format-version: 1.2 data-version: 1.299 date: 16:11:2024 20:13 saved-by: rgd auto-generated-by: --RGD OBO FILE GENERATOR -- build 2023-05-30 -- subsetdef: RGD_JBrowse_slim "RGD_JBrowse_slim" default-namespace: rgd_disease_ontology remark: In January of 2018, RGD transitioned from use of the Comparative Toxicogenomics Database's "MEDIC" vocabulary, based on a combination of the Medical Subject Headings (MeSH) and Online Mendelian Inheritance in Man (OMIM) disease vocabularies, to the use of the Human Disease Ontology (DO, see http://bioportal.bioontology.org/ontologies/DOID) as the basis of the disease ontology in use at RGD. As found on the RGD website and in RGD's ftp files, the DO has been supplemented with additional terms needed for curation at RGD to form the "RGD Disease Ontology (RDO)". An up-to-date copy of this ontology file is generated automatically from the RGD database and posted to the RGD ftp site at ftp://ftp.rgd.mcw.edu/pub/ontology/disease/ on a daily basis. Ontologies with ids in the format "DOID:9xxxxxx" have been added by RGD curators. Wherever possible, DOIDs have been mapped to the previous RDO IDs and RDO IDs (i.e. RDO:xxxxxxx IDs) appear as alternate IDs for the existing terms. ontology: rdo [Term] id: DOID:0001816 name: angiosarcoma def: "A vascular cancer that derives_from the cells that line the walls of blood vessels or lymphatic vessels. (DO)" [http://en.wikipedia.org/wiki/Hemangiosarcoma "DO", https://en.wikipedia.org/wiki/Angiosarcoma "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3088 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23327728 "DO"] synonym: "angiosarcomas" EXACT [] synonym: "EFO:0003968" EXACT [] synonym: "hemangiosarcoma" EXACT [] synonym: "hemangiosarcomas" EXACT [] synonym: "vascular sarcoma" BROAD [] xref: EFO:0003967 xref: EFO:0003968 xref: ICDO:9120/3 xref: MESH:D006394 xref: NCI:C122783 xref: NCI:C24016 xref: NCI:C3088 xref: NCI:C9275 is_a: DOID:1115 ! sarcoma is_a: DOID:175 ! vascular cancer [Term] id: DOID:0002116 name: pterygium def: "A corneal disease that is characterized by a triangular tissue growth located_in cornea of the eye that is the result of collagen degeneration and fibrovascular proliferation. (DO)" [https://en.wikipedia.org/wiki/Pterygium_(conjunctiva) "DO"] synonym: "EFO:0000678" EXACT [] synonym: "pterygiums" EXACT [] synonym: "surfer's eye" EXACT [] xref: EFO:0000678 xref: MESH:D011625 xref: NCI:C133744 is_a: DOID:10124 ! corneal disease [Term] id: DOID:0014667 name: disease of metabolism def: "A disease that involving errors in metabolic processes of building or degradation of molecules. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK22259/ "DO"] synonym: "metabolic disease" EXACT [] synonym: "metabolic diseases" EXACT [] synonym: "metabolic toxicity" NARROW [] synonym: "thesaurismoses" EXACT [] synonym: "thesaurismosis" EXACT [] xref: EFO:0000589 xref: EFO:0011054 xref: ICD10CM:E88.9 xref: ICD9CM:277.9 xref: MESH:D008659 xref: NCI:C3235 is_a: DOID:9008231 ! Nutritional and Metabolic Diseases [Term] id: DOID:0040001 name: shrimp allergy def: "A crustacean allergy that has_allergic_trigger shrimp. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20471069 "DO"] is_a: DOID:0060524 ! crustacean allergy [Term] id: DOID:0040002 name: aspirin allergy def: "A drug allergy that has_allergic_trigger acetylsalicylic acid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2468301 "DO"] synonym: "acetylsalicylic acid allergy" EXACT [] synonym: "ASA allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040003 name: benzylpenicillin allergy def: "A beta-lactam allergy that has_allergic_trigger benzylpenicillin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14483916 "DO"] synonym: "benzyl penicillin allergy" EXACT [] synonym: "penicillin G allergy" EXACT [] is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040004 name: amoxicillin allergy def: "A beta-lactam allergy that has_allergic_trigger amoxicillin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11746950 "DO"] is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040005 name: ceftriaxone allergy def: "A cephalosporin allergy that has_allergic_trigger ceftriaxone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"] synonym: "rocephin allergy" EXACT [] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040006 name: carbamazepine allergy def: "A drug allergy that has_allergic_trigger carbamazepine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7602118 "DO"] synonym: "carbamazepen allergy" EXACT [] synonym: "tegretol allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040007 name: abacavir allergy alt_id: DOID:9007813 def: "A drug allergy that has_allergic_trigger abacavir. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25674793 "DO"] synonym: "Abacavir Hypersensitivity" EXACT [] synonym: "ABACAVIR HYPERSENSITIVITY, SUSCEPTIBILITY TO" RELATED [] synonym: "ABC allergy" EXACT [] xref: MIM:142830 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040008 name: isoniazide allergy def: "A drug allergy that has_allergic_trigger isoniazide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "INH allergy" EXACT [] synonym: "isonicotinylhydrazide allergy" EXACT [] xref: ICD10CM:Z88.1 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040009 name: lidocaine allergy def: "A drug allergy that has_allergic_trigger lidocaine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9013953 "DO"] synonym: "lidoderm allergy" EXACT [] synonym: "lignocaine allergy" EXACT [] synonym: "xylocaine allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040010 name: mepivacaine allergy def: "A drug allergy that has_allergic_trigger mepivacaine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9989796 "DO"] synonym: "carbocaine allergy" EXACT [] synonym: "polocaine allergy" EXACT [] xref: ICD10CM:Z88.4 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040011 name: phenobarbital allergy def: "A drug allergy that has_allergic_trigger phenobarbital. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11994495 "DO"] synonym: "luminal allergy" EXACT [] synonym: "phenobarbitol allergy" EXACT [] synonym: "phenobarbitone allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040012 name: phenytoin allergy def: "A drug allergy that has_allergic_trigger phenytoin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7602118 "DO"] synonym: "dilantin allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040013 name: ranitidine allergy def: "A drug allergy that has_allergic_trigger ranitidine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7782125 "DO"] synonym: "zantac allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040014 name: corticosteroid allergy def: "A drug allergy that has_allergic_trigger corticosteroid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2265088 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040015 name: sulfonamide allergy def: "A drug allergy that has_allergic_trigger sulfonamide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2434548 "DO"] xref: ICD10CM:Z88.9 is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040016 name: sulfamethoxazole allergy def: "A drug allergy that has_allergic_trigger sulfamethoxazole. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7602118 "DO"] synonym: "SMX allergy" EXACT [] synonym: "SMZ allergy" EXACT [] synonym: "sulphamethoxazole allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040017 name: suprofen allergy def: "A drug allergy that has_allergic_trigger suprofen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/509935 "DO"] synonym: "Profenal allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040018 name: thiopental allergy def: "A drug allergy that has_allergic_trigger thiopental. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"] synonym: "penthiobarbital allergy" EXACT [] synonym: "pentothiobarbital allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040019 name: D-mannitol allergy def: "A drug allergy that has_allergic_trigger D-mannitol. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15479277 "DO"] synonym: "mannitol allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040020 name: cefotaxime allergy def: "A cephalosporin allergy that has_allergic_trigger cefotaxime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040021 name: cephalosporin allergy def: "A drug allergy that has_allergic_trigger cephalosporin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2083978 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040022 name: amodiaquine allergy def: "A drug allergy that has_allergic_trigger amodiaquine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1959977 "DO"] synonym: "Camoquin allergy" EXACT [] synonym: "Flavoquine allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040023 name: cefaclor allergy def: "A cephalosporin allergy that has_allergic_trigger cefaclor. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12569987 "DO"] synonym: "ceclor allergy" EXACT [] synonym: "cephaclor allergy" EXACT [] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040024 name: ceftazidime allergy def: "A cephalosporin allergy that has_allergic_trigger ceftazidime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"] synonym: "Fortaz allergy" EXACT [] synonym: "Tazicef allergy" EXACT [] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040025 name: cefuroxime allergy def: "A cephalosporin allergy that has_allergic_trigger cefuroxime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833570 "DO"] synonym: "cephuroxime allergy" EXACT [] synonym: "Zinacef allergy" EXACT [] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040026 name: chlorhexidine allergy def: "A drug allergy that has_allergic_trigger chlorhexidine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10848923 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040027 name: cyclophosphamide allergy def: "A drug allergy that has_allergic_trigger cyclophosphamide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8024619 "DO"] synonym: "cytophosphane allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040028 name: succinylcholine allergy def: "A drug allergy that has_allergic_trigger succinylcholine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2410473 "DO"] synonym: "dicholine succinate allergy" EXACT [] synonym: "succinocholine allergy" EXACT [] synonym: "sux allergy" EXACT [] synonym: "suxamethonium allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040029 name: trimethoprim allergy def: "A drug allergy that has_allergic_trigger trimethoprim. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3377143 "DO"] synonym: "Primsol allergy" EXACT [] synonym: "proloprim allergy" EXACT [] synonym: "TMP allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040030 name: cefixime allergy def: "A cephalosporin allergy that has_allergic_trigger cefixime. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16867046 "DO"] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040031 name: diclofenac allergy def: "A drug allergy that has_allergic_trigger diclofenac. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21060839 "DO"] synonym: "Voltaren allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040032 name: carbapenem allergy def: "A drug allergy that has_allergic_trigger carbapenems. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2457043 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040033 name: piperacillin allergy def: "A beta-lactam allergy that has_allergic_trigger piperacillin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21532862 "DO"] is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040034 name: rocuronium allergy def: "A drug allergy that has_allergic_trigger rocuronium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17667569 "DO"] synonym: "Esmeron allergy" EXACT [] synonym: "Zemuron allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040035 name: sulfasalazine allergy def: "A drug allergy that has_allergic_trigger sulfasalazine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2434548 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040036 name: tubocurarine allergy def: "A drug allergy that has_allergic_trigger tubocurarine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"] synonym: "DTC allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040037 name: aztreonam allergy def: "A beta-lactam allergy that has_allergic_trigger aztreonam. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1991925 "DO"] synonym: "Azactam allergy" EXACT [] synonym: "Primbactam allergy" EXACT [] is_a: DOID:0060519 ! beta-lactam allergy [Term] id: DOID:0040038 name: meropenem allergy def: "An allergic asthma that has_allergic_trigger meropenem, a beta-lactam antibiotic. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23668298 "DO"] synonym: "Merrem allergy" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040040 name: hexamethylene diisocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger hexamethylene diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8711735 "DO"] synonym: "allergic asthma to HDI" EXACT [] synonym: "allergic asthma to HMDI" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040041 name: isocyanates allergic asthma def: "An allergic asthma that has_allergic_trigger isocyanates. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3349596 "DO"] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040042 name: diphenylmethane-4,4'-diisocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8711735 "DO"] synonym: "allergic asthma to MDI" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040043 name: toluene meta-diisocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger toluene meta-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11289402 "DO"] synonym: "allergic asthma to TDI" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040044 name: methyl isocyanate allergic asthma def: "An isocyanates allergic asthma that has_allergic_trigger methyl isocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3622432 "DO"] synonym: "allergic asthma to MIC" EXACT [] is_a: DOID:0040041 ! isocyanates allergic asthma [Term] id: DOID:0040045 name: nickel allergic asthma def: "An allergic asthma that has_allergic_trigger nickel atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6691936 "DO"] synonym: "allergic asthma to Ni" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040046 name: nickel allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger nickel atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7671317 "DO"] synonym: "allergic contact dermatitis to Ni" EXACT [] synonym: "contact dermatitis due to nickel" NARROW [] xref: EFO:0005320 xref: ICD10CM:L23.0 is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040047 name: trimellitic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger trimellitic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6643876 "DO"] synonym: "allergic asthma to TMA" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040048 name: phthalic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger phthalic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3711550 "DO"] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040049 name: maleic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger maleic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3711550 "DO"] synonym: "allergic asthma to MA" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040050 name: tetrachlorophthalic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger tetrachlorophthalic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3711550 "DO"] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040051 name: hexahydrophthalic anhydride allergic asthma def: "An allergic asthma that has_allergic_trigger hexahydrophthalic anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4008795 "DO"] synonym: "allergic asthma to HHPA" EXACT [] is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040052 name: diphenylmethane-4,4'-diisocyanate allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger diphenylmethane-4,4-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6296214 "DO"] synonym: "allergic contact dermatitis to MDI" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040053 name: cobalt allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger cobalt atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8566016 "DO"] synonym: "allergic contact dermatitis to Co" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040054 name: cobalt allergic asthma def: "An allergic asthma that has_allergic_trigger cobalt atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7444839 "DO"] synonym: "Co allergic asthma" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:9415 ! allergic asthma [Term] id: DOID:0040055 name: palladium allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger palladium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25097477 "DO"] synonym: "allergic contact dermatitis to Pd" EXACT [] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040056 name: chromium allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger chromium atom. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1108802 "DO"] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040057 name: benzoic acid allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger benzoic acid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25097477 "DO"] synonym: "allergic contact dermatitis to benzoate" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040058 name: 1,4-phenylenediamine allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 1,4-phenylenediamine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8400900 "DO"] synonym: "allergic contact dermatitis to PPD" EXACT [] synonym: "allergic contact dermatitis to p-phenylenediamine" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040059 name: potassium dichromate allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger potassium dichromate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15462465 "DO"] is_a: DOID:0060501 ! metal allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040060 name: ketoprofen photoallergic dermatitis def: "A photoallergic dermatitis that has_allergic_trigger ketoprofen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11169173 "DO"] synonym: "photoallergic dermatitis to orudis" EXACT [] is_a: DOID:0060500 ! drug allergy is_a: DOID:3818 ! photoallergic dermatitis [Term] id: DOID:0040061 name: remazole black respiratory allergy def: "A respiratory allergy that has_allergic_trigger remazole black-GR. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2312995 "DO"] synonym: "respiratory allergy to Reactive Black 5" EXACT [] is_a: DOID:0060496 ! respiratory allergy is_a: DOID:0060501 ! metal allergy [Term] id: DOID:0040062 name: chloramine T respiratory allergy def: "A respiratory allergy that has_allergic_trigger chloramine T. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2758361 "DO"] synonym: "respiratory allergy to Chloraseptin" EXACT [] synonym: "respiratory allergy to Chlorazol" EXACT [] synonym: "respiratory allergy to Trichlorol" EXACT [] is_a: DOID:0060496 ! respiratory allergy is_a: DOID:0060501 ! metal allergy [Term] id: DOID:0040063 name: 4-vinylcyclohexene dioxide respiratory allergy def: "A respiratory allergy that has_allergic_trigger 4-vinylcyclohexene dioxide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3356477 "DO"] synonym: "respiratory allergy to vinyl cyclohexene diepoxide" EXACT [] is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:0040064 name: carvone allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger (-)-carvone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11380545 "DO"] synonym: "allergic contact dermatitis to levo-carvone" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040065 name: quinidine allergy def: "A drug allergy that has_allergic_trigger quinidine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "Kinidin allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040066 name: melphalan allergy def: "A drug allergy that has_allergic_trigger melphalan. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "Alkeran allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040067 name: neomycin sulfate allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger neomycin sulfate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21616561 "DO"] synonym: "allergic contact dermatitis to neomycin sulphate" EXACT [] is_a: DOID:0060500 ! drug allergy is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040068 name: 4-tert-butylphenol allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 4-tert-butylphenol. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8462290 "DO"] synonym: "allergic contact dermatitis to butylphen" EXACT [] synonym: "allergic contact dermatitis to PTBP" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040069 name: 1-chloro-2,4-dinitrobenzene allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 1-chloro-2,4-dinitrobenzene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17008874 "DO"] synonym: "allergic contact dermatitis to dinitrochlorobenzene" EXACT [] synonym: "allergic contact dermatitis to DNCB" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040070 name: co-trimoxazole allergy def: "A drug allergy that has_allergic_trigger co-trimoxazole. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "Bactrim allergy" EXACT [] synonym: "cotrimoxazol allergy" EXACT [] synonym: "TMP/SMX allergy" EXACT [] synonym: "trimethoprim/sulfamethoxazole allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040071 name: sodium aurothiomalate allergy def: "A drug allergy that has_allergic_trigger sodium aurothiomalate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/445303 "DO"] synonym: "gold sodium thiomalate allergy" EXACT [] is_a: DOID:0060500 ! drug allergy created_by: rgd creation_date: 2016-06-14T12:24:56Z [Term] id: DOID:0040072 name: parthenolide allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger parthenolide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17986299 "DO"] synonym: "allergic contact dermatitis to feverfew" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040073 name: disodium cromoglycate allergy def: "A drug allergy that has_allergic_trigger disodium cromoglycate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3128591 "DO"] synonym: "DSCG allergy" EXACT [] is_a: DOID:0060500 ! drug allergy is_a: DOID:0060501 ! metal allergy [Term] id: DOID:0040074 name: formaldehyde allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger formaldehyde. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7902023 "DO"] synonym: "allergic contact dermatitis to formalin" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040075 name: benzo[d]isothiazol-3-one allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger benzo[d]isothiazol-3-one. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6446435 "DO"] synonym: "allergic contact dermatitis to benzisothiazolone" EXACT [] synonym: "allergic contact dermatitis to BIT" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040076 name: phthalyl group allergy def: "A drug allergy that has_allergic_trigger phthalyl group. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7400667 "DO"] synonym: "phthalyl allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040077 name: alcuronium bromide allergy def: "A drug allergy that has_allergic_trigger alcuronium bromide. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040078 name: gallamine allergy def: "A drug allergy that has_allergic_trigger gallamine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215478 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040079 name: 2,4-dinitrophenyl allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger 2,4-dinitrophenyl group. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17008874 "DO"] synonym: "allergic contact dermatitis to DNP" EXACT [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040080 name: patent blue V allergy def: "A drug allergy that has_allergic_trigger patent blue V. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19804438 "DO"] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040081 name: acid anhydride respiratory allergy def: "A respiratory allergy that has_allergic_trigger acid anhydride. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6643876 "DO"] is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:0040082 name: oxirane allergy def: "A drug allergy that has_allergic_trigger oxirane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3932500 "DO"] synonym: "ethylene oxide allergy" EXACT [] synonym: "ETO allergy" EXACT [] is_a: DOID:0060500 ! drug allergy [Term] id: DOID:0040083 name: Chlamydia pneumonia def: "A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16831205 "DO"] synonym: "Chlamydial Pneumonia" EXACT [] synonym: "Chlamydial Pneumonias" EXACT [] synonym: "chlamydophila pneumonia" EXACT [] synonym: "chlamydophila pneumonias" EXACT [] xref: ICD10CM:J16.0 xref: ICD9CM:483.1 xref: MESH:D061387 is_a: DOID:11263 ! chlamydia is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9008527 ! Chlamydophila Infections [Term] id: DOID:0040084 name: Streptococcus pneumonia def: "A bacterial pneumonia has_material_basis_in Streptococcus pneumoniae. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26396191 "DO"] xref: EFO:0007499 xref: ICD10CM:J13 xref: ICD9CM:481 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:0040085 name: bacterial sepsis def: "A bacterial infectious disease has_material_basis_in Bacteria. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20421654 "DO"] xref: EFO:0003033 xref: ICD9CM:995.91 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9004484 ! Sepsis [Term] id: DOID:0040086 name: polyomavirus-associated nephropathy def: "A viral infectious disease has_material_basis_in BK polyomavirus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16537617 "DO"] synonym: "PVAN" EXACT [] is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome [Term] id: DOID:0040087 name: autoimmune peripheral neuropathy def: "An autoimmune disease of peripheral nervous system that results in peripheral neuropathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7693874 "DO"] is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system [Term] id: DOID:0040088 name: autoimmune uveitis def: "An autoimmune disease of eyes, ear, nose and throat that is located_in the uvea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12938234 "DO"] is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat is_a: DOID:13141 ! uveitis [Term] id: DOID:0040089 name: autoimmune optic neuritis def: "An autoimmune disease of peripheral nervous system that is located_in the neuron projection bundle connecting eye with brain. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7516573 "DO"] is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:1210 ! optic neuritis [Term] id: DOID:0040090 name: autoimmune gastritis def: "An autoimmune disease of gastrointestinal tract that is located_in the stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12645953 "DO"] is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:76 ! stomach disease [Term] id: DOID:0040091 name: autoimmune pancreatitis def: "An autoimmune disease of endocrine system that is located_in the pancreas. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19940298 "DO"] synonym: "Idiopathic Duct-centric Pancreatitis" EXACT [] synonym: "IgG4-related Pancreatitis" EXACT [] synonym: "type 1 AIP" NARROW [] synonym: "Type 1 Autoimmune Pancreatitis" NARROW [] synonym: "type 2 AIP" NARROW [] synonym: "Type 2 Autoimmune Pancreatitis" NARROW [] xref: EFO:1000780 xref: MESH:D000081012 is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:9006190 ! Chronic Pancreatitis [Term] id: DOID:0040092 name: juvenile ankylosing spondylitis def: "An ankylosing spondylitis with onset during childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7541736 "DO"] xref: ICD10CM:M08.1 is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0040093 name: drug-induced lupus erythematosus def: "A lupus erythematosus caused by chronic use of certain drugs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1378852 "DO"] synonym: "DIL" EXACT [] synonym: "DILE" EXACT [] xref: ICD10CM:M32.0 xref: NCI:C114354 xref: ORDO:231111 is_a: DOID:8857 ! lupus erythematosus [Term] id: DOID:0040094 name: autoimmune glomerulonephritis def: "An autoimmune disease of urogenital tract that is located_in the renal glomerulus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8809141 "DO"] is_a: DOID:0060049 ! autoimmune disease of urogenital tract [Term] id: DOID:0040095 name: autoimmune cardiomyopathy def: "An autoimmune disease of cardiovascular system that is characterized by deterioration of the function of the heart muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10762456 "DO"] is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:114 ! heart disease [Term] id: DOID:0040096 name: autoimmune atherosclerosis def: "An autoimmune disease of cardiovascular system that is characterized by a build up of plaque in the arteries. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17097662 "DO"] is_a: DOID:0060051 ! autoimmune disease of cardiovascular system [Term] id: DOID:0040097 name: autoimmune vasculitis def: "An autoimmune disease of cardiovascular system that is characterized by inflammation of the blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23549081 "DO"] is_a: DOID:0060051 ! autoimmune disease of cardiovascular system [Term] id: DOID:0040098 name: pemphigus gestationis def: "A pemphigus that is characterized by blistered skin as a result of self-reactive T and B cells that target BP180. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16552711 "DO"] xref: EFO:1000709 xref: ICD10CM:O26.4 is_a: DOID:9182 ! pemphigus [Term] id: DOID:0040099 name: livedoid vasculitis def: "A vasculitis with purpuric ulcers. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10925314 "DO"] synonym: "Idiopathic Atrophic Blanche" EXACT [] synonym: "livedoid vasculopathy" EXACT [] synonym: "livedo reticularis with summer ulceration" EXACT [] synonym: "Livedo Vasculitis" EXACT [] synonym: "White Atrophy" EXACT [] xref: ICD10CM:L95.0 xref: MESH:D000090122 is_a: DOID:0060903 ! thrombosis is_a: DOID:865 ! vasculitis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:0040100 name: Hirata disease def: "An autoimmune disease of endocrine system characterized by hypoglycemia caused by antibodies to insulin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10445096 "DO"] synonym: "insulin autoimmune syndrome" EXACT [] is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:225 ! syndrome is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:0040101 name: N,N'-diphenylthiourea allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger N,N-diphenylthiourea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28295200 "DO"] synonym: "neoprene allergy" RELATED [] is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:0040102 name: N,N'-diethylthiourea allergic contact dermatitis def: "An allergic contact dermatitis that has_allergic_trigger N,N-diethylthiourea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28295200 "DO"] synonym: "neoprene allergy" RELATED [] is_a: DOID:3042 ! allergic contact dermatitis created_by: rgd creation_date: 2018-06-20T00:00:00Z [Term] id: DOID:0040103 name: cefotiam allergy def: "A cephalosporin allergy that has_allergic_trigger cefotiam. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28543395 "DO"] is_a: DOID:0040021 ! cephalosporin allergy [Term] id: DOID:0040104 name: toluene 2,4-diisocyanate allergic asthma def: "A toluene meta-diisocyanate allergic asthma that has_allergic_trigger toluene 2,4-diisocyanate. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3194110/ "DO"] is_a: DOID:0040043 ! toluene meta-diisocyanate allergic asthma [Term] id: DOID:0050004 name: seminal vesicle acute gonorrhea def: "A gonococcal seminal vesiculitis that is characterized by back pain, perineal pain, pain with ejaculation, hematospermia and voiding symptoms resulting from inflammation located_in the seminal vesicles caused by Neisseria gonorrhoeae infection. (DO)" [https://en.wikipedia.org/wiki/Seminal_vesicle#Inflammation "DO"] xref: RDO:9004909 is_a: DOID:10400 ! gonococcal seminal vesiculitis created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050012 name: chikungunya def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. (DO)" [http://en.wikipedia.org/wiki/Chikungunya_virus "DO"] synonym: "chikungunya fever" EXACT [] synonym: "Chikungunya Fevers" EXACT [] synonym: "Chikungunya Virus Infection" EXACT [] synonym: "Chikungunya Virus Infections" EXACT [] xref: GARD:6038 xref: MESH:D065632 is_a: DOID:9007339 ! Alphavirus Infections [Term] id: DOID:0050025 name: human granulocytic anaplasmosis def: "An ehrlichiosis that results in infection located in granular leukocyte, has_material_basis_in Anaplasma phagocytophilum, which is transmitted by lone star tick (Amblyomma americanum). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25999228 "DO"] synonym: "HGE" EXACT [] synonym: "human granulocytic ehrlichiosis" EXACT [] xref: EFO:0000777 is_a: DOID:10242 ! ehrlichiosis [Term] id: DOID:0050026 name: human monocytic ehrlichiosis def: "An ehrlichiosis that results in infection located in monocyte or located in macrophage, has_material_basis_in Ehrlichia chaffeensis, which is transmitted by black-legged tick (Ixodes scapularis), transmitted by western black-legged tick (Ixodes pacificus) or transmitted by castor bean tick (Ixodes ricinus). The infection has symptom headache, has symptom muscle aches, has symptom fatigue, has symptom fever and has symptom rash. (DO)" [https://rarediseases.org/rare-diseases/human-monocytic-ehrlichiosis-hme/ "DO"] synonym: "Ehrlichiosis chafeensis" RELATED [] xref: GARD:72 is_a: DOID:10242 ! ehrlichiosis [Term] id: DOID:0050032 name: mineral metabolism disease def: "An acquired metabolic disease that is characterized by abnormal mineral metabolism. (DO)" [http://www.nlm.nih.gov/medlineplus/metabolicdisorders.html "DO"] xref: EFO:0009556 xref: RDO:9003951 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:0060158 ! acquired metabolic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050035 name: African tick-bite fever def: "A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. (DO)" [http://jcm.asm.org/cgi/reprint/42/2/816 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Rickettsia africae spotted fever" EXACT [] synonym: "South African tick-bite fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050041 name: Astrakhan spotted fever def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp caspia, which is transmitted_by ticks (Rhipicephalus pumilio and Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. (DO)" [http://books.google.com/books?id=dKlUARLKT9IC&pg=PA306&lpg=PA306&dq#v=onepage&q&f=false "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050042 name: Indian tick typhus def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp indica, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO)" [http://www.biomedcentral.com/1471-2180/5/11 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050043 name: Israeli tick typhus def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp israelensis, which is transmitted_by ticks (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash on extremities. (DO)" [http://www.biomedcentral.com/1471-2180/5/11 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Israeli spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050046 name: Far Eastern spotted fever def: "A spotted fever that has_material_basis_in Rickettsia heilongjiangensis, which is transmitted_by ticks (Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom maculopapular rash, and has_symptom regional adenopathy. (DO)" [http://www.cdc.gov/eid/content/16/8/pdfs/1306.pdf "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Rickettsia heilongjiangensis spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050047 name: Flinders Island spotted fever def: "A spotted fever that has_material_basis_in Rickettsia honei, which is transmitted_by cayenne ticks (Amblyomma cajennense). The infection has_symptom mild spotted fever, has_symptom eschar and has_symptom adenopathy. (DO)" [https://www.cdc.gov/otherspottedfever/imported/index.html "DO"] synonym: "FISF" EXACT [] synonym: "Thai tick typhus" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050050 name: Japanese spotted fever def: "A spotted fever that has_material_basis_in Rickettsia japonica, which is transmitted_by ticks (Dermacentor taiwanensis and Haemaphysalis flava). The infection has_symptom fever, has_symptom eschars, has_symptom regional adenopathy, and has_symptom rash on extremities. (DO)" [http://www.cdc.gov/otherspottedfever/index.html "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2627607/pdf/9204291.pdf "DO"] synonym: "oriental spotted fever" EXACT [] synonym: "Rickettsia japonica spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:0050051 name: Rickettsia parkeri spotted fever def: "A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_parkeri "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "maculatum infection" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050052 name: Rocky Mountain spotted fever def: "A spotted fever that has_material_basis_in Rickettsia rickettsii, which is transmitted_by ticks (Dermacentor variabilis and Dermacentor andersoni). The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, and has_symptom maculopapular rash progressing into papular or petechial rash. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_rickettsii_%28Rocky_Mountain_spotted_fever%29 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Brazilian spotted" RELATED [] synonym: "Choix" RELATED [] synonym: "Exanthematic typhus of Sao Paulo" RELATED [] synonym: "Fiebre maculosa" RELATED [] synonym: "Fiebre manchada" RELATED [] synonym: "Sao Paulo Typhus" EXACT [] synonym: "So Paulo fever" RELATED [] synonym: "Tick typhus" EXACT [] synonym: "Tobia fever" RELATED [] xref: GARD:7585 xref: MESH:D012373 is_a: DOID:11104 ! spotted fever [Term] id: DOID:0050059 name: oropharyngeal anthrax def: "A gastrointestinal anthrax that results in infection located in mucosa of oropharynx, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3934300 "DO"] is_a: DOID:13386 ! gastrointestinal anthrax [Term] id: DOID:0050061 name: erysipeloid def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Erysipelothrix rhusiopathiae, which is transmitted_by contact with infected animals. The infection has_symptom redness of skin, has_symptom tenderness of skin and has_symptom warmth of skin. (DO)" [https://en.wikipedia.org/wiki/Erysipeloid "DO"] synonym: "erysipeloids" EXACT [] synonym: "Erysipelothrix rhusiopathiae infectious disease" EXACT [] xref: EFO:1000928 xref: MESH:D004887 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9006691 ! Erysipelothrix Infections [Term] id: DOID:0050072 name: adiaspiromycosis def: "A primary systemic mycosis that is a fungal infection located_in lungs, or located_in skin, which results_in disseminated granulomatous pulmonary process and cutaneous infection in rodents, small wild mammals and humans, has_material_basis_in Chrysosporium parvum or Emmonsia crescens. (DO)" [http://www.eblue.org/article/S0190-9622%2804%2901331-3/abstract "DO"] xref: MESH:C000656784 is_a: DOID:0050134 ! cutaneous mycosis is_a: DOID:0050292 ! primary systemic mycosis is_a: DOID:37 ! skin disease is_a: DOID:9005724 ! Fungal Lung Diseases created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050073 name: invasive aspergillosis def: "An aspergillosis that is a serious fungal infection of the lung with pneumonia caused by Aspergillus, which spreads to other parts of the body through bloodstream in patients with acute leukemia and recipients of tissue transplants. Clinical symptoms include pulmonary nodules and hemorrhage. (DO)" [http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm "DO"] synonym: "Aspergilloses, Lung" EXACT [] synonym: "Bronchopulmonary Aspergillose" EXACT [] synonym: "Bronchopulmonary Aspergilloses" EXACT [] synonym: "Bronchopulmonary Aspergillosis" EXACT [] synonym: "Lung Aspergillosis" EXACT [] synonym: "pulmonary aspergilloses" EXACT [] synonym: "pulmonary aspergillosis" EXACT [] xref: MESH:D055732 is_a: DOID:13564 ! aspergillosis [Term] id: DOID:0050083 name: Keshan disease def: "A nutritional deficiency that is disease characterized by a cardiomyopathy secondary to selenium deficiency. (DO)" [https://en.wikipedia.org/wiki/Keshan_disease "DO"] xref: GARD:8761 xref: MESH:C536166 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:9006549 ! Enterovirus Infections [Term] id: DOID:0050096 name: tinea barbae def: "A dermatophytosis that results_in fungal infection which effects horny layer of epidermis of the bearded areas located_in face or located_in neck, has_material_basis_in Trichophyton mentagrophytes or has_material_basis_in Trichophyton verrucosum, which also effects hair, and effects nail and has_symptom inflammatory kerion-like plaques, and results_in_formation_of noninflammatory superficial perifollicular pustules. (DO)" [https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-barbae "DO"] synonym: "barber's itch" EXACT [] synonym: "beard ringworm" EXACT [] synonym: "dermatophytosis of beard" EXACT [] xref: MESH:C000656825 is_a: DOID:8913 ! dermatophytosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050097 name: ectothrix infectious disease def: "A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. (DO)" [https://www.merckmanuals.com/professional/dermatologic-disorders/fungal-skin-infections/tinea-capitis "DO"] is_a: DOID:4337 ! tinea capitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050105 name: endothrix infectious disease def: "A tinea capitis that results_in fungal infection located_in hair, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which produce arthroconidia within the hair shaft only. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/ "DO"] is_a: DOID:4337 ! tinea capitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050116 name: tinea imbricata def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton concentricum, which is characterized by ring-like growth in overlapping circles that may have an autosomal dominant genetic predisposition. (DO)" [https://www.sciencedirect.com/topics/medicine-and-dentistry/tinea-imbricata "DO"] synonym: "tinea imbricata, susceptibility to" RELATED [] xref: MIM:275240 is_a: DOID:12179 ! tinea corporis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050117 name: disease by infectious agent def: "A disease that is the consequence of the presence of pathogenic microbial agents, including pathogenic viruses, pathogenic bacteria, fungi, protozoa, multicellular parasites, and aberrant proteins known as prions. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26726 "DO"] synonym: "communicable disease" EXACT [] synonym: "communicable diseases" EXACT [] synonym: "infection" EXACT [] synonym: "infections" EXACT [] synonym: "infectious disease" EXACT [] synonym: "infectious diseases" EXACT [] synonym: "recurrent infections" NARROW [] xref: EFO:0000544 xref: EFO:0005741 xref: ICD9CM:079.0 xref: MESH:D003141 xref: MESH:D007239 is_a: DOID:4 ! disease [Term] id: DOID:0050118 name: La Crosse encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in La Crosse virus, which is transmitted_by treehole mosquito, Ochlerotatus triseriatus. The infection has_symptom seizures, has_symptom headache, has_symptom fever, has_symptom coma, and has_symptom paralysis. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO"] synonym: "California encephalitis" EXACT [] synonym: "California viral encephalitides" EXACT [] synonym: "California viral encephalitis" EXACT [] synonym: "California virus encephalitis" EXACT [] synonym: "neuroinvasive California encephalitis virus infection" EXACT [] xref: ICD10CM:A83.5 xref: ICD9CM:062.5 xref: MESH:D004670 is_a: DOID:9004137 ! Bunyaviridae Infections is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:0050120 name: hemophagocytic lymphohistiocytosis def: "A lymphatic system disease that is characterized by an expansion of the monocyte-macrophage population and intense hemophagocytosis. It can occur de novo, but more often occurs in the setting of another disorder, usually an infection or a malignancy. A clinical picture of fever, hepatosplenomegaly, lymphadenopathy and peripheral pancytopenia. The morphologic hallmark of this syndrome is the phagocytosis of hematopoietic elements by morphologically normal macrophages. (DO)" [http://ghr.nlm.nih.gov/condition/familial-hemophagocytic-lymphohistiocytosis "DO", http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801997000500007&lng=pt&nrm=iso "DO"] synonym: "haemophagocytic syndrome" EXACT [] synonym: "hemophagocytic lymphohistiocytoses" EXACT [] synonym: "hemophagocytic syndrome" EXACT [] synonym: "hemophagocytic syndromes" EXACT [] synonym: "HPLH" EXACT [] synonym: "HPS" EXACT [] synonym: "infection-associated hemophagocytic syndrome" EXACT [] synonym: "primary hemophagocytic hymphohistiocytosis" EXACT [] synonym: "primary hemophagocytic lymphohistiocytosis" EXACT [] synonym: "reactive hemophagocytic syndrome" EXACT [] xref: GARD:6589 xref: ICD10CM:D76.1 xref: MESH:D051359 xref: MIM:PS267700 xref: NCI:C34792 xref: ORDO:540 is_a: DOID:4330 ! non-Langerhans-cell histiocytosis [Term] id: DOID:0050125 name: dengue shock syndrome def: "A dengue disease that involves the most severe form of dengue fever, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has_symptom easy bruising, has_symptom blood spots, has_symptom bleeding gums, and has_symptom nosebleeds. It is accompanied by circulatory collapse, involves hypotension, narrow pulse pressure (less than or equal to 20mm Hg), or frank shock. The shock occurs after two to six days of symptoms, followed by collapse, weak pulse, and blueness around the mouth. (DO)" [http://en.wikipedia.org/wiki/Dengue_shock_syndrome "DO"] synonym: "DSS" EXACT [] is_a: DOID:12206 ! dengue hemorrhagic fever is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050127 name: sinusitis def: "A paranasal sinus disease involving inflammation of the paranasal sinuses resulting from bacterial, fungal, viral infection, allergic or autoimmune issues. Symptoms can include fever, weakness, fatigue, cough and congestion. There may also be mucus drainage in the back of the throat, called postnasal drip. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"] synonym: "Sinusitides" EXACT [] xref: EFO:0007486 xref: ICD10CM:J01 xref: ICD9CM:461 xref: MESH:D012852 xref: NCI:C128411 is_a: DOID:1352 ! paranasal sinus disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:0050129 name: secretory diarrhea def: "A diarrhea where there is an increase in the active secretion, or there is an inhibition of absorption causing little to no structural damage. The most common cause of this type of diarrhea is a cholera toxin that stimulates the secretion of anions, especially chloride ions. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050130 name: osmotic diarrhea def: "A dirrhea that occurs when too much water is drawn into the bowels. This can be the result of maldigestion (e.g., pancreatic disease or Coeliac disease), in which the nutrients are left in the lumen to pull in water. Osmotic diarrhea can also be caused by osmotic laxatives (which work to alleviate constipation by drawing water into the bowels). In healthy individuals, too much magnesium or vitamin C or undigested lactose can produce osmotic diarrhea and distention of the bowel. A person who does not have lactose intolerance can have difficulty absorbing lactose after an extraordinarily high intake of dairy products. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050131 name: motility-related diarrhea def: "A diarrhea which is caused by the rapid movement of food through the intestines (hypermotility). If the food moves too quickly through the GI tract, there is not enough time for sufficient nutrients and water to be absorbed. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050132 name: inflammatory diarrhea def: "A gastrointestinal system infectious disease involving diarrhea that occurs when there is damage to the mucosal lining or brush border, which leads to a passive loss of protein-rich fluids, and a decreased ability to absorb these lost fluids. It can be caused by bacterial infections, viral infections, parasitic infections, or autoimmune problems such as inflammatory bowel diseases. It can also be caused by tuberculosis, colon cancer, and enteritis. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] xref: RDO:9002488 is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050133 name: superficial mycosis def: "A fungal infectious disease that results_in infection of the outermost layer located_in skin or located_in hair shaft, has_material_basis_in Fungi. No living tissue is invaded and there is no cellular response from the host. (DO)" [http://en.wikipedia.org/wiki/Mycoses "DO", http://www.mycology.adelaide.edu.au/Mycoses/ "DO"] synonym: "piedra" EXACT [] synonym: "piedras" EXACT [] synonym: "steroid-modified tinea infection" EXACT [] xref: ICD10CM:B36.9 xref: MESH:D010854 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:421 ! hair disease [Term] id: DOID:0050134 name: cutaneous mycosis def: "A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. (DO)" [http://en.wikipedia.org/wiki/Mycoses "DO", http://jama.ama-assn.org/cgi/reprint/61/6/407 "DO"] is_a: DOID:1564 ! fungal infectious disease is_a: DOID:16 ! integumentary system disease created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050135 name: subcutaneous mycosis def: "A fungal infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Fungi, which penetrate the dermis or even deeper during or after a skin trauma. (DO)" [https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses "DO"] xref: MONDO:0000255 is_a: DOID:1564 ! fungal infectious disease created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050136 name: systemic mycosis def: "A fungal infectious disease that results_in infection of internal organs and tissues located_in human body, has_material_basis_in Fungi, which enter the body via the respiratory tract, through the gut, paranasal sinuses or skin and spread through the bloodstream to multiple organs. (DO)" [http://dermnetnz.org/fungal/systemic-mycoses.html "DO", http://www.mycology.adelaide.edu.au/Mycoses/ "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 "DO"] is_a: DOID:1564 ! fungal infectious disease created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050138 name: podoconiosis def: "An elephantiasis that is characterized by lymphadema located_in the lower extremities caused by a genetically determined abnormal inflammatory reaction to mineral particles in irritant red clay soils derived from volcanic deposits. (DO)" [https://en.wikipedia.org/wiki/Podoconiosis "DO"] synonym: "mossy foot" EXACT [] synonym: "non-filarial elephantiasis" EXACT [] synonym: "PDCOS" EXACT [] synonym: "podoconioses" EXACT [] xref: EFO:0004712 xref: MIM:614590 is_a: DOID:4976 ! elephantiasis [Term] id: DOID:0050140 name: acute diarrhea def: "A diarrhea that is of rapid onset and course characterized by frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. (DO)" [http://en.wikipedia.org/wiki/Diarrhea "DO"] is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050141 name: intestinal botulism def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) in adults, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by ingestion of bacterial spores, which then grow in the intestine and release toxins. (DO)" [http://www.who.int/mediacentre/factsheets/fs270/en/ "DO", https://jnnp.bmj.com/content/75/suppl_3/iii35 "DO"] is_a: DOID:11976 ! botulism created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050143 name: asymptomatic dengue def: "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28107858/ "DO", https://pubmed.ncbi.nlm.nih.gov/29111183/ "DO"] is_a: DOID:12205 ! dengue disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050144 name: Kartagener syndrome def: "A primary ciliary dyskinesia that is characterized by sinusitis, bronchiectasis and situs inversus with dextrocardia resulting from dysfunction of the cilia during embryologic development. (DO)" [http://en.wikipedia.org/wiki/Situs_inversus#Kartagener_syndrome "DO", http://rarediseases.info.nih.gov/gard/6815/kartagener-syndrome/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19529061 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23243352 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24019633 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25633235 "DO"] synonym: "dextrocardia, bronchiectasis, and sinusitis" EXACT [] synonym: "immotile cilia syndrome, Kartagener type" EXACT [] synonym: "Kartagener's syndrome" EXACT [] synonym: "Kartagener's Triad" EXACT [] synonym: "Kartageners syndrome" EXACT [] synonym: "Kartageners triad" EXACT [] synonym: "Kartagener triad" EXACT [] synonym: "primary ciliary dyskinesia, Kartagener type" EXACT [] synonym: "Siewert syndrome" EXACT [] xref: EFO:1001352 xref: GARD:6815 xref: MESH:D007619 xref: NCI:C84797 xref: ORDO:98861 is_a: DOID:9007870 ! Respiratory System Abnormalities is_a: DOID:9562 ! primary ciliary dyskinesia is_a: DOID:9563 ! bronchiectasis is_a: DOID:9565 ! dextrocardia [Term] id: DOID:0050145 name: adenoiditis def: "An upper respiratory tract disease which involves inflammation, pain, and swelling of the adenoid tissue due to the infection by bacteria and viruses. It occurs primarily in children and may be secondary to an allergy, infection of nose or throat and an obstruction of the eustachian tube. The infection has symptom pain, has symptom redness, has symptom swelling, and has symptom difficulty swallowing. (DO)" [http://books.google.com/books?id=6_BPQKPlYzcC&pg=PA96&lpg=PA96&dq#v=onepage&q=&f=false "DO", http://en.wikipedia.org/wiki/Adenoiditis "DO"] synonym: "chronic adenoiditis" EXACT [] xref: ICD10CM:J35.02 xref: ICD9CM:474.01 xref: RDO:9004975 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0050147 name: otomycosis def: "An otitis externa which is a disease of the ear produced by the growth of fungi in the external auditory canal. It is characterized by inflammation, pruritus, scaling and severe discomfort. The most common fungi are Aspergillus niger and Candida albicans. (DO)" [http://en.wikipedia.org/wiki/Otomycosis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otomycosis "DO"] synonym: "otomycoses" EXACT [] synonym: "Singapore ear" EXACT [] xref: MESH:D059249 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:9463 ! otitis externa [Term] id: DOID:0050148 name: laryngotracheitis def: "An upper respiratory tract disease involving inflammation of both larynx and trachea often caused by viral infection. The infection can close off the windpipe. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngotracheitis "DO"] xref: ICD10CM:J04 xref: ICD10CM:J37.1 xref: ICD9CM:464 xref: ICD9CM:476.1 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0050150 name: Pontiac fever def: "A legionellosis that involves a milder respiratory illness without pneumonia. Symptoms include fever, headache and muscle aches which last for 2 to 5 days. (DO)" [http://www.cdc.gov/legionella/patient_facts.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/623097 "DO"] is_a: DOID:10458 ! legionellosis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050152 name: aspiration pneumonia def: "A bacterial pneumonia which is an acute pulmonary inflammatory response that develops after the inhalation of colonized oropharyngeal material containing bacteria. It is seen in individuals with dysphagia and gastric dysmotility. The disease has_symptom tachypnea and has_symptom cough. (DO)" [https://en.wikipedia.org/wiki/Aspiration_pneumonia "DO"] synonym: "Acid Aspiration Syndrome" EXACT [] synonym: "acid aspiration syndromes" EXACT [] synonym: "Aspiration Pneumonias" EXACT [] synonym: "Gastric Acid Aspiration Syndrome" EXACT [] synonym: "Mendelson's Syndrome" EXACT [] synonym: "Mendelsons Syndrome" EXACT [] synonym: "Mendelson syndrome" EXACT [] xref: MESH:D011015 is_a: DOID:874 ! bacterial pneumonia [Term] id: DOID:0050153 name: pulmonary aspergilloma def: "An aspergillosis that presents as a clump of tangled mass of Aspergillus fungus fibres, blood clots, and white blood cells, which exists in the cavities of the lungs that develop in an area of previous lung disease or lung scarring. (DO)" [http://www.merck.com/mmhe/sec17/ch197/ch197b.html?qt=invasive%20pulmonary%20aspergillosis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001326.htm "DO"] xref: EFO:1001834 xref: RDO:9002381 is_a: DOID:0050073 ! invasive aspergillosis created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:0050155 name: sensory system disease alt_id: DOID:9003045 def: "A nervous system disease which is located in a part of the nervous system responsible for processing sensory information that consists of sensory receptors, neural pathways, and parts of the brain involved in sensory perception. Commonly recognized sensory systems are those for vision, hearing, somatic sensation (touch), taste and olfaction (smell). (DO)" [http://en.wikipedia.org/wiki/Sensory_system "DO"] synonym: "disturbances of sensation of smell and taste" NARROW [] synonym: "Sensation Disorder" EXACT [] synonym: "Sensation Disorders" EXACT [] synonym: "Sensory Disorder" EXACT [] synonym: "Sensory Disorders" EXACT [] synonym: "sensory system diseases" EXACT [] synonym: "Special Senses Disorder" EXACT [] synonym: "Special Senses Disorders" EXACT [] xref: EFO:0001058 xref: EFO:0009543 xref: MESH:D012678 is_a: DOID:4 ! disease is_a: DOID:863 ! nervous system disease is_a: DOID:9003814 ! Neurologic Manifestations created_by: rgd creation_date: 2017-04-18T00:00:00Z [Term] id: DOID:0050156 name: idiopathic pulmonary fibrosis def: "A pulmonary fibrosis that is characterized by scarring of the lung characterized by stiffness in the lungs and makes it difficult to breathe. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32855221/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK448162/ "DO", https://www.nhlbi.nih.gov/health/idiopathic-pulmonary-fibrosis "DO", https://www.pulmonaryfibrosis.org/life-with-pf/about-ipf "DO"] synonym: "cryptogenic fibrosing alveolitides" EXACT [] synonym: "cryptogenic fibrosing alveolitis" EXACT [] synonym: "EFO:0000768" EXACT [] synonym: "familial idiopathic pulmonary fibrosis" EXACT [] synonym: "fibrocystic pulmonary dysplasia" EXACT [] synonym: "fibrocystic pulmonary dysplasias" EXACT [] synonym: "Hamman Rich disease" NARROW [] synonym: "Hamman-Rich diseases" NARROW [] synonym: "Idiopathic Fibrosing Alveolitis, Chronic Form" EXACT [] synonym: "idiopathic pulmonary fibroses" EXACT [] synonym: "idiopathic pulmonary fibrosis, susceptibility to" RELATED [] synonym: "IPF" EXACT [] synonym: "UIP Hamman Rich disease" NARROW [] synonym: "usual interstitial pneumonia" RELATED [] synonym: "usual interstitial pneumonias" RELATED [] synonym: "usual interstitial pneumonitides" RELATED [] synonym: "usual interstitial pneumonitis" RELATED [] xref: EFO:0000768 xref: GARD:8609 xref: ICD10CM:J84.112 xref: ICD9CM:516.31 xref: MESH:D054990 xref: MIM:178500 xref: NCI:C35715 xref: NCI:C35716 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3770 ! pulmonary fibrosis [Term] id: DOID:0050157 name: cryptogenic organizing pneumonia def: "An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. (DO)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"] synonym: "BOOP" EXACT [] synonym: "bronchiolitis obliterans organising pneumonia" EXACT [] synonym: "bronchiolitis obliterans organizing pneumonia" EXACT [] synonym: "cryptogenic organising pneumonia" EXACT [] synonym: "Cryptogenic organising pneumonitis" EXACT [] synonym: "Cryptogenic Organizing Pneumonias" EXACT [] synonym: "cryptogenic organizing pneumonitis" EXACT [] synonym: "idiopathic bronchiolitis obliterans with organising pneumonia" EXACT [] synonym: "idiopathic bronchiolitis obliterans with organizing pneumonia" EXACT [] xref: EFO:1001300 xref: GARD:1620 xref: ICD10CM:J84.116 xref: ICD9CM:516.36 xref: MESH:D018549 xref: NCI:C62586 is_a: DOID:2797 ! idiopathic interstitial pneumonia is_a: DOID:9003073 ! Organizing Pneumonia [Term] id: DOID:0050158 name: desquamative interstitial pneumonia alt_id: MIM:263000 def: "An idiopathic interstitial pneumonia that is characterized by the accumulation of bronchiolocentric alveolar macrophages in alveolar spaces and interstitial inflammation and involves mild bronchiolar fibrosis and chronic inflammation. (DO)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16142185 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16456642 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23001799 "DO"] synonym: "DIP" EXACT [] synonym: "familial desquamative interstitial pneumonia" EXACT [] synonym: "familial desquamative interstitial pneumonitis" EXACT [] synonym: "ILD, DESQUAMATIVE" EXACT [] synonym: "Interstitial Lung Disease, Desquamative" EXACT [] synonym: "RBILD" EXACT [] synonym: "respiratory bronchiolitis-associated interstitial lung disease" EXACT [] xref: ICD10CM:J84.117 xref: ICD9CM:516.37 xref: MESH:C562470 xref: NCI:C35288 is_a: DOID:2797 ! idiopathic interstitial pneumonia is_a: DOID:3082 ! interstitial lung disease is_a: DOID:630 ! genetic disease [Term] id: DOID:0050159 name: lymphoid interstitial pneumonia def: "An idiopathic interstitial pneumonia which involves diffuse interstitial infiltration of involved areas mostly with T lymphocytes, plasma cells, and macrophages. Lymphoid hyperplasia is frequently seen. Onset is often slow with gradually increasing cough and breathlessness over 3 or more years. Fever, weight loss, chest pain, and arthralgia are occasionally found. Crackles may be detected as the disease progresses. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"] synonym: "lymphocytic interstitial pneumonia" EXACT [] synonym: "lymphocytic interstitial pneumonitis" EXACT [] xref: ICD10CM:J84.2 xref: MESH:C562489 xref: MIM:247610 xref: MONDO:0009537 xref: NCI:C27558 xref: ORDO:79128 is_a: DOID:2797 ! idiopathic interstitial pneumonia [Term] id: DOID:0050160 name: inhalation anthrax def: "An anthrax disease that results in infection located in lung lymph nodes brought on by breathing in the spores of the bacteria Bacillus anthracis. The first symptoms of inhalation anthrax are like cold or flu symptoms and can include a sore throat, mild fever and muscle aches. Later symptoms include cough, chest discomfort, shortness of breath, tiredness and muscle aches. (DO)" [https://medlineplus.gov/ency/article/001325.htm "DO", https://www.cdc.gov/anthrax/basics/types/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/11988441 "DO"] synonym: "pulmonary anthrax" EXACT [] synonym: "respiratory anthrax" EXACT [] synonym: "wool-sorters' disease" EXACT [] synonym: "woolsorters' disease" EXACT [] xref: MESH:C571912 is_a: DOID:7427 ! anthrax disease [Term] id: DOID:0050161 name: lower respiratory tract disease def: "A respiratory system disease which involves the lower respiratory tract. (DO)" [http://en.wikipedia.org/wiki/lower_respiratory_tract "DO"] xref: EFO:0009433 xref: RDO:9004972 is_a: DOID:1579 ! respiratory system disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0050166 name: tuberculous salpingitis def: "An urogenital tuberculosis that results_in formation of granulomas located_in fallopian tube. (DO)" [http://books.google.com/books?id=tuKGMxGRKa8C&pg=PA627&lpg=PA627&dq#v=onepage&q&f=false "DO"] xref: ICD10CM:A18.17 xref: ICD9CM:016.6 is_a: DOID:1962 ! fallopian tube disease is_a: DOID:2149 ! urogenital tuberculosis [Term] id: DOID:0050167 name: autoimmune polyendocrine syndrome type 1 alt_id: MIM:240300 def: "An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO)" [https://rarediseases.info.nih.gov/diseases/8466/autoimmune-polyglandular-syndrome-type-1 "DO"] synonym: "APS1" EXACT [] synonym: "APS I" EXACT [] synonym: "APS type 1" EXACT [] synonym: "autoimmune polyendocrine syndrome type I, with or without reversible metaphyseal dysplasia" EXACT [] synonym: "autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy" EXACT [] synonym: "autoimmune polyendocrinopathy syndrome type 1" EXACT [] synonym: "autoimmune polyendocrinopathy syndrome type I" EXACT [] synonym: "autoimmune polyendocrinopathy syndrome type I, autosomal dominant" EXACT [] synonym: "autoimmune polyendocrinopathy syndrome type I, with reversible metaphyseal dysplasia" EXACT [] synonym: "autoimmune polyglandular syndrome I" EXACT [] synonym: "autoimmune polyglandular syndrome type 1" EXACT [] synonym: "autoimmune polyglandular syndrome type I" EXACT [] synonym: "hypoadrenocorticism with hypoparathyroidism and superficial moniliasis" EXACT [] synonym: "PGA I" EXACT [] synonym: "polyglandular deficiency syndrome, Persian-Jewish type" NARROW [] synonym: "Whitaker syndrome" EXACT [] xref: GARD:8466 xref: MESH:C538275 is_a: DOID:14040 ! autoimmune polyendocrine syndrome [Term] id: DOID:0050168 name: autoimmune polyendocrine syndrome type 2 def: "An autoimmune polyendocrine syndrome that is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. It is more heterogeneous and has not been linked to one gene. (DO)" [http://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome_type_2 "DO"] synonym: "APS2" EXACT [] synonym: "autoimmune polyendocrine syndrome type II" EXACT [] synonym: "autoimmune polyglandular syndrome type II" EXACT [] synonym: "multiple endocrine deficiency syndrome, type 2" EXACT [] synonym: "polyglandular autoimmune syndrome, type 2" EXACT [] synonym: "polyglandular deficiency syndrome, type 2" EXACT [] synonym: "Schmidt's syndrome" EXACT [] synonym: "Schmidt syndrome" EXACT [] xref: GARD:7611 xref: MIM:269200 is_a: DOID:14040 ! autoimmune polyendocrine syndrome created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050169 name: cutaneous lupus erythematosus def: "A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3927537/ "DO"] synonym: "subacute cutaneous lupus erythematosus" EXACT [] xref: EFO:0003834 xref: GARD:6225 xref: MESH:D008178 xref: MONDO:0005282 is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease is_a: DOID:8857 ! lupus erythematosus [Term] id: DOID:0050174 name: Kunjin encephalitis def: "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/2552010 "DO", https://www.health.nsw.gov.au/Infectious/factsheets/Pages/kunjin_virus.aspx "DO"] is_a: DOID:2365 ! West Nile encephalitis [Term] id: DOID:0050175 name: tick-borne encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Tick-borne encephalitis virus, which is transmitted_by Ixodes ticks. The infection has_symptom drowsiness, has_symptom confusion, has_symptom sensory disturbances, and has_symptom paralysis. (DO)" [http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/TBE.htm "DO"] synonym: "Central European Encephalitis" EXACT [] synonym: "European Tick-Borne Encephalitides" EXACT [] synonym: "European Tick Borne Encephalitis" EXACT [] synonym: "Far Eastern Russian Encephalitis" EXACT [] synonym: "Far Eastern TBE" EXACT [] synonym: "Louping Ill Encephalitides" EXACT [] synonym: "Louping Ill Encephalitis" EXACT [] synonym: "Russian Spring Summer Encephalitis" EXACT [] synonym: "Siberian tick-borne encephalitis" EXACT [] synonym: "taiga encephalitis" EXACT [] synonym: "Tick-Borne Encephalitides" EXACT [] synonym: "Western European tick-borne encephalitis" EXACT [] synonym: "west-Siberian encephalitis" EXACT [] xref: EFO:1001309 xref: GARD:5216 xref: ICD10CM:A84.1 xref: ICD9CM:063.2 xref: MESH:D004675 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:0050177 name: monogenic disease def: "A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. (DO)" [https://www.genome.gov/For-Patients-and-Families/Genetic-Disorders "DO"] is_a: DOID:630 ! genetic disease created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050179 name: Powassan encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Powassan virus, which is transmitted_by Ixodes and transmitted_by Dermacentor species of ticks. The infection has_symptom headache, has_symptom fever, has_symptom vomiting, has_symptom stiff neck, has_symptom sleepiness, has_symptom breathing distress, has_symptom tremors, has_symptom confusion, has_symptom seizures, has_symptom paralysis, and has_symptom coma. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC5732952/ "DO"] synonym: "Powassan Encephalitides" EXACT [] xref: RDO:9002648 is_a: DOID:0050175 ! tick-borne encephalitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050185 name: erythema multiforme def: "A skin disease that is a type of allergic reaction located_in skin, which occurs in response to medications, infections, or illness. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000851.htm "DO"] xref: EFO:1000694 xref: GARD:6372 xref: MESH:D004892 is_a: DOID:1205 ! allergic disease is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:9006976 ! Erythema [Term] id: DOID:0050192 name: Nipah virus encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Nipah virus, which is transmitted_by direct contact with sick person or animals, or their contaminated tissues. The infection has_symptom dizziness, has_symptom drowsiness, has_symptom altered consciousness, has_symptom disorientation, and has_symptom coma. (DO)" [https://www.cdc.gov/vhf/nipah/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/19141846 "DO", https://www.who.int/csr/disease/nipah/en/ "DO"] is_a: DOID:646 ! viral encephalitis is_a: DOID:9001406 ! Henipavirus Infections [Term] id: DOID:0050194 name: Argentine hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. (DO)" [http://en.wikipedia.org/wiki/Argentine_hemorrhagic_fever "DO", http://www.jstor.org/stable/30129873?seq=1 "DO"] xref: RDO:9004295 is_a: DOID:9006665 ! Arenavirus hemorrhagic fever is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050195 name: Bolivian hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus machupoense, which is transmitted_by vesper mouse, Calomys callosus. The infection has_symptom fever, has_symptom headache, has_symptom fatigue, has_symptom myalgia, has_symptom arthralgia, has_symptom bleeding from the oral and nasal mucosa, and has_symptom bleeding from the bronchopulmonary, gastrointestinal and genitourinary tracts. (DO)" [http://www.cdc.gov/ncidod/eid/vol1no3/kilgore.htm "DO"] xref: MESH:D006478 is_a: DOID:3944 ! Arenaviridae infectious disease is_a: DOID:9006665 ! Arenavirus hemorrhagic fever is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050196 name: Venezuelan hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus guanaritoense, which is transmitted_by cotton rat, Sigmodon alstoni or transmitted_by cane mouse, Zygodontomys brevicauda. The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom sore throat, has_symptom weakness, has_symptom anorexia, has_symptom nausea, has_symptom vomiting, has_symptom convulsions, has_symptom epistaxis, has_symptom bleeding gums, has_symptom hematemesis, has_symptom melena, and has_symptom menorrhagia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34917387/ "DO", https://pubmed.ncbi.nlm.nih.gov/7840443/ "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050197 name: Brazilian hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus brazilense, which is transmitted by rodents. The infection has symptom fever, has symptom eye redness, has symptom fatigue, has symptom dizziness, has symptom muscle aches, has symptom loss of strength, and has symptom bleeding under the skin, internal organs, or from body orifices like the mouth, eyes or ears. (DO)" [http://en.wikipedia.org/wiki/Brazilian_hemorrhagic_fever "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7905555 "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050198 name: Chapare hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus chapareense. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/18421377 "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050199 name: Whitewater Arroyo hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus whitewaterense, which is transmitted_by white-throated woodrats (Neotoma albigula). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, and has_symptom hemorrhagic manifestations. (DO)" [http://jama.ama-assn.org/cgi/content/full/284/10/1237 "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/1799746 "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050200 name: Korean hemorrhagic fever def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload. (DO)" [http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false "DO", http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/1349231 "DO"] is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050201 name: nephropathia epidemica def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Orthohantavirus puumalaense, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1349231 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2574903 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2902106 "DO"] is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050202 name: lujo hemorrhagic fever def: "A viral infectious disease that results_in infection, has_material_basis_in Lujo virus, which has_symptom bleeding. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/19478873 "DO"] xref: RDO:9004301 is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050204 name: Epstein-Barr virus hepatitis def: "A viral hepatitis that results_in inflammation, located_in liver, has_material_basis_in Human herpesvirus 4 and has_symptom headache, has_symptom fatigue, has_symptom fever, has_symptom abdominal pain, has_symptom nausea, and has_symptom jaundice. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16711324 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17602362 "DO"] is_a: DOID:2938 ! Epstein-Barr virus infectious disease is_a: DOID:9007329 ! Human Viral Hepatitis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050211 name: swine influenza def: "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea. (DO)" [http://www.cdc.gov/flu/swineflu/key_facts.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/9140195 "DO"] xref: EFO:0005226 xref: RDO:9002858 is_a: DOID:8469 ! influenza created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050214 name: Lambert-Eaton myasthenic syndrome def: "A neuromuscular junction disease that is characterized by an abnormality of acetylcholine (ACh) release at the neuromuscular junction which results from an autoimmune attack against voltage-gated calcium channels (VGCC) on the presynaptic motor nerve terminal. (DO)" [http://en.wikipedia.org/wiki/Lambert%E2%80%93Eaton_myasthenic_syndrome "DO"] synonym: "Eaton-Lambert Myasthenic-Myopathic Syndrome" EXACT [] synonym: "Eaton-Lambert Myopathic-Myasthenic Syndromes" EXACT [] synonym: "Eaton Lambert Syndrome" EXACT [] synonym: "LEMS" EXACT [] synonym: "myasthenic-myopathic syndrome of Eaton Lambert" EXACT [] xref: ICD10CM:G70.80 xref: ICD9CM:358.3 xref: MESH:D015624 xref: NCI:C3155 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:439 ! neuromuscular junction disease is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes [Term] id: DOID:0050218 name: polycystic echinococcosis def: "An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. (DO)" [http://en.wikipedia.org/wiki/Echinococcosis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Echinococcosis.htm "DO"] synonym: "human polycystic hydatid disease" EXACT [] synonym: "neotropical echinococcosis" EXACT [] xref: RDO:9002368 is_a: DOID:1496 ! echinococcosis is_a: DOID:409 ! liver disease created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:0050222 name: selective IgM deficiency disease def: "A selective immunoglobulin deficiency disease thatis a dysgammaglobulinemia resulting from decreased levels of immunoglobulin M (IgM) production to roduction of other antibodies. (DO)" [http://en.wikipedia.org/wiki/IgM "DO", http://en.wikipedia.org/wiki/Isolated_primary_immunoglobulin_M_deficiency "DO"] xref: RDO:9002617 is_a: DOID:11702 ! dysgammaglobulinemia created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050242 name: primary amebic meningoencephalitis def: "A parasitic protozoa infectious disease that involves infection of the central nervous system caused by Naegleria fowleri. The symptoms include headache, nausea, rigidity of the neck muscles, vomiting, delirium, seizures and coma. (DO)" [http://en.wikipedia.org/wiki/Primary_amoebic_meningoencephalitis "DO", http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm "DO"] synonym: "Meningoencephalitis caused by Naegleria fowleri" EXACT [] synonym: "Naegleria fowleri infection" EXACT [] xref: GARD:9554 is_a: DOID:9002216 ! Central Nervous System Protozoal Infections is_a: DOID:9181 ! amebiasis [Term] id: DOID:0050246 name: granulomatous amebic encephalitis def: "A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/FreeLivingAmebic.htm "DO"] synonym: "acanthamoeba encephalitis" EXACT [] synonym: "acanthamoeba granulomatous encephalitis" EXACT [] synonym: "granulomatous amebic encephalitis due to acanthamoeba" EXACT [] synonym: "granulomatous amoebic encephalitis" EXACT [] xref: GARD:12651 is_a: DOID:0050242 ! primary amebic meningoencephalitis is_a: DOID:9002366 ! Protozoan Encephalitis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050250 name: philophthalmiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the eyes by Philophthalmus species. External ocular philophthalmiasis manifests as follicular conjunctivitis and superficial keratitis. Sub-conjunctival ocular philophthalmiasis consists of a mild edema with minimal cellular reaction. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Philophthalmiasis.htm "DO"] is_a: DOID:5614 ! eye disease is_a: DOID:888 ! fasciolopsiasis created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050251 name: coenurosis def: "A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. (DO)" [https://en.wikipedia.org/wiki/Coenurosis "DO", https://www.cdc.gov/dpdx/coenurosis/index.html "DO"] is_a: DOID:0050596 ! taeniasis is_a: DOID:37 ! skin disease is_a: DOID:9004805 ! Central Nervous System Parasitic Infections created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050253 name: mesocestoidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic cestode infection caused by Mesocestoides lineatus resulting in nausea, diarrhea, abdominal discomfort and vomiting. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Mesocestoidiasis.htm "DO"] xref: RDO:9002492 is_a: DOID:9006970 ! Cestode Infections created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050254 name: acanthocephaliasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools. (DO)" [https://www.cdc.gov/dpdx/acanthocephaliasis/index.html "DO"] xref: RDO:9002493 is_a: DOID:9001455 ! Intestinal Helminthiasis created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050256 name: angiostrongyliasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine, central nervous system and eyes by Angiostrongylus cantonensis or Angiostrongylus costaricensis. (DO)" [https://en.wikipedia.org/wiki/Angiostrongyliasis "DO"] synonym: "abdominal angiostrongyliasis" EXACT [] synonym: "Angiostrongylus cantonensis infection" EXACT [] synonym: "Angiostrongylus costaricensis infection" EXACT [] synonym: "human eosinophilic meningitis" EXACT [] synonym: "Intravitreal angiostrongyliasis" EXACT [] synonym: "Parastrongylus costaricensis infection" EXACT [] synonym: "rat lungworm infection" EXACT [] xref: GARD:683 xref: MESH:C536369 is_a: DOID:9000928 ! Central Nervous System Helminthiasis is_a: DOID:9001455 ! Intestinal Helminthiasis is_a: DOID:9003369 ! Strongylida Infections is_a: DOID:9004432 ! Parasitic Eye Infections [Term] id: DOID:0050259 name: baylisascariasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine caused by the larvae of Baylisascaris procyonis, which can invade the spinal cord, brain, and eye of humans, resulting in permanent neurologic damage, blindness, or death. (DO)" [https://en.wikipedia.org/wiki/Baylisascaris "DO"] is_a: DOID:319 ! spinal cord disease is_a: DOID:5614 ! eye disease is_a: DOID:9001455 ! Intestinal Helminthiasis is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050260 name: dioctophymiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the nematode Dioctophyme renale in humans after eating undercooked food. The larvae are found in the subcutaneous nodules and kidneys. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Dioctophymiasis.htm "DO"] is_a: DOID:557 ! kidney disease is_a: DOID:9000395 ! Ascaridida Infections is_a: DOID:9007630 ! Parasitic Skin Diseases created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0050261 name: thelaziasis def: "A parasitic helminthiasis infectious diseasea that involves infection of the eyes in humans by nematode Thelazia callipaeda causing varying degrees of inflammation and lacrimation. In heavier infections, photophobia, edema, conjunctivitis, and blindness occurs. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Thelaziasis.htm "DO"] is_a: DOID:9002992 ! Nematode Infections is_a: DOID:9004432 ! Parasitic Eye Infections created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050266 name: tungiasis def: "A parasitic ectoparasitic infectious disease that is an inflammatory skin disease caused by the parasitic infestation of the female chigoe flea, Tunga penetrans in animals and humans. The symptoms include skin inflammation, severe pain, itching, and a lesion at the site of infection that is characterized by a black dot at the center of a swollen red lesion, surrounded a white halo. (DO)" [http://en.wikipedia.org/wiki/Tungiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Tungiasis.htm "DO"] xref: EFO:1001445 xref: GARD:393 xref: MESH:D058285 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease is_a: DOID:9005296 ! Flea Infestations [Term] id: DOID:0050268 name: ophthalmomyiasis def: "A myiasis that involves parasitic infestation of Oestrus ovis larvae in the eye causing severe irritation, edema, and pain. (DO)" [http://en.wikipedia.org/wiki/Myiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"] is_a: DOID:11080 ! myiasis is_a: DOID:5614 ! eye disease [Term] id: DOID:0050269 name: Trichomonas vaginalis trichomoniasis def: "A trichomoniasis that involves infection of the urogenital tract, has_material_basis_in Trichomonas vaginalis, which is transmitted through sexual contact. Symptoms include inflammation of the cervix, urethra and vagina which produce an itching or burning sensation, and yellow-green, itchy, frothy foul-smelling vaginal discharge. (DO)" [http://en.wikipedia.org/wiki/Trichomoniasis "DO"] synonym: "Trichomonas Vaginitides" EXACT [] synonym: "Trichomonas vaginitis" EXACT [] synonym: "urogenital trichomonas" EXACT [] xref: EFO:0007521 xref: ICD10CM:A59.00 xref: MESH:D014247 xref: NCI:C35083 is_a: DOID:1947 ! trichomoniasis is_a: DOID:2059 ! vulvar disease is_a: DOID:2170 ! vaginitis is_a: DOID:2253 ! cervix disease is_a: DOID:732 ! urethral disease [Term] id: DOID:0050270 name: Trichomonas tenax trichomoniasis def: "A trichomoniasis that is caused by a singled-celled protozoan parasite Trichomonas tenax, which is transmitted through oral droplets, by kissing, or on fomites such as eating utensils. Trichomonas tenax causes periodonitis and bronchopulmonary trichomoniasis by aspiration from the oropharynx. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4222 "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/20427914 "DO"] is_a: DOID:1947 ! trichomoniasis is_a: DOID:403 ! mouth disease [Term] id: DOID:0050278 name: basidiobolomycosis def: "A subcutaneous mycosis that involves a chronic inflammatory or granulomatous fungal infection of the subcutaneous tissue of the limbs, chest, back or buttocks caused by Basidiobolus ranarum. Lesions appear as subcutaneous nodules which develop into massive, firm, indurated, painless swellings which are freely movable over the underlying muscle, but are attached to the skin which may become hyperpigmented but not ulcerated. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ "DO"] xref: RDO:9003673 is_a: DOID:0050135 ! subcutaneous mycosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050279 name: conidiobolomycosis def: "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/ "DO"] xref: RDO:9003674 is_a: DOID:0050135 ! subcutaneous mycosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050288 name: penicilliosis def: "An opportunistic mycosis that has_material_basis_in Penicillium marneffei, results_in systemic infection and has_symptom fever, has_symptom anemia, has_symptom weight loss, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom respiratory signs, and has_symptom skin lesions. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/16418525 "DO"] is_a: DOID:0050136 ! systemic mycosis is_a: DOID:2473 ! opportunistic mycosis created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050289 name: fusariosis def: "An opportunistic mycosis that involves localized or hematogenously disseminated fungal infection by Fusarium solani or Fusarium oxysporum. Skin lesions are seen in neutropenic patients, and indolent cellulitis or soft-tissue necrosis occur in immunocompromised patients at the site of trauma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14748803 "DO"] synonym: "disseminated fusarioses" EXACT [] synonym: "Disseminated Fusariosis" EXACT [] synonym: "Fusarioses" EXACT [] synonym: "Fusarium Infection" EXACT [] synonym: "Fusarium Infections" EXACT [] synonym: "Invasive Fusarioses" EXACT [] synonym: "Invasive Fusariosis" EXACT [] synonym: "Invasive Pulmonary Fusarioses" EXACT [] synonym: "Invasive Pulmonary Fusariosis" EXACT [] synonym: "Pulmonary Fusarioses" EXACT [] synonym: "pulmonary fusariosis" EXACT [] xref: EFO:1001795 xref: MESH:D060585 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:9007316 ! Hyalohyphomycosis [Term] id: DOID:0050290 name: trichosporonosis def: "An opportunistic mycosis that results_in disseminated infection, has_material_basis_in Trichosporon and results_in_formation_of nontender erythematous nodules anywhere on the body. (DO)" [https://en.wikipedia.org/wiki/Trichosporonosis "DO"] synonym: "disseminated trichosporonoses" EXACT [] synonym: "Disseminated Trichosporonosis" EXACT [] synonym: "Invasive Trichosporonoses" EXACT [] synonym: "Invasive Trichosporonosis" EXACT [] synonym: "Japanese Summer Type Hypersensitivity Pneumonitis" EXACT [] synonym: "Summer-Type Hypersensitivity Pneumonitides" EXACT [] synonym: "Summer Type Hypersensitivity Pneumonitis" EXACT [] synonym: "trichosporonoses" EXACT [] xref: MESH:D060586 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:0050291 name: parasitic Ichthyosporea infectious disease def: "A parasitic infectious disease that involves parasitic infection by the members of the class Ichthyosporea, which are parasites of fish and other animals. (DO)" [http://en.wikipedia.org/wiki/Mesomycetozoea "DO"] is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9004157 ! Protozoan Infections, Animal created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:0050292 name: primary systemic mycosis def: "A systemic mycosis that results_in infection located_in human body, has_material_basis_in Fungi, which can overcome the physiological and cellular defences of the normal human host. The primary deep pathogens usually gain access to the host via the respiratory tract. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/ "DO"] is_a: DOID:0050136 ! systemic mycosis created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:0050304 name: aniseikonia def: "A refractive error that is characterized by the significant difference in perceived sizes of an object between the two eyes. (DO)" [https://en.wikipedia.org/wiki/Aniseikonia "DO"] xref: EFO:1001266 xref: MESH:D000839 is_a: DOID:9835 ! refractive error [Term] id: DOID:0050308 name: Alkhurma hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted by Ornithodoros savignyi tick bite, transmitted by ingestion of unpasteurized camel milk, or transmitted by entry via skin wound. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom thrombocytopenia, and has symptom hemorrhagic fever. (DO)" [http://en.wikipedia.org/wiki/Alkhurma_virus "DO"] is_a: DOID:11320 ! Kyasanur forest disease [Term] id: DOID:0050328 name: congenital hypothyroidism alt_id: MIM:228355 def: "A hypothyroidism that is present at birth. (DO)" [http://en.wikipedia.org/wiki/Congenital_hypothyroidism "DO", http://ghr.nlm.nih.gov/condition/congenital-hypothyroidism "DO"] synonym: "congenital myxedema" EXACT [] synonym: "Cretinism" EXACT [] synonym: "Endemic Cretinism" EXACT [] synonym: "experimental congenital hypothyroidism" NARROW [] synonym: "Fetal Iodine Deficiency Disorder" EXACT [] xref: GARD:1487 xref: ICD10CM:E00.1 xref: ICD9CM:243 xref: MESH:D003409 xref: MIM:PS275200 xref: NCI:C26734 xref: NCI:C98921 is_a: DOID:0080015 ! physical disorder is_a: DOID:1459 ! hypothyroidism is_a: DOID:9007661 ! Dwarfism is_a: DOID:9007819 ! Endocrine Bone Diseases [Term] id: DOID:0050331 name: lacrimoauriculodentodigital syndrome 1 alt_id: DOID:9004849 def: "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes. (DO)" [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=LADD%20Syndrome "DO"] synonym: "Lacrimo-auriculo-dento-digital syndrome 1" EXACT [] synonym: "LADD1" EXACT [] synonym: "LADD Syndrome 1" EXACT [] synonym: "Levy Hollister syndrome" EXACT [] xref: MIM:149730 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081370 ! LADD syndrome [Term] id: DOID:0050332 name: enlarged vestibular aqueduct def: "A vestibular disease that is characterized by progressive hearing loss resulting from congenital enlargement of the vestibular aqueducts. (DO)" [https://en.wikipedia.org/wiki/Enlarged_vestibular_aqueduct "DO"] synonym: "EVA" EXACT [] synonym: "large vestibular aqueduct" EXACT [] xref: GARD:8651 xref: RDO:9003730 is_a: DOID:3426 ! vestibular disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050335 name: bradyopsia def: "A retinal disease characterized by the slower than usual adaptation of the eyes to changing light conditions. (DO)" [https://medlineplus.gov/genetics/condition/bradyopsia/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17826834 "DO"] synonym: "PERRS" EXACT [] synonym: "prolonged electroretinal response suppression" EXACT [] xref: GARD:12299 xref: MESH:C564243 xref: MIM:PS608415 xref: ORDO:75374 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050336 name: hypophosphatemia def: "A phosphorus metabolism disease that is characterized by hypophosphatemia and the symptoms of osteomalacia including bone pain, skeletal deformities and osteoarthritis. (DO)" [https://en.wikipedia.org/wiki/Hypophosphatemia "DO"] synonym: "hypophosphatemias" EXACT [] xref: MESH:D017674 is_a: DOID:2485 ! phosphorus metabolism disease [Term] id: DOID:0050338 name: primary bacterial infectious disease alt_id: DOID:13238 def: "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread. (DO)" [http://en.wikipedia.org/wiki/Infectious_disease "DO"] synonym: "primary bacterial infectious diseases" EXACT [] is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:0050339 name: commensal bacterial infectious disease def: "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. (DO)" [https://www.microbiologyinpictures.com/introduction.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/24727150 "DO"] xref: RDO:9002545 is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:0050340 name: opportunistic bacterial infectious disease def: "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545 "DO"] is_a: DOID:104 ! bacterial infectious disease created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050352 name: foodborne botulism def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), which are transmitted by ingestion of food contaminated with preformed toxins, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. The infection has symptom blurred vision, has symptom diplopia, has symptom dysarthria, has symptom dysphonia, has symptom dysphagia and has symptom descending muscle paralysis. (DO)" [https://www.southernnevadahealthdistrict.org/Health-Topics/foodborne-botulism/ "DO"] is_a: DOID:11976 ! botulism created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050353 name: wound botulism def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F), has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F, which are transmitted by contact of spores with the open wounds, which then reproduce in an anaerobic environment to produce toxins. (DO)" [http://www.who.int/mediacentre/factsheets/fs270/en/ "DO"] synonym: "wound botulisms" EXACT [] xref: MONDO:0015803 is_a: DOID:11976 ! botulism created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050354 name: infant botulism def: "A botulism that involves intoxication caused by botulinum neurotoxins (BoNTA or B) in infants, has_material_basis_in Clostridium botulinum A or has_material_basis_in Clostridium botulinum B, which are transmitted_by ingestion of bacterial spores, which then grow in the intestine and release toxins. The infection has_symptom constipation, has_symptom lethargy, has_symptom difficulty feeding, has_symptom swallowing, has_symptom ptosis, has_symptom loss of head control, and has_symptom muscle weakness. (DO)" [https://www.aafp.org/afp/2002/0401/p1388.html "DO"] synonym: "infantile botulism" EXACT [] is_a: DOID:11976 ! botulism created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050382 name: glandular tularemia def: "A tularemia that results_in swelling of regional lymph glands. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"] is_a: DOID:2123 ! tularemia is_a: DOID:75 ! lymphatic system disease created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050383 name: typhoidal tularemia def: "A tularemia that results_in bacteremia and has_symptom fever, has_symptom chills, has_symptom myalgia, has_symptom malaise, and has_symptom weight loss. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29635071 "DO"] is_a: DOID:2123 ! tularemia created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050387 name: nonpapillary renal cell carcinoma def: "A hereditary renal cell carcinoma that has_material_basis_in a loss of 3p13-pter sequences. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2921777 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8415591 "DO"] is_a: DOID:4455 ! hereditary renal cell carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:0050398 name: Carrion's disease def: "A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. (DO)" [http://en.wikipedia.org/wiki/Carrion%27s_disease "DO"] synonym: "Carrion disease" EXACT [] synonym: "Carrions disease" EXACT [] synonym: "Oroya fever" EXACT [] xref: RDO:9002611 is_a: DOID:11102 ! bartonellosis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050419 name: complement factor I deficiency alt_id: MIM:610984 def: "A complement deficiency that is characterized by recurrent pyogenic bacterial infections that is the result of complement component 3 deficiency. (DO)" [https://www.omim.org/entry/610984 "DO"] synonym: "C3G2" EXACT [] synonym: "C3 glomerulopathy 2" EXACT [] synonym: "C3 inactivator deficiency" EXACT [] synonym: "CFID" EXACT [] synonym: "complement component 3 inactivator deficiency" EXACT [] xref: MESH:C572568 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0050424 name: familial adenomatous polyposis def: "An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. (DO)" [http://en.wikipedia.org/wiki/Familial_adenomatous_polyposis "DO", http://www.omim.org/entry/175100?search=adenomatous%20polyposis "DO"] synonym: "AAPC" NARROW [] synonym: "adenomatous colonic polyposis" EXACT [] synonym: "adenomatous intestinal polyposes" EXACT [] synonym: "Adenomatous Intestinal Polyposis" EXACT [] synonym: "Adenomatous Polyposis Coli" EXACT [] synonym: "ADENOMATOUS POLYPOSIS COLI, ATTENUATED" NARROW [] synonym: "Adenomatous Polyposis Colus" EXACT [] synonym: "Adenomatous Polyposis of the Colon" EXACT [] synonym: "APC" EXACT [] synonym: "APC-associated polyposis disorders" BROAD [] synonym: "BRAIN TUMOR-POLYPOSIS SYNDROME 2" NARROW [] synonym: "BTPS2" NARROW [] synonym: "CLASSIC OR ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS" BROAD [] synonym: "Familial Adenomatous Polyposes" EXACT [] synonym: "Familial Adenomatous Polyposis Coli" EXACT [] synonym: "Familial Adenomatous Polyposis of the Colon" EXACT [] synonym: "Familial Intestinal Polyposes" EXACT [] synonym: "Familial Intestinal Polyposis" EXACT [] synonym: "Familial Multiple Polyposes" EXACT [] synonym: "Familial Multiple Polyposi" EXACT [] synonym: "Familial Multiple Polyposis" EXACT [] synonym: "Familial Multiple Polyposis Syndrome" EXACT [] synonym: "Familial Multiple Polyposus" EXACT [] synonym: "Familial Polyposis Coli" EXACT [] synonym: "Familial Polyposis Colus" EXACT [] synonym: "Familial Polyposis of the Colon" EXACT [] synonym: "Familial Polyposis Syndrome" EXACT [] synonym: "Familial Polyposis Syndromes" EXACT [] synonym: "FPC" EXACT [] synonym: "HEREDITARY MIXED POLYPOSIS" NARROW [] synonym: "Hereditary Polyposis Coli" EXACT [] synonym: "Hereditary Polyposis Colus" EXACT [] synonym: "MYH-associated polyposes" BROAD [] synonym: "MYH-associated polyposis" BROAD [] synonym: "polymerase proofreading-related adenomatous polyposis" NARROW [] synonym: "polyposis coli" EXACT [] synonym: "polyposis colus" EXACT [] xref: EFO:1000633 xref: GARD:6408 xref: MESH:D011125 xref: MIM:PS175100 xref: NCI:C3339 xref: ORDO:733 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:6225 ! Cronkhite-Canada syndrome is_a: DOID:9001441 ! Adenomatous Polyps is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9008443 ! Colorectal Neoplasms [Term] id: DOID:0050425 name: restless legs syndrome alt_id: MIM:610438 alt_id: MIM:610439 alt_id: MIM:611185 alt_id: MIM:611242 alt_id: MIM:612853 alt_id: MIM:615197 def: "A central nervous system disease characterized by throbbing, pulling creeping or other unpleasant sensations in the legs and the irresistible urge to move them. (DO)" [http://en.wikipedia.org/wiki/Restless_legs_syndrome "DO", http://www.ninds.nih.gov/disorders/restless_legs/detail_restless_legs.htm "DO"] synonym: "Ekbom syndrome" EXACT [] synonym: "hereditary acromelalgia" EXACT [] synonym: "PERIODIC LIMB MOVEMENTS IN SLEEP" EXACT [] synonym: "Restless Legs" EXACT [] synonym: "restless legs syndrome, susceptibility to, 3" RELATED [] synonym: "restless legs syndrome, susceptibility to, 4" RELATED [] synonym: "restless legs syndrome, susceptibility to, 5" RELATED [] synonym: "restless legs syndrome, susceptibility to, 6" RELATED [] synonym: "restless legs syndrome, susceptibility to, 7" RELATED [] synonym: "restless legs syndrome, susceptibility to, 8" RELATED [] synonym: "Restless Leg Syndrome" EXACT [] synonym: "RLS3" RELATED [] synonym: "RLS4" RELATED [] synonym: "RLS5" RELATED [] synonym: "RLS6" RELATED [] synonym: "RLS7" RELATED [] synonym: "RLS8" RELATED [] synonym: "WED" EXACT [] synonym: "Willis Ekbom Disease" EXACT [] synonym: "Willis Ekbom Syndrome" EXACT [] synonym: "Wittmaack Ekbom syndrome" EXACT [] xref: EFO:0004270 xref: GARD:11926 xref: ICD10CM:G25.81 xref: ICD9CM:333.94 xref: MESH:D012148 xref: MIM:PS102300 xref: NCI:C84501 is_a: DOID:225 ! syndrome is_a: DOID:9000166 ! Intrinsic Sleep Disorders is_a: DOID:9004040 ! Parasomnias [Term] id: DOID:0050426 name: Stevens-Johnson syndrome alt_id: MIM:608579 def: "A skin disease that is characterized by ulceration of less than 10 percent of the surface area of the body. The disease is often precipitated by the use of medications, such as antibiotics or antiepileptics, or onset of infection. (DO)" [https://en.wikipedia.org/wiki/Stevens%E2%80%93Johnson_syndrome "DO"] synonym: "carbamazepine-induced hypersensitivity syndrome, susceptibility to" NARROW [] synonym: "drug-induced Stevens-Johnson syndrome" EXACT [] synonym: "Lyell's Syndrome" EXACT [] synonym: "Lyell's Syndromes" EXACT [] synonym: "Lyell Syndrome" EXACT [] synonym: "Mycoplasma Induced Stevens Johnson Syndrome" EXACT [] synonym: "Nonstaphylococcal Scalded Skin Syndrome" EXACT [] synonym: "SEVERE CUTANEOUS ADVERSE REACTION, SUSCEPTIBILITY TO" EXACT [] synonym: "STEVENS-JOHNSON SYNDROME, SUSCEPTIBILITY TO" NARROW [] synonym: "Stevens Johnson Syndrome Toxic Epidermal Necrolysis" EXACT [] synonym: "Stevens Johnson Syndrome Toxic Epidermal Necrolysis Spectrum" EXACT [] synonym: "Toxic Epidermal Necrolyses" EXACT [] synonym: "toxic epidermal necrolysis" EXACT [] synonym: "toxic epidermal necrolysis, susceptibility to" NARROW [] xref: EFO:0004276 xref: EFO:0004775 xref: GARD:7700 xref: ICD10CM:L51.1 xref: ICD9CM:695.13 xref: MESH:D013262 xref: NCI:C79484 xref: NCI:C79777 is_a: DOID:0050185 ! erythema multiforme is_a: DOID:225 ! syndrome is_a: DOID:9005236 ! Drug Eruptions is_a: DOID:9637 ! stomatitis [Term] id: DOID:0050427 name: xeroderma pigmentosum def: "A syndrome that is characterized by a deficiency in the ability to repair ultraviolet damage that has_material_basis_in autosomal recessive inheritance of DNA repair. (DO)" [http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/339/viewAbstract "DO"] synonym: "Kaposi's disease" EXACT [] synonym: "Kaposi disease" EXACT [] synonym: "Kaposis disease" EXACT [] xref: GARD:7910 xref: MESH:D014983 xref: NCI:C3452 xref: ORDO:910 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:3159 ! photosensitivity disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:0050428 name: nonepidermolytic palmoplantar keratoderma def: "A palmoplantar keratosis characterized by a well-demarcated, symmetric keratoderma located_in palms and located_in soles. (DO)" [http://en.wikipedia.org/wiki/Palmoplantar_keratoderma "DO"] synonym: "diffuse nonepidermolytic palmomplantar keratoderma" NARROW [] synonym: "diffuse nonepidermolytic palmoplantar keratoderma" NARROW [] synonym: "diffuse orthohyperkeratotic keratoderma" NARROW [] synonym: "keratosis palmoplantaris diffusa circumscripta" NARROW [] synonym: "NEPPK" EXACT [] synonym: "NONEPIDERMOLYTIC PALMOPLANTAR HYPERKERATOSIS" EXACT [] synonym: "PPKNE" EXACT [] synonym: "Thost-Unna Syndrome" EXACT [] synonym: "Unna-Thost Syndrome" EXACT [] xref: EFO:1000743 xref: MESH:C563422 is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:0050429 name: Hailey-Hailey disease alt_id: MIM:169600 def: "A pemphigus that is characterized by recurring blistering most commonly occurring in the folds of the skin, particularly the groin and axillary regions, and has_material_basis_in mutations in the ATP2C1 gene that result in loss of adhesion within the skin. Other sites of the body, such as the neck, perianal, and submammary regions, may likewise be affected. (DO)" [https://rarediseases.org/rare-diseases/hailey-hailey-disease/ "DO"] synonym: "BCPM" EXACT [] synonym: "benign chronic pemphigus" EXACT [] synonym: "benign familial pemphigus" EXACT [] synonym: "familial benign chronic pemphigus" EXACT [] synonym: "HHD" EXACT [] xref: GARD:6559 xref: MESH:D016506 xref: NCI:C82865 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9182 ! pemphigus [Term] id: DOID:0050430 name: multiple endocrine neoplasia type 2A alt_id: MIM:171400 def: "A multiple endocrine neoplasia characterized by medullary carcinoma of the thyroid, pheochromocytoma, hyperparathyroidism, and occasionally cutaneous lichen amyloidosis. (DO)" [http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2a_men_2a.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965261 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract "DO"] synonym: "familial medullary thyroid carcinoma" NARROW [] synonym: "FMTC AND UNCLASSIFIED" EXACT [] synonym: "MEA 2A" EXACT [] synonym: "MEA II" BROAD [] synonym: "MEA IIa" EXACT [] synonym: "MEN 2" BROAD [] synonym: "MEN 2a" EXACT [] synonym: "MEN2a" EXACT [] synonym: "MEN2A and Unclassified" RELATED [] synonym: "MEN 2A syndrome" EXACT [] synonym: "MEN-2A Syndromes" EXACT [] synonym: "MEN2 Disease" BROAD [] synonym: "MEN2 Phenotype: Unclassified" BROAD [] synonym: "MEN2 Phenotype: Unknown" BROAD [] synonym: "MEN II" BROAD [] synonym: "MEN IIa" EXACT [] synonym: "Multiple Endocrine Neoplasia 2" BROAD [] synonym: "multiple endocrine neoplasia II" BROAD [] synonym: "Multiple Endocrine Neoplasia Type 2" BROAD [] synonym: "Multiple Endocrine Neoplasia, Type IIa" EXACT [] synonym: "Multiple Endocrine Neoplasia, Type IIA, With Hirschsprung Disease" NARROW [] synonym: "MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA, WITHOUT PHEOCHROMOCYTOMA" NARROW [] synonym: "Multiple Endocrine Neoplasms Type 2a" EXACT [] synonym: "Pheochromocytoma And Amyloid Producing Medullary Thyroid Carcinoma" EXACT [] synonym: "PTC syndrome" EXACT [] synonym: "Sipple syndrome" EXACT [] xref: ICD10CM:E31.22 xref: ICD9CM:258.02 xref: MESH:D018813 xref: NCI:C3226 xref: ORDO:247698 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:0050431 name: arrhythmogenic right ventricular cardiomyopathy def: "An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle and limited or no involvement of the left ventricle. (DO)" [http://en.wikipedia.org/wiki/Arrhythmogenic_right_ventricular_dysplasia "DO", http://ghr.nlm.nih.gov/condition/arrhythmogenic-right-ventricular-cardiomyopathy "DO", http://my.clevelandclinic.org/services/heart/disorders/arvd "DO", http://www.hopkinsmedicine.org/heart_vascular_institute/clinical_services/centers_excellence/arvd/patient_resources/questions.html "DO", https://pubmed.ncbi.nlm.nih.gov/31637441/ "DO"] synonym: "ARRHYTHMOGENIC CARDIOMYOPATHY" BROAD [] synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy Dysplasia" EXACT [] synonym: "Arrhythmogenic Right Ventricular Dysplasia" EXACT [] synonym: "ARVC" EXACT [] synonym: "ARVD" EXACT [] synonym: "ARVD-C" EXACT [] synonym: "CARDIOMYOPATHY, ARVC" EXACT [] synonym: "FAMILIAL ISOLATED ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA" NARROW [] synonym: "right ventricular ACM" EXACT [] synonym: "right ventricular cardiomyopathy" EXACT [] synonym: "TAX1BP3-RELATED ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY" NARROW [] xref: EFO:0002631 xref: MESH:D019571 xref: MIM:PS107970 xref: MONDO:0016587 xref: NCI:C84571 xref: ORDO:217656 xref: ORDO:247 is_a: DOID:0060036 ! intrinsic cardiomyopathy is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0050432 name: Asperger syndrome alt_id: MIM:608631 alt_id: MIM:608638 alt_id: MIM:608781 alt_id: MIM:609954 def: "An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. (DO)" [http://en.wikipedia.org/wiki/Asperger_syndrome "DO", http://www.neurodevnet.ca "DO"] synonym: "Asperger's Disease" EXACT [] synonym: "Asperger's diseases" EXACT [] synonym: "Asperger's disorder" EXACT [] synonym: "Asperger's syndrome" EXACT [] synonym: "Asperger disease" EXACT [] synonym: "Asperger diseases" EXACT [] synonym: "Asperger disorder" EXACT [] synonym: "Asperger disorders" EXACT [] synonym: "Aspergers disease" EXACT [] synonym: "Aspergers disorder" EXACT [] synonym: "Aspergers syndrome" EXACT [] synonym: "Asperger Syndrome, Susceptibility To, 1" RELATED [] synonym: "Asperger Syndrome, Susceptibility To, 2" RELATED [] synonym: "Asperger Syndrome, Susceptibility To, 3" RELATED [] synonym: "Asperger Syndrome, Susceptibility To, 4" RELATED [] synonym: "Asperger Syndrome, X-Linked, Susceptibility To, 1" RELATED [] synonym: "Asperger Syndrome, X-Linked, Susceptibility To, 2" RELATED [] synonym: "ASPG" EXACT [] synonym: "ASPG1" RELATED [] synonym: "ASPG2" RELATED [] synonym: "ASPG3" RELATED [] synonym: "ASPG4" RELATED [] synonym: "ASPGX1" RELATED [] synonym: "ASPGX2" RELATED [] xref: EFO:0003757 xref: GARD:5855 xref: ICD10CM:F84.5 xref: MESH:D020817 xref: MIM:PS608638 xref: MONDO:0005259 xref: NCI:C97159 xref: ORDO:1162 is_a: DOID:0060041 ! autism spectrum disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0050433 name: fatal familial insomnia alt_id: MIM:600072 def: "A prion disease that is characterized by insomnia, hallucinations, dementia and death, located_in the brain. (DO)" [https://en.wikipedia.org/wiki/Fatal_familial_insomnia "DO"] synonym: "familial fatal insomnias" EXACT [] synonym: "FFI" EXACT [] xref: GARD:6429 xref: ICD10CM:A81.83 xref: ICD9CM:046.72 xref: MESH:D034062 xref: NCI:C84711 is_a: DOID:649 ! prion disease is_a: DOID:9004576 ! Sleep Initiation and Maintenance Disorders [Term] id: DOID:0050434 name: Andersen-Tawil syndrome def: "A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. (DO)" [http://en.wikipedia.org/wiki/Andersen%E2%80%93Tawil_syndrome "DO", http://en.wikipedia.org/wiki/Long_QT_syndrome "DO"] synonym: "Andersen cardiodysrhythmic periodic paralysis" EXACT [] synonym: "Andersen cardiodysrythmic periodic paralysis" EXACT [] synonym: "Andersen syndrome" EXACT [] synonym: "ATS" EXACT [] synonym: "long QT syndrome 7" EXACT [] synonym: "LQT7" EXACT [] synonym: "potassium-sensitive cardiodysrhythmic type" EXACT [] synonym: "potassium-sensitive cardiodysrhythmic type periodic paralysis" EXACT [] synonym: "potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features" EXACT [] xref: GARD:9453 xref: MESH:D050030 xref: MIM:170390 xref: MONDO:0008222 xref: NCI:C84559 xref: ORDO:37553 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0050436 name: mulibrey nanism alt_id: MESH:C538604 alt_id: MIM:253250 def: "A syndrome that is characterized by global growth retardation of the muscle, liver, brain and eyes as well as constrictive pericarditis and has_material_basis_in mutations in the TRIM37 gene. (DO)" [https://rarediseases.org/rare-diseases/mulibrey-nanism/ "DO"] synonym: "MUL" EXACT [] synonym: "mulibrey growth disorder" EXACT [] synonym: "mulibrey nanism syndrome" EXACT [] synonym: "muscle liver brain eye nanism" EXACT [] synonym: "Perheentupa syndrome" EXACT [] synonym: "pericardial constriction and growth failure" EXACT [] synonym: "pericardial constriction with growth failure" EXACT [] synonym: "TRIM37-RELATED CONDITION" EXACT [] xref: GARD:95 xref: MESH:D050336 xref: NCI:C84906 xref: ORDO:2576 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0050437 name: Danon disease alt_id: MIM:300257 def: "A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. (DO)" [https://rarediseases.org/rare-diseases/danon-disease/ "DO"] synonym: "Antopol disease" EXACT [] synonym: "glycogen storage cardiomyopathies" EXACT [] synonym: "glycogen storage cardiomyopathy" EXACT [] synonym: "Glycogen Storage Disease IIb" EXACT [] synonym: "Glycogen Storage Disease Limited to the Heart" EXACT [] synonym: "Glycogen Storage Disease Type 2B" EXACT [] synonym: "glycogen storage disease type IIB" EXACT [] synonym: "GSD2B" EXACT [] synonym: "GSD IIb" EXACT [] synonym: "lysosomal glycogen storage disease with normal acid maltase" EXACT [] synonym: "lysosomal glycogen storage disease without acid maltase deficiency" EXACT [] synonym: "pseudoglycogenosis 2" EXACT [] synonym: "pseudoglycogenosis II" EXACT [] synonym: "X-linked vacuolar cardiomyopathy and myopathy" EXACT [] xref: EFO:1001333 xref: GARD:9730 xref: MESH:D052120 xref: NCI:C84735 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:2747 ! glycogen storage disease is_a: DOID:3211 ! lysosomal storage disease is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0050438 name: Frasier syndrome alt_id: MIM:136680 def: "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene. (DO)" [https://ghr.nlm.nih.gov/condition/frasier-syndrome "DO"] xref: GARD:2375 xref: MESH:D052159 xref: NCI:C122805 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:783 ! end stage renal disease is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:0050439 name: Usher syndrome def: "A syndrome characterized by a combination of hearing loss and visual impairment. (DO)" [http://en.wikipedia.org/wiki/Usher_syndrome "DO"] synonym: "dystrophia retinae pigmentosa dysostosis syndrome" EXACT [] synonym: "Graefe Usher syndrome" EXACT [] synonym: "Hallgren syndrome" EXACT [] synonym: "retinitis pigmentosa and congenital deafness" EXACT [] synonym: "Usher's syndrome" EXACT [] synonym: "Ushers syndrome" EXACT [] synonym: "Usher syndromes" EXACT [] xref: GARD:7843 xref: MESH:D052245 xref: MIM:PS276900 xref: NCI:C85217 xref: ORDO:886 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9005165 ! Deaf-Blind Disorders [Term] id: DOID:0050440 name: familial partial lipodystrophy def: "A partial lipodystrophy characterized by abnormal subcutaneous adipose tissue distribution beginning in late childhood or early adult life. (DO)" [http://en.wikipedia.org/wiki/Familial_partial_lipodystrophy "DO", http://omim.org/entry/608600 "DO"] synonym: "familial partial lipodystrophies" EXACT [] synonym: "Koberling Dunnigan Syndrome" EXACT [] synonym: "lipoatrophy with diabetes, hepatic steatosis, hypertrophic cardiomyopathy, and leukomelanodermic papules" NARROW [] synonym: "reverse partial lipodystrophies" EXACT [] synonym: "reverse partial lipodystrophy" EXACT [] xref: GARD:11962 xref: MESH:D052496 xref: MIM:PS151660 xref: NCI:C84708 xref: ORDO:98306 is_a: DOID:0080299 ! partial lipodystrophy [Term] id: DOID:0050441 name: mucosulfatidosis alt_id: MIM:272200 def: "A sphingolipidosis that is characterized by leukodystrophy, ichthyosis, skeletal abnormalities and shortened life expectancy and has_material_basis_in mutation in the SUMF1 gene that results in deficiency in multiple sulfatase enzymes. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-sulfatase-deficiency "DO"] synonym: "juvenile sulfatidoses" EXACT [] synonym: "juvenile sulfatidosis" EXACT [] synonym: "MSD" EXACT [] synonym: "multiple sulfatase deficiencies" EXACT [] synonym: "multiple sulfatase deficiency" EXACT [] synonym: "multiple sulfatase deficiency disease" EXACT [] synonym: "multiple sulfatase deficiency diseases" EXACT [] synonym: "multiple sulphatase deficiency disease" EXACT [] synonym: "sulfatidosis juvenile, Austin type" EXACT [] xref: ICD10CM:E75.26 xref: MESH:D052517 xref: NCI:C84908 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1927 ! sphingolipidosis is_a: DOID:9002902 ! Sulfatidosis [Term] id: DOID:0050444 name: infantile Refsum disease def: "A peroxisomal disease that is characterized by neurological impairment, intellectual disability, hepatosplenomegaly and ichthyosis and results from the accumulation of very long chain fatty acids and phytanic acid, secondary to mutation in the PEX genes. (DO)" [https://en.wikipedia.org/wiki/Infantile_Refsum_disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK560618/ "DO"] synonym: "autosomal neonatal adrenoleukodystrophy" EXACT [] synonym: "infantile form of phytanic acid storage disease" EXACT [] synonym: "infantile phytanic acid storage disease" EXACT [] synonym: "infantile Refsum's disease" EXACT [] synonym: "Infantile Refsums Disease" EXACT [] synonym: "NEONATAL ADRENOLEUCODYSTROPHY" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER (NALD/IRD)" EXACT [] synonym: "peroxisome biogenesis disorder (neonatal adrenoleukodystrophy/infantile Refsum disease)" EXACT [] synonym: "Refsum disease, infantile form" EXACT [] xref: MESH:D052919 xref: NCI:C84789 is_a: DOID:10582 ! Refsum disease is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0050445 name: X-linked dominant hypophosphatemic rickets alt_id: MIM:307800 def: "A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. (DO)" [http://en.wikipedia.org/wiki/X-linked_hypophosphatemia "DO", https://rarediseases.info.nih.gov/diseases/12943/x-linked-hypophosphatemia "DO"] synonym: "FAMILIAL X-LINKED HYPOPHOSPHATEMIC VITAMIN D REFRACTORY RICKETS" EXACT [] synonym: "PHEX-RELATED CONDITION" EXACT [] synonym: "XLH" EXACT [] synonym: "XLHR" EXACT [] synonym: "X-linked hypophosphatemia" EXACT [] synonym: "X-linked hypophosphatemic rickets" EXACT [] synonym: "X-linked vitamin D resistant rickets" EXACT [] xref: NCI:C85234 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets [Term] id: DOID:0050448 name: white sponge nevus def: "A skin disease characterized by a defect in the normal process of keratinization of the mucosa. (DO)" [http://en.wikipedia.org/wiki/White_sponge_nevus "DO", https://pubmed.ncbi.nlm.nih.gov/29034652/ "DO"] synonym: "hereditary mucosal leukokeratoses" EXACT [] synonym: "hereditary mucosal leukokeratosis" EXACT [] synonym: "white sponge nevus of Cannon" EXACT [] xref: GARD:8501 xref: MESH:D053529 xref: MIM:PS193900 xref: NCI:C84760 xref: ORDO:171723 is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050449 name: pachyonychia congenita def: "A syndrome that is characterized by hypertrophic nails and hyperkeratosis of the hands and feet and has_material_basis_in gene mutations that result in changes in keratin. (DO)" [https://ghr.nlm.nih.gov/condition/pachyonychia-congenita "DO"] synonym: "congenital pachyonychia" EXACT [] synonym: "congenital pachyonychias" EXACT [] synonym: "pachyonychia congenita syndrome" EXACT [] synonym: "pachyonychia congenita syndromes" EXACT [] synonym: "PC-K6A" EXACT [] xref: GARD:10753 xref: MESH:D053549 xref: MIM:PS167200 xref: NCI:C84986 xref: ORDO:2309 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4123 ! nail disease [Term] id: DOID:0050450 name: Gitelman syndrome alt_id: MIM:263800 def: "A renal tubular transport disease that is has_material_basis_in mutations in genes that produce proteins involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream, thus impairing the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). (DO)" [https://ghr.nlm.nih.gov/condition/gitelman-syndrome "DO"] synonym: "familial hypokalemia hypomagnesemia" EXACT [] synonym: "Gitelman's syndrome" EXACT [] synonym: "GTLMNS" EXACT [] synonym: "potassium and magnesium depletion" EXACT [] synonym: "primary renotubular, hypokalemia-hypomagnesemia with hypocalciuria" EXACT [] synonym: "SLC12A3-RELATED CONDITION" EXACT [] synonym: "tubular hypomagnesemia hypokalemia with hypocalcuria" EXACT [] xref: GARD:8547 xref: MESH:D053579 xref: NCI:C84730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0050451 name: Brugada syndrome def: "A heart conduction disease that is characterized by abnormal electrocardiogram (ECG) findings and an increased risk of sudden cardiac death. (DO)" [http://en.wikipedia.org/wiki/Brugada_syndrome "DO"] synonym: "Bangungut" EXACT [] synonym: "Brugada ECG pattern" EXACT [] synonym: "Brugada syndrome (shorter-than-normal QT interval)" EXACT [] synonym: "Brugada Syndrome, Lidocaine-Induced" NARROW [] synonym: "Brugada syndrome, phenotype modifier" RELATED [] synonym: "Brugada Type ECG Pattern" EXACT [] synonym: "Brugada type idiopathic ventricular fibrillation" EXACT [] synonym: "dream disease" EXACT [] synonym: "Pokkuri death syndrome" EXACT [] synonym: "sudden unexplained death syndrome" EXACT [] synonym: "sudden unexplained nocturnal death syndrome" EXACT [] synonym: "sudden unexplained nocturnal death syndrome (SUNDS)" EXACT [] synonym: "SUNDS" EXACT [] synonym: "SUNDS CARDIAC CONDUCTION DEFECT, NONSPECIFIC" NARROW [] xref: EFO:0004691 xref: GARD:1030 xref: MESH:D053840 xref: MIM:PS601144 xref: MONDO:0015263 xref: NCI:C142891 xref: ORDO:130 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0050452 name: mevalonic aciduria def: "A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has_material_basis_in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. (DO)" [https://rarediseases.info.nih.gov/diseases/3588/mevalonic-aciduria "DO"] synonym: "HIDS" EXACT [] synonym: "MEVA" EXACT [] synonym: "mevalonate kinase deficiencies" EXACT [] synonym: "mevalonate kinase deficiency" EXACT [] synonym: "mevalonicaciduria" EXACT [] synonym: "mevalonicacidurias" EXACT [] xref: GARD:3588 xref: MESH:D054078 xref: MIM:610377 xref: MONDO:0012481 xref: NCI:C84890 xref: ORDO:29 is_a: DOID:9005358 ! Hypergammaglobulinemia is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0050453 name: lissencephaly def: "A congenital nervous system abnormality characterized by the absence of folds in the cerebral cortex and caused_by defective neuronal migration during the 12th to 24th weeks of gestation. (DO)" [http://en.wikipedia.org/wiki/Lissencephaly "DO", http://www.ninds.nih.gov/disorders/lissencephaly/lissencephaly.htm "DO"] synonym: "Agyria" EXACT [] synonym: "agyrias" EXACT [] synonym: "Broad Gyri of Cerebrum" EXACT [] synonym: "ILS" EXACT [] synonym: "Large Gyri of Cerebrum" EXACT [] synonym: "Lissencephalia" EXACT [] synonym: "Lissencephalies" EXACT [] synonym: "LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA" NARROW [] synonym: "LISSENCEPHALY, CLASSIC SUBCORTICAL LAMINAR HETEROTOPIA" NARROW [] synonym: "lissencephaly, dominant" NARROW [] synonym: "lissencephaly, recessive" NARROW [] synonym: "LISSENCEPHALY SEQUENCE, ISOLATED" EXACT [] synonym: "macrogyria" EXACT [] synonym: "macrogyrias" EXACT [] synonym: "Pachygyria" EXACT [] synonym: "Pachygyrias" EXACT [] synonym: "POSTERIOR PREDOMINANT LISSENCEPHALY" NARROW [] synonym: "SBH" NARROW [] synonym: "SCLH" NARROW [] synonym: "subcortical band heterotopia" NARROW [] xref: EFO:0011063 xref: GARD:12291 xref: ICD10CM:Q04.3 xref: ICD10CM:Q04.8 xref: MESH:D054082 xref: MIM:PS607432 xref: NCI:C103921 xref: ORDO:102009 xref: ORDO:48471 is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9004667 ! Malformations of Cortical Development, Group II [Term] id: DOID:0050454 name: periventricular nodular heterotopia alt_id: MIM:300049 def: "A congenital nervous system abnormality characterized by non proper migration of neurons during the early development of the fetal brain. (DO)" [http://ghr.nlm.nih.gov/condition/periventricular-heterotopia "DO"] synonym: "bilateral periventricular nodular heterotopia" EXACT [] synonym: "BPNH" EXACT [] synonym: "Familial Nodular Heterotopia" EXACT [] synonym: "familial nodular heterotopias" EXACT [] synonym: "HETEROTOPIA, PERIVENTRICULAR NODULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA" NARROW [] synonym: "HETEROTOPIA, PERIVENTRICULAR, WITH FRONTOMETAPHYSEAL DYSPLASIA" NARROW [] synonym: "Heterotopia, Periventricular, X-Linked Dominant" EXACT [] synonym: "NHBP" EXACT [] synonym: "Periventricular Heterotopia" EXACT [] synonym: "Periventricular Heterotopias" EXACT [] synonym: "Periventricular Nodular Heterotopia 1" EXACT [] synonym: "Periventricular Nodular Heterotopias" EXACT [] synonym: "PVNH1" EXACT [] synonym: "X-linked periventricular heterotopia" EXACT [] synonym: "X-linked periventricular heterotopias" EXACT [] xref: MESH:D054091 xref: MIM:PS300049 xref: NCI:C202072 xref: ORDO:98892 is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9004667 ! Malformations of Cortical Development, Group II [Term] id: DOID:0050456 name: Buruli ulcer disease alt_id: MIM:610446 def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. (DO)" [http://en.wikipedia.org/wiki/Buruli_ulcer "DO", http://www.who.int/mediacentre/factsheets/fs199/en/ "DO"] synonym: "Bairnsdale ulcer" EXACT [] synonym: "Buruli ulcer" EXACT [] synonym: "Buruli Ulcer Diseases" EXACT [] synonym: "BURULI ULCER, SUSCEPTIBILITY TO" EXACT [] synonym: "Daintree ulcer" EXACT [] synonym: "Mossman ulcer" EXACT [] synonym: "Mycobacterium ulcerans Infection" EXACT [] synonym: "Mycobacterium ulcerans Infections" EXACT [] synonym: "Mycobacterium ulcerans, susceptibility to" RELATED [] synonym: "Searle's ulcer" EXACT [] synonym: "Searl ulcer" EXACT [] xref: EFO:1001281 xref: GARD:9520 xref: ICD10CM:A31.1 xref: MESH:D054312 xref: MONDO:0000327 xref: NCI:C84604 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:8549 ! chronic ulcer of skin is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections [Term] id: DOID:0050457 name: Sertoli cell-only syndrome def: "A male infertility disease characterized by male sterility, has_material_basis_in azospermia without abnormal sexual development. (DO)" [https://rarediseases.info.nih.gov/diseases/8406/sertoli-cell-only-syndrome "DO"] synonym: "Del Castillo syndrome" EXACT [] synonym: "germinal cell aplasia" EXACT [] xref: EFO:1001422 xref: GARD:8406 xref: MESH:D054331 xref: NCI:C168988 is_a: DOID:12336 ! male infertility is_a: DOID:225 ! syndrome [Term] id: DOID:0050458 name: juvenile myelomonocytic leukemia alt_id: MIM:607785 def: "A myelodysplastic/myeloproliferative neoplasm that is characterized by the uncontrolled growth of monocytes. (DO)" [https://rarediseases.org/rare-diseases/juvenile-myelomonocytic-leukemia/ "DO"] synonym: "CMML" NARROW [] synonym: "EFO:1000309" EXACT [] synonym: "JMML" EXACT [] synonym: "juvenile chronic myelogenous leukemia" EXACT [] synonym: "juvenile myelomonocytic leukemia, chronic myelomonocytic" NARROW [] synonym: "juvenile myelomonocytic leukemias" EXACT [] xref: EFO:1000309 xref: GARD:9884 xref: ICD10CM:C93.3 xref: ICDO:9946/3 xref: MESH:D054429 xref: NCI:C9233 xref: ORDO:86834 is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:0050459 name: hyperphosphatemia def: "A phosphorus metabolism disease characterized by hyperphosphatemia and abnormal deposits of phosphate and calcium in joints and soft tissues, results from abnormal phosphorus metabolism and has_material_basis_in mutations in the FGF23, GALNT3 or KL gene. (DO)" [https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis "DO"] synonym: "hyperphosphatemias" EXACT [] xref: MESH:D054559 xref: NCI:C113750 is_a: DOID:2485 ! phosphorus metabolism disease [Term] id: DOID:0050460 name: Wolf-Hirschhorn syndrome alt_id: MIM:194190 def: "A chromosomal deletion syndrome that is characterized by distinct craniofacial features, hypotonia and intellectual disability and has_material_basis_in a hemizygous deletion of chromosome 4p16.3. (DO)" [https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome "DO"] synonym: "4p deletion syndrome" EXACT [] synonym: "4p- Syndrome" EXACT [] synonym: "CHROMOSOME 4p16.3 DELETION SYNDROME" EXACT [] synonym: "Chromosome 4p Deletion Syndrome" EXACT [] synonym: "Chromosome 4p Monosomy" EXACT [] synonym: "Chromosome 4p Syndrome" EXACT [] synonym: "chromosome 4p syndromes" EXACT [] synonym: "Del(4p) Syndrome" EXACT [] synonym: "Mental Retardation, Unusual Facies, And Intrauterine Growth Retardation" EXACT [] synonym: "Partial Monosomy 4p" EXACT [] synonym: "Pitt Rogers Danks Syndrome" EXACT [] synonym: "Pitt Syndrome" EXACT [] synonym: "Pitt Syndromes" EXACT [] synonym: "PRDS" EXACT [] synonym: "WHS" EXACT [] synonym: "Wolf Hirchhorn syndrome" EXACT [] synonym: "Wolf syndrome" EXACT [] xref: GARD:7896 xref: ICD10CM:Q93.3 xref: MESH:D054877 xref: NCI:C35528 xref: ORDO:280 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050461 name: aspartylglucosaminuria alt_id: MESH:C538402 alt_id: MIM:208400 def: "A lysosomal storage disease that is characterized by delayed speech at 2-3 years of age, has_material_basis_in mutations in the AGA gene that result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. (DO)" [https://ghr.nlm.nih.gov/condition/aspartylglucosaminuria "DO"] synonym: "AGA deficiencies" EXACT [] synonym: "AGA deficiency" EXACT [] synonym: "AGU" EXACT [] synonym: "aspartylglucosamidase (AGA) deficiency" EXACT [] synonym: "aspartylglucosamidase deficiencies" EXACT [] synonym: "aspartylglucosamidase deficiency" EXACT [] synonym: "aspartylglucosaminidase deficiency" EXACT [] synonym: "aspartylglucosaminuria, Finnish type" EXACT [] synonym: "aspartylglucosaminurias" EXACT [] synonym: "aspartylglycosaminuria" EXACT [] synonym: "aspartylglycosaminuria, Finnish type" EXACT [] synonym: "aspartylglycosaminurias" EXACT [] synonym: "glycoasparaginase" EXACT [] synonym: "glycoasparaginases" EXACT [] synonym: "glycosylasparaginase deficiency" EXACT [] xref: GARD:5854 xref: MESH:D054880 xref: NCI:C61273 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:0050462 name: Antley-Bixler syndrome with disordered steroidogenesis alt_id: DOID:9003979 def: "An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. (DO)" [http://en.wikipedia.org/wiki/Antley-Bixler_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/35070845/ "DO"] synonym: "ABS1" EXACT [] synonym: "Antley-Bixler syndrome, autosomal dominant" EXACT [] synonym: "Antley-Bixler syndrome like phenotype with disordered steroidogenesis" EXACT [] synonym: "Antley-Bixler Syndrome with Genital Anomalies and Disordered Steroidogenesis" EXACT [] synonym: "Combined Partial Deficiency of 17-Hydroxylase and 21-Hydroxylase" EXACT [] synonym: "Congenital Adrenal Hyperplasia Due To Apparent Combined P450c17 and P450c21 Deficiency" EXACT [] synonym: "Multisynostotic Osteodysgenesis" EXACT [] synonym: "multisynostotic osteodysgenesis with fractures" EXACT [] synonym: "POR deficiency" EXACT [] synonym: "trapezoidocephaly synostosis syndrome" EXACT [] synonym: "trapezoidocephaly-synostosis syndromes" EXACT [] xref: MIM:201750 xref: NCI:C174439 xref: NCI:C178415 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081289 ! Antley-Bixler syndrome is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:0050463 name: campomelic dysplasia alt_id: MIM:114290 def: "An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. (DO)" [http://en.wikipedia.org/wiki/Campomelic_dysplasia "DO", http://ghr.nlm.nih.gov/condition/campomelic-dysplasia "DO", http://www.healthline.com/galecontent/campomelic-dysplasia-1 "DO"] synonym: "acampomelic campomelic dysplasia" RELATED [] synonym: "acampomelic campomelic dysplasias" RELATED [] synonym: "acampomelic campomelic dysplasia with autosomal sex reversal" RELATED [] synonym: "campomelic dwarfism" EXACT [] synonym: "campomelic dwarfisms" EXACT [] synonym: "campomelic dysplasias" EXACT [] synonym: "campomelic dysplasia with autosomal sex reversal" RELATED [] synonym: "campomelic syndrome" EXACT [] synonym: "campomelic syndromes" EXACT [] synonym: "camptomelic dysplasia" EXACT [] synonym: "CMD1" EXACT [] synonym: "CMPD" EXACT [] synonym: "CMPD1" EXACT [] synonym: "CMPD1/SRA1" BROAD [] synonym: "SOX9-RELATED CONDITION" BROAD [] xref: EFO:0004140 xref: GARD:10027 xref: MESH:D055036 xref: MONDO:0007251 xref: NCI:C120205 xref: NCI:C84609 xref: ORDO:140 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:0050464 name: Farber lipogranulomatosis alt_id: MIM:228000 def: "A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. (DO)" [https://en.wikipedia.org/wiki/Farber_disease "DO"] synonym: "AC deficiency" EXACT [] synonym: "acid ceramidase deficiencies" EXACT [] synonym: "acid ceramidase deficiency" EXACT [] synonym: "ceramidase deficiencies" EXACT [] synonym: "Ceramidase Deficiency" EXACT [] synonym: "Farber's Disease" EXACT [] synonym: "Farber's diseases" EXACT [] synonym: "Farber's lipogranulomatosis" EXACT [] synonym: "Farber Disease" EXACT [] synonym: "Farbers Disease" EXACT [] synonym: "FRBRL" EXACT [] synonym: "N-laurylsphingosine deacylase deficiencies" EXACT [] synonym: "N-laurylsphingosine deacylase deficiency" EXACT [] xref: GARD:6426 xref: MESH:D055577 xref: NCI:C84710 xref: ORDO:333 is_a: DOID:1927 ! sphingolipidosis is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0050465 name: Muir-Torre syndrome alt_id: MIM:158320 def: "A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes. (DO)" [https://en.wikipedia.org/wiki/Muir%E2%80%93Torre_syndrome "DO"] synonym: "CUTANEOUS SEBACEOUS NEOPLASMS AND KERATOACANTHOMAS, MULTIPLE, WITH GASTROINTESTINAL AND OTHER CARCINOMAS" EXACT [] synonym: "MRTES" EXACT [] synonym: "Muir-Torré syndrome" EXACT [] xref: GARD:6821 xref: MESH:D055653 xref: NCI:C84905 xref: ORDO:587 is_a: DOID:0070274 ! hereditary nonpolyposis colorectal cancer type 2 is_a: DOID:5759 ! sebaceous gland neoplasm is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050466 name: Loeys-Dietz syndrome alt_id: MESH:C538192 def: "A syndrome that is characterized by increased risk of aortic aneurysm and dissection, elongated limbs, hypertelorism, bifid uvula and easy skin bruising due to mutations in TGFB3 that results in connective tissue defects. (DO)" [https://en.wikipedia.org/wiki/Loeys%E2%80%93Dietz_syndrome "DO"] synonym: "aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations" EXACT [] synonym: "Loeys Dietz aortic aneurysm syndrome" EXACT [] synonym: "Loeys Dietz syndrome, type 1A" EXACT [] synonym: "Marfanoid disorder with craniosynostosis, type 2" EXACT [] xref: GARD:10788 xref: MESH:D055947 xref: MIM:PS609192 xref: NCI:C75006 xref: ORDO:60030 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14323 ! Marfan syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:3627 ! aortic aneurysm is_a: DOID:9006045 ! Dissecting Aneurysm is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0050467 name: erythrokeratodermia variabilis def: "A skin disease that is characterized by areas of sharply demarcated, brown hyperkeratosis and has_material_basis_in mutations in genes encoding for connexin channels proteins in the epidermis. (DO)" [https://en.wikipedia.org/wiki/Erythrokeratodermia_variabilis "DO"] synonym: "EKV" EXACT [] synonym: "EKVP" EXACT [] synonym: "erythro et keratodermia variabilis" EXACT [] synonym: "erythrokeratodermia figurata variabilis" EXACT [] synonym: "erythrokeratodermia variabilis et progressiva" EXACT [] synonym: "Mendes De Costa syndrome" EXACT [] synonym: "progressive symmetric erythrokeratodermia" EXACT [] synonym: "PSEK" EXACT [] xref: MESH:D056266 xref: MIM:PS133200 xref: NCI:C84696 xref: ORDO:317 is_a: DOID:0050177 ! monogenic disease is_a: DOID:161 ! keratosis is_a: DOID:9006976 ! Erythema is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050468 name: yellow nail syndrome alt_id: MIM:153300 def: "A syndrome that is characterized by an accumulation of protein-rich fluid (lymph) in the soft layers of tissue under the skin resulting in pleural effusions, lymphedema (due to lymphatic hypoplasia) and yellow dystrophic nails hat lack a cuticle, grow slowly, and are loose or detached. (DO)" [http://rarediseases.info.nih.gov/gard/184/yellow-nail-syndrome/resources/1 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/834/viewAbstract "DO", https://www.ncbi.nlm.nih.gov/pubmed/28241848 "DO"] synonym: "lymphedema and yellow nails" EXACT [] synonym: "yellow nail syndromes" EXACT [] synonym: "YNS" EXACT [] xref: EFO:1001452 xref: GARD:184 xref: ICD10CM:L60.5 xref: MESH:D056684 xref: NCI:C85238 is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:630 ! genetic disease is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:0050469 name: Costello syndrome alt_id: MIM:218040 def: "A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17250658 "DO", https://www.ncbi.nlm.nih.gov/pubmed/907573 "DO"] synonym: "CMEMS" NARROW [] synonym: "congenital myopathy with excess of muscle spindles" NARROW [] synonym: "CSTLO" EXACT [] synonym: "faciocutaneoskeletal syndrome" EXACT [] synonym: "faciocutaneoskeletal syndromes" EXACT [] synonym: "FCS syndrome" EXACT [] synonym: "FCS syndromes" EXACT [] xref: GARD:1550 xref: MESH:D056685 xref: NCI:C84652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0050470 name: Donohue syndrome alt_id: MESH:C562709 alt_id: MIM:246200 def: "A syndrome that is characterized by protuberant and low-set ears, flaring nostrils, thick lips, enlarged secondary sex organs and overwhelming insulin resistance and has_material_basis_in mutation within the INSR gene causing abnormalities in the insulin receptor. (DO)" [https://en.wikipedia.org/wiki/Donohue_syndrome "DO"] synonym: "defect in insulin receptor" RELATED [] synonym: "leprechaunism" EXACT [] synonym: "leprechaunism syndrome" EXACT [] xref: MESH:D056731 xref: NCI:C131000 xref: NCI:C84676 xref: ORDO:508 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:0050471 name: Carney complex alt_id: MIM:160980 alt_id: MIM:605244 def: "A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. (DO)" [http://en.wikipedia.org/wiki/Carney_complex "DO", http://ghr.nlm.nih.gov/condition/carney-complex "DO"] synonym: "CAR" EXACT [] synonym: "Carney complex, type 1" EXACT [] synonym: "Carney complex, type 2" EXACT [] synonym: "Carney complex, type I" EXACT [] synonym: "Carney complex, type II" EXACT [] synonym: "Carney Myxoma Endocrine Complex" EXACT [] synonym: "CARNEY MYXOMA-ENDOCRINE COMPLEX, TYPE 2" EXACT [] synonym: "Carney Myxoma Endocrine Complex, Type II" EXACT [] synonym: "Carney syndrome" EXACT [] synonym: "CNC1" EXACT [] synonym: "CNC2" EXACT [] synonym: "LAMB - lentigines, atrial myxoma, mucocutaneous myoma, blue nevus syndrome" EXACT [] synonym: "LAMB syndrome" EXACT [] synonym: "myxoma, spotty pigmentation, and endocrine overactivity" EXACT [] synonym: "NAME syndrome" EXACT [] synonym: "nevi, atrial myxoma, skin myxoma, ephelides syndrome" EXACT [] xref: GARD:1119 xref: MESH:D056733 xref: NCI:C4705 xref: ORDO:1359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9003253 ! Myxoma is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050472 name: monilethrix alt_id: MIM:158000 def: "A hair disease that is characterized by short, easily broken hair that results in alopecia and has_material_basis_in mutations in genes for type II hair cortex keratins. (DO)" [https://ghr.nlm.nih.gov/condition/monilethrix "DO"] synonym: "MNLIX" EXACT [] synonym: "monilethrices" EXACT [] synonym: "nodose hair" EXACT [] xref: GARD:93 xref: ICD10CM:Q84.1 xref: MESH:D056734 xref: NCI:C84894 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:421 ! hair disease is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050473 name: Alstrom syndrome def: "A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. (DO)" [http://en.wikipedia.org/wiki/Alstrom_syndrome "DO"] synonym: "ALMS" EXACT [] synonym: "ALMS1-RELATED CONDITION" EXACT [] synonym: "ALSS" EXACT [] synonym: "Alstrom's syndrome" EXACT [] synonym: "Alstrom Hallgren syndrome" EXACT [] synonym: "Alstroms syndrome" EXACT [] xref: MESH:D056769 xref: MIM:203800 xref: MONDO:0008763 xref: NCI:C84549 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060340 ! ciliopathy is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:2477 ! motor peripheral neuropathy [Term] id: DOID:0050474 name: Netherton syndrome alt_id: MIM:256500 def: "A skin disease that is characterized by chronic skin inflammation, trichorrhexis invaginata, atopic dermatitis and has_material_basis_in mutations in the SPINK5 gene resulting in reduced capacity to inhibit serine proteases expressed in the skin. (DO)" [https://ghr.nlm.nih.gov/condition/netherton-syndrome "DO"] synonym: "Comel-Netherton syndrome" EXACT [] synonym: "ichthyosiform erythroderma with hypotrichosis and hyper-IgE" EXACT [] synonym: "ICHTHYOSIS LINEARIS CIRCUMFLEXA" EXACT [] synonym: "NETH" EXACT [] synonym: "Netherton disease" EXACT [] synonym: "NS" EXACT [] xref: GARD:7182 xref: MESH:D056770 xref: NCI:C84922 xref: ORDO:634 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050475 name: Weill-Marchesani syndrome def: "A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. (DO)" [http://en.wikipedia.org/wiki/Weill-Marchesani_syndrome "DO", http://ghr.nlm.nih.gov/condition/weill-marchesani-syndrome "DO"] synonym: "congenital mesodermal dysmorphodystrophies" EXACT [] synonym: "congenital mesodermal dysmorphodystrophy" EXACT [] synonym: "congenital mesodermal dystrophy" EXACT [] synonym: "Marchesani Syndrome" EXACT [] synonym: "Marchesani-Weill syndromes" EXACT [] synonym: "spherophakia brachymorphia syndrome" EXACT [] synonym: "spherophakia brachymorphia syndromes" EXACT [] synonym: "Weill Marchesani syndrome, autosomal recessive" NARROW [] xref: GARD:4936 xref: MESH:D056846 xref: MIM:PS277600 xref: NCI:C85226 xref: ORDO:3449 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0050476 name: Barth syndrome def: "A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. (DO)" [http://en.wikipedia.org/wiki/Barth_syndrome "DO", http://rarediseases.info.nih.gov/gard/5890/barth-syndrome/resources/1 "DO", http://www.ninds.nih.gov/disorders/barth/barth.htm "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1116/viewAbstract "DO"] synonym: "3 methylglutaconicaciduria type 2" EXACT [] synonym: "3-methylglutaconic aciduria type 2" EXACT [] synonym: "3-Methylglutaconicaciduria Type II" EXACT [] synonym: "3-methylglutaconic aciduria type II" EXACT [] synonym: "BTHS" EXACT [] synonym: "cardioskeletal myopathy-neutropenia syndrome" EXACT [] synonym: "cardioskeletal myopathy with neutropenia and abnormal mitochondria" EXACT [] synonym: "MGA2" EXACT [] synonym: "MGA type 2" EXACT [] synonym: "MGA type II" EXACT [] synonym: "MGCA2" EXACT [] synonym: "X-linked cardioskeletal myopathy and neutropenia" EXACT [] xref: GARD:5890 xref: ICD10CM:E78.71 xref: MESH:D056889 xref: MIM:302060 xref: MONDO:0010543 xref: NCI:C84585 xref: ORDO:111 is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050477 name: Liddle syndrome def: "A renal tubular transport disease that is characterized by hypertension and hypokalemia caused by dysregulation of epithelial sodium channels causing over expression of the channel. (DO)" [https://en.wikipedia.org/wiki/Liddle%27s_syndrome "DO"] synonym: "Liddle's syndrome" EXACT [] synonym: "LIDLS" EXACT [] synonym: "pseudoaldosteronism" EXACT [] xref: GARD:7381 xref: MESH:D056929 xref: MIM:PS177200 xref: NCI:C84827 is_a: DOID:225 ! syndrome is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0050480 name: epidemic typhus def: "A typhus that has_material_basis_in Rickettsia prowazekii, which is transmitted by human body louse (Pediculus humanus corporis). The infection has_symptom high fever, has_symptom cough, has_symptom rash, has_symptom severe muscle pain, has_symptom chills, has_symptom falling blood pressure, has_symptom stupor, has_symptom sensitivity to light, and has_symptom delirium. (DO)" [http://en.wikipedia.org/wiki/Epidemic_typhus "DO"] synonym: "epidemic louse-borne typhus fever due to Rickettsia prowazekii" EXACT [] synonym: "jail fever" EXACT [] synonym: "louse-borne epidemic typhus" EXACT [] synonym: "louse-borne rickettsiosis" EXACT [] synonym: "louse-borne typhus" EXACT [] synonym: "sylvatic typhus" EXACT [] xref: MESH:D014438 is_a: DOID:11256 ! typhus [Term] id: DOID:0050481 name: endemic typhus def: "A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. (DO)" [http://en.wikipedia.org/wiki/Murine_typhus "DO"] synonym: "cat flea rickettsiosis" EXACT [] synonym: "endemic flea-borne typhus" EXACT [] synonym: "endemic typhus fever" EXACT [] synonym: "flea-borne rickettsiosis" EXACT [] synonym: "flea-borne typhus" EXACT [] synonym: "fleaborne typhus" EXACT [] synonym: "murine [endemic] typhus" EXACT [] synonym: "murine typhus" EXACT [] synonym: "rat-flea typhus" EXACT [] synonym: "rickettsia felis spotted fever" EXACT [] synonym: "shop typhus" EXACT [] synonym: "toulon typhus" EXACT [] synonym: "urban typhus" EXACT [] synonym: "urban typhus of Malaya" EXACT [] xref: MESH:D014437 xref: MONDO:0000330 xref: NCI:C84688 xref: ORDO:83315 is_a: DOID:11256 ! typhus [Term] id: DOID:0050484 name: aneruptive fever def: "A spotted fever that has_material_basis_in Rickettsia helvetica, which is transmitted_by ticks (Ixodes sp). The infection has_symptom fever, has_symptom headache, has_symptom myalgia. (DO)" [http://jcm.asm.org/cgi/reprint/42/2/816 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Rickettsia helvetica spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:0050485 name: sennetsu fever def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Neorickettsia sennetsu, which is transmitted_by ingestion of raw or under-cooked gray mullet fish infected with the trematodes. The infection has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom fatigue, has_symptom chills, has_symptom headache, has_symptom backache and has_symptom myalgia. (DO)" [https://rarediseases.org/rare-diseases/sennetsu-fever/ "DO"] synonym: "Human Ehrlichial infection, Sennetsu type" EXACT [] synonym: "Sennetsu ehrlichiosis" EXACT [] xref: GARD:120 xref: MESH:C537582 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:10242 ! ehrlichiosis [Term] id: DOID:0050486 name: exanthem def: "A skin disease that is characterized by a rash that results from a variety of causes including bacteria, viruses, toxins, drugs and autoimmune disorders. (DO)" [https://en.wikipedia.org/wiki/Exanthem "DO"] synonym: "exanthema" EXACT [] synonym: "rash" EXACT [] synonym: "skin rash" EXACT [] xref: EFO:1000697 xref: ICD10CM:R21 xref: ICD9CM:782.1 xref: MESH:D005076 xref: NCI:C111884 xref: NCI:C39594 is_a: DOID:37 ! skin disease [Term] id: DOID:0050487 name: bacterial exanthem def: "An exanthem that is characterized by a diffuse, reddened, blanchable, finely papular, sandpaper like rash due to infection by group A streptococcus and the production of an erythrogenic toxin. (DO)" [https://en.wikipedia.org/wiki/Scarlet_fever#Rash "DO"] xref: EFO:1000671 is_a: DOID:0050486 ! exanthem is_a: DOID:104 ! bacterial infectious disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050488 name: early congenital syphilis def: "A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. (DO)" [http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html "DO"] is_a: DOID:9856 ! congenital syphilis [Term] id: DOID:0050489 name: multinodular goiter def: "A goiter characterized by a multinodular enlargement of the thyroid gland. (DO)" [http://en.wikipedia.org/wiki/Multinodular_goitre "DO"] xref: MIM:PS138800 is_a: DOID:13197 ! nodular goiter [Term] id: DOID:0050490 name: parenchymatous neurosyphilis def: "A tertiary neurosyphilis that results when chronic meningoencephalitis causes destruction of cortical parenchyma. The infection has_symptom irritability, has_symptom difficulty concentrating, has_symptom deterioration of memory, has_symptom defective judgment, has_symptom headaches, has_symptom insomnia, has_symptom fatigue, and has_symptom lethargy. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"] xref: RDO:9002432 is_a: DOID:9988 ! tertiary neurosyphilis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050491 name: meningovascular neurosyphilis def: "A tertiary neurosyphilis that results in inflammation located_in arteries of the brain or located_in arteries of spinal cord. The infection has_symptom headache, has_symptom neck stiffness, has_symptom dizziness, has_symptom behavioral abnormalities, has _symptom poor concentration, has_symptom memory loss, has _symptom lassitude, has_symptom insomnia, has_symptom blurred vision, has_symptom weakness and wasting of shoulder-girdle and arm muscles, has_symptom slowly progressive leg weakness with urinary or fecal incontinence or both, and has_symptom paralysis of the legs due to thrombosis of spinal arteries. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"] is_a: DOID:9988 ! tertiary neurosyphilis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050495 name: exanthema subitum def: "A viral infectious disease that results_in infection in infants and children, located_in skin, has_material_basis_in Human herpesvirus 6 or has_material_basis_in Human herpesvirus 7 and has_symptom sudden high fever, and has_symptom red rash that occurs first on the trunk then spreading to legs and neck. (DO)" [http://en.wikipedia.org/wiki/Exanthema_subitum "DO"] synonym: "Roseola Infantum" EXACT [] synonym: "Sixth Disease" EXACT [] xref: EFO:1001320 xref: ICD10CM:B08.2 xref: ICD9CM:058.1 xref: MESH:D005077 is_a: DOID:0050486 ! exanthem is_a: DOID:9001063 ! Viral Skin Diseases is_a: DOID:9002501 ! Roseolovirus Infections [Term] id: DOID:0050508 name: variola major def: "A smallpox that results_in severe infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. (DO)" [http://www.who.int/csr/disease/smallpox/en/ "DO"] xref: ICD9CM:050.0 is_a: DOID:8736 ! smallpox created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050513 name: spinal polio def: "A paralytic poliomyelitis that results in destruction located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, and has symptom paralysis of arms and legs. (DO)" [http://en.wikipedia.org/wiki/Poliomyelitis "DO"] is_a: DOID:0050515 ! paralytic poliomyelitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050514 name: bulbospinal polio def: "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem or located in motor neurons of spinal cord, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty swallowing, and has symptom paralysis of arms and legs. (DO)" [http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms "DO"] is_a: DOID:0050515 ! paralytic poliomyelitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050515 name: paralytic poliomyelitis def: "A poliomyelitis that results in destruction located in motor neurons of central nervous system, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom loss of reflexes, has symptom muscle spasms, and has symptom acute flaccid paralysis. (DO)" [http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms "DO", https://www.sciencedirect.com/topics/neuroscience/paralytic-polio "DO"] is_a: DOID:4953 ! poliomyelitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050516 name: O'nyong'nyong fever def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Onyong-nyong virus, which is transmitted_by Anopheles gambiae, and transmitted_by Anopheles funestus mosquitoes. The infection has_symptom fever, has_symptom arthralgia, has_symptom rash, and has_symptom lymphadenitis. (DO)" [http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PA21&lpg#v=onepage&q&f=false "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050517 name: Barmah Forest virus disease def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Barmah Forest virus, which is transmitted_by mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)" [https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/barmah-forest-virus-disease "DO"] xref: RDO:9004309 is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050518 name: Ross River fever def: "A viral infectious disease that results_in infection located_in joint, has_material_basis_in Ross River virus, which is transmitted_by Culex, and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom arthralgia, and has_symptom rash. (DO)" [http://en.wikipedia.org/wiki/Ross_River_fever "DO"] synonym: "Ross River virus disease" EXACT [] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050521 name: Oropouche fever def: "A viral infectious disease that results in infection, has_material_basis_in Oropouche virus, which is transmitted by biting midge, Culicoides paraensis. The infection has symptom fever, has symptom chills, has symptom headache, has symptom anorexia, has symptom muscle pain, has symptom joint pain, and has symptom vomiting. (DO)" [http://en.wikipedia.org/wiki/Oropouche_fever "DO", http://www.cdc.gov/EID/content/13/6/912.htm "DO"] is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050522 name: Balkan hemorrhagic fever def: "A hemorrhagic fever with renal syndrome that results in infection located in kidney, has_material_basis_in Dobrava-Belgrade virus, which is transmitted by yellow-necked field mouse, Apodemus flavicollis. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. (DO)" [https://en.wikipedia.org/wiki/Dobrava-Belgrade_orthohantavirus "DO", https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome "DO"] is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050523 name: adult T-cell leukemia/lymphoma def: "A T-cell acute leukemia that results_in abnormal increase of lymphocytes, derives_from T-cells, has_material_basis_in Human T-lymphotropic virus 1 (HTLV-1), which is transmitted_by sexual contact, transmitted_by contaminated needles used by intravenous-drug users, and transmitted_by breast feeding. The infection results_in_formation_of skin lesions. (DO)" [http://en.wikipedia.org/wiki/Adult_T-cell_leukemia/lymphoma "DO"] synonym: "acute T-cell leukemia lymphoma, HTLV I associated" EXACT [] synonym: "adult T-cell leukemia" EXACT [] synonym: "Adult T-cell leukemia/lymphoma (HTLV-1 positive)" EXACT [] synonym: "adult T-cell leukemia-lymphomas" EXACT [] synonym: "adult T-cell leukemias" EXACT [] synonym: "ATLL" EXACT [] synonym: "HTLV Associated Leukemia Lymphoma" EXACT [] synonym: "HTLV-Associated Leukemia-Lymphomas" EXACT [] synonym: "HTLV I Associated T Cell Leukemia Lymphoma" EXACT [] synonym: "HTLV-I-Associated T-Cell Leukemia-Lymphomas" EXACT [] synonym: "human T-cell leukemia lymphoma" EXACT [] synonym: "human T-cell leukemia-lymphomas" EXACT [] synonym: "human T lymphotropic virus associated leukemia lymphoma" EXACT [] xref: GARD:13103 xref: ICD10CM:C91.5 xref: ICDO:9827/3 xref: MESH:D015459 is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0050524 name: maturity-onset diabetes of the young alt_id: MIM:606391 def: "A diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutations in the MODY genes impacting beta-cell function, typically occurring before 25 years of age and caused by primary insulin secretion defects. (DO)" [http://en.wikipedia.org/wiki/Maturity_onset_diabetes_of_the_young "DO"] synonym: "Mason-type diabetes" EXACT [] synonym: "maturity-onset diabetes mellitus in young" EXACT [] synonym: "MODY" EXACT [] xref: GARD:3697 xref: ICD10CM:E11.8 xref: MESH:C562772 xref: NCI:C114769 xref: ORDO:552 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:0050526 name: Gamstorp-Wohlfart syndrome alt_id: MIM:137200 def: "A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. (DO)" [http://ghr.nlm.nih.gov/condition/autosomal-recessive-axonal-neuropathy-with-neuromyotonia "DO"] synonym: "acquired neuromyotonia" EXACT [] synonym: "AUTOSOMAL RECESSIVE AXONAL NEUROPATHY WITH NEUROMYOTONIA" EXACT [] synonym: "autosomal recessive neuromyotonia and axonal neuropathy" EXACT [] synonym: "continuous muscle activity syndrome" EXACT [] synonym: "Continuous Myokymia" EXACT [] synonym: "continuous myokymias" EXACT [] synonym: "Isaacs Mertens Syndrome" EXACT [] synonym: "Isaacs-Mertens Syndromes" EXACT [] synonym: "Isaacs Pseudomyotonia Syndrome" EXACT [] synonym: "Isaacs Syndrome" EXACT [] synonym: "Isaac Syndrome" EXACT [] synonym: "myokymia, myotonia and muscle wasting" EXACT [] synonym: "Myokymia, Myotonia, Muscle Wasting, And Hyperhidrosis" EXACT [] synonym: "Neuromyotonia" EXACT [] synonym: "NMAN" EXACT [] synonym: "Pseudomyotonia" EXACT [] synonym: "pseudomyotonia syndrome of Isaacs" EXACT [] synonym: "quantal squander" EXACT [] synonym: "syndrome of continuous muscle activity" EXACT [] xref: GARD:12353 xref: MESH:D020386 xref: NCI:C202012 is_a: DOID:0080000 ! muscular disease is_a: DOID:225 ! syndrome [Term] id: DOID:0050528 name: nonphotosensitive trichothiodystrophy 4 alt_id: MIM:234050 def: "A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO"] synonym: "HAIR-BRAIN SYNDROME" EXACT [] synonym: "nonphotosensitive trichothiodystrophy 1" EXACT [] synonym: "Pollitt syndrome" EXACT [] synonym: "trichorrhexis nodosa syndrome" EXACT [] synonym: "trichothiodystrophy-neurocutaneous syndrome" EXACT [] synonym: "trichothiodystrophy-neurotrichocutaneous syndrome of Pollitt" EXACT [] synonym: "TTD4" EXACT [] synonym: "TTDN1" EXACT [] xref: MESH:C536556 xref: NCI:C146899 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0050529 name: adult spinal muscular atrophy alt_id: MESH:C538417 alt_id: MESH:C563948 def: "A spinal muscular atrophy that is characterized by progressive muscular weakness and motor disability that typically presents in the third decade of life and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO"] synonym: "SMA4" EXACT [] synonym: "spinal muscular atrophy 4" EXACT [] synonym: "spinal muscular atrophy, adult form" EXACT [] synonym: "spinal muscular atrophy, proximal, adult, autosomal recessive" EXACT [] synonym: "spinal muscular atrophy, type IV" EXACT [] xref: MIM:271150 xref: ORDO:83420 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0050530 name: intermediate spinal muscular atrophy def: "A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. (DO)" [https://rarediseases.info.nih.gov/diseases/4945/spinal-muscular-atrophy-type-2 "DO"] synonym: "SMA2" EXACT [] synonym: "SMA II" EXACT [] synonym: "spinal muscular atrophy 2" EXACT [] synonym: "spinal muscular atrophy, infantile chronic form" EXACT [] synonym: "spinal muscular atrophy, intermediate type" EXACT [] synonym: "spinal muscular atrophy, type 2" EXACT [] synonym: "spinal muscular atrophy, type II" EXACT [] xref: MIM:253550 xref: MONDO:0009673 xref: NCI:C156310 xref: ORDO:83418 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060160 ! childhood spinal muscular atrophy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050534 name: congenital stationary night blindness def: "A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. (DO)" [http://disorders.eyes.arizona.edu/disorders/night-blindness-congenital-stationary-csnbad3 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1245/ "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772254/ "DO", http://www.omim.org/entry/610444 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=215 "DO"] synonym: "congenital essential nyctalopia" EXACT [] synonym: "congenital stationary night blindness, complete, autosomal recessive" NARROW [] synonym: "congenital stationary night blindness, dominant" NARROW [] synonym: "congenital stationary night blindness, recessive" NARROW [] synonym: "congenital stationary night blindness, type 1" EXACT [] synonym: "CRSD" EXACT [] synonym: "CSNB, complete, autosomal recessive" NARROW [] synonym: "CSNB, incomplete, autosomal recessive" NARROW [] synonym: "CSNB, incomplete, X-linked" NARROW [] synonym: "hemeralopia-myopia" EXACT [] synonym: "myopia-night blindness" NARROW [] synonym: "NBM1 nyctalopia" NARROW [] synonym: "XLCSNB" NARROW [] synonym: "X-linked congenital stationary night blindness" NARROW [] synonym: "X-linked CSNB" NARROW [] xref: MESH:C536122 xref: MIM:PS310500 xref: ORDO:215 is_a: DOID:0080015 ! physical disorder is_a: DOID:11830 ! myopia is_a: DOID:8498 ! hereditary night blindness [Term] id: DOID:0050535 name: exudative vitreoretinopathy def: "A retinal vascular disease characterized by the prevention of blood vessel formation at the edges of the retina and the hemorrhage of the blood vessels in the retina. (DO)" [http://en.wikipedia.org/wiki/Familial_exudative_vitreoretinopathy "DO", http://ghr.nlm.nih.gov/condition/familial-exudative-vitreoretinopathy "DO"] synonym: "familial exudative vitreoretinopathy" EXACT [] synonym: "FEVR" EXACT [] xref: GARD:1613 xref: ICD10CM:H35.00 xref: ICD9CM:362.10 xref: MESH:D000080345 xref: MIM:PS133780 xref: ORDO:891 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9008296 ! Eye Abnormalities created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0050537 name: posterior polar cataract def: "A cataract that is characterized by a distinctive discoid lens opacity situated posteriorly and adjacent to the posterior capsule. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3729648/ "DO"] is_a: DOID:83 ! cataract created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0050538 name: Charcot-Marie-Tooth disease type 1 alt_id: RDO:9002093 alt_id: RDO:9002804 def: "A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO"] synonym: "Charcot Marie Tooth disease, type I" EXACT [] synonym: "Charcot Marie Tooth, type 1" EXACT [] synonym: "hereditary motor and sensory neuropathy type 1" EXACT [] synonym: "Hereditary Type I Motor and Sensory Neuropathy" EXACT [] synonym: "HMN distal type I" EXACT [] synonym: "HMSN1" EXACT [] synonym: "HMSN I" EXACT [] synonym: "HMSN type I" EXACT [] xref: GARD:12433 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0050539 name: Charcot-Marie-Tooth disease type 2 def: "A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/25098539 "DO"] synonym: "Charcot-Marie-Tooth disease, type II" EXACT [] synonym: "Charcot-Marie-Tooth, type 2" EXACT [] synonym: "hereditary motor and sensory neuropathy Guadalajara neuronal type" EXACT [] synonym: "hereditary motor and sensory neuropathy Okinawa type" EXACT [] synonym: "hereditary motor and sensory neuropathy type 2" EXACT [] synonym: "hereditary motor and sensory neuropathy type II" EXACT [] synonym: "HMSN II" EXACT [] synonym: "HMSN type II" EXACT [] xref: GARD:12431 xref: ICD9CM:356.0 xref: ORDO:64746 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050540 name: Charcot-Marie-Tooth disease type 3 def: "A Charcot-Marie-Tooth disease that is characterized by motor and sensory peripheral neuropathies caused by demyelination. (DO)" [https://en.wikipedia.org/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease "DO"] synonym: "CMT3" EXACT [] synonym: "Dejerine Sottas disease" EXACT [] synonym: "Dejerine-Sottas hypertrophic neuropathy" EXACT [] synonym: "Dejerine Sottas neuropathy" EXACT [] synonym: "Dejerine-Sottas neuropathy, autosomal dominant" EXACT [] synonym: "Dejerine Sottas syndrome" EXACT [] synonym: "Dejerine-Sottas syndrome, autosomal dominant" EXACT [] synonym: "Dejerine-Sottas syndrome, autosomal recessive" EXACT [] synonym: "DSN" EXACT [] synonym: "DSS" EXACT [] synonym: "hereditary motor and sensory neuropathy 3" EXACT [] synonym: "hereditary motor and sensory neuropathy type III" EXACT [] synonym: "HMSN3" EXACT [] synonym: "HMSN type III" EXACT [] synonym: "hypertrophic neuropathy of Dejerine Sottas" EXACT [] synonym: "PRX-RELATED CONDITION" BROAD [] xref: GARD:9204 xref: MIM:145900 xref: MONDO:0007790 xref: NCI:C133087 xref: ORDO:64748 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050541 name: Charcot-Marie-Tooth disease type 4 def: "A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO"] synonym: "Charcot-Marie-Tooth disease, type IV" EXACT [] synonym: "Charcot-Marie-Tooth, type 4" EXACT [] synonym: "hereditary motor and sensory neuropathy" EXACT [] synonym: "hereditary motor and sensory neuropathy 4" EXACT [] xref: GARD:12440 xref: ORDO:64749 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050542 name: Charcot-Marie-Tooth disease type X def: "A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. (DO)" [http://www.ninds.nih.gov/disorders/charcot_marie_tooth/detail_charcot_marie_tooth.htm "DO"] synonym: "Charcot-Marie-Tooth neuropathy X" EXACT [] synonym: "Charcot-Marie-Tooth, X-linked" EXACT [] xref: ORDO:64747 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050543 name: Charcot-Marie-Tooth disease intermediate type def: "A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=93114 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16775371 "DO"] synonym: "AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE" NARROW [] synonym: "Charcot-Marie-Tooth disease dominant intermediate" NARROW [] synonym: "Charcot-Marie-Tooth disease recessive intermediate" NARROW [] synonym: "Charcot-Marie-Tooth, intermediate" RELATED [] is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050544 name: hypermethioninemia alt_id: MIM:250850 def: "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body. (DO)" [http://en.wikipedia.org/wiki/Hypermethioninemia "DO"] synonym: "Deficiency of Methionine Adenosyltransferase" EXACT [] synonym: "Hepatic Methionine Adenosyltransferase Deficiency" EXACT [] synonym: "Hypermethioninemia, Isolated Persistent" EXACT [] synonym: "MAT DEFICIENCY" EXACT [] synonym: "MAT I/III DEFICIENCY" EXACT [] synonym: "methionine adenosyltransferase deficiency" EXACT [] synonym: "methionine adenosyltransferase deficiency, autosomal dominant" NARROW [] synonym: "methionine adenosyltransferase deficiency, autosomal recessive" NARROW [] synonym: "methionine adenosyltransferase I/III deficiency" EXACT [] synonym: "Methioninemia" EXACT [] synonym: "S-Adenosylhomocysteine Hydrolase Deficiency" EXACT [] xref: EFO:0009069 xref: MESH:C564683 xref: NCI:C123435 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0050545 name: visceral heterotaxy alt_id: MIM:208530 def: "A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. (DO)" [http://en.wikipedia.org/wiki/Situs_ambiguus "DO"] synonym: "asplenia syndrome" EXACT [] synonym: "asplenia syndromes" EXACT [] synonym: "asplenia with cardiovascular anomalies" EXACT [] synonym: "bilateral right-sidedness sequence" EXACT [] synonym: "GDF1-RELATED CONDITION" BROAD [] synonym: "GDF1-RELATED DISORDERS" BROAD [] synonym: "heterotaxia" EXACT [] synonym: "heterotaxia syndrome" EXACT [] synonym: "heterotaxy syndrome" EXACT [] synonym: "heterotaxy syndromes" EXACT [] synonym: "HETEROTAXY, VISCEROATRIAL, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Left Atrial Isomerism" EXACT [] synonym: "left atrial isomerisms" EXACT [] synonym: "Left Atrial Isomerism with Polysplenia" EXACT [] synonym: "POLYASPLENIA" NARROW [] synonym: "Polysplenia Syndrome" EXACT [] synonym: "Polysplenia Syndromes" EXACT [] synonym: "RAI" EXACT [] synonym: "situs ambiguus" EXACT [] synonym: "situs ambiguus viscerum" EXACT [] synonym: "situs ambiguus viscerums" EXACT [] synonym: "situs ambiguus with asplenia" EXACT [] synonym: "situs ambiguus with polysplenia" EXACT [] synonym: "VAH, autosomal recessive" NARROW [] synonym: "visceral heterotaxies" EXACT [] xref: EFO:0009081 xref: GARD:10875 xref: MESH:D059446 xref: MIM:PS306955 xref: ORDO:450 is_a: DOID:0080015 ! physical disorder is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:2529 ! splenic disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050546 name: congenital adrenal insufficiency alt_id: MESH:C566131 alt_id: MIM:613743 def: "An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. (DO)" [https://en.wikipedia.org/wiki/Adrenal_insufficiency "DO"] synonym: "congenital adrenal insufficiency, with 46,XY sex reversal" EXACT [] synonym: "congenital adrenal insufficiency, with 46,XY sex reversal, partial or complete" EXACT [] synonym: "P450scc deficiency" EXACT [] xref: MESH:C566130 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:14448 ! 46,XY sex reversal is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:0050547 name: familial medullary thyroid carcinoma def: "A thyroid gland medullary carcinoma that has_material_basis_in a mutation in the RET gene on chromosome 10. Familial MTC can also be caused by mutations in the NTRK1 gene located on 1q21-q22. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", https://www.omim.org/entry/155240 "DO"] synonym: "familial medullary thyroid cancer" EXACT [] synonym: "FMTC" EXACT [] synonym: "MEN2A and FMTC" EXACT [] synonym: "MTC" EXACT [] synonym: "MTC1" EXACT [] xref: EFO:1001957 xref: MESH:C536911 xref: MIM:155240 xref: MONDO:0007958 is_a: DOID:0050430 ! multiple endocrine neoplasia type 2A is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3973 ! medullary thyroid carcinoma [Term] id: DOID:0050548 name: hereditary sensory neuropathy alt_id: OMIA:001514 def: "A neuropathy characterized by congenital insensitivity to pain resulting in ulceration to the fingers, tongue, lips, and other distal appendages. (DO)" [http://omim.org/entry/616488?search=616488&highlight=616488 "DO"] synonym: "acral mutilation syndrome" NARROW [] synonym: "AMS" NARROW [] synonym: "congenital sensory neuropathies" EXACT [] synonym: "congenital sensory neuropathy" EXACT [] synonym: "hereditary sensory and autonomic neuropathies" EXACT [] synonym: "hereditary sensory and autonomic neuropathy" EXACT [] synonym: "hereditary sensory neuropathies" EXACT [] synonym: "hereditary sensory radicular neuropathy" EXACT [] synonym: "hereditary sensory radicular neuropathy, autosomal dominant" EXACT [] synonym: "hereditary sensory radicular neuropathy, autosomal recessive" EXACT [] synonym: "hereditary sensory radicular neuropathy, recessive form" EXACT [] synonym: "HSAN" EXACT [] synonym: "HSAN (hereditary sensory autonomic neuropathy)" EXACT [] xref: MESH:D009477 xref: MIM:PS162400 is_a: DOID:1389 ! polyneuropathy is_a: DOID:870 ! neuropathy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0050553 name: proteasome-associated autoinflammatory syndrome 1 def: "A proteasome-associated autoinflammatory syndrome that is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation and that has_material_basis_in homozygous mutation in the PSMB8 gene on chromosome 6p21 or a heterozygous mutation in the PSMB8 gene and a heterozygous mutation in either the PSMA3 gene on chromosome 14q23 or in the PSMB4 gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21129723/ "DO", https://pubmed.ncbi.nlm.nih.gov/21852578/ "DO", https://pubmed.ncbi.nlm.nih.gov/21881205/ "DO", https://www.nomidalliance.org/candle.php "DO"] synonym: "ALDD" EXACT [] synonym: "autoinflammation, lipodystrophy, and dermatosis syndrome" EXACT [] synonym: "CANDLE" EXACT [] synonym: "chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome" EXACT [] synonym: "JMP syndrome" EXACT [] synonym: "joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy" EXACT [] synonym: "Nakajo-Nishimura syndrome" EXACT [] synonym: "NKJO" EXACT [] synonym: "PRAAS1" EXACT [] synonym: "proteasome-associated autoinflammatory syndrome 1, digenic" NARROW [] xref: GARD:10988 xref: GARD:3916 xref: GARD:3917 xref: MIM:256040 xref: NCI:C176619 xref: ORDO:324999 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0050554 name: X-linked sideroblastic anemia with ataxia alt_id: DOID:0060064 def: "A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-sideroblastic-anemia-and-ataxia "DO"] synonym: "Anemia, sideroblastic, spinocerebellar ataxia" EXACT [] synonym: "ASAT" EXACT [] synonym: "Pagon Bird Detter syndrome" EXACT [] synonym: "SCAX6" EXACT [] synonym: "sex-linked hypochromic sideroblastic anemia" EXACT [] synonym: "sideroblastic anemia and ataxia" EXACT [] synonym: "sideroblastic anemia and spinocerebellar ataxia" EXACT [] synonym: "sideroblastic anemia with spinocerebellar ataxia" EXACT [] synonym: "X-linked sideroblastic anaemia and ataxia" EXACT [] synonym: "X-linked sideroblastic anaemia with ataxia" EXACT [] synonym: "X-linked sideroblastic anemia and ataxia" EXACT [] synonym: "X-linked spinocerebellar ataxia-6 with or without sideroblastic anemia" EXACT [] synonym: "XLSA-A" EXACT [] xref: GARD:668 xref: MESH:C536358 xref: MIM:301310 xref: MONDO:0010524 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:8955 ! sideroblastic anemia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0050557 name: congenital muscular dystrophy def: "A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. (DO)" [http://rarediseases.org/rare-diseases/congenital-muscular-dystrophy/ "DO", https://www.ninds.nih.gov/health-information/disorders/muscular-dystrophy "DO"] synonym: "CMD" EXACT [] synonym: "congenital muscular dystrophy, alpha-dystroglycan related" NARROW [] xref: GARD:9138 xref: ICD9CM:359.0 xref: ORDO:97242 is_a: DOID:0080015 ! physical disorder is_a: DOID:9884 ! muscular dystrophy created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050558 name: Ullrich congenital muscular dystrophy def: "A congenital muscular dystrophy that is characterized by congenital weakness, hypotonia, proximal joint contractures, marked hyperlaxity of the distal joints, with a loss of ambulation (if achieved) and uniform respiratory insufficiency during childhood that has_material_basis_in mutations in COL6A1, COL6A2 and COL6A3 genes. (DO)" [https://en.wikipedia.org/wiki/Ullrich_congenital_muscular_dystrophy "DO"] synonym: "COL6A1-RELATED DISORDER" BROAD [] synonym: "late onset scleroatonic familial myopathy" EXACT [] synonym: "muscular dystrophy, Ullrich type" EXACT [] synonym: "scleroatonic muscular dystrophy" EXACT [] synonym: "UCMD" EXACT [] synonym: "Ullrich congenital muscular dystrophy, autosomal dominant" NARROW [] synonym: "Ullrich congenital muscular dystrophy, autosomal recessive" NARROW [] synonym: "Ullrich congenital muscular dystrophy, digenic, COL6A1/COL6A2" NARROW [] synonym: "Ullrich disease" EXACT [] synonym: "Ullrich scleroatonic muscular dystrophy" EXACT [] xref: GARD:4769 xref: MESH:C537521 xref: MIM:PS254090 xref: MONDO:0000355 xref: NCI:C123438 xref: OMIA:001967 xref: ORDO:75840 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007896 ! Sclerosis is_a: DOID:9007913 ! Collagen VI-related Myopathy [Term] id: DOID:0050559 name: Fukuyama congenital muscular dystrophy def: "A congenital muscular dystrophy-dystroglycanopathy type A that is characterized by muscle weakness, failure to thrive, severe intellectual and developmental disability, impaired vision and cardiac abnormalities and has_material_basis_in mutation in the FKTN gene that produces the fukutin protein. (DO)" [https://ghr.nlm.nih.gov/condition/fukuyama-congenital-muscular-dystrophy "DO"] synonym: "FCMD" EXACT [] synonym: "Fukuyama CMD" EXACT [] synonym: "Fukuyama muscular dystrophy" EXACT [] synonym: "Fukuyama Syndrome" EXACT [] synonym: "Fukuyama type cerebromuscular dystrophy" EXACT [] synonym: "Fukuyama type congenital muscular dystrophy" EXACT [] synonym: "MDDGA4" EXACT [] synonym: "muscular dystrophy due to defective glycosylation of dystroglycan 4A" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A4" EXACT [] synonym: "Walker-Warburg syndrome, FKTN-related" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKTN-related" EXACT [] xref: GARD:6475 xref: MIM:253800 xref: ORDO:272 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0050560 name: Walker-Warburg syndrome def: "A congenital muscular dystrophy that is characterized by hypotonia, seizures, severe intellectual and developmental disability, eye abnormalities and early death and has_material_basis_in mutations in multiple genes including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE1. (DO)" [https://ghr.nlm.nih.gov/condition/walker-warburg-syndrome "DO"] synonym: "alpha dystroglycanopathies" EXACT [] synonym: "Chemke syndrome" EXACT [] synonym: "MEB (Muscle-Eye-Brain) Syndrome" EXACT [] synonym: "Muscle Eye Brain Disease" EXACT [] synonym: "Muscle-Eye-Brain Diseases" EXACT [] synonym: "Muscular Dystrophy, Limb-Girdle, Autosomal Recessive, With Mental Retardation" EXACT [] synonym: "Pagon syndrome" EXACT [] synonym: "Pagon syndromes" EXACT [] synonym: "WALKER-WARBURG CONGENITAL MUSCULAR DYSTROPHY" NARROW [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, TMEM5-related" EXACT [] synonym: "Warburg syndrome" EXACT [] xref: GARD:2599 xref: MESH:D058494 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9003328 ! Cobblestone Lissencephaly [Term] id: DOID:0050561 name: Lennox-Gastaut syndrome alt_id: MESH:C535500 alt_id: MIM:606369 def: "A childhood electroclinical syndrome that is characterized by frequent seizures and intellectual disability that present in early childhood. (DO)" [https://ghr.nlm.nih.gov/condition/lennox-gastaut-syndrome "DO"] synonym: "childhood epileptic encephalopathy with diffuse slow spikes and waves" EXACT [] synonym: "epileptic encephalopathy, Lennox-Gastaut type" EXACT [] synonym: "Lennox-Gastaut syndromes" EXACT [] synonym: "Lennox syndrome" EXACT [] synonym: "macrocephaly and epileptic encephalopathy" EXACT [] xref: GARD:9912 xref: MESH:D065768 xref: NCI:C84816 xref: ORDO:2382 is_a: DOID:0050704 ! childhood electroclinical syndrome [Term] id: DOID:0050562 name: West syndrome alt_id: OMIA:001471 def: "An infancy electroclinical syndrome that is characterized by infantile spasms, hypsarrhythmia on electroencephalogram and intellectual disability. (DO)" [https://rarediseases.org/rare-diseases/west-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24268986 "DO"] synonym: "Cryptogenic Infantile Spasm" EXACT [] synonym: "cryptogenic infantile spasms" EXACT [] synonym: "Cryptogenic West Syndrome" EXACT [] synonym: "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL DOMINANT" NARROW [] synonym: "EARLY INFANTILE EPILEPTIC ENCEPHALOPATHY, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Hypsarrhythmia" EXACT [] synonym: "hypsarrhythmias" EXACT [] synonym: "Infantile Spasm" EXACT [] synonym: "Infantile Spasms" EXACT [] synonym: "Infantile spasms syndrome" RELATED [] synonym: "Jackknife Seizure" EXACT [] synonym: "Jackknife Seizures" EXACT [] synonym: "Lightning Attack" EXACT [] synonym: "Lightning Attacks" EXACT [] synonym: "Neonatal encephalopathy with seizures" NARROW [] synonym: "Nodding Spasm" EXACT [] synonym: "Nodding Spasms" EXACT [] synonym: "Salaam Attacks" EXACT [] synonym: "Salaam Seizures" EXACT [] synonym: "Spasmus Nutans" EXACT [] synonym: "Symptomatic Infantile Spasm" EXACT [] synonym: "symptomatic infantile spasms" EXACT [] synonym: "symptomatic West syndrome" EXACT [] xref: GARD:7887 xref: MESH:D013036 xref: NCI:C84788 xref: ORDO:3451 is_a: DOID:0050703 ! infancy electroclinical syndrome is_a: DOID:9001793 ! Generalized Epilepsy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050563 name: nonsyndromic deafness def: "An auditory system disease that is associated with permanent hearing loss caused by damage to structures in the inner ear and/or the middle ear, which is not associated with other signs and symptoms. (DO)" [http://en.wikipedia.org/wiki/Nonsyndromic_hearing_loss_and_deafness "DO", http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0012742 "DO"] synonym: "isolated deafness" EXACT [] synonym: "non-syndromic genetic deafness" NARROW [] synonym: "Nonsyndromic Hearing Impairment" EXACT [] synonym: "Nonsyndromic Hearing Loss" EXACT [] synonym: "nonsyndromic hearing loss and deafness" EXACT [] synonym: "nonsyndromic hearing loss and deafness, autosomal recessive" NARROW [] synonym: "nonsyndromic hereditary hearing loss" EXACT [] synonym: "undifferentiated deafness" EXACT [] xref: EFO:0009076 xref: MESH:C580334 is_a: DOID:9008681 ! Deafness [Term] id: DOID:0050564 name: autosomal dominant nonsyndromic deafness def: "A nonsyndromic deafness characterized by an autosomal dominant inheritance mode. (DO)" [http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO"] synonym: "autosomal dominant deafness" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING IMPAIRMENT" EXACT [] synonym: "AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSS" EXACT [] synonym: "AUTOSOMAL DOMINANT NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNA" EXACT [] synonym: "DOMINANT PROGRESSIVE SENSORINEURAL HEARING LOSS" NARROW [] xref: MIM:PS124900 xref: ORDO:90635 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050565 name: autosomal recessive nonsyndromic deafness alt_id: MIM:607197 def: "A nonsyndromic deafness characterized by an autosomal recessive inheritance mode. (DO)" [http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO"] comment: OMIM:607197 is an older phenotype record for this disease. synonym: "autosomal recessive deafness" EXACT [] synonym: "AUTOSOMAL RECESSIVE NON-SYNDROMIC SENSORINEURAL DEAFNESS TYPE DFNB" EXACT [] xref: MESH:C564609 xref: MIM:PS220290 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050566 name: X-linked nonsyndromic deafness def: "A nonsyndromic deafness characterized by an X-linked inheritance mode. (DO)" [http://ghr.nlm.nih.gov/condition/nonsyndromic-deafness "DO"] synonym: "X-linked deafness" EXACT [] xref: MIM:PS304500 xref: ORDO:90625 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10003 ! sensorineural hearing loss created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0050567 name: orofacial cleft def: "A physical disorder that is characterized by cleft lip and/or cleft palate that result in feeding, speech and hearing problems caused by failures during development. (DO)" [https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate "DO", https://www.cdc.gov/ncbddd/birthdefects/surveillancemanual/chapters/chapter-4/chapter4-6.html "DO"] synonym: "CLEFT LIP/PALATE" EXACT [] synonym: "cleft lip or cleft palate" EXACT [] synonym: "FACIAL CLEFT" NARROW [] synonym: "MEDIAN CLEFT LIP AND PALATE" NARROW [] synonym: "nonsyndromic cleft lip/palate" EXACT [] synonym: "nonsyndromic orofacial cleft" EXACT [] synonym: "OFC" EXACT [] synonym: "orofacial clefting" EXACT [] synonym: "orofacial clefts" EXACT [] xref: MIM:PS119530 xref: MONDO:0000358 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9297 ! lip disease created_by: rgd creation_date: 2017-03-22T00:00:00Z [Term] id: DOID:0050568 name: spondylocostal dysostosis def: "A dysostosis that results_in abnormal development located_in vertebrae or located_in ribs. The bones of the spine do not develop properly, which causes them to be misshapen and abnormally joined together. (DO)" [http://en.wikipedia.org/wiki/Spondylocostal_dysostosis "DO", http://ghr.nlm.nih.gov/condition/spondylocostal-dysostosis "DO"] synonym: "costovertebral segmentation anomalies" EXACT [] synonym: "spondylothoracic dysplasia" EXACT [] xref: GARD:12174 xref: GARD:6798 xref: MIM:PS277300 xref: NCI:C125598 xref: ORDO:1797 xref: ORDO:2311 is_a: DOID:0060564 ! spinal disease is_a: DOID:1934 ! dysostosis created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0050569 name: Seckel syndrome def: "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. (DO)" [http://en.wikipedia.org/wiki/Seckel_syndrome "DO"] synonym: "bird-headed dwarfism" EXACT [] synonym: "Harper's syndrome" EXACT [] synonym: "microcephalic primordial dwarfism" EXACT [] synonym: "SCKL" EXACT [] synonym: "Virchow-Seckel dwarfism" EXACT [] xref: GARD:8562 xref: MIM:PS210600 xref: NCI:C125488 xref: ORDO:808 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0050570 name: congenital disorder of glycosylation type I def: "A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification "DO", https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation "DO"] synonym: "congenital disorder of glycosylation type 1" EXACT [] xref: EFO:0005545 xref: MIM:PS212065 is_a: DOID:5212 ! congenital disorder of glycosylation created_by: rgd creation_date: 2016-11-01T00:00:00Z [Term] id: DOID:0050571 name: congenital disorder of glycosylation type II def: "A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation#Classification "DO"] synonym: "CDG II" EXACT [] synonym: "CDGII" EXACT [] synonym: "congenital disorder of glycosylation type 2" EXACT [] xref: EFO:0005546 xref: MESH:C535747 xref: MIM:PS212066 is_a: DOID:5212 ! congenital disorder of glycosylation created_by: rgd creation_date: 2016-11-01T00:00:00Z [Term] id: DOID:0050572 name: cone-rod dystrophy def: "A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. (DO)" [http://lowvision.preventblindness.org/eye-conditions/cone-rod-dystrophy "DO"] synonym: "autosomal recessive cone rod dystrophy" NARROW [] synonym: "cone-rod degeneration" EXACT [] synonym: "cone rod degenerations" EXACT [] synonym: "cone-rod dystrophies" EXACT [] synonym: "cone-rod dystrophy, dominant" NARROW [] synonym: "cone-rod dystrophy, recessive" NARROW [] synonym: "cone-rod retinal dystrophies" EXACT [] synonym: "cone rod retinal dystrophy" EXACT [] synonym: "CORD" EXACT [] synonym: "CRD" EXACT [] xref: EFO:0020029 xref: GARD:10790 xref: MESH:D000071700 xref: MIM:PS120970 xref: ORDO:1872 is_a: DOID:0050177 ! monogenic disease is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050573 name: 2-hydroxyglutaric aciduria alt_id: OMIA:001371 def: "An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. (DO)" [http://en.wikipedia.org/wiki/2-Hydroxyglutaric_aciduria "DO", http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO"] synonym: "2-Hga" EXACT [] synonym: "2-hydroxyglutaricaciduria" EXACT [] xref: GARD:10761 xref: MESH:C535306 xref: NCI:C128187 is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0050574 name: L-2-hydroxyglutaric aciduria def: "An 2-hydroxyglutaric aciduria that involves damage to cerebellum affecting movement coordination resulting in problems with balance and muscle coordination (ataxia). (DO)" [http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO"] synonym: "L2HGA" EXACT [] synonym: "L2HGDH-RELATED CONDITION" EXACT [] synonym: "L-2-hydroxyglutaric acidemia" EXACT [] synonym: "L-2-hydroxyglutaricacidemia" EXACT [] xref: GARD:10472 xref: MIM:236792 xref: MONDO:0009370 xref: ORDO:79314 is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria is_a: DOID:2786 ! cerebellar disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050575 name: D-2-hydroxyglutaric aciduria def: "An 2-hydroxyglutaric aciduria that involves developmental delay, seizures, weak muscle tone (hypotonia), and abnormalities in the largest part of the brain (the cerebrum), which controls many important functions such as muscle movement, speech, vision, thinking, emotion, and memory. (DO)" [http://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO"] synonym: "D-2-alpha hydroxyglutaric aciduria" EXACT [] synonym: "D2HGA" EXACT [] xref: GARD:5661 xref: MIM:PS600721 is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050576 name: Senior-Loken syndrome def: "A syndrome characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. (DO)" [https://rarediseases.info.nih.gov/diseases/322/senior-loken-syndrome "DO"] synonym: "juvenile nephronophthisis with Leber amaurosis" EXACT [] synonym: "Renal Dysplasia And Retinal Aplasia" EXACT [] synonym: "Renal dysplasia retinal aplasia" EXACT [] synonym: "Renal-retinal syndrome" EXACT [] synonym: "Senior-Løken syndrome" EXACT [] xref: GARD:322 xref: MESH:C537580 xref: MIM:PS266900 xref: NCI:C168588 xref: ORDO:3156 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis is_a: DOID:225 ! syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0050577 name: cranioectodermal dysplasia def: "A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. (DO)" [https://en.wikipedia.org/wiki/Sensenbrenner_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/20817137/ "DO"] synonym: "Levin syndrome" EXACT [] synonym: "Sensenbrenner syndrome" EXACT [] xref: MESH:C562966 xref: MIM:PS218330 xref: NCI:C129305 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:0050578 name: occult macular dystrophy def: "A macular degeneration that is characterized by a central cone dysfunction leading to a loss of vision with a normal fundus and normal fluorescein angiography findings. (DO)" [http://www.iovs.org/content/41/2/513.full.pdf "DO"] synonym: "OCMD" EXACT [] synonym: "OMD" EXACT [] synonym: "RP1L1-RELATED CONDITION" BROAD [] xref: MIM:613587 xref: RDO:0009914 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:0050579 name: glycogen storage disease XV def: "A glycogen storage disease characterized by muscle weakness and cardiac abnormalities caused and has_material_basis_in mutation in the GYG1 gene that encodes glycogenin-1. (DO)" [https://www.omim.org/entry/613507 "DO"] synonym: "glycogenin deficiency" EXACT [] synonym: "glycogen storage disease 15" EXACT [] synonym: "glycogen storage disease type XV" EXACT [] synonym: "glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency" EXACT [] synonym: "GSD15" EXACT [] synonym: "GSD XV" EXACT [] synonym: "GYG1 deficiency" EXACT [] xref: MIM:613507 xref: MONDO:0013291 xref: ORDO:263297 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0050580 name: hereditary lymphedema alt_id: MESH:C565432 def: "A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. (DO)" [http://en.wikipedia.org/wiki/Milroy%27s_disease "DO"] synonym: "congenital familial lymphedema" EXACT [] synonym: "congenital hereditary lymphedema" EXACT [] synonym: "congenital hereditary lymphedemas" EXACT [] synonym: "congenital recessive lymphedema" NARROW [] synonym: "hereditary lymphedemas" EXACT [] synonym: "PCL" EXACT [] synonym: "primary congenital lymphedema" EXACT [] synonym: "primary congenital lymphedemas" EXACT [] xref: GARD:7220 xref: ICD9CM:757.0 xref: MIM:PS153100 is_a: DOID:4977 ! lymphedema is_a: DOID:630 ! genetic disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050581 name: brachydactyly def: "A dysostosis characterized by short fingers and toes. (DO)" [http://en.wikipedia.org/wiki/Brachydactyly "DO"] synonym: "Brachydactylia" EXACT [] synonym: "brachydactylias" EXACT [] synonym: "Brachydactylies" EXACT [] synonym: "Brachydactylism" EXACT [] synonym: "brachydactylisms" EXACT [] xref: GARD:11913 xref: MESH:D059327 xref: ORDO:294937 is_a: DOID:1934 ! dysostosis is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0050584 name: gummatous syphilis def: "A tertiary syphilis that is characterized by granulomatous lesions, called gummas, which are characterized by a center of necrotic tissue with a rubbery texture. They form in the liver, bones, and testes but may affect any organ. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31437386 "DO"] xref: RDO:9002603 is_a: DOID:8200 ! tertiary syphilis created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050585 name: congenital generalized lipodystrophy def: "A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. (DO)" [https://en.wikipedia.org/wiki/Congenital_generalized_lipodystrophy "DO"] synonym: "Berardinelli Seip congenital lipodystrophy" EXACT [] synonym: "Berardinelli Seip syndrome" EXACT [] synonym: "Berardinelli syndrome" EXACT [] synonym: "Brunzell syndrome" EXACT [] synonym: "Brunzell Syndrome (with Bone Cysts)" EXACT [] synonym: "congenital generalized lipodystrophies" EXACT [] synonym: "congenital lipoatrophic diabetes" EXACT [] synonym: "generalized lipodystrophies" EXACT [] synonym: "generalized lipodystrophy" EXACT [] synonym: "Seip syndrome" EXACT [] synonym: "total lipodystrophies" EXACT [] synonym: "total lipodystrophy" EXACT [] xref: EFO:1000681 xref: GARD:13388 xref: MESH:D052497 xref: MIM:PS608594 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0080298 ! complete generalized lipodystrophy [Term] id: DOID:0050587 name: trichotillomania alt_id: MIM:613229 def: "An impulse control disorder that involves the uncontrollable plucking of ones hair. (DO)" [https://en.wikipedia.org/wiki/Trichotillomania "DO"] synonym: "trichotillomanias" EXACT [] synonym: "TTM" EXACT [] xref: GARD:7803 xref: MESH:D014256 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:0050588 name: muscular dystrophy-dystroglycanopathy type B1 alt_id: DOID:9001544 def: "A congenital muscular dystrophy characterized by muscle weakness, cognitive impairment and brain abnormalities and has_material_basis_in mutation to the POMT1 gene that encodes O-mannosyltransferase. (DO)" [https://www.omim.org/entry/613155 "DO"] synonym: "CMD due to dystroglycanopathy" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B1" EXACT [] synonym: "congenital muscular dystrophy, POMT1-related" EXACT [] synonym: "MDDGB1" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH IMPAIRED INTELLECTUAL DEVELOPMENT), TYPE B, 1" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual impairment), type B, 1" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 1" EXACT [] synonym: "Muscular dystrophy-dystroglycanopathy congenital with impaired intellectual development B1" EXACT [] xref: MIM:613155 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050589 name: inflammatory bowel disease def: "An intestinal disease characterized by inflammation located in all parts of digestive tract. (DO)" [http://en.wikipedia.org/wiki/Inflammatory_bowel_disease "DO", http://www.mayoclinic.org/diseases-conditions/inflammatory-bowel-disease/basics/definition/con-20034908 "DO"] synonym: "CROHN DISEASE-ASSOCIATED GROWTH FAILURE, SUSCEPTIBILITY TO" RELATED [] synonym: "EARLY-ONSET INFLAMMATORY BOWEL DISEASE" NARROW [] synonym: "Inflammatory bowel disease 1, susceptibility to" RELATED [] synonym: "inflammatory bowel diseases" EXACT [] synonym: "regional enteritis" NARROW [] synonym: "ulcerative colitis" NARROW [] synonym: "VERY EARLY ONSET INFLAMMATORY BOWEL DISEASE" NARROW [] xref: EFO:0003767 xref: MESH:D015212 xref: MIM:PS266600 xref: MIM:PS614328 xref: MONDO:0005265 xref: NCI:C3138 is_a: DOID:2326 ! gastroenteritis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:0050590 name: severe congenital neutropenia def: "A neutropenia characterized by a maturation arrest of granulopoiesis at the level or promyelocytes and early onset of severe bacterial infections. (DO)" [https://ghr.nlm.nih.gov/condition/severe-congenital-neutropenia "DO", https://www.ncbi.nlm.nih.gov/pubmed/17133096 "DO"] synonym: "congenital neutropenia" EXACT [] synonym: "infantile genetic agranulocytosis" EXACT [] synonym: "primary neutropenia" EXACT [] synonym: "severe infantile genetic agranulocytosis" EXACT [] synonym: "severe infantile genetic neutropenia" EXACT [] xref: GARD:13592 xref: MIM:PS202700 xref: ORDO:42738 xref: ORDO:486 xref: ORDO:86788 is_a: DOID:0080015 ! physical disorder is_a: DOID:1227 ! neutropenia created_by: rgd creation_date: 2016-01-14T00:00:00Z [Term] id: DOID:0050591 name: tooth agenesis alt_id: MIM:147330 def: "A tooth disease characterized by failure to develop one or more missing teeth. (DO)" [http://en.wikipedia.org/wiki/Hypodontia "DO"] synonym: "familial tooth agenesis" EXACT [] synonym: "hypodontia" EXACT [] synonym: "oligodontia" EXACT [] synonym: "reduced number of teeth" EXACT [] synonym: "selective tooth agenesis" EXACT [] xref: EFO:0005410 xref: MIM:PS106600 xref: NCI:C172328 xref: ORDO:2227 xref: ORDO:99798 is_a: DOID:9009007 ! Tooth Abnormalities created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050592 name: asphyxiating thoracic dystrophy def: "A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy. (DO)" [https://ghr.nlm.nih.gov/condition/asphyxiating-thoracic-dystrophy "DO"] synonym: "asphyxiating thoracic dystrophy (ATD)" EXACT [] synonym: "Jeune's syndrome" EXACT [] synonym: "Jeune syndrome" EXACT [] synonym: "Jeune thoracic dysplasia" EXACT [] synonym: "Jeune thoracic dystrophy" EXACT [] synonym: "short rib-polydactyly syndrome" EXACT [] synonym: "short rib polydactyly syndrome, Majewski type" EXACT [] synonym: "short rib-polydactyly syndromes" EXACT [] synonym: "short ribs" NARROW [] synonym: "short-rib thoracic dysplasia with or without polydactyly" EXACT [] synonym: "thoracic pelvic phalangeal dystrophy" EXACT [] xref: MESH:D012779 xref: MIM:PS208500 xref: NCI:C84794 xref: ORDO:474 is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050593 name: primary congenital glaucoma def: "A glaucoma that is characterized by damage to the optic nerves that reduces peripheral vision and leads to blindness, has_material_basis_in mutation in the MYOC gene and appears before the age of 5 without other associated abnormalities. (DO)" [https://ghr.nlm.nih.gov/condition/early-onset-glaucoma "DO"] xref: NCI:C150251 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1686 ! glaucoma is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050594 name: glycogen storage disease IX def: "A glycogen storage disease characterized by deficiency of hepatic phosphorylase kinase activity. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25266922/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17689125 "DO"] synonym: "Glycogen storage disease 9" EXACT [] synonym: "Gsd Ix" EXACT [] synonym: "Gsdix" EXACT [] synonym: "Phk Deficiency" EXACT [] synonym: "Phosphorylase B Kinase Deficiency" EXACT [] synonym: "Phosphorylase Kinase Deficiency" EXACT [] xref: MESH:C580130 xref: RDO:0015892 is_a: DOID:1168 ! familial hyperlipidemia is_a: DOID:2747 ! glycogen storage disease is_a: DOID:409 ! liver disease is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0050596 name: taeniasis def: "A parasitic helminthiasis infectious disease that has_material_basis_in Taenia solium or has_material_basis_in Taenia saginata, which are transmitted by ingestion of undercooked contaminated meat. (DO)" [http://en.wikipedia.org/wiki/Taeniasis "DO"] synonym: "beef tapeworm infection" EXACT [] synonym: "infection by Taeniarhynchus saginatus" EXACT [] synonym: "taenia infection" EXACT [] synonym: "taenia infections" EXACT [] synonym: "taenia saginata infectious disease" EXACT [] synonym: "taeniases" EXACT [] xref: EFO:1001433 xref: ICD10CM:B68.1 xref: ICD9CM:123.2 xref: MESH:D013622 is_a: DOID:9006970 ! Cestode Infections [Term] id: DOID:0050597 name: intestinal schistosomiasis def: "A schistosomiasis that involves parasitic infection of the intestine caused by Schistosoma mansoni, Schistosoma intercalatum or Schistosomiasis japonicum. The symptoms include fever, cough, abdominal pain, diarrhea, hepatosplenomegaly, colonic polyposis with bloody diarrhea and eosinophilia. (DO)" [http://en.wikipedia.org/wiki/Schistosomiasis "DO"] synonym: "intestinal schistosomiases" EXACT [] xref: EFO:1001419 xref: ICD10CM:B65.1 xref: ICD10CM:B65.2 xref: ICD9CM:120.1 xref: ICD9CM:120.2 xref: NCI:C35364 xref: ORDO:1247 is_a: DOID:1395 ! schistosomiasis is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050598 name: extrapulmonary tuberculosis def: "A tuberculosis that occurs at body sites other than the lung. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"] xref: MESH:D000092225 is_a: DOID:399 ! tuberculosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050599 name: abdominal tuberculosis def: "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"] is_a: DOID:0050598 ! extrapulmonary tuberculosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050600 name: ABCD syndrome def: "A syndrome that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). (DO)" [http://en.wikipedia.org/wiki/ABCD_syndrome "DO", http://omim.org/entry/600501 "DO"] synonym: "ABCDS" EXACT [] synonym: "albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness" EXACT [] xref: MESH:C535334 xref: MIM:600501 xref: MONDO:0010895 xref: ORDO:918 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0050601 name: ADULT syndrome def: "A syndrome that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16114047/ "DO"] synonym: "acro-dermato-ungual-lacrimal-tooth syndrome" EXACT [] synonym: "pigment anomaly ectrodactyly hypodontia" EXACT [] synonym: "propping Zerres syndrome" EXACT [] xref: GARD:384 xref: MESH:C538052 xref: MIM:103285 xref: MONDO:0007072 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:13714 ! anodontia is_a: DOID:13929 ! lacrimal duct obstruction is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0050602 name: triple-A syndrome alt_id: MIM:231550 def: "A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. (DO)" [https://ghr.nlm.nih.gov/condition/triple-a-syndrome "DO"] synonym: "AAAS" EXACT [] synonym: "AAA syndrome" EXACT [] synonym: "ACHALASIA-ADDISONIANISM-ALACRIMA (TRIPLE-A) SYNDROME" EXACT [] synonym: "achalasia-addisonianism-alacrima syndrome" EXACT [] synonym: "Achalasia Addisonianism Alacrimia Syndrome" EXACT [] synonym: "Achalasia-Addisonian Syndrome" EXACT [] synonym: "Achalasia-Alacrima Syndrome" EXACT [] synonym: "Achalasia alacrimia syndrome" EXACT [] synonym: "Acth-Resistant Adrenal Insufficiency, Achalasia And Alacrima" EXACT [] synonym: "ACTH-RESISTANT ADRENAL INSUFFICIENCY, ACHALASIA AND ALACRIMA ACHALASIA-ALACRIMA SYNDROME" NARROW [] synonym: "Alacrima-Achalasia-Addisonianism" EXACT [] synonym: "Alacrima-achalasia-adrenal insufficiency neurologic disorder" EXACT [] synonym: "Allgrove syndrome" EXACT [] synonym: "glucocorticoid deficiency and achalasia" EXACT [] synonym: "GLUCOCORTICOID DEFICIENCY WITH ACHALASIA" EXACT [] synonym: "hypoadrenalism with achalasia" EXACT [] synonym: "infantile achalasia with alacrima" EXACT [] xref: EFO:1001997 xref: GARD:457 xref: MESH:C536008 xref: MONDO:0009279 xref: NCI:C35710 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9008622 ! Adrenal Insufficiency is_a: DOID:9164 ! achalasia [Term] id: DOID:0050603 name: acheiropody alt_id: MIM:200500 def: "An osteochondrodysplasia characterized by a lack of formation of the distal extremities has_material_basis_in mutation in the LMBR1 gene. (DO)" [https://en.wikipedia.org/wiki/Acheiropodia "DO"] synonym: "acheiropodia" EXACT [] synonym: "ACHP" EXACT [] synonym: "Brazilian type acheiropody" EXACT [] synonym: "Horn-Kolb syndrome" EXACT [] xref: GARD:376 xref: MESH:C536014 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0050604 name: acrocapitofemoral dysplasia def: "An osteochondrodysplasia characterized by skeletal dysplasia, bradydactyly and narrow thorax and has_material_basis_in mutations in the Indian hedgehog homolog gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10605/acrocapitofemoral-dysplasia "DO"] synonym: "ACFD" EXACT [] synonym: "IHH-RELATED CONDITION" BROAD [] xref: GARD:10605 xref: MESH:C564334 xref: MIM:607778 xref: MONDO:0011907 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0050605 name: acrodermatitis enteropathica def: "A metal metabolism disorder characterized by dermatitis around bodily openings and the tips of fingers and toes, alopecia and diarrhea and has_material_basis_in mutation in the SLC39A4 gene that encodes a zinc uptake protein and results in zinc deficiency. (DO)" [https://en.wikipedia.org/wiki/Acrodermatitis_enteropathica "DO"] synonym: "Acrodermatitis enteropathica zinc deficiency type" EXACT [] synonym: "AEZ" EXACT [] synonym: "hereditary acrodermatitis enteropathica" NARROW [] synonym: "SLC39A4-related condition" BROAD [] xref: GARD:5723 xref: MESH:C538178 xref: MIM:201100 xref: MONDO:0008713 xref: NCI:C128802 is_a: DOID:2722 ! acrodermatitis is_a: DOID:896 ! metal metabolism disorder is_a: DOID:9003921 ! Zinc Deficiency [Term] id: DOID:0050606 name: acrokeratosis verruciformis def: "A keratosis that has_material_basis_in mutations in the ATP2A2 gene. (DO)" [https://en.wikipedia.org/wiki/Acrokeratosis_verruciformis "DO"] synonym: "acrokeratosis verruciformis of Hopf" EXACT [] synonym: "AKV" EXACT [] synonym: "Hopf acrokeratosis verruciformis" EXACT [] synonym: "Hopf disease" EXACT [] xref: EFO:1000666 xref: MIM:101900 xref: MONDO:0007048 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:161 ! keratosis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050608 name: Askin's tumor def: "An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. (DO)" [https://en.wikipedia.org/wiki/Askin%27s_tumor "DO"] synonym: "Askin's tumour" EXACT [] synonym: "Askin tumor" EXACT [] synonym: "Askin tumour" EXACT [] synonym: "EFO:1000095" EXACT [] xref: EFO:1000095 xref: MESH:C563168 is_a: DOID:3369 ! Ewing sarcoma is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:0050610 name: oral cavity carcinoma in situ def: "An in situ carcinoma of the oral cavity that is located_in the epithelium. It is the most common cause of leukoplakia and associated with the development of squamous cell carcinoma. (DO)" [https://www.dermnetnz.org/topics/carcinoma-in-situ-of-oral-cavity/ "DO"] is_a: DOID:1542 ! head and neck carcinoma is_a: DOID:403 ! mouth disease is_a: DOID:8618 ! oral cavity cancer is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050611 name: pharynx carcinoma in situ def: "An in situ carcinoma of the pharynx that is located_in the epithelium. It is associated with the development of squamous cell carcinoma. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/pharyngeal-cancer "DO"] xref: RDO:9003566 is_a: DOID:1542 ! head and neck carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050612 name: gallbladder carcinoma in situ def: "An in situ carcinoma located_in the surface epithelium of the gallbladder that most commonly develops into adenocarcinoma. (DO)" [https://en.wikipedia.org/wiki/Gallbladder_cancer "DO", https://www.cancer.org/cancer/gallbladder-cancer/detection-diagnosis-staging/staging.html "DO"] synonym: "gall bladder carcinoma in situ" EXACT [] is_a: DOID:4948 ! gallbladder carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050613 name: bile duct carcinoma in situ def: "An in situ carcinoma located_in the surface epithelium of the bile duct that most commonly develops into adenocarcinoma. (DO)" [https://en.wikipedia.org/wiki/Cholangiocarcinoma "DO"] xref: RDO:9003568 is_a: DOID:4897 ! bile duct carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050614 name: bronchus carcinoma in situ def: "An in situ carcinoma located_in the bronchus that most commonly develops into adenocarcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10858385 "DO"] xref: RDO:9003570 is_a: DOID:3904 ! bronchus carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0050615 name: respiratory system cancer def: "An organ system cancer located_in the respiratory system that is characterized by uncontrolled cellular proliferation in the respiratory tract. (DO)" [http://en.wikipedia.org/wiki/Respiratory_tract_neoplasm "DO"] xref: RDO:9002222 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9003744 ! Respiratory Tract Neoplasms created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:0050619 name: paranasal sinus cancer def: "A respiratory system cancer that is located_in the paranasal sinuses. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient/page1 "DO"] synonym: "adenoid cystic carcinoma of Accessory sinus" EXACT [NCI2004_11_17:C6019] synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [] synonym: "cancer of paranasal sinus" EXACT [] synonym: "epidermoid carcinoma of the paranasal sinus" EXACT [NCI2004_11_17:C8193] synonym: "mucoepidermoid carcinoma of accessory sinus" EXACT [NCI2004_11_17:C6018] synonym: "paranasal sinus adenocarcinoma" EXACT [] synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [] synonym: "paranasal sinus cancers" EXACT [] synonym: "paranasal sinus mucoepidermoid carcinoma" EXACT [] synonym: "paranasal sinus squamous cell carcinoma" EXACT [] synonym: "squamous cell carcinoma of paranasal sinus" RELATED [] xref: EFO:1000454 xref: NCI:C6014 xref: NCI:C6017 xref: NCI:C6018 xref: NCI:C6019 xref: NCI:C8193 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:9000118 ! Paranasal Sinus Neoplasms created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050620 name: infiltrating renal pelvis transitional cell carcinoma def: "A renal pelvis transitional cell carcinoma located_in the transitional epithelium of the renal pelvis. (DO)" [https://en.wikipedia.org/wiki/Transitional_cell_carcinoma "DO"] is_a: DOID:5974 ! renal pelvis transitional cell carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0050621 name: respiratory system benign neoplasm def: "An organ system benign neoplasm that is located in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO)" [http://en.wikipedia.org/wiki/Respiratory_system "DO"] xref: RDO:9002406 is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9003744 ! Respiratory Tract Neoplasms [Term] id: DOID:0050622 name: reproductive organ benign neoplasm def: "An organ system benign neoplasm that is located_in reproductive system organs. (DO)" [http://en.wikipedia.org/wiki/Reproductive_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:15 ! reproductive system disease is_a: DOID:9007150 ! Urogenital Neoplasms is_a: DOID:9008651 ! reproductive system neoplasm [Term] id: DOID:0050623 name: bladder benign neoplasm def: "A urinary system benign neoplasm located_in the bladder including papillomas, leiomyomas, fibromas, hemangiomas, neurofibromas and lipomas. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1398414/ "DO"] is_a: DOID:731 ! urinary system benign neoplasm is_a: DOID:9009116 ! Urinary Bladder Neoplasm created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050624 name: gastrointestinal system benign neoplasm def: "An organ system benign neoplasm located_in gastrointestinal tract organs. (DO)" [http://en.wikipedia.org/wiki/Human_gastrointestinal_tract "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9006796 ! Gastrointestinal Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050625 name: biliary tract benign neoplasm def: "A hepatobiliary benign neoplasm located_in the biliary tract. (DO)" [http://en.wikipedia.org/wiki/Hepatobiliary_system#Biliary_tract "DO"] synonym: "biliary tract neoplasms" EXACT [] synonym: "EFO:0003891" EXACT [] synonym: "extrahepatic bile duct neoplasm" EXACT [] synonym: "neoplasm of extrahepatic bile ducts" EXACT [] synonym: "tumor of the extrahepatic bile duct" EXACT [] xref: EFO:0003891 xref: MESH:D001661 xref: NCI:C4441 is_a: DOID:3117 ! hepatobiliary benign neoplasm is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:0050626 name: gastrointestinal neuroendocrine tumor def: "A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. (DO)" [http://en.wikipedia.org/wiki/Neuroendocrine_tumor "DO", http://www.cancer.gov/dictionary?CdrID=44904 "DO"] synonym: "gastrointestinal neuroendocrine tumour" EXACT [] synonym: "malignant gastrointestinal neuroendocrine tumor" EXACT [] synonym: "malignant gastrointestinal neuroendocrine tumour" EXACT [] is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:0050628 name: advanced sleep phase syndrome def: "A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. (DO)" [http://en.wikipedia.org/wiki/Advanced_sleep_phase_syndrome "DO"] synonym: "circadian rhythm sleep disorders" EXACT [] synonym: "disturbed nyctohemeral rhythm" EXACT [] synonym: "disturbed nyctohemeral rhythms" EXACT [] synonym: "familial advanced sleep-phase syndrome" EXACT [] synonym: "non 24 hour sleep wake disorder" EXACT [] synonym: "nonorganic sleep wake cycle disorders" EXACT [] synonym: "Shift Work Sleep Disorder" EXACT [] synonym: "Shift-Work Sleep Disorders" EXACT [] synonym: "sleep-wake cycle disorder" EXACT [] synonym: "sleep wake cycle disorders" EXACT [] synonym: "sleep-wake schedule disorder" EXACT [] synonym: "sleep wake schedule disorders" EXACT [] xref: MESH:D020178 xref: MIM:PS604348 xref: ORDO:164736 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:535 ! sleep disorder is_a: DOID:9002111 ! Dyssomnias is_a: DOID:9004980 ! Chronobiology Disorders is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:0050629 name: Aicardi-Goutieres syndrome def: "A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO)" [http://omim.org/entry/225750 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1475/ "DO", https://agsaa.org/about-ags "DO"] synonym: "AGS" EXACT [] synonym: "Cree encephalitis" EXACT [] synonym: "encephalopathy with basal ganglia calcification" EXACT [] synonym: "familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" EXACT [] synonym: "pseudotoxoplasmosis syndrome" EXACT [] xref: GARD:575 xref: ICD10CM:G31.8 xref: MESH:C535607 xref: MIM:PS225750 xref: ORDO:51 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0060230 ! basal ganglia calcification is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0050630 name: Aland Island eye disease alt_id: MIM:300600 def: "An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. (DO)" [https://www.omim.org/entry/300600 "DO"] synonym: "AIED" EXACT [] synonym: "Forsius-Eriksson syndrome" EXACT [] synonym: "Forsius-Eriksson type ocular albinism" EXACT [] synonym: "ocular albinism, type II" EXACT [] xref: GARD:10574 xref: MESH:C562664 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:5679 ! retinal disease is_a: DOID:9001386 ! Albinism [Term] id: DOID:0050631 name: Allan-Herndon-Dudley syndrome def: "A syndrome that has_material_basis_in mutation in the MCT8 gene on chromosome Xq13. (DO)" [http://ghr.nlm.nih.gov/condition/allan-herndon-dudley-syndrome "DO", http://omim.org/entry/300523 "DO"] synonym: "AHDS" EXACT [] synonym: "Allan-Herndon syndrome" EXACT [] synonym: "MCT8 (SLC16A2)-specific thyroid hormone cell transporter deficiency" EXACT [] synonym: "mental retardation and muscular atrophy" EXACT [] synonym: "Monocarboxylate Transporter 8 (Mct8) Deficiency" EXACT [] synonym: "Monocarboxylate transporter-8 deficiency" EXACT [] synonym: "T3 resistance" EXACT [] synonym: "triiodothyronine resistance" EXACT [] synonym: "X-linked mental retardation with hypotonia" EXACT [] xref: GARD:5617 xref: MESH:C537047 xref: MIM:300523 xref: MONDO:0010354 xref: NCI:C118843 xref: ORDO:59 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:767 ! muscular atrophy is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0050632 name: oculocutaneous albinism def: "A syndrome characterized by abnormal pigmentation of the skin, hair and eyes. (DO)" [http://en.wikipedia.org/wiki/Oculocutaneous_albinism "DO", http://ghr.nlm.nih.gov/condition/oculocutaneous-albinism "DO"] synonym: "tyrosinase-negative albinism" EXACT [] synonym: "tyrosinase-positive albinism" EXACT [] synonym: "yellow mutant albinism" EXACT [] xref: GARD:10958 xref: MESH:D016115 xref: MIM:PS203100 xref: ORDO:55 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9001386 ! Albinism [Term] id: DOID:0050633 name: ocular albinism 1 alt_id: DOID:9005467 alt_id: MESH:C537863 alt_id: MIM:300500 def: "An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. (DO)" [https://ghr.nlm.nih.gov/condition/ocular-albinism "DO"] synonym: "GPR143-RELATED CONDITION" BROAD [] synonym: "Nettleship-Falls type ocular albinism" EXACT [] synonym: "OA1" EXACT [] synonym: "ocular albinism" EXACT [] synonym: "Ocular Albinism Type 1" EXACT [] synonym: "ocular albinism type I" EXACT [] xref: MESH:D016117 xref: NCI:C118785 is_a: DOID:9001386 ! Albinism [Term] id: DOID:0050634 name: alopecia universalis alt_id: MIM:203655 def: "An alopecia characterized by the complete loss of hair on the scalp and body. (DO)" [https://rarediseases.info.nih.gov/diseases/614/alopecia-universalis "DO"] synonym: "alopecia universalis congenita" EXACT [] synonym: "ALUNC" EXACT [] synonym: "generalized atrichia" EXACT [] xref: GARD:614 xref: MESH:C537055 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:987 ! alopecia [Term] id: DOID:0050635 name: alternating hemiplegia of childhood def: "A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. (DO)" [http://en.wikipedia.org/wiki/Alternating_hemiplegia_of_childhood "DO", http://ghr.nlm.nih.gov/condition/alternating-hemiplegia-of-childhood "DO"] synonym: "AHC" EXACT [] synonym: "alternating hemiplegia" EXACT [] synonym: "alternating hemiplegia syndrome" EXACT [] xref: GARD:11 xref: ICD10CM:G98 xref: MESH:C536589 xref: MIM:PS104290 xref: ORDO:2131 is_a: DOID:10969 ! hemiplegia [Term] id: DOID:0050636 name: familial visceral amyloidosis def: "An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. (DO)" [https://en.wikipedia.org/wiki/Familial_renal_amyloidosis "DO"] synonym: "AFIB AMYLOIDOSIS" NARROW [] synonym: "AMYLD2" NARROW [] synonym: "amyloidosis 8" EXACT [] synonym: "amyloidosis VIII" EXACT [] synonym: "cardiac and cutaneous amyloidosis" NARROW [] synonym: "familial renal amyloidosis" NARROW [] synonym: "German type amyloidosis" EXACT [] synonym: "hereditary systemic amyloidosis-2" NARROW [] synonym: "Ostertag type amyloidosis" EXACT [] synonym: "systemic nonneuropathic amyloidosis" EXACT [] xref: GARD:8282 xref: MESH:C538249 xref: MIM:105200 xref: MONDO:0007099 xref: ORDO:85450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004492 ! Familial Amyloidosis [Term] id: DOID:0050637 name: Finnish type amyloidosis alt_id: MIM:105120 def: "An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. (DO)" [https://rarediseases.info.nih.gov/diseases/2339/familial-amyloidosis-finnish-type "DO"] synonym: "AGel amyloidosis" EXACT [] synonym: "amyloid cranial neuropathy with lattice corneal dystrophy" EXACT [] synonym: "amyloidosis 5" EXACT [] synonym: "amyloidosis due to mutant gelsolin" EXACT [] synonym: "amyloidosis V" EXACT [] synonym: "cerebral amyloid angiopathy, GSN-related" EXACT [] synonym: "CORNEAL DYSTROPHY, LATTICE TYPE II" NARROW [] synonym: "Familial Amyloidosis, Finnish Type" EXACT [] synonym: "Familial Amyloid Polyneuropathy Type Iv" EXACT [] synonym: "Finnish type familial amyloid neuropathy" EXACT [] synonym: "gelsolin amyloidosis" EXACT [] synonym: "gelsolin-related Amyloidosis" EXACT [] synonym: "GSN-RELATED CONDITION" EXACT [] synonym: "Kymenlaakso syndrome" EXACT [] synonym: "lattice corneal dystrophy associated with familial systemic amyloidosis" EXACT [] synonym: "lattice corneal dystrophy, Gelsolin type" EXACT [] synonym: "lattice dystrophy of the cornea with hereditary generalized amyloidosis" EXACT [] synonym: "LCD2" NARROW [] synonym: "Meretoja's syndrome" EXACT [] synonym: "Meretoja syndrome" EXACT [] synonym: "Meretoja type amyloidosis" EXACT [] xref: GARD:2339 xref: MESH:C537459 xref: ORDO:85448 is_a: DOID:0050639 ! primary cutaneous amyloidosis is_a: DOID:8943 ! lattice corneal dystrophy [Term] id: DOID:0050638 name: transthyretin amyloidosis alt_id: DOID:0050761 alt_id: MIM:105210 def: "An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. (DO)" [http://en.wikipedia.org/wiki/Transthyretin-related_hereditary_amyloidosis "DO", http://ghr.nlm.nih.gov/condition/transthyretin-amyloidosis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1194/ "DO", http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=85451 "DO", http://www.paramiloidose.com/en/paramiloidose.php?a=2&id=25 "DO", https://www.ncbi.nlm.nih.gov/books/NBK1194/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/19372706 "DO"] synonym: "amyloid cardiomyopathy, transthyretin-related" NARROW [] synonym: "amyloidogenic transthyretin amyloidosis" EXACT [] synonym: "AMYLOIDOSIS, LEPTOMENINGEAL, TRANSTHYRETIN-RELATED" NARROW [] synonym: "AMYLOID POLYNEUROPATHY, FAMILIAL" NARROW [] synonym: "ATTR amyloidosis" EXACT [] synonym: "ATTRm amyloidosis" EXACT [] synonym: "Corino de Andrade's disease" EXACT [] synonym: "familial transthyretin amyloidosis" EXACT [] synonym: "familial transthyretin cardiac amyloidosis" EXACT [] synonym: "hereditary amyloidosis, transthyretin-related" EXACT [] synonym: "hereditary amyloidosis, transthyretin-related, modifier of" RELATED [] synonym: "leptomeningeal FAP amyloidosis, transthyretin-related" NARROW [] synonym: "paramyloidosis" EXACT [] synonym: "TTR amyloidosis" EXACT [] xref: EFO:0004129 xref: GARD:656 xref: ICD10CM:E85.82 xref: MESH:C567782 xref: ORDO:85447 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:114 ! heart disease is_a: DOID:9001512 ! Familial Amyloid Polyneuropathies [Term] id: DOID:0050639 name: primary cutaneous amyloidosis alt_id: MESH:C562643 def: "An amyloidosis characterized by pruritus, skin scratching and by deposits of amyloid in the dermis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19663869 "DO"] synonym: "Amyloidosis IX" EXACT [] synonym: "familial cutaneous lichen amyloidosis" EXACT [] synonym: "familial lichen amyloidosis" EXACT [] synonym: "familial primary localized cutaneous amyloidosis" EXACT [] synonym: "PCA" EXACT [] synonym: "primary localized cutaneous amyloidosis" EXACT [] xref: GARD:132 xref: MESH:C562642 xref: MIM:PS105250 xref: ORDO:137807 xref: ORDO:353220 is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050640 name: anauxetic dysplasia 1 alt_id: MIM:607095 def: "An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16252239/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK84550/ "DO"] synonym: "ANXD" EXACT [] synonym: "ANXD1" EXACT [] synonym: "Spondylometaepiphyseal dysplasia, Anauxetic type" EXACT [] synonym: "Spondylometaepiphyseal dysplasia, Menger type" EXACT [] xref: GARD:9657 xref: MESH:C538256 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080942 ! anauxetic dysplasia [Term] id: DOID:0050641 name: Rh deficiency syndrome alt_id: MESH:C564833 alt_id: MIM:268150 def: "A hemolytic anemia that is characterized by deficiency of Rh antigens, has_material_basis_in homozygous or compound heterozygous mutation in the RHAG gene on chromosome 6p12. (DO)" [https://rarediseases.info.nih.gov/diseases/12916/rh-deficiency-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/3103426 "DO"] synonym: "RHAG-RELATED CONDITION" BROAD [] synonym: "RHD NEGATIVE" NARROW [] synonym: "RH-mod syndrome" EXACT [] synonym: "RHN" EXACT [] synonym: "Rh-null disease" EXACT [] synonym: "RH-NULL HEMOLYTIC ANEMIA, REGULATOR TYPE" EXACT [] synonym: "Rh-null, regulator type" EXACT [] synonym: "Rh-null syndrome" EXACT [] xref: GARD:12916 xref: MESH:C562717 is_a: DOID:225 ! syndrome is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:0050642 name: hypochromic microcytic anemia def: "A microcytic anemia characterized by paler than normal blood cells. (DO)" [http://en.wikipedia.org/wiki/Hypochromic_anemia "DO"] xref: MESH:C536357 xref: RDO:0001912 is_a: DOID:11252 ! microcytic anemia is_a: DOID:11759 ! hypochromic anemia [Term] id: DOID:0050644 name: arterial calcification of infancy def: "A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. (DO)" [http://en.wikipedia.org/wiki/Idiopathic_infantile_arterial_calcification "DO", http://www.omim.org/entry/208000 "DO"] synonym: "ARTERIOPATHY, OCCLUSIVE INFANTILE CORONARY SCLEROSIS, MEDIAL, OF INFANCY" NARROW [] synonym: "GACI" EXACT [] synonym: "generalized arterial calcification in infancy" EXACT [] synonym: "generalized arterial calcification, of infancy" EXACT [] synonym: "idiopathic infantile arterial calcification" EXACT [] synonym: "IIAC" EXACT [] synonym: "infantile arteriosclerosis" EXACT [] synonym: "occlusive infantile arteriopathy" EXACT [] xref: GARD:8380 xref: MESH:C537440 xref: MIM:PS208000 xref: ORDO:51608 is_a: DOID:0050828 ! artery disease is_a: DOID:9006332 ! Vascular Calcification [Term] id: DOID:0050645 name: arterial tortuosity syndrome alt_id: MIM:208050 def: "A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. (DO)" [http://en.wikipedia.org/wiki/Arterial_tortuosity_syndrome "DO", http://ghr.nlm.nih.gov/condition/arterial-tortuosity-syndrome "DO"] synonym: "arterial tortuosity" EXACT [] synonym: "ATS" EXACT [] xref: GARD:774 xref: MESH:C565942 is_a: DOID:225 ! syndrome is_a: DOID:65 ! connective tissue disease is_a: DOID:9003191 ! Vascular Malformations is_a: DOID:9005077 ! Joint Instability is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050646 name: distal arthrogryposis def: "A muscle tissue disease characterized by congenital joint contractures of hand and feet. (DO)" [http://en.wikipedia.org/wiki/Arthrogryposis "DO"] synonym: "DISTAL ARTHROGRYPOSIS AND CNS INVOLVEMENT" NARROW [] synonym: "distal arthrogryposis multiplex congenita" EXACT [] xref: GARD:786 xref: MIM:PS108120 xref: ORDO:1147 xref: ORDO:97120 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:66 ! muscle tissue disease created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050647 name: Arts syndrome alt_id: MIM:301835 def: "An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (DO)" [http://ghr.nlm.nih.gov/condition/arts-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK2591/ "DO", http://www.omim.org/entry/301835 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=1187&lng=EN "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301738 "DO"] synonym: "ARTS" EXACT [] synonym: "fatal X-linked ataxia with deafness and loss of vision" EXACT [] synonym: "lethal ataxia-deafness-optic atrophy" EXACT [] synonym: "lethal ataxia with deafness and optic atrophy" EXACT [] synonym: "MRXS18" EXACT [] synonym: "MRXSARTS" EXACT [] synonym: "syndromic X-linked mental retardation 18" EXACT [] synonym: "syndromic X-linked mental retardation Arts type" EXACT [] xref: GARD:8756 xref: MESH:C535388 xref: ORDO:1187 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9004866 ! Ataxia is_a: DOID:9005165 ! Deaf-Blind Disorders [Term] id: DOID:0050648 name: atelosteogenesis def: "An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. (DO)" [https://link.springer.com/chapter/10.1007/978-1-60327-161-5_17 "DO", https://rarediseases.info.nih.gov/diseases/9287/atelosteogenesis-type-1 "DO"] xref: MIM:PS108720 is_a: DOID:0060564 ! spinal disease is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050649 name: atransferrinemia alt_id: MIM:209300 def: "A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. (DO)" [https://en.wikipedia.org/wiki/Atransferrinemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/29969719 "DO", https://www.omim.org/entry/209300 "DO"] synonym: "Congenital Atransferrinemia" EXACT [] synonym: "Familial hypotransferrinemia" EXACT [] synonym: "TRANSFERRIN VARIANT CHI" RELATED [] xref: GARD:9595 xref: MESH:C538259 xref: NCI:C125693 xref: ORDO:1195 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0050650 name: familial atrial fibrillation def: "An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. (DO)" [http://en.wikipedia.org/wiki/Familial_atrial_fibrillation "DO"] synonym: "ATFB" EXACT [] synonym: "familial atrial fibrillations" EXACT [] xref: GARD:9740 xref: MIM:PS608583 xref: ORDO:334 is_a: DOID:0060224 ! atrial fibrillation created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050651 name: atrioventricular septal defect alt_id: MIM:606215 def: "A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. (DO)" [http://en.wikipedia.org/wiki/Atrioventricular_septal_defect "DO", http://www.cdc.gov/ncbddd/heartdefects/avsd.html "DO"] synonym: "Atrioventricular Canal Defect" EXACT [] synonym: "atrioventricular septal defect, somatic" NARROW [] synonym: "atrioventricular septal defect, susceptibility to, 1" NARROW [] synonym: "AVCD" EXACT [] synonym: "AVC defect" EXACT [] synonym: "AVSD" EXACT [] synonym: "AVSD1" NARROW [] synonym: "ECD" EXACT [] synonym: "endocardial cushion defect" EXACT [] xref: GARD:802 xref: ICD10CM:Q21.2 xref: ICD9CM:745.6 xref: MESH:C562831 xref: MIM:PS606215 xref: NCI:C101029 xref: ORDO:98722 is_a: DOID:1657 ! ventricular septal defect is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0050654 name: Baller-Gerold syndrome alt_id: MIM:218600 def: "A synostosis characterized by coronal craniosynostosis, short stature, and aplasia or hypoplasia of the radial bone. (DO)" [http://en.wikipedia.org/wiki/Baller%E2%80%93Gerold_syndrome "DO", http://ghr.nlm.nih.gov/condition/baller-gerold-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK1204/ "DO"] synonym: "BGS" EXACT [] synonym: "craniosynostosis-radial aplasia syndrome" EXACT [] synonym: "craniosynostosis with radial defects" EXACT [] xref: GARD:1602 xref: MESH:C536788 xref: ORDO:1223 is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:0050655 name: Bamforth-Lazarus syndrome alt_id: MIM:241850 def: "A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. (DO)" [https://rarediseases.info.nih.gov/diseases/414/bamforth-syndrome "DO"] synonym: "athyroidal hypothyroidism with spiky hair and cleft palate" EXACT [] synonym: "Bamforth syndrome" EXACT [] synonym: "BAMLAZ" EXACT [] synonym: "Hypothyroidism cleft palate" EXACT [] synonym: "hypothyroidism, thyroidal or athyroidal, with spiky hair and cleft palate" EXACT [] synonym: "thyroidal hypothyroidism with spiky hair and cleft palate" EXACT [] xref: MESH:C537901 is_a: DOID:1459 ! hypothyroidism is_a: DOID:421 ! hair disease is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050656 name: pseudo-TORCH syndrome 1 alt_id: MESH:C537905 def: "A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20727516 "DO"] synonym: "band-like calcification with simplified gyration and polymicrogyria" EXACT [] synonym: "Baraitser-Brett-Piesowicz syndrome" EXACT [] synonym: "Baraitser-Reardon syndrome" EXACT [] synonym: "bilateral band-like calcification with polymicrogyria" EXACT [] synonym: "BLC-PMG" EXACT [] synonym: "BLCPMG" EXACT [] synonym: "Microcephaly intracranial calcification" EXACT [] synonym: "microcephaly-intracranial calcification-intellectual disability syndrome" EXACT [] synonym: "PTORCH1" EXACT [] xref: GARD:12426 xref: MIM:251290 xref: ORDO:1229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:9002061 ! Pseudo-TORCH Syndrome [Term] id: DOID:0050657 name: Bannayan-Riley-Ruvalcaba syndrome def: "A Cowden syndrome that is characterized by macrocephaly, multiple noncancerous tumors and hamartomas, and dark freckles on the penis, and has_material_basis_in heterozygous germline mutation in the PTEN gene on chromosome 10q23. (DO)" [https://en.wikipedia.org/wiki/Bannayan%E2%80%93Riley%E2%80%93Ruvalcaba_syndrome "DO", https://ghr.nlm.nih.gov/condition/bannayan-riley-ruvalcaba-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/31062505 "DO"] synonym: "Bannayan-Zonana syndrome" EXACT [] synonym: "BRRS" EXACT [] synonym: "BZS" EXACT [] synonym: "Cowden syndrome 1" EXACT [] synonym: "CWS1" EXACT [] synonym: "macrocephaly, multiple lipomas and hemangiomata" EXACT [] synonym: "macrocephaly, pseudopapilledema and multiple hemangiomas" EXACT [] synonym: "macrocephaly, pseudopapilledema, and multiple hemangiomata" EXACT [] synonym: "Riley-Smith syndrome" EXACT [] synonym: "RMSS" EXACT [] synonym: "Ruvalcaba Myhre Smith syndrome" EXACT [] xref: GARD:5887 xref: MIM:158350 xref: NCI:C3939 xref: ORDO:109 is_a: DOID:255 ! hemangioma is_a: DOID:6457 ! Cowden syndrome is_a: DOID:9003816 ! Macrocephaly created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0050658 name: Bart-Pumphrey syndrome alt_id: MIM:149200 def: "A syndrome that is characterized by leukonychia, wart-like skin growths, palmoplantar keratoderma and hearing loss, has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12. (DO)" [https://ghr.nlm.nih.gov/condition/bart-pumphrey-syndrome "DO"] synonym: "BAPS" EXACT [] synonym: "knuckle pads, leukonychia, and sensorineural deafness" EXACT [] synonym: "knuckle pads, leukonychia, deafness, and keratosis palmoplantaris" EXACT [] xref: MESH:C537210 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050659 name: biotin-responsive basal ganglia disease def: "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia. (DO)" [https://ghr.nlm.nih.gov/condition/biotin-thiamine-responsive-basal-ganglia-disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK169615/ "DO"] synonym: "BBGD" EXACT [] synonym: "BBTGD" EXACT [] synonym: "biotin ganglia disease, biotin-thiamine responsive" EXACT [] synonym: "biotin-thiamine-responsive basal ganglia disease" EXACT [] synonym: "BTBGD" EXACT [] synonym: "ENCEPHALOPATHY, THIAMINE-RESPONSIVE" EXACT [] synonym: "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)" EXACT [] synonym: "THMD2" EXACT [] xref: MESH:C537658 xref: MIM:607483 xref: MONDO:0011841 is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:0050660 name: Beare-Stevenson cutis gyrata syndrome alt_id: MIM:123790 def: "A syndrome that is characterized by cutis gyrata, acanthosis nigricans and craniosynostosis, has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO)" [https://rarediseases.info.nih.gov/diseases/332/beare-stevenson-cutis-gyrata-syndrome "DO"] synonym: "Beare-Stevenson syndrome" EXACT [] synonym: "BSTVS" EXACT [] synonym: "cutis gyrata syndrome of Beare and Stevenson" EXACT [] synonym: "cutis gyrata syndrome of Beare-Stevenson" EXACT [] xref: GARD:332 xref: MESH:C565129 xref: NCI:C123813 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:3136 ! scalp dermatosis is_a: DOID:3138 ! acanthosis nigricans is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:0050661 name: vitelliform macular dystrophy def: "A macular degeneration that it is characterized by the disruption of cells in a small area near the center of the retina, the macula and may cause progressive vision loss. (DO)" [http://en.wikipedia.org/wiki/Vitelliform_macular_dystrophy "DO", http://ghr.nlm.nih.gov/condition/vitelliform-macular-dystrophy "DO"] synonym: "vitelliform dystrophy" EXACT [] synonym: "vitelliform macular dystrophies" EXACT [] xref: GARD:10120 xref: MESH:D057826 xref: MIM:PS153840 xref: NCI:C118788 xref: ORDO:1243 xref: ORDO:99000 is_a: DOID:4448 ! macular degeneration is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050662 name: bestrophinopathy def: "A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24859690 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25545482 "DO", https://www.omim.org/entry/611809 "DO"] synonym: "ARB" EXACT [] synonym: "autosomal recessive bestrophinopathy" EXACT [] synonym: "Multifocal retinopathy 1" NARROW [] synonym: "Multifocal retinopathy 2" NARROW [] synonym: "Multifocal retinopathy 3" NARROW [] xref: GARD:10301 xref: MESH:C567518 xref: MIM:611809 xref: MONDO:0012733 xref: OMIA:001444 xref: OMIA:001553 xref: OMIA:001554 xref: ORDO:139455 is_a: DOID:4448 ! macular degeneration is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050663 name: Bethlem myopathy def: "A congenital muscular dystrophy that is characterized by myopathy and joint contractures that progresses slowly, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the COL6A1 gene, the COL6A2 gene, or the COL6A3 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/873/bethlem-myopathy "DO"] synonym: "Benign Congenital Muscular Dystrophy" EXACT [] synonym: "Benign Congenital Myopathy with Contractures" EXACT [] synonym: "BETHLEM MYOPATHY, AUTOSOMAL RECESSIVE" NARROW [] xref: GARD:873 xref: MESH:C535436 xref: MIM:PS158810 is_a: DOID:9006836 ! Contracture is_a: DOID:9007913 ! Collagen VI-related Myopathy [Term] id: DOID:0050664 name: Bietti crystalline corneoretinal dystrophy alt_id: MIM:210370 def: "A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35. (DO)" [https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy "DO"] synonym: "BCD" EXACT [] synonym: "Bietti's crystalline corneoretinal dystrophy" EXACT [] synonym: "Bietti's crystalline dystrophy" EXACT [] synonym: "Bietti Crystalline Dystrophy" EXACT [] synonym: "Bietti Crystalline Retinopathy" EXACT [] synonym: "Bietti tapetoretinal degeneration with marginal corneal dystrophy" EXACT [] synonym: "CYP4V2-related disorder" EXACT [] xref: GARD:10050 xref: MESH:C535440 xref: NCI:C179299 is_a: DOID:2566 ! corneal dystrophy is_a: DOID:5679 ! retinal disease is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0050665 name: fetal alcohol syndrome def: "A fetal alcohol spectrum disorder that results in severe mental and physical defects which can develop in a child when the mother drinks alcohol during pregnancy. The presenting features include craniofacial dysmorphology (microcephaly, smooth philtrum, thin upper lip, small eye openings), pre- and postnatal growth deficiency, and central nervous system dysfunction. (DO)" [http://en.wikipedia.org/wiki/Fetal_alcohol_syndrome "DO", http://www.cdc.gov/ncbddd/fasd/facts.html "DO"] xref: ICD10CM:Q86.0 xref: MONDO:0016011 xref: NCI:C84713 xref: ORDO:1915 is_a: DOID:0050696 ! fetal alcohol spectrum disorder is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050666 name: partial fetal alcohol syndrome def: "A fetal alcohol spectrum disorder that results in most, but not all, of the growth deficiency and/or craniofacial features of fetal alcohol syndrome including central nervous system dysfunction due to prenatal alcohol exposure. (DO)" [http://depts.washington.edu/fasdpn/htmls/fasd-fas.htm "DO", http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder "DO"] is_a: DOID:0050696 ! fetal alcohol spectrum disorder is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050667 name: alcohol-related neurodevelopmental disorder def: "A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. (DO)" [http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder "DO"] synonym: "ARND" EXACT [] synonym: "static encephalopathy" EXACT [] is_a: DOID:0050696 ! fetal alcohol spectrum disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050668 name: alcohol-related birth defects def: "A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. (DO)" [http://www.cdc.gov/ncbddd/fasd/facts.html "DO"] synonym: "alcohol fetopathy" EXACT [] synonym: "alcohol-related birth defect" EXACT [] synonym: "ARBD" EXACT [] xref: MESH:C576203 is_a: DOID:0050696 ! fetal alcohol spectrum disorder [Term] id: DOID:0050669 name: spastic cerebral palsy def: "A cerebral palsy that is caused by damage in the outer layer of the brain, the cerebral cortex, which results in increased tone, or tension, in a muscle causing abnormal movements. (DO)" [http://www.cerebralpalsysource.com/Types_of_CP/spastic_cp/index.html "DO"] synonym: "spastic cerebral palsies" EXACT [] is_a: DOID:1969 ! cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050670 name: ataxic cerebral palsy def: "A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. (DO)" [http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic "DO", http://www.brainandspinalcord.org/cerebral-palsy/types/ataxic-cerebral-palsy.html "DO"] synonym: "ACP" EXACT [] synonym: "ataxic cerebral palsy, autosomal recessive" EXACT [] synonym: "hypotonic cerebral palsy" EXACT [] xref: GARD:10451 xref: MESH:C562856 xref: MIM:605388 xref: MONDO:0000397 is_a: DOID:1969 ! cerebral palsy is_a: DOID:630 ! genetic disease is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0050671 name: female breast cancer def: "A breast cancer that develops from breast tissue in females. (DO)" [https://en.wikipedia.org/wiki/Breast_cancer "DO", https://www.ncbi.nlm.nih.gov/pubmed/24703317 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25002350 "DO"] is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0050672 name: dyskinetic cerebral palsy def: "A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. (DO)" [http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic "DO"] synonym: "athetoid dyskinetic cerebral palsy" EXACT [] synonym: "dyskinetic cerebral palsies" EXACT [] xref: RDO:9003331 is_a: DOID:1969 ! cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050673 name: mixed cerebral palsy def: "A cerebral palsy that is caused by injury to both the pyramidal and extra pyramidal areas of the brain, which results in both the tight muscle tone and the involuntary movements. The individual have difficulty with speaking and swallowing. (DO)" [http://www.brainandspinalcord.org/cerebral-palsy/types/mixed-cerebral-palsy "DO", http://www.cerebralpalsysource.com/Types_of_CP/mixed_cp/index.html "DO"] synonym: "mixed cerebral palsies" EXACT [] is_a: DOID:1969 ! cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050674 name: congenital bile acid synthesis defect def: "A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. (DO)" [https://rarediseases.org/rare-diseases/bile-acid-synthesis-disorders/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/12543708 "DO"] synonym: "CBA" EXACT [] synonym: "cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency" EXACT [] xref: EFO:0009039 xref: ICD10CM:K76.8 xref: MIM:PS607765 xref: ORDO:485631 is_a: DOID:0080015 ! physical disorder is_a: DOID:13580 ! cholestasis is_a: DOID:1701 ! steroid inherited metabolic disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050675 name: Birk-Barel syndrome alt_id: MIM:612292 def: "A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. (DO)" [https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy "DO"] synonym: "BIBARS" EXACT [] synonym: "Birk-Barel intellectual disability dysmorphism syndrome" EXACT [] synonym: "Birk-Barel mental retardation dysmorphism syndrome" EXACT [] synonym: "mental retardation with hypotonia and facial dysmorphism" EXACT [] xref: GARD:10358 xref: MESH:C567357 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0050676 name: Birt-Hogg-Dube syndrome def: "A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. (DO)" [https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ "DO"] synonym: "BHD" EXACT [] synonym: "BHD1" NARROW [] synonym: "BHD2" NARROW [] synonym: "Birt-Hogg-Dube syndrome 1" NARROW [] synonym: "Birt-Hogg-Dube syndrome 2" NARROW [] synonym: "Birt-Hogg-Dubé syndrome" EXACT [] synonym: "fibrofolliculomas with trichodiscomas and acrochordons" EXACT [] synonym: "Hornstein-Birt-Hogg-Dubé syndrome" EXACT [] synonym: "Hornstein-Knickenberg syndrome" EXACT [] synonym: "renal cystadenocarcinoma and nodular dermatofibrosis" EXACT [] xref: EFO:0700020 xref: EFO:1001273 xref: GARD:2322 xref: MESH:D058249 xref: MIM:135150 xref: MIM:620459 xref: MONDO:0007607 xref: MONDO:0800444 xref: NCI:C28244 xref: OMIA:001335 xref: ORDO:122 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:37 ! skin disease is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0050677 name: Bjornstad syndrome alt_id: MIM:262000 def: "A syndrome that is characterized by early onset of hearing loss and hair loss due to pili torti, has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)" [https://rarediseases.org/rare-diseases/birt-hogg-dube-syndrome/ "DO"] synonym: "BCS1L-related disorder" BROAD [] synonym: "BJORNSTAD SYNDROME WITH MILD MITOCHONDRIAL COMPLEX III DEFICIENCY" NARROW [] synonym: "BJS" EXACT [] synonym: "deafness and pili torti, Bjornstad type" EXACT [] synonym: "deafness-pili torti-hypogonadism syndrome" EXACT [] synonym: "pili torti and nerve deafness" EXACT [] synonym: "pili torti-deafness syndrome" EXACT [] synonym: "pili torti-sensorineural hearing loss" EXACT [] synonym: "PTD" EXACT [] xref: GARD:22 xref: MESH:C537633 xref: ORDO:123 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0050678 name: Blau syndrome alt_id: MIM:186580 def: "A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. (DO)" [http://en.wikipedia.org/wiki/Blau_syndrome "DO", http://www.omim.org/entry/186580?search=186580&highlight=186580 "DO"] synonym: "ACUG" EXACT [] synonym: "arthrocutaneouveal granulomatosis" EXACT [] synonym: "BLAUS" EXACT [] synonym: "familial granulomatosis, Blau type" EXACT [] synonym: "Familial Juvenile Systemic Granulomatosis" EXACT [] synonym: "Granulomatous inflammatory arthritis, dermatitis, and uveitis, familial" EXACT [] synonym: "Jabs syndrome" EXACT [] synonym: "pediatric granulomatous arthritis" EXACT [] synonym: "synovitis granulomatous with uveitis and cranial neuropathies" EXACT [] xref: GARD:304 xref: MESH:C538157 xref: NCI:C116794 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13141 ! uveitis is_a: DOID:2703 ! synovitis is_a: DOID:848 ! arthritis is_a: DOID:9002517 ! Early-Onset Sarcoidosis [Term] id: DOID:0050679 name: blue cone monochromacy def: "An achromatopsia that is characterized by severely impaired color discrimination, low visual acuity, nystagmus, photophobia due to the absence of functional long wavelength-sensitive and medium wavelength-sensitive cones in the retina and has_material_basis_in alteration in the red (OPN1LW) and green (OPN1MW) visual pigment gene cluster on chromosome Xq28 or in the locus control region for the red and green pigment genes, located adjacent to and 5-prime of the pigment gene cluster. (DO)" [http://omim.org/entry/303700 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=16 "DO"] synonym: "BCM" EXACT [] synonym: "blue cone monochromatism" EXACT [] synonym: "CBBM CONE DYSTROPHY 5, X-LINKED" NARROW [] synonym: "COD5" NARROW [] synonym: "color blindness blue mono cone monochromatic type" EXACT [] synonym: "cone dystrophy 5, X-linked" RELATED [] xref: GARD:917 xref: MESH:C536238 xref: MIM:303700 xref: MONDO:0010563 xref: ORDO:15 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0050680 name: Boomerang dysplasia alt_id: MIM:112310 def: "An osteochondrodysplasia that is characterized by severe dwarfism, dislocated joints, club feet, distinctive facies and dysplastic tubular bones with boomerang-like bowing, has_material_basis_in heterozygous mutation in the FLNB gene on chromosome 3p14. (DO)" [https://rarediseases.info.nih.gov/diseases/933/boomerang-dysplasia "DO"] synonym: "Boomerang-like skeletal dysplasia" EXACT [] synonym: "Dwarfism with short, bowed, rigid limbs and characteristic facies" EXACT [] synonym: "FLNB-related spectrum disorder" BROAD [] synonym: "Piepkorn dysplasia" EXACT [] xref: GARD:933 xref: MESH:C536573 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0050681 name: Borjeson-Forssman-Lehmann syndrome alt_id: MIM:301900 def: "An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. (DO)" [http://rarediseases.info.nih.gov/gard/936/borjeson-forssman-lehmann-syndrome/resources/1 "DO", http://www.nature.com/ejhg/journal/v14/n12/full/5201639a.html "DO"] synonym: "BFLS" EXACT [] synonym: "BORJ" EXACT [] synonym: "Borjeson syndrome" EXACT [] synonym: "intellectual deficiency-epilepsy-endocrine disorders syndrome" EXACT [] synonym: "mental deficiency, epilepsy and endocrine disorders" EXACT [] synonym: "mental retardation, epilepsy, and endocrine disorder" EXACT [] synonym: "mental retardation, epilepsy, and endocrine disorders" EXACT [] synonym: "MRXSBFL" EXACT [] synonym: "syndromic X-linked mental retardation, Borjeson-Forssman-Lehmann type" EXACT [] xref: GARD:936 xref: MESH:C536575 xref: NCI:C157122 xref: ORDO:127 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1826 ! epilepsy is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9970 ! obesity [Term] id: DOID:0050682 name: Athabaskan brainstem dysgenesis syndrome alt_id: MIM:601536 def: "A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18412118 "DO", https://www.omim.org/entry/601536 "DO"] synonym: "ABDS" EXACT [] synonym: "Athabaskan brainstem dysgenesis" EXACT [] synonym: "Bosley-Salih-Alorainy syndrome" RELATED [] synonym: "BSAS" RELATED [] synonym: "HOXA1-RELATED CONDITION" EXACT [] synonym: "Navajo brainstem syndrome" EXACT [] xref: MESH:C535397 xref: ORDO:69739 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1279 ! ocular motility disease is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:936 ! brain disease [Term] id: DOID:0050683 name: Bothnia retinal dystrophy def: "A fundus dystrophy that is characterized by early onset of night blindness and decreased visual acuity that progresses to blindness in early adulthood, has_material_basis_in mutation in RLBP1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11176989 "DO", https://www.omim.org/entry/607475 "DO"] synonym: "Vasterbotten dystrophy" EXACT [] xref: MESH:C564392 xref: MIM:607475 xref: MONDO:0011838 is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0050684 name: Bowen-Conradi syndrome alt_id: MIM:211180 def: "A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19463982 "DO", https://www.omim.org/entry/211180 "DO"] synonym: "Bowen-Conradi Hutterite syndrome" EXACT [] synonym: "Bowen Hutterite syndrome" EXACT [] synonym: "BWCNS" EXACT [] xref: GARD:5950 xref: MESH:C537081 xref: ORDO:1270 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050685 name: small cell carcinoma alt_id: MIM:182280 def: "A carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO)" [http://en.wikipedia.org/wiki/Small_cell_carcinoma "DO"] synonym: "EFO:0008524" EXACT [] synonym: "oat cell carcinoma" EXACT [] synonym: "oat cell carcinomas" EXACT [] synonym: "Salivary Gland Small Cell Carcinoma" NARROW [] synonym: "SCCL" EXACT [] synonym: "SCLC" EXACT [] synonym: "SCLC1" EXACT [] synonym: "small cell carcinoma, intermediate cell" EXACT [] synonym: "small cell carcinomas" EXACT [] xref: EFO:0008524 xref: EFO:1000519 xref: ICDO:8041/3 xref: MESH:D018288 xref: NCI:C4099 is_a: DOID:305 ! carcinoma [Term] id: DOID:0050686 name: organ system cancer def: "A cancer that is classified based on the organ it starts in. (DO)" [https://www.cancer.gov/types/by-body-location "DO"] is_a: DOID:162 ! cancer is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:0050687 name: cell type cancer def: "A cancer that is classified by the type of cell from which it is derived. (DO)" [http://en.wikipedia.org/wiki/Cancer "DO"] synonym: "cancer by histologic type" EXACT [] is_a: DOID:162 ! cancer is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:0050688 name: anal canal cancer def: "A large intestine cancer that is located_in the terminal part of the large intestine. (DO)" [http://en.wikipedia.org/wiki/Anal_canal "DO"] is_a: DOID:14110 ! anus cancer is_a: DOID:5672 ! large intestine cancer created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:0050689 name: brachydactyly-syndactyly syndrome alt_id: MIM:610713 def: "A syndrome that is characterized by brachydactyly and syndactyly, has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17236141 "DO", https://www.omim.org/entry/610713 "DO"] synonym: "BDSD" EXACT [] synonym: "BDSDO" NARROW [] synonym: "brachydactyly-syndactyly-oligodactyly syndrome" NARROW [] xref: MESH:C565193 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome [Term] id: DOID:0050690 name: brachyolmia alt_id: DOID:9008880 def: "An osteochondrodysplasia characterized by generalized platyspondyly without significant long bone abnormalities and short stature. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10968486 "DO"] synonym: "brachyrachia" EXACT [] xref: GARD:10903 xref: MESH:C537098 xref: ORDO:1293 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0050691 name: branchiooculofacial syndrome def: "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts. (DO)" [http://ghr.nlm.nih.gov/condition/branchio-oculo-facial-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK55063/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1297 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/714/viewAbstract "DO"] synonym: "BOFS" EXACT [] synonym: "BOF syndrome" EXACT [] synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging" EXACT [] synonym: "branchio oculo facial syndrome" EXACT [] synonym: "hemangiomatous branchial clefts lip pseudocleft syndrome" EXACT [] synonym: "lip pseudocleft hemangiomatous branchial cyst syndrome" EXACT [] synonym: "TFAP2A-RELATED CONDITION" EXACT [] xref: GARD:3212 xref: MIM:113620 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0050692 name: Brody myopathy alt_id: MIM:601003 def: "A neuromuscular disease is characterized by difficulty relaxing muscles and muscle stiffness following exercise or other strenuous activity and is located in skeletal muscles. (DO)" [https://ghr.nlm.nih.gov/condition/brody-myopathy "DO", https://rarediseases.info.nih.gov/gard/9158/brody-myopathy/case/23360/case-questions "DO"] synonym: "autosomal recessive Brody myopathy" EXACT [] synonym: "Brody disease" EXACT [] xref: GARD:9158 xref: MESH:C536607 is_a: DOID:913 ! atrophic muscular disease [Term] id: DOID:0050693 name: Brooke-Spiegler syndrome def: "A skin disease that is characterized by the development of several types of tumors from the skin, has_material_basis_in heterozygous mutation in the CYLD gene on chromosome 16q12. (DO)" [https://rarediseases.info.nih.gov/diseases/10179/brooke-spiegler-syndrome "DO"] synonym: "Ancell-Spiegler cylindromas" EXACT [] synonym: "Brooke-Fordyce trichoepitheliomas" EXACT [] synonym: "BRSS" EXACT [] synonym: "BSS" EXACT [] synonym: "CYLD cutaneous syndrome" EXACT [] synonym: "dermal eccrine cylindroma" EXACT [] synonym: "dermal eccrine cylindromas" EXACT [] synonym: "EAC" EXACT [] synonym: "epithelioma adenoides cysticum of Brooke" EXACT [] synonym: "familial cylindromatosis" EXACT [] synonym: "FAMILIAL MULTIPLE TRICHOEPITHELIOMATA" EXACT [] synonym: "familial trichoepithelioma" EXACT [] synonym: "hereditary multiple benign cystic epithelioma" EXACT [] synonym: "MFT1" EXACT [] synonym: "multiple familial trichoepithelioma" EXACT [] synonym: "multiple familial trichoepithelioma 1" EXACT [] synonym: "SBS" EXACT [] synonym: "Turban tumors" EXACT [] synonym: "Turban tumor syndrome" EXACT [] xref: GARD:10179 xref: MESH:C536611 xref: MIM:132700 xref: MIM:601606 xref: MIM:605041 xref: MONDO:0007565 xref: ORDO:79493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0050694 name: Brown-Vialetto-Van Laere syndrome def: "A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21110228 "DO"] synonym: "pontobulbar palsy and neurosensory deafness" EXACT [] synonym: "pontobulbar palsy with deafness" EXACT [] synonym: "progressive bulbar palsy with sensorineural deafness" EXACT [] xref: MESH:C537111 xref: MIM:PS211530 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:681 ! progressive bulbar palsy [Term] id: DOID:0050695 name: malignant pleural solitary fibrous tumor def: "A pleural cancer that is located_in mesenchymal cells in the areolar tissue subjacent to the mesothelial-lined pleura. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17075563 "DO"] is_a: DOID:5158 ! pleural cancer [Term] id: DOID:0050696 name: fetal alcohol spectrum disorder def: "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy. (DO)" [http://en.wikipedia.org/wiki/Fetal_alcohol_spectrum_disorder "DO", http://www.cdc.gov/ncbddd/fasd/facts.html "DO"] synonym: "alcohol related birth defects" EXACT [] synonym: "FAE (Fetal Alcohol Effects)" EXACT [] synonym: "FASD" EXACT [] synonym: "fetal alcohol syndrome" EXACT [] synonym: "Growth Retardation, Facial Abnormalities, and Central Nervous System Dysfunction" EXACT [] xref: MESH:D063647 xref: MONDO:0000408 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:251 ! alcohol-induced mental disorder is_a: DOID:9001984 ! Fetal Diseases [Term] id: DOID:0050697 name: chorioamnionitis def: "A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. (DO)" [http://en.wikipedia.org/wiki/Chorioamnionitis "DO", http://www.merriam-webster.com/medlineplus/Chorioamnionitis "DO"] synonym: "amnionitides" EXACT [] synonym: "amnionitis" EXACT [] synonym: "chorioamnionitides" EXACT [] xref: EFO:0009948 xref: MESH:D002821 is_a: DOID:780 ! placenta disease is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9005304 ! Fetal Membranes, Premature Rupture [Term] id: DOID:0050698 name: funisitis def: "A connective tissue disease that is an inflammation of the connective tissue of the umbilical cord. (DO)" [http://en.wikipedia.org/wiki/Funisitis "DO"] synonym: "funisitides" EXACT [] is_a: DOID:0050697 ! chorioamnionitis is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050699 name: Dent disease def: "A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure. (DO)" [http://en.wikipedia.org/wiki/Dent%27s_disease "DO", http://ghr.nlm.nih.gov/condition/dent-disease "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1652 "DO", https://www.dentdisease.org/ "DO"] synonym: "Dent's disease" EXACT [] synonym: "Dents disease" EXACT [] synonym: "X-linked hypercalciuric nephrocalcinosis" EXACT [] xref: GARD:13105 xref: MESH:D057973 xref: MIM:PS300009 xref: NCI:C123260 xref: ORDO:1652 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:447 ! renal tubular transport disease is_a: DOID:585 ! nephrolithiasis [Term] id: DOID:0050700 name: cardiomyopathy def: "A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (DO)" [http://en.wikipedia.org/wiki/Cardiomyopathy "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "DO"] synonym: "cardiomyopathies" EXACT [] synonym: "cardiomyopathy with or without skeletal myopathy" EXACT [] synonym: "Familial Cardiomyopathy" NARROW [] synonym: "HYPOKINETIC NON-DILATED CARDIOMYOPATHY" NARROW [] synonym: "idiopathic cardiomyopathy" NARROW [] synonym: "Myocardial Disease" EXACT [] synonym: "Myocardial Diseases" EXACT [] synonym: "Myocardiopathies" EXACT [] synonym: "Myocardiopathy" EXACT [] synonym: "PERSONAL AND/OR FAMILY HISTORY OF CARDIOMYOPATHY" RELATED [] synonym: "Primary Cardiomyopathies" EXACT [] synonym: "Primary Cardiomyopathy" EXACT [] synonym: "Primary Myocardial Disease" EXACT [] synonym: "Primary Myocardial Diseases" EXACT [] synonym: "PRKAG2 Cardiac Syndrome" NARROW [] synonym: "Secondary Cardiomyopathies" EXACT [] synonym: "Secondary Cardiomyopathy" EXACT [] synonym: "secondary myocardial disease" EXACT [] synonym: "secondary myocardial diseases" EXACT [] synonym: "TXNRD2-ASSOCIATED CARDIOMYOPATHY" NARROW [] synonym: "viral cardiomyopathy" NARROW [] xref: EFO:0000318 xref: EFO:0000767 xref: EFO:0002629 xref: EFO:0002945 xref: ICD10CM:I42 xref: ICD9CM:425 xref: ICD9CM:425.9 xref: MESH:D009202 xref: NCI:C34830 xref: NCI:C53654 is_a: DOID:114 ! heart disease [Term] id: DOID:0050701 name: electroclinical syndrome def: "An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. (DO)" [http://www.ice-epilepsy.org/new-ice-terminology-from-ilae.html "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/table/T1/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"] synonym: "electro-clinical syndrome" EXACT [] synonym: "TRIM8-RELATED EPILEPTIC ENCEPHALOPATHY" NARROW [] is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050702 name: neonatal period electroclinical syndrome def: "An electroclinical syndrome with onset in the neonatal period less than 44 weeks of gestational age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22182677 "DO"] is_a: DOID:0050701 ! electroclinical syndrome created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050703 name: infancy electroclinical syndrome def: "An electroclinical syndrome with onset in infancy occurring between birth and one year of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"] is_a: DOID:0050701 ! electroclinical syndrome is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050704 name: childhood electroclinical syndrome alt_id: RDO:9002706 def: "An electroclinical syndrome with onset in childhood between one and 12 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"] xref: RDO:9002463 is_a: DOID:0070309 ! absence epilepsy created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050705 name: adolescence-adult electroclinical syndrome def: "An electroclinical syndrome with onset in adolescence and adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20196795 "DO"] xref: RDO:9002464 is_a: DOID:0070309 ! absence epilepsy created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050706 name: variable age at onset electroclinical syndrome alt_id: RDO:9002465 def: "An electroclinial syndrome that is characterized by development of seizures later in life with a variable age of onset and duration. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3267655/ "DO"] xref: RDO:9002709 is_a: DOID:0050701 ! electroclinical syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050708 name: early onset absence epilepsy def: "A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24099057 "DO"] is_a: DOID:0050704 ! childhood electroclinical syndrome created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0050709 name: early infantile epileptic encephalopathy alt_id: DOID:2481 def: "A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. (DO)" [http://en.wikipedia.org/wiki/Ohtahara_syndrome "DO", http://www.ninds.nih.gov/disorders/ohtahara/ohtahara.htm "DO"] synonym: "DEVELOPMENTAL ENCEPHALOPATHY WITH EPILEPSY" EXACT [] synonym: "early infantile epileptic encephalopathy with burst-suppression" EXACT [] xref: EFO:1000643 xref: GARD:9255 xref: NCI:C122814 xref: ORDO:1934 is_a: DOID:0050702 ! neonatal period electroclinical syndrome created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050710 name: 3-methylcrotonyl-CoA carboxylase deficiency def: "An amino acid metabolic disorder that is classified by inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. (DO)" [http://en.wikipedia.org/wiki/3-Methylcrotonyl-CoA_carboxylase_deficiency "DO", http://omim.org/entry/210200 "DO"] synonym: "3-MCC deficiency" EXACT [] synonym: "3MCC deficiency" EXACT [] synonym: "3-methylcrotonyl-Coenzyme A carboxylase deficiency" EXACT [] synonym: "3-Methylcrotonylglycinuria" EXACT [] synonym: "BMCC deficiency" EXACT [] synonym: "Deficiency of Methylcrotonoyl-Coa Carboxylase" EXACT [] synonym: "MCC deficiency" EXACT [] synonym: "methylcrotonyl-Coa carboxylase deficiency" EXACT [] xref: GARD:10954 xref: MIM:PS210200 xref: NCI:C98674 xref: ORDO:6 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:66 ! muscle tissue disease is_a: DOID:9267 ! urea cycle disorder created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050711 name: aceruloplasminemia def: "An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. (DO)" [http://en.wikipedia.org/wiki/Aceruloplasminemia "DO", http://omim.org/entry/604290?search=604290&highlight=604290 "DO"] synonym: "CERULOPLASMIN DEFICIENCY" NARROW [] synonym: "DEFICIENCY OF FERROXIDASE" EXACT [] synonym: "familial apoceruloplasmin deficiency" EXACT [] synonym: "hereditary hypoceruloplasminemia" EXACT [] synonym: "hypoceruloplasminemia" NARROW [] synonym: "NBIA10" EXACT [] synonym: "neurodegeneration with brain iron accumulation-10" EXACT [] synonym: "systemic hemosiderosis due to aceruloplasminemia" NARROW [] xref: GARD:9499 xref: MESH:C536004 xref: MIM:604290 xref: NCI:C189281 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:2351 ! iron metabolism disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0050712 name: AGAT deficiency alt_id: MIM:612718 def: "An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. (DO)" [http://en.wikipedia.org/wiki/Arginine\:glycine_amidinotransferase#Deficiency "DO"] synonym: "arginine:glycine amidinotransferase deficiency" EXACT [] synonym: "CCDS3" EXACT [] synonym: "cerebral creatine deficiency syndrome 3" EXACT [] synonym: "creatine deficiency syndrome due to AGAT deficiency" EXACT [] synonym: "GATM deficiency" EXACT [] synonym: "GATM-RELATED CONDITION" BROAD [] synonym: "L-Arginine:Glycine Aminidotransferase Deficiency" EXACT [] xref: MESH:C567192 xref: NCI:C198575 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050798 ! cerebral creatine deficiency syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:92 ! speech disorder [Term] id: DOID:0050713 name: COX deficiency, infantile mitochondrial myopathy def: "A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. (DO)" [https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO"] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency" EXACT [] synonym: "fatal infantile COX deficiency" EXACT [] synonym: "fatal infantile cytochrome C oxidase deficiency" EXACT [] synonym: "fatal infantile encephalocardiomyopathy" EXACT [] xref: ORDO:1561 is_a: DOID:11984 ! hypertrophic cardiomyopathy is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease is_a: DOID:890 ! mitochondrial encephalomyopathy created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050715 name: methylmalonic aciduria and homocystinuria type cblC alt_id: MIM:277400 def: "A methylmalonic acidemia that has_material_basis_in deficiency in synthesis of both AdoCbl and MeCbl (cblC) and is characterized by decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase. (DO)" [http://omim.org/entry/277400?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 "DO"] synonym: "Cobalamin C deficiency" EXACT [] synonym: "cobalamin-C methylmalonic acidemia and homocystinuria" EXACT [] synonym: "MAHCC" EXACT [] synonym: "methylmalonic acidemia and homocystinemia" NARROW [] synonym: "methylmalonic acidemia and homocystinuria, cblC type" EXACT [] synonym: "methylmalonic Acidemia with Homocystinuria" NARROW [] synonym: "methylmalonic aciduria and homocystinuria, vitamin B12-responsive" EXACT [] synonym: "methylmalonic aciduria with homocystinuria, cblC type" EXACT [] synonym: "methylmalonic aciduria with homocystinuria, cblC type, digenic" NARROW [] synonym: "vitamin B12 metabolic defect with combined deficiency of methylmalonyl-CoA mutase and homocysteine:methyltetrahydrofolate methyltransferase" EXACT [] xref: MESH:C537359 xref: NCI:C142174 is_a: DOID:0050731 ! vitamin B12 deficiency is_a: DOID:0080578 ! digenic disease is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050716 name: methylmalonic aciduria and homocystinuria type cblD def: "A methylmalonic aciduria that is characterized by combined homocystinuria and methylmalonic aciduria and deficiency of MCM and MS activities. (DO)" [http://omim.org/entry/277410?search=METHYLMALONIC%20ACIDURIA&highlight=methylmalonic%20aciduria%20%22methylmalonic%20aciduria%22 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18385497 "DO"] synonym: "Cobalamin D deficiency" EXACT [] synonym: "HOMOCYSTINURIA, cblD TYPE, VARIANT 1" NARROW [] synonym: "MAHCD" EXACT [] synonym: "Methylmalonic Acidemia and Homocystinuria, CblD Type" EXACT [] synonym: "METHYLMALONIC ACIDEMIA AND HOMOCYSTINURIA, cblD TYPE METHYLMALONIC ACIDURIA, cblH TYPE" EXACT [] synonym: "METHYLMALONIC ACIDEMIA, cblH TYPE" NARROW [] synonym: "METHYLMALONIC ACIDEMIA WITH HOMOCYSTINURIA CBLD" EXACT [] synonym: "methylmalonic aciduria, cblD type, variant 2" NARROW [] synonym: "methylmalonic aciduria with homocystinuria, cblD type" EXACT [] xref: MESH:C564743 xref: MIM:277410 xref: MONDO:0010185 xref: NCI:C183524 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050717 name: methylmalonic aciduria and homocystinuria type cblF alt_id: MIM:277380 def: "A methylmalonic acidemia that is characterized by the accumulation of cobalamin in lysosomes which is then unable to synthesize the cofactors adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl) and that has_material_basis_in homozygous or compound heterozygous mutation in the LMBRD1 gene on chromosome 6q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21910240 "DO"] synonym: "cblF" EXACT [] synonym: "Cobalamin F deficiency" EXACT [] synonym: "cobalamin F disease" EXACT [] synonym: "defect in lysosomal release of cobalamin" EXACT [] synonym: "MAHCF" EXACT [] synonym: "Methylmalonic Acidemia and Homocystinuria, CblF Type" EXACT [] synonym: "Methylmalonic Aciduria due to Vitamin B12-Release Defect" EXACT [] synonym: "Vitamin B12 Lysosomal Release Defect" EXACT [] synonym: "vitamin B12 storage disease" EXACT [] xref: MESH:C564747 xref: NCI:C183525 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050718 name: vitamin metabolic disorder def: "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism. (DO)" [http://en.wikipedia.org/wiki/Inborn_error_of_metabolism "DO"] xref: EFO:0005596 xref: RDO:9003867 is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050719 name: cerebral folate receptor alpha deficiency alt_id: MIM:613068 def: "A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. (DO)" [http://en.wikipedia.org/wiki/B_vitamins "DO", https://www.ncbi.nlm.nih.gov/pubmed/19732866 "DO"] synonym: "cerebral folate deficiency" EXACT [] synonym: "NCFTD" EXACT [] synonym: "neurodegeneration due to cerebral folate transport deficiency" EXACT [] xref: MESH:C567791 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:0050720 name: ornithine translocase deficiency alt_id: MIM:238970 def: "An amino acid metabolic disorder that has_material_basis_in deficiency of ornithine translocase resulting in the accumulation of ammonia in the blood. (DO)" [http://en.wikipedia.org/wiki/Ornithine_translocase_deficiency "DO", http://rarediseases.info.nih.gov/GARD/Condition/2830/Ornithine_translocase_deficiency_syndrome.aspx "DO"] synonym: "HHH" EXACT [] synonym: "HHHS" EXACT [] synonym: "HHH syndrome" EXACT [] synonym: "hyperornithinemia-hyperammonemia-homocitrullinemia syndrome" EXACT [] synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria" EXACT [] synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome" EXACT [] synonym: "hyperornithinemia-hyperammonemia-homocitrullinuria syndrome" EXACT [] synonym: "triple H syndrome" EXACT [] xref: MESH:C538380 xref: MONDO:0009393 xref: NCI:C129029 is_a: DOID:225 ! syndrome is_a: DOID:9008972 ! Hyperammonemia is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:0050721 name: serine deficiency def: "An amino acid metabolic disorder that has_material_basis_in defects in the biosynthesis of the amino acid L-serine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15021249 "DO"] xref: MIM:PS256520 xref: RDO:9004040 is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050722 name: PHGDH deficiency alt_id: MIM:601815 alt_id: RDO:0014928 def: "A serine deficiency that has_material_basis_in deficiency of phosphoglycerate dehydrogenase which results in a disruption of L-serine biosynthesis. (DO)" [http://en.wikipedia.org/wiki/Phosphoglycerate_dehydrogenase "DO", http://www.ncbi.nlm.nih.gov/pubmed?term=18296366 "DO", http://www.omim.org/entry/601815 "DO"] synonym: "PHGDHD" EXACT [] synonym: "phosphoglycerate dehydrogenase deficiency" EXACT [] xref: MESH:C566618 is_a: DOID:0050721 ! serine deficiency is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050723 name: PSAT deficiency alt_id: MIM:610992 def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine aminotransferase and is characterized by low concentartions of serine and flycine in plasma and cerebrospinal fluid. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1852735/ "DO", http://www.omim.org/entry/610992?search=610992&highlight=610992 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=284417 "DO"] synonym: "Phosphoserine Aminotransferase Deficiency" EXACT [] synonym: "PSAT1-RELATED DISORDER" BROAD [] synonym: "PSATD" EXACT [] xref: MESH:C567032 is_a: DOID:0050721 ! serine deficiency is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050724 name: PSPH deficiency def: "A serine deficiency that has_material_basis_in deficiency of phosphoserine phosphatase impeding the synthesis of L-serine. (DO)" [http://en.wikipedia.org/wiki/PSPH "DO", http://www.omim.org/entry/614023 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=79350 "DO"] synonym: "phosphoserine phosphatase deficiency" EXACT [] synonym: "PSPHD" EXACT [] xref: MIM:614023 is_a: DOID:0050721 ! serine deficiency is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050725 name: tyrosinemia type II def: "A tyrosinemia that has_material_basis_in deficiency of hepatic tyrosine aminotransferase located_in the liver and is characterized by keratitis, painful palmoplantar hyperkeratosis, mental retardation, and elevated serum tyrosine levels. (DO)" [http://en.wikipedia.org/wiki/Tyrosinemia_type_II "DO", http://www.omim.org/entry/276600?search=276600&highlight=276600 "DO"] synonym: "hereditary tyrosinemia type II" EXACT [] synonym: "oculocutaneous tyrosinemia" EXACT [] synonym: "Richner-Hanhart syndrome" EXACT [] synonym: "Richner-Hanhart syndromes" EXACT [] synonym: "Richner-Hanhart syndrome, tyrosinosis, oculocutaneous type" EXACT [] synonym: "type 2 tyrosinemia" EXACT [] synonym: "type 2 tyrosinemias" EXACT [] synonym: "type II tyrosinemias" EXACT [] synonym: "TYRSN2" EXACT [] xref: MIM:276600 xref: NCI:C129032 xref: ORDO:28378 is_a: DOID:37 ! skin disease is_a: DOID:409 ! liver disease is_a: DOID:9275 ! tyrosinemia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050726 name: tyrosinemia type I def: "A tyrosinemia that has_material_basis_in deficiency of the enzyme fumarylacetoacetate hydrolase resulting in an increase in fumarylacetoacetate which inhibits previous steps in tyrosine degradation leading to an accumulation of tyrosine in the body. (DO)" [http://en.wikipedia.org/wiki/Type_I_tyrosinemia "DO"] synonym: "hepatorenal tyrosinemia" EXACT [] synonym: "hepatorenal tyrosinemias" EXACT [] synonym: "hereditary tyrosinemia, type I" EXACT [] synonym: "type I hypertyrosinemia" EXACT [] synonym: "tyrosinemia type 1" EXACT [] synonym: "TYRSN1" EXACT [] xref: MIM:276700 xref: NCI:C98641 is_a: DOID:9275 ! tyrosinemia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050727 name: tyrosinemia type III def: "A tyrosinemia that has_material_basis_in deficiency of 4-hydroxyphenylpyruvate dioxygenase disrupting the break down of tyrosine. (DO)" [http://en.wikipedia.org/wiki/Type_III_tyrosinemia "DO", http://www.omim.org/entry/276710?search=tyrosinemia&highlight=tyrosinemia "DO"] synonym: "4 hydroxyphenol pyruvic acid oxidase deficiency disease" EXACT [] synonym: "4-hydroxyphenylpyruvate dioxygenase deficiencies" EXACT [] synonym: "4-hydroxyphenylpyruvate dioxygenase deficiency" EXACT [] synonym: "4 hydroxyphenylpyruvate dioxygenase deficiency disease" EXACT [] synonym: "4-hydroxyphenylpyruvic acid oxidase deficiency" EXACT [] synonym: "hereditary tyrosinemia, type III" EXACT [] synonym: "TYRSN3" EXACT [] xref: MIM:276710 is_a: DOID:9275 ! tyrosinemia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050728 name: glycogen metabolism disorder def: "A carbohydrate metabolism disorder that is characterized by abnormal accumulation or depletion of liver glycogen. (DO)" [http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism "DO"] is_a: DOID:2978 ! carbohydrate metabolic disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050729 name: Chanarin-Dorfman syndrome alt_id: MIM:275630 def: "A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. (DO)" [http://en.wikipedia.org/wiki/Chanarin-Dorfman_syndrome "DO"] synonym: "CDS" EXACT [] synonym: "Chanarin-Dorfman disease" EXACT [] synonym: "DCS" EXACT [] synonym: "ichthyosiform erythroderma with leukocyte vacuolation" EXACT [] synonym: "ichthyotic neutral lipid storage disease" EXACT [] synonym: "neutral lipid storage disease" EXACT [] synonym: "neutral lipid storage disease with ichthyosis" EXACT [] synonym: "neutral lipid storage myopathy" EXACT [] synonym: "NLSDI" EXACT [] synonym: "triglyceride storage disease with ichthyosis" EXACT [] synonym: "triglyceride storage disease with impaired long-chain fatty acid oxidation" EXACT [] xref: GARD:3979 xref: MESH:C536560 xref: ORDO:98907 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:0080000 ! muscular disease is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0050730 name: coenzyme Q10 deficiency disease def: "A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. (DO)" [http://en.wikipedia.org/wiki/Coenzyme_Q10#CoQ10_deficiency_and_toxicity "DO"] synonym: "COENZYME Q10 DEFICIENCY, OCULOMOTOR APRAXIA TYPE" NARROW [] synonym: "COENZYME Q10 DEFICIENCY, SPINOCEREBELLAR ATAXIA TYPE" NARROW [] synonym: "coenzyme Q deficiency" EXACT [] synonym: "CoQ Deficiency" EXACT [] synonym: "primary coenzyme Q10 deficiency" EXACT [] synonym: "primary CoQ10 deficiency" EXACT [] synonym: "ubiquinone deficiency" EXACT [] xref: GARD:10423 xref: MESH:C564403 xref: MIM:PS607426 is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9004866 ! Ataxia is_a: DOID:9005532 ! Muscle Weakness [Term] id: DOID:0050731 name: vitamin B12 deficiency alt_id: MIM:612542 def: "A vitamin metabolic disorder that results from low blood levels of vitamin B12. (DO)" [http://en.wikipedia.org/wiki/B12_deficiency "DO"] synonym: "acquired cobalamin-deficient neuropathy" NARROW [] synonym: "cobalamin deficiency" EXACT [] synonym: "hypocobalaminemia" EXACT [] synonym: "vitamin B12 deficiencies" EXACT [] synonym: "vitamin B12 deficiency anemia" NARROW [] xref: EFO:0000734 xref: MESH:D014806 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:9002785 ! Vitamin B Deficiency [Term] id: DOID:0050732 name: methylmalonic aciduria and homocystinuria type cblE def: "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15 that causes inborn error of vitamin B12 metabolism. (DO)" [https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cb "DO", https://www.omim.org/entry/236270 "DO"] xref: EFO:0005568 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050733 name: methylmalonic aciduria and homocystinuria type cblG def: "A methylmalonic acidemia that is characterized by megaloblastic anemia, lethargy, failure to thrive, developmental delay, intellectual deficit and seizures, has_material_basis_in homozygous or compound heterozygous mutation in the MTR gene on chromosome 1q43 that causes an inborn error of vitamin B12 metabolism. (DO)" [https://rarediseases.info.nih.gov/diseases/3584/methylmalonic-acidemia-with-homocystinuria-type-cblf "DO", https://www.omim.org/entry/250940 "DO"] synonym: "HMAG" EXACT [] synonym: "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG COMPLEMENTATION TYPE" EXACT [] synonym: "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblG TYPE" EXACT [] synonym: "Homocystinuria-Megaloblastic Anemia due to Defect in Cobalamin Metabolism, CblG Complementation Type" EXACT [] synonym: "METHIONINE SYNTHASE DEFICIENCY" EXACT [] synonym: "methylcobalamin deficiency type CblG" EXACT [] xref: EFO:0005597 xref: MESH:C565394 xref: MIM:250940 xref: MONDO:0009609 xref: ORDO:2170 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:0050734 name: congenital intrinsic factor deficiency alt_id: MIM:261000 def: "A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. (DO)" [http://omim.org/entry/261000?search=261000&highlight=261000 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=332 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14695536 "DO"] synonym: "congenital pernicious anemia, due to defect of intrinsic factor" EXACT [] synonym: "hereditary intrinsic factor deficiency" EXACT [] synonym: "IFD" EXACT [] synonym: "intrinsic factor deficiency" EXACT [] xref: MESH:C563242 is_a: DOID:0050731 ! vitamin B12 deficiency is_a: DOID:0080015 ! physical disorder is_a: DOID:13381 ! pernicious anemia [Term] id: DOID:0050735 name: X-linked monogenic disease def: "A monogenic disease that has_material_basis_in mutations in genes on the X chromosome. (DO)" [http://en.wikipedia.org/wiki/Genetic_disorder#X-linked_dominant "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO"] synonym: "Genetic Diseases, X Chromosome Linked" EXACT [] synonym: "X-linked disease" EXACT [] synonym: "X-linked genetic disease" EXACT [] synonym: "X-linked inheritance" EXACT [] xref: MESH:D040181 is_a: DOID:0050177 ! monogenic disease [Term] id: DOID:0050736 name: autosomal dominant disease def: "An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. (DO)" [http://ghr.nlm.nih.gov/glossary=autosomaldominant "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO", http://www.nlm.nih.gov/medlineplus/ency/article/002049.htm "DO"] xref: RDO:9002039 is_a: DOID:0050739 ! autosomal genetic disease created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050737 name: autosomal recessive disease def: "An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. (DO)" [http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO", http://www.nlm.nih.gov/medlineplus/ency/article/002052.htm "DO"] xref: EFO:1000017 is_a: DOID:0050739 ! autosomal genetic disease created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050738 name: Y-linked monogenic disease def: "A monogenic disease that has_material_basis_in mutations on the Y chromosome. (DO)" [http://en.wikipedia.org/wiki/Genetic_disorder#Y-linked "DO"] synonym: "Y chromosome linked genetic diseases" EXACT [] synonym: "Y-linked disease" EXACT [] synonym: "Y-linked genetic disease" EXACT [] xref: MESH:D050174 is_a: DOID:0050177 ! monogenic disease [Term] id: DOID:0050739 name: autosomal genetic disease def: "A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes. (DO)" [http://ghr.nlm.nih.gov/glossary=autosomaldominant "DO", http://ghr.nlm.nih.gov/handbook/inheritance/inheritancepatterns "DO"] is_a: DOID:0050177 ! monogenic disease created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050740 name: Qazi Markouizos syndrome alt_id: MIM:600096 def: "A syndrome that is characterized by hypotonia, congenital fiber type disproportion and dysharmonic skeletal maturation. (DO)" [http://omim.org/entry/600096 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=3010 "DO"] synonym: "dysharmonic skeletal maturation muscular fibre disproportion" EXACT [] synonym: "Puerto Rican infant hypotonia syndrome" EXACT [] synonym: "Puertorican infant hypotonia syndrome" EXACT [] xref: GARD:371 xref: MESH:C536259 is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050741 name: alcohol dependence def: "A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. (DO)" [https://en.wikipedia.org/wiki/Alcohol_dependence "DO"] synonym: "alcohol addiction" EXACT [] synonym: "alcoholism" EXACT [] synonym: "GABRA2-RELATED CONDITION" BROAD [] xref: EFO:0003829 xref: MIM:103780 xref: MONDO:0007079 is_a: DOID:9004354 ! Alcohol-Related Disorders is_a: DOID:9973 ! substance dependence created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050742 name: nicotine dependence alt_id: DOID:9001310 def: "A substance dependence that is characterized by a physical dependence on nicotine. (DO)" [https://en.wikipedia.org/wiki/Nicotine_dependence "DO"] synonym: "CHRNA4-RELATED CONDITION" BROAD [] synonym: "cigarette habituation, susceptibility to" RELATED [] synonym: "NICOTINE ADDICTION, PROTECTION AGAINST" RELATED [] synonym: "NICOTINE ADDICTION, SUSCEPTIBILITY TO" RELATED [] synonym: "NICOTINE DEPENDENCE, SUSCEPTIBILITY TO" RELATED [] synonym: "Nicotine Use Disorder" EXACT [] synonym: "Nicotine Use Disorders" EXACT [] synonym: "smoking habit, susceptibility to" RELATED [] synonym: "tobacco addiction, susceptibility to" RELATED [] synonym: "Tobacco Dependence" EXACT [] synonym: "tobacco use disorder" EXACT [] synonym: "Tobacco Use Disorders" EXACT [] xref: EFO:0003768 xref: ICD10CM:F17 xref: MESH:D014029 xref: MIM:188890 xref: MONDO:0008575 xref: NCI:C54203 is_a: DOID:9973 ! substance dependence created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050743 name: mature T-cell and NK-cell lymphoma def: "A T-cell non-Hodgkin lymphoma that has_material_basis_in mature T lymphocytes and natural killer cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=393800 "DO", http://www.cancer.gov/dictionary?CdrID=44062 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21919697 "DO"] synonym: "mature T-cell and natural killer cell lymphoma" EXACT [] synonym: "NK-T cell lymphoma" EXACT [] is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050744 name: anaplastic large cell lymphoma def: "A non-Hodgkin lymphoma involving aberrant T-cells. (DO)" [http://en.wikipedia.org/wiki/Anaplastic_large-cell_lymphoma#Epidemiology "DO"] synonym: "anaplastic large-cell lymphomas" EXACT [] synonym: "CD30+ Anaplastic Large Cell Lymphoma" EXACT [] synonym: "CD30 Positive Anaplastic Large Cell Lymphoma" EXACT [] synonym: "Central Nervous System Anaplastic Large Cell Lymphoma" NARROW [] synonym: "EFO:0003032" EXACT [] synonym: "Ki 1 Lymphoma" EXACT [] synonym: "Ki-1 Lymphomas" EXACT [] synonym: "Lymphoma, Large-Cell, Ki-1" EXACT [] synonym: "systemic anaplastic large cell lymphoma" EXACT [] xref: EFO:0003032 xref: EFO:1000156 xref: ICDO:9714/3 xref: MESH:D017728 xref: NCI:C3720 is_a: DOID:0060060 ! non-Hodgkin lymphoma is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma [Term] id: DOID:0050745 name: diffuse large B-cell lymphoma def: "A large B-cell lymphoma that is consisting of medium-sized to large B cells with a diffuse growth pattern. (DO)" [http://en.wikipedia.org/wiki/Diffuse_large_B-cell_lymphoma "DO", https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C148392 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28487884 "DO"] synonym: "Breast Diffuse Large B-Cell Lymphoma" NARROW [] synonym: "Colorectal Diffuse Large B-Cell Lymphoma" NARROW [] synonym: "diffuse histiocytic lymphoma" EXACT [] synonym: "diffuse histiocytic lymphomas" EXACT [] synonym: "diffuse large cell lymphoma" EXACT [] synonym: "diffuse large-cell lymphomas" EXACT [] synonym: "diffuse large lymphoid lymphoma" EXACT [] synonym: "DLBCL" EXACT [] synonym: "EFO:0000403" EXACT [] synonym: "histiocytic lymphoma" EXACT [] synonym: "histiocytic lymphomas" EXACT [] synonym: "PCLBCL" NARROW [] synonym: "primary cutaneous large B-cell lymphoma" NARROW [] synonym: "Primary Pulmonary Diffuse Large B-Cell Lymphoma" NARROW [] synonym: "Small Intestinal Diffuse Large B-Cell Lymphoma" NARROW [] synonym: "Thyroid Gland Diffuse Large B-Cell Lymphoma" NARROW [] xref: EFO:0000403 xref: EFO:1000144 xref: EFO:1000191 xref: EFO:1000495 xref: EFO:1000534 xref: EFO:1000547 xref: EFO:1000587 xref: GARD:3178 xref: ICD11:2A81.Z xref: ICDO:9680/3 xref: MESH:D016403 xref: NCI:C45605 xref: NCI:C80280 xref: NCI:C8851 is_a: DOID:0081452 ! large B-cell lymphoma [Term] id: DOID:0050746 name: mantle cell lymphoma def: "A B-cell lymphocytic neoplasm due to CD5 positive antigen-naive pregerminal center B-cell within the mantle zone that surrounds normal germinal center follicles. (DO)" [http://en.wikipedia.org/wiki/Mantle_cell_lymphoma "DO"] synonym: "Centrocytic Small-Cell Lymphoma" EXACT [] synonym: "centrocytic small-cell lymphomas" EXACT [] synonym: "Diffuse Lymphocytic Lymphoma, Poorly Differentiated" EXACT [] synonym: "EFO:1001469" EXACT [] synonym: "Gastric Mantle Cell Lymphoma" NARROW [] synonym: "Lymphoma, Lymphocytic, Diffuse, Intermediate Differentiated" EXACT [] synonym: "Lymphoma, Lymphocytic, Intermediate" EXACT [] synonym: "Mantle-Cell Lymphomas" EXACT [] synonym: "Mantle Cell Lymphoma, Somatic" EXACT [] synonym: "Mantle Zone Lymphoma" EXACT [] synonym: "mantle-zone lymphomas" EXACT [] synonym: "Splenic Mantle Cell Lymphoma" NARROW [] xref: EFO:1000272 xref: EFO:1000549 xref: EFO:1001469 xref: GARD:6969 xref: ICDO:9673/3 xref: MESH:D020522 xref: NCI:C187985 xref: NCI:C4337 is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:0050748 name: marginal zone lymphoma def: "A B-cell lymphoma arising from the marginal zone of lymphoid tissues that is characterized by the presence of small to medium sized atypical lymphocytes. (DO)" [http://en.wikipedia.org/wiki/Marginal_zone_B-cell_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=562554 "DO"] synonym: "EFO:1000630" EXACT [] synonym: "marginal zone B-cell lymphoma" EXACT [] xref: EFO:1000630 xref: MESH:D018442 is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:0050749 name: peripheral T-cell lymphoma def: "A mature T-cell and NK-cell lymphoma includes a group of T-cell lymphomas that develop away from the thymus. (DO)" [http://en.wikipedia.org/wiki/Peripheral_T-cell_lymphoma "DO"] synonym: "peripheral T-cell lymphomas" EXACT [] synonym: "unspecified peripheral T-cell lymphoma" NARROW [] xref: EFO:0000211 xref: GARD:7368 xref: MESH:D016411 is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma [Term] id: DOID:0050750 name: splenic marginal zone lymphoma def: "A marginal zone B-cell lymphocyte located_in the spleen comprised of B-cells in place of white pulp. (DO)" [http://en.wikipedia.org/wiki/Splenic_marginal_zone_lymphoma "DO"] synonym: "EFO:1000550" EXACT [] synonym: "splenic lymphoma with villous lymphocytes" EXACT [] synonym: "splenic marginal zone B-cell lymphoma" EXACT [] xref: EFO:1000550 xref: NCI:C4663 is_a: DOID:0050748 ! marginal zone lymphoma is_a: DOID:4960 ! bone marrow cancer is_a: DOID:672 ! spleen cancer created_by: rgd creation_date: 2016-08-22T00:00:00Z [Term] id: DOID:0050751 name: T-cell large granular lymphocyte leukemia def: "A T-cell acute lymphocytic leukemia that exhibits an unexplained, chronic (greater than 6 months) elevation in large granular lymphocytes (LGLs) in the peripheral blood. (DO)" [http://en.wikipedia.org/wiki/T-cell_large_granular_lymphocyte_leukemia "DO"] synonym: "Aggressive Natural Killer Cell Leukemia" EXACT [] synonym: "Aggressive NK Cell Leukemia" EXACT [] synonym: "Large Granular Lymphocyte Leukemia" EXACT [] synonym: "Large granular lymphocytic leukaemia" EXACT [] synonym: "large granular lymphocytoses" EXACT [] synonym: "Large Granular Lymphocytosis" EXACT [] synonym: "Leukemia, Large Granular Lymphocytic" EXACT [] synonym: "LGL Leukemia" EXACT [] synonym: "LGL leukemias" EXACT [] synonym: "lymphoproliferative disease of granular lymphocytes" EXACT [] synonym: "Lymphoproliferative Disease of Large Granular Lymphocytes" EXACT [] synonym: "Natural Killer Cell Large Granular Lymphocytic Leukemia" EXACT [] synonym: "NK Cell Large Granular Lymphocytic Leukemia" EXACT [] synonym: "NK LGL leukemia" EXACT [] synonym: "NK-LGL leukemias" EXACT [] synonym: "T-cell large granular lymphocyte leukaemia" EXACT [] synonym: "T-cell large granular lymphocytic leukemia" EXACT [] synonym: "T-LGL leukemia" EXACT [] synonym: "T-LGL leukemias" EXACT [] xref: ICDO:9831/3 xref: MESH:D054066 xref: NCI:C4664 xref: NCI:C64066 is_a: DOID:1040 ! chronic lymphocytic leukemia is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia [Term] id: DOID:0050752 name: amyotrophic lateral sclerosis type 8 alt_id: MIM:608627 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/608627 "DO"] synonym: "ALS8" EXACT [] synonym: "amyotrophic lateral sclerosis 8" EXACT [] xref: GARD:10499 xref: MESH:C563895 xref: NCI:C168751 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0050753 name: cerebellar ataxia alt_id: OMIA:000078 alt_id: OMIA:001692 alt_id: OMIA:001913 alt_id: OMIA:001954 alt_id: OMIA:002110 def: "A hereditary ataxia that is characterized by ataxia originating in the cerebellum. (DO)" [http://en.wikipedia.org/wiki/Cerebellar_ataxia "DO"] synonym: "adiadochokineses" EXACT [] synonym: "Adiadochokinesis" EXACT [] synonym: "Ataxia, cerebellar, juvenile to adolescent, RAB24-related" NARROW [] synonym: "Ataxia, cerebellar, neonatal" NARROW [] synonym: "Ataxia, cerebellar, neonatal, GRM1-related" NARROW [] synonym: "Ataxia, cerebellar, progressive early-onset" NARROW [] synonym: "Ataxia, cerebellar, progressive early-onset, SEL1L-related" NARROW [] synonym: "cerebellar ataxia, juvenile to adolescent" NARROW [] synonym: "cerebellar ataxias" EXACT [] synonym: "Cerebellar Dysmetria" EXACT [] synonym: "Cerebellar Dysmetrias" EXACT [] synonym: "Cerebellar Hemiataxia" EXACT [] synonym: "Cerebellar Hemiataxias" EXACT [] synonym: "Cerebellar Incoordination" EXACT [] synonym: "Cerebellar Incoordinations" EXACT [] synonym: "Dysmetria" EXACT [] synonym: "Dysmetrias" EXACT [] synonym: "hypermetria" EXACT [] synonym: "hypermetrias" EXACT [] synonym: "neurodegenerative vacuolar storage disease" NARROW [] xref: MESH:D002524 is_a: DOID:0050951 ! hereditary ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0050754 name: ataxia with oculomotor apraxia type 1 alt_id: MIM:208920 def: "An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1 "DO"] synonym: "adult-onset ataxia with oculomotor apraxia" EXACT [] synonym: "AOA" EXACT [] synonym: "AOA1" EXACT [] synonym: "ataxia-oculomotor apraxia 1" EXACT [] synonym: "ataxia-oculomotor apraxia syndrome" EXACT [] synonym: "Ataxia-telangiectasia-like syndrome" EXACT [] synonym: "CEREBELLAR ATAXIA, EARLY-ONSET, WITH HYPOALBUMINEMIA" NARROW [] synonym: "EAOH" EXACT [] synonym: "Early-Onset Ataxia with Ocular Motor Apraxia and Hypoalbuminemia" EXACT [] synonym: "Early-Onset Ataxia with Oculomotor Apraxia and Hypoalbuminemia" EXACT [] synonym: "EOCA-HA ATAXIA, ADULT-ONSET, WITH OCULOMOTOR APRAXIA" NARROW [] xref: GARD:9283 xref: MESH:C538013 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0060135 ! apraxia is_a: DOID:9007271 ! Hypoalbuminemia [Term] id: DOID:0050755 name: spinocerebellar ataxia with axonal neuropathy 2 alt_id: MIM:606002 def: "An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19696032/ "DO", https://pubmed.ncbi.nlm.nih.gov/23786967/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1154/ "DO"] synonym: "AOA2" EXACT [] synonym: "ataxia-ocular apraxia 2" EXACT [] synonym: "ataxia-oculomotor apraxia 2" EXACT [] synonym: "ataxia with oculomotor apraxia" EXACT [] synonym: "ataxia with oculomotor apraxia type 2" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia 1" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy 2" EXACT [] synonym: "recessive spinocerebellar ataxia, Non-Friedreich type 1" EXACT [] synonym: "SCAN2" EXACT [] synonym: "SCAR1" EXACT [] synonym: "SETX-RELATED CONDITION" BROAD [] synonym: "SETX-RELATED DISORDER" BROAD [] synonym: "SETX-RELATED DISORDERS" BROAD [] synonym: "spinocerebellar ataxia with axonal neuropathy type 2" EXACT [] xref: GARD:12860 xref: MESH:C537308 xref: NCI:C165500 xref: ORDO:64753 is_a: DOID:0060135 ! apraxia is_a: DOID:9000588 ! Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050757 name: deafness-dystonia-optic neuronopathy syndrome alt_id: DOID:0050867 alt_id: MIM:304700 def: "A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. (DO)" [http://en.wikipedia.org/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome "DO", http://ghr.nlm.nih.gov/condition/deafness-dystonia-optic-neuronopathy-syndrome "DO", http://omim.org/entry/304700 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1216/ "DO"] synonym: "DDP" EXACT [] synonym: "DDS" EXACT [] synonym: "deafness (DFN-1) dystonia, mental deficiency and blindness" EXACT [] synonym: "deafness-dystonia-optic atrophy syndrome" EXACT [] synonym: "deafness dystonia syndrome" EXACT [] synonym: "Jensen syndrome" EXACT [] synonym: "Mohr-Tranebjaerg syndrome" EXACT [] synonym: "Mohr-Tranebjærg Syndrome" EXACT [] synonym: "MTS" EXACT [] synonym: "nerve deafness, optic nerve atrophy, and dementia" EXACT [] synonym: "opticoacoustic nerve atrophy with dementia" EXACT [] synonym: "opticoacustic nerve atrophy with dementia" EXACT [] synonym: "progressive deafness syndrome with blindness, dystonia, fractures, and mental deficiency" EXACT [] synonym: "syndrome of opticoacoustic nerve atrophy with dementia" EXACT [] xref: MESH:C535808 xref: MESH:C537568 xref: ORDO:3213 is_a: DOID:0060140 ! cortical deafness is_a: DOID:1059 ! intellectual disability is_a: DOID:1307 ! dementia is_a: DOID:225 ! syndrome is_a: DOID:543 ! dystonia is_a: DOID:5723 ! optic atrophy is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9005165 ! Deaf-Blind Disorders created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0050758 name: metabolic acidosis def: "An acquired metabolic disease that characterized by excessive production of acid. (DO)" [http://en.wikipedia.org/wiki/Metabolic_acidosis "DO", https://medlineplus.gov/ency/article/000335.htm "DO"] synonym: "metabolic acidoses" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:9002802 ! Acidoses [Term] id: DOID:0050759 name: myotonic dystrophy type 2 def: "A myotonic disease that is characterized by myotonia and progressive, proximal muscle wasting and weakness affecting the skeletal and smooth muscles of the neck, shoulders, elbows and hips and has_material_basis_in the autosomal dominant inheritance of the CNBP (ZNF9) gene containing an expansion of a CCTG repeat in intron one. (DO)" [http://ghr.nlm.nih.gov/condition/myotonic-dystrophy "DO", http://www.ncbi.nlm.nih.gov/books/NBK1466/ "DO"] synonym: "proximal myotonic dystrophy" EXACT [] synonym: "proximal myotonic myopathy" EXACT [] synonym: "Ricker disease" EXACT [] synonym: "Ricker syndrome" EXACT [] xref: GARD:9728 xref: ICD10CM:G71.1 xref: MIM:602668 xref: NCI:C122789 xref: NCI:C122790 xref: ORDO:606 is_a: DOID:450 ! myotonic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050760 name: X-linked myopathy with excessive autophagy alt_id: MIM:310440 alt_id: RDO:0013167 def: "A myopathy that is characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles in males between 5 and 10 years old, has_material_basis_in mutation in the VMA21 gene on chromosome Xq28. (DO)" [https://rarediseases.org/rare-diseases/x-linked-myopathy-with-excessive-autophagy/ "DO"] synonym: "MEAX" EXACT [] synonym: "XMEA" EXACT [] xref: GARD:3892 xref: MESH:C564093 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:423 ! myopathy [Term] id: DOID:0050762 name: adenylosuccinase lyase deficiency alt_id: MIM:103050 def: "An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. (DO)" [https://en.wikipedia.org/wiki/Adenylosuccinate_lyase_deficiency "DO"] synonym: "Adenylosuccinase deficiency" EXACT [] synonym: "adenylosuccinate lyase deficiency" EXACT [] synonym: "Adenylosuccinate lyase deficiency type 1" EXACT [] synonym: "Adenylosuccinate lyase deficiency type 2" EXACT [] synonym: "Adenylosuccinate lyase deficiency type 3" EXACT [] synonym: "Adenylosuccinate lyase deficiency type 4" EXACT [] synonym: "ADSLD" EXACT [] synonym: "ADSL deficiency" EXACT [] synonym: "ADSL-RELATED CONDITION" EXACT [] synonym: "succinylpurinemic autism" EXACT [] xref: GARD:550 xref: MESH:C538235 xref: RDO:0004188 is_a: DOID:12849 ! autistic disorder is_a: DOID:653 ! purine-pyrimidine metabolic disorder is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0050763 name: ARC syndrome def: "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. (DO)" [http://en.wikipedia.org/wiki/Arthrogryposis%E2%80%93renal_dysfunction%E2%80%93cholestasis_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/16896922 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22753090 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24415890 "DO"] synonym: "ARCS" EXACT [] synonym: "arthrogryposis multiplex congenita, renal dysfunction, and cholestasis" EXACT [] synonym: "arthrogryposis, renal dysfunction, and cholestasis" EXACT [] synonym: "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome" EXACT [] synonym: "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS SYNDROME" EXACT [] synonym: "arthrogryposis-renal dysfunction-cholestasis" EXACT [] synonym: "arthrogryposis renal dysfunction cholestasis syndrome" EXACT [] synonym: "arthrogryposis with renal dysfunction and cholestasis syndrome" EXACT [] xref: MESH:C535382 xref: MIM:PS208085 xref: ORDO:2697 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1074 ! kidney failure is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome [Term] id: DOID:0050764 name: Armfield syndrome alt_id: MIM:300261 def: "A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398235 "DO"] synonym: "Armfield X-Linked Mental Retardation Syndrome" EXACT [] synonym: "FAM50A-RELATED CONDITION" EXACT [] synonym: "Mental Retardation, X-Linked, Armfield Type" EXACT [] synonym: "MRXSA" EXACT [] synonym: "X-linked intellectual disability, Armfield type" EXACT [] synonym: "X-linked mental retardation syndrome, Armfield type" EXACT [] synonym: "X-linked syndromic intellectual developmental disorder, Armfield type" EXACT [] synonym: "X-linked syndromic mental retardation, Armfield type" EXACT [] xref: MESH:C564551 xref: ORDO:85276 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome [Term] id: DOID:0050765 name: neuroacanthocytosis def: "A neurodegenerative disease that is characterized by characterized by misshapen, spiny red blood cells (acanthocytosis) and neurological abnormalities, especially movement disorders. (DO)" [https://en.wikipedia.org/wiki/Neuroacanthocytosis "DO", https://rarediseases.org/rare-diseases/neuroacanthocytosis/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1387/ "DO"] synonym: "acanthocytosis with neurologic disorder" EXACT [] xref: GARD:10902 xref: MESH:D054546 xref: ORDO:263440 is_a: DOID:12859 ! choreatic disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0050766 name: choreaacanthocytosis def: "A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. (DO)" [https://en.wikipedia.org/wiki/Chorea_acanthocytosis "DO", https://ghr.nlm.nih.gov/condition/chorea-acanthocytosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/9382101 "DO"] synonym: "CHAC" EXACT [] synonym: "chorea acanthocytosis" EXACT [] synonym: "chorea acanthocytosis syndrome" EXACT [] synonym: "choreo-acanthocytosis" EXACT [] synonym: "choreoacanthocytosis" EXACT [] synonym: "Levine-Critchley syndrome" EXACT [] synonym: "VPS13A-RELATED CONDITION" EXACT [] xref: GARD:3956 xref: MIM:200150 xref: NCI:C84926 xref: ORDO:2388 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050765 ! neuroacanthocytosis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050767 name: midface dysplasia def: "An osteochondrodysplasia that is characterized by hypertelorism, a wide nose, vertical midline cleft and encephalocele. (DO)" [https://en.wikipedia.org/wiki/Frontonasal_dysplasia "DO"] is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0050768 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 1 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATPAF2 gene on chromosome 17p11. (DO)" [http://omim.org/entry/604273 "DO"] synonym: "MC5DN1" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, ATPAF2 type" EXACT [] xref: MIM:604273 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0050769 name: N syndrome alt_id: MIM:310465 def: "A syndrome that is characterized by intellectual disability, deafness, ocular abnormalities, T-cell leukemia, cryptorchidism, hypospadias and spasticity. (DO)" [https://rarediseases.info.nih.gov/diseases/3902/n-syndrome "DO"] synonym: "NSX" EXACT [] xref: GARD:3902 xref: MESH:C536108 xref: ORDO:2608 is_a: DOID:1059 ! intellectual disability is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:0050770 name: polycystic liver disease def: "A liver disease that is characterized by the presence of multiple cysts located_in the liver. (DO)" [https://rarediseases.org/rare-diseases/polycystic-liver-disease/ "DO"] synonym: "congenital cystic disease of liver" EXACT [] synonym: "congenital cystic liver disease" EXACT [] synonym: "congenital hepatic cyst" EXACT [] synonym: "cystic liver disease" BROAD [] synonym: "fibrocystic liver disease" EXACT [] xref: EFO:1001505 xref: GARD:9457 xref: MESH:C536330 xref: MIM:PS174050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:409 ! liver disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:0050771 name: pheochromocytoma alt_id: MIM:171300 def: "An endocrine organ benign neoplasm that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones that cause either episodic or persistent high blood pressure. (DO)" [https://en.wikipedia.org/wiki/Pheochromocytoma "DO", https://rarediseases.info.nih.gov/diseases/7385/pheochromocytoma "DO", https://www.mayoclinic.org/diseases-conditions/pheochromocytoma/symptoms-causes/syc-20355367 "DO", https://www.omim.org/entry/171300 "DO"] synonym: "Benign Adrenal Gland Pheochromocytoma" EXACT [] synonym: "phaeochromocytoma" EXACT [] synonym: "pheochromocytomas" EXACT [] synonym: "pheochromocytoma, susceptibility to" RELATED [] xref: EFO:1000106 xref: GARD:7385 xref: MESH:D010673 xref: MONDO:0008233 is_a: DOID:0060089 ! endocrine organ benign neoplasm [Term] id: DOID:0050772 name: spastic ataxia 1 alt_id: MIM:108600 def: "A spastic ataxia characterized by early-onset cerebellar ataxia, spasticity, pyramidal syndrome and peripheral neuropathy, has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the VAMP1 gene on chromosome 12p13. (DO)" [https://rarediseases.info.nih.gov/diseases/4910/spastic-ataxia-charlevoix-saguenay-type "DO"] synonym: "spastic ataxia 1, autosomal dominant" EXACT [] synonym: "SPAX1" EXACT [] xref: MESH:C566993 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0050773 name: paraganglioma alt_id: DOID:9000364 def: "A pheochromocytoma that arises in extraadrenal sympathetic ganglia. (DO)" [https://en.wikipedia.org/wiki/Paraganglioma "DO", https://ghr.nlm.nih.gov/condition/hereditary-paraganglioma-pheochromocytoma "DO"] synonym: "Bladder Paraganglioma" NARROW [] synonym: "CBT1" EXACT [] synonym: "chemodectoma" EXACT [] synonym: "Chemodectomas" EXACT [] synonym: "Extra-Adrenal Paraganglioma" EXACT [] synonym: "Extra-Adrenal Paragangliomas" EXACT [] synonym: "extra-adrenal sympathetic paraganglioma" EXACT [] synonym: "gangliocytic paraganglioma" EXACT [] synonym: "gangliocytic paragangliomas" EXACT [] synonym: "glomus body tumor" EXACT [] synonym: "hereditary paragangliomas and pheochromocytomas" EXACT [] synonym: "Non-Chromaffin Paraganglioma" EXACT [] synonym: "Nonchromaffin Paraganglioma" EXACT [] synonym: "Non-Chromaffin Paragangliomas" EXACT [] synonym: "Nonchromaffin Paragangliomas" EXACT [] synonym: "paraganglioma, familial malignant" NARROW [] synonym: "paragangliomas" EXACT [] synonym: "paragangliomata" EXACT [] synonym: "PGL" EXACT [] synonym: "pheochromocytoma-paraganglioma" EXACT [] synonym: "Vagus Nerve Paraganglioma" NARROW [] xref: EFO:0000489 xref: EFO:0020005 xref: EFO:1000128 xref: EFO:1000453 xref: EFO:1000621 xref: ICDO:8680/3 xref: MESH:D010235 xref: MESH:D010236 xref: MIM:PS168000 xref: NCI:C3308 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050771 ! pheochromocytoma [Term] id: DOID:0050774 name: rapadilino syndrome def: "A syndrome that is characterized by radial ray defect, patellae hypoplasia, cleft palate, diarrhea, dislocated joints, limb malformations, long nose and normal intelligence, has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)" [https://rarediseases.info.nih.gov/diseases/4637/rapadilino-syndrome "DO"] synonym: "radial and patellar aplasia" EXACT [] synonym: "radial and patellar hypoplasia" EXACT [] xref: GARD:4637 xref: MESH:C535288 xref: MIM:266280 xref: MONDO:0009955 xref: ORDO:3021 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:2732 ! Rothmund-Thomson syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0050775 name: schneckenbecken dysplasia alt_id: RDO:0002274 def: "An osteochondrodysplasia that is characterized by hypoplastic iliac bones, hypoplastic vertebral bodies, short ribs and broad long bones, prenatally lethal, has_material_basis_in homozygous or compound heterozygous mutation in the SLC35D1 gene on chromosome 1p31. (DO)" [https://rarediseases.info.nih.gov/diseases/169/schneckenbecken-dysplasia "DO"] synonym: "Chondrodysplasia, lethal neonatal, with snail-like pelvis" EXACT [] synonym: "SHNKND" EXACT [] xref: GARD:169 xref: MESH:C536637 xref: MIM:269250 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0050776 name: non-syndromic X-linked intellectual disability def: "A non-syndromic intellectual disability characterized by a X-linked inheritance pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7011032 "DO"] synonym: "X-linked non-specific mental retardation" EXACT [] xref: MESH:C564490 xref: MIM:PS309530 xref: ORDO:777 is_a: DOID:0050889 ! non-syndromic intellectual disability is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0050777 name: Joubert syndrome def: "A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones. (DO)" [http://en.wikipedia.org/wiki/Joubert_syndrome "DO", http://omim.org/entry/213300?search=joubert&highlight=joubert "DO"] synonym: "JBTS" EXACT [] synonym: "Joubert syndrome and related disorders" EXACT [] xref: GARD:6802 xref: MIM:PS213300 xref: NCI:C74996 xref: ORDO:475 is_a: DOID:0060340 ! ciliopathy is_a: DOID:2786 ! cerebellar disease created_by: rgd creation_date: 2016-11-09T00:00:00Z [Term] id: DOID:0050778 name: Meckel syndrome def: "A ciliopathy that is characterized by renal cystic dysplasia, occipital encephalocele, polydactyly (post axial), hepatic developmental defects, and pulmonary hypoplasia. (DO)" [http://en.wikipedia.org/wiki/Meckel_syndrome "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/661/viewAbstract "DO"] synonym: "Meckel Gruber syndrome" EXACT [] xref: GARD:3436 xref: ICD9CM:753.1 xref: MIM:PS249000 xref: NCI:C98978 xref: ORDO:564 is_a: DOID:0060340 ! ciliopathy created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050779 name: hydrolethalus syndrome def: "A syndrome characterized by multiple fetal developmental defects including polydactyly and central nervous system malformations that results from a single amino acid mutation of D211G of the HYLS1 gene which plays a central role in cilia formation. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1017280/?page=1 "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2751977/#B33 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15843405 "DO"] synonym: "Salonen-Herva-Norio syndrome" EXACT [] xref: EFO:1000033 xref: GARD:6683 xref: MESH:C536079 xref: MIM:PS236680 xref: MONDO:0006037 xref: ORDO:2189 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10908 ! hydrocephalus is_a: DOID:1148 ! polydactyly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0050781 name: Ogden syndrome def: "A syndrome characterized by postnatal growth failure, severely delayed psychomotor development, variable dysmorphic features, and hypotonia and has_material_basis_in X-linked recessive or X-linked dominant mutation in the NAA10 gene on chromosome Xq28. (DO)" [https://en.wikipedia.org/wiki/Ogden_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21700266 "DO"] synonym: "N-alpha-acetyltransferase" EXACT [] synonym: "NATD" EXACT [] synonym: "N-terminal acetyltransferase deficiency" EXACT [] synonym: "OGDNS" EXACT [] synonym: "X-linked malformation and infantile lethality syndrome" EXACT [] xref: MIM:300855 xref: NCI:C188215 xref: ORDO:276432 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9003648 ! N Acetyltransferase Deficiency is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0050782 name: Zollinger-Ellison syndrome def: "A syndrome that is characterized by the development of a one or more tumors (gastrinoma) in the pancreas, duodenum, or both that secrete excessive levels of gastrin, a hormone that stimulates production of acid by the stomach. (DO)" [http://en.wikipedia.org/wiki/Zollinger-Ellison_Syndrome "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/360/viewAbstract "DO", https://www.ncbi.nlm.nih.gov/pubmed/28949124 "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/zollinger-ellison-syndrome "DO"] synonym: "EFO:0007549" EXACT [] xref: EFO:0007549 xref: GARD:7918 xref: ICD10CM:E16.4 xref: MESH:D015043 xref: NCI:C3453 is_a: DOID:750 ! peptic ulcer disease is_a: DOID:76 ! stomach disease is_a: DOID:9006730 ! Paraneoplastic Endocrine Syndromes is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:0050783 name: secondary progressive multiple sclerosis def: "A multiple sclerosis that is characterized by a worsening of disability, rather than by relapses followed by recovery, which progressively worsens until a steady progression of disability replaces the cycles of attacks. (DO)" [http://www.mayoclinic.org/multiple-sclerosis/types.html "DO", http://www.mssociety.org.uk/what-is-ms/types-of-ms/secondary-progressive-spms "DO"] synonym: "chronic progressive multiple sclerosis" EXACT [] synonym: "Secondary-progressive MS" EXACT [] synonym: "SPMS" EXACT [] xref: EFO:0003840 xref: EFO:0008522 is_a: DOID:2377 ! multiple sclerosis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050784 name: primary progressive multiple sclerosis def: "A multiple sclerosis that is characterized by steady worsening of neurologic functioning, without any distinct relapses or periods of remission. The rate of progression may vary over time, with occasional plateaus or temporary improvements, but the progression is continuous. (DO)" [http://www.mayoclinic.org/multiple-sclerosis/types.html "DO", http://www.nationalmssociety.org/about-multiple-sclerosis/progressive-ms/primary-progressive-ms/index.aspx "DO"] synonym: "chronic progressive multiple sclerosis" EXACT [] synonym: "PPMS" EXACT [] synonym: "primary-progressive MS" EXACT [] synonym: "progressive remittent multiple sclerosis" EXACT [] xref: EFO:0003840 xref: EFO:0008520 xref: MESH:D020528 is_a: DOID:2377 ! multiple sclerosis [Term] id: DOID:0050785 name: progressive relapsing multiple sclerosis def: "A multiple sclerosis that is characterized by steadily worsening symptoms and attacks during periods of remission with disease progression from the onset. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35400704/ "DO"] synonym: "PRMS" EXACT [] synonym: "progressive-relapsing MS" EXACT [] xref: EFO:0003840 is_a: DOID:2377 ! multiple sclerosis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0050786 name: iridogoniodysgenesis syndrome def: "An iris disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene. (DO)" [http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome "DO", http://rarediseases.info.nih.gov/gard/3026/disease/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19175065 "DO"] synonym: "IGDS" EXACT [] synonym: "iridogoniodysgenesis" EXACT [] xref: MONDO:0011119 xref: ORDO:98634 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:240 ! iris disease is_a: DOID:9008296 ! Eye Abnormalities created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050787 name: juvenile polyposis syndrome alt_id: MIM:174900 def: "A gastrointestinal system disease that is characterized by predisposition to hamartomatous benign polyps in the gastrointestinal tract, specifically in the stomach, small intestine, colon, and rectum. (DO)" [http://ghr.nlm.nih.gov/condition/juvenile-polyposis-syndrome "DO", http://www.cancer.net/cancer-types/juvenile-polyposis-syndrome "DO", http://www.ncbi.nlm.nih.gov/books/NBK1469/ "DO"] synonym: "BMPR1A-related juvenile polyposis" EXACT [] synonym: "familial polyposis of entire gastrointestinal tract" EXACT [] synonym: "GENERALIZED JUVENILE POLYPOSIS/JUVENILE POLYPOSIS COLI" EXACT [] synonym: "JIP" EXACT [] synonym: "JPS" EXACT [] synonym: "juvenile intestinal polyposis" EXACT [] synonym: "Juvenile Polyp" RELATED [] synonym: "JUVENILE POLYPOSIS" EXACT [] synonym: "JUVENILE POLYPOSIS COLI" NARROW [] synonym: "Juvenile Polyposis, Infantile" EXACT [] synonym: "Juvenile Polyposis Of Infancy" EXACT [] synonym: "juvenile polyposis of stomach" EXACT [] synonym: "PJI" EXACT [] synonym: "SMAD4-related juvenile polyposis" EXACT [] xref: EFO:1000310 xref: GARD:3065 xref: MESH:C537702 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6225 ! Cronkhite-Canada syndrome is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0050788 name: proximal symphalangism def: "A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness. (DO)" [http://rarediseases.info.nih.gov/gard/8182/cushings-symphalangism/resources/1 "DO"] synonym: "Cushing's symphalangism" EXACT [] synonym: "Cushing symphalangism" EXACT [] synonym: "hereditary absence of proximal interphalangeal joints" EXACT [] synonym: "hereditary absence of the proximal interphalangeal joints" EXACT [] synonym: "Strasburger-Hawkins-Eldridge-Hargrave-McKusick syndrome" EXACT [] synonym: "Strasburger-Hawkins-Eldridge syndrome" EXACT [] synonym: "SYMPHALANGISM AFFECTING THE PROXIMAL PHALANX OF THE 4TH FINGER" NARROW [] synonym: "Vessel's syndrome" EXACT [] xref: GARD:8182 xref: MESH:C536223 xref: MIM:PS185800 xref: ORDO:3250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080001 ! bone disease is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy [Term] id: DOID:0050789 name: tarsal-carpal coalition syndrome def: "A dysostosis that is characterized by fusion of the carpals, tarsals, and phalanges, short first metacarpals causing brachydactyly; and humeroradial fusion. (DO)" [http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22326510 "DO"] synonym: "NOG-Related-Symphalangism Spectrum Disorder" EXACT [] synonym: "synostosis of talus and calcaneus with short stature" RELATED [] synonym: "TCC" EXACT [] xref: GARD:9225 xref: MESH:C536943 xref: MIM:186570 xref: MONDO:0008521 xref: ORDO:1412 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:11971 ! synostosis is_a: DOID:227 ! ankylosis is_a: DOID:2742 ! auditory system disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9834 ! hyperopia [Term] id: DOID:0050790 name: fibular hypoplasia and complex brachydactyly alt_id: MIM:228900 def: "An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. (DO)" [https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/16222676 "DO"] synonym: "acromesomelic dysplasia 2B" EXACT [] synonym: "AMD2B" EXACT [] synonym: "Du Pan syndrome" EXACT [] xref: MESH:C537931 xref: ORDO:2639 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0050791 name: persistent Mullerian duct syndrome alt_id: MIM:261550 alt_id: OMIA:000791 def: "A pseudohermaphroditism that is characterized by the persistence of Mullerian duct derivatives (i.e. uterus, cervix, fallopian tubes and upper two thirds of vagina) in a phenotypically and karyotypically male. (DO)" [http://ghr.nlm.nih.gov/condition/persistent-mullerian-duct-syndrome "DO", http://omim.org/entry/261550?search=261550&highlight=261550 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2856 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20352001 "DO"] synonym: "AMHR2-RELATED CONDITION" EXACT [] synonym: "AMH-RELATED CONDITION" NARROW [] synonym: "FEMALE GENITAL DUCTS IN OTHERWISE NORMAL MALE" EXACT [] synonym: "hernia uteri inguinale" EXACT [] synonym: "Persistent M?llerian Duct Syndrome" EXACT [] synonym: "persistent Muellerian duct syndrome" EXACT [] synonym: "Persistent Mullerian duct syndrome, type I" NARROW [] synonym: "Persistent Mullerian duct syndrome, type II" NARROW [] synonym: "Persistent mullerian duct syndrome, types 1 and 2" EXACT [] synonym: "persistent Mullerian duct syndrome, types I and II" EXACT [] synonym: "persistent oviduct syndrome" EXACT [] synonym: "PMDS" EXACT [] synonym: "pseudohermaphroditism, male internal" EXACT [] xref: GARD:8435 xref: MESH:C536665 xref: MONDO:0009857 xref: NCI:C120188 xref: ORDO:2856 is_a: DOID:15 ! reproductive system disease is_a: DOID:225 ! syndrome is_a: DOID:3765 ! pseudohermaphroditism is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:0050792 name: multiple cutaneous and mucosal venous malformations alt_id: MIM:600195 def: "A vein disease that is characterized by multiple bluish cutaneous or mucosal venous lesions that has_material_basis_in heterozygous mutation in the TEK gene on chromosome 9p21. (DO)" [http://omim.org/entry/600195?search=600195&highlight=600195 "DO", https://medlineplus.gov/genetics/condition/multiple-cutaneous-and-mucosal-venous-malformations/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301733 "DO"] synonym: "cutaneomucosal venous malformation" EXACT [] synonym: "CUTANEOUS VENOUS MALFORMATION" NARROW [] synonym: "mucocutaneous venous malformations" EXACT [] synonym: "SEGMENTAL UNDERGROWTH ASSOCIATED WITH VENOUS MALFORMATION WITHOUT CAPILLARY COMPONENT" NARROW [] synonym: "TEK-RELATED CONDITION" BROAD [] synonym: "VMCM" EXACT [] synonym: "VMCM1" EXACT [] xref: MESH:C563977 xref: ORDO:2451 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11294 ! arteriovenous malformation is_a: DOID:37 ! skin disease is_a: DOID:866 ! vein disease [Term] id: DOID:0050793 name: short QT syndrome def: "A heart conduction disease that is characterized by heart arrhythmia defined as a short QT interval on an EKG (less than 300 ms) that does not significantly change with heart rate, tall and peaked T waves, and a structurally normal heart. (DO)" [http://en.wikipedia.org/wiki/Short_QT_syndrome "DO", http://ghr.nlm.nih.gov/condition/short-qt-syndrome "DO", http://omim.org/entry/609620?search=SHORT%20QT%20SYNDROME&highlight=syndromic%20short%20qt%20syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=51083 "DO"] synonym: "SHORT QT SYNDROME 4" NARROW [] synonym: "SHORT QT SYNDROME 5" NARROW [] xref: EFO:0004690 xref: MESH:C580439 xref: MIM:PS609620 xref: MONDO:0000453 xref: NCI:C71060 is_a: DOID:10273 ! heart conduction disease is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0050794 name: multiple synostoses syndrome def: "A dysostosis that is characterized by characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2706969/ "DO"] xref: MIM:PS186500 xref: ORDO:3237 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050795 name: cone dystrophy def: "A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. (DO)" [http://en.wikipedia.org/wiki/Cone_dystrophy "DO", http://rarediseases.org/rare-disease-information/rare-diseases/byID/847/viewAbstract "DO", http://www.ncbi.nlm.nih.gov/books/NBK1418/ "DO"] synonym: "retinal cone dystrophy" EXACT [] xref: GARD:11897 xref: MESH:D000077765 is_a: DOID:5679 ! retinal disease created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050796 name: achalasia microcephaly syndrome alt_id: MIM:200450 def: "A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). (DO)" [http://omim.org/entry/200450 "DO", http://rarediseases.info.nih.gov/gard/456/disease/resources/1 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=929&lng=EN "DO"] synonym: "achalasia microcephaly" EXACT [] xref: GARD:456 xref: MESH:C536010 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9164 ! achalasia [Term] id: DOID:0050797 name: peroxisomal acyl-CoA oxidase deficiency alt_id: MIM:264470 def: "A peroxisomal disease that is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy that has_material_basis_in homozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO)" [http://www.omim.org/entry/264470 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2971 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11815777 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17458872 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18536048 "DO"] synonym: "ACOX1-RELATED CONDITION" BROAD [] synonym: "ACOX1-RELATED DISORDER" BROAD [] synonym: "peroxisomal acyl-coenzyme A oxidase" EXACT [] synonym: "pseudoneonatal adrenoleukodystrophy" EXACT [] synonym: "straight-chain ACYL-COA oxidase deficiency" EXACT [] xref: GARD:4543 xref: MESH:C536662 xref: NCI:C170437 xref: ORDO:2971 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10588 ! adrenoleukodystrophy is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0050798 name: cerebral creatine deficiency syndrome def: "An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17603797 "DO", https://www.omim.org/entry/300352 "DO"] xref: MIM:PS300352 is_a: DOID:225 ! syndrome is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050799 name: guanidinoacetate methyltransferase deficiency alt_id: MIM:612736 def: "A cerebral creatine deficiency syndrome that is characterized by severe intellectual disability, seizures, speech problems and involuntary movements, has_material_basis_in homozygous or compound heterozygous mutation in the GAMT gene on chromosome 19p13. (DO)" [https://rarediseases.info.nih.gov/diseases/2578/guanidinoacetate-methyltransferase-deficiency "DO"] synonym: "CCDS2" EXACT [] synonym: "cerebral creatine deficiency syndrome 2" EXACT [] synonym: "creatine deficiency syndrome due to GAMT deficiency" EXACT [] synonym: "GAMT deficiency" EXACT [] synonym: "GAMT-RELATED CONDITION" EXACT [] xref: GARD:2578 xref: MESH:C537622 xref: NCI:C173468 is_a: DOID:0050798 ! cerebral creatine deficiency syndrome is_a: DOID:480 ! movement disease is_a: DOID:9005466 ! Language Development Disorders [Term] id: DOID:0050800 name: cerebral creatine deficiency syndrome 1 def: "A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17603797 "DO", https://www.omim.org/entry/300352 "DO"] synonym: "CCDS1" EXACT [] synonym: "creatine deficiency syndrome 1" EXACT [] synonym: "Creatine Deficiency, X-Linked" EXACT [] synonym: "Creatine Transporter Defect" EXACT [] synonym: "creatine transporter deficiency" EXACT [] synonym: "SLC6A8 deficiency" EXACT [] synonym: "SLC6A8-related creatine transporter deficiency" EXACT [] synonym: "X-linked creatine deficiency syndrome" EXACT [] synonym: "X-linked creatine transporter deficiency" EXACT [] synonym: "X-linked mental retardation with creatine transport deficiency" EXACT [] synonym: "X-linked mental retardation with seizures, short stature, and midface hypoplasia" EXACT [] xref: MESH:C535598 xref: MIM:300352 xref: MONDO:0010305 xref: NCI:C125665 xref: ORDO:52503 is_a: DOID:0050798 ! cerebral creatine deficiency syndrome is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0050801 name: androgenic alopecia def: "An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. (DO)" [https://ghr.nlm.nih.gov/condition/androgenetic-alopecia "DO"] synonym: "alopecia androgenetica, male pattern baldness" EXACT [] synonym: "androgenetic alopecia" EXACT [] xref: EFO:0004191 xref: GARD:9269 is_a: DOID:987 ! alopecia [Term] id: DOID:0050802 name: Ehlers-Danlos syndrome spondylodysplastic type 2 def: "An Ehlers-Danlos syndrome that is characterized by aged appearance, developmental delay, short stature, craniofacial disproportion, generalized osteopenia, defective wound healing, hypermobile joints, hypotonic muscles, and loose but elastic skin and has_material_basis_in compound heterozygous mutation in the B3GALT6 gene. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001468.htm "DO"] synonym: "EDSP2" EXACT [] synonym: "EDSSPD2" EXACT [] synonym: "Ehlers-Danlos syndrome, progeroid form" BROAD [] synonym: "Ehlers-Danlos syndrome progeroid type" EXACT [] synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT [] synonym: "progeroid variant of Ehlers-Danlos syndrome" BROAD [] xref: MIM:615349 xref: ORDO:75496 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0050803 name: glioblastoma classical subtype def: "A glioblastoma that is characterized by abnormally high levels of epidermal growth factor receptor and the absence of p53 mutations. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", http://www.plosone.org/article/info%3Adoi%2F10.1371%2Fjournal.pone.0045475 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"] is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050804 name: glioblastoma proneural subtype def: "A glioblastoma that is characterized by IDH1 and p53 mutations and Platelet Derived Growth Factor A amplification. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"] is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050805 name: glioblastoma mesenchymal subtype def: "A glioblastoma that is characterized by the most frequent number of mutation of the Neurofibromin 1 gene. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"] is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050806 name: glioblastoma neural subtype def: "A glioblastoma that is characterized by the expression of several gene types that are also typical of the brain's normal, noncancerous nerve cells, or neurons. (DO)" [http://cancergenome.nih.gov/researchhighlights/researchbriefs/foursubtypes "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"] is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050807 name: Kahrizi syndrome alt_id: MIM:612713 def: "A syndrome that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has_material_basis_in mutation in the SRD5A3 gene. (DO)" [http://omim.org/entry/612713?search=Kahrizi%20syndrome&highlight=syndromic%20kahrizi%20syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=168972 "DO"] synonym: "intellectual disability-cataract-coloboma-kyphosis syndrome" EXACT [] synonym: "intellectual disability, Kahrizi type" EXACT [] synonym: "KHRZ" EXACT [] synonym: "mental retardation, cataract, coloboma, and kyphosis, autosomal recessive" EXACT [] xref: MESH:C567196 xref: ORDO:168972 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:4667 ! kyphosis is_a: DOID:83 ! cataract is_a: DOID:9001487 ! Facies [Term] id: DOID:0050809 name: mucopolysaccharidosis IX alt_id: MIM:601492 def: "A mucopolysaccharidosis characterized by a deficiency in hyaluronidase. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_VII "DO"] synonym: "DEFICIENCY OF HYALURONOGLUCOSAMINIDASE" EXACT [] synonym: "hyaluronidase deficiency" EXACT [] synonym: "MPS9" EXACT [] synonym: "MPS IX" EXACT [] synonym: "mucopolysaccharidosis type IX" EXACT [] xref: MESH:C563209 xref: NCI:C129073 xref: ORDO:67041 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:0050810 name: biotin deficiency def: "A nutritional deficiency disease that is characterized by thinning of the hair (often with loss of hair color), and red scaly rash around the eyes, nose, and mouth. (DO)" [http://en.wikipedia.org/wiki/Biotin_deficiency "DO", http://www.nlm.nih.gov/medlineplus/druginfo/natural/313.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK547751/ "DO"] synonym: "B7 deficiency" EXACT [] xref: MESH:C531633 is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:856 ! biotinidase deficiency [Term] id: DOID:0050811 name: congenital adrenal hyperplasia def: "A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. (DO)" [http://omim.org/entry/201710 "DO", http://www.genome.jp/dbget-bin/www_bget?ds\:H00216 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=418.0 "DO"] synonym: "adrenal hypoplasia congenita" EXACT [] synonym: "congenital adrenal hyperplasias" EXACT [] synonym: "congenital lipoid adrenal hyperplasia" EXACT [] synonym: "lipoid CAH" EXACT [] xref: GARD:1465 xref: GARD:1467 xref: ICD10CM:E25 xref: ICD9CM:255.2 xref: MESH:D000312 xref: ORDO:418 is_a: DOID:0080015 ! physical disorder is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:9002128 ! Adrenogenital Syndrome is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0050812 name: spondyloepimetaphyseal dysplasia, Pakistani type alt_id: MESH:C567552 alt_id: MIM:612847 def: "A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. (DO)" [http://omim.org/entry/612847 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282 "DO"] synonym: "BCYM4" EXACT [] synonym: "brachyolmia type 4 with mild epiphyseal and metaphyseal changes" EXACT [] synonym: "SEMD, Pakistani type" EXACT [] synonym: "spondylodysplasia and premature pubarche" EXACT [] xref: MESH:C567551 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007284 ! Precocious Puberty [Term] id: DOID:0050813 name: spondyloepiphyseal dysplasia with congenital joint dislocations alt_id: MIM:143095 def: "A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints. (DO)" [http://www.uniprot.org/diseases/DI-01753 "DO"] synonym: "CDMD" EXACT [] synonym: "chondrodysplasia with multiple dislocations" EXACT [] synonym: "CHST3-related skeletal dysplasia" EXACT [] synonym: "HSD" EXACT [] synonym: "humero-spinal dysostosis" EXACT [] synonym: "humerospinal dysostosis" EXACT [] synonym: "humero-spinal dysostosis with congenital heart disease" EXACT [] synonym: "Kozlowski Celermajer Tink syndrome" EXACT [] synonym: "Omani Type" EXACT [] synonym: "Omani type of spondyloepiphyseal dysplasia" EXACT [] synonym: "SEDCJD" EXACT [] synonym: "SED, Omani type" EXACT [] synonym: "SED with luxations, CHST3 type" EXACT [] synonym: "spondyloepiphyseal dysplasia" EXACT [] synonym: "spondyloepiphyseal dysplasia, CHST3-related" EXACT [] synonym: "spondyloepiphyseal dysplasia, Omani type" EXACT [] xref: MESH:C535789 is_a: DOID:0080015 ! physical disorder is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0050814 name: temtamy preaxial brachydactyly syndrome alt_id: MIM:605282 def: "A syndrome that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has_material_basis_in homozygous mutation in the CHSY1 gene. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363417 "DO", http://www.sciencedirect.com/science/article/pii/S1769721213002449 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21129728 "DO"] synonym: "Preaxial brachydactyly syndrome, Temtamy type" EXACT [] synonym: "TPBS" EXACT [] xref: GARD:9679 xref: MESH:C536958 xref: ORDO:363417 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9008681 ! Deafness is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0050816 name: urofacial syndrome def: "A syndrome that is characterized by inverted facial expressions in association with a severe and early-onset form of dysfunctional urinary voiding. (DO)" [http://en.wikipedia.org/wiki/Urofacial_syndrome "DO", http://omim.org/entry/236730 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=2704 "DO"] synonym: "hydronephrosis-inverted smile" EXACT [] synonym: "hydronephrosis with peculiar facial expression" EXACT [] synonym: "Inverted smile and occult neuropathic bladder" EXACT [] synonym: "inverted smile-neurogenic bladder" EXACT [] synonym: "Ochoa syndrome" EXACT [] synonym: "partial facial palsy with urinary abnormalities" EXACT [] synonym: "UFS" EXACT [] synonym: "urofacial Ochoa's syndrome" EXACT [] xref: GARD:2781 xref: MESH:C536480 xref: MIM:PS236730 xref: ORDO:2704 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:18 ! urinary system disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies [Term] id: DOID:0050817 name: Stargardt disease def: "An age related macular degeneration that is characterized by progressive vision loss usually to the point of legal blindness. (DO)" [http://en.wikipedia.org/wiki/Stargardt_disease "DO"] synonym: "juvenile macular degeneration" EXACT [] synonym: "Stargardt's disease" EXACT [] synonym: "Stargardt macular degeneration" EXACT [] synonym: "STGD" EXACT [] xref: GARD:181 xref: MESH:D000080362 xref: NCI:C85078 xref: ORDO:827 is_a: DOID:10871 ! age related macular degeneration created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0050818 name: transcobalamin II deficiency def: "A vitamin B12 deficiency that is characterized by a lack of vitamin B12 intestinal absorption resulting from a deficiency in the B12 transport protein TCII. (DO)" [http://omim.org/entry/275350 "DO", https://www.orpha.net/data/patho/GB/uk-TCII.pdf "DO"] synonym: "TC II DEFICIENCY" EXACT [] synonym: "TCN2 DEFICIENCY" EXACT [] xref: MIM:275350 xref: NCI:C142806 xref: RDO:0008510 is_a: DOID:0050731 ! vitamin B12 deficiency [Term] id: DOID:0050820 name: atrioventricular block def: "A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. (DO)" [http://en.wikipedia.org/wiki/Atrioventricular_block "DO"] synonym: "Atrioventricular Blocks" EXACT [] synonym: "Atrioventricular Conduction Block" EXACT [] synonym: "Atrioventricular Conduction Blocks" EXACT [] synonym: "AV block" EXACT [] synonym: "AV blocks" EXACT [] synonym: "AV Block Third Degree Adverse Event" RELATED [] xref: EFO:0005305 xref: ICD10CM:I44.3 xref: ICD9CM:426.10 xref: MESH:D054537 xref: NCI:C26703 is_a: DOID:10273 ! heart conduction disease is_a: DOID:9003163 ! Heart Block [Term] id: DOID:0050821 name: first-degree atrioventricular block def: "An atrioventricular block that is characterized by prolonged PR interval on electrocardiogram caused by delayed conduction from atria to ventricles through the atrioventricular node. (DO)" [https://en.wikipedia.org/wiki/First-degree_atrioventricular_block "DO"] xref: RDO:9000763 is_a: DOID:0050820 ! atrioventricular block created_by: rgd creation_date: 2016-03-10T00:00:00Z [Term] id: DOID:0050822 name: second-degree atrioventricular block def: "An atrioventricular block that is characterized by progressive prolongation of the PR interval on consecutive beats followed by a blocked P wave on electrocardiogram or intermittently non-conducted P waves not preceded by PR changes on electrocardiogram caused by a conduction block between the atria and the ventricles through the atrioventricular node. (DO)" [https://en.wikipedia.org/wiki/Second-degree_atrioventricular_block "DO"] synonym: "idiopathic second-degree atrioventricular block" EXACT [] synonym: "second-degree heart block" EXACT [] xref: RDO:9003341 is_a: DOID:0050820 ! atrioventricular block created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050823 name: third-degree atrioventricular block def: "An atrioventricular block that is characterized by bradycardia, hypotension, hemodynamic instability and complete dissociation between P waves and QRS complexes on electrocardiogram caused when conduction fails to propagate from atria to ventricles. (DO)" [https://en.wikipedia.org/wiki/Third-degree_atrioventricular_block "DO"] synonym: "complete AV block" EXACT [] xref: RDO:9003343 is_a: DOID:0050820 ! atrioventricular block created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050824 name: sinoatrial node disease def: "A heart conduction disease that is characterized by dysfunction of the impulse-generating (pacemaker) tissue located in the right atrium of the heart which generates normal sinus rhythm. (DO)" [http://en.wikipedia.org/wiki/Sinoatrial_node "DO"] synonym: "SA node" EXACT [] synonym: "sinuatrial node" EXACT [] xref: RDO:9002665 is_a: DOID:10273 ! heart conduction disease is_a: DOID:66 ! muscle tissue disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050825 name: endocardium disease def: "A heart disease that is located_in the innermost layer of tissue that lines the chambers of the heart. (DO)" [http://en.wikipedia.org/wiki/Endocardium "DO"] is_a: DOID:114 ! heart disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050826 name: tricuspid valve disease def: "A heart valve disease that is characterized by valvular insufficiency or valvular stenosis, located_in tricuspid valve between the right atrium and right ventricle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5494422/ "DO"] synonym: "disease of tricuspid valve" EXACT [] synonym: "RH. tricuspid valve disease" EXACT [] synonym: "rheumatic disease of tricuspid valve" EXACT [] synonym: "rheumatic tricuspid valve disease" EXACT [] synonym: "tricuspid disease" EXACT [] xref: EFO:0009568 xref: ICD10CM:I07 xref: ICD9CM:397.0 is_a: DOID:4079 ! heart valve disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0050827 name: rheumatic heart disease def: "A heart valve disease that is characterized by repeated inflammation with fibrinous repair caused by an autoimmune reaction to Group A beta-hemolytic streptococci (GAS) that results in valvular damage. The cardinal anatomic changes of the valve include leaflet thickening, commissural fusion, and shortening and thickening of the tendinous cords. (DO)" [http://en.wikipedia.org/wiki/Rheumatic_heart_disease "DO"] synonym: "Bouillaud's Disease" EXACT [] synonym: "Bouillaud disease" EXACT [] synonym: "Bouillauds Disease" EXACT [] synonym: "rheumatic carditis" EXACT [] synonym: "rheumatic heart diseases" EXACT [] xref: EFO:1001161 xref: MESH:D012214 is_a: DOID:1586 ! rheumatic fever is_a: DOID:4079 ! heart valve disease [Term] id: DOID:0050828 name: artery disease def: "A vascular disease that is located_in an artery. (DO)" [http://en.wikipedia.org/wiki/Artery#Pathology "DO"] xref: MIM:108000 is_a: DOID:178 ! vascular disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050829 name: pericardium disease def: "A cardiovascular system disease that is located_in the fibrous sac surrounding the heart. (DO)" [http://en.wikipedia.org/wiki/Pericardium "DO"] xref: MONDO:0000474 is_a: DOID:0060118 ! thoracic disease is_a: DOID:114 ! heart disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050830 name: peripheral artery disease def: "An artery disease that is characterized by build up of plaque in the arteries that carry blood to your head, organs, and limbs. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000170.htm "DO", https://www.nhlbi.nih.gov/health/health-topics/topics/pad/ "DO"] synonym: "peripheral arterial disease" EXACT [] synonym: "peripheral arterial diseases" EXACT [] synonym: "peripheral artery diseases" EXACT [] xref: EFO:0004265 xref: MESH:D058729 is_a: DOID:0050828 ! artery disease is_a: DOID:1936 ! atherosclerosis is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:0050831 name: familial encephalopathy with neuroserpin inclusion bodies alt_id: MIM:604218 def: "A neurodegenerative disease that is characterized by intraneuronal inclusions of mutant neuroserpin resulting in progressive encephalopathy, dementia and seizures and has_material_basis_in a mutation in the SERPINI1 gene inherited in an in autosomal dominant pattern. (DO)" [http://ghr.nlm.nih.gov/condition/familial-encephalopathy-with-neuroserpin-inclusion-bodies "DO", http://www.jbc.org/content/277/19/17367 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1238/viewFullReport "DO"] synonym: "familial dementia with neuroserpin inclusion bodies" EXACT [] synonym: "familial encephalopathy with Collins bodies" EXACT [] synonym: "FENIB" EXACT [] xref: GARD:10037 xref: MESH:C536841 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:0050832 name: pyrimidine metabolic disorder def: "An inherited metabolic disorder involving dysfunction of pyrimidine metabolism. (DO)" [http://en.wikipedia.org/wiki/Pyrimidine_metabolism "DO"] is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050833 name: orotic aciduria alt_id: MIM:258900 def: "A pyrimidine metabolic disorder that is characterized by an excessive secretion of orotic acid in urine. (DO)" [http://en.wikipedia.org/wiki/Orotic_aciduria "DO", http://www.omim.org/entry/258900 "DO"] synonym: "hereditary orotic aciduria" EXACT [] synonym: "hereditary orotic aciduria, type 1" EXACT [] synonym: "OAWA" NARROW [] synonym: "OPRT AND ODC DEFICIENCY" EXACT [] synonym: "Orotate phosphoribosyltransferase and omp decarboxylase deficiency" EXACT [] synonym: "OROTATE PHOSPHORIBOSYLTRANSFERASE AND OROTIDYLIC DECARBOXYLASE DEFICIENCY" EXACT [] synonym: "Oroticaciduria 1" EXACT [] synonym: "OROTIC ACIDURIA I" EXACT [] synonym: "Orotidylic pyrophosphorylase and orotidylic decarboxylase deficiency" EXACT [] synonym: "UMPS DEFICIENCY OROTIC ACIDURIA WITHOUT MEGALOBLASTIC ANEMIA" NARROW [] synonym: "UMPS-RELATED CONDITION" EXACT [] synonym: "UMP SYNTHASE DEFICIENCY" EXACT [] synonym: "Uridine monophosphate synthase deficiency" EXACT [] synonym: "uridine monophosphate synthetase deficiency" EXACT [] xref: MESH:C537136 xref: NCI:C98944 xref: ORDO:30 is_a: DOID:0050832 ! pyrimidine metabolic disorder is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:0050834 name: CHARGE syndrome alt_id: MIM:214800 def: "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. (DO)" [http://en.wikipedia.org/wiki/CHARGE_syndrome "DO", http://ghr.nlm.nih.gov/condition/charge-syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract "DO"] synonym: "CHARGE association" EXACT [] synonym: "CHARGE Association--Coloboma, Heart Anomaly, Choanal Atresia, Retardation, Genital and Ear Anomalies" EXACT [] synonym: "CHARGE Associations" EXACT [] synonym: "CHARGE Syndromes" EXACT [] synonym: "CHD7-RELATED CONDITION" BROAD [] synonym: "familial CHARGE syndrome" EXACT [] synonym: "familial CHARGE syndromes" EXACT [] synonym: "Hall Hittner syndrome" EXACT [] synonym: "HHS" EXACT [] xref: GARD:29 xref: MESH:D058747 xref: NCI:C75100 xref: ORDO:138 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050835 name: generalized dystonia def: "A dystonia that affects most or all of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] synonym: "fragments of torsion dystonia" EXACT [] synonym: "idiopathic familial dystonia" EXACT [] synonym: "idiopathic non-familial dystonia" EXACT [] synonym: "symptomatic torsion dystonia" EXACT [] xref: ICD10CM:G24.2 xref: ICD9CM:333.6 xref: ICD9CM:333.8 xref: NCI:C34564 xref: NCI:C35437 xref: NCI:C35438 xref: NCI:C35527 is_a: DOID:543 ! dystonia created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0050836 name: focal dystonia alt_id: MIM:611284 def: "A dystonia that is localized to a specific part of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] synonym: "focal dystonias" EXACT [] synonym: "focal dystonia, task-specific" EXACT [] synonym: "FTSD" EXACT [] synonym: "Musician's Dystonia" EXACT [] synonym: "occupational cramp" EXACT [] synonym: "occupational dystonia" EXACT [] synonym: "task-specific dystonia" EXACT [] xref: GARD:6458 xref: MESH:C566973 is_a: DOID:543 ! dystonia [Term] id: DOID:0050837 name: multifocal dystonia def: "A dystonia that involves two or more unrelated body parts. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] xref: RDO:9002844 is_a: DOID:543 ! dystonia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050838 name: segmental dystonia def: "A dystonia that affects two or more adjacent parts of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] is_a: DOID:543 ! dystonia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050839 name: anismus def: "A focal dystonia that is characterized by the failure of the pelvic floor muscles to relax during defecation. (DO)" [https://en.wikipedia.org/wiki/Anismus "DO"] xref: RDO:9003190 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050840 name: cervical dystonia def: "A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. (DO)" [http://en.wikipedia.org/wiki/Spasmodic_torticollis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1155/ "DO"] synonym: "intermittent torticollis" EXACT [] synonym: "Psychogenic Torticollis" EXACT [] synonym: "Spasmodic Torticollis" EXACT [] synonym: "Torticollis" EXACT [] synonym: "wryneck" EXACT [] xref: GARD:10668 xref: MESH:D014103 is_a: DOID:0050836 ! focal dystonia [Term] id: DOID:0050841 name: focal hand dystonia def: "A focal dystonia that affects a single muscle or small group of muscles in the hand resulting from involuntary muscular contractions. (DO)" [http://en.wikipedia.org/wiki/Dystonia "DO"] synonym: "organic writer's cramp" EXACT [] xref: ICD9CM:333.84 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0050842 name: oculogyric crisis def: "A focal dystonia that is characterized by a prolonged involuntary upward deviation of the eyes. (DO)" [http://en.wikipedia.org/wiki/Oculogyric_crisis "DO"] xref: RDO:9003198 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050843 name: oromandibular dystonia def: "A focal dystonia that is characterized by distortions of the mouth and tongue. (DO)" [http://en.wikipedia.org/wiki/Oromandibular_dystonia "DO"] xref: RDO:9003200 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050844 name: spasmodic dystonia def: "A focal dystonia that involves the muscles that control the vocal cords, resulting in strained or breathy speech. (DO)" [http://www.nidcd.nih.gov/health/voice/pages/spasdysp.aspx "DO"] synonym: "laryngeal dystonia" EXACT [] is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050845 name: cranio-facial dystonia def: "A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] xref: RDO:9003204 is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050846 name: hemidystonia def: "A multifocal dystonia that involves the arm and leg on the same side of the body. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] is_a: DOID:0050837 ! multifocal dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050847 name: sleep apnea def: "A sleep disorder characterized by repeated cessation and commencing of breathing that repeatedly disrupts sleep. (DO)" [http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2765300/ "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ "DO"] synonym: "hypersomnia with periodic respiration" EXACT [] synonym: "sleep apneas" EXACT [] synonym: "sleep apnea syndrome" EXACT [] synonym: "sleep disordered breathing" EXACT [] synonym: "sleep hypopnea" EXACT [] xref: EFO:0003877 xref: ICD9CM:780.57 xref: MESH:D012891 xref: NCI:C26884 is_a: DOID:9000166 ! Intrinsic Sleep Disorders is_a: DOID:9004992 ! Apnea [Term] id: DOID:0050848 name: obstructive sleep apnea alt_id: MIM:107650 def: "A sleep apnea that is characterized by repeated collapse and obstruction of the upper airway during sleep, which results in reduced airflow (hypopnea) or complete airflow cessation (apnea), oxygen desaturation, and arousals from sleep. (DO)" [http://en.wikipedia.org/wiki/Obstructive_sleep_apnea "DO", http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000811.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK63555/#executivesummary.s1 "DO"] synonym: "obstructive sleep apneas" EXACT [] synonym: "obstructive sleep apnea syndrome" EXACT [] synonym: "OSAHS" EXACT [] synonym: "Sleep Apnea Hypopnea Syndrome" EXACT [] synonym: "upper airway resistance sleep apnea syndrome" EXACT [] xref: EFO:0003918 xref: ICD10CM:G47.33 xref: ICD9CM:327.23 xref: MESH:D020181 xref: NCI:C116337 xref: NCI:C27168 is_a: DOID:0050847 ! sleep apnea [Term] id: DOID:0050849 name: periampullary adenoma def: "An ampulla of Vater neoplasm that is characterized by glandular dysplastic lesion having pre-malignant potential. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244941/ "DO"] synonym: "periampullary adenoma, somatic" EXACT [] is_a: DOID:10022 ! ampulla of Vater benign neoplasm is_a: DOID:657 ! adenoma created_by: slaulederkind creation_date: 2010-03-19T00:00:00Z [Term] id: DOID:0050850 name: diabetic encephalopathy def: "A brain disease that is characterized by functional impairment of cognition, cerebral signal conduction, neurotransmission and synaptic plasticity, and underlying structural pathology associated with diabetes. (DO)" [http://link.springer.com/chapter/10.1007%2F978-1-59745-311-0_11#page-1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20798963 "DO"] synonym: "diabetic encephalopathies" EXACT [] is_a: DOID:9002661 ! Diabetes Complications is_a: DOID:936 ! brain disease [Term] id: DOID:0050851 name: glomerulosclerosis def: "A glomerulonephritis that is characterized by hardening of the glomerulus in the kidney. (DO)" [http://en.wikipedia.org/wiki/Glomerulosclerosis "DO"] is_a: DOID:0050855 ! renal fibrosis is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:0050852 name: limb ischemia def: "An ischemia that is characterized by low blood supply to tissues in the limb due to interruption in the arterial blood supply. (DO)" [https://en.wikipedia.org/wiki/Ischemia "DO"] is_a: DOID:326 ! ischemia [Term] id: DOID:0050853 name: chronic venous insufficiency def: "A venous insufficiency that is characterized by lower extremity swelling, hyperpigmentation, pruritus and venous ulceration caused by blood pooling in the veins. (DO)" [https://en.wikipedia.org/wiki/Chronic_venous_insufficiency "DO"] synonym: "Chronic Venous Disease" EXACT [] synonym: "Chronic Venous Insufficiencies" EXACT [] xref: EFO:0007940 xref: RDO:9000012 is_a: DOID:10128 ! venous insufficiency [Term] id: DOID:0050854 name: Muckle-Wells syndrome def: "A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11687797 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11992256 "DO"] synonym: "CAPS2" EXACT [] synonym: "cryopyrin-associated periodic syndrome 2" EXACT [] synonym: "MWS" EXACT [] synonym: "neutrophilic urticaria" EXACT [] synonym: "UDA syndrome" EXACT [] synonym: "urticaria-deafness-amyloidosis syndrome" EXACT [] xref: GARD:8472 xref: ICD10CM:M04.2 xref: MIM:191900 xref: NCI:C119054 xref: ORDO:575 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1555 ! urticaria is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes is_a: DOID:9008681 ! Deafness is_a: DOID:9120 ! amyloidosis [Term] id: DOID:0050855 name: renal fibrosis def: "A kidney disease that is characterized by progressive detrimental connective tissue deposition of the kidney parenchyma leading to deterioration of renal function. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2776335/ "DO"] synonym: "kidney fibrosis" EXACT [] xref: EFO:1001517 is_a: DOID:557 ! kidney disease is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:0050856 name: oppositional defiant disorder def: "A specific developmental disorder that is characterized by a pattern of angry mood, defiant behavior and vindictiveness in children and adolescents. (DO)" [https://en.wikipedia.org/wiki/Oppositional_defiant_disorder "DO"] is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:9009161 ! Attention Deficit and Disruptive Behavior Disorders [Term] id: DOID:0050857 name: Perrault syndrome def: "A syndrome that is characterized by sensorineural hearing loss and ovarian failure. (DO)" [http://ghr.nlm.nih.gov/gene/LARS2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23541340 "DO"] xref: GARD:2542 xref: MIM:PS233400 xref: ORDO:2855 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:225 ! syndrome is_a: DOID:9008681 ! Deafness created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0050858 name: Marshall-Smith syndrome alt_id: MIM:602535 def: "A syndrome that is characterized by advanced bone age, failure to thrive, respiratory problems, dysmorphic facial features, and variable mental retardation. (DO)" [http://en.wikipedia.org/wiki/Marshall%E2%80%93Smith_syndrome "DO", http://rarediseases.info.nih.gov/gard/6985/marshall-smith-syndrome/resources/1 "DO"] synonym: "MRSHSS" EXACT [] synonym: "NFIX-RELATED CONDITION" BROAD [] xref: GARD:6985 xref: MESH:C536026 xref: ORDO:561 is_a: DOID:0060857 ! septooptic dysplasia is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0050859 name: hemorrhagic cystitis def: "A cystitis that is characterized by dysuria, hematuria and hemorrhage located_in the lower urinary tract. (DO)" [https://en.wikipedia.org/wiki/Hemorrhagic_cystitis "DO"] is_a: DOID:1679 ! cystitis [Term] id: DOID:0050860 name: colorectal adenoma def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin and is located_in colon and located_in rectum. (DO)" [https://en.wikipedia.org/wiki/Colorectal_adenoma "DO"] synonym: "colonic adenoma recurrence, reduced risk of" RELATED [] synonym: "Colorectal Sessile Serrated Adenoma/Polyp" NARROW [] synonym: "EFO:0005406" EXACT [] xref: EFO:0005406 xref: EFO:1000197 xref: NCI:C5673 is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:657 ! adenoma is_a: DOID:9008443 ! Colorectal Neoplasms [Term] id: DOID:0050861 name: colorectal adenocarcinoma def: "A colorectal carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://cancergenome.nih.gov/cancersselected/colorectaladenocarcinoma "DO", http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "colorectal mucinous adenocarcinoma" NARROW [] synonym: "colorectal serrated adenocarcinoma" NARROW [] synonym: "EFO:0000365" EXACT [] xref: EFO:0000365 xref: EFO:0009361 xref: EFO:1000196 xref: NCI:C5105 is_a: DOID:0080199 ! colorectal carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:0050862 name: pyometritis def: "A uterine disease that is characterized by inflammation of the uterus and is associated with pus in the uterine cavity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16284801 "DO"] is_a: DOID:345 ! uterine disease is_a: DOID:9005889 ! Suppuration [Term] id: DOID:0050863 name: arteritic anterior ischemic optic neuropathy def: "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by damage to the medium-sized blood vessels supplying the optic nerves following temporal arteritis. (DO)" [https://en.wikipedia.org/wiki/Arteritic_anterior_ischemic_optic_neuropathy "DO"] is_a: DOID:12010 ! anterior ischemic optic neuropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0050864 name: non-arteritic anterior ischemic optic neuropathy def: "An anterior ischemic optic neuropathy that is characterized by near-complete vision loss caused by acute ischemic damage to the optic nerve due to non-inflammatory small vessel disease. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3721361/ "DO"] synonym: "AION" BROAD [] synonym: "anterior ischemic optic neuropathy, susceptibility to" RELATED [] synonym: "NAION" EXACT [] synonym: "NAION, SUSCEPTIBILITY TO" RELATED [] synonym: "non-arteritic AION" EXACT [] synonym: "non-arteritic anterior ischaemic optic neuropathy" EXACT [] synonym: "nonarteritic anterior ischaemic optic neuropathy" EXACT [] synonym: "nonarteritic anterior ischemic optic neuropathy" EXACT [] synonym: "nonarteritic anterior ischemic optic neuropathy, susceptibility to" RELATED [] xref: MIM:258660 is_a: DOID:12010 ! anterior ischemic optic neuropathy [Term] id: DOID:0050865 name: tongue squamous cell carcinoma def: "A head and neck squamous cell carcinoma that is located_in the tongue. (DO)" [http://en.wikipedia.org/wiki/Squamous_cell_carcinoma "DO"] synonym: "SCCT" EXACT [] xref: EFO:1000055 xref: NCI:C4648 xref: RDO:9000054 is_a: DOID:5520 ! head and neck squamous cell carcinoma is_a: DOID:8649 ! tongue cancer [Term] id: DOID:0050866 name: oral squamous cell carcinoma def: "An oral cavity cancer that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "EFO:0000199" EXACT [] synonym: "mouth squamous cell carcinoma" EXACT [] synonym: "OSCC" EXACT [] xref: EFO:0000199 xref: GARD:7263 xref: NCI:C132823 is_a: DOID:8618 ! oral cavity cancer is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma [Term] id: DOID:0050868 name: hepatocellular adenoma def: "A liver benign neoplasm that is located_in liver cells and that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [https://en.wikipedia.org/wiki/Hepatocellular_adenoma "DO"] synonym: "Benign Hepatoma" EXACT [] synonym: "benign hepatomas" EXACT [] synonym: "EFO:0000762" EXACT [] synonym: "hepatocellular adenomas" EXACT [] synonym: "liver cell adenoma" EXACT [] synonym: "liver cell adenomas" EXACT [] xref: EFO:0000762 xref: MESH:D018248 is_a: DOID:657 ! adenoma is_a: DOID:916 ! liver benign neoplasm [Term] id: DOID:0050869 name: villous adenoma def: "An adenoma that is located_in the colon and other places in the gastrointestinal tract and sometimes in other parts of the body. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/villous-adenoma "DO"] synonym: "villous adenomas" EXACT [] xref: ICDO:8261/0 xref: MESH:D018253 is_a: DOID:657 ! adenoma [Term] id: DOID:0050870 name: pulmonary adenocarcinoma in situ def: "A lung carcinoma in situ that derives_from the distal bronchioles or alveoli that initially exhibit a specific non-invasive growth pattern. (DO)" [http://en.wikipedia.org/wiki/Bronchioalveolar_carcinoma "DO"] is_a: DOID:3910 ! lung adenocarcinoma is_a: DOID:8800 ! lung carcinoma in situ created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0050871 name: fibroma def: "A connective tissue benign neoplasm composed of fibrous or connective tissues that derives_from mesenchymal tissue. (DO)" [https://en.wikipedia.org/wiki/Fibroma "DO"] synonym: "EFO:0002424" EXACT [] synonym: "fibromas" EXACT [] synonym: "fibromatoses" EXACT [] synonym: "fibromatosis" EXACT [] synonym: "Fibromyxoma" EXACT [] synonym: "fibromyxomas" EXACT [] synonym: "myxofibroma" EXACT [] synonym: "myxofibromas" EXACT [] synonym: "Superficial Fibromatosis" NARROW [] xref: EFO:0000497 xref: EFO:0002424 xref: EFO:1000148 xref: EFO:1000556 xref: ICDO:8810/0 xref: MESH:D005350 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:9008446 ! Fibrous Tissue Neoplasms [Term] id: DOID:0050872 name: large cell neuroendocrine carcinoma def: "A lung large cell carcinoma that derives_from neuroendocrine cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15999058 "DO"] synonym: "EFO:0000563" EXACT [] xref: EFO:0000563 xref: ICDO:8013/3 is_a: DOID:4552 ! large cell carcinoma is_a: DOID:4556 ! lung large cell carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0050873 name: follicular lymphoma alt_id: MIM:613024 def: "A B-cell lymphoma that is characterized as an indolent non-Hodgkin's lymphoma and has_material_basis_in follicle center B-cells (centrocytes and centroblasts). (DO)" [http://en.wikipedia.org/wiki/Follicular_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=428287 "DO"] synonym: "Brill Symmers Disease" EXACT [] synonym: "Cutaneous Follicular Lymphoma" NARROW [] synonym: "FL1" EXACT [] synonym: "Follicular Large Cell Lymphoma" EXACT [] synonym: "follicular large-cell lymphomas" EXACT [] synonym: "Follicular Lymphoma, Grade 1" EXACT [] synonym: "Follicular Lymphoma, Grade 2" EXACT [] synonym: "Follicular Lymphoma, Grade 3" EXACT [] synonym: "Follicular Lymphomas" EXACT [] synonym: "Follicular Lymphoma, Somatic" EXACT [] synonym: "FOLLICULAR LYMPHOMA, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "Follicular Mixed Cell Lymphoma" EXACT [] synonym: "Follicular Mixed-Cell Lymphomas" EXACT [] synonym: "follicular small cleaved cell lymphoma" EXACT [] synonym: "Giant Follicular Lymphoma" EXACT [] synonym: "Giant Follicular Lymphomas" EXACT [] synonym: "Large Lymphoid Lymphoma, Nodular" EXACT [] synonym: "Lymphocytic Lymphoma, Nodular, Poorly Differentiated" EXACT [] synonym: "Lymphoma, Follicular, Mixed Lymphocytic-Histiocytic" EXACT [] synonym: "Lymphoma, Follicular, Mixed Small and Large Lymphoid" EXACT [] synonym: "Lymphoma, Follicular, Small and Large Cleaved Cell" EXACT [] synonym: "Lymphoma, Nodular, Mixed Lymphocytic Histiocytic" EXACT [] synonym: "Lymphoma, Nodular, Mixed Small and Large Cell" EXACT [] synonym: "Lymphoma, Small Lymphoid, Follicular" EXACT [] synonym: "Nodular Histiocytic Lymphoma" EXACT [] synonym: "Nodular Histiocytic Lymphomas" EXACT [] synonym: "Nodular Large Follicular Center Cell Lymphoma" EXACT [] synonym: "Nodular Lymphoma" EXACT [] synonym: "Nodular Lymphomas" EXACT [] synonym: "small follicular center cell lymphoma" EXACT [] xref: EFO:1000211 xref: GARD:2356 xref: ICDO:9690/3 xref: MESH:D008224 xref: MONDO:0018906 xref: NCI:C3209 xref: NCI:C3465 is_a: DOID:0060060 ! non-Hodgkin lymphoma is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:0050876 name: Caroli disease def: "A bile duct disease that is characterized by abnormal dilatation of the intrahepatic bile ducts. (DO)" [http://en.wikipedia.org/wiki/Caroli_disease "DO", http://www.medindex.am/glossary/mesh/defini.php?action=search&type=cui&word=C0162510 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/606/viewAbstract "DO"] synonym: "Caroli's disease" EXACT [] synonym: "Carolis Disease" EXACT [] xref: EFO:1001286 xref: GARD:6002 xref: MESH:D016767 xref: MONDO:0010913 xref: NCI:C84619 is_a: DOID:0060340 ! ciliopathy is_a: DOID:899 ! choledochal cyst [Term] id: DOID:0050877 name: pancreatic agenesis alt_id: DOID:9003314 alt_id: DOID:9009230 def: "A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4062962/pdf/emss-58937.pdf "DO"] synonym: "congenital pancreatic agenesis" EXACT [] synonym: "congenital pancreatic hypoplasia" EXACT [] synonym: "PAGEN" EXACT [] synonym: "pancreatic hypoplasia" EXACT [] synonym: "partial pancreatic agenesis" NARROW [] synonym: "PDX1-RELATED DISORDER" BROAD [] xref: GARD:4203 xref: MESH:C564908 xref: MIM:PS260370 xref: MONDO:0009832 xref: ORDO:2805 is_a: DOID:26 ! pancreas disease [Term] id: DOID:0050879 name: fragile X-associated tremor/ataxia syndrome alt_id: MIM:300623 def: "A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA. (DO)" [http://en.wikipedia.org/wiki/Fragile_X-associated_tremor/ataxia_syndrome "DO", http://omim.org/entry/300623 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=93256 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18195136 "DO"] synonym: "Fragile X Tremor Ataxia Syndrome" EXACT [] synonym: "FXTAS" EXACT [] synonym: "FXTAS syndrome" EXACT [] xref: MESH:C564105 xref: NCI:C126566 xref: ORDO:93256 is_a: DOID:0050953 ! X-linked hereditary ataxia is_a: DOID:14261 ! fragile X syndrome is_a: DOID:9000495 ! Tremor [Term] id: DOID:0050880 name: Koolen de Vries syndrome alt_id: DOID:0070076 alt_id: MIM:610443 alt_id: RDO:0014820 def: "A syndrome that is characterized by developmental delay, intellectual disability, muscle weakness (hypotonia), epilepsy, distinctive facial features and congenital malformations of the heart, urogenital tract and the central nervous system, and has_material_basis_in either a chromosome 17 (17q21.31) microdeletion or a mutation in the KANSL1-gene. (DO)" [http://en.wikipedia.org/wiki/Koolen_De_Vries_syndrome "DO", http://ghr.nlm.nih.gov/condition/koolen-de-vries-syndrome "DO", http://omim.org/entry/610443 "DO", http://www.17q21.com/en/ "DO", http://www.ncbi.nlm.nih.gov/books/NBK24676/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=96169 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19447831 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22544363 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22544367 "DO"] synonym: "17q21.31 deletion syndrome" EXACT [] synonym: "17q21.31 microdeletion syndrome" EXACT [] synonym: "Chromosome 17q21.31 Deletion Syndrome" EXACT [] synonym: "Chromosome 17q21.31 Microdeletion Syndrome" EXACT [] synonym: "KANSL1-RELATED CONDITION" EXACT [] synonym: "KANSL1-related intellectual disability syndrome" EXACT [] synonym: "KDVS" EXACT [] synonym: "Koolen syndrome" EXACT [] synonym: "monosomy 17q21.31" EXACT [] xref: GARD:10727 xref: MESH:C566476 xref: ORDO:96169 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050881 name: inclusion body myopathy with Paget disease of bone and frontotemporal dementia def: "A syndrome that is characterized by progressive proximal muscle weakness, steolytic bone lesions consistent with Paget disease, and frontotemporal dementia and has_material_basis_in mutation in the valosin containing protein. (DO)" [http://omim.org/entry/167320 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19380227 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21304887 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21892620 "DO"] synonym: "IBMPFD" EXACT [] synonym: "INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL DEMENTIA" EXACT [] synonym: "inclusion body myopathy with early-onset Paget disease of bone and-or frontotemporal dementia" EXACT [] synonym: "inclusion body myopathy with Paget's disease of bone and frontotemporal dementia" EXACT [] synonym: "Inclusion Body Myopathy with Paget Disease of Bone and-or Frontotemporal Dementia" EXACT [] synonym: "Lower Motor Neuron Degeneration With Paget-Like Bone Disease" EXACT [] synonym: "Muscular Dystrophy, Limb-Girdle, With Paget Disease Of Bone" EXACT [] synonym: "Pagetoid Amyotrophic Lateral Sclerosis" EXACT [] synonym: "pagetoid neuroskeletal syndrome" EXACT [] xref: MESH:C563476 xref: MIM:PS167320 xref: ORDO:52430 is_a: DOID:11724 ! limb-girdle muscular dystrophy is_a: DOID:225 ! syndrome is_a: DOID:3429 ! inclusion body myositis is_a: DOID:5408 ! Paget's disease of bone is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0050882 name: spinocerebellar ataxia type 5 def: "An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20368622 "DO"] synonym: "SCA5" EXACT [] synonym: "spinocerebellar ataxia 5" EXACT [] synonym: "SPTBN2-RELATED CONDITION" BROAD [] xref: GARD:4953 xref: MIM:600224 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050883 name: infantile cerebellar-retinal degeneration def: "A neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration. (DO)" [http://omim.org/entry/614559 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=313850 "DO", http://www.uniprot.org/diseases/DI-03409 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22405087 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23438437 "DO"] synonym: "ACO2-RELATED CONDITION" BROAD [] synonym: "ACO2-RELATED DISORDER" BROAD [] synonym: "ICRD" EXACT [] xref: GARD:13264 xref: MIM:614559 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5723 ! optic atrophy is_a: DOID:8466 ! retinal degeneration is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008739 ! Athetosis is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:0050884 name: triosephosphate isomerase deficiency alt_id: MIM:615512 def: "A glucose metabolism disorder that is characterized by chronic haemolytic anaemia, cardiomyopathy, susceptibility to infections and severe neurological dysfunction, and has_material_basis_in the triosephosphate isomerase enzyme (TPI1) gene inherited as an autosomal recessive trait. (DO)" [http://en.wikipedia.org/wiki/Triosephosphate_isomerase_deficiency "DO", http://omim.org/entry/615512 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=868 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1183/printFullReport "DO", https://www.ncbi.nlm.nih.gov/pubmed/16980388 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17424909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23318931 "DO"] synonym: "TPID" EXACT [] synonym: "TPI-Hungary" RELATED [] synonym: "triose phosphate-isomerase deficiency" EXACT [] xref: GARD:5287 xref: MESH:C566029 xref: NCI:C131652 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:0050885 name: IMAGe syndrome alt_id: MIM:202155 alt_id: MIM:614732 def: "A syndrome that is characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities and has_material_basis_in heterozygous mutation in the CDKN1C gene. (DO)" [http://omim.org/entry/614732 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=85173 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14760276 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22634751 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23719190 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24065356 "DO"] synonym: "Adrenal Hypoplasia, Cytomegalic Type" EXACT [] synonym: "IMAGE" EXACT [] synonym: "intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita, genital abnormalities" EXACT [] synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies" EXACT [] xref: GARD:12312 xref: MESH:C564543 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:0050886 name: Troyer syndrome alt_id: MIM:275900 def: "A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. (DO)" [http://en.wikipedia.org/wiki/SPG20 "DO", http://ghr.nlm.nih.gov/condition/troyer-syndrome "DO", http://ghr.nlm.nih.gov/gene/SPG20 "DO", http://omim.org/entry/275900 "DO", http://www.orpha.net/consor/cgi-bin//Disease_Search.php?lng=EN&data_id=14711&Disease_Disease_Search_diseaseGroup=spastic-paraplegia&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Autosomal-recessive-spastic-paraplegia-type-20&title=Autosomal-recessive-spastic-paraplegia-type-20&search=Disease_Search_Simple "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301556 "DO"] synonym: "autosomal recessive spastic paraplegia 20" EXACT [] synonym: "autosomal recessive spastic paraplegia Troyer type" EXACT [] synonym: "autosomal recessive spastic paraplegia type 20" EXACT [] synonym: "childhood-onset spastic paraparesis with distal muscle wasting" EXACT [] synonym: "Cross-McKusick syndrome" EXACT [] synonym: "hereditary spastic paraplegia 20" EXACT [] synonym: "SPART-RELATED CONDITION" EXACT [] synonym: "spastic paraplegia 20" EXACT [] synonym: "spastic paraplegia type 20" EXACT [] synonym: "spastic paraplegia with distal muscle wasting" EXACT [] synonym: "SPG20" EXACT [] xref: GARD:5372 xref: MESH:C536858 xref: ORDO:101000 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0050887 name: Townes-Brocks syndrome def: "A syndrome that is characterized by imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. (DO)" [http://en.wikipedia.org/wiki/Townes%E2%80%93Brocks_syndrome "DO", http://ghr.nlm.nih.gov/condition/townes-brocks-syndrome "DO", http://www.omim.org/entry/107480 "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=218&Disease(s)/group%20of%20diseases=Townes-Brocks-syndrome&title=Townes-Brocks-syndrome&search=Disease_Search_Simple "DO", https://www.ncbi.nlm.nih.gov/pubmed/12925729 "DO"] synonym: "anal-ear-renal-radial malformation syndrome" EXACT [] synonym: "Deafness-Imperforate Anus-Hypoplastic Thumbs Syndrome" EXACT [] synonym: "imperforate anus-hand and foot anomalies syndrome" EXACT [] synonym: "imperforate anus with hand, foot, and ear anomalies" EXACT [] synonym: "REAR syndrome" EXACT [] synonym: "renal-ear-anal-radial syndrome" EXACT [] synonym: "renal-ear-anal-radial syndrome (rear)" EXACT [] synonym: "SALL1-RELATED CONDITION" EXACT [] synonym: "sensorineural deafness-imperforate anus-hypoplastic thumbs syndrome" EXACT [] synonym: "sensorineural deafness with imperforate anus and hypoplastic thumbs" EXACT [] synonym: "sensorineural deafness with imperforate anus and thumb anomalies" EXACT [] synonym: "TBS1" EXACT [] synonym: "Townes-Brocks-branchiootorenal-like syndrome" RELATED [] synonym: "Townes-Brocks syndrome 1" EXACT [] synonym: "Townes Syndrome" EXACT [] xref: GARD:7784 xref: MESH:C536974 xref: MIM:107480 xref: MIM:PS107480 xref: MONDO:0007142 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10488 ! imperforate anus is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0050888 name: syndromic intellectual disability def: "An intellectual disability that is characterized by the presence of associated medical and behavioral sign and symptoms. (DO)" [http://en.wikipedia.org/wiki/Intellectual_disability "DO"] is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050889 name: non-syndromic intellectual disability def: "An intellectual disability that is characterized by the absence of associated medical and behavioral signs and symptoms. (DO)" [http://en.wikipedia.org/wiki/Intellectual_disability "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2974911/ "DO"] is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0050890 name: synucleinopathy def: "A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. (DO)" [http://en.wikipedia.org/wiki/Synucleinopathies "DO"] synonym: "α-synucleinopathy" EXACT [] synonym: "alpha synucleinopathies" EXACT [] synonym: "alpha-synucleinopathy" EXACT [] synonym: "alpha synuclein pathologies" EXACT [] synonym: "alpha synuclein pathology" EXACT [] synonym: "a-synucleinopathies" EXACT [] synonym: "a-synucleinopathy" EXACT [] synonym: "synucleinopathies" EXACT [] xref: MESH:D000080874 xref: MONDO:0000510 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9000842 ! Proteostasis Deficiencies created_by: rgd creation_date: 2017-07-13T00:00:00Z [Term] id: DOID:0050891 name: adrenal cortical adenoma def: "An adrenal adenoma that is a benign tumor of the adrenal cortex. (DO)" [http://en.wikipedia.org/wiki/Adrenocortical_adenoma "DO"] synonym: "adrenal cortical adenomas" EXACT [] synonym: "adrenocortical adenoma" EXACT [] synonym: "adrenocortical adenomas" EXACT [] synonym: "Aldosterone Producing Adrenal Cortex Adenoma" NARROW [] synonym: "Conn's disease" EXACT [] synonym: "Conn Adenoma" EXACT [] synonym: "Conn adenomas" EXACT [] synonym: "Conn disease" EXACT [] synonym: "Conns disease" EXACT [] synonym: "Cortisol-Producing Adrenal Cortex Adenoma" NARROW [] synonym: "EFO:0003104" EXACT [] synonym: "Non-Functioning Adrenal Cortex Adenoma" NARROW [] synonym: "Sex Hormone-Producing Adrenal Cortex Adenoma" NARROW [] xref: EFO:0003104 xref: EFO:1000208 xref: EFO:1000399 xref: EFO:1000523 xref: ICDO:8370/0 xref: MESH:D018246 xref: NCI:C9003 is_a: DOID:656 ! adrenal adenoma is_a: DOID:9005582 ! Adrenal Cortex Neoplasms [Term] id: DOID:0050892 name: adrenal gland pheochromocytoma def: "A malignant pheochromocytoma that is characterized by overproduction of adrenaline. (DO)" [http://en.wikipedia.org/wiki/Adrenal_tumor#Pheochromocytoma "DO", http://en.wikipedia.org/wiki/Pheochromocytoma "DO", http://www.cancer.gov/cancertopics/types/pheochromocytoma "DO"] synonym: "EFO:0000239" EXACT [] synonym: "Malignant Adrenal Gland Pheochromocytoma" EXACT [] xref: EFO:0000239 xref: EFO:1000348 xref: NCI:C121568 xref: NCI:C134960 xref: NCI:C3326 is_a: DOID:0080347 ! malignant pheochromocytoma created_by: rgd creation_date: 2017-02-06T17:14:16Z [Term] id: DOID:0050893 name: gallbladder adenoma def: "A gallbladder benign neoplasm that has_material_basis_in epithelial tissue of glandular origin located_in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] synonym: "EFO:1000263" EXACT [] xref: EFO:1000263 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050894 name: ameloblastoma def: "A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. (DO)" [http://en.wikipedia.org/wiki/Ameloblastoma "DO"] synonym: "ameloblastomas" EXACT [] synonym: "plexiform ameloblastoma" NARROW [] xref: EFO:1000487 xref: GARD:5747 xref: ICDO:9310/0 xref: MESH:D000564 xref: MONDO:0017795 xref: NCI:C4313 xref: ORDO:314419 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060099 ! musculoskeletal system benign neoplasm is_a: DOID:9006134 ! Odontogenic Tumors is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:0050895 name: bone ameloblastoma def: "A bone benign neoplasm that has_material_basis_in odontogenic epithelium and is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Ameloblastoma "DO"] is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:0050896 name: bone squamous cell carcinoma def: "A bone carcinoma that derives_from squamous epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2762 ! bone carcinoma [Term] id: DOID:0050897 name: bone chondrosarcoma def: "A chondrosarcoma that is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Chondrosarcoma "DO"] xref: EFO:0010832 is_a: DOID:3371 ! chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050898 name: phalanx chondroma def: "A bone benign neoplasm that is located_in the phalanx that has_material_basis_in cartilaginous cells. (DO)" [http://en.wikipedia.org/wiki/Chondroma "DO"] xref: RDO:9004367 is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:2602 ! chondroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050899 name: brain stem medulloblastoma def: "A brain stem cancer that begins in the lower part of the brain on the floor of the skull. (DO)" [http://en.wikipedia.org/wiki/Medulloblastoma "DO"] is_a: DOID:0050902 ! medulloblastoma is_a: DOID:4203 ! brain stem cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050900 name: sacrum chordoma def: "A spinal chordoma that is located_in the sacrum. (DO)" [http://en.wikipedia.org/wiki/Sacrum "DO", http://www.cancer.gov/dictionary?CdrID=45297 "DO"] synonym: "sacral chordoma" EXACT [] xref: NCI:C129927 is_a: DOID:4153 ! spinal chordoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0050901 name: corpus callosum oligodendroglioma def: "A brain oligodendroglioma located_in the corpus callosum. (DO)" [http://en.wikipedia.org/wiki/Corpus_callosum "DO", http://en.wikipedia.org/wiki/Oligodendroglioma "DO", http://www.cancer.gov/dictionary?CdrID=46257 "DO"] is_a: DOID:3187 ! brain oligodendroglioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0050902 name: medulloblastoma alt_id: MIM:155255 def: "An infratentorial cancer that is located_in the lower part of the brain and is a type of primitive neuroectodermal tumor. (DO)" [http://en.wikipedia.org/wiki/Medulloblastoma "DO", http://www.cancer.gov/dictionary?CdrID=45780 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3306779/ "DO"] synonym: "brain medulloblastoma" EXACT [] synonym: "circumscribed arachnoidal cerebellar sarcoma" EXACT [] synonym: "CLASSIC MEDULLOBLASTOMA" NARROW [] synonym: "CNS PNET" EXACT [] synonym: "CPNET" EXACT [] synonym: "desmoplastic medulloblastoma" EXACT [] synonym: "desmoplastic medulloblastomas" EXACT [] synonym: "EFO:0002939" EXACT [] synonym: "infratentorial primitive neuroectodermal tumor" EXACT [] synonym: "localized primitive neuroectodermal tumor" EXACT [] synonym: "MBEN" NARROW [] synonym: "MDB" EXACT [] synonym: "Medulloblastoma, histologically defined" EXACT [] synonym: "medulloblastoma predisposition syndrome" EXACT [] synonym: "medulloblastomas" EXACT [] synonym: "medulloblastoma, somatic" NARROW [] synonym: "medulloblastoma with extensive nodularity" NARROW [] synonym: "melanocytic medulloblastoma" EXACT [] synonym: "melanocytic medulloblastomas" EXACT [] synonym: "PTCH2-RELATED CONDITION" BROAD [] xref: EFO:0002939 xref: GARD:7005 xref: ICDO:9470/3 xref: MESH:D008527 xref: NCI:C27294 xref: NCI:C3222 xref: NCI:C3716 xref: ORDO:616 is_a: DOID:4706 ! infratentorial cancer is_a: DOID:9002904 ! Primitive Neuroectodermal Tumors [Term] id: DOID:0050903 name: parietal lobe ependymoma def: "A parietal lobe neoplasm that has_material_basis_in cells lining the ventricles of the brain. (DO)" [http://www.cancer.gov/dictionary?CdrID=46432 "DO"] is_a: DOID:14384 ! parietal lobe neoplasm created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0050904 name: salivary gland carcinoma def: "A salivary gland cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Salivary_gland_neoplasm "DO", http://www.cancer.gov/dictionary?CdrID=45963 "DO"] synonym: "Major Salivary Gland Carcinoma" NARROW [] synonym: "Minor Salivary Gland Adenocarcinoma" NARROW [] synonym: "Salivary Gland Adenosquamous Carcinoma" NARROW [] synonym: "Salivary Gland Basal Cell Adenocarcinoma" NARROW [] synonym: "Salivary Gland Large Cell Carcinoma" NARROW [] synonym: "salivary gland squamous cell carcinoma" NARROW [] xref: EFO:1000344 xref: EFO:1000379 xref: EFO:1000514 xref: EFO:1000516 xref: EFO:1000517 xref: EFO:1001967 is_a: DOID:305 ! carcinoma is_a: DOID:8850 ! salivary gland cancer created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0050905 name: inflammatory myofibroblastic tumor def: "A mesenchymal cell neoplasm that has_material_basis_in myofibroblastic cells admixed with inflammatory cells. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2689747/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23091756 "DO"] synonym: "Bladder Inflammatory Myofibroblastic Tumor" NARROW [] synonym: "Lung Inflammatory Myofibroblastic Tumor" NARROW [] synonym: "myofibroblastic tumor" EXACT [] synonym: "Retroperitoneal Inflammatory Myofibroblastic Tumor" NARROW [] xref: EFO:1000127 xref: EFO:1000333 xref: EFO:1000510 xref: GARD:7146 is_a: DOID:3350 ! mesenchymal cell neoplasm [Term] id: DOID:0050906 name: conjunctival nevus def: "A sensory organ benign neoplasm that is located in the eye conjunctiva. (DO)" [http://en.wikipedia.org/wiki/Conjunctiva "DO", http://en.wikipedia.org/wiki/Eye_neoplasm#Conjunctival_tumors "DO"] synonym: "EFO:1000205" EXACT [] xref: EFO:1000205 xref: RDO:9002409 is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:9008245 ! Conjunctival Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0050907 name: mixed extragonadal germ cell cancer def: "A mixed germ cell cancer that is located_in areas of the body other than the ovary or testicle. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed "DO", http://www.cancer.gov/dictionary?CdrID=444993 "DO"] xref: MONDO:0000524 is_a: DOID:3306 ! mixed germ cell cancer is_a: DOID:4717 ! extragonadal germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050908 name: myelodysplastic syndrome def: "A bone marrow cancer that is characterized by under production of white blood cells, red blood cells and platelets. (DO)" [http://en.wikipedia.org/wiki/Myelodysplastic_syndrome "DO", http://www.cancer.gov/dictionary?CdrID=45266 "DO"] synonym: "ASXL1-RELATED CONDITION" BROAD [] synonym: "dysmyelopoietic syndrome" EXACT [] synonym: "dysmyelopoietic syndromes" EXACT [] synonym: "EFO:0000198" EXACT [] synonym: "hematopoetic myelodysplasia" EXACT [] synonym: "hematopoetic myelodysplasias" EXACT [] synonym: "MDS" EXACT [] synonym: "myelodysplasia" NARROW [] synonym: "myelodysplastic syndrome progressed to acute myeloid leukemia" NARROW [] synonym: "myelodysplastic syndromes" EXACT [] synonym: "myelodysplastic syndrome, susceptibility to" RELATED [] synonym: "TET2-RELATED CONDITION" BROAD [] xref: EFO:0000198 xref: GARD:7132 xref: ICDO:9989/3 xref: MESH:D009190 xref: MIM:614286 xref: MONDO:0018881 xref: NCI:C3247 is_a: DOID:225 ! syndrome is_a: DOID:4960 ! bone marrow cancer [Term] id: DOID:0050909 name: extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue def: "A marginal zone B-cell lymphoma that has_material_basis_in mucosal tissue involved in antibody production. (DO)" [http://www.cancer.gov/dictionary?CdrID=45774 "DO", http://www.cancerresearchuk.org/about-cancer/non-hodgkin-lymphoma/types/malt "DO"] synonym: "Breast Mucosa-Associated Lymphoid Tissue Lymphoma" NARROW [] synonym: "EFO:0000191" EXACT [] synonym: "LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE" EXACT [] synonym: "Lymphoma of Mucosa Associated Lymphoid Tissue" EXACT [] synonym: "MALT lymphoma" EXACT [] synonym: "MALT lymphoma of the dura" EXACT [] synonym: "mucosa associated lymphoid tissue lymphoma" EXACT [] synonym: "Small Intestinal Mucosa-Associated Lymphoid Tissue Lymphoma" NARROW [] synonym: "Thyroid Gland Mucosa-Associated Lymphoid Tissue Lymphoma" NARROW [] xref: EFO:0000191 xref: EFO:1000146 xref: EFO:1000537 xref: EFO:1000591 xref: ICDO:9699/3 xref: MIM:137245 xref: NCI:C3898 is_a: DOID:0050748 ! marginal zone lymphoma created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0050910 name: cecum adenoma def: "A cecal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] synonym: "caecum adenoma" EXACT [] synonym: "Cecum Villous Adenoma" NARROW [] synonym: "EFO:1000155" EXACT [] xref: EFO:1000155 is_a: DOID:1517 ! cecal benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050911 name: appendix carcinoid tumor def: "An appendix cancer that has_material_basis_in neurodendocrine cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoid "DO", http://www.cancer.gov/dictionary?CdrID=44233 "DO"] synonym: "appendix carcinoid endocrine tumour" EXACT [] synonym: "Appendix Goblet Cell Carcinoid" NARROW [] synonym: "Appendix Neuroendocrine Tumor G1" NARROW [] synonym: "EFO:1000092" EXACT [] xref: EFO:1000090 xref: EFO:1000092 is_a: DOID:11239 ! appendix cancer [Term] id: DOID:0050912 name: colon adenoma def: "A colonic benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Colorectal_adenoma "DO", http://www.cancer.gov/dictionary?CdrID=46217 "DO"] is_a: DOID:235 ! colonic benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0050913 name: large intestine adenocarcinoma def: "A large intestine cancer that has_material_basis_in epithelial cells of glandular origin. (DO)" [http://www.cancer.gov/dictionary?CdrID=46216 "DO"] synonym: "EFO:0000365" EXACT [] xref: EFO:0000365 xref: RDO:9001839 is_a: DOID:299 ! adenocarcinoma is_a: DOID:5672 ! large intestine cancer created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0050914 name: large intestine adenoma def: "An intestinal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin and is located_in the large intestine. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] synonym: "EFO:0005406" EXACT [] xref: EFO:0005406 is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050915 name: rectal adenoma def: "An rectal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] synonym: "rectal traditional serrated adenoma" NARROW [] synonym: "rectal tubular adenoma" NARROW [] synonym: "Rectal Tubulovillous Adenoma" NARROW [] synonym: "rectal villous adenoma" NARROW [] synonym: "rectum adenoma" EXACT [] xref: EFO:1000503 xref: EFO:1000504 xref: EFO:1000505 xref: EFO:1000506 xref: NCI:C5546 is_a: DOID:1984 ! rectal benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050916 name: bronchus mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the bronchus. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"] is_a: DOID:3904 ! bronchus carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050917 name: lung combined type small cell adenocarcinoma def: "A lung combined type small cell carcinoma that has_material_basis_in epithelial tissue of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma "DO", http://www.cancer.gov/dictionary?CdrID=45327 "DO", http://www.cancer.gov/dictionary?CdrID=46216 "DO"] is_a: DOID:299 ! adenocarcinoma is_a: DOID:5421 ! lung combined type small cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050918 name: vaginal carcinoma def: "A vaginal cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "Vaginal Adenoid Cystic Carcinoma" NARROW [] synonym: "Vaginal Squamous Cell Carcinoma" NARROW [] xref: EFO:1000617 xref: EFO:1000620 is_a: DOID:119 ! vaginal cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0050919 name: trachea mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the trachea. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"] is_a: DOID:4531 ! mucoepidermoid carcinoma is_a: DOID:4876 ! trachea carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:0050920 name: tonsil squamous cell carcinoma def: "A tonsil cancer that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "tonsillar squamous cell carcinoma" EXACT [] xref: EFO:1000597 xref: MONDO:0006470 is_a: DOID:0050921 ! pharynx squamous cell carcinoma is_a: DOID:8858 ! tonsil cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050921 name: pharynx squamous cell carcinoma def: "A pharynx cancer that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "EFO:1001965" EXACT [] synonym: "pharyngeal squamous cell carcinoma" EXACT [] xref: EFO:1001965 xref: NCI:C102872 xref: RDO:9002336 is_a: DOID:0060119 ! pharynx cancer is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0050922 name: gastrointestinal carcinoma def: "A gastrointestinal system cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "EFO:1000218" EXACT [] xref: EFO:1000218 xref: RDO:9004722 is_a: DOID:305 ! carcinoma is_a: DOID:3119 ! gastrointestinal system cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0050923 name: spindle epithelial tumor with thymus-like differentiation tumor def: "A thyroid gland carcinoma that has_material_basis_in compact bundles of long spindle epithelial cells that merge with tubulopapillary structures and/or mucinous glands. (DO)" [http://www.pathologyoutlines.com/topic/thyroidsettle.html "DO", http://www.scielo.br/scielo.php?pid=S0004-27302010000700011&script=sci_arttext "DO", https://www.ncbi.nlm.nih.gov/pubmed/19417583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2050369 "DO"] synonym: "EFO:1000593" EXACT [] synonym: "SETTLE tumor" EXACT [] synonym: "SETTLE tumour" EXACT [] synonym: "spindle epithelial tumour with thymus-like differentiation tumour" EXACT [] xref: EFO:1000593 is_a: DOID:3963 ! thyroid gland carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050924 name: striated muscle rhabdoid tumor def: "A muscle cancer that is located_in striated muscle and has_material_basis_in rhabdoid cells which are large cells with eccentrically located nuclei and abundant, eosinophilic cytoplasm. (DO)" [http://en.wikipedia.org/wiki/Malignant_rhabdoid_tumour "DO", http://www.cancer.gov/dictionary?CdrID=46139 "DO"] is_a: DOID:4045 ! muscle cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:0050925 name: small intestine carcinoid neuroendocrine tumor def: "A neuroendocrine tumor that has_material_basis_in cells of the neuroendocrine system and that is located in the small intestine. (DO)" [http://en.wikipedia.org/wiki/Carcinoid "DO"] synonym: "intestinal carcinoid tumour" BROAD [] is_a: DOID:10154 ! small intestine cancer is_a: DOID:169 ! neuroendocrine tumor created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0050926 name: jejunal adenocarcinoma def: "A jejunal cancer that is located_in the jejunum and has_material_basis_in epithelial tissue that has glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] is_a: DOID:13499 ! jejunal cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:0050927 name: duodenum adenoma def: "A duodenal benign neoplasm that has_material_basis_in epithelial tissue with glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenoma "DO"] synonym: "Duodenal Villous Adenoma" NARROW [] synonym: "EFO:1000225" EXACT [] xref: EFO:1000225 is_a: DOID:1737 ! duodenal benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0050928 name: ovarian melanoma def: "An ovarian cancer that has_material_basis_in melanoctyes. (DO)" [http://en.wikipedia.org/wiki/Melanoma "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3157440/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15166669 "DO"] is_a: DOID:2394 ! ovarian cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:0050929 name: mucosal melanoma def: "A melanoma that has_material_basis_in melanocytes located_in mucosal membranes lining the respiratory, gastrointestinal and urogenital tract. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3466987/?report=classic "DO"] xref: NCI:C114828 is_a: DOID:1909 ! melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0050930 name: sublingual gland adenoid cystic carcinoma def: "A sublingual gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO)" [http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO"] is_a: DOID:8849 ! sublingual gland cancer [Term] id: DOID:0050931 name: parotid gland adenoid cystic carcinoma def: "A parotid gland cancer that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. (DO)" [http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO", http://en.wikipedia.org/wiki/Parotid_gland "DO"] synonym: "EFO:1000459" EXACT [] xref: EFO:1000459 is_a: DOID:9036 ! parotid gland cancer [Term] id: DOID:0050932 name: lung mucoepidermoid carcinoma def: "A lung carcinoma that has_material_basis_in a combination of squamous cells, mucus secreting cells and intermediate cells. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"] synonym: "EFO:0006740" EXACT [] synonym: "pulmonary mucoepidermoid carcinoma" EXACT [] xref: EFO:0006740 xref: EFO:1000038 xref: NCI:C45544 xref: RDO:9001989 is_a: DOID:3905 ! lung carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0050933 name: ovarian serous carcinoma def: "An ovarian carcinoma that has_material_basis_in the lining of the ovary and produces a serum-like fluid. (DO)" [http://en.wikipedia.org/wiki/Serous_carcinoma "DO"] synonym: "EFO:0002917" EXACT [] xref: EFO:0002917 xref: EFO:1001516 is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:0050934 name: ovarian clear cell carcinoma def: "An ovarian carcinoma that has_material_basis_in cells with clear cytoplasm and glycogen secreting hob nail cells. (DO)" [http://en.wikipedia.org/wiki/Clear-cell_ovarian_carcinoma "DO"] is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:0050935 name: cervical neuroblastoma def: "An extracranial neuroblastoma that has_material_basis_in immature nerve cells. (DO)" [http://en.wikipedia.org/wiki/Neuroblastoma "DO", http://link.springer.com/article/10.1007%2Fs12070-007-0083-5 "DO", http://www.mayoclinic.org/diseases-conditions/neuroblastoma/basics/definition/con-20027487 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15390353 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9262064 "DO"] is_a: DOID:371 ! extracranial neuroblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0050936 name: extra-adrenal pheochromocytoma def: "A malignant pheochromocytoma that originate in the ganglia of the sympathetic nervous system and are named based upon the primary anatomical site of origin. (DO)" [http://en.wikipedia.org/wiki/Pheochromocytoma "DO"] synonym: "Malignant Bladder Paraganglioma" NARROW [] xref: EFO:0000489 xref: EFO:1000349 is_a: DOID:0080347 ! malignant pheochromocytoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0050937 name: retroperitoneal neuroblastoma def: "A retroperitoneal cancer that has_material_basis_in immature nerve cells. (DO)" [http://en.wikipedia.org/wiki/Neuroblastoma "DO", http://en.wiktionary.org/wiki/retroperitoneal "DO"] is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:0050938 name: breast lobular carcinoma def: "A breast carcinoma that derives_from breast lobules (milk glands). (DO)" [http://cancergenome.nih.gov/cancersselected/breastlobular "DO", http://www.cancer.gov/dictionary?CdrID=426416 "DO"] synonym: "EFO:0008509" EXACT [] synonym: "lobular carcinoma" EXACT [] synonym: "lobular carcinoma of breast" EXACT [] synonym: "lobular carcinoma of the breast" EXACT [] synonym: "lobular carcinomas" EXACT [] xref: EFO:0000570 xref: EFO:0008509 xref: ICDO:8520/3 xref: MESH:D018275 xref: NCI:C3771 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3459 ! breast carcinoma is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms [Term] id: DOID:0050939 name: uterine corpus endometrial carcinoma def: "A uterine corpus cancer that is derives_from the inner lining of the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5165063/ "DO"] is_a: DOID:2871 ! endometrial carcinoma is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:0050940 name: endocervical adenocarcinoma def: "An endocervical carcinoma that derives_from epithelial cells of glandular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12207781 "DO"] xref: MONDO:0000554 is_a: DOID:3702 ! cervical adenocarcinoma is_a: DOID:7519 ! endocervical carcinoma created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0050941 name: spastic ataxia 2 alt_id: MIM:611302 def: "A spastic ataxia that is characterized by cerebellar ataxia, spasticity and peripheral neuropathy in the first two decades of life, has_material_basis_in homozygous mutation in the KIF1C gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17273843 "DO"] synonym: "spastic ataxia 2, autosomal recessive" EXACT [] synonym: "SPAX2" EXACT [] xref: MESH:C566969 xref: NCI:C177252 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0050942 name: spastic ataxia 3 alt_id: MIM:611390 def: "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, hyperreflexia, urinary urgency and dysarthria, has_material_basis_in homozygous or compound heterozygous complex genomic rearrangements involving the MARS2 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22448145 "DO"] synonym: "ARSAL" EXACT [] synonym: "AUTOSOMAL RECESSIVE SPASTIC ATAXIA" EXACT [] synonym: "Autosomal Recessive Spastic Ataxia With Leukoencephalopathy" EXACT [] synonym: "spastic ataxia 3, autosomal recessive" EXACT [] synonym: "SPAX3" EXACT [] xref: MESH:C566956 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0050943 name: spastic ataxia 4 def: "A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20970105 "DO"] synonym: "MTPAP-RELATED CONDITION" EXACT [] synonym: "spastic ataxia 4, autosomal recessive" EXACT [] synonym: "SPAX4" EXACT [] xref: MIM:613672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia [Term] id: DOID:0050944 name: spastic ataxia 5 def: "A spastic ataxia that is characterized by early onset of cerebellar ataxia, spasticity, oculomotor apraxia, dystonia and myoclonic epilepsy, has_material_basis_in homozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22022284 "DO"] synonym: "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" EXACT [] synonym: "spastic ataxia 5, autosomal recessive" EXACT [] synonym: "SPAX5" EXACT [] xref: MIM:614487 xref: MONDO:0013776 xref: ORDO:313772 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia [Term] id: DOID:0050945 name: spastic ataxia 7 alt_id: DOID:9000811 alt_id: MESH:C566247 def: "A spastic ataxia that is characterized by poor visual acuity, cerebellar ataxia, dysarthria and pyramidal signs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6821680 "DO"] synonym: "spastic ataxia 7, autosomal dominant" EXACT [] synonym: "spastic ataxia with congenital miosis" EXACT [] synonym: "SPAX7" EXACT [] xref: MIM:108650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:9003165 ! Miosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0050946 name: Charlevoix-Saguenay spastic ataxia alt_id: MIM:270550 alt_id: RDO:0002476 def: "An autosomal recessive cerebellar ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy, has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the sacsin protein on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24384335 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26344561 "DO", https://www.omim.org/entry/270550 "DO"] synonym: "ARSACS" EXACT [] synonym: "autosomal recessive spastic ataxia of Charlevoix-Saguenay" EXACT [] synonym: "SACS" EXACT [] synonym: "SACS-RELATED CONDITION" EXACT [] synonym: "Spastic ataxia 6, autosomal recessive" EXACT [] synonym: "Spastic Ataxia Charlevoix-Saguenay Type" EXACT [] synonym: "spastic ataxia of Charlevoix-Saguenay" EXACT [] synonym: "SPAX6" EXACT [] xref: GARD:4910 xref: MESH:C536787 xref: NCI:C154614 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0050952 ! spastic ataxia [Term] id: DOID:0050947 name: hereditary hypophosphatemic rickets with hypercalciuria alt_id: MIM:241530 def: "A rickets that has_material_basis_in increased serum 1,25-dihydroxyvitamin D levels and increased intestinal calcium absorption and is characterized by the presence of hypophosphatemia secondary to renal phosphate wasting, radiographic and/or histologic evidence of rickets, limb deformities, muscle weakness, and bone pain. (DO)" [http://www.omim.org/entry/241530?search=241530&highlight=241530 "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=17137&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&title=Hereditary-hypophosphatemic-rickets-with-hypercalciuria&search=Disease_Search_Simple "DO"] synonym: "HHRH" EXACT [] synonym: "hypercalciuric rickets" EXACT [] synonym: "hypophosphatemic rickets with hypercalciuria" EXACT [] synonym: "SLC34A3-RELATED CONDITION" EXACT [] xref: MESH:C562793 is_a: DOID:0080578 ! digenic disease is_a: DOID:9001738 ! Hypercalciuria is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets [Term] id: DOID:0050948 name: autosomal dominant hypophosphatemic rickets alt_id: MIM:193100 def: "A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. (DO)" [http://www.omim.org/entry/193100?search=193100&highlight=193100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26365554 "DO"] synonym: "ADHR" EXACT [] synonym: "autosomal dominant hypophosphatemia" EXACT [] synonym: "hypophosphatemic rickets, dominant" EXACT [] synonym: "vitamin D-resistant rickets, autosomal dominant" EXACT [] xref: MESH:C562791 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets [Term] id: DOID:0050949 name: autosomal recessive hypophosphatemic rickets def: "A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. (DO)" [http://www.omim.org/entry/241520?search=241520&highlight=241520 "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=20703&Disease_Disease_Search_diseaseGroup=rickets&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Autosomal-recessive-hypophosphatemic-rickets&title=Autosomal-recessive-hypophosphatemic-rickets&search=Disease_Search_Simple "DO"] synonym: "recessive hypophosphatemic rickets" EXACT [] xref: ORDO:289176 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0050950 name: autosomal recessive cerebellar ataxia def: "A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1138/ "DO"] xref: MIM:PS213200 xref: ORDO:1172 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050951 name: hereditary ataxia def: "A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1138 "DO"] xref: EFO:0009671 xref: GARD:6614 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9004866 ! Ataxia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050952 name: spastic ataxia def: "A hereditary ataxia that is characterized by early onset of cerebellar ataxia, pyramidal tract signs and peripheral neuropathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24384335 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26344561 "DO"] xref: MESH:C564815 xref: MIM:PS108600 is_a: DOID:0050951 ! hereditary ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:5723 ! optic atrophy is_a: DOID:9002121 ! Spinocerebellar Ataxias is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:0050953 name: X-linked hereditary ataxia def: "A hereditary ataxia that is characterized by X-linked inheritance. (DO)" [https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ "DO"] is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050951 ! hereditary ataxia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0050954 name: spinocerebellar ataxia type 1 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. (DO)" [https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1 "DO"] synonym: "cerebelloparenchymal disorder I" EXACT [] synonym: "CPD1" EXACT [] synonym: "Menzel type OPCA" EXACT [] synonym: "olivopontocerebellar atrophy I" EXACT [] synonym: "olivopontocerebellar atrophy IV" EXACT [] synonym: "OPCA1" EXACT [] synonym: "OPCA4" EXACT [] synonym: "OPCA I" EXACT [] synonym: "OPCA IV" EXACT [] synonym: "SCA1" EXACT [] synonym: "Schut Haymaker type OPCA" EXACT [] synonym: "spinocerebellar ataxia 1" EXACT [] synonym: "spinocerebellar atrophy I" EXACT [] xref: EFO:0003089 xref: GARD:4071 xref: MIM:164400 xref: MONDO:0008119 xref: NCI:C129982 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050955 name: spinocerebellar ataxia type 2 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene. (DO)" [https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-2 "DO"] synonym: "olivopontocerebellar atrophy 2" EXACT [] synonym: "olivopontocerebellar atrophy, Holguin type" EXACT [] synonym: "olivopontocerebellar atrophy II" EXACT [] synonym: "OPCA2" EXACT [] synonym: "SCA2" EXACT [] synonym: "spinocerebellar ataxia 2" EXACT [] synonym: "spinocerebellar ataxia, Cuban type" EXACT [] synonym: "spinocerebellar ataxia with slow eye movements" EXACT [] synonym: "spinocerebellar atrophy 2" EXACT [] synonym: "spinocerebellar atrophy II" EXACT [] synonym: "spinocerebellar degeneration with slow eye movements" EXACT [] xref: MIM:183090 xref: NCI:C148315 xref: ORDO:98756 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:14784 ! olivopontocerebellar atrophy created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050956 name: spinocerebellar ataxia type 6 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, has_material_basis_in mutation in the CACNA1A gene. (DO)" [https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-6 "DO"] synonym: "SCA6" EXACT [] synonym: "spinocerebellar ataxia 6" EXACT [] xref: GARD:10351 xref: MIM:183086 xref: MONDO:0008457 xref: NCI:C142838 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0050957 name: spinocerebellar ataxia type 4 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and peripheral neuropathy, has_material_basis_in mutation in the SCA4 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9970/spinocerebellar-ataxia-4 "DO"] synonym: "SCA4" EXACT [] synonym: "spinocerebellar ataxia 4" EXACT [] synonym: "spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy" EXACT [] xref: GARD:9970 xref: MIM:600223 xref: MONDO:0010847 xref: ORDO:98765 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0050958 name: spinocerebellar ataxia type 7 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/4955/spinocerebellar-ataxia-7 "DO"] synonym: "ADCA, type II" EXACT [] synonym: "autosomal dominant cerebellar ataxia, type II" EXACT [] synonym: "olivopontocerebellar atrophy III" EXACT [] synonym: "OPCA3" EXACT [] synonym: "OPCA III" EXACT [] synonym: "OPCA with macular degeneration and external ophthalmoplegia" EXACT [] synonym: "OPCA with retinal degeneration" EXACT [] synonym: "SCA7" EXACT [] synonym: "spinocerebellar ataxia 7" EXACT [] xref: EFO:0003090 xref: MIM:164500 xref: MONDO:0008120 xref: NCI:C126562 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0050959 name: spinocerebellar ataxia type 8 alt_id: MIM:608768 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive dysarthria, bradykinesia, nystagmus and loss of coordination, has_material_basis_in mutation in the ATXN80S gene. (DO)" [https://rarediseases.info.nih.gov/diseases/4956/spinocerebellar-ataxia-8 "DO"] synonym: "SCA8" EXACT [] synonym: "spinocerebellar ataxia 8" EXACT [] xref: MESH:C537307 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050960 name: spinocerebellar ataxia type 10 alt_id: MIM:603516 def: "An autosomal dominant cerebellar ataxia that is characterized by gait ataxia, upper-limb ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the ATXN10 gene. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1175/ "DO"] synonym: "SCA10" EXACT [] synonym: "spinocerebellar ataxia 10" EXACT [] xref: GARD:10474 xref: MESH:C566874 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050961 name: spinocerebellar ataxia type 11 alt_id: MIM:604432 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, nystagmus, pyramidal abnormalities and peripheral neuropathy, has_material_basis_in mutation in the TTBK2 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10475/spinocerebellar-ataxia-11 "DO"] synonym: "SCA11" EXACT [] synonym: "Spinocerebellar Ataxia 11" EXACT [] synonym: "TTBK2-RELATED CONDITION" EXACT [] xref: MESH:C565772 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050962 name: spinocerebellar ataxia type 12 alt_id: MIM:604326 def: "An autosomal dominant cerebellar ataxia that is characterized by minor ataxia and intention tremor, has_material_basis_in CAG expansion of the PPP2R2B gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10476/spinocerebellar-ataxia-12 "DO"] synonym: "PPP2R2B-RELATED DISORDER" EXACT [] synonym: "SCA12" EXACT [] synonym: "spinocerebellar ataxia 12" EXACT [] xref: MESH:C565790 xref: NCI:C154316 xref: ORDO:98762 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050963 name: spinocerebellar ataxia type 13 alt_id: MIM:605259 def: "An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13 "DO"] synonym: "Autosomal dominant cerebellar ataxia with mental retardation" EXACT [] synonym: "SCA13" EXACT [] synonym: "Spinocerebellar Ataxia 13" EXACT [] xref: MESH:C537195 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050964 name: spinocerebellar ataxia type 14 alt_id: MIM:605361 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has_material_basis_in mutation in the PRKCG gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9867/spinocerebellar-ataxia-14 "DO"] synonym: "SCA14" EXACT [] synonym: "Spinocerebellar Ataxia 14" EXACT [] xref: MESH:C537196 xref: RDO:0002985 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050965 name: spinocerebellar ataxia type 15 alt_id: DOID:0050966 alt_id: MIM:606658 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, nystagmus, dysarthria and dysphagia, has_material_basis_in mutation in the ITPR1 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10477/spinocerebellar-ataxia-15 "DO"] synonym: "ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA" BROAD [] synonym: "SCA15" EXACT [] synonym: "SCA16" EXACT [] synonym: "spinocerebellar ataxia 15" EXACT [] synonym: "spinocerebellar ataxia 16" EXACT [] synonym: "spinocerebellar ataxia type 15/16" EXACT [] synonym: "spinocerebellar ataxia type 16" EXACT [] xref: MESH:C564685 xref: NCI:C150250 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050967 name: spinocerebellar ataxia type 17 alt_id: DOID:9001531 alt_id: DOID:9002725 alt_id: MESH:C563505 alt_id: MESH:C565866 alt_id: MIM:607136 def: "An autosomal dominant cerebellar ataxia that is characterized by chorea, dementia, dystonia, spasiticity and seizure, has_material_basis_in CAG repeat expansion in the TBP gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10469/spinocerebellar-ataxia-17 "DO"] synonym: "cerebelloparenchymal disorder II" EXACT [] synonym: "CPD2" EXACT [] synonym: "Cpd, Late-Onset Recessive Type" EXACT [] synonym: "HDL4" EXACT [] synonym: "Huntington's Disease-Like 4" EXACT [] synonym: "Huntington Disease-Like 4" EXACT [] synonym: "Olivopontocerebellar Atrophy V" EXACT [] synonym: "OPCA5" EXACT [] synonym: "OPCA with dementia and extrapyramidal signs" EXACT [] synonym: "SCA17" EXACT [] synonym: "spinocerebellar ataxia 17" EXACT [] xref: EFO:0003091 xref: GARD:10469 xref: MESH:C564616 xref: MONDO:0011781 xref: NCI:C179861 is_a: DOID:0080578 ! digenic disease is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:14784 ! olivopontocerebellar atrophy [Term] id: DOID:0050968 name: autosomal dominant cerebellar ataxia, deafness and narcolepsy alt_id: MIM:604121 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/12372/autosomal-dominant-cerebellar-ataxia-deafness-and-narcolepsy "DO"] synonym: "ADCADN" EXACT [] synonym: "cerebellar ataxia, deafness, and narcolepsy" EXACT [] xref: GARD:12372 xref: MESH:C565825 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:8986 ! narcolepsy [Term] id: DOID:0050969 name: spinocerebellar ataxia type 18 alt_id: MIM:607458 alt_id: RDO:0002986 def: "An autosomal dominant cerebellar ataxia that is characterized by cerebellar ataxia and sensory neuropathy, has_material_basis_in mutation on chromosome 7q22-q23. (DO)" [https://rarediseases.info.nih.gov/diseases/9976/spinocerebellar-ataxia-18 "DO"] synonym: "SCA18" EXACT [] synonym: "Sensorimotor Neuropathy with Ataxia, Autosomal Dominant" EXACT [] synonym: "SMNA" EXACT [] synonym: "Spinocerebellar ataxia 18" EXACT [] xref: GARD:9976 xref: MESH:C537197 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050970 name: spinocerebellar ataxia type 19/22 def: "An autosomal dominant cerebellar ataxia that is characterized by mild cerebellar ataxia, cognitive impairment, myoclonus and tremor. (DO)" [https://rarediseases.info.nih.gov/diseases/12365/spinocerebellar-ataxia-19-and-22 "DO"] synonym: "SCA19" EXACT [] synonym: "SCA22" EXACT [] synonym: "spinocerebellar ataxia 19" EXACT [] synonym: "spinocerebellar ataxia 22" EXACT [] xref: GARD:12365 xref: MESH:C537198 xref: MESH:C542540 xref: MIM:607346 xref: MONDO:0011819 xref: NCI:C163756 xref: ORDO:98772 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050971 name: spinocerebellar ataxia type 20 alt_id: MIM:608687 def: "An autosomal dominant cerebellar ataxia that is characterized by cerebellar dysarthria. (DO)" [https://rarediseases.info.nih.gov/diseases/9997/spinocerebellar-ataxia-20 "DO"] synonym: "CHROMOSOME 11q12 DUPLICATION SYNDROME, 260-KB" EXACT [] synonym: "SCA20" EXACT [] synonym: "spinocerebellar ataxia 20" EXACT [] synonym: "Spinocerebellar Ataxia With Dysphonia" EXACT [] synonym: "Spinocerebellar Ataxia With Spasmodic Cough" EXACT [] xref: GARD:9997 xref: MESH:C537199 xref: RDO:0002988 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050972 name: spinocerebellar ataxia type 21 alt_id: MIM:607454 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive cerebellar ataxia, cognitive impairment, tremor, bradykinesia and rigidity. (DO)" [https://rarediseases.info.nih.gov/diseases/9999/spinocerebellar-ataxia-21 "DO"] synonym: "SCA21" EXACT [] synonym: "Spinocerebellar Ataxia 21" EXACT [] xref: GARD:9999 xref: MESH:C537200 xref: RDO:0002989 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050973 name: spinocerebellar ataxia type 23 alt_id: MIM:610245 alt_id: RDO:0002990 def: "An autosomal dominnant cerebellar ataxia that is characterized by slowly progressive ataxia, dysarthria, slow saccades and hyperreflexia, has_material_basis_in mutation in the PDYN gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9950/spinocerebellar-ataxia-23 "DO"] synonym: "SCA23" EXACT [] synonym: "spinocerebellar ataxia 23" EXACT [] xref: MESH:C537201 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050974 name: spinocerebellar ataxia type 25 alt_id: MIM:608703 def: "An autosomal dominant cerebellar ataxia that is characterized by ataxia and sensory neuropathy, has_material_basis_in repeat CAG expansion on chromosome 2p15-p21. (DO)" [https://rarediseases.info.nih.gov/diseases/9996/spinocerebellar-ataxia-25 "DO"] synonym: "SCA25" EXACT [] synonym: "spinocerebellar ataxia 25" EXACT [] xref: GARD:9996 xref: MESH:C537202 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050975 name: spinocerebellar ataxia type 26 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9995/spinocerebellar-ataxia-26 "DO"] synonym: "SCA26" EXACT [] synonym: "spinocerebellar ataxia 26" EXACT [] xref: GARD:9995 xref: MESH:C537203 xref: MIM:609306 xref: MONDO:0012246 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050976 name: spinocerebellar ataxia type 27 alt_id: DOID:0111794 alt_id: MESH:C537856 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. (DO)" [https://rarediseases.info.nih.gov/diseases/9963/spinocerebellar-ataxia-27 "DO"] synonym: "autosomal dominant cerebellar ataxia, FGF14-related" EXACT [] synonym: "congenital nystagmus 4" EXACT [] synonym: "congenital nystagmus 4, autosomal dominant" EXACT [] synonym: "NYS4" EXACT [] synonym: "SCA27" EXACT [] synonym: "spinocerebellar ataxia 27" EXACT [] synonym: "vestibulocerebellar disorder with predominant ocular signs" EXACT [] xref: GARD:9603 xref: MESH:C537204 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0050977 name: spinocerebellar ataxia type 28 alt_id: MIM:610246 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28 "DO"] synonym: "SCA28" EXACT [] synonym: "spinocerebellar ataxia 28" EXACT [] xref: MESH:C537205 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050978 name: spinocerebellar ataxia type 29 alt_id: MIM:117360 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29 "DO"] synonym: "ACV" EXACT [] synonym: "aplasia of cerebellar vermis" EXACT [] synonym: "CEREBELLAR ATAXIA, CONGENITAL NONPROGRESSIVE, AUTOSOMAL DOMINANT" EXACT [] synonym: "cerebellar ataxia, early-onset, nonprogressive" EXACT [] synonym: "cerebellar vermis aplasia" EXACT [] synonym: "CNPCA" EXACT [] synonym: "ITPR1-related syndromic and non-syndromic hereditary ataxia" BROAD [] synonym: "SCA29" EXACT [] synonym: "spinocerebellar ataxia 29" EXACT [] synonym: "Spinocerebellar ataxia 29, congenital nonprogressive" EXACT [] xref: MESH:C537206 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050979 name: spinocerebellar ataxia type 30 alt_id: MIM:613371 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive gait abnormalities and dysarthria, has_material_basis_in mutation in the ODZ3 gene. (DO)" [https://www.omim.org/entry/613371 "DO"] synonym: "SCA30" EXACT [] synonym: "Spinocerebellar Ataxia 30" EXACT [] xref: GARD:4950 xref: MESH:C575214 xref: RDO:0015780 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050980 name: spinocerebellar ataxia type 31 def: "An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has_material_basis_in repeat expansion mutation in the BEAN1 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/9975/spinocerebellar-ataxia-31 "DO"] synonym: "SCA31" EXACT [] synonym: "spinocerebellar ataxia, 16q22-linked" EXACT [] synonym: "spinocerebellar ataxia 31" EXACT [] xref: MESH:C566146 xref: MIM:117210 xref: MONDO:0007296 xref: NCI:C176901 xref: ORDO:217012 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050981 name: spinocerebellar ataxia type 34 alt_id: DOID:9005475 alt_id: MIM:133190 def: "An autosomal dominant cerebellar ataxia that is characterized by papulosquamous, ichthyosiform plaques at birth and progressive ataxia, dysarthria, nystagmus and hyporeflexia, has_material_basis_in mutation in the ELOVL4 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/59/spinocerebellar-ataxia-34 "DO"] synonym: "erythrokeratodermia - ataxia" EXACT [] synonym: "erythrokeratodermia with ataxia" EXACT [] synonym: "Giroux Barbeau syndrome" EXACT [] xref: MESH:C535738 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0050982 name: spinocerebellar ataxia type 35 def: "An autosomal dominant cerebellar ataxia that is characterized by a slowly progressive ataxia, tremor, dysarthria and hyperreflexia, has_material_basis_in mutation in the TGM6 gene. (DO)" [https://www.omim.org/entry/613908 "DO"] synonym: "SCA35" EXACT [] synonym: "spinocerebellar ataxia 35" EXACT [] xref: MIM:613908 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050983 name: spinocerebellar ataxia type 36 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene. (DO)" [https://ghr.nlm.nih.gov/condition/spinocerebellar-ataxia-type-36 "DO"] synonym: "SCA36" EXACT [] synonym: "spinocerebellar ataxia 36" EXACT [] xref: MIM:614153 xref: NCI:C148316 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050984 name: spinocerebellar ataxia type 37 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia and dysarthria, presenting in mid-adulthood, and has_material_basis_in mutation to the DAB1 gene. (DO)" [https://www.omim.org/entry/615945 "DO"] synonym: "SCA37" EXACT [] synonym: "spinocerebellar ataxia 37" EXACT [] xref: MIM:615945 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-08-08T00:00:00Z [Term] id: DOID:0050985 name: spinocerebellar ataxia type 38 def: "An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and nystagmus, presenting in mid-adulthood, and has_material_basis_in mutation to the ELOVL5 gene. (DO)" [https://www.omim.org/entry/615957 "DO"] synonym: "SCA38" EXACT [] synonym: "spinocerebellar ataxia 38" EXACT [] xref: EFO:0009056 xref: MIM:615957 xref: MONDO:0014417 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:0050986 name: spinocerebellar ataxia type 40 def: "An autosomal dominant cerebellar ataxia that is characterized by progressive gait abnormalities, dysarthria, tremor and hyporeflexia, has_material_basis_in mutation in the CCDC88C gene. (DO)" [https://www.omim.org/entry/616053 "DO"] synonym: "CCDC88C-RELATED CONDITION" BROAD [] synonym: "SCA40" EXACT [] synonym: "spinocerebellar ataxia 40" EXACT [] xref: EFO:0009057 xref: MIM:616053 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:0050987 name: hypomyelinating leukoencephalopathy def: "An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22232354 "DO"] is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0050988 name: GRID2-related spinocerebellar ataxia def: "An autosomal dominant cerebellar ataxia that is characterized by cognitive delay, abnormal eye movements, and hearing loss. (DO)" [https://rarediseases.org/rare-diseases/autosomal-dominant-hereditary-ataxia/ "DO"] is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050989 name: episodic ataxia type 1 alt_id: MIM:160120 def: "An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. (DO)" [https://www.omim.org/entry/160120 "DO"] synonym: "AEM" EXACT [] synonym: "AEMK" EXACT [] synonym: "EA1" EXACT [] synonym: "EAM" EXACT [] synonym: "episodic ataxia with myokymia" EXACT [] synonym: "hereditary continuous muscle fiber activity" NARROW [] synonym: "hereditary paroxysmal ataxia with neuromyotonia" EXACT [] synonym: "ISAACS-MERTENS SYNDROME" NARROW [] synonym: "MYOKYMIA 1 WITH HYPOMAGNESEMIA" NARROW [] synonym: "MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA" NARROW [] synonym: "myokymia with periodic ataxia" EXACT [] synonym: "myokymia with periodic ataxia 1" NARROW [] xref: MESH:C563278 is_a: DOID:9003935 ! Myokymia is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050990 name: episodic ataxia type 2 alt_id: MIM:108500 def: "An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. (DO)" [https://www.omim.org/entry/108500 "DO"] synonym: "acetazolamide-responsive episodic ataxia syndrome" EXACT [] synonym: "Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia" EXACT [] synonym: "APCA" EXACT [] synonym: "Ataxia, Familial Paroxysmal" EXACT [] synonym: "CAPA" EXACT [] synonym: "Cerebellar ataxia, paroxysmal, Acetazolamide-responsive" EXACT [] synonym: "Cerebellopathy, hereditary paroxysmal" EXACT [] synonym: "EA2" EXACT [] synonym: "EPISODIC ATAXIA, TYPE 2, AND EPILEPSY" NARROW [] synonym: "Episodic ataxia with nystagmus" EXACT [] synonym: "nystagmus-associated episodic ataxia" EXACT [] xref: MESH:C535506 xref: NCI:C202603 is_a: DOID:963 ! episodic ataxia is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:0050991 name: episodic ataxia type 3 alt_id: MIM:606554 alt_id: RDO:0013568 def: "An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.omim.org/entry/606554 "DO"] synonym: "EA3" EXACT [] synonym: "episodic ataxia with vertigo and tinnitus" EXACT [] xref: MESH:C564697 is_a: DOID:9001733 ! Tinnitus is_a: DOID:963 ! episodic ataxia is_a: DOID:9847 ! peripheral vertigo [Term] id: DOID:0050992 name: episodic ataxia type 4 alt_id: MIM:606552 def: "An episodic ataxia that is characterized by vertigo and diplopia. (DO)" [https://www.omim.org/entry/606552 "DO"] synonym: "Periodic Vestibulocerebellar Ataxia" EXACT [] xref: MESH:C564698 is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050993 name: episodic ataxia type 5 alt_id: MIM:613855 def: "An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene. (DO)" [https://www.omim.org/entry/613855 "DO"] synonym: "EA5" EXACT [] xref: MESH:C566601 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050994 name: episodic ataxia type 6 alt_id: MIM:612656 def: "An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. (DO)" [https://www.omim.org/entry/612656 "DO"] synonym: "EA6" EXACT [] xref: MESH:C567207 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050995 name: episodic ataxia type 7 alt_id: MIM:611907 def: "An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.omim.org/entry/611907 "DO"] synonym: "EA7" EXACT [] xref: MESH:C567459 is_a: DOID:963 ! episodic ataxia [Term] id: DOID:0050996 name: episodic ataxia type 8 def: "An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene. (DO)" [https://www.omim.org/entry/616055 "DO"] xref: MIM:616055 is_a: DOID:963 ! episodic ataxia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0050997 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome def: "A syndrome characterized by congenital onset of nonprogressive cerebellar ataxia, disturbed equilibrium, and mental retardation, associated with cerebellar hypoplasia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21885617/ "DO", https://pubmed.ncbi.nlm.nih.gov/33981800/ "DO", https://pubmed.ncbi.nlm.nih.gov/38109455/ "DO", https://pubmed.ncbi.nlm.nih.gov/38581205/ "DO"] synonym: "autosomal recessive cerebellar ataxia with mental retardation" EXACT [] synonym: "autosomal recessive cerebellar hypoplasia with cerebral gyral simplification" EXACT [] synonym: "CAMRQ" EXACT [] synonym: "CAMRQ syndrome" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome" EXACT [] synonym: "cerebellar ataxia, mental retardation and dysequlibrium syndrome" EXACT [] synonym: "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion" EXACT [] synonym: "congenital cerebellar ataxia and mental retardation, autosomal recessive" EXACT [] synonym: "DES" EXACT [] synonym: "disequilibrium syndrome" RELATED [] synonym: "dysequilibrium syndrome" EXACT [] synonym: "nonprogressive cerebellar disorder with mental retardation" EXACT [] synonym: "Uner Tan syndrome" EXACT [] synonym: "UTS" EXACT [] xref: GARD:1998 xref: MESH:C535731 xref: MIM:PS224050 xref: MONDO:0009133 xref: OMIA:001947 xref: ORDO:1766 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome [Term] id: DOID:0050998 name: nonprogressive cerebellar ataxia with mental retardation def: "An autosomal dominant cerebellar ataxia that is characterized by early onset of nonprogressive cerebellar ataxia, developmental delay, intellectual impairment and cerebellar atrophy, and has_material_basis_in autosomal dominant inheritance of mutation in the CAMTA1 gene. (DO)" [https://www.omim.org/entry/614756 "DO", MIM:614756] synonym: "CAMTA1-RELATED CONDITION" EXACT [] synonym: "CANPMR" EXACT [] synonym: "CECBA" EXACT [] synonym: "CEREBELLAR DYSFUNCTION WITH VARIABLE COGNITIVE AND BEHAVIORAL ABNORMALITIES" EXACT [] synonym: "NONPROGRESSIVE CEREBELLAR ATAXIA WITH INTELLECTUAL DISABILITY" EXACT [] xref: MIM:614756 is_a: DOID:1059 ! intellectual disability is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0050999 name: autosomal recessive spinocerebellar ataxia 10 def: "An autosomal recessive cerebellar ataxia that is characterized by ataxia, dysarthria, nystagmus and marked cerebellar atrophy, has_material_basis_in mutation in the ANO10 gene. (DO)" [https://www.omim.org/entry/613728 "DO"] synonym: "SCAR10" EXACT [] xref: MIM:613728 xref: MONDO:0013392 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0060000 name: infective endocarditis def: "An endocarditis that is characterized by inflammation of the endocardium caused by infectious agents. (DO)" [http://en.wikipedia.org/wiki/Endocarditis "DO", http://en.wikipedia.org/wiki/Infective_endocarditis "DO"] synonym: "infective endocarditides" EXACT [] xref: GARD:6337 is_a: DOID:10314 ! endocarditis is_a: DOID:104 ! bacterial infectious disease is_a: DOID:1564 ! fungal infectious disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060001 name: withdrawal disorder def: "A substance-related disorder that occurs upon the abrupt discontinuation/separation or a decrease in dosage of the intake of medications, recreational drugs, and alcohol. (DO)" [http://en.wikipedia.org/wiki/Withdrawal "DO"] synonym: "alcohol withdrawal" NARROW [] synonym: "Drug Withdrawal Symptom" EXACT [] synonym: "drug withdrawal symptoms" EXACT [] synonym: "Substance Withdrawal Syndrome" EXACT [] synonym: "Substance Withdrawal Syndromes" EXACT [] synonym: "Withdrawal Symptom" EXACT [] synonym: "withdrawal symptoms" EXACT [] xref: EFO:0004777 xref: EFO:0005800 xref: MESH:D013375 is_a: DOID:303 ! substance-related disorder [Term] id: DOID:0060002 name: C1 inhibitor deficiency def: "A complement deficiency that is a functional deficiency in the complement component C1 inhibitor leading to hereditary angioedema (HAE) involving swelling due to leakage of fluid from blood vessels into connective tissue. (DO)" [http://en.wikipedia.org/wiki/C1-inhibitor#Role_in_disease "DO"] synonym: "C1 esterase inhibitor deficiency" EXACT [] synonym: "deficiency of C1 esterase inhibitor" EXACT [] synonym: "Quincke edema" EXACT [] is_a: DOID:626 ! complement deficiency created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060004 name: autoimmune disease of central nervous system def: "An autoimmune hypersensitivity disease located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] xref: EFO:0020092 is_a: DOID:331 ! central nervous system disease is_a: DOID:438 ! autoimmune disease of the nervous system created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060005 name: autoimmune disease of endocrine system def: "An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:28 ! endocrine system disease is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060007 name: CD3zeta deficiency def: "A severe combined immunodeficiency that affects the development and function of T cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16264327 "DO"] is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060008 name: janus kinase-3 deficiency def: "A severe combined immunodeficiency that is characterized by severe cell-mediated and antibody-mediated immunodeficiency with recurrent bacterial, viral, and fungal infections, develops_from janus kinase-3 deficiency, and has_material_basis_in autosomal recessive inheritance of mutation in the JAK3 gene of chromosome 19p13.11, responsible for normal differentiation and maturation of B and T immune cells. (DO)" [https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency#inheritance "DO"] xref: EFO:0005565 xref: RDO:9002904 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060009 name: MHC class I deficiency alt_id: MIM:604571 def: "A severe combined immunodeficiency that is characterized by recurrent bacterial, viral, and fungal infections, especially of the lung, and sterile necrotizing granulomas of the skin, develops_from deficiency or decreased surface expression of MHC Class I, has_material_basis_in autosomal recessive inheritance of mutation affecting MHC Class I production or expression and frequently involves TAP1 and TAP2 subunits, and is typically asymptomatic in infancy. (DO)" [https://en.wikipedia.org/wiki/Bare_lymphocyte_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25001848 "DO"] synonym: "BARE LYMPHOCYTE SYNDROME TYPE 1" EXACT [] synonym: "Bare Lymphocyte Syndrome, Type I" EXACT [] synonym: "BLSI" EXACT [] synonym: "BLS, Type I" EXACT [] synonym: "HLA Class I Deficiency" EXACT [] xref: MESH:C565759 xref: NCI:C171267 xref: RDO:0014312 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060010 name: Omenn syndrome alt_id: MIM:603554 def: "A severe combined immunodeficiency that has_material_basis_in the RAG1 and RAG2 genes on chromosome 11p and the Artemis gene on chromosome 10p. It is characterized by erythroderma, desquamation, alopecia, chronic diarrhea, failure to thrive, lymphadenopathy, and hepatosplenomegaly. (DO)" [https://en.wikipedia.org/wiki/Omenn_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/11213808 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14328107 "DO"] synonym: "combined immunodeficiency with hypereosinophilia" EXACT [] synonym: "familial reticuloendotheliosis, with eosinophilia" EXACT [] synonym: "Omenn's syndrome" EXACT [] synonym: "Omenns syndrome" EXACT [] synonym: "severe combined immunodeficiency with hypereosinophilia" EXACT [] xref: GARD:8198 xref: ICD10CM:D81.8 xref: MESH:C538564 xref: NCI:C61240 is_a: DOID:225 ! syndrome is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:9001371 ! Eosinophilia [Term] id: DOID:0060011 name: recombinase activating gene 1 deficiency def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG1 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)" [http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html "DO"] xref: MONDO:0000572 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060012 name: recombinase activating gene 2 deficiency def: "A severe combined immunodeficiency that is the result of a mutation on Chromosome 6 RAG2 gene involving genetic rearrangement of both the T- and B-lymphocyte receptor genes. (DO)" [http://medicine.jrank.org/pages/2840/Severe-Combined-Immune-Deficiency.html "DO"] synonym: "RAG2 DEFICIENCY" EXACT [] xref: EFO:0009651 xref: RDO:9002906 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060013 name: X-linked severe combined immunodeficiency def: "A severe combined immunodeficiency that is a X-linked SCID that has_material_basis_in mutations in genes encoding common gamma chain proteins shared by the interleukin (IL-2,4,7,9,16 and21) receptors resulting in a non-functional gamma chain, defective interleukin signalling, minimal or ascent T- and NK cells and non-functional B-cells. (DO)" [http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO", https://ghr.nlm.nih.gov/condition/x-linked-severe-combined-immunodeficiency#synonyms "DO"] synonym: "gamma chain deficiency" EXACT [] synonym: "IMD4" EXACT [] synonym: "Immunodeficiency 4" EXACT [] synonym: "SCIDX" EXACT [] synonym: "SCID-X1" EXACT [] synonym: "SCIDX1" EXACT [] synonym: "thymic epithelial hypoplasia" EXACT [] synonym: "X-linked SCID" EXACT [] synonym: "X-linked severe combined immunodeficiency disease" EXACT [] synonym: "X-linked severe combined immunodeficiency, T-cell negative, B-cell positive, NK-cell negative" EXACT [] synonym: "X-SCID" EXACT [] synonym: "XSCID" EXACT [] xref: EFO:0005555 xref: EFO:1001451 xref: GARD:5618 xref: MIM:300400 xref: NCI:C4682 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060014 name: CD45 deficiency def: "A severe combined immunodeficiency that is an autosomal recessive disease with T and B lymphocyte dysfunction, due to a large deletion at one allelle and a point mutation at the other. The point mutation resulted in the alteration of intervening sequence 13 donor splice site. The population of T lymphocytes is diminished and unresponsive to mitogen stimulation. The level of B lymphocyte numbers, serum immunoglobulin decreased with age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29366662 "DO"] is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060016 name: CD3delta deficiency def: "A severe combined immunodeficiency that is characterized by the absence of T cells but normal numbers of B cells. CD3D is essential for T cell development. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15640687 "DO"] synonym: "CD3D" EXACT [] is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060017 name: CD3epsilon deficiency def: "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3epsilon chain precursors. Patients with CD3epsilon deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16264327 "DO"] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060018 name: CD3gamma deficiency def: "A severe combined immunodeficiency that has_material_basis_in autosomal recessive mutations in the gene coding for T-cell surface glycoprotein CD3gamma chain precursors. Patients with CD3gamma deficiency have a severe defect in the expression of the T-cell receptor CD3-complex. Affected patients have decreased T-cell numbers and function; B cells are variably affected. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16264327 "DO"] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060019 name: coronin-1A deficiency def: "A severe combined immunodeficiency that is an actin regulator when mutated results in SCID through inhibition of thymic egress of mature thymocytes into peripheral lymphoid organs. (DO)" [http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2672406/?tool=pubmed "DO"] synonym: "IMD8" EXACT [] synonym: "immunodeficiency 8" EXACT [] synonym: "immunodeficiency-8 with lymphoproliferation" EXACT [] synonym: "T-CELL IMMUNODEFICIENCY WITH EPIDERMODYSPLASIA VERRUCIFORMIS" RELATED [] xref: MIM:615401 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060020 name: reticular dysgenesis alt_id: MIM:242880 alt_id: MIM:267500 def: "A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. (DO)" [http://www.ncbi.nlm.nih.gov/gene/11151?ordinalpos=2&itool=EntrezSystem2.PEntrez.Gene.Gene_ResultsPanel.Gene_RVDocSum "DO", http://www.ncbi.nlm.nih.gov/gene/204? "DO"] synonym: "aleukocytosis" EXACT [] synonym: "congenital aleukia" EXACT [] synonym: "De Vaal Disease" EXACT [] synonym: "DeVaal disease" EXACT [] synonym: "Hematopoietic Hypoplasia, Generalized" EXACT [] synonym: "Immunoerythromyeloid Hypoplasia" EXACT [] synonym: "reticular dysgenesia" EXACT [] synonym: "severe combined immunodeficiency with leukopenia" EXACT [] xref: GARD:8625 xref: MESH:C538361 xref: NCI:C27070 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:615 ! leukopenia is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0060021 name: DNA ligase IV deficiency alt_id: MIM:606593 def: "A combined T cell and B cell immunodeficiency that has_material_basis_in a mutation in the LIG4 gene, a DNA ligase, encoding a protein essential for V(D)J recombination and DNA double-strand break (DSB) repair through nonhomologous end joining (NHEJ). Patients present with immunodeficiency and developmental and growth delay. (DO)" [http://omim.org/entry/606593 "DO", http://www.ncbi.nlm.nih.gov/gene/3981 "DO"] synonym: "DNA Ligase IV Syndrome" EXACT [] synonym: "LIG4-related disorder" EXACT [] synonym: "LIG4-related disorders" EXACT [] synonym: "LIG4 Syndrome" EXACT [] synonym: "PRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSISPRENATAL LIG4 SYNDROME WITH AQUEDUCTAL STENOSIS" NARROW [] xref: MESH:C564694 xref: NCI:C122657 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060022 name: CD40 ligand deficiency def: "A combined T cell and B cell immunodeficiency that is a X-linked immunodeficiency with hyperimmunoglobulin M (XHIM) affecting isotype switching and is caused by the absence of CD40 ligand which is normally expressed on activated CD4+ T cells. Individuals with this mutation are unable to switch from IgM to IgG, IgA and IgE. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30681380 "DO"] synonym: "HIGM1" EXACT [] synonym: "HIGM1 syndrome" EXACT [] synonym: "HIGM1 syndromes" EXACT [] synonym: "HIGMX-1" EXACT [] synonym: "hyper-IgM immunodeficiency syndrome, type 1" EXACT [] synonym: "Hyper IgM Syndrome 1" EXACT [] synonym: "IHIS" EXACT [] synonym: "IMD3" EXACT [] synonym: "IMMUNODEFICIENCY 3" EXACT [] synonym: "Immunodeficiency with Hyper IgM, Type 1" EXACT [] synonym: "IMMUNODEFICIENCY, X-LINKED, WITH HYPER-IGM" EXACT [] synonym: "XHIGM" EXACT [] synonym: "XHIM" EXACT [] synonym: "X-linked hyper-IgM immunodeficiencies" EXACT [] synonym: "X-linked hyper-IgM immunodeficiency" EXACT [] synonym: "X-linked hyper-IgM syndrome" EXACT [] synonym: "X-linked hyper-immunoglobulin M (IgM) syndrome" EXACT [] xref: MESH:D053307 xref: MIM:308230 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2959 ! hyperimmunoglobulin syndrome is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:0060023 name: immunodeficiency with hyper IgM type 3 def: "A hyper IgM syndrome that has_material_basis_in mutation in the TNFRSF5 gene, resulting in type 3 hyper-IgM immunodeficiency that is characterized by an inability of B cells to undergo isotype switching, an inability to mount an antibody-specific immune response, and a lack of germinal center formation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11675497 "DO"] synonym: "CD40 deficiency" EXACT [] synonym: "CD40-RELATED CONDITION" EXACT [] synonym: "HIGM3" EXACT [] synonym: "HIGM3 syndrome" EXACT [] synonym: "Hyper IgM Immunodeficiency Syndrome Type 3" EXACT [] synonym: "hyper IgM syndrome 3" EXACT [] synonym: "hyper-IgM syndrome due to CD40 deficiency" EXACT [] synonym: "type 3 hyper-IgM immunodeficiency" EXACT [] xref: GARD:10579 xref: MIM:606843 xref: NCI:C176416 xref: ORDO:101090 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080544 ! hyper IgM syndrome is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060024 name: lambda 5 deficiency def: "A B cell deficiency that has_material_basis_in mutations in the IGLL1 gene. Lambda 5 mutations can cause a block in B cell development at the transition between the pro-B cell and the pre-B cell stage. (DO)" [http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=146770 "DO", http://www.ncbi.nlm.nih.gov/gene/3543? "DO"] is_a: DOID:0050177 ! monogenic disease is_a: DOID:2115 ! B cell deficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060025 name: immunoglobulin alpha deficiency def: "A B cell deficiency that is an autosomal recessive disorder that has_material_basis_in mutation in the IgA (CD79 alpha) antigen receptor. (DO)" [http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency "DO", http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=112205 "DO", http://www.ncbi.nlm.nih.gov/gene/973? "DO"] synonym: "gamma-A-globulin deficiency" EXACT [] synonym: "IgA deficiencies" EXACT [] synonym: "IgA deficiency" EXACT [] xref: EFO:1001929 xref: GARD:10197 xref: MESH:D017098 xref: ORDO:69127 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11702 ! dysgammaglobulinemia is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:0060026 name: immunoglobulin beta deficiency def: "A B cell deficiency that is characterized by mucosal infections and autoimmune diseases due to lack of production of immunoglobulin A antibody, and has_material_basis_in autosomal recessive inheritance. (DO)" [https://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency "DO"] synonym: "CD79B Deficiency" EXACT [] synonym: "IgB Deficiency" EXACT [] synonym: "Immunodeficiency, Hypogammaglobulinemia, and Reduced B Cells" EXACT [] xref: MESH:C567200 xref: RDO:0015341 is_a: DOID:2115 ! B cell deficiency is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0060027 name: agammaglobulinemia 4 alt_id: RDO:0009901 def: "An agammaglobulinemia that has_material_basis_in a mutation a homozygous mutation in the BLNK gene on chromosome 10q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10583958 "DO"] synonym: "AGM4" EXACT [] synonym: "autosomal recessive agammaglobulinemia 4" EXACT [] synonym: "autosomal recessive agammaglobulinemia due to BLNK defect" EXACT [] synonym: "B cell linker protein deficiency" EXACT [] synonym: "BLNK deficiency" EXACT [] xref: MIM:613502 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0060028 name: Good syndrome def: "A combined T cell and B cell immunodeficiency that is a condition where there is co-occurrence of deficient cell-mediated immunity and benign thymoma. (DO)" [http://en.wikipedia.org/wiki/Good_syndrome "DO", https://www.ncbi.nlm.nih.gov/articles/PMC3102047/ "DO"] synonym: "thymoma with hypogammaglobulinemia" EXACT [] is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:3275 ! thymoma is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:0060029 name: autoimmune disease of exocrine system def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060030 name: autoimmune disease of eyes, ear, nose and throat def: "An autoimmune disease located_in eyes, located_in ears, located_in nose and located_in throat. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:0050155 ! sensory system disease is_a: DOID:438 ! autoimmune disease of the nervous system created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060031 name: autoimmune disease of gastrointestinal tract def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the gastrointestinal tract. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] synonym: "IMMUNODEFICIENCY AND AUTOIMMUNE ENTEROCOLOPATHY" NARROW [] is_a: DOID:417 ! autoimmune disease is_a: DOID:77 ! gastrointestinal system disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060032 name: autoimmune disease of musculoskeletal system def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060033 name: autoimmune disease of peripheral nervous system def: "An autoimmune disease of the nervous system that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the peripheral nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] xref: RDO:9002712 is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:574 ! peripheral nervous system disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060034 name: dropped head syndrome alt_id: DOID:9009019 def: "A spinal disease that is characterized by severe kyphotic deformity of the cervicothoracic spine and by severe weakness of the cervical paraspinal muscles that results in the passively correctable chin-on-chest deformity. This syndrome is defined by weakness of neck extensor muscles against gravity with or without weakness of neck flexor muscles. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23203936/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3621852/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6763751 "DO"] synonym: "Dropped Head Syndromes" EXACT [] synonym: "floppy head syndrome" EXACT [] xref: EFO:1001987 is_a: DOID:0060564 ! spinal disease is_a: DOID:225 ! syndrome is_a: DOID:9004757 ! Axial Myopathy, Late-Onset created_by: mtutaj creation_date: 2022-11-30T18:56:52Z [Term] id: DOID:0060036 name: intrinsic cardiomyopathy def: "A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (DO)" [https://en.wikipedia.org/wiki/Cardiomyopathy "DO"] is_a: DOID:0050700 ! cardiomyopathy created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:0060037 name: developmental disorder of mental health def: "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development. (DO)" [http://en.wikipedia.org/wiki/Developmental_disorders "DO"] xref: EFO:0005548 xref: RDO:9003240 is_a: DOID:150 ! disease of mental health created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060038 name: specific developmental disorder def: "A developmental disorder of mental health that categorizes specific learning disabilities and developmental disorders affecting coordination. (DO)" [http://en.wikipedia.org/wiki/Specific_developmental_disorder "DO"] is_a: DOID:0060037 ! developmental disorder of mental health [Term] id: DOID:0060039 name: autoimmune disease of skin and connective tissue def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the skin and connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060040 name: pervasive developmental disorder alt_id: DOID:9000537 def: "A developmental disorder of mental health that refers to a group of five disorders characterized by impairments in socialization and communication, as well as restricted interests and repetitive behaviors. (DO)" [https://www.ninds.nih.gov/health-information/disorders/pervasive-developmental-disorders "DO"] synonym: "pervasive child development disorders" EXACT [] synonym: "pervasive development disorder" EXACT [] synonym: "pervasive development disorders" EXACT [] xref: ICD9CM:299.80 xref: MESH:D002659 xref: NCI:C97179 is_a: DOID:0060037 ! developmental disorder of mental health is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060041 name: autism spectrum disorder def: "A pervasive developmental disorder that is a spectrum of psychological conditions. The disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior. (DO)" [http://en.wikipedia.org/wiki/Autism_spectrum_disorder "DO", http://www.neurodevnet.ca "DO", https://www.genome.gov/Genetic-Disorders/Autism "DO"] synonym: "ASD" EXACT [] synonym: "Autism Spectrum Disorders" EXACT [] synonym: "AUTISM, SUSCEPTIBLITY TO" RELATED [] synonym: "Autistic spectrum disorder with isolated skills" NARROW [] synonym: "familial autism spectrum disorder" NARROW [] synonym: "NRXN2-RELATED AUTISM SPECTRUM DISORDER" NARROW [] xref: EFO:0003756 xref: GARD:10248 xref: MESH:D000067877 xref: NCI:C88412 is_a: DOID:0060040 ! pervasive developmental disorder [Term] id: DOID:0060042 name: atypical autism def: "An autism spectrum disorder that involves some autistic symptoms occurring after age 3 with an absence of all the traits necessary for a diagnosis of autism. (DO)" [http://counsellingresource.com/distress/autistic/autism-atypical.html "DO", https://kidsbrainhealth.ca "DO", https://www.thehealthboard.com/what-is-atypical-autism.htm "DO"] synonym: "PDD" EXACT [] synonym: "pervasive developmental disorder" EXACT [] xref: EFO:0003759 xref: MONDO:0016052 is_a: DOID:0060041 ! autism spectrum disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060043 name: sexual health disorder def: "A disease of mental health that involves the impairment in normal sexual functioning. (DO)" [https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction "DO"] synonym: "Frigidity" EXACT [] synonym: "Orgasmic Disorder" EXACT [] synonym: "orgasmic disorders" EXACT [] synonym: "Sexual Arousal Disorder" EXACT [] synonym: "Sexual Arousal Disorders" EXACT [] synonym: "Sexual Aversion Disorder" EXACT [] synonym: "sexual aversion disorders" EXACT [] synonym: "sexual disorder" EXACT [] xref: MESH:D020018 is_a: DOID:150 ! disease of mental health [Term] id: DOID:0060044 name: paraphilia disorder def: "A sexual disorder that is characterized recurrent, intense sexually arousing fantasies, sexual urges or behaviors generally involving nonhuman objects. (DO)" [https://en.wikipedia.org/wiki/Paraphilia "DO"] synonym: "Paraphilia" EXACT [] synonym: "paraphilias" EXACT [] synonym: "Paraphilic Disorder" EXACT [] synonym: "Paraphilic Disorders" EXACT [] synonym: "Sex Deviation" EXACT [] synonym: "sex deviations" EXACT [] xref: MESH:D010262 is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:0060045 name: Munchausen by proxy def: "A factitious disorder that involves a care giver's deliberate exaggeration, fabrication, and/or induce physical, psychological, behavioral, and/or mental health problems in others. (DO)" [http://en.wikipedia.org/wiki/Munchausen_by_proxy "DO"] synonym: "Munchausen syndrome by proxy" EXACT [] xref: MESH:D016735 is_a: DOID:1766 ! factitious disorder [Term] id: DOID:0060046 name: aphasia def: "A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. (DO)" [http://en.wikipedia.org/wiki/Aphasia "DO"] synonym: "Acquired Aphasia" EXACT [] synonym: "Ageusic Aphasia" EXACT [] synonym: "ageusic aphasias" EXACT [] synonym: "Alogia" EXACT [] synonym: "alogias" EXACT [] synonym: "Anepia" EXACT [] synonym: "anepias" EXACT [] synonym: "Auditory Discriminatory Aphasia" EXACT [] synonym: "auditory discriminatory aphasias" EXACT [] synonym: "Commisural Aphasia" EXACT [] synonym: "commisural aphasias" EXACT [] synonym: "Dejerine Lichtheim Phenomenon" EXACT [] synonym: "Dysphasia" EXACT [] synonym: "Functional Aphasia" EXACT [] synonym: "Functional Aphasias" EXACT [] synonym: "Global Aphasia" EXACT [] synonym: "Global Aphasias" EXACT [] synonym: "Global Dysphasia" EXACT [] synonym: "Global Dysphasias" EXACT [] synonym: "Graphomotor Aphasia" EXACT [] synonym: "Graphomotor Aphasias" EXACT [] synonym: "Intellectual Aphasia" EXACT [] synonym: "Intellectual Aphasias" EXACT [] synonym: "Lichtheim's Sign" EXACT [] synonym: "Lichtheim Sign" EXACT [] synonym: "Lichtheims Sign" EXACT [] synonym: "Logagnosia" EXACT [] synonym: "Logagnosias" EXACT [] synonym: "Logamnesia" EXACT [] synonym: "Logamnesias" EXACT [] synonym: "Logasthenia" EXACT [] synonym: "Logasthenias" EXACT [] synonym: "Mixed Aphasia" EXACT [] synonym: "Mixed Aphasias" EXACT [] synonym: "Post-Ictal Aphasia" EXACT [] synonym: "Post-Ictal Aphasias" EXACT [] synonym: "Post-Traumatic Aphasia" EXACT [] synonym: "Post-Traumatic Aphasias" EXACT [] synonym: "Progressive Aphasia" EXACT [] synonym: "progressive aphasias" EXACT [] synonym: "semantic aphasia" EXACT [] synonym: "semantic aphasias" EXACT [] synonym: "syntactical aphasia" EXACT [] synonym: "syntactical aphasias" EXACT [] xref: MESH:D001037 xref: MONDO:0000598 is_a: DOID:93 ! language disorder [Term] id: DOID:0060047 name: writing disorder def: "A learning disability that involves impaired written language ability such as impairments in handwriting, spelling, organization of ideas, and composition. (DO)" [http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities "DO"] is_a: DOID:8927 ! learning disability created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060048 name: nosophobia def: "A specific phobia that involves an irrational fear of contracting a disease. (DO)" [http://en.wikipedia.org/wiki/Nosophobia "DO"] xref: EFO:1001903 is_a: DOID:599 ! specific phobia [Term] id: DOID:0060049 name: autoimmune disease of urogenital tract def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the urogenital tract. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060050 name: autoimmune disease of blood def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the blood. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060051 name: autoimmune disease of cardiovascular system def: "An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the cardiovascular system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459447/ "DO"] synonym: "autoimmune disorder of cardiovascular system" EXACT [] xref: MONDO:0000603 is_a: DOID:1287 ! cardiovascular system disease is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060054 name: autonomic peripheral neuropathy def: "A neuropathy that affects the autonomic nervous system and is characterized by urinary incontinence, gastrointestinal dysmotility, orthostatic hypotension, apneas, sweat disturbances and impotence. (DO)" [https://en.wikipedia.org/wiki/Autonomic_neuropathy "DO"] is_a: DOID:870 ! neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060055 name: popliteal pterygium syndrome alt_id: MIM:119500 def: "A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1. (DO)" [http://ghr.nlm.nih.gov/condition/popliteal-pterygium-syndrome "DO", https://en.wikipedia.org/wiki/Popliteal_pterygium_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2352260 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4384166 "DO"] synonym: "cleft lip-palate, paramedian mucous cysts of the lower lip, popliteal pterygium, digital and genital anomalies" EXACT [] synonym: "facio-genito-popliteal syndrome" EXACT [] synonym: "faciogenitopopliteal syndrome" EXACT [] synonym: "popliteal web syndrome" EXACT [] synonym: "PPS" EXACT [] xref: GARD:3242 xref: MESH:C562509 xref: NCI:C118786 xref: ORDO:1300 xref: ORDO:294963 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:674 ! cleft palate is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060056 name: hypersensitivity reaction disease def: "An immune system disease that has_material_basis_in abnormal immune responses. (DO)" [http://en.wikipedia.org/wiki/Hypersensitivity "DO", http://www.ncbi.nlm.nih.gov/books/NBK27136/ "DO"] xref: EFO:1002003 is_a: DOID:2914 ! immune system disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060057 name: gluten allergy def: "A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. (DO)" [https://acaai.org/allergies/types/food-allergies/types-food-allergy/wheat-gluten-allergy "DO"] synonym: "allergy to gluten" EXACT [] synonym: "gluten allergic reaction" EXACT [] is_a: DOID:3044 ! food allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060058 name: lymphoma def: "A hematologic cancer that affects lymphocytes that reside in the lymphatic system and in blood-forming organs. (DO)" [http://en.wikipedia.org/wiki/Lymphoma "DO", http://www.lymphoma.org/site/pp.asp?c=bkLTKaOQLmK8E&b=6300161 "DO", http://www.nlm.nih.gov/medlineplus/lymphoma.html "DO"] synonym: "EFO:0000574" EXACT [] synonym: "germinoblastic sarcoma" EXACT [] synonym: "germinoblastic sarcomas" EXACT [] synonym: "germinoblastoma" EXACT [] synonym: "germinoblastomas" EXACT [] synonym: "lymphoid cancer" EXACT [] synonym: "lymphomas" EXACT [] synonym: "lymphoma, somatic" NARROW [] synonym: "malignant lymphoma" EXACT [] synonym: "malignant lymphomas" EXACT [] synonym: "reticulolymphosarcoma" EXACT [] synonym: "reticulolymphosarcomas" EXACT [] xref: EFO:0000574 xref: ICD10CM:C85.9 xref: ICDO:9590/3 xref: MESH:D008223 xref: MONDO:0005062 xref: NCI:C128121 xref: NCI:C134786 xref: NCI:C21602 xref: NCI:C3208 xref: NCI:C60448 xref: NCI:C7065 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:2531 ! hematologic cancer is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:0060060 name: non-Hodgkin lymphoma alt_id: MIM:605027 def: "A lymphoma that is characterized as any kind of lymphoma except Hodgkin's lymphoma. (DO)" [http://en.wikipedia.org/wiki/Non-Hodgkin_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=45148 "DO"] synonym: "diffuse lymphoma" EXACT [] synonym: "diffuse lymphomas" EXACT [] synonym: "diffuse mixed cell lymphoma" EXACT [] synonym: "diffuse mixed-cell lymphomas" EXACT [] synonym: "Diffuse Mixed Small and Large Cell Lymphoma" EXACT [] synonym: "Diffuse Small Cleaved Cell Lymphoma" EXACT [] synonym: "Diffuse Undifferentiated Lymphoma" EXACT [] synonym: "diffuse undifferentiated lymphomas" EXACT [] synonym: "EFO:0005952" EXACT [] synonym: "High-Grade Lymphoma" EXACT [] synonym: "high-grade lymphomas" EXACT [] synonym: "Intermediate-Grade Lymphoma" EXACT [] synonym: "intermediate-grade lymphomas" EXACT [] synonym: "Low-Grade Lymphoma" EXACT [] synonym: "low-grade lymphomas" EXACT [] synonym: "Lymphatic Sarcoma" EXACT [] synonym: "lymphatic sarcomas" EXACT [] synonym: "Lymphoma, Atypical Diffuse Small Lymphoid" EXACT [] synonym: "Lymphoma, Diffuse, Mixed Lymphocytic-Histiocytic" EXACT [] synonym: "Lymphoma, Nonhodgkin" EXACT [] synonym: "Lymphoma, Non-Hodgkin, Familial" EXACT [] synonym: "Lymphoma, Non-Hodgkin, Susceptibility To" RELATED [] synonym: "Lymphoma, Small and Large Cleaved-Cell, Diffuse" EXACT [] synonym: "Lymphosarcoma" EXACT [] synonym: "lymphosarcomas" EXACT [] synonym: "Mixed Cell Lymphoma" EXACT [] synonym: "mixed-cell lymphomas" EXACT [] synonym: "Mixed Lymphocytic-Histiocytic Lymphoma" EXACT [] synonym: "mixed lymphocytic-histiocytic lymphomas" EXACT [] synonym: "Mixed Lymphoma" EXACT [] synonym: "mixed lymphomas" EXACT [] synonym: "NHL" EXACT [] synonym: "non-Hodgkin's lymphoma" EXACT [] synonym: "non-Hodgkin malignant lymphoma" EXACT [] synonym: "non-Hodgkins lymphoma" EXACT [] synonym: "pleomorphic lymphoma" EXACT [] synonym: "pleomorphic lymphomas" EXACT [] synonym: "small non cleaved cell lymphoma" EXACT [] synonym: "small noncleaved cell lymphoma" EXACT [] synonym: "small non-cleaved-cell lymphomas" EXACT [] synonym: "small noncleaved-cell lymphomas" EXACT [] synonym: "undifferentiated lymphoma" EXACT [] synonym: "undifferentiated lymphomas" EXACT [] xref: EFO:0005952 xref: ICDO:9591/3 xref: MESH:D008228 xref: NCI:C179055 xref: NCI:C3211 xref: ORDO:547 is_a: DOID:0060058 ! lymphoma [Term] id: DOID:0060061 name: primary cutaneous T-cell non-Hodgkin lymphoma def: "A peripheral T-cell lymphoma that has_material_basis_in a mutation of T cells. (DO)" [http://en.wikipedia.org/wiki/Cutaneous_T-cell_lymphoma "DO"] synonym: "cutaneous T-cell lymphoma" EXACT [] synonym: "cutaneous T-cell lymphomas" EXACT [] synonym: "EFO:0002913" EXACT [] synonym: "granulomatous slack skin" EXACT [] xref: EFO:0002913 xref: GARD:6226 xref: MESH:D016410 xref: MONDO:0000607 xref: NCI:C186279 xref: NCI:C3467 is_a: DOID:0050749 ! peripheral T-cell lymphoma [Term] id: DOID:0060062 name: familial juvenile hyperuricemic nephropathy def: "A kidney disease that is characterized by hyperuricemia with renal uric acid under-excretion, gout and chronic kidney disease. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21060763 "DO"] synonym: "ADTKD" EXACT [] synonym: "autosomal dominant tubulointerstitial kidney disease" EXACT [] synonym: "FJHN" EXACT [] synonym: "GCKD" EXACT [] synonym: "glomerulocystic kidney disease" EXACT [] synonym: "hereditary interstitial kidney disease" EXACT [] synonym: "HNFJ" EXACT [] synonym: "MCKD" EXACT [] synonym: "medullary cystic kidney disease" EXACT [] synonym: "tubulointerstitial nephritis" EXACT [] xref: MIM:PS162000 xref: ORDO:209886 xref: ORDO:217330 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1920 ! hyperuricemia is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0060063 name: sideroblastic anemia 1 alt_id: MIM:300751 def: "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production. (DO)" [https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia "DO"] synonym: "ALAS2-RELATED CONDITION" BROAD [] synonym: "ANEMIA, HEREDITARY SIDEROBLASTIC 1, PYRIDOXINE REFRACTORY" NARROW [] synonym: "ANH1" EXACT [] synonym: "congenital sideroblastic anaemia" EXACT [] synonym: "Erythroid 5-Aminolevulinate Synthase Deficiency" EXACT [] synonym: "Hereditary Iron-Loading Anemia" EXACT [] synonym: "hereditary sideroblastic anemia" EXACT [] synonym: "sex-linked hypochromic sideroblastic anemia" EXACT [] synonym: "SIDBA1" EXACT [] synonym: "sideroblastic anaemia 1" EXACT [] synonym: "sideroblastic anaemia 1, late-onset" NARROW [] synonym: "X chromosome-linked sideroblastic anemia" EXACT [] synonym: "X-linked pyridoxine-responsive sideroblastic anemia" EXACT [] synonym: "X-linked sideroblastic anaemia" EXACT [] synonym: "X-linked sideroblastic anemia" EXACT [] synonym: "XLSA" EXACT [] xref: GARD:9456 xref: MESH:C536761 is_a: DOID:0050642 ! hypochromic microcytic anemia is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060065 name: autosomal recessive pyridoxine-refractory sideroblastic anemia 2 def: "A sideroblastic anemia that is characterized by microcytic hypochromic anemia and iron overload, and has_material_basis_in autosomal recessive inheritance of mutation in the SLC25A38 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/8249/sideroblastic-anemia-pyridoxine-refractory-autosomal-recessive "DO"] synonym: "autosomal recessive pyridoxine-refractory sideroblastic anaemia 2" EXACT [] synonym: "pyridoxine-refractory autosomal recessive sideroblastic anaemia" EXACT [] synonym: "pyridoxine-refractory autosomal recessive sideroblastic anemia" EXACT [] synonym: "pyridoxine-refractory sideroblastic anemia 2" EXACT [] synonym: "SIDBA2" EXACT [] xref: MESH:C567145 xref: MIM:205950 xref: MONDO:0008785 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060066 name: pyridoxine-responsive sideroblastic anemia alt_id: MIM:206000 def: "A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/9872/sideroblastic-anemia-pyridoxine-responsive-autosomal-recessive "DO"] synonym: "Anemia, Congenital Sideroblastic, B6-Responsive" EXACT [] synonym: "pyridoxine-responsive sideroblastic anemia, autosomal recessive" EXACT [] xref: MESH:C565954 is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060067 name: Pearson syndrome def: "A mitochondrial metabolism disease that is characterized by sideroblastic anemia and exocrine pancreas dysfunction. (DO)" [http://en.wikipedia.org/wiki/Pearson_syndrome "DO"] synonym: "Pearson marrow-pancreas syndrome" EXACT [] synonym: "sideroblastic anemia with marrow cell vacuolization and exocrine pancreatic dysfunction" EXACT [] xref: GARD:7343 xref: MIM:557000 xref: NCI:C115326 is_a: DOID:225 ! syndrome is_a: DOID:700 ! mitochondrial metabolism disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060068 name: nonbacterial thrombotic endocarditis def: "An endocarditis that results from the deposition of small sterile vegetations on valve leaflets. (DO)" [http://en.wikipedia.org/wiki/Marantic_endocarditis "DO"] synonym: "marantic endocarditides" EXACT [] synonym: "marantic endocarditis" EXACT [] synonym: "non-bacterial thrombotic endocarditis" EXACT [] synonym: "non-infective endocarditides" EXACT [] synonym: "non-infective endocarditis" EXACT [] xref: MESH:D059905 is_a: DOID:10314 ! endocarditis [Term] id: DOID:0060071 name: pre-malignant neoplasm def: "A disease of cellular proliferation that results in abnormal growths in the body, which do not invade or destroy the surrounding tissue but, given enough time, will transform into a cancer. (DO)" [http://en.wikipedia.org/wiki/Neoplasm "DO"] synonym: "Clonal Hematopoiesis" NARROW [] synonym: "cutaneous precancerous condition" NARROW [] synonym: "Gallbladder Biliary Intraepithelial Neoplasia" NARROW [] synonym: "Pancreatic Precancerous Condition" NARROW [] synonym: "Precancerous Condition" EXACT [] synonym: "precancerous conditions" EXACT [] synonym: "Preneoplastic Condition" EXACT [] synonym: "preneoplastic conditions" EXACT [] synonym: "Small Intestinal Intraepithelial Neoplasia" NARROW [] xref: EFO:0006892 xref: EFO:1000265 xref: EFO:1000443 xref: EFO:1000536 xref: MESH:D011230 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:0060072 name: benign neoplasm def: "A disease of cellular proliferation that results in abnormal growths in the body which lack the ability to metastasize. (DO)" [http://en.wikipedia.org/wiki/Benign_neoplasm "DO", http://www.nlm.nih.gov/medlineplus/benigntumors.html "DO"] synonym: "benign neoplasms" EXACT [] synonym: "EFO:0002422" EXACT [] xref: EFO:0002422 xref: MONDO:0005165 xref: NCI:C3677 is_a: DOID:14566 ! disease of cellular proliferation created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060073 name: lymphatic system cancer def: "An immune system cancer that is located_in the lymphatic system and is characterized by uncontrolled cellular proliferation of lymphoid tissue. (DO)" [http://en.wikipedia.org/wiki/Lymphatic_system "DO"] is_a: DOID:0060083 ! immune system cancer is_a: DOID:75 ! lymphatic system disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060074 name: ductal carcinoma in situ def: "A breast carcinoma in situ that is characterized by being non-invasive, not having spread outside of the duct into the surrounding breast tissue, has_material_basis_in abnormally proliferating cells, derives_from epithelial cells. (DO)" [https://www.breastcancer.org/symptoms/types/dcis "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=false&q=ductal+carcinoma "DO"] synonym: "Atypical Ductal Hyperplasia" RELATED [] synonym: "Atypical Ductal Hyperplasias" RELATED [] synonym: "DCIS" EXACT [] synonym: "EFO:0000432" EXACT [] synonym: "Intraductal Carcinoma" EXACT [] synonym: "Intraductal Carcinomas" EXACT [] synonym: "noninfiltrating intraductal carcinoma" EXACT [] synonym: "noninfiltrating intraductal carcinomas" EXACT [] xref: EFO:0000432 xref: EFO:0008491 xref: MESH:D002285 is_a: DOID:8791 ! breast carcinoma in situ is_a: DOID:9008138 ! Ductal Carcinoma [Term] id: DOID:0060075 name: estrogen-receptor positive breast cancer def: "A breast cancer that is characterized by the presence of estrogen receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"] synonym: "EFO:1000649" EXACT [] xref: EFO:1000649 xref: RDO:9001776 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060076 name: estrogen-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of estrogen receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"] synonym: "EFO:1000650" EXACT [] xref: EFO:1000650 xref: RDO:9001777 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060077 name: progesterone-receptor positive breast cancer def: "A breast cancer that is characterized by the presence of progesterone receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"] xref: EFO:0009782 xref: RDO:9001778 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060078 name: progesterone-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of progesterone receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25471040 "DO"] synonym: "EFO:0009781" EXACT [] xref: EFO:0009781 xref: RDO:9001779 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060079 name: Her2-receptor positive breast cancer def: "A breast cancer that is characterized by the presence of Her2 receptors. (DO)" [https://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-hormone-receptor-status.html "DO", https://www.sciencedirect.com/science/article/pii/S1470204511703369 "DO"] synonym: "EFO:1000294" EXACT [] xref: EFO:1000294 xref: RDO:9001780 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060080 name: Her2-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of Her2 receptors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25682076 "DO"] xref: EFO:0009780 xref: RDO:9001781 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060081 name: triple-receptor negative breast cancer def: "A breast cancer that is characterized by the absence of estrogen, progresterone and Her2 receptors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22826413 "DO"] synonym: "EFO:0005537" EXACT [] xref: EFO:0005537 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060082 name: breast benign neoplasm def: "A thoracic benign neoplasm that is characterized by lack of malignancy. (DO)" [https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions.html "DO"] xref: RDO:9003366 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:9008939 ! Breast Neoplasms [Term] id: DOID:0060083 name: immune system cancer def: "An organ system cancer located_in the immune system that is characterized by uncontrolled cellular proliferation in organs of the immune system. (DO)" [http://en.wikipedia.org/wiki/Immune_system "DO"] is_a: DOID:0050686 ! organ system cancer is_a: DOID:2914 ! immune system disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0060084 name: cell type benign neoplasm def: "A benign neoplasm that is classified by the type of cell or tissue from which it is derived. (DO)" [http://en.wikipedia.org/wiki/Benign_tumor "DO"] synonym: "EFO:0002422" EXACT [] xref: EFO:0002422 is_a: DOID:0060072 ! benign neoplasm is_a: DOID:9002052 ! Neoplasms by Histologic Type created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060085 name: organ system benign neoplasm alt_id: DOID:1789 def: "A benign neoplasm that is classified by the organ system from which it is arising from. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3677 "DO"] synonym: "EFO:0002422" EXACT [] xref: EFO:0002422 is_a: DOID:0060072 ! benign neoplasm is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:0060086 name: female reproductive organ benign neoplasm def: "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the female reproductive system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK9559/ "DO"] is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:9007399 ! Female Genital Neoplasms [Term] id: DOID:0060087 name: male reproductive organ benign neoplasm def: "A reproductive organ benign neoplasm that is characterized by a lack of malignancy located_in the male reproductive system. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK9556/ "DO"] xref: RDO:9002414 is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:9003125 ! Male Genital Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060088 name: vestibular gland benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the vestibular gland. (DO)" [https://en.wikipedia.org/wiki/Bartholin%27s_gland "DO", https://link.springer.com/chapter/10.1007/978-3-642-74828-8_4 "DO"] is_a: DOID:0060086 ! female reproductive organ benign neoplasm created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060089 name: endocrine organ benign neoplasm def: "An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO)" [http://en.wikipedia.org/wiki/Endocrine_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9007803 ! Endocrine Gland Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060090 name: central nervous system benign neoplasm def: "A nervous system benign neoplasm that is characterized by lack of malignancy. (DO)" [https://www.cancer.gov/types/brain/patient/adult-brain-treatment-pdq "DO"] is_a: DOID:0060115 ! nervous system benign neoplasm is_a: DOID:9007701 ! Central Nervous System Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060091 name: cardiovascular organ benign neoplasm def: "An organ system benign neoplasm disease located_in the blood, heart, blood vessels or the lymphatic system. (DO)" [http://en.wikipedia.org/wiki/Cardiovascular_system#Human_cardiovascular_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:1287 ! cardiovascular system disease created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060092 name: immune system organ benign neoplasm def: "An organ system benign neoplasm located_in the immune system organs. (DO)" [http://en.wikipedia.org/wiki/Immune_system "DO"] xref: RDO:9002422 is_a: DOID:0060085 ! organ system benign neoplasm [Term] id: DOID:0060094 name: bone benign neoplasm def: "A connective tissue benign neoplasm that is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Bone_tumor "DO"] is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:0080001 ! bone disease [Term] id: DOID:0060095 name: uterine benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the uterus. (DO)" [https://en.wikipedia.org/wiki/Uterine_fibroid "DO", https://www.ncbi.nlm.nih.gov/books/NBK9559/ "DO"] xref: RDO:9002424 is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9004268 ! Uterine Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060096 name: sensory organ benign neoplasm def: "A nervous system benign neoplasm that is located_in a sensory organ. (DO)" [http://en.wikipedia.org/wiki/Sensory_system "DO"] is_a: DOID:0050155 ! sensory system disease is_a: DOID:0060115 ! nervous system benign neoplasm [Term] id: DOID:0060097 name: thoracic benign neoplasm def: "An organ system benign neoplam that is located_in the thoracic cavity. (DO)" [http://en.wikipedia.org/wiki/Thoracic_cavity "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:0060118 ! thoracic disease [Term] id: DOID:0060098 name: osteoblastoma def: "A bone benign neoplasm of the bone that is characterized by clinical and histological similarity to osteoid osteomas. (DO)" [https://en.wikipedia.org/wiki/Osteoblastoma "DO"] synonym: "giant osteoid osteoma" EXACT [] synonym: "giant osteoid osteomas" EXACT [] synonym: "osteoblastomas" EXACT [] xref: EFO:1000410 xref: ICDO:9200/0 xref: MESH:D018215 xref: NCI:C3294 is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:9007603 ! Bone Tissue Neoplasms [Term] id: DOID:0060099 name: musculoskeletal system benign neoplasm def: "An organ system benign neoplasm that is located_in the muscular and skeletal organs. (DO)" [http://en.wikipedia.org/wiki/Musculoskeletal_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9003582 ! Muscle Tissue Neoplasms created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0060100 name: musculoskeletal system cancer def: "An organ system cancer located_in the muscular and skeletal organs and characterized by uncontrolled cellular proliferation of the musculoskeletal organs. (DO)" [http://en.wikipedia.org/wiki/Musculoskeletal_system#Diseases_and_disorders "DO"] synonym: "skeletal system cancer" EXACT [] is_a: DOID:0050686 ! organ system cancer is_a: DOID:17 ! musculoskeletal system disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0060102 name: cartilage cancer def: "A connective tissue tumor that can be a benign chondroma or a maligannt chondrosarcoma. (DO)" [https://en.wikipedia.org/wiki/Cartilage_tumor "DO"] is_a: DOID:1222 ! cartilage disease is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:0060103 name: central nervous system embryonal tumor def: "A central nervous system cancer of children and young adults that develops from neural crest cells located_in cerebrum, has_material_basis_in abnormally proliferating cells derives_from neuroectoderm. (DO)" [http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0151465 "DO", https://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor "DO"] synonym: "central nervous system primitive neuroectodermal neoplasm" EXACT [] synonym: "CNS embryonal tumour, NEC/NOS" EXACT [] xref: ICDO:9473/3 xref: NCI:C5398 is_a: DOID:368 ! cerebrum cancer is_a: DOID:9002904 ! Primitive Neuroectodermal Tumors [Term] id: DOID:0060104 name: cerebellar medulloblastoma def: "A cerebellum cancer that begins in the lower part of the brain on the floor of the skull. (DO)" [http://en.wikipedia.org/wiki/Medulloblastoma "DO"] synonym: "EFO:0002939" EXACT [] xref: EFO:0002939 is_a: DOID:0050902 ! medulloblastoma is_a: DOID:4205 ! cerebellum cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060106 name: brain meningioma def: "A brain cancer that is characterized by tumor of the meninges, that develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. (DO)" [https://en.wikipedia.org/wiki/Meningioma "DO"] is_a: DOID:1319 ! brain cancer is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060108 name: brain glioma def: "A brain cancer that has_material_basis_in glial cells. (DO)" [http://cancergenome.nih.gov/cancersselected/lowergradeglioma "DO", http://www.cancer.gov/dictionary?CdrID=45700 "DO"] synonym: "Familial Glioma of Brain" EXACT [] synonym: "lower grade glioma" RELATED [] xref: MESH:C564230 is_a: DOID:1319 ! brain cancer is_a: DOID:3070 ! high grade glioma [Term] id: DOID:0060109 name: vulvar benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the vulva. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25220103 "DO"] is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9005804 ! Vulvar Neoplasms [Term] id: DOID:0060110 name: cervical benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8400047 "DO"] is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:9003373 ! Uterine Cervical Neoplasms [Term] id: DOID:0060111 name: fallopian tube benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the fallopian tube. (DO)" [http://www.glowm.com/section_view/item/8 "DO"] synonym: "Borderline Fallopian Tube Serous Neoplasm" NARROW [] xref: EFO:1000134 xref: RDO:9003381 is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9000189 ! Fallopian Tube Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060112 name: ovarian benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24992780 "DO"] synonym: "Benign Ovarian Endometrioid Tumor" NARROW [] synonym: "Benign Ovarian Surface Epithelial-Stromal Tumor" NARROW [] synonym: "ovarian adenoma benign" NARROW [] xref: EFO:0002507 xref: EFO:1000113 xref: EFO:1000116 xref: EFO:1000117 is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9002762 ! Ovarian Neoplasms [Term] id: DOID:0060114 name: vaginal benign neoplasm def: "A female reproductive organ benign neoplasm that is located_in the vagina. (DO)" [https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 "DO"] synonym: "vaginal benign neoplasms" EXACT [] is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:9006698 ! Vaginal Neoplasms [Term] id: DOID:0060115 name: nervous system benign neoplasm def: "An organ system benign neoplasm that is located_in the central nervous system or located_in the peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Nervous_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:9006557 ! Nervous System Neoplasms created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0060116 name: sensory system cancer def: "A nervous system cancer that is located in the sensory system. (DO)" [http://en.wikipedia.org/wiki/Sensory_system "DO"] is_a: DOID:0050155 ! sensory system disease is_a: DOID:3093 ! nervous system cancer is_a: DOID:9008625 ! Somatosensory Disorders created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0060117 name: peritoneal benign neoplasm def: "A thoracic benign neoplasm that is located_in the serous membrane lining the abdominal cavity or coelom. (DO)" [http://en.wikipedia.org/wiki/Peritoneal "DO"] is_a: DOID:0060097 ! thoracic benign neoplasm [Term] id: DOID:0060118 name: thoracic disease def: "A disease of anatomical entity that is located_in the thoracic cavity. (DO)" [http://en.wikipedia.org/wiki/Thoracic_cavity "DO"] synonym: "thoracic diseases" EXACT [] xref: MESH:D013896 is_a: DOID:1579 ! respiratory system disease is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:0060119 name: pharynx cancer def: "A gastrointestinal system cancer that is located_in the pharynx. (DO)" [http://en.wikipedia.org/wiki/Pharynx "DO"] synonym: "EFO:0005577" EXACT [] synonym: "Pharyngeal Adenoid Cystic Carcinoma" NARROW [] synonym: "pharyngeal cancer" EXACT [] xref: EFO:0005577 xref: EFO:1000472 xref: NCI:C3325 xref: RDO:9002335 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:9002346 ! Pharyngeal Neoplasms created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0060121 name: integumentary system benign neoplasm def: "An organ system benign neoplasm located_in the integumentary system organs. (DO)" [http://en.wikipedia.org/wiki/Integumentary_system "DO"] is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:16 ! integumentary system disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060122 name: integumentary system cancer def: "An organ system cancer that is located_in the skin, hair and nails. (DO)" [http://en.wikipedia.org/wiki/Integumentary_system "DO"] is_a: DOID:0050686 ! organ system cancer is_a: DOID:16 ! integumentary system disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060123 name: connective tissue benign neoplasm def: "A musculoskeletal system benign neoplasm that is located_in connective tissue. (DO)" [http://en.wikipedia.org/wiki/Connective_tissue_neoplasm "DO"] synonym: "mesenchymal tissue neoplasm" EXACT [] synonym: "neoplasm of soft tissue" EXACT [] synonym: "neoplasm of soft tissues" EXACT [] synonym: "soft tissue benign neoplasm" EXACT [] synonym: "tumor of the soft tissue" EXACT [] xref: NCI:C3377 is_a: DOID:0060099 ! musculoskeletal system benign neoplasm is_a: DOID:9003944 ! Connective Tissue Neoplasms created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060125 name: heavy chain disease def: "A hypersensitivity reaction type IV disease that results from a proliferation of cells producing immunoglobulin heavy chains. (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"] synonym: "gamma Chain Disease" EXACT [] synonym: "gamma-Chain Diseases" EXACT [] synonym: "Heavy Chain Diseases" EXACT [] xref: EFO:1001341 xref: ICD10CM:C88.2 xref: ICDO:9762/3 xref: MESH:D006362 xref: NCI:C3082 xref: NCI:C3083 xref: NCI:C3892 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:2916 ! hypersensitivity reaction type IV disease is_a: DOID:9003571 ! Paraproteinemias [Term] id: DOID:0060126 name: alpha chain disease def: "A heavy chain disease that results from an overproduction of alpha antibodies (IgA). (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"] synonym: "alpha-chain diseases" EXACT [] synonym: "alpha heavy chain disease" EXACT [] synonym: "heavy chain disease, IgA type" EXACT [] synonym: "immunoproliferative small intestinal disease" EXACT [] synonym: "IPSID" EXACT [] synonym: "mediterranean lymphoma" EXACT [] synonym: "Seligmann's disease" EXACT [] xref: EFO:1001798 xref: MESH:D007161 is_a: DOID:0060058 ! lymphoma is_a: DOID:0060125 ! heavy chain disease is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:9002245 ! Intestinal Neoplasms [Term] id: DOID:0060127 name: gamma heavy chain disease def: "A heavy chain disease that results from an overproduction of gamma antibody (IgG). (DO)" [http://rarediseases.info.nih.gov/GARD/Condition/10346/Gamma_heavy_chain_disease.aspx "DO"] synonym: "Franklin's disease" EXACT [] synonym: "Franklin disease" EXACT [] synonym: "Franklins disease" EXACT [] xref: GARD:10346 is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:0060128 name: mu chain disease def: "A heavy chain disease that results from an overproduction of mu antibody (IgM). (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"] synonym: "mu-chain diseases" EXACT [] is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:0060129 name: delta chain disease def: "A heavy chain disease that results from an overproduction of delta antibody (IgD). (DO)" [http://en.wikipedia.org/wiki/Heavy_chain_disease "DO"] is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:0060130 name: akinetopsia def: "An agnosia that is a loss of motion perception. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060131 name: alexithymia def: "An agnosia that is a deficiency in understanding, processing, or describing emotions. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060132 name: amusia alt_id: MIM:191200 def: "An agnosia that is a loss of the ability to recognize musical notes, rhythms, and intervals. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "congenital amusia" EXACT [] synonym: "dysmelodia" EXACT [] synonym: "receptive amusia" EXACT [] synonym: "tone deafness" EXACT [] synonym: "tune deafness" EXACT [] xref: MESH:C566019 is_a: DOID:4090 ! agnosia is_a: DOID:9002886 ! Auditory Perceptual Disorders [Term] id: DOID:0060133 name: anosognosia def: "An agnosia that is a loss of the ability to gain feedback about one's own condition or impairments. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "anosognosias" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060134 name: apperceptive agnosia def: "An agnosia that is a loss of the ability to distinguish visual shapes. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060135 name: apraxia def: "An agnosia that is a loss of the ability to map out physical actions in order to repeat them in functional activities. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "apraxia of phonation" EXACT [] synonym: "apraxias" EXACT [] synonym: "articulatory apraxia" EXACT [] synonym: "articulatory apraxias" EXACT [] synonym: "Articulatory Dyspraxia" EXACT [] synonym: "articulatory dyspraxias" EXACT [] synonym: "CAS" EXACT [] synonym: "Developmental Verbal Apraxia" EXACT [] synonym: "developmental verbal apraxias" EXACT [] synonym: "developmental verbal dyspraxia" EXACT [] synonym: "developmental verbal dyspraxias" EXACT [] synonym: "Dressing Apraxia" EXACT [] synonym: "dressing apraxias" EXACT [] synonym: "DVD" EXACT [] synonym: "Dyspraxia" EXACT [] synonym: "Dyspraxias" EXACT [] synonym: "Facial-Oral Apraxia" EXACT [] synonym: "Facial-Oral Apraxias" EXACT [] synonym: "Gestural Apraxia" EXACT [] synonym: "Gestural Apraxias" EXACT [] synonym: "Ideational Apraxia" EXACT [] synonym: "Ideational Apraxias" EXACT [] synonym: "Motor Apraxia" EXACT [] synonym: "Motor Apraxias" EXACT [] synonym: "Oral Apraxia" EXACT [] synonym: "Oral Apraxias" EXACT [] synonym: "Oral Dyspraxia" EXACT [] synonym: "Oral Dyspraxias" EXACT [] synonym: "phonation apraxia" EXACT [] synonym: "phonation apraxias" EXACT [] synonym: "verbal apraxia" EXACT [] synonym: "verbal apraxias" EXACT [] synonym: "verbal dyspraxia" EXACT [] synonym: "verbal dyspraxias" EXACT [] xref: GARD:5838 xref: ICD10CM:R48.2 xref: MESH:D001072 xref: NCI:C180557 is_a: DOID:4090 ! agnosia is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0060136 name: associative agnosia def: "An agnosia that is a loss of the ability to recognize visual scenes or classes of objects but retain the ability to describe them. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060137 name: auditory agnosia def: "An agnosia that is a loss of the ability to distinguishing environmental and non-verbal auditory cues including difficulty distinguishing speech from non-speech sounds even though hearing is usually normal. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "congenital auditory agnosia" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060138 name: autotopagnosia def: "An agnosia that is a loss of the ability to orient parts of the body. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060139 name: color agnosia def: "An agnosia that is a loss of the ability to recognize a color, while being able to perceive or distinguish it. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060140 name: cortical deafness def: "An agnosia that is a loss of the ability to perceive any auditory information but whose hearing is intact. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "central hearing loss" EXACT [] xref: MESH:D006313 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:4090 ! agnosia is_a: DOID:9008117 ! Central Auditory Diseases [Term] id: DOID:0060141 name: finger agnosia def: "An agnosia that is a loss of the ability to distinguish the fingers on the hand. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060142 name: form agnosia def: "An agnosia that is a loss of the ability to perceive a whole object while perceiving only parts of details. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060143 name: integrative agnosia def: "An agnosia that is a loss of the ability to integrate these elements together into comprehensible perceptual wholes while recognizing elements of the whole. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060144 name: mirror agnosia def: "An agnosia that is a loss of the ability to acknowledge objects in the neglected field that are visible when a mirror reflects the object visible in the non-neglected field. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060145 name: pain agnosia def: "An agnosia that is a loss of the ability to perceive and process pain. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "analgesia" EXACT [] xref: EFO:1001484 is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060146 name: phonagnosia def: "An agnosia that is a loss of the ability to recognize familiar voices. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060147 name: semantic agnosia def: "An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060148 name: simultanagnosia def: "An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] xref: GARD:11943 xref: MONDO:0000678 is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060149 name: social emotional agnosia def: "An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "expressive agnosia" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060150 name: astereognosia def: "An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "somatosensory agnosia" EXACT [] synonym: "somatosensory agnosias" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060151 name: tactile agnosia def: "An agnosia that is a loss of the ability to recognize or identify objects by touch alone. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "tactile agnosias" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060152 name: time agnosia def: "An agnosia that is a loss of the ability to comprehend the succession and duration of events. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "time agnosias" EXACT [] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060153 name: topographical agnosia def: "An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "topographical agnosias" EXACT [] is_a: DOID:0060155 ! visual agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060154 name: verbal auditory agnosia def: "An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] is_a: DOID:4090 ! agnosia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:0060155 name: visual agnosia def: "An agnosia that is a loss of the ability to visually recognize objects. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "monomodal visual amnesia" EXACT [] synonym: "primary visual agnosia" EXACT [] synonym: "visual agnosia for objects" EXACT [] synonym: "visual agnosias" EXACT [] synonym: "visual amnesia" EXACT [] xref: MESH:C531604 is_a: DOID:4090 ! agnosia [Term] id: DOID:0060156 name: visual verbal agnosia def: "An agnosia that is a loss of the ability to comprehending the meaning of written words. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "Alexia, Pure" EXACT [] synonym: "Alexia Syndrome Without Agraphia" EXACT [] synonym: "Alexia Without Agraphia" EXACT [] synonym: "alexia without agraphias" EXACT [] synonym: "Pure Alexias" EXACT [] synonym: "Pure Alexia Without Agraphia" EXACT [] synonym: "Pure Word Blindness" EXACT [] synonym: "Pure Word Blindnesses" EXACT [] synonym: "visual verbal agnosias" EXACT [] xref: MESH:D020237 is_a: DOID:0060155 ! visual agnosia is_a: DOID:13417 ! alexia [Term] id: DOID:0060157 name: diffuse alopecia areata def: "An alopecia areata that involves diffuse loss of hair over the whole scalp. (DO)" [http://en.wikipedia.org/wiki/Alopecia_areata "DO"] synonym: "alopecia celsi" EXACT [] synonym: "Cazenave's vitiligo" EXACT [] synonym: "Celsus' Vitiligo" EXACT [] synonym: "diffuse alopecia" EXACT [] synonym: "Jonston's Alopecia" EXACT [] synonym: "marginal alopecia" EXACT [] synonym: "patchy alopecia" EXACT [] xref: MESH:C531609 xref: MONDO:0000687 is_a: DOID:986 ! alopecia areata [Term] id: DOID:0060158 name: acquired metabolic disease def: "A disease of metabolism that has_material_basis_in enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to an endocrine organ disease, organ malfunction, inadequate intake, dietary deficiency, or malabsorption. (DO)" [http://en.wikipedia.org/wiki/Inborn_error_of_metabolism "DO", http://www.ncbi.nlm.nih.gov/mesh/68008659 "DO"] xref: EFO:1000639 is_a: DOID:0014667 ! disease of metabolism created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060159 name: organic acidemia def: "An amino acid metabolic disorder that disrupts normal amino acid metabolism causing a building up of branched-chain amino acids. (DO)" [http://en.wikipedia.org/wiki/Aciduria "DO"] synonym: "organic acid metabolism disorder" EXACT [] synonym: "organic aciduria" EXACT [] xref: GARD:9433 is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060160 name: childhood spinal muscular atrophy def: "A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene. (DO)" [http://en.wikipedia.org/wiki/Survival_motor_neuron_spinal_muscular_atrophy "DO"] synonym: "spinal muscular atrophies of childhood" EXACT [] synonym: "spinal muscular atrophy 1" EXACT [] synonym: "spinal muscular atrophy of childhood" EXACT [] synonym: "survival motor neuron spinal muscular atrophy" EXACT [] xref: MESH:D014897 xref: NCI:C85076 xref: ORDO:70 is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0060161 name: Kennedy's disease alt_id: MESH:C537017 alt_id: MIM:313200 def: "A spinal muscular dystrophy that has_material_basis_in an X-linked recessive expansion of CAG triplet repeats (glutamine) in exon 1 of AR gene encoding the androgen receptor. (DO)" [http://en.wikipedia.org/wiki/Kennedy_disease "DO"] synonym: "KD" EXACT [] synonym: "Kennedy disease" EXACT [] synonym: "Kennedys disease" EXACT [] synonym: "Kennedy spinal and bulbar muscular atrophy" EXACT [] synonym: "Kennedy Syndrome" EXACT [] synonym: "SBMA" EXACT [] synonym: "SMAX1" EXACT [] synonym: "spinal and bulbar muscular atrophy" EXACT [] synonym: "spinal bulbar muscular atrophy" EXACT [] synonym: "spinobulbar muscular atrophy" EXACT [] synonym: "XBSN" EXACT [] synonym: "X-linked bulbo-spinal atrophies" EXACT [] synonym: "X-linked bulbo-spinal atrophy" EXACT [] synonym: "X linked bulbospinal muscular atrophy" EXACT [] synonym: "X-linked bulbospinal neuronopathy, recessive" EXACT [] synonym: "X-linked spinal and bulbar muscular atrophy" EXACT [] synonym: "X-linked spinal and bulbar muscular atrophy 1" EXACT [] xref: GARD:6818 xref: MESH:D055534 xref: NCI:C85233 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0060162 name: dentatorubral-pallidoluysian atrophy alt_id: MIM:125370 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in expansion of CAG triplet repeats (glutamine) encoding a polyglutamine tract in the atrophin-1 protein. (DO)" [http://en.wikipedia.org/wiki/Dentatorubral-pallidoluysian_atrophy "DO"] synonym: "ataxia, chorea, seizures, and dementia" EXACT [] synonym: "ATN1-RELATED DISORDERS" BROAD [] synonym: "congenital ATN1-related disorder" BROAD [] synonym: "DRPLA" EXACT [] synonym: "Haw River syndrome" EXACT [] synonym: "HRS" EXACT [] synonym: "myoclonic epilepsy with choreoathetosis" EXACT [] synonym: "Naito Oyanagi disease" EXACT [] xref: GARD:5643 xref: MESH:C538427 xref: NCI:C122653 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia is_a: DOID:891 ! progressive myoclonus epilepsy created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060163 name: body dysmorphic disorder def: "A somatoform disorder that involves an excessive concern about and preoccupation with a perceived defect in his or her physical features (body image). (DO)" [http://en.wikipedia.org/wiki/Body_dysmorphic_disorder "DO"] synonym: "body dysmorphia" EXACT [] synonym: "body dysmorphic disorders" EXACT [] synonym: "Body Image Disfunction" EXACT [] synonym: "Body Image Disfunctions" EXACT [] synonym: "body image disorder" EXACT [] synonym: "body image disorders" EXACT [] synonym: "dysmorphic features" RELATED [] synonym: "dysmorphic syndrome" EXACT [] synonym: "dysmorphophobia" EXACT [] xref: MESH:D057215 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:0060164 name: pain disorder def: "A somatoform disorder that involves chronic pain in one or more areas, and is thought to be caused by psychological stress. (DO)" [http://en.wikipedia.org/wiki/Pain_disorder "DO"] is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:0060165 name: Kleine-Levin syndrome alt_id: MIM:148840 def: "A recurrent hypersomnia that is characterized by recurring periods of excessive amounts of sleep and altered behavior. (DO)" [http://en.wikipedia.org/wiki/Kleine-Levin_syndrome "DO"] synonym: "familial hibernation (Kleine-Levin) syndrome" EXACT [] synonym: "Familial Kleine Levin Syndrome" EXACT [] synonym: "Kleine Levin Critchley Syndrome" EXACT [] synonym: "Kleine Levin Hibernation Syndrome" EXACT [] synonym: "Periodic Hypersomnia" EXACT [] synonym: "periodic hypersomnias" EXACT [] xref: EFO:1001354 xref: MESH:D017593 is_a: DOID:225 ! syndrome is_a: DOID:8619 ! recurrent hypersomnia [Term] id: DOID:0060166 name: bipolar ll disorder alt_id: DOID:0080221 alt_id: MIM:309200 def: "A bipolar disorder that is characterized by at least one hypomanic episode and at least one major depressive episode; with this disorder, depressive episodes are more frequent and more intense than manic episodes. (DO)" [http://en.wikipedia.org/wiki/Bipolar_II "DO"] synonym: "MAFD2" EXACT [] synonym: "major affective disorder 2" EXACT [] synonym: "manic-depressive illness" EXACT [] synonym: "manic-depressive psychosis, X-linked" EXACT [] synonym: "MDI" EXACT [] synonym: "MDX" EXACT [] xref: EFO:0009964 xref: MESH:C564108 is_a: DOID:3312 ! bipolar disorder created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060167 name: seasonal affective disorder def: "A mental depression that involves presentation of depressive symptoms only during a specific season of the year. (DO)" [http://en.wikipedia.org/wiki/Seasonal_affective_disorder "DO"] synonym: "seasonal affective disorders" EXACT [] synonym: "seasonal mood disorder" EXACT [] synonym: "seasonal mood disorders" EXACT [] synonym: "winter depression" EXACT [] xref: MESH:D016574 is_a: DOID:1596 ! depressive disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0060168 name: histidinemia alt_id: MIM:235800 def: "A histidine metabolism disease characterized by a deficiency of the enzyme histidase. (DO)" [http://en.wikipedia.org/wiki/Histidinemia "DO", https://ghr.nlm.nih.gov/condition/histidinemia "DO"] synonym: "deficiency in histidase" EXACT [] synonym: "HAL Deficiency" EXACT [] synonym: "HIS DEFICIENCY" EXACT [] synonym: "Histidase deficiency" EXACT [] synonym: "Histidine ammonia-lyase deficiency" EXACT [] synonym: "histidinuria" EXACT [] synonym: "hyperhistidinemia" EXACT [] synonym: "increased histidine" EXACT [] xref: GARD:6661 xref: MESH:C538320 is_a: DOID:9265 ! histidine metabolism disease [Term] id: DOID:0060169 name: benign familial infantile epilepsy def: "An infancy electroclinical syndrome that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12503648 "DO"] synonym: "benign familial infantile convulsion" EXACT [] synonym: "benign familial infantile convulsions" EXACT [] synonym: "benign familial infantile convulsions syndrome" EXACT [] synonym: "benign familial infantile seizures" EXACT [] synonym: "BFIC" EXACT [] synonym: "BFIE" EXACT [] xref: GARD:1518 xref: GARD:857 xref: MIM:PS601764 xref: NCI:C183308 xref: ORDO:306 is_a: DOID:0050703 ! infancy electroclinical syndrome created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0060170 name: generalized epilepsy with febrile seizures plus def: "An idiopathic generalized epilepsy that is characterized by febrile seizures often with accessory afebrile generalized tonic-clonic seizures with childhood onset. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22011963 "DO"] synonym: "GEFS+" EXACT [] xref: ICD10CM:G40.3 xref: MESH:C565808 xref: MIM:PS604233 xref: ORDO:36387 is_a: DOID:1827 ! idiopathic generalized epilepsy is_a: DOID:9007956 ! Febrile Seizures [Term] id: DOID:0060172 name: juvenile absence epilepsy def: "An adolescence-adult electroclinical syndrome statring between the age of ten to 17 years characterized by the occurrence of typical absence seizures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27986418 "DO"] synonym: "JAE" EXACT [] synonym: "juvenile absence epilepsies" EXACT [] xref: MIM:PS607631 xref: NCI:C129868 is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060173 name: Timothy syndrome alt_id: MIM:601005 def: "A syndrome characterized by cardiac, hand/foot, facial, and neurodevelopmental features that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. The two forms are type 1 (classic) and type 2, a rare form that has_material_basis_in mutations in a transcript variant of the CACNA1C gene. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1403/ "DO", https://ghr.nlm.nih.gov/condition/timothy-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15863612 "DO"] synonym: "CACNA1C-related disorder" BROAD [] synonym: "long QT syndrome with syndactyly" EXACT [] synonym: "TIMOTHY SYNDROME TYPE 1" NARROW [] synonym: "TS" EXACT [] xref: GARD:9294 xref: MESH:C536962 xref: ORDO:65283 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:12849 ! autistic disorder is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0060174 name: GABA aminotransferase deficiency alt_id: MIM:613163 def: "A gamma-amino butyric acid metabolism disorder that is characterized by a defect in the gene coding for gamma-aminobutyrate transaminase, which is responsible for catabolism of gamma-aminobutyric acid (GABA), an important, mostly inhibitory neurotransmitter in the central nervous system, into succinic semialdehyde. (DO)" [https://ghr.nlm.nih.gov/condition/gaba-transaminase-deficiency#synonyms "DO"] synonym: "4 alpha aminobutyrate transaminase deficiency" EXACT [] synonym: "GABA-transaminase deficiency" EXACT [] synonym: "Gamma aminobutyrate transaminase deficiency" EXACT [] synonym: "gamma aminobutyric acid transaminase deficiency" EXACT [] synonym: "gamma-amino butyric acid transaminase deficiency" EXACT [] xref: MESH:C535407 is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060175 name: succinic semialdehyde dehydrogenase deficiency alt_id: MIM:271980 def: "A gamma-amino butyric acid metabolism disorder that is characterized by a deficiency of succinic semialdehyde dehydrogenase resulting in elevated levels of gamma-hydroxybutyric acid. (DO)" [http://en.wikipedia.org/wiki/Succinic_semialdehyde_dehydrogenase_deficiency#Mechanism "DO"] synonym: "4-hydroxybutyric aciduria" EXACT [] synonym: "4-hydroxybutyricaciduria" EXACT [] synonym: "GABA metabolic defect" EXACT [] synonym: "gamma-hydroxybutyric acidemia" EXACT [] synonym: "gamma-hydroxybutyric aciduria" EXACT [] synonym: "SSADH" EXACT [] synonym: "SSADHD" EXACT [] synonym: "SSADH deficiency" EXACT [] synonym: "succinate-semialdehyde dehydrogenase deficiency" EXACT [] xref: MESH:C535803 is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060176 name: gamma-amino butyric acid metabolism disorder def: "An amino acid metabolic disorder characterized by impairment of the GABA catabolic pathway. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12891648 "DO"] xref: RDO:9003115 is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060177 name: homocarnosinosis alt_id: MIM:212200 alt_id: MIM:236130 def: "A gamma-amino butyric acid metabolism disorder that is characterized by an excess of homocarnosine in the brain and has_material_basis_in a deficiency of serum carnosinase in its ability to hydrolyze homocarnosine. (DO)" [http://en.wikipedia.org/wiki/Carnosinemia "DO", http://www.pndassoc.org/atf/cf/%7BC3CD1AA0-3DB0-43D2-ADA5-F1509D3000DE%7D/Pearl.pdf "DO"] synonym: "carnosinase deficiency" EXACT [] synonym: "carnosinemia" EXACT [] synonym: "homocarnosinase deficiency" EXACT [] xref: GARD:2730 xref: MESH:C535328 xref: NCI:C125661 is_a: DOID:0060176 ! gamma-amino butyric acid metabolism disorder is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:0060178 name: familial hemiplegic migraine def: "A migraine with aura that is characterized by temporary numbness or weakness, often affecting one side of the body (hemiparesis). Additional features of an aura can include difficulty with speech, confusion, and drowsiness. (DO)" [http://ghr.nlm.nih.gov/condition/familial-hemiplegic-migraine "DO"] synonym: "familial hemiplegic migraines" EXACT [] xref: GARD:10975 xref: ICD10CM:G43.8 xref: ICD9CM:346.8 xref: MIM:PS141500 xref: ORDO:569 is_a: DOID:10024 ! migraine with aura created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060179 name: Renpenning syndrome alt_id: MIM:309500 def: "An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males. (DO)" [http://en.wikipedia.org/wiki/Renpenning%27s_syndrome "DO"] synonym: "Golabi-Ito-Hall syndrome" EXACT [] synonym: "Hamel Cerebropalatocardiac Syndrome" EXACT [] synonym: "MRX55" EXACT [] synonym: "MRXS3" EXACT [] synonym: "MRXS8" EXACT [] synonym: "Porteous Syndrome" EXACT [] synonym: "Renpenning syndrome 1" EXACT [] synonym: "RENS1" EXACT [] synonym: "SHS" EXACT [] synonym: "Sutherland-Haan syndrome" EXACT [] synonym: "Sutherland-Haan X-linked mental retardation syndrome" EXACT [] synonym: "syndromic X-linked mental retardation 8" EXACT [] synonym: "X-linked intellectual deficit due to PQBP1 mutations" EXACT [] synonym: "X-linked intellectual deficit, Renpenning type" EXACT [] synonym: "X-linked intellectual disability due to PQBP1 mutations" EXACT [] synonym: "X-linked intellectual disability, Renpenning type" EXACT [] synonym: "X-linked mental retardation, 55" EXACT [] synonym: "X-linked mental retardation Renpenning type" EXACT [] synonym: "X-linked mental retardation syndromic 3" EXACT [] synonym: "X-linked mental retardation with spastic diplegia" EXACT [] xref: ICD10CM:Q87.5 xref: MESH:C537761 xref: NCI:C165533 xref: ORDO:3242 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1969 ! cerebral palsy [Term] id: DOID:0060180 name: colitis def: "An inflammatory bowel disease that involves inflammation located_in colon. (DO)" [http://en.wikipedia.org/wiki/Colitis "DO"] synonym: "colitides" EXACT [] xref: EFO:0003872 xref: MESH:D003092 xref: NCI:C26723 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:5353 ! colonic disease [Term] id: DOID:0060181 name: ischemic colitis def: "A colitis caused_by inadequate blood supply to the colon. (DO)" [http://en.wikipedia.org/wiki/Ischemic_colitis "DO", http://www.mayoclinic.org/diseases-conditions/ischemic-colitis/basics/definition/con-20026677 "DO"] xref: ICD10CM:K55.9 xref: MESH:D017091 is_a: DOID:0060180 ! colitis is_a: DOID:178 ! vascular disease [Term] id: DOID:0060182 name: microscopic colitis def: "A colitis that can only be diagnosed_by the examination of colon tissue under a microscope. (DO)" [http://en.wikipedia.org/wiki/Microscopic_colitis "DO", http://www.mayoclinic.org/diseases-conditions/microscopic-colitis/basics/definition/con-20026232 "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis "DO"] xref: EFO:1001295 xref: ICD10CM:K52.83 xref: MESH:D046728 xref: NCI:C38504 xref: ORDO:58220 is_a: DOID:0060180 ! colitis [Term] id: DOID:0060183 name: collagenous colitis def: "A colitis characterized by a distinctive thickening of the subepithelial collagen table. (DO)" [http://en.wikipedia.org/wiki/Collagenous_colitis "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts "DO"] xref: EFO:1001293 xref: GARD:6135 xref: ICD10CM:K52.831 xref: MESH:D046729 xref: NCI:C27021 is_a: DOID:0060182 ! microscopic colitis [Term] id: DOID:0060184 name: lymphocytic colitis def: "A colitis characterized by an accumulation of lymphocytes in the colonic epithelium and connective tissue (lamina propria). (DO)" [http://en.wikipedia.org/wiki/Lymphocytic_colitis "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/microscopic-colitis/definition-facts "DO"] xref: EFO:1001294 xref: GARD:6939 xref: ICD10CM:K52.832 xref: MESH:D046730 xref: MONDO:0000704 xref: NCI:C27147 xref: ORDO:65279 is_a: DOID:0060182 ! microscopic colitis [Term] id: DOID:0060185 name: Clostridium difficile colitis def: "A colitis characterized by an overgrowth of Clostridium difficile bacteria. (DO)" [http://en.wikipedia.org/wiki/Clostridium_difficile_colitis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000259.htm "DO"] synonym: "antibiotic associated colitis" EXACT [] synonym: "clostridium enterocolitis" EXACT [] synonym: "pseudomembranous colitis" EXACT [] synonym: "pseudomembranous enteritis" EXACT [] synonym: "pseudomembranous enterocolitis" EXACT [] xref: EFO:1001314 xref: ICD10CM:A04.7 xref: MESH:D004761 xref: NCI:C128347 is_a: DOID:0060180 ! colitis is_a: DOID:9002805 ! Enterocolitis is_a: DOID:9006732 ! Clostridium Infections [Term] id: DOID:0060186 name: chemical colitis def: "A colitis caused_by introduction of various chemicals. (DO)" [http://en.wikipedia.org/wiki/Chemical_colitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/18209577 "DO"] xref: ICD10CM:K52 xref: ICD9CM:558 is_a: DOID:0060180 ! colitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060187 name: diversion colitis def: "A colitis caused_by diversion of the fecal stream due to complication of ileostomy or colostomy. (DO)" [http://en.wikipedia.org/wiki/Diversion_colitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/1916483 "DO"] is_a: DOID:0060180 ! colitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060188 name: jejunoileitis def: "An inflammatory bowel disease that is characterized by patchy areas of inflammation located_in jejunum, has_symptom abdominal pain, has_symptom diarrhea, has_symptom cramps and has_symptom formation of fistulas. (DO)" [http://en.wikipedia.org/wiki/Crohn%27s_disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/15973125 "DO"] xref: ICD10CM:K50.0 is_a: DOID:8778 ! Crohn's disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060189 name: ileitis def: "An inflammatory bowel disease characterized by inflammation located_in ileum, has_symptom diarrhea, has_symptom abdominal pain, often in the right lower quadrant, has_symptom weight loss. (DO)" [http://en.wikipedia.org/wiki/Ileitis "DO"] synonym: "Crohn's ileitis" EXACT [] xref: MESH:D007079 xref: NCI:C84782 is_a: DOID:8778 ! Crohn's disease is_a: DOID:9001261 ! Ileal Diseases is_a: DOID:9007156 ! Enteritis [Term] id: DOID:0060190 name: ileocolitis def: "An inflammatory bowel disease characterized by inflammation located_in colon and located_in ileum, has_symptom diarrhea, has_symptom weight loss, has_symptom abdominal pain in middle or lower right part. The most common type of Crohn's disease. (DO)" [https://my.clevelandclinic.org/health/diseases/9357-crohns-disease "DO"] xref: EFO:0005624 is_a: DOID:8778 ! Crohn's disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060191 name: gastroduodenal Crohn's disease def: "An inflammatory bowel disease characterized by inflammation located_in stomach and located_in duodenum, has_symptom nausea, has_symptom vomiting, has_symptom weight loss and has_symptom loss of appetite. (DO)" [http://en.wikipedia.org/wiki/Crohn%27s_disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/12769447 "DO"] synonym: "upper GI Crohn's disease" EXACT [] is_a: DOID:8778 ! Crohn's disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060192 name: Crohn's colitis def: "An inflammatory bowel disease characterized by inflammation located_in colon only, has_symptom diarrhea, has_symptom rectal bleeding, has_symptom skin lesions and has_symptom formation of ulcers, fistulas and abscesses around the anus. (DO)" [http://en.wikipedia.org/wiki/Crohn%27s_disease "DO"] xref: EFO:0005622 xref: ICD10CM:K50.1 xref: ICD9CM:555.1 xref: NCI:C35211 xref: NCI:C37262 is_a: DOID:8778 ! Crohn's disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060193 name: amyotrophic lateral sclerosis type 1 alt_id: MIM:105400 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SOD1 gene on chromosome 21. The most common type of familial ALS. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO"] synonym: "ALS1" EXACT [] synonym: "amyotrophic lateral sclerosis 1" EXACT [] synonym: "amyotrophic lateral sclerosis 1, autosomal dominant" NARROW [] synonym: "amyotrophic lateral sclerosis 1, autosomal recessive" NARROW [] synonym: "amyotrophic lateral sclerosis 1, familial" EXACT [] synonym: "amyotrophic lateral sclerosis, autosomal dominant" NARROW [] synonym: "amyotrophic lateral sclerosis, dominant" NARROW [] synonym: "amyotrophic lateral sclerosis, familial" EXACT [] synonym: "amyotrophic lateral sclerosis, sporadic" NARROW [] synonym: "FALS" EXACT [] synonym: "NEFH-RELATED CONDITION" RELATED [] xref: MESH:C531617 xref: NCI:C168749 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060194 name: juvenile amyotrophic lateral sclerosis 2 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the alsin gene on chromosome 2. (DO)" [url:http\://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", url:http\://omim.org/entry/205100 "DO"] synonym: "ALS2" EXACT [] synonym: "ALS2-related spectrum disorders" RELATED [] synonym: "ALSJ" BROAD [] synonym: "amyotrophic lateral sclerosis 2" EXACT [] synonym: "amyotrophic lateral sclerosis type 2" EXACT [] synonym: "juvenile ALS" BROAD [] xref: GARD:9470 xref: MESH:C565957 xref: MIM:205100 xref: MONDO:0008780 is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis [Term] id: DOID:0060195 name: amyotrophic lateral sclerosis type 3 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in loci on chromosome 18. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/606640 "DO"] synonym: "ALS3" EXACT [] synonym: "amyotrophic lateral sclerosis 3" EXACT [] xref: GARD:10501 xref: MESH:C564688 xref: MIM:606640 xref: MONDO:0011691 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060196 name: amyotrophic lateral sclerosis type 4 def: "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/602433 "DO"] synonym: "ALS 4" EXACT [] synonym: "ALS4" EXACT [] synonym: "amyotrophic lateral sclerosis 4" EXACT [] synonym: "dHMN with upper motor neuron signs" EXACT [] synonym: "distal hereditary motor neuronopathy with pyramidal features" EXACT [] synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [] synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [] synonym: "juvenile amyotrophic lateral sclerosis 4" EXACT [] synonym: "SETX-RELATED CONDITION" BROAD [] synonym: "SETX-related disorder" BROAD [] synonym: "SETX-related disorders" BROAD [] xref: GARD:10502 xref: ICD10CM:G12.2 xref: MESH:C566550 xref: MIM:602433 xref: MONDO:0011223 xref: ORDO:357043 is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis [Term] id: DOID:0060197 name: amyotrophic lateral sclerosis type 5 alt_id: MIM:602099 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/602099 "DO"] synonym: "ALS5" EXACT [] synonym: "amyotrophic lateral sclerosis 5" EXACT [] synonym: "juvenile amyotrophic lateral sclerosis 5" EXACT [] xref: GARD:10503 xref: MESH:C566576 is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis [Term] id: DOID:0060198 name: amyotrophic lateral sclerosis type 6 alt_id: MESH:C567699 alt_id: MIM:608030 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FUS gene on chromosome 16. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/608030 "DO"] synonym: "ALS6" EXACT [] synonym: "amyotrophic lateral sclerosis 6" EXACT [] synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [] synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [] synonym: "FUS-RELATED CONDITION" BROAD [] xref: GARD:9874 xref: MESH:C538251 xref: NCI:C168750 is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0060199 name: amyotrophic lateral sclerosis type 7 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in SOD1 gene on chromosome 20. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/608031 "DO"] synonym: "ALS7" EXACT [] synonym: "amyotrophic lateral sclerosis 7" EXACT [] xref: GARD:10500 xref: MESH:C564300 xref: MIM:608031 xref: MONDO:0011952 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060200 name: amyotrophic lateral sclerosis type 9 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ANG gene on chromosome 14. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/611895 "DO"] synonym: "ALS9" EXACT [] synonym: "amyotrophic lateral sclerosis 9" EXACT [] synonym: "ANG-related condition" BROAD [] xref: GARD:10498 xref: MESH:C567499 xref: MIM:611895 xref: MONDO:0012753 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060201 name: amyotrophic lateral sclerosis type 10 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TARDBP gene on chromosome 1. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/612069 "DO"] synonym: "ALS10" EXACT [] synonym: "amyotrophic lateral sclerosis 10" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA" EXACT [] synonym: "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, TARDBP-RELATED" RELATED [] synonym: "FRONTOTEMPORAL LOBAR DEGENERATION WITH TDP43 INCLUSIONS, TARDBP-RELATED" RELATED [] synonym: "FTLD-TDP, TARDBP-related" RELATED [] synonym: "TARDBP-related condition" BROAD [] synonym: "TARDBP-related frontotemporal lobar degeneration with TDP43 inclusions" RELATED [] xref: GARD:10497 xref: MESH:C567429 xref: MIM:612069 xref: MONDO:0012790 xref: NCI:C168752 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060202 name: amyotrophic lateral sclerosis type 11 alt_id: MIM:612577 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the FIG4 gene on chromosome 6. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/612577 "DO"] synonym: "ALS11" EXACT [] synonym: "amyotrophic lateral sclerosis 11" EXACT [] xref: GARD:10496 xref: MESH:C567244 xref: NCI:C168753 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060203 name: amyotrophic lateral sclerosis type 12 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the OPTN gene on chromosome 10. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/613435 "DO"] synonym: "ALS12" EXACT [] synonym: "amyotrophic lateral sclerosis 12" EXACT [] synonym: "amyotrophic lateral sclerosis 12 with or without frontotemporal dementia" EXACT [] xref: MIM:613435 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060204 name: amyotrophic lateral sclerosis type 13 def: "An amyotrophic lateral sclerosis where a mutation that has_material_basis_in the ATXN2 gene on chromosome 12 contributes to suscepitbility. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/183090 "DO"] synonym: "ALS13" EXACT [OMIM:183090] synonym: "amyotrophic lateral sclerosis 13" EXACT [OMIM:183090] xref: RDO:9004682 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0060205 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 6 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/613954 "DO"] synonym: "ALS14" EXACT [] synonym: "amyotrophic lateral sclerosis 14" EXACT [] synonym: "amyotrophic lateral sclerosis 14, with or without frontotemporal dementia" EXACT [] synonym: "amyotrophic lateral sclerosis 14 without frontotemporal dementia" EXACT [] synonym: "amyotrophic lateral sclerosis type 14" EXACT [] synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [] synonym: "FTDALS6" EXACT [] xref: MIM:613954 xref: NCI:C168754 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0060206 name: amyotrophic lateral sclerosis type 15 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the UBQLN2 gene on chromosome X. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/300857 "DO"] synonym: "ALS15" EXACT [] synonym: "amyotrophic lateral sclerosis 15" EXACT [] synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [] xref: MIM:300857 is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0060207 name: amyotrophic lateral sclerosis type 16 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SIGMAR1 gene (SETX) on chromosome 9. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/614373 "DO"] synonym: "ALS16" EXACT [] synonym: "amyotrophic lateral sclerosis 16" EXACT [] synonym: "amyotrophic lateral sclerosis 16, juvenile" EXACT [] xref: MIM:614373 xref: MONDO:0013715 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060209 name: amyotrophic lateral sclerosis type 18 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the PFN1 gene on chromosome 17. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/614808 "DO"] synonym: "ALS18" EXACT [] synonym: "amyotrophic lateral sclerosis 18" EXACT [] synonym: "PFN1-RELATED CONDITION" EXACT [] xref: MIM:614808 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060210 name: amyotrophic lateral sclerosis type 19 alt_id: RDO:9000975 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the ERBB4 gene on chromosome 2. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/615515 "DO"] synonym: "ALS19" EXACT [] synonym: "amyotrophic lateral sclerosis 19" EXACT [] synonym: "ERBB4-RELATED CONDITION" EXACT [] xref: MIM:615515 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060211 name: amyotrophic lateral sclerosis type 20 alt_id: RDO:9000807 def: "An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the HNRNPA1 gene on chromosome 12. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://omim.org/entry/615426 "DO"] synonym: "ALS20" EXACT [] synonym: "amyotrophic lateral sclerosis 20" EXACT [] xref: MIM:615426 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0060212 name: amyotrophic lateral sclerosis type 21 alt_id: MIM:606070 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the MATR3 gene on chromosome 5. (DO)" [http://omim.org/entry/606070 "DO"] synonym: "ALS21" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS 21" EXACT [] synonym: "amyotropic lateral sclerosis 21" EXACT [] synonym: "distal myopathy 2" EXACT [] synonym: "distal myopathy with vocal cord and pharyngeal signs" EXACT [] synonym: "Distal Myopathy with Vocal Cord Weakness" EXACT [] synonym: "Matrin 3 Distal Myopathy" EXACT [] synonym: "Mpd2" EXACT [] synonym: "Myopathia Distalis Type 2" EXACT [] synonym: "VCPDM" EXACT [] synonym: "vocal cord and pharyngeal dysfunction with distal myopathy" EXACT [] synonym: "vocal cord and pharyngeal weakness with distal myopathy" EXACT [] xref: MESH:C565262 xref: NCI:C168755 is_a: DOID:11720 ! distal myopathy is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:786 ! laryngeal disease is_a: DOID:9004130 ! Pharyngeal Diseases [Term] id: DOID:0060213 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 1 alt_id: MIM:105550 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)" [http://omim.org/entry/105550 "DO"] synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [] synonym: "FTDALS1" EXACT [] xref: MESH:C566288 xref: NCI:C168756 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0060214 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 2 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the CHCHD10 gene on chromosome 22. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. (DO)" [http://omim.org/entry/615911 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24934289 "DO"] synonym: "FTDALS2" EXACT [] xref: MIM:615911 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0060215 name: Balo concentric sclerosis def: "A multiple sclerosis that is characterized by concentric layers of demyelinated tissues, tumor-like lesions larger than two centimeters and symptoms similar to those of a brain tumor. (DO)" [http://en.wikipedia.org/wiki/Balo_concentric_sclerosis "DO", https://pubmed.ncbi.nlm.nih.gov/32140322/ "DO", https://www.cedars-sinai.edu/Patients/Health-Conditions/Tumefactive-Multiple-Sclerosis.aspx "DO", https://www.ncbi.nlm.nih.gov/articles/PMC3110404/ "DO"] synonym: "Balo's concentric sclerosis" EXACT [] synonym: "Balo disease" EXACT [] synonym: "Tumefactive multiple sclerosis" EXACT [] xref: GARD:5885 xref: ICD10CM:G37.0 xref: ICD9CM:341.1 xref: NCI:C84670 is_a: DOID:2377 ! multiple sclerosis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060216 name: Cogan syndrome def: "An eye disease characterized by nonsyphilitic interstitial keratitis located_in cornea, has_symptom fever, has_symptom fatigue. (DO)" [http://en.wikipedia.org/wiki/Cogan_syndrome "DO"] synonym: "Cogan's Syndrome" EXACT [] synonym: "Cogans Syndrome" EXACT [] synonym: "diffuse interstitual keratitis" RELATED [] xref: GARD:1421 xref: ICD10CM:H16.32 xref: MESH:D055952 xref: ORDO:1467 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:225 ! syndrome is_a: DOID:5614 ! eye disease is_a: DOID:865 ! vasculitis [Term] id: DOID:0060217 name: Cogan-Reese syndrome def: "An eye disease characterized by variable iris atrophy, pigmented and pedunculated nodules located_in iris and attachment of the iris to the cornea (peripheral anterior synechiae) and characterized_by glaucoma. (DO)" [http://en.wikipedia.org/wiki/Iridocorneal_endothelial_syndrome "DO", http://rarediseases.info.nih.gov/gard/6125/cogan-reese-syndrome/resources/1 "DO"] xref: GARD:6125 xref: NCI:C84644 xref: ORDO:98980 xref: RDO:9003134 is_a: DOID:9003072 ! Iridocorneal Endothelial Syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060218 name: CREST syndrome def: "A syndrome characterized by calcinosis, Raynaud's phenomeno, esophageal dysmotility, sclerodactyly and telangiectasia. (DO)" [http://en.wikipedia.org/wiki/CREST_syndrome "DO"] synonym: "Calcinosis, Raynaud's phenomenon, Esophageal dismobility, Sclerodactyly, Telangiectasia Syndrome" EXACT [] synonym: "Calcinosis Raynaud Phenomenon Sclerodactyly Telangiectasia" EXACT [] synonym: "CREST syndromes" EXACT [] synonym: "CRST Syndrome" EXACT [] synonym: "CRST syndromes" EXACT [] xref: GARD:12430 xref: ICD10CM:M34.1 xref: MESH:D017675 xref: NCI:C70646 is_a: DOID:10300 ! Raynaud disease is_a: DOID:1272 ! telangiectasis is_a: DOID:1577 ! limited scleroderma is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:9192 ! dyskinesia of esophagus [Term] id: DOID:0060219 name: lymph node adenoid cystic carcinoma def: "A lymph node carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures of the lymph nodes. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5193158/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6021008/ "DO"] synonym: "lymph node adenoid cystic cancer" EXACT [] is_a: DOID:0080202 ! adenoid cystic carcinoma is_a: DOID:0080618 ! lymph node carcinoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060220 name: physical urticaria def: "An urticaria induced by external physical influences. (DO)" [http://en.wikipedia.org/wiki/Physical_urticaria "DO", http://www.dermnetnz.org/reactions/urticaria.html "DO"] synonym: "acquired cold urticaria" NARROW [] synonym: "cold urticaria" NARROW [] xref: EFO:1000754 xref: EFO:1001871 xref: EFO:1001881 xref: RDO:9003995 is_a: DOID:1555 ! urticaria created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060221 name: Maffucci syndrome alt_id: RDO:9003248 def: "A syndrome characterized by the presence of multiple enchondromas (benign growths of cartilage) associated with multiple hemangiomas. (DO)" [http://en.wikipedia.org/wiki/Maffucci_syndrome "DO", http://ghr.nlm.nih.gov/condition/maffucci-syndrome "DO"] synonym: "MULTIPLE ENCHONDROMATOSIS, MAFFUCCI TYPE" EXACT [] xref: GARD:6958 xref: MIM:614569 xref: ORDO:163634 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060222 name: Scheie syndrome def: "A mucopolysaccharidosis characterized by corneal clouding, facial dysmorphism and normal lifespan. (DO)" [http://en.wikipedia.org/wiki/Scheie_syndrome "DO"] synonym: "MPS1-S" EXACT [] synonym: "MPS5" EXACT [] synonym: "MPS V" EXACT [] synonym: "mucopolysaccharidosis 5" EXACT [] synonym: "mucopolysaccharidosis I S" EXACT [] synonym: "mucopolysaccharidosis Is" EXACT [] synonym: "mucopolysaccharidosis type 1S" EXACT [] synonym: "mucopolysaccharidosis type IS" EXACT [] synonym: "mucopolysaccharidosis type V" EXACT [] synonym: "Scheie's syndrome" EXACT [] xref: GARD:12561 xref: ICD10CM:E76.0 xref: MIM:607016 xref: NCI:C61265 xref: ORDO:93474 is_a: DOID:12802 ! mucopolysaccharidosis I is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060223 name: agraphia def: "An acquired writing disorder causing a loss in the ability to communicate through writing, either due to some motor dysfunction or the inability to spell. (DO)" [http://en.wikipedia.org/wiki/Agraphia "DO", https://www.ncbi.nlm.nih.gov/pubmed/21507544 "DO"] synonym: "Acquired Agraphia" EXACT [] synonym: "acquired agraphias" EXACT [] synonym: "Acquired Dysgraphia" EXACT [] synonym: "acquired dysgraphias" EXACT [] synonym: "Agraphias" EXACT [] synonym: "Constructional Agraphia" EXACT [] synonym: "constructional agraphias" EXACT [] synonym: "Developmental Agraphia" EXACT [] synonym: "Developmental Agraphias" EXACT [] synonym: "Developmental Dysgraphia" EXACT [] synonym: "developmental dysgraphias" EXACT [] synonym: "pure agraphia" EXACT [] synonym: "pure agraphias" EXACT [] xref: MESH:D000381 is_a: DOID:0060047 ! writing disorder is_a: DOID:93 ! language disorder [Term] id: DOID:0060224 name: atrial fibrillation def: "A heart conduction disease that is characterized by uncoordinated electrical activity in the heart's upper chambers (the atria), which causes the heartbeat to become fast and irregular and has symptoms palpitations, weakness, fatigue, lightheadedness, dizziness, confusion, shortness of breath and chest pain. (DO)" [http://en.wikipedia.org/wiki/Atrial_fibrillation "DO", http://www.mayoclinic.org/diseases-conditions/atrial-fibrillation/basics/definition/con-20027014 "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/af "DO"] synonym: "A-fib" EXACT [] synonym: "AFib" EXACT [] synonym: "atrial fibrillation, association with" RELATED [] synonym: "atrial fibrillations" EXACT [] synonym: "ATRIAL FIBRILLATION, SOMATIC" NARROW [] synonym: "auricular fibrillation" EXACT [] synonym: "auricular fibrillations" EXACT [] synonym: "persistent atrial fibrillation" EXACT [] synonym: "persistent atrial fibrillations" EXACT [] xref: EFO:0000275 xref: ICD9CM:427.31 xref: MESH:D001281 xref: NCI:C50466 is_a: DOID:10273 ! heart conduction disease is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0060225 name: 3MC syndrome def: "A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16096999 "DO"] synonym: "craniofacial-ulnar-renal syndrome" EXACT [] synonym: "Malpuech-Michels-Mingarelli-Carnevale syndrome" EXACT [] xref: GARD:1118 xref: MIM:PS257920 xref: ORDO:293843 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: rgd creation_date: 2017-07-24T00:00:00Z [Term] id: DOID:0060226 name: acrofrontofacionasal dysostosis alt_id: MIM:201180 alt_id: RDO:0004129 def: "A dysostosis characterized by intellectual disability, short stature, hypertelorism, broad notched nasal tip, cleft lip palate, postaxial camptobrachypolysyndactyly, fibular hypoplasia and anomalies of foot structure. (DO)" [http://en.wikipedia.org/wiki/Acrofrontofacionasal_dysostosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/2986457 "DO"] synonym: "acro fronto facio nasal dysostosis" EXACT [] synonym: "acrofrontofacionasal dysostosis 1" EXACT [] synonym: "Acrofrontofacionasal Dysostosis Syndrome" EXACT [] synonym: "AFFN dysostosis" EXACT [] synonym: "cleft lip-palate with frontonasal dysostosis and postaxial polysyndactyly" EXACT [] synonym: "polysyndactyly, postaxial, frontonasal dysostosis, and cleft lip-palate" EXACT [] synonym: "Richieri-Costa-Colletto syndrome" EXACT [] xref: MESH:C538186 xref: ORDO:1784 is_a: DOID:1934 ! dysostosis is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060227 name: Adams-Oliver syndrome def: "A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. (DO)" [http://en.wikipedia.org/wiki/Adams%E2%80%93Oliver_syndrome "DO", http://ghr.nlm.nih.gov/condition/adams-oliver-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18000904 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/584/viewAbstract "DO"] synonym: "absence defect of limbs, scalp, and skull" EXACT [] synonym: "AOS" EXACT [] synonym: "aplasia cutis congenita, congenital heart defect, and frontonasal cysts" EXACT [] synonym: "aplasia cutis congenita with terminal transverse limb defects" EXACT [] synonym: "aplasia cutis of the scalp" EXACT [] synonym: "congenital defect of skull and scalp" EXACT [] synonym: "congenital scalp defect" EXACT [] synonym: "congenital scalp defects with distal limb reduction anomalies" EXACT [] synonym: "familial aplasia cutis congenita of the scalp" EXACT [] synonym: "scalp and head syndrome" EXACT [] synonym: "scalp defects with ectrodactyly" EXACT [] xref: GARD:5739 xref: MESH:C538225 xref: MIM:PS100300 xref: ORDO:974 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:3136 ! scalp dermatosis is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0060228 name: intracranial berry aneurysm def: "An intracranial aneurysm with a characteristic rounded shape; the most common form of cerebral aneurysm. (DO)" [https://en.wikipedia.org/wiki/Intracranial_aneurysm#Saccular_aneurysms "DO", https://radiopaedia.org/articles/saccular-cerebral-aneurysm "DO"] synonym: "familial aneurysmal subarachnoid hemorrhage" EXACT [] synonym: "familial berry aneurysm" EXACT [] synonym: "familial intracranial saccular aneurysm" EXACT [] synonym: "saccular cerebral aneurysm" EXACT [] xref: MIM:PS105800 xref: ORDO:231160 is_a: DOID:10941 ! intracranial aneurysm created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060229 name: Baraitser-Winter syndrome def: "A syndrome characterized by distinctive facial features including hypertelorism, large eyelid openings, ptosis, high-arched eyebrows, a broad nasal bridge and tip of the nose, a long space between the nose and the upper lip, full cheeks and a pointed chin; structural abnormalities of the brain might also be present. (DO)" [http://ghr.nlm.nih.gov/condition/baraitser-winter-syndrome "DO"] synonym: "cerebrofrontofacial syndrome" EXACT [] synonym: "cerebrooculofacial lymphatic syndrome" EXACT [] synonym: "Fryns-Aftimos Syndrome" EXACT [] synonym: "mental retardation with epilepsy and characteristic facies" EXACT [] synonym: "pachygyria, mental retardation, epilepsy, and characteristic facies" EXACT [] xref: GARD:5279 xref: MESH:C563904 xref: MESH:C565258 xref: MIM:PS243310 xref: ORDO:2995 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0060260 ! ptosis is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060230 name: basal ganglia calcification def: "A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (DO)" [http://en.wikipedia.org/wiki/Fahr%27s_syndrome "DO", http://ghr.nlm.nih.gov/condition/familial-idiopathic-basal-ganglia-calcification "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/597/viewAbstract "DO"] synonym: "Fahr disease" EXACT [] xref: MIM:PS213600 xref: NCI:C129973 xref: RDO:9004937 is_a: DOID:182 ! calcinosis is_a: DOID:679 ! basal ganglia disease created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060231 name: Bruck syndrome def: "A syndrome characterized by a combination of multiple joint contractures and osteogenesis imperfecta. (DO)" [http://en.wikipedia.org/wiki/Bruck_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/9129737 "DO"] synonym: "osteogenesis imperfecta with congenital joint contractures" EXACT [] xref: ICD10CM:M21.8 xref: ORDO:2771 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060232 name: branchiootic syndrome def: "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22901925 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/881/viewAbstract "DO"] synonym: "BOR" EXACT [] synonym: "BO syndrome" EXACT [] synonym: "Branchiootic dysplasia" EXACT [] synonym: "INNER EAR MALFORMATION" NARROW [] xref: GARD:10148 xref: MESH:C537104 xref: ORDO:52429 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:0060233 name: cardiofaciocutaneous syndrome def: "A RASopathy characterized by unusually sparse, brittle, curly hair, macrocephaly, a prominent forehead and bi-temporal narrowing, intellectual disability, failure to thrive, congenital heart defects, short stature and skin abnormalities, and has_material_basis_in mutation in the BRAF, MAP2K1, MAP2kK2 and KRAS genes. (DO)" [http://en.wikipedia.org/wiki/Cardiofaciocutaneous_syndrome "DO", http://ghr.nlm.nih.gov/condition/cardiofaciocutaneous-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/877/viewAbstract "DO"] synonym: "cardio-facial-cutaneous syndrome" EXACT [] synonym: "cardio-facio-cutaneous syndrome" EXACT [] synonym: "CFCS" EXACT [] synonym: "CFC syndrome" EXACT [] xref: GARD:9146 xref: MESH:C535579 xref: MIM:PS115150 xref: NCI:C84617 xref: ORDO:1340 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080690 ! RASopathy is_a: DOID:1682 ! congenital heart disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9001276 ! Failure to Thrive is_a: DOID:9001487 ! Facies [Term] id: DOID:0060234 name: Carpenter syndrome def: "An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. (DO)" [http://en.wikipedia.org/wiki/Carpenter_syndrome "DO", http://ghr.nlm.nih.gov/condition/carpenter-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/612/viewAbstract "DO"] synonym: "ACPS 2" EXACT [] synonym: "ACPS II" EXACT [] synonym: "acrocephalopolysyndactyly type 2" EXACT [] synonym: "acrocephalopolysyndactyly type II" EXACT [] xref: GARD:6003 xref: MESH:C563187 xref: MIM:PS201000 xref: NCI:C98873 xref: ORDO:65759 is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060235 name: carnitine palmitoyltransferase II deficiency alt_id: RDO:0000806 def: "A lipid metabolism disorder characterized by an enzymatic defect that prevents long-chain fatty acids from being transported into the mitochondria. (DO)" [http://en.wikipedia.org/wiki/Carnitine_palmitoyltransferase_II_deficiency "DO", http://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-ii-deficiency "DO"] synonym: "CARNITINE DEFICIENCY" BROAD [] synonym: "carnitine palmitoyl transferase 2 deficiency" EXACT [] synonym: "carnitine palmitoyltransferase 2 deficiency" EXACT [] synonym: "carnitine palmitoyltransferase deficiency type 2" EXACT [] synonym: "CPT2 deficiency" EXACT [] synonym: "CPT-II" EXACT [] synonym: "CPT II deficiency" EXACT [] synonym: "infantile carnitine palmitoyltransferase II deficiency" EXACT [] synonym: "lethal neonatal carnitine palmitoyltransferase II deficiency" EXACT [] synonym: "muscle form of carnitine palmitoyltransferase deficiency" EXACT [] xref: MESH:C535589 xref: NCI:C114766 xref: ORDO:157 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0060236 name: xanthinuria def: "A purine-pyrimidine metabolic disorder characterized by deficiency of xanthine oxidase, resulting in excretion of large amounts of xanthine in the urine and the formation of xanthine stones. (DO)" [http://en.wikipedia.org/wiki/Xanthinuria "DO", https://medlineplus.gov/genetics/condition/hereditary-xanthinuria/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/4369449 "DO"] synonym: "classic xanthinuria" EXACT [] synonym: "deficiency of xanthine oxidase" EXACT [] synonym: "hereditary xanthinuria" EXACT [] synonym: "xanthine dehydrogenase deficiency" EXACT [] synonym: "xanthine oxidase deficiency" EXACT [] synonym: "XDH deficiency" EXACT [] xref: MIM:PS278300 xref: ORDO:3467 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:653 ! purine-pyrimidine metabolic disorder created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060237 name: Warburg micro syndrome alt_id: OMIA:001970 def: "A syndrome characterized by severe intellectual disability, microcephaly, congenital cataract, microcornea, microphthalmia, agenesis or hypoplasia of the corpus callosum and hypogenitalism. (DO)" [http://en.wikipedia.org/wiki/Micro_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22768674 "DO"] synonym: "micro syndrome" EXACT [] synonym: "polyneuropathy, ocular abnormalities and neuronal vacuolation" EXACT [] synonym: "WARBM" EXACT [] synonym: "Warburg Sjo Fledelius syndrome" EXACT [] xref: MESH:C536681 xref: MIM:PS600118 xref: ORDO:2510 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:83 ! cataract is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060238 name: Van Maldergem syndrome def: "A syndrome characterized by facial abnormalities such as telecanthus, epicanthus, broad flattened nose, large inverted W-shaped mouth and malformed ears, malformed extremities such as camptodactyly, clinodactyly, interdigital webbing and joint hyperlaxity and mental retardation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1633641 "DO"] synonym: "Cerebrofacioarticular syndrome" EXACT [] synonym: "cerebro-facio-articular syndrome" EXACT [] synonym: "Cerebro-facio-articular syndrome of Van Maldergem" EXACT [] synonym: "Van Maldergem Wetzburger Verloes syndrome" EXACT [] xref: GARD:5456 xref: MESH:C536530 xref: MIM:PS601390 xref: ORDO:314679 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9005077 ! Joint Instability is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060239 name: Van der Woude syndrome alt_id: MIM:119300 def: "A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone. (DO)" [http://en.wikipedia.org/wiki/Van_der_Woude_syndrome "DO", http://ghr.nlm.nih.gov/condition/van-der-woude-syndrome "DO"] synonym: "Cleft lip and-or palate with mucous cysts of lower lip" EXACT [] synonym: "Lip pit syndrome" EXACT [] synonym: "LPS" EXACT [] synonym: "PIT" EXACT [] synonym: "VAN DER WOUDE SYNDROME 1" EXACT [] synonym: "VDWS" EXACT [] synonym: "VWS1" EXACT [] xref: GARD:8414 xref: ICD10CM:Q38.0 xref: MESH:C536528 xref: NCI:C74986 xref: ORDO:888 is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9007583 ! Cysts is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060240 name: UV-sensitive syndrome def: "A skin disease characterized by photosensitivity and liver spots (solar lentigines). (DO)" [http://en.wikipedia.org/wiki/UV-sensitive_syndrome "DO", http://ghr.nlm.nih.gov/condition/uv-sensitive-syndrome "DO"] xref: MESH:C563466 xref: MIM:PS600630 xref: ORDO:178338 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:3159 ! photosensitivity disease [Term] id: DOID:0060241 name: 3-M syndrome def: "A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities. (DO)" [http://en.wikipedia.org/wiki/3-M_syndrome "DO", http://ghr.nlm.nih.gov/condition/3-m-syndrome "DO"] synonym: "3M syndrome" EXACT [] synonym: "dolichospondylic dysplasia" EXACT [] synonym: "Gloomy Face Syndrome" EXACT [] synonym: "GLOOMY FACE SYNDROME YAKUT SHORT STATURE SYNDROME" NARROW [] synonym: "Le Merrer syndrome" EXACT [] synonym: "Miller-McKusick-Malvaux syndrome" EXACT [] synonym: "Miller-McKusick-Malvaux-Syndrome (3M Syndrome)" EXACT [] synonym: "Three-M Slender-Boned Nanism" EXACT [] synonym: "three-M syndrome" EXACT [] synonym: "Yakut short stature syndrome" EXACT [] xref: GARD:5667 xref: MESH:C535314 xref: MIM:PS273750 xref: ORDO:2616 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0060242 name: synpolydactyly def: "A syndactyly characterized by an increased number of digits; often a result of a mutation in the HOXD13 gene. (DO)" [http://en.wikipedia.org/wiki/Synpolydactyly "DO", https://www.ncbi.nlm.nih.gov/pubmed/18177473 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8817328 "DO"] synonym: "syndactyly type 2" EXACT [] xref: GARD:5087 xref: NCI:C75003 xref: ORDO:295195 xref: ORDO:93403 is_a: DOID:11193 ! syndactyly created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060243 name: stuttering def: "An articulation disorder characterized by involuntary sound repetition and disruption or blocking of speech. (DO)" [http://en.wikipedia.org/wiki/Stuttering "DO", http://www.asha.org/public/speech/disorders/stuttering.htm "DO", http://www.merriam-webster.com/dictionary/stutter "DO"] synonym: "acquired stuttering" EXACT [] synonym: "adult stuttering" EXACT [] synonym: "childhood stuttering" EXACT [] synonym: "developmental stuttering" EXACT [] synonym: "familial persistent stuttering" EXACT [] synonym: "stammering" EXACT [] xref: ICD10CM:F80.81 xref: MESH:D013342 xref: MIM:PS184450 xref: NCI:C35043 is_a: DOID:4186 ! articulation disorder [Term] id: DOID:0060244 name: specific language impairment def: "A language disorder characterized by difficulty in language acquisition despite otherwise normal development and in the absence of any obvious explanatory factors. (DO)" [http://en.wikipedia.org/wiki/Specific_language_impairment "DO", https://www.ncbi.nlm.nih.gov/pubmed/19646677 "DO"] synonym: "specific language disorder" EXACT [] synonym: "specific language disorders" EXACT [] xref: EFO:1001510 xref: MESH:D000080888 xref: MIM:PS606711 is_a: DOID:9005466 ! Language Development Disorders created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:0060245 name: MAST syndrome def: "A hereditary spastic paraplegia associated with dementia. (DO)" [http://ghr.nlm.nih.gov/gene/SPG21 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6024251 "DO"] synonym: "autosomal recessive spastic paraplegia 21" EXACT [] synonym: "autosomal recessive spastic paraplegia type 21" EXACT [] synonym: "hereditary spastic paraplegia 21" EXACT [] synonym: "SPG21" EXACT [] xref: MESH:C565409 xref: MIM:248900 xref: MONDO:0009568 xref: ORDO:101001 is_a: DOID:1307 ! dementia is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0060246 name: MASA syndrome alt_id: MIM:303350 def: "A hereditary spastic paraplegia that is characterized by hydrocephalus, spasticity of the lower limbs, adducted thumbs, aphasia, seizures, agenesis of the corpus callosum and intellectual disability in the mild to moderate range. (DO)" [http://en.wikipedia.org/wiki/MASA_syndrome "DO", http://ghr.nlm.nih.gov/condition/l1-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1097/viewAbstract "DO"] synonym: "adducted thumb with mental retardation" EXACT [] synonym: "clasped thumb and mental retardation" EXACT [] synonym: "congenital clasped thumb with mental retardation" EXACT [] synonym: "Crash syndrome" EXACT [] synonym: "Gareis-Mason syndrome" EXACT [] synonym: "hereditary spastic paraplegia 1" EXACT [] synonym: "L1 syndrome" EXACT [] synonym: "MASA (Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs) Syndrome" EXACT [] synonym: "Mental Retardation, Aphasia, Shuffling Gait, Adducted Thumbs (MASA)" EXACT [] synonym: "Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs" EXACT [] synonym: "SPASTIC PARAPLEGIA 1, X-LINKED" EXACT [] synonym: "Spastic paraplegia, type 1" EXACT [] synonym: "Spg1" EXACT [] synonym: "X-linked complicated hereditary spastic paraplegia type 1" EXACT [] synonym: "X-linked corpus callosum agenesis" EXACT [] synonym: "X-linked hydrocephalus syndrome" EXACT [] synonym: "X-linked hydrocephalus with stenosis of the aqueduct of sylvius (Hsas)" EXACT [] xref: GARD:6986 xref: MESH:C536029 xref: NCI:C129930 xref: ORDO:2466 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0060247 name: Smith-McCort dysplasia def: "A Dyggve-Melchior-Clausen disease that is characterized by short limbs and a short trunk with a barrel-shaped chest. (DO)" [https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/1216821 "DO"] synonym: "SMC" EXACT [] xref: GARD:10620 xref: MESH:C564589 xref: MIM:PS607326 xref: ORDO:178355 is_a: DOID:0111167 ! Dyggve-Melchior-Clausen disease [Term] id: DOID:0060248 name: Simpson-Golabi-Behmel syndrome type 1 alt_id: MIM:312870 def: "A syndrome characterized by pre- and postnatal overgrowth and craniofacial, skeletal, cardiac and renal abnormalities and has_material_basis_in mutation in the gene encoding glypican-3 (GPC3) on chromosome Xq26. (DO)" [http://en.wikipedia.org/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome "DO", http://ghr.nlm.nih.gov/condition/simpson-golabi-behmel-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/36720533/ "DO"] synonym: "bulldog syndrome" EXACT [] synonym: "DGSX" EXACT [] synonym: "DGSX Golabi-Rosen syndrome" EXACT [] synonym: "dysplasia gigantism syndrome, X-linked" EXACT [] synonym: "Golabi-Rosen syndrome" EXACT [] synonym: "mental retardation-overgrowth syndrome" EXACT [] synonym: "Sara Angers syndrome" EXACT [] synonym: "SDYS" EXACT [] synonym: "SGBS" EXACT [] synonym: "SGBS1" EXACT [] synonym: "SGB syndrome" EXACT [] synonym: "Simpson dysmorphia syndrome" EXACT [] synonym: "Simpson dysplasia syndrome" EXACT [] synonym: "Simpson-Golabi-Behmel syndrome" EXACT [] synonym: "Simpson syndrome" EXACT [] xref: GARD:7649 xref: MESH:C537340 xref: NCI:C118787 xref: ORDO:373 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9006084 ! Gigantism [Term] id: DOID:0060249 name: scoliosis def: "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine. (DO)" [http://en.wikipedia.org/wiki/Scoliosis "DO", http://www.mayoclinic.org/diseases-conditions/scoliosis/basics/definition/con-20030140 "DO"] synonym: "congenital scoliosis" NARROW [] synonym: "scolioses" EXACT [] xref: EFO:0004273 xref: ICD10CM:M41.9 xref: MESH:D012600 xref: MONDO:0005392 xref: NCI:C78603 is_a: DOID:0080010 ! bone structure disease is_a: DOID:9002608 ! Spinal Curvatures [Term] id: DOID:0060250 name: idiopathic scoliosis def: "A scoliosis with no known cause. (DO)" [http://en.wikipedia.org/wiki/Scoliosis "DO"] synonym: "ADOLESCENT IDIOPATHIC SCOLIOSIS" NARROW [] synonym: "ADOLESCENT ISOLATED SCOLIOSIS" NARROW [] synonym: "AIS" NARROW [] synonym: "idiopathic scoliosis, 3" RELATED [] synonym: "IS1" RELATED [] synonym: "IS2" RELATED [] synonym: "IS3" RELATED [] synonym: "IS4" RELATED [] synonym: "IS5" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 1" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 2" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 3" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 4" RELATED [] synonym: "Isolated Scoliosis, Susceptibility to, 5" RELATED [] xref: EFO:0005423 xref: GARD:552 xref: MIM:181800 xref: MIM:607354 xref: MIM:608765 xref: MIM:612238 xref: MIM:612239 xref: MONDO:0000726 is_a: DOID:0060249 ! scoliosis created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060251 name: sclerosteosis alt_id: RDO:0003382 def: "A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. (DO)" [http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance "DO", https://www.ncbi.nlm.nih.gov/pubmed/11836356 "DO"] synonym: "Cortical hyperostosis with syndactyly" EXACT [] synonym: "SOST" EXACT [] xref: GARD:4771 xref: MESH:C537525 xref: MIM:PS269500 xref: NCI:C131133 is_a: DOID:11193 ! syndactyly is_a: DOID:205 ! hyperostosis [Term] id: DOID:0060252 name: sclerocornea def: "A corneal disease in which the cornea blends with sclera, resulting in clouding of the cornea. (DO)" [http://en.wikipedia.org/wiki/Sclerocornea "DO", https://www.ncbi.nlm.nih.gov/pubmed/3994576 "DO"] synonym: "isolated congenital sclerocornea" EXACT [] synonym: "SCLEROCORNEA, AUTOSOMAL RECESSIVE" NARROW [] xref: MESH:C565209 xref: ORDO:91490 xref: RDO:0013918 is_a: DOID:10124 ! corneal disease [Term] id: DOID:0060253 name: scapuloperoneal myopathy def: "A muscular dystrophy which begins at the lower legs and affects the shoulder region earlier and more severely than distal arm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28179901 "DO"] synonym: "MYH7-RELATED LATE-ONSET SCAPULOPERONEAL MUSCULAR DYSTROPHY" NARROW [] synonym: "scapuloperoneal muscular dystrophy" EXACT [] synonym: "scapuloperoneal syndrome, myopathic type" EXACT [] xref: MESH:C536624 is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0060254 name: Robinow syndrome alt_id: RDO:0012199 def: "A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. (DO)" [http://en.wikipedia.org/wiki/Robinow_syndrome "DO", http://ghr.nlm.nih.gov/condition/robinow-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/696/viewAbstract "DO"] synonym: "acral dysostosis with facial and genital abnormalities" EXACT [] synonym: "autosomal dominant Robinow syndrome" EXACT [] synonym: "fetal face syndrome" EXACT [] synonym: "mesomelic dwarfism-small genitalia syndrome" EXACT [] synonym: "Robinow dwarfism" EXACT [] synonym: "Robinow-Silverman-Smith syndrome" EXACT [] xref: GARD:312 xref: MESH:C562492 xref: MIM:PS268310 xref: NCI:C85048 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060255 name: rippling muscle disease 2 alt_id: DOID:0110302 alt_id: MIM:606072 def: "A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO)" [http://ghr.nlm.nih.gov/condition/rippling-muscle-disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/9537420 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1C" EXACT [] synonym: "caveolinopathy" EXACT [] synonym: "LGMD1C" EXACT [] synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 1C" EXACT [] synonym: "limb-girdle muscular dystrophy type 1C, autosomal recessive" EXACT [] synonym: "muscular dystrophy limb-girdle type IC" EXACT [] synonym: "rippling muscle disease 2, autosomal recessive" NARROW [] synonym: "RMD" EXACT [] synonym: "RMD2" EXACT [] xref: GARD:9164 xref: MESH:C563362 xref: NCI:C148318 xref: NCI:C148325 xref: ORDO:265 xref: ORDO:97238 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0060256 name: Dowling-Degos disease def: "A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases. (DO)" [http://en.wikipedia.org/wiki/Reticular_pigmented_anomaly_of_the_flexures "DO", http://ghr.nlm.nih.gov/condition/dowling-degos-disease "DO"] synonym: "acropigmentatio reticularis" EXACT [] synonym: "dark dot disease" EXACT [] synonym: "DDD" EXACT [] synonym: "Dowling-Degos-Kitamura disease" EXACT [] synonym: "reticular pigment anomaly of flexures" EXACT [] synonym: "RPK" EXACT [] xref: GARD:9775 xref: MESH:C562924 xref: MIM:PS179850 xref: ORDO:79145 is_a: DOID:9003984 ! Hyperpigmentation is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9008246 ! Papulosquamous Skin Diseases [Term] id: DOID:0060257 name: dyschromatosis symmetrica hereditaria def: "A pigmentation disease characterized by progressively pigmented and depigmented macules, often mixed in a reticulate pattern, concentrated on the dorsal extremities. (DO)" [http://en.wikipedia.org/wiki/Dyschromatosis_symmetrica_hereditaria "DO", https://www.ncbi.nlm.nih.gov/pubmed/22974014 "DO"] synonym: "DSH" EXACT [] synonym: "DSH1" EXACT [] synonym: "Dyschromatosis Symmetrica Hereditaria 1" EXACT [] synonym: "Familial reticulate acropigmentation of Dohi" EXACT [] synonym: "RAD" EXACT [] synonym: "reticulate acropigmentation of Dohi" EXACT [] synonym: "symmetrical dyschromatosis of extremities" EXACT [] synonym: "symmetric dyschromatosis of the extremities" EXACT [] xref: MESH:C535729 xref: MIM:127400 xref: MONDO:0007483 xref: NCI:C118435 xref: ORDO:41 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:0060258 name: reticulate acropigmentation of Kitamura def: "A pigmentation disease characterized by lesions that initially arise as letiginous, hyperpigmented macules in a reticular pattern on the dorsal aspect of the hands and feet. Over time, lesions may spread proximally and may darken; palmoplantar pitting and dermatoglyphic disruption may also be present. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22808308 "DO"] synonym: "Acropigmentatio Reticularis" EXACT [] synonym: "Kitamura Reticulate Acropigmentation" EXACT [] synonym: "RAK" EXACT [] synonym: "RAPK" EXACT [] synonym: "Reticulate Pigmentation of Kitamura" EXACT [] synonym: "RPK" EXACT [] xref: MIM:615537 xref: ORDO:178307 is_a: DOID:0060256 ! Dowling-Degos disease [Term] id: DOID:0060259 name: renal-hepatic-pancreatic dysplasia def: "A physical disorder characterized by pancreatic fibrosis, renal dysplasia and hepatic dysgenesis; it is usual fatal soon after birth. (DO)" [http://en.wikipedia.org/wiki/Renal-hepatic-pancreatic_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/17605805 "DO"] synonym: "Ivemark's syndrome" EXACT [] synonym: "RHPD" EXACT [] xref: MESH:C567142 xref: MIM:PS208540 xref: ORDO:294415 is_a: DOID:26 ! pancreas disease is_a: DOID:2975 ! cystic kidney disease is_a: DOID:409 ! liver disease is_a: DOID:758 ! situs inversus created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060260 name: ptosis def: "An eye disease characterized by the drooping or falling of the upper or lower eyelid. (DO)" [http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 "DO"] synonym: "blepharoptoses" EXACT [] synonym: "blepharoptosis" EXACT [] synonym: "drooping eyelid" EXACT [] synonym: "Eyelid Ptoses" EXACT [] synonym: "eyelid ptosis" EXACT [] xref: ICD10CM:H02.4 xref: ICD9CM:374.3 xref: MESH:D001763 xref: NCI:C27298 is_a: DOID:530 ! eyelid disease [Term] id: DOID:0060261 name: congenital ptosis def: "A ptosis characterized by eyelid drop present at birth. (DO)" [http://en.wikipedia.org/wiki/Ptosis_%28eyelid%29 "DO", https://eyewiki.aao.org/Ptosis\,_Congenital "DO"] xref: ICD10CM:Q10.0 xref: ICD9CM:743.61 xref: NCI:C27049 is_a: DOID:0060260 ! ptosis is_a: DOID:0080015 ! physical disorder created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060262 name: gallbladder disease alt_id: RDO:0002740 def: "A gastrointestinal system disease that is located_in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Gallbladder_disease "DO"] synonym: "gall bladder disease" EXACT [] synonym: "Gall Bladder Diseases" EXACT [] synonym: "gallbladder diseases" EXACT [] xref: EFO:0003832 xref: ICD10CM:K82.9 xref: ICD9CM:575.9 xref: MESH:D005705 xref: MIM:PS600803 xref: NCI:C34631 is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:0060263 name: porencephaly def: "A brain disease that is characterized by encephalomalacia and cystic brain lesions. (DO)" [https://en.wikipedia.org/wiki/Cerebral_softening "DO", https://en.wikipedia.org/wiki/Porencephaly "DO"] synonym: "ADT1P" EXACT [] synonym: "autosomal dominant porencephaly type 1" EXACT [] synonym: "congenital porencephaly" EXACT [] synonym: "developmental porencephaly" EXACT [] synonym: "encephaloclastic porencephaly" EXACT [] synonym: "Familial Porencephalic White Matter Disease" EXACT [] synonym: "Familial Porencephaly" EXACT [] synonym: "HEMIPLEGIA, INFANTILE, WITH PORENCEPHALY PORENCEPHALY, TYPE 1" EXACT [] synonym: "Infantile Hemiplegia with Porencephaly" EXACT [] synonym: "POREN1" EXACT [] synonym: "porencephalies" EXACT [] synonym: "porencephaly 1" EXACT [] synonym: "porencephaly type 1" EXACT [] synonym: "post traumatic porencephaly" EXACT [] synonym: "T1P" EXACT [] xref: GARD:7430 xref: ICD10CM:Q04.6 xref: MESH:D065708 xref: ORDO:2940 is_a: DOID:10907 ! microcephaly is_a: DOID:9001684 ! Malformations of Cortical Development, Group III [Term] id: DOID:0060264 name: pontocerebellar hypoplasia def: "A neurodegenerative disease that is characterized by underdevelopment of the pons and cerebellum. (DO)" [https://ghr.nlm.nih.gov/condition/pontocerebellar-hypoplasia#definition "DO"] synonym: "congenital pontocerebellar hypoplasia" EXACT [] synonym: "HEATR5B-ASSOCIATED PONTOCEREBELLAR HYPOPLASIA" NARROW [] synonym: "PCH" EXACT [] xref: GARD:10977 xref: MESH:C580383 xref: MIM:PS607596 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:0060265 name: pontocerebellar hypoplasia type 1A def: "A pontocerebellar hypoplasia that is characterized by central and peripheral motor dysfunction, hypotonia, spasticity and failure to thrive, has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12548734/ "DO"] synonym: "CONGENITAL PONTOCEREBELLAR HYPOPLASIA TYPE 1" BROAD [] synonym: "DISTAL HEREDITARY MOTOR NEUROPATHY ASSOCIATED WITH UPPER MOTOR NEURON SIGNS" RELATED [] synonym: "PCH1A" EXACT [] synonym: "pontocerebellar hypoplasia with anterior horn cell disease" EXACT [] synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" EXACT [] xref: MIM:607596 xref: MONDO:0011866 xref: ORDO:2254 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 [Term] id: DOID:0060266 name: pontocerebellar hypoplasia type 1B def: "A severe pontocerebellar hypoplasia that is characterized by hypotonia, progressive microcephaly and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the EXOSC3 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25149867/ "DO"] synonym: "NON-SYNDROMIC PONTOCEREBELLAR HYPOPLASIA" BROAD [] synonym: "PCH1B" EXACT [] xref: MIM:614678 xref: NCI:C190872 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 [Term] id: DOID:0060267 name: pontocerebellar hypoplasia type 2A def: "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, chorea, epilepsy and hyperreflexia, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)" [https://www.omim.org/entry/277470 "DO"] synonym: "PCH2A" EXACT [] synonym: "Pontocerebellar Hypoplasia with Progressive Cerebral Atrophy" EXACT [] synonym: "Volendam Neurodegenerative Disease" EXACT [] xref: GARD:3631 xref: MESH:C564738 xref: MIM:277470 xref: MONDO:0010190 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060268 name: pontocerebellar hypoplasia type 2B def: "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, clonus, dysphagia and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN2 gene. (DO)" [https://www.omim.org/entry/612389 "DO"] synonym: "PCH2B" EXACT [] xref: MESH:C567325 xref: MIM:612389 xref: MONDO:0012890 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060269 name: pontocerebellar hypoplasia type 2C alt_id: MIM:612390 def: "A severe pontocerebellar hypoplasia that is characterized by progressive microcephaly, extrapyramidal dyskinesia, seizure and failure to thrive, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN34 gene. (DO)" [https://www.omim.org/entry/612390 "DO"] synonym: "PCH2C" EXACT [] xref: MESH:C567324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060270 name: pontocerebellar hypoplasia type 2D def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the SEPSECS gene. (DO)" [https://www.omim.org/entry/613811 "DO"] synonym: "CEREBELLOCEREBRAL ATROPHY, PROGRESSIVE" EXACT [] synonym: "PCCA" EXACT [] synonym: "PCH2D" EXACT [] xref: MIM:613811 xref: ORDO:2524 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060271 name: pontocerebellar hypoplasia type 2E def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, profound intellectual disability, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the VPS53 gene. (DO)" [https://www.omim.org/entry/615851 "DO"] synonym: "PCH2E" EXACT [] xref: MIM:615851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 [Term] id: DOID:0060272 name: pontocerebellar hypoplasia type 3 alt_id: MIM:608027 def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypotonia, dysmorphic features, profound intellectual disability and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the PCLO gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19277761/ "DO"] synonym: "cerebellar atrophy with progressive microcephaly" EXACT [] synonym: "CLAM" EXACT [] synonym: "PCH3" EXACT [] synonym: "PCH with optic atrophy" EXACT [] synonym: "PCLO-RELATED CONDITION" EXACT [] xref: GARD:10708 xref: MESH:C548072 xref: ORDO:97249 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060273 name: pontocerebellar hypoplasia type 4 alt_id: MIM:225753 def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, hypertonia, myoclonus, seizure and early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18711368/ "DO"] synonym: "fatal infantile encephalopathy with olivopontocerebellar hypoplasia" EXACT [] synonym: "olivopontocerebellar hypoplasia lethal type" EXACT [] synonym: "PCH4" EXACT [] synonym: "Young McKeever Squier syndrome" EXACT [] xref: GARD:343 xref: MESH:C536716 xref: ORDO:166063 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060274 name: pontocerebellar hypoplasia type 5 def: "A pontocerebellar hypoplasia that is characterized by severe olivopontocerebellar hypoplasia and degeneration leading to early lethality, has_material_basis_in autosomal recessive inheritance of mutation in the TSEN54 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16470708/ "DO"] synonym: "fetal-onset olivopontocerebellar hypoplasia" EXACT [] synonym: "PCH5" EXACT [] xref: GARD:10709 xref: MESH:C537745 xref: MIM:610204 xref: MONDO:0012438 xref: ORDO:166068 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060275 name: pontocerebellar hypoplasia type 6 alt_id: MIM:611523 def: "A pontocerebellar hypoplasia that is characterized by olivopontocerebellar hypoplasia and developmental delay, has_material_basis_in autosomal recessive inheritance of mutation in the RARS2 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17847012/ "DO", https://www.omim.org/entry/611523 "DO"] synonym: "fatal infantile encephalopathy with mitochondrial respiratory chain defects" EXACT [] synonym: "PCH6" EXACT [] synonym: "RARS2-RELATED CONDITION" EXACT [] xref: GARD:10710 xref: MESH:C548074 xref: ORDO:166073 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060276 name: pontocerebellar hypoplasia type 7 def: "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, hypotonia, gonadal abnormalities and respiratory failure, has_material_basis_in autosomal recessive mutation in the TOE1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21594990/ "DO", MIM:614969] synonym: "PCH7" EXACT [] xref: MIM:614969 xref: MONDO:0013993 xref: ORDO:284339 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060277 name: pontocerebellar hypoplasia type 8 def: "A pontocerebellar hypoplasia that is characterized by delayed psychomotor development, chorea, hypotonia, spasticity and visual defects, has_material_basis_in autosomal recessive inheritance of mutation in the CHMP1A gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23023333/ "DO"] synonym: "PCH8" EXACT [] xref: MIM:614961 xref: ORDO:324569 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060278 name: pontocerebellar hypoplasia type 9 def: "A pontocerebellar hypoplasia that is characterized by progressive microcephaly, spasticity, seizure and brain atrophy, has_material_basis_in autosomal recessive inheritance of mutation in the AMPD2 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23911318/ "DO"] synonym: "PCH9" EXACT [] xref: MIM:615809 xref: MONDO:0014351 xref: ORDO:369920 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060279 name: pontocerebellar hypoplasia type 10 alt_id: RDO:9001048 def: "A pontocerebellar hypoplasia that is characterized by severe developmental delays, progressive microcephaly, spasticity and seizure, has_material_basis_in autosomal recessive inheritance of mutation in the CLP1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24766809/ "DO", https://pubmed.ncbi.nlm.nih.gov/24766810/ "DO"] synonym: "PCH10" EXACT [] xref: MIM:615803 xref: ORDO:411493 is_a: DOID:0060264 ! pontocerebellar hypoplasia [Term] id: DOID:0060280 name: primary pigmented nodular adrenocortical disease def: "An adrenal cortex disease characterized by small to normal sized adrenal glands containing multiple small cortical pigmented nodules. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2212318 "DO"] synonym: "PPNAD" EXACT [] xref: GARD:10906 xref: MIM:PS610489 xref: MONDO:0015999 xref: ORDO:189439 xref: ORDO:647772 is_a: DOID:3952 ! adrenal cortex disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060281 name: photosensitive epilepsy def: "An epilepsy characterized by seizures triggered by visual stimuli that form patterns in space or time, such as flashing lights. (DO)" [http://en.wikipedia.org/wiki/Photosensitive_epilepsy "DO"] synonym: "photogenic epilepsy" EXACT [] synonym: "photoparoxysmal response" EXACT [] synonym: "photosensitive epilepsies" EXACT [] synonym: "PSE" EXACT [] xref: GARD:5648 xref: MIM:PS132100 xref: ORDO:166409 xref: RDO:9004946 is_a: DOID:2548 ! reflex epilepsy is_a: DOID:3159 ! photosensitivity disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060282 name: persistent hyperplastic primary vitreous def: "A developmental vitreous disease that is characterized by leukocoria, strabismus and vision loss, caused by failure of primary vitreous and hyaloid vasculature to regress during embryological development. (DO)" [https://en.wikipedia.org/wiki/Persistent_hyperplastic_primary_vitreous "DO"] synonym: "persistent fetal vasculature syndrome" EXACT [] synonym: "persistent hyaloid arteries" EXACT [] synonym: "Persistent Hyaloid Artery" EXACT [] synonym: "persistent hyaloid vasculature" EXACT [] synonym: "persistent hyaloid vasculatures" EXACT [] xref: MESH:D054514 xref: MIM:PS221900 xref: NCI:C161554 xref: ORDO:91495 is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9720 ! vitreous disease [Term] id: DOID:0060283 name: peeling skin syndrome def: "A skin disease that is characterized by the painless, continuous peeling of the top layer of skin. (DO)" [https://rarediseases.org/rare-diseases/peeling-skin-syndrome/ "DO"] synonym: "deciduous skin" EXACT [] synonym: "familial continuous generalized skin peeling" EXACT [] synonym: "familial continuous skin peeling syndrome" EXACT [] synonym: "keratolysis exfoliativa congenita" EXACT [] synonym: "keratosis exfoliativa congenita" EXACT [] synonym: "peeling skin disease" EXACT [] synonym: "PSS" EXACT [] xref: GARD:7347 xref: MESH:C564818 xref: MIM:PS270300 xref: ORDO:263543 xref: ORDO:817 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9006215 ! Exfoliative Dermatitis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060284 name: paroxysmal nocturnal hemoglobinuria alt_id: MIM:615749 def: "An acquired hemolytic anemia that is characterized by abdominal pain, hematuria, esophageal dysmotility and thrombosis, has_material_basis_in defect in the cell membrane glycosyl phosphatidylinositols that protect red blood cells from the innate complement immune system. (DO)" [https://en.wikipedia.org/wiki/Paroxysmal_nocturnal_hemoglobinuria "DO"] synonym: "C5-RELATED CONDITION" BROAD [] synonym: "cold paroxysmal hemoglobinuria" EXACT [] synonym: "ECULIZUMAB, POOR RESPONSE TO" RELATED [] synonym: "Marchiafava Micheli Syndrome" EXACT [] synonym: "paroxysmal hemoglobinuria" EXACT [] xref: GARD:7337 xref: ICD10CM:D59.5 xref: ICD10CM:D59.6 xref: MESH:D006457 xref: MIM:PS300818 xref: NCI:C61233 xref: ORDO:447 is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:582 ! hemoglobinuria [Term] id: DOID:0060285 name: parietal foramina def: "An inherited neural tube defect that is characterized by enlarged openings in the parietal bones of the skull, has_material_basis_in mutation in the ALX4 gene or MSX2 gene. (DO)" [https://ghr.nlm.nih.gov/condition/enlarged-parietal-foramina "DO"] synonym: "Caitlin marks" EXACT [] synonym: "Catlin marks" EXACT [] synonym: "Cranium Bifidum, Hereditary" EXACT [] synonym: "Cranium Bifidum Occultum" EXACT [] synonym: "Enlarged Parietal Foramina" EXACT [] synonym: "foramina parietalia permagna" EXACT [] synonym: "FPP" EXACT [] synonym: "PFM" EXACT [] synonym: "symmetric parietal foramina" EXACT [] xref: MESH:C566826 xref: MIM:PS168500 xref: MONDO:0018953 xref: ORDO:60015 is_a: DOID:0080074 ! neural tube defect is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0060286 name: combined oxidative phosphorylation deficiency def: "A mitochondrial metabolism disease that is characterized by growth retardation, microcephaly, hypertonia, encephalopathy, cardiomyopathy and liver dysfunction. (DO)" [https://rarediseases.info.nih.gov/diseases/12893/combined-oxidative-phosphorylation-deficiency "DO"] xref: GARD:12893 xref: MIM:PS609060 is_a: DOID:700 ! mitochondrial metabolism disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060287 name: cornea plana def: "A corneal disease that is characterized by a flat cornea where the radius of curvature is less than 43 D. (DO)" [https://disorders.eyes.arizona.edu/handouts/cornea-plana "DO"] synonym: "flat cornea" EXACT [] xref: MIM:PS121400 xref: MONDO:0000733 xref: ORDO:53691 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:0060288 name: omodysplasia def: "An osteochondrodysplasia that is characterized by severe limb shortening and facial dysmorphism. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12210345/ "DO"] xref: MIM:PS258315 xref: ORDO:2733 is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:0060289 name: Ohdo syndrome def: "A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16700052/ "DO"] synonym: "Blepharophimosis Syndrome Ohdo Type" EXACT [] synonym: "mental retardation, congenital heart disease, blepharophimosis, blepharoptosis and hypoplastic teeth" EXACT [] synonym: "Ohdo Blepharophimosis syndrome" EXACT [] synonym: "Ohdo Madokoro Sonoda syndrome" EXACT [] synonym: "tetra-amelia, ectodermal dysplasia, and lacrimal duct abnormality" EXACT [] xref: GARD:3348 xref: MESH:C536232 xref: MESH:C537838 xref: MIM:249620 xref: ORDO:2728 is_a: DOID:0060260 ! ptosis is_a: DOID:10348 ! blepharophimosis is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:0060290 name: Ohdo syndrome, SBBYS variant def: "A Ohdo syndrome that is characterized by blepharophimosis, ptosis and intellectual disability and that has_material_basis_in heterozygous mutation in the KAT6B gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22077973/ "DO", https://rarediseases.info.nih.gov/diseases/10892/blepharophimosis-intellectual-disability-syndromes "DO"] synonym: "autosomal dominant KAT6B-related disorders" BROAD [] synonym: "blepharophimosis and mental retardation syndrome, Say-Barber-Biesecker-Young-Simpson type" EXACT [] synonym: "blepharophimosis-intellectual deficit syndrome, Say-Barber-Biesecker-Young-Simpson type" EXACT [] synonym: "BLEPHAROPHIMOSIS - INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "blepharophimosis-intellectual disability syndrome, SBBYS type" EXACT [] synonym: "KAT6B-RELATED SPECTRUM DISORDER" BROAD [] synonym: "KAT6B-RELATED SPECTRUM DISORDERS" BROAD [] synonym: "Mental retardation unusual facies hypothyroidism" EXACT [] synonym: "Ohdo Syndrome, Say-Barber-Biesecker Variant" EXACT [] synonym: "Ohdo Syndrome, Say-Barber-Biesecker-Young-Simpson Variant" EXACT [] synonym: "Say-Barber-Biesecker-Young-Simpson syndrome" EXACT [] synonym: "Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome" EXACT [] synonym: "SBBYSS" EXACT [] synonym: "SBBYS variant of Ohdo syndrome" EXACT [] synonym: "Young Simpson syndrome" EXACT [] synonym: "YSS" EXACT [] xref: MESH:C536717 xref: MIM:603736 xref: MONDO:0011365 xref: ORDO:3047 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0060289 ! Ohdo syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9005077 ! Joint Instability [Term] id: DOID:0060291 name: oculodentodigital dysplasia alt_id: MIM:164200 def: "A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. (DO)" [http://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia "DO", https://en.wikipedia.org/wiki/Oculodentodigital_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/12021949 "DO"] synonym: "oculo-dento-digital dysplasia" EXACT [] synonym: "Oculodentodigital Syndrome" EXACT [] synonym: "Oculo-Dento-Osseous Dysplasia" EXACT [] synonym: "Oculodentoosseous Dysplasia" EXACT [] synonym: "ODDD" EXACT [] synonym: "ODD Syndrome" EXACT [] synonym: "ODOD" EXACT [] synonym: "osseous-oculo-dental dysplasia" EXACT [] xref: GARD:7239 xref: MESH:C563160 xref: ORDO:2710 is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0060292 name: X-linked chondrodysplasia punctata 1 alt_id: MIM:302950 alt_id: MIM:602497 def: "A chondrodysplasia punctata that is characterized by maxillary hypoplasia, stippled chondrodystrophy, flat nasal tip and short columella, and that has_material_basis_in a mutation in the ARSE gene on chromosome Xp22. (DO)" [https://en.wikipedia.org/wiki/X-linked_recessive_chondrodysplasia_punctata "DO"] synonym: "arylsulfatase E deficiency" EXACT [] synonym: "Brachytelephalangic Chondrodysplasia Punctata" EXACT [] synonym: "brachytelephalangic chondrodysplasia punctata, autosomal" RELATED [] synonym: "CDPX1" EXACT [] synonym: "chondrodystrophia calcificans congenita" EXACT [] synonym: "CPXR" EXACT [] synonym: "X-linked recessive chondrodysplasia punctata 1" EXACT [] xref: ICD10CM:Q77.3 xref: MESH:C580533 xref: ORDO:35173 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2581 ! chondrodysplasia punctata created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060293 name: autosomal dominant chondrodysplasia punctata alt_id: MIM:118650 alt_id: RDO:0012576 def: "A chondrodysplasia punctata that is characterized by abnormal facies and stippling of the limbs, associated with vitamin K-related teratogenicity, has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.omim.org/entry/118650 "DO"] synonym: "chondrodysplasia punctata due to vitamin K deficiency" EXACT [] synonym: "chondrodysplasia punctata due to warfarin teratogenicity" EXACT [] xref: MESH:C563248 xref: ORDO:79344 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2581 ! chondrodysplasia punctata [Term] id: DOID:0060294 name: cold-induced sweating syndrome def: "A syndrome that is characterized by profuse sweating induced by cold ambient temperature. (DO)" [http://ghr.nlm.nih.gov/condition/cold-induced-sweating-syndrome "DO"] synonym: "CISS" EXACT [] synonym: "CNTF receptor-related disorders" EXACT [] synonym: "cold-induced sweating" EXACT [] synonym: "Crisponi syndrome" EXACT [] synonym: "Sohar-Crisponi syndrome" EXACT [] synonym: "tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death" EXACT [] xref: MESH:C536214 xref: MIM:PS272430 xref: ORDO:157820 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9000972 ! Fever is_a: DOID:9001487 ! Facies is_a: DOID:9004062 ! Hyperhidrosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006588 ! Trismus is_a: DOID:9007820 ! Sudden Death is_a: DOID:9008675 ! Dyskinesias created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060295 name: complement component 2 deficiency alt_id: RDO:0008253 def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in autosomal recessive inheritance of mutation in the C2 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency "DO"] synonym: "C2D" EXACT [] synonym: "C2 DEFICIENCY" EXACT [] synonym: "C2 DEFICIENCY, TYPE I" NARROW [] synonym: "C2 DEFICIENCY, TYPE II" NARROW [] synonym: "C2-RELATED DISORDER" BROAD [] xref: GARD:1452 xref: MIM:217000 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060296 name: congenital secretory chloride diarrhea 1 alt_id: MIM:214700 def: "A secretory diarrhea that has_material_basis_in mutation in the SLC26A3 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19861545/ "DO"] synonym: "congenital chloride diarrhea" EXACT [] synonym: "congenital chloride diarrhea, Finnish type" EXACT [] synonym: "congenital chloride diarrhoea Finnish type" EXACT [] synonym: "congenital chloridorrhea" EXACT [] synonym: "congenital secretory chloride diarrhoea 1" EXACT [] synonym: "CONGENITAL SECRETORY DIARRHEA, CHLORIDE TYPE" EXACT [] synonym: "Darrow-Gamble disease" EXACT [] synonym: "DIAR1" EXACT [] synonym: "DIARRHEA 1, SECRETORY CHLORIDE, CONGENITAL" EXACT [] synonym: "SLC26A3-RELATED CONDITION" EXACT [] xref: MESH:C536210 xref: ORDO:53689 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0060297 name: complement component 4A deficiency alt_id: MIM:614380 def: "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4A deficiency. (DO)" [https://www.omim.org/entry/614380 "DO"] synonym: "C4AD" EXACT [] synonym: "C4A Deficiency" EXACT [] xref: MESH:C565167 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060298 name: complement component 4B deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, caused by C4B deficiency. (DO)" [https://www.omim.org/entry/614379 "DO"] synonym: "C4BD" EXACT [] synonym: "C4B DEFICIENCY" EXACT [] xref: MIM:614379 xref: ORDO:169147 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060299 name: complement component 6 deficiency def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C6 gene. (DO)" [https://www.omim.org/entry/612446 "DO"] synonym: "C6D" EXACT [] synonym: "C6 Deficiency" EXACT [] synonym: "C6 deficiency, subtotal" NARROW [] synonym: "complement component 6 deficiency, subtotal" NARROW [] xref: MESH:C567307 xref: MIM:612446 xref: MONDO:0012908 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060300 name: complement component 7 deficiency alt_id: MIM:610102 def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C7 gene. (DO)" [https://www.omim.org/entry/610102 "DO"] synonym: "C7D" EXACT [] synonym: "C7 deficiency" EXACT [] synonym: "C7-RELATED CONDITION" EXACT [] xref: MESH:C566443 xref: ORDO:1695150 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060301 name: type I complement component 8 deficiency def: "A complement deficiency that is characterized by deficiency of the alpha subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8A gene, which produces the alpha subunit of complement component 8 important in forming membrane attack complexes. (DO)" [https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency "DO"] synonym: "C8AG DEFICIENCY" EXACT [] synonym: "C8 ALPHA-GAMMA DEFICIENCY" EXACT [] synonym: "C8D1" EXACT [] synonym: "C8 deficiency type I" EXACT [] synonym: "complement component 8, alpha subunit, A/B polymorphism" RELATED [] xref: MIM:613790 is_a: DOID:1557 ! hypersensitivity reaction type III disease is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060302 name: type II complement component 8 deficiency def: "A complement deficiency that is characterized by deficiency of the beta subunit of complement protein 8, which causes increased susceptibility to recurrent bacterial infections, especially to Neisseria meningitidis, and has_material_basis_in autosomal recessive inheritance of mutation in the C8B gene, which produces the beta subunit of complement component 8 important in forming membrane attack complexes. (DO)" [https://ghr.nlm.nih.gov/condition/complement-component-8-deficiency "DO"] synonym: "C8B DEFICIENCY" EXACT [] synonym: "C8 BETA DEFICIENCY" EXACT [] synonym: "C8B-RELATED CONDITION" EXACT [] synonym: "C8D2" EXACT [] synonym: "C8 deficiency type II" EXACT [] synonym: "COMPLEMENT COMPONENT 8B DEFICIENCY" EXACT [] xref: MIM:613789 is_a: DOID:1557 ! hypersensitivity reaction type III disease is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060303 name: complement component 9 deficiency alt_id: MIM:613825 def: "A complement deficiency that is characterized by recurrent bacterial infections, has_material_basis_in mutation in the C9 gene. (DO)" [https://www.omim.org/entry/613825 "DO"] synonym: "C9D" EXACT [] synonym: "C9 deficiency" EXACT [] synonym: "C9-RELATED CONDITION" BROAD [] xref: ICD10CM:D84.1 xref: MESH:C565165 xref: ORDO:169150 is_a: DOID:626 ! complement deficiency [Term] id: DOID:0060304 name: dyschromatosis universalis hereditaria def: "A pigmentation disease characterized by reticulate hyper- and hypo-pigmentated macules in a generalized distribution. (DO)" [http://en.wikipedia.org/wiki/Dyschromatosis_universalis_hereditaria "DO", https://www.ncbi.nlm.nih.gov/pubmed/12372090 "DO"] xref: GARD:1996 xref: MESH:C535730 xref: MIM:PS127500 xref: NCI:C173131 xref: ORDO:241 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060305 name: megalocornea alt_id: MIM:249300 alt_id: MIM:309300 def: "A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. (DO)" [http://en.wikipedia.org/wiki/Megalocornea "DO", http://ghr.nlm.nih.gov/gene/CHRDL1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6849653 "DO"] synonym: "anterior megalophthalmos" EXACT [] synonym: "congenital anterior megalophthalmia" EXACT [] synonym: "ISOLATED CONGENITAL MEGALOCORNEA" NARROW [] synonym: "MGC1" EXACT [] synonym: "MGCN" EXACT [] synonym: "X-linked megalocornea 1" NARROW [] xref: MESH:C562829 xref: ORDO:91489 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10124 ! corneal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0060306 name: Meier-Gorlin syndrome def: "A syndrome that is characterized by bilateral underdevelopment of the external ear, short stature, absent or underdeveloped patellae and severe prenatal and postnatal growth retardation. (DO)" [http://en.wikipedia.org/wiki/Pre-replication_complex#Meier-Gorlin_syndrome "DO", http://ghr.nlm.nih.gov/condition/meier-gorlin-syndrome "DO", https://medlineplus.gov/genetics/condition/meier-gorlin-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/37059840/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/14564153 "DO"] synonym: "DONSON-RELATED MEIER-GORLIN SYNDROME" NARROW [] synonym: "ear, patella, short stature syndrome" EXACT [] synonym: "EPS" EXACT [] synonym: "microtia, absent patellae, micrognathia syndrome" EXACT [] xref: GARD:2033 xref: MESH:C538012 xref: MIM:PS224690 xref: ORDO:2554 is_a: DOID:225 ! syndrome is_a: DOID:9001502 ! Congenital Microtia is_a: DOID:9005616 ! Micrognathism is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0060307 name: autosomal dominant intellectual developmental disorder def: "A intellectual disability characterized by an autosomal dominant inheritance pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21124998 "DO"] synonym: "autosomal dominant mental retardation" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability" EXACT [] synonym: "autosomal dominant non-syndromic mental retardation" EXACT [] xref: GARD:12107 xref: MIM:PS156200 xref: ORDO:178469 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060308 name: autosomal recessive intellectual developmental disorder def: "A intellectual disability characterized by an autosomal recessive inheritance pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21124998 "DO"] synonym: "autosomal recessive mental retardation" EXACT [] synonym: "autosomal recessive non-syndromic intellectual disability" EXACT [] synonym: "autosomal recessive non-syndromic mental retardation" EXACT [] xref: MIM:PS249500 xref: ORDO:88616 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060309 name: syndromic X-linked intellectual disability def: "A syndromic intellectual disability characterized by an X-linked inheritance pattern. (DO)" [http://en.wikipedia.org/wiki/X-linked_intellectual_disability "DO"] synonym: "syndromic X-linked mental retardation" EXACT [] xref: MIM:PS309510 is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060310 name: uvulitis def: "An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. (DO)" [http://en.wikipedia.org/wiki/Palatine_uvula#Inflammation "DO", https://www.ncbi.nlm.nih.gov/pubmed/8285973 "DO"] synonym: "acute uvulitis" EXACT [] xref: ICD10CM:K12.2 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060311 name: adenoid hypertrophy def: "An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. (DO)" [http://en.wikipedia.org/wiki/Adenoid_hypertrophy "DO", http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/oral_and_pharyngeal_disorders/adenoid_disorders.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001649.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/21126775 "DO"] synonym: "adenoidal hypertrophy" EXACT [] synonym: "enlarged adenoids" EXACT [] xref: ICD10CM:J35.2 xref: ICD9CM:474.12 xref: RDO:9004969 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060312 name: angular cheilitis def: "A cheilitis characterized by inflammation of one or both of the corners of the mouth. (DO)" [http://en.wikipedia.org/wiki/Angular_cheilitis "DO"] synonym: "angular cheilosis" EXACT [] synonym: "angular stomatitis" EXACT [] synonym: "cheilosis" EXACT [] synonym: "commissural cheilitis" EXACT [] xref: NCI:C112198 is_a: DOID:1762 ! cheilitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060313 name: tracheomalacia def: "A tracheal disease characterized by flaccidity of the tracheal support cartilage. (DO)" [http://en.wikipedia.org/wiki/Tracheomalacia "DO"] synonym: "Chondromalacia of Trachea" EXACT [] synonym: "Congenital Tracheomalacia" EXACT [] synonym: "Trachea Chondromalacia" EXACT [] synonym: "Trachea Chondromalacias" EXACT [] synonym: "Tracheomalacias" EXACT [] synonym: "Type 1 tracheomalacia" EXACT [] xref: ICD10CM:Q32.0 xref: MESH:C557675 xref: MESH:D055090 xref: ORDO:95430 is_a: DOID:9003700 ! Tracheobronchomalacia [Term] id: DOID:0060314 name: persistent generalized lymphadenopathy def: "A lymph node disease characterized by enlarged, non-painful lymph nodes occurring for more than three to six months for which no other reason can be found. (DO)" [http://en.wikipedia.org/wiki/Persistent_generalized_lymphadenopathy "DO"] synonym: "PGL" EXACT [] xref: RDO:9003464 is_a: DOID:9004150 ! Lymphadenopathy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060315 name: oral hairy leukoplakia def: "A mouth disease characterized by a white patch on the side of the tongue with a corrugated or hairy appearance; caused by Epstein-Barr virus. (DO)" [http://en.wikipedia.org/wiki/Hairy_leukoplakia "DO"] synonym: "hairy leukoplakia" EXACT [] synonym: "hairy leukoplakias" EXACT [] synonym: "oral hairy leukoplakias" EXACT [] xref: EFO:1001360 xref: ICD10CM:K13.3 xref: MESH:D017733 xref: NCI:C3722 is_a: DOID:2938 ! Epstein-Barr virus infectious disease is_a: DOID:403 ! mouth disease is_a: DOID:9655 ! oral mucosa leukoplakia [Term] id: DOID:0060316 name: orofaciodigital syndrome I def: "An orofaciodigital syndrome that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. (DO)" [http://en.wikipedia.org/wiki/Orofaciodigital_syndrome_1 "DO", https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance "DO"] synonym: "OFD1" EXACT [] synonym: "OFDS I" EXACT [] synonym: "oral-facial-digital syndrome, type 1" EXACT [] synonym: "oral facial digital syndrome, type I" EXACT [] synonym: "orofaciodigital syndrome 1" EXACT [] synonym: "orofaciodigital syndrome type1" EXACT [] synonym: "orofaciodigital syndrome type I" EXACT [] synonym: "Papillon-Leage and Psaume syndrome" EXACT [] synonym: "Papillon-Leage-Psaume syndrome" EXACT [] synonym: "Papillon-League-Psaume syndrome" EXACT [] xref: MESH:C537134 xref: MIM:311200 xref: MONDO:0010702 xref: NCI:C75481 xref: ORDO:2750 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060317 name: lung abscess def: "A lung disease characterized by microbial infection which causes a type of liquefactive necrosis of the pulmonary tissue and formation of cavities containing necrotic debris or fluid. (DO)" [http://en.wikipedia.org/wiki/Lung_abscess "DO"] synonym: "lung abscesses" EXACT [] synonym: "Pulmonary Abscess" EXACT [] synonym: "pulmonary abscesses" EXACT [] xref: EFO:1001362 xref: ICD10CM:J85.2 xref: ICD9CM:513.0 xref: MESH:D008169 xref: NCI:C99090 is_a: DOID:850 ! lung disease is_a: DOID:9000325 ! Abscess is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:0060318 name: acute promyelocytic leukemia alt_id: MIM:612376 def: "An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. (DO)" [http://en.wikipedia.org/wiki/Acute_promyelocytic_leukemia "DO", http://ghr.nlm.nih.gov/condition/acute-promyelocytic-leukemia "DO"] synonym: "acute myeloblastic leukaemia type 3" EXACT [] synonym: "acute myeloblastic leukemia type 3" EXACT [] synonym: "acute myeloid leukaemia M3" EXACT [] synonym: "acute myeloid leukemia, M3" EXACT [] synonym: "acute promyelocytic leukaemia" EXACT [] synonym: "acute promyelocytic leukemias" EXACT [] synonym: "AML M3" EXACT [] synonym: "APL" EXACT [] synonym: "DNA TOPOISOMERASE II, RESISTANCE TO INHIBITION OF, BY AMSACRINE" RELATED [] synonym: "EFO:0000224" EXACT [] synonym: "M3 ANLL" EXACT [] synonym: "progranulocytic leukemia" EXACT [] xref: EFO:0000224 xref: GARD:538 xref: ICD10CM:C92.4 xref: MESH:D015473 xref: NCI:C3182 xref: ORDO:520 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0060319 name: cardiac arrest def: "A congestive heart failure characterized by a sudden stop in effective blood circulation due to the failure of the heart to contract effectively or at all. (DO)" [http://en.wikipedia.org/wiki/Cardiac_arrest "DO", http://www.nlm.nih.gov/medlineplus/cardiacarrest.html "DO"] synonym: "Asystole" EXACT [] synonym: "asystoles" EXACT [] synonym: "Cardiopulmonary Arrest" EXACT [] synonym: "circulatory arrest" EXACT [] synonym: "heart arrest" EXACT [] xref: EFO:0009492 xref: ICD10CM:I46 xref: ICD9CM:427.5 xref: MESH:D006323 xref: NCI:C50479 xref: NCI:C50483 is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:0060320 name: inguinal hernia def: "An intestinal disease characterized by a protrusion of abdominal cavity contests through the inguinal canal. (DO)" [http://en.wikipedia.org/wiki/Inguinal_hernia "DO"] synonym: "Direct Inguinal Hernia" EXACT [] synonym: "Direct Inguinal Hernias" EXACT [] synonym: "Indirect Inguinal Hernia" EXACT [] synonym: "Indirect Inguinal Hernias" EXACT [] synonym: "Inguinal Hernias" EXACT [] xref: ICD10CM:K40 xref: ICD10CM:K40.90 xref: ICD9CM:550 xref: MESH:D006552 xref: NCI:C34690 xref: NCI:C34691 xref: NCI:C34692 is_a: DOID:5295 ! intestinal disease is_a: DOID:9004681 ! Abdominal Hernia [Term] id: DOID:0060321 name: umbilical hernia def: "A intestinal disease characterized by the protrusion by part of the intestine though an opening in the abdominal muscles. (DO)" [http://www.mayoclinic.org/diseases-conditions/umbilical-hernia/basics/definition/con-20025630 "DO", https://en.wikipedia.org/wiki/Umbilical_hernia "DO"] synonym: "Umbilical Hernias" EXACT [] xref: ICD10CM:Q79.2 xref: ICD9CM:756.72 xref: MESH:D006554 xref: NCI:C98997 is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9006325 ! Ventral Hernia [Term] id: DOID:0060322 name: mastoiditis def: "A middle ear disease characterized by an inflammation of the mucosal lining of the mastoid antrum and the mastoid air cell system inside the mastoid process. (DO)" [http://en.wikipedia.org/wiki/Mastoiditis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001034.htm "DO"] synonym: "mastoiditides" EXACT [] xref: ICD10CM:H70.9 xref: ICD9CM:383.9 xref: MESH:D008417 xref: NCI:C128368 is_a: DOID:1019 ! osteomyelitis is_a: DOID:10754 ! otitis media [Term] id: DOID:0060323 name: breast abscess def: "A breast disease characterized by a collection of pus in the breast. (DO)" [http://en.wikipedia.org/wiki/Mastitis#Breast_abscess "DO"] is_a: DOID:3463 ! breast disease is_a: DOID:9000325 ! Abscess created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0060324 name: dental abscess def: "A tooth disease characterized by a localized collection of pus associated with a tooth. (DO)" [http://en.wikipedia.org/wiki/Dental_abscess "DO"] xref: ICD10CM:K04.6 is_a: DOID:1091 ! tooth disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060325 name: cervical polyp def: "A cervix disease characterized by a benign polyp on the surface of the cervical canal. (DO)" [http://en.wikipedia.org/wiki/Cervical_polyp "DO"] xref: EFO:0009475 xref: ICD10CM:D26.9 xref: ICD9CM:219 is_a: DOID:2253 ! cervix disease [Term] id: DOID:0060326 name: myelomeningocele def: "A spina bifida characterized by protrusion of the spinal cord through an opening, covered by meningeal membranes. (DO)" [http://en.wikipedia.org/wiki/Spina_bifida#Myelomeningocele "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001558.htm "DO"] synonym: "acquired meningomyelocele" EXACT [] synonym: "acquired meningomyeloceles" EXACT [] synonym: "Acquired Myelomeningocele" EXACT [] synonym: "acquired myelomeningoceles" EXACT [] synonym: "meningomyelocele" EXACT [] synonym: "Meningomyeloceles" EXACT [] synonym: "myelocele" EXACT [] synonym: "myeloceles" EXACT [] synonym: "myelomeningoceles" EXACT [] xref: EFO:1001369 xref: ICD10CM:Q05 xref: MESH:D008591 xref: NCI:C101201 xref: NCI:C98874 is_a: DOID:0080016 ! spina bifida is_a: DOID:0080074 ! neural tube defect is_a: DOID:319 ! spinal cord disease [Term] id: DOID:0060327 name: omphalocele def: "A physical disorder characterized by a defect in the development of the abdominal wall muscles, resulting in the intestines, liver and other organs to remain outside of the abdomen in a sac. (DO)" [http://en.wikipedia.org/wiki/Omphalocele "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000994.htm "DO"] synonym: "exomphalos" EXACT [] synonym: "omphalocoele" EXACT [] xref: ICD10CM:Q79.2 xref: ICD9CM:756.72 xref: MIM:164750 xref: MIM:310980 xref: MONDO:0019015 xref: NCI:C98997 xref: ORDO:660 is_a: DOID:0080015 ! physical disorder is_a: DOID:9005214 ! Anatomical Pathological Conditions created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060328 name: anal fistula def: "An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. (DO)" [http://en.wikipedia.org/wiki/Anal_fistula "DO"] synonym: "rectal fistula" EXACT [] xref: ICD10CM:K60.3 xref: MESH:D012003 is_a: DOID:1285 ! rectal disease is_a: DOID:9001015 ! Intestinal Fistula [Term] id: DOID:0060329 name: ectopic pregnancy def: "A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. (DO)" [http://en.wikipedia.org/wiki/Ectopic_pregnancy "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000895.htm "DO"] synonym: "eccyesis" EXACT [] synonym: "ectopic pregnancies" EXACT [] synonym: "extrauterine pregnancies" EXACT [] synonym: "extrauterine pregnancy" EXACT [] xref: GARD:6318 xref: ICD10CM:O00 xref: ICD9CM:633 xref: MESH:D011271 xref: NCI:C34945 is_a: DOID:229 ! female reproductive system disease is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:0060330 name: Rapp-Hodgkin syndrome def: "An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. (DO)" [http://rarediseases.info.nih.gov/gard/5690/rapp-hodgkin-syndrome/resources/1 "DO"] synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT [] synonym: "ectodermal dysplasia, Rapp-Hodgkin type" EXACT [] synonym: "ectodermal dysplasia syndrome, Rapp-Hodgkin type" EXACT [] synonym: "nonsyndromic cleft lip with or without cleft palate, 8" NARROW [] synonym: "OFC8" NARROW [] synonym: "RHS" EXACT [] xref: GARD:5690 xref: MESH:C535289 xref: MIM:129400 xref: MONDO:0007508 xref: ORDO:3022 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060331 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 2 alt_id: MIM:614052 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the TMEM70 gene on chromosome 8q21. (DO)" [http://omim.org/entry/614052 "DO"] synonym: "MC5DN2" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, TMEM70 type" EXACT [] synonym: "neonatal mitochondrial encephalocardiomyopathy due to ATP synthase deficiency" EXACT [] synonym: "nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 2" EXACT [] xref: GARD:12965 xref: MESH:C567528 xref: ORDO:1194 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0060332 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5E gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20566710/ "DO"] synonym: "DECREASED ACTIVITY OF MITOCHONDRIAL ATP SYNTHASE COMPLEX" EXACT [] synonym: "MC5DN3" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, ATP5E type" EXACT [] xref: MIM:614053 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0060333 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in mutation in the ATP5F1A gene on chromosome 18q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23599390/ "DO", https://pubmed.ncbi.nlm.nih.gov/34954817/ "DO"] synonym: "ATP5F1A-RELATED CONDITION" BROAD [] synonym: "MC5DN4" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, ATP5A1 type" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, encephalopathic, ATP5A1 type" EXACT [] is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0060334 name: transient neonatal diabetes mellitus def: "A neonatal diabetes that is characterized by hyperglycemia during the neonatal period that remits during infancy but recurs in later life in most patients. (DO)" [http://en.wikipedia.org/wiki/Transient_neonatal_diabetes_mellitus "DO", https://www.ncbi.nlm.nih.gov/pubmed/17349054 "DO"] synonym: "autosomal recessive transient neonatal diabetes mellitus" NARROW [] synonym: "DMTN" EXACT [] synonym: "TNDM" EXACT [] synonym: "transient neonatal diabetes, dominant" NARROW [] synonym: "transient neonatal diabetes, dominant/recessive" NARROW [] synonym: "transient neonatal diabetes, recessive" NARROW [] xref: EFO:0020032 xref: EFO:0020040 xref: GARD:1839 xref: ORDO:99886 is_a: DOID:11717 ! neonatal diabetes created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060335 name: autosomal dominant sideroblastic anemia 4 alt_id: MIM:182170 def: "A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. (DO)" [http://en.wikipedia.org/wiki/Sideroblastic_anemia "DO"] synonym: "SIDBA4" EXACT [] synonym: "sideroblastic anemia 4" EXACT [] xref: MESH:C567160 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0060336 name: 3-methylglutaconic aciduria def: "An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. (DO)" [https://en.wikipedia.org/wiki/3-Methylglutaconic_aciduria "DO"] synonym: "3mga (3-Methylglutaconic Aciduria)" EXACT [] xref: ICD10CM:E71.111 xref: MESH:C579867 xref: MIM:PS250950 xref: ORDO:289902 is_a: DOID:0060159 ! organic acidemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0060337 name: CEDNIK syndrome alt_id: MIM:609528 def: "A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21073448 "DO"] synonym: "cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome" EXACT [] synonym: "cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome" EXACT [] xref: MESH:C537943 xref: ORDO:66631 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9001734 ! Neurocutaneous Syndromes [Term] id: DOID:0060338 name: parameningeal embryonal rhabdomyosarcoma def: "An embryonal rhabdomyosarcoma located in the parameningeal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10717216 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23021437 "DO"] is_a: DOID:3246 ! embryonal rhabdomyosarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060339 name: chronic atrial and intestinal dysrhythmia alt_id: RDO:9000750 def: "A syndrome characterized by a unique combination of cardiac arrhythmias and intestinal pseudo-obstruction. It has_material_basis_in the mutated SGOL1 protein. Distinctive clinical features include atrial dysrhythmias, sick sinus syndrome (SSS) and valve anomalies and chronic intestinal pseudo-obstruction (CIPO). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25282101 "DO"] synonym: "CAID" EXACT [] synonym: "CAID syndrome" EXACT [] xref: MIM:616201 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:114 ! heart disease is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0060340 name: ciliopathy def: "A syndrome associated with mutations encoding defective proteins, which result in either abnormal function formation or function of cilia. (DO)" [http://en.wikipedia.org/wiki/Ciliopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/18178628 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21210154 "DO"] synonym: "ciliopathies" EXACT [] xref: EFO:0003900 xref: MESH:D000072661 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060341 name: agnathia-otocephaly complex alt_id: MIM:202650 def: "A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17438667 "DO"] synonym: "agnathia-holoprosencephaly" EXACT [] synonym: "agnathia-holoprosencephaly-situs inversus syndrome" EXACT [] synonym: "AGOTC" EXACT [] synonym: "dysgnathia complex" EXACT [] synonym: "dysgnathia complex, agnathia-holoprosencephaly" EXACT [] synonym: "otocephaly" EXACT [] xref: ICD10CM:Q18.2 xref: MESH:C537996 xref: MESH:C562503 xref: ORDO:990 is_a: DOID:0080015 ! physical disorder is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9000066 ! Jaw Abnormalities [Term] id: DOID:0060342 name: acromelic frontonasal dysostosis alt_id: MIM:603671 def: "A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15264282 "DO"] synonym: "AFND" EXACT [] synonym: "ZSWIM6-RELATED CONDITION" BROAD [] xref: GARD:5539 xref: MESH:C566345 xref: ORDO:1827 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060343 name: glucocorticoid-induced osteoporosis def: "An osteoporosis caused by chronic glucocorticoid use. Glucocorticoids impair the replication, differentiation and function of osteoblasts and induce the apoptosis of mature osteoblasts and osteocytes; the also favor osteoclastogenesis leading to an increase in bone resorption. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17566815 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22870429 "DO"] synonym: "steroid-induced osteoporosis" RELATED [] xref: RDO:9002014 is_a: DOID:11476 ! osteoporosis created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0060344 name: acrodermatitis chronica atrophicans def: "An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. (DO)" [http://en.wikipedia.org/wiki/Acrodermatitis_chronica_atrophicans "DO", http://www.dermis.net/dermisroot/en/35111/diagnose.htm "DO"] synonym: "Herxheimer disease" EXACT [] synonym: "primary diffuse atrophy" EXACT [] xref: EFO:1000665 xref: ICD9CM:701.8 is_a: DOID:2722 ! acrodermatitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060345 name: bacillary angiomatosis def: "A bartonellosis that has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella quintana. The disease is characterized by the proliferation of blood vessels, resulting in them forming tumour-like masses in the skin and other organs. (DO)" [http://en.wikipedia.org/wiki/Bacillary_angiomatosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/9407154 "DO"] synonym: "bacillary angiomatoses" EXACT [] synonym: "Bacillary Epithelioid Angiomatoses" EXACT [] synonym: "Bacillary Epithelioid Angiomatosis" EXACT [] synonym: "Epithelioid Angiomatoses" EXACT [] synonym: "epithelioid angiomatosis" EXACT [] xref: MESH:D016917 xref: NCI:C3477 is_a: DOID:11102 ! bartonellosis is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9004079 ! Angiomatosis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:0060346 name: Native American myopathy def: "A congenital myopathy that is characterized by congenital weakness, arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kykphoscoliosis, talipes deformities and susceptibility to malignant hyperthermia provoked by anesthesia and that has_material_basis_in homozygous mutation in the STAC3 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18553514 "DO"] synonym: "Bailey-Bloch congenital myopathy" EXACT [] synonym: "Baily-Bloch congenital myopathy" EXACT [] synonym: "CMYO13" EXACT [] synonym: "CMYP13" EXACT [] synonym: "congenital myopathy 13" EXACT [] synonym: "congenital myopathy cleft palate and malignant hyperthermia" EXACT [] synonym: "congenital myopathy, with cleft palate and malignant hyperthermia" EXACT [] synonym: "congenital myopathy with myopathic facies, scoliosis, and malignant hyperthermia" EXACT [] synonym: "MYPBB" EXACT [] synonym: "NAM" EXACT [] xref: GARD:8432 xref: MESH:C538343 xref: MIM:255995 xref: MONDO:0009722 xref: ORDO:168572 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:2106 ! myotonia congenita is_a: DOID:674 ! cleft palate is_a: DOID:8545 ! malignant hyperthermia [Term] id: DOID:0060347 name: acrorenal syndrome alt_id: MIM:102520 def: "A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26019842 "DO"] xref: MESH:C563159 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0060348 name: hypoparathyroidism-retardation-dysmorphism syndrome alt_id: MIM:241410 def: "A syndrome characterized by permanent parathyroid hormone (PTH) deficiency, hypocalcemia, hyperphosphatemia, facial anomalies, and psychomotor retardation that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene on chromosome 1q42.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15645691 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24339556 "DO"] synonym: "congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay" EXACT [] synonym: "HRDS" EXACT [] synonym: "HRD syndrome" EXACT [] synonym: "Hypoparathyroidism with short stature, mental retardation, and seizures" EXACT [] synonym: "Sanjad-Sakati syndrome" EXACT [] xref: GARD:411 xref: MESH:C537157 xref: NCI:C133727 xref: ORDO:2323 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11199 ! hypoparathyroidism is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060349 name: microcephaly with or without chorioretinopathy, lymphedema, or mental retardation def: "A syndrome characterized by variable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10482868 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11302131 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25124931 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5936364 "DO"] synonym: "CDMMR syndrome" EXACT [] synonym: "chorioretinal dysplasia-microcephaly-mental retardation syndrome" EXACT [] synonym: "KIF11-RELATED CONDITION" EXACT [] synonym: "lymphedema and retinal folds with ficrocephaly and microphthalmos" EXACT [] synonym: "lymphedema and retinal folds with microcephaly and microphthalmos" EXACT [] synonym: "lymphedema, microcephaly and chorioretinopathy syndrome" EXACT [] synonym: "lymphedema, microcephaly, chorioretinopathy syndrome" EXACT [] synonym: "MCLMR" EXACT [] synonym: "microcephaly and chorioretinopathy with or without mental retardation, autosomal dominant" EXACT [] synonym: "microcephaly lymphedema chorioretinal dysplasia" EXACT [] synonym: "microcephaly, lymphedema, chorioretinal dysplasia syndrome" EXACT [] synonym: "microcephaly with or without chorioretinopathy, lymphedema, or impaired intellectual development" EXACT [] synonym: "MLCRD syndrome" EXACT [] xref: MESH:C537711 xref: MIM:152950 xref: MONDO:0007918 xref: ORDO:2526 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema is_a: DOID:9001487 ! Facies is_a: DOID:9006597 ! Retinal Dysplasia [Term] id: DOID:0060350 name: adenine phosphoribosyltransferase deficiency alt_id: MIM:614723 def: "A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. (DO)" [http://ghr.nlm.nih.gov/condition/adenine-phosphoribosyltransferase-deficiency "DO", https://en.wikipedia.org/wiki/Adenine_phosphoribosyltransferase_deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/22700886/ "DO", https://pubmed.ncbi.nlm.nih.gov/8864750/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20150536 "DO"] synonym: "2,8-Dihydroxyadenine Urolithiasis" EXACT [] synonym: "2,8-Dihydroxyadeninuria" EXACT [] synonym: "APRTD" EXACT [] synonym: "APRT Deficiency" EXACT [] synonym: "DHA Crystalline Nephropathy" EXACT [] synonym: "Nephrolithiasis, DHA" EXACT [] synonym: "Urolithiasis, DHA" EXACT [] xref: GARD:10666 xref: GARD:546 xref: MESH:C538228 xref: NCI:C121564 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080653 ! urolithiasis is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:0060351 name: mitochondrial complex III deficiency nuclear type 2 def: "A mitochondrial metabolism disease characterized by motor disability, with ataxia, apraxia, dystonia, and dysarthria, associated with necrotic lesions throughout the brain and has_material_basis_in mutation in the TTC19 gene on chromosome 17. It has an autosomal recessive inheritance pattern. (DO)" [http://www.omim.org/entry/615157 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21278747 "DO"] synonym: "MC3DN2" EXACT [] xref: MIM:615157 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0060352 name: Kleefstra syndrome 1 alt_id: DOID:0070075 def: "A Kleefstra syndrome that is characterized by severe mental retardation, hypotonia, microcephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects and that has_material_basis_in a microdeletion in the chromosome region 9q34.3 or by a point mutation in the EHMT1 gene located in that region. (DO)" [https://en.wikipedia.org/wiki/9q34_deletion_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15264279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16826528 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21245904 "DO"] synonym: "9q34.3 deletion syndrome" EXACT [] synonym: "9q34.3 microdeletion syndrome" EXACT [] synonym: "9q34 deletion syndrome" EXACT [] synonym: "9q subtelomeric deletion syndrome" EXACT [] synonym: "9q- syndrome" EXACT [] synonym: "chromosome 9q34.3 deletion syndrome" EXACT [] synonym: "chromosome 9Q deletion syndrome" EXACT [] synonym: "EHMT1-RELATED CONDITION" EXACT [] synonym: "KLEFS1" EXACT [] xref: GARD:8672 xref: MESH:C563043 xref: MIM:610253 xref: MONDO:0027407 xref: ORDO:261494 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:0080597 ! Kleefstra syndrome [Term] id: DOID:0060353 name: acrofacial dysostosis Cincinnati type def: "An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has_material_basis_in heterozygous mutation in the POLR1A gene on chromosome 2p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25913037 "DO"] synonym: "AFDCIN" EXACT [] synonym: "Cincinnati type of acrofacial dysostosis" EXACT [] synonym: "POLR1A-RELATED CONDITION" BROAD [] xref: MIM:616462 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060354 name: Stormorken syndrome alt_id: MIM:185070 def: "A blood platelet disease characterized by thrombocytopathy, thrombocytopenia, mild anemia, asplenia, tubular aggregate myopathy, miosis, headache, and ichthyosis. It has_material_basis_in heterozygous mutation in the STM1 gene on chromosome 11p15. It has an autosomal dominant inheritance pattern. (DO)" [http://ghr.nlm.nih.gov/condition/stormorken-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/24619930 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25577287 "DO"] synonym: "thrombocytopathy, asplenia, and miosis" EXACT [] xref: MESH:C566108 xref: ORDO:3204 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1697 ! ichthyosis is_a: DOID:2218 ! blood platelet disease is_a: DOID:225 ! syndrome is_a: DOID:4428 ! dyslexia is_a: DOID:6364 ! migraine is_a: DOID:9003165 ! Miosis [Term] id: DOID:0060355 name: amyotrophic lateral sclerosis type 22 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TUBA4A gene on chromosome 2q35. (DO)" [http://omim.org/entry/616208 "DO"] synonym: "ALS 22" EXACT [] synonym: "ALS22" EXACT [] synonym: "amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [] synonym: "amyotrophic lateral sclerosis 22" EXACT [] synonym: "amyotrophic lateral sclerosis 22 with frontotemporal dementia" EXACT [] synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" EXACT [] xref: MIM:616208 xref: MONDO:0014531 is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0060356 name: Vici syndrome def: "A syndrome characterized by callosal agenesis, cataracts, cardiomyopathy, combined immunodeficiency and hypopigmentation. It has_material_basis_in mutation in the EPG5 gene on chromosome 18q12.3. (DO)" [https://en.wikipedia.org/wiki/Vici_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21965116 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23222957 "DO"] synonym: "absent corpus callosum, cataract immunodeficiency" EXACT [] synonym: "EPG5-RELATED CONDITION" EXACT [] synonym: "immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum" EXACT [] synonym: "VICIS" EXACT [] xref: GARD:448 xref: MESH:C535566 xref: MIM:242840 xref: MONDO:0009452 xref: NCI:C138174 xref: ORDO:1493 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:0060357 name: chylomicron retention disease alt_id: MIM:246700 def: "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. (DO)" [https://en.wikipedia.org/wiki/Chylomicron_retention_disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/10521380 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20920215 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3430059 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3792776 "DO"] synonym: "ANDD" EXACT [] synonym: "Anderson disease" EXACT [] synonym: "Anderson Syndrome" EXACT [] synonym: "CMRD" EXACT [] synonym: "Hypobetalipoproteinemia with Accumulation of Apolipoprotein B-Like Protein In Intestinal Cells" EXACT [] synonym: "lipid transport defect of intestine" EXACT [] xref: GARD:9683 xref: MESH:C535460 xref: ORDO:71 is_a: DOID:1390 ! hypobetalipoproteinemia is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:0060358 name: multiple acyl-CoA dehydrogenase deficiency alt_id: MIM:231680 def: "An inherited metabolic disorder characterized by the body's inability to break down proteins and fats to produce energy. It is a disorder of fatty acid, amino acid, and choline metabolism and has an autosomal recessive inheritance pattern. It has_material_basis_in mutations in the ETFA, ETFB and ETFDH genes. It presents three clinical phenotypes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal. (DO)" [http://ghr.nlm.nih.gov/condition/glutaric-acidemia-type-ii "DO", https://en.wikipedia.org/wiki/Glutaric_acidemia_type_2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12815589 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22580358 "DO"] synonym: "electron transfer flavoprotein alpha subunit deficiency" NARROW [] synonym: "Electron Transfer Flavoprotein Beta Subunit Deficiency" NARROW [] synonym: "Electron Transfer Flavoprotein Deficiency" EXACT [] synonym: "Electron Transfer Flavoprotein Dehydrogenase Deficiency" NARROW [] synonym: "electron transfer flavoprotein ubiquinone oxidoreductase deficiency" EXACT [] synonym: "EMA GLUTARIC ACIDEMIA IIA" NARROW [] synonym: "ETFA deficiencies" NARROW [] synonym: "ETFA DEFICIENCY" NARROW [] synonym: "ETFB Deficiencies" NARROW [] synonym: "ETFB DEFICIENCY" NARROW [] synonym: "ETFDH Deficiencies" NARROW [] synonym: "ETFDH DEFICIENCY" NARROW [] synonym: "ETHYLMALONIC-ADIPICACIDURIA" EXACT [] synonym: "Ethylmalonic Adipic Aciduria" EXACT [] synonym: "Ethylmalonic-Adipic Acidurias" EXACT [] synonym: "GA II" NARROW [] synonym: "GLUTARIC ACIDEMIA II" NARROW [] synonym: "GLUTARIC ACIDEMIA IIB" NARROW [] synonym: "GLUTARIC ACIDEMIA IIC" NARROW [] synonym: "GLUTARIC ACIDEMIA IIC, LATE-ONSET" NARROW [] synonym: "Glutaric Acidemia, Type 2" NARROW [] synonym: "GLUTARIC ACIDEMIA TYPE 2C" NARROW [] synonym: "Glutaric Acidemia Type II" NARROW [] synonym: "Glutaric Aciduria II" NARROW [] synonym: "Glutaric Aciduria IIA" NARROW [] synonym: "Glutaric Aciduria IIB" NARROW [] synonym: "Glutaric Aciduria IIC" NARROW [] synonym: "Glutaric Aciduria Type 2" NARROW [] synonym: "Glutaric Aciduria Type II" NARROW [] synonym: "MADD" EXACT [] synonym: "MADD (multiple acyl-CoA dehydrogenase deficiency)" EXACT [] synonym: "MAD deficiency" EXACT [] synonym: "MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY, SEVERE NEONATAL TYPE" NARROW [] synonym: "multiple FAD dehydrogenase deficiency" EXACT [] xref: ICD10CM:E71.313 xref: MESH:D054069 xref: NCI:C84907 xref: ORDO:26791 is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060359 name: Sakati-Nyhan syndrome alt_id: MIM:101120 def: "An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. (DO)" [https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome "DO"] synonym: "ACPS III" EXACT [] synonym: "ACPS with leg hypoplasia" EXACT [] synonym: "acrocephalopolysyndactyly type 3" EXACT [] synonym: "acrocephalopolysyndactyly type III" EXACT [] synonym: "Sakati-Nyhan-Tisdale syndrome" EXACT [] synonym: "Sakati syndrome" EXACT [] xref: GARD:115 xref: MESH:C537227 xref: ORDO:3128 is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:225 ! syndrome [Term] id: DOID:0060360 name: hereditary papulotranslucent acrokeratoderma alt_id: MIM:101840 alt_id: RDO:0014709 def: "A keratosis of the hands and feet characterized by persistent, asymptomatic, yellowish to white papules and plaques associated with fine-textured scalp hair and an atopic diathesis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16409913 "DO"] xref: EFO:1000708 xref: MESH:C566323 is_a: DOID:161 ! keratosis is_a: DOID:869 ! cholesteatoma is_a: DOID:9003842 ! Foot Dermatoses [Term] id: DOID:0060361 name: punctate palmoplantar keratoderma def: "A palmoplantar keratosis characterized by keratoses with a raindrop pattern on the palmoplantar surface, skin lesions which may involve the whole of the palmoplantar surface, or may be more restricted in their distribution. (DO)" [https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Punctate "DO"] synonym: "punctate keratosis palmoplantaris" RELATED [] synonym: "punctate palmoplantar hyperkeratosis" EXACT [] xref: ORDO:307967 is_a: DOID:3390 ! palmoplantar keratosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060362 name: punctate palmoplantar keratoderma type III def: "A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. (DO)" [https://rarediseases.info.nih.gov/diseases/3103/punctate-palmoplantar-keratoderma-type-i "DO"] synonym: "acrokeratoelastoidosis of Costa" EXACT [] synonym: "collagenous plaques of hand and feet" EXACT [] synonym: "collagenous plaques of hands and feet" EXACT [] synonym: "palmoplantar keratoderma, punctate type 3" EXACT [] synonym: "PPKP3" EXACT [] synonym: "punctate palmoplantar hyperkeratosis type 3" EXACT [] xref: EFO:1000758 xref: MESH:C535653 xref: MIM:101850 xref: MONDO:0007047 xref: ORDO:38 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060361 ! punctate palmoplantar keratoderma [Term] id: DOID:0060363 name: glycerol kinase deficiency def: "An inherited metabolic disorder characterized_by wide range of phenotypic variability; patients can have severe metabolic and CNS abnormalities, while others possess hyperglycerolemia and glyceroluria with no other apparent phenotype and that has_material_basis_in mutation in the GK gene on chromosome Xp21. (DO)" [https://en.wikipedia.org/wiki/Glycerol_kinase_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/22427807 "DO"] synonym: "DEFICIENCY OF GLYCEROL KINASE" EXACT [] synonym: "GK1 deficiency" EXACT [] synonym: "GKD" EXACT [] synonym: "GK deficiency" EXACT [] synonym: "GK-RELATED CONDITION" EXACT [] synonym: "hyperglycerolemia" EXACT [] xref: MIM:307030 xref: NCI:C124845 xref: ORDO:408 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0060364 name: Galloway-Mowat syndrome 1 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. (DO)" [https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/26123727/ "DO"] synonym: "autosomal recessive spinocerebellar ataxia 5" EXACT [] synonym: "Galloway syndrome" EXACT [] synonym: "GAMOS1" EXACT [] synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [] synonym: "nephrosis-microcephaly syndrome" EXACT [] synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [] synonym: "SCAR5" EXACT [] synonym: "WDR73-RELATED CONDITION" EXACT [] xref: MIM:251300 xref: MONDO:0033005 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome created_by: gthayman creation_date: 2019-03-13T00:00:00Z [Term] id: DOID:0060365 name: mandibulofacial dysostosis with alopecia def: "A syndrome characterized by malar and mandibular hypoplasia, typically associated with abnormalities of the ears and eyelids, and with alopecia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25772936 "DO"] synonym: "MFDA" EXACT [] xref: MIM:616367 is_a: DOID:225 ! syndrome is_a: DOID:9008003 ! Mandibulofacial Dysostosis is_a: DOID:987 ! alopecia created_by: rgd creation_date: 2017-05-04T00:00:00Z [Term] id: DOID:0060366 name: Hennekam syndrome def: "A lymphatic system disease characterized by he presence of intestinal lymphangiectasia, mental retardation, and characteristic facial anomalies. It is inherited in an autosomal recessive pattern. Most individuals with Hennekam syndrome have characteristic facial abnormalities, such as a flat face with accompanying puffy eyelids and hypertelorism; the nasal bridge is typically flat and the ears are typically small. Congenital extremity and genital lymphedema is present in most patients. (DO)" [http://ghr.nlm.nih.gov/condition/hennekam-syndrome "DO", https://en.wikipedia.org/wiki/Hennekam_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/14564208 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24870712 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2624276 "DO"] synonym: "generalized lymphatic dysplasia" EXACT [] synonym: "Hennekam Lymphangiectasia Lymphedema Syndrome" EXACT [] synonym: "Lymphangiectasies and lymphedema Hennekam type" EXACT [] synonym: "lymphedema-lymphangiectasia-intellectual disability syndrome" EXACT [] synonym: "lymphedem-lymphangiectasia-intellectual disability syndrome" EXACT [] xref: GARD:3318 xref: MESH:C537255 xref: MIM:PS235510 xref: ORDO:2136 is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema is_a: DOID:75 ! lymphatic system disease is_a: DOID:9005821 ! Intestinal Lymphangiectasis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060367 name: Parkinson's disease 1 alt_id: MIM:168601 def: "A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. (DO)" [http://www.omim.org/entry/168601 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "atypical Parkinson's disease" EXACT [] synonym: "atypical Parkinson disease" EXACT [] synonym: "autosomal dominant Parkinson's disease" EXACT [] synonym: "autosomal dominant Parkinson's disease 1" EXACT [] synonym: "autosomal dominant Parkinson's disease 1, Lewy body" EXACT [] synonym: "autosomal dominant Parkinson disease" EXACT [] synonym: "autosomal dominant Parkinson disease 1" EXACT [] synonym: "familial Parkinson's disease, type 1" EXACT [] synonym: "Lewy Body Parkinsonism" EXACT [] synonym: "PARK1" EXACT [] synonym: "PARKINSON DISEASE 1, AUTOSOMAL DOMINANT LEWY BODY" EXACT [] synonym: "Parkinson Disease, Familial, Type 1" EXACT [] xref: MESH:C566823 xref: NCI:C198602 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0060368 name: Parkinson's disease 2 alt_id: MIM:600116 def: "An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal recessive juvenile Parkinson's disease 2" EXACT [] synonym: "autosomal recessive juvenile Parkinson disease 2" EXACT [] synonym: "autosomal recessive Parkinson disease, early onset" EXACT [] synonym: "early onset Parkinsonism with diurnal fluctuation" EXACT [] synonym: "PARK2" EXACT [] synonym: "Parkinson disease 2" EXACT [] synonym: "young-onset Parkinson disease" EXACT [] xref: NCI:C198603 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060369 name: Parkinson's disease 6 alt_id: MIM:605909 def: "An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal recessive early-onset Parkinson's disease 6" EXACT [] synonym: "autosomal recessive early-onset Parkinson disease 6" EXACT [] synonym: "early-onset Parkinson disease 6" EXACT [] synonym: "PARK6" EXACT [] synonym: "PARKINSON'S DISEASE 6, EARLY-ONSET" NARROW [] synonym: "PARKINSON'S DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO" NARROW [] synonym: "PARKINSON'S DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1" NARROW [] synonym: "Parkinson disease 6" EXACT [] synonym: "PARKINSON DISEASE 6, LATE-ONSET, SUSCEPTIBILITY TO" NARROW [] synonym: "PARKINSON DISEASE, AUTOSOMAL RECESSIVE EARLY-ONSET, DIGENIC, PINK1/DJ1" NARROW [] synonym: "PINK1-related parkinsonism" EXACT [] xref: MESH:C565276 xref: NCI:C184990 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0060370 name: Parkinson's disease 7 alt_id: MIM:606324 def: "An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal recessive early-onset Parkinson's disease 7" EXACT [] synonym: "autosomal recessive early-onset Parkinson disease 7" EXACT [] synonym: "PARK7" EXACT [] synonym: "Parkinson disease 7" EXACT [] xref: MESH:C565238 xref: NCI:C198606 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060371 name: Parkinson's disease 8 alt_id: MIM:607060 def: "A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal dominant Parkinson's disease 8" EXACT [] synonym: "autosomal dominant Parkinson disease 8" EXACT [] synonym: "LRRK2-RELATED CONDITION" EXACT [] synonym: "PARK8" EXACT [] synonym: "Parkinson disease 8" EXACT [] xref: MESH:C564631 xref: NCI:C198605 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0060372 name: Parkinson's disease 15 alt_id: MIM:260300 def: "An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22315721 "DO"] synonym: "autosomal recessive early-onset Parkinson's disease 15" EXACT [] synonym: "autosomal recessive early-onset Parkinson disease 15" EXACT [] synonym: "pallido-pyramidal disease" EXACT [] synonym: "Pallidopyramidal Syndrome" EXACT [] synonym: "pallido-pyramidal syndrome" EXACT [] synonym: "PARK15" EXACT [] synonym: "Parkinson's disease 15, autosomal recessive" EXACT [] synonym: "PARKINSON DISEASE 15" EXACT [] synonym: "Parkinson Disease 15, Autosomal Recessive" EXACT [] synonym: "parkinsonian-pyramidal syndrome" EXACT [] synonym: "PKPS" EXACT [] xref: MESH:C538104 xref: NCI:C198607 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:225 ! syndrome is_a: DOID:529 ! blepharospasm [Term] id: DOID:0060373 name: orofaciodigital syndrome III alt_id: MIM:258850 def: "An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/10518/orofaciodigital-syndrome-3 "DO"] synonym: "brachydactyly of the hands and feet with duplication of the first toes" EXACT [] synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [] synonym: "OFDS III" EXACT [] synonym: "oral-facial-digital syndrome 3" EXACT [] synonym: "oral-facial-digital syndrome, type III" EXACT [] synonym: "orofaciodigital syndrome 3" EXACT [] synonym: "Sugarman syndrome" EXACT [] xref: MESH:C557817 xref: ORDO:2752 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060374 name: orofaciodigital syndrome IV alt_id: MIM:258860 def: "An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/816/orofaciodigital-syndrome-4 "DO"] synonym: "Baraitser-Burn syndrome" EXACT [] synonym: "Mohr-Majewski Syndrome" EXACT [] synonym: "OFD4" EXACT [] synonym: "OFDS IV" EXACT [] synonym: "OFD Syndrome, Baraitser-Burn Type" EXACT [] synonym: "OFD syndrome with tibial defects" EXACT [] synonym: "oral-facial-digital syndrome, type IV" EXACT [] synonym: "orofacial-digital syndrome IV" EXACT [] synonym: "orofaciodigital syndrome 4" EXACT [] synonym: "orofaciodigital syndrome with tibial dysplasia" EXACT [] xref: MESH:C537133 xref: ORDO:2753 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060375 name: orofaciodigital syndrome V alt_id: MIM:174300 def: "An orofaciodigital syndrome that is characterized by postaxial polydactyly and median cleft of the upper lip and has_material_basis_in homozygous mutation in the DDX59 gene on chromosome 1q32. (DO)" [https://rarediseases.info.nih.gov/diseases/4120/orofaciodigital-syndrome-5 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23972372 "DO"] synonym: "OFD5" EXACT [] synonym: "OFDS V" EXACT [] synonym: "oral-facial-digital syndrome 5" EXACT [] synonym: "oral-facial-digital syndrome, type V" EXACT [] synonym: "orofaciodigital syndrome 5" EXACT [] synonym: "orofaciodigital syndrome Thurston type" EXACT [] synonym: "postaxial polydactyly with median cleft of upper lip" EXACT [] synonym: "Thurston syndrome" EXACT [] xref: MESH:C557819 xref: ORDO:2919 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060376 name: Joubert syndrome with orofaciodigital defect def: "A Joubert syndrome that is characterized by orofaciodigital defect. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23716954 "DO"] synonym: "CPLANE1-RELATED CONDITION" BROAD [] synonym: "OFD6" EXACT [] synonym: "OFDS VI" EXACT [] synonym: "oral-facial-digital syndrome, type 6" EXACT [] synonym: "Oral-Facial-Digital Syndrome, Type VI" EXACT [] synonym: "Orofaciodigital syndrome 6" EXACT [] synonym: "Orofaciodigital Syndrome VI" EXACT [] synonym: "Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation" EXACT [] synonym: "polydactyly, cleft lip palate, psychomotor retardation" EXACT [] synonym: "Varadi Papp syndrome" EXACT [] synonym: "Varadi syndrome" EXACT [] xref: GARD:4412 xref: MESH:C536531 xref: MIM:277170 xref: MONDO:0010176 xref: NCI:C124841 xref: ORDO:2754 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060377 name: orofaciodigital syndrome VII alt_id: MIM:608518 def: "An orofaciodigital syndrome that is characterized by oral, facial and digital abnormalities, and has_material_basis_in autosomal dominant inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14598343/ "DO"] synonym: "OFD7" EXACT [] synonym: "OFDS VII" EXACT [] synonym: "oral-facial-digital syndrome, type VII" EXACT [] synonym: "orofaciodigital syndrome 7" EXACT [] synonym: "Whelan syndrome" EXACT [] xref: MESH:C563104 xref: ORDO:90649 is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060378 name: orofaciodigital syndrome VIII alt_id: MIM:300484 def: "An orofaciodigital syndrome that is characterized by tongue lobulation, hypoplasia of the epiglottis, cleft lip, polydactyly, short stature and intellectual deficit, and has_material_basis_in X-linked recessive inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/4060/orofaciodigital-syndrome-8 "DO"] synonym: "OFD8" EXACT [] synonym: "OFDS 8" EXACT [] synonym: "OFDS VIII" EXACT [] synonym: "OFD syndrome 8" EXACT [] synonym: "oral-facial-digital syndrome 8" EXACT [] synonym: "oral-facial-digital syndrome, Edwards type" EXACT [] synonym: "oral-facial-digital syndrome type 8" EXACT [] synonym: "oral-facial-digital syndrome with hypoplastic epiglottis" EXACT [] synonym: "orofaciodigital syndrome 8" EXACT [] synonym: "orofaciodigital syndrome, Edwards type" EXACT [] xref: GARD:4060 xref: MESH:C557820 xref: ORDO:2755 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060379 name: acrofacial dysostosis def: "A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. (DO)" [https://rarediseases.info.nih.gov/diseases/498/nager-acrofacial-dysostosis "DO"] is_a: DOID:1934 ! dysostosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060380 name: orofaciodigital syndrome X alt_id: MIM:165590 def: "An orofaciodigital syndrome that is characterized by facial, oral and digital deformities as well as radial shortening, fibular agenesis and coalescence of tarsal bones. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8261648/ "DO"] synonym: "OFD10" EXACT [] synonym: "oral-facial-digital syndrome, type X" EXACT [] synonym: "Oral-Facial-Digital Syndrome with Fibular Aplasia" EXACT [] synonym: "orofaciodigital syndrome 10" EXACT [] synonym: "orofaciodigital syndrome with fibular aplasia" EXACT [] xref: MESH:C563491 xref: ORDO:2756 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060381 name: orofaciodigital syndrome XI alt_id: MIM:612913 def: "An orofaciodigital syndrome that is characterized by blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures, low set ears, skeletal malformations, intellectual deficits, deafness and congenital heart defects. (DO)" [https://rarediseases.info.nih.gov/diseases/4118/orofaciodigital-syndrome-11 "DO"] synonym: "Gabrielli syndrome" EXACT [] synonym: "OFD11" EXACT [] synonym: "OFDS XI" EXACT [] synonym: "oral-facial-digital syndrome 11" EXACT [] synonym: "Oral-Facial-Digital Syndrome, Type XI" EXACT [] synonym: "Oral-Facial-Digital Syndrome with Skeletal Anomalies" EXACT [] synonym: "orofaciodigital syndrome 11" EXACT [] xref: MESH:C557821 xref: ORDO:141000 is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0060382 name: orofaciodigital syndrome IX alt_id: MIM:258865 def: "An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus, bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/10520/orofaciodigital-syndrome-9 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18000902 "DO"] synonym: "OFD9" EXACT [] synonym: "OFDS IX" EXACT [] synonym: "oral-facial-digital syndrome 9" EXACT [] synonym: "oral facial digital syndrome, type IX" EXACT [] synonym: "oral-facial-digital syndrome with retinal abnormalities" EXACT [] synonym: "orofaciodigital syndrome 9" EXACT [] synonym: "orofaciodigital syndrome, type 9" EXACT [] synonym: "orofaciodigital syndrome with retinal abnormalities" EXACT [] xref: GARD:10520 xref: MESH:C557818 xref: ORDO:141007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060383 name: acrofacial dysostosis Rodriguez type alt_id: MIM:201170 alt_id: RDO:0004126 def: "An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. (DO)" [https://rarediseases.info.nih.gov/diseases/496/acrofacial-dysostosis-rodriguez-type "DO"] synonym: "Acrofacial Dysostosis Syndrome Of Rodriguez" EXACT [] synonym: "Rodriguez lethal acrofacial dysostosis syndrome" EXACT [] xref: GARD:496 xref: MESH:C538183 xref: ORDO:1788 is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060384 name: acrofacial dysostosis, Catania type alt_id: MIM:101805 alt_id: RDO:0004125 def: "An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. (DO)" [https://rarediseases.info.nih.gov/diseases/494/acrofacial-dysostosis-catania-type "DO"] synonym: "Acrofacial Dysostosis Catania Form" EXACT [] synonym: "Opitz-Caltabiano syndrome" EXACT [] synonym: "Opitz Mollica Sorge syndrome" EXACT [] xref: GARD:494 xref: MESH:C538182 xref: ORDO:1786 is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9007917 ! Supernumerary Tooth is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060385 name: acrofacial dysostosis, Patagonia type alt_id: MIM:601829 alt_id: RDO:0004128 def: "An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9098488/ "DO"] synonym: "Palagonia type of acrofacial dysostosis" EXACT [] xref: MESH:C538185 xref: ORDO:1787 is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007917 ! Supernumerary Tooth is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0060386 name: Chilblain lupus def: "A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene. (DO)" [https://www.omim.org/entry/610448 "DO"] synonym: "CHILBLAIN LUPUS ERYTHEMATOSUS" EXACT [] xref: MIM:PS610448 xref: ORDO:90280 is_a: DOID:0050169 ! cutaneous lupus erythematosus created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0060387 name: chondrodysplasia Blomstrand type alt_id: MIM:215045 def: "An osteochondrodysplasia that is characterized by rapid endochondral bone maturation, short limbs, dwarfism and prenatal lethality, has_material_basis_in autosomal recessive inheritance of mutation in the PTH1R gene. (DO)" [https://rarediseases.info.nih.gov/diseases/914/chondrodysplasia-blomstrand-type "DO"] synonym: "Blomstrand lethal chondrodysplasia" EXACT [] synonym: "Blomstrand lethal osteochondrodysplasia" EXACT [] synonym: "Blomstrand osteochondrodysplasia" EXACT [] synonym: "Blomstrand syndrome" EXACT [] synonym: "BOCD" EXACT [] synonym: "lethal congenital dwarfism with accelerated skeletal maturation" EXACT [] xref: GARD:914 xref: MESH:C537914 xref: NCI:C131420 xref: ORDO:50945 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0060388 name: chromosomal deletion syndrome def: "A chromosomal disease that has_material_basis_in partial deletion of chromosomes. (DO)" [https://en.wikipedia.org/wiki/Chromosomal_deletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome "DO", https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK23758/ "DO"] synonym: "chromosome deletion syndrome" EXACT [] is_a: DOID:225 ! syndrome is_a: DOID:9008165 ! Chromosome Deletion created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060389 name: chromosome 10q23 deletion syndrome alt_id: MIM:612242 def: "A chromosomal deletion syndrome that is characterized by dysmorphic facies, developmental delay and multiple congenital abnormalities and huvenile polyposis, has_material_basis_in recurrent deletions of chromosome 10q22.3-q23.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21248748 "DO"] xref: MESH:C567385 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9001441 ! Adenomatous Polyps [Term] id: DOID:0060390 name: distal 10q deletion syndrome alt_id: MIM:609625 alt_id: RDO:0015324 def: "A chromosomal deletion syndrome that is characterized by developmental delay, intellectual disability, behavioral problems and facial facies caused by a missing copy of the long arm of chromosome 10. (DO)" [https://rarediseases.info.nih.gov/diseases/3711/chromosome-10q-deletion "DO"] synonym: "chromosome 10q26 deletion syndrome" EXACT [] synonym: "distal monosomy 10q" EXACT [] synonym: "monosomy 10qter" EXACT [] synonym: "telomeric deletion 10q" EXACT [] synonym: "Terminal Chromosome 10q26 Deletion Syndrome" EXACT [] xref: MESH:C567182 xref: ORDO:96148 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:8927 ! learning disability is_a: DOID:9001487 ! Facies [Term] id: DOID:0060391 name: chromosome 13q14 deletion syndrome def: "A chromosomal deletion syndrome that is characterized by low birth weight, dysmorphic facies, limb defects, genital malformations and psychomotor developmental delay, has_material_basis_in deletion of the long arm of chromosome 13. (DO)" [https://rarediseases.org/rare-diseases/chromosome-13-partial-monosomy-13q/ "DO"] synonym: "deletion 13q14" EXACT [] xref: MIM:613884 xref: ORDO:1587 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:768 ! retinoblastoma is_a: DOID:9007657 ! Chromosome 13q Deletion Syndrome is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060392 name: chromosome 14q11-q22 deletion syndrome def: "A chromosomal deletion syndrome that is characterized by microcephaly, dysmorphic facies, psychomotor delay and failure to thrive, has_material_basis_in isolated cases of partial deletion of the long arm of chromosome 14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21744488 "DO"] synonym: "14q11.2 microdeletion syndrome" EXACT [] synonym: "Zahir-Friedman syndrome" EXACT [] xref: MIM:613457 xref: ORDO:261120 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060393 name: chromosome 15q11.2 deletion syndrome alt_id: MIM:615656 def: "A chromosomal deletion syndrome that is characterized by intellectual disbaility, dysmorphic facies, psychiatric illness and autism spectrum disorder, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)" [https://www.omim.org/entry/615656 "DO"] synonym: "15q11.2 microdeletion" EXACT [] synonym: "15q11.2 microdeletion syndrome" EXACT [] synonym: "chromosome 15q11-q13 duplication syndrome" EXACT [] synonym: "duplication 15q11-q13 syndrome" EXACT [] xref: MESH:C557830 xref: ORDO:261183 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0060394 name: chromosome 15q13.3 microdeletion syndrome alt_id: MIM:612001 def: "A chromosomal deletion syndrome that is characterized by intellectual dsability, developmental delay, autism spectrum disorder and seizure, has_material_basis_in autosomal dominant inheritance of partial deletion of the long arm of chromosome 15. (DO)" [https://rarediseases.info.nih.gov/diseases/10296/15q133-microdeletion-syndrome "DO"] synonym: "15q13.3 microdeletion" EXACT [] synonym: "15q13.3 microdeletion syndrome" EXACT [] synonym: "chromosome 15q13.3 deletion syndrome" EXACT [] xref: GARD:10296 xref: MESH:C567439 xref: ORDO:199318 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy [Term] id: DOID:0060395 name: chromosome 15q24 deletion syndrome alt_id: MIM:613406 def: "A chromosomal deletion syndrome that is characterized by dysmorphic facial features, intellectual disability and seizure, has_material_basis_in autosomal dominant inheritance of mutation in the SIN3A gene causing partial deletion of the long arm of chromosome 15. (DO)" [https://www.omim.org/entry/613406 "DO"] synonym: "15q24 deletion" EXACT [] synonym: "15q24 microdeletion" EXACT [] synonym: "15q24 microdeletion syndrome" EXACT [] synonym: "interstitial deletion of chromosome 15q24" EXACT [] synonym: "SIN3A-RELATED CONDITION" EXACT [] synonym: "SIN3A-RELATED INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "WITKOS" EXACT [] synonym: "Witteveen-Kolk syndrome" EXACT [] xref: GARD:12219 xref: MESH:C579849 xref: ORDO:94065 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0060396 name: chromosome 15q25 deletion syndrome def: "A chromosomal deletion syndrome that is characterized by intellectual disability and developmental delay, has_material_basis_in partial deletion of the long arm of chromosome 15. (DO)" [https://rarediseases.info.nih.gov/diseases/10990/chromosome-15q252-microdeletion "DO"] xref: MIM:614294 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060397 name: chromosome 15q26-qter deletion syndrome alt_id: MIM:612626 def: "A chromosomal deletion syndrome that is characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, brachy-clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits and mild craniofacial dysmorphism including microcephaly, triangular face, broad nasal bridge and micrognathia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18651844 "DO"] synonym: "15q26 deletion syndrome" EXACT [] synonym: "distal 15q deletion syndrome" EXACT [] synonym: "distal monosomy 15q" EXACT [] synonym: "Drayer Syndrome" EXACT [] synonym: "telomeric 15q deletion syndrome" EXACT [] xref: MESH:C567232 xref: ORDO:1596 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060398 name: chromosome 16p11.2 deletion syndrome, 220-kb def: "A chromosomal deletion syndrome that is characterized by developmental delay, mild intellectual disability and autism spectrum disorder and that has_material_basis_in a partial deletion of the short arm of chromosome 16, specifically a deletion of a 220-kb region on chromosome 16p11.2 (chr16:28.73-28.95 Mb) encompassing approximately 9 genes, including the SH2B1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20808231 "DO"] synonym: "chromosome 16p11.2 deletion syndrome" EXACT [] synonym: "distal 16p11.2 microdeletion syndrome" EXACT [] xref: MIM:613444 xref: NCI:C120408 xref: ORDO:261222 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060399 name: chromosome 16p12.1 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a 520 kb deletion on the short (p) arm of the chromosome at a location designated 16p12.1 and is characterized by developmental delay, craniofacial dysmorphology, and congenital heart defects. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20154674 "DO"] synonym: "chromosome 16p12.1 deletion syndrome, 520kb" EXACT [] xref: MIM:136570 xref: NCI:C129875 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060400 name: chromosome 16p12.2-p11.2 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 16p12.2-p11.2 deletion and that is characterized by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19449418 "DO"] synonym: "16p11.2-p12.2 microdeletion syndrome" EXACT [] synonym: "16p11.2p12.2 microdeletion syndrome" EXACT [] xref: MIM:613604 xref: ORDO:261211 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060401 name: chromosome 16q22 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in an interstitial 16q22 deletion that is characterized by a failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, broad nasal bridge, hypertelorism, low-set abnormal ears, and short neck. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1605249 "DO"] xref: MIM:614541 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060402 name: chromosome 17p13.1 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17p13.1 deletion and that is characterized by mild global developmental delay/intellectual disability with poor to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with knee and elbow flexion and hands held in a midline. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19617690 "DO"] xref: GARD:10996 xref: MIM:613776 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:92 ! speech disorder [Term] id: DOID:0060403 name: chromosome 17q11.2 deletion syndrome alt_id: MIM:613675 alt_id: MIM:614192 def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion on 17q11.2 that includes the NF1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10631140/ "DO"] synonym: "17q11 microdeletion syndrome" EXACT [] synonym: "chromosome 17q11.2 deletion syndrome, 1.4Mb" EXACT [] synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome" EXACT [] synonym: "macrocephaly, macrosomia, facial dysmorphism syndrome" EXACT [] synonym: "MMFD" EXACT [] synonym: "neurofibromatosis type 1 microdeletion syndrome" EXACT [] synonym: "NF1 microdeletion syndrome" EXACT [] synonym: "Van Asperen syndrome" EXACT [] xref: ICD10CM:Q85.0 xref: MESH:C563524 xref: ORDO:97685 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:8712 ! neurofibromatosis is_a: DOID:8927 ! learning disability is_a: DOID:9001487 ! Facies is_a: DOID:9002427 ! Fetal Macrosomia is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060404 name: chromosome 17q12 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q12 deletion and that is characterized by renal cystic disease, maturity onset diabetes of the young type 5, cognitive impairment, developmental delay (particularly of speech), autistic traits and autism spectrum disorder. (DO)" [https://ghr.nlm.nih.gov/condition/17q12-deletion-syndrome "DO"] synonym: "17q12 microdeletion syndrome" EXACT [] xref: GARD:13297 xref: MIM:614527 xref: ORDO:261265 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2015-11-10T00:00:00Z [Term] id: DOID:0060405 name: chromosome 17q23.1-q23.2 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 17q23.1-q23.2 deletion and that is characterized by characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20598276 "DO"] synonym: "17q23.1-q23.2 microdeletion syndrome" EXACT [] synonym: "17q23.1q23.2 microdeletion syndrome" EXACT [] xref: GARD:10936 xref: MIM:613355 xref: ORDO:261279 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060406 name: chromosome 18p deletion syndrome alt_id: MIM:146390 def: "A chromosomal deletion syndrome that has_material_basis_in partial or complete deletion of the short arm of chromosome 18. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16691587 "DO"] synonym: "18p deletion syndrome" EXACT [] synonym: "18p minus syndrome" EXACT [] synonym: "18p- syndrome" EXACT [] synonym: "De Grouchy syndrome" EXACT [] synonym: "Del(18p) syndrome" EXACT [] synonym: "monosomy 18p" EXACT [] xref: GARD:8631 xref: MESH:C538309 xref: NCI:C84521 xref: ORDO:1598 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060407 name: chromosome 18q deletion syndrome alt_id: MIM:601808 def: "A chromosomal deletion syndrome that has_material_basis_in a terminal deficiency or macrodeletion that is characterized by mental retardation and congenital malformations. (DO)" [https://ghr.nlm.nih.gov/condition/distal-18q-deletion-syndrome "DO", https://ghr.nlm.nih.gov/condition/proximal-18q-deletion-syndrome "DO"] synonym: "18q syndrome" EXACT [] synonym: "chromosome 18, monosomy 18Q" EXACT [] synonym: "chromosome 18q syndrome" EXACT [] synonym: "deletion 18q" EXACT [] synonym: "monosomy 18q" EXACT [] synonym: "monosomy 18q, deletion 18q" EXACT [] synonym: "monosomy 18q syndrome" EXACT [] xref: MESH:C536580 xref: ORDO:1600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060408 name: chromosome 19q13.11 deletion syndrome alt_id: MIM:613026 def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19q13.11 deletion and that is characterized by characterized by poor overall growth, slender habitus, microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24243649 "DO"] synonym: "19q13.11 microdeletion syndrome" EXACT [] synonym: "chromosome 19q13.11 deletion syndrome, distal" EXACT [] synonym: "monosomy 19q13.11" EXACT [] xref: GARD:10592 xref: MESH:C567810 xref: ORDO:217346 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060409 name: NFIA-related disorder def: "A syndrome that has_material_basis_in heterozygous mutation in the NFIA gene on chromosome 1p31 and that is characterized by macrocephaly, seizures, developmental delay, dysmorphic features, ventriculomegaly, and hypotonia. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK542336/ "DO"] synonym: "1p31p32 microdeletion syndrome" RELATED [] synonym: "brain malformations with or without urinary tract defects" EXACT [] synonym: "BRMUTD" EXACT [] synonym: "chromosome 1p32-p31 deletion syndrome" RELATED [] synonym: "NFIA-RELATED CONDITION" EXACT [] xref: MIM:613735 xref: ORDO:401986 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9008657 ! Urinary Tract Abnormalities [Term] id: DOID:0060410 name: chromosome 1p36 deletion syndrome alt_id: MIM:607872 def: "A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears. (DO)" [https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome "DO"] synonym: "1p36.33 deletion" EXACT [] synonym: "1p36 deletion syndrome" EXACT [] synonym: "chromosome 1, 1p36 deletion syndrome" EXACT [] synonym: "chromosome 1p36 deletion syndrome, distal" EXACT [] synonym: "deletion 1p36" EXACT [] synonym: "monosomy 1p36" EXACT [] synonym: "monosomy 1p36 syndrome" EXACT [] synonym: "subtelomeric 1p36 deletion" RELATED [] xref: GARD:6082 xref: MESH:C535362 xref: NCI:C74983 xref: ORDO:1606 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060411 name: chromosome 1q21.1 deletion syndrome alt_id: MIM:612474 def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous deletion of the 1q21.1 region on chromosome 1 and is characterized by an increases the risk of delayed development, intellectual disability, physical abnormalities, and neurological and psychiatric problems. (DO)" [https://ghr.nlm.nih.gov/condition/1q211-microdeletion "DO"] synonym: "1q21.1 contiguous gene deletion" EXACT [] synonym: "1q21.1 Deletion" EXACT [] synonym: "1q21.1 Microdeletion" EXACT [] synonym: "1q21.1 microdeletion syndrome" EXACT [] synonym: "chromosome 1q21.1 deletion syndrome, 1.35-Mb" EXACT [] synonym: "monosomy 1q21.1" RELATED [] xref: GARD:10813 xref: MESH:C567291 xref: ORDO:250989 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060412 name: chromosome 1q41-q42 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 1q41-q42 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736036/ "DO"] synonym: "1q41-q42 microdeletion syndrome" EXACT [] synonym: "1q41q42 microdeletion syndrome" EXACT [] xref: GARD:3738 xref: MIM:612530 xref: MONDO:0012927 xref: ORDO:250999 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:4621 ! holoprosencephaly created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060413 name: chromosome 22q11.2 deletion syndrome, distal alt_id: MIM:611867 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 22q11.2 region, distinct from DiGeorge syndrome and velocardiofacial syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18179902/ "DO", https://research.nhgri.nih.gov/atlas/condition/22q11-2-deletion-syndrome "DO"] synonym: "DiGeorge syndrome and Velocardiofacial syndrome" EXACT [] synonym: "distal 22q11.2 microdeletion syndrome" EXACT [] xref: MESH:C567511 xref: ORDO:261330 is_a: DOID:9001460 ! 22q11 Deletion Syndrome [Term] id: DOID:0060414 name: chromosome 2p12-p11.2 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p12-p11.2 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19764038/ "DO"] xref: MIM:613564 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060415 name: chromosome 2p16.1-p15 deletion syndrome alt_id: MIM:612513 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2p16.1-p15 region that is characterized by delayed psychomotor development, intellectual disability, and variable but distinctive dysmorphic features, including microcephaly, bitemporal narrowing, smooth and long philtrum, hypertelorism, downslanting palpebral fissures, broad nasal root, thin upper lip, and high palate. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26019277/ "DO"] synonym: "2p15-p16.1 microdeletion syndrome" EXACT [] synonym: "2p15p16.1 microdeletion syndrome" EXACT [] xref: GARD:13391 xref: ICD10CM:Q93.5 xref: MESH:C567289 xref: ORDO:261349 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060416 name: chromosome 2q31.2 deletion syndrome alt_id: MIM:612345 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 2q31.2 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19248183/ "DO"] xref: MESH:C567344 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060417 name: 3p deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a contiguous gene deletion syndrome involving chromosome 3pter-p25 and is characterized by low birth weight, microcephaly, trigonocephaly, hypotonia, psychomotor and growth retardation, ptosis, telecanthus, downslanting palpebral fissures, and micrognathia. (DO)" [https://ghr.nlm.nih.gov/condition/3p-deletion-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/19760623 "DO"] synonym: "3p- syndrome" EXACT [] synonym: "chromosome 3pter-P25 deletion syndrome" EXACT [] synonym: "distal monosomy 3p" EXACT [] xref: MIM:613792 xref: ORDO:1620 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0060418 name: chromosome 3q13.31 deletion syndrome alt_id: MIM:615433 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q13.31 region and that is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal male genitalia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22180640/ "DO"] synonym: "3q13 microdeletion syndrome" EXACT [] synonym: "chromosome 3, monosomy 3q13" EXACT [] synonym: "deletion 3q13" EXACT [] synonym: "monosomy 3q13" EXACT [] xref: MESH:C536808 xref: ORDO:1621 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060419 name: chromosome 3q29 microdeletion syndrome alt_id: MIM:609425 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 3q29 region. (DO)" [https://ghr.nlm.nih.gov/condition/3q29-microdeletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK385289/ "DO"] synonym: "3q29 recurrent deletion" EXACT [] synonym: "3q subtelomere deletion syndrome" EXACT [] synonym: "3qter deletion" EXACT [] synonym: "microdeletion 3q29 syndrome" EXACT [] xref: GARD:11974 xref: MESH:C567184 xref: ORDO:65286 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0060420 name: chromosome 4q21 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 4q21 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20522426/ "DO"] synonym: "4q21 microdeletion syndrome" EXACT [] synonym: "monosomy 4q21" EXACT [] xref: MIM:613509 xref: ORDO:238750 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060421 name: chromosome 5q12 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 5q12 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24203977/ "DO"] xref: MIM:615668 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060422 name: chromosome 6pter-p24 deletion syndrome alt_id: MIM:612582 def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6pter-p24 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18629875/ "DO"] synonym: "6p25 microdeletion syndrome" EXACT [] synonym: "6p subtelomeric deletion syndrome" EXACT [] synonym: "distal monosomy 6p" EXACT [] xref: MESH:C567239 xref: ORDO:96125 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1682 ! congenital heart disease is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060423 name: chromosome 6q11-q14 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q11-q14 region and that is characterize by hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract anomalies, as well as characteristic facial features including upslanting palpebral fissures, low-set and/or dysplastic ears, and high-arched palate. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19213033/ "DO"] xref: MIM:613544 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060424 name: chromosome 6q24-q25 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 6q24-q25 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17512813/ "DO"] synonym: "6q25 microdeletion syndrome" EXACT [] synonym: "monosomy 6q25" EXACT [] xref: MIM:612863 xref: ORDO:251056 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060425 name: chromosome 8q21.11 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome 8q21.11 region and that is characterized by intellectual disability and common facial dysmorphic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21802062/ "DO"] synonym: "8q21.11 microdeletion syndrome" EXACT [] xref: MIM:614230 xref: ORDO:284160 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9005401 ! Chromosome 8 Deletion is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060426 name: chromosome 19p13.13 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in a chromosome 19p13.13 deletion and that is characterized by an unusually large head size, tall stature, and intellectual disability that is usually moderate in severity. (DO)" [https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome "DO"] xref: MIM:613638 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060427 name: chromosome Xp21 deletion syndrome def: "A chromosomal deletion syndrome that has_material_basis_in deletion of the chromosome Xp21 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17089405/ "DO"] synonym: "complex glycerol kinase deficiency" EXACT [] synonym: "monosomy Xp21" EXACT [] synonym: "Xp21 microdeletion syndrome" EXACT [] xref: MIM:300679 xref: ORDO:261476 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060428 name: SATB2-associated syndrome def: "A syndrome that has_material_basis_in genetic changes that affect the SATB2 gene and that is characterized by mild to severe intellectual disability, a delayed or absent ability to speak, severe speech anomalies, abnormalities of the palate, teeth anomalies, behavioral issues with or without bone or brain anomalies, and onset before age 2. (DO)" [https://ghr.nlm.nih.gov/condition/satb2-associated-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK458647/ "DO"] synonym: "2q32-q33 microdeletion syndrome" EXACT [] synonym: "2q32q33 microdeletion syndrome" EXACT [] synonym: "chromosome 2q32-q33 deletion syndrome" EXACT [] synonym: "Glass" EXACT [] synonym: "Glass Syndrome" EXACT [] synonym: "monosomy 2q32" EXACT [] synonym: "monosomy 2q32-q33" EXACT [] synonym: "monosomy 2q32q33" EXACT [] synonym: "SATB2 ASSOCIATED DISORDER" EXACT [] synonym: "SATB2-RELATED CONDITION" EXACT [] synonym: "SATB2-related disorder" EXACT [] xref: MESH:C567350 xref: MIM:612313 xref: MONDO:0012864 xref: ORDO:251019 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060429 name: chromosomal duplication syndrome def: "A chromosomal disease that has_material_basis_in extra copies of a chromosomal region. (DO)" [https://www.nature.com/scitable/topicpage/dna-deletion-and-duplication-and-the-associated-331/ "DO"] synonym: "Chromosomal Duplication" EXACT [] synonym: "chromosomal duplications" EXACT [] synonym: "Chromosome Duplication" EXACT [] synonym: "chromosome duplications" EXACT [] xref: MESH:D058674 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:0060430 name: chromosome 16p11.2 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p11.2 region that is characterized by low weight, a small head size, and developmental delay, especially in speech and language. (DO)" [https://ghr.nlm.nih.gov/condition/16p112-duplication "DO"] synonym: "proximal 16p11.2 microduplication syndrome" EXACT [] synonym: "proximal dup(16)(p11.2)" EXACT [] synonym: "proximal trisomy 16p11.2" EXACT [] xref: GARD:12388 xref: MIM:614671 xref: MONDO:0013847 xref: ORDO:370079 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060431 name: chromosome 16p13.3 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 16p13.3 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19833603/ "DO"] synonym: "16p13.3 microduplication syndrome" EXACT [] synonym: "distal duplication 16p" EXACT [] synonym: "distal trisomy 16p" EXACT [] synonym: "telomeric duplication 16p" EXACT [] xref: MIM:613458 xref: ORDO:96078 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060432 name: chromosome 17p13.3 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in the PAFAH1B1 and/or the YWHAE gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19136950/ "DO"] synonym: "17p13.3 duplication syndrome" EXACT [] synonym: "17p13.3 microduplication syndrome" EXACT [] synonym: "chromosome 17p13.3 centromeric duplication syndrome" EXACT [] synonym: "trisomy 17p13.3" EXACT [] xref: MESH:C567705 xref: MIM:613215 xref: MONDO:0013182 xref: ORDO:217385 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0060433 name: chromosome 17q12 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q12 region. (DO)" [https://ghr.nlm.nih.gov/condition/17q12-duplication "DO", https://www.ncbi.nlm.nih.gov/books/NBK344340/ "DO"] synonym: "17q12 microduplication syndrome" EXACT [] synonym: "trisomy 17q12" EXACT [] xref: GARD:13296 xref: MIM:614526 xref: ORDO:261272 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060434 name: chromosome 17q21.31 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 17q21.31 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19502243/ "DO"] synonym: "17q21.31 microduplication syndrome" EXACT [] synonym: "trisomy 17q21.31" EXACT [] xref: ICD10CM:Q92.3 xref: MIM:613533 xref: ORDO:217340 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060435 name: chromosome 1q21.1 duplication syndrome alt_id: MIM:612475 def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 1q21.1 region. (DO)" [https://ghr.nlm.nih.gov/condition/1q211-microduplication "DO"] synonym: "1q21.1 microduplication syndrome" EXACT [] synonym: "trisomy 1q21.1" EXACT [] xref: GARD:10591 xref: MESH:C567290 xref: ORDO:250994 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0060436 name: chromosome 22q11.2 microduplication syndrome alt_id: MIM:608363 def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 22q11.2 region. (DO)" [https://ghr.nlm.nih.gov/condition/22q112-duplication "DO"] synonym: "22q11.2 duplication" EXACT [] synonym: "22q11.2 microduplication syndrome" EXACT [] synonym: "chromosome 22q11.2 duplication syndrome" EXACT [] synonym: "trisomy 22q11.2" EXACT [] xref: MESH:C567224 xref: ORDO:1727 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:11198 ! DiGeorge syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060437 name: chromosome 22q13 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in heterozygous interstitial duplication in chromosome 22q13 involving the SHANK3 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24153177/ "DO"] xref: MIM:615538 xref: MONDO:0014235 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060438 name: Cole-Carpenter syndrome def: "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10842295 "DO"] synonym: "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features" EXACT [] xref: MESH:C535963 xref: MIM:PS112240 xref: NCI:C130985 xref: ORDO:2050 is_a: DOID:10908 ! hydrocephalus is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060439 name: lysinuric protein intolerance alt_id: MIM:222700 def: "An amino acid metabolic disorder characterized by the body's inability to effectively break down lysine, arginine and ornithine and by renal hyperdiaminoaciduria, especially lysinuria, and by impaired formation of urea with hyperammonemia after protein ingestion. It has_material_basis_in homozygous or compound heterozygous mutation in the amino acid transporter gene SLC7A7 on chromosome 14q11. (DO)" [http://ghr.nlm.nih.gov/condition/lysinuric-protein-intolerance "DO", http://www.ncbi.nlm.nih.gov/books/NBK1361/ "DO", https://en.wikipedia.org/wiki/Lysinuric_protein_intolerance "DO", https://www.ncbi.nlm.nih.gov/pubmed/1155480 "DO"] synonym: "Dibasic Amino Aciduria II" EXACT [] synonym: "Hyperdibasic Aminoaciduria" EXACT [] synonym: "LPI" EXACT [] synonym: "LPI - Lysinuric Protein Intolerance" EXACT [] synonym: "SLC7A7-RELATED CONDITION" EXACT [] xref: GARD:3335 xref: MESH:C562687 xref: NCI:C121563 xref: ORDO:470 xref: RDO:0012291 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060440 name: epithelial and subepithelial dystrophy def: "A corneal dystrophy that primarily affects the corneal epithelium and its basement membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19236704 "DO"] xref: RDO:9004322 is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060441 name: epithelial-stromal TGFBI dystrophy def: "A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q. (DO)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO"] xref: RDO:9004323 is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060442 name: stromal dystrophy def: "A corneal dystrophy that affects the corneal stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19236704 "DO"] xref: RDO:9004324 is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060443 name: corneal endothelial dystrophy def: "A corneal dystrophy that affects the corneal endothelium and/or the descemet membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19236704 "DO"] synonym: "dystrophy of corneal endothelium" EXACT [] synonym: "endothelial dystrophy" EXACT [] is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060444 name: granular corneal dystrophy 2 alt_id: MIM:607541 def: "An corneal granular dystrophy that is characterized by recurrent erosions and stellate or thorn-like opacification located_in the cornea, hyaline and amyloid deposits in the stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene on chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased hyaline and amyloid protein deposition and disruption of the corneal surface. (DO)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO", https://www.omim.org/entry/607541 "DO"] synonym: "ACD" EXACT [] synonym: "Avellino corneal dystrophy" EXACT [] synonym: "CDA" EXACT [] synonym: "CGD2" EXACT [] synonym: "combined granular-lattice corneal dystrophies" EXACT [] synonym: "combined granular-lattice corneal dystrophy" EXACT [] synonym: "corneal dystrophy, Avellino type" EXACT [] synonym: "granular and lattice corneal dystrophies" EXACT [] synonym: "granular corneal dystrophy type 2" EXACT [] synonym: "granular corneal dystrophy type II" EXACT [] synonym: "granular-lattice (Avellino) corneal dystrophy" EXACT [] xref: EFO:0004882 xref: MESH:C535474 xref: MONDO:0011855 xref: ORDO:98963 is_a: DOID:12318 ! granular corneal dystrophy [Term] id: DOID:0060445 name: congenital stromal corneal dystrophy alt_id: MIM:610048 def: "A stromal dystrophy that is characterized by the presence of bilateral corneal opacities that can be seen at or shortly after birth. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-stromal-corneal-dystrophy "DO", https://www.ncbi.nlm.nih.gov/books/NBK2690/ "DO"] synonym: "congenital hereditary stromal dystrophy" EXACT [] synonym: "congenital hereditary stromal dystrophy of the cornea" EXACT [] synonym: "congenital stromal dystrophy of the cornea" EXACT [] synonym: "CSCD" EXACT [] synonym: "decorin-associated congenital stromal corneal dystrophy" EXACT [] synonym: "dystrophia corneae parenchymatosa congenita" EXACT [] xref: MESH:C566452 xref: ORDO:101068 is_a: DOID:0060442 ! stromal dystrophy is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0060446 name: X-linked endothelial corneal dystrophy alt_id: MIM:300779 def: "A corneal endothelial dystrophy that is characterized by congenital ground glass corneal clouding or a diffuse corneal haze, and blurred vision in male patients. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16490493/ "DO"] synonym: "XECD" EXACT [] xref: ICD10CM:H18.5 xref: MESH:C567587 xref: ORDO:293621 is_a: DOID:0060443 ! corneal endothelial dystrophy is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0060447 name: epithelial basement membrane dystrophy alt_id: MIM:121820 def: "An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16652336/ "DO"] synonym: "anterior basement membrane corneal dystrophy" EXACT [] synonym: "Cogan corneal dystrophy" EXACT [] synonym: "corneal dystrophy, Cogan type" EXACT [] synonym: "Corneal Dystrophy, Map-Dot-Fingerprint Type" EXACT [] synonym: "EBMD" EXACT [] synonym: "map-dot-fingerprint dystrophy of cornea" EXACT [] synonym: "microcystic corneal dystrophy" EXACT [] synonym: "microcystic dystrophy of the cornea" EXACT [] xref: MESH:C535477 xref: ORDO:98956 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060216 ! Cogan syndrome is_a: DOID:0060440 ! epithelial and subepithelial dystrophy [Term] id: DOID:0060448 name: Fleck corneal dystrophy alt_id: MIM:121850 def: "A stromal dystrophy that is characterized by numerous tiny, dot-like white flecks scattered in all layers of the corneal stroma and that has_material_basis_in heterozygous mutation in the PIKFYVE gene on chromosome 2q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23288988/ "DO", https://pubmed.ncbi.nlm.nih.gov/26396486 "DO"] synonym: "CFD" EXACT [] synonym: "FCD" EXACT [] synonym: "Francois-Neetens corneal dystrophy, speckled or flecked" EXACT [] synonym: "Francois-Neetens speckled corneal dystrophy" EXACT [] xref: MESH:C563256 xref: ORDO:98970 is_a: DOID:0060442 ! stromal dystrophy [Term] id: DOID:0060449 name: gelatinous drop-like corneal dystrophy alt_id: MIM:204870 def: "An epithelial and subepithelial dystrophy that is characterized by severe corneal amyloidosis leading to blindness and that has_material_basis_in homozygous or compound heterozygous mutation in the TACSTD2 gene which encodes the monoclonal antibody-defined, tumor-associated antigen GA733-1, on chromosome 1p32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10192395/ "DO"] synonym: "amyloid corneal dystrophy, Japanese type" EXACT [] synonym: "CDGDL" EXACT [] synonym: "Corneal amyloidosis" EXACT [] synonym: "GDCD" EXACT [] synonym: "GDLD" EXACT [] synonym: "lattice corneal dystrophy type3" EXACT [] synonym: "lattice corneal dystrophy, type 3" EXACT [] synonym: "lattice corneal dystrophy type III" EXACT [] synonym: "primary familial amyloidosis of the cornea" EXACT [] synonym: "subepithelial amyloidosis of the cornea" EXACT [] xref: MESH:C535480 xref: NCI:C142805 xref: ORDO:98957 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060440 ! epithelial and subepithelial dystrophy is_a: DOID:8943 ! lattice corneal dystrophy [Term] id: DOID:0060450 name: Lisch epithelial corneal dystrophy alt_id: MIM:620763 def: "An epithelial and subepithelial dystrophy that is characterized by bilateral or unilateral, gray, band-shaped, and feathery opacities that sometimes appeared in whorled patterns and that has_material_basis_in the MCOLN1 gene on Chr. 19. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11024418/ "DO", https://pubmed.ncbi.nlm.nih.gov/37972748/ "DO"] synonym: "band-shaped and whorled microcystic" RELATED [] synonym: "band-shaped and whorled microcystic corneal epithelial dystrophy" EXACT [] synonym: "LECD" EXACT [] xref: MESH:C567588 xref: ORDO:98955 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0060451 name: Meesmann corneal dystrophy def: "An epithelial and subepithelial dystrophy that is characterized by the formation of tiny round cysts in the corneal epithelium. (DO)" [https://ghr.nlm.nih.gov/condition/meesmann-corneal-dystrophy "DO"] synonym: "juvenile epithelial corneal dystrophy of Meesmann" EXACT [] synonym: "Juvenile Hereditary Epithelial Dystrophy" EXACT [] synonym: "MECD" EXACT [] synonym: "Meesman's corneal dystrophy" EXACT [] synonym: "Meesmann corneal dystrophies" EXACT [] synonym: "Meesmann corneal epithelial dystrophy" EXACT [] synonym: "Stocker-Holt dystrophy" EXACT [] xref: GARD:9688 xref: ICD10CM:H18.52 xref: ICD9CM:371.51 xref: MESH:D053559 xref: MIM:PS122100 xref: NCI:C84795 xref: ORDO:98954 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy [Term] id: DOID:0060452 name: posterior amorphous corneal dystrophy def: "A stromal dystrophy that is characterized by irregular sheetlike areas of opacification with involvement of the Descemet membrane and, in some instances, alterations of the normal endothelial mosaic and that has_material_basis_in a chromosome 12q21.33 contiguous gene deletion syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27096414/ "DO"] synonym: "chromosome 12q21.33 deletion syndrome" EXACT [] synonym: "PACD" EXACT [] xref: MESH:C567546 xref: MIM:612868 xref: MONDO:0013027 xref: ORDO:98971 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:0060442 ! stromal dystrophy [Term] id: DOID:0060453 name: Reis-Bucklers corneal dystrophy alt_id: MIM:608470 def: "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and irregular geographic opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)" [https://www.omim.org/entry/608470 "DO"] synonym: "anterior limiting membrane dystrophy type I" EXACT [] synonym: "CDB1" EXACT [] synonym: "CDRB" EXACT [] synonym: "corneal dystrophy of Bowman layer, type 1" EXACT [] synonym: "corneal dystrophy of Bowman layer, type I" EXACT [] synonym: "corneal dystrophy, Reis-Bucklers type" EXACT [] synonym: "geographic corneal dystrophy" EXACT [] synonym: "granular corneal dystrophy type III" EXACT [] synonym: "RBCD" EXACT [] synonym: "Reis-Bucklers dystrophy" EXACT [] xref: MESH:C535476 xref: ORDO:98961 is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy is_a: DOID:2566 ! corneal dystrophy [Term] id: DOID:0060454 name: subepithelial mucinous corneal dystrophy alt_id: MIM:612867 def: "An epithelial and subepithelial dystrophy that is characterized by frequent, recurrent corneal erosions in the first decade of life. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8352693/ "DO"] synonym: "SMCD" EXACT [] xref: MESH:C567547 xref: ORDO:98959 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy [Term] id: DOID:0060455 name: Thiel-Behnke corneal dystrophy alt_id: MIM:602082 def: "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and honeycomb-shaped opacification located_in the cornea, proteinaceous deposits in the anterior stroma and subepithelium, and progressive early vision loss, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption especially of Bowman's membrane of the cornea. (DO)" [https://www.omim.org/entry/602082 "DO"] synonym: "anterior limiting membrane dystrophy type II" EXACT [] synonym: "CDB2" EXACT [] synonym: "CDTB" EXACT [] synonym: "corneal dystrophy honeycomb-shaped" EXACT [] synonym: "corneal dystrophy of Bowman layer, type II" EXACT [] synonym: "corneal dystrophy of the Bowman layer, type 2" EXACT [] synonym: "corneal dystrophy, Thiel-Behnke type" EXACT [] synonym: "TBCD" EXACT [] synonym: "Waardenburg-Jonker corneal dystrophy" EXACT [] xref: MESH:C535942 xref: ORDO:98960 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy [Term] id: DOID:0060456 name: Schnyder corneal dystrophy alt_id: MIM:121800 def: "A stromal dystrophy that is characterized by abnormal deposition of cholesterol and phospholipids in the cornea and that has_material_basis_in heterozygous mutation in the UBAID1 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23169578/ "DO"] synonym: "corneal dystrophy crystalline of Schnyder" EXACT [] synonym: "crystalline stromal dystrophy" EXACT [] synonym: "hereditary crystalline stromal dystrophy of Schnyder" EXACT [] synonym: "SCCD" EXACT [] synonym: "Schnyder crystalline corneal dystrophy" EXACT [] xref: GARD:9277 xref: MESH:C535475 xref: ORDO:98967 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060442 ! stromal dystrophy [Term] id: DOID:0060457 name: posterior polymorphous corneal dystrophy def: "A corneal dystrophy that is characterized by changes in Descemet's membrane and endothelial layer. (DO)" [https://en.wikipedia.org/wiki/Posterior_polymorphous_corneal_dystrophy "DO"] synonym: "hereditary polymorphus posterior corneal dystrophy" EXACT [] synonym: "PPCD" EXACT [] synonym: "Schlichting dystrophy" EXACT [] xref: MIM:PS122000 xref: ORDO:98973 is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060458 name: chromosome 2q31.1 duplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 2q31.1 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20577005/ "DO"] xref: MIM:613681 xref: MONDO:0013363 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:0060459 name: chromosome 3q29 microduplication syndrome def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 3q29 region. (DO)" [https://ghr.nlm.nih.gov/condition/3q29-microduplication-syndrome "DO"] synonym: "3q29 microduplication" EXACT [] synonym: "chromosome 3q29 duplication syndrome" EXACT [] synonym: "microduplication 3q29 syndrome" EXACT [] synonym: "trisomy 3q29" EXACT [] xref: GARD:10360 xref: MESH:C567626 xref: MIM:611936 xref: ORDO:251038 is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:0060460 name: chromosome 5p13 duplication syndrome alt_id: MIM:613174 def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome 5p13 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19052029/ "DO"] synonym: "5p13 microduplication syndrome" EXACT [] synonym: "trisomy 5p13" EXACT [] xref: MESH:C567717 xref: ORDO:329802 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060461 name: chromosome Xp11.23-p11.22 duplication syndrome alt_id: MIM:300801 def: "A chromosomal duplication syndrome that has_material_basis_in duplication of the chromosome Xp11.23-p11.22 region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19716111/ "DO"] synonym: "microduplication Xp11.22-p11.23 syndrome" EXACT [] synonym: "trisomy Xp11.22-p11.23" EXACT [] xref: ICD10CM:Q99.8 xref: MESH:C567585 xref: ORDO:217377 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0060462 name: Desbuquois dysplasia def: "An osteochondrodysplasia characterized by short stature, joint laxity, scoliosis, and advanced carpal ossification with a delta phalanx. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19853239 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21037275 "DO"] synonym: "Desbuquois dysplasia, Kim variant" NARROW [] synonym: "Desbuquois Syndrome" EXACT [] synonym: "micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification" EXACT [] xref: GARD:1818 xref: MESH:C535943 xref: MIM:PS251450 xref: NCI:C124056 xref: ORDO:1425 is_a: DOID:1148 ! polydactyly is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9003295 ! Heterotopic Ossification is_a: DOID:9005077 ! Joint Instability is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060463 name: NUT midline carcinoma def: "A carcinoma that is characterized by a BRD4-NUT translocation involving the rearrangement of the bromodomain-containing protein 4 (BRD4) and the gene encoding nuclear protein of the testis (NUT) at 15q14, BRD4-NUT t(15;19)(q14;q13.1) and arises from midline epithelial structures, most commonly the head, neck, and mediastinum. (DO)" [https://en.wikipedia.org/wiki/NUT_midline_carcinoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/21221870 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25685583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26378054 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26402248 "DO"] synonym: "EFO:0005783" EXACT [] synonym: "nuclear protein in testis midline carcinoma" EXACT [] xref: EFO:0005783 xref: NCI:C45716 xref: ORDO:443167 is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0060464 name: Feingold syndrome def: "A syndrome characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. (DO)" [http://ghr.nlm.nih.gov/condition/feingold-syndrome "DO", https://en.wikipedia.org/wiki/Feingold_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/14518066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16906565 "DO"] synonym: "Brunner Winter syndrome" EXACT [] synonym: "digital anomalies with short palpebral fissures and atresia of esophagus or duodenum" EXACT [] synonym: "FGLDS" EXACT [] synonym: "microcephaly and digital abnormalities with normal intelligence" EXACT [] synonym: "microcephaly-digital anomalies-normal intelligence syndrome" EXACT [] synonym: "Microcephaly, Mental Retardation, and Tracheoesophageal Fistula Syndrome" EXACT [] synonym: "Microcephaly-Mesobrachyphalangy-Tracheoesophageal Fistula (MMT) Syndrome" EXACT [] synonym: "Microcephaly-Oculo-Digito-Esophageal-Duodenal (MODED) Syndrome" EXACT [] synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome" EXACT [] synonym: "MMT syndrome" EXACT [] synonym: "MODED" EXACT [] synonym: "MODED syndrome" EXACT [] synonym: "oculo-digito-esophageal-duodenal syndrome" EXACT [] synonym: "oculodigitoesophagoduodenal syndrome" EXACT [] synonym: "oculo-digito-esophagoduodental (ODED) syndrome" EXACT [] synonym: "ODED" EXACT [] synonym: "ODED syndrome" EXACT [] xref: GARD:8407 xref: MESH:C537734 xref: MIM:PS164280 xref: ORDO:1305 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008498 ! Tracheoesophageal Fistula [Term] id: DOID:0060465 name: fibrochondrogenesis def: "An osteochondrodysplasia that is characterized by shortened long bones in the arms and legs that are unusually wide at the ends, flattened vertebrae with a characteristic pinched or pear shape, and a very narrow chest in infants with short, wide ribs and a round and prominent abdomen. (DO)" [https://ghr.nlm.nih.gov/condition/fibrochondrogenesis "DO"] xref: GARD:2321 xref: MESH:C562524 xref: MIM:PS228520 xref: ORDO:2021 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0060466 name: gingival fibromatosis def: "A gingival overgrowth characterized by benign, slowly progressive, nonhemorrhagic, fibrous enlargement of the oral masticatory mucosa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11868160 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17385395 "DO"] synonym: "fibromatosis gingivae" EXACT [] synonym: "gingival fibromatoses" EXACT [] synonym: "hereditary gingival fibromatosis" EXACT [] synonym: "hereditary gingival hyperplasia" EXACT [] xref: MESH:D005351 xref: MIM:PS135300 xref: ORDO:2024 is_a: DOID:3086 ! gingival overgrowth is_a: DOID:9001018 ! Mouth Abnormalities [Term] id: DOID:0060467 name: humeroradial synostosis alt_id: MIM:143050 alt_id: MIM:236400 def: "A synostosis that is characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. (DO)" [https://rarediseases.info.nih.gov/diseases/2748/humeroradial-synostosis "DO"] synonym: "humero-radial fusion" EXACT [] synonym: "humero-radial synostosis" EXACT [] synonym: "Ramer Ladda syndrome" EXACT [] xref: GARD:2748 xref: MESH:C535284 xref: ORDO:3265 is_a: DOID:11971 ! synostosis [Term] id: DOID:0060468 name: Holt-Oram syndrome alt_id: MIM:142900 alt_id: MIM:314600 def: "A syndrome characterized by congenital anomalies located_in heart and located_in upper limb. (DO)" [http://ghr.nlm.nih.gov/condition/holt-oram-syndrome "DO", https://en.wikipedia.org/wiki/Holt-Oram_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12223419 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12436037 "DO"] synonym: "atriodigital dysplasia" EXACT [] synonym: "Atrio-Digital Syndrome" EXACT [] synonym: "Cardiac-Limb Syndrome" EXACT [] synonym: "Cervico-Oculo-Acoustic Syndrome" EXACT [] synonym: "CervicoOculoAcoustic Syndrome" EXACT [] synonym: "Heart-hand syndrome" EXACT [] synonym: "Heart-Hand Syndrome, Type 1" EXACT [] synonym: "HOS" EXACT [] synonym: "HOS1" EXACT [] synonym: "TBX5-RELATED CONDITION" EXACT [] synonym: "ventriculo-radial syndrome" EXACT [] synonym: "Wildervanck syndrome" EXACT [] xref: GARD:6666 xref: ICD10CM:Q87.2 xref: MESH:C535326 xref: NCI:C125592 xref: ORDO:392 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:225 ! syndrome is_a: DOID:9004402 ! Congenital Upper Extremity Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital [Term] id: DOID:0060469 name: Miller-Dieker lissencephaly syndrome alt_id: RDO:9004023 def: "A syndrome characterized by classical lissencephaly and distinct facial features and has_material_basis_in submicroscopic deletions of 17p13.3, including the LIS1 gene. (DO)" [http://ghr.nlm.nih.gov/condition/miller-dieker-syndrome "DO", https://en.wikipedia.org/wiki/Miller-Dieker_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21239872 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9473821 "DO"] synonym: "chromosome 17p13.3 deletion syndrome" EXACT [] synonym: "MDCR" EXACT [] synonym: "MDLS" EXACT [] synonym: "MDS" EXACT [] synonym: "MDS chromosome 17p13.3 deletion syndrome" EXACT [] synonym: "Miller-Dieker lissencephaly" EXACT [] synonym: "Miller-Dieker syndrome" EXACT [] synonym: "Miller-Dieker syndrome chromosome region" EXACT [] xref: ICD10CM:Q93.88 xref: MIM:247200 xref: NCI:C124852 xref: ORDO:531 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060470 name: salt and pepper syndrome alt_id: MIM:609056 def: "A syndrome characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation that has_material_basis_in homozygous or compound heterozygous mutation in the SIAT9 gene on chromosome 2p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24026681 "DO"] synonym: "Amish infantile epilepsy syndrome" EXACT [] synonym: "GM3 Synthase Deficiency" EXACT [] synonym: "INFANTILE EPILEPSY SYNDROME" EXACT [] synonym: "infantile-onset symptomatic epilepsy syndrome" EXACT [] synonym: "salt & pepper syndrome" EXACT [] synonym: "SALT AND PEPPER DEVELOPMENTAL REGRESSION SYNDROME" EXACT [] synonym: "salt and pepper mental retardation syndrome" EXACT [] synonym: "SPDRS" EXACT [] xref: MESH:C563799 xref: ORDO:370938 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome [Term] id: DOID:0060471 name: fetal valproate syndrome alt_id: MIM:609442 def: "A syndrome characterized by distinctive facial appearance, a cluster of minor and major anomalies and central nervous system dysfunction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17090909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25400349 "DO"] synonym: "fetal effects from dalpro" EXACT [] synonym: "fetal effects from epival" EXACT [] synonym: "fetal valproic acid syndrome" EXACT [] synonym: "fetal valproic syndrome" EXACT [] synonym: "foetal valproate syndrome" EXACT [] synonym: "foetal valproic acid syndrome" EXACT [] synonym: "Valproic Acid Antenatal Infection" EXACT [] synonym: "valproic acid embryopathy" EXACT [] xref: MESH:C536525 xref: NCI:C98930 xref: ORDO:1906 is_a: DOID:225 ! syndrome is_a: DOID:9007828 ! Abnormalities, Drug-Induced [Term] id: DOID:0060472 name: Kindler syndrome alt_id: MIM:173650 def: "A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling. (DO)" [https://en.wikipedia.org/wiki/Kindler_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12668616 "DO"] synonym: "Bullous acrokeratotic poikiloderma of kindler and weary" EXACT [] synonym: "Congenital bullous poikiloderma" EXACT [] synonym: "FERMT1-RELATED CONDITION" EXACT [] synonym: "hereditary acrokeratotic poikiloderma of Kindler-Weary" EXACT [] synonym: "Kindler's syndrome" EXACT [] synonym: "KNDLRS" EXACT [] synonym: "Poikiloderma, congenital, with bullae, weary type" EXACT [] synonym: "Poikiloderma, hereditary acrokeratotic" EXACT [] synonym: "poikiloderma of Kindler" EXACT [] xref: GARD:4391 xref: MESH:C536321 xref: ORDO:306539 is_a: DOID:2730 ! epidermolysis bullosa is_a: DOID:3159 ! photosensitivity disease is_a: DOID:3388 ! periodontal disease is_a: DOID:9008110 ! Blister [Term] id: DOID:0060473 name: Kabuki syndrome def: "A syndrome characterized by multiple congenital anomalies and mental retardation. Other characteristics include a peculiar facial gestalt, short stature, skeletal and visceral abnormalities, cardiac anomalies, and immunological defects. (DO)" [http://ghr.nlm.nih.gov/condition/kabuki-syndrome "DO", https://en.wikipedia.org/wiki/Kabuki_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25281733 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25972376 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26512256 "DO"] synonym: "Kabuki make up syndrome" EXACT [] synonym: "Kabuki makeup syndrome" EXACT [] synonym: "KMS" EXACT [] synonym: "Niikawa-Kuroki syndrome" EXACT [] xref: GARD:6810 xref: MESH:C537705 xref: MIM:PS147920 xref: MONDO:0016512 xref: NCI:C124837 xref: ORDO:2322 is_a: DOID:225 ! syndrome is_a: DOID:3426 ! vestibular disease is_a: DOID:74 ! hematopoietic system disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060474 name: familial erythrocytosis 2 alt_id: MIM:263400 def: "A primary polycythemia that has_material_basis_in homozygous or compound heterozygous mutation in the VHL gene (608537) on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15725900 "DO"] synonym: "autosomal recessive benign erythrocytosis" EXACT [] synonym: "Chuvash erythromatosis" EXACT [] synonym: "Chuvash polycythemia" EXACT [] synonym: "Chuvash type polycythemia" EXACT [] synonym: "ECYT2" EXACT [] synonym: "familial erythrocytosis 2, autosomal recessive" EXACT [] synonym: "polycythemia, VHL-dependent" EXACT [] xref: MESH:C563918 xref: ORDO:238557 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0060475 name: myoclonic-atonic epilepsy alt_id: DOID:9002731 def: "An idiopathic generalized epilepsy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis. Affected individuals have cognitive regression and intellectual disability and that has_material_basis_in heterozygous mutation in the SLC6A1 gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK589173/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23708187 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24207121 "DO"] synonym: "childhood onset epileptic encephalopathy" EXACT [] synonym: "early life seizures" EXACT [] synonym: "early onset epileptic encephalopathy" EXACT [] synonym: "EEOC" EXACT [] synonym: "ELS" EXACT [] synonym: "GENERALIZED MYOCLONIC-ATONIC SEIZURE" EXACT [] synonym: "IECEE" EXACT [] synonym: "infantile epileptic encephalopathy" NARROW [] synonym: "infantile or early childhood epileptic encephalopathy" EXACT [] synonym: "infantile spasm" NARROW [] synonym: "MAE" EXACT [] synonym: "myoclonic-atonic seizure" EXACT [] synonym: "SLC6A1-RELATED CONDITION" EXACT [] synonym: "SLC6A1-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "UNDETERMINED EARLY-ONSET EPILEPTIC ENCEPHALOPATHY" NARROW [] xref: MIM:616421 xref: NCI:C165674 xref: NCI:C172100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11832 ! visual epilepsy is_a: DOID:1827 ! idiopathic generalized epilepsy is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:0060476 name: Perlman syndrome alt_id: MIM:267000 def: "A syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome. (DO)" [https://en.wikipedia.org/wiki/Perlman_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18780370 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22306653 "DO"] synonym: "nephroblastomatosis, fetal ascites, macrosomia and Wilms tumor" EXACT [] synonym: "nephroblastomatosis - fetal ascites - macrosomia - Wilms tumor" EXACT [] synonym: "PREDISPOSITION TO WILMS TUMOR" NARROW [] synonym: "PRLMNS" EXACT [] synonym: "renal hamartomas, nephroblastomatosis, and fetal gigantism" EXACT [] xref: GARD:3936 xref: MESH:C536399 xref: NCI:C103144 xref: ORDO:2849 is_a: DOID:2154 ! nephroblastoma is_a: DOID:225 ! syndrome is_a: DOID:9002427 ! Fetal Macrosomia [Term] id: DOID:0060478 name: Zika fever def: "A viral infectious disease that has_material_basis_in Zika virus, which is transmitted_by Aedes aegypti mosquitoes and targets neural progenitor cells and neuronal cells in all stages of maturity and has_symptom fever, has_symptom rash, has_symptom headaches and has_symptom joint pain. (DO)" [http://ecdc.europa.eu/en/healthtopics/zika_virus_infection/factsheet-health-professionals/Pages/factsheet_health_professionals.aspx "DO", http://www.who.int/mediacentre/factsheets/zika/en/ "DO", https://en.wikipedia.org/wiki/Zika_fever "DO", https://www.cdc.gov/zika/about/ "DO"] synonym: "Zika virus disease" EXACT [] synonym: "Zika virus infection" EXACT [] xref: ICD10CM:A92.8 xref: MESH:D000071243 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9007579 ! Arbovirus Infections is_a: DOID:934 ! viral infectious disease [Term] id: DOID:0060479 name: Shwachman-Diamond syndrome alt_id: DOID:0080023 alt_id: MIM:260400 def: "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities. (DO)" [http://ghr.nlm.nih.gov/condition/shwachman-diamond-syndrome "DO", https://en.wikipedia.org/wiki/Shwachman-Diamond_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/18356737 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22201042 "DO"] synonym: "congenital lipomatosis of pancreas" EXACT [] synonym: "metaphyseal chondrodysplasia, Shwachman type" EXACT [] synonym: "pancreatic insufficiency and bone marrow dysfunction" EXACT [] synonym: "SDS" EXACT [] synonym: "SDS1" EXACT [] synonym: "Shwachman-Bodian-Diamond syndrome" EXACT [] synonym: "Shwachman-Bodian syndrome" EXACT [] synonym: "Shwachman-Diamond-Oski syndrome" EXACT [] synonym: "Shwachman-Diamond syndrome 1" EXACT [] synonym: "Shwachman-Diamond type metaphyseal dysplasia" EXACT [] synonym: "Shwachman syndrome" EXACT [] xref: GARD:4863 xref: MESH:D000081003 xref: MIM:PS260400 xref: NCI:C61235 is_a: DOID:0080019 ! metaphyseal dysplasia is_a: DOID:13316 ! exocrine pancreatic insufficiency is_a: DOID:3153 ! lipomatosis is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes [Term] id: DOID:0060480 name: left ventricular noncompaction def: "An intrinsic cardiomyopathy characterized by distinctive (spongy) morphological appearance of the LV myocardium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16567565 "DO"] synonym: "left ventricular hypertrabeculation" EXACT [] synonym: "LVNC" EXACT [] synonym: "ncCM" EXACT [] synonym: "non-compaction cardiomyopathy" EXACT [] xref: EFO:0002632 xref: EFO:0004686 xref: GARD:10985 xref: HP:0011664 xref: MIM:PS604169 xref: MONDO:0018901 xref: ORDO:54260 is_a: DOID:0060036 ! intrinsic cardiomyopathy is_a: DOID:9000596 ! Isolated Noncompaction of the Ventricular Myocardium [Term] id: DOID:0060481 name: Goldberg-Shprintzen syndrome alt_id: MIM:609460 def: "A syndrome characterized by intellectual disability, specific facial gestalt and Hirschsprung's disease and that has_material_basis_in homozygous mutation in the KIAA1279 gene on chromosome 10q21.1. (DO)" [https://en.wikipedia.org/wiki/Goldberg-Shprintzen_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15883926 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23427148 "DO"] synonym: "Goldberg-Shprintzen megacolon syndrome" EXACT [] synonym: "GOSHS" EXACT [] xref: GARD:9849 xref: MESH:C537279 xref: ORDO:66629 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060482 name: oculoauricular syndrome alt_id: MIM:612109 def: "A syndrome characterized by microcornea, microphthalmia, anterior-segment dysgenesis, cataract, coloboma of various parts of the eye, abnormalities of the retinal pigment epithelium, and rod-cone dystrophy and a particular cleft ear lobule. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18423520 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25574057 "DO"] synonym: "microphthalmia, microcornea, anterior segment dysgenesis, cataract, ocular coloboma, retinal pigment epithelium abnormalities, rod-cone dystrophy, and anomalies of the external ear" EXACT [] synonym: "OCACS" EXACT [] synonym: "SCHORDERET-MUNIER-FRANCESCHETTI SYNDROME" EXACT [] xref: MESH:C567416 xref: ORDO:157962 is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060483 name: MEDNIK syndrome alt_id: MIM:609313 def: "A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23423674 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24754424 "DO"] synonym: "EKV3" EXACT [] synonym: "erythrokeratodermia variabilis 3" EXACT [] synonym: "erythrokeratodermia variabilis, Kamouraska type" EXACT [] synonym: "impaired intellectual development, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" EXACT [] synonym: "MEDNIK" EXACT [] synonym: "mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia" EXACT [] synonym: "mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma" EXACT [] xref: MESH:C563739 xref: ORDO:171851 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:225 ! syndrome [Term] id: DOID:0060484 name: EAST syndrome alt_id: MIM:612780 alt_id: OMIA:002089 def: "A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19289823 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19420365 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23471908 "DO"] synonym: "cerebellar ataxia, KCNJ10-related" NARROW [] synonym: "epilepsy, ataxia, sensorineural deafness and tubulopathy" EXACT [] synonym: "KCNJ10-related disorder" BROAD [] synonym: "KCNJ10-related disorders" BROAD [] synonym: "seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance syndrome" EXACT [] synonym: "seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance" EXACT [] synonym: "SESAME-LIKE SYNDROME" RELATED [] synonym: "SESAMES" EXACT [] synonym: "SeSAME syndrome" EXACT [] xref: MESH:C557674 xref: ORDO:199343 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome [Term] id: DOID:0060485 name: Mowat-Wilson syndrome alt_id: MIM:235730 def: "A syndrome characterized by distinctive facial features, intellectual disability, delayed development, Hirschsprung disease and has_material_basis_in de novo heterozygous mutation in the ZEB2 gene on chromosome 2q22. (DO)" [https://research.nhgri.nih.gov/atlas/condition/mowat-wilson-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/17958891 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23466526 "DO"] synonym: "Hirschsprung disease mental retardation syndrome" EXACT [] synonym: "Hirschsprung disease-mental retardation syndrome, late infantile" NARROW [] synonym: "microcephaly, mental retardation, and distinct facial featrues, with or without Hirschprung disease" EXACT [] synonym: "microcephaly, mental retardation, and distinct facial features, with or without Hirschsprung disease" EXACT [] synonym: "MOWS" EXACT [] synonym: "ZEB2-RELATED CONDITION" EXACT [] xref: GARD:9673 xref: MESH:C536990 xref: NCI:C74999 xref: ORDO:2152 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies [Term] id: DOID:0060486 name: Perry syndrome alt_id: MIM:168605 def: "A syndrome characterized by parkinsonism, hypoventilation, depression, and weight loss and that has_material_basis_in heterozygous mutation in the DCTN1 gene on chromosome 2p13. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK47027/ "DO", https://ghr.nlm.nih.gov/condition/perry-syndrome "DO"] synonym: "parkinsonism with alveolar hypoventilation and mental depression" EXACT [] xref: GARD:10453 xref: MESH:C566822 xref: ORDO:178509 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080855 ! Parkinsonism is_a: DOID:225 ! syndrome is_a: DOID:9003671 ! Hypoventilation [Term] id: DOID:0060488 name: Pitt-Hopkins syndrome def: "A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures, and distinctive facial features and that has_material_basis_in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21. (DO)" [http://ghr.nlm.nih.gov/condition/pitt-hopkins-syndrome "DO", https://en.wikipedia.org/wiki/Pitt-Hopkins_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/17436255 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26621827 "DO", https://www.ncbi.nlm.nih.gov/pubmed/728011 "DO"] synonym: "Pitt-Hopkins-like syndrome" RELATED [] synonym: "PTHS" EXACT [] synonym: "severe epileptic encephalopathy, with autonomic dysfunction" EXACT [] synonym: "syndromal mental retardation, with intermittent hyperventilation" EXACT [] xref: GARD:4372 xref: MESH:C537403 xref: MIM:610954 xref: MONDO:0012589 xref: NCI:C129872 xref: ORDO:2896 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9006680 ! Hyperventilation [Term] id: DOID:0060490 name: Schimke immuno-osseous dysplasia alt_id: MIM:242900 def: "A spondyloepiphyseal dysplasia characterized by short stature with hyperpigmented macules, unusual facies, proteinuria with progressive renal failure, lymphopenia with recurrent infections, and cerebral ischaemia. It has_material_basis_in mutations in the SMARCAL1 gene. (DO)" [http://ghr.nlm.nih.gov/condition/schimke-immuno-osseous-dysplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1376/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10653321 "DO"] synonym: "immunoosseous dysplasia Schimke type" EXACT [] synonym: "Schimke immunoosseous dysplasia" EXACT [] synonym: "Schimke syndrome" EXACT [] synonym: "SIOD" EXACT [] synonym: "spondyloepiphyseal dysplasia - nephrotic syndrome" EXACT [] xref: GARD:4984 xref: MESH:C536629 xref: NCI:C135087 xref: ORDO:1830 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:2349 ! arteriosclerosis is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9477 ! pulmonary embolism [Term] id: DOID:0060491 name: SPOAN syndrome alt_id: MIM:609541 alt_id: RDO:0012893 def: "A neurodegenerative disease characterized by spastic paraplegia, axonal neuropathy, dysarthria, acoustic startle, and congenital optical atrophy and that has_material_basis_in homozygous mutation in the KLC2 gene on chromosome 11q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15852396 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26385635 "DO"] synonym: "spastic paraplegia, optic atrophy, and neuropathy" EXACT [] synonym: "spastic paraplegia, optic atrophy, and neuropathy syndrome" EXACT [] synonym: "spastic paraplegia, optic atropy, and neuropathy" EXACT [] synonym: "spastic paraplegia, optic atropy, and neuropathy syndrome" EXACT [] xref: MESH:C563702 xref: ORDO:320406 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:5723 ! optic atrophy is_a: DOID:607 ! paraplegia [Term] id: DOID:0060492 name: chicken egg allergy def: "An egg allergy triggered by Gallus gallus eggs. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5001 "DO", https://en.wikipedia.org/wiki/Egg_allergy "DO"] synonym: "Gallus gallus egg allergy" EXACT [] xref: RDO:9003473 is_a: DOID:4377 ! egg allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060495 name: shellfish allergy def: "A food allergy triggered by Crustacea or Mollusca. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30893087 "DO"] synonym: "shellfish allergies" EXACT [] synonym: "shellfish hypersensitivities" EXACT [] synonym: "shellfish hypersensitivity" EXACT [] xref: MESH:D000067208 is_a: DOID:3044 ! food allergy [Term] id: DOID:0060496 name: respiratory allergy def: "An allergic disease that is located_in the respiratory tract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25006500 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28187789 "DO"] synonym: "airway allergy" EXACT [] synonym: "airway hyper responsiveness" EXACT [] synonym: "allergic lung disease" RELATED [] synonym: "respiratory hypersensitivities" EXACT [] synonym: "respiratory hypersensitivity" EXACT [] xref: MESH:D012130 is_a: DOID:1205 ! allergic disease is_a: DOID:1579 ! respiratory system disease is_a: DOID:9002850 ! Immediate Hypersensitivity [Term] id: DOID:0060497 name: pollen allergy def: "A respiratory allergy triggered by pollen. (DO)" [https://acaai.org/allergies/types-allergies/pollen-allergy "DO", https://www.aafa.org/pollen-allergy/ "DO"] synonym: "pollen allergies" EXACT [] is_a: DOID:9008103 ! Seasonal Allergic Rhinitis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060498 name: Timothy grass allergy def: "A pollen allergy triggered by Phleum pratense pollen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25685162 "DO"] is_a: DOID:0060497 ! pollen allergy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060499 name: autoimmune neuropathy def: "An autoimmune disease of central nervous system caused by an autoimmune response. (DO)" [https://www.dukehealth.org/pediatric-treatments/autoimmune-brain-disorders "DO", https://www.ncbi.nlm.nih.gov/pubmed/28601415 "DO"] xref: RDO:9002713 is_a: DOID:0060004 ! autoimmune disease of central nervous system created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060500 name: drug allergy def: "An allergic disease that is triggered by a drug. (DO)" [https://www.mayoclinic.org/diseases-conditions/drug-allergy/symptoms-causes/syc-20371835 "DO"] synonym: "Drug Allergies" EXACT [] synonym: "Drug Hypersensitivities" EXACT [] synonym: "Drug Hypersensitivity" EXACT [] xref: EFO:0009482 xref: MESH:D004342 is_a: DOID:1205 ! allergic disease is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions [Term] id: DOID:0060501 name: metal allergy def: "An allergic disease that is triggered by a metal. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27228132 "DO"] is_a: DOID:1205 ! allergic disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060502 name: gastrointestinal allergy def: "An allergic disease that is located_in the gastrointestinal tract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18721321 "DO"] is_a: DOID:1205 ! allergic disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060503 name: fruit allergy def: "A food allergy triggered by a plant fruit product. (DO)" [https://en.wikipedia.org/wiki/Fruit_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/26022876 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO"] is_a: DOID:3044 ! food allergy [Term] id: DOID:0060504 name: apple allergy def: "A fruit allergy triggered by Malus domestica plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29130794 "DO"] synonym: "Malus domestica fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060505 name: apricot allergy def: "A fruit allergy triggered by Prunus armeniaca plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=410 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30611476 "DO"] synonym: "Prunus armeniaca fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060506 name: cherry allergy def: "A fruit allergy triggered by Prunus avium plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=19 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30093847 "DO"] synonym: "Prunus avium fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060507 name: Indian plum allergy def: "A fruit allergy triggered by Ziziphus mauritiana plant fruit food product. (DO)" [https://en.wikipedia.org/wiki/Fruit_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/14976388 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24696647 "DO"] synonym: "Ziziphus mauritiana fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060508 name: orange allergy def: "A fruit allergy triggered by Citrus sinensis plant fruit food product. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30099793 "DO"] synonym: "Citrus sinensis fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060509 name: melon allergy def: "A fruit allergy triggered by Cucumis melo plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=67 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549334 "DO"] synonym: "Cucumis melo fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060510 name: peach allergy def: "A fruit allergy triggered by Prunus persica plant fruit food product. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30672059 "DO"] synonym: "Prunus persica fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060511 name: plum allergy def: "A fruit allergy triggered by Prunus domestica plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=27 "DO"] synonym: "Prunus domestica fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060512 name: tomato allergy def: "A fruit allergy triggered by Solanum lycopersicum plant fruit food product. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=52 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12001794 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23653972 "DO"] synonym: "Solanum lycopersicum fruit allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060513 name: fish allergy def: "A food allergy triggered by fish. (DO)" [https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] is_a: DOID:3044 ! food allergy [Term] id: DOID:0060514 name: Atlantic cod allergy def: "A fish allergy triggered by Gadus morhua. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5005 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] synonym: "Gadus morhua fish allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060515 name: Atlantic salmon allergy def: "A fish allergy triggered by Salmo salar. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5022 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] synonym: "Salmo salar fish allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060516 name: carp allergy def: "A fish allergy triggered by Cyprinus carpio. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5018 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] synonym: "Cyprinus carpio fish allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060517 name: zebrafish allergy def: "A fish allergy triggered by Danio rerio. (DO)" [https://acaai.org/allergies/types/food-allergies/types-food-allergy/fish-allergy "DO"] synonym: "Danio rerio allergy" EXACT [] is_a: DOID:0060513 ! fish allergy [Term] id: DOID:0060518 name: rainbow trout allergy def: "A fish allergy triggered by Oncorhynchus mykiss. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24795722 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26111497 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30323632 "DO"] synonym: "Oncorhynchus mykiss allergy" EXACT [] is_a: DOID:0060513 ! fish allergy created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060519 name: beta-lactam allergy def: "A drug allergy triggered by a beta-lactam. (DO)" [https://en.wikipedia.org/wiki/%CE%92-lactam_antibiotic#Allergy/hypersensitivity "DO", https://www.hopkinsguides.com/hopkins/view/Johns_Hopkins_ABX_Guide/540622/all/Beta_lactam_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/31009700 "DO"] xref: RDO:9003962 is_a: DOID:0060500 ! drug allergy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060520 name: penicillin allergy def: "A beta-lactam allergy triggered by penicillin. (DO)" [https://en.wikipedia.org/wiki/Side_effects_of_penicillin#Allergies_and_cross_sensitivities "DO", https://www.mayoclinic.org/diseases-conditions/penicillin-allergy/symptoms-causes/syc-20376222 "DO"] is_a: DOID:0060519 ! beta-lactam allergy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060521 name: cow milk allergy def: "A milk allergy triggered by Bos taurus milk. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31083388 "DO"] synonym: "Bos taurus milk allergy" EXACT [] is_a: DOID:4376 ! milk allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060522 name: goat milk allergy def: "A milk allergy triggered by Capra hircus milk. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17002714 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24372684 "DO"] synonym: "Capra hircus milk allergy" EXACT [] is_a: DOID:4376 ! milk allergy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060523 name: mollusc allergy def: "A shellfish allergy triggered by Mollusca. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30893087 "DO"] is_a: DOID:0060495 ! shellfish allergy [Term] id: DOID:0060524 name: crustacean allergy def: "A shellfish allergy triggered by Crustacea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30893087 "DO"] is_a: DOID:0060495 ! shellfish allergy [Term] id: DOID:0060525 name: brown shrimp allergy def: "A crustacean allergy triggered by Farfantepenaeus aztecus. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5027 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"] synonym: "Farfantepenaeus aztecus allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060526 name: crab allergy def: "A crustacean allergy triggered by Scylla paramamosain. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25728640 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"] synonym: "green mud crab allergy" EXACT [] synonym: "Scylla paramamosain allergy" EXACT [] is_a: DOID:0060524 ! crustacean allergy [Term] id: DOID:0060527 name: Indian prawn allergy def: "A crustacean allergy triggered by Fenneropenaeus indicus. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5029 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"] synonym: "Fenneropenaeus indicus allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060528 name: tiger prawn allergy def: "A crustacean allergy triggered by Penaeus monodon. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5028 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22135598 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29178679 "DO"] synonym: "Penaeus monodon allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060529 name: white shrimp allergy def: "A crustacean allergy triggered by Litopenaeus vannamei. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20471069 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28027402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29858102 "DO"] synonym: "Litopenaeus vannamei allergy" EXACT [] is_a: DOID:0040001 ! shrimp allergy [Term] id: DOID:0060530 name: snail allergy def: "A mollusc allergy triggered by snails. (DO)" [http://research.bmh.manchester.ac.uk/informall/allergenic-food/index.aspx?FoodId=5010 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15591808 "DO"] is_a: DOID:0060523 ! mollusc allergy [Term] id: DOID:0060531 name: horned turban snail allergy def: "A snail allergy triggered by the horned turban snail. (DO)" [https://farrp.unl.edu/informallmollshellfish "DO"] synonym: "Turbo cornutus allergy" EXACT [] is_a: DOID:0060530 ! snail allergy [Term] id: DOID:0060532 name: latex allergy def: "An allergic disease that is triggered by latex. (DO)" [https://en.wikipedia.org/wiki/Latex_allergy "DO", https://www.ncbi.nlm.nih.gov/pubmed/27010091 "DO"] synonym: "latex allergies" EXACT [] synonym: "Latex Hypersensitivities" EXACT [] synonym: "Latex Hypersensitivity" EXACT [] synonym: "Natural Rubber Latex Allergy" EXACT [] synonym: "Rubber Allergies" EXACT [] synonym: "Rubber Allergy" EXACT [] synonym: "Rubber Latex Allergies" EXACT [] synonym: "rubber latex allergy" EXACT [] xref: MESH:D020315 is_a: DOID:1205 ! allergic disease [Term] id: DOID:0060534 name: hepatoid adenocarcinoma def: "An adenocarcinoma with morphologic characteristics similar to hepatocellular carcinoma, arising from an anatomic site other than the liver. (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "EFO:1000293" EXACT [] xref: EFO:1000293 xref: ICDO:8576/3 xref: NCI:C66950 xref: RDO:9001983 is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0060535 name: Warsaw breakage syndrome def: "A syndrome mainly characterized by severe congenital microcephaly, growth restriction, and sensorineural hearing loss due to cochlear hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the DDX11 gene on chromosome 12p11. (DO)" [https://ghr.nlm.nih.gov/condition/warsaw-breakage-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/20137776 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21490908 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23033317 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26089203 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31169992 "DO"] synonym: "WABS" EXACT [] xref: GARD:13708 xref: MIM:613398 xref: NCI:C164675 xref: ORDO:280558 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004203 ! Chromosome Breakage [Term] id: DOID:0060536 name: mitochondrial complex I deficiency def: "A mitochondrial metabolism disease characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome. It can have material basis in mutations in multiple different genes, both nuclear-encoded and mitochondrial-encoded. (DO)" [http://www.omim.org/entry/252010 "DO"] synonym: "deficiency of mitochondrial NADH dehydrogenase component of complex I" EXACT [] synonym: "isolated mitochondrial respiratory chain complex I deficiency" EXACT [] synonym: "isolated NADH-coenzyme Q reductase deficiency" EXACT [] synonym: "isolated NADH-CoQ reductase deficiency" EXACT [] synonym: "isolated NADH-ubiquinone reductase deficiency" EXACT [] synonym: "mitochondrial oxidative phosphorylation disorder" EXACT [] synonym: "NADH:Q(1) oxidoreductase deficiency" EXACT [] synonym: "NADH-coenzyme Q reductase deficiency" EXACT [] synonym: "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT" NARROW [] synonym: "NEUROPSYCHIATRIC DISORDER AND EARLY-ONSET CATARACT with severe deficiency of respiratory complex I" NARROW [] xref: GARD:3908 xref: MESH:C537475 xref: ORDO:2609 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060537 name: mitochondrial complex II deficiency def: "A mitochondrial metabolism disease characterized by a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. It has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded SDHA gene on chromosome 5p, the nuclear-encoded SDHAF1 gene on chromosome 19q, or the nuclear-encoded SDHD gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23322652 "DO"] synonym: "isolated mitochondrial respiratory chain complex II deficiency" EXACT [] synonym: "isolated succinate-coenzyme Q reductase deficiency" EXACT [] synonym: "isolated succinate-CoQ reductase deficiency" EXACT [] synonym: "isolated succinate-ubiquinone reductase deficiency" EXACT [] synonym: "succinate CoQ reductase deficiency" EXACT [] xref: GARD:5053 xref: ICD10CM:G71.3 xref: MESH:C565375 xref: MIM:PS252011 xref: ORDO:3208 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060538 name: purpura fulminans def: "A purpura characterized by blood spots, bruising and discoloration of the skin resulting from coagulation in small blood vessels within the skin and rapidly leading to skin necrosis and disseminated intravascular coagulation. It is often fatal. (DO)" [https://en.wikipedia.org/wiki/Purpura_fulminans "DO", https://www.ncbi.nlm.nih.gov/pubmed/26955583 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=49566 "DO"] synonym: "purpura gangrenosa" EXACT [] xref: EFO:1001913 xref: ICD10CM:D65 xref: MESH:D055665 xref: ORDO:49566 is_a: DOID:3326 ! purpura [Term] id: DOID:0060539 name: Hermansky-Pudlak syndrome 1 alt_id: MIM:203300 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS1 gene on chromosome 10q24. (DO)" [http://omim.org/entry/203300 "DO"] synonym: "albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells" EXACT [] synonym: "delta storage pool disease" EXACT [] synonym: "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS" BROAD [] synonym: "HPS1" EXACT [] synonym: "HPS1-RELATED CONDITION" EXACT [] xref: MESH:C538539 xref: NCI:C150367 is_a: DOID:3753 ! Hermansky-Pudlak syndrome is_a: DOID:9001386 ! Albinism [Term] id: DOID:0060540 name: Hermansky-Pudlak syndrome 2 alt_id: MIM:608233 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta-3A subunit of the AP3 complex (AP3B1) on chromosome 5q14.1. (DO)" [http://omim.org/entry/608233 "DO"] synonym: "Hermansky-Pudlak syndrome with neutropenia" EXACT [] synonym: "HPS2" EXACT [] synonym: "Platelet defects and oculocutaneous albinism" EXACT [] xref: MESH:C537709 xref: NCI:C150368 xref: ORDO:183678 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060541 name: Hermansky-Pudlak syndrome 3 def: "A Hermasky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS3 gene on chromosome 3q24. (DO)" [http://omim.org/entry/614072 "DO"] synonym: "HPS3" EXACT [] xref: MIM:614072 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060542 name: Hermansky-Pudlak syndrome 4 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS4 gene on chromosome 22q12.1. (DO)" [http://omim.org/entry/614073 "DO"] synonym: "HERMANSKY-PUDLAK SYNDROME WITH PULMONARY FIBROSIS" BROAD [] synonym: "HPS4" EXACT [] synonym: "HPS4-RELATED CONDITION" EXACT [] xref: MIM:614073 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060543 name: Hermansky-Pudlak syndrome 5 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the HPS5 gene on chromosome 11p14. (DO)" [http://omim.org/entry/614074 "DO"] synonym: "HPS5" EXACT [] synonym: "HPS5-RELATED CONDITION" EXACT [] xref: MIM:614074 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060544 name: Hermansky-Pudlak syndrome 6 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HPS6 gene on chromosome 10q24. (DO)" [http://omim.org/entry/614075 "DO"] synonym: "HPS6" EXACT [] synonym: "HPS6-RELATED CONDITION" EXACT [] xref: MIM:614075 xref: NCI:C150369 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060545 name: Hermansky-Pudlak syndrome 7 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the DTNBP1 gene on chromosome 6p22.3. (DO)" [http://omim.org/entry/614076 "DO"] synonym: "DTNBP1-RELATED CONDITION" EXACT [] synonym: "HPS7" EXACT [] xref: MIM:614076 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060546 name: Hermansky-Pudlak syndrome 8 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the BLOC1S3 gene on chromosome 19q13. (DO)" [http://omim.org/entry/614077 "DO"] synonym: "BLOC1S3-RELATED CONDITION" EXACT [] synonym: "HPS8" EXACT [] xref: MIM:614077 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060547 name: Hermansky-Pudlak syndrome 9 def: "A Hermansky-Pudlak syndrome that has_material_basis_in homozygous mutation in the gene encoding palladin (BLOC1S6) on chromosome 15q21. (DO)" [http://omim.org/entry/614171 "DO"] synonym: "HPS9" EXACT [] xref: MIM:614171 xref: MONDO:0013606 is_a: DOID:3753 ! Hermansky-Pudlak syndrome [Term] id: DOID:0060548 name: luminal breast carcinoma A def: "A breast carcinoma that is characterized by high expression of genes characteristic of luminal epithelial cells, including estrogen receptor (ER), estrogen regulated protein LIV-1, and the transcription factors hepatocyte nuclear factor 3, HNF3A, XBP1, and GATA 3. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ "DO"] synonym: "breast tumor luminal" BROAD [] synonym: "EFO:0000306" EXACT [] synonym: "luminal breast cancer" BROAD [] xref: EFO:0000306 xref: NCI:C53554 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:0060549 name: Barber-Say syndrome alt_id: MIM:209885 def: "A syndrome characterized by d by the association of excessive hair growth (hypertrichosis), papery thin and fragile (atrophic) skin, outward turned eyelids (ectropion) and a large mouth (macrostomia). It is that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)" [https://rarediseases.info.nih.gov/gard/819/barber-say-syndrome/resources/1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27196381 "DO"] synonym: "BBRSAY" EXACT [] synonym: "BSS" EXACT [] synonym: "hypertrichosis, atrophic skin, ectropion, and macrostomia" EXACT [] xref: GARD:819 xref: MESH:C537908 xref: ORDO:1231 is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:530 ! eyelid disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9004507 ! Hirsutism is_a: DOID:9008205 ! Macrostomia [Term] id: DOID:0060550 name: ablepharon macrostomia syndrome alt_id: MIM:200110 def: "A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. (DO)" [http://rarediseases.org/rare-diseases/ablepharon-macrostomia-syndrome/ "DO", https://en.wikipedia.org/wiki/Ablepharon_macrostomia_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/27196381 "DO"] synonym: "AMS" EXACT [] xref: GARD:3 xref: MESH:C535557 xref: ORDO:920 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008205 ! Macrostomia is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060551 name: poikiloderma with neutropenia alt_id: MESH:C538345 alt_id: MIM:604173 def: "A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections and has_material_basis_in mutation in the C16ORF57 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20734427 "DO"] synonym: "Navajo immune deficient poikiloderma" EXACT [] synonym: "Navajo Poikiloderma" EXACT [] synonym: "PN" EXACT [] synonym: "poikiloderma with neutropenia, Clericuzio-type" EXACT [] xref: GARD:4085 xref: MESH:C565820 xref: NCI:C177535 xref: ORDO:221046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1227 ! neutropenia is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060556 name: Kufor-Rakeb syndrome alt_id: MIM:606693 def: "An early-onset Parkinson's disease that is characterized by supranuclear gaze palsy, spasticity, and dementia and has_material_basis_in homozygous or compound heterozygous mutation in a lysosomal type 5 ATPase encoding gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15986421 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23791710 "DO"] synonym: "ATP13A2-RELATED CONDITION" BROAD [] synonym: "autosomal recessive Parkinson's disease 9, juvenile-onset" EXACT [] synonym: "autosomal recessive Parkinson disease 9" EXACT [] synonym: "autosomal recessive Parkinson disease 9, juvenile onset" EXACT [] synonym: "KRPPD" EXACT [] synonym: "KRS" EXACT [] synonym: "pallidopyramidal degeneration with supranuclear upgaze paresis and dementia" EXACT [] synonym: "PARK9" EXACT [] synonym: "Parkinson's disease 9" EXACT [] synonym: "Parkinson disease 9" EXACT [] xref: MESH:C537177 xref: NCI:C203534 xref: ORDO:306674 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060557 name: ataxia with oculomotor apraxia type 3 def: "An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. (DO)" [https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia "DO"] synonym: "AOA3" EXACT [] synonym: "ataxia-oculomotor apraxia 3" EXACT [] xref: MIM:615217 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0060135 ! apraxia is_a: DOID:12704 ! ataxia telangiectasia is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0060558 name: lethal congenital contracture syndrome def: "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22610851 "DO"] xref: GARD:12643 xref: ICD10CM:Q68.8 xref: MIM:PS253310 xref: ORDO:294965 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0060559 name: lethal congenital contracture syndrome 1 def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9683599 "DO"] synonym: "GLE1-RELATED CONDITION" BROAD [] synonym: "GLE1-RELATED DISORDER" BROAD [] synonym: "LCCS" EXACT [] synonym: "LCCS1" EXACT [] synonym: "lethal autosomal recessive syndrome of multiple congenital contractures" EXACT [] synonym: "LETHAL CONGENITAL CONTRACTURAL SYNDROME FINNISH TYPE" EXACT [] synonym: "multiple contracture syndrome, Finnish type" EXACT [] xref: GARD:3227 xref: MESH:C537194 xref: MIM:253310 xref: MONDO:0009670 xref: ORDO:1486 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:0060560 name: lethal congenital contracture syndrome 2 def: "A lethal congenital contracture syndrome that can be that has_material_basis_in homozygous mutation in the ERBB3 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15378541 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17701904 "DO"] synonym: "LCCS2" EXACT [] synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT [] synonym: "multiple contracture syndrome, Israeli Bedouin type A" EXACT [] xref: GARD:9177 xref: MESH:C564369 xref: MIM:607598 xref: MONDO:0011868 xref: ORDO:137776 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:0060562 name: anomalous left coronary artery from the pulmonary artery alt_id: MESH:D000080038 def: "A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. (DO)" [https://en.wikipedia.org/wiki/Anomalous_left_coronary_artery_from_the_pulmonary_artery "DO"] synonym: "ALCAPA" EXACT [] synonym: "ALCAPA syndrome" EXACT [] synonym: "ALCAPA syndromes" EXACT [] synonym: "Bland White Garland syndrome" EXACT [] synonym: "White-Garland syndrome" EXACT [] xref: MESH:D063748 is_a: DOID:11843 ! coronary artery anomaly is_a: DOID:9000018 ! Coronary Vessel Anomalies is_a: DOID:9003403 ! Arterio-Arterial Fistula [Term] id: DOID:0060563 name: Char syndrome alt_id: MIM:169100 def: "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10368122/ "DO"] synonym: "CHAR" EXACT [] synonym: "Patent Ductus Arteriosus With Facial Dysmorphism And Abnormal Fifth Digits" EXACT [] xref: GARD:1237 xref: MESH:C566815 is_a: DOID:13832 ! patent ductus arteriosus is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060564 name: spinal disease def: "A bone disease that is located_in the spine. (DO)" [https://en.wikipedia.org/wiki/Spinal_disease "DO"] synonym: "spinal diseases" EXACT [] xref: MESH:D013122 is_a: DOID:0080001 ! bone disease [Term] id: DOID:0060565 name: Ritscher-Schinzel syndrome def: "A syndrome characterized by craniofacial (prominent occiputal and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies. (DO)" [https://en.wikipedia.org/wiki/3C_syndrome "DO"] synonym: "3C syndrome" EXACT [] synonym: "CCC dysplasia" EXACT [] synonym: "Craniocerebellocardiac dysplasia" EXACT [] synonym: "Dandy-Walker-like malformation with atrioventricular septal defect" EXACT [] synonym: "RTSC" EXACT [] xref: MESH:C535313 xref: MIM:PS220210 xref: ORDO:7 is_a: DOID:0050177 ! monogenic disease is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:2785 ! Dandy-Walker syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060566 name: Holzgreve-Wagner-Rehder syndrome alt_id: MIM:236110 alt_id: RDO:0000383 def: "A syndrome characterized by Potter sequence, heart defect, cleft palate, polydactyly, and skeletal defects. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3232694 "DO"] synonym: "Complex congenital heart defect, renal agenesis, and cleft lip and palate" EXACT [] synonym: "Holzgreve syndrome" EXACT [] xref: MESH:C535327 xref: ORDO:2167 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060567 name: erythema elevatum diutinum def: "A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. (DO)" [http://www.dermnetnz.org/vascular/erythema-elevatum-diutinum.html "DO"] synonym: "Extracellular cholesterosis" EXACT [] synonym: "Leukocytoclastic vasculitis" EXACT [] xref: GARD:8653 xref: ICD10CM:L95.1 xref: MESH:C535509 xref: ORDO:90000 xref: RDO:0000655 is_a: DOID:11450 ! allergic cutaneous vasculitis [Term] id: DOID:0060569 name: hypertrichotic osteochondrodysplasia Cantu type alt_id: MIM:239850 def: "An osteochondrodysplasia that is characterized by congenital hypertrichosis, neonatal macrosomia, and cardiomegaly. (DO)" [https://en.wikipedia.org/wiki/Cant%C3%BA_syndrome "DO", https://ghr.nlm.nih.gov/condition/cantu-syndrome "DO"] synonym: "Cantu syndrome" EXACT [] synonym: "Hypertrichosis-Osteochondrodysplasia-Cardiomegaly Syndrome" EXACT [] synonym: "Hypertrichotic osteochondrodysplasia" EXACT [] xref: GARD:8585 xref: MESH:C535572 xref: RDO:0000771 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:420 ! hypertrichosis is_a: DOID:9003936 ! Cardiomegaly [Term] id: DOID:0060570 name: cardiac tuberculosis def: "A tuberculosis located in the heart. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28814447/ "DO"] synonym: "cardiovascular tuberculoses" EXACT [] synonym: "cardiovascular tuberculosis" EXACT [] xref: EFO:1001442 xref: MESH:D014381 is_a: DOID:114 ! heart disease is_a: DOID:399 ! tuberculosis is_a: DOID:9003237 ! Cardiovascular Infections [Term] id: DOID:0060571 name: Ritscher-Schinzel syndrome 1 def: "A Ritscher-Schinzel syndrome that has_material_basis_in homozygous mutation in the KIAA0196 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24065355 "DO"] synonym: "RTSC1" EXACT [] synonym: "WASHC5-RELATED CONDITION" BROAD [] xref: MIM:220210 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060565 ! Ritscher-Schinzel syndrome created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060572 name: Ritscher-Schinzel syndrome 2 def: "A Ritscher-Schinzel syndrome that has_material_basis_in mutation in the CCDC22 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24916641 "DO"] synonym: "CCDC22-RELATED CONDITION" EXACT [] synonym: "RTSC2" EXACT [] xref: MIM:300963 is_a: DOID:0060565 ! Ritscher-Schinzel syndrome is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2015-12-08T00:00:00Z [Term] id: DOID:0060573 name: von Willebrand's disease 1 alt_id: MIM:193400 alt_id: OMIA:001057 def: "A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has_material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16889557 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8456432 "DO"] synonym: "von Willebrand disease I" EXACT [] synonym: "von Willebrand disease type 1" EXACT [] synonym: "von Willebrand disease type 1, susceptibility to" RELATED [] synonym: "von Willebrand disease type I" EXACT [] synonym: "VWD1" EXACT [] synonym: "VWD, TYPE 1" EXACT [] xref: ICD10CM:D68.01 xref: MESH:D056725 xref: NCI:C131685 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:0060574 name: von Willebrand's disease 2 alt_id: MIM:613554 alt_id: OMIA:001339 def: "A von Willebrand's disease characterized by qualitative but not quantitative abnormalities of the VWF protein that has_material_basis_in mutation in the VWF gene which maps to chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20409624 "DO"] synonym: "Type IIA von Willebrand Disease" EXACT [] synonym: "Type IIB von Willebrand Disease" EXACT [] synonym: "Type IIM von Willebrand Disease" EXACT [] synonym: "Type IIN von Willebrand Disease" EXACT [] synonym: "Type II von Willebrand Disease" EXACT [] synonym: "Von Willebrand disease II" EXACT [] synonym: "von Willebrand disease, type 2" EXACT [] synonym: "von Willebrand disease, type 2A" NARROW [] synonym: "von Willebrand disease, type 2B" NARROW [] synonym: "von Willebrand disease, type 2M" NARROW [] synonym: "von Willebrand disease, type 2N" NARROW [] synonym: "VON WILLEBRAND FACTOR POLYMORPHISM" RELATED [] synonym: "VWD2" EXACT [] synonym: "VWD2A" NARROW [] synonym: "VWD2B" NARROW [] synonym: "VWD2M" NARROW [] synonym: "VWD2N" NARROW [] synonym: "VWD type 2" EXACT [] xref: ICD10CM:D68.02 xref: MESH:D056728 xref: ORDO:166081 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:0060575 name: 3MC syndrome 1 alt_id: MIM:257920 def: "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mannan binding lectin serine peptidase 1 gene (MASP1) on chromosome 3q27. (DO)" [https://ghr.nlm.nih.gov/condition/3mc-syndrome "DO", https://www.omim.org/entry/257920 "DO"] synonym: "3MC1" EXACT [] synonym: "craniosynostosis with lid anomalies" EXACT [] synonym: "Michels syndrome" EXACT [] synonym: "oculopalatoskeletal syndrome" EXACT [] xref: EFO:1001978 xref: MESH:C537738 is_a: DOID:0060225 ! 3MC syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060576 name: 3MC syndrome 2 alt_id: MIM:265050 def: "A 3MC syndrome that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the collectin subfamily member 11 gene (COLEC11) on chromosome 2p25. (DO)" [https://ghr.nlm.nih.gov/condition/3mc-syndrome "DO", https://www.omim.org/entry/265050 "DO"] synonym: "3MC2" EXACT [] synonym: "Carnevale Krajewska Fischetto syndrome" EXACT [] synonym: "Carnevale Syndrome" EXACT [] synonym: "oculo-skeletal-abdominal syndrome" EXACT [] synonym: "OSA Syndrome" EXACT [] synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" EXACT [] xref: EFO:1001977 xref: MESH:C535586 is_a: DOID:0060225 ! 3MC syndrome is_a: DOID:0060260 ! ptosis is_a: DOID:11383 ! cryptorchidism is_a: DOID:540 ! strabismus is_a: DOID:9005560 ! Congenital Hip Dislocation [Term] id: DOID:0060577 name: 3MC syndrome 3 def: "A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21258343 "DO"] synonym: "3MC3" EXACT [] synonym: "facial clefting syndrome, Gypsy type" EXACT [] synonym: "Malpuech facial clefting syndrome" EXACT [] synonym: "Malpuech syndrome" EXACT [] xref: MESH:C535704 xref: MIM:248340 xref: MONDO:0009554 is_a: DOID:0060225 ! 3MC syndrome is_a: DOID:1682 ! congenital heart disease is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0060578 name: Noonan syndrome 1 def: "A Noonan syndrome that has_material_basis_in the PTPN11 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18203203 "DO"] synonym: "Noonan syndrome type 1" EXACT [] synonym: "NS1" EXACT [] xref: MIM:163950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0060580 name: Noonan syndrome 2 def: "A Noonan syndrome characterized by hypertrophic obstructive cardiomyopathy and that has_material_basis_in homozygous or compound heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5782826 "DO"] synonym: "Noonan syndrome, autosomal recessive" BROAD [] synonym: "NS2" EXACT [] xref: MESH:C548081 xref: MIM:605275 xref: MONDO:0011531 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060581 name: Noonan syndrome 3 alt_id: MIM:609942 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the KRAS gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16474405 "DO"] synonym: "NS3" EXACT [] xref: MESH:C537847 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060582 name: Noonan syndrome 4 alt_id: MIM:610733 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS1 gene on chromosome 2p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19438935 "DO"] synonym: "NS4" EXACT [] synonym: "SOS1-RELATED CONDITION" BROAD [] xref: MESH:C548082 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060583 name: Noonan syndrome 5 alt_id: MIM:611553 def: "A Noonan syndrome that has_material_basis_in mutation in the RAF1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17603483 "DO"] synonym: "NS5" EXACT [] xref: MESH:C548083 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060584 name: Noonan syndrome 6 alt_id: MIM:613224 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the NRAS gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19966803 "DO"] synonym: "NS6" EXACT [] xref: MESH:C548084 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060585 name: Noonan syndrome 7 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the BRAF gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19206169 "DO"] synonym: "NS7" EXACT [] xref: MIM:613706 xref: MONDO:0013379 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060586 name: Noonan syndrome 8 def: "A Noonan syndrome that has_material_basis_in caused by heterozygous mutation in the RIT1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24939608 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25124994 "DO"] synonym: "NS8" EXACT [] synonym: "RIT1-RELATED CONDITION" EXACT [] xref: MIM:615355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060587 name: Noonan syndrome 9 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the SOS2 gene on chromosome 14q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25795793 "DO"] synonym: "NS9" EXACT [] synonym: "SOS2-RELATED CONDITION" EXACT [] xref: MIM:616559 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060588 name: Noonan syndrome 10 alt_id: RDO:9001517 def: "A Noonan syndrome that has_material_basis_in heterozygous mutation in the LZTR1 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25795793 "DO"] synonym: "AUTOSOMAL RECESSIVE NOONAN-LIKE SYNDROME DUE TO COMPOUND HETEROZYGOUS VARIANTS IN LZTR1" EXACT [] synonym: "LZTR1-related disorder" RELATED [] synonym: "NS10" EXACT [] xref: MIM:616564 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:0060589 name: Yunis-Varon syndrome alt_id: MIM:216340 alt_id: RDO:0002382 def: "A syndrome characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. It is usually lethal in infancy and has_material_basis_in homozygous or compound heterozygous mutation in the FIG4 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23623387 "DO"] synonym: "cleidocranial dysplasia-micrognathia-absent thumbs syndrome" EXACT [] synonym: "cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia" EXACT [] synonym: "YVS" EXACT [] xref: GARD:331 xref: MESH:C536719 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13994 ! cleidocranial dysplasia is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9005616 ! Micrognathism is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0060590 name: XFE progeroid syndrome alt_id: MIM:610965 def: "A progeroid syndrome that is characterized by aged bird-like facies, lack of subcutaneous fat, dwarfism, cachexia and microcephaly and that has_material_basis_in homozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17183314 "DO"] synonym: "XFEPS" EXACT [] synonym: "XPF-ERCC1 Progeroid Syndrome" EXACT [] xref: GARD:10628 xref: MESH:C567043 xref: NCI:C173111 is_a: DOID:0050427 ! xeroderma pigmentosum is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome is_a: DOID:2962 ! Cockayne syndrome [Term] id: DOID:0060591 name: WHIM syndrome 1 def: "An immunodeficiency disease that is characterized by neutropenia, hypogammaglobulinemia, and extensive human papillomavirus infection and that has_material_basis_in heterozygous mutation in the CXCR4 gene on chromosome 2q22. (DO)" [https://en.wikipedia.org/wiki/WHIM_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/10767001 "DO"] synonym: "CXCR4-RELATED CONDITION" EXACT [] synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 1" EXACT [] synonym: "WHIMS1" EXACT [] synonym: "WHIM syndrome 1" EXACT [] xref: GARD:9297 xref: MESH:C536697 xref: MIM:193670 xref: MONDO:8000006 xref: NCI:C176819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3178 ! skin papilloma is_a: DOID:9004715 ! WHIM Syndrome [Term] id: DOID:0060592 name: B-cell adult acute lymphocytic leukemia def: "An adult acute lymphoblastic leukemia occurring in adults and that has_material_basis_in B lymphocytes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9143 "DO"] synonym: "adult B acute lymphoblastic leukaemia" EXACT [] synonym: "adult B acute lymphoblastic leukemia" EXACT [] synonym: "adult b-cell acute lymphoblastic leukaemia" EXACT [] synonym: "adult b-cell acute lymphoblastic leukemia" EXACT [] synonym: "adult b-cell lymphocytic leukaemia" EXACT [] synonym: "adult b-cell lymphocytic leukemia" EXACT [] synonym: "adult B-lymphoblastic leukaemia" EXACT [] synonym: "adult B-lymphoblastic leukemia" EXACT [] synonym: "B-cell adult acute lymphocytic leukaemia" EXACT [] synonym: "EFO:1001935" EXACT [] xref: EFO:1001935 xref: NCI:C9143 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma is_a: DOID:5604 ! adult acute lymphocytic leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0060597 name: atypical chronic myeloid leukemia, BCR-ABL1 negative alt_id: DOID:8747 def: "A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C3519 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29226717 "DO"] synonym: "aCML" EXACT [] synonym: "atypical chronic myeloid leukaemia" EXACT [] synonym: "atypical chronic myeloid leukaemia BCR-ABL1 negative" EXACT [] synonym: "atypical chronic myeloid leukemia" EXACT [] synonym: "atypical CML" EXACT [] synonym: "Ph1-negative myelogenous leukemia" EXACT [] synonym: "Ph1-negative myelogenous leukemias" EXACT [] synonym: "Ph1-negative myeloid leukemia" EXACT [] synonym: "Ph1-negative myeloid leukemias" EXACT [] synonym: "Philadelphia-negative myeloid leukemia" EXACT [] synonym: "Philadelphia-negative myeloid leukemias" EXACT [] synonym: "subacute myeloid leukemia" EXACT [] xref: ICD10CM:C92.2 xref: ICD9CM:205.2 xref: ICDO:9876/3 xref: MESH:D054438 xref: NCI:C3176 xref: NCI:C3519 xref: ORDO:98824 is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:0060599 name: Nance-Horan syndrome alt_id: MIM:302350 def: "A syndrome that has_material_basis_in mutation in the NHS gene on chromosome Xp22 and is characterized by congenital cataract leading to profound vision loss, characteristic dysmorphic features and dental anomalies. (DO)" [https://en.wikipedia.org/wiki/Nance-Horan_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2246772 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6467651 "DO"] synonym: "cataract-dental syndrome" EXACT [] synonym: "Mesiodens-Cataract syndrome" EXACT [] synonym: "NHS" EXACT [] synonym: "NHS-RELATED CONDITION" BROAD [] synonym: "X-linked cataract, with Hutchinsonian teeth" EXACT [] xref: GARD:7161 xref: MESH:C538336 xref: ORDO:627 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0060601 name: alpha-2-plasmin inhibitor deficiency alt_id: MIM:262850 alt_id: RDO:0003676 def: "A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11472338 "DO", https://www.ncbi.nlm.nih.gov/pubmed/156196 "DO"] synonym: "antiplasmin deficiency" EXACT [] synonym: "Anti-Plasmin Deficiency, Congenital" EXACT [] synonym: "Antiplasmin deficiency, congenital" EXACT [] synonym: "antiplasmin defiency" RELATED [] synonym: "plasmin inhibitor deficiency" EXACT [] xref: ICD10CM:D68.8 xref: MESH:C537777 xref: ORDO:79 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2213 ! hemorrhagic disease [Term] id: DOID:0060602 name: alpha-methylacyl-CoA racemase deficiency alt_id: MIM:614307 def: "A peroxisomal disease that is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism and that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11861706 "DO"] synonym: "AMACRD" EXACT [] synonym: "AMACR Deficiency" EXACT [] xref: EFO:1001980 xref: MESH:C565768 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:863 ! nervous system disease is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0060603 name: isolated anhidrosis with normal sweat glands def: "An anhidrosis that has_material_basis_in homozygous mutation in the ITPR2 gene on chromosome 12p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2401610 "DO"] synonym: "ANHD" EXACT [] synonym: "Dann-Epstein-Sohar syndrome" EXACT [] xref: MIM:106190 xref: MONDO:0007118 is_a: DOID:11156 ! anhidrosis [Term] id: DOID:0060604 name: ankyloglossia alt_id: MIM:106280 def: "A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. (DO)" [https://en.wikipedia.org/wiki/Ankyloglossia "DO", https://www.ncbi.nlm.nih.gov/pubmed/18983637 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5251442 "DO"] synonym: "Ankyloglossias" EXACT [] synonym: "partial ankyloglossia" EXACT [] synonym: "partial ankyloglossias" EXACT [] synonym: "tongue tie" EXACT [] synonym: "tongue ties" EXACT [] xref: ICD10CM:Q38.1 xref: MESH:D000072676 is_a: DOID:10944 ! tongue disease [Term] id: DOID:0060606 name: fetal nicotine spectrum disorder def: "A specific developmental disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of nicotine during pregnancy. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2905398/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20363831 "DO"] is_a: DOID:0060038 ! specific developmental disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060608 name: microcephalic osteodysplastic primordial dwarfism type I alt_id: MIM:210710 def: "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that is characterized by dwarfism, microcephaly, mental retardation, brain malformations, and ocular, auditory sensory deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the RNU4ATAC gene, encoding a small nuclear RNA component of the U12-dependent spliceosome, on chromosome 2q14.2. (DO)" [http://omim.org/entry/210710 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22302400 "DO"] synonym: "brachymelic primordial dwarfism" EXACT [] synonym: "cephaloskeletal dysplasia" EXACT [] synonym: "low-birth-weight dwarfism with skeletal dysplasia" EXACT [] synonym: "microcephalic osteodysplastic primordial dwarfism type 1" EXACT [] synonym: "Mopd 1" EXACT [] synonym: "Mopd1" EXACT [] synonym: "Mopd I" EXACT [] synonym: "MopdI" EXACT [] synonym: "osteodysplastic primordial dwarfism, type 1" EXACT [] synonym: "osteodysplastic primordial dwarfism, type I" EXACT [] synonym: "TALS" EXACT [] synonym: "Taybi Linder syndrome" EXACT [] xref: GARD:5120 xref: MESH:C537577 xref: ORDO:2636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002954 ! Microcephalic Osteodysplastic Primordial Dwarfism [Term] id: DOID:0060609 name: microcephalic osteodysplastic primordial dwarfism type II alt_id: MIM:210720 def: "An osteochondrodysplasia that is a form of microcephalic osteodysplastic primordial dwarfism that has_material_basis_in homozygous or compound heterozygous mutation in the PCNT gene, encoding pericentrin, on chromosome 21q22. It is characterized by intrauterine growth retardation, severe proportionate short stature, and microcephaly. (DO)" [http://omim.org/entry/210720 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7551160 "DO"] synonym: "Majewski osteodysplastic primordial dwarfism type II" EXACT [] synonym: "microcephalic osteodysplastic primordial dwarfism, type 2" EXACT [] synonym: "microcephalic osteodysplastic primordial dwarfism with tooth abnormalities" EXACT [] synonym: "MOPD2" EXACT [] synonym: "MOPD II" EXACT [] synonym: "MOPDII" EXACT [] synonym: "osteodysplastic primordial dwarfism, type 2" EXACT [] synonym: "osteodysplastic primordial dwarfism type II" EXACT [] synonym: "PCNT-RELATED CONDITION" EXACT [] xref: MESH:C565898 xref: ORDO:2637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002954 ! Microcephalic Osteodysplastic Primordial Dwarfism [Term] id: DOID:0060610 name: megacystis-microcolon-intestinal hypoperistalsis syndrome def: "A syndrome that is characterized by marked dilatation of the bladder and microcolon and decreased intestinal peristalsis. (DO)" [https://en.wikipedia.org/wiki/Berdon_syndrome "DO", https://rarediseases.info.nih.gov/diseases/3442/megacystis-microcolon-intestinal-hypoperistalsis-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21792650 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25407000 "DO"] synonym: "Berdon syndrome" EXACT [] synonym: "idiopathic intestinal pseudoobstruction" EXACT [] synonym: "infantile visceral myopathy" EXACT [] synonym: "megacystis-microcolon-intestinal hypoperistalsis syndrome, MMIH" EXACT [] synonym: "megaduodenum and/or megacystis" EXACT [] synonym: "MMIH" EXACT [] synonym: "visceral myopathy" EXACT [] synonym: "VSCM" EXACT [] xref: MESH:C536138 xref: MESH:C563597 xref: MIM:155310 xref: MIM:PS249210 xref: MONDO:0025986 xref: NCI:C98982 xref: ORDO:2241 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:225 ! syndrome is_a: DOID:9002025 ! Familial Visceral Myopathy is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060611 name: abdominal obesity-metabolic syndrome def: "A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17167477/ "DO"] xref: MESH:C535554 xref: MIM:PS605552 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006646 ! Metabolic Syndrome is_a: DOID:9007772 ! Abdominal Obesity [Term] id: DOID:0060612 name: abdominal obesity-metabolic syndrome 3 alt_id: RDO:9001051 def: "An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. (DO)" [http://omim.org/entry/615812 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24827035 "DO"] synonym: "AOMS3" EXACT [] synonym: "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease" EXACT [] synonym: "DYRK1B-RELATED CONDITION" EXACT [] xref: MIM:615812 is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome [Term] id: DOID:0060613 name: X-linked cleft palate with or without ankyloglossia alt_id: MIM:303400 def: "A cleft palate that has_material_basis_in mutation in the TBX22 gene on chromosome Xq21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14729838 "DO"] synonym: "CPX" EXACT [] synonym: "X-linked cleft palate" EXACT [] synonym: "X-linked cleft palate and ankyloglossia" EXACT [] xref: MESH:C536426 xref: ORDO:324601 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:674 ! cleft palate [Term] id: DOID:0060614 name: ulnar-mammary syndrome alt_id: MIM:181450 def: "A syndrome that is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies and that has_material_basis_in heterozygous mutation in the TBX3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8595424 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8923944 "DO"] synonym: "Pallister ulnar-mammary syndrome" EXACT [] synonym: "Schinzel syndrome" EXACT [] synonym: "TBX3-RELATED CONDITION" EXACT [] synonym: "ulnar-mammary syndrome of Pallister" EXACT [] synonym: "UMS" EXACT [] xref: GARD:118 xref: MESH:C536937 xref: ORDO:3138 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:3463 ! breast disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060638 name: neonatal diabetes mellitus with congenital hypothyroidism alt_id: MIM:610199 def: "A neonatal diabetes that is characterized by intrauterine growth retardation, hypothyroidism and onset of nonimmune diabetes mellitus within the first few weeks of life, and that has_material_basis_in homozygous or compound heterozygous mutations in the GLIS3 gene on chromosome 9p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16715098 "DO"] synonym: "NDH" EXACT [] synonym: "NDH syndrome" EXACT [] xref: MESH:C565705 xref: ORDO:79118 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11717 ! neonatal diabetes is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0060639 name: permanent neonatal diabetes mellitus def: "A neonatal diabetes that has_material_basis_in homozygous mutation in the glucokinase gene (GCK), heterozygous mutation in the KCNJ11 and INS genes, or by heterozygous or homozygous mutation in the ABCC8 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17213273 "DO"] synonym: "DEND" NARROW [] synonym: "developmental delay, epilepsy, and neonatal diabetes" NARROW [] synonym: "PDMI" EXACT [] synonym: "permanent diabetes mellitus, of infancy" EXACT [] synonym: "permanent neonatal diabetes mellitus (PNDM)" EXACT [] synonym: "permanent neonatal diabetes mellitus, with neurologic features" NARROW [] synonym: "PNDM" EXACT [] xref: GARD:10457 xref: MESH:C563425 xref: MIM:PS606176 xref: NCI:C114902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11717 ! neonatal diabetes is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0060640 name: ethylmalonic encephalopathy def: "A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. (DO)" [https://en.wikipedia.org/wiki/Ethylmalonic_encephalopathy "DO", https://ghr.nlm.nih.gov/condition/ethylmalonic-encephalopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/20528888 "DO"] synonym: "EE" EXACT [] synonym: "encephalopathy, petechiae, and ethylmalonic aciduria" EXACT [] synonym: "Epema Syndrome" EXACT [] synonym: "syndrome of encephalopathy, petechiae, and ethylmalonic aciduria" EXACT [] xref: GARD:2198 xref: MESH:C535737 xref: MIM:602473 xref: MONDO:0011229 xref: ORDO:51188 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060641 name: endocrine-cerebro-osteodysplasia syndrome alt_id: MIM:612651 def: "A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19185282 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24853502 "DO"] synonym: "DYSPLASTIC CORPUS CALLOSUM" NARROW [] synonym: "ECO" EXACT [] synonym: "ECO syndrome" EXACT [] synonym: "endocrine-cerebroosteodysplasia" EXACT [] xref: MESH:C567210 xref: ORDO:199332 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:28 ! endocrine system disease is_a: DOID:331 ! central nervous system disease [Term] id: DOID:0060642 name: recessive dystrophic epidermolysis bullosa def: "An epidermolysis bullosa dystrophica characterized by recurrent blistering at the level of the sublamina densa beneath the cutaneous basement membrane; it has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding type VII collagen (COL7A1) on chromosome 3p21. (DO)" [https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa "DO", https://www.ncbi.nlm.nih.gov/pubmed/3307723 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8513326 "DO"] synonym: "autosomal recessive dystrophic epidermolysis bullosa generalisata gravis" EXACT [] synonym: "autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type" EXACT [] synonym: "autosomal recessive epidermolysis bullosa dystrophica inversa" EXACT [] synonym: "RDEB, Hallopeau-Siemens type" EXACT [] synonym: "severe generalized RDEB" NARROW [] synonym: "severe generalized recessive dystrophic epidermolysis bullosa" NARROW [] xref: ICD10CM:Q81.2 xref: MESH:C567122 xref: ORDO:79408 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0060643 name: primary sclerosing cholangitis def: "A sclerosing cholangitis characterized by fibroobliterative inflammation of the biliary tract, leading to cirrhosis and portal hypertension. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7877651 "DO"] synonym: "primary sclerosing cholangitides" EXACT [] synonym: "PSC" EXACT [] xref: GARD:1280 xref: ICD10CM:K83.01 xref: MIM:613806 xref: MONDO:0013433 xref: NCI:C4828 xref: ORDO:171 is_a: DOID:14268 ! sclerosing cholangitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060644 name: chondrodysplasia-pseudohermaphroditism syndrome def: "A syndrome characterized by the clinical features of 46,XY complete gonadal dysgenesis in association with severe dwarfism with generalized chondrodysplasia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1342874 "DO"] synonym: "chondrodysplasia-disorder of sex development syndrome" EXACT [] synonym: "chondrodysplasia pseudohermaphrodism syndrome" EXACT [] synonym: "Nivelon-Nivelon-Mabille syndrome" EXACT [] synonym: "NNMS" EXACT [] synonym: "pseudohermaphrodism and chondrodysplasia" EXACT [] xref: MESH:C536123 xref: MIM:600092 xref: MONDO:0010814 xref: ORDO:1422 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:0060645 name: chronic recurrent multifocal osteomyelitis def: "An osteomyelitis characterized by multiple foci of painful swelling of bones, mainly in the metaphyses of the long bones, in addition to the pelvis, the shoulder girdle and the spine. (DO)" [https://en.wikipedia.org/wiki/Chronic_recurrent_multifocal_osteomyelitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/11973628 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4403064 "DO", https://www.nomidalliance.org/crmo.php "DO"] synonym: "chronic multifocal osteomyelitis" EXACT [] synonym: "chronic osteomyelitis" EXACT [] synonym: "CMO" EXACT [] synonym: "CRMO" EXACT [] xref: GARD:6108 xref: ICD10CM:M86.3 xref: MESH:C535456 xref: MIM:PS609628 xref: MONDO:0009813 xref: ORDO:324964 is_a: DOID:0060564 ! spinal disease is_a: DOID:1019 ! osteomyelitis [Term] id: DOID:0060646 name: congenital chylothorax alt_id: MIM:603523 def: "A pleural disease characterized by the accumulation of chyle within the pleural space leading to respiratory distress, malnutrition and immunological compromise, either immediately after birth or within the first few weeks of life. (DO)" [https://en.wikipedia.org/wiki/Chylothorax "DO", https://www.ncbi.nlm.nih.gov/pubmed/416049 "DO"] synonym: "congenital hydrothorax" EXACT [] xref: MESH:C535461 xref: ORDO:264688 is_a: DOID:0080015 ! physical disorder is_a: DOID:9007840 ! Chylothorax [Term] id: DOID:0060647 name: fetal encasement syndrome def: "A syndrome that has_material_basis_in homozygous mutation in the CHUK gene on chromosome 10q24 and is characterized by multiple fetal malformations including defective face and seemingly absent limbs, which are bound to the trunk and encased under the skin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20961246 "DO"] synonym: "cocoon syndrome" EXACT [] xref: MIM:613630 xref: ORDO:465824 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060648 name: anterior segment dysgenesis alt_id: DOID:0060605 def: "An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. (DO)" [https://rarediseases.info.nih.gov/diseases/10025/anterior-segment-dysgenesis "DO", https://www.ncbi.nlm.nih.gov/pubmed/17914436 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30242500 "DO"] synonym: "anterior segment anomalies" EXACT [] synonym: "anterior segment anomalies and cataract" NARROW [] synonym: "anterior segment developmental anomaly" EXACT [] synonym: "anterior segment mesenchymal dysgenesis" EXACT [] synonym: "anterior segment ocular dysgenesis" EXACT [] synonym: "ASMD" EXACT [] synonym: "ASOD" EXACT [] synonym: "corneal opacification and other ocular anomalies" EXACT [] synonym: "corneal opacification with other ocular anomalies" EXACT [] synonym: "sclerocornea with other ocular anomalie" EXACT [] synonym: "sclerocornea with other ocular anomalies" EXACT [] xref: GARD:10025 xref: MESH:C537775 xref: MIM:PS107250 xref: ORDO:88632 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0060252 ! sclerocornea is_a: DOID:9008296 ! Eye Abnormalities created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0060649 name: congenital hereditary endothelial dystrophy of cornea alt_id: MIM:217700 def: "A corneal endothelial dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene, which encodes a sodium borate cotransporter, on chromosome 20p13 and is characterized by thickening and opacification of the cornea, altered morphology of the endothelium, and secretion of an abnormal collagenous layer at the Descemet membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16767101 "DO"] synonym: "CHED" EXACT [] synonym: "CHED2" EXACT [] synonym: "congenital hereditary endothelial dystrophy of the cornea" EXACT [] synonym: "corneal dystrophy, congenital hereditary endothelial" EXACT [] synonym: "corneal endothelial dystrophy 2" EXACT [] synonym: "corneal endothelial dystrophy 2, autosomal recessive" EXACT [] synonym: "corneal endothelial dystrophy type 2" EXACT [] xref: MESH:C536439 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060443 ! corneal endothelial dystrophy is_a: DOID:0080015 ! physical disorder [Term] id: DOID:0060650 name: dicarboxylic aminoaciduria alt_id: MIM:222730 def: "An amino acid metabolic disorder that is characterized by an excess urinary excretion of aspartate and glutamate acidic amino acids. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18200002/ "DO"] synonym: "DCBXA" EXACT [] synonym: "Dicarboxylic amino aciduria" EXACT [] synonym: "Dicarboxylicamino Aciduria" EXACT [] synonym: "dicarboxylicaminoaciduria" EXACT [] synonym: "Glutamate and aspartate transport defect" EXACT [] synonym: "glutamate-aspartate transport defect" EXACT [] synonym: "inborn error of glutamic and aspartate transport" EXACT [] xref: GARD:1855 xref: MESH:C536171 xref: ORDO:2195 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:9002207 ! Renal Aminoacidurias is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060651 name: MYH-9 related disease alt_id: MIM:155100 alt_id: OMIA:001608 def: "A blood platelet disease that has_material_basis_in mutations in the MYH9 gene. It is characterized by thrombocytopenia, enlarged platelets, sensorineural hearing loss and presenile cataract. (DO)" [https://ghr.nlm.nih.gov/condition/myh9-related-disorder "DO", https://www.ncbi.nlm.nih.gov/pubmed/21567368 "DO"] synonym: "Alport syndrome with leukocyte inclusions and macrothrombocytopenia" EXACT [] synonym: "Alport syndrome with macrothrombocytopenia" EXACT [] synonym: "APSM" EXACT [] synonym: "autosomal dominant MYH9 spectrum disorders" EXACT [] synonym: "BDPLT6" EXACT [] synonym: "bleeding disorder, platelet-type, 6" EXACT [] synonym: "Brodie Chole Griffin syndrome" EXACT [] synonym: "Dohle leukocyte inclusions with giant platelets" EXACT [] synonym: "Epstein syndrome" EXACT [] synonym: "EPSTNS" EXACT [] synonym: "Fechtner's syndrome" EXACT [] synonym: "Fechtner syndrome" EXACT [] synonym: "FTNS" EXACT [] synonym: "macrothrombocytopathy, nephritis, and deafness" EXACT [] synonym: "Macrothrombocytopathy, nephritis, deafness, and leukocyte inclusions" EXACT [] synonym: "MACROTHROMBOCYTOPENIA AND GRANULOCYTE INCLUSIONS WITH OR WITHOUT NEPHRITIS OR SENSORINEURAL HEARING LOSS" EXACT [] synonym: "Macrothrombocytopenia and Progressive Sensorineural Deafness" EXACT [] synonym: "macrothrombocytopenia, nephritis, and deafness" EXACT [] synonym: "macrothrombocytopenia, nephritis, deafness, and leukocyte inclusions" EXACT [] synonym: "macrothrombocytopenia, progressive deafness" EXACT [] synonym: "macrothrombocytopenia with dispersed leukocytic inclusions" EXACT [] synonym: "macrothrombocytopenia with leukocyte inclusions" EXACT [] synonym: "MATINS" EXACT [] synonym: "May-Hegglin anomaly" EXACT [] synonym: "MHA" EXACT [] synonym: "MYH9 gene-related autosomal macrothrombocytopenias" EXACT [] synonym: "MYH9RD" EXACT [] synonym: "MYH9-RELATED CONDITION" BROAD [] synonym: "MYH9-related disorder" EXACT [] synonym: "MYH9-related disorders" EXACT [] synonym: "MYH9-related macrothrombocytopenias" EXACT [] synonym: "SBS" EXACT [] synonym: "Sebastian platelet syndrome" EXACT [] synonym: "Sebastian syndrome" EXACT [] xref: EFO:0009646 xref: MESH:C535507 xref: MESH:C537831 xref: NCI:C158788 xref: ORDO:182050 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0060652 name: familial erythrocytosis 1 alt_id: MIM:133100 def: "A primary polycythemia that has_material_basis_in mutation in the gene encoding the erythropoietin receptor. It is characterized by increased serum red blood cell mass and hemoglobin concentration, hypersensitivity of erythroid progenitors to EPO, and low serum levels of EPO. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9292543 "DO"] synonym: "autosomal dominant benign erythrocytosis" EXACT [] synonym: "benign familial polycythemia" EXACT [] synonym: "congenital erythrocytosis" EXACT [] synonym: "ECYT1" EXACT [] synonym: "hereditary erythrocytosis" EXACT [] synonym: "PFCP" EXACT [] synonym: "primary familial and congenital polycythemia" EXACT [] synonym: "primary familial polycythemia" EXACT [] xref: ICD10CM:D75.0 xref: MESH:C536842 xref: ORDO:90042 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0060653 name: lethal congenital contracture syndrome 3 alt_id: MIM:611369 def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the PIP5K1C gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17701898 "DO"] synonym: "LCCS3" EXACT [] synonym: "multiple contractural syndrome, Israeli Bedouin type B" EXACT [] synonym: "multiple contracture syndrome, Israeli Bedouin type B" EXACT [] xref: MESH:C566961 xref: ORDO:137783 is_a: DOID:0060558 ! lethal congenital contracture syndrome is_a: DOID:767 ! muscular atrophy is_a: DOID:9006836 ! Contracture [Term] id: DOID:0060654 name: lethal congenital contracture syndrome 4 def: "A lethal congenital contracture syndrome that has_material_basis_in homozygous mutation in the MYBPC1 gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22610851 "DO"] synonym: "LCCS4" EXACT [] xref: GARD:12645 xref: MIM:614915 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:0060655 name: autosomal recessive congenital ichthyosis alt_id: DOID:1699 def: "An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. (DO)" [https://ghr.nlm.nih.gov/condition/nonbullous-congenital-ichthyosiform-erythroderma#inheritance "DO", https://www.ncbi.nlm.nih.gov/books/NBK1420/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20643494 "DO"] synonym: "alligator skin" EXACT [] synonym: "ARCI" EXACT [] synonym: "congenital ichthyosiform erythroderma" EXACT [] synonym: "congenital ichthyosiform erythroderma, dry type" EXACT [] synonym: "congenital ichthyosiform erythrodermas" EXACT [] synonym: "congenital ichthyosiform erythroderma, wet type" EXACT [] synonym: "CONGENITAL ICHTHYOSIS OF SKIN" BROAD [] synonym: "congenital non bullous ichthyosiform erythroderma" EXACT [] synonym: "congenital nonbullous ichthyosiform erythroderma" EXACT [] synonym: "ichthyosiform erythroderma" EXACT [] synonym: "lamellar desquamation of the newborn" RELATED [] synonym: "lamellar ichthyose" EXACT [] synonym: "lamellar ichthyoses" EXACT [] synonym: "lamellar ichthyosis" EXACT [] synonym: "nonbullous congenital lamellar ichthyosis" EXACT [] synonym: "nonbullous erythroderma ichthyosiforme" EXACT [] xref: MESH:D016113 xref: MIM:PS242300 xref: NCI:C84805 xref: ORDO:281097 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1697 ! ichthyosis is_a: DOID:9007168 ! Genetic Skin Diseases created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060656 name: autosomal recessive congenital ichthyosis 1 alt_id: MIM:242300 alt_id: OMIA:000546 def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7824952 "DO"] synonym: "ARCI1" EXACT [] synonym: "AUTOSOMAL RECESSIVE CONGENITAL ICHTHYOSIS TYPE 1" EXACT [] synonym: "bathing suit ichthyosis" EXACT [] synonym: "collodion baby syndrome" EXACT [] synonym: "collodion baby syndromes" EXACT [] synonym: "collodion fetus" EXACT [] synonym: "desquamation of newborn" EXACT [] synonym: "ichthyosis congenita" EXACT [] synonym: "ichthyosis congenita I" EXACT [] synonym: "Ichthyosis Congenita II" EXACT [] synonym: "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 1, WITH BATHING SUIT DISTRIBUTION" EXACT [] synonym: "Ichthyosis, Lamellar, 1" EXACT [] synonym: "Ichthyosis, TGM1-related" EXACT [] synonym: "ICR2" EXACT [] synonym: "Lamellar Exfoliation of Newborn" EXACT [] synonym: "lamellar ichthyosis type 1" EXACT [] synonym: "LI1" EXACT [] synonym: "newborn desquamation" EXACT [] synonym: "newborn desquamations" EXACT [] synonym: "newborn lamellar exfoliation" EXACT [] synonym: "newborn lamellar exfoliations" EXACT [] synonym: "self-healing collodion baby" EXACT [] synonym: "SHCB" EXACT [] xref: GARD:3170 xref: MESH:D017490 xref: ORDO:100976 xref: ORDO:281122 xref: ORDO:313 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060668 name: anencephaly def: "A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. (DO)" [https://en.wikipedia.org/wiki/Anencephaly "DO", https://ghr.nlm.nih.gov/condition/anencephaly "DO"] synonym: "anencephalia" EXACT [] synonym: "anencephalias" EXACT [] synonym: "anencephalus" EXACT [] synonym: "ANPH" EXACT [] synonym: "aprosencephalies" EXACT [] synonym: "Aprosencephaly" EXACT [] synonym: "brain congenital absence" EXACT [] synonym: "congenital absence of brain" EXACT [] synonym: "hemicranial anencephaly" EXACT [] synonym: "incomplete anencephaly" EXACT [] synonym: "partial anencephalies" EXACT [] synonym: "partial anencephaly" EXACT [] xref: GARD:5808 xref: ICD10CM:Q00.0 xref: MESH:D000757 xref: MIM:PS206500 xref: NCI:C84560 xref: ORDO:1048 is_a: DOID:0080074 ! neural tube defect is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9004061 ! Abnormalities, Severe Teratoid [Term] id: DOID:0060669 name: cerebral cavernous malformation def: "A cerebrovascular disease that is characterized by dilated blood-filled capillaries lacking structural support. (DO)" [http://hmg.oxfordjournals.org/content/18/5/919.long "DO", https://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation "DO"] synonym: "brain cavernous hemangioma" EXACT [] synonym: "brain cavernous hemangiomas" EXACT [] synonym: "CAM" EXACT [] synonym: "Cavernous Angioma, Central Nervous System" EXACT [] synonym: "Cavernous Angiomatous Malformation" EXACT [] synonym: "cavernous angiomatous malformations" EXACT [] synonym: "cavernous hemangioma, central nervous system" EXACT [] synonym: "Cavernous Hemangioma of Brain" EXACT [] synonym: "CAVERNOUS MALFORMATIONS OF CNS AND RETINA" NARROW [] synonym: "CCM" EXACT [] synonym: "Cerebral Capillary Malformation" EXACT [] synonym: "cerebral capillary malformations" EXACT [] synonym: "Cerebral Cavernous Hemangioma" EXACT [] synonym: "cerebral cavernous hemangiomas" EXACT [] synonym: "cerebral cavernous malformations" EXACT [] synonym: "extracerebral cavernous hemangioma" EXACT [] synonym: "extracerebral cavernous hemangiomas" EXACT [] synonym: "familial cavernous angioma" EXACT [] synonym: "familial cavernous angiomas" EXACT [] synonym: "familial cavernous malformation" EXACT [] synonym: "familial cavernous malformations" EXACT [] synonym: "HYPERKERATOTIC CUTANEOUS CAPILLARY-VENOUS MALFORMATIONS ASSOCIATED WITH CEREBRAL CAPILLARY MALFORMATIONS" NARROW [] synonym: "intracerebral cavernous hemangioma" EXACT [] synonym: "intracerebral cavernous hemangiomas" EXACT [] xref: EFO:1001343 xref: MESH:D020786 xref: MIM:PS116860 xref: NCI:C84626 is_a: DOID:483 ! cavernous hemangioma is_a: DOID:501 ! central nervous system hemangioma is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9003443 ! Central Nervous System Vascular Malformations [Term] id: DOID:0060670 name: cerebral cavernous malformation 2 alt_id: MIM:603284 def: "A cerebral cavernous malformation that has_material_basis_in mutation in the CCM2 gene on chromosome 7p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14624391 "DO"] synonym: "CCM2" EXACT [] synonym: "cerebral cavernous malformations 2" EXACT [] xref: MESH:C566394 xref: ORDO:221061 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0060671 name: cerebral cavernous malformation 3 alt_id: MIM:603285 def: "A cerebral cavernous malformation that has_material_basis_in mutation in the PDCD10 gene on chromosome 3q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15543491 "DO"] synonym: "CCM3" EXACT [] synonym: "cerebral cavernous malformations 3" EXACT [] xref: ICD10CM:Q28.3 xref: MESH:C566393 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0060672 name: GRN-related frontotemporal lobar degeneration with TDP43 inclusions def: "A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16862116 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16983677 "DO"] synonym: "frontotemporal dementia 2" EXACT [] synonym: "FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED" EXACT [] synonym: "frontotemporal lobar degeneration with ubiquitin positive inclusions" EXACT [] synonym: "FTD2" EXACT [] synonym: "FTD-GRN" EXACT [] synonym: "FTD-PGRN" EXACT [] synonym: "FTDU" EXACT [] synonym: "FTLD-TDP, GRN-related" EXACT [] synonym: "FTLDU" EXACT [] synonym: "FTLD with TDP 43 Pathology" EXACT [] synonym: "GRN Related Frontotemporal Dementia" EXACT [] synonym: "GRN-Related Frontotemporal Dementias" EXACT [] synonym: "HDDD aphasia, primary progressive" NARROW [] synonym: "hereditary dysphasic disinhibition dementia" EXACT [] synonym: "PPA" NARROW [] synonym: "ubiquitin-positive frontotemporal dementia" EXACT [] xref: ICD10CM:G31.0 xref: MIM:607485 xref: MONDO:0011842 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:0060673 name: Peters anomaly def: "A corneal disease characterized by a central corneal leukoma and absence of the posterior corneal stroma and Descemet membrane that has_material_basis_in mutation in the PAX6 gene on chromosome 11p13, the PITX2 gene on chromosome 4q25, the CYP1B1 gene on chromosome 2p22.2, or the FOXC1 gene on chromosome 6p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11403040 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12614756 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8162071 "DO"] synonym: "irido-corneo-trabecular dysgenesis" NARROW [] xref: GARD:7377 xref: ICD10CM:Q13.4 xref: MESH:C537884 xref: ORDO:708 is_a: DOID:0080610 ! anterior segment dysgenesis 5 is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:0060674 name: catecholaminergic polymorphic ventricular tachycardia def: "A heart conduction disease characterized by adrenergically induced ventricular tachycardia manifesting as syncope and sudden death during exercise, stress or catecholamine infusion without the presence of structural cardiac abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1289 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17875969 "DO"] synonym: "bidirectional tachycardia induced by catecholamines" EXACT [] synonym: "catecholamine-induced polymorphic ventricular tachycardia" EXACT [] synonym: "stress-induced polymorphic ventricular tachycardia" RELATED [] synonym: "VTSIP" RELATED [] xref: EFO:0004692 xref: MESH:C536334 xref: MIM:PS604772 xref: ORDO:3286 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:9005141 ! Ventricular Tachycardia [Term] id: DOID:0060675 name: catecholaminergic polymorphic ventricular tachycardia 1 alt_id: DOID:0110071 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the RYR2 gene on chromosome 1q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12093772 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17875969 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 2" EXACT [] synonym: "arrhythmogenic right ventricular cardiomyopathy type 2" EXACT [] synonym: "arrhythmogenic right ventricular dysplasia 2" EXACT [] synonym: "ARVC2" EXACT [] synonym: "ARVD2" EXACT [] synonym: "catecholaminergic polymorphic ventricular tachycardia 1, with or without atrial dysfunction and/or dilated cardiomyopathy" EXACT [] synonym: "catecholaminergic polymorphic ventricular tachycardia type 1" EXACT [] synonym: "CPVT1" EXACT [] synonym: "CVPT1" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT [] synonym: "RYR2-RELATED CONDITION" BROAD [] synonym: "stress-induced polymorphic ventricular tachycardia 1" EXACT [] synonym: "VTSIP1" EXACT [] xref: MESH:C563409 xref: MIM:604772 xref: MONDO:0011484 xref: NCI:C123414 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0060676 name: catecholaminergic polymorphic ventricular tachycardia 2 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the CASQ2 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11401939 "DO"] synonym: "CPVT2" EXACT [] synonym: "CVPT2" EXACT [] synonym: "ventricular tachycardia, stress-induced polymorphic 2" EXACT [] synonym: "VTSIP2" EXACT [] xref: ICD10CM:I47.2 xref: MIM:611938 xref: MONDO:0012762 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060677 name: catecholaminergic polymorphic ventricular tachycardia 3 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by early onset mortality and has_material_basis_in variation in the chromosomal region 7p22-p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17666061 "DO"] synonym: "CPVT3" EXACT [] synonym: "CVPT3" EXACT [] synonym: "TECRL-RELATED CONDITION" EXACT [] xref: MIM:614021 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060678 name: catecholaminergic polymorphic ventricular tachycardia 4 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CALM1 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23040497 "DO"] synonym: "CPVT4" EXACT [] synonym: "CVPT4" EXACT [] xref: MIM:614916 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia [Term] id: DOID:0060679 name: catecholaminergic polymorphic ventricular tachycardia 5 def: "A catecholaminergic polymorphic ventricular tachycardia that is characterized by autosomal recessive inheritance and has_material_basis_in homozygous or compound heterozygous mutation in the TRDN gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22422768 "DO"] synonym: "CARDAR" EXACT [] synonym: "cardiac arrhythmia syndrome, with or without skeletal muscle weakness" EXACT [] synonym: "catecholaminergic polymorphic ventricular tachycardia 5, with or without muscle weakness" EXACT [] synonym: "CPVT5" EXACT [] synonym: "CVPT5" EXACT [] xref: MIM:615441 is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia is_a: DOID:9005532 ! Muscle Weakness [Term] id: DOID:0060680 name: pigment dispersion syndrome alt_id: MIM:600510 def: "An eye disease characterized by slit-like depigmented areas of the iris with up to 50% of patients going on to develop glaucoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10192392 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3947295 "DO"] synonym: "glaucoma-related pigment dispersion syndrome" EXACT [] synonym: "GPDS1" EXACT [] synonym: "PDS" EXACT [] synonym: "pigment-dispersion type glaucoma" EXACT [] xref: MESH:C563184 xref: MONDO:0010896 is_a: DOID:1067 ! open-angle glaucoma is_a: DOID:225 ! syndrome [Term] id: DOID:0060681 name: autosomal dominant nocturnal frontal lobe epilepsy def: "A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7895015 "DO"] synonym: "Adnfle" EXACT [] synonym: "autosomal dominant epilepsy" EXACT [] synonym: "ENFL" EXACT [] synonym: "nocturnal epilepsy, frontal lobe type" EXACT [] synonym: "nocturnal frontal lobe epilepsy" EXACT [] xref: GARD:11918 xref: MESH:C579932 xref: MIM:PS600513 xref: ORDO:98784 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3331 ! frontal lobe epilepsy [Term] id: DOID:0060682 name: autosomal dominant nocturnal frontal lobe epilepsy 1 alt_id: MIM:600513 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7550350 "DO"] synonym: "CHRNA4-RELATED CONDITION" BROAD [] synonym: "ENFL1" EXACT [] synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, 1" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 1" EXACT [] xref: MESH:C563930 xref: RDO:0013054 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060683 name: autosomal dominant nocturnal frontal lobe epilepsy 2 alt_id: MIM:603204 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9758605 "DO"] synonym: "ENFL2" EXACT [] synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, 2" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 2" EXACT [] xref: MESH:C566400 xref: RDO:0014765 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060684 name: autosomal dominant nocturnal frontal lobe epilepsy 3 alt_id: RDO:0014001 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11062464 "DO"] synonym: "ENFL3" EXACT [] synonym: "EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3" EXACT [] synonym: "nocturnal frontal lobe epilepsy 3" EXACT [] xref: MESH:C565334 xref: MIM:605375 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060685 name: autosomal dominant nocturnal frontal lobe epilepsy 4 alt_id: MIM:610353 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16826524 "DO"] synonym: "ENFL4" EXACT [] synonym: "familial epilepsy with nocturnal wandering and ictal fear" EXACT [] synonym: "nocturnal frontal lobe epilepsy 4" EXACT [] synonym: "nocturnal frontal lobe epilepsy type 4" EXACT [] xref: MESH:C563679 is_a: DOID:0060169 ! benign familial infantile epilepsy is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy is_a: DOID:9007418 ! Somnambulism [Term] id: DOID:0060686 name: autosomal dominant nocturnal frontal lobe epilepsy 5 def: "An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23086396 "DO"] synonym: "ENFL5" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, 5" EXACT [] synonym: "Epilepsy, Nocturnal Frontal Lobe, Type 5" EXACT [] xref: MIM:615005 xref: RDO:9000290 is_a: DOID:0060681 ! autosomal dominant nocturnal frontal lobe epilepsy [Term] id: DOID:0060688 name: arteriovenous malformations of the brain alt_id: MIM:108010 def: "A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7193302 "DO"] synonym: "BAVM" EXACT [] synonym: "Cerebral Arteriovenous Malformation" EXACT [] synonym: "cerebral arteriovenous malformations" EXACT [] synonym: "CEREBRAL ARTERIOVENOUS MALFORMATIONS INTRACRANIAL HEMORRHAGE IN BRAIN ARTERIOVENOUS MALFORMATIONS, SUSCEPTIBILITY TO" NARROW [] synonym: "congenital intracranial arteriovenous malformations" EXACT [] synonym: "intracranial arteriovenous malformation" EXACT [] synonym: "intracranial arteriovenous malformations" EXACT [] synonym: "intracranial AVM (arteriovenous malformation)" EXACT [] synonym: "ruptured intracranial arteriovenous malformation" EXACT [] xref: EFO:0003916 xref: ICD10CM:Q28.2 xref: MESH:D002538 xref: MONDO:0007154 xref: ORDO:46724 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:11294 ! arteriovenous malformation is_a: DOID:13089 ! intracranial arterial disease is_a: DOID:9003443 ! Central Nervous System Vascular Malformations [Term] id: DOID:0060689 name: atrichia with papular lesions alt_id: MIM:209500 def: "An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10205263 "DO"] synonym: "APL" EXACT [] synonym: "papular atrichia" EXACT [] xref: ICD10CM:L65.8 xref: MESH:C565924 xref: ORDO:86819 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:987 ! alopecia [Term] id: DOID:0060690 name: autosomal dominant auditory neuropathy 1 alt_id: MIM:609129 def: "An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15520414 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20624953 "DO"] synonym: "auditory neuropathy, nonsyndromic dominant" EXACT [] synonym: "AUNA1" EXACT [] synonym: "DIAPH3-RELATED CONDITION" EXACT [] synonym: "NSDAN" EXACT [] xref: MESH:C563790 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:9001890 ! Auditory Neuropathy [Term] id: DOID:0060691 name: platelet-type bleeding disorder 16 alt_id: MIM:187800 def: "A blood platelet disease characterized by autosomal dominant inheritance with macrothrombocytopenia, platelet anisocytosis, prolonged bleeding time but only mildly increased bleeding tendency that has_material_basis_in heterozygous mutation in the ITGA2B gene on chromosome 17q21.31 or the ITGB3 gene on chromosome 17q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18065693 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21454453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9834222 "DO"] synonym: "autosomal dominant Glanzmann thrombasthenia" EXACT [] synonym: "autosomal dominant thrombasthenia of Glanzmann and Naegeli" EXACT [] synonym: "BDPLT16" EXACT [] synonym: "Glanzmann thrombasthenia-like with macrothromocytopenia 1" EXACT [] xref: MESH:C566061 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2219 ! Glanzmann's thrombasthenia [Term] id: DOID:0060692 name: platelet-type bleeding disorder 8 alt_id: MIM:609821 alt_id: OMIA:001564 def: "A blood platelet disease characterized by mild to moderate mucocutaneous bleeding and absence of adenosine phosphate induced platelet aggregation that has_material_basis_in homozygous or compound heterozygous mutation in the P2RY12 gene on chromosome 3q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11196645 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20966167 "DO"] synonym: "ADP platelet receptor P2Y12 defect" EXACT [] synonym: "BDPLT8" EXACT [] synonym: "bleeding disorder due to P2RY12 defect" EXACT [] synonym: "bleeding disorder, P2RY12" EXACT [] synonym: "bleeding disorder, P2RY12-related" EXACT [] synonym: "IMPAIRED ADP-INDUCED PLATELET AGGREGATION" EXACT [] synonym: "P2Y12 defect" EXACT [] xref: MESH:C565220 xref: ORDO:36355 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0060693 name: Brunner syndrome def: "An amino acid metabolic disorder characterized by recessive X-linked inhetiance, impaired monoamine metabolism, impulsive aggressiveness and mild mental retardation that has_material_basis_in mutation in the MAOA gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8211186 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8503438 "DO"] synonym: "ANTISOCIAL BEHAVIOR, SUSCEPTIBILITY TO" NARROW [] synonym: "BRNRS" EXACT [] synonym: "MAOA-RELATED CONDITION" EXACT [] synonym: "monoamine oxidase A deficiency" EXACT [] xref: ICD10CM:E70.8 xref: MESH:C563156 xref: MIM:300615 xref: MONDO:0010379 xref: ORDO:3057 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10937 ! impulse control disorder is_a: DOID:225 ! syndrome is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0060694 name: Cayman type cerebellar ataxia alt_id: MIM:601238 def: "An autosomal recessive cerebellar ataxia characterized by marked autosomal recessive inheritance, psychomotor retardation, cerebellar dysfunction including nystagmus, intention tremor, dysarthria, and wide-based ataxic gait, hypotonia and the absence of retinal abnormalities that has_material_basis_in mutation in the ATCAY gene on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14556008 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8845847 "DO"] synonym: "ATCAY" EXACT [] synonym: "Cayman ataxia" EXACT [] synonym: "Cayman cerebellar ataxia" EXACT [] xref: ICD10CM:G11.0 xref: MESH:C563363 xref: ORDO:94122 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0060695 name: hyperekplexia alt_id: OMIA:001594 def: "A nervous system disease characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli and hypertonia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12427512 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1334371 "DO"] synonym: "congenital stiff man syndrome" EXACT [] synonym: "exagerrated startle reflex" EXACT [] synonym: "exaggerated startle reaction" EXACT [] synonym: "hyperekplexias" EXACT [] synonym: "Kok disease" EXACT [] synonym: "startle disease" EXACT [] synonym: "STHE" EXACT [] xref: GARD:3129 xref: MESH:D000071017 xref: MIM:PS149400 is_a: DOID:331 ! central nervous system disease is_a: DOID:9001480 ! Muscle Rigidity [Term] id: DOID:0060696 name: hyperekplexia 1 def: "A hyperekplexia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the GLRA1 gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7881416 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8298642 "DO"] synonym: "GLRA1-RELATED CONDITION" EXACT [] synonym: "hereditary hyperekplexia 1" EXACT [] synonym: "HKPX1" EXACT [] xref: MIM:149400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060697 name: hyperekplexia 2 def: "A hyperekplexia that has_material_basis_in compound heterozygous or homozygous mutation in the GLRB gene on chromosome 4q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11929858 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21391991 "DO"] synonym: "GLRB-RELATED CONDITION" EXACT [] synonym: "HKPX2" EXACT [] xref: ICD10CM:G25.8 xref: MIM:614619 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia [Term] id: DOID:0060698 name: hyperekplexia 3 def: "A hyperekplexia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A5 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16751771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22700964 "DO"] synonym: "HKPX3" EXACT [] xref: MIM:614618 xref: ORDO:3197 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia [Term] id: DOID:0060699 name: familial hypocalciuric hypercalcemia def: "A hypercalcemia characterized by autosomal dominant inheritance with elevation of serum calcium levels and decreased urinary calcium excretion. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19809483 "DO"] synonym: "familial benign hypercalcemia" EXACT [] synonym: "familial benign hypocalciuric hypercalcemia" EXACT [] synonym: "FBH" EXACT [] synonym: "FBHH" EXACT [] synonym: "FHH" EXACT [] synonym: "NEPHROLITHIASIS/NEPHROCALCINOSIS" NARROW [] xref: GARD:10828 xref: MIM:PS145980 xref: NCI:C123262 xref: ORDO:405 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12678 ! hypercalcemia is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060700 name: familial hypocalciuric hypercalcemia 1 alt_id: MIM:145980 alt_id: RDO:0002925 def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous loss-of-function mutations in the CASR gene on chromosome 3q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7916660 "DO"] synonym: "familial benign hypercalcemia 1" EXACT [] synonym: "familial benign hypercalcemia type 1" EXACT [] synonym: "familial hypocalciuric hypercalcemia, type 1" EXACT [] synonym: "familial hypocalciuric hypercalcemia, type I" EXACT [] synonym: "FBH1" EXACT [] synonym: "FHH1" EXACT [] synonym: "FHH type 1" EXACT [] synonym: "HHC1" EXACT [] synonym: "hypocalciuric hypercalcemia type I" EXACT [] xref: ICD10CM:E83.5 xref: MESH:C537145 xref: ORDO:93372 is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia [Term] id: DOID:0060701 name: familial hypocalciuric hypercalcemia 2 alt_id: MIM:145981 def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the GNA11 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23802516 "DO"] synonym: "familial benign hypercalcemia, type 2" EXACT [] synonym: "familial benign hypercalcemia, type II" EXACT [] synonym: "familial hypocalciuric hypercalcemia type 2" EXACT [] synonym: "familial hypocalciuric hypercalcemia, type II" EXACT [] synonym: "FBH2" EXACT [] synonym: "FHH type 2" EXACT [] synonym: "HHC2" EXACT [] synonym: "hypocalciuric hypercalcemia type II" EXACT [] xref: GARD:9758 xref: MESH:C537146 xref: ORDO:101049 is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia [Term] id: DOID:0060702 name: familial hypocalciuric hypercalcemia 3 alt_id: MIM:600740 def: "A familial hypocalciuric hypercalcemia that has_material_basis_in heterozygous mutation in the AP2S1 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23222959 "DO"] synonym: "familial benign hypercalcemia, Oklahoma type" EXACT [] synonym: "familial benign hypercalcemia, Oklahoma variant" EXACT [] synonym: "familial benign hypercalcemia, type III" EXACT [] synonym: "familial hypocalciuric hypercalcemia type 3" EXACT [] synonym: "familial hypocalciuric hypercalcemia type III" EXACT [] synonym: "FBH3" EXACT [] synonym: "FHH type 3" EXACT [] synonym: "HHC3" EXACT [] synonym: "hypocalciuric hypercalcemia type III" EXACT [] xref: GARD:2878 xref: MESH:C537147 xref: ORDO:101050 is_a: DOID:0060699 ! familial hypocalciuric hypercalcemia [Term] id: DOID:0060703 name: Muenke syndrome alt_id: MIM:602849 def: "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18000976 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9042914 "DO"] synonym: "FGFR3-associated coronal synostosis" EXACT [] synonym: "FGFR3-related craniosynostosis" EXACT [] synonym: "MNKES" EXACT [] synonym: "Muenke nonsyndromic coronal craniosynostosis" EXACT [] synonym: "syndrome of coronal craniosynostosis" EXACT [] xref: GARD:7097 xref: MESH:C537369 xref: NCI:C84904 xref: ORDO:53271 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:0060704 name: lymphoproliferative syndrome def: "A primary immunodeficiency disease characterized by immune dysregulation typically after viral infection, usually associated with Epstein-Barr viral infection. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/198660 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22197273 "DO"] synonym: "Combined immunodeficiency due to ITK deficiency" EXACT [] synonym: "Duncan's syndrome" EXACT [] synonym: "Duncan disease" EXACT [] synonym: "EBV infection, severe, susceptibility to" RELATED [] synonym: "EBVS" EXACT [] synonym: "Epstein Barr Virus Induced Lymphoproliferative Disease In Males" EXACT [] synonym: "Epstein Barr Virus Infection, Familial Fatal" EXACT [] synonym: "Familial Fatal Epstein Barr Infection" EXACT [] synonym: "IMD5" EXACT [] synonym: "Immunodeficiency 5" EXACT [] synonym: "Immunodeficiency, X Linked Progressive Combined Variable" EXACT [] synonym: "INFECTIOUS MONONUCLEOSIS, SEVERE, SUSCEPTIBILITY TO" EXACT [] synonym: "Lymphoproliferative Disorder" EXACT [] synonym: "lymphoproliferative disorders" EXACT [] synonym: "Lymphoproliferative disorders, susceptibility to" RELATED [] synonym: "LYP" EXACT [] synonym: "Purtilo Syndrome" EXACT [] synonym: "Purtilo Syndromes" EXACT [] synonym: "X Linked Lymphoproliferative Disease" EXACT [] synonym: "X-linked lymphoproliferative diseases" EXACT [] synonym: "X-linked lymphoproliferative disorder" EXACT [] synonym: "X-linked lymphoproliferative disorders" EXACT [] synonym: "X-linked lymphoproliferative syndrome" EXACT [] synonym: "X-linked lymphoproliferative syndromes" EXACT [] synonym: "XLP" EXACT [] synonym: "XLPD" EXACT [] xref: MESH:D008232 xref: MIM:PS308240 xref: ORDO:538963 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:75 ! lymphatic system disease is_a: DOID:9008463 ! Immunoproliferative Disorders [Term] id: DOID:0060705 name: X-linked lymphoproliferative syndrome 1 def: "A lymphoproliferative syndrome characterized by severe immune dysregulation after viral infection that may manifest as severe or fatal mononucleosis, acquired hypogammaglobulinema, hemophagocytic lymphohistiocytosis, and/or malignant lymphoma and that has_material_basis_in X-linked mutation in the SH2D1A gene on chromosome Xq25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6283885 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9771704 "DO"] synonym: "SH2D1A-RELATED CONDITION" EXACT [] synonym: "XLP1" EXACT [] xref: GARD:7906 xref: MIM:308240 xref: NCI:C170434 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:0080012 ! X-linked recessive disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060706 name: X-linked lymphoproliferative syndrome 2 alt_id: MIM:300635 def: "A lymphoproliferative syndrome characterized by X-linked inheritance, immune dysregulation after viral infect that may include lymphohystiocytosis, hypogammaglobulinemia and/or splenomegaly and that has_material_basis_in mutation in the XIAP gene on chromosome Xq25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17080092 "DO"] synonym: "XIAP deficiency" EXACT [] synonym: "XLP2" EXACT [] xref: GARD:10916 xref: ICD10CM:D82.3 xref: MESH:C564469 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060707 name: lymphoproliferative syndrome 1 def: "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, early childhood onset of Epstein-Barr virus-associated immune dysregulation typically manifesting as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and-or hypogammaglobulinemia and that has_material_basis_in homozygous mutation in the ITK gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19425169 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21109689 "DO"] synonym: "EBV-associated lymphoproliferative syndrome, autosomal 1" EXACT [] synonym: "LPFS1" EXACT [] xref: MESH:C567815 xref: MIM:613011 xref: MONDO:0013081 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0060708 name: lymphoproliferative syndrome 2 alt_id: RDO:9000525 def: "A lymphoproliferative syndrome characterized by autosomal recessive inheritance, persistent symptomatic Epstein-Barr virus-associated viremia, hypogammaglobulinemia, and impairment in specific antibody function and that has_material_basis_in homozygous mutation in the CD27 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22197273 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22801960 "DO"] synonym: "CD27 deficiency" EXACT [] synonym: "LPFS2" EXACT [] xref: ICD10CM:D47.9 xref: MIM:615122 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0060710 name: autosomal recessive congenital ichthyosis 2 alt_id: MIM:242100 def: "An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11773004 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16116617 "DO"] synonym: "ALOX12B-RELATED CONDITION" EXACT [] synonym: "ARCI2" EXACT [] synonym: "COLLODION BABY, SELF-HEALING" EXACT [] synonym: "ichthyosiform erythroderma, BROCQ congenital, nonbullous form" EXACT [] synonym: "NCIE1" EXACT [] synonym: "Nonbullous congenital ichthyosiform erythroderma 1" EXACT [] xref: MESH:C538603 xref: NCI:C132827 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060711 name: autosomal recessive congenital ichthyosis 3 def: "An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11398099 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11773004 "DO"] synonym: "ARCI3" EXACT [] synonym: "COLLODION BABY, SELF-HEALING" EXACT [] synonym: "lamellar ichthyosis 5" EXACT [] synonym: "lamellar ichthyosis type 5" EXACT [] synonym: "LI5" EXACT [] xref: MESH:C564699 xref: MIM:606545 xref: MONDO:0011680 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060712 name: autosomal recessive congenital ichthyosis 4A alt_id: MIM:601277 def: "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10094194 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20672373 "DO"] synonym: "ARCI4A" EXACT [] synonym: "Ichthyosis congenita 2B" EXACT [] synonym: "ichthyosis congenita IIB" EXACT [] synonym: "ICR2B" EXACT [] synonym: "lamellar ichthyosis 2" EXACT [] synonym: "lamellar ichthyosis, type 2" EXACT [] synonym: "LI2" EXACT [] xref: MESH:C537264 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060713 name: autosomal recessive congenital ichthyosis 4B alt_id: MIM:242500 def: "An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. (DO)" [https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/21339420 "DO"] synonym: "ARCI4B" EXACT [] synonym: "harlequin baby syndrome" EXACT [] synonym: "harlequin fetus" EXACT [] synonym: "harlequin ichthyoses" EXACT [] synonym: "harlequin ichthyosis" EXACT [] synonym: "harlequin type ichthyosis" EXACT [] synonym: "harlequin type ichthyosis congenita" EXACT [] synonym: "harlequin type ichthyosis fetalis" EXACT [] synonym: "HI" EXACT [] synonym: "ichthyosis congenita, harlequin fetus type" EXACT [] synonym: "ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4B (HARLEQUIN)" EXACT [] xref: ICD10CM:Q80.4 xref: MESH:C538424 xref: NCI:C98934 xref: ORDO:457 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060714 name: autosomal recessive congenital ichthyosis 5 alt_id: MESH:C565749 alt_id: MIM:604777 def: "An autosomal recessive congenital ichthyosis characterized by fine white or greyish-white scales, hyperkeratosis, moderate acanthosis, and moderate parakeratosis that has_material_basis_in homozygous mutation in the CYP4F22 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10712223 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16436457 "DO"] synonym: "ARCI5" EXACT [] synonym: "autosomal recessive congenital nonlamellar and nonerythrodermic ichthyosis" EXACT [] synonym: "ichthyosis congenita 3" EXACT [] synonym: "ichthyosis congenita III" EXACT [] synonym: "lamellar ichthyosis 3" EXACT [] synonym: "lamellar ichthyosis, type 3" EXACT [] synonym: "LI3" EXACT [] synonym: "NNCI" EXACT [] xref: MESH:C537265 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060715 name: autosomal recessive congenital ichthyosis 6 alt_id: OMIA:001980 def: "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, hyperkeratosis, parakeratosis and moderate acanthosis that has_material_basis_in homozygous or compound heterozygous mutation in the NIPAL4 gene on chromosome 5q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16436457 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17557927 "DO"] synonym: "ARCI6" EXACT [] synonym: "autosomal recessive congenital ichthyosis, NIPAL4-related" EXACT [] synonym: "ichthyosis, NIPAL4-related" EXACT [] xref: ICD10CM:Q80.2 xref: MIM:612281 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060716 name: autosomal recessive congenital ichthyosis 7 def: "An autosomal recessive congenital ichthyosis characterized by fine whitish scales, moderate to severe erythroderma, compact hyperkeratosis, hypergranulosis, acanthosis, and papillomatosis that has_material_basis_in variation in the chromosome region 12p11.2-q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16117785 "DO"] synonym: "ARCI7" EXACT [] xref: MIM:615022 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0060717 name: autosomal recessive congenital ichthyosis 8 def: "An autosomal recessive congenital ichthyosis characterized by diffuse lamellar ichthyosis, slight facial erythema, hyperkeratosis, orthokeratosis, hypergranulosis, and acanthosis that has_material_basis_in homozygous mutation in the LIPN gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21439540 "DO"] synonym: "ARCI8" EXACT [] synonym: "lamellar ichthyosis 4" EXACT [] synonym: "late-onset lamellar ichthyosis" EXACT [] synonym: "LI4" EXACT [] xref: MIM:613943 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060718 name: autosomal recessive congenital ichthyosis 9 def: "An autosomal recessive congenital ichthyosis characterized by fine erythrodermic scales, palmoplantar hyperlinearity, thick orthohyperkeratosis, hypergranulosis, moderate acanthosis and mild alopecia that has_material_basis_in homozygous mutation in the CERS3 gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21093221 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23754960 "DO"] synonym: "ARCI9" EXACT [] xref: MIM:615023 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060719 name: autosomal recessive congenital ichthyosis 10 alt_id: OMIA:001588 def: "An autosomal recessive congenital ichthyosis characterized by generalized ichthyosis, moderade erythroderma, palmoplantar keratoderma and hypergranulosis that has_material_basis_in homozygous mutation in the PNPLA1 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22246504 "DO"] synonym: "ARCI10" EXACT [] synonym: "Ichthyosis, Golden Retriever" NARROW [] synonym: "Ichthyosis, PNPLA1-related" EXACT [] synonym: "PNPLA1-RELATED CONDITION" EXACT [] xref: MIM:615024 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0060720 name: autosomal recessive congenital ichthyosis 11 alt_id: MESH:C536273 def: "An autosomal recessive congenital ichthyosis characterized by ichthyosis, hypotrichosis, photophobia, corneal opacity, pingueculum, blepharitis, marked acanthosis, otrhohyperkeratosis and hyperkeratosis that has_material_basis_in homozygous mutation in the ST14 gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17273967 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18843291 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9450882 "DO"] synonym: "ARCI11" EXACT [] synonym: "ARIH" EXACT [] synonym: "autosomal recessive ichthyosis with hypotrichosis" EXACT [] synonym: "hypotrichosis-congenital ichthyosis syndrome" EXACT [] synonym: "ichthyosis and follicular atrophoderma with hypotrichosis and hypohidrosis" EXACT [] synonym: "ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis" EXACT [] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome" EXACT [] synonym: "ichthyosis-follicular atrophoderma-hypotrichosis syndrome" EXACT [] synonym: "ichthyosis-hypotrichosis syndrome" EXACT [] synonym: "IFAH" EXACT [] synonym: "IFAH syndrome" EXACT [] synonym: "IHS" EXACT [] xref: MIM:602400 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0060728 name: congenital disorder of deglycosylation 1 def: "A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24651605 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27388694 "DO"] synonym: "CDDG" EXACT [] synonym: "CDDG1" EXACT [] synonym: "CDG1V" RELATED [] synonym: "CDG IV" RELATED [] synonym: "CDGIV" RELATED [] synonym: "congenital disorder of glycosylation 1V" RELATED [] synonym: "congenital disorder of glycosylation type Iv" RELATED [] synonym: "deficiency of N-glycanase 1" EXACT [] synonym: "NGLY1-CDDG" EXACT [] synonym: "NGLY1-deficiency" EXACT [] synonym: "NGLY1-related condition" EXACT [] xref: ICD10CM:E77.8 xref: MESH:C000626124 xref: MIM:615273 xref: MONDO:0800044 xref: NCI:C126746 xref: ORDO:404454 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060991 ! congenital disorder of deglycosylation [Term] id: DOID:0060730 name: torsion dystonia 1 alt_id: MIM:128100 def: "A generalized dystomia characterized by autosomal dominant inheritance of dystonia usually presenting initially as focal, typically in the limbs, but often generalizes with age that has_material_basis_in heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11912106 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9288096 "DO"] synonym: "DYSTONIA 1, TORSION, LATE-ONSET" NARROW [] synonym: "DYSTONIA, EARLY-ONSET ATYPICAL, WITH MYOCLONIC FEATURES" NARROW [] synonym: "dystonia musculorum deformans 1" EXACT [] synonym: "dystonia musculorum deformans type 1" EXACT [] synonym: "DYT1" EXACT [] synonym: "early-onset generalized torsion dystonia" EXACT [] synonym: "Early-Onset Primary Dystonia" EXACT [] synonym: "Early onset torsion dystonia" EXACT [] synonym: "EOTD" EXACT [] synonym: "Oppenheim's dystonia" EXACT [] synonym: "Oppenheim dystonia" EXACT [] synonym: "primary torsion dystonia" EXACT [] synonym: "torsion dystonia 1, autosomal dominant" EXACT [] xref: MESH:C538005 xref: NCI:C118780 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0060731 name: congenital central hypoventilation syndrome def: "An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11840487 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12640453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8135282 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696331 "DO"] synonym: "CCHS" EXACT [] synonym: "central hypoventilation syndrome, late-onset" NARROW [] synonym: "congenital central alveolar hypoventilation syndrome" EXACT [] synonym: "congenital central hypoventilation" EXACT [] synonym: "congenital failure of autonomic control" EXACT [] synonym: "congenital Ondine curse" EXACT [] synonym: "idiopathic congenital central alveolar hypoventilation" EXACT [] synonym: "OHD" NARROW [] synonym: "Ondine curse" EXACT [] synonym: "Ondine-Hirschsprung disease" EXACT [] synonym: "Ondine syndrome" EXACT [] synonym: "primary alveolar hypoventilation" EXACT [] xref: EFO:0020025 xref: GARD:8535 xref: ICD10CM:G47.3 xref: MESH:C536209 xref: MIM:PS209880 xref: NCI:C98889 xref: ORDO:661 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:225 ! syndrome is_a: DOID:9003671 ! Hypoventilation is_a: DOID:9220 ! central sleep apnea [Term] id: DOID:0060732 name: chromosome 9p deletion syndrome alt_id: MIM:158170 def: "A chromosomal deletion syndrome characterized by trigonocephaly, flattened occiput midface hypoplasia, long philtrum, prominent forehead, broad flat nasal bridge, anteverted nares, malformed external ears, hypertelorism, hypertonia, delayed psychomotor development and that has_material_basis_in a contiguous gene deletion on the short arm of chromosome 9. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18452192 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4541805 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6985017 "DO"] synonym: "9p syndrome" EXACT [] synonym: "Alfi syndrome" EXACT [] synonym: "chromosome 9, monosomy 9p" EXACT [] synonym: "Monosomy 9p" EXACT [] synonym: "monosomy 9p syndrome" EXACT [] xref: MESH:C538024 xref: ORDO:261112 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0060733 name: junctional epidermolysis bullosa with pyloric atresia alt_id: MIM:226730 alt_id: MIM:619817 def: "A junctional epidermolysis bullosa characterized by generalized blistering at birth with congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract and that has_material_basis_in mutations in the ITGB4 or ITGA6 genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16473856 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7545057 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9185503 "DO"] synonym: "aplasia cutis congenita with gastrointestinal atresia" EXACT [] synonym: "Carmi syndrome" EXACT [] synonym: "EB-PA" EXACT [] synonym: "EB-PA-ACC" EXACT [] synonym: "epidermolysis bullosa junctionalis with pyloric atresia" EXACT [] synonym: "epidermolysis bullosa with pyloric atresia" EXACT [] synonym: "ITGB4-RELATED CONDITION" BROAD [] synonym: "JEB5B" EXACT [] synonym: "JEB6" EXACT [] synonym: "JEB-PA" EXACT [] synonym: "junctional epidermolysis bullosa 5B, with pyloric atresia" EXACT [] synonym: "junctional epidermolysis bullosa 6 with pyloric atresia" EXACT [] synonym: "junctional epidermolysis bullosa-pyloric atresia syndrome" EXACT [] synonym: "junctional epidermolysis bullosa with pyloric atresia and aplasia cutis congenita" EXACT [] xref: ICD10CM:Q81.8 xref: MESH:C535377 xref: NCI:C162474 xref: ORDO:79403 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:3209 ! junctional epidermolysis bullosa [Term] id: DOID:0060735 name: epidermolysis bullosa simplex Dowling-Meara type def: "An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1369/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/1372711 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1717157 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO"] synonym: "EBS-DM" EXACT [] synonym: "EBSDM" EXACT [] synonym: "EBS-gen sev" EXACT [] synonym: "epidermolysis bullosa herpetiformis Dowling Meara" EXACT [] synonym: "epidermolysis bullosa herpetiformis Dowling-Meara type" EXACT [] synonym: "epidermolysis bullosa simplex, Dowling-Meara type, with severe palmoplantar keratoderma" EXACT [] synonym: "epidermolysis bullosa simplex, herpetiformis" EXACT [] synonym: "generalized severe epidermolysis bullosa simplex" EXACT [] xref: ORDO:79396 is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060736 name: epidermolysis bullosa simplex Ogna type alt_id: MIM:131950 def: "An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11851880 "DO"] synonym: "EBS5A" EXACT [] synonym: "EBS-O" EXACT [] synonym: "EBSOG" EXACT [] synonym: "Ebs-Og" EXACT [] synonym: "Epidermolysis bullosa simplex 1" EXACT [] synonym: "epidermolysis bullosa simplex 5A, Ogna type" EXACT [] xref: ICD10CM:Q81.0 xref: MESH:C535962 xref: ORDO:79401 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0060737 name: junctional epidermolysis bullosa Herlitz type def: "A junctional epidermolysis bullosa characterized by autosomal recessive inheritance of severe blisters and extensive erosions, localized to the skin and mucous membranes, resulting in a failure to thrive and that has_material_basis_in mutations in any 1 of the 3 genes encoding the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The Herlitz type is more severe than the related non-Herlitz type of junctional epidermolysis bullosa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8012393 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8586427 "DO"] synonym: "epidermolysis bullosa junctionalis, Herlitz type" EXACT [] synonym: "Epidermolysis Bullosa Letali" EXACT [] synonym: "epidermolysis bullosa letalis" EXACT [] synonym: "Herlitz-Pearson-type epidermolysis bullosa" EXACT [] synonym: "JEB-H" EXACT [] synonym: "JEB-Herlitz type" EXACT [] synonym: "junctional epidermolysis bullosa generalisata gravis" EXACT [] synonym: "junctional epidermolysis bullosa, generalized severe" EXACT [] synonym: "junctional epidermolysis bullosa gravis of Herlitz" EXACT [] synonym: "junctional epidermolysis bullosa, Herlitz-Pearson type" EXACT [] synonym: "lethal junctional epidermolysis bullosa" EXACT [] xref: ICD10CM:Q81.1 xref: ORDO:79404 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3209 ! junctional epidermolysis bullosa created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0060738 name: junctional epidermolysis bullosa non-Herlitz type def: "A junctional epidermolysis bullosa characterized by skin and mucosal blistering, nail dystrophy or nail absence and enamel hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in several genes including COL17A1, ITGB4 and the 3 genes that encode the subunits of laminin-5: LAMA3, LAMB3, and LAMC2. The non-Herlitz type is less severe than the related Herlitz type of junctional epidermolysis bullosa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10792571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11810295 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18374450 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550320 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7706760 "DO"] synonym: "epidermolysis bullosa junctionalis, Disentis type" EXACT [] synonym: "epidermolysis bullosa junctionalis, non-Herlitz type" EXACT [] synonym: "epidermolysis bullosa junctionalis, severe nonlethal" EXACT [] synonym: "generalized junctional epidermolysis bullosa, non-Herlitz type" EXACT [] synonym: "JEB-nH gen" EXACT [] synonym: "JEN-nH" EXACT [] synonym: "junctional epidermolysis bullosa, Disentis type" EXACT [] synonym: "junctional epidermolysis bullosa generalisata mitis" EXACT [] synonym: "progressive epidermolysis bullosa junctionalis" EXACT [] xref: MESH:C562639 xref: ORDO:79402 xref: ORDO:89840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3209 ! junctional epidermolysis bullosa [Term] id: DOID:0060739 name: hand-foot-genital syndrome alt_id: MIM:140000 def: "A syndrome characterized by distal limb defects (short thumbs and first toes, clinodactyly of the fifth fingers, delayed ossification of the wrist and ankle bones), urogenital defects and that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5450271 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9020844 "DO"] synonym: "hand-foot-uterus syndrome" EXACT [] synonym: "HFG" EXACT [] synonym: "HFGS" EXACT [] synonym: "HFG syndrome" EXACT [] synonym: "HFU" EXACT [] synonym: "HFU syndrome" EXACT [] xref: GARD:2594 xref: ICD10CM:Q51.2 xref: MESH:C535627 xref: ORDO:2438 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060740 name: methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency def: "A methylmalonic acidemia characterized by accumulation of methylmalonic acid in the blood that is unresponsive to vitamn B12 therapy and that has_material_basis_in mutation in the MUT gene on chromosome 6p12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1975493 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1977311 "DO"] synonym: "MAMM" EXACT [] synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [] synonym: "METHYLMALONIC ACIDURIA DUE TO COMPLETE METHYLMALONYL-COA MUTASE DEFICIENCY" NARROW [] synonym: "methylmalonic aciduria, mut(-) type" RELATED [] synonym: "methylmalonic aciduria, mut(0) type" RELATED [] synonym: "methylmalonic aciduria, mut type" NARROW [] synonym: "MMA due to MCM Deficiency" EXACT [] synonym: "vitamin B12-unresponsive methylmalonic aciduria" EXACT [] xref: ICD10CM:E71.1 xref: MESH:C565390 xref: MIM:251000 xref: MONDO:0009612 xref: NCI:C148366 xref: ORDO:27 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060741 name: methylmalonic acidemia due to transcobalamin receptor defect def: "A methylmalonic acidemia characterized by autosomal recessive inheritance of low uptake of transcobalamin-bound cobalamin, but normal conversion to adenosylcobalamin and methylcobalamin and that has_material_basis_in mutation in the CD320 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20524213 "DO"] synonym: "MATR" EXACT [] synonym: "methylmalonic acidemia, TCblR type" EXACT [] synonym: "methylmalonic aciduria due to transcobalamin receptor defect" EXACT [] synonym: "methylmalonic aciduria, transient, due to transcobalamin receptor defect" EXACT [] xref: MIM:613646 xref: MONDO:0013341 xref: NCI:C183527 xref: ORDO:280183 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060742 name: methylmalonic acidemia cblA type def: "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAA gene on chromosome 4q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12438653 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5686220 "DO"] synonym: "cblA methylmalonic acidemia" EXACT [] synonym: "cobalamin A disease" EXACT [] synonym: "MACA" EXACT [] synonym: "methylmalonic acidemia cb1A type" EXACT [] synonym: "methylmalonic acidemia due to methylmalonyl-CoA mutase deficiency" EXACT [] synonym: "methylmalonic aciduria (cobalamin deficiency) cblA type" EXACT [] synonym: "methylmalonic aciduria cb1A type" EXACT [] synonym: "methylmalonic aciduria cblA type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cb1A type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive due to a defect in synthesis of adenosylcobalamin cblA type" EXACT [] synonym: "METHYLMALONICACIDURIA, vitamin B12-RESPONSIVE, DUE TO DEFECT IN SYNTHESIS OF ADENOSYLCOBALAMIN--cbl A" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblA type" EXACT [] synonym: "MMA due to MCM deficiency" EXACT [] xref: EFO:0009073 xref: MESH:C537360 xref: MIM:251100 xref: MONDO:0009613 xref: NCI:C142171 xref: ORDO:79310 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060743 name: methylmalonic acidemia cblB type def: "A methylmalonic acidemia characterized by autosomal recessive inheritance, defects in the synthesis of AdoCbl, vitamin B12 therapy responsiveness and that has_material_basis_in homozygous or compound heterozygous mutation in the MMAB gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12471062 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7213387 "DO"] synonym: "CblB methylmalonic acidemia" EXACT [] synonym: "Cobalamin B disease" EXACT [] synonym: "MACB" EXACT [] synonym: "methylmalonic aciduria cb1B type" RELATED [] synonym: "methylmalonic aciduria cblB type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin--cbl B" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type" EXACT [] synonym: "methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB type" EXACT [] xref: EFO:0009074 xref: MESH:C537361 xref: MIM:251110 xref: MONDO:0009614 xref: NCI:C142172 xref: ORDO:79311 is_a: DOID:14749 ! methylmalonic acidemia [Term] id: DOID:0060744 name: Pendred syndrome alt_id: MIM:274600 def: "A syndrome characterized by bilateral prelingual sensorineural hearing loss and euthyroid goiter and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC26A4 gene on chromosome 7q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9398842 "DO"] synonym: "autosomal recessive sensorineural hearing impairment and goiter" EXACT [] synonym: "congenital hypothyroidism due to dyshormonogenesis, 2B" EXACT [] synonym: "deafness with goiter" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 2B" EXACT [] synonym: "Goiter-deafness syndrome" EXACT [] synonym: "PDS" EXACT [] synonym: "Pendred's syndrome" EXACT [] synonym: "SLC26A4-RELATED CONDITION" BROAD [] synonym: "SLC26A4-related disorder" BROAD [] synonym: "TDH2B" EXACT [] synonym: "thyroid dyshormonogenesis 2B" EXACT [] xref: GARD:4271 xref: ICD10CM:E07.1 xref: MESH:C536648 xref: NCI:C121745 xref: ORDO:705 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:13197 ! nodular goiter is_a: DOID:225 ! syndrome [Term] id: DOID:0060745 name: Doyne honeycomb retinal dystrophy alt_id: MIM:126600 def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium in the posterior pole of the eye in a honeycomb pattern and that has_material_basis_in mutations in the EFEMP1 gene on chromosome 2p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369267 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11384588 "DO"] synonym: "DHRD" EXACT [] synonym: "Doyne honeycomb degeneration of retina" NARROW [] synonym: "Malattia Leventinese" EXACT [] synonym: "MLVT" NARROW [] synonym: "radial drusen, autosomal dominant" NARROW [] xref: GARD:1912 xref: MESH:C535602 xref: ORDO:75376 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13561 ! optic disk drusen is_a: DOID:2569 ! retinal drusen [Term] id: DOID:0060746 name: basal laminar drusen alt_id: MIM:126700 def: "A retinal drusen characterized by yellow-white deposits (drusen) that accumulate beneath the retinal pigment epithelium on Bruch membrane and that has_material_basis_in mutations in the CFH gene on chromosome 1q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252232 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5448127 "DO"] synonym: "cuticular drusen" EXACT [] synonym: "drusen of Bruch membrane" EXACT [] synonym: "grouped drusen, early adult-onset" EXACT [] xref: MESH:C563034 is_a: DOID:0050177 ! monogenic disease is_a: DOID:2569 ! retinal drusen is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0060747 name: Duane-radial ray syndrome def: "A syndrome characterized by upper limb anomalies, ocular anomalies, and, in some cases, renal anomalies and that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12393809 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12843316 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8882787 "DO"] synonym: "acro-renal-ocular syndrome" EXACT [] synonym: "acrorenocular syndrome" EXACT [] synonym: "DRRS" EXACT [] synonym: "DR syndrome" EXACT [] synonym: "Duane anomaly with radial abnormalities and deafness" EXACT [] synonym: "Duane anomaly with radial ray abnormalities and deafness" EXACT [] synonym: "Okihiro syndrome" EXACT [] synonym: "SALL4-RELATED CONDITION" EXACT [] synonym: "SALL4-RELATED DISORDER" BROAD [] xref: GARD:9182 xref: MIM:607323 xref: MONDO:0011812 xref: ORDO:93293 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060748 name: familial temporal lobe epilepsy 1 alt_id: MIM:600512 alt_id: RDO:0003114 alt_id: RDO:0008760 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10851389 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12205652 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15079010 "DO"] synonym: "ADLTE" EXACT [] synonym: "ADPEAF" EXACT [] synonym: "AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES" EXACT [] synonym: "Autosomal Dominant Lateral Temporal Lobe Epilepsy" EXACT [] synonym: "Autosomal dominant partial epilepsy with auditory features" EXACT [] synonym: "ETL1" EXACT [] synonym: "LGI1-RELATED CONDITION" EXACT [] synonym: "partial epilepsy with auditory features" EXACT [] xref: MESH:C537297 xref: NCI:C141441 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:535 ! sleep disorder is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060749 name: familial temporal lobe epilepsy 6 alt_id: RDO:9002965 def: "A temporal lobe epilepsy that has_material_basis_in variation in the chromosome region 3q25-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24021842 "DO"] synonym: "ETL6" EXACT [] xref: MIM:615697 xref: ORDO:163717 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060750 name: familial temporal lobe epilepsy 3 alt_id: MIM:611630 alt_id: RDO:0009548 alt_id: RDO:0015117 def: "A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17377072 "DO"] synonym: "EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE" EXACT [] synonym: "ETL3" EXACT [] synonym: "FMTLE" EXACT [] synonym: "MDR1 POLYMORPHISM" RELATED [] xref: MESH:C566903 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy is_a: DOID:9004798 ! Drug Resistant Epilepsy [Term] id: DOID:0060751 name: familial temporal lobe epilepsy 7 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26046367 "DO"] synonym: "ETL7" EXACT [] synonym: "RELN-RELATED CONDITION" BROAD [] xref: MIM:616436 xref: ORDO:101046 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060752 name: familial temporal lobe epilepsy 5 alt_id: RDO:9000289 def: "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21922598 "DO"] synonym: "CPA6-RELATED CONDITION" BROAD [] synonym: "ETL5" EXACT [] xref: MIM:614417 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060753 name: familial temporal lobe epilepsy 4 alt_id: MIM:611631 alt_id: RDO:0015116 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has_material_basis_in variation in the chromosome region 9q21-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17460155 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18332351 "DO"] synonym: "Epilepsy, Occipitotemporal Lobe, And Migraine With Aura" EXACT [] synonym: "EPOLM" EXACT [] synonym: "ETL4" EXACT [] xref: MESH:C566902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060754 name: familial temporal lobe epilepsy 8 alt_id: RDO:9001450 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25691535 "DO"] synonym: "ETL8" EXACT [] xref: MIM:616461 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060755 name: familial temporal lobe epilepsy 2 alt_id: RDO:0009163 def: "A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12011300 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15342703 "DO"] synonym: "ETL2" EXACT [] synonym: "FTLE" EXACT [] xref: MIM:608096 xref: ORDO:98819 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004342 ! Familial Temporal Epilepsy [Term] id: DOID:0060756 name: sclerosteosis 1 def: "A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11179006 "DO"] synonym: "SOST1" EXACT [] synonym: "SOST-RELATED CONDITION" BROAD [] xref: ICD10CM:M85.2 xref: MIM:269500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060251 ! sclerosteosis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060757 name: sclerosteosis 2 def: "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21471202 "DO"] synonym: "SOST2" EXACT [] xref: MIM:614305 xref: ORDO:3152 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060251 ! sclerosteosis [Term] id: DOID:0060758 name: immunodeficiency with hyper-IgM type 2 def: "A hyper IgM syndrome that is characterized by normal or elevated serum IgM levels with absence of IgG, IgA, and IgE, resulting in a profound susceptibility to bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the AICDA gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11007475 "DO"] synonym: "activation-induced cytidine deaminase deficiency" EXACT [] synonym: "AID deficiency" EXACT [] synonym: "HIGM2" EXACT [] synonym: "HIGM2 syndrome" EXACT [] synonym: "hyper IgM immunodeficiency syndrome type 2" EXACT [] synonym: "hyper IgM syndrome 2" EXACT [] synonym: "hyper-IgM syndrome type 2" EXACT [] xref: GARD:10578 xref: MIM:605258 xref: MONDO:0011528 xref: NCI:C129074 xref: ORDO:101089 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080544 ! hyper IgM syndrome is_a: DOID:9005358 ! Hypergammaglobulinemia created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060759 name: immunodeficiency with hyper IgM type 5 def: "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process that has_material_basis_in homozygous or compound heterozygous mutation in the UNG gene on chromosome 12q23-q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12958596 "DO"] synonym: "HIGM5" EXACT [] synonym: "HIGM5 syndrome" EXACT [] synonym: "hyper IgM immunodeficiency syndrome type 5" EXACT [] synonym: "hyper-IgM syndrome 5" EXACT [] synonym: "hyper-IgM syndrome due to UNG deficiency" EXACT [] synonym: "hyper-IgM syndrome due to uracil N-glycosylase" EXACT [] xref: GARD:10581 xref: MIM:608106 xref: ORDO:101092 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080544 ! hyper IgM syndrome is_a: DOID:9005358 ! Hypergammaglobulinemia created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0060760 name: immunodeficiency with hyper-IgM type 4 alt_id: MIM:608184 def: "A hyper IgM syndrome that is characterized by normal or increased serum IgM concentrations associated with low or absent serum IgG, IgA, and IgE concentrations, indicating a defect in the class-switch recombination (CSR) process. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12840068 "DO"] synonym: "HIGM4" EXACT [] synonym: "Hyper-Igm Syndrome 4" EXACT [] synonym: "hyper-IgM syndrome type 4" EXACT [] xref: GARD:10580 xref: MESH:C564277 xref: NCI:C564277 xref: ORDO:101091 is_a: DOID:0080544 ! hyper IgM syndrome is_a: DOID:9005358 ! Hypergammaglobulinemia [Term] id: DOID:0060761 name: familial chronic myelocytic leukemia-like syndrome alt_id: MIM:600080 def: "A chronic myeloid leukemia characterized by chronic myelocytic leukemia in early infancy and absence of the BCR/ABL fusion gene (Philadelphia chromosome). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8086739 "DO"] synonym: "Cml-Like Syndrome, Familial" EXACT [] xref: MESH:C536093 is_a: DOID:8552 ! chronic myeloid leukemia is_a: DOID:8692 ! myeloid leukemia is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0060762 name: restrictive dermopathy def: "A skin disease characterized by thin, tightly adherent translucent skin with erosions at flexure sites, superficial vessels, typical facial dysmorphism, and generalized joint ankylosis. Prenatal signs may include intrauterine growth retardation, reduced fetal movements, polyhydramnios, and premature rupture of the membranes. Most infants die within the first week of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15317753 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101687 "DO"] synonym: "fetal hypokinesia sequence due to restrictive dermopathy" EXACT [] synonym: "hyperkeratosis-contracture syndrome" EXACT [] synonym: "infantile restrictive dermopathy" EXACT [] synonym: "lethal restrictive dermopathy" EXACT [] synonym: "lethal tight skin contracture syndrome" EXACT [] synonym: "tight skin contracture syndrome" EXACT [] xref: GARD:1516 xref: MESH:C536920 xref: MIM:PS275210 xref: ORDO:1662 is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9006138 ! Laminopathies is_a: DOID:9006836 ! Contracture [Term] id: DOID:0060763 name: X-linked juvenile retinoschisis 1 alt_id: RDO:9003957 def: "A retinoschisis characterized by schisis (splitting) of the neural retina leading to reduced visual acuity in males due that has_material_basis_in the RS1 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17172462 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9326935 "DO"] synonym: "congenital X-linked retinoschisis" EXACT [] synonym: "juvenile retinoschisis, X chromosome-linked" EXACT [] synonym: "RS1" EXACT [] synonym: "X-linked juvenile retinoschisis" EXACT [] synonym: "X-linked retinoschisis" EXACT [] synonym: "XLRS" EXACT [] synonym: "XLRS1" EXACT [] xref: ICD10CM:Q14.1 xref: MIM:312700 xref: NCI:C75483 xref: ORDO:792 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:8465 ! retinoschisis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0060764 name: autosomal recessive Robinow syndrome alt_id: MIM:268310 def: "A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10932186 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10932187 "DO"] synonym: "autosomal recessive Robinow syndrome, with aplasia/hypoplasia of phalanges and metacarpals/metatarsals" NARROW [] synonym: "autosomal recessive Robinow syndrome, with autosomal dominant brachydactyly type B1" NARROW [] synonym: "autosomal recessive Robinow syndrome, with brachy-syn-polydactyly" NARROW [] synonym: "BRACHYDACTYLY, TYPE B1, ROBINOW SYNDROME, AUTOSOMAL RECESSIVE" NARROW [] synonym: "costovertebral segmentation defect-mesomelia syndrome" EXACT [] synonym: "COSTOVERTEBRAL SEGMENTATION DEFECT WITH MESOMELIA" EXACT [] synonym: "Covesdem Syndrome" NARROW [] synonym: "ROR2-RELATED CONDITION" BROAD [] synonym: "ROR2-related disorder" BROAD [] synonym: "RRS" EXACT [] xref: MESH:C535863 xref: ORDO:1507 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060254 ! Robinow syndrome is_a: DOID:9004563 ! Maxillofacial Abnormalities [Term] id: DOID:0060765 name: autosomal dominant Robinow syndrome 2 def: "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25817014 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26924530 "DO"] synonym: "DRS2" EXACT [] xref: MIM:616331 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060254 ! Robinow syndrome created_by: rgd creation_date: 2017-04-03T00:00:00Z [Term] id: DOID:0060766 name: autosomal dominant Robinow syndrome 1 def: "A Robinow syndrome characterized by autosomal dominant inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19918918 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24716670 "DO"] synonym: "DRS1" EXACT [] xref: MIM:180700 xref: ORDO:3107 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060254 ! Robinow syndrome created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0060767 name: autosomal dominant Robinow syndrome 3 def: "A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26924530 "DO"] synonym: "DRS3" EXACT [] synonym: "DVL3-RELATED CONDITION" EXACT [] xref: MIM:616894 xref: ORDO:97360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060254 ! Robinow syndrome created_by: rgd creation_date: 2016-04-19T00:00:00Z [Term] id: DOID:0060768 name: Smith-Magenis syndrome alt_id: MIM:182290 def: "A chromosomal deletion syndrome that is characterized by mild-to-moderate infantile hypotonia, minor skeletal anomalies, prepubertal short stature, brachydactyly, ophthalmologic and otolaryngologic abnormalities, peripheral neuropathy, developmental delay, cognitive impairment, and behavioral abnormalities that has_material_basis_in a 3.7-Mb interstitial deletion in chromosome 17p11.2 or sometimes by mutations in the RAI1 gene in the same region. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1310/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/16845274 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21844811 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6745947 "DO"] synonym: "17p11.2 microdeletion syndrome" EXACT [] synonym: "17p11.2 Monosomy" EXACT [] synonym: "Chromosome 17p11.2 Deletion Syndrome" EXACT [] synonym: "RAI1-RELATED CONDITION" EXACT [] synonym: "SMCR" EXACT [] synonym: "Smith-Magenis syndrome chromosome region" EXACT [] synonym: "SMITH-MAGENIS SYNDROME-LIKE" RELATED [] synonym: "SMS" EXACT [] xref: GARD:8197 xref: MESH:D058496 xref: NCI:C75469 xref: ORDO:819 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9004980 ! Chronobiology Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060769 name: T-cell immunodeficiency, congenital alopecia, and nail dystrophy alt_id: MIM:601705 def: "A severe combined immunodeficiency characterized by congenital alopecia, severe T-cell immunodeficiency, and ridging, pitting or curving of all nails that has_material_basis_in homozygous mutation in the FOXN1 gene on chromosome 17q11-q12. (DO)" [https://ghr.nlm.nih.gov/condition/t-cell-immunodeficiency-congenital-alopecia-and-nail-dystrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/10206641 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8911612 "DO"] synonym: "alymphoid cystic thymic dysgenesis" EXACT [] synonym: "congenital alopecia and nail dystrophy associated with severe functional T-cell immunodeficiency" EXACT [] synonym: "Pignata Guarino syndrome" EXACT [] synonym: "severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome" EXACT [] synonym: "winged helix deficiency" EXACT [] xref: ICD10CM:D82.8 xref: MESH:C536781 xref: ORDO:169095 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:4123 ! nail disease is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:987 ! alopecia [Term] id: DOID:0060770 name: dextro-looped transposition of the great arteries alt_id: DOID:0060771 alt_id: MESH:C563853 alt_id: MIM:608808 def: "A congenital heart disease characterized by complete inversion of the great vessels where the aorta incorrectly arises from the right ventricle and the pulmonary artery incorrectly arises from the left ventricle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11799476 "DO"] synonym: "congenitally uncorrected transposition of the great arteries" EXACT [] synonym: "congenitally uncorrected transposition of the great vessels" EXACT [] synonym: "dextro-looped transposition of the great arteries 1" EXACT [] synonym: "D-TGA" EXACT [] synonym: "DTGA1" EXACT [] synonym: "great arteries transposition" EXACT [] synonym: "great arteries transpositions" EXACT [] synonym: "great vessels transposition" EXACT [] synonym: "great vessels transpositions" EXACT [] synonym: "isolated ventriculoarterial discordance" EXACT [] synonym: "MED13L-RELATED CONDITION" BROAD [] synonym: "MED13L-related disorder" BROAD [] synonym: "transposition of great arteries" EXACT [] synonym: "transposition of great vessels" EXACT [] synonym: "TRANSPOSITION OF THE GREAT ARTERIES" EXACT [] synonym: "ventriculoarterial discordance with atrioventricular concordance" EXACT [] xref: ICD10CM:Q20.3 xref: MESH:D014188 xref: MONDO:0000153 xref: NCI:C84742 xref: ORDO:860 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0060772 name: multiple types of congenital heart defects 6 def: "A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that\nhas_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17924340 "DO"] synonym: "CHTD6" EXACT [] synonym: "congenital heart defects, multiple types, 6" EXACT [] synonym: "dextro-looped transposition of the great arteries 3" EXACT [] synonym: "DTGA3" EXACT [] synonym: "GDF1-RELATED CONDITION" BROAD [] synonym: "GDF1-RELATED DISORDERS" BROAD [] xref: MIM:613854 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060770 ! dextro-looped transposition of the great arteries is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types [Term] id: DOID:0060773 name: cleft lip-palate-ectodermal dysplasia syndrome alt_id: MIM:225060 def: "A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3035184 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9758630 "DO"] synonym: "autosomal recessive ectodermal dysplasia" EXACT [] synonym: "Bustos Simosa Pinto Cisternas syndrome" EXACT [] synonym: "cleft lip/palate-syndactyly-pili torti syndrome" EXACT [] synonym: "CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7" NARROW [] synonym: "CLPED1" EXACT [] synonym: "Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" EXACT [] synonym: "ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7" NARROW [] synonym: "Ectodermal dysplasia Margarita island type" EXACT [] synonym: "ectodermal dysplasia type 4" EXACT [] synonym: "ED4" EXACT [] synonym: "Margarita type of ectodermal dysplasia" EXACT [] synonym: "OFC7" NARROW [] synonym: "syndactyly-ectodermal dysplasia-cleft/lip palate" EXACT [] synonym: "Zlotogora-Ogur syndrome" EXACT [] synonym: "Zlotogora-Zilberman-Tenenbaum syndrome" EXACT [] xref: GARD:375 xref: MESH:C536726 xref: NCI:C122656 xref: ORDO:3253 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080400 ! orofacial cleft 7 is_a: DOID:1059 ! intellectual disability is_a: DOID:11193 ! syndactyly is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:0060774 name: congenital diarrhea def: "A diarrhea that is characterized by frequent loose or liquid bowel movements where the disease is present from birth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22605972 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30894704 "DO"] xref: MIM:PS214700 is_a: DOID:0080015 ! physical disorder is_a: DOID:13250 ! diarrhea created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:0060775 name: microvillus inclusion disease alt_id: MIM:251850 def: "A congenital diarrhea characterized by onset of intractable life-threatening watery diarrhea during infancy, lack of microvilli on the surface of enterocytes and occurrence of intracellular vacuolar structures containing microvilli that has_material_basis_in homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18724368 "DO"] synonym: "congenital familial protracted diarrhea with enterocyte brush-border abnormalities" EXACT [] synonym: "congenital microvillous atrophy" EXACT [] synonym: "congenital microvillus atrophy" EXACT [] synonym: "Davidson disease" EXACT [] synonym: "DIAR2" EXACT [] synonym: "diarrhea 2 with microvillus atrophy" EXACT [] synonym: "diarrhea with microvillus atrophy" EXACT [] synonym: "intractable diarrhea of infancy" EXACT [] synonym: "microvillus inclusion disease 1" EXACT [] synonym: "MVD" EXACT [] synonym: "MVID" EXACT [] synonym: "MVID1" EXACT [] synonym: "MYO5B-RELATED CONDITION" BROAD [] xref: GARD:7039 xref: MESH:C537470 xref: ORDO:2290 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:3343 ! glycoproteinosis is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:0060776 name: congenital diarrhea 5 with tufting enteropathy alt_id: MIM:613217 def: "A congenital diarrhea characterized by intractable diarrhea of infancy with villous atrophy, absence of inflammation, and intestinal epithelial cell dysplasia manifesting as focal epithelial tufts in the duodenum and jejunum that has_material_basis_in homozygous or compound heterozygous mutation in the EPCAM gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18572020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23462293 "DO"] synonym: "congenital diarrhoea 5 with tufting enteropathy" EXACT [] synonym: "congenital familial intractable diarrhea with epithelial or epithelium abnormalities" EXACT [] synonym: "congenital familial intractable diarrhoea with epithelial or epithelium abnormalities" EXACT [] synonym: "congenital tufting enteropathy" EXACT [] synonym: "CTE" EXACT [] synonym: "DIAR5" EXACT [] synonym: "intestinal epithelial cell dysplasia" EXACT [] synonym: "tufting enteropathy" EXACT [] xref: MESH:C567703 xref: NCI:C183530 xref: ORDO:92050 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:9002984 ! Malabsorption Syndromes is_a: DOID:9007847 ! Infantile Diarrhea [Term] id: DOID:0060777 name: congenital secretory sodium diarrhea 8 def: "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC9A3 gene on chromosome 5p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26358773 "DO"] synonym: "congenital sodium diarrhea" EXACT [] synonym: "CSD" EXACT [] synonym: "DIAR8" EXACT [] xref: MIM:616868 xref: ORDO:103908 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea [Term] id: DOID:0060778 name: congenital diarrhea 7 with exudative enteropathy alt_id: DOID:9009029 def: "A congenital diarrhea characterized by watery diarrhea, protein-losing enteropathy, patchy areas of dystrophic microvilli in the duodenum and patchy areas of villous atrophy that has_material_basis_in homozygous mutation in the DGAT1 gene on chromosome 8q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23114594 "DO"] synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [] synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [] synonym: "congenital chronic diarrhoea with exudative enteropathy" EXACT [] synonym: "congenital chronic diarrhoea with protein-losing enteropathy" EXACT [] synonym: "congenital diarrhoea 7 with exudative enteropathy" EXACT [] synonym: "DIAR7" EXACT [] synonym: "diarrhea 7" EXACT [] xref: ICD10CM:P78.3 xref: MIM:615863 xref: ORDO:329242 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:9007847 ! Infantile Diarrhea created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060779 name: congenital malabsorptive diarrhea 4 alt_id: MIM:610370 def: "A congenital diarrhea characterized by chronic unremitting malabsorptive diarrhea and a profound dysgenesis of the enteroendocrine cells that has_material_basis_in mutation in the gene encoding neurogenin-3 (NEUROG3) on chromosome 10q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16855267 "DO"] synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [] synonym: "congenital malabsorptive diarrhoea 4" EXACT [] synonym: "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells" EXACT [] synonym: "DIAR4" EXACT [] synonym: "enteric anendocrinosis" EXACT [] xref: MESH:C563673 xref: ORDO:83620 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:0060780 name: congenital diarrhea 6 alt_id: DOID:9004022 def: "A congenital diarrhea characterized by mild, early-onset chronic diarrhea that has_material_basis_in heterozygous mutation in the GUCY2C gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22436048 "DO"] synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [] synonym: "chronic diarrhoea due to guanylate cyclase 2C overactivity" EXACT [] synonym: "congenital diarrhoea 6" EXACT [] synonym: "DIAR6" EXACT [] synonym: "Diarrhea 6" EXACT [] xref: MIM:614616 xref: ORDO:314373 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060774 ! congenital diarrhea created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0060781 name: congenital secretory sodium diarrhea 3 alt_id: MIM:270420 def: "A secretory diarrhea that has_material_basis_in homozygous or compound heterozygous mutation in the SPINT2 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19185281 "DO"] synonym: "congenital secretory sodium diarrhea 3, syndromic" EXACT [] synonym: "congenital secretory sodium diarrhea 3, with or without other congenital anomalies" EXACT [] synonym: "congenital secretory sodium diarrhoea 3" EXACT [] synonym: "congenital secretory sodium diarrhoea 3 syndromic" EXACT [] synonym: "congenital secretory sodium diarrhoea 3 with or without other congenital anomalies" EXACT [] synonym: "congenital sodium diarrhea" EXACT [] synonym: "CSD" EXACT [] synonym: "DIAR3" EXACT [] xref: MESH:C562576 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060782 name: EEC syndrome def: "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). (DO)" [https://rarediseases.info.nih.gov/diseases/2076/eec-syndrome "DO"] synonym: "cleft lip-cleft palate-lobster claw deformity syndrome" EXACT [] synonym: "ectrodactyly-cleft lip/palate syndrome" EXACT [] synonym: "ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome" EXACT [] synonym: "ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome" EXACT [] synonym: "ectrodactyly-ectodermal dysplasia-clefting syndrome" EXACT [] synonym: "Rudiger syndrome 1" EXACT [] synonym: "Walker-Clodius syndrome" EXACT [] xref: MESH:C536189 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:0060783 name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 alt_id: MIM:604292 def: "An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10535733 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8737655 "DO"] synonym: "EEC3" EXACT [] synonym: "EEC Syndrome 3" EXACT [] xref: MESH:C565799 xref: NCI:C148261 is_a: DOID:0060782 ! EEC syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0060784 name: ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 alt_id: MIM:129900 def: "An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1424230 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5454938 "DO"] synonym: "EEC" EXACT [] synonym: "EEC1" EXACT [] synonym: "EEC Syndrome 1" EXACT [] xref: MESH:C565062 xref: ORDO:1896 is_a: DOID:0060782 ! EEC syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0060785 name: adult-onset autosomal dominant demyelinating leukodystrophy def: "A leukodystrophy characterized by onset in the 4th or 5th decade of life of autonomic abnormalities, pyramidal and cerebellar dysfunction, and symmetric demyelination of the CNS that has_material_basis_in heterozygous tandem genomic duplication resulting in an extra copy of the LMNB1 gene on chromosome 5q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16951681 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19151023 "DO"] synonym: "ADLD" EXACT [] synonym: "adult-onset autosomal dominant leukodystrophy" EXACT [] synonym: "adult-onset leukodystrophy" EXACT [] synonym: "autosomal-dominant or late-onset type Pelizaeus-Merzbacher disease" EXACT [] synonym: "LMNB1-RELATED CONDITION" BROAD [] synonym: "multiple sclerosis-like disorder" EXACT [] synonym: "SYNDROME WITH MICROCEPHALY AS MAJOR FEATURE" NARROW [] xref: GARD:10587 xref: MESH:C566813 xref: MIM:169500 xref: MONDO:0008215 xref: ORDO:99027 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:0060786 name: hypomyelinating leukodystrophy def: "A leukodystrophy characterized by improper formation of the myelin sheath in the central nervous system resulting in T2 hyperintensity and variable T1 signal on magnetic resonance imaging. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24916848/ "DO", https://pubmed.ncbi.nlm.nih.gov/25649058/ "DO", https://pubmed.ncbi.nlm.nih.gov/27234264/ "DO"] synonym: "HLD" EXACT [] xref: MIM:PS312080 is_a: DOID:10579 ! leukodystrophy is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0060787 name: hypomyelinating leukodystrophy 2 alt_id: MIM:608804 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of nystagmus, impaired motor development, ataxia, choreoathetotic movements, dysarthria, and progressive spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GJC2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15192806 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18094336 "DO"] synonym: "HLD2" EXACT [] synonym: "Pelizaeus-Merzbacher-Like disease, 1" EXACT [] synonym: "Pelizaeus-Merzbacher-like disease due to GJC2 mutation" EXACT [] synonym: "PMLD1" EXACT [] xref: MESH:C563855 xref: ORDO:280282 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060788 name: hypomyelinating leukodystrophy 10 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of progressive postnatal microcephaly, severely delayed psychomotor development and hypomyelination that has_material_basis_in homozygous mutation in the PYCR2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25865492 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27130255 "DO"] synonym: "HLD10" EXACT [] xref: MIM:616420 xref: MONDO:0014632 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060789 name: hypomyelinating leukodystrophy 4 alt_id: MIM:612233 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hypotonia, nystagmus, psychomotor developmental delay, and severe hypomyelinating leukoencephalopathy that has_material_basis_in homozygous mutation in the HSPD1 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18571143 "DO"] synonym: "HLD4" EXACT [] synonym: "MITCHAP60 disease" EXACT [] synonym: "mitochondrial HSP60 chaperonopathy" EXACT [] synonym: "Pelizaeus-Merzbacher-like disease due to HSPD1 mutation" EXACT [] xref: MESH:C567390 xref: ORDO:280288 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0060790 name: hypomyelinating leukodystrophy 3 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system that has_material_basis_in homozygous mutation in the AIMP1 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21092922 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24958424 "DO"] synonym: "HLD3" EXACT [] synonym: "leukodystrophy, hypomyelinating, 3" EXACT [] synonym: "Pelizaeus-Merzbacher-like disease, autosomal recessive, 2" EXACT [] synonym: "Pelizaeus-Merzbacher-like disease due to AIMP1 mutation" EXACT [] synonym: "perinatal sudanophilic leukodystrophy" EXACT [] xref: MESH:C536319 xref: MIM:260600 xref: MONDO:0009843 xref: ORDO:280293 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060791 name: hypomyelinating leukodystrophy 9 def: "A hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has_material_basis_in compound heterozygous mutation in the RARS gene on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24777941 "DO"] synonym: "HLD9" EXACT [] synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [] xref: MIM:616140 xref: MONDO:0014506 xref: ORDO:438114 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060792 name: hypomyelinating leukodystrophy 11 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of delayed psychomotor development and other neurologic features associated with hypomyelination that has_material_basis_in homozygous or compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26151409 "DO"] synonym: "4H leukodystrophy 3" EXACT [] synonym: "HLD11" EXACT [] synonym: "POLR1C-related disorder" BROAD [] synonym: "POLR1C-related disorders" BROAD [] xref: MIM:616494 xref: MONDO:0014666 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060793 name: hypomyelinating leukodystrophy 5 alt_id: MIM:610532 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of congenital cataract, progressive neurologic impairment, and diffuse myelin deficiency that has_material_basis_in homozygous mutation in the FAM126A gene on chromosome 7p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16951682 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17683097 "DO"] synonym: "HLD5" EXACT [] synonym: "hypomyelination and congenital cataract" EXACT [] synonym: "hypomyelination and congenital cataract: HCC" EXACT [] synonym: "hypomyelination-congenital cataract syndrome" EXACT [] xref: ICD10CM:G37.8 xref: MESH:C567166 xref: ORDO:85163 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:83 ! cataract [Term] id: DOID:0060794 name: hypomyelinating leukodystrophy 7 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of hildhood onset of progressive motor decline manifest as spasticity, ataxia, tremor, and cerebellar signs, as well as mild cognitive regression that has_material_basis_in homozygous or compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12605447 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21855841 "DO"] synonym: "4H leukodystrophy 1" EXACT [] synonym: "4H syndrome" EXACT [] synonym: "ADDH" EXACT [] synonym: "ataxia, delayed dentition, and hypomyelination" EXACT [] synonym: "ataxia-delayed dentition-hypomyelination syndrome; odontoleukodystrophy" EXACT [] synonym: "dentoleukoencephalopathy" EXACT [] synonym: "HLD7" EXACT [] synonym: "hypomyelinating leukodystrophy 7, with hypodontia and hypogonadotropic hypogonadism" EXACT [] synonym: "hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism" EXACT [] synonym: "hypomyelinating leukodystrophy, with hypodontia and hypogonadotropic hypogonadism" EXACT [] synonym: "hypomyelinating leukoencephalopathy with ataxia and delayed dentition" EXACT [] synonym: "hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome" EXACT [] synonym: "HYPOMYELINATION-HYPOGONADOTROPIC HYPOGONADISM-HYPODONTIA SYNDROME" EXACT [] synonym: "leukodystrophy with oligodontia" EXACT [] synonym: "leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome" EXACT [] synonym: "POL III-related leukodystrophy" EXACT [] synonym: "POLR3A-RELATED DISORDERS" BROAD [] synonym: "POLR3A-RELATED NEUROLOGICAL DISORDER" BROAD [] synonym: "POLR3-RELATED LEUKODYSTROPHY" EXACT [] synonym: "TACH syndrome" EXACT [] synonym: "tremor-ataxia-central hypomyelination syndrome" EXACT [] xref: ICD10CM:G11.1 xref: MESH:C567313 xref: MIM:607694 xref: MONDO:0019505 xref: ORDO:137639 xref: ORDO:447893 xref: ORDO:447896 xref: ORDO:77295 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:13714 ! anodontia is_a: DOID:1924 ! hypogonadism is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0060795 name: hypomyelinating leukodystrophy 13 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of infantile onset of delayed psychomotor development, axial hypotonia, and spasticity associated with delayed myelination and periventricular white matter abnormalities that has_material_basis_in homozygous mutation in the C11ORF73 gene on chromosome 11q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26545878 "DO"] synonym: "HIKESHI-RELATED CONDITION" EXACT [] synonym: "HLD13" EXACT [] xref: MIM:616881 xref: MONDO:0014813 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060796 name: hypomyelinating leukodystrophy 12 alt_id: OMIA:002152 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of severely delayed or even lack of psychomotor development that becomes apparent in the first months of life, acquired microcephaly and delayed myelination that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26307567 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27120463 "DO"] synonym: "HLD12" EXACT [] synonym: "neuroaxonal dystrophy, VPS11-related" EXACT [] xref: MIM:616683 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060797 name: hypomyelinating leukodystrophy 8 alt_id: DOID:9003813 alt_id: MIM:614381 def: "A hypomyelinating leukodystrophy characterized by autosomal recessive inheritance of early childhood onset of cerebellar ataxia, mild intellectual disabilities associated with diffuse hypomyelination and variable development of oligodontia and/or hypogonadotropic hypogonadism that has_material_basis_in compound heterozygous mutation in the POLR3B gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22036171 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22036172 "DO"] synonym: "4H leukodystrophy 2" EXACT [] synonym: "cerebellar hypoplasia with endosteal sclerosis" EXACT [] synonym: "ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME" EXACT [] synonym: "HLD8" EXACT [] synonym: "hypomyelinating leukodystrophy 8 with hypodontia and hypogonadotropic hypogonadism" NARROW [] synonym: "hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism" EXACT [] xref: MESH:C535353 xref: NCI:C180850 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:4254 ! osteosclerosis is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:0060798 name: hypomyelinating leukodystrophy 6 def: "A hypomyelinating leukodystrophy characterized by infant or early childhood onset of delayed motor development and gait instability, followed by extrapyramidal movement disorders, progressive spastic tetraplegia, ataxia, hypomyelination, cerebellar atrophy, and atrophy or disappearance of the putamen that has_material_basis_in heterozygous mutation in the TUBB4A gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23582646 "DO"] synonym: "H-ABC" EXACT [] synonym: "HABC" EXACT [] synonym: "HLD6" EXACT [] synonym: "hypomyelinating leukodystrophy with atrophy of the basal ganglia and cerebellum" EXACT [] synonym: "hypomyelination with atrophy of basal ganglia and cerebellum" EXACT [] xref: MESH:C567314 xref: MIM:612438 xref: MONDO:0012905 xref: NCI:C183310 xref: ORDO:139441 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0060799 name: syndromic X-linked intellectual disability Lubs type alt_id: DOID:0080713 alt_id: MIM:300260 def: "A syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability, infantile hypotonia, mild dysmorphic features, poor speech development, autistic features, seizures, progressive spasticity, and recurrent infections in males that has_material_basis_in duplication or triplication of the MECP2 gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/mecp2-duplication-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15689435 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425814 "DO"] synonym: "Lubs X-linked mental retardation syndrome" EXACT [] synonym: "MECP2 duplication syndrome" EXACT [] synonym: "MRXSL" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Lubs type" EXACT [] synonym: "syndromic X-linked mental retardation, Lubs type" EXACT [] synonym: "trisomy Xq28" EXACT [] synonym: "X-linked intellectual disability-hypotonia-recurrent infections syndrome" EXACT [] synonym: "X-linked mental retardation, Lubs type" EXACT [] synonym: "X-linked mental retardation with recurrent respiratory infections" EXACT [] synonym: "XLMR syndrome, Lubs type" EXACT [] xref: GARD:9781 xref: MESH:C537723 xref: NCI:C126747 xref: ORDO:85281 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0080712 ! gene duplication disease [Term] id: DOID:0060800 name: syndromic X-linked intellectual disability 5 alt_id: MIM:304340 alt_id: RDO:0001074 alt_id: RDO:0013418 def: "A syndromic X-linked intellectual disability characterized by intellectual disability and variable features including; choreoathetosis, hydrocephalus, Dandy-Walker malformation, seizures, and iron or calcium deposition in the brain that has_material_basis_in mutation in the AP1S2 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19377476 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23756445 "DO"] synonym: "Dandy-Walker malformation with mental retardation, basal ganglia disease, and seizures" EXACT [] synonym: "Fried syndrome" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED 59" EXACT [] synonym: "mental retardation, X-linked syndromic 21" EXACT [] synonym: "mental retardation, X-linked syndromic 5" EXACT [] synonym: "mental retardation, X-linked syndromic, Fried type" EXACT [] synonym: "MRX59" EXACT [] synonym: "MRXS21" EXACT [] synonym: "MRXS5" EXACT [] synonym: "MRXSF" EXACT [] synonym: "Pettigrew syndrome" EXACT [] synonym: "PGS" EXACT [] synonym: "X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome" EXACT [] synonym: "X-linked mental retardation, with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [] synonym: "X-linked metal retardation with Dandy-Walker malformation, basal ganglia disease, and seizures" EXACT [] xref: MESH:C535773 xref: MESH:C564470 xref: NCI:C124839 xref: ORDO:1568 xref: ORDO:85335 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11832 ! visual epilepsy is_a: DOID:2785 ! Dandy-Walker syndrome is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:0060801 name: MEHMO syndrome def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, epilepsy, microcephaly, hypogenitalism and obesity with variable occurrence of growth delay and diabetes that has_material_basis_in hemizygous mutation in the EIF2S3 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032729 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9781023 "DO"] synonym: "Borck type of X-linked syndromic mental retardation" EXACT [] synonym: "MEHMO" EXACT [] synonym: "mental retardation, epileptic seizures, hypogonadism and hypogenitalism, microcephaly, and obesity" EXACT [] synonym: "MRXS20" EXACT [] synonym: "MRXS25" EXACT [] synonym: "MRXSBRK" EXACT [] synonym: "X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome" EXACT [] synonym: "X-linked MEHMO syndrome" EXACT [] synonym: "X-linked mental retardation, syndromic, Borck type" EXACT [] synonym: "X-linked syndromic mental retardation 20" EXACT [] synonym: "X-linked syndromic mental retardation 25" EXACT [] xref: MESH:C537451 xref: MIM:300148 xref: MONDO:0010258 xref: ORDO:85282 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9970 ! obesity [Term] id: DOID:0060802 name: syndromic X-linked intellectual disability Snyder type alt_id: MIM:309583 def: "A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14508504 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23696453 "DO"] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, SNYDER-ROBINSON TYPE" EXACT [] synonym: "MRXSSR" EXACT [] synonym: "SMS-RELATED DISORDER" EXACT [] synonym: "Snyder-Robinson mental retardation syndrome" EXACT [] synonym: "Snyder-Robinson syndrome" EXACT [] synonym: "spermine synthase deficiency" EXACT [] synonym: "SRS" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Snyder-Robinson type" EXACT [] synonym: "X-linked mental retardation, Snyder-Robinson type" EXACT [] xref: GARD:5615 xref: MESH:C536678 xref: ORDO:3063 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060803 name: syndromic X-linked intellectual disability 17 def: "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed motor development, lack of speech development, intellectual disability, alacrima and in some patients achalasia and/or anisocoria that has_material_basis_in variation in the chromosome region Xp21.1-p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21744492 "DO"] synonym: "intellectual disability-alacrima-achalasia syndrome" EXACT [] synonym: "MRXS17" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 17" EXACT [] synonym: "syndromic X-linked mental retardation 17" EXACT [] synonym: "X-linked mental retardation with alacrima and achalasia" EXACT [] xref: MIM:300858 xref: ORDO:289483 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060804 name: syndromic X-linked intellectual disability 12 alt_id: MIM:309545 def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, mutism, epilepsy, growth retardation or failure and recurrent infections that has_material_basis_in variation in the chromosome region Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1357179 "DO"] synonym: "MRXS12" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 12" EXACT [] synonym: "syndromic X-linked mental retardation 12" EXACT [] synonym: "X-linked intellectual disability, Wilson type" EXACT [] xref: MESH:C564106 xref: ORDO:85290 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060805 name: Prieto syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1673297 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3121220 "DO"] synonym: "MRXS2" EXACT [] synonym: "Prieto-Badia-Mulas syndrome" EXACT [] synonym: "Prieto X-linked mental retardation syndrome" EXACT [] synonym: "PRS" EXACT [] synonym: "X-linked dysmorphic syndrome with mental retardation" EXACT [] synonym: "X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome" EXACT [] synonym: "X-linked mental retardation, syndromic 2" EXACT [] synonym: "X-linked mental retardation, with dysmorphism and cerebral atrophy" EXACT [] xref: MESH:C535274 xref: MIM:309610 xref: MONDO:0010667 xref: ORDO:2958 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060806 name: syndromic X-linked intellectual disability Hedera type alt_id: MIM:300423 def: "A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11782983 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15746149 "DO"] synonym: "MRXE" EXACT [] synonym: "MRXSH" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Hedera type" EXACT [] synonym: "syndromic X-linked mental retardation, Hedera type" EXACT [] synonym: "X-linked mental retardation with epilepsy" EXACT [] xref: MESH:C564516 xref: ORDO:93952 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:1826 ! epilepsy [Term] id: DOID:0060807 name: syndromic X-linked intellectual disability Najm type def: "A syndromic X-linked intellectual disability characterized by severe intellectual disability, microcephaly with pontine and cerebellar hypoplasia that has_material_basis_in heterozygous mutation or deletion in the CASK gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19165920 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21954287 "DO"] synonym: "CASK-RELATED DISORDER" BROAD [] synonym: "intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia" EXACT [] synonym: "INTELLECTUAL DISABILITY, CASK-RELATED, X-LINKED" BROAD [] synonym: "Mental Retardation and Microcephaly with Pontine and Cerebellar Hypoplasia" EXACT [] synonym: "MICPCH" EXACT [] synonym: "MICPCH syndrome" EXACT [] synonym: "MRXSNA" EXACT [] synonym: "syndromic X-linked mental retardation, Najm type" EXACT [] synonym: "X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome" EXACT [] xref: EFO:0010954 xref: GARD:12669 xref: MESH:C567466 xref: MIM:300749 xref: MONDO:0010417 xref: ORDO:163937 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:10907 ! microcephaly [Term] id: DOID:0060808 name: syndromic X-linked intellectual disability 7 alt_id: MIM:300218 def: "A syndromic X-linked intellectual disability characterized by intellectual deficit, obesity, hypogonadism, and tapering fingers that has_material_basis_in variation in the chromosome region Xp11.3-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10573017 "DO"] synonym: "Ahmad X-linked mental retardation syndrome" EXACT [] synonym: "MRXS7" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 7" EXACT [] synonym: "syndromic X-linked mental retardation 7" EXACT [] synonym: "X-linked intellectual disability, Ahmad type" EXACT [] xref: GARD:9156 xref: MESH:C537449 xref: ORDO:85274 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060809 name: syndromic X-linked intellectual disability Claes-Jensen type def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioral problems that has_material_basis_in mutation in the KDM5C gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10982473 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15586325 "DO"] synonym: "KDM5C-RELATED CONDITION" EXACT [] synonym: "MRXSCJ" EXACT [] synonym: "MRXSJ" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Claes-Jensen type" EXACT [] synonym: "syndromic X-linked intellectual disability due to JARID1C mutation" EXACT [] synonym: "syndromic X-linked mental retardation, Claes-Jensen type" EXACT [] synonym: "syndromic X-linked mental retardation JARID1C-related" EXACT [] xref: MESH:C564494 xref: MIM:300534 xref: MONDO:0010355 xref: ORDO:85279 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0060810 name: syndromic X-linked intellectual disability type 10 alt_id: MIM:300438 def: "A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10521307 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17236142 "DO"] synonym: "17beta-hydroxysteroid dehydrogenase type 10 deficiency" EXACT [] synonym: "17-Beta-Hydroxysteroid Dehydrogenase X Deficiency" EXACT [] synonym: "2-Methyl-3-Hydroxybutyric Aciduria" EXACT [] synonym: "2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency" EXACT [] synonym: "3-Hydroxy-2-Methylbutyryl-CoA Dehydrogenase Deficiency" EXACT [] synonym: "3-Hydroxyacyl-CoA Dehydrogenase II Deficiency" EXACT [] synonym: "3-Hydroxyacyl-CoA Dehydrogenase, Type 2, Deficiency" EXACT [] synonym: "CAMR" EXACT [] synonym: "Chorioathetosis With Mental Retardation And Abnormal Behavior" EXACT [] synonym: "HSD10 deficiency, atypical type" EXACT [] synonym: "HSD10 disease, atypical type" EXACT [] synonym: "HSD10MD" EXACT [] synonym: "HSD10 MITOCHONDRIAL DISEASE" EXACT [] synonym: "HSD17B10 Deficiency" EXACT [] synonym: "HSD17B10-RELATED DISORDER" EXACT [] synonym: "Hydroxyacyl-CoA Dehydrogenase II Deficiency" EXACT [] synonym: "hydroxyacyl-CoA dehydrogenase type 2 deficiency" EXACT [] synonym: "MHBD deficiency" EXACT [] synonym: "MRXS10" EXACT [] synonym: "syndromic X-linked mental retardation 10" EXACT [] synonym: "X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome" EXACT [] xref: ICD10CM:G25.5 xref: MESH:C564560 xref: ORDO:85295 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:0060811 name: syndromic X-linked intellectual disability Turner type alt_id: DOID:0060829 alt_id: MIM:300612 alt_id: MIM:309590 def: "A syndromic X-linked intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls, macrocephaly, and holoprosencephaly present in some cases that has_material_basis_in mutation in the HUWE1 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252223 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7943042 "DO"] synonym: "Brooks-Wisniewski-Brown syndrome" EXACT [] synonym: "HUWE1-RELATED CONDITION" EXACT [] synonym: "HUWE1-related disorder" BROAD [] synonym: "HUWE1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "JMS" EXACT [] synonym: "Juberg-Marsidi mental retardation syndrome" EXACT [] synonym: "Juberg-Marsidi syndrome" EXACT [] synonym: "mental retardation and macrocephaly syndrome" EXACT [] synonym: "MRXSBWB" EXACT [] synonym: "MRXST" EXACT [] synonym: "MRXS-Turner" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Turner type" EXACT [] synonym: "syndromic X-linked mental retardation, Brooks-Wisniewski-Brown type" EXACT [] synonym: "syndromic X-linked mental retardation, Turner type" EXACT [] synonym: "X-linked intellectual developmental disorder, Turner type" EXACT [] synonym: "X-linked intellectual disability, Brooks type" EXACT [] synonym: "X-linked mental retardation with growth delay, deafness, microgenitalism" EXACT [] synonym: "X-linked mental retardation with growth retardation, deafness, and microgenitalism" EXACT [] xref: MESH:C563154 xref: MESH:C567476 xref: ORDO:3056 xref: ORDO:85328 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:0060812 name: syndromic X-linked intellectual disability Siderius type alt_id: MIM:300263 def: "A syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability, long face and a broad nasal tip with in some cases cleft lip/palate, preaxial polydactyly and cryptorchidism that has_material_basis_in mutation in the PHF8 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398231 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16199551 "DO"] synonym: "MRXSSD" EXACT [] synonym: "Siderius Hamel syndrome" EXACT [] synonym: "Siderius X-linked mental retardation syndrome" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Siderius type" EXACT [] synonym: "syndromic X-linked mental retardation, Siderius type" EXACT [] synonym: "X-linked mental retardation syndrome, Siderius type" EXACT [] xref: MESH:C537333 xref: ORDO:85287 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060813 name: syndromic X-linked intellectual disability Shrimpton type alt_id: MIM:300709 def: "A syndromic X-linked intellectual disability characterized by evere mental retardation, microcephaly, speech delay and variable short stature that has_material_basis_in variation in the chromosomal region Xq12-q21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10331611 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10797443 "DO"] synonym: "MRXS9" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 9" EXACT [] synonym: "syndromic X-linked mental retardation 9" EXACT [] xref: MESH:C567474 xref: ORDO:85324 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:10907 ! microcephaly [Term] id: DOID:0060814 name: Wilson-Turner syndrome alt_id: MIM:309585 def: "A syndromic X-linked intellectual disability characterized by intellectual disability, truncal obesity, gynecomastia, hypogonadism, dysmorphic facial features, and short stature that has_material_basis_in hemizygous mutation in the LAS1L gene on chromosome Xq12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1746601 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25644381 "DO"] synonym: "MRXS6" EXACT [] synonym: "MRXSWT" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Wilson-Turner type" EXACT [] synonym: "syndromic X-linked mental retardation 6" EXACT [] synonym: "Wilson Turner mental retardation syndrome" EXACT [] synonym: "Wilson-Turner X-linked mental retardation syndrome" EXACT [] synonym: "WTS" EXACT [] synonym: "X-linked intellectual disability-gynecomastia-obesity syndrome" EXACT [] synonym: "X-linked mental retardation, with gynecomastia and obesity" EXACT [] xref: GARD:5579 xref: MESH:C536708 xref: ORDO:3459 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12698 ! gynecomastia is_a: DOID:225 ! syndrome is_a: DOID:9970 ! obesity [Term] id: DOID:0060815 name: Miles-Carpenter syndrome alt_id: MIM:314580 def: "A syndromic X-linked intellectual disability characterized by severe intellectual deficit, microcephaly, exotropia, distal muscle wasting and low digital arches that has_material_basis_in variation in chromosomal region Xq13-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2018061 "DO"] synonym: "Contractures of feet, muscle atrophy, and oculomotor apraxia" EXACT [] synonym: "MCS" EXACT [] synonym: "Miles-Carpenter X-linked mental retardation syndrome" EXACT [] synonym: "MRXS4" EXACT [] synonym: "oculomotor apraxia, with congenital contractures and muscle atrophy" EXACT [] synonym: "syndromic X-linked mental retardation 4" EXACT [] synonym: "Wieacker-Wolff syndrome" EXACT [] synonym: "Wieacker-Wolff syndrome (spectrum)" EXACT [] synonym: "WRWF" EXACT [] synonym: "X-linked intellectual disability, Miles-Carpenter type" EXACT [] synonym: "X-linked mental retardation with congenital contractures and low fingertip arches" EXACT [] synonym: "ZC4H2-RELATED X-LINKED INTELLECTUAL DISABILITY" EXACT [] xref: MESH:C536703 xref: MIM:PS314580 xref: MONDO:0025445 xref: ORDO:85283 is_a: DOID:0060135 ! apraxia is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:539 ! ophthalmoplegia is_a: DOID:767 ! muscular atrophy is_a: DOID:9006836 ! Contracture [Term] id: DOID:0060816 name: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome alt_id: MIM:300472 def: "A syndromic X-linked intellectual disability characterized by agenesis of the corpus callosum, intellectual disability, ocular coloboma, micrognathia, sensorineural hearing loss, skeletal anomalies, and short stature that has_material_basis_in mutation in the IGBP1 gene on chromosome Xq13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14556245 "DO"] synonym: "agenesis of corpus callosum with impaired intellectual development, ocular coloboma, and micrognathia" EXACT [] synonym: "agenesis of corpus callosum with mental retardation, ocular coloboma and micrognathia" EXACT [] synonym: "Graham-Cox syndrome" EXACT [] synonym: "IGBP1-RELATED CONDITION" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC 28" EXACT [] synonym: "MRXS28" EXACT [] xref: MESH:C564509 xref: ORDO:52055 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0060817 name: syndromic X-linked intellectual disability 34 def: "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, intellectual disability, impaired speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum that has_material_basis_in mutation in the NONO gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26571461 "DO"] synonym: "macrocephaly-intellectual disability-left ventricular non compaction syndrome" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, MIRCSOF-LANGOUET TYPE" EXACT [] synonym: "MRXS34" EXACT [] synonym: "MRXSML" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 34" EXACT [] synonym: "syndromic X-linked mental retardation 34" EXACT [] xref: MIM:300967 xref: ORDO:466791 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060818 name: syndromic X-linked intellectual disability Abidi type alt_id: MIM:300262 def: "A syndromic X-linked intellectual disability characterized by intellectual disability with variable occurrence of short stature, small head circumference, sloping forehead, hearing loss, abnormally shaped ears, and small testes that has_material_basis_in variation in the chromosomal region Xq13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398233 "DO"] synonym: "MRXSAB" EXACT [] synonym: "short stature, small head circumference, sloping forehead, hearing loss, cupped ears and small testes" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Abidi type" EXACT [] synonym: "syndromic X-linked mental retardation Abidi type" EXACT [] synonym: "X-linked mental retardation, Abidi type" EXACT [] xref: MESH:C535556 xref: ORDO:85273 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0060819 name: syndromic X-linked intellectual disability Chudley-Schwartz type def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability, seizures, dysmorphic facial features and in some older patients slowly progressive unsteady gait and progressive weakness that has_material_basis_in variation in the chromosomal region Xq21.33-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10398239 "DO"] synonym: "MRXSCS" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Chudley-Schwartz type" EXACT [] synonym: "syndromic X-linked mental retardation, Chudley-Schwartz type" EXACT [] synonym: "X-linked mental retardation with seizures, hypogammaglobinemia, and gait disturbance" EXACT [] xref: MIM:300861 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0060820 name: syndromic X-linked intellectual disability Nascimento type def: "A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16909393 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20412111 "DO"] synonym: "MRXS30" EXACT [] synonym: "MRXSN" EXACT [] synonym: "Nascimento form of syndromic X-linked intellectual developmental disorder" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Nascimento type" EXACT [] synonym: "syndromic X-linked mental retardation 30" EXACT [] synonym: "syndromic X-linked mental retardation, Nascimento type" EXACT [] synonym: "X-linked intellectual disability-nail dystrophy-seizures syndrome" EXACT [] xref: MIM:300860 xref: NCI:C202069 xref: ORDO:163956 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060821 name: syndromic X-linked intellectual disability 14 alt_id: MIM:300676 def: "A syndromic X-linked intellectual disability characterized by mild to severe intellectual disability, autistic features, slender build, poor musculature, long, thin face, high-arched palate, high nasal bridge, and pectus deformities that has_material_basis_in mutation in the UPF3B gene on chromosome Xq24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17704778 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22957832 "DO"] synonym: "MRXS14" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 14" EXACT [] synonym: "syndromic X-linked mental retardation 14" EXACT [] xref: MESH:C567063 xref: ORDO:776 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0060822 name: syndromic X-linked intellectual disability Cabezas type def: "A syndromic X-linked intellectual disability characterized by intellectual deficit, muscle wasting, short stature, hypogonadism, and abnormal gait, with variable occurrence of prominent lower lip, kyphosis, joint hyperextensibility, tremor, decreased fine motor coordination and impaired speech that has_material_basis_in mutation in the CUL4B gene on chromosome Xq24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10978355 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17236139 "DO"] synonym: "Cabezas syndrome" EXACT [] synonym: "Cabezas syndrome; syndromic X-linked mental retardation 15" EXACT [] synonym: "Cabezas X-Linked Mental Retardation Syndrome" EXACT [] synonym: "CUL4B-RELATED DISORDER" EXACT [] synonym: "mental retardation, X-linked, syndromic 15 (Cabezas type)" EXACT [] synonym: "MRSS" EXACT [] synonym: "MRXS15" EXACT [] synonym: "MRXSC" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Cabezas type" EXACT [] synonym: "syndromic X-linked mental retardation 15" EXACT [] synonym: "syndromic X-linked mental retardation, Cabezas type" EXACT [] synonym: "X-linked mental retardation with brachydactyly and macroglossia" EXACT [] synonym: "X-linked mental retardation with short stature" EXACT [] synonym: "X-linked mental retardation with short stature, hypogonadism, and abnormal gait" EXACT [] synonym: "X-linked mental retardation with short stature, small testes, muscle wasting, and tremor" EXACT [] xref: GARD:13244 xref: MESH:C564527 xref: MESH:C567069 xref: MIM:300354 xref: MONDO:0010306 xref: NCI:C167216 xref: ORDO:85293 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0060823 name: syndromic X-linked intellectual disability 94 alt_id: MIM:300699 def: "A syndromic X-linked intellectual disability characterized by moderate intellectual disability with variable occurrence of asthenic body habitus, dysmorphic features, autistic features, macrocephaly, seizures, myoclonic jerks, and hyporeflexia that has_material_basis_in mutation in the GRIA3 gene on chromosome Xq25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17989220 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19449417 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24721225 "DO"] synonym: "DISRUPTED SLEEP-WAKE CYCLE WITH DEVELOPMENTAL DELAY AND LEARNING DIFFICULTY" EXACT [] synonym: "GRIA3-RELATED CONDITION" EXACT [] synonym: "GRIA3-related disorder" BROAD [] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC 29" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, WU TYPE" EXACT [] synonym: "MRX94" EXACT [] synonym: "MRXS29" EXACT [] synonym: "MRXSW" EXACT [] synonym: "syndromic X-linked intellectual disability due to GRIA3 anomalies" EXACT [] synonym: "Wu-type X-linked syndromic intellectual developmental disorder" EXACT [] synonym: "X-linked mental retardation 94" EXACT [] xref: ICD10CM:F72 xref: MESH:C567479 xref: ORDO:364028 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060824 name: syndromic X-linked intellectual disability Raymond type alt_id: DOID:9007880 alt_id: MESH:C567586 def: "A syndromic X-linked intellectual disability characterized by intellectual disability and marfanoid habitus that has_material_basis_in mutation in the ZDHHC9 gene on chromosome Xq26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17436253 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19377476 "DO"] synonym: "MRXSR" EXACT [] synonym: "syndromic X-linked mental retardation, Raymond type" EXACT [] synonym: "syndromic X-linked mental retardation, Zdhhc9-related" EXACT [] synonym: "X-linked syndromic intellectual developmental disorder Raymond type" EXACT [] xref: ICD10CM:Q87.8 xref: MIM:300799 xref: ORDO:163953 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060825 name: Christianson syndrome alt_id: MESH:C537450 alt_id: MIM:300243 def: "A syndromic X-linked intellectual disability characterized by severe developmental delay, intellectual disability, microcephaly, impaired speech, ataxia, hypotonia and early-onset seizures that has_material_basis_in mutation in the SLC9A6 gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18342287 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20949524 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25044251 "DO"] synonym: "Angelman-Like Syndrome, X-Linked" EXACT [] synonym: "ANGELMAN SYNDROME-LIKE" EXACT [] synonym: "Mental Retardation, Microcephaly, Epilepsy, and Ataxia Syndrome" EXACT [] synonym: "MRXSCH" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Christianson type" EXACT [] synonym: "syndromic X-linked mental retardation, Christianson type" EXACT [] synonym: "X-linked intellectual deficit, South African type" EXACT [] synonym: "X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome" EXACT [] synonym: "X-linked intellectual disability, South African type" EXACT [] xref: GARD:10572 xref: MESH:C567484 xref: NCI:C181001 xref: ORDO:85278 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:10907 ! microcephaly is_a: DOID:1279 ! ocular motility disease is_a: DOID:1826 ! epilepsy is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0060826 name: syndromic X-linked intellectual disability Shashi type alt_id: MIM:300238 def: "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies that has_material_basis_in mutation in the RBMX gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10677307 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25256757 "DO"] synonym: "MRXS11" EXACT [] synonym: "MRXSSH" EXACT [] synonym: "orofaciodigital syndrome, Shashi type" EXACT [] synonym: "Shashi X-linked mental retardation syndrome" EXACT [] synonym: "SMRXS" EXACT [] synonym: "syndromic intellectual developmental disorder 11, Shashi type" EXACT [] synonym: "syndromic X-linked intellectual disability type 11" EXACT [] synonym: "syndromic X-linked mental retardation 11" EXACT [] synonym: "syndromic X-linked mental retardation 11, Shashi type" EXACT [] synonym: "X-linked mental retardation, Shashi type" EXACT [] xref: MESH:C537135 xref: ORDO:85286 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060827 name: X-linked intellectual disability-psychosis-macroorchidism syndrome alt_id: DOID:9006524 alt_id: MIM:300055 def: "A syndromic X-linked intellectual disability characterized by moderate intellectual deficit, manic-depressive psychosis, pyramidal signs and macroorchidism that has_material_basis_in mutation in the MECP2 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10986043 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8651288 "DO"] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 16" EXACT [] synonym: "Lindsay-Burn syndrome" EXACT [] synonym: "mental retardation with psychosis, pyramidal signs, and macroorchidism" EXACT [] synonym: "MRX16" EXACT [] synonym: "MRX79" EXACT [] synonym: "MRXS13" EXACT [] synonym: "PPM-X" EXACT [] synonym: "PPMX" EXACT [] synonym: "Ppm-X Syndrome" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 13" EXACT [] synonym: "syndromic X-linked mental retardation 13" EXACT [] synonym: "X-linked mental retardation 16" EXACT [] synonym: "X-linked mental retardation 79" EXACT [] synonym: "X-linked mental retardation, with spasticity" EXACT [] xref: ICD10CM:F71.1 xref: MESH:C563139 xref: MESH:C564724 xref: MESH:C566876 xref: MESH:C566877 xref: ORDO:3077 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2468 ! psychotic disorder is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:0060828 name: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome def: "A syndromic X-linked intellectual disability characterized by intellectual disability, delayed psychomotor development, seizures, large joint contractures, cardiac abnormalities, and abnormal positioning of the thumbs that has_material_basis_in mutation in the CLIC2 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22814392 "DO"] synonym: "MRXS32" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 32" EXACT [] synonym: "syndromic X-linked mental retardation 32" EXACT [] xref: MIM:300886 xref: ORDO:324410 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0060830 name: deafness-intellectual disability, Martin-Probst type syndrome alt_id: MIM:300519 def: "A syndromic X-linked intellectual disability characterized by severe bilateral deafness, intellectual disability, umbilical hernia and abnormal dermatoglyphics that has_material_basis_in variation on the X chromosome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11073537 "DO"] synonym: "Martin-Probst Deafness-Mental Retardation Syndrome" EXACT [] synonym: "Martin-Probst syndrome" EXACT [] synonym: "MRXSMP" EXACT [] synonym: "syndromic X-linked mental retardation, Martin-Probst type" EXACT [] xref: MESH:C564495 xref: ORDO:85321 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060831 name: Griscelli syndrome def: "An integumentary system disease characterized by silvery gray sheen of the hair and hypopigmentation of the skin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/707528 "DO"] synonym: "Chediak-Higashi-like syndrome" EXACT [] synonym: "Chédiak-Higashi-like syndrome" EXACT [] synonym: "Griscelli disease" EXACT [] synonym: "Griscelli-Prunieras syndrome" EXACT [] synonym: "Griscelli-Pruniéras syndrome" EXACT [] synonym: "partial albinism-immunodeficiency syndrome" EXACT [] xref: GARD:10913 xref: MIM:PS214450 xref: ORDO:381 is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10123 ! pigmentation disease is_a: DOID:3263 ! piebaldism is_a: DOID:612 ! primary immunodeficiency disease created_by: rgd creation_date: 2017-01-26T00:00:00Z [Term] id: DOID:0060832 name: Griscelli syndrome type 1 def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has_material_basis_in mutations in the MYO5A gene on chromosome 15q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9207796 "DO"] synonym: "Griscelli-Prunieras syndrome type 1" EXACT [] synonym: "Griscelli-Pruniéras syndrome type 1" EXACT [] synonym: "Griscelli syndrome, cutaneous and neurological type" EXACT [] synonym: "Griscelli syndrome, cutaneous and neurologic type" EXACT [] synonym: "Griscelli syndrome with neurological impairment" EXACT [] synonym: "Griscelli syndrome with neurologic impairment" EXACT [] synonym: "GS1" EXACT [] synonym: "hypopigmentation-neurologic impairment syndrome" EXACT [] synonym: "Partial albinism and primary neurologic disease without hemophagocytic syndrome" EXACT [] xref: GARD:2566 xref: MESH:C537301 xref: MIM:214450 xref: MONDO:0008962 xref: ORDO:79476 is_a: DOID:0060831 ! Griscelli syndrome [Term] id: DOID:0060833 name: Griscelli syndrome type 2 def: "A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and immunodeficiency with or without neurologic impairment that has_material_basis_in mutation in the RAB27A gene on chromosome 15q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12452176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/707528 "DO"] synonym: "Griscelli-Prunieras syndrome type 2" EXACT [] synonym: "Griscelli-Pruniéras syndrome type 2" EXACT [] synonym: "Griscelli syndrome with hemophagocytic syndrome" EXACT [] synonym: "GS2" EXACT [] synonym: "hypopigmentation-immunodeficiency with or without neurologic impairment syndrome" EXACT [] synonym: "PAID syndrome" EXACT [] synonym: "Partial albinism and immunodeficiency" EXACT [] synonym: "partial albinism and immunodeficiency syndrome" EXACT [] synonym: "partial albinism with immunodeficiency" EXACT [] xref: GARD:4483 xref: MESH:C537302 xref: MIM:607624 xref: MONDO:0011872 xref: NCI:C111814 xref: ORDO:79477 is_a: DOID:0060831 ! Griscelli syndrome [Term] id: DOID:0060834 name: Griscelli syndrome type 3 def: "A Griscelli syndrome characterized by isolated silvery gray sheen of the hair and hypopigmentation of the skin that has_material_basis_in mutation in the MLPH or MYO5A genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12148598 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12897212 "DO"] synonym: "Griscelli-Prunieras syndrome type 3" EXACT [] synonym: "Griscelli-Pruniéras syndrome type 3" EXACT [] synonym: "GS3" EXACT [] synonym: "Hypomelanosis with no immunologic or neurologic manifestations" EXACT [] xref: GARD:9715 xref: MESH:C537303 xref: MIM:609227 xref: MONDO:0012220 xref: ORDO:79478 is_a: DOID:0060831 ! Griscelli syndrome [Term] id: DOID:0060835 name: isolated microphthalmia 6 def: "An isolated microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15823920 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21397065 "DO"] synonym: "MCOP6" EXACT [] synonym: "posterior nonsyndromic microphthalmia" EXACT [] xref: MIM:613517 xref: ORDO:2542 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060836 name: isolated microphthalmia 4 def: "An isolated microphthalmia that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19129173 "DO"] synonym: "MCOP4" EXACT [] xref: MESH:C567757 xref: MIM:613094 xref: MONDO:0013130 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060837 name: isolated microphthalmia 5 alt_id: MIM:611040 def: "An isolated microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17167404 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18554571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19753314 "DO"] synonym: "MCOP5" EXACT [] synonym: "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" EXACT [] synonym: "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" EXACT [] xref: ICD10CM:Q15.8 xref: MESH:C567024 xref: ORDO:251279 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:13561 ! optic disk drusen [Term] id: DOID:0060838 name: isolated microphthalmia 7 def: "An isolated microphthalmia characterized by unilateral microphthalmia that has_material_basis_in caused by mutation in the GDF3 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19864492 "DO"] synonym: "MCOP7" EXACT [] xref: ICD10CM:Q11.0 xref: MIM:613704 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060839 name: isolated microphthalmia 2 alt_id: MIM:610093 def: "An isolated microphthalmia characterized by autosomal recessive inheritance of bilateral profound microphthalmia without associated anomalies and with normal intelligence that has_material_basis_in homozygous mutation in the CHX10 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15257456 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3378363 "DO"] synonym: "isolated clinical anophthalmia" EXACT [] synonym: "MCOP2" EXACT [] synonym: "VSX2-RELATED CONDITION" BROAD [] xref: MESH:C566446 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060840 name: isolated microphthalmia 1 alt_id: MIM:251600 def: "An isolated microphthalmia that has_material_basis_in variation in the chromosomal region 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9545413 "DO"] synonym: "autosomal recessive microphthalmos" EXACT [] synonym: "isolated clinical anophthalmia" EXACT [] synonym: "MCOP" EXACT [] synonym: "MCOP1" EXACT [] xref: MESH:C565377 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060841 name: isolated microphthalmia 8 def: "An isolated microphthalmia characterized by bilateral severe microphthalmia autosomal recessive inheritance of that has_material_basis_in homozygous mutation in the ALDH1A3 gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23312594 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23591992 "DO"] synonym: "MCOP8" EXACT [] xref: MIM:615113 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060842 name: isolated microphthalmia 3 alt_id: MIM:611038 def: "An isolated microphthalmia characterized by clinical anophthalmia and/or microphthalmia that has_material_basis_in compound heterozygous mutation in the RAX gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14662654 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18783408 "DO"] synonym: "MCOP3" EXACT [] xref: MESH:C567025 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080637 ! isolated microphthalmia [Term] id: DOID:0060843 name: hereditary neuropathy with liability to pressure palsies def: "A neuropathy characterized by autosomal dominant inheritance of peroneal muscle weakness, peripheral neuropathy, hyporeflexia, tomacula, segmental demyelination/remyelination, decreased motor nerve conduction that has_material_basis_in deletion or point mutation of the PMP22 gene on chromosome 17p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12682341 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2540008 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8422677 "DO"] synonym: "compression neuropathy" EXACT [] synonym: "current pressure-sensitive neuropathy" EXACT [] synonym: "familial pressure sensitive neuropathy" EXACT [] synonym: "familial recurrent polyneuropathy" EXACT [] synonym: "hereditary liability to pressure palsies" EXACT [] synonym: "hereditary neuropathy with liability to pressure palsy" EXACT [] synonym: "hereditary pressure sensitive neuropathy" EXACT [] synonym: "heterozygous microdeletion 17p11.2p12" EXACT [] synonym: "HNPP" EXACT [] synonym: "inherited tendency to pressure palsies" EXACT [] synonym: "potato-grubbing palsy" EXACT [] synonym: "tomaculous neuropathy" EXACT [] synonym: "tulip-bulb digger's palsy" EXACT [] xref: GARD:5221 xref: MESH:C536965 xref: MIM:162500 xref: MONDO:0008087 xref: ORDO:640 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:2477 ! motor peripheral neuropathy [Term] id: DOID:0060844 name: Norrie disease def: "A syndrome characterized by degenerative and proliferative changes of the neuroretina resulting in congenital blindness along with progressive mental disorders in about 50% of patients and sensorineural deafness in about 33% of patients, and that has_material_basis_in mutation in the NDP gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1303235 "DO", https://www.ncbi.nlm.nih.gov/pubmed/13998843 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7627181 "DO"] synonym: "Anderson-Warburg syndrome" EXACT [] synonym: "atrophia bulborum hereditaria" EXACT [] synonym: "Congenital Progressive Oculo-Acoustico-Cerebral Degeneration" EXACT [] synonym: "Episkopi blindness" EXACT [] synonym: "Fetal Iritis Syndrome" EXACT [] synonym: "ND" EXACT [] synonym: "Norrie's disease" EXACT [] synonym: "Norrie syndrome" EXACT [] synonym: "Norrie-Warburg disease" EXACT [] synonym: "Norrie-Warburg syndrome" EXACT [] synonym: "Oligophrenia Microphthalmus" EXACT [] synonym: "pseudoglioma" EXACT [] synonym: "pseudoglioma congenita" EXACT [] synonym: "Whitnall-Norman syndrome" EXACT [] xref: GARD:7224 xref: MESH:C537849 xref: MIM:310600 xref: MONDO:0010691 xref: NCI:C118634 xref: ORDO:649 is_a: DOID:0050562 ! West syndrome is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1432 ! blindness is_a: DOID:863 ! nervous system disease [Term] id: DOID:0060847 name: Leri-Weill dyschondrosteosis alt_id: MIM:127300 def: "An osteochondrodysplasia characterized by abnormal shortening of the forearms and lower legs, abnormal misalignment of the wrist (Madelung deformity of the wrist), and associated short stature and has_material_basis_in heterozygous defects in the pseudoautosomal genes SHOX or SHOXY or by deletion of the SHOX downstream regulatory domain. (DO)" [https://rarediseases.org/rare-diseases/leri-weilldyschondrosteosis/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10713888 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21712857 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9590292 "DO"] synonym: "DCO MADELUNG DEFORMITY" NARROW [] synonym: "DYSCHONDROSTEOSIS" NARROW [] synonym: "Leri-Weil syndrome" EXACT [] synonym: "LWD" EXACT [] synonym: "Léri-Weill dyschondrosteosis" EXACT [] xref: GARD:3224 xref: MESH:C537119 xref: NCI:C126560 xref: ORDO:240 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0060848 name: developmental and epileptic encephalopathy 9 alt_id: MIM:300088 def: "A developmental and epileptic encephalopathy characterized by seizure onset in infancy and mild to severe intellectual impairment in females that has_material_basis_in heterozygous mutation in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20830798/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/18469813 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19752159 "DO"] synonym: "convulsive disorder and mental retardation" EXACT [] synonym: "DEE9" EXACT [] synonym: "early infantile epileptic encephalopathy 9" EXACT [] synonym: "early infantile female-limited epilecptic encephalopathy" EXACT [] synonym: "EFMR" EXACT [] synonym: "EIEE9" EXACT [] synonym: "female-restricted epilepsy with mental retardation" EXACT [] synonym: "Juberg-Hellman syndrome" EXACT [] xref: GARD:10806 xref: MESH:C564715 xref: NCI:C201590 xref: ORDO:101039 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0060849 name: osteoporosis-pseudoglioma syndrome def: "A syndrome characterized by congenital or infancy-onset blindness, very low bone mass, decreased trabecular bone volume, severe juvenile-onset osteoporosis and spontaneous fractures, pseudoglioma, microphthalmia that has_material_basis_in homozygous or compound heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11719191 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20034086 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3955877 "DO"] synonym: "ocular form of osteogenesis imperfecta" EXACT [] synonym: "OPPG" EXACT [] synonym: "OPS" EXACT [] synonym: "osteogenesis imperfecta, ocular form" EXACT [] synonym: "osteoporosis with pseudoglioma" EXACT [] synonym: "pseudoglioma with bone fragility" EXACT [] xref: GARD:4160 xref: MESH:C536063 xref: MIM:259770 xref: MONDO:0009820 xref: NCI:C130998 xref: ORDO:2788 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome [Term] id: DOID:0060850 name: annular pancreas def: "A pancreas disease characterized by autosomal dominant inheritance of the annular pancreas (head of the pancreas forming a ring around the second portion of the duodenum) and duodenal stenosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1860255 "DO", https://www.ncbi.nlm.nih.gov/pubmed/677171 "DO"] xref: GARD:705 xref: ICD10CM:Q45.1 xref: MESH:C536376 xref: MIM:167750 xref: MONDO:0008183 xref: NCI:C98813 xref: ORDO:675 is_a: DOID:26 ! pancreas disease [Term] id: DOID:0060851 name: pemphigus vulgaris alt_id: MIM:169610 def: "A pemphigus characterized by autosomal dominant blisters and erosions on the skin and mucous membranes erosions cause by autoantibodies to intercellular cement substance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2217197 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4577497 "DO"] synonym: "familial pemphigus vulgaris" EXACT [] xref: EFO:0004719 xref: GARD:7355 xref: ICD10CM:L10.0 xref: MESH:C536645 xref: NCI:C34910 xref: ORDO:704 is_a: DOID:9182 ! pemphigus [Term] id: DOID:0060852 name: Pierson syndrome alt_id: MIM:609049 def: "A syndrome characterized by nephrotic syndrome with diffuse mesangial sclerosis, proteinuria, microcoria, absence of the pupillary dilator muscle in the iris, ciliary muscle atrophy, and abnormal eye development with lens-shape, retinal and corneal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15367484 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15372515 "DO"] synonym: "congenital nephrotic syndrome with ocular abnormalities and congenital myasthenic syndrome" EXACT [] synonym: "microcoria and congenital nephrotic syndrome" EXACT [] synonym: "microcoria-congenital nephrosis syndrome" EXACT [] synonym: "microcoria-congenital nephrotic syndrome" EXACT [] xref: GARD:9420 xref: MESH:C537185 xref: NCI:C128145 xref: ORDO:2670 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:238 ! pupil disease is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0060853 name: Potocki-Lupski syndrome def: "A chromosomal duplication syndrome characterized by hypotonia, failure to thrive, mental retardation, pervasive developmental disorders and congenital anomalies that has_material_basis_in contiguous gene syndrome caused by duplication of chromosome 17p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10615134 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425816 "DO"] synonym: "17p11.2 microduplication syndrome" EXACT [] synonym: "chromosome 17p11.2 duplication syndrome" EXACT [] synonym: "chromosome 17, trisomy 17p11 2" EXACT [] synonym: "duplication 17p11.2 syndrome" EXACT [] synonym: "duplication 17p11 2" EXACT [] synonym: "Potocki-Lupski syndrome (dup(17)(p11.2p11.2))" EXACT [] synonym: "PTLS" EXACT [] synonym: "trisomy 17p11.2" EXACT [] xref: GARD:10145 xref: MESH:C538355 xref: MIM:610883 xref: MONDO:0012574 xref: NCI:C124846 xref: ORDO:1713 is_a: DOID:9003960 ! Trisomy is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060854 name: autosomal recessive pseudohypoaldosteronism type 1 def: "A pseudohypoaldosteronism characterized by enal salt wasting and high concentrations of sodium in sweat, stool, and saliva that has_material_basis_in homozygous or compound heterozygous mutation in any one of 3 genes encoding subunits of the epithelial sodium channel (ENaC): SCNN1A, SCNN1B, or SCNN1G. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10202170 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10404817 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8589714 "DO"] synonym: "autosomal recessive PHA 1" EXACT [] synonym: "autosomal recessive pseudohypoaldosteronism type I" EXACT [] synonym: "PHA1B" EXACT [] synonym: "recessive pseudohypoaldosteronism type I" EXACT [] xref: GARD:4552 xref: NCI:C123251 xref: ORDO:171876 xref: ORDO:756 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4479 ! pseudohypoaldosteronism created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060855 name: autosomal dominant pseudohypoaldosteronism type 1 alt_id: RDO:9003076 def: "A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9662404 "DO"] synonym: "autosomal dominant PHA 1" EXACT [] synonym: "PHA1A" EXACT [] synonym: "pseudohypoaldosteronism, type I, autosomal dominant" EXACT [] synonym: "pseudohypoaldosteronism, type I, dominant" EXACT [] xref: GARD:9145 xref: MIM:177735 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4479 ! pseudohypoaldosteronism created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0060856 name: right atrial isomerism def: "A visceral heterotaxy that is characterized by complete atrioventricular septal defect with a common atrium and univentricular AV connection, total anomalous pulmonary drainage, and transposition or malposition of the great arteries and that has_material_basis_in homozygous mutation in the GDF1 gene on chromosome 19p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14648004 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20413652 "DO"] synonym: "asplenia with cardiovascular anomalies" RELATED [] synonym: "Ivemark syndrome" EXACT [] synonym: "right atrial isomerisms" EXACT [] synonym: "right atrial isomerism with asplenia" EXACT [] xref: GARD:6795 xref: ICD10CM:Q20.6 xref: ORDO:97548 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0060857 name: septooptic dysplasia alt_id: MIM:182230 def: "A syndrome characterized by the classical triad of optic nerve hypoplasia, pituitary gland hypoplasia and midline brain defects that has_material_basis_in mutation in the HESX1 gene on chromosome 3p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8696006 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9620767 "DO"] synonym: "De Morsier syndrome" EXACT [] synonym: "septo-optic dysplasia" EXACT [] synonym: "septooptic dysplasia, mild" NARROW [] synonym: "septooptic dysplasias" EXACT [] synonym: "septo-optic dysplasia sequence" EXACT [] synonym: "septo optic dysplasia with growth hormone deficiency" EXACT [] synonym: "SOD" EXACT [] xref: GARD:7627 xref: MESH:D025962 xref: NCI:C85063 xref: ORDO:3157 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0060858 name: hypotonia-cystinuria syndrome alt_id: MIM:606407 def: "A syndrome that has_material_basis_in homozygous deletion on chromosome 2p21 that disrupts the SLC3A1 and PREPL genes. The deletion ranges in size from 23.8 to 75.5 kb. Itis characterized_by neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=163690 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11524703 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16385448 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18234729 "DO"] synonym: "cystinuria with mitochondrial disease" EXACT [] synonym: "HOMOZYGOUS 2p16 DELETION SYNDROME" NARROW [] synonym: "HOMOZYGOUS 2p21 DELETION SYNDROME" NARROW [] xref: ICD10CM:E72.0 xref: MESH:C564710 xref: ORDO:163690 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9266 ! cystinuria [Term] id: DOID:0060859 name: salmonellosis def: "A primary bacterial infectious disease caused by the bacteria of the genus Salmonella. It has symptoms diarrhea, fever, vomiting, and abdominal cramps 12 to 72 hours after infection. In most cases, the illness lasts four to seven days, and most people recover without treatment. (DO)" [https://www.cdc.gov/salmonella/general/index.html "DO", https://www.foodsafety.gov/poisoning/causes/bacteriaviruses/salmonella "DO"] synonym: "salmonella infection" EXACT [] synonym: "salmonella infections" EXACT [] synonym: "salmonelloses" EXACT [] xref: EFO:1001418 xref: ICD10CM:A02.0 xref: ICD9CM:003.0 xref: MESH:D012480 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9003491 ! Enterobacteriaceae Infections [Term] id: DOID:0060861 name: microphthalmia with limb anomalies alt_id: MIM:206920 def: "A syndrome that is characterized by autosomal recessive inheritance of bilateral or unilateral clinical anophthalmia or microphthalmia and synostosis, syndactyly, oligodactyly and/or polydactyly that has_material_basis_in homozygous mutation in the SMOC1 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21194678 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6846395 "DO"] synonym: "anophthalmia-syndactyly" EXACT [] synonym: "anophthalmia-syndactyly syndrome" EXACT [] synonym: "anophthalmia Waardenburg syndrome" EXACT [] synonym: "Anophthalmos-syndactyly" EXACT [] synonym: "anophthalmos with limb anomalies" EXACT [] synonym: "MLA" EXACT [] synonym: "OAS" EXACT [] synonym: "ophthalmoacromelic syndrome" EXACT [] xref: MESH:C537769 xref: ORDO:1106 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0060862 name: mal de Meleda alt_id: DOID:9006003 def: "A palmoplantar keratosis characterized by autosomal recessive inheritance of symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet and ichthyotic changes elsewhere that has_material_basis_in homozygous mutation in the SLURP1 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11285253 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9887370 "DO"] synonym: "HEREDITARY PALMOPLANTAR KERATODERMA, GAMBORG-NIELSEN TYPE" EXACT [] synonym: "keratosis palmoplantaris transgrediens of Siemens" EXACT [] synonym: "MDM" EXACT [] synonym: "Meleda disease" EXACT [] synonym: "palmoplantar keratoderma, Gamborg Nielsen type" EXACT [] synonym: "palmoplantar keratoderma, Norrbotten recessive type" EXACT [] synonym: "palmoplantar keratoderma, Norrbotten type" EXACT [] synonym: "PPK, Gamborg-Nielsen type" EXACT [] synonym: "PPKGN" EXACT [] synonym: "PPKNR" EXACT [] synonym: "transgrediens palmoplantar keratoderma of Siemens" EXACT [] xref: GARD:92 xref: ICD10CM:Q82.8 xref: MESH:C565454 xref: MIM:248300 xref: MONDO:0009552 xref: ORDO:86923 xref: ORDO:87503 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3390 ! palmoplantar keratosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060863 name: patterned macular dystrophy alt_id: RDO:0001837 def: "A macular degeneration characterized by abnormal accumulation of lipofuscin in the retinal pigment epithelium in a distinct pattern, patterns include; reticular ('fishnet-like'), macroreticular ('spider-shaped'), and butterfly-shaped. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22466463 "DO"] synonym: "butterfly dystrophy of retinal pigment epithelium" EXACT [] synonym: "butterfly-shaped pigmentary macular dystrophy" EXACT [] synonym: "butterfly-shaped pigment dystrophy of the fovea" EXACT [] synonym: "patterned dystrophy of retinal pigment epithelium" EXACT [] xref: MESH:C536309 xref: MIM:PS169150 xref: ORDO:99001 is_a: DOID:14252 ! dystrophies primarily involving the retinal pigment epithelium is_a: DOID:4448 ! macular degeneration [Term] id: DOID:0060864 name: patterned macular dystrophy 2 alt_id: RDO:9004328 def: "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the CTNNA1 gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12724643 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26691986 "DO"] synonym: "butterfly-shaped pigmentary macular dystrophy 2" EXACT [] synonym: "butterfly-shaped pigmentary maculary dystrophy 2" EXACT [] synonym: "MDPT2" EXACT [] xref: MIM:608970 is_a: DOID:0060863 ! patterned macular dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060865 name: patterned macular dystrophy 3 def: "A patterned macular dystrophy characterized by a 'dry desert land' pattern of the fundus, involving the posterior pole initially and progressing from the temporal fovea to the periphery of the retina developing in the fourth or fifth decade of life that has_material_basis_in heterozygous mutation in the MAPKAPK3 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26744326 "DO"] synonym: "MAPKAPK3-RELATED CONDITION" EXACT [] synonym: "MARTINIQUE CRINKLED RETINAL PIGMENT EPITHELIOPATHY" EXACT [] synonym: "MDPT3" EXACT [] xref: MIM:617111 is_a: DOID:0060863 ! patterned macular dystrophy created_by: rgd creation_date: 2017-05-04T00:00:00Z [Term] id: DOID:0060866 name: patterned macular dystrophy 1 alt_id: RDO:9004327 def: "A patterned macular dystrophy characterized by bilateral accumulation of pigmented or yellowish material at the level of the retinal pigment epithelium in lesions that resemble the wings of a butterfly that has_material_basis_in heterozygous mutation in the PRPH2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8251014 "DO"] synonym: "butterfly-shaped pigmentary maculary dystrophy 1" EXACT [] synonym: "MDPT1" EXACT [] xref: MIM:169150 is_a: DOID:0060863 ! patterned macular dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0060867 name: macrocephaly-autism syndrome alt_id: MIM:605309 def: "A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15805158 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1719811 "DO"] synonym: "autism spectrum disorder (ASD) with macrocephaly" EXACT [] synonym: "autism spectrum disorder and macrocephaly" EXACT [] synonym: "macrocephaly-intellectual disability-autism syndrome" EXACT [] xref: MESH:C565342 xref: ORDO:210548 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12849 ! autistic disorder is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:0060868 name: leukoencephalopathy with vanishing white matter def: "A leukodystrophy characterized by variable neurologic features resulting from deficiency in astrocyte maturation, including progressive cerebellar ataxia, spasticity, and cognitive impairment associated with white matter lesions on brain imaging with onset from early infancy to adulthood. (DO)" [https://medlineplus.gov/genetics/condition/leukoencephalopathy-with-vanishing-white-matter/ "DO", https://pubmed.ncbi.nlm.nih.gov/11835386/ "DO", https://pubmed.ncbi.nlm.nih.gov/15136673/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/11704758 "DO"] synonym: "CACH" EXACT [] synonym: "CACH/VWM" EXACT [] synonym: "childhood ataxia with central nervous system hypomyelination" EXACT [] synonym: "childhood ataxia with central nervous system hypomyelinization" EXACT [] synonym: "ovarioleukodystrophy" NARROW [] synonym: "vanishing white matter leukodystrophy" EXACT [] synonym: "vanishing white matter leukodystrophy with ovarian failure" EXACT [] synonym: "VWM" EXACT [] xref: GARD:231 xref: MESH:C565836 xref: MIM:PS603896 xref: NCI:C122664 xref: ORDO:135 xref: ORDO:157713 xref: ORDO:157716 xref: ORDO:157719 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:1100 ! ovarian disease is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0060869 name: late-onset retinal degeneration alt_id: MIM:605670 def: "A retinal degeneration characterized by autosomal dominant inheritance of night blindness and drusen deposits, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy with onset in the fifth to sixth decade of life that has_material_basis_in heterozygous mutation in the C1QTNF5 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12944416 "DO"] synonym: "late-onset retinal degeneration, autosomal dominant" EXACT [] synonym: "LORD" EXACT [] xref: GARD:4357 xref: MESH:C565309 xref: NCI:C202070 xref: ORDO:67042 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0060870 name: isolated growth hormone deficiency alt_id: OMIA:000307 def: "A hypopituitarism characterized by abnormally low levels, absence or impaired function of growth hormone in the absence of abnormalities in other pituitary hormones. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"] synonym: "congenital IGHD" EXACT [] synonym: "congenital isolated GH deficiency" EXACT [] synonym: "congenital isolated growth hormone deficiency" EXACT [] synonym: "familial isolated growth hormone deficiency" EXACT [] synonym: "GROWTH HORMONE DEFICIENCY" BROAD [] synonym: "Growth Hormone Deficiency Dwarfism" EXACT [] synonym: "Hypophysial Dwarf" EXACT [] synonym: "Hyposomatotrophic Dwarfism" EXACT [] synonym: "IGHD" EXACT [] synonym: "Isolated GH Deficiency" EXACT [] synonym: "Isolated HGH Deficiency" EXACT [] synonym: "Isolated Human Growth Hormone Deficiency" EXACT [] synonym: "Isolated Somatotropin Deficiency" EXACT [] synonym: "Isolated Somatotropin Deficiency Disorder" EXACT [] synonym: "non-acquired isolated growth hormone deficiency" EXACT [] synonym: "Pituitary Dwarf" EXACT [] synonym: "pituitary dwarfism" EXACT [] synonym: "pituitary nanism" EXACT [] xref: EFO:1001109 xref: GARD:12556 xref: ICD9CM:253.3 xref: MESH:D004393 xref: MIM:PS262400 xref: NCI:C34555 xref: ORDO:631 is_a: DOID:9007661 ! Dwarfism is_a: DOID:9007819 ! Endocrine Bone Diseases is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0060871 name: autosomal dominant keratitis-ichthyosis-deafness syndrome def: "A syndrome characterized by congenital deafness, keratopachydermia and constrictions of fingers and toes that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11912510 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11918723 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3579358 "DO"] synonym: "autosomal dominant KID syndrome" EXACT [] synonym: "keratitis, ichthyosis, and deafness (KID) syndrome" EXACT [] synonym: "KID syndrome" EXACT [] xref: ICD10CM:Q80.8 xref: MESH:C536168 xref: MIM:148210 xref: MONDO:0007850 xref: ORDO:477 is_a: DOID:0111383 ! autosomal dominant keratitis is_a: DOID:9005709 ! Keratitis-Ichthyosis-Deafness Syndrome [Term] id: DOID:0060872 name: isolated growth hormone deficiency type II alt_id: MIM:173100 def: "An isolated growth hormone deficiency characterized by autosomal dominant inheritance of low but detectable levels of GH1 resulting in variable degrees of dwarfism which are responsive to growth hormone therapy that has_material_basis_in dominant negative mutations in the GH1 gene on chromosome 17q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15671105 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"] synonym: "congenital IGHD type II" EXACT [] synonym: "congenital isolated GH deficiency type II" EXACT [] synonym: "congenital isolated growth hormone deficiency type II" EXACT [] synonym: "IGHD2" EXACT [] synonym: "IGHD II" EXACT [] synonym: "isolated growth hormone deficiency, autosomal dominant" EXACT [] synonym: "Pituitary Dwarfism Due To Isolated Growth Hormone Deficiency, Autosomal Dominant" EXACT [] xref: MESH:C562704 xref: ORDO:231679 is_a: DOID:0060870 ! isolated growth hormone deficiency [Term] id: DOID:0060873 name: isolated growth hormone deficiency type IA def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of severe dwarfism with onset by 6 months of age and variable development of antibodies to growth hormone following exogenous supplementation that has_material_basis_in null mutations in the GH1 gene on chromosome 17q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16060904 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"] synonym: "IGHD1A" EXACT [] synonym: "IGHD IA" EXACT [] synonym: "ILLIG-TYPE GROWTH HORMONE DEFICIENCY" EXACT [] synonym: "isolated growth hormone deficiency, autosomal recessive" EXACT [] synonym: "Isolated growth hormone deficiency, type 1b" EXACT [] synonym: "nanism due to growth hormone isolated deficiency" EXACT [] synonym: "Pituitary Dwarfism 1" EXACT [] synonym: "Pituitary Dwarfism I" EXACT [] synonym: "PRIMORDIAL DWARFISM" EXACT [] synonym: "sexual ateleiotic dwarfism" EXACT [] xref: MESH:C537404 xref: MIM:262400 xref: MONDO:0009876 xref: ORDO:231662 is_a: DOID:0060870 ! isolated growth hormone deficiency [Term] id: DOID:0060874 name: isolated growth hormone deficiency type IB def: "An isolated growth hormone deficiency characterized by autosomal recessive inheritance of low but detectable levels of GH, short stature, significantly retarded bone age, and a positive response and immunologic tolerance to growth hormone therapy that has_material_basis_in mutation in the GH1 or GHRHR genes on chromosomes 17q23.3 and 7p14.3, respectively. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10678654 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8528260 "DO"] synonym: "congenital IGHD type IB" EXACT [] synonym: "congenital isolated GH deficiency type IB" EXACT [] synonym: "congenital isolated growth hormone deficiency type IB" EXACT [] synonym: "dwarfism of Sindh" EXACT [] synonym: "idiopathic growth hormone deficiency" EXACT [] synonym: "IGHD1B" EXACT [] synonym: "IGHD IB" EXACT [] xref: MESH:C567564 xref: MIM:612781 xref: MIM:618157 xref: MONDO:0013006 xref: ORDO:231671 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:0060875 name: isolated growth hormone deficiency type III alt_id: MIM:307200 alt_id: RDO:0002930 def: "An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8013627 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO"] synonym: "Agammaglobulinemia and isolated growth hormone deficiency, X-linked" EXACT [] synonym: "congenital IGHD type III" EXACT [] synonym: "congenital isolated GH deficiency type III" EXACT [] synonym: "congenital isolated growth hormone deficiency type III" EXACT [] synonym: "Fleisher syndrome" EXACT [] synonym: "Growth Hormone Deficiency with Hypogammaglobulinemia" EXACT [] synonym: "Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked" EXACT [] synonym: "IGHD3" EXACT [] synonym: "IGHD III" EXACT [] synonym: "Isolated growth hormone deficiency, type 3" EXACT [] synonym: "Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia" EXACT [] synonym: "X-LINKED AGAMMAGLOBULINEMIA WITH GROWTH HORMONE DEFICIENCY" EXACT [] synonym: "X-linked IGHD" EXACT [] synonym: "X-linked isolated growth hormone deficiency" EXACT [] xref: GARD:3921 xref: MESH:C537149 xref: ORDO:231692 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0060877 name: bullous congenital ichthyosiform erythroderma alt_id: MIM:146800 def: "An ichthyosis characterized by congenital erythema and widespread skin blistering, blisters develop into gray hyperkeratoses with a lichenified appearance, and that has_material_basis_in heterozygous mutation in the KRT2 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4247927 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7524919 "DO"] synonym: "bullous type ichthyoses" EXACT [] synonym: "bullous type ichthyosis" EXACT [] synonym: "bullous type ichthyosis of Siemens" EXACT [] synonym: "bullous type of ichthyosis" EXACT [] synonym: "IBS" EXACT [] synonym: "ichthyosis bullosa of Siemens" EXACT [] synonym: "ichthyosis exfoliativa" NARROW [] synonym: "KRT2-RELATED CONDITION" EXACT [] synonym: "Siemens ichthyosis bullosa" EXACT [] synonym: "superficial epidermolytic ichthyosis" EXACT [] xref: GARD:2966 xref: MESH:D053560 xref: NCI:C84777 xref: ORDO:455 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1697 ! ichthyosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0060878 name: hypoparathyroidism-deafness-renal disease syndrome alt_id: MIM:146255 def: "A chromosomal deletion syndrome that is characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure and that has_material_basis_in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10935639 "DO", https://www.ncbi.nlm.nih.gov/pubmed/874665 "DO"] synonym: "Barakat syndrome" EXACT [] synonym: "GATA3-RELATED CONDITION" EXACT [] synonym: "HDR" EXACT [] synonym: "HDRS" EXACT [] synonym: "HDR syndrome" EXACT [] synonym: "hypoparathyroidism, sensorineural deafness, and renal disease" EXACT [] synonym: "hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome" EXACT [] synonym: "nephrosis, nerve deafness, and hypoparathyroidism" EXACT [] xref: MESH:C537907 xref: NCI:C130983 xref: ORDO:2237 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:11199 ! hypoparathyroidism is_a: DOID:2527 ! nephrosis [Term] id: DOID:0060879 name: primary hypomagnesemia alt_id: MESH:C537153 def: "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18818955 "DO"] synonym: "defect in renal tubular transport of magnesium" NARROW [] synonym: "familial hypomagnesemia with hypercalciuria and nephrocalcinosis" EXACT [] synonym: "HOMG" EXACT [] synonym: "hypomagnesemia" BROAD [] synonym: "HYPOMAGNESEMIA, FAMILIAL, WITH HYPERCALCIURIA AND NEPHROCALCINOSIS HYPERCALCIURIA, CHILDHOOD, SELF-LIMITING" NARROW [] synonym: "isolated renal hypomagnesemia" NARROW [] synonym: "magnesium deficiencies" EXACT [] synonym: "magnesium deficiency" EXACT [] synonym: "primary familial hypomagnesemia" EXACT [] synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" NARROW [] xref: EFO:1001029 xref: MESH:D008275 xref: MIM:PS602014 xref: ORDO:34526 is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0060880 name: renal hypomagnesemia 3 def: "A hypomagnesemia characterized by autosomal recessive inheritance of excessive urinary Ca(2+) and Mg(2+) excretion that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN16 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10390358 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16501001 "DO"] synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT [] synonym: "FHHNC without severe ocular involvement" EXACT [] synonym: "HOMG3" EXACT [] synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT [] synonym: "renal hypomagnesemia, recessive" RELATED [] synonym: "renal hypomagnesemia type 3" EXACT [] xref: GARD:2906 xref: MIM:248250 xref: MONDO:0009550 xref: ORDO:31043 is_a: DOID:0060879 ! primary hypomagnesemia created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060881 name: renal hypomagnesemia 5 with ocular involvement def: "A hypomagnesemia characterized by autosomal recessive inheritance of renal magnesium wasting with hypercalcinosis, progressive renal failure and severe ocular involvement that has_material_basis_in homozygous mutation in the CLDN19 gene on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17033971 "DO"] synonym: "bilateral macular coloboma with hypercalciuria" EXACT [] synonym: "familial hypomagnesemia with hypercalciuria, nephrocalcinosis and severe ocular involvement" EXACT [] synonym: "FHHNC with severe ocular involvement" EXACT [] synonym: "HOMG5" EXACT [] synonym: "hypercalciuria-bilateral macular coloboma syndrome" EXACT [] synonym: "Idiopathic hypercalciuria with bilateral macular colobomata" EXACT [] synonym: "Meier-Blumberg-Imahorn syndrome" EXACT [] synonym: "renal hypomagnesemia, recessive" RELATED [] synonym: "renal hypomagnesemia with ocular involvement" EXACT [] xref: MESH:C536148 xref: MESH:C565423 xref: MIM:248190 xref: MONDO:0009548 xref: ORDO:2196 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:1056 ! oculocerebrorenal syndrome is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:447 ! renal tubular transport disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0060882 name: renal hypomagnesemia 4 def: "A hypomagnesemia characterized by isolated hypomagnesemia due to renal loss with normal serum calcium levels and urinary calcium excretion that has_material_basis_in homozygous mutation in the EGF gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12584272 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17671655 "DO"] synonym: "HOMG4" EXACT [] synonym: "normocalciuric renal hypomagnesemia" EXACT [] synonym: "renal hypomagnesemia, recessive" RELATED [] xref: MESH:C567127 xref: MIM:611718 xref: MONDO:0012717 xref: ORDO:34527 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0060883 name: intestinal hypomagnesemia 1 def: "A hypomagnesemia characterized by very low serum magnesium levels due to defects in intestinal absorption and kidney excretion and secondary hypocalcemia that has_material_basis_in homozygous or compound heterozygous mutations in the TRPM6 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032568 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12032570 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18818955 "DO"] synonym: "HOMG1" EXACT [] synonym: "HSH" EXACT [] synonym: "hypomagnesemia caused by selective magnesium malabsorption" EXACT [] synonym: "hypomagnesemia intestinal type 1" EXACT [] synonym: "Hypomagnesemia with Secondary Hypocalcemia" EXACT [] synonym: "HYPOMAGNESEMIC TETANY" EXACT [] synonym: "intestinal hypomagnesemia with secondary hypocalcemia" EXACT [] synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [] xref: MESH:C566593 xref: MIM:602014 xref: MONDO:0011176 xref: ORDO:30924 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:9009050 ! Hypocalcemia [Term] id: DOID:0060884 name: renal hypomagnesemia 6 def: "A hypomagnesemia characterized by autosomal dominant inheritance of severely lowered serum magnesium levels without other electrolyte disturbances or abnormalities in urinary magnesium excretion that has_material_basis_in heterozygous mutation in the CNNM2 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21397062 "DO"] synonym: "HOMG6" EXACT [] synonym: "renal hypomagnesemia, dominant" BROAD [] xref: GARD:12155 xref: ICD10CM:E83.4 xref: MIM:613882 xref: MONDO:0013480 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0060885 name: renal hypomagnesemia 2 alt_id: MIM:154020 def: "A hypomagnesemia characterized by autosomal dominant inheritance of hypomagnesemia due to renal magnesium loss that has_material_basis_in heterozygous mutation in the FXYD2 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11062458 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3298795 "DO"] synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" EXACT [] synonym: "HOMG2" EXACT [] synonym: "magnesium loss, isolated renal" EXACT [] synonym: "magnesium wasting, renal" EXACT [] synonym: "renal hypomagnesemia, dominant" BROAD [] xref: GARD:3350 xref: MESH:C537152 xref: ORDO:34528 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0060886 name: osteopathia striata with cranial sclerosis alt_id: MIM:300373 def: "An osteosclerosis characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss in females and fetal or neonatal lethality in males that has_material_basis_in mutation in the AMER1 gene on chromosome Xq11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19079258 "DO"] synonym: "AMER1-RELATED CONDITION" EXACT [] synonym: "hyperostosis generalisata with striations" EXACT [] synonym: "OSCS" EXACT [] synonym: "osteopathia striata cranial sclerosis" EXACT [] synonym: "Robinow-Unger syndrome" EXACT [] xref: MESH:C536053 xref: ORDO:2780 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:0060887 name: ossification of the posterior longitudinal ligament of spine alt_id: MIM:602475 def: "A connective tissue disease characterized by ectopic ossification of the posterior longitudinal spinal ligament resulting in spinal cord compression, myelopathy and hyperreflexia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27374772 "DO"] synonym: "OPLL" EXACT [] xref: EFO:0005895 xref: GARD:9699 xref: MESH:C537143 is_a: DOID:9003781 ! Ossification of Posterior Longitudinal Ligament [Term] id: DOID:0060888 name: transient myeloproliferative syndrome alt_id: MIM:159595 def: "A myeloproliferative neoplasm characterized by leukocytosis in newborns with Down syndrome. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/792759 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6229618 "DO"] synonym: "MST" EXACT [] synonym: "TAM" EXACT [] synonym: "transient abnormal myelopoiesis" EXACT [] synonym: "transient leukemia" EXACT [] synonym: "transient leukemia of Down syndrome" EXACT [] synonym: "transient myeloproliferative disease" EXACT [] synonym: "transient myeloproliferative disorder of Down syndrome" EXACT [] xref: GARD:12765 xref: ICD10CM:D47.7 xref: MESH:C563551 xref: MESH:C566024 xref: ORDO:420611 is_a: DOID:14250 ! Down syndrome is_a: DOID:2226 ! myeloproliferative neoplasm is_a: DOID:9000933 ! Leukemoid Reaction [Term] id: DOID:0060889 name: prune belly syndrome alt_id: MIM:100100 def: "A syndrome that is characterized by megacystis with disorganized detrusor muscle, cryptorchidism, and thin abdominal musculature with overlying lax skin and that has_material_basis_in homozygous mutation in the CHRM3 gene on chromosome 1q43. (DO)" [https://en.wikipedia.org/wiki/Prune_belly_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15912376 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22077972 "DO"] synonym: "abdominal muscle deficiency syndrome" EXACT [] synonym: "absence of abdominal muscles with urinary tract abnormality and cryptorchidism" EXACT [] synonym: "congenital absence of the abdominal muscles" EXACT [] synonym: "Eagle-Barret syndrome" EXACT [] synonym: "Eagle Barrett syndrome" EXACT [] synonym: "EGBRS" EXACT [] synonym: "Obrinsky syndrome" EXACT [] synonym: "Obrisnksy syndrome" EXACT [] synonym: "PBS" EXACT [] synonym: "prune belly syndromes" EXACT [] xref: GARD:7479 xref: ICD10CM:Q79.4 xref: MESH:D011535 xref: NCI:C85033 xref: ORDO:2970 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0060890 name: ectopic Cushing syndrome def: "A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27387249 "DO"] synonym: "Cushing syndrome due to ectopic ACTH secretion" EXACT [] synonym: "ectopic ACTH secreting tumor" EXACT [] xref: ICD10CM:E24.3 xref: ORDO:99889 xref: RDO:9003140 is_a: DOID:446 ! primary hyperaldosteronism is_a: DOID:9005158 ! Cushing Syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0060891 name: Parkinson's disease 19A def: "An early-onset Parkinson's diseas that has_material_basis_in homozygous mutation in the DNAJC6 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22563501 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23211418 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26703368 "DO"] synonym: "juvenile onset Parkinson's disease 19A" EXACT [] synonym: "juvenile onset Parkinson disease 19A" EXACT [] synonym: "PARK19" NARROW [] synonym: "PARK19A" EXACT [] synonym: "PARK19B" NARROW [] synonym: "Parkinson's disease 19B, early-onset" NARROW [] synonym: "Parkinson's disease 19, juvenile-onset" EXACT [] synonym: "Parkinson disease 19B, early-onset" NARROW [] synonym: "Parkinson disease 19, juvenile-onset" EXACT [] xref: MIM:615528 xref: NCI:C198608 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060892 name: late onset Parkinson's disease def: "A Parkinson's disease characterized by onset of motor symptoms typically after 60 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25904081 "DO"] synonym: "late onset Parkinson disease" EXACT [] synonym: "late onset Parkinson disease, hereditary" EXACT [] synonym: "PARK" NARROW [] synonym: "PARK18" NARROW [] synonym: "PARK24" NARROW [] synonym: "Parkinson's disease 18, autosomal dominant, susceptibility to" RELATED [] synonym: "Parkinson's disease, late-onset, susceptibility to" RELATED [] synonym: "Parkinson disease 18, autosomal dominant, susceptibility to" RELATED [] synonym: "Parkinson disease 24, autosomal dominant, susceptibility to" RELATED [] synonym: "Parkinson disease, late-onset, susceptibility to" RELATED [] synonym: "PD" EXACT [] xref: MIM:168600 xref: MIM:614251 xref: MIM:619491 xref: MONDO:0008199 xref: ORDO:411602 is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:0060893 name: juvenile-onset Parkinson's disease def: "An early-onset Parkinson's disease that is characterized by onset of motor symptoms prior to 21 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25904081 "DO"] synonym: "juvenile-onset Parkinson disease" EXACT [] is_a: DOID:0060894 ! early-onset Parkinson's disease created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0060894 name: early-onset Parkinson's disease def: "A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25904081 "DO"] synonym: "early-onset Parkinson disease" EXACT [] synonym: "Young-onset Parkinson disease" EXACT [] xref: MONDO:0017279 xref: ORDO:2828 xref: ORDO:391411 is_a: DOID:14330 ! Parkinson's disease created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:0060895 name: Parkinson's disease 4 alt_id: MIM:605543 def: "A late onset Parkinson disease that has_material_basis_in heterozygous triplication of the alpha-synuclein gene on chromosome 4q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14755720 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17251522 "DO"] synonym: "autosomal dominant Lewy body Parkinson's disease 4" EXACT [] synonym: "autosomal dominant Lewy body Parkinson disease 4" EXACT [] synonym: "autosomal dominant Parkinson's disease 4" EXACT [] synonym: "autosomal dominant Parkinson disease 4" EXACT [] synonym: "PARK4" EXACT [] xref: MESH:C565324 xref: NCI:C198604 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease is_a: DOID:12217 ! Lewy body dementia [Term] id: DOID:0060896 name: Parkinson's disease 23 def: "An early-onset Parkinson disease that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13C gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26942284 "DO"] synonym: "autosomal recessive early-onset Parkinson's disease 23" EXACT [] synonym: "autosomal recessive early-onset Parkinson disease 23" EXACT [] synonym: "PARK23" EXACT [] xref: ICD10CM:G20 xref: MIM:616840 xref: MONDO:0014796 xref: NCI:C203536 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060897 name: Parkinson's disease 17 def: "A late-onset Parkinson disease that has_material_basis_in heterozygous mutation in the VPS35 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21763483 "DO"] synonym: "autosomal dominant Parkinson disease 17" EXACT [] synonym: "PARK17" EXACT [] synonym: "Parkinson disease 17" EXACT [] xref: MIM:614203 xref: MONDO:0013625 xref: NCI:C201520 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0060898 name: Parkinson's disease 20 alt_id: RDO:9000983 def: "An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23804563 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23804577 "DO"] synonym: "early-onset Parkinson's disease 20" EXACT [] synonym: "early-onset Parkinson disease 20" EXACT [] synonym: "PARK20" EXACT [] xref: MIM:615530 xref: NCI:C203535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease [Term] id: DOID:0060900 name: Parkinson's disease 14 def: "A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18570303 "DO"] synonym: "adult-onset dystonia-parkinsonism" BROAD [] synonym: "autosomal recessive Parkinson's disease 14" EXACT [] synonym: "autosomal recessive Parkinson disease 14" EXACT [] synonym: "PARK14" EXACT [] xref: MESH:C567844 xref: MIM:612953 xref: MONDO:0013060 xref: NCI:C201519 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060892 ! late onset Parkinson's disease is_a: DOID:543 ! dystonia [Term] id: DOID:0060901 name: lymphoplasmacytic lymphoma alt_id: DOID:0050747 alt_id: MIM:153600 alt_id: MIM:610430 def: "A B-cell lymphoma characterized by the accumulation of monoclonal cells in the bone marrow and peripheral lymphoid tissues, and associated with the production of serum immunoglobulin M (IgM) monoclonal protein. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10632755 "DO"] synonym: "EFO:0009441" EXACT [] synonym: "familial Waldenstrom's macroglobulinaemia" EXACT [] synonym: "familial Waldenstrom macroglobulinaemia" EXACT [] synonym: "familial Waldenstrom macroglobulinemia" EXACT [] synonym: "familial Waldenstroms macroglobulinaemia" EXACT [] synonym: "immunocytoma" EXACT [] synonym: "lymphoplasmacytic lymphoma with IgM gammopathy" EXACT [] synonym: "Waldenstroem's macroglobulinemia" EXACT [] synonym: "Waldenstrom's Macroglobulinaemia" EXACT [] synonym: "Waldenstrom's macroglobulinemia" EXACT [] synonym: "Waldenstrom Macroglobulinaemia" EXACT [] synonym: "Waldenstrom macroglobulinemia" EXACT [] synonym: "Waldenstrom macroglobulinemia, somatic" RELATED [] synonym: "Waldenstrom macroglobulinemia, susceptibility to, 1" RELATED [] synonym: "Waldenstrom macroglobulinemia, susceptibility to, 2" RELATED [] synonym: "Waldenstroms macroglobulinaemia" EXACT [] synonym: "Waldenstroms macroglobulinemia" EXACT [] synonym: "WM1" RELATED [] synonym: "WM2" RELATED [] xref: EFO:0009441 xref: GARD:7872 xref: ICD10CM:C88.0 xref: ICD9CM:273.3 xref: ICDO:9671/3 xref: MESH:D008258 xref: MIM:PS153600 xref: NCI:C115212 xref: NCI:C3212 xref: NCI:C80307 xref: ORDO:33226 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:6536 ! plasma cell neoplasm is_a: DOID:707 ! B-cell lymphoma is_a: DOID:9003571 ! Paraproteinemias is_a: DOID:9080 ! macroglobulinemia [Term] id: DOID:0060902 name: Norman-Roberts syndrome alt_id: MIM:257320 alt_id: RDO:0003758 def: "A lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10973257 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15083694 "DO"] synonym: "LIS2" EXACT [] synonym: "lissencephaly 2" EXACT [] synonym: "lissencephaly 2 (Norman-Roberts type)" EXACT [] synonym: "lissencephaly syndrome, Norman-Roberts type" EXACT [] synonym: "Norman Roberts lissencephaly syndrome" EXACT [] synonym: "RELN-RELATED CONDITION" BROAD [] xref: MESH:C537848 xref: ORDO:89844 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0060903 name: thrombosis def: "A vascular disease caused by the formation of a blood clot inside a blood vessel, obstructing the flow of blood through the circulatory system. (DO)" [https://en.wikipedia.org/wiki/Thrombosis "DO"] synonym: "Blood Clot" EXACT [] synonym: "Blood Clots" EXACT [] synonym: "Thromboses" EXACT [] synonym: "Thrombus" EXACT [] xref: MESH:D013927 is_a: DOID:178 ! vascular disease is_a: DOID:9001268 ! Embolism and Thrombosis [Term] id: DOID:0060904 name: legume allergy def: "A fruit allergy triggered by Fabaceae (legume) plant fruit or seed food product. (DO)" [https://en.wikipedia.org/wiki/Legume "DO"] synonym: "Fabaceae allergy" EXACT [] is_a: DOID:0060503 ! fruit allergy [Term] id: DOID:0060911 name: karyomegalic interstitial nephritis def: "An interstitial nephritis characterized by nephritis, interstitial fibrosis, and enlarged and atypical tubular epithelial cell nuclei that has_material_basis_in homozygous or compound heterozygous mutation in the FAN1 gene on chromosome 15q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16678356 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22772369 "DO"] synonym: "FAN1-RELATED CONDITION" EXACT [] synonym: "KIN" EXACT [] synonym: "KMIN" EXACT [] xref: GARD:11003 xref: ICD10CM:N11.8 xref: MIM:614817 xref: NCI:C173626 xref: ORDO:401996 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1063 ! interstitial nephritis [Term] id: DOID:0060912 name: craniosynostosis 7 alt_id: DOID:9000082 def: "A craniosynostosis characterized by skull deformity and the inability of the skull's growth to keep up with the developing brain that has_material_basis_in a weakly penetrant heterozygous mutation in the SMAD6 gene on chromosome 15q22, typically with the risk allele of a common variant near the BMP2 gene on chromosome 20p12, resulting in potential intracranial pressure elevation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23438589/ "DO"] synonym: "craniosynostosis 7, digenic" EXACT [] synonym: "Craniosynostosis 7, susceptibility to" RELATED [] synonym: "CRS7" EXACT [] synonym: "CRS7, DIGENIC" EXACT [] xref: MIM:617439 is_a: DOID:0080578 ! digenic disease is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2023-11-30T13:38:11Z [Term] id: DOID:0060913 name: proteosome-associated autoinflammatory syndrome alt_id: DOID:9004752 def: "A syndrome that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25521013/ "DO"] synonym: "proteasome-associated autoinflammatory syndromes" EXACT [] xref: MIM:PS256040 xref: ORDO:324977 is_a: DOID:225 ! syndrome is_a: DOID:811 ! lipodystrophy is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2023-11-30T13:29:04Z [Term] id: DOID:0060914 name: proteosome-associated autoinflammatory syndrome 2 alt_id: DOID:9009201 def: "A proteasome-associated autoinflammatory syndrome that is characterized by severe inflammatory neutrophilic dermatitis, autoimmunity, and variable immunodeficiency and that has_material_basis_in heterozygous mutation in the POMP gene on chromosome 13q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29805043/ "DO"] synonym: "POMP-RELATED CONDITION" EXACT [] synonym: "PRAAS2" EXACT [] xref: MIM:618048 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome created_by: mtutaj creation_date: 2023-11-30T13:45:38Z [Term] id: DOID:0060915 name: proteosome-associated autoinflammatory syndrome 4 alt_id: DOID:9003015 def: "A proteasome-associated autoinflammatory syndrome that is characterized by onset of panniculitis and erythematous skin lesions in early infancy with variable features of lymphadenopathy, myositis, delayed motor and speech development and autoimmune features and that has_material_basis_in compound heterozygous mutation in the PSMG2 gene on chromosome 18p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30664889/ "DO"] synonym: "PRAAS4" EXACT [] synonym: "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 4" EXACT [] xref: MIM:619183 xref: MONDO:0030931 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome created_by: mtutaj creation_date: 2023-11-30T13:45:58Z [Term] id: DOID:0060916 name: proteosome-associated autoinflammatory syndrome 3 alt_id: DOID:9009202 def: "An autosomal recessive syndrome with onset in early infancy. Affected individuals present with nodular dermatitis, recurrent fever, myositis, panniculitis-induced lipodystrophy, lymphadenopathy, and dysregulation of the immune response, particularly associated with abnormal type I interferon-induced gene expression patterns. (OMIM)" [] synonym: "PRAAS3" EXACT [] synonym: "proteosome-associated autoinflammatory syndrome 3, digenic" EXACT [] xref: MIM:617591 xref: MONDO:0054699 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome is_a: DOID:0080578 ! digenic disease created_by: mtutaj creation_date: 2023-11-30T13:46:11Z [Term] id: DOID:0060917 name: facioscapulohumeral muscular dystrophy 3 alt_id: DOID:9005731 def: "A facioscapulohumeral muscular dystrophy characterized by adult onset of proximal muscle weakness affecting the face, neck, scapular muscles, and upper and lower limbs that has_material_basis_in the combination of a homozygous mutation in the LRIF1 gene on chromosome 1p13 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32467133/ "DO"] synonym: "facioscapulohumeral muscular dystrophy 3, digenic" EXACT [] synonym: "facioscapulohumeral muscular dystrophy type 3" EXACT [] synonym: "FSHD3" EXACT [] xref: MIM:619477 is_a: DOID:0080578 ! digenic disease is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy created_by: mtutaj creation_date: 2023-11-30T14:05:40Z [Term] id: DOID:0060918 name: facioscapulohumeral muscular dystrophy 4 alt_id: DOID:9002013 def: "A facioscapulohumeral muscular dystrophy characterized by adult onset of progressive muscle weakness of the face and upper extremity muscles with disease progression that has_material_basis_in the combination of a heterozygous mutation in the DNMT3B gene on chromosome 20q11 and presence of a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27153398/ "DO"] synonym: "facioscapulohumeral muscular dystrophy 4, digenic" EXACT [] synonym: "facioscapulohumeral muscular dystrophy type 4" EXACT [] synonym: "FSHD4" EXACT [] xref: MIM:619478 is_a: DOID:0080578 ! digenic disease is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy created_by: mtutaj creation_date: 2023-11-30T14:05:57Z [Term] id: DOID:0060919 name: proteosome-associated autoinflammatory syndrome 5 alt_id: DOID:9009033 def: "A proteasome-associated autoinflammatory syndrome that is characterized by recurrent, polymorphic disseminated cutaneous rash with annular lesions, non-specific lymphocytic infiltration, fever, failure to thrive, persistent hepatosplenomegaly, emaciated face, long slender fingers, levated acute-phase reactants and microcytic anemia and that has_material_basis_in homozygous mutation in the PSMB10 gene on chromosome 16q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31783057/ "DO"] synonym: "PRAAS5" EXACT [] synonym: "PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 5" EXACT [] xref: MIM:619175 xref: MONDO:0030924 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome created_by: mtutaj creation_date: 2023-11-30T13:52:40Z [Term] id: DOID:0060920 name: otosclerosis 1 alt_id: DOID:9008430 def: "An otosclerosis that is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule and that has_material_basis_in the locus associated with otosclerosis-1 gene (OTSC1) on chromosome 15q26.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9425236/ "DO"] synonym: "OTSC1" EXACT [] xref: MIM:166800 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:18:53Z [Term] id: DOID:0060921 name: otosclerosis 2 alt_id: DOID:9001381 alt_id: MIM:605727 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-2 gene (OTSC2) on chromosome 7q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11170898/ "DO"] synonym: "OTSC2" EXACT [] xref: MESH:C565302 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:21:12Z [Term] id: DOID:0060922 name: otosclerosis 3 alt_id: DOID:9004993 alt_id: MIM:608244 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-3 gene (OTSC3) on loci chromosome 6p. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17568407/ "DO"] synonym: "OTSC3" EXACT [] xref: MESH:C564268 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:23:02Z [Term] id: DOID:0060923 name: otosclerosis 4 alt_id: DOID:9001658 alt_id: MIM:611571 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-4 gene (OTSC4) on loci chromosome 16q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16618911/ "DO"] synonym: "OTSC4" EXACT [] xref: MESH:C566914 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:24:16Z [Term] id: DOID:0060924 name: otosclerosis 5 alt_id: DOID:9004280 alt_id: MIM:608787 def: "An otosclerosis that is characterized by conductive hearing impairment and that has_material_basis_in the locus associated with otosclerosis-5 gene (OTSC5) on loci 3q22-q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15173231/ "DO"] synonym: "OTSC5" EXACT [] xref: MESH:C563858 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:25:38Z [Term] id: DOID:0060925 name: otosclerosis 7 alt_id: DOID:9003581 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-7 gene (OTSC7) on loci chromosome 6q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17213839/ "DO"] synonym: "OTSC7" EXACT [] xref: MESH:C566913 xref: MIM:611572 xref: MONDO:0012697 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:26:52Z [Term] id: DOID:0060926 name: otosclerosis 8 alt_id: DOID:9002286 alt_id: MIM:612096 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-8 gene (OTSC8) on loci chromosome 9p13.1-q21.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17568407/ "DO"] synonym: "OTSC8" EXACT [] xref: MESH:C567421 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:28:09Z [Term] id: DOID:0060927 name: otosclerosis 10 alt_id: DOID:9009114 def: "An otosclerosis that has_material_basis_in the locus associated with otosclerosis-10 gene (OTSC10) on loci chromosome 1q41-q44. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21470211/ "DO"] synonym: "OTSC10" EXACT [] xref: MIM:615589 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:29:40Z [Term] id: DOID:0060928 name: otosclerosis 11 alt_id: DOID:9008970 def: "An otosclerosis that is characterized by onset of progressive hearing loss in the second to third decade of life and that has_material_basis_in the locus associated with Forkhead Box L1 gene (FOXL1) on chromosome 16q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34633540/ "DO"] synonym: "OTSC11" EXACT [] xref: MIM:620576 is_a: DOID:12185 ! otosclerosis created_by: mtutaj creation_date: 2023-12-20T20:31:29Z [Term] id: DOID:0060929 name: non-syndromic X-linked intellectual developmental disorder 111 alt_id: DOID:9007793 def: "A non-syndromic X-linked intellectual disability characterized by different degrees of impaired intellectual development associated with motor, speech and behavioral impairments that has_material_basis_in hemizygous or heterozygous mutation in the SLITRK2 gene on chromosome Xq27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35840571/ "DO"] synonym: "XLID111" EXACT [] synonym: "X-Linked Intellectual Developmental Disorder 111" EXACT [] xref: MIM:301107 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2023-12-20T20:32:46Z [Term] id: DOID:0060930 name: developmental dysplasia of the hip def: "A bone development disease characterized by abnormality of the seating of the femoral head in the acetabulum. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11246461/ "DO"] synonym: "acetabular dysplasia" EXACT [] synonym: "DDH" EXACT [] synonym: "developmental hip dysplasia" EXACT [] xref: EFO:1000648 xref: MESH:D000082602 xref: MIM:PS142700 is_a: DOID:0080006 ! bone development disease is_a: DOID:9005560 ! Congenital Hip Dislocation created_by: mtutaj creation_date: 2024-01-31T10:29:38Z [Term] id: DOID:0060931 name: developmental dysplasia of the hip 1 alt_id: DOID:9004340 def: "A developmental dysplasia of the hip that is characterized by a shallow hip socket and that has_material_basis_in variation in the chromosomal region 13q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11246461/ "DO", https://pubmed.ncbi.nlm.nih.gov/16773577/ "DO"] synonym: "DDH1" EXACT [] xref: MIM:142700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060930 ! developmental dysplasia of the hip created_by: mtutaj creation_date: 2024-01-31T10:29:54Z [Term] id: DOID:0060932 name: developmental dysplasia of the hip 2 alt_id: DOID:9001838 def: "A developmental dysplasia of the hip that is characterized by incomplete formation of the acetabulum leading to dislocation of the femur, suboptimal joint function, and accelerated wear of the articular cartilage, resulting in arthritis and that has_material_basis_in variation in the chromosomal region 3p22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23716478/ "DO"] synonym: "DDH2" EXACT [] xref: MIM:615612 xref: MONDO:0014277 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060930 ! developmental dysplasia of the hip created_by: mtutaj creation_date: 2024-01-31T10:30:06Z [Term] id: DOID:0060933 name: developmental delay, dysmorphic facies, and brain anomalies alt_id: DOID:9003387 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, nonspecific dysmorphic facial features, hypotonia, and impaired overall growth with small head circumference that has_material_basis_in heterozygous mutation in the U2AF2 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34112922/ "DO", https://pubmed.ncbi.nlm.nih.gov/37134193/ "DO", https://pubmed.ncbi.nlm.nih.gov/37962958/ "DO"] synonym: "DEVDFB" EXACT [] xref: MIM:620535 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9001487 ! Facies is_a: DOID:9006534 ! Nervous System Malformations created_by: mtutaj creation_date: 2024-02-28T16:10:10Z [Term] id: DOID:0060934 name: neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy alt_id: DOID:9009122 def: "An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28626029/ "DO", https://pubmed.ncbi.nlm.nih.gov/31687267/ "DO", https://pubmed.ncbi.nlm.nih.gov/35150401/ "DO", https://pubmed.ncbi.nlm.nih.gov/37713627/ "DO"] synonym: "NEDMEBA" EXACT [] synonym: "TRAPPC6B-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:617862 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2024-02-28T16:15:10Z [Term] id: DOID:0060935 name: infantile hypotonia with psychomotor retardation and characteristic facies-3 alt_id: DOID:9006056 def: "An autosomal recessive intellectual developmental disorder characterized by very poor, if any, psychomotor development, poor speech, inability to walk independently and onset at birth or in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the TBCK gene on chromosome 4q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27040691/ "DO", https://pubmed.ncbi.nlm.nih.gov/27040692/ "DO", https://pubmed.ncbi.nlm.nih.gov/30103036/ "DO"] synonym: "IHPRF3" EXACT [] synonym: "SYNDROMIC INFANTILE ENCEPHALOPATHY" EXACT [] synonym: "TBCK-RELATED CONDITION" EXACT [] synonym: "TBCK-RELATED DISORDERS" EXACT [] synonym: "TBCK-related intellectual disability syndrome" EXACT [] xref: MIM:616900 xref: ORDO:488632 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006603 ! Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies created_by: mtutaj creation_date: 2024-02-28T16:18:17Z [Term] id: DOID:0060936 name: dystonia 28, childhood-onset alt_id: DOID:9004049 def: "A dystonia characterized by onset of progressive dystonia in the first decade of life resulting in gait upper limbs, neck, and orofacial region difficulties, elongated face with bulbous nose, some have abnormal eye movements and potential delayed motor and/or cognitive development with mild intellectual disability that has_material_basis_in heterozygous mutation in the KMT2B gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27839873/ "DO", https://pubmed.ncbi.nlm.nih.gov/27992417/ "DO"] synonym: "dystonia 28 childhood-onset" EXACT [] synonym: "DYT28" EXACT [] synonym: "KMT2B-RELATED CONDITION" BROAD [] xref: EFO:0009301 xref: ICD10CM:G24.8 xref: MIM:617284 xref: MONDO:0015004 xref: ORDO:589618 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:41:35Z [Term] id: DOID:0060937 name: dystonia 30 alt_id: DOID:9008352 def: "A dystonia characterized by the onset of symptoms in the first decades of life, with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation and have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations with has_material_basis_in heterozygous mutation in the VPS16 gene on chromosome 20p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27174565/ "DO", https://pubmed.ncbi.nlm.nih.gov/32808683/ "DO"] synonym: "DYT30" EXACT [] synonym: "VPS16-ASSOCIATED DISORDER" EXACT [] xref: MIM:619291 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:44:19Z [Term] id: DOID:0060938 name: dystonia 31 alt_id: DOID:9004381 def: "A dystonia characterized by age at onset ranges from childhood to young adulthood with involuntary muscle twisting movements and postural abnormalities affecting the upper and lower limbs, neck, face, and trunk. Some patients may have orofacial dyskinesia resulting in articulation and swallowing difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the AOPEP gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34596301/ "DO"] synonym: "DYT31" EXACT [] synonym: "Zech-Boesch syndrome" EXACT [] xref: MIM:619565 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:44:33Z [Term] id: DOID:0060939 name: dystonia 32 alt_id: DOID:9000126 def: "A dystonia characterized by onset of symptoms in adulthood, sustained or intermittent muscle contractions causing abnormal movements or posturing. The disorder is slowly progressive with eventual generalized involvement of the limbs, trunk, neck, and larynx, resulting in dysarthria and dysphagia. Brain imaging may show abnormalities in the basal ganglia that has_material_basis_in homozygous mutation in the VPS11 gene on chromosome 11q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33452836/ "DO"] synonym: "DYT32" EXACT [] xref: MIM:619637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:44:50Z [Term] id: DOID:0060940 name: dystonia 33 alt_id: DOID:9007930 def: "A dystonia characterized by a neurologic disorder with onset of focal or generalized dystonia in the first decades of life (from early childhood to adolescence) that has_material_basis_in heterozygous mutation in the EIF2AK2 gene on chromosome 2p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33236446/ "DO"] synonym: "DYT33" EXACT [] xref: MIM:619687 xref: MONDO:0030513 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:50:37Z [Term] id: DOID:0060941 name: interstitial lung disease 1 alt_id: DOID:9002918 def: "An interstitial lung disease characterized by a progressive remodeling of the alveolar interstitium that has_material_basis_in heterozygous mutation in the SFTPA1 gene on chromosome 10q22. (DO)" [https://academic.oup.com/hmg/article/25/8/1457/2384565 "DO", https://pubmed.ncbi.nlm.nih.gov/30854216/ "DO"] synonym: "ILD1" EXACT [] xref: MIM:619611 xref: MONDO:0030608 xref: ORDO:2032 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3082 ! interstitial lung disease created_by: mtutaj creation_date: 2024-04-30T17:01:48Z [Term] id: DOID:0060942 name: Ullrich congenital muscular dystrophy 1B alt_id: DOID:9005971 def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A2 gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23622361/ "DO"] synonym: "UCMD1A/1B, DIGENIC" RELATED [] synonym: "UCMD1B" EXACT [] synonym: "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC" RELATED [] xref: MIM:620727 xref: MONDO:0958235 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy created_by: mtutaj creation_date: 2024-04-30T17:05:05Z [Term] id: DOID:0060943 name: Ullrich congenital muscular dystrophy 1C alt_id: DOID:9006954 def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous or heterozygous mutation in the COL6A3 gene on chromosome 2q37. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23622361/ "DO"] synonym: "UCMD1C" EXACT [] xref: MIM:620728 xref: MONDO:0958236 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy created_by: mtutaj creation_date: 2024-04-30T17:27:06Z [Term] id: DOID:0060944 name: episodic kinesigenic dyskinesia 3 alt_id: DOID:9008127 def: "A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34518509/ "DO"] synonym: "EKD3" EXACT [] xref: MIM:620245 xref: MONDO:0859380 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:51:11Z [Term] id: DOID:0060945 name: amelogenesis imperfecta type 1K alt_id: DOID:9002275 def: "An amelogenesis imperfecta characterized by hypoplastic enamel of all teeth that has_material_basis_in heterozygous mutation in the SP6 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33652941/ "DO"] synonym: "AI1K" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IK" EXACT [] synonym: "Amelogenesis imperfecta, type IK" EXACT [] xref: MIM:620104 xref: MONDO:0031084 is_a: DOID:2187 ! amelogenesis imperfecta created_by: mtutaj creation_date: 2024-05-01T10:27:46Z [Term] id: DOID:0060946 name: Ullrich congenital muscular dystrophy 1A alt_id: DOID:9000534 def: "An Ullrich congenital muscular dystrophy characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the COL6A1 gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23622361/ "DO"] synonym: "COL6A1-RELATED CONDITION" BROAD [] synonym: "UCMD1" RELATED [] synonym: "UCMD1A" EXACT [] synonym: "UCMD1A/1B, DIGENIC" RELATED [] synonym: "Ullrich congenital muscular dystrophy 1" RELATED [] synonym: "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1A/1B, DIGENIC" RELATED [] synonym: "ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1, AUTOSOMAL DOMINANT" NARROW [] xref: MIM:254090 xref: MONDO:0009681 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy created_by: mtutaj creation_date: 2024-05-01T10:57:12Z [Term] id: DOID:0060947 name: autosomal recessive intellectual developmental disorder 82 def: "An autosomal recessive intellectual developmental disorder characterized by global developmental delay with motor and speech delay, variably impaired intellectual development, and behavioral abnormalities has_material_basis_in homozygous mutation in the NSUN6 gene on chromosome 10p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37226891/ "DO"] xref: MIM:620779 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2024-05-01T11:00:09Z [Term] id: DOID:0060948 name: Ullrich congenital muscular dystrophy 2 def: "An Ullrich congenital muscular dystrophy characterized by joint hypermobility, proximal contractures, and muscle weakness precluding ambulation that has_material_basis_in homozygous mutation in the COL12A1 gene on chromosome 6q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24334604/ "DO"] synonym: "COL12A1-RELATED CONDITION" BROAD [] synonym: "COL12A1- RELATED DISORDER" BROAD [] synonym: "UCMD2" EXACT [] xref: MIM:616470 xref: MONDO:0014654 is_a: DOID:0050558 ! Ullrich congenital muscular dystrophy created_by: mtutaj creation_date: 2024-06-18T13:13:32Z [Term] id: DOID:0060949 name: 3-hydroxyisobutryl-CoA hydrolase deficiency alt_id: DOID:9008784 def: "An amino acid metabolic disorder characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the HIBCH gene on chromosome 2q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24299452/ "DO"] synonym: "3-hydroxyisobutyryl-CoA hydrolase deficiency" EXACT [] synonym: "Beta-Hydroxyisobutyryl CoA Deacylase Deficiency" EXACT [] synonym: "HIBCHD" EXACT [] synonym: "HIBCH Deficiency" EXACT [] synonym: "Methacrylic Acid Toxicity" EXACT [] synonym: "Methacrylic Aciduria" EXACT [] synonym: "NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL COENZYME A HYDROLASE DEFICIENCY" EXACT [] synonym: "valine metabolic defect" EXACT [] xref: GARD:13202 xref: MESH:C562803 xref: MIM:250620 xref: MONDO:0009603 xref: ORDO:88639 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-18T13:25:53Z [Term] id: DOID:0060950 name: hypervalinemia and hyperleucine-isoleucinemia alt_id: DOID:9000861 def: "An amino acid metabolic characterized by highly elevated plasma valine and leucine concentrations that has_material_basis_in compound heterozygous mutation in the BCAT2 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25653144/ "DO"] synonym: "branched-chain aminotransferase 2 deficiency" EXACT [] synonym: "BRANCHED-CHAIN AMINOTRANSFERASE DEFICIENCY" EXACT [] synonym: "HVLI" EXACT [] xref: MIM:618850 xref: MONDO:0100058 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008211 ! Valinemia created_by: mtutaj creation_date: 2024-06-18T13:44:32Z [Term] id: DOID:0060951 name: polycystic kidney disease 6 alt_id: DOID:9009199 def: "An autosomal dominant polycystic kidney disease characterized by the development of multiple small renal cysts and progression to renal insufficiency or end-stage renal disease (ESRD) most often after the sixth decade that has_material_basis_in heterozygous mutation in the DNAJB11 gene on chromosome 3q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29706351/ "DO"] synonym: "PKD6" EXACT [] synonym: "Polycystic Kidney Disease 6 with or without Polycystic Liver Disease" EXACT [] xref: MIM:618061 xref: MONDO:0054842 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: mtutaj creation_date: 2024-06-18T13:48:12Z [Term] id: DOID:0060952 name: polycystic kidney disease 7 alt_id: DOID:9006011 def: "A autosomal dominant polycystic kidney disease characterized by the development of small kidney cysts and renal interstitial fibrosis causing adult-onset progressive loss of kidney function leading to end-stage kidney disease after around 60 years of age that has_material_basis_in heterozygous mutation in the ALG5 gene on chromosome 13q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35896117/ "DO"] synonym: "PKD7" EXACT [] xref: MIM:620056 xref: MONDO:0031062 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: mtutaj creation_date: 2024-06-18T13:54:14Z [Term] id: DOID:0060953 name: ZTTK syndrome alt_id: DOID:9005698 def: "A syndrome characterized by delayed psychomotor development and intellectual disability that has_material_basis_in heterozygous mutation in the SON gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27545680/ "DO"] synonym: "SON-RELATED CONDITION" EXACT [] synonym: "Zhu-Tokita-Takenouchi-Kim syndrome" EXACT [] synonym: "ZTTK MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" EXACT [] synonym: "ZTTKS" EXACT [] xref: GARD:13489 xref: MIM:617140 xref: MONDO:0014936 xref: ORDO:500150 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008514 ! Psychomotor Disorders created_by: mtutaj creation_date: 2024-06-18T13:57:23Z [Term] id: DOID:0060954 name: Holoprosencephaly 13, X-linked alt_id: DOID:9008492 def: "A holoprosencephaly characterized by midline developmental defects that mainly affect the brain and craniofacial structure that has_material_basis_in heterozygous mutation in the STAG2 gene on chromosome Xq25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31334757/ "DO"] synonym: "Holoprosencephaly 13" EXACT [] synonym: "HPE13" EXACT [] synonym: "STAG2-RELATED CONDITION" BROAD [] synonym: "STAG2-related disorder" BROAD [] xref: MIM:301043 xref: MONDO:0026763 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4621 ! holoprosencephaly created_by: mtutaj creation_date: 2024-06-18T14:00:11Z [Term] id: DOID:0060955 name: dystonia 35, childhood-onset alt_id: DOID:9007245 def: "A dystonia characterized by the onset of a dystonic movement disorder in the first year of life that has_material_basis_in compound heterozygous mutation in the SHQ1 gene on chromosome 3p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34542157/ "DO"] synonym: "DYT35" EXACT [] xref: MIM:619921 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:54:08Z [Term] id: DOID:0060956 name: dystonia 37, early-onset with striatal lesions alt_id: DOID:9004848 def: "A dystonia characterized by the onset of progressive dystonia, dysphagia, and choreoathetosis in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutations in the NUP54 gene on chromosome 4q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36333996/ "DO"] synonym: "DYT37" EXACT [] xref: MIM:620427 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T10:55:26Z [Term] id: DOID:0060957 name: myoclonic dystonia 34 alt_id: DOID:9004834 def: "A dystonia characterized by childhood-onset dystonia primarily involving the hands and neck, with a fast tremor with superimposed myoclonus that has_material_basis_in heterozygous mutation in the KCNN2 gene on chromosome 5q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32212350/ "DO"] synonym: "DYT34" EXACT [] synonym: "KCNN2-RELATED CONDITION" BROAD [] xref: MIM:619724 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia created_by: mtutaj creation_date: 2024-04-01T10:56:56Z [Term] id: DOID:0060958 name: orofaciodigital syndrome XIV alt_id: DOID:9002841 def: "An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24997988/ "DO"] synonym: "C2CD3-RELATED CONDITION" EXACT [] synonym: "OFD14" EXACT [] synonym: "orofaciodigital syndrome 14" EXACT [] xref: GARD:13655 xref: MIM:615948 xref: MONDO:0014413 xref: ORDO:434179 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:38:04Z [Term] id: DOID:0060959 name: orofaciodigital syndrome II alt_id: DOID:9003244 def: "An orofaciodigital syndrome that is characterized by cleft lip/palate, lobulated tongue with nodules, dental anomalies including tooth agenesis, maxillary hypoplasia, conductive hearing loss, and poly-, syn-, and brachydactyly that has_material_basis_in compound heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27530628/ "DO"] synonym: "Mohr Syndrome" EXACT [] synonym: "Oral-facial-digital syndrome, type 2" EXACT [] synonym: "Oral Facial Digital Syndrome, Type II" EXACT [] synonym: "orofaciodigital syndrome 2" EXACT [] xref: GARD:3701 xref: MESH:C538585 xref: MIM:252100 xref: MONDO:0009642 xref: ORDO:2751 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:41:49Z [Term] id: DOID:0060960 name: orofaciodigital syndrome XIX alt_id: DOID:9000935 def: "An orofaciodigital syndrome that is characterized by tongue nodules; dental anomalies including congenital absence or abnormal shape of incisors; narrow, high-arched or cleft palate; retrognathia; and digital anomalies that has_material_basis_in homozygous mutation in the SCNM1 gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36084634/ "DO"] synonym: "OFD19" EXACT [] synonym: "OFDS XIX" EXACT [] synonym: "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XIX" EXACT [] xref: MIM:620107 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:45:39Z [Term] id: DOID:0060961 name: orofaciodigital syndrome XVIII alt_id: DOID:9006510 def: "An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27060890/ "DO"] synonym: "OFD18" EXACT [] synonym: "OFDS XVIII" EXACT [] synonym: "Oral-facial-digital syndrome type 18" EXACT [] synonym: "Oral-facial-digital syndrome, type XVIII" EXACT [] synonym: "Oral-facial-digital syndrome with short stature and brachymesophalangy" EXACT [] synonym: "orofaciodigital syndrome 18" EXACT [] synonym: "Orofaciodigital syndrome type 18" EXACT [] xref: MIM:617927 xref: MONDO:0054770 xref: ORDO:508501 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:50:14Z [Term] id: DOID:0060962 name: orofaciodigital syndrome XX alt_id: DOID:9009195 def: "An orofaciodigital syndrome that is characterized by bilateral oral clefting, polydactyly/syndactyly, cerebral malformations, cardiac defects, anorectal anomalies, and shortening of the long bones that has_material_basis_in homozygous or compound heterozygous mutation in the RAB34 gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37384395/ "DO"] synonym: "OFD20" EXACT [] xref: MIM:620718 xref: MONDO:0958230 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: mtutaj creation_date: 2024-06-18T14:54:26Z [Term] id: DOID:0060964 name: Loeys-Dietz syndrome 6 alt_id: DOID:9006321 def: "A Loeys-Dietz syndrome characterized by aortic/arterial aneurysm and dissection in association with connective tissue findings that has_material_basis_in heterozygous mutation in the SMAD2 gene (601366) on chromosome 18q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30157302/ "DO"] synonym: "LDS6" EXACT [] synonym: "SMAD2-RELATED CONDITION" BROAD [] xref: MIM:619656 xref: MONDO:0030500 is_a: DOID:0050466 ! Loeys-Dietz syndrome created_by: mtutaj creation_date: 2024-06-18T15:23:37Z [Term] id: DOID:0060965 name: episodic ataxia type 9 alt_id: DOID:9006425 def: "An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30928199/ "DO"] synonym: "COMPLEX NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "EA9" EXACT [] synonym: "SCN2A-related disorder" BROAD [] xref: MIM:618924 xref: MONDO:0030064 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:963 ! episodic ataxia created_by: mtutaj creation_date: 2024-06-18T15:47:37Z [Term] id: DOID:0060966 name: dystonia 22, juvenile-onset alt_id: DOID:9000446 def: "A dystonia characterized by progressive, generalized dystonia associated with cognitive decline and cerebellar atrophy on brain imaging that has_material_basis_in homozygous loss-of-function mutation in the TSPOAP1 gene (610764) on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33539324/ "DO"] synonym: "dystonia 22" BROAD [] synonym: "DYT22" BROAD [] synonym: "DYT22JO" EXACT [] xref: MIM:620453 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T11:16:44Z [Term] id: DOID:0060967 name: dystonia 22, adult-onset alt_id: DOID:9004025 def: "A dystonia characterized by focal dystonia or tremor and mild cognitive impairment that has_material_basis_in homozygous missense mutation in the TSPOAP1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33539324/ "DO"] synonym: "DYT22AO" EXACT [] xref: MIM:620456 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2024-04-01T11:18:50Z [Term] id: DOID:0060968 name: hypotrichosis 15 alt_id: DOID:9001132 def: "A hypotrichosis that is characterized by sparse or absent hair on the scalp and/or body, and eyebrows and eyelashes may be sparse or absent as well that has_material_basis_in homozygous mutation in the C3ORF52 gene on chromosome 3q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32336749/ "DO"] synonym: "HYPT15" EXACT [] xref: MIM:620177 xref: MONDO:0859341 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis created_by: mtutaj creation_date: 2024-06-21T09:48:07Z [Term] id: DOID:0060969 name: galactosemia 4 alt_id: DOID:9004085 def: "A galactosemia characterized by persistent congenital galactosemia due to deficiency of the enzyme galactose mutarotase that has_material_basis_in homozygous or compound heterozygous mutation in the GALM gene on chromosome 2p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30451973/ "DO"] synonym: "GALAC4" EXACT [] synonym: "galactosemia IV" EXACT [] synonym: "galactosemia type 4" EXACT [] synonym: "galactose mutarotase deficiency" EXACT [] synonym: "GALM deficiency" EXACT [] synonym: "GALM-RELATED CONDITION" EXACT [] xref: MIM:618881 xref: MONDO:0030105 xref: ORDO:570422 is_a: DOID:9870 ! galactosemia created_by: mtutaj creation_date: 2024-06-21T09:50:33Z [Term] id: DOID:0060970 name: Cornelia de Lange syndrome 6 alt_id: DOID:9006093 def: "A Cornelia de Lange syndrome characterized by malformations affecting multiple systems that has_material_basis_in heterozygous mutation in the BRD4 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16604071/ "DO"] synonym: "CDLS6" EXACT [] xref: MIM:620568 xref: MONDO:0957921 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome created_by: mtutaj creation_date: 2024-06-21T09:54:26Z [Term] id: DOID:0060971 name: interstitial lung disease 2 def: "An interstitial lung disease pulmonary fibrosis that is characterized by scarring of the lung and that has_material_basis_in heterozygous mutation in the SFTPA2 gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32855221/ "DO"] synonym: "ILD2" EXACT [] xref: MIM:178500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3082 ! interstitial lung disease created_by: mtutaj creation_date: 2024-06-28T14:21:30Z [Term] id: DOID:0060972 name: renal hypomagnesemia 7, with or without dilated cardiomyopathy def: "A hypomagnesemia characterized by renal salt wasting resulting in hypomagnesemia with secondary effects such as hypokalemia or hypocalcemia that has_material_basis_in heterozygous mutation in the RRAGD gene on chromosome 6q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34607910/ "DO"] synonym: "HOMG7" EXACT [] synonym: "HYPOMAGNESEMIA 7, RENAL, WITH DILATED CARDIOMYOPATHY" NARROW [] synonym: "Renal Hypomagnesemia 7 with or without Dilated Cardiomyopathy" EXACT [] synonym: "RRAGD-RELATED CONDITION" EXACT [] xref: DOID:9005972 xref: MIM:620152 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:447 ! renal tubular transport disease created_by: mtutaj creation_date: 2024-06-28T15:58:26Z [Term] id: DOID:0060973 name: WHIM syndrome 2 alt_id: DOID:9006180 def: "An immunodeficiency disease that is characterized by chronic neutropenia and myelokathexis, which is impaired neutrophil mobilization from the bone marrow and that has_material_basis_in homozygous mutation in the CXCR2 gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24777453/ "DO"] synonym: "CXCR2-RELATED CONDITION" EXACT [] synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome 2" EXACT [] synonym: "WHIMS2" EXACT [] xref: MIM:619407 xref: MONDO:0030374 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004715 ! WHIM Syndrome created_by: mtutaj creation_date: 2024-06-28T16:03:47Z [Term] id: DOID:0060974 name: autosomal recessive Robinow syndrome 2 alt_id: DOID:9007716 def: "A Robinow syndrome characterized bypostnatal mesomelic short stature and relative macrocephaly as well as dysmorphic facial features, including frontal bossing, hypertelorism, prominent eyes, wide short nose with anteverted nares, and triangular mouth that has_material_basis_in homozygous or compound heterozygous mutation in the NXN gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29276006/ "DO"] synonym: "RRS2" EXACT [] xref: MIM:618529 xref: MONDO:0032800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060254 ! Robinow syndrome created_by: mtutaj creation_date: 2024-06-28T16:13:30Z [Term] id: DOID:0060975 name: polycystic liver disease 2 alt_id: DOID:9006964 def: "A liver disease characterized by the presence of multiple liver cysts resulting from structural changes in the biliary tree during development that has_material_basis_in heterozygous mutation in the SEC63 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24886261/ "DO"] synonym: "PCLD2" EXACT [] synonym: "polycystic liver disease 2 with or without kidney cysts" EXACT [] xref: MIM:617004 xref: MONDO:0014860 is_a: DOID:0050770 ! polycystic liver disease created_by: mtutaj creation_date: 2024-06-28T16:17:28Z [Term] id: DOID:0060976 name: polycystic liver disease 3 alt_id: DOID:9009126 def: "A liver disease characterized by the development of multiple liver cysts that usually becomes apparent in adulthood that has_material_basis_in heterozygous mutation in the ALG8 gene on chromosome 11q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28375157/ "DO"] synonym: "PCLD3" EXACT [] synonym: "polycystic liver disease 3 with or without kidney cysts" EXACT [] xref: MIM:617874 xref: MONDO:0054743 is_a: DOID:0050770 ! polycystic liver disease created_by: mtutaj creation_date: 2024-06-28T16:24:56Z [Term] id: DOID:0060977 name: polycystic liver disease 4 alt_id: DOID:9009127 def: "A liver disease characterized by adult-onset of liver cysts arising from the bile duct epithelium that has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24706814/ "DO"] synonym: "PCLD4" EXACT [] synonym: "POLYCYSTIC LIVER DISEASE 4 WITH KIDNEY CYSTS" NARROW [] synonym: "polycystic liver disease 4 with or without kidney cysts" EXACT [] xref: MIM:617875 xref: MONDO:0044327 is_a: DOID:0050770 ! polycystic liver disease created_by: mtutaj creation_date: 2024-06-28T16:25:11Z [Term] id: DOID:0060978 name: Fanconi anemia complementation group W alt_id: DOID:9009064 def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the RFWD3 gene on chromosome 16q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28691929/ "DO"] synonym: "FANCW" EXACT [] xref: MIM:617784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia created_by: mtutaj creation_date: 2024-07-31T14:36:37Z [Term] id: DOID:0060979 name: Fanconi anemia complementation group S alt_id: DOID:9004232 def: "A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29133208/ "DO"] synonym: "FANCS" EXACT [] xref: MIM:617883 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia created_by: mtutaj creation_date: 2024-07-31T14:39:51Z [Term] id: DOID:0060980 name: polycystic liver disease 1 alt_id: DOID:9001771 def: "A polycystic disease characterized by the presence of multiple liver cysts of biliary epithelial origin that has_material_basis_in heterozygous mutation in the PRKCSH gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24886261/ "DO"] synonym: "Isolated autosomal dominant polycystic liver disease" EXACT [] synonym: "Isolated polycystic liver disease" EXACT [] synonym: "PCLD1" EXACT [] synonym: "polycystic liver disease 1 with or without kidney cysts" EXACT [] xref: MIM:174050 xref: MONDO:0008265 is_a: DOID:0050770 ! polycystic liver disease created_by: mtutaj creation_date: 2024-07-31T14:42:17Z [Term] id: DOID:0060981 name: mosaic variegated aneuploidy syndrome 4 alt_id: DOID:9007689 def: "A mosaic variegated aneuploidy syndrome that is characterized by mosaic aneuploidy, patients have microcephaly, mild developmental delay, and mild maculopathy and that has_material_basis_in compound heterozygous mutation in the CENATAC gene on chromosome 11q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34009673/ "DO"] synonym: "MVA4" EXACT [] xref: MIM:620153 xref: MONDO:0859329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome created_by: mtutaj creation_date: 2024-07-31T14:45:17Z [Term] id: DOID:0060982 name: mosaic variegated aneuploidy syndrome 7 with inflammation and tumor predisposition alt_id: DOID:9006369 def: "A mosaic variegated aneuploidy syndrome that is characterized by increased susceptibility to benign and malignant neoplasms beginning in early childhood that has_material_basis_in compound heterozygous mutation in the MAD1L1 gene on chromosome 7p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36322655/ "DO"] synonym: "mosaic variegated aneuploidy syndrome 7" EXACT [] synonym: "MVA7" EXACT [] xref: MIM:620189 is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome is_a: DOID:9001329 ! Tumor Predisposition Syndrome created_by: mtutaj creation_date: 2024-07-31T14:47:53Z [Term] id: DOID:0060983 name: sitosterolemia 2 alt_id: DOID:9001723 def: "An intestinal disease that is characterized by unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules, such as sitosterol that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG5 gene on chromosome 2p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11099417/ "DO"] synonym: "ABCG5-RELATED CONDITION" EXACT [] synonym: "phytosterolemia" EXACT [] synonym: "STSL2" EXACT [] xref: MIM:618666 xref: MONDO:0020748 is_a: DOID:0090019 ! sitosterolemia created_by: mtutaj creation_date: 2024-07-31T14:50:35Z [Term] id: DOID:0060984 name: digenic dyskeratosis congenita alt_id: DOID:9006803 def: "A dyskeratosis congenita characterized by combination of mucocutaneous features including abnormal skin pigmentation, nail dystrophy, thin hair, and oral leukoplakia that has_material_basis_in heterozygous mutation in the TYMS gene combined with a specific haplotype in the ENOSF1 gene, both of which reside on chromosome 18p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35931051/ "DO"] synonym: "DKCD" EXACT [] synonym: "dyskeratosis congenita, digenic" EXACT [] xref: MIM:620040 xref: MONDO:0031057 is_a: DOID:2729 ! dyskeratosis congenita created_by: mtutaj creation_date: 2024-09-30T11:20:56Z [Term] id: DOID:0060985 name: preaxial polydactyly type IV alt_id: DOID:9008310 def: "A polydactyly that has_material_basis_in heterozygous mutation in the GLI3 gene on chromosome 7p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/6641002/ "DO"] synonym: "CP1" EXACT [] synonym: "crossed polydactyly type 1" EXACT [] synonym: "crossed polydactyly type I" EXACT [] synonym: "PPD4" EXACT [] synonym: "preaxial polydactyly 4" EXACT [] synonym: "preaxial polydactyly IV" EXACT [1] synonym: "uncomplicated polysyndactyly" EXACT [] xref: MESH:C536333 xref: MIM:174700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005329 ! Preaxial Polydactyly created_by: mtutaj creation_date: 2024-09-30T11:23:03Z [Term] id: DOID:0060986 name: preaxial polydactyly II alt_id: DOID:9007798 def: "A polydactyly characterized by the presence of 3 phalanges within the thumb that has_material_basis_in heterozygous mutation in the ZRS, a regulatory element of SHH, on chromosome 7q36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8012392/ "DO"] synonym: "polydactyly of a triphalangeal thumb" EXACT [] synonym: "POLYDACTYLY OF TRIPHALANGEAL THUMB" EXACT [] synonym: "PPD2" EXACT [] synonym: "TPT" EXACT [] synonym: "TPT-PS syndrome" EXACT [] synonym: "triphalangeal thumb" BROAD [] synonym: "triphalangeal thumb with polydactyly" EXACT [] xref: GARD:5289 xref: MIM:174500 xref: ORDO:93336 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9005329 ! Preaxial Polydactyly created_by: mtutaj creation_date: 2024-09-30T11:26:55Z [Term] id: DOID:0060987 name: preaxial polydactyly I alt_id: DOID:9004978 def: "A polydactyly characterized by the duplication of one or more skeletal components of a biphalangeal thumb and/or hallux that has_material_basis_in homozygous mutation in the GLI1 gene (165220) on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15405667/ "DO"] synonym: "Fromont Anomaly" NARROW [] synonym: "PPD1" EXACT [] synonym: "preaxial polydactyly type 1" EXACT [] synonym: "THENAR HYPOPLASIA" BROAD [] synonym: "Thumb polydactyly" EXACT [] xref: GARD:4417 xref: MESH:C536332 xref: MIM:174400 xref: ORDO:93339 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005329 ! Preaxial Polydactyly created_by: mtutaj creation_date: 2024-09-30T11:29:40Z [Term] id: DOID:0060988 name: pancreatic agenesis 2 alt_id: DOID:9007770 def: "A pancreatic agenesis that has_material_basis_in homozygous or compound heterozygous mutation in a distal enhancer of the PTF1A gene on chromosome 10p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24212882/ "DO"] synonym: "PAGEN2" EXACT [] synonym: "PANCREATIC HYPOPLASIA, CONGENITAL 2" EXACT [] xref: MIM:615935 xref: MONDO:0014406 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050877 ! pancreatic agenesis created_by: mtutaj creation_date: 2024-09-30T11:31:14Z [Term] id: DOID:0060989 name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 alt_id: DOID:9009129 def: "A syndrome characterized by distinctive facial features including midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding with keletal anomalies including patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray that has_material_basis_in heterozygous mutation in the BMP2 gene on chromosome 20p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29198724/ "DO"] synonym: "SSFSC1" EXACT [] xref: MIM:617877 xref: MONDO:0100297 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004675 ! Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies created_by: mtutaj creation_date: 2024-09-30T11:34:17Z [Term] id: DOID:0060990 name: congenital disorder of deglycosylation 2 alt_id: DOID:9001812 def: "A carbohydrate metabolic disorder characterized by variable associated features such as dysmorphic facies, impaired intellectual development, and brain anomalies, including polymicrogyria, interhemispheric cysts, hypothalamic hamartoma, callosal anomalies, and hypoplasia of brainstem and cerebellar vermis that has_material_basis_in homozygous or compound heterozygous mutation in the MAN2C1 gene on chromosome 15q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35045343/ "DO"] synonym: "CDDG2" EXACT [] xref: MIM:619775 xref: MONDO:0030770 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060991 ! congenital disorder of deglycosylation is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:936 ! brain disease created_by: mtutaj creation_date: 2024-09-30T11:37:07Z [Term] id: DOID:0060991 name: congenital disorder of deglycosylation alt_id: DOID:9003697 synonym: "congenital disorders of deglycosylation" EXACT [] xref: MIM:PS615273 xref: MONDO:0031376 is_a: DOID:2978 ! carbohydrate metabolic disorder created_by: mtutaj creation_date: 2024-09-30T11:13:09Z [Term] id: DOID:0060992 name: bent bone dysplasia syndrome 1 alt_id: DOID:9001258 def: "A bone remodeling disease characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22387015/ "DO"] synonym: "BBDS1" EXACT [] synonym: "DISTINCT BENT BONE DYSPLASIA" NARROW [] synonym: "FGFR2-related bent bone dysplasia" EXACT [] synonym: "perinatal lethal bent bone dysplasia" EXACT [] xref: GARD:10965 xref: MIM:614592 xref: MONDO:0013815 xref: ORDO:313855 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006314 ! Bent Bone Dysplasia Syndrome created_by: mtutaj creation_date: 2024-09-30T12:06:08Z [Term] id: DOID:0060993 name: bent bone dysplasia syndrome 2 alt_id: DOID:9006726 def: "A bone remodeling disease characterized by defects in both the axial and appendicular skeleton, with radiographic findings of undermineralized bone and a distinct angulation of the mid femoral shaft that has_material_basis_incompound heterozygous mutation in the LAMA5 gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33242826/ "DO"] synonym: "BBDS2" EXACT [] synonym: "LAMA5-RELATED CONDITION" BROAD [] xref: MIM:620076 xref: MONDO:0859573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006314 ! Bent Bone Dysplasia Syndrome created_by: mtutaj creation_date: 2024-09-30T12:06:23Z [Term] id: DOID:0060994 name: encephalopathy due to defective mitochondrial and peroxisomal fission 2 alt_id: DOID:9002077 def: "A syndrome characterized by delayed psychomotor development, severe hypotonia with inability to walk, microcephaly, and abnormal signals in the basal ganglia that has_material_basis_in homozygous or compound heterozygous mutation in the MFF gene on chromosome 2q36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26783368/ "DO"] synonym: "EMPF2" EXACT [] synonym: "Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome" EXACT [] synonym: "MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect" EXACT [] xref: MIM:617086 xref: MONDO:0014905 xref: ORDO:485421 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009111 ! Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission created_by: mtutaj creation_date: 2024-09-30T12:09:44Z [Term] id: DOID:0060995 name: autosomal dominant isolated macrothrombocytopenia 2 alt_id: DOID:9003883 def: "A thrombocytopenia that is characterized by the finding of low platelet numbers and abnormally large platelets with irregular shapes that has_material_basis_in heterozygous mutation in the TUBA8 gene on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34704371/ "DO"] synonym: "Isolated Macrothrombocytopenia 2, Autosomal Dominant" EXACT [] synonym: "MACTHC2" EXACT [] xref: MIM:619840 xref: MONDO:0030827 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004194 ! Isolated Macrothrombocytopenia created_by: mtutaj creation_date: 2024-11-01T15:51:44Z [Term] id: DOID:0060996 name: poor metabolism of thiopurines 2 alt_id: DOID:9002041 def: "A poor metabolism of thiopurines that has_material_basis_in variation in the NUDT15 gene on chromosome 13q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26878724/ "DO"] synonym: "THPM2" EXACT [] xref: MIM:616903 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080172 ! poor metabolism of thiopurines created_by: mtutaj creation_date: 2024-11-01T16:01:57Z [Term] id: DOID:0060997 name: rhabdoid tumor predisposition syndrome 2 alt_id: DOID:9001988 def: "A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCA4 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24752781/ "DO"] synonym: "RTPS2" EXACT [] synonym: "SMARCA4-RELATED BAFOPATHY" BROAD [] synonym: "SMARCA4-RELATED CONDITION" BROAD [] xref: MESH:C567643 xref: MIM:613325 xref: MONDO:0013224 is_a: DOID:0070617 ! rhabdoid tumor predisposition syndrome created_by: mtutaj creation_date: 2024-11-01T16:04:39Z [Term] id: DOID:0060998 name: striatal degeneration 2 alt_id: DOID:9005156 def: "A multiple system atrophy characterized by hyperkinetic movements, mainly chorea, resulting from dysfunction of the basal ganglia that has_material_basis_in heterozygous mutation in the PDE10A gene on chromosome 6q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27058447/ "DO"] synonym: "ADSD2" EXACT [] synonym: "striatal degeneration, autosomal dominant 2" EXACT [] xref: MIM:616922 xref: MONDO:0014835 is_a: DOID:4752 ! multiple system atrophy is_a: DOID:9006845 ! Striatal Degeneration, Autosomal Dominant created_by: mtutaj creation_date: 2024-11-01T16:08:36Z [Term] id: DOID:0060999 name: mitochondrial trifunctional protein deficiency 2 alt_id: DOID:9002828 def: "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHB gene the beta subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12754706/ "DO"] synonym: "HADHB-related condition" BROAD [] synonym: "MITOCHONDRIAL TRIFUNCTIONAL PROTEIN DEFICIENCY 2 WITH MYOPATHY AND NEUROPATHY" NARROW [] synonym: "MTPD2" EXACT [] synonym: "trifunctional protein deficiency, type 2" EXACT [] xref: MIM:620300 xref: MONDO:00958185 is_a: DOID:0111277 ! mitochondrial trifunctional protein deficiency created_by: mtutaj creation_date: 2024-11-01T16:11:22Z [Term] id: DOID:0061001 name: glycine encephalopathy 2 alt_id: DOID:9000953 def: "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the AMT gene, which encodes a member of the glycine cleavage system (protein T), on chromosome 3p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8005589/ "DO"] synonym: "GCE2" EXACT [] xref: MIM:620398 xref: MONDO:0958192 is_a: DOID:9268 ! glycine encephalopathy created_by: mtutaj creation_date: 2024-11-01T16:29:39Z [Term] id: DOID:0061002 name: congenital amegakaryocytic thrombocytopenia 2 alt_id: DOID:9009110 def: "A thrombocytopenia characterized by thrombocytopenia with progression to pancytopenia, aplastic anemia, and bone marrow failure that has_material_basis_in homozygous mutation in the THPO gene on chromosome 3q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28559357/ "DO"] synonym: "CAMT2" EXACT [] xref: MIM:620481 xref: MONDO:0957575 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090118 ! congenital amegakaryocytic thrombocytopenia created_by: mtutaj creation_date: 2024-11-01T16:31:32Z [Term] id: DOID:0061003 name: pancreatic agenesis 1 def: "A pancreatic agenesis characterized by intrauterine growth retardation that has_material_basis_in homozygous or compound heterozygous mutation in the PDX1 gene on chromosome 13q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20009086/ "DO"] synonym: "PAGEN1" EXACT [] xref: MIM:260370 xref: MONDO:0024547 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050877 ! pancreatic agenesis created_by: mtutaj creation_date: 2024-11-01T16:33:46Z [Term] id: DOID:0061004 name: poor metabolism of thiopurines 1 alt_id: DOID:9006969 def: "A poor metabolism of thiopurines that has_material_basis_in homozygous or compound heterozygous mutation in the TPMT gene on chromosome 6p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2758725/ "DO"] synonym: "THPM1" EXACT [] xref: MIM:610460 is_a: DOID:0080172 ! poor metabolism of thiopurines created_by: mtutaj creation_date: 2024-11-01T16:35:20Z [Term] id: DOID:0070000 name: 3-methylglutaconic aciduria type 8 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the HTRA2 gene on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27208207 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27696117 "DO"] synonym: "3-methylglutaconic aciduria type VIII" EXACT [] synonym: "3-methylglutaconic aciduria type VIII, MGCA8" EXACT [] synonym: "HTRA2-RELATED CONDITION" BROAD [] synonym: "MGCA8" EXACT [] xref: MIM:617248 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0070002 name: 3-methylglutaconic aciduria type 9 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the TIMM50 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27573165 "DO"] synonym: "3-methylglutaconic aciduria type IX" EXACT [] synonym: "3-methylglutaconic aciduria type IX, MGCA9" EXACT [] synonym: "3-methylglutaconic acuduria type IX, MGCA9" EXACT [] synonym: "MGCA9" EXACT [] synonym: "TIMM50-RELATED CONDITION" EXACT [] xref: MIM:617698 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0070003 name: blastoma def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from precursor cells called blast cells. (DO)" [https://en.wikipedia.org/wiki/Blastoma "DO"] synonym: "EFO:0005785" EXACT [] xref: EFO:0005785 is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:0070004 name: myeloid neoplasm def: "A bone marrow cancer that is formed of any one of the bone marrow cells belonging to the granulocytic (neutrophil, eosinophil, basophil), monocytic/macrophage, erythroid, megakaryocytic and mast cell lineages. (DO)" [http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf "DO", https://www.ncbi.nlm.nih.gov/pubmed/19357394 "DO"] synonym: "EFO:0002427" EXACT [] synonym: "myeloid malignancy" EXACT [] synonym: "myeloid tumor" EXACT [] synonym: "myeloproliferative disorder" EXACT [] synonym: "myeloproliferative disorders" EXACT [] xref: EFO:0002427 xref: MESH:D009196 xref: MONDO:0005170 xref: NCI:C9290 is_a: DOID:4960 ! bone marrow cancer [Term] id: DOID:0070005 name: Seckel syndrome 9 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the TRAIP gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26595769 "DO"] synonym: "SCKL9" EXACT [] xref: MIM:616777 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070006 name: Seckel syndrome 6 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the CEP63 gene on chromosome 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21983783 "DO"] synonym: "SCKL6" EXACT [] xref: MIM:614728 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070007 name: Seckel syndrome 1 alt_id: MIM:210600 def: "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12640452 "DO"] synonym: "ATR-RELATED CONDITION" BROAD [] synonym: "microcephalic primordial dwarfism 1" EXACT [] synonym: "microcephalic primordial dwarfism I" EXACT [] synonym: "nanocephalic dwarfism" EXACT [] synonym: "SCKL1" EXACT [] synonym: "Seckel-type dwarfism" EXACT [] xref: MESH:C537533 is_a: DOID:0050569 ! Seckel syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:9001487 ! Facies is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0070008 name: Seckel syndrome 10 def: "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NSMCE2 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25105364 "DO"] synonym: "SCKL10" EXACT [] xref: MIM:617253 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070009 name: Seckel syndrome 8 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the DNA2 gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24389050 "DO"] synonym: "DNA2-RELATED CONDITION" BROAD [] synonym: "SCKL8" EXACT [] synonym: "Seckel syndrome type 8" EXACT [] xref: MIM:615807 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070010 name: Seckel syndrome 4 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the CENPJ gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20522431 "DO"] synonym: "CENPJ-RELATED DISORDER" BROAD [] synonym: "SCKL4" EXACT [] xref: MIM:613676 is_a: DOID:0050569 ! Seckel syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0070011 name: Seckel syndrome 7 def: "A Seckel syndrome that has_material_basis_in compound heterozygous mutation in the NIN gene on chromosome 14q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22933543 "DO"] synonym: "SCKL7" EXACT [] xref: MIM:614851 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070012 name: Seckel syndrome 5 def: "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21131973 "DO"] synonym: "CEP152-RELATED CONDITION" BROAD [] synonym: "CEP152-related disorder" BROAD [] synonym: "CEP152-related disorders" BROAD [] synonym: "SCKL5" EXACT [] xref: MIM:613823 is_a: DOID:0050569 ! Seckel syndrome [Term] id: DOID:0070013 name: Seckel syndrome 2 alt_id: MIM:606744 def: "A Seckel syndrome that has_material_basis_in homozygous mutation in the RBBP8 gene on chromosome 18q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21998596 "DO"] synonym: "Bird-headed dwarfism 2" EXACT [] synonym: "Microcephalic primordial dwarfism 2" EXACT [] synonym: "RBBP8-related disorders" RELATED [] synonym: "SCKL2" EXACT [] synonym: "Seckel-type dwarfism 2" BROAD [] xref: MESH:C537534 is_a: DOID:0050569 ! Seckel syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0070014 name: autosomal dominant dyskeratosis congenita 1 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERC gene on chromosome 3q26.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11574891 "DO"] synonym: "DKCA1" EXACT [] synonym: "Dyskeratosis Congenita, Scoggins Type" EXACT [] xref: MIM:127550 xref: MONDO:0007485 is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070015 name: autosomal recessive dyskeratosis congenita 1 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA3 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17507419 "DO"] synonym: "DKCB1" EXACT [] xref: MIM:224230 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070016 name: autosomal dominant dyskeratosis congenita 2 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TERT gene on chromosome 5p15.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16247010 "DO"] synonym: "DKCA2" EXACT [] xref: MIM:613989 is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070017 name: autosomal recessive dyskeratosis congenita 2 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the NOLA2 gene on chromosome 5q35.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18523010 "DO"] synonym: "DKCB2" EXACT [] xref: MIM:613987 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070018 name: autosomal dominant dyskeratosis congenita 3 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the TINF2 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252230 "DO"] synonym: "DKCA3" EXACT [] synonym: "TINF2-RELATED CONDITION" BROAD [] xref: MIM:613990 is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070019 name: autosomal recessive dyskeratosis congenita 3 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the WRAP53 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21205863 "DO"] synonym: "DKCB3" EXACT [] synonym: "WRAP53-RELATED CONDITION" EXACT [] xref: MIM:613988 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070020 name: autosomal dominant dyskeratosis congenita 4 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of the RTEL1 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23329068 "DO"] synonym: "DKCA4" EXACT [] is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070021 name: autosomal recessive dyskeratosis congenita 4 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the TERT gene on chromosome 5p15.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17785587 "DO"] synonym: "DKCB4" EXACT [] is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070022 name: autosomal recessive dyskeratosis congenita 5 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the RTEL1 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19461895 "DO"] synonym: "DKCB5" EXACT [] xref: MIM:615190 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070023 name: autosomal dominant dyskeratosis congenita 6 def: "A dyskeratosis congenita that has_material_basis_in an autosomal dominant mutation of ACD on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25205116 "DO"] synonym: "ACD-RELATED CONDITION" BROAD [] synonym: "DKCA6" EXACT [] synonym: "DKCB7" RELATED [] synonym: "DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 7" RELATED [] xref: MIM:616553 xref: MONDO:0014690 is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita [Term] id: DOID:0070024 name: autosomal recessive dyskeratosis congenita 6 alt_id: DOID:9007288 def: "A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of the PARN gene on chromosome 16p13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25893599 "DO"] synonym: "DKCB6" EXACT [] xref: MIM:616353 xref: MONDO:0014600 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita [Term] id: DOID:0070025 name: X-linked dyskeratosis congenita def: "A dyskeratosis congenita that has_material_basis_in an X-linked recessive mutation of the DKC1 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590285 "DO"] synonym: "DKC1-RELATED CONDITION" BROAD [] synonym: "DKCX" EXACT [] synonym: "Zinsser-Cole-Engman syndrome" EXACT [] xref: MIM:305000 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:0070026 name: Revesz syndrome alt_id: MIM:268130 def: "A dyskeratosis congenita that has_material_basis_in a mutation of the TINF2 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252230 "DO"] synonym: "DKCA5" EXACT [] synonym: "dyskeratosis congenita, autosomal dominant 5" EXACT [] synonym: "exudative retinopathy with bone marrow failure" EXACT [] synonym: "Revesz Debuse syndrome" EXACT [] synonym: "TINF2-RELATED CONDITION" BROAD [] xref: GARD:4695 xref: MESH:C538371 is_a: DOID:225 ! syndrome is_a: DOID:9000981 ! Autosomal Dominant Dyskeratosis Congenita is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:0070027 name: CST3-related cerebral amyloid angiopathy alt_id: MIM:105150 alt_id: RDO:0004152 def: "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of the CST3 gene on chromosome 20p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2900981 "DO"] synonym: "Amyloidosis VI" EXACT [] synonym: "Autosomal Dominant Cerebrovascular Amyloidosis" EXACT [] synonym: "Cerebral Amyloid Angiopathy, Familial" EXACT [] synonym: "Cerebral Amyloid Angiopathy, Genetic" EXACT [] synonym: "cerebroarterial amyloidosis, Icelandic type" EXACT [] synonym: "Dutch Type Hereditary Cerebral Amyloid Angiopathy" EXACT [] synonym: "HCHWA" EXACT [] synonym: "Hereditary Cerebral Amyloid Angiopathy" EXACT [] synonym: "Hereditary Cerebral Hemorrhage With Amyloidosis" EXACT [] synonym: "Hereditary Cerebral Hemorrhage with Amyloidosis, Icelandic Variant" EXACT [] synonym: "Icelandic Type Amyloidosis" EXACT [] synonym: "Icelandic type hereditary cerebral amyloid angiopathy" EXACT [] xref: MESH:D028243 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112313 ! brain small vessel disease is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070028 name: APP-related cerebral amyloid angiopathy alt_id: MIM:605714 def: "A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2111584 "DO"] synonym: "APP-related cerebral amyloid angiopathy, Arctic variant" EXACT [] synonym: "APP-RELATED CONDITION" BROAD [] synonym: "CEREBRAL AMYLOID ANGIOPATHY, APP-RELATED" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Dutch Variant" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Flemish Variant" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Iowa Variant" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Italian Variant" EXACT [] synonym: "Cerebral Amyloid Angiopathy, App-Related, Piedmont Variant" EXACT [] synonym: "Cerebral Hemorrhage with Amyloidosis, Hereditary, Dutch Type" EXACT [] synonym: "cerebroarterial amyloidosis, APP-related" EXACT [] synonym: "HCHWAD" EXACT [] synonym: "hereditary amyloidosis with cerebral hemorrhage, Dutch variant" EXACT [] xref: MESH:C537944 xref: NCI:C157147 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002676 ! Cerebral Hemorrhage is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070029 name: ITM2B-related cerebral amyloid angiopathy 1 alt_id: MIM:176500 def: "A cerebral amyloid angiopathy characterized by onset in the 4th to 6th decade of life, progressive mental deterioration, spasticity, muscular rigidity but no tremors, spontaneous movements or sensory changes that has_material_basis_in heterozygous mutation in the ITM2B gene on chromosome 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10391242 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7086452 "DO"] synonym: "cerebral amyloid angiopathy, British type" EXACT [] synonym: "familial British dementia" EXACT [] synonym: "FBD" EXACT [] synonym: "presenile dementia with spastic ataxia" EXACT [] xref: GARD:8344 xref: MESH:C538208 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070027 ! CST3-related cerebral amyloid angiopathy is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070030 name: ITM2B-related cerebral amyloid angiopathy 2 alt_id: MIM:117300 alt_id: RDO:0004153 def: "A cerebral amyloid angiopathy characterized by ataxia, intention tremor, psychosis and dementia that has_material_basis_in an autosomal dominant mutation of the ITM2B gene on chromosome 13q14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10781099 "DO"] synonym: "cerebellar ataxia, cataract, deafness, and dementia or psychosis" EXACT [] synonym: "familial Danish dementia" EXACT [] synonym: "FDD" EXACT [] synonym: "heredopathia ophthalmootoencephalica" EXACT [] synonym: "HOOE" EXACT [] xref: MESH:C538209 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:1307 ! dementia is_a: DOID:83 ! cataract is_a: DOID:9008681 ! Deafness is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:0070031 name: autosomal dominant intellectual developmental disorder 1 alt_id: MIM:156200 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the MBD5 gene on chromosome 2q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21981781 "DO"] synonym: "autosomal dominant mental retardation 1" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 1" EXACT [] synonym: "CHROMOSOME 2q23.1 DELETION SYNDROME" NARROW [] synonym: "MBD5 associated neurodevelopmental disorder" EXACT [] synonym: "MBD5-RELATED CONDITION" EXACT [] synonym: "MRD1" EXACT [] xref: EFO:0009072 xref: MESH:C566947 xref: NCI:C141424 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070032 name: autosomal dominant intellectual developmental disorder 2 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DOCK8 gene on chromosome 9p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18060736 "DO"] synonym: "autosomal dominant mental retardation 2" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 2" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 2" EXACT [] synonym: "MRD2" EXACT [] xref: MIM:614113 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070033 name: autosomal dominant intellectual developmental disorder 3 alt_id: MIM:612580 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CDH15 gene on chromosome 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19012874 "DO"] synonym: "autosomal dominant mental retardation 3" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 3" EXACT [] synonym: "CDH15-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 3" EXACT [] synonym: "MRD3" EXACT [] xref: MESH:C567241 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070034 name: autosomal dominant intellectual developmental disorder 4 alt_id: MIM:612581 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIRREL3 gene on chromosome 11q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19012874 "DO"] synonym: "autosomal dominant mental retardation 4" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 4" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 4" EXACT [] synonym: "MRD4" EXACT [] xref: MESH:C567240 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070035 name: autosomal dominant intellectual developmental disorder 5 alt_id: MIM:612621 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SYNGAP1 gene on chromosome 6p21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19196676 "DO"] synonym: "autosomal dominant mental retardation 5" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 5" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 5" EXACT [] synonym: "MRD5" EXACT [] synonym: "SYNGAP1-RELATED CONDITION" EXACT [] synonym: "SYNGAP1-RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY" EXACT [] synonym: "SYNGAP1-RELATED ENCEPHALOPATHY" EXACT [] xref: MESH:C567234 xref: NCI:C178414 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070036 name: autosomal dominant intellectual developmental disorder 6 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20890276 "DO"] synonym: "autosomal dominant intellectual developmental disorder 6, with or without seizures" EXACT [] synonym: "autosomal dominant mental retardation 6" EXACT [] synonym: "autosomal dominant mental retardation 6, with or without seizures" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 6" EXACT [] synonym: "GRIN2B-RELATED CONDITION" BROAD [] synonym: "GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER" BROAD [] synonym: "GRIN2B-RELATED DISORDER" BROAD [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 6" EXACT [] synonym: "MRD6" EXACT [] xref: MIM:613970 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:11832 ! visual epilepsy [Term] id: DOID:0070037 name: autosomal dominant intellectual developmental disorder 7 def: "An autosomal dominant intellectual developmental disorder that is characterized by intellectual disability including impaired speech development, autism spectrum disorder including anxious and/or stereotypic behavior problems, and microcephaly and that has_material_basis_in an autosomal dominant mutation of the DYRK1A gene on chromosome 21q22.13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK333438/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23160955 "DO"] synonym: "autosomal dominant mental retardation 7" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 7" EXACT [] synonym: "DYRK1A-RELATED DISORDER" EXACT [] synonym: "DYRK1A-RELATED INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "DYRK1A syndrome" EXACT [] synonym: "INTELLECTUAL DISABILITY SYNDROME DUE TO A DYRK1A POINT MUTATION" NARROW [] synonym: "MRD7" EXACT [] xref: MIM:614104 xref: NCI:C179708 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070038 name: autosomal dominant intellectual developmental disorder 8 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN1 gene on chromosome 9q34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21376300 "DO"] synonym: "autosomal dominant mental retardation 8" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 8" EXACT [] synonym: "GRIN1-related disorder" EXACT [] synonym: "MRD8" EXACT [] synonym: "NDHMSD" EXACT [] synonym: "neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant" EXACT [] xref: EFO:0009300 xref: MIM:614254 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070039 name: NESCAV syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KIF1A gene on chromosome 2q37.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21376300 "DO"] synonym: "autosomal dominant intellectual disability 9" EXACT [] synonym: "autosomal dominant mental retardation 9" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 9" EXACT [] synonym: "MRD9" EXACT [] synonym: "NESCAVS" EXACT [] synonym: "neurodegeneration and spasticity with or without cerebellar atrophy or cortical visual impairment" EXACT [] xref: MIM:614255 xref: NCI:C133742 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070040 name: autosomal dominant intellectual developmental disorder 10 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CACNG2 gene on chromosome 22q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21376300 "DO"] synonym: "autosomal dominant mental retardation 10" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 10" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 10" EXACT [] synonym: "MRD10" EXACT [] xref: MIM:614256 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070041 name: autosomal dominant intellectual developmental disorder 11 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EPB41L1 gene on chromosome 20q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21376300 "DO"] synonym: "autosomal dominant mental retardation 11" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 11" EXACT [] synonym: "chromosome 20q11-q12 deletion syndrome" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 11" EXACT [] synonym: "MRD11" EXACT [] xref: MIM:614257 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070042 name: Coffin-Siris syndrome 1 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1B gene on chromosome 6q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22405089 "DO"] synonym: "ARID1B-RELATED BAFOPATHY" EXACT [] synonym: "ARID1B-RELATED CONDITION" EXACT [] synonym: "ARID1B-RELATED DISORDER" EXACT [] synonym: "autosomal dominant mental retardation 12" EXACT [] synonym: "CSS1" EXACT [] synonym: "fifth digit syndrome" BROAD [] synonym: "HHID" EXACT [] synonym: "hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features" EXACT [] synonym: "MRD12" EXACT [] xref: MIM:135900 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070043 name: autosomal dominant intellectual developmental disorder 13 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DYNC1H1 gene on chromosome 14q32.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21076407 "DO"] synonym: "autosomal dominant mental retardation 13" EXACT [] synonym: "autosomal dominant mental retardation 13, with neuronal migration defects" EXACT [] synonym: "autosomal dominant mental retardation with neuronal migration defects" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 13" EXACT [] synonym: "CDCBM13" EXACT [] synonym: "complex cortical dysplasia with other brain malformations 13" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 13" EXACT [] synonym: "MRD13" EXACT [] xref: MIM:614563 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0070044 name: Coffin-Siris syndrome 2 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the ARID1A gene on chromosome 1p36.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22426308 "DO"] synonym: "ARID1A-RELATED BAFOPATHY" EXACT [] synonym: "ARID1A-RELATED CONDITION" EXACT [] synonym: "autosomal dominant mental retardation 14" EXACT [] synonym: "CSS2" EXACT [] synonym: "MRD14" EXACT [] xref: MIM:614607 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070045 name: Coffin-Siris syndrome 3 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCB1 gene on chromosome 22q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22426308 "DO"] synonym: "autosomal dominant mental retardation 15" EXACT [] synonym: "CSS3" EXACT [] synonym: "MRD15" EXACT [] xref: MIM:614608 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070046 name: Coffin-Siris syndrome 4 def: "A Coffin-Siris syndrome that has_material_basis_in an autosomal dominant mutation of the SMARCA4 gene on chromosome 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22426308 "DO"] synonym: "autosomal dominant mental retardation 16" EXACT [] synonym: "CSS4" EXACT [] synonym: "MRD16" EXACT [] synonym: "SMARCA4-RELATED BAFOPATHY" BROAD [] synonym: "SMARCA4-RELATED CONDITION" BROAD [] xref: MIM:614609 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070047 name: Schuurs-Hoeijmakers syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PACS1 gene on chromosome 11q13.1-q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26842493 "DO"] synonym: "autosomal dominant intellectual developmental disorder 17" EXACT [] synonym: "autosomal dominant mental retardation 17" EXACT [] synonym: "MRD17" EXACT [] synonym: "SHMS" EXACT [] xref: MIM:615009 xref: NCI:C150555 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0070048 name: GAND syndrome def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy, with motor delay and moderate to severely impaired intellectual development and that has_material_basis_in an autosomal dominant mutation of the GATAD2B gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31949314/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO"] synonym: "autosomal dominant intellectual developmental disorder 18" EXACT [] synonym: "autosomal dominant mental retardation 18" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 18" EXACT [] synonym: "GAND" EXACT [] synonym: "GATAD2B-related disorder" EXACT [] synonym: "MRD18" EXACT [] xref: MIM:615074 xref: NCI:C202606 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070049 name: autosomal dominant intellectual developmental disorder 19 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTNNB1 gene on chromosome 3p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO"] synonym: "autosomal dominant mental retardation 19" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 19" EXACT [] synonym: "CTNNB1-RELATED SYNDROMIC INTELLECTUAL DISABILITY" EXACT [] synonym: "MRD19" EXACT [] synonym: "NEDSDV" EXACT [] synonym: "neurodevelopmental disorder with spastic diplegia and visual defects" EXACT [] xref: MIM:615075 xref: MONDO:0014035 xref: NCI:C176897 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070050 name: neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities and that has_material_basis_in an autosomal dominant mutation of the MEF2C gene on chromosome 5q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20513142 "DO"] synonym: "autosomal dominant mental retardation 20" EXACT [] synonym: "CHROMOSOME 5q14.3 DELETION SYNDROME, PROXIMAL" NARROW [] synonym: "INTELLECTUAL DISABILITY, STEREOTYPIC MOVEMENTS, EPILEPSY, AND/OR CEREBRAL MALFORMATIONS" EXACT [] synonym: "MEF2C-RELATED DISORDER" EXACT [] synonym: "Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations" EXACT [] synonym: "MRD20" EXACT [] xref: MIM:613443 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:1826 ! epilepsy is_a: DOID:2303 ! stereotypic movement disorder is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:92 ! speech disorder [Term] id: DOID:0070051 name: autosomal dominant intellectual developmental disorder 21 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CTCF gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23746550 "DO"] synonym: "autosomal dominant mental retardation 21" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 21" EXACT [] synonym: "CTCF-RELATED CONDITION" EXACT [] synonym: "CTCF-RELATED DISORDER" EXACT [] synonym: "INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME" EXACT [] synonym: "MRD21" EXACT [] xref: MIM:615502 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070052 name: autosomal dominant intellectual developmental disorder 22 alt_id: MIM:612337 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZBTB18 gene on chromosome 1q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24193349 "DO"] synonym: "autosomal dominant mental retardation 22" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 22" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 22" EXACT [] synonym: "MRD22" EXACT [] synonym: "ZBTB18-RELATED CONDITION" EXACT [] synonym: "ZBTB18-RELATED DISORDER" EXACT [] xref: MESH:C567346 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0070053 name: autosomal dominant intellectual developmental disorder 23 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETD5 gene on chromosome 3p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24680889 "DO"] synonym: "autosomal dominant mental retardation 23" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 23" EXACT [] synonym: "CORNELIA DE LANGE-LIKE SYNDROME" EXACT [] synonym: "MRD23" EXACT [] synonym: "SETD5-RELATED CONDITION" EXACT [] synonym: "SETD5-RELATED DISORDER" EXACT [] xref: MIM:615761 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070054 name: Vulto-van Silfout-de Vries syndrome def: "An autosomal dominant intellectual developmental disorder characterized by delayed psychomotor development, poor expressive speech, and behavioral abnormalities that has_material_basis_in an autosomal dominant mutation of the DEAF1 gene on chromosome 11p15.5. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30923367/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21076407 "DO"] synonym: "autosomal dominant mental retardation 24" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 24" EXACT [] synonym: "DEAF1-RELATED CONDITION" BROAD [] synonym: "DEAF1-RELATED DISORDER" BROAD [] synonym: "IDDISBAS" EXACT [] synonym: "intellectual developmental disorder with impaired expressive speech and behavioral abnormalities, with or without seizures" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 24" EXACT [] synonym: "MRD24" EXACT [] synonym: "VSVS" EXACT [] xref: MIM:615828 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070055 name: Xia-Gibbs syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AHDC1 gene on chromosome 1p36.1-p35.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24791903 "DO"] synonym: "AHDC1-RELATED CONDITION" EXACT [] synonym: "AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome" EXACT [] synonym: "autosomal dominant mental retardation 25" EXACT [] synonym: "MRD25" EXACT [] synonym: "XIGIS" EXACT [] xref: EFO:0009015 xref: GARD:13409 xref: MIM:615829 xref: NCI:C192092 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome [Term] id: DOID:0070056 name: autosomal dominant intellectual developmental disorder 26 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the AUTS2 gene on chromosome 7q11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23332918 "DO"] synonym: "AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY" NARROW [] synonym: "autosomal dominant mental retardation 26" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 26" EXACT [] synonym: "AUTS2-RELATED CONDITION" BROAD [] synonym: "MRD26" EXACT [] xref: MIM:615834 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070057 name: Coffin-Siris syndrome 9 def: "An Coffin-Siris syndrome characterized by mild intellectual disability, dysmorphic facial features, hypertrichosis, microcephaly, growth deficiency, and hypoplastic fifth toenails that has_material_basis_in an autosomal dominant mutation of the SOX11 gene on chromosome 2p25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24886874 "DO"] synonym: "autosomal dominant mental retardation 27" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 27" EXACT [] synonym: "CSS9" EXACT [] synonym: "IDDMOH" EXACT [] synonym: "intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 27" EXACT [] synonym: "MRD27" EXACT [] xref: MIM:615866 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0070058 name: Helsmoortel-Van Der Aa syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ADNP gene on chromosome 20q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24531329 "DO"] synonym: "ADNP-RELATED CONDITION" EXACT [] synonym: "ADNP-related syndromic intellectual disability-autism spectrum disorder" EXACT [] synonym: "ADNP syndrome" EXACT [] synonym: "autosomal dominant mental retardation 28" EXACT [] synonym: "HVDAS" EXACT [] synonym: "MRD28" EXACT [] xref: GARD:12931 xref: MIM:615873 xref: NCI:C160662 xref: ORDO:404448 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070059 name: autosomal dominant intellectual developmental disorder 29 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the SETBP1 gene on chromosome 18q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25217958 "DO"] synonym: "autosomal dominant mental retardation 29" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 29" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 29" EXACT [] synonym: "MRD29" EXACT [] synonym: "SETBP1-RELATED CONDITION" BROAD [] synonym: "SETBP1-RELATED DISORDER" BROAD [] xref: MIM:616078 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070060 name: autosomal dominant intellectual developmental disorder 30 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the ZMYND11 gene on chromosome 10p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25217958 "DO"] synonym: "autosomal dominant intellectual developmental disorder-30 with speech delay and behavioral abnormalities" EXACT [] synonym: "autosomal dominant intellectual disability 30" EXACT [] synonym: "autosomal dominant mental retardation 30" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 30" EXACT [] synonym: "MRD30" EXACT [] xref: GARD:13136 xref: MIM:616083 xref: MONDO:0014486 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070061 name: autosomal dominant intellectual developmental disorder 31 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PURA gene on chromosome 5q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25439098 "DO"] synonym: "autosomal dominant mental retardation 31" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 31" EXACT [] synonym: "GLOBAL DEVELOPMENTAL DELAY-VISUAL ANOMALIES-PROGRESSIVE CEREBELLAR ATROPHY-TRUNCAL HYPOTONIA SYNDROME" EXACT [] synonym: "MRD31" EXACT [] synonym: "NEDRIHF" EXACT [] synonym: "neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties" EXACT [] synonym: "PURA-RELATED SEVERE NEONATAL HYPOTONIA-SEIZURES-ENCEPHALOPATHY SYNDROME DUE TO A POINT MUTATION" EXACT [] synonym: "PURA SYNDROME" EXACT [] xref: MIM:616158 xref: MONDO:0014512 xref: ORDO:438216 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070062 name: Arboleda-Tham syndrome alt_id: DOID:9008160 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the KAT6A gene on chromosome 8p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25728775 "DO"] synonym: "ARTHS" EXACT [] synonym: "autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome" EXACT [] synonym: "autosomal dominant mental retardation 32" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 32" EXACT [] synonym: "KAT6A-RELATED CONDITION" EXACT [] synonym: "KAT6A-RELATED NEURODEVELOPMENTAL DISORDER WITH MULTIPLE ANOMALIES" EXACT [] synonym: "KAT6A syndrome" EXACT [] synonym: "MRD32" EXACT [] xref: MIM:616268 xref: ORDO:457193 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0070063 name: autosomal dominant intellectual developmental disorder 33 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the DPP6 gene on chromosome 7q36.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23832105 "DO"] synonym: "autosomal dominant intellectual disability 33" EXACT [] synonym: "autosomal dominant mental retardation 33" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 33" EXACT [] synonym: "MRD33" EXACT [] xref: MIM:616311 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070064 name: autosomal dominant intellectual developmental disorder 34 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the CERT1 gene on chromosome 5q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"] synonym: "autosomal dominant mental retardation 34" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 34" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 34" EXACT [] synonym: "MRD34" EXACT [] xref: MIM:616351 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070065 name: autosomal dominant intellectual developmental disorder 35 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R5D gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"] synonym: "autosomal dominant mental retardation 35" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 35" EXACT [] synonym: "HJS1" EXACT [] synonym: "Hogue-Janssens syndrome 1" EXACT [] synonym: "INTELLECTUAL DISABILITY-MACROCEPHALY-HYPOTONIA-BEHAVIORAL ABNORMALITIES SYNDROME" EXACT [] synonym: "MRD35" EXACT [] synonym: "PPP2R5D-RELATED DISORDER" EXACT [] xref: MIM:616355 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070066 name: autosomal dominant intellectual developmental disorder 36 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the PPP2R1A gene on chromosome 19q13.41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"] synonym: "autosomal dominant mental retardation 36" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 36" EXACT [] synonym: "Houge-Janssen syndrome 2" EXACT [] synonym: "MICROCEPHALY-CORPUS CALLOSUM HYPOPLASIA-INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME" EXACT [] synonym: "MRD36" EXACT [] synonym: "PPP2R1A-RELATED CONDITION" EXACT [] synonym: "PPP2R1A-RELATED DISORDER" EXACT [] synonym: "PPP2R1A-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:616362 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070067 name: White-Sutton syndrome def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the POGZ gene on chromosome 1q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"] synonym: "autosomal dominant mental retardation 37" EXACT [] synonym: "INTELLECTUAL DISABILITY-MICROCEPHALY-STRABISMUS-BEHAVIORAL ABNORMALITIES SYNDROME" EXACT [] synonym: "MRD37" EXACT [] synonym: "POGZ-RELATED CONDITION" EXACT [] synonym: "WHSUS" EXACT [] xref: EFO:0009079 xref: MIM:616364 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0070068 name: autosomal dominant intellectual developmental disorder 38 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the EEF1A2 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24697219 "DO"] synonym: "autosomal dominant mental retardation 38" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 38" EXACT [] synonym: "EEF1A2-RELATED DEVELOPMENTAL AND DEGENERATIVE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY" BROAD [] synonym: "MRD38" EXACT [] synonym: "PRELDS" EXACT [] synonym: "psychomotor retardation, epilepsy, and language disability syndrome" EXACT [] xref: MIM:616393 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070069 name: autosomal dominant intellectual developmental disorder 39 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant heterozygous mutation in the MYT1L gene on chromosome 2p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO"] synonym: "autosomal dominant mental retardation 39" EXACT [] synonym: "autosomal dominant mental retardation 39, and obesity" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 39" EXACT [] synonym: "CHROMOSOME 2p25.3 DELETION SYNDROME" NARROW [] synonym: "CHROMOSOME 2p25.3 DUPLICATION SYNDROME" NARROW [] synonym: "MRD39" EXACT [] xref: MIM:616521 xref: NCI:C156309 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070070 name: autosomal dominant intellectual developmental disorder 40 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant de novo heterozygous mutation in the CHAMP1 gene on chromosome 13q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25533962 "DO"] synonym: "autosomal dominant mental retardation 40" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 40" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 40" EXACT [] synonym: "MRD40" EXACT [] synonym: "NEDHILD" EXACT [] synonym: "neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features" EXACT [] xref: MIM:616579 xref: NCI:C163754 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070071 name: autosomal dominant intellectual developmental disorder 41 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TBL1XR1 gene on chromosome 3q26.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25102098 "DO"] synonym: "autosomal dominant mental retardation 41" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 41" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 41" EXACT [] synonym: "MRD41" EXACT [] synonym: "TBL1XR1-RELATED CONDITION" BROAD [] synonym: "TBL1XR1-RELATED DISORDER" BROAD [] xref: MIM:616944 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070072 name: autosomal dominant intellectual developmental disorder 42 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GNB1 gene on chromosome 1p36.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27108799 "DO"] synonym: "autosomal dominant mental retardation 42" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 42" EXACT [] synonym: "GLOBAL DEVELOPMENTAL DELAY-NEURO-OPHTHALMOLOGICAL ABNORMALITIES-SEIZURES-INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "MRD42" EXACT [] xref: MIM:616973 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070073 name: autosomal dominant intellectual developmental disorder 43 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27003583 "DO"] synonym: "autosomal dominant mental retardation 43" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 43" EXACT [] synonym: "HIVEP2-RELATED CONDITION" EXACT [] synonym: "HIVEP2-related disorder" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL DOMINANT 43" EXACT [] synonym: "MRD43" EXACT [] xref: MIM:616977 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070074 name: autosomal dominant intellectual developmental disorder 44 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the TRIO gene on chromosome 5p15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26721934 "DO"] synonym: "autosomal dominant intellectual developmental disorder 44 with microcephaly" EXACT [] synonym: "autosomal dominant mental retardation 44" EXACT [] synonym: "autosomal dominant non-syndromic intellectual disability 44" EXACT [] synonym: "Mercer-Ba syndrome" EXACT [] synonym: "MRD44" EXACT [] synonym: "TRIO-RELATED CONDITION" BROAD [] xref: MIM:617061 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0070077 name: schizophrenia 1 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD1 gene on chromosome 5q23-q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14699422 "DO"] synonym: "schizophrenia susceptibility locus, chromosome 5-related" EXACT [] synonym: "SCZD1" EXACT [] xref: MIM:181510 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070078 name: schizophrenia 2 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD2 gene on chromosome 11q14-q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7490076 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 11q-RELATED" EXACT [] synonym: "SCZD2" EXACT [] xref: MIM:603342 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070079 name: schizophrenia 3 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD3 gene on chromosome 6p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26814963 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6-RELATED" EXACT [] synonym: "SCZD3" EXACT [] xref: MIM:600511 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070080 name: schizophrenia 4 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the PRODH gene on chromosome 22q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12217952 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q11-RELATED" EXACT [] synonym: "SCZD4" EXACT [] xref: MIM:600850 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070081 name: schizophrenia 5 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 6q13-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15329799 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 6q-RELATED" EXACT [] synonym: "SCZD5" EXACT [] xref: MIM:603175 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070082 name: schizophrenia 6 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD6 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731535 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 8p-RELATED" EXACT [] synonym: "SCZD6" EXACT [] xref: MIM:603013 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070083 name: schizophrenia 7 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD7 gene on chromosome 13q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731535 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED" EXACT [] synonym: "SCZD7" EXACT [] xref: MIM:603176 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070084 name: schizophrenia 8 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD8 gene on chromosome 18p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9246509 "DO"] synonym: "SCZD8" EXACT [] xref: MIM:603206 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070085 name: schizophrenia 9 def: "A schizophrenia that has_material_basis_in a mutation of the DISC1 gene on chromosome 1q42.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15197400 "DO"] synonym: "schizophrenia 9 with or without an affective disorder" EXACT [] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1q42-RELATED" EXACT [] synonym: "SCZD9" EXACT [] xref: MIM:604906 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070086 name: schizophrenia 10 def: "A schizophrenia that has_material_basis_in an autosomal dominant mutation of the SCZD10 gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11001582 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 15q15-RELATED" EXACT [] synonym: "SCZD10" EXACT [] xref: MIM:605419 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia is_a: DOID:9004807 ! Catatonic Schizophrenia [Term] id: DOID:0070087 name: schizophrenia 11 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 10q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12929083 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 10q-RELATED" RELATED [] synonym: "SCZD11" EXACT [] xref: MIM:608078 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070088 name: schizophrenia 12 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 1p36.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14750073 "DO"] synonym: "SCZD12" EXACT [] xref: MIM:608543 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070089 name: schizophrenia 13 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 15q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9012828 "DO"] synonym: "schizophrenia susceptibility locus, chromosome 15q13-q14-related" RELATED [] synonym: "SCZD13" EXACT [] xref: MIM:613025 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070090 name: schizophrenia 14 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 2q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18677311 "DO"] synonym: "schizophrenia susceptibility locus, chromosome 2q32-related" EXACT [] synonym: "SCZD14" EXACT [] xref: MIM:612361 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070091 name: schizophrenia 15 def: "A schizophrenia that has_material_basis_in a mutation of the SHANK3 gene on chromosome 22q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20385823 "DO"] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 22q13-RELATED" RELATED [] synonym: "SCZD15" EXACT [] synonym: "SHANK3-related disorder" BROAD [] xref: MIM:613950 xref: MONDO:0013498 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070092 name: schizophrenia 16 def: "A schizophrenia that has_material_basis_in a mutation on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21346763 "DO"] synonym: "SCZD16" EXACT [] xref: MIM:613959 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070093 name: schizophrenia 18 def: "A schizophrenia that has_material_basis_in a mutation of the SLC1A1 gene on chromosome 9p24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23341099 "DO"] synonym: "chromosome 7q36.3 duplication syndrome, 362-Kb" RELATED [] synonym: "schizophrenia susceptibility 18" EXACT [] synonym: "SCZD18" EXACT [] xref: MIM:615232 is_a: DOID:0050177 ! monogenic disease is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0070094 name: oculocutaneous albinism type IA alt_id: MIM:203100 def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of TYR on chromosome 11q14.3 with no residual protein activity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8477259 "DO"] synonym: "albinism 1" EXACT [] synonym: "albinism I" EXACT [] synonym: "ATN" EXACT [] synonym: "OCA1" EXACT [] synonym: "OCA1A" EXACT [] synonym: "Oculocutaneous Albinism Type 1" EXACT [] synonym: "oculocutaneous albinism type 1A" EXACT [] synonym: "oculocutaneous albinism, type I" EXACT [] synonym: "oculocutaneous albinism, tyrosinase negative" EXACT [] xref: MESH:C537728 xref: NCI:C168731 is_a: DOID:9005389 ! Oculocutaneous Albinism Type I, Temperature-Sensitive [Term] id: DOID:0070095 name: oculocutaneous albinism type IB alt_id: MIM:606952 def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive hypomorphic mutation of TYR on chromosome 11q14.3 with retention of some residual protein activity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18925668 "DO"] synonym: "albinism, yellow mutant type" EXACT [] synonym: "OCA1B" EXACT [] synonym: "OCA1-TS" NARROW [] synonym: "oculocutaneous albinism type 1B" EXACT [] synonym: "oculocutaneous albinism type I, temperature-sensitive" NARROW [] synonym: "yellow albinism" EXACT [] xref: MESH:C537729 is_a: DOID:0080578 ! digenic disease is_a: DOID:9005389 ! Oculocutaneous Albinism Type I, Temperature-Sensitive [Term] id: DOID:0070096 name: oculocutaneous albinism type II alt_id: MIM:203200 alt_id: OMIA:002130 def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA2 gene on chromosome 15q12-q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18680187 "DO"] synonym: "albinism 2" EXACT [] synonym: "ALBINISM, BROWN OCULOCUTANEOUS" RELATED [] synonym: "albinism II" EXACT [] synonym: "ALBINISM, OCULOCUTANEOUS, TYPE II, MODIFIER OF" RELATED [] synonym: "Albinoidism" EXACT [] synonym: "BOCA" RELATED [] synonym: "BROWN OCULOCUTANEOUS ALBINISM" RELATED [] synonym: "OCA2" EXACT [] synonym: "OCA2-RELATED CONDITION" EXACT [] synonym: "oculocutaneous albinism type 2" EXACT [] synonym: "oculocutaneous albinism tyrosinase positive" EXACT [] xref: GARD:4038 xref: MESH:C537730 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070097 name: oculocutaneous albinism type III alt_id: MIM:203290 def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the TYRP1 gene on chromosome 9p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9345097 "DO"] synonym: "albinism 3" EXACT [] synonym: "albinism III" EXACT [] synonym: "OCA3" EXACT [] synonym: "Oculocutaneous Albinism Type 3" EXACT [] synonym: "ROCA" EXACT [] synonym: "Rufous OCA" EXACT [] synonym: "rufous oculocutaneous albinism" EXACT [] synonym: "TYRP1-RELATED CONDITION" EXACT [] synonym: "xanthism" EXACT [] xref: GARD:4039 xref: MESH:C537189 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070098 name: oculocutaneous albinism type IV alt_id: MIM:606574 alt_id: OMIA:001821 def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the SLC45A2 gene on chromosome 5p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14722913 "DO"] synonym: "OCA4" EXACT [] synonym: "oculocutaneous albinism type 4" EXACT [] synonym: "SLC45A2-RELATED CONDITION" EXACT [] xref: MESH:C564696 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070099 name: oculocutaneous albinism type V def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of the OCA5 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23050561 "DO"] synonym: "OCA5" EXACT [] synonym: "oculocutaneous albinism type 5" EXACT [] xref: MIM:615312 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070100 name: oculocutaneous albinism type VII def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive mutation of C10orf11 on chromosome 10q22.2-q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23395477 "DO"] synonym: "OCA7" EXACT [] synonym: "oculocutaneous albinism type 7" EXACT [] xref: MIM:615179 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0070111 name: Niemann-Pick disease type A alt_id: MIM:257200 def: "A Niemann-Pick disease characterized by onset in infancy and involvement of neurological tissues that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13696518 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19405096 "DO"] synonym: "acid sphingomyelinase deficiency, neurovisceral type" EXACT [] synonym: "classical Niemann Pick disease" EXACT [] synonym: "neuronal cholesterol lipidoses" EXACT [] synonym: "neuronal cholesterol lipidosis" EXACT [] synonym: "Niemann Pick's disease type A" EXACT [] synonym: "Niemann Pick disease, acute neuronopathic form" EXACT [] synonym: "Niemann Pick disease, acute neurovisceral form" EXACT [] synonym: "Niemann Pick disease, neuronopathic type" EXACT [] synonym: "SMPD1-RELATED CONDITION" BROAD [] synonym: "sphingomyelin/cholesterol lipidosis" EXACT [] synonym: "sphingomyelin cholesterol lipidoses" EXACT [] synonym: "sphingomyelin lipidoses" EXACT [] synonym: "sphingomyelin lipidosis" EXACT [] synonym: "supraoptic vertical ophthalmoplegia" EXACT [] synonym: "supraoptic vertical ophthalmoplegias" EXACT [] xref: GARD:7206 xref: MESH:D052536 xref: MONDO:0009756 xref: NCI:C126561 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070112 name: Niemann-Pick disease type B alt_id: MESH:C564366 alt_id: MIM:607616 def: "A Niemann-Pick disease characterized by visceral involvement only and survival into adulthood that has_material_basis_in an autosomal recessive mutation of the SMPD1 gene on chromosome 11p15.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12369017 "DO", https://www.ncbi.nlm.nih.gov/pubmed/13696518 "DO"] synonym: "acid sphingomyelinase deficiency, visceral type" EXACT [] synonym: "Niemann Pick's disease type B" EXACT [] synonym: "Niemann Pick's disease type E" NARROW [] synonym: "Niemann Pick disease, adult non neuronopathic" EXACT [] synonym: "NIEMANN-PICK DISEASE, INTERMEDIATE, WITH VISCERAL INVOLVEMENT AND RAPID PROGRESSION" NARROW [] synonym: "Niemann Pick Disease, Non Neuronopathic Type" EXACT [] synonym: "Niemann-Pick disease, type E" NARROW [] synonym: "Niemann-Pick disease, type F" NARROW [] synonym: "Niemann Pick disease, visceral" EXACT [] synonym: "SMPD1-RELATED CONDITION" BROAD [] synonym: "sphingomyelin/cholesterol lipidosis" EXACT [] xref: GARD:10729 xref: MESH:D052537 xref: NCI:C126866 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070113 name: Niemann-Pick disease type C1 alt_id: MIM:257220 def: "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC1 gene on chromosome 18q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11182931 "DO"] synonym: "Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia" EXACT [] synonym: "NEUROVISCERAL STORAGE DISEASE WITH VERTICAL SUPRANUCLEAR OPHTHALMOPLEGIA NIEMANN-PICK DISEASE, TYPE D" NARROW [] synonym: "Niemann-Pick's disease type C" BROAD [] synonym: "Niemann Pick Disease, Chronic Neuronopathic Form" EXACT [] synonym: "Niemann Pick disease, Subacute Juvenile Form" EXACT [] synonym: "Niemann-Pick disease, type C" BROAD [] synonym: "Niemann-Pick disease type C1, adult form" EXACT [] synonym: "Niemann-Pick disease type C1, juvenile form" EXACT [] synonym: "Niemann-Pick disease with cholesterol esterification block" EXACT [] synonym: "Niemann-Pick disease without sphingomyelinase deficiency" EXACT [] synonym: "NPC" BROAD [] synonym: "NPC1" EXACT [] synonym: "NPC1-RELATED CONDITION" BROAD [] xref: GARD:7207 xref: MESH:D052556 xref: NCI:C126864 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070114 name: Niemann-Pick disease type C2 def: "A Niemann-Pick disease that has_material_basis_in an autosomal recessive mutation of the NPC2 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17470133 "DO"] synonym: "Niemann-Pick disease C2" EXACT [] synonym: "NPC2" EXACT [] synonym: "NPC2-RELATED CONDITION" EXACT [] xref: GARD:3992 xref: MESH:C536119 xref: MIM:607625 xref: MONDO:0011873 xref: NCI:C126865 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:0070115 name: Meckel syndrome 1 alt_id: MIM:249000 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the MKS1 gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16415886 "DO"] synonym: "dysencephalia splachnocystica" EXACT [] synonym: "dysencephalia splanchnocystica" EXACT [] synonym: "Gruber syndrome" EXACT [] synonym: "Meckel-Gruber syndrome, type 1" EXACT [] synonym: "Meckel syndrome type 1" EXACT [] synonym: "Meckel syndrome type1" EXACT [] synonym: "MES" EXACT [] synonym: "MKS" EXACT [] synonym: "MKS1" EXACT [] xref: MESH:C536133 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:0070116 name: Meckel syndrome 2 alt_id: MIM:603194 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM216 gene on chromosome 11q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20512146 "DO"] synonym: "Meckel-Gruber syndrome, type 2" EXACT [] synonym: "Meckel syndrome type 2" EXACT [] synonym: "MKS2" EXACT [] xref: ICD10CM:Q61.9 xref: MESH:C536131 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:0070117 name: Meckel syndrome 3 alt_id: MIM:607361 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TMEM67 gene on chromosome 8q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16415887 "DO"] synonym: "Meckel-Gruber Syndrome, Type 3" EXACT [] synonym: "Meckel syndrome type 3" EXACT [] synonym: "MKS3" EXACT [] xref: MESH:C536132 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:0070118 name: Meckel syndrome 4 alt_id: MIM:611134 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CEP290 gene on chromosome 12q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564974 "DO"] synonym: "CEP290-related disorder" BROAD [] synonym: "Meckel-Gruber Syndrome, Type 4" EXACT [] synonym: "MECKEL-LIKE CEREBRORENODIGITAL SYNDROME" NARROW [] synonym: "Meckel syndrome type 4" EXACT [] synonym: "MKS4" EXACT [] xref: MESH:C567003 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:1148 ! polydactyly is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0070119 name: Meckel syndrome 5 alt_id: MIM:611561 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the RPGRIP1L gene on chromosome 16q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17558409 "DO"] synonym: "Meckel-Gruber syndrome, type 5" EXACT [] synonym: "Meckel syndrome type 5" EXACT [] synonym: "MKS5" EXACT [] xref: MESH:C566915 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0070120 name: Meckel syndrome 6 alt_id: MIM:612284 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the CC2D2A gene on chromosome 4p15.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18513680 "DO"] synonym: "CC2D2A-RELATED DISORDER" BROAD [] synonym: "Meckel-Gruber syndrome, type 6" EXACT [] synonym: "Meckel syndrome, type 6" EXACT [] synonym: "MKS6" EXACT [] xref: MESH:C567365 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0070121 name: Meckel syndrome 7 alt_id: MIM:267010 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the NPHP3 gene on chromosome 3q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18371931 "DO"] synonym: "Goldston syndrome" EXACT [] synonym: "Meckel-Gruber syndrome, type 7" EXACT [] synonym: "Meckel like syndrome" EXACT [] synonym: "Meckel syndrome, type 7" EXACT [] synonym: "MKS7" EXACT [] synonym: "renal hepatic pancreatic dysplasia, Dandy Walker cyst" EXACT [] synonym: "renal-hepatic-pancreatic dysplasia with Dandy-Walker cyst" EXACT [] xref: MESH:C537756 xref: ORDO:3032 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0060259 ! renal-hepatic-pancreatic dysplasia is_a: DOID:9005686 ! Dandy Walker Cyst is_a: DOID:9006554 ! Pancreatic Cyst [Term] id: DOID:0070122 name: Meckel syndrome 8 def: "A Meckel syndrome that has_material_basis_in an autosomal recessive mutation of the TCTN2 gene on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21462283 "DO"] synonym: "Meckel-Gruber syndrome, type 8" EXACT [] synonym: "Meckel syndrome type 8" EXACT [] synonym: "MKS8" EXACT [] synonym: "TCTN2-related disorder" BROAD [] synonym: "TCTN2-related disorders" BROAD [] xref: MIM:613885 xref: MONDO:0013482 xref: ORDO:90674 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:0070123 name: congenital nongoitrous hypothyroidism 4 def: "A congenital hypothyroidism characterized by a permanent thyroid deficiency present at birth and resulting from deficiency in TSH synthesis that has_material_basis_in homozygous mutation in the TSHB gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2792087 "DO"] synonym: "CHNG4" EXACT [] synonym: "deficiency of thyroid-stimulating hormone" EXACT [] synonym: "isolated thyrotropin deficiency" EXACT [] synonym: "pituitary cretinism" EXACT [] synonym: "pituitary cretinism thyrotropin, biologically inactive" NARROW [] xref: ICD10CM:E03.1 xref: MIM:275100 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070124 name: congenital nongoitrous hypothyroidism 2 alt_id: MIM:218700 def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the PAX8 gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590296 "DO"] synonym: "Athyreotic Hypothyroidism" EXACT [] synonym: "CHNG2" EXACT [] synonym: "congenital hypothyroidism due to thyroid dysgenesis" EXACT [] synonym: "congenital hypothyroidism due to thyroid dysgenesis or hypoplasia" EXACT [] synonym: "ectopic thyroid" RELATED [] xref: MESH:C566852 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8433 ! thyroid malformation is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070125 name: congenital nongoitrous hypothyroidism 5 alt_id: MIM:225250 def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16418214 "DO"] synonym: "CHNG5" EXACT [] xref: MESH:C567123 xref: ORDO:90673 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070126 name: congenital nongoitrous hypothyroidism 1 def: "A congenital hypothyroidism that has_material_basis_in mutation in the TSHR gene on chromosome 14q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8954020 "DO"] synonym: "CHNG1" EXACT [] synonym: "Hypothyroidism, Nonautoimmune" EXACT [] xref: MESH:C576976 xref: MIM:275200 xref: MONDO:0010142 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070127 name: congenital nongoitrous hypothyroidism 3 def: "A congenital hypothyroidism characterized by autosomal dominant inheritance of resistance to thyrotropin that has_material_basis_in variation in the chromosome region 15q25.3-q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15870119 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8976668 "DO"] synonym: "CHNG3" EXACT [] xref: MESH:C567935 xref: MIM:609893 xref: MONDO:0012360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070128 name: congenital nongoitrous hypothyroidism 6 def: "A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the THRA gene on chromosome 17q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22168587 "DO"] synonym: "CHNG6" EXACT [] xref: MIM:614450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0070129 name: autosomal recessive cutis laxa type IID def: "An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28065471 "DO"] synonym: "ARCL2D" EXACT [] xref: MIM:617403 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070130 name: autosomal dominant cutis laxa 1 alt_id: RDO:0007941 def: "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9580666 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9873040 "DO"] synonym: "ADCL1" EXACT [] synonym: "ELN-RELATED CONDITION" BROAD [] xref: MIM:123700 is_a: DOID:0070142 ! autosomal dominant cutis laxa [Term] id: DOID:0070131 name: autosomal dominant cutis laxa 3 def: "An autosomal dominant cutis laxa characterized by thin skin with visible veins and wrinkles, cataract or corneal clouding, clenched fingers, pre- and postnatal growth retardation, moderate intellectual disability, and a combination of muscle hypotonia with brisk muscle reflexes that has_material_basis_in heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26320891 "DO"] synonym: "ADCL3" EXACT [] xref: MIM:616603 xref: RDO:9001420 is_a: DOID:0070142 ! autosomal dominant cutis laxa [Term] id: DOID:0070132 name: autosomal recessive cutis laxa type IIIA def: "A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11092761 "DO"] synonym: "ARCL3A" EXACT [] synonym: "CUTIS LAXA, CORNEAL CLOUDING, AND MENTAL RETARDATION" EXACT [] synonym: "CUTIS LAXA-CORNEAL CLOUDING-OLIGOPHRENIA SYNDROME" EXACT [] synonym: "DE BARSY SYNDROME A" EXACT [] xref: MIM:219150 xref: ORDO:35664 is_a: DOID:0070143 ! autosomal recessive cutis laxa type III [Term] id: DOID:0070133 name: autosomal recessive cutis laxa type IB alt_id: RDO:9000260 def: "An autosomal recessive cutis laxa type I characterized by disturbed elastic fiber formation resulting in severe systemic connective tissue abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the EFEMP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16685658 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19664000 "DO"] synonym: "ARCL1B" EXACT [] synonym: "AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1B" EXACT [] xref: MIM:614437 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I [Term] id: DOID:0070134 name: autosomal recessive cutis laxa type IIA alt_id: MIM:219200 def: "An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18157129 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19401719 "DO"] synonym: "ARCL2" EXACT [] synonym: "ARCL2A" EXACT [] synonym: "cutis laxa, Debre type" EXACT [] synonym: "Cutis Laxa With Bone Dystrophy" EXACT [] synonym: "CUTIS LAXA WITH CONGENITAL DISORDER OF GLYCOSYLATION" EXACT [] synonym: "Cutis Laxa With Growth And Developmental Delay" EXACT [] synonym: "Cutis Laxa With Joint Laxity And Retarded Development" EXACT [] synonym: "cutis laxa with or without congenital disorder of glycosylation" EXACT [] synonym: "CUTIS LAXA WITH OSTEODYSTROPHY" EXACT [] xref: MESH:C562632 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070135 name: autosomal recessive cutis laxa type IA alt_id: RDO:0008262 def: "An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12189163 "DO"] synonym: "ARCL1" EXACT [] synonym: "ARCL1A" EXACT [] synonym: "autosomal recessive cutis laxa type 1A" EXACT [] xref: MIM:219100 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I [Term] id: DOID:0070136 name: autosomal dominant cutis laxa 2 alt_id: RDO:9000259 def: "An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12618961 "DO"] synonym: "ADCL2" EXACT [] xref: MIM:614434 is_a: DOID:0070142 ! autosomal dominant cutis laxa [Term] id: DOID:0070137 name: autosomal recessive cutis laxa type IIB alt_id: MIM:612940 def: "A cutis laxa characterized by progeroid features that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19576563 "DO"] synonym: "ARCL2B" EXACT [] synonym: "ARCL2, progeroid type" EXACT [] synonym: "autosomal recessive cutis laxa type 2B" EXACT [] synonym: "Cutis Laxa With Progeroid Features" EXACT [] synonym: "PYCR1-RELATED CONDITION" BROAD [] xref: MESH:C567855 xref: ORDO:357064 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070138 name: autosomal recessive cutis laxa type IIIB def: "An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19648921 "DO"] synonym: "ARCL3B" EXACT [] synonym: "De Barsy syndrome B" EXACT [] synonym: "PYCR1-RELATED CONDITION" BROAD [] xref: MIM:614438 is_a: DOID:0070143 ! autosomal recessive cutis laxa type III [Term] id: DOID:0070139 name: autosomal recessive cutis laxa type IC alt_id: MIM:613177 def: "A autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the LTBP4 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19836010 "DO"] synonym: "ARCL1C" EXACT [] synonym: "autosomal recessive cutis laxa type 1C" EXACT [] synonym: "cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities" EXACT [] synonym: "Urban-Rifkin-Davis syndrome" EXACT [] synonym: "URDS" EXACT [] xref: MESH:C567716 xref: ORDO:221145 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I is_a: DOID:1222 ! cartilage disease is_a: DOID:1579 ! respiratory system disease is_a: DOID:18 ! urinary system disease is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:0070140 name: autosomal recessive cutis laxa type IIC alt_id: DOID:9003003 def: "An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28065471 "DO"] synonym: "ARCL2C" EXACT [] xref: MIM:617402 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type [Term] id: DOID:0070141 name: autosomal recessive cutis laxa type II classic type def: "A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28065471 "DO"] synonym: "ARCL2, classic type" EXACT [] synonym: "ARCL2, Debre type" EXACT [] xref: ORDO:357074 is_a: DOID:9002034 ! Autosomal Recessive Cutis Laxa [Term] id: DOID:0070142 name: autosomal dominant cutis laxa def: "A cutis laxa characterized by autosomal dominant inheritance of skin that is loose, hanging, wrinkled and lacking in elasticity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18348261 "DO"] synonym: "ADCL" EXACT [] synonym: "dominant cutis laxa" EXACT [] xref: MESH:C562627 xref: ORDO:90348 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3144 ! cutis laxa [Term] id: DOID:0070143 name: autosomal recessive cutis laxa type III def: "A cutis laxa characterized by a progeria-like appearance, ophthalmologic abnormalities, large and late-closing fontanel, joint hyperlaxity, athetoid movements, hyperreflexia, growth retardation, intellectual deficit, developmental delay, corneal clouding, and cataract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18388779 "DO"] synonym: "corneal clouding, cutis laxa, mental retardation" EXACT [] synonym: "cutis laxa, corneal clouding, and mental retardation" EXACT [] synonym: "cutis laxa-corneal clouding-intellectual disability syndrome" EXACT [] synonym: "De Barsy Moens Diercks syndrome" EXACT [] synonym: "De Barsy syndrome" EXACT [] synonym: "progeroid syndrome of De Barsy" EXACT [] xref: GARD:49 xref: MESH:C535990 xref: ORDO:2962 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9002034 ! Autosomal Recessive Cutis Laxa is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:0070144 name: autosomal recessive cutis laxa type I alt_id: DOID:9008926 alt_id: RDO:0012256 def: "A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19401719 "DO"] synonym: "autosomal recessive cutis laxa, I" EXACT [] synonym: "autosomal recessive cutis laxa type 1" EXACT [] xref: GARD:8480 xref: MESH:C562628 xref: ORDO:90439 is_a: DOID:9002034 ! Autosomal Recessive Cutis Laxa [Term] id: DOID:0070145 name: hereditary sensory and autonomic neuropathy type 5 alt_id: MIM:608654 def: "A hereditary sensory neuropathy characterized by impaired pain and thermal perception in the extremities and selective reduction in small myelinated fibers that has_material_basis_in homozygous mutation in the NGF gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14976160 "DO", https://www.ncbi.nlm.nih.gov/pubmed/77656 "DO"] synonym: "congenital sensory neuropathy with selective loss of small myelinated fibers" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type V" EXACT [] synonym: "hereditary sensory autonomic neuropathy, type 5" EXACT [] synonym: "HSAN 5" EXACT [] synonym: "HSAN5" EXACT [] synonym: "HSAN Type V" EXACT [] synonym: "HSAN V" EXACT [] xref: GARD:12328 xref: NCI:C125386 xref: NCI:C156360 xref: ORDO:608654 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008482 ! Congenital Pain Insensitivity [Term] id: DOID:0070146 name: hereditary sensory neuropathy type 4 def: "A hereditary sensory neuropathy characterized by insensitivity to pain and anhidrosis that has_material_basis_in homozygous or compound heterozygous mutation in the NTRK1 gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14272277 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696348 "DO"] synonym: "CIPA" EXACT [] synonym: "congenital insensitivity to pain with anhidrosis" EXACT [] synonym: "congenital pain insensitivity with anhidrosis" EXACT [] synonym: "congenital sensory neuropathy with anhidrosis" EXACT [] synonym: "familial dysautonomia, type II" EXACT [] synonym: "hereditary sensory and autonomic neuropathy 4" EXACT [] synonym: "hereditary sensory and autonomic neuropathy IV" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type 4" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type IV" EXACT [] synonym: "hereditary sensory autonomic neuropathy, type 4" EXACT [] synonym: "hereditary sensory neuropathy type IV" EXACT [] synonym: "HSAN 4" EXACT [] synonym: "HSAN4" EXACT [] synonym: "HSAN IV" EXACT [] synonym: "HSAN type IV" EXACT [] xref: GARD:3006 xref: MIM:256800 xref: NCI:C118633 xref: ORDO:642 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11156 ! anhidrosis is_a: DOID:9008482 ! Congenital Pain Insensitivity [Term] id: DOID:0070147 name: hereditary sensory neuropathy type 2C alt_id: RDO:9000616 def: "A hereditary sensory and autonomic neuropathy type 2 characterized by peripheral nerve degeneration and progressive distal sensory loss that has_material_basis_in homozygous or compound heterozygous mutation in the KIF1A gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21820098 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type IIC" EXACT [] synonym: "hereditary sensory neuropathy, type IIC" EXACT [] synonym: "HSN2C" EXACT [] xref: MIM:614213 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 [Term] id: DOID:0070148 name: hereditary sensory neuropathy type 1B alt_id: MIM:608088 alt_id: RDO:0013310 def: "A hereditary sensory neuropathy characterized by axonal neuropathy with distal sensory impairment, cough, and gastroesophageal reflux that has_material_basis_in variation in the chromosome region 3p24-p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12870133 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16311270 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type IB" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type I, with cough and gastroesophageal reflux" EXACT [] synonym: "hereditary sensory neuropathy, type IB" EXACT [] synonym: "HSAN1B" EXACT [] synonym: "HSAN with cough and gastroesophageal reflux" EXACT [] synonym: "HSN1B" EXACT [] xref: MESH:C564296 xref: ORDO:139564 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 is_a: DOID:8534 ! gastroesophageal reflux disease is_a: DOID:9007073 ! Cough [Term] id: DOID:0070149 name: hereditary sensory and autonomic neuropathy type 7 def: "A hereditary sensory neuropathy characterized by insensitivity to pain, mild muscle weakness, delayed motor development, hyperhidrosis and gastrointestinal dysfunction that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24036948 "DO"] synonym: "congenital insensitivity to pain with gastrointestinal dysfunction and hyperhidrosis" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type VII" EXACT [] synonym: "HSAN7" EXACT [] synonym: "HSAN VII" EXACT [] xref: GARD:12723 xref: ICD10CM:G60.8 xref: MIM:615548 xref: NCI:C125388 xref: ORDO:391397 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070150 name: hereditary sensory and autonomic neuropathy type 2B alt_id: OMIA:002032 def: "A hereditary sensory and autonomic neuropathy type 2 characterized by early childhood onset of distal sensory impairment that has_material_basis_in homozygous mutation in the FAM134B gene on chromosome 5p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19838196 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24327336 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type IIB" EXACT [] synonym: "HSAN2B" EXACT [] xref: MIM:613115 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 [Term] id: DOID:0070151 name: hereditary sensory and autonomic neuropathy type 6 def: "A hereditary sensory neuropathy characterized by neonatal hypotonia, respiratory and feeding difficulties, impaired psychomotor development, and autonomic abnormalities that has_material_basis_in homozygous mutation in the DST gene on chromosome 6p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22522446 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type VI" EXACT [] synonym: "HSAN6" EXACT [] synonym: "HSAN VI" EXACT [] xref: MIM:614653 xref: MONDO:0013839 xref: ORDO:314381 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070152 name: hereditary sensory and autonomic neuropathy type 1A def: "A hereditary sensory and autonomic neuropathy type 1 characterized by onset of sensorimotor axonal neuropathy in the first or second decades of life that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11242114 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type IA" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type IA, severe" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type I, severe" EXACT [] synonym: "hereditary sensory neuropathy type IA" EXACT [] synonym: "hereditary sensory radicular neuropathy, autosomal dominant, type 1A" EXACT [] synonym: "HSAN1A" EXACT [] synonym: "HSAN IA" EXACT [] synonym: "HSN1A" EXACT [] synonym: "HSN IA" EXACT [] xref: MIM:162400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070153 name: hereditary sensory and autonomic neuropathy type 8 def: "A hereditary sensory neuropathy characterized by congenital insensitivity to pain and decreased sweating and tear production that has_material_basis_in homozygous mutation in the PRDM12 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26005867 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type VIII" EXACT [] synonym: "HSAN8" EXACT [] synonym: "HSAN VIII" EXACT [] xref: MIM:616488 xref: MONDO:0014662 xref: ORDO:478664 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070154 name: hereditary sensory neuropathy type 1F def: "A hereditary sensory and autonomic neuropathy type 1 characterized by distal sensory impairment becomes apparent during the second or third decade of life, resulting in painless ulceration of the feet with poor healing, which can progress to osteomyelitis, bone destruction, and amputation that has_material_basis_in heterozygous mutation in the ATL3 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24459106 "DO"] synonym: "hereditary sensory neuropathy type IF" EXACT [] synonym: "HSN 1F" EXACT [] synonym: "HSN1F" EXACT [] synonym: "HSN IF" EXACT [] xref: MIM:615632 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070155 name: hereditary sensory and autonomic neuropathy type 2A def: "A hereditary sensory and autonomic neuropathy type 2 characterized by progressive sensory neuropathy with onset in childhood that has_material_basis_in mutation in the HSN2 isoform of the WNK1 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14152533 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15060842 "DO"] synonym: "acroosteolysis, Giaccai type" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type IIA" EXACT [] synonym: "hereditary sensory neuropathy, type IIA" EXACT [] synonym: "HSAN2A" EXACT [] synonym: "HSAN IIA" EXACT [] synonym: "HSN2A" EXACT [] synonym: "HSN IIA" EXACT [] synonym: "Morvan disease" RELATED [] synonym: "neurogenic acroosteolysis" EXACT [] synonym: "progressive sensory neuropathy, of children" EXACT [] xref: MIM:201300 xref: MONDO:0024309 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 [Term] id: DOID:0070156 name: hereditary sensory neuropathy type 1D def: "A hereditary sensory and autonomic neuropathy type 1 characterized dult onset of a distal axonal sensory neuropathy affecting all modalities, often associated with distal ulceration and amputation as well as hyporeflexia, although some patients may show features suggesting upper neuron involvement that has_material_basis_in heterozygous mutation in the ATL1 gene on chromosome 14q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21194679 "DO"] synonym: "hereditary sensory neuropathy type ID" EXACT [] synonym: "HSN1D" EXACT [] xref: MIM:613708 xref: MONDO:0013381 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070157 name: hereditary sensory and autonomic neuropathy type 1C alt_id: RDO:0009923 def: "A hereditary sensory and autonomic neuropathy type 1 that has_material_basis_in heterozygous mutation in the SPTLC2 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20920666 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type IC" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type IC, severe" EXACT [] synonym: "hereditary sensory neuropathy, type IC" EXACT [] synonym: "HSAN1C" EXACT [] synonym: "HSAN IC" EXACT [] synonym: "HSN1C" EXACT [] synonym: "HSN IC" EXACT [] xref: MIM:613640 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070158 name: hereditary sensory neuropathy type 1E alt_id: MIM:614116 alt_id: RDO:0015895 def: "A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has_material_basis_in heterozygous mutation in the DNMT1 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21532572 "DO"] synonym: "dementia, deafness, and sensory neuropathy" EXACT [] synonym: "DNMT1-related dementia, deafness, and sensory neuropathy" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type 1 with dementia and hearing loss" EXACT [] synonym: "hereditary sensory and autonomic neuropathy, type IE" EXACT [] synonym: "hereditary sensory neuropathy type IE" EXACT [] synonym: "hereditary sensory neuropathy with hearing loss and dementia" EXACT [] synonym: "HSN1E" EXACT [] synonym: "HSN IE" EXACT [] synonym: "HSNIE" EXACT [] xref: GARD:11927 xref: MESH:C580162 xref: ORDO:456318 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070162 ! hereditary sensory and autonomic neuropathy type 1 [Term] id: DOID:0070159 name: hereditary sensory neuropathy X-linked alt_id: MIM:310470 alt_id: RDO:0013164 def: "A hereditary sensory neuropathy characterized by X-linked inheritance of slowly progressing neuropathy with onset in the first or second decade of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3866836 "DO"] xref: MESH:C564090 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0070160 name: atypical hereditary sensory neuropathy alt_id: RDO:0013735 def: "A hereditary sensory neuropathy characterized by late onset of sensory ataxia without ulcerating acropathy or autonomic abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/191348 "DO"] xref: MESH:C564946 xref: MIM:256860 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:0070161 name: hereditary sensory and autonomic neuropathy type 2 def: "A hereditary sensory neuropathy characterized by progressively reduced sensation to pain, temperature, and touch, loss of myelinated and unmyelinated fibers, and hypotonia with onset at birth or in early childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21089229 "DO"] synonym: "hereditary sensory and autonomic neuropathy, type II" EXACT [] synonym: "hereditary sensory neuropathy, type II" EXACT [] synonym: "HSAN 2" EXACT [] synonym: "HSAN2" EXACT [] synonym: "HSAN II" EXACT [] synonym: "HSANII" EXACT [] xref: GARD:3976 xref: MESH:C567738 xref: ORDO:970 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:0070162 name: hereditary sensory and autonomic neuropathy type 1 def: "A hereditary sensory neuropathy characterized by slowly progressing, prominent, predominantly distal sensory loss and autonomic disturbances with juvenile or adult onset and autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18348718 "DO"] synonym: "hereditary sensory and autonomic neuropathy type I" EXACT [] synonym: "HSAN1" EXACT [] xref: GARD:6635 xref: NCI:C170433 xref: ORDO:36386 is_a: DOID:0050548 ! hereditary sensory neuropathy [Term] id: DOID:0070163 name: spermatogenic failure 21 def: "A male infertility due to acephalic spermatozoa that is characterized by acephalic spermatozoa, reduced sperm number and impaired sperm motility that has_material_basis_in homozygous mutation in the BRDT gene on chromosome 1p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28199965 "DO"] synonym: "SPGF21" EXACT [] xref: MIM:617644 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0070164 name: spermatogenic failure 2 def: "A spermatogenic failure that is characterized by azoospermia or severe oligozoospermia that has_material_basis_in inversions on chromosome 1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15367911 "DO"] synonym: "ASG" EXACT [] synonym: "aspermiogenesis factor" EXACT [] synonym: "SPGF2" EXACT [] xref: MIM:108420 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070165 name: spermatogenic failure 18 def: "A spermatogenic failure that is characterized by sperm flagellar morphological abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24360805 "DO"] synonym: "SPGF18" EXACT [] xref: MIM:617576 xref: MONDO:0054615 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070166 name: spermatogenic failure 20 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP44 gene on chromosome 3q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28552195 "DO"] synonym: "SPGF20" EXACT [] xref: MIM:617593 xref: MONDO:0054724 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070167 name: spermatogenic failure 6 def: "A male infertility characterized by autosomal recessive inheritance of globozoospermia that has_material_basis_in mutation in the SPATA16 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17847006 "DO"] synonym: "acrosome malformation of spermatozoa" EXACT [] synonym: "globozoospermia" BROAD [] synonym: "round-headed spermatozoa" EXACT [] synonym: "SPGF6" EXACT [] xref: MIM:102530 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia [Term] id: DOID:0070168 name: spermatogenic failure 3 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive asthenozoospermia that has_material_basis_in heterozygous mutation in the SLC26A8 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23582645 "DO"] synonym: "non-obstructive azoospermia" EXACT [] synonym: "nonobstructive azoospermia" EXACT [] synonym: "SPGF3" EXACT [] xref: MESH:C564665 xref: MIM:606766 xref: MONDO:0011720 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070169 name: spermatogenic failure 8 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or moderate to severe oligozoospermia that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20887963 "DO"] synonym: "SPGF8" EXACT [] xref: MIM:613957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070170 name: spermatogenic failure 19 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of sperm flagellar morphological abnormalities that has_material_basis_in mutation in the CFAP43 gene on chromosome 10q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28552195 "DO"] synonym: "SPGF19" EXACT [] xref: MIM:617592 xref: MONDO:0054723 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070171 name: spermatogenic failure 12 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of azoospermia or severe oligoasthenoteratozoospermia and in some cases a Sertolic cell-only phenotype that has_material_basis_in heterozygous mutation in the NANOS1 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23315541 "DO"] synonym: "SPGF12" EXACT [] xref: MIM:615413 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070172 name: spermatogenic failure 15 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia that has_material_basis_in mutation in the SYCE1 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25899990 "DO"] synonym: "SPGF15" EXACT [] xref: MIM:616950 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070173 name: spermatogenic failure 7 alt_id: MESH:C579978 alt_id: MIM:612997 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of impaired or absent sperm motility and increased incidence of morphologically abnormal sperm that has_material_basis_in mutation in the CATSPER1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19344877 "DO"] synonym: "CATSPER1-related male infertility" EXACT [] synonym: "CATSPER1-related nonsyndromic male infertility" EXACT [] synonym: "CATSPER-related nonsyndromic male infertility" EXACT [] synonym: "MIAR" EXACT [] synonym: "nonsyndromic male infertility, autosomal recessive" EXACT [] synonym: "SPGF7" EXACT [] xref: MESH:C567832 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:9001513 ! Asthenozoospermia [Term] id: DOID:0070174 name: spermatogenic failure 17 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of oocyte activation failure following intracytoplasmic sperm injection that has_material_basis_in mutation in the PLCZ1 gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26721930 "DO"] synonym: "male infertility due to oocyte activation failure" EXACT [] synonym: "SPGF17" EXACT [] xref: MIM:617214 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070176 name: spermatogenic failure 4 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of nonobstructive azoospermia caused by meiotic abnormalities that has_material_basis_in mutation in the SYCP3 gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14643120 "DO"] synonym: "Arrest of Spermatogenesis" EXACT [] synonym: "Azoospermia Due To Perturbations Of Meiosis" EXACT [] synonym: "Azoospermia With Maturation Arrest" EXACT [] synonym: "EARLY SPERMATOGENESIS MATURATION ARREST" NARROW [] synonym: "recurrent pregnancy loss 4" RELATED [] synonym: "RPRGL4" RELATED [] synonym: "Spermatogenesis arrest" EXACT [] synonym: "SPERMATOGENESIS MATURATION ARREST" EXACT [] synonym: "SPGF4" EXACT [] xref: MESH:C536875 xref: MIM:270960 xref: MONDO:0010052 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070177 name: spermatogenic failure 22 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatocyte maturation arrest resulting in azoospermia that has_material_basis_in mutation in the MEIOB gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28206990 "DO"] synonym: "SPGF22" EXACT [] xref: MIM:617706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070178 name: spermatogenic failure 10 def: "A spermatogenic failure that is characterized by defects in the annulus or the ring-like structure located at the distal end of the flagellar midpiece the autosomal dominant inheritance of that has_material_basis_in mutation in the SEPT12 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22275165 "DO"] synonym: "spermatogenic failure with defective sperm annulus" EXACT [] synonym: "SPGF10" EXACT [] xref: MIM:614822 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070179 name: spermatogenic failure 14 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of a maturation arrest in the spermatid stage of development that has_material_basis_in mutation in the ZMYND15 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24431330 "DO"] synonym: "SPGF14" EXACT [] xref: MIM:615842 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070180 name: spermatogenic failure 11 def: "A spermatogenic failure that is characterized by autosomal dominant inheritance of oligozoospermia and in some cases teratozoospermia and/or moderate asthenozoospermia that has_material_basis_in mutation in the KLHL10 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17047026 "DO"] synonym: "SPGF11" EXACT [] xref: MIM:615081 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070181 name: spermatogenic failure 23 def: "A spermatogenic failure that is characterized by autosomal recessive inhertitance of nonobstructive azoospermia that has_material_basis_in mutation in the TEX14 gene on chromosome 17q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28206990 "DO"] synonym: "SPGF23" EXACT [] xref: MIM:617707 xref: MONDO:0054727 xref: OMIA:001673 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070182 name: spermatogenic failure 13 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of azoospermia or oligozoospermia that has_material_basis_in mutation in the TAF4B gene on chromosome 18q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24431330 "DO"] synonym: "SPGF13" EXACT [] xref: MIM:615841 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070183 name: spermatogenic failure 5 alt_id: MIM:243060 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of large-headed, multiflagellar, polyploid spermatozoa that has_material_basis_in mutation in the AURKC gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17435757 "DO"] synonym: "Infertility associated with multi-tailed spermatozoa and excessive deoxyribonucleic acid" EXACT [] synonym: "infertility associated with multi-tailed spermatozoa and excessive DNA" EXACT [] synonym: "infertility associated with multitailed spermatozoa and excessive DNA" EXACT [] synonym: "macrocephalic sperm head syndrome" EXACT [] synonym: "male infertility due to macrozoospermia" EXACT [] synonym: "male infertility with large-headed, multiflagellar, polyploid spermatozoa" EXACT [] synonym: "MALE INFERTILITY WITH SPERMATOGENESIS DISORDER" EXACT [] synonym: "SPGF5" EXACT [] xref: GARD:12385 xref: MESH:C562903 xref: ORDO:137893 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070184 name: spermatogenic failure 16 def: "A male infertility due to acephalic spermatozoa that is characterized by autosomal recessive inheritance of acephalic spermatozoa that has_material_basis_in mutation in the SUN5 gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27640305 "DO"] synonym: "acephalic spermatozoa syndrome" EXACT [] synonym: "SPGF16" EXACT [] xref: MIM:617187 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0070185 name: X-linked spermatogenic failure 2 def: "A spermatogenic failure that is characterized by meiotic arrest of spermatocytes and mixed testicular atrophy that has_material_basis_in X-linked inheritance of mutation in the TEX11 gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25970010 "DO"] synonym: "male infertility from defect in meiosis" EXACT [] synonym: "SPGFX2" EXACT [] xref: MIM:309120 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia [Term] id: DOID:0070186 name: Y-linked spermatogenic failure 1 alt_id: MIM:400042 def: "A Sertoli cell-only syndrome that has_material_basis_in deletions in the Yq11 chromosomal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2603934 "DO"] synonym: "hypospermatogenesis" NARROW [] synonym: "Sertoli cell-only syndrome, incomplete" NARROW [] synonym: "Sertoli cell-only syndrome, type 1" EXACT [] synonym: "Sertoli cell-only syndrome, type I" EXACT [] synonym: "Sertoli cell-only syndrome, Y-linked" EXACT [] synonym: "SPGFY1" EXACT [] xref: MESH:C537587 is_a: DOID:0050457 ! Sertoli cell-only syndrome is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0070187 name: Y-linked spermatogenic failure 2 alt_id: MIM:415000 def: "A spermatogenic failure that is characterized by nonobstroctive azoospermia or oligozoospermia that has_material_basis_in interstitial deletions on the Yq11.221 chromosomal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19737515 "DO"] synonym: "AZF regions" NARROW [] synonym: "azoospermia factor regions" NARROW [] synonym: "HYPOSPERMATOGENESIS, NONOBSTRUCTIVE, Y-LINKED" EXACT [] synonym: "nonobstructive azoospermia, Y-linked" EXACT [] synonym: "nonobstructive spermatogenic failure, Y-linked" EXACT [] synonym: "SPGFY2" EXACT [] synonym: "Y-linked nonobstructive oligospermia" EXACT [] synonym: "Y-linked nonobstructive oligozoospermia" EXACT [] synonym: "Y-linked spermatogenic arrest" EXACT [] xref: MESH:C564030 xref: NCI:C185244 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070188 name: spermatogenic failure 1 def: "A spermatogenic failure that is characterized by autosomal recessive inheritance of spermatogenic failure resulting from meiotic defects. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7446525 "DO"] synonym: "oligochiasmatic infertility" EXACT [] synonym: "oligochiasmic infertility" EXACT [] synonym: "oligosynaptic infertility" EXACT [] synonym: "SPGF1" EXACT [] xref: MESH:C562902 xref: MIM:258150 xref: MONDO:0009776 is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0070189 name: X-linked spermatogenic failure 1 def: "A Sertoli cell-only syndrome characterized by X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10507722 "DO"] synonym: "SPGFX1" EXACT [] xref: MIM:305700 is_a: DOID:0050457 ! Sertoli cell-only syndrome [Term] id: DOID:0070191 name: autosomal recessive chronic granulomatous disease 2 alt_id: MIM:233710 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF2 gene on chromosome 1q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7795241 "DO"] synonym: "autosomal recessive CGD, cytochrome B-positive, type II" EXACT [] synonym: "autosomal recessive chronic granulomatous disease, cytochrome B-positive, type 2" EXACT [] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type II" EXACT [] synonym: "CDG2" EXACT [] synonym: "CGD2" EXACT [] synonym: "chronic granulomatous disease due to deficiency of NCF-2" EXACT [] synonym: "chronic granulomatous disease due to NCF2 deficiency" EXACT [] synonym: "deficiency of NCF2" EXACT [] synonym: "deficiency of neutrophil cytosol factor 2" EXACT [] synonym: "deficiency of P67-Phox" EXACT [] synonym: "NCF2 deficiency" EXACT [] synonym: "neutrophil cytosol factor 2 deficiency" EXACT [] synonym: "p67-phox deficiency" EXACT [] xref: MESH:C565531 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070192 name: autosomal recessive chronic granulomatous disease 1 alt_id: MIM:233700 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the NCF1 gene on chromosome 7q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2770793 "DO"] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type I" EXACT [] synonym: "CDG1" EXACT [] synonym: "CGD1" EXACT [] synonym: "CGD, autosomal recessive cytochrome B-positive, type I" EXACT [] synonym: "chronic granulomatous disease due to deficiency of NCF-1" EXACT [] synonym: "chronic granulomatous disease due to NCF1 deficiency" EXACT [] synonym: "deficiency of NCF1" EXACT [] synonym: "deficiency of neutrophil cytosol factor 1" EXACT [] synonym: "deficiency of p47-phox" EXACT [] synonym: "deficiency of SOC2" EXACT [] synonym: "deficiency of soluble oxidase component II" EXACT [] synonym: "NCF1 deficiency" EXACT [] synonym: "neutrophil cytosol factor 1 deficiency" EXACT [] synonym: "p47-phox deficiency" EXACT [] synonym: "SOC2 deficiency" EXACT [] xref: MESH:C565532 xref: NCI:C154314 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070193 name: autosomal recessive chronic granulomatous disease 4 alt_id: MIM:233690 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBA gene on chromosome 16q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2770793 "DO"] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-negative" EXACT [] synonym: "autosomal recessive cytochrome b-negative CGD" EXACT [] synonym: "CGD4" EXACT [] synonym: "CGD due to deficiency of the alpha subunit of cytochrome b" EXACT [] synonym: "chronic granulomatous disease due to deficiency of CYBA" EXACT [] synonym: "chronic granulomatous disease due to deficiency of the Alpha subunit of cytochrome B" EXACT [] synonym: "CYBA Deficiency" EXACT [] xref: MESH:C565533 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070194 name: autosomal recessive chronic granulomatous disease 3 def: "A chronic granulomatous disease characterized by that autosomal recessive inheritance has_material_basis_in mutation in the NCF4 gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19692703 "DO"] synonym: "autosomal recessive CGD, cytochrome B-positive, type III" EXACT [] synonym: "autosomal recessive chronic granulomatous disease cytochrome b-positive type III" EXACT [] synonym: "CDG3" EXACT [] synonym: "CGD3" EXACT [] synonym: "chronic granulomatous disease, due to NCF4 deficiency" EXACT [] xref: MIM:613960 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070195 name: X-linked chronic granulomatous disease alt_id: DOID:0070190 def: "A chronic granulomatous disease characterized by X-linked inheritance that has_material_basis_in mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4039107 "DO"] synonym: "atypical chronic granulomatous disease" NARROW [] synonym: "CDGX" EXACT [] synonym: "CGDX" EXACT [] synonym: "X-linked chronic granulomatous disease, cytochrome B-negative" EXACT [] synonym: "X-linked chronic granulomatous disease, cytochrome B-positive" NARROW [] synonym: "X-linked chronic granulomatous disease, variant" NARROW [] xref: MIM:306400 xref: NCI:C154315 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:0070196 name: infantile-onset distal myopathy alt_id: MIM:160300 def: "A distal myopathy that is characterized by autosomal dominant inheritance, infantile onset and progressive disease development. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5834698 "DO"] synonym: "distal myopathy with onset in infancy" EXACT [] xref: MESH:C563543 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0070197 name: distal myopathy 1 alt_id: OMIA:001200 def: "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15322983 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7847377 "DO"] synonym: "distal 1 myopathies" EXACT [] synonym: "distal myopathy type 1" EXACT [] synonym: "Gowers disease" EXACT [] synonym: "Laing distal myopathy" EXACT [] synonym: "Laing early-onset distal myopathy" EXACT [] synonym: "MPD1" EXACT [] xref: GARD:10769 xref: MIM:160500 xref: ORDO:59135 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0070198 name: Miyoshi muscular dystrophy def: "A distal myopathy that is characterized by autosomal recessive inheritance of distal muscle weakness in the upper and lower limbs that spares the intrinsic muscles of the hands and has onset in young adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3942856 "DO"] synonym: "distal muscular dystrophy, late onset, autosomal recessive" EXACT [] synonym: "Miyoshi distal myopathy" EXACT [] synonym: "Miyoshi myopathy" EXACT [] xref: GARD:9676 xref: MESH:C537480 xref: MIM:PS254130 xref: ORDO:45448 is_a: DOID:11720 ! distal myopathy is_a: DOID:767 ! muscular atrophy [Term] id: DOID:0070199 name: Miyoshi muscular dystrophy 1 def: "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the DYSF gene on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731526 "DO"] synonym: "Miyoshi myopathy 1" EXACT [] synonym: "MMD1" EXACT [] xref: MIM:254130 xref: NCI:C118846 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070198 ! Miyoshi muscular dystrophy [Term] id: DOID:0070200 name: Miyoshi muscular dystrophy 2 def: "A Miyoshi muscular dystrophy characterized by asymmetric presentation of muscle weakness and atrophy that has_material_basis_in a locus on chromosome 10. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9673985 "DO"] synonym: "Miyoshi Myopathy 2" EXACT [] synonym: "MMD2" EXACT [] xref: MESH:C567646 xref: MIM:613318 xref: MONDO:0013221 is_a: DOID:0070198 ! Miyoshi muscular dystrophy [Term] id: DOID:0070201 name: Miyoshi muscular dystrophy 3 def: "A Miyoshi muscular dystrophy that has_material_basis_in mutation in the ANO5 gene on chromosome 11p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20096397 "DO"] synonym: "Miyoshi myopathy 3" EXACT [] synonym: "MMD3" EXACT [] xref: MESH:C567645 xref: MIM:613319 xref: MONDO:0013222 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070198 ! Miyoshi muscular dystrophy [Term] id: DOID:0070202 name: familial partial lipodystrophy type 2 def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous fat from the limbs and trunk that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10587585 "DO", https://www.ncbi.nlm.nih.gov/pubmed/170190 "DO"] synonym: "Dunnigan syndrome" EXACT [] synonym: "familial lipodystrophy of limbs and lower trunk" EXACT [] synonym: "familial partial lipodystrophy Dunnigan type" EXACT [] synonym: "FPLD2" EXACT [] synonym: "partial lipodystrophy, Dunnigan" EXACT [] xref: GARD:3126 xref: MIM:151660 xref: NCI:C165527 xref: ORDO:2348 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006138 ! Laminopathies [Term] id: DOID:0070203 name: familial partial lipodystrophy type 5 def: "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CIDEC gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20049731 "DO"] synonym: "CIDEC-related FPLD" EXACT [] synonym: "familial partial lipodystrophy associated with CIDEC mutations" EXACT [] synonym: "FPLD5" EXACT [] xref: MIM:615238 xref: ORDO:435651 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070204 name: familial partial lipodystrophy type 3 def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the PPARG gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10622252 "DO"] synonym: "familial partial lipodystrophy associated with PPARG mutations" EXACT [] synonym: "FPLD3" EXACT [] synonym: "PPARG-related familial partial lipodystrophy" EXACT [] synonym: "PPARG-related FPLD" EXACT [] xref: GARD:12600 xref: MIM:604367 xref: ORDO:79083 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070205 name: familial partial lipodystrophy type 4 def: "A familial partial lipodystrophy characterized by autosomal dominant inheritance of loss of subcutaneous adipose tissue primarily from the lower limbs, insulin-resistant diabetes mellitus, hypertriglyceridemia, and hypertension that has_material_basis_in mutation in the PLIN1 gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21345103 "DO"] synonym: "familial partial lipodystrophy associated with PLIN1 mutations" EXACT [] synonym: "FPLD4" EXACT [] synonym: "PLIN1-RELATED CONDITION" EXACT [] synonym: "PLIN1-related familial partial lipodystrophy" EXACT [] synonym: "PLIN1-related FPLD" EXACT [] xref: GARD:12601 xref: MIM:613877 xref: ORDO:280356 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070206 name: familial partial lipodystrophy type 6 def: "A familial partial lipodystrophy characterized by autosomal recessive inheritance that has_material_basis_in mutation in the LIPE gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24848981 "DO"] synonym: "familial partial lipodystrophy associated with LIPE mutations" EXACT [] synonym: "FPLD6" EXACT [] synonym: "LIPE-related familial partial lipodystrophy" EXACT [] synonym: "LIPE-related FPLD" EXACT [] xref: MIM:615980 xref: ORDO:435660 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070207 name: familial partial lipodystrophy type 1 def: "A familial partial lipodystrophy characterized by loss of adipose tissue that is confined to the extremities with normal or increased fat in other areas of the body. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3712389 "DO"] synonym: "familial partial lipodystrophy, Kobberling type" EXACT [] synonym: "familial partial lipodystrophy, Köbberling type" EXACT [] synonym: "FPLD1" EXACT [] xref: GARD:12598 xref: MIM:608600 xref: ORDO:79084 is_a: DOID:0050440 ! familial partial lipodystrophy [Term] id: DOID:0070208 name: hereditary lymphedema IC def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20537300 "DO"] synonym: "LMPH1C" EXACT [] xref: MIM:613480 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070209 name: hereditary lymphedema ID def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the VEGFC gene on chromosome 4q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23410910 "DO"] synonym: "LMPH1D" EXACT [] xref: MIM:615907 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070210 name: hereditary lymphedema IA def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in mutation in the FLT4 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10835628 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9817924 "DO"] synonym: "early-onset primary congenital lymphedema" EXACT [] synonym: "EDEMA OF THE DORSUM OF FEET" NARROW [] synonym: "hereditary lymphedema type I" EXACT [] synonym: "LMPH1A" EXACT [] synonym: "LMPHM1" EXACT [] synonym: "LYMPHATIC MALFORMATION 1" EXACT [] synonym: "MILROY DISEASE LYMPHEDEMA" EXACT [] synonym: "Nonne-Milroy lymphedema" EXACT [] synonym: "PCL" EXACT [] xref: MIM:153100 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070211 name: hereditary lymphedema IB alt_id: MIM:611944 def: "A hereditary lymphedema characterized by autosomal dominant inheritance that has_material_basis_in the chromosomal region 6q16.2-q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18193458 "DO"] synonym: "LMPH1B" EXACT [] xref: MESH:C567452 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070212 name: hereditary lymphedema I def: "A hereditary lymphedema characterized by autosomal dominant inheritance of chronic, generally painless, lower limb lymphedema with onset typically at birth or in early childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9817924 "DO"] synonym: "congenital primary lymphedema" EXACT [] synonym: "hereditary lymphedema 1" EXACT [] synonym: "hereditary lymphedema type I" EXACT [] synonym: "LMPH1" EXACT [] synonym: "Milroy's disease" EXACT [] synonym: "Milroy disease" EXACT [] synonym: "Milroys disease" EXACT [] synonym: "Nonne-Milroy lymphedema" EXACT [] synonym: "PCL" EXACT [] xref: ICD10CM:Q82.0 xref: NCI:C48829 xref: ORDO:79452 is_a: DOID:0050580 ! hereditary lymphedema [Term] id: DOID:0070213 name: hereditary lymphedema II alt_id: MIM:153200 def: "A hereditary lymphedema characterized by onset around puberty of chronic lymphedema particularly in the lower limbs with an apparent autosomal dominant pattern of inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6342849 "DO"] synonym: "late-onset lymphedema" EXACT [] synonym: "LMPH2" EXACT [] synonym: "Lymphedema Praecox" EXACT [] synonym: "lymphedema preacox" EXACT [] synonym: "Meige disease" EXACT [] synonym: "Meige lymphedema" EXACT [] xref: GARD:3324 xref: ICD10CM:I89.0 xref: MESH:C562467 xref: ORDO:90186 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0070214 name: familial hyperinsulinemic hypoglycemia 7 alt_id: MIM:610021 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postexercise hypoglycemia with marked hyperinsulinism that has_material_basis_in mutation in the SLC16A1 gene on chromosome 1p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17701893 "DO"] synonym: "EIHI" EXACT [] synonym: "exercise-induced hyperinsulinemic hypoglycemia" EXACT [] synonym: "exercise-induced hyperinsulinism" EXACT [] synonym: "HHF7" EXACT [] synonym: "hyperinsulinism due to monocarboxylate transporter 1 deficiency" EXACT [] synonym: "hyperinsulinism due to SLC16A1 deficiency" EXACT [] xref: GARD:9932 xref: MESH:C538376 xref: NCI:C131839 xref: ORDO:165991 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070215 name: familial hyperinsulinemic hypoglycemia 4 alt_id: MIM:609975 def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia with seizures that has_material_basis_in mutation in the HADH gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11489939 "DO"] synonym: "HHF4" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [] synonym: "hyperinsulinism due to glutamodehydrogenase deficiency" EXACT [] synonym: "hyperinsulinism due to SCHAD deficiency" EXACT [] synonym: "hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency" EXACT [] xref: GARD:2819 xref: MESH:C566493 xref: ORDO:71212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070216 name: familial hyperinsulinemic hypoglycemia 3 alt_id: MIM:602485 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of a reduced threshold for insulin release and hypoglycemia induced by fasting or protein rich meals that has_material_basis_in activating mutations in the GCK gene on chromosome 7p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11916951 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9435328 "DO"] synonym: "HHF3" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to glucokinase deficiency" EXACT [] synonym: "hyperinsulinism due to glucokinase deficiency" EXACT [] xref: GARD:2818 xref: MESH:C538374 xref: ORDO:79299 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070217 name: familial hyperinsulinemic hypoglycemia 6 alt_id: MIM:606762 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of excessive insulin secretion, asymptomatic hyperammonemia and episodes of hypoglycemia induced by fasting or protein rich meals that has_material_basis_in mutation in the GLUD1 gene on chromosome 10q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8769351 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9571255 "DO"] synonym: "HHF6" EXACT [] synonym: "HI/HA syndrome" EXACT [] synonym: "hyperinsulinism-hyperammonemia syndrome" EXACT [] xref: GARD:9931 xref: MESH:C538375 xref: ORDO:35878 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070218 name: familial hyperinsulinemic hypoglycemia 2 def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8923010 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9356020 "DO"] synonym: "autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency" EXACT [] synonym: "HHF2" EXACT [] xref: MIM:601820 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070219 name: familial hyperinsulinemic hypoglycemia 1 def: "A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the ABCC8 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7005072 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7716548 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8545179 "DO"] synonym: "CONGENITAL ISOLATED HYPERINSULINISM" EXACT [] synonym: "HHF1" EXACT [] synonym: "HYPERINSULINEMIC HYPOGLYCEMIA DUE TO FOCAL ADENOMATOUS HYPERPLASIA" EXACT [] synonym: "HYPERINSULINISM, CONGENITAL" EXACT [] synonym: "HYPERINSULINISM, FAMILIAL, WITH PANCREATIC NESIDIOBLASTOSIS" EXACT [] synonym: "HYPOGLYCEMIA, HYPERINSULINEMIC, OF INFANCY" EXACT [] synonym: "NESIDIOBLASTOSIS OF PANCREAS" EXACT [] synonym: "PERSISTENT HYPERINSULINEMIC HYPOGLYCEMIA OF INFANCY" EXACT [] synonym: "PHHI" EXACT [] xref: MIM:256450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070220 name: familial hyperinsulinemic hypoglycemia 5 def: "A hyperinsulinemic hypoglycemia characterized by autosomal dominant inheritance of postprandial hypoglycemia, fasting hyperinsulinemia, and an elevated serum insulin-to-C peptide ratio that has_material_basis_in mutation in the INSR gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15161766 "DO"] synonym: "HHF5" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to INSR deficiency" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to insulin receptor deficiency" EXACT [] synonym: "hyperinsulinism due to INSR deficiency" EXACT [] xref: MESH:C566494 xref: MIM:609968 xref: MONDO:0012381 xref: ORDO:263458 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia [Term] id: DOID:0070221 name: progressive familial intrahepatic cholestasis def: "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15239083 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8014759 "DO"] synonym: "Byler disease" EXACT [] synonym: "PFIC" EXACT [] xref: MIM:PS211600 xref: MONDO:0015762 xref: NCI:C84453 xref: ORDO:172 is_a: DOID:1852 ! intrahepatic cholestasis is_a: DOID:630 ! genetic disease [Term] id: DOID:0070222 name: progressive familial intrahepatic cholestasis 2 alt_id: MIM:601847 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9806540 "DO"] synonym: "ABCB11-RELATED CONDITION" BROAD [] synonym: "BSEP deficiency" EXACT [] synonym: "FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2" BROAD [] synonym: "PFIC2" EXACT [] synonym: "PROGRESSIVE FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2" EXACT [] xref: GARD:1288 xref: MESH:C535934 xref: ORDO:79304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070223 name: progressive familial intrahepatic cholestasis 3 alt_id: MIM:602347 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intrahepatic cholestasis and elevated serum GGT1 activity that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9419367 "DO"] synonym: "ABCB4-related intrahepatic cholestasis" EXACT [] synonym: "Low gamma-GT Familial Intrahepatic Cholestasis" EXACT [] synonym: "MDR3 Deficiency" EXACT [] synonym: "PFIC3" EXACT [] synonym: "progressive familial intrahepatic cholestasis 3 (PFIC 3)" EXACT [] synonym: "progressive familial intrahepatic cholestasis 3 (PFIC3)" EXACT [] synonym: "progressive familial intrahepatic cholestasis with elevated serum gama-glutamyltransferase" EXACT [] synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" EXACT [] xref: GARD:1289 xref: MESH:C535935 xref: ORDO:79305 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070224 name: progressive familial intrahepatic cholestasis 4 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the TJP2 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24614073 "DO"] synonym: "PFIC4" EXACT [] synonym: "progressive familial intrahepatic cholestasis, (PFIC4-like)" RELATED [] synonym: "TJP2 deficit" EXACT [] synonym: "TJP2-RELATED CONDITION" BROAD [] xref: MIM:615878 xref: ORDO:480483 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070225 name: progressive familial intrahepatic cholestasis 5 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance of intralobular cholestasis with onset in the neonatal period that has_material_basis_in mutation in the NR1H4 gene on chromosome 12q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26888176 "DO"] synonym: "NR1H4 deficiency" EXACT [] synonym: "NR1H4-RELATED CONDITION" EXACT [] synonym: "PFIC5" EXACT [] xref: MIM:617049 xref: ORDO:480476 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070226 name: progressive familial intrahepatic cholestasis 1 def: "A progressive familial intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9500542 "DO"] synonym: "Byler's disease" EXACT [] synonym: "Byler disease" EXACT [] synonym: "fatal intrahepatic cholestasis" EXACT [] synonym: "FIC1 deficiency" EXACT [] synonym: "PFIC1" EXACT [] synonym: "progressive familial intrahepatic cholestasis" EXACT [] synonym: "progressive familial intrahepatic cholestasis type 1 (PFIC 1)" EXACT [] synonym: "progressive familial intrahepatic cholestasis type 1 (PFIC1)" EXACT [] xref: GARD:9802 xref: MESH:C535933 xref: MIM:211600 xref: MONDO:0008892 xref: ORDO:79306 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis [Term] id: DOID:0070227 name: intrahepatic cholestasis of pregnancy def: "An intrahepatic cholestasis characterized by reversible cholestasis typically occurring in the second or third trimester of pregnancy, elevated serum aminotransferases and bile acid level and resolution of symptoms by 2 to 3 weeks after delivery. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27936482 "DO"] synonym: "cholestasis of pregnancy" EXACT [] synonym: "familial intrahepatic cholestasis of pregnancy" EXACT [] synonym: "familial recurrent intrahepatic cholestasis of pregnancy" EXACT [] synonym: "gravidic intrahepatic cholestasis" EXACT [] synonym: "ICP" EXACT [] synonym: "obstetric cholestasis" EXACT [] synonym: "pregnancy related cholestasis" EXACT [] synonym: "recurrent intrahepatic cholestasis of pregnancy" EXACT [] xref: EFO:0009048 xref: GARD:9804 xref: MESH:C535932 xref: ORDO:69665 is_a: DOID:1852 ! intrahepatic cholestasis is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:0070228 name: intrahepatic cholestasis of pregnancy 1 def: "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15888793 "DO"] synonym: "ICP1" EXACT [] synonym: "pregnancy related cholestasis 1" EXACT [] xref: MIM:147480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070227 ! intrahepatic cholestasis of pregnancy [Term] id: DOID:0070229 name: intrahepatic cholestasis of pregnancy 3 alt_id: RDO:9000229 def: "An intrahepatic cholestasis of pregnancy characterized by autosomal dominant inheritance that has_material_basis_in mutation in the ABCB4 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9419367 "DO"] synonym: "ICP3" EXACT [] synonym: "pregnancy related cholestasis 3" EXACT [] xref: EFO:0009150 xref: MIM:614972 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070227 ! intrahepatic cholestasis of pregnancy [Term] id: DOID:0070230 name: benign recurrent intrahepatic cholestasis def: "An intrahepatic cholestasis characterized by intermittent, recurrent episodes of intrahepatic cholestasis mostly without progression to liver damage or extrahepatic bile duct obstruction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23402083 "DO"] synonym: "BRIC" EXACT [] synonym: "Summerskill-Walshe-Tygstrup syndrome" EXACT [] xref: GARD:12185 xref: MIM:PS243300 xref: NCI:C84402 xref: ORDO:65682 is_a: DOID:1852 ! intrahepatic cholestasis [Term] id: DOID:0070231 name: benign recurrent intrahepatic cholestasis 1 def: "A benign recurrent intrahepatic cholestasis characterized by typically autosomal recessive inheritance that has_material_basis_in mutation in the ATP8B1 gene on chromosome 18q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9500542 "DO"] synonym: "BRIC1" EXACT [] synonym: "BRIC type 1" EXACT [] synonym: "Summerskill syndrome" EXACT [] xref: GARD:10028 xref: MIM:243300 xref: ORDO:99960 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070230 ! benign recurrent intrahepatic cholestasis [Term] id: DOID:0070232 name: benign recurrent intrahepatic cholestasis 2 def: "A benign recurrent intrahepatic cholestasis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the ABCB11 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15300568 "DO"] synonym: "ABCB11-RELATED CONDITION" BROAD [] synonym: "benign recurrent intrahepatic cholestasis 2 (BRIC2)" EXACT [] synonym: "benign recurrent intrahepatic cholestasis type 2" EXACT [] synonym: "BRIC2" EXACT [] synonym: "BRIC type 2" EXACT [] synonym: "FAMILIAL INTRAHEPATIC CHOLESTASIS TYPE 2" BROAD [] xref: GARD:10029 xref: MIM:605479 xref: ORDO:99961 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070230 ! benign recurrent intrahepatic cholestasis [Term] id: DOID:0070233 name: Loeys-Dietz syndrome 4 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB2 gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22772368 "DO"] synonym: "aortic and cerebral aneurysm with arterial tortuosity and skeletal manifestations" EXACT [] synonym: "LDS4" EXACT [] xref: MIM:614816 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070234 name: Loeys-Dietz syndrome 2 alt_id: MIM:610168 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15235604 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15731757 "DO"] synonym: "AAT3" EXACT [] synonym: "familial thoracic aortic aneurysm 3" EXACT [] synonym: "familial throacic aortic aneurysm 3" RELATED [] synonym: "LDS2" EXACT [] synonym: "Loeys-Dietz Syndrome, Type 2" EXACT [] synonym: "Loeys-Dietz Syndrome, Type 2b" EXACT [] synonym: "Marfan syndrome/Loeys-Dietz syndrome/familial thoracic aortic aneurysms and dissections" EXACT [] synonym: "Marfan syndrome, type II" EXACT [] xref: EFO:0009299 xref: MESH:C537783 xref: NCI:C114768 is_a: DOID:0050466 ! Loeys-Dietz syndrome is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:0070235 name: Loeys-Dietz syndrome 1 alt_id: MIM:609192 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFBR1 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15731757 "DO"] synonym: "AAT5" EXACT [] synonym: "familial thoracic aortic aneurysm 5" EXACT [] synonym: "familial throacic aortic aneurysm 5" EXACT [] synonym: "Furlong syndrome" EXACT [] synonym: "LDS1" EXACT [] synonym: "Loeys-Dietz syndrome, type 2A" EXACT [] xref: MESH:C567156 is_a: DOID:0050466 ! Loeys-Dietz syndrome is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:0070236 name: Loeys-Dietz syndrome 5 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23824657 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25835445 "DO"] synonym: "LDS5" EXACT [] synonym: "Reinhoff syndrome" EXACT [] synonym: "Rienhoff syndrome" EXACT [] synonym: "RNHF" EXACT [] xref: EFO:1000012 xref: MIM:615582 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070237 name: Loeys-Dietz syndrome 3 def: "A Loeys-Dietz syndrome that has_material_basis_in heterozygous mutation in the SMAD3 gene on chromosome 15q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21217753 "DO"] synonym: "ANEURYSMS-OSTEOARTHRITIS SYNDROME" EXACT [] synonym: "LDS1C" EXACT [] synonym: "LDS3" EXACT [] synonym: "LOEYS-DIETZ SYNDROME, TYPE 1C" EXACT [] synonym: "Loeys-Dietz syndrome with osteoarthritis" EXACT [] xref: MIM:613795 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:0070238 name: primary coenzyme Q10 deficiency 1 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ2 gene on chromosome 4q21.22-q21.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19375058 "DO"] synonym: "coenzyme Q deficiency 1" EXACT [] synonym: "COQ10D1" EXACT [] synonym: "COQ2-RELATED CONDITION" BROAD [] synonym: "CoQ deficiency 1" EXACT [] synonym: "primary CoQ10 deficiency 1" EXACT [] synonym: "ubiquinone deficiency 1" EXACT [] xref: MIM:607426 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070239 name: primary coenzyme Q10 deficiency 2 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS1 gene on chromosome 10p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17332895 "DO"] synonym: "COQ10D2" EXACT [] synonym: "deafness-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [] synonym: "hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome" EXACT [] xref: MIM:614651 xref: ORDO:254898 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070240 name: primary coenzyme Q10 deficiency 3 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the PDSS2 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17186472 "DO"] synonym: "COQ10D3" EXACT [] synonym: "PDSS2-RELATED CONDITION" EXACT [] xref: MIM:614652 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070241 name: primary coenzyme Q10 deficiency 4 alt_id: MIM:612016 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the ADCK3 gene on chromosome 1q42.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18319072 "DO"] synonym: "autosomal recessive cerebellar ataxia type 2" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia 9" EXACT [] synonym: "COQ10D4" EXACT [] synonym: "COQ8A-RELATED CONDITION" EXACT [] synonym: "SCAR9" EXACT [] xref: GARD:10294 xref: MESH:C567436 xref: ORDO:139485 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0070242 name: primary coenzyme Q10 deficiency 5 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ9 gene on chromosome 16q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19375058 "DO"] synonym: "COQ10D5" EXACT [] synonym: "COQ9-RELATED CONDITION" EXACT [] synonym: "encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome" EXACT [] synonym: "ORDO:319678" EXACT [] xref: MIM:614654 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070243 name: primary coenzyme Q10 deficiency 6 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ6 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21540551 "DO"] synonym: "COQ10D6" EXACT [] synonym: "familial steroid-resistant nephrotic syndrome with sensorineural deafness" EXACT [] xref: MIM:614650 xref: ORDO:280406 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070244 name: primary coenzyme Q10 deficiency 7 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ4 gene on chromosome 9q34.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25658047 "DO"] synonym: "COQ10D7" EXACT [] synonym: "COQ4-related neonatal encephalomyopathy" EXACT [] synonym: "neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome" EXACT [] xref: MIM:616276 xref: ORDO:457185 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070245 name: primary coenzyme Q10 deficiency 8 def: "A primary coenzyme Q10 deficiency that has_material_basis_in an autosomal recessive mutation of the COQ7 gene on chromosome 16p12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26084283 "DO"] synonym: "coenzyme Q10 deficiency-8" EXACT [] synonym: "COQ10D8" EXACT [] xref: MIM:616733 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease [Term] id: DOID:0070246 name: X-linked Emery-Dreifuss muscular dystrophy 1 alt_id: MIM:310300 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8042665 "DO"] synonym: "EDMD1" EXACT [] synonym: "EMD1" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 1" EXACT [] synonym: "tardive muscular dystrophy, Dreifuss-Emery type, with contractures" EXACT [] synonym: "X-linked scapuloperoneal syndrome" EXACT [] xref: MESH:C535734 xref: NCI:C168730 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy is_a: DOID:9006836 ! Contracture [Term] id: DOID:0070247 name: autosomal dominant Emery-Dreifuss muscular dystrophy 2 alt_id: DOID:0110301 alt_id: MESH:D000083144 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10080180 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10814726 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=30055862 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1B" EXACT [] synonym: "EDMD2" EXACT [] synonym: "EMD2" EXACT [] synonym: "Emery Dreifuss muscular dystrophy 2" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy, autosomal dominant" EXACT [] synonym: "Hauptmann-Thannhauser muscular dystrophy" EXACT [] synonym: "LGMD1B" EXACT [] synonym: "limb-girdle muscular dystrophy due to lamin A/C deficiency" EXACT [] synonym: "muscular dystrophy, limb-girdle type 1B" EXACT [] synonym: "muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant" EXACT [] synonym: "proximal muscular dystrophy type 1B" EXACT [] synonym: "scapuloilioperoneal atrophy with cardiopathy" EXACT [] xref: MIM:181350 xref: NCI:C126745 xref: ORDO:264 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy is_a: DOID:9008000 ! Autosomal Emery-Dreifuss Muscular Dystrophy [Term] id: DOID:0070248 name: autosomal recessive Emery-Dreifuss muscular dystrophy 3 alt_id: MIM:616516 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal recessive mutation of the LMNA gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10739764 "DO"] synonym: "atypical Emery-Dreifuss muscular dystrophy, autosomal recessive" EXACT [] synonym: "EDMD3" EXACT [] xref: MESH:C567633 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008000 ! Autosomal Emery-Dreifuss Muscular Dystrophy [Term] id: DOID:0070249 name: autosomal dominant Emery-Dreifuss muscular dystrophy 4 alt_id: MIM:612998 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17761684 "DO"] synonym: "EDMD4" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 4" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" EXACT [] xref: MESH:C567831 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070250 name: autosomal dominant Emery-Dreifuss muscular dystrophy 5 alt_id: MIM:612999 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE2 gene on chromosome 14q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17761684 "DO"] synonym: "EDMD5" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 5" EXACT [] synonym: "SYNE2-RELATED CONDITION" EXACT [] xref: MESH:C567830 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070251 name: X-linked Emery-Dreifuss muscular dystrophy 6 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of the FHL1 gene on chromosome Xq26.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18179888 "DO"] synonym: "EDMD6" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 6" EXACT [] synonym: "X-Linked Myopathy with Postural Muscle Atrophy" EXACT [] synonym: "XMPMA" EXACT [] xref: MIM:300696 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070252 name: autosomal dominant Emery-Dreifuss muscular dystrophy 7 def: "An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21391237 "DO"] synonym: "EDMD7" EXACT [] synonym: "Emery-Dreifuss muscular dystrophy 7, AD" EXACT [] xref: MIM:614302 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy [Term] id: DOID:0070253 name: congenital disorder of glycosylation type IIa alt_id: MIM:212066 def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MGAT2 gene on chromosome 14q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8127054 "DO"] synonym: "Alkuraya syndrome" EXACT [] synonym: "Carbohydrate-deficient glycoprotein syndrome, type 2" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndrome, type II" EXACT [] synonym: "CDG2A" EXACT [] synonym: "CDG IIA" EXACT [] synonym: "CDGIIA" EXACT [] synonym: "CDGS2" EXACT [] synonym: "congenital disorder of glycosylation type 2A" EXACT [] synonym: "mental retardation, growth retardation, prominent columella, and open mouth" EXACT [] xref: GARD:9828 xref: MESH:C535752 xref: ORDO:79329 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:0070254 name: congenital disorder of glycosylation type IIb alt_id: MIM:606056 def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the MOGS gene on chromosome 2p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10788335 "DO"] synonym: "CDG2B" EXACT [] synonym: "CDG IIB" EXACT [] synonym: "CDGIIB" EXACT [] synonym: "congenital disorder of glycosylation type 2B" EXACT [] synonym: "glucosidase I deficiency" EXACT [] xref: GARD:10767 xref: MESH:C565264 xref: ORDO:79330 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070255 name: congenital disorder of glycosylation type IIc def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35C1 gene on chromosome 11p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10590041 "DO"] comment: Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases. synonym: "CDG2C" EXACT [] synonym: "CDG IIc" EXACT [] synonym: "CDGIIc" EXACT [] synonym: "congenital disorder of glycosylation type 2C" EXACT [] synonym: "Rambam Hasharon syndrome" EXACT [] synonym: "RHS" EXACT [] xref: GARD:4634 xref: MESH:C535755 xref: MIM:266265 xref: NCI:C4690 xref: ORDO:99843 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070256 name: congenital disorder of glycosylation type IId alt_id: MESH:C564625 alt_id: MIM:607091 def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the B4GALT1 gene on chromosome 9p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11901181 "DO"] synonym: "CDG2D" EXACT [] synonym: "CDG IID" EXACT [] synonym: "CDGIID" EXACT [] synonym: "congenital disorder of glycosylation type 2D" EXACT [] synonym: "congenital disorder of glycosylation, type IIID" RELATED [] xref: GARD:9841 xref: MESH:C535753 xref: ORDO:79332 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070257 name: congenital disorder of glycosylation type IIe def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG7 gene on chromosome 16p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15107842 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT [] synonym: "CDG2E" EXACT [] synonym: "CDG IIE" EXACT [] synonym: "CDGIIE" EXACT [] synonym: "CDG syndrome type IIe" EXACT [] synonym: "COG7-CDG" EXACT [] synonym: "COG7-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2E" EXACT [] xref: GARD:9842 xref: MESH:C535754 xref: MIM:608779 xref: MONDO:0012118 xref: ORDO:79333 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070258 name: congenital disorder of glycosylation type IIf alt_id: MIM:603585 def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC35A1 gene on chromosome 6q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11157507 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIf" EXACT [] synonym: "CDG2F" EXACT [] synonym: "CDG IIF" EXACT [] synonym: "CDGIIF" EXACT [] synonym: "CMP-sialic acid transporter deficiency" EXACT [] synonym: "congenital disorder of glycosylation type 2F" EXACT [] synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIF, MODIFIER OF" RELATED [] synonym: "SLC35A1-CDG" EXACT [] xref: GARD:12409 xref: MESH:C567040 xref: MONDO:0011342 xref: ORDO:238459 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070259 name: congenital disorder of glycosylation type IIg def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG1 gene on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16537452 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIg" EXACT [] synonym: "CDG2G" EXACT [] synonym: "CDGII/COG1 cerebrocostomandibular-like syndrome" EXACT [] synonym: "CDG IIG" EXACT [] synonym: "CDGIIG" EXACT [] synonym: "congenital disorder of glycosylation type 2G" EXACT [] xref: GARD:10226 xref: MESH:C535756 xref: MIM:611209 xref: MONDO:0012637 xref: ORDO:263508 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070260 name: congenital disorder of glycosylation type IIh def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG8 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17220172 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT [] synonym: "CDG2H" EXACT [] synonym: "CDG IIh" EXACT [] synonym: "CDGIIH" EXACT [] synonym: "CDG IIIH" EXACT [] synonym: "COG8-CDG" EXACT [] synonym: "congenital disorder of glycosylation type 2H" EXACT [] xref: GARD:12411 xref: MESH:C566987 xref: MIM:611182 xref: MONDO:0012635 xref: ORDO:95428 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070261 name: congenital disorder of glycosylation type IIi def: "A congenital disorder of glycosylation type II that has_material_basis_in a mutation of the COG5 gene on chromosome 7q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19690088 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIi" EXACT [] synonym: "CDG2I" EXACT [] synonym: "CDG IIi" EXACT [] synonym: "CDGIIi" EXACT [] synonym: "CDG syndrome type IIi" EXACT [] synonym: "COG5-CDG" EXACT [] synonym: "COG5-congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2I" EXACT [] xref: GARD:12348 xref: MIM:613612 xref: MONDO:0013325 xref: ORDO:263487 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070262 name: congenital disorder of glycosylation type IIj def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19494034 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIj" EXACT [] synonym: "CDG2J" EXACT [] synonym: "CDG IIj" EXACT [] synonym: "CDGIIj" EXACT [] synonym: "CDG syndrome type IIj" EXACT [] synonym: "COG4-CDG" EXACT [] synonym: "COG4-related congenital disorder of glycosylation, autosomal dominant" NARROW [] synonym: "congenital disorder of glycosylation type 2J" EXACT [] xref: GARD:12412 xref: MIM:613489 xref: MONDO:0013281 xref: ORDO:263501 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070263 name: congenital disorder of glycosylation type IIk def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM165 gene on chromosome 4q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22683087 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIk" EXACT [] synonym: "CDG2k" EXACT [] synonym: "CDG IIk" EXACT [] synonym: "CDGIIk" EXACT [] synonym: "CDG syndrome type IIk" EXACT [] synonym: "congenital disorder of glycosylation type 2K" EXACT [] synonym: "TMEM165-CDG" EXACT [] xref: GARD:12413 xref: MIM:614727 xref: MONDO:0013870 xref: ORDO:314667 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070264 name: congenital disorder of glycosylation type IIl def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG6 gene on chromosome 13q14.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20605848 "DO"] synonym: "CDG2L" EXACT [] synonym: "CDG IIl" EXACT [] synonym: "CDGIIl" EXACT [] synonym: "CDG syndrome type IIL" EXACT [] synonym: "COG6-CGD" EXACT [] synonym: "COG6-RELATED CONDITION" BROAD [] synonym: "congenital disorder of glycosylation type 2L" EXACT [] xref: GARD:10944 xref: MIM:614576 xref: MONDO:0013810 xref: ORDO:464443 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070265 name: congenital disorder of glycosylation type IIm alt_id: DOID:0080469 def: "A congenital disorder of glycosylation type II that is characterized by infantile onset seizures, hypsarrhythmia, hypotonia, and severe intellectual disability with lack of speech and that has_material_basis_in X-linked dominant inheritance of hemizygous or heterozygous mutation in the SLC35A2 gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23561849 "DO"] synonym: "CDG2M" EXACT [] synonym: "CDG IIm" EXACT [] synonym: "CDGIIm" EXACT [] synonym: "CDG syndrome type IIm" EXACT [] synonym: "congenital disorder of glycosylation type 2M" EXACT [] synonym: "DEE22" EXACT [] synonym: "developmental and epileptic encephalopathy 22" EXACT [] synonym: "early infantile epileptic encephalopathy 22" EXACT [] synonym: "EIEE22" EXACT [] synonym: "SLC35A2-CDG" EXACT [] xref: GARD:12403 xref: MIM:300896 xref: MONDO:0010478 xref: ORDO:356961 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0070266 name: congenital disorder of glycosylation type IIn def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the SLC39A8 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26637978 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIn" EXACT [] synonym: "CDG2N" EXACT [] synonym: "CDG IIn" EXACT [] synonym: "CDGIIn" EXACT [] synonym: "CDG syndrome type IIn" EXACT [] synonym: "congenital disorder of glycosylation type 2N" EXACT [] synonym: "SLC39A8-CDG" EXACT [] xref: MIM:616721 xref: MONDO:0014746 xref: ORDO:468699 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070267 name: congenital disorder of glycosylation type IIo def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the CCDC115 gene on chromosome 2q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26833332 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIo" EXACT [] synonym: "CCDC115-CDG" EXACT [] synonym: "CDG2O" EXACT [] synonym: "CDG IIo" EXACT [] synonym: "CDGIIo" EXACT [] synonym: "CDG syndrome type IIo" EXACT [] synonym: "congenital disorder of glycosylation type 2O" EXACT [] xref: MIM:616828 xref: MONDO:0014789 xref: ORDO:468684 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070268 name: congenital disorder of glycosylation type IIp def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the TMEM199 gene on chromosome 17q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26833330 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type IIp" EXACT [] synonym: "CDG2P" EXACT [] synonym: "CDG IIp" EXACT [] synonym: "CDGIIp" EXACT [] synonym: "CDG syndrome type IIp" EXACT [] synonym: "congenital disorder of glycosylation type 2P" EXACT [] synonym: "TMEM199-CDG" EXACT [] xref: MIM:616829 xref: MONDO:0014790 xref: ORDO:466703 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070269 name: congenital disorder of glycosylation type IIq def: "A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24784932 "DO"] synonym: "CDG2Q" EXACT [] synonym: "CDG IIq" EXACT [] synonym: "CDGIIq" EXACT [] synonym: "COG2-CDG" EXACT [] synonym: "COG2-related congenital disorder of glycosylation" EXACT [] synonym: "congenital disorder of glycosylation type 2Q" EXACT [] xref: MIM:617395 xref: MONDO:0054559 xref: ORDO:435934 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0070270 name: hereditary nonpolyposis colorectal cancer type 8 alt_id: MIM:613244 def: "A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19098912 "DO"] synonym: "HNPCC8" EXACT [] xref: MESH:C567685 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070271 name: Lynch syndrome 1 def: "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8261515 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8574961 "DO"] synonym: "COCA 1" EXACT [] synonym: "COCA1" EXACT [] synonym: "Colon cancer, familial nonpolyposis, type 1" EXACT [] synonym: "FCC1" EXACT [] synonym: "hereditary non-polyposis colon cancer type 1" EXACT [] synonym: "hereditary nonpolyposis colorectal cancer, type 1" EXACT [] synonym: "HNPCC1" EXACT [] synonym: "Lynch cancer family syndrome I" RELATED [] synonym: "Lynch syndrome I" RELATED [] synonym: "Lynch syndrome I (site-specific colonic cancer)" RELATED [] synonym: "Lynch syndrome II" RELATED [] xref: MESH:C537261 xref: MIM:120435 xref: MONDO:0007356 xref: NCI:C6725 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070272 name: hereditary nonpolyposis colorectal cancer type 5 alt_id: MIM:614350 alt_id: RDO:0012705 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9354786 "DO"] synonym: "hereditary nonpolyposis colon cancer type 5" EXACT [] synonym: "HNPCC5" EXACT [] xref: MESH:C563456 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070273 name: hereditary nonpolyposis colorectal cancer type 6 alt_id: MIM:614331 alt_id: RDO:0014516 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the TGFBR2 gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590282 "DO"] synonym: "hereditary nonpolyposis colon cancer type 6" EXACT [] synonym: "HNPCC6" EXACT [] xref: MESH:C566039 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070274 name: hereditary nonpolyposis colorectal cancer type 2 alt_id: MIM:609310 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8128251 "DO"] synonym: "COCA2" EXACT [] synonym: "familial nonpolyposis colon cancer type 2" EXACT [] synonym: "FCC2" EXACT [] synonym: "HNPCC2" EXACT [] synonym: "Lynch cancer family syndrome 2" EXACT [] synonym: "Lynch cancer family syndrome II" EXACT [] synonym: "Lynch syndrome II" EXACT [] synonym: "MLH1-RELATED CONDITION" BROAD [] xref: MESH:D055847 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070275 name: hereditary nonpolyposis colorectal cancer type 4 alt_id: MIM:614337 alt_id: RDO:0013082 def: "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8072530 "DO"] synonym: "HNPCC4" EXACT [] synonym: "LYNCH4" EXACT [] synonym: "LYNCH SYNDROME 4" EXACT [] synonym: "PMS2-RELATED CONDITION" BROAD [] xref: MESH:C563971 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070276 name: hereditary nonpolyposis colorectal cancer type 7 alt_id: MIM:614385 alt_id: RDO:0014324 def: "A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12702580 "DO"] synonym: "hereditary nonpolyposis colorectal cancer-7" EXACT [] synonym: "HNPCC7" EXACT [] synonym: "MLH3-related Lynch syndrome" EXACT [] xref: MESH:C565777 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:0070277 name: primary autosomal recessive microcephaly 15 def: "A primary autosomal recessive microcephaly characterized by impaired intellectual development with poor speech, progressive microcephaly, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the MFSD2A gene on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30043326/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26005868 "DO"] synonym: "MCPH15" EXACT [] synonym: "NEDMISBA" EXACT [] synonym: "neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities" EXACT [] xref: MIM:616486 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070278 name: primary autosomal recessive microcephaly 7 alt_id: MIM:612703 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the STIL gene on chromosome 1p33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19215732 "DO"] synonym: "MCPH7" EXACT [] xref: MESH:C567198 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070279 name: primary autosomal recessive microcephaly 14 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24951542 "DO"] synonym: "MCPH14" EXACT [] xref: MIM:616402 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070280 name: primary autosomal recessive microcephaly 5 alt_id: MESH:C567221 alt_id: MIM:608716 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ASPM gene on chromosome 1q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12355089 "DO"] synonym: "ASPM-RELATED CONDITION" EXACT [] synonym: "MCPH5" EXACT [] synonym: "primary autosomal recessive microcephaly 5 with simplified gyral pattern" NARROW [] xref: MESH:C563871 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070281 name: primary autosomal recessive microcephaly 19 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the COPB2 gene on chromosome 3q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29036432 "DO"] synonym: "COPB2-RELATED CONDITION" BROAD [] synonym: "MCPH19" EXACT [] xref: MIM:617800 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070282 name: primary autosomal recessive microcephaly 8 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP135 gene on chromosome 4q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22521416 "DO"] synonym: "CEP135-RELATED CONDITION" EXACT [] synonym: "MCPH8" EXACT [] xref: MIM:614673 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070283 name: primary autosomal recessive microcephaly 13 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPE gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24748105 "DO"] synonym: "CENPE-RELATED CONDITION" EXACT [] synonym: "MCPH13" EXACT [] synonym: "MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE" EXACT [] xref: MIM:616051 xref: MONDO:0014473 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070284 name: primary autosomal recessive microcephaly 12 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK6 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23918663 "DO"] synonym: "MCPH12" EXACT [] xref: MIM:616080 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070285 name: primary autosomal recessive microcephaly 1 alt_id: MIM:251200 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the MCPH1 gene on chromosome 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12046007 "DO"] synonym: "MCPH1" EXACT [] synonym: "PCC syndrome" EXACT [] synonym: "premature chromosome condensation syndrome" EXACT [] synonym: "premature chromosome condensation with microcephaly and mental retardation" EXACT [] xref: MESH:C565384 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070286 name: primary autosomal recessive microcephaly 3 alt_id: MIM:604804 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5RAP2 gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15793586 "DO"] synonym: "CDK5RAP2-RELATED CONDITION" EXACT [] synonym: "MCPH3" EXACT [] synonym: "MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE" EXACT [] xref: MESH:C565746 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070287 name: primary autosomal recessive microcephaly 11 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the PHC1 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23418308 "DO"] synonym: "MCPH11" EXACT [] xref: MIM:615414 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070288 name: primary autosomal recessive microcephaly 17 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27453578 "DO"] synonym: "MCPH17" EXACT [] xref: MIM:617090 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070289 name: primary autosomal recessive microcephaly 16 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25259927 "DO"] synonym: "MCPH16" EXACT [] synonym: "Microcephaly 16, primary, autosomal recessive" EXACT [] xref: MIM:616681 xref: MONDO:0014730 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070290 name: primary autosomal recessive microcephaly 6 alt_id: MIM:608393 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CENPJ gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15793586 "DO"] synonym: "CENPJ-related disorder" BROAD [] synonym: "MCPH6" EXACT [] xref: MESH:C564247 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070291 name: primary autosomal recessive microcephaly 4 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the KNL1 gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22983954 "DO"] synonym: "MCPH4" EXACT [] xref: MESH:C565792 xref: MIM:604321 xref: MONDO:0011437 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070292 name: primary autosomal recessive microcephaly 9 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20598275 "DO"] synonym: "CEP152-RELATED CONDITION" BROAD [] synonym: "CEP152-related disorder" BROAD [] synonym: "CEP152-related disorders" BROAD [] synonym: "MCPH9" EXACT [] xref: MIM:614852 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070293 name: primary autosomal recessive microcephaly 2 with or without cortical malformations alt_id: MIM:604317 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20890279 "DO"] synonym: "MCPH2" EXACT [] synonym: "MICROCEPHALY, CORTICAL MALFORMATIONS, AND INTELLECTUAL DISABILITY" NARROW [] synonym: "primary autosomal recessive microcephaly 2" EXACT [] synonym: "primary microcephaly 2 with or without cortical malformations" EXACT [] synonym: "WDR62-RELATED CONDITION" EXACT [] xref: MESH:C565794 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070294 name: primary autosomal recessive microcephaly 10 def: "A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ZNF335 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23178126 "DO"] synonym: "MCPH10" EXACT [] xref: MIM:615095 is_a: DOID:0070296 ! primary autosomal recessive microcephaly [Term] id: DOID:0070295 name: primary autosomal dominant microcephaly 18 def: "A primary microcephaly that has_material_basis_in heterozygous mutation in the WDFY3 gene on chromosome 4q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27008544 "DO"] synonym: "MCPH18" EXACT [] synonym: "WDFY3-RELATED CONDITION" EXACT [] xref: MIM:617520 is_a: DOID:0070297 ! primary microcephaly is_a: DOID:14725 ! autosomal dominant microcephaly [Term] id: DOID:0070296 name: primary autosomal recessive microcephaly def: "A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has_material_basis_in an autosomal recessive mutation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15806441 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28912110 "DO"] synonym: "MCPH" EXACT [] synonym: "microcephalia vera" EXACT [] synonym: "microcephaly vera" EXACT [] synonym: "primary hereditary microcephaly" EXACT [] synonym: "true microcephaly" EXACT [] xref: GARD:12117 xref: MESH:C579935 xref: MIM:PS251200 xref: ORDO:2512 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070297 ! primary microcephaly [Term] id: DOID:0070297 name: primary microcephaly def: "A microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28912110 "DO"] is_a: DOID:10907 ! microcephaly [Term] id: DOID:0070298 name: multiple epiphyseal dysplasia 2 def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8528240 "DO"] synonym: "COL9A2-RELATED CONDITION" BROAD [] synonym: "COL9A2-related disorder" BROAD [] synonym: "EDM2" EXACT [] xref: MESH:C535502 xref: MIM:600204 xref: MONDO:0010844 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly [Term] id: DOID:0070299 name: multiple epiphyseal dysplasia 5 alt_id: MIM:607078 def: "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11479597 "DO"] synonym: "BHMED" EXACT [] synonym: "bilateral hereditary microepiphyseal dysplasia" EXACT [] synonym: "EDM5" EXACT [] synonym: "multiple epiphyseal dysplasia, MATN3-related" EXACT [] xref: GARD:9794 xref: MESH:C535505 xref: ORDO:93311 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070300 name: multiple epiphyseal dysplasia 4 def: "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10465113 "DO"] synonym: "autosomal recessive multiple epiphyseal dysplasia" EXACT [] synonym: "EDM4" EXACT [] synonym: "MED4" EXACT [] synonym: "multiple epiphyseal dysplasia with bilateral patellae" EXACT [] synonym: "Multiple epiphyseal dysplasia with bilayered patellae" EXACT [] synonym: "Multiple epiphyseal dysplasia with clubfoot" EXACT [] synonym: "Multiple epiphyseal dysplasia with double-layered patella" EXACT [] synonym: "polyepiphyseal dysplasia type 4" EXACT [] synonym: "rMED" EXACT [] xref: GARD:9793 xref: MESH:C535504 xref: MIM:226900 xref: ORDO:93307 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070301 name: multiple epiphyseal dysplasia 6 def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11565064 "DO"] synonym: "COL9A1-RELATED CONDITION" BROAD [] synonym: "COL9A1-RELATED DISORDER" BROAD [] synonym: "EDM6" EXACT [] xref: MIM:614135 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly [Term] id: DOID:0070302 name: multiple epiphyseal dysplasia 7 def: "A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28742282 "DO"] synonym: "EDM7" EXACT [] xref: MIM:617719 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070303 name: multiple epiphyseal dysplasia 1 alt_id: MIM:132400 def: "A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7670471 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7670472 "DO"] synonym: "EDM1" EXACT [] synonym: "EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE" NARROW [] synonym: "epiphyseal dysplasia, Ribbing type" NARROW [] synonym: "MED1" EXACT [] synonym: "multiple epiphyseal dysplasia 1, mild" NARROW [] synonym: "multiple epiphyseal dysplasia, cartilage oligomeric matrix protein related" EXACT [] synonym: "MULTIPLE EPIPHYSEAL DYSPLASIA, COMP-EPIPHYSEAL DYSPLASIA, FAIRBANK TYPE" NARROW [] synonym: "multiple epiphyseal dysplasia, COMP-related" EXACT [] synonym: "MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1" EXACT [] synonym: "polyepiphyseal dysplasia type 1" EXACT [] xref: GARD:2180 xref: MESH:C535501 xref: ORDO:93308 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070304 name: multiple epiphyseal dysplasia 3 alt_id: MIM:600969 def: "A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A3 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10090888 "DO"] synonym: "EDM3" EXACT [] synonym: "multiple epiphyseal dysplasia 3 with myopathy" NARROW [] synonym: "multiple epiphyseal dysplasia 3 with or without myopathy" EXACT [] xref: MESH:C535503 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070305 ! multiple epiphyseal dysplasia due to collagen 9 anomaly [Term] id: DOID:0070305 name: multiple epiphyseal dysplasia due to collagen 9 anomaly def: "A multiple epiphyseal dysplasia that has_material_basis_in mutation in any of the members of the COL9A gene family (COL9A1, COL9A2, COL9A3). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10090888 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11891674 "DO"] synonym: "COL9A2-related disorder" NARROW [] xref: ORDO:166002 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:0070306 name: post-cardiac arrest syndrome def: "A syndrome that is characterized by four main components: post-cardiac arrest brain injury, post-cardiac arrest myocardial dysfunction, systemic ischemia reperfusion response, and persistent precipitating pathologies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20395899 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=15365608 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=18963350 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=29055751 "DO"] synonym: "PCAS" EXACT [] synonym: "post cardiac syndrome" EXACT [] synonym: "postresuscitation disease" EXACT [] xref: MESH:D000080942 is_a: DOID:0060319 ! cardiac arrest is_a: DOID:225 ! syndrome [Term] id: DOID:0070307 name: craniolenticulosutural dysplasia alt_id: MIM:607812 def: "A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects. (DO)" [https://en.wikipedia.org/wiki/Cranio%E2%80%93lenticulo%E2%80%93sutural_dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=16980979 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=29161034 "DO"] synonym: "Boyadjiev-Jabs syndrome" EXACT [] synonym: "CLSD" EXACT [] synonym: "cranio-lenticulo-sutural dysplasia, CLSD" EXACT [] xref: MESH:C564332 xref: ORDO:50814 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0070308 name: rippling muscle disease 1 alt_id: MIM:600332 def: "A muscle tissue disease characterized by electrically silent contractions of the skeletal muscles in response to mechanical stimuli. It has_material_basis_in mutation in the gene localized to 1q41 at the distal end of the long arm of chromosome 1, has_symptom characteristic lateral rolling movement of muscle, has_symptom muscle cramps, has_symptom muscle pain, has_symptom muscle stiffness during or following exercise. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3697883/ "DO"] synonym: "RMD1" EXACT [] xref: MESH:C535686 is_a: DOID:66 ! muscle tissue disease [Term] id: DOID:0070309 name: absence epilepsy def: "An electroclinical syndrome characterized by the occurrence of generalized onset seizures that cause lapses in awareness, begin and end abruptly, typically last only a few seconds and are associated with abnormal spike-wave discharges as seen by electroencephalogram. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC3697883/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15800200 "DO"] synonym: "absence epilepsies" EXACT [] synonym: "absence seizure" EXACT [] synonym: "Absence Seizure Disorder" EXACT [] synonym: "Absence Seizure Disorders" EXACT [] synonym: "absence seizures" EXACT [] synonym: "GENERALIZED NON-MOTOR (ABSENCE) SEIZURE" EXACT [] is_a: DOID:0050701 ! electroclinical syndrome [Term] id: DOID:0070310 name: drug-induced hearing loss def: "A nonsyndromic deafness that is characterized by cochlear or vestibular dysfunction resulting in loss of hearing caused by drug ototoxicity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/?term=20301595 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=25629145 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=29471610 "DO"] synonym: "antidepressant-induced hearing impairment" NARROW [] synonym: "ototoxicity" EXACT [] xref: EFO:0006324 xref: EFO:0006951 xref: MESH:D000081015 is_a: DOID:0050563 ! nonsyndromic deafness [Term] id: DOID:0070311 name: oligoasthenoteratozoospermia def: "A form of male infertility that is characterized by a combination of low number or oligozoospermia, poor motility or asthenozoospermia, and abnormal shape or teratozoospermia of sperms. OAT is the most common cause of male subfertility. (DO)" [https://en.wiktionary.org/wiki/oligoasthenoteratozoospermia "DO", https://www.ncbi.nlm.nih.gov/pubmed/23628110 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25781171 "DO"] synonym: "OAT" EXACT [] synonym: "oligoasthenoteratospermia" EXACT [] synonym: "oligoasthenoteratozoospermias" EXACT [] is_a: DOID:14228 ! oligospermia is_a: DOID:9001513 ! Asthenozoospermia is_a: DOID:9002321 ! Teratozoospermia [Term] id: DOID:0070313 name: thiamine deficiency disease def: "A nutritional deficiency disease that is characterized by low levels of thiamine. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO"] synonym: "thiamine deficiencies" EXACT [] synonym: "thiamine deficiency" EXACT [] xref: EFO:0008569 xref: EFO:1000837 xref: MESH:D013832 xref: NCI:C34418 is_a: DOID:9002785 ! Vitamin B Deficiency [Term] id: DOID:0070314 name: obstructive nephropathy def: "A kidney disease characterized by kidney damage and dysfunction resulting from urinary tract obstruction. (DO)" [https://en.wikipedia.org/wiki/Obstructive_uropathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/24023768 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25402279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26667236 "DO"] synonym: "CON" EXACT [] synonym: "congenital obstructive nephropathy" EXACT [] xref: NCI:C120902 is_a: DOID:557 ! kidney disease [Term] id: DOID:0070315 name: hypoplastic right heart syndrome def: "A congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24932961 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28009100 "DO"] xref: GARD:2922 xref: ICD10CM:Q22.6 xref: NCI:C99053 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0070316 name: Miura type epiphyseal chondrodysplasia def: "A bone developmental disease characterized by tall stature, scoliosis and macrodactyly of the great toes that has_material_basis_in heterozygous mutation in the NPR2 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24057292 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24259409 "DO"] synonym: "ECDM" EXACT [] synonym: "Miura type of epiphyseal chondrodysplasia" EXACT [] synonym: "tall stature-scoliosis-macrodactyly of the great toes syndrome" EXACT [] synonym: "tall stature-scoliosis-macrodactyly of the halluces syndrome" EXACT [] xref: MIM:615923 xref: ORDO:329191 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080006 ! bone development disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0070317 name: wet beriberi def: "A beriberi that is located_in the cardiovascular system and has_symptom increased heart rate, swelling of lower legs, and shortness of breath. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO", https://medlineplus.gov/ency/article/000339.htm "DO", https://rarediseases.info.nih.gov/diseases/9948/beriberi "DO"] xref: ICD10CM:E51.12 is_a: DOID:13725 ! beriberi [Term] id: DOID:0070318 name: dry beriberi def: "A beriberi that is located_in the nervous system and has_symptom difficulty walking, numbness in extremities, tingling in extremities, paralysis of lower legs, difficulty speaking, confusion, and vomiting. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO", https://medlineplus.gov/ency/article/000339.htm "DO", https://rarediseases.info.nih.gov/diseases/9948/beriberi "DO"] xref: ICD10CM:E51.11 is_a: DOID:13725 ! beriberi [Term] id: DOID:0070319 name: miliaria pustulosa def: "A miliaria that is characterized by pustules resulting from inflammation and bacterial infection. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://en.wikipedia.org/wiki/Miliaria "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"] is_a: DOID:1382 ! miliaria [Term] id: DOID:0070320 name: miliaria profunda def: "A miliaria that is characterized by ductal occlusion of the papillary dermis causing the gland's secretions to leak between the superficial and deep layers of the skin resulting in a rapidly-spreading flesh-colored rash. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://en.wikipedia.org/wiki/Miliaria "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"] xref: ICD10CM:L74.2 xref: SNOMEDCT_US_2020_03_01:47317002 is_a: DOID:1382 ! miliaria [Term] id: DOID:0070321 name: miliaria crystallina def: "A miliaria that is characterized by clear, superficial, noninflammed, subcorneal vesicles that easily rupture when rubbed and is located_in the stratum corneum. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://en.wikipedia.org/wiki/Miliaria "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"] synonym: "sudamina" EXACT [] xref: ICD10CM:L74.1 is_a: DOID:1382 ! miliaria [Term] id: DOID:0070322 name: childhood hepatocellular carcinoma def: "A hepatocellular carcinoma that occurs in children and is characterized by a distinct etiological predisposition, biological behavior, and lower frequency of cirrhosis as compared to adult hepatocellular carcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17714939 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28144610 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30254403 "DO"] synonym: "pediatric hepatocellular carcinoma" EXACT [] xref: GARD:9331 xref: NCI:C7955 xref: ORDO:33402 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:0070323 name: childhood acute myeloid leukemia def: "A childhood leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. (DO)" [http://www.danafarberbostonchildrens.org/conditions/leukemia-and-lymphoma/acute-myelogenous-leukemia.aspx "DO", https://en.wikipedia.org/wiki/Acute_myeloid_leukemia "DO", https://www.cancer.gov/types/leukemia/patient/child-aml-treatment-pdq "DO"] synonym: "childhood acute myeloid leukaemia" EXACT [] synonym: "childhood acute myeloid leukemia with maturation" NARROW [] synonym: "EFO:0000330" EXACT [] synonym: "paediatric acute myeloid leukaemia" EXACT [] synonym: "pediatric acute myeloid leukemia" EXACT [] xref: EFO:0000330 xref: EFO:1001945 xref: ICD-O:M9861/3 xref: NCI:C9160 is_a: DOID:7757 ! childhood leukemia is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:0070324 name: systemic Epstein-Barr virus positive T-cell lymphoma of childhood def: "A childhood lymphoma that is characterized by monoclonal expansion of Epstein-Barr virus-positive T cells with an activated cytotoxic phenotype in tissues or peripheral blood. (DO)" [https://en.wikipedia.org/wiki/Epstein-Barr_virus-associated_lymphoproliferative_diseases "DO", https://www.ncbi.nlm.nih.gov/pubmed/30931288 "DO"] synonym: "EBV-positive T-cell lymphoproliferative disorder of childhood" EXACT [] synonym: "systemic EBV-positive T-cell lymphoma of childhood" EXACT [] xref: EFO:1000228 xref: ICDO:9724/3 xref: ICD-O:M9724/3 xref: NCI:C80374 xref: ORDO:364033 is_a: DOID:5823 ! childhood lymphoma [Term] id: DOID:0070325 name: malignant childhood adrenal gland pheochromocytoma def: "An adrenal gland pheochromocytoma that is characterized by rare chromaffin cell tumors which secrete catecholamines, and has a higher prevalence of hereditary factors and metastatis in children than adults. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28324046 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28752085 "DO"] synonym: "malignant pediatric adrenal gland pheochromocytoma" EXACT [] xref: GARD:9368 xref: ICD-O:M8700/3 xref: NCI:C118822 is_a: DOID:0050892 ! adrenal gland pheochromocytoma [Term] id: DOID:0070326 name: spitzoid melanoma def: "A skin melanoma that is characterized by asymmetric shape, diameter greater than 1 cm, a lesion with a deep invasive component, and a high degree of cytologic atypia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377413/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25666674 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25834363 "DO"] synonym: "atypical spitz nevus" EXACT [] xref: NCI:C136825 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:0070327 name: melanoma in congenital melanocytic nevus def: "A skin melanoma that arises from a congenital melanocytic nevus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27517357 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28078671 "DO"] synonym: "malignant melanoma in congenital melanocytic nevus" EXACT [] xref: GARD:2469 xref: ICDO:8761/3 xref: ICD-O:M8761/3 xref: NCI:C48613 is_a: DOID:8923 ! skin melanoma [Term] id: DOID:0070328 name: adult hepatocellular carcinoma def: "A hepatocellular carcinoma that is characterized by hepatic mass, abdominal pain and, in advanced stages, jaundice, cachexia and liver failure and often develops in the setting of chronic necro-inflammation. (DO)" [https://www.cancer.gov/types/liver/patient/about-adult-liver-cancer-pdq "DO", https://www.ncbi.nlm.nih.gov/pubmed/25979220 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28761617 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30254403 "DO"] synonym: "adult hepatoma" EXACT [] synonym: "adult liver cell carcinoma" EXACT [] synonym: "adult primary hepatocellular carcinoma" EXACT [] synonym: "NCI:C7956" EXACT [] xref: ORDO:210159 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:0070329 name: mitochondrial DNA depletion syndrome def: "A mitochondrial metabolism disease that is characterized by significant reduction in mitochondrial DNA in affected tissues, resulting in impaired mtDNA-encoded protein synthesis and energy production in the affected tissues and organs. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29344903 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29950321 "DO"] synonym: "mitochondrial DNA depletion syndromes" EXACT [] synonym: "mtDNA depletion syndrome" EXACT [] xref: GARD:13643 xref: MIM:PS603041 xref: ORDO:35698 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0070330 name: multiple mitochondrial dysfunctions syndrome def: "A mitochondrial metabolism disease that is characterized by reduced function of more than one stage of energy production resulting from mitochondria impairment. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/24462711 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28161430 "DO"] synonym: "fatal multiple mitochondrial dysfunctions syndrome" EXACT [] synonym: "fatal multiple mitochondrial dysfunction syndrome" EXACT [] synonym: "MMDS" EXACT [] synonym: "multiple mitochondrial dysfunctions syndromes" EXACT [] xref: GARD:12632 xref: MESH:C565304 xref: MIM:PS605711 xref: ORDO:289573 is_a: DOID:225 ! syndrome is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0070331 name: mitochondrial DNA depletion syndrome 8b alt_id: MESH:C536350 alt_id: MIM:277320 def: "A mitochondrial DNA depletion syndrome that is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype, and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ribonucleotide reductase M2 B gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30373120 "DO"] synonym: "familial visceral myopathy, external ophthalmoplegia" EXACT [] synonym: "familial visceral myopathy, with external ophthalmoplegia" EXACT [] synonym: "intestinal pseudoobstruction with external ophthalmoplegia" EXACT [] synonym: "mitochondrial DNA depletion syndrome 8B (MNGIE type)" NARROW [] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, RRM2B-related" NARROW [] synonym: "MTDPS8B" NARROW [] synonym: "oculogastrointestinal muscular dystrophy" EXACT [] xref: MIM:612075 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11719 ! oculopharyngeal muscular dystrophy is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type is_a: DOID:9002025 ! Familial Visceral Myopathy [Term] id: DOID:0070332 name: multiple mitochondrial dysfunctions syndrome 6 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by hypotonia, inability to walk, poor speech, intellectual disability, and motor abnormalities, such as ataxia, dystonia, and spasticity with onset in early childhood and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the PMPCB gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29576218 "DO"] synonym: "MMDS6" EXACT [] synonym: "PMPCB-RELATED MITOCHONDRIAL DISORDER" EXACT [] xref: MIM:617954 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0070333 name: breast implant-associated anaplastic large cell lymphoma def: "A peripheral T-cell lymphoma characterized by development around textured-surface breast implants confined to the capsule. (DO)" [https://www.fda.gov/medical-devices/breast-implants/questions-and-answers-about-breast-implant-associated-anaplastic-large-cell-lymphoma-bia-alcl "DO", https://www.ncbi.nlm.nih.gov/pubmed/31166611 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31642879 "DO"] is_a: DOID:0050749 ! peripheral T-cell lymphoma [Term] id: DOID:0070334 name: vegetable allergy def: "A food allergy triggered by a vegetable food product. (DO)" [https://farrp.unl.edu/informallvegetables "DO"] is_a: DOID:3044 ! food allergy created_by: mtutaj creation_date: 2019-06-25T14:19:37Z [Term] id: DOID:0070335 name: celery allergy def: "A vegetable allergy triggered by celery (Apium graveolens). (DO)" [https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?lvl=0&id=4045 "DO"] is_a: DOID:0070334 ! vegetable allergy [Term] id: DOID:0070336 name: arthrogryposis multiplex congenita-6 alt_id: DOID:9004972 def: "An arthrogryposis multiplex congenita characterized by congenital joint contractures, dysmorphic facial features, distal skeletal anomalies with clenched hands and clubfeet, and edema with fetal hydrops and that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33376055/ "DO"] synonym: "AMC6" EXACT [] xref: MIM:619334 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: mtutaj creation_date: 2022-08-29T12:47:32Z [Term] id: DOID:0070337 name: epithelial recurrent erosion dystrophy alt_id: MIM:122400 def: "An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. (DO)" [https://www.omim.org/entry/122400 "DO"] synonym: "COL17A1" EXACT [] synonym: "COL17A1-RELATED CONDITION" BROAD [] synonym: "ERED" EXACT [] synonym: "recurring hereditary corneal erosions" EXACT [] xref: MESH:C565155 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060440 ! epithelial and subepithelial dystrophy [Term] id: DOID:0070338 name: cerebellar hypoplasia def: "A cerebellar disease that is characterized by a cerebellum that is smaller than usual or not completely developed. (DO)" [https://en.wikipedia.org/wiki/Cerebellar_hypoplasia "DO", https://www.ninds.nih.gov/health-information/disorders/cerebellar-hypoplasia "DO"] synonym: "congenital cerebellar hypoplasia" EXACT [] xref: GARD:1194 xref: MESH:C562568 xref: NCI:C98890 is_a: DOID:2786 ! cerebellar disease is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9008086 ! Developmental Disabilities created_by: rgd creation_date: 2016-08-09T00:00:00Z [Term] id: DOID:0070339 name: cerebellar hyplasia/atrophy, epilepsy, and global developmental delay alt_id: MIM:213000 def: "A syndrome with a cerebellar malformation as a major feature characterized by cerebellar hypoplasia, bilateral retinal pigmentary changes, intellectual disability that can range from mild to moderate and pronounced language development delay. It presents with early developmental delay, central and peripheral non-progressive visual impairment or asymptomatic retinal changes, hypotonia, non-progressive ataxia and nystagmus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31785787/ "DO"] xref: ORDO:2246 is_a: DOID:0070338 ! cerebellar hypoplasia is_a: DOID:225 ! syndrome [Term] id: DOID:0070340 name: classic citrullinemia alt_id: MIM:215700 def: "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ASS1 gene, which encodes argininosuccinate synthetase, on chromosome 9q34. (DO)" [https://www.omim.org/entry/215700 "DO"] synonym: "argininosuccinate synthase deficiency disease" EXACT [] synonym: "argininosuccinate synthetase deficiencies" EXACT [] synonym: "Argininosuccinate Synthetase Deficiency" EXACT [] synonym: "ASS deficiencies" EXACT [] synonym: "ASS Deficiency" EXACT [] synonym: "Citrullinemia 1" EXACT [] synonym: "citrullinemia type 1" EXACT [] synonym: "citrullinemia type I" EXACT [] synonym: "classical citrullinemia" EXACT [] synonym: "classical citrullinemias" EXACT [] synonym: "classic citrullinemias" EXACT [] synonym: "CTLN1" EXACT [] synonym: "CTNL1" EXACT [] xref: MESH:C538444 xref: NCI:C150601 xref: ORDO:247525 is_a: DOID:9273 ! citrullinemia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0070341 name: neonatal-onset type II citrullinemia alt_id: MIM:605814 def: "A citrullinemia that is characterized by confusion, restlessness, memory loss, abnormal behaviors (such as aggression, irritability, and hyperactivity), seizures and coma, caused by citrin deficiency (NICCD), and has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene. (DO)" [https://www.omim.org/entry/605814 "DO"] synonym: "neonatal citrullinemia" EXACT [] synonym: "neonatal citrullinemias" EXACT [] synonym: "neonatal intrahepatic cholestasis caused by citrin deficiency" EXACT [] synonym: "neonatal-onset citrullinemia type 2" EXACT [] synonym: "neonatal-onset citrullinemia type II, with or without failure to thrive and dyslipidemia" EXACT [] synonym: "NICCD" EXACT [] synonym: "SLC25A13-RELATED CONDITION" BROAD [] xref: MESH:C536398 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009138 ! Citrullinemia Type 2 [Term] id: DOID:0070342 name: adult-onset type II citrullinemia alt_id: MIM:603471 def: "A citrullinemia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A13 gene on chromosome 7q21. (DO)" [https://www.omim.org/entry/603471?search=603471 "DO"] synonym: "Adult-Onset Citrullinemia Type 2" EXACT [] synonym: "Citrin deficiency" EXACT [] synonym: "CTLN2" EXACT [] synonym: "Late-Onset Citrullinemia" EXACT [] synonym: "Late-Onset Citrullinemias" EXACT [] synonym: "SLC25A13-RELATED CONDITION" BROAD [] xref: MESH:C538053 is_a: DOID:9009138 ! Citrullinemia Type 2 [Term] id: DOID:0070343 name: CSF1R-related brain malformation and osteopetrosis def: "A neuroaxonal dystrophy that has_material_basis_in heterozygous mutations in CSF1R and causes adult-onset leukoencephalopathy with axonal spheroids and pigmented glia, characterized by progressive cognitive and motor impairment and seizures in the fourth to fifth decade of life. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC6506793/ "DO"] synonym: "osteoporosis and infantile neuroaxonal dystrophy" EXACT [] xref: MIM:600329 is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:0070344 name: ocular tuberculosis def: "A tuberculosis that is located_in some eye, has_material_basis_in Mycobacterium tuberculosis, and has_symptom inflamed eyes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4664543/ "DO"] synonym: "ocular tuberculoses" EXACT [] xref: EFO:1001070 xref: MESH:D014392 is_a: DOID:399 ! tuberculosis is_a: DOID:9005473 ! Bacterial Eye Infections [Term] id: DOID:0070345 name: vertebral anomalies and variable endocrine and T-cell dysfunction def: "A syndrome that has_material_basis_in heterozygous mutation in the TBX2 gene on chromosome 17q23 and is characterized by craniofacial dysmorphisms, cardiac anomalies, skeletal malformations, immune deficiency, endocrine abnormalities and developmental impairments. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29726930 "DO"] synonym: "heterozygotes for TBX2 variants" EXACT [] synonym: "TBX2-related condition" BROAD [] synonym: "VETD" EXACT [] xref: MIM:618223 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2018-09-11T14:55:29Z [Term] id: DOID:0070346 name: neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies def: "A syndrome that is characterized by impaired intellectual development with absent language and short stature and that has_material_basis_in homozygous mutation in the INTS1 gene on chromosome 7p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/618571 "DO"] synonym: "NDCAGF" EXACT [] xref: EFO:0010561 xref: MIM:618571 is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006257 ! Growth Disorders created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:0070347 name: encephalopathy due to defective mitochondrial and peroxisomal fission 1 def: "A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30850373 "DO"] synonym: "DNM1L-RELATED DISORDERS" BROAD [] synonym: "EMPF" EXACT [] synonym: "EMPF1" EXACT [] synonym: "lethal encephalopathy due to defective mitochondrial and peroxisomal fission" EXACT [] synonym: "lethal encephalopathy due to defective mitochondrial and peroxisomal fission 1" EXACT [] xref: MIM:614388 is_a: DOID:225 ! syndrome is_a: DOID:9009111 ! Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission [Term] id: DOID:0070348 name: spinal muscular atrophy with lower extremity predominant def: "A spinal muscular atrophy that has_material_basis_in autosomal dominant inheritance and is characterized by muscle weakness and wasting in the lower limbs, most affecting the thigh muscles. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-lower-extremity-predominance "DO"] synonym: "SPINAL MUSCULAR ATROPHY WITH LOWER EXTREMITY PREDOMINANCE" EXACT [] synonym: "spinal muscular atrophy with predominant lower extremity" EXACT [] xref: MIM:PS158600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0070349 name: spinal muscular atrophy with lower extremity predominant 2A def: "A spinal muscular atrophy with lower extremity predominance that is characterized by early childhood onset of muscle weakness and atrophy predominantly affecting the proximal and distal muscles of the lower extremity, although some patients may show upper extremity involvement and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23664120/ "DO"] synonym: "GOWER'S MUSCULAR DYSTROPHY" EXACT [] synonym: "SMALED2A" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, AD" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2A, childhood onset, autosomal dominant" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant 2, autosomal dominant" BROAD [] synonym: "spinal muscular atrophy with lower extremity predominance 2A" EXACT [] synonym: "spinal muscular atrophy with predominant lower extremity 2A" EXACT [] xref: MIM:615290 xref: NCI:C191766 is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant [Term] id: DOID:0070350 name: spinal muscular atrophy with lower extremity predominant 2B alt_id: DOID:9002187 def: "A spinal muscular atrophy with lower extremity predominance that is characterized by decreased fetal movements and are congenital contractures consistent with arthrogryposis multiplex congenita and that has_material_basis_in heterozygous mutation in the BICD2 gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28635954/ "DO"] synonym: "SMALED2B" EXACT [] synonym: "SPINAL MUSCULAR ATROPHY, LOWER EXTREMITY PREDOMINANT 2, AUTOSOMAL DOMINANT" BROAD [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant" EXACT [] synonym: "spinal muscular atrophy, lower extremity-predominant, 2B, prenatal onset, autosomal dominant" EXACT [] synonym: "spinal muscular atrophy with lower extremity predominance 2B" EXACT [] synonym: "spinal muscular atrophy with predominant lower extremity 2B" EXACT [] xref: EFO:0010264 xref: MIM:618291 xref: MONDO:0032660 is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant [Term] id: DOID:0070351 name: spinal muscular atrophy with lower extremity predominant 1 def: "A spinal muscular atrophy with lower extremity predominance that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20697106/ "DO"] synonym: "Kugelberg-Welander syndrome, autosomal dominant" EXACT [] synonym: "lower extremity-predominant spinal muscular atrophy 1, autosomal dominant" EXACT [] synonym: "proximal juvenile spinal muscular atrophy, autosomal dominant" EXACT [] synonym: "SMA-LED" EXACT [] synonym: "SMALED1" EXACT [] synonym: "Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant" EXACT [] synonym: "spinal muscular atrophy with lower extremity predominance 1" EXACT [] synonym: "spinal muscular atrophy with predominant lower extremity 1" EXACT [] xref: MESH:C563560 xref: MIM:158600 xref: MONDO:0008026 xref: NCI:C191765 is_a: DOID:0070348 ! spinal muscular atrophy with lower extremity predominant [Term] id: DOID:0070352 name: stress-induced childhood-onset neurodegeneration with variable ataxia and seizures def: "A neurodegenerative disease characterized by variable ataxia and seizures, has_material_basis_in homozygous mutation in the ADPRHL2 gene on chromosome 1p34, and has_symptom seizures, muscle weakness, giat ataxia, impaired speech, hearing loss, and cerebellar atrophy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30100084 "DO", https://www.omim.org/entry/618170 "DO"] synonym: "CONDSIAS" EXACT [] synonym: "NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES" EXACT [] xref: MIM:618170 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:1826 ! epilepsy is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0070353 name: cataract 47 alt_id: MIM:612018 def: "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea. (DO)" [https://www.omim.org/entry/612018 "DO"] synonym: "CJMG" EXACT [] synonym: "CTRCT47" EXACT [] synonym: "juvenile cataract with microcornea" EXACT [] synonym: "juvenile cataract with microcornea and glucosuria" EXACT [] xref: MESH:C567434 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract is_a: DOID:9432 ! renal glycosuria [Term] id: DOID:0070354 name: cataract 48 alt_id: DOID:9001214 def: "A cataract that has_material_basis_in homozygous mutation in the DNMBP gene on chromosome 10q24 and is characterized by infantile or early-childhood cataracts and visual impairment. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30290152 "DO", https://www.omim.org/entry/618415 "DO"] synonym: "CTRCT48" EXACT [] xref: MIM:618415 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0070355 name: overactive bladder syndrome alt_id: DOID:9004837 def: "A bladder disease characterized by urinary urgency without urinary tract infection or obvious pathology, usually accompanied by urinary frequency and nocturia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11857671/ "DO", https://pubmed.ncbi.nlm.nih.gov/19937315/ "DO"] synonym: "OAB" EXACT [] synonym: "Overactive Bladder" EXACT [] synonym: "Overactive Detrusor" EXACT [] synonym: "Overactive Detrusor Function" EXACT [] synonym: "Overactive Urinary Bladder" EXACT [] synonym: "urgency-frequency syndrome" EXACT [] synonym: "urge syndrome" EXACT [] xref: EFO:1000781 xref: ICD10CM:N32.81 xref: ICD9CM:596.51 xref: MESH:D053201 is_a: DOID:225 ! syndrome is_a: DOID:365 ! bladder disease is_a: DOID:9003962 ! Lower Urinary Tract Symptoms created_by: mtutaj creation_date: 2022-11-30T19:03:07Z [Term] id: DOID:0070356 name: visual impairment and progressive phthisis bulbi def: "An eye disease that is characterized by poor vision at birth, with development of bilateral phthisis by adulthood and that has_material_basis_in homozygous mutation in the MARK3 gene on chromosome 14q3. (DO)" [https://en.wikipedia.org/wiki/Phthisis_bulbi "DO", https://www.ncbi.nlm.nih.gov/pubmed/29771303 "DO", https://www.uniprot.org/diseases/DI-05463 "DO"] synonym: "VIPB" EXACT [] xref: MIM:618283 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1432 ! blindness [Term] id: DOID:0070357 name: nephrotic syndrome type 20 def: "A familial nephrotic syndrome that has_material_basis_in X-linked renal disorder characterized by onset of steroid-resistant nephrotic syndrome and proteinuria in the first years of life in affected males. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31732614 "DO", https://www.omim.org/entry/301028 "DO"] synonym: "NPHS20" EXACT [] xref: MIM:301028 xref: MONDO:0026726 is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0070358 name: primary biliary cholangitis 1 alt_id: DOID:9006007 def: "A primary biliary cholangitis that has_material_basis_in variation at the IL12A locus on chromosome 3q25.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19458352/ "DO"] synonym: "PBC1" EXACT [] synonym: "Primary Biliary Cirrhosis 1" EXACT [] xref: MIM:109720 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:45:25Z [Term] id: DOID:0070359 name: primary biliary cholangitis 2 alt_id: DOID:9001188 alt_id: MIM:613007 def: "A primary biliary cholangitis that has_material_basis_in variation at the HLA-DQB1 locus on chromosome 6p21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19458352/ "DO"] synonym: "PBC2" EXACT [] synonym: "Primary Biliary Cirrhosis 2" EXACT [] xref: MESH:C567817 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:50:00Z [Term] id: DOID:0070360 name: primary biliary cholangitis 3 alt_id: DOID:9000199 alt_id: MIM:613008 def: "A primary biliary cholangitis that has_material_basis_in variation at the IL12RB2 locus on chromosome 1p31.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19458352/ "DO"] synonym: "IL12RB2-RELATED CONDITION" EXACT [] synonym: "PBC3" EXACT [] synonym: "Primary Biliary Cirrhosis 3" EXACT [] xref: MESH:C567816 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:50:12Z [Term] id: DOID:0070361 name: primary biliary cholangitis 4 alt_id: DOID:9007947 def: "A primary biliary cholangitis that has_material_basis_in variation near the IRF5-TNPO3 locus on chromosome 7q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20639879/ "DO"] synonym: "PBC4" EXACT [] synonym: "Primary Biliary Cirrhosis 4" EXACT [] xref: MIM:614220 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:50:24Z [Term] id: DOID:0070362 name: primary biliary cholangitis 5 alt_id: DOID:9006752 def: "A primary biliary cholangitis that has_material_basis_in variation at the ZPBP2 locus on chromosome 17q12-q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20639879/ "DO"] synonym: "PBC5" EXACT [] synonym: "Primary Biliary Cirrhosis 5" EXACT [] xref: MIM:614221 is_a: DOID:12236 ! primary biliary cholangitis created_by: mtutaj creation_date: 2022-07-27T16:50:36Z [Term] id: DOID:0070363 name: bradyopsia 1 alt_id: DOID:9000878 def: "A braydopsia that has_material_basis_in homozygous or compound heterozygous mutation in the RGS9 gene on chromosome 17q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19818506/ "DO", https://www.omim.org/entry/608415 "DO"] synonym: "PERRS1" EXACT [] synonym: "prolonged electroretinal response suppression 1" EXACT [] xref: MIM:608415 is_a: DOID:0050335 ! bradyopsia created_by: mtutaj creation_date: 2023-05-31T12:16:10Z [Term] id: DOID:0070364 name: bradyopsia 2 alt_id: DOID:9003661 def: "A braydopsia that has_material_basis_in homozygous mutation in the RGS9BP gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19818506/ "DO", https://www.omim.org/entry/620344 "DO"] synonym: "PERRS2" EXACT [] synonym: "prolonged electroretinal response suppression-2" EXACT [] xref: MIM:620344 is_a: DOID:0050335 ! bradyopsia created_by: mtutaj creation_date: 2023-05-31T12:18:09Z [Term] id: DOID:0070365 name: nevoid basal cell carcinoma syndrome 1 alt_id: DOID:9005987 def: "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8658145/ "DO", https://www.omim.org/entry/109400 "DO"] synonym: "basal cell nevus syndrome 1" EXACT [] synonym: "BCNS1" EXACT [] xref: MIM:109400 xref: MONDO:0958174 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome created_by: mtutaj creation_date: 2023-05-31T12:19:53Z [Term] id: DOID:0070366 name: nevoid basal cell carcinoma syndrome 2 alt_id: DOID:9006702 def: "A nevoid basal cell carcinoma syndrome that has_material_basis_in heterozygous mutation in the SUFU gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19533801/ "DO", https://www.omim.org/entry/620343 "DO"] synonym: "basal cell nevus syndrome 2" EXACT [] synonym: "BCNS2" EXACT [] synonym: "NBCCS2" EXACT [] xref: MIM:620343 is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome created_by: mtutaj creation_date: 2023-05-31T12:24:43Z [Term] id: DOID:0070367 name: leukoencephalopathy with vanishing white matter 5 alt_id: DOID:9005314 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12325082/ "DO", https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/620315 "DO"] synonym: "CLE" EXACT [] synonym: "Cree leukoencephalopathy" EXACT [] synonym: "EIF2B5-RELATED CONDITION" EXACT [] synonym: "VWM5" EXACT [] xref: MIM:620315 xref: ORDO:99854 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:28:07Z [Term] id: DOID:0070368 name: autosomal recessive chronic granulomatous disease 5 alt_id: DOID:9004089 def: "A chronic granulomatous disease characterized by autosomal recessive inheritance that has_material_basis_in mutation in the CYBC1 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30312704/ "DO", https://pubmed.ncbi.nlm.nih.gov/30361506/ "DO"] synonym: "CGD5" EXACT [] synonym: "chronic granulomatous disease due to CYBC1 deficiency" EXACT [] xref: MIM:618935 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3265 ! chronic granulomatous disease created_by: mtutaj creation_date: 2023-03-31T15:44:55Z [Term] id: DOID:0070369 name: restrictive dermopathy 1 def: "A restrictive dermopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15317753 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101687 "DO"] synonym: "lethal restrictive dermopathy 1" EXACT [] synonym: "RSDM1" EXACT [] synonym: "ZMPSTE24-related disorder" BROAD [] xref: MIM:275210 xref: MONDO:0800042 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060762 ! restrictive dermopathy created_by: mtutaj creation_date: 2023-03-31T15:46:56Z [Term] id: DOID:0070370 name: restrictive dermopathy 2 def: "A restrictive dermopathy that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15317753/ "DO"] synonym: "lethal restrictive dermopathy 2" EXACT [] synonym: "RSDM2" EXACT [] xref: MIM:619793 is_a: DOID:0060762 ! restrictive dermopathy created_by: mtutaj creation_date: 2023-03-31T15:47:09Z [Term] id: DOID:0070371 name: leukoencephalopathy with vanishing white matter 4 alt_id: DOID:9000160 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/620314 "DO"] synonym: "leukoencephalopathy with vanishing white matter 4, with or without ovarian failure" EXACT [] synonym: "VWM4" EXACT [] xref: MIM:620314 xref: MONDO:0957872 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:31:42Z [Term] id: DOID:0070372 name: leukoencephalopathy with vanishing white matter 3 alt_id: DOID:9008859 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/620313 "DO"] synonym: "VWM3" EXACT [] xref: MIM:620313 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:33:34Z [Term] id: DOID:0070373 name: leukoencephalopathy with vanishing white matter 2 alt_id: DOID:9002009 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B2 gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/620312 "DO"] synonym: "VWM2" EXACT [] xref: MIM:620312 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:36:14Z [Term] id: DOID:0070374 name: leukoencephalopathy with vanishing white matter 1 alt_id: DOID:9005348 def: "A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34745209/ "DO", https://www.omim.org/entry/603896 "DO"] synonym: "VWM1" EXACT [] xref: MIM:603896 is_a: DOID:0060868 ! leukoencephalopathy with vanishing white matter created_by: mtutaj creation_date: 2023-05-31T12:38:06Z [Term] id: DOID:0070375 name: developmental and epileptic encephalopathy 64 alt_id: DOID:9009181 def: "A developmental and epileptic encephalopathy characterized by infantile onset of seizures, severe intellectual disabilities, impaired motor functions, movement disorders, and postnatal microcephaly that has_material_basis_in heterozygous mutation in the RHOBTB2 gene on chromosome 8p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29276004/ "DO", https://pubmed.ncbi.nlm.nih.gov/29768694/ "DO", https://pubmed.ncbi.nlm.nih.gov/33504645/ "DO", https://pubmed.ncbi.nlm.nih.gov/37090824/ "DO"] synonym: "DEE64" EXACT [] synonym: "early infantile epileptic encephalopathy 64" EXACT [] synonym: "EIEE64" EXACT [] synonym: "RHOBTB2-RELATED CONDITION" EXACT [] xref: MIM:618004 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T12:40:27Z [Term] id: DOID:0070376 name: developmental and epileptic encephalopathy 31B def: "A developmental and epileptic encephalopathy characterized by early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay that has_material_basis_in homozygous mutation in the DNM1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34172529/ "DO"] synonym: "DEE31B" EXACT [] synonym: "developmental and epileptic encephalopathy 31B, autosomal recessive" EXACT [] xref: MIM:620352 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T12:55:23Z [Term] id: DOID:0070377 name: developmental and epileptic encephalopathy 96 alt_id: DOID:9000688 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first days or weeks of life that has_material_basis_in heterozygous mutation in the NSF gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31675180/ "DO"] synonym: "DEE96" EXACT [] xref: MIM:619340 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:07:24Z [Term] id: DOID:0070378 name: developmental and epileptic encephalopathy 109 alt_id: DOID:9006979 def: "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first months or years of life that has_material_basis_in heterozygous mutation in the FZR1 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34788397/ "DO"] synonym: "DEE109" EXACT [] xref: MIM:620145 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:12:10Z [Term] id: DOID:0070379 name: developmental and epileptic encephalopathy 6B alt_id: DOID:9008265 def: "A developmental and epileptic encephalopathy characterized by early-infantile seizure onset, profoundly impaired intellectual development, and a hyperkinetic movement disorder that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. This disease has the same genetic basis as Dravet syndrome (DOID:0080422) but is more severe. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28794249/ "DO"] synonym: "DEE6B" EXACT [] synonym: "developmental and epileptic encephalopathy 6B, non-Dravet" EXACT [] xref: MIM:619317 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:13:59Z [Term] id: DOID:0070380 name: developmental and epileptic encephalopathy 85 alt_id: DOID:9008619 def: "A developmental and epileptic encephalopathy characterized by onset of severe refractory seizures in the first year of life, global developmental delay with impaired intellectual development and poor or absent speech, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the SMC1A gene on chromosome Xp11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28166369/ "DO", https://pubmed.ncbi.nlm.nih.gov/31334757/ "DO"] synonym: "DEE85" EXACT [] synonym: "developmental and epileptic encephalopathy-85 with or without midline brain defects" EXACT [] synonym: "early infantile epileptic encephalopathy 85" EXACT [] synonym: "early infantile epileptic encephalopathy 85, with or without midline brain defects" EXACT [] synonym: "EIEE85" EXACT [] synonym: "SMC1A-RELATED COHESINOPATHY" BROAD [] xref: MIM:301044 xref: NCI:C202548 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:15:46Z [Term] id: DOID:0070381 name: developmental and epileptic encephalopathy 90 alt_id: DOID:9000663 def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first days or months of life that has_material_basis_in hemizygous or heterozygous mutation in the FGF13 gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33245860/ "DO"] synonym: "DEE90" EXACT [] xref: MIM:301058 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:17:21Z [Term] id: DOID:0070382 name: developmental and epileptic encephalopathy 95 alt_id: DOID:9004284 def: "A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30269814/ "DO"] synonym: "DEE95" EXACT [] synonym: "early infantile epileptic encephalopathy 95" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 18" EXACT [] synonym: "GPIBD18" EXACT [] synonym: "GPI biosynthesis defect-18" EXACT [] xref: MIM:618143 xref: MONDO:0029140 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2023-05-31T13:19:37Z [Term] id: DOID:0070383 name: developmental and epileptic encephalopathy 97 alt_id: DOID:9000553 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the CELF2 gene on chromosome 10p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33131106/ "DO"] synonym: "DEE97" EXACT [] synonym: "early infantile epileptic encephalopathy 97" EXACT [] xref: MIM:619561 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:21:41Z [Term] id: DOID:0070384 name: developmental and epileptic encephalopathy 98 alt_id: DOID:9001342 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first decade associated with variable global developmental delay that has_material_basis_in heterozygous mutation in the ATP1A2 gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33880529/ "DO"] synonym: "DEE98" EXACT [] synonym: "early infantile epileptic encephalopathy 98" EXACT [] xref: MIM:619605 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:23:31Z [Term] id: DOID:0070385 name: developmental and epileptic encephalopathy 99 alt_id: DOID:9001126 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33880529/ "DO"] synonym: "DEE99" EXACT [] synonym: "early infantile epileptic encephalopathy 99" EXACT [] xref: MIM:619606 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:27:09Z [Term] id: DOID:0070386 name: developmental and epileptic encephalopathy 100 alt_id: DOID:9003577 def: "A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33280099/ "DO"] synonym: "DEE100" EXACT [] synonym: "early infantile epileptic encephalopathy 100" EXACT [] xref: MIM:619777 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:31:06Z [Term] id: DOID:0070387 name: developmental and epileptic encephalopathy 101 alt_id: DOID:9003569 def: "A developmental and epileptic encephalopathy characterized by early infantile epileptic encephalopathy and severe global developmental delay that has_material_basis_in homozygous mutation in the GRIN1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34611970/ "DO"] synonym: "DEE101" EXACT [] synonym: "early infantile epileptic encephalopathy 101" EXACT [] xref: MIM:619814 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:34:10Z [Term] id: DOID:0070388 name: developmental and epileptic encephalopathy 102 alt_id: DOID:9004423 def: "A developmental and epileptic encephalopathy characterized by global developmental delay and severe to profoundly impaired intellectual development with inability to walk or speak that has_material_basis_in homozygous or compound heterozygous mutations in the SLC38A3 gene on chromosome 3p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34605855/ "DO"] synonym: "DEE102" EXACT [] synonym: "early infantile epileptic encephalopathy 102" EXACT [] xref: MIM:619881 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:44:27Z [Term] id: DOID:0070389 name: developmental and epileptic encephalopathy 103 alt_id: DOID:9005278 def: "A developmental and epileptic encephalopathy characterized by onset of various types of seizures in the first year of life that has_material_basis_in heterozygous mutation in the KCNC2 gene on chromosome 12q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35314505/ "DO"] synonym: "DEE103" EXACT [] synonym: "early infantile epileptic encephalopathy 103" EXACT [] synonym: "KCNC2-related condition" BROAD [] xref: MIM:619913 xref: MONDO:0030957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:46:18Z [Term] id: DOID:0070390 name: developmental and epileptic encephalopathy 104 alt_id: DOID:9001426 def: "A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34909687/ "DO"] synonym: "DEE104" EXACT [] synonym: "early infantile epileptic encephalopathy 104" EXACT [] xref: MIM:619970 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:47:54Z [Term] id: DOID:0070391 name: developmental and epileptic encephalopathy 105 alt_id: DOID:9002700 def: "A developmental and epileptic encephalopathy characterized by onset of seizures and pituitary insufficiency in the first weeks or months of life with profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the HID1 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33999436/ "DO"] synonym: "DEE105" EXACT [] synonym: "Developmental and Epileptic Encephalopathy 105 with Hypopituitarism" EXACT [] synonym: "early infantile epileptic encephalopathy 105" EXACT [] xref: MIM:619983 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9406 ! hypopituitarism created_by: mtutaj creation_date: 2023-05-31T13:49:30Z [Term] id: DOID:0070392 name: developmental and epileptic encephalopathy 106 alt_id: DOID:9003512 def: "A developmental and epileptic encephalopathy characterized by onset of various types of frequent seizures within the first year of life and profound global developmental delay with limited ability to move and absent speech that has_material_basis_in homozygous mutation in the UFSP2 gene on chromosome 4q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33473208/ "DO"] synonym: "DEE106" EXACT [] synonym: "early infantile epileptic encephalopathy 106" EXACT [] xref: MIM:620028 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:51:23Z [Term] id: DOID:0070393 name: developmental and epileptic encephalopathy 107 alt_id: DOID:9004803 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first months of life, severe global developmental delay, profound intellectual disability, progressive microcephaly, and hypotonia that has_material_basis_in homozygous mutation in the NAPB gene on chromosome 20p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26235277/ "DO", https://pubmed.ncbi.nlm.nih.gov/28097321/ "DO", https://pubmed.ncbi.nlm.nih.gov/33189936/ "DO"] synonym: "DEE107" EXACT [] synonym: "early infantile epileptic encephalopathy 107" EXACT [] xref: MIM:620033 xref: NCI:C190869 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:52:52Z [Term] id: DOID:0070394 name: developmental and epileptic encephalopathy 108 alt_id: DOID:9006521 def: "A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34185323/ "DO", https://pubmed.ncbi.nlm.nih.gov/35095415/ "DO"] synonym: "DEE108" EXACT [] synonym: "early infantile epileptic encephalopathy 108" EXACT [] xref: MIM:620115 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:55:17Z [Term] id: DOID:0070395 name: developmental and epileptic encephalopathy 110 alt_id: DOID:9005910 def: "A developmental and epileptic encephalopathy characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life that has_material_basis_in homozygous or compound heterozygous mutation in the CACNA2D1 gene on chromosome 7q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35293990/ "DO"] synonym: "DEE110" EXACT [] synonym: "early infantile epileptic encephalopathy 110" EXACT [] xref: MIM:620149 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-05-31T13:57:03Z [Term] id: DOID:0070396 name: progressive leukoencephalopathy with ovarian failure alt_id: DOID:9006658 def: "An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24808023/ "DO"] synonym: "LKENP" EXACT [] synonym: "ovarioleukodystrophy" RELATED [] xref: MIM:615889 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:1100 ! ovarian disease is_a: DOID:9002704 ! Leukoencephalopathies created_by: mtutaj creation_date: 2023-06-29T20:38:22Z [Term] id: DOID:0070397 name: hypomyelinating leukodystrophy 23 alt_id: DOID:9000978 def: "A hypomyelinating leukodystrophy characterized by ataxia, deafness, liver dysfunction, and dilated cardiomyopathy that has_material_basis_in homozygous mutation in the RNF220 gene on chromosome 1p34. This disease results in death in the first or second decade of life. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33964137/ "DO"] synonym: "HLD23" EXACT [] synonym: "Hypomyelinating Leukodystrophy 23 with Ataxia, Deafness, Liver Dysfunction, and Dilated Cardiomyopathy" EXACT [] xref: MIM:619688 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T13:59:24Z [Term] id: DOID:0070398 name: hypomyelinating leukodystrophy 15 alt_id: DOID:9009193 def: "A hypomyelinating leukodystrophy characterized by onset of motor and cognitive impairment of variable severity in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the EPRS1 gene on chromosome 1q41. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29576217/ "DO"] synonym: "HLD15" EXACT [] xref: MIM:617951 xref: MONDO:0054782 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:01:16Z [Term] id: DOID:0070399 name: hypomyelinating leukodystrophy 18 alt_id: DOID:9000521 def: "A hypomyelinating leukodystrophy characterized by onset of global developmental delay in infancy or early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the DEGS1 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30620337/ "DO"] synonym: "HLD18" EXACT [] xref: MIM:618404 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:02:47Z [Term] id: DOID:0070400 name: hypomyelinating leukodystrophy 19 alt_id: DOID:9006466 def: "A hypomyelinating leukodystrophy characterized by onset of transient neurologic abnormalities in early infancy with resolution within the first or second decades that has_material_basis_in heterozygous mutation in the TMEM63A gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31587869/ "DO", https://pubmed.ncbi.nlm.nih.gov/33785861/ "DO"] synonym: "HLD19" EXACT [] synonym: "hypomyelinating leukodystrophy 19, transient infantile" EXACT [] synonym: "TMEM63A-RELATED CONDITION" EXACT [] xref: MIM:618688 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:04:36Z [Term] id: DOID:0070401 name: hypomyelinating leukodystrophy 25 alt_id: DOID:9001632 def: "A hypomyelinating leukodystrophy characterized by horizontal nystagmus, hypotonia, and global developmental delay apparent soon after birth or in infancy. that has_material_basis_in heterozygous mutation in the TMEM163 gene on chromosome 2q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35455965/ "DO", https://pubmed.ncbi.nlm.nih.gov/35953447/ "DO"] synonym: "HLD25" EXACT [] xref: MIM:620243 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:06:16Z [Term] id: DOID:0070402 name: hypomyelinating leukodystrophy 22 alt_id: DOID:9000735 def: "A hypomyelinating leukodystrophy characterized by global developmental delay with mildly impaired intellectual development, motor impairment with limited or no ability to walk, and dysarthria that has_material_basis_in heterozygous mutation in the CLDN11 gene on chromosome 3q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33313762/ "DO"] synonym: "HLD22" EXACT [] xref: MIM:619328 xref: NCI:C201587 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:07:46Z [Term] id: DOID:0070403 name: hypomyelinating leukodystrophy 26 alt_id: DOID:9008469 def: "A hypomyelinating leukodystrophy characterized by severe psychomotor delay, predominantly involving motor and expressive language development, cerebral and cerebellar atrophy, and corpus callosum hypoplasia that has_material_basis_in homozygous mutation in the SLC35B2 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35325049/ "DO"] synonym: "Chondrodysplasia with hypomyelinating leukodystrophy" EXACT [] synonym: "HLD26" EXACT [] synonym: "Hypomyelinating leukodystrophy 26 with chondrodysplasia" EXACT [] xref: MIM:620269 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2023-05-31T14:09:05Z [Term] id: DOID:0070404 name: hypomyelinating leukodystrophy 17 alt_id: DOID:9009183 def: "A hypomyelinating leukodystrophy characterized by onset in early infancy of microcephaly and lack of overall development that has_material_basis_in homozygous mutation in the AIMP2 gene on chromosome 7p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29215095/ "DO", https://pubmed.ncbi.nlm.nih.gov/35140751/ "DO"] synonym: "HLD17" EXACT [] synonym: "Leukodystrophy, hypomyelinating, 17" EXACT [] xref: MIM:618006 xref: MONDO:0054817 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:10:43Z [Term] id: DOID:0070405 name: hypomyelinating leukodystrophy 16 alt_id: DOID:9009170 def: "A hypomyelinating leukodystrophy characterized by onset of hypotonia, nystagmus, and mildly delayed motor development in infancy that has_material_basis_in heterozygous mutation in the TMEM106B gene on chromosome 7p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29186371/ "DO"] synonym: "HLD16" EXACT [] xref: MIM:617964 xref: MONDO:0054791 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:14:29Z [Term] id: DOID:0070406 name: hypomyelinating leukodystrophy 24 alt_id: DOID:9001753 def: "A hypomyelinating leukodystrophy characterized by global developmental delay and neurologic deterioration that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34403372/ "DO"] synonym: "HLD24" EXACT [] xref: MIM:619851 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:17:31Z [Term] id: DOID:0070407 name: hypomyelinating leukodystrophy 21 alt_id: DOID:9004862 def: "A hypomyelinating leukodystrophy characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life that has_material_basis_in homozygous mutation in the POLR3K gene on chromosome 16p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30584594/ "DO"] synonym: "HLD21" EXACT [] xref: MIM:619310 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2023-05-31T14:19:26Z [Term] id: DOID:0070408 name: Hengel-Maroofian-Schols syndrome alt_id: DOID:9005952 def: "A syndrome characterized by infant or early childhood onset, impaired intellectual development with poor or absent speech, pyramidal signs, microcephaly, short stature, and dysmorphic facial features has_material_basis_in homozygous or compound heterozygous mutation in the BCAS3 gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34022130/ "DO"] synonym: "HEMARS" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES" EXACT [] xref: MIM:619641 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2023-05-31T14:21:28Z [Term] id: DOID:0070409 name: autosomal recessive spinocerebellar ataxia 28 alt_id: DOID:9000809 def: "An autosomal recessive cerebellar ataxia characterized by onset in early childhood of mildly delayed motor development, gait ataxia, incoordination of fine motor movements, and dysarthria that has_material_basis_in homozygous mutation in the THG1L gene on chromosome 5q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31168944/ "DO"] synonym: "SCAR28" EXACT [] xref: MIM:618800 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:24:43Z [Term] id: DOID:0070410 name: autosomal recessive spinocerebellar ataxia 29 alt_id: DOID:9008984 def: "An autosomal recessive cerebellar ataxia characterized by delayed motor development in early infancy followed by difficulty walking due to an ataxic gait or inability to walk, hypotonia, and variably impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the VPS41 gene on chromosome 7p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33764426/ "DO"] synonym: "Barakat-van Ham-Kaya syndrome" EXACT [] synonym: "BAVAHAKA" EXACT [] synonym: "NEDHCA" EXACT [] synonym: "neurodevelopmental disorder with hypotonia and cerebellar ataxia" EXACT [] synonym: "SCAR29" EXACT [] xref: MIM:619389 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:26:54Z [Term] id: DOID:0070411 name: autosomal recessive spinocerebellar ataxia 30 alt_id: DOID:9006343 def: "An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29764912/ "DO"] synonym: "SCAR30" EXACT [] xref: MIM:619405 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:28:57Z [Term] id: DOID:0070412 name: autosomal recessive spinocerebellar ataxia 31 alt_id: DOID:9009088 def: "An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34161705/ "DO"] synonym: "SCAR31" EXACT [] xref: MIM:619422 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:30:35Z [Term] id: DOID:0070413 name: autosomal recessive spinocerebellar ataxia 32 alt_id: DOID:9003435 def: "An autosomal recessive cerebellar ataxia characterized by onset of gait ataxia in the second or third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the PRDX3 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33889951/ "DO"] synonym: "SCAR32" EXACT [] xref: MIM:619862 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:33:04Z [Term] id: DOID:0070414 name: autosomal recessive spinocerebellar ataxia 33 alt_id: DOID:9006060 def: "An autosomal recessive cerebellar ataxia characterized by delayed motor development apparent in infancy, unsteady ataxic gait, intention tremor, nystagmus, and speech delay with dysarthria that has_material_basis_in homozygous mutation in the RNU12 gene on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27863452/ "DO"] synonym: "SCAR33" EXACT [] xref: MIM:620208 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: mtutaj creation_date: 2023-05-31T14:35:25Z [Term] id: DOID:0070415 name: brachycephaly, trichomegaly, and developmental delay alt_id: DOID:9003486 def: "A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28257692/ "DO"] synonym: "BTDD" EXACT [] synonym: "Macinnes syndrome" EXACT [] synonym: "MCINS" EXACT [] xref: MIM:617412 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:421 ! hair disease is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-05-31T14:36:57Z [Term] id: DOID:0070416 name: Luo-Schoch-Yamamoto syndrome alt_id: DOID:9000444 def: "A autosomal dominant intellectual developmental disorder characterized by global developmental delay and impaired intellectual development apparent from infancy that has_material_basis_in heterozygous mutation in the RNF2 gene on chromosome 1q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33864376/ "DO"] synonym: "LUSYAM" EXACT [] synonym: "RNF2-ASSOCIATED NEURODEVELOPMENTAL CONDITION" EXACT [] xref: MIM:619460 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2023-05-31T14:41:01Z [Term] id: DOID:0070417 name: neurodevelopmental disorder with speech impairment and dysmorphic facies alt_id: DOID:9001194 def: "A autosomal dominant intellectual developmental disorder characterized by developmental delay associated with mild to moderately impaired intellectual development or learning difficulties, behavioral or psychiatric abnormalities, and delayed speech and language acquisition that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32346159/ "DO"] synonym: "NEDSID" EXACT [] synonym: "SETD1A-RELATED CONDITION" BROAD [] xref: MIM:619056 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9001487 ! Facies is_a: DOID:92 ! speech disorder created_by: mtutaj creation_date: 2023-05-31T14:44:25Z [Term] id: DOID:0070418 name: vertebral hypersegmentation and orofacial anomalies alt_id: DOID:9004229 def: "A syndrome characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs that has_material_basis_in heterozygous mutation in the GDF11 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31215115/ "DO"] synonym: "VHO" EXACT [] xref: MIM:619122 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060564 ! spinal disease is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2023-05-31T14:48:16Z [Term] id: DOID:0070419 name: acrocardiofacial syndrome alt_id: DOID:9001696 alt_id: MIM:600460 def: "A syndrome characterized by split-hand/split-foot malformation, facial anomalies, cleft lip/palate, congenital heart defect, genital anomalies, and intellectual deficit. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20920258 "DO"] synonym: "ACFS" EXACT [] synonym: "CCGE" EXACT [] synonym: "Cleft Palate, Cardiac Defect, Genital Anomalies, and Ectrodactyly" EXACT [] synonym: "cleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome" EXACT [] xref: GARD:1167 xref: MESH:C563936 xref: ORDO:2008 is_a: DOID:1682 ! congenital heart disease is_a: DOID:674 ! cleft palate is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9004795 ! Congenital Hand Deformities created_by: mtutaj creation_date: 2023-05-31T14:52:59Z [Term] id: DOID:0070420 name: developmental delay, hypotonia, and impaired language alt_id: DOID:9000135 def: "An autosomal dominant intellectual developmental disorder characterized by variably impaired intellectual development usually with hypotonia, mild motor delay, and language difficulties that has_material_basis_in heterozygous mutation in the FBXW7 gene on chromosome 4q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35395208/ "DO"] synonym: "DEDHIL" EXACT [] synonym: "FBXW7-RELATED CONDITION" EXACT [] xref: MIM:620012 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-05-31T16:45:31Z [Term] id: DOID:0070421 name: neurodevelopmental disorder with spasticity and poor growth alt_id: DOID:9009223 def: "An autosomal recessive intellectual developmental disorder characterized by axial hypotonia, delayed psychomotor development, poor feeding, and failure to thrive with onset in early infancy that has_material_basis_in homozygous mutation in the UFC1 gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29868776/ "DO"] synonym: "NEDSG" EXACT [] xref: MIM:618076 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: mtutaj creation_date: 2023-05-31T16:49:36Z [Term] id: DOID:0070422 name: syndromic X-linked intellectual disability Pilorge type alt_id: DOID:9001972 def: "A syndromic X-linked intellectual disability characterized by global developmental delay with variably impaired intellectual development, speech delay, and behavioral abnormalities including autism spectrum disorder that has_material_basis_in heterozygous or hemizygous mutation in the GLRA2 gene on chromosome Xp22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35294868/ "DO"] synonym: "MRXSP" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Pilorge type" EXACT [] xref: MIM:301076 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2023-05-31T16:54:32Z [Term] id: DOID:0070423 name: early onset progressive encephalopathy with brain atrophy and thin corpus callosum alt_id: DOID:9000707 def: "An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27666370/ "DO", https://pubmed.ncbi.nlm.nih.gov/27666374/ "DO", https://pubmed.ncbi.nlm.nih.gov/36527993/ "DO"] synonym: "PEBAT" EXACT [] synonym: "TBCD-RELATED CONDITION" EXACT [] xref: MIM:617193 xref: NCI:C202602 xref: ORDO:496641 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9004462 ! Atrophy is_a: DOID:9006534 ! Nervous System Malformations created_by: mtutaj creation_date: 2023-05-31T16:57:10Z [Term] id: DOID:0070424 name: combined oxidative phosphorylation deficiency 44 alt_id: DOID:9002715 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FASTKD2 gene on chromosome 2q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31944455/ "DO", https://pubmed.ncbi.nlm.nih.gov/36531759/ "DO"] synonym: "COXPD44" EXACT [] synonym: "FASTKD2-RELATED CONDITION" EXACT [] xref: MIM:618855 xref: ORDO:166105 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:43:32Z [Term] id: DOID:0070425 name: combined oxidative phosphorylation deficiency 52 alt_id: DOID:9005483 def: "A combined oxidative phosphorylation deficiency characterized by infantile onset, lactic acidemia, hypotonia, respiratory chain complex II and III deficiency, and multisystem organ failure that has_material_basis_in homozygous mutation in the NFS1 gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24498631/ "DO", https://pubmed.ncbi.nlm.nih.gov/33457206/ "DO"] synonym: "COXPD52" EXACT [] xref: MIM:619386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:45:20Z [Term] id: DOID:0070426 name: combined oxidative phosphorylation deficiency 53 alt_id: DOID:9005629 def: "A combined oxidative phosphorylation deficiency characterized by congenital-to-infantile onset, hypomyelination, microcephaly, liver dysfunction, and recurrent autoinflammation that has_material_basis_in homozygous mutation in the C2ORF69 gene on chromosome 2q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33945503/ "DO", https://pubmed.ncbi.nlm.nih.gov/34038740/ "DO"] synonym: "COXPD53" EXACT [] synonym: "Elbracht-Isikay syndrome" EXACT [] synonym: "global developmental delay, progressive microcephaly, structural brain abnormalities, and autoinflammation" EXACT [] xref: MIM:619423 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:47:04Z [Term] id: DOID:0070427 name: combined oxidative phosphorylation deficiency 54 alt_id: DOID:9006756 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PRORP gene on chromosome 14q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34715011/ "DO"] synonym: "COXPD54" EXACT [] xref: MIM:619737 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:49:06Z [Term] id: DOID:0070428 name: combined oxidative phosphorylation deficiency 55 alt_id: DOID:9001375 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the POLRMT gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33602924/ "DO"] synonym: "COXPD55" EXACT [] xref: MIM:619743 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:50:24Z [Term] id: DOID:0070429 name: combined oxidative phosphorylation deficiency 56 alt_id: DOID:9009069 def: "A combined oxidative phosphorylation deficiency characterized by lethargy at birth, hypotonia, developmental delay, myopathy, and ptosis that has_material_basis_in compound heterozygous mutation in the TAMM41 gene on chromosome 3p25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35321494/ "DO"] synonym: "COXPD56" EXACT [] xref: MIM:620139 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:51:57Z [Term] id: DOID:0070430 name: combined oxidative phosphorylation deficiency 57 alt_id: DOID:9001293 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in compound heterozygous or homozygous mutation in the CRLS1 gene on chromosome 20p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35147173/ "DO"] synonym: "COXPD57" EXACT [] xref: MIM:620167 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-06-29T20:53:27Z [Term] id: DOID:0070431 name: hyperphosphatasia with impaired intellectual development syndrome alt_id: DOID:9005046 def: "An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed. (DO)" [https://medlineplus.gov/genetics/condition/mabry-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/26219719/ "DO"] synonym: "HPMRS" EXACT [] synonym: "hyperphosphatasia-intellectual disability syndrome" EXACT [] synonym: "hyperphosphatasia with intellectual disability syndrome" EXACT [] synonym: "hyperphosphatasia with mental retardation" EXACT [] synonym: "hyperphosphatasia with mental retardation syndrome" EXACT [] synonym: "Mabry disease" EXACT [] synonym: "Mabry syndrome" EXACT [] xref: MESH:C565495 xref: MIM:PS239300 xref: ORDO:247262 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:2485 ! phosphorus metabolism disease is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2023-06-29T20:55:08Z [Term] id: DOID:0070432 name: hyperphosphatasia with impaired intellectual development syndrome 5 alt_id: DOID:9007551 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27626616/ "DO"] synonym: "glycosylphosphatidylinositol biosynthesis defect 11" EXACT [] synonym: "GPIBD11" EXACT [] synonym: "HPMRS5" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 5" EXACT [] xref: MIM:616025 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2023-06-29T21:01:16Z [Term] id: DOID:0070433 name: hyperphosphatasia with impaired intellectual development syndrome 1 alt_id: DOID:9002100 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20802478/ "DO", https://pubmed.ncbi.nlm.nih.gov/29310717/ "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 2" EXACT [] synonym: "GPIBD2" EXACT [] synonym: "HPMRS1" EXACT [] synonym: "HYPERPHOSPHATASIA WITH INTELLECTUAL DISABILITY SYNDROME 1" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 1" EXACT [] synonym: "Mabry syndrome" EXACT [] xref: MIM:239300 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2023-06-29T21:06:04Z [Term] id: DOID:0070434 name: hyperphosphatasia with impaired intellectual development syndrome 2 alt_id: DOID:9003727 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22683086/ "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 6" EXACT [] synonym: "GPIBD6" EXACT [] synonym: "HPMRS2" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 2" EXACT [] xref: MIM:614749 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome created_by: mtutaj creation_date: 2023-06-29T21:07:30Z [Term] id: DOID:0070435 name: hyperphosphatasia with impaired intellectual development syndrome 3 alt_id: DOID:9000867 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23561846/ "DO", https://pubmed.ncbi.nlm.nih.gov/23561847/ "DO", https://pubmed.ncbi.nlm.nih.gov/36833286/ "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 8" EXACT [] synonym: "GPIBD8" EXACT [] synonym: "HPMRS3" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 3" EXACT [] synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 17" EXACT [] synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 21" EXACT [] synonym: "MRT17" EXACT [] synonym: "MRT21" EXACT [] xref: MIM:614207 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome created_by: mtutaj creation_date: 2023-06-29T21:08:45Z [Term] id: DOID:0070436 name: hyperphosphatasia with impaired intellectual development syndrome 4 alt_id: DOID:9007958 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP3 gene on chromosome 17q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24439110/ "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 10" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 62" EXACT [] synonym: "GPIBD10" EXACT [] synonym: "GPIBD62" EXACT [] synonym: "HPMRS4" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 4" EXACT [] xref: MIM:615716 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2023-06-29T21:10:01Z [Term] id: DOID:0070437 name: hyperphosphatasia with impaired intellectual development syndrome 6 alt_id: DOID:9001811 def: "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26293662/ "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 12" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 40" EXACT [] synonym: "GPIBD12" EXACT [] synonym: "GPIBD40" EXACT [] synonym: "HPMRS6" EXACT [] synonym: "Hyperphosphatasia with Mental Retardation Syndrome 6" EXACT [] xref: MIM:616809 is_a: DOID:0070431 ! hyperphosphatasia with impaired intellectual development syndrome created_by: mtutaj creation_date: 2023-06-29T21:11:09Z [Term] id: DOID:0070438 name: retinal macular dystrophy def: "A macular degeneration characterized by non-progression or slow progression and drusen-like deposits in varying degrees. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27496188/ "DO", https://pubmed.ncbi.nlm.nih.gov/35331648/ "DO", https://pubmed.ncbi.nlm.nih.gov/36243009 "DO"] synonym: "MCDR" EXACT [] xref: MIM:PS136550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4448 ! macular degeneration created_by: mtutaj creation_date: 2023-06-29T21:12:26Z [Term] id: DOID:0070439 name: North Carolina macular dystrophy alt_id: DOID:9001226 alt_id: MIM:136550 def: "A retinal macular dystrophy characterized by limited drusen, larger confluent drusen, or severe colobomatous-like chorioretinal atrophy in the central macular region present at birth that are nonprogressive that has_material_basis_in heterozygous mutation in a DNase I hypersensitivity site on chromosome 6q16 upstream of the PRDM13 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36243009 "DO"] synonym: "CAPED" EXACT [] synonym: "central areolar pigment epithelial dystrophy" EXACT [] synonym: "central retinal pigment epithelial dystrophy" EXACT [] synonym: "MCDR1" EXACT [] synonym: "NCMD" EXACT [] synonym: "progressive foveal dystrophy" EXACT [] synonym: "retinal macular dystrophy 1" EXACT [] synonym: "Retinal Macular Dystrophy 1, North Carolina Type" EXACT [] xref: GARD:9179 xref: MESH:C537835 xref: NCI:C168999 xref: ORDO:75327 is_a: DOID:0070438 ! retinal macular dystrophy created_by: mtutaj creation_date: 2023-06-29T21:15:45Z [Term] id: DOID:0070440 name: retinal macular dystrophy 3 alt_id: DOID:9004386 def: "A retinal macular dystrophy that has_material_basis_in variation in the chromosomal region 5p15.33-p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27496188/ "DO"] synonym: "MCDR3" EXACT [] xref: MIM:608850 is_a: DOID:0070438 ! retinal macular dystrophy created_by: mtutaj creation_date: 2023-06-29T21:18:01Z [Term] id: DOID:0070441 name: retinal macular dystrophy 4 alt_id: DOID:9005553 def: "A retinal macular dystrophy characterized by late-onset macular degeneration, with multiple drusen-like deposits, macular geographic atrophy, and choroidal neovascularization that has_material_basis_in heterozygous mutation in the CLEC3B gene on chromosome 3p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35331648/ "DO"] synonym: "MCDR4" EXACT [] xref: MIM:619977 is_a: DOID:0070438 ! retinal macular dystrophy created_by: mtutaj creation_date: 2023-06-29T21:20:32Z [Term] id: DOID:0070442 name: paroxysmal nonkinesigenic dyskinesia 3 alt_id: DOID:9002672 def: "A dystonia characterized by epilepsy and attacks of dystonic or choreathetotic movements, which may coexist or occur singly, that has_material_basis_in heterozygous mutation in the KCNMA1 gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15937479/ "DO", https://pubmed.ncbi.nlm.nih.gov/26195193/ "DO"] synonym: "generalized epilepsy and paroxysmal dyskinesia" EXACT [] synonym: "generalized epilepsy with paroxysmal dyskinesia" EXACT [] synonym: "GEPD" EXACT [] synonym: "paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy" EXACT [] synonym: "PNKD3" EXACT [] xref: MESH:C563719 xref: MIM:609446 xref: MONDO:0012276 xref: ORDO:79137 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12859 ! choreatic disease is_a: DOID:543 ! dystonia is_a: DOID:9001793 ! Generalized Epilepsy created_by: mtutaj creation_date: 2023-06-29T21:22:47Z [Term] id: DOID:0070443 name: neurodevelopmental disorder with cerebellar atrophy and motor dysfunction alt_id: DOID:9000830 def: "An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33963192/ "DO", https://pubmed.ncbi.nlm.nih.gov/34569062/ "DO"] synonym: "GEMIN5-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "NEDCAM" EXACT [] xref: MIM:619333 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9277 ! primary cerebellar degeneration created_by: mtutaj creation_date: 2023-06-29T21:25:43Z [Term] id: DOID:0070444 name: neurodevelopmental disorder with language delay and seizures alt_id: DOID:9003411 def: "An autosomal recessive intellectual developmental disorder characterized by early-onset seizures and global developmental delay with intellectual disability and speech delay that has_material_basis_in homozygous or compound heterozygous mutation in the TIAM1 gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35240055/ "DO"] synonym: "NEDLDS" EXACT [] xref: MIM:619908 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:1826 ! epilepsy is_a: DOID:9005466 ! Language Development Disorders created_by: mtutaj creation_date: 2023-06-29T21:29:05Z [Term] id: DOID:0070445 name: early-onset dystonia and/or spastic paraplegia alt_id: DOID:9000491 def: "A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34636445/ "DO"] synonym: "ATP5G3-ASSOCIATED DISORDER" EXACT [] synonym: "DYTSPG" EXACT [] xref: MIM:619681 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2023-06-29T21:31:43Z [Term] id: DOID:0070446 name: mitochondrial DNA depletion syndrome 16 alt_id: DOID:9008345 def: "A mitochondrial DNA depletion syndrome characterized by infantile onset of fulminant hepatic liver failure that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27592148/ "DO", https://pubmed.ncbi.nlm.nih.gov/30157269/ "DO"] synonym: "mitochondrial DNA depletion syndrome 16 (hepatic type)" EXACT [] synonym: "MTDPS16" EXACT [] xref: MIM:618528 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2023-06-29T21:34:46Z [Term] id: DOID:0070447 name: mitochondrial DNA depletion syndrome 16B alt_id: DOID:9002169 def: "A mitochondrial DNA depletion syndrome characterized by childhood onset of progressive neuroophthalmic manifestation including optic atrophy, mixed polyneuropathy, spinal and cerebellar ataxia and generalized chorea that has_material_basis_in homozygous mutation in the POLG2 gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31778857/ "DO"] synonym: "MITOCHONDRIAL DNA DEPLETION SYNDROME 16B (NEUROOPHTHALMIC TYPE)" EXACT [] synonym: "MTDPS16B" EXACT [] xref: MIM:619425 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:12859 ! choreatic disease is_a: DOID:1389 ! polyneuropathy is_a: DOID:5723 ! optic atrophy is_a: DOID:9002121 ! Spinocerebellar Ataxias created_by: mtutaj creation_date: 2023-06-29T21:36:36Z [Term] id: DOID:0070448 name: mitochondrial DNA depletion syndrome 17 alt_id: DOID:9005661 def: "A mitochondrial DNA depletion syndrome characterized by childhood onset of encephalopathy, stroke-like episodes, lactic acidosis, hypocitrullinemia, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the MRM2 gene on chromosome 7p22.3. Phenotype is similar to MELAS syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28973171/ "DO"] synonym: "MTDPS17" EXACT [] xref: MIM:618567 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2023-06-29T21:38:16Z [Term] id: DOID:0070449 name: mitochondrial DNA depletion syndrome 18 alt_id: DOID:9006116 def: "A mitochondrial DNA depletion syndrome characterized by early onset progressive weakness, atrophy of the distal limb muscles, and multiple mitochondrial oxidative phosphorylation deficiencies that has_material_basis_in homozygous mutation in the SLC25A21 gene on chromosome 14q11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29517768/ "DO"] synonym: "MTDPS18" EXACT [] xref: MIM:618811 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2023-06-29T21:39:36Z [Term] id: DOID:0070450 name: mitochondrial DNA depletion syndrome 19 alt_id: DOID:9006004 def: "A mitochondrial DNA depletion syndrome that has_material_basis_in compound heterozygous mutation in the SLC25A10 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29211846/ "DO"] synonym: "MTDPS19" EXACT [] xref: MIM:618972 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2023-06-29T21:40:52Z [Term] id: DOID:0070451 name: mitochondrial DNA depletion syndrome 20 alt_id: DOID:9001068 def: "A mitochondrial DNA depletion syndrome characterized by variable neurogastrointestinal encephalopathy including severe gastrointestinal dysmotility, neurogenic bladder, muscle weakness and atrophy, headaches, stroke-like episodes, seizures, pyramidal signs, and learning difficulties or cognitive decline that has_material_basis_in compound heterozygous mutation in the LIG3 gene on chromosome 17q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33855352/ "DO"] synonym: "mitochondrial DNA depletion syndrome 20 (MNGIE type)" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalomyopathy syndrome, LIG3-related" EXACT [] synonym: "MTDPS20" EXACT [] xref: MIM:619780 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type created_by: mtutaj creation_date: 2023-06-29T21:42:02Z [Term] id: DOID:0070452 name: xanthinuria type I alt_id: DOID:9008241 alt_id: MIM:278300 def: "A xanthinuria characterized by isolated deficiency of xanthine dehydrogenase that has_material_basis_in homozygous or compound heterozygous mutation in the XDH gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9153281/ "DO"] synonym: "XAN1" EXACT [] xref: GARD:5621 xref: MESH:C562584 xref: ORDO:93601 is_a: DOID:0060236 ! xanthinuria created_by: mtutaj creation_date: 2023-07-21T09:24:27Z [Term] id: DOID:0070453 name: xanthinuria type II alt_id: DOID:9004466 alt_id: MIM:603592 def: "A xanthinuria characterized by deficiency of xanthine dehydrogenase and aldehyde oxidase that has_material_basis_in homozygous or compound heterozygous mutation in the MOCOS gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11302742/ "DO", https://pubmed.ncbi.nlm.nih.gov/23203137/ "DO"] synonym: "combined deficiency of xanthine dehydrogenase and aldehyde oxidase" EXACT [] synonym: "XAN2" EXACT [] synonym: "xanthinuria type 2" EXACT [] xref: GARD:5620 xref: MESH:C566358 xref: ORDO:93602 is_a: DOID:0060236 ! xanthinuria created_by: mtutaj creation_date: 2023-07-21T09:24:46Z [Term] id: DOID:0070454 name: hereditary spastic paraplegia 70 alt_id: DOID:9000026 def: "A hereditary spastic paraplegia characterized by infantile onset of motor delay and difficulties walking due to spasticity of the lower limbs that has_material_basis_in compound heterozygous mutation in the MARS1 gene on chromosome 12q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34585293/ "DO"] synonym: "autosomal recessive spastic paraplegia 70" EXACT [] synonym: "SPG70" EXACT [] xref: MIM:620323 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:27:30Z [Term] id: DOID:0070455 name: hereditary spastic paraplegia 79A def: "A hereditary spastic paraplegia characterized by slowly progressive cerebellar or sensory ataxia and spasticity of the lower limbs that has_material_basis_in heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35986737/ "DO"] synonym: "autosomal dominant spastic paraplegia 79A" EXACT [] synonym: "autosomal dominant spastic paraplegia 79A, with ataxia" EXACT [] synonym: "SPG79A" EXACT [] xref: MIM:620221 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:30:23Z [Term] id: DOID:0070456 name: hereditary spastic paraplegia 87 alt_id: DOID:9003756 def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM63C gene on chromosome 14q24.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35718349/ "DO"] synonym: "autosomal recessive spastic paraplegia 87" EXACT [] synonym: "SPG87" EXACT [] xref: MIM:619966 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:35:34Z [Term] id: DOID:0070457 name: hereditary spastic paraplegia 88 alt_id: DOID:9008849 def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that slowly progresses with variable severity that has_material_basis_in heterozygous mutation in the KPNA3 gene on chromosome 13q14.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34564892/ "DO", https://pubmed.ncbi.nlm.nih.gov/34825409/ "DO", https://pubmed.ncbi.nlm.nih.gov/34981581/ "DO"] synonym: "autosomal dominant spastic paraplegia 88" EXACT [] synonym: "SPG88" EXACT [] xref: MIM:620106 xref: MONDO:0859309 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:37:18Z [Term] id: DOID:0070458 name: hereditary spastic paraplegia 89 alt_id: DOID:9002632 def: "A hereditary spastic paraplegia characterized by infantile or early childhood onset of lower limb spasticity that has_material_basis_in homozygous mutation in the AMFR gene on chromosome 16q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37119330/ "DO"] synonym: "autosomal recessive spastic paraplegia 89" EXACT [] synonym: "SPG89" EXACT [] xref: MIM:620379 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:38:37Z [Term] id: DOID:0070459 name: hereditary spastic paraplegia 90A def: "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in heterozygous mutation in the SPTSSA gene on chromosome 14q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36718090/ "DO"] synonym: "autosomal dominant spastic paraplegia 90A" EXACT [] synonym: "SPG90A" EXACT [] synonym: "SPTSSA-RELATED CONDITION" BROAD [] xref: MIM:620416 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:39:58Z [Term] id: DOID:0070460 name: hereditary spastic paraplegia 90B def: "A hereditary spastic paraplegia characterized by motor impairment and progressive lower limb spasticity that has_material_basis_in homozygous mutation in the SPTSSA gene on chromosome 14q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36718090/ "DO"] synonym: "spastic paraplegia 90B, autosomal recessive" EXACT [] synonym: "SPG90B" EXACT [] synonym: "SPTSSA-RELATED CONDITION" BROAD [] xref: MIM:620417 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2023-07-21T09:42:08Z [Term] id: DOID:0070461 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4A def: "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by infantile onset of poor feeding and failure to thrive that may resolve spontaneously or progress to include developmental delay with impaired intellectual development and movement abnormalities that has_material_basis_in autosomal dominant inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34483339/ "DO", https://pubmed.ncbi.nlm.nih.gov/34954817/ "DO"] synonym: "MC5DN4A" EXACT [] xref: MIM:620358 xref: MONDO:0957254 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060333 ! mitochondrial complex V (ATP synthase) deficiency nuclear type 4 created_by: mtutaj creation_date: 2023-07-21T09:43:13Z [Term] id: DOID:0070462 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 4B def: "A mitochondrial complex V (ATP synthase) deficiency nuclear type 4 characterized by onset at birth of horizontal and vertical nystagmus, abnormal primitive reflexes, and tonus dysregulation, followed by fatal encephalopathy that has_material_basis_in autosomal recessive inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23599390/ "DO"] synonym: "MC5DN4B" EXACT [] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B, encephalopathic type" EXACT [] xref: MIM:615228 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060333 ! mitochondrial complex V (ATP synthase) deficiency nuclear type 4 created_by: mtutaj creation_date: 2023-07-21T09:44:25Z [Term] id: DOID:0070463 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 5 alt_id: DOID:9005595 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous mutation in the ATP5F1D gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29478781/ "DO"] synonym: "MC5DN5" EXACT [] synonym: "MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, ATP5F1D TYPE" EXACT [] xref: MIM:618120 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency created_by: mtutaj creation_date: 2023-07-21T09:48:06Z [Term] id: DOID:0070464 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 7 alt_id: DOID:9002101 def: "A mitochondrial complex V (ATP synthase) deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5PO gene on chromosome 21q22.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34954817/ "DO", https://pubmed.ncbi.nlm.nih.gov/35621276/ "DO"] synonym: "MC5DN7" EXACT [] xref: MIM:620359 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency created_by: mtutaj creation_date: 2023-07-21T09:49:46Z [Term] id: DOID:0070465 name: spinocerebellar ataxia with axonal neuropathy type 3 alt_id: DOID:9008083 def: "An autosomal recessive cerebellar ataxia characterized by onset of slowly progressive axonal peripheral neuropathy in the first decade of life, evident in distal muscle weakness and atrophy and distal sensory impairment, followed by cerebellar ataxia and atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the COA7 gene on chromosome 1p32.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29718187/ "DO"] synonym: "Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy 3" EXACT [] synonym: "SCAN3" EXACT [] synonym: "spinocerebellar ataxia with axonal neuropathy 3" EXACT [] xref: EFO:0010249 xref: MIM:618387 is_a: DOID:9000588 ! Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy created_by: mtutaj creation_date: 2023-07-21T09:51:08Z [Term] id: DOID:0070466 name: carpal tunnel syndrome 1 alt_id: DOID:9007824 def: "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8309582/ "DO"] synonym: "CTS1" EXACT [] xref: MIM:115430 xref: MONDO:0020730 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12169 ! carpal tunnel syndrome created_by: mtutaj creation_date: 2023-07-21T09:52:01Z [Term] id: DOID:0070467 name: carpal tunnel syndrome 2 alt_id: DOID:9003916 def: "A carpal tunnel syndrome that has_material_basis_in heterozygous mutation in the COMP gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32686688/ "DO"] synonym: "CTS2" EXACT [] xref: MIM:619161 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12169 ! carpal tunnel syndrome created_by: mtutaj creation_date: 2023-07-21T09:53:19Z [Term] id: DOID:0070468 name: Yoon-Bellen neurodevelopmental syndrome alt_id: DOID:9004385 def: "A syndrome characterized by onset in the first decade of highly variable neurodevelopmental phenotypes including global developmental delay, intellectual disability, seizures, hearing and visual problems, and ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the OGDHL gene on chromosome 10q11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28017472/ "DO", https://pubmed.ncbi.nlm.nih.gov/34800363/ "DO"] synonym: "YOBELN" EXACT [] xref: MIM:619701 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9008582 ! Developmental Disease created_by: mtutaj creation_date: 2023-09-29T10:07:08Z [Term] id: DOID:0070469 name: neurodevelopmental disorder with dysmorphic facies and thin corpus callosum alt_id: DOID:9000340 def: "An autosomal dominant intellectual developmental disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech and language, dysmorphic facial features, and corpus callosum abnormalities that has_material_basis_in heterozygous mutation in the SUPT16H gene on chromosome 14q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31924697/ "DO", https://pubmed.ncbi.nlm.nih.gov/36255738/ "DO"] synonym: "NEDDFAC" EXACT [] xref: MIM:619480 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9001487 ! Facies is_a: DOID:9001999 ! Agenesis of Corpus Callosum created_by: mtutaj creation_date: 2023-09-29T10:09:25Z [Term] id: DOID:0070470 name: chromosome 1p36.33 duplication syndrome alt_id: DOID:9002611 def: "A chromosomal duplication syndrome characterized by cardiomyopathy, corneal clouding or cataracts, hyperlactacidemia, and perinatal death that has_material_basis_in heterozygous duplication within the ATAD3 gene cluster, including the ATAD3A, ATAD3B, and ATAD3C genes, on chromosome 1p36.33 resulting in ATAD3A/ATAD3C gene fusion. Hypotonia, encephalopathy, seizures, and white matter abnormalities are also common. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32004445/ "DO", https://pubmed.ncbi.nlm.nih.gov/33575671/ "DO"] synonym: "Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster" EXACT [] synonym: "Chromosome 1p36.33 duplication syndrome, ATAD3 gene cluster, autosomal dominant" EXACT [] xref: MIM:618815 xref: ORDO:656279 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: mtutaj creation_date: 2023-11-30T14:11:12Z [Term] id: DOID:0070471 name: early-onset epilepsy 2 alt_id: DOID:9001558 def: "An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31197650/ "DO"] synonym: "EPEDD" EXACT [] synonym: "EPEO2" EXACT [] synonym: "EPILEPSY, EARLY-ONSET, WITH OR WITHOUT DEVELOPMENTAL DELAY" EXACT [] synonym: "SETD1A-RELATED CONDITION" BROAD [] xref: EFO:0010739 xref: MIM:618832 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1826 ! epilepsy is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-09-29T10:12:06Z [Term] id: DOID:0070472 name: early-onset epilepsy 3 alt_id: DOID:9006144 def: "An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36074901/ "DO", https://pubmed.ncbi.nlm.nih.gov/37161035/ "DO"] synonym: "early-onset epilepsy-3 with or without developmental delay" EXACT [] synonym: "EPEO3" EXACT [] synonym: "EPILEPSY, EARLY-ONSET, 3, WITH DEVELOPMENTAL DELAY" NARROW [] xref: MIM:620465 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1826 ! epilepsy created_by: mtutaj creation_date: 2023-09-29T10:15:39Z [Term] id: DOID:0070473 name: Zaki syndrome alt_id: DOID:9001208 def: "A syndrome characterized by developmental delay, progressive microcephaly, short stature, and dysmorphic features including sparse scalp hair, cupped ears, wide nose and mouth, short philtrum, and high-arched palate that has_material_basis_in homozygous or compound heterozygous mutation in the WLS gene on chromosome 1p31.3. Additional variable features may include ocular, skeletal, cardiac, and renal anomalies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34587386/ "DO", https://pubmed.ncbi.nlm.nih.gov/37005218/ "DO"] synonym: "MICROCEPHALY, PROGRESSIVE, WITH DEVELOPMENTAL DELAY, CUPPED EARS, AND DYSMORPHIC FEATURES" EXACT [] synonym: "WLS SYNDROME" EXACT [] synonym: "ZKS" EXACT [] xref: MIM:619648 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9005835 ! Congenital Abnormalities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-11-30T14:13:47Z [Term] id: DOID:0070474 name: childhood-onset neurodegeneration with brain atrophy alt_id: DOID:9008006 def: "A neurodegenerative disease characterized by loss of motor and cognitive skills between ages 2 and 7 years with progressive cerebral and cerebellar atrophy, resulting in the inability to walk, absence of language, and profound intellectual disability, that has_material_basis_in heterozygous mutation in the UBTF gene on chromosome 17q21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28777933/ "DO"] synonym: "childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder" EXACT [] synonym: "CONDBA" EXACT [] synonym: "INFANTILE OR CHILDHOOD ONSET NEURODEGENERATIVE DISEASE, GLOBAL DEVELOPMENTAL DELAY, AND INTELLECTUAL DISABILITY" EXACT [] synonym: "UBTF E210K NEUROREGRESSION SYNDROME" EXACT [] synonym: "UBTF-RELATED CONDITION" EXACT [] synonym: "UBTF-RELATED DISORDER" EXACT [] xref: GARD:13658 xref: MIM:617672 xref: ORDO:500180 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9004462 ! Atrophy created_by: mtutaj creation_date: 2023-11-30T14:16:01Z [Term] id: DOID:0070475 name: SMARCB1-deficient renal medullary carcinoma alt_id: DOID:9005067 def: "A renal cell carcinoma that develops in the renal medulla. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28697319/ "DO", https://pubmed.ncbi.nlm.nih.gov/35853783/ "DO", https://pubmed.ncbi.nlm.nih.gov/36645398/ "DO"] synonym: "kidney medullary carcinoma" EXACT [] synonym: "medullary adenocarcinoma" EXACT [] synonym: "medullary carcinoma of the kidney" EXACT [] synonym: "medullary renal cell carcinoma" EXACT [] synonym: "renal medullary carcinoma" EXACT [] synonym: "RMC" EXACT [] xref: EFO:1000314 xref: GARD:13175 xref: NCI:C7572 xref: ORDO:319319 is_a: DOID:4450 ! renal cell carcinoma created_by: mtutaj creation_date: 2023-10-23T09:50:28Z [Term] id: DOID:0070476 name: diphthamide deficiency syndrome def: "An inherited metabolic disorder characterized by global developmental delay, short stature, dysmorphic craniofacial features, and sparse hair that has_material_basis_in deficient diphthamidylation of the eukaryotic translation Elongation Factor 2 protein (gene: EEF2). (DO)" [https://pubmed.ncbi.nlm.nih.gov/32576952/ "DO", https://pubmed.ncbi.nlm.nih.gov/35482014/ "DO"] synonym: "craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome" EXACT [] synonym: "DEDSSH" EXACT [] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair" EXACT [] xref: MIM:PS616901 xref: ORDO:459061 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2023-10-23T09:55:11Z [Term] id: DOID:0070477 name: diphthamide deficiency syndrome 1 alt_id: DOID:9005766 def: "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DPH1 gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30877278/ "DO"] synonym: "DEDSSH1" EXACT [] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair 1" EXACT [] synonym: "developmental delay with short stature, dysmorphic features, and sparse hair" EXACT [] synonym: "DPH1 syndrome" EXACT [] synonym: "Loucks-Innes syndrome" EXACT [] xref: MIM:616901 is_a: DOID:0070476 ! diphthamide deficiency syndrome is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2023-10-23T09:59:17Z [Term] id: DOID:0070478 name: diphthamide deficiency syndrome 2 alt_id: DOID:9007201 def: "A diphthamide deficiency syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the DPH2 gene on chromosome 1p34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32576952/ "DO"] synonym: "DEDSSH2" EXACT [] synonym: "developmental delay with short stature, dysmorphic facial features, and sparse hair 2" EXACT [] xref: MIM:620062 is_a: DOID:0070476 ! diphthamide deficiency syndrome is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2023-10-23T09:59:35Z [Term] id: DOID:0070479 name: neurodevelopmental disorder with short stature, prominent forehead, and feeding difficulties alt_id: DOID:9008919 def: "An diphthamide deficiency syndrome characterized by distinct craniofacial features, multisystem dysfunction, profound neurodevelopmental delays, and neonatal death that has_material_basis_in homozygous or compound heterozygous mutation in the DPH5 gene on chromosome 1p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35482014/ "DO"] synonym: "DPH5-RELATED DIPHTHAMIDE-DEFICIENCY SYNDROME" EXACT [] synonym: "NEDSFF" EXACT [] xref: MIM:620070 xref: MONDO:0859295 is_a: DOID:0070476 ! diphthamide deficiency syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2023-10-23T10:16:43Z [Term] id: DOID:0070480 name: schwannomatosis 1 def: "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the SMARCB1 gene on chromosome 22q11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19582488/ "DO", https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO"] synonym: "SCHWANNOMATOSIS 1, SOMATIC" NARROW [] synonym: "SMARCB1-related schwannomatosis" EXACT [] synonym: "SWN1" EXACT [] synonym: "SWNTS1" EXACT [] xref: MIM:162091 xref: NCI:C186703 is_a: DOID:3204 ! schwannomatosis created_by: mtutaj creation_date: 2023-10-23T10:21:53Z [Term] id: DOID:0070481 name: schwannomatosis 2 def: "A schwannomatosis that has_material_basis_in germline heterozygous mutation in the LZTR1 gene on chromosome 22q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24362817/ "DO", https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO"] synonym: "LZTR1-RELATED DISORDER" BROAD [] synonym: "LZTR1-related schwannomatosis" EXACT [] synonym: "Schwannomatosis-2, susceptibility to" RELATED [] synonym: "SWN2" EXACT [] xref: MIM:615670 xref: NCI:C186704 is_a: DOID:3204 ! schwannomatosis created_by: mtutaj creation_date: 2023-10-23T10:22:08Z [Term] id: DOID:0070482 name: spinal neurofibromatosis alt_id: DOID:9005235 alt_id: MIM:162210 def: "A neurofibromatosis 1 characterized by bilateral neurofibromas of all spinal roots. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25211147/ "DO", https://pubmed.ncbi.nlm.nih.gov/34012067/ "DO"] synonym: "familial spinal neurofibromatosis" EXACT [] synonym: "FNSF" EXACT [] synonym: "FSNF" EXACT [] synonym: "SNF" EXACT [] synonym: "SPINAL NEUROFIBROMAS" EXACT [] xref: MESH:C563523 is_a: DOID:0111253 ! neurofibromatosis 1 created_by: mtutaj creation_date: 2023-10-23T10:28:35Z [Term] id: DOID:0070483 name: Watson syndrome alt_id: DOID:9002380 def: "A RASopathy characterized by pulmonic stenosis, cafe-au-lait macules, decreased intellectual ability, and short stature that has_material_basis_in heterozygous mutation in the NF1 gene on chromosome 17q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1770531/ "DO", https://pubmed.ncbi.nlm.nih.gov/6025371/ "DO"] synonym: "cafe-au-lait macules with pulmonary stenosis" EXACT [] synonym: "cafe-au-lait spots with pulmonic stenosis" EXACT [] synonym: "WTSN" EXACT [] xref: MIM:193520 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:6420 ! pulmonary valve stenosis is_a: DOID:9002453 ! Cafe-au-Lait Spots is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2023-10-23T10:32:19Z [Term] id: DOID:0070484 name: Legius syndrome alt_id: DOID:9007799 alt_id: MIM:611431 def: "A RASopathy characterized by multiple cafe-au-lait macules and possible skin fold freckling without neurofibromas, optic gliomas, or Lisch nodules that has_material_basis_in heterozygous mutation in the SPRED1 gene on chromosome 15q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34012067/ "DO"] synonym: "LGSS" EXACT [] synonym: "neurofibromatosis type 1-like syndrome" EXACT [] synonym: "NF1-like syndrome" EXACT [] synonym: "NFLS" EXACT [] xref: GARD:10714 xref: MESH:C548032 xref: NCI:C176941 xref: ORDO:137605 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:9002453 ! Cafe-au-Lait Spots created_by: mtutaj creation_date: 2023-10-23T10:39:25Z [Term] id: DOID:0070485 name: mitochondrial complex IV deficiency nuclear type 23 alt_id: DOID:9004597 def: "A cytochrome-c oxidase deficiency disease characterized by infantile onset encephalopathy that has_material_basis_in homozygous mutation in the COX11 gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36030551/ "DO"] synonym: "MC4DN23" EXACT [] xref: MIM:620275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease created_by: mtutaj creation_date: 2023-11-30T14:18:44Z [Term] id: DOID:0070486 name: Parkinson's disease 25 alt_id: DOID:9008253 def: "An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36073231/ "DO", https://pubmed.ncbi.nlm.nih.gov/37046398/ "DO"] synonym: "autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development" EXACT [] synonym: "PARK25" EXACT [] xref: MIM:620482 xref: MONDO:0957576 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2023-11-30T14:20:59Z [Term] id: DOID:0070487 name: dopamine transporter deficiency syndrome alt_id: DOID:9005014 def: "A movement disease characterized by parkinsonism-dystonia including tremor, progressive bradykinesia, and dystonic posturing that has_material_basis_in mutation in the SLC6A3 gene on chromosome 5p15.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37443770/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK442323/ "DO"] synonym: "DTDS" EXACT [] synonym: "Parkinsonism-Dystonia, Infantile" EXACT [] synonym: "PKDYS" EXACT [] xref: MESH:C567730 xref: MIM:PS613135 xref: NCI:C129866 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:14330 ! Parkinson's disease is_a: DOID:543 ! dystonia created_by: mtutaj creation_date: 2023-11-30T14:23:37Z [Term] id: DOID:0070488 name: atypical dopamine transporter deficiency syndrome def: "A dopamine transporter deficiency syndrome characterized by normal psychomotor development through early childhood and late childhood-to-adult onset of parkinsonism-dystonia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37443770/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK442323/ "DO"] synonym: "atypical DTDS" EXACT [] is_a: DOID:0070487 ! dopamine transporter deficiency syndrome created_by: mtutaj creation_date: 2023-11-30T14:28:07Z [Term] id: DOID:0070489 name: classic dopamine transporter deficiency syndrome alt_id: DOID:9005659 def: "A dopamine transporter deficiency syndrome characterized by infantile onset of chorea, dystonia, ballismus, and orolingual dyskinesia followed by progressive parkinsonism-dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the SLC6A3 gene on chromosome 5p15.33. Another distinct feature is an elevated homovanillic acid to hydroxyindoleacetic acid ratio in cerebrospinal fluid. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37443770/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK442323/ "DO"] synonym: "classic DTDS" EXACT [] synonym: "infantile parkinsonism-dystonia 1" EXACT [] synonym: "PKDYS1" EXACT [] xref: GARD:10484 xref: MIM:613135 xref: MONDO:0054835 xref: ORDO:238455 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070487 ! dopamine transporter deficiency syndrome created_by: mtutaj creation_date: 2023-11-30T14:30:00Z [Term] id: DOID:0070490 name: infantile parkinsonism-dystonia 2 alt_id: DOID:9009198 def: "A movement disease characterized by parkinsonism, dystonia, poor fine motor skills, and autonomic dysfunction including abnormal sweating, cold extremities, and poor sleep that has_material_basis_in homozygous mutation in the SLC18A2 gene on chromosome 10q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23363473/ "DO"] synonym: "ABNORMAL DENSE GRANULES" RELATED [] synonym: "brain dopamine-serotonin vesicular transport disease" EXACT [] synonym: "brain monoamine vesicular transport disease" EXACT [] synonym: "PKDYS2" EXACT [] xref: GARD:13594 xref: MIM:618049 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070487 ! dopamine transporter deficiency syndrome created_by: mtutaj creation_date: 2023-11-30T14:33:20Z [Term] id: DOID:0070491 name: mitochondrial complex IV deficiency nuclear type 1 alt_id: DOID:9007344 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10746561/ "DO"] synonym: "MC4DN1" EXACT [] xref: MIM:220110 xref: NCI:C176895 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:35:34Z [Term] id: DOID:0070492 name: mitochondrial complex IV deficiency nuclear type 3 alt_id: DOID:9005748 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX10 gene on chromosome 17p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10767350/ "DO", https://pubmed.ncbi.nlm.nih.gov/12928484/ "DO"] synonym: "MC4DN3" EXACT [] xref: MIM:619046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:37:53Z [Term] id: DOID:0070493 name: mitochondrial complex IV deficiency nuclear type 4 alt_id: DOID:9000822 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the SCO1 gene on chromosome 17p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11013136/ "DO", https://pubmed.ncbi.nlm.nih.gov/19295170/ "DO"] synonym: "MC4DN4" EXACT [] xref: MIM:619048 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:41:45Z [Term] id: DOID:0070494 name: mitochondrial complex IV deficiency nuclear type 7 alt_id: DOID:9003553 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX6B1 gene on chromosome 19q13.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18499082/ "DO", https://pubmed.ncbi.nlm.nih.gov/24781756/ "DO"] synonym: "MC4DN7" EXACT [] xref: MIM:619051 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:43:38Z [Term] id: DOID:0070495 name: mitochondrial complex IV deficiency nuclear type 8 alt_id: DOID:9007489 def: "A COX deficiency, benign infantile mitochondrial myopathy characterized by normal early development followed by the onset of slowly progressive decline in neurologic function in the first decade of life resulting in gait difficulties, spasticity, dysarthria, hypotonia, and variable intellectual disability that has_material_basis_in homozygous mutation in the TACO1 gene on chromosome 17q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20727754/ "DO"] synonym: "MC4DN8" EXACT [] xref: MIM:619052 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:47:56Z [Term] id: DOID:0070496 name: mitochondrial complex IV deficiency nuclear type 10 alt_id: DOID:9006390 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX14 gene on chromosome 12q13.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22243966/ "DO"] synonym: "MC4DN10" EXACT [] xref: MIM:619053 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:49:52Z [Term] id: DOID:0070497 name: mitochondrial complex IV deficiency nuclear type 11 alt_id: DOID:9000374 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX20 gene on chromosome 1q44. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24202787/ "DO", https://pubmed.ncbi.nlm.nih.gov/33751098/ "DO"] synonym: "MC4DN11" EXACT [] xref: MIM:619054 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:51:30Z [Term] id: DOID:0070498 name: mitochondrial complex IV deficiency nuclear type 12 alt_id: DOID:9006173 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET100 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24462369/ "DO"] synonym: "MC4DN12" EXACT [] xref: MIM:619055 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:52:57Z [Term] id: DOID:0070499 name: mitochondrial complex IV deficiency nuclear type 14 alt_id: DOID:9008434 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COA3 gene on chromosome 17q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25604084/ "DO"] synonym: "MC4DN14" EXACT [] xref: MIM:619058 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:54:48Z [Term] id: DOID:0070500 name: mitochondrial complex IV deficiency nuclear type 15 alt_id: DOID:9001092 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX8A gene on chromosome 11q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26685157/ "DO"] synonym: "MC4DN15" EXACT [] synonym: "MCDN15" EXACT [] xref: MIM:619059 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:56:07Z [Term] id: DOID:0070501 name: mitochondrial complex IV deficiency nuclear type 16 alt_id: DOID:9001257 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX4I1 gene on chromosome 16q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31290619/ "DO"] synonym: "MC4DN16" EXACT [] xref: MIM:619060 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:57:32Z [Term] id: DOID:0070502 name: mitochondrial complex IV deficiency nuclear type 17 alt_id: DOID:9001849 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA8 gene on chromosome 14q32.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25175347/ "DO"] synonym: "MC4DN17" EXACT [] xref: MIM:619061 xref: MONDO:0033652 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T14:58:54Z [Term] id: DOID:0070503 name: mitochondrial complex IV deficiency nuclear type 18 alt_id: DOID:9005386 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COX6A2 gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31155743/ "DO"] synonym: "MC4DN18" EXACT [] xref: MIM:619062 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:04:43Z [Term] id: DOID:0070504 name: mitochondrial complex IV deficiency nuclear type 19 alt_id: DOID:9006233 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the PET117 gene on chromosome 20p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28386624/ "DO"] synonym: "MC4DN19" EXACT [] xref: MIM:619063 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:06:32Z [Term] id: DOID:0070505 name: mitochondrial complex IV deficiency nuclear type 20 alt_id: DOID:9004621 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX5A gene on chromosome 15q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28247525/ "DO"] synonym: "MC4DN20" EXACT [] xref: MIM:619064 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:08:11Z [Term] id: DOID:0070506 name: mitochondrial complex IV deficiency nuclear type 21 alt_id: DOID:9004227 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the NDUFA4 gene on chromosome 7p21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23746447/ "DO"] synonym: "MC4DN21" EXACT [] xref: MIM:619065 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:12:03Z [Term] id: DOID:0070507 name: mitochondrial complex IV deficiency nuclear type 22 alt_id: DOID:9008899 def: "A COX deficiency, benign infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COX16 gene on chromosome 14q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33169484/ "DO"] synonym: "MC4DN22" EXACT [] xref: MIM:619355 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081377 ! COX deficiency, benign infantile mitochondrial myopathy created_by: mtutaj creation_date: 2023-11-30T15:15:11Z [Term] id: DOID:0070508 name: metabolic dysfunction and alcohol associated liver disease alt_id: DOID:9006944 alt_id: RDO:0005579 def: "A steatotic liver disease characterized by at least one of the five cardiometabolic risk factors for MASLD and alcohol consumption of 140-350g/week (females) or 210-420g/week (males). This disease is distinguished from MASLD by increased alcohol consumption and from ALD by the evidence of one or more of the MASLD cardiometabolic risk factors. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37364816/ "DO"] synonym: "Alcoholic Fatty Liver" EXACT [] synonym: "alcoholic steatohepatitis" EXACT [] synonym: "metabolic dysfunction and alcohol related liver disease" EXACT [] synonym: "MetALD" EXACT [] xref: MESH:D005235 is_a: DOID:9001285 ! Alcoholic Liver Diseases is_a: DOID:9452 ! steatotic liver disease created_by: mtutaj creation_date: 2023-11-30T15:18:29Z [Term] id: DOID:0070509 name: Schinzel Giedion syndrome alt_id: DOID:9001389 alt_id: MIM:269150 def: "An ectodermal dysplasia characterized by distinctive facial features, hydronephrosis, severe developmental delay, typical skeletal malformations, genital and cardiac anomalies, and increased tumor prevalence that has_material_basis_in heterozygous mutation in the SETBP1 gene on chromosome 18q12.3. (DO)" [https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/20436468/ "DO"] synonym: "Schinzel Giedion midface-retraction syndrome" EXACT [] synonym: "Schinzel-Giedion Syndrome" EXACT [] synonym: "SETBP1-RELATED CONDITION" BROAD [] synonym: "SETBP1-related disorder" BROAD [] synonym: "SGS" EXACT [] xref: GARD:117 xref: MESH:C536632 xref: NCI:C129308 xref: ORDO:798 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2023-12-20T20:37:16Z [Term] id: DOID:0070510 name: inflammatory poikiloderma with hair abnormalities and acral keratoses alt_id: DOID:9001883 def: "A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34999892/ "DO"] synonym: "IPHAK" EXACT [] synonym: "LIPHAK" EXACT [] synonym: "LIPHAK syndrome" EXACT [] xref: MIM:620199 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:421 ! hair disease is_a: DOID:9001946 ! Skin Abnormalities created_by: mtutaj creation_date: 2023-12-20T20:41:28Z [Term] id: DOID:0070511 name: polyhydramnios, megalencephaly, and symptomatic epilepsy alt_id: DOID:9006920 alt_id: MIM:611087 def: "A syndrome characterized by polyhydramnios, distinctive craniofacial features, infantile-onset epilepsy, hypotonia, macrocephaly, and global developmental delay that has_material_basis_in homozygous mutation in the STRADA gene on chromosome 17q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17522105/ "DO", https://pubmed.ncbi.nlm.nih.gov/33605605/ "DO"] synonym: "PMSE" EXACT [] synonym: "PMSE SYNDROME" EXACT [] synonym: "Pretzel syndrome" EXACT [] xref: GARD:12913 xref: MESH:C567020 xref: ORDO:500533 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:8488 ! polyhydramnios is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9008514 ! Psychomotor Disorders created_by: mtutaj creation_date: 2023-12-20T20:43:43Z [Term] id: DOID:0070512 name: neurodevelopmental disorder with hypotonia and speech delay alt_id: DOID:9001612 def: "A syndrome characterized by global developmental delay, impaired intellectual development with poor or absent speech, and fine and gross motor delay that has_material_basis_in heterozygous or compound heterozygous mutation in the EIF4A2 gene on chromosome 3q27.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36528028/ "DO"] synonym: "INTELLECTUAL DISABILITY WITH MUSCULAR SPASMS" NARROW [] synonym: "NEDHSS" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SPEECH DELAY, WITH OR WITHOUT SEIZURES" EXACT [] xref: MIM:620455 xref: MONDO:0957541 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2023-12-20T20:46:43Z [Term] id: DOID:0070513 name: neurodevelopmental disorder with dysmorphic facies and behavioral abnormalities def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the SRSF1 gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37071997/ "DO"] synonym: "NEDFBA" EXACT [] xref: MIM:620489 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2023-12-20T20:49:28Z [Term] id: DOID:0070514 name: neurodevelopmental disorder with dysmorphic facies and distal limb anomalies alt_id: DOID:9009097 def: "An autosomal dominant intellectual developmental disorder characterized by developmental delay, intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features that has_material_basis_in heterozygous mutation in the BPTF gene on chromosome 17q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28942966/ "DO", https://pubmed.ncbi.nlm.nih.gov/33522091/ "DO"] synonym: "NEDDFL" EXACT [] xref: MIM:617755 xref: MONDO:0060596 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2023-12-20T20:53:30Z [Term] id: DOID:0070515 name: chromosome 16p11.2 deletion syndrome, 593-kb alt_id: DOID:9006640 def: "A chromosomal deletion syndrome characterized by language delay and mild intellectual disability that has_material_basis_in partial deletion of a contiguous 593-kb region of chromosome 16p11.2 (chr16:29.5-30.1 Mb). (DO)" [https://pubmed.ncbi.nlm.nih.gov/19914906/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK11167/ "DO"] synonym: "16p11.2 deletion syndrome" EXACT [] synonym: "autism, susceptibility to, 14A" RELATED [] synonym: "AUTS14A" RELATED [] synonym: "Proximal 16p11.2 microdeletion syndrome" EXACT [] xref: GARD:10740 xref: MESH:C579850 xref: MIM:611913 xref: MONDO:0012756 xref: ORDO:261197 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder created_by: mtutaj creation_date: 2023-12-20T20:56:18Z [Term] id: DOID:0070516 name: Mitchell syndrome alt_id: DOID:9002088 def: "A peroxisomal disease characterized by progressive episodic demyelination, sensorimotor polyneuropathy, and hearing loss that has_material_basis_in heterozygous mutation in the ACOX1 gene on chromosome 17q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32169171/ "DO", https://pubmed.ncbi.nlm.nih.gov/37400800/ "DO"] synonym: "ACOX1-RELATED CONDITION" BROAD [] synonym: "ACOX1-RELATED DISORDER" BROAD [] synonym: "MITCH" EXACT [] xref: MIM:618960 xref: ORDO:631248 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5214 ! demyelinating polyneuropathy is_a: DOID:9004538 ! Hearing Loss is_a: DOID:906 ! peroxisomal disease created_by: mtutaj creation_date: 2023-12-20T20:59:58Z [Term] id: DOID:0070517 name: retinal macular dystrophy 2 alt_id: DOID:9002240 alt_id: MIM:608051 def: "A retinal macular dystrophy characterized by slowly progressive ''bull's eye'' maculopathy, mild visual impairment, and central scotomata that has_material_basis_in heterozygous mutation in the PROM1 gene on chromosome 4p15.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12657606/ "DO", https://pubmed.ncbi.nlm.nih.gov/20393116/ "DO"] synonym: "MCDR2" EXACT [] synonym: "retinal macular dystrophy type 2" EXACT [] xref: MESH:C562746 xref: ORDO:319640 is_a: DOID:0070438 ! retinal macular dystrophy created_by: mtutaj creation_date: 2024-01-31T10:41:35Z [Term] id: DOID:0070518 name: familial multiple lipomatosis alt_id: DOID:9000797 alt_id: MIM:151900 def: "A lipomatosis characterized by the development of numerous encapsulated lipomas on the extremities and trunk that has_material_basis_in autosomal dominant inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12516905/ "DO", https://pubmed.ncbi.nlm.nih.gov/32021365/ "DO"] synonym: "Adiposis Dolorosa Type III" EXACT [] synonym: "Dercum's Disease Type III" EXACT [] synonym: "Familial Multiple Lipoma" EXACT [] synonym: "Familial Multiple Lipomas" EXACT [] synonym: "Familial Multiple Lipomatoses" EXACT [] synonym: "FML" EXACT [] synonym: "LIPO" EXACT [] synonym: "Lipoma Dolorosa" EXACT [] synonym: "multiple lipomatosis" EXACT [] xref: GARD:12925 xref: MESH:D000071070 xref: ORDO:199276 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3153 ! lipomatosis is_a: DOID:3315 ! lipoma created_by: mtutaj creation_date: 2024-01-31T10:45:19Z [Term] id: DOID:0070519 name: early-onset vitamin B6-dependent epilepsy 4 def: "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29053735/ "DO", https://pubmed.ncbi.nlm.nih.gov/30043187/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1486/ "DO"] synonym: "AASA dehydrogenase deficiency" EXACT [] synonym: "antiquitin deficiency" EXACT [] synonym: "EPEO4" EXACT [] synonym: "PDE-ALDH7A1" EXACT [] xref: MIM:266100 is_a: DOID:0080768 ! pyridoxine-dependent epilepsy created_by: mtutaj creation_date: 2024-01-31T10:48:06Z [Term] id: DOID:0070520 name: peeling skin syndrome 1 alt_id: DOID:9002384 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CDSN gene on chromosome 6p21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20691404/ "DO", https://pubmed.ncbi.nlm.nih.gov/28584761 "DO"] synonym: "generalized inflammatory peeling skin syndrome" EXACT [] synonym: "inflammatory peeling skin syndrome" EXACT [] synonym: "peeling skin syndrome type B" EXACT [] synonym: "PSS1" EXACT [] xref: MIM:270300 xref: ORDO:263553 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T10:52:51Z [Term] id: DOID:0070521 name: peeling skin syndrome 2 alt_id: DOID:9002697 alt_id: MIM:609796 def: "A peeling skin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TGM5 gene on chromosome 15q15.2. (DO)" [https://medlineplus.gov/genetics/condition/peeling-skin-syndrome-2/ "DO", https://pubmed.ncbi.nlm.nih.gov/16380904/ "DO", https://pubmed.ncbi.nlm.nih.gov/22036214/ "DO"] synonym: "Acral peeling skin syndrome" EXACT [] synonym: "APSS" EXACT [] synonym: "localized peeling skin syndrome" BROAD [] synonym: "peeling skin syndrome, acral type" EXACT [] synonym: "PSS2" EXACT [] xref: GARD:12863 xref: MESH:C536316 xref: ORDO:263534 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T10:54:49Z [Term] id: DOID:0070522 name: peeling skin syndrome 3 alt_id: DOID:9008071 def: "A peeling skin syndrome that has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22289416/ "DO"] synonym: "peeling skin syndrome type A" BROAD [] synonym: "PSS3" EXACT [] xref: MIM:616265 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T10:56:03Z [Term] id: DOID:0070523 name: peeling skin syndrome 4 alt_id: DOID:9007796 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the CSTA gene on chromosome 3q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21944047/ "DO", https://pubmed.ncbi.nlm.nih.gov/23534700/ "DO"] synonym: "AREI" BROAD [] synonym: "autosomal recessive exfoliative ichthyosis" BROAD [] synonym: "exfoliative ichthyosis" BROAD [] synonym: "exfoliative ichthyosis, autosomal recessive, IBS-like" EXACT [] synonym: "exfoliative ichthyosis, autosomal recessive, ichthyosis bullosa of Siemens-like" EXACT [] synonym: "ichthyosis bullosa of Siemens-like" EXACT [] synonym: "PSS4" EXACT [] xref: MESH:C564309 xref: MIM:607936 xref: MONDO:0011937 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T10:57:42Z [Term] id: DOID:0070524 name: peeling skin syndrome 5 alt_id: DOID:9005907 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the SERPINB8 gene on chromosome 18q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27476651/ "DO"] synonym: "PSS5" EXACT [] xref: MIM:617115 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T11:00:34Z [Term] id: DOID:0070525 name: peeling skin syndrome 6 alt_id: DOID:9009226 def: "A peeling skin syndrome that has_material_basis_in homozygous mutation in the FLG2 gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29505760/ "DO", https://pubmed.ncbi.nlm.nih.gov/29758285/ "DO"] synonym: "peeling skin syndrome type A" BROAD [] synonym: "PSS6" EXACT [] xref: MIM:618084 is_a: DOID:0060283 ! peeling skin syndrome created_by: mtutaj creation_date: 2024-01-31T11:01:55Z [Term] id: DOID:0070526 name: PLACK syndrome alt_id: DOID:9005287 def: "An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25683118/ "DO"] synonym: "peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads" EXACT [] synonym: "PLACK" EXACT [] xref: MIM:616295 xref: ORDO:444138 is_a: DOID:0060283 ! peeling skin syndrome is_a: DOID:161 ! keratosis is_a: DOID:1762 ! cheilitis is_a: DOID:9008749 ! Leukonychia Totalis created_by: mtutaj creation_date: 2024-01-31T11:04:08Z [Term] id: DOID:0070527 name: Borrelia miyamotoi disease def: "A primary bacterial infectious disease that has_material_basis_in Borrelia miyamotoi, which is transmitted_by the blacklegged tick (Ixodes scapularis), the western blacklegged tick (Ixodes pacificus), the taiga tick (Ixodes persulcatus), or the castor bean tick (Ixodes ricinus). The infection has_symptom fever, headache, chills, muscle pain, joint pain, asthenia, fatigue and nausea, and rarely relapses. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36113496/ "DO", https://pubmed.ncbi.nlm.nih.gov/36839539 "DO"] synonym: "BMD" EXACT [] synonym: "hard tick-borne relapsing fever" EXACT [] is_a: DOID:13034 ! relapsing fever is_a: DOID:9004477 ! Borrelia Infections created_by: mtutaj creation_date: 2024-01-31T11:09:34Z [Term] id: DOID:0070528 name: cepacia syndrome def: "An opportunistic bacterial infectious disease characterized by necrotizing pneumonia, acute respiratory distress syndrome, and bacteremia that has_material_basis_in Burkholderia cepacia complex, which is transmitted_by contact transmission, droplet spread transmission, vehicle-borne fomite transmission, and vehicle-borne ingestion transmission. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15463897/ "DO", https://pubmed.ncbi.nlm.nih.gov/33214785/ "DO", https://pubmed.ncbi.nlm.nih.gov/36815622/ "DO", https://www.cdc.gov/hai/organisms/bcepacia.html "DO"] is_a: DOID:0050340 ! opportunistic bacterial infectious disease created_by: mtutaj creation_date: 2024-01-31T11:15:04Z [Term] id: DOID:0070529 name: Sifrim-Hitz-Weiss syndrome alt_id: DOID:9008154 def: "An autosomal dominant intellectual developmental disorder that is characterized by developmental delay, speech delay, usually mild-to-moderate intellectual disability, and variable congenital anomalies in other systems and that has_material_basis_in heterozygous mutation in the CHD4 gene on chromosome 12p13.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27479907/ "DO", https://pubmed.ncbi.nlm.nih.gov/27616479/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK561516/ "DO"] synonym: "CHD4 Neurodevelopmental Disorder" EXACT [] synonym: "CHD4-RELATED DISORDER" EXACT [] synonym: "CHD4-related neurodevelopmental disorder" EXACT [] synonym: "CHD4-related neurodevelopmental syndrome" EXACT [] synonym: "SIFRIM-HITZ-WEISS MULTIPLE CONGENITAL ANOMALIES-MENTAL RETARDATION SYNDROME" EXACT [] synonym: "SIHIWES" EXACT [] xref: MIM:617159 xref: NCI:C201595 xref: ORDO:653712 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2024-01-31T11:16:29Z [Term] id: DOID:0070530 name: foveal hypoplasia 1 alt_id: DOID:9003088 def: "A retinal disease characterized by foveal hypoplasia with decreased visual acuity, nystagmus and lack of aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [https://disorders.eyes.arizona.edu/category/alternate-names/odonnell-pappas-syndrome "DO", https://eyewiki.org/Foveal_Hypoplasia "DO", https://pubmed.ncbi.nlm.nih.gov/12721955/ "DO", https://pubmed.ncbi.nlm.nih.gov/24290379/ "DO", https://pubmed.ncbi.nlm.nih.gov/7065945/ "DO"] synonym: "FOVEAL HYPOPLASIA 1 WITH CATARACT" NARROW [] synonym: "FOVEAL HYPOPLASIA 1 WITH OR WITHOUT ANTERIOR SEGMENT ANOMALIES" EXACT [] synonym: "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" EXACT [] synonym: "FOVEAL HYPOPLASIA AND CATARACT" NARROW [] synonym: "Foveal Hypoplasia and Presenile Cataract Syndrome" EXACT [] synonym: "Foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts" EXACT [] synonym: "foveal hypoplasia, presenile cataract" EXACT [] synonym: "foveal hypoplasia-presenile cataract syndrome" NARROW [] synonym: "foveal hypoplasia with or without anterior segment anomalies" EXACT [] synonym: "FVH1" EXACT [] synonym: "O'Donnell-Pappas syndrome" EXACT [] xref: MESH:C537858 xref: MIM:136520 xref: MONDO:0007628 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy is_a: DOID:5679 ! retinal disease is_a: DOID:83 ! cataract is_a: DOID:9001923 ! Foveal Hypoplasia created_by: mtutaj creation_date: 2024-01-31T11:19:30Z [Term] id: DOID:0070531 name: foveal hypoplasia 2 alt_id: DOID:9005271 alt_id: MIM:609218 def: "A retinal disease characterized by foveal hypoplasia with decreased visual acuity and nystagmus that has_material_basis_in homozygous or compound heterozygous mutation in the SLC38A8 gene on chromosome 16q23.3. Optic nerve decussation defects and anterior segment dysgenesis are also frequently seen. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24045842/ "DO", https://pubmed.ncbi.nlm.nih.gov/24290379/ "DO", https://pubmed.ncbi.nlm.nih.gov/33498813/ "DO"] synonym: "FHONDA" EXACT [] synonym: "FHONDA syndrome" NARROW [] synonym: "FOVEAL HYPOPLASIA 2 AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS" EXACT [] synonym: "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE DECUSSATION DEFECTS AND ANTERIOR SEGMENT DYSGENESIS WITHOUT ALBINISM" NARROW [] synonym: "FOVEAL HYPOPLASIA 2 WITH OPTIC NERVE MISROUTING AND ANTERIOR SEGMENT DYSGENESIS" NARROW [] synonym: "FOVEAL HYPOPLASIA 2 WITH OR WITHOUT OPTIC NERVE MISROUTING AND/OR ANTERIOR SEGMENT DYSGENESIS" EXACT [] synonym: "Foveal Hypoplasia and Anterior Segment Dysgenesis" EXACT [] synonym: "FOVEAL HYPOPLASIA AND OPTIC NERVE MISROUTING WITH OR WITHOUT ANTERIOR SEGMENT DYSGENESIS" EXACT [] synonym: "foveal hypoplasia, optic nerve decussation defects, and anterior segment dysgenesis" NARROW [] synonym: "FVH2" EXACT [] xref: MESH:C563774 xref: ORDO:397618 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease is_a: DOID:9001923 ! Foveal Hypoplasia is_a: DOID:9008296 ! Eye Abnormalities created_by: mtutaj creation_date: 2024-01-31T11:24:31Z [Term] id: DOID:0070532 name: aniridia 1 alt_id: DOID:9002455 def: "An aniridia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. Additional ocular anomalies are also common. (DO)" [https://eyewiki.org/Aniridia "DO", https://pubmed.ncbi.nlm.nih.gov/12721955/ "DO"] synonym: "AN1" EXACT [] synonym: "AN2, formerly" RELATED [] synonym: "aniridia 2, formerly" RELATED [] synonym: "aniridia II, formerly" RELATED [] synonym: "aniridia type 2, formerly" RELATED [] synonym: "CATARACTS, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY" EXACT [] xref: MESH:C536372 xref: MIM:106210 xref: MONDO:0024507 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12271 ! aniridia is_a: DOID:2566 ! corneal dystrophy is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2024-01-31T11:27:45Z [Term] id: DOID:0070533 name: long QT syndrome 16 alt_id: DOID:9007211 def: "A long QT syndrome characterized by perinatal onset of markedly prolonged corrected QT (QTc) interval, 2:1 atrioventricular (AV) block, and bradycardia or ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CALM3 gene on chromosome 19q13.32. Syncope, cardiac arrest, and sudden death are common. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25460178/ "DO", https://pubmed.ncbi.nlm.nih.gov/31454269/ "DO"] synonym: "catecholaminergic polymorphic ventricular tachycardia 6" NARROW [] synonym: "CPVT6" NARROW [] synonym: "LQT16" EXACT [] xref: MIM:618782 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060674 ! catecholaminergic polymorphic ventricular tachycardia is_a: DOID:2843 ! long QT syndrome created_by: mtutaj creation_date: 2024-02-28T16:22:18Z [Term] id: DOID:0070534 name: arrhythmogenic left ventricular cardiomyopathy def: "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty left ventricular myocardium and ventricular arrhythmias with a right bundle branch block pattern, with limited to no involvement of the right ventricle. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31637441/ "DO"] synonym: "ALVC" EXACT [] synonym: "left-dominant arrhythmogenic cardiomyopathy" EXACT [] synonym: "left ventricular ACM" EXACT [] xref: ORDO:293888 is_a: DOID:0060036 ! intrinsic cardiomyopathy created_by: mtutaj creation_date: 2024-02-28T16:25:06Z [Term] id: DOID:0070535 name: arrhythmogenic biventricular cardiomyopathy def: "An intrinsic cardiomyopathy characterized by hypokinetic, non-dilated, fibrotic or fibrofatty replacement in both the left and right ventricular myocardium, with ventricular arrhythmias with left and right bundle branch block patterns. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31637441/ "DO"] synonym: "biventricular ACM" EXACT [] xref: ORDO:293899 is_a: DOID:0060036 ! intrinsic cardiomyopathy created_by: mtutaj creation_date: 2024-02-28T16:31:10Z [Term] id: DOID:0070536 name: neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures alt_id: DOID:9006904 def: "An autosomal dominant intellectual developmental disorder characterized by behavioral abnormalities and developmental delay ranging from mild-to-moderate impaired intellectual development with expressive language delay to severly impaired intellectual development, severe hypotonia with delayed walking or inability to walk, and poor or absent speech that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34163037/ "DO"] synonym: "NEDHLSS" EXACT [] xref: MIM:620029 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:0080001 ! bone disease is_a: DOID:1826 ! epilepsy is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2024-02-28T16:34:44Z [Term] id: DOID:0070537 name: spastic tetraplegia, thin corpus callosum, and progressive microcephaly alt_id: DOID:9004845 def: "An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25930971/ "DO", https://pubmed.ncbi.nlm.nih.gov/26138499/ "DO"] synonym: "SPATCCM" EXACT [] xref: GARD:13425 xref: MIM:616657 xref: ORDO:447997 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:10907 ! microcephaly is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9001999 ! Agenesis of Corpus Callosum created_by: mtutaj creation_date: 2024-02-28T16:38:08Z [Term] id: DOID:0070538 name: syndromic X-linked intellectual developmental disorder Bain type alt_id: DOID:9008950 def: "A syndromic X-linked syndromic intellectual disability characterized by delayed psychomotor development, impaired intellectual development with behavioral abnormalities, and musculoskeletal and growth abnormalities that has_material_basis_in heterozygous mutation in the HNRNPH2 gene on chromosome Xq22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27545675/ "DO", https://pubmed.ncbi.nlm.nih.gov/37372334/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK584018/ "DO"] synonym: "Bain type of X-linked syndromic mental retardation" EXACT [] synonym: "HNRNPH2-related neurodevelopmental disorder" EXACT [] synonym: "HNRNPH2-RNDD" EXACT [] synonym: "Mental Retardation, X-linked, Syndrome, Bain Type" EXACT [] synonym: "MRXSB" EXACT [] synonym: "syndromic X-linked mental retardation, Bain type" EXACT [] xref: GARD:13442 xref: MIM:300986 xref: NCI:C183311 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2024-02-28T16:41:03Z [Term] id: DOID:0070539 name: Halperin-Birk syndrome alt_id: DOID:9004325 def: "A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30464055/ "DO"] synonym: "HLBKS" EXACT [] synonym: "NEDSOSB" EXACT [] synonym: "neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies" EXACT [] xref: EFO:0010662 xref: MIM:618651 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2024-04-01T11:20:47Z [Term] id: DOID:0070540 name: mitochondrial short-chain enoyl-CoA hydratase 1 deficiency alt_id: DOID:9003746 def: "A mitochondrial metabolism disease characterized by a spectrum of phenotypes including delayed psychomotor development, neurodegeneration, increased lactic acid, brain lesions in the basal ganglia, and dystonia that has material basis in homozygous or compound heterozygous mutation in the ECHS1 gene on chromosome 10q26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25125611/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK542806/ "DO"] synonym: "ECHS1D" EXACT [] synonym: "ECHS1-RELATED CONDITION" EXACT [] xref: GARD:13019 xref: MIM:616277 xref: MONDO:0014563 xref: NCI:C174218 xref: ORDO:653880 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:3652 ! Leigh disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:02:44Z [Term] id: DOID:0070541 name: 3-hydroxy-3-methylglutaryl-CoA lyase deficiency alt_id: DOID:9006234 def: "An amino acid metabolic disorder characterized by metabolic acidosis without ketonuria, hypoglycemia, and a characteristic pattern of elevated urinary organic acid metabolites, including 3-hydroxy-3-methylglutaric, 3-methylglutaric, and 3-hydroxyisovaleric acids that has_material_basis_in homozygous or compound heterozygous mutation in the HMGCL gene on chromosome 1p36.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3128690/ "DO"] synonym: "3-hydroxy 3-methyl glutaric aciduria" EXACT [] synonym: "3-hydroxy-3-methylglutaric aciduria" EXACT [] synonym: "3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency" EXACT [] synonym: "3-Hydroxyl 3-Methyl Glutaric Aciduria" EXACT [] synonym: "Deficiency of Hydroxymethylglutaryl-CoA Lyase" EXACT [] synonym: "HL DEFICIENCY" EXACT [] synonym: "HMGCLD" EXACT [] synonym: "HMGCL deficiency" EXACT [] synonym: "HMG CoA lyase deficiency" EXACT [] synonym: "hydroxymethylglutaric aciduria" EXACT [] xref: GARD:8387 xref: MESH:C538324 xref: MIM:246450 xref: MONDO:0009520 xref: NCI:C84523 xref: ORDO:20 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:07:45Z [Term] id: DOID:0070542 name: neurodevelopmental disorder with spastic paraplegia and microcephaly alt_id: DOID:9002164 def: "An amino acid metabolic disorder characterized delayed psychomotor development with delayed walking, moderately to severely impaired intellectual development, and poor or absent speech that has_material_basis_in homozygous or compound heterozygous mutation in the GPT2 gene on chromosome 16q11.2. Postnatal microcephaly and spastic paraplegia are also common. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29882329/ "DO", https://pubmed.ncbi.nlm.nih.gov/31471722/ "DO"] synonym: "autosomal recessive mental retardation 49" EXACT [] synonym: "glutamate pyruvate transaminase 2 deficiency" EXACT [] synonym: "GPT2 deficiency" EXACT [] synonym: "GPT2-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "MRT49" EXACT [] synonym: "NEDSPM" EXACT [] xref: MIM:616281 xref: MONDO:0014567 xref: ORDO:477673 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:17:40Z [Term] id: DOID:0070543 name: neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities alt_id: DOID:9001963 def: "An mitochondrial metabolism disease characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, spasticity of the lower limbs resulting in gait difficulties, and progressive hypertrophic cardiomyopathy or cardiac developmental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SHMT2 gene on chromosome 12q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33015733/ "DO"] synonym: "NEDCASB" EXACT [] synonym: "SHMT2-RELATED CONDITION" EXACT [] xref: MIM:619121 xref: MONDO:0030866 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:23:01Z [Term] id: DOID:0070544 name: congenital glutamine deficiency alt_id: DOID:9008125 def: "An amino acid metabolic disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities that has_material_basis_in homozygous mutation in the GLUL gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21353613/ "DO"] synonym: "GLND" EXACT [] synonym: "Glutamine synthase deficiency, congenital systemic" EXACT [] synonym: "Glutamine synthetase deficiency, congenital systemic" EXACT [] xref: GARD:9848 xref: MESH:C536832 xref: MIM:610015 xref: MONDO:0012393 xref: ORDO:71278 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:26:08Z [Term] id: DOID:0070545 name: developmental and epileptic encephalopathy 116 alt_id: DOID:9006440 def: "A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38579670/ "DO"] synonym: "DEE116" EXACT [] synonym: "GLUTAMINE SYNTHETASE STABILIZATION DISORDER" EXACT [] xref: MIM:620806 xref: MONDO:0970945 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-06-21T10:30:34Z [Term] id: DOID:0070546 name: primary pigmented nodular adrenocortical disease 1 alt_id: DOID:9005321 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PRKAR1A gene on chromosome 17q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12213893/ "DO"] synonym: "adrenal Cushing syndrome, due to PPNAD1" EXACT [] synonym: "Adrenocortical Nodular Dysplasia, Primary" EXACT [] synonym: "Pigmented Micronodular Adrenocortical Disease, Primary, 1" EXACT [] synonym: "PPNAD1" EXACT [] xref: MESH:C566469 xref: MIM:610489 xref: MONDO:0012509 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease created_by: mtutaj creation_date: 2024-06-28T16:35:03Z [Term] id: DOID:0070547 name: primary pigmented nodular adrenocortical disease 2 alt_id: DOID:9002348 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE11A gene on chromosome 2q31.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16767104/ "DO"] synonym: "adrenal Cushing syndrome, due to PPNAD2" EXACT [] synonym: "PDE11A-RELATED CONDITION" EXACT [] synonym: "Pigmented Micronodular Adrenocortical Disease, Primary, 2" EXACT [] synonym: "PPNAD2" EXACT [] xref: MESH:C566472 xref: MIM:610475 xref: MONDO:0012505 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease created_by: mtutaj creation_date: 2024-06-28T16:38:18Z [Term] id: DOID:0070548 name: primary pigmented nodular adrenocortical disease 3 alt_id: DOID:9005327 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in heterozygous mutation in the PDE8B gene on chromosome 5q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18272904/ "DO"] synonym: "adrenal Cushing syndrome, due to PPNAD3" EXACT [] synonym: "PPNAD3" EXACT [] xref: MIM:614190 xref: MONDO:0013616 is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease created_by: mtutaj creation_date: 2024-06-28T16:42:12Z [Term] id: DOID:0070549 name: primary pigmented nodular adrenocortical disease 4 alt_id: DOID:9006355 def: "A primary pigmented nodular adrenocortical disease that has_material_basis_in duplication on chromosome 19p13 that includes the PRKACA gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24571724 "DO", https://pubmed.ncbi.nlm.nih.gov/25924874/ "DO"] synonym: "adrenal Cushing syndrome, due to PPNAD4" EXACT [] synonym: "chromosome 19p13 duplication syndrome" EXACT [] synonym: "PPNAD4" EXACT [] xref: MIM:615830 xref: MONDO:0014359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060280 ! primary pigmented nodular adrenocortical disease created_by: mtutaj creation_date: 2024-06-28T16:42:25Z [Term] id: DOID:0070550 name: KRT1-related nonepidermolytic palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12406346/ "DO", https://pubmed.ncbi.nlm.nih.gov/7528239/ "DO"] synonym: "KRT1-related NEPPK" EXACT [] xref: GARD:5186 xref: MIM:600962 xref: ORDO:530838 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma created_by: mtutaj creation_date: 2024-06-28T16:49:42Z [Term] id: DOID:0070551 name: epidermolytic palmoplantar keratoderma 2 alt_id: DOID:9006539 def: "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11286630/ "DO", https://pubmed.ncbi.nlm.nih.gov/37122192/ "DO"] synonym: "EPPK2" EXACT [] xref: MIM:620411 xref: MONDO:0957303 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma created_by: mtutaj creation_date: 2024-06-28T16:57:29Z [Term] id: DOID:0070552 name: epidermolytic palmoplantar keratoderma 1 alt_id: DOID:9007353 def: "An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12192490/ "DO", https://pubmed.ncbi.nlm.nih.gov/30666268 "DO"] synonym: "Epidermolytic Palmoplantar Keratoderma, with Knuckle Pads" EXACT [] synonym: "EPPK1" EXACT [] synonym: "KERATOSIS OF GREITHER" RELATED [] xref: MESH:C564171 xref: MIM:144200 xref: MONDO:0007758 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma created_by: mtutaj creation_date: 2024-06-28T17:01:34Z [Term] id: DOID:0070553 name: focal palmoplantar and gingival keratosis alt_id: DOID:9008814 def: "A palmoplantar keratosis characterized by hyperkeratosis on the weight-bearing areas of the soles, pressure-related areas of the palms, and the labial- and lingual-attached gingiva. (DO)" [https://pubmed.ncbi.nlm.nih.gov/133736/ "DO", https://pubmed.ncbi.nlm.nih.gov/15761417/ "DO", https://pubmed.ncbi.nlm.nih.gov/33262878/ "DO"] synonym: "focal palmoplantar and gingival hyperkeratosis syndrome" EXACT [] synonym: "focal palmoplantar and oral mucosa hyperkeratosis" EXACT [] synonym: "keratosis, focal, palmoplantar, gingival" EXACT [] xref: GARD:3098 xref: MESH:C536157 xref: MIM:148730 xref: MONDO:0007860 xref: ORDO:2200 is_a: DOID:1483 ! gingival disease is_a: DOID:3390 ! palmoplantar keratosis created_by: mtutaj creation_date: 2024-06-28T17:06:52Z [Term] id: DOID:0070554 name: palmoplantar keratoderma and woolly hair alt_id: DOID:9005974 alt_id: DOID:9007018 def: "A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24671081/ "DO", https://pubmed.ncbi.nlm.nih.gov/35283492 "DO"] synonym: "keratoderma with woolly hair type IV" EXACT [] synonym: "PPKWH" EXACT [] synonym: "SFWHS" EXACT [] synonym: "Skin Fragility-Woolly Hair Syndrome" EXACT [] synonym: "woolly hair-palmoplantar keratoderma syndrome type 4" EXACT [] xref: MESH:C564359 xref: MIM:616099 xref: MONDO:0014492 xref: ORDO:420686 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111572 ! familial woolly hair syndrome created_by: mtutaj creation_date: 2024-06-28T17:14:13Z [Term] id: DOID:0070555 name: Nagashima-type palmoplantar keratosis alt_id: DOID:9000205 def: "A nonepidermolytic palmoplantar keratoderma characterized by mild, well-demarcated, diffuse erythematous hyperkeratosis that is nonprogressive after the second decade of life which extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area, with a high frequency of hyperhidrosis on the palms and soles and without flexion contractures or constricting bands that has_material_basis_in homozygous or compound heterozygous mutation in the SERPINB7 gene on chromosome 18q21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24207119/ "DO", https://pubmed.ncbi.nlm.nih.gov/24773080/ "DO", https://pubmed.ncbi.nlm.nih.gov/35178744/ "DO"] synonym: "NPPK" EXACT [] synonym: "palmoplantar keratoderma Nagashima type" EXACT [] synonym: "PPKN" EXACT [] synonym: "SERPINB7-RELATED CONDITION" EXACT [] xref: MIM:615598 xref: MONDO:0014272 xref: ORDO:140966 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma created_by: mtutaj creation_date: 2024-07-01T08:54:42Z [Term] id: DOID:0070556 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1 alt_id: DOID:9002943 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the VLDLR gene, which encodes the very low density lipoprotein receptor, on chromosome 9p24.2. (DO)" [https://medlineplus.gov/genetics/condition/vldlr-associated-cerebellar-hypoplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/21885617/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1874/ "DO"] synonym: "CAMRQ1" EXACT [] synonym: "CAMRQ syndrome 1" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 1" EXACT [] synonym: "cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 1" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 1" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1" EXACT [] synonym: "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1 (CAMRQ1)" EXACT [] synonym: "cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1" EXACT [] synonym: "CHMRQ1" EXACT [] synonym: "Des-Vldlr" EXACT [] synonym: "dysequilibrium syndrome-VLDLR" EXACT [] synonym: "VLDLR-associated cerebellar hypoplasia" EXACT [] synonym: "VLDLR Cerebellar Hypoplasia" EXACT [] synonym: "VLDLR-CH" EXACT [] synonym: "VLDLRCH" EXACT [] xref: MIM:224050 xref: MONDO:0024542 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome created_by: mtutaj creation_date: 2024-07-31T15:14:40Z [Term] id: DOID:0070557 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 2 alt_id: DOID:9006893 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the WDR81 gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21885617/ "DO", https://pubmed.ncbi.nlm.nih.gov/22686558/ "DO"] synonym: "CAMRQ2" EXACT [] synonym: "CAMRQ syndrome 2" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 2" EXACT [] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" EXACT [] xref: MESH:C567656 xref: MIM:610185 xref: MONDO:0012430 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome created_by: mtutaj creation_date: 2024-07-31T15:17:44Z [Term] id: DOID:0070558 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 3 alt_id: DOID:9005300 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous mutation in the CA8 gene on chromosome 8q12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19461874/ "DO", https://pubmed.ncbi.nlm.nih.gov/32808436/ "DO", https://pubmed.ncbi.nlm.nih.gov/38581205/ "DO"] synonym: "CAMRQ3" EXACT [] synonym: "CAMRQ syndrome 3" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 3" EXACT [] synonym: "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 3" EXACT [] xref: MESH:C567690 xref: MIM:613227 xref: MONDO:0013188 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome created_by: mtutaj creation_date: 2024-08-02T09:27:15Z [Term] id: DOID:0070559 name: cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome 4 alt_id: DOID:9006313 def: "A cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATP8A2 gene on chromosome 13q12.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22892528/ "DO", https://pubmed.ncbi.nlm.nih.gov/31612321/ "DO"] synonym: "CAMRQ4" EXACT [] synonym: "CAMRQ syndrome 4" EXACT [] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" EXACT [] synonym: "cerebellar ataxia, mental retardation, and disequilibrium syndrome 4" EXACT [] synonym: "Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 4" EXACT [] xref: MIM:615268 xref: MONDO:0014104 is_a: DOID:0050997 ! cerebellar ataxia, impaired intellectual development, and dysequilibrium syndrome created_by: mtutaj creation_date: 2024-08-02T09:29:01Z [Term] id: DOID:0070560 name: glucose transporter type 1 deficiency syndrome alt_id: DOID:9007802 def: "A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 on chromosome 1p34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31605543/ "DO", https://pubmed.ncbi.nlm.nih.gov/36315575/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO"] synonym: "Glucose transport defect, blood-brain barrier" EXACT [] synonym: "Glucose Transporter Protein Syndrome" EXACT [] synonym: "Glucose transporter type1 (GLUT-1) deficiency" EXACT [] synonym: "Glucose Transporter Type 1 Deficiency Syndrome" EXACT [] synonym: "GLUT1 Deficiency Syndrome" EXACT [] synonym: "GLUT1DS" EXACT [] synonym: "PROGRESSIVE EXTRAPYRAMIDAL MOVEMENT DISORDER" EXACT [] xref: MESH:C536830 xref: MIM:PS606777 xref: MONDO:0000188 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:4194 ! glucose metabolism disease created_by: mtutaj creation_date: 2024-08-02T09:31:34Z [Term] id: DOID:0070561 name: glucose transporter type 1 deficiency syndrome 1 def: "A glucose transporter type 1 deficiency syndrome characterized by infantile-onset epileptic encephalopathy associated with delayed development, acquired microcephaly, and complex movement disorders. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36315575/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO"] synonym: "classic glucose transporter type 1 deficiency syndrome" EXACT [] synonym: "classic GLUT1 deficiency syndrome" EXACT [] synonym: "classic GLUT1-DS" EXACT [] synonym: "De Vivo disease" EXACT [] synonym: "Encephalopathy Due To Glut1 Deficiency" EXACT [] synonym: "GLUT1 deficiency syndrome 1" EXACT [] synonym: "GLUT1 deficiency syndrome 1, autosomal recessive" NARROW [] synonym: "GLUT1DS1" EXACT [] xref: EFO:0009139 xref: GARD:9265 xref: MIM:606777 xref: MONDO:0011724 xref: NCI:C168599 xref: ORDO:71277 is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome created_by: mtutaj creation_date: 2024-08-02T09:36:50Z [Term] id: DOID:0070562 name: Fanconi-Bickel syndrome def: "A glucose metabolism disease characterized by hepatorenal glycogen accumulation, proximal renal tubular dysfunction, and impaired utilization of glucose and galactose that has_material_basis_in homozygous or compound heterozygous mutations in the SLC2A2 gene on chromosome 3q26.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3153325/ "DO"] synonym: "Fanconi Type Glycogenosis" EXACT [] synonym: "FBS" EXACT [] synonym: "glycogenosis type XI" EXACT [] synonym: "glycogen storage disease XI" RELATED [] xref: GARD:2268 xref: MIM:227810 xref: NCI:C168998 xref: ORDO:2088 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4194 ! glucose metabolism disease created_by: mtutaj creation_date: 2024-08-02T09:49:42Z [Term] id: DOID:0070563 name: glucose-galactose malabsorption alt_id: DOID:9001750 def: "A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20486940/ "DO"] synonym: "Carbohydrate Intolerance" EXACT [] synonym: "Complex Carbohydrate Intolerance" EXACT [] synonym: "CONGENITAL GLUCOSE-GALACTOSE MALABSORPTION" EXACT [] synonym: "GGM" EXACT [] synonym: "GM" EXACT [] synonym: "monosaccharide malabsorption" EXACT [] synonym: "SGLT1 deficiency" EXACT [] xref: GARD:6521 xref: MESH:C562602 xref: MIM:606824 xref: MONDO:0011731 xref: ORDO:35710 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4194 ! glucose metabolism disease is_a: DOID:9002984 ! Malabsorption Syndromes created_by: mtutaj creation_date: 2024-08-02T10:04:12Z [Term] id: DOID:0070564 name: dialysis disequilibrium syndrome def: "A syndrome that occurs during or after hemodialysis, or rarely continuous renal replacement therapy, characterized by variable, primarily neurological symptoms including headache, nausea, blurred vision, restlessness, confusion, dizziness, muscle cramps, intraocular pressure and, in severe cases, seizures, somnolence, stupor, or coma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26120445 "DO", https://www.ncbi.nlm.nih.gov/books/NBK559018/ "DO"] synonym: "dialysis dysequilibrium syndrome" EXACT [] xref: NCI:C114781 is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2024-08-29T18:34:30Z [Term] id: DOID:0070565 name: spermatogenic failure 66 alt_id: DOID:9000088 def: "A spermatogenic failure characterized by total globozoospermia that has_material_basis_in homozygous mutation in the ZPBP gene on chromosome 7p12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO"] synonym: "SPGF66" EXACT [] xref: MIM:619799 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia created_by: mtutaj creation_date: 2024-08-29T18:36:15Z [Term] id: DOID:0070566 name: spermatogenic failure 67 alt_id: DOID:9001970 def: "A spermatogenic failure characterized by globozoospermia that has_material_basis_in homozygous mutation in the CCDC62 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO"] synonym: "SPGF67" EXACT [] xref: MIM:619803 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia created_by: mtutaj creation_date: 2024-08-29T18:39:14Z [Term] id: DOID:0070567 name: spermatogenic failure 68 alt_id: DOID:9000182 def: "A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the C2CD6 gene on chromosome 2q33.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO"] synonym: "SPGF68" EXACT [] xref: MIM:619805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:41:17Z [Term] id: DOID:0070568 name: spermatogenic failure 69 alt_id: DOID:9002042 def: "A spermatogenic failure characterized by partial globozoospermia that has_material_basis_in homozygous mutation in the GGN on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO", https://pubmed.ncbi.nlm.nih.gov/33108537/ "DO"] synonym: "SPGF69" EXACT [] xref: MIM:619826 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:42:59Z [Term] id: DOID:0070569 name: spermatogenic failure 70 alt_id: DOID:9001327 def: "A spermatogenic failure characterized by azoospermia or sperm immotility and necrozoospermia that has_material_basis_in homozygous mutation in the PDHA2 gene on chromosome 4q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29581481/ "DO", https://pubmed.ncbi.nlm.nih.gov/35172124/ "DO"] synonym: "SPGF70" EXACT [] xref: MIM:619828 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:44:37Z [Term] id: DOID:0070570 name: spermatogenic failure 71 alt_id: DOID:9004400 def: "A spermatogenic failure characterized by nonobstructive azoospermia that has_material_basis_in homozygous mutation in the ZSWIM7 gene on chromosome 17p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32719396/ "DO", https://pubmed.ncbi.nlm.nih.gov/33713115/ "DO"] synonym: "SPGF71" EXACT [] xref: MIM:619831 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:45:49Z [Term] id: DOID:0070571 name: spermatogenic failure 72 alt_id: DOID:9005229 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in lack of sperm motility, that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32323121/ "DO"] synonym: "SPGF72" EXACT [] xref: MIM:619867 xref: MONDO:0030809 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:47:28Z [Term] id: DOID:0070572 name: spermatogenic failure 73 alt_id: DOID:9004961 def: "A spermatogenic failure characterized by nonobstructive azoospermia due to meiotic arrest that has_material_basis_in homozygous or compound heterozygous mutation in the MOV10L1 gene on chromosome 22q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35476666/ "DO"] synonym: "SPGF73" EXACT [] xref: MIM:619878 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:48:49Z [Term] id: DOID:0070573 name: spermatogenic failure 74 alt_id: DOID:9002151 def: "A spermatogenic failure characterized by nonobstructive azoospermia due to complete meiotic arrest at the spermatocyte zygotene or pachytene stage that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34755185/ "DO"] synonym: "SPGF74" EXACT [] xref: MIM:619937 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:50:06Z [Term] id: DOID:0070574 name: spermatogenic failure 75 alt_id: DOID:9003010 def: "A spermatogenic failure characterized by nonobstructive azoospermia resulting from maturation arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the SHOC1 gene on chromosome 9q31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32741963/ "DO", https://pubmed.ncbi.nlm.nih.gov/32900840/ "DO"] synonym: "SPGF75" EXACT [] xref: MIM:619949 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:51:25Z [Term] id: DOID:0070575 name: spermatogenic failure 76 alt_id: DOID:9002551 def: "A spermatogenic failure characterized by oligoasthenoteratozoospermia that has_material_basis_in homozygous mutation in the CCDC34 gene on chromosome 11p14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34348960/ "DO", https://pubmed.ncbi.nlm.nih.gov/38856307/ "DO"] synonym: "SPGF76" EXACT [] xref: MIM:620084 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:52:30Z [Term] id: DOID:0070576 name: spermatogenic failure 77 alt_id: DOID:9005311 def: "A spermatogenic failure characterized by extreme oligozoospermia or azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP6 gene on chromosome 7q11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36150389/ "DO"] synonym: "SPGF77" EXACT [] xref: MIM:620103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:53:43Z [Term] id: DOID:0070577 name: spermatogenic failure 78 alt_id: DOID:9006326 def: "A spermatogenic failure characterized by sperm with abnormal acrosome structure due to a manchette assembly defect that has_material_basis_in homozygous mutation in the IQCN gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36321563/ "DO"] synonym: "SPGF78" EXACT [] xref: MIM:620170 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:54:59Z [Term] id: DOID:0070578 name: spermatogenic failure 79 alt_id: DOID:9003192 def: "A spermatogenic failure characterized by an abnormal acrosome reaction and impaired membrane potential after capacitation that has_material_basis_in homozygous mutation in the KCNU1 gene on chromosome 8p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34980136/ "DO", https://pubmed.ncbi.nlm.nih.gov/35551387/ "DO"] synonym: "SPGF79" EXACT [] xref: MIM:620196 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:56:28Z [Term] id: DOID:0070579 name: spermatogenic failure 80 alt_id: DOID:9000573 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in reduced or absent progressive sperm motility, that has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34169321/ "DO"] synonym: "DRC1-RELATED CONDITION" BROAD [] synonym: "SPGF80" EXACT [] xref: MIM:620222 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:57:39Z [Term] id: DOID:0070580 name: spermatogenic failure 81 alt_id: DOID:9003963 def: "A spermatogenic failure characterized by oligoasthenoteratozoospermia with acrosomal hypoplasia and detachment of the acrosome from the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the TEKT3 gene on chromosome 17p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36708031/ "DO"] synonym: "SPGF81" EXACT [] xref: MIM:620277 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T18:58:54Z [Term] id: DOID:0070581 name: spermatogenic failure 82 alt_id: DOID:9008398 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella that has_material_basis_in homozygous mutation in the AKAP3 gene on chromosome 12p13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35228300/ "DO"] synonym: "SPGF82" EXACT [] xref: MIM:620353 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:00:30Z [Term] id: DOID:0070582 name: spermatogenic failure 83 alt_id: DOID:9002373 def: "A spermatogenic failure characterized by asthenozoospermia and multiple flagella morphological defects due to loss in the inner dynein arms that has_material_basis_in homozygous mutation in the DNALI1 gene on chromosome 1p34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36726469/ "DO", https://pubmed.ncbi.nlm.nih.gov/36792588/ "DO"] synonym: "SPGF83" EXACT [] xref: MIM:620354 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:9001513 ! Asthenozoospermia created_by: mtutaj creation_date: 2024-08-29T19:01:40Z [Term] id: DOID:0070583 name: spermatogenic failure 84 alt_id: DOID:9001613 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, resulting in severely reduced motility, that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP61 gene on chromosome 20p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34792097/ "DO", https://pubmed.ncbi.nlm.nih.gov/35387802/ "DO"] synonym: "SPGF84" EXACT [] xref: MIM:620409 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:02:57Z [Term] id: DOID:0070584 name: spermatogenic failure 85 alt_id: DOID:9007726 def: "A spermatogenic failure characterized by globozoospermia and reduced progressive motility that has_material_basis_in homozygous mutation in the SPACA1 gene on chromosome 6q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34172998/ "DO"] synonym: "SPGF85" EXACT [] xref: MIM:620490 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia created_by: mtutaj creation_date: 2024-08-29T19:04:18Z [Term] id: DOID:0070585 name: spermatogenic failure 86 alt_id: DOID:9003593 def: "A spermatogenic failure characterized by acrosomal defects of the spermatozoa, resulting in oocyte activation deficiency and fertilization failure, that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL7A gene on chromosome 9q31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32923619/ "DO", https://pubmed.ncbi.nlm.nih.gov/34727571/ "DO"] synonym: "SPGF86" EXACT [] xref: MIM:620499 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:05:55Z [Term] id: DOID:0070586 name: spermatogenic failure 87 alt_id: DOID:9008317 def: "A spermatogenic failure characterized by total fertilization failure due to inability of mutant sperm to penetrate the zona pellucida that has_material_basis_in homozygous mutation in the ACR gene on chromosome 22q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37004249/ "DO"] synonym: "SPGF87" EXACT [] xref: MIM:620500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:07:15Z [Term] id: DOID:0070587 name: spermatogenic failure 88 alt_id: DOID:9003682 def: "A spermatogenic failure characterized by nonobstructive azoospermia due to prepachytene meiotic arrest of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35587281/ "DO", https://pubmed.ncbi.nlm.nih.gov/35674372/ "DO"] synonym: "SPGF88" EXACT [] xref: MIM:620547 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:12:27Z [Term] id: DOID:0070588 name: spermatogenic failure 89 alt_id: DOID:9006023 def: "A spermatogenic failure characterized by severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the AK9 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37713809/ "DO"] synonym: "SPGF89" EXACT [] xref: MIM:620705 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:14:14Z [Term] id: DOID:0070589 name: spermatogenic failure 90 alt_id: DOID:9007862 def: "A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC12 gene on chromosome 6p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35534203/ "DO"] synonym: "SPGF90" EXACT [] xref: MIM:620744 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:15:54Z [Term] id: DOID:0070590 name: spermatogenic failure 91 alt_id: DOID:9005577 def: "A spermatogenic failure characterized by teratozoospermia, consisting of a misshapen rounded sperm head and detachment of the acrosome, and sperm that fail to attach to the zona pellucida that has_material_basis_in homozygous or compound heterozygous mutation in the CCIN gene on chromosome 9p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31985809/ "DO", https://pubmed.ncbi.nlm.nih.gov/36546111/ "DO"] synonym: "SPGF91" EXACT [] xref: MIM:620838 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:17:10Z [Term] id: DOID:0070591 name: spermatogenic failure 92 alt_id: DOID:9004215 def: "A spermatogenic failure characterized by asthenozoospermia that has_material_basis_in homozygous mutation in the LRRC23 gene on chromosome 12p13.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37804054/ "DO", https://pubmed.ncbi.nlm.nih.gov/38091523/ "DO"] synonym: "SPGF92" EXACT [] xref: MIM:620848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:18:26Z [Term] id: DOID:0070592 name: spermatogenic failure 93 alt_id: DOID:9005079 def: "A spermatogenic failure characterized by nonosbtructive azoospermia or multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the STK33 gene on chromosome 11p15.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34155512/ "DO"] synonym: "SPGF93" EXACT [] xref: MIM:620849 xref: MONDO:0971000 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:19:45Z [Term] id: DOID:0070593 name: spermatogenic failure 94 alt_id: DOID:9008649 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CCDC146 gene on chromosome 7q11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38441556/ "DO"] synonym: "SPGF94" EXACT [] xref: MIM:620850 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:20:56Z [Term] id: DOID:0070594 name: spermatogenic failure 95 alt_id: DOID:9009125 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella and markedly reduced progressive sperm motility that has_material_basis_in homozygous mutation in the CFAP57 gene on chromosome 1p34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36752199/ "DO"] synonym: "SPGF95" EXACT [] xref: MIM:620917 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:22:17Z [Term] id: DOID:0070595 name: X-linked spermatogenic failure 4 alt_id: DOID:9001624 def: "A spermatogenic failure characterized by azoospermia or oligoasthenoteratozoospermia that has_material_basis_in hemizygous mutation in the GCNA gene on chromosome Xq13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33963445/ "DO", https://pubmed.ncbi.nlm.nih.gov/34413498/ "DO", https://pubmed.ncbi.nlm.nih.gov/35172124/ "DO"] synonym: "SPGFX4" EXACT [] xref: MIM:301077 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:23:33Z [Term] id: DOID:0070596 name: X-linked spermatogenic failure 5 alt_id: DOID:9003990 def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the SSX1 gene on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36796361/ "DO"] synonym: "SPGFX5" EXACT [] xref: MIM:301099 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:25:35Z [Term] id: DOID:0070597 name: X-linked spermatogenic failure 6 alt_id: DOID:9005967 def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the sperm flagella that has_material_basis_in hemizygous mutation in the USP26 gene on chromosome Xq26.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34202084/ "DO"] synonym: "SPGFX6" EXACT [] xref: MIM:301101 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:26:43Z [Term] id: DOID:0070598 name: X-linked spermatogenic failure 7 alt_id: DOID:9005480 def: "A spermatogenic failure characterized by sperm with insufficient individualization, excessive residual cytoplasm, acrosome defects, and abnormalities of the head and flagella, resulting in significantly reduced sperm concentration and progressive motility, that has_material_basis_in hemizygous mutation in the CT55 gene on chromosome Xq26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36481789/ "DO"] synonym: "SPGFX7" EXACT [] xref: MIM:301106 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:28:10Z [Term] id: DOID:0070599 name: X-linked spermatogenic failure 8 alt_id: DOID:9006682 def: "A spermatogenic failure characterized by sperm with head and midpiece defects, deformed and detached acrosomes, and markedly reduced progressive motility that has_material_basis_in hemizygous mutation in the CYLC1 gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38013430/ "DO", https://pubmed.ncbi.nlm.nih.gov/38573307/ "DO"] synonym: "SPGFX8" EXACT [] xref: MIM:301119 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2024-08-29T19:29:36Z [Term] id: DOID:0070600 name: intellectual disability and myopathy syndrome alt_id: DOID:9000176 def: "A syndrome characterized by global developmental delay with mildly impaired intellectual development, hypotonia, muscle weakness and fatigue, and abnormalities in brain white matter that has_material_basis in homozygous or compound heterozygous mutation in the ABCC9 on chromosome 12p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31575858/ "DO"] synonym: "ABCC9-related intellectual disability and myopathy" EXACT [] synonym: "AIMS" EXACT [] synonym: "IDMYS" EXACT [] xref: MIM:619719 xref: MONDO:0859224 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2024-09-30T12:13:03Z [Term] id: DOID:0070601 name: autosomal dominant nonsyndromic deafness 37 alt_id: DOID:9002069 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30245514/ "DO", https://pubmed.ncbi.nlm.nih.gov/33169910/ "DO", https://pubmed.ncbi.nlm.nih.gov/33605226/ "DO"] synonym: "autosomal dominant deafness 37" EXACT [] synonym: "DFNA37" EXACT [] xref: MIM:618533 xref: MONDO:0032802 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:15:23Z [Term] id: DOID:0070602 name: autosomal dominant nonsyndromic deafness 80 alt_id: DOID:9008687 def: "An autosomal dominant nonsyndromic deafness characterized by congenital deafness associated with absent or malformed cochleae and eighth cranial nerves that has_material_basis_in heterozygous mutation in the GREB1L gene on chromosome 18q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29955957/ "DO", https://pubmed.ncbi.nlm.nih.gov/32585897/ "DO"] synonym: "autosomal dominant deafness 80" EXACT [] synonym: "DFNA80" EXACT [] synonym: "GREB1L-RELATED CONDITION" BROAD [] xref: MIM:619274 xref: MONDO:0030998 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:17:35Z [Term] id: DOID:0070603 name: autosomal dominant nonsyndromic deafness 82 alt_id: DOID:9001133 def: "An autosomal dominant nonsyndromic deafness characterized by onset of rapidly progressive bilateral sensorineural hearing loss usually early in the first decade that has_material_basis_in heterozygous mutation in the ATP2B2 gene on chromosome 3p25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30535804/ "DO"] synonym: "ATP2B2-RELATED DISORDER" BROAD [] synonym: "ATP2B2-RELATED PROGRESSIVE HEARING IMPAIRMENT" EXACT [] synonym: "autosomal dominant deafness 82" EXACT [] synonym: "DFNA82" EXACT [] xref: MIM:619804 xref: MONDO:0030719 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:25:48Z [Term] id: DOID:0070604 name: autosomal dominant nonsyndromic deafness 84 alt_id: DOID:9000796 def: "An autosomal dominant nonsyndromic deafness characterized by bilateral, progressive sensorineural hearing loss with variable onset and audiogram shape that has_material_basis_in heterozygous mutation in the ATP11A gene on chromosome 13q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35278131/ "DO"] synonym: "autosomal dominant deafness 84" EXACT [] synonym: "DEAFNESS, AUTOSOMAL DOMINANT 84" EXACT [] synonym: "DFNA84" EXACT [] xref: MIM:619810 xref: MONDO:0030724 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:27:19Z [Term] id: DOID:0070605 name: autosomal dominant nonsyndromic deafness 85 alt_id: DOID:9002609 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the USP48 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34059922/ "DO"] synonym: "Deafness, autosomal dominant 85" EXACT [] synonym: "DFNA85" EXACT [] xref: MIM:620227 xref: MONDO:0859366 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:29:14Z [Term] id: DOID:0070606 name: autosomal dominant nonsyndromic deafness 87 alt_id: DOID:9001761 def: "An autosomal dominant nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss with inner ear anomalies, including cochlear maldevelopment, absence of the osseous spiral lamina, and/or an enlarged vestibular aqueduct that has_material_basis_in heterozygous mutation in the PI4KB gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33358777/ "DO"] synonym: "Deafness, autosomal dominant 87" EXACT [] synonym: "DFNA87" EXACT [] xref: MIM:620281 xref: MONDO:0859525 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:31:00Z [Term] id: DOID:0070607 name: autosomal dominant nonsyndromic deafness 90 alt_id: DOID:9005157 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MYO3A gene on chromosome 10p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29880844/ "DO", https://pubmed.ncbi.nlm.nih.gov/32519820/ "DO"] synonym: "Deafness, autosomal dominant 90" EXACT [] synonym: "DFNA90" EXACT [] xref: MIM:620722 xref: MONDO:0958232 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:32:21Z [Term] id: DOID:0070608 name: autosomal dominant nonsyndromic deafness 81 alt_id: DOID:9002982 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ELMOD3 gene on chromosome 2p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29713870/ "DO"] synonym: "autosomal dominant deafness 81" EXACT [] synonym: "DFNA81" EXACT [] xref: MIM:619500 xref: MONDO:0030549 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:33:46Z [Term] id: DOID:0070609 name: autosomal dominant nonsyndromic deafness 83 alt_id: DOID:9003741 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the MAP1B gene on chromosome 5q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33268592/ "DO"] synonym: "DEAFNESS, AUTOSOMAL DOMINANT 83" EXACT [] synonym: "DFNA83" EXACT [] synonym: "MAP1B-RELATED CONDITION" BROAD [] xref: MIM:619808 xref: MONDO:0030723 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:35:47Z [Term] id: DOID:0070610 name: autosomal dominant nonsyndromic deafness 86 alt_id: DOID:9002299 def: "An autosomal dominant nonsyndromic deafness characterized by late-onset progressive hearing loss through p53-mediated hair cell apoptosis that has_material_basis_in heterozygous mutation in the THOC1 gene on chromosome 18p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32776944/ "DO"] synonym: "Deafness, autosomal dominant 86" EXACT [] synonym: "DFNA86" EXACT [] xref: MIM:620280 xref: MONDO:0859524 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:37:10Z [Term] id: DOID:0070611 name: autosomal dominant nonsyndromic deafness 88 alt_id: DOID:9002506 def: "An autosomal dominant nonsyndromic deafness characterized by postlingual progressive severe sensorineural hearing loss with tinnitus that has_material_basis_in heterozygous mutation in the EPHA10 gene on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21651318/ "DO", https://pubmed.ncbi.nlm.nih.gov/36048850/ "DO"] synonym: "Deafness, autosomal dominant 88" EXACT [] synonym: "DFNA88" EXACT [] xref: MIM:620283 xref: MONDO:0859527 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:38:35Z [Term] id: DOID:0070612 name: autosomal dominant nonsyndromic deafness 89 alt_id: DOID:9003948 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ATOH1 gene on chromosome 4q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33111345/ "DO"] synonym: "Deafness, autosomal dominant 89" EXACT [] synonym: "DFNA89" EXACT [] xref: MIM:620284 xref: MONDO:0859528 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2024-09-30T12:40:03Z [Term] id: DOID:0070613 name: familial renal glucosuria def: "A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19965550/ "DO", https://pubmed.ncbi.nlm.nih.gov/30942416/ "DO"] synonym: "FAMILIAL RENAL GLUCOSURIA" EXACT [] synonym: "familial renal glycosuria" EXACT [] synonym: "FRG" EXACT [] synonym: "hereditary renal glycosuria" EXACT [] synonym: "SGLT2 deficiency" EXACT [] synonym: "SLC5A2-RELATED CONDITION" EXACT [] xref: GARD:7548 xref: MIM:233100 xref: ORDO:69076 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9432 ! renal glycosuria created_by: mtutaj creation_date: 2024-09-30T12:41:39Z [Term] id: DOID:0070614 name: chromosome 11 partial duplication syndrome alt_id: DOID:9004084 def: "A chromosomal duplication syndrome that has_material_basis_in one or more extra copies of a region of chromosome 11. (DO)" [https://medlineplus.gov/genetics/chromosome/11/ "DO"] synonym: "11q Partial Trisomy" EXACT [] synonym: "Chromosome 11, Partial Trisomy 11q" EXACT [] synonym: "Chromosome 11, Partial Trisomy 11q13-qter" EXACT [] synonym: "Chromosome 11, Partial Trisomy 11q21-qter" EXACT [] synonym: "Chromosome 11, Partial Trisomy 11q23-qter" EXACT [] synonym: "Distal Trisomy 11q" EXACT [] synonym: "partial duplication of chromosome 11" EXACT [] synonym: "partial trisomy 11" EXACT [] xref: MESH:C538294 xref: ORDO:262653 is_a: DOID:9003960 ! Trisomy created_by: mtutaj creation_date: 2024-09-30T12:48:28Z [Term] id: DOID:0070615 name: autoinflammation, antibody deficiency, and immune dysregulation syndrome alt_id: DOID:9005237 def: "An autoimmune disease characterized by recurrent blistering skin lesions with a dense inflammatory infiltrate and variable involvement of other tissues, including joints, the eye, and the gastrointestinal tract that has_material_basis in heterozygous mutation in PLCG2 on chromosome 16q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23000145/ "DO", https://pubmed.ncbi.nlm.nih.gov/30619256/ "DO"] synonym: "APLAID" EXACT [] synonym: "autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation" EXACT [] synonym: "autoinflammation, antibody deficiency, and immune dysregulation, PLCG2-associated" EXACT [] xref: GARD:17486 xref: MIM:614878 xref: MONDO:0013944 xref: ORDO:324530 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2024-11-01T16:37:29Z [Term] id: DOID:0070616 name: glycine encephalopathy 1 alt_id: DOID:9005920 def: "A glycine encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GLDC gene, a member of the mitochondrial glycine cleavage system that encodes the P protein, on chromosome 9p24. (DO)" [https://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1357/ "DO"] synonym: "GCE1" EXACT [] xref: MIM:605899 xref: MONDO:0958179 is_a: DOID:9268 ! glycine encephalopathy created_by: mtutaj creation_date: 2024-11-01T16:41:58Z [Term] id: DOID:0070617 name: rhabdoid tumor predisposition syndrome def: "A syndrome characterized by a markedly increased risk for the development of rhabdoid tumors, rare and highly aggressive malignant tumors occurring in almost any anatomical location predominantly in infants and young children. (DO)" [https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK469816/ "DO"] synonym: "familial posterior fossa brain tumor syndrome of infancy" EXACT [] synonym: "rhabdoid predisposition syndrome" EXACT [] synonym: "RTPS" EXACT [] xref: MIM:PS609322 xref: NCI:C93268 xref: ORDO:231108 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001329 ! Tumor Predisposition Syndrome created_by: mtutaj creation_date: 2024-11-01T16:07:04Z [Term] id: DOID:0070618 name: rhabdoid tumor predisposition syndrome 1 def: "A rhabdoid tumor predisposition syndrome that has_material_basis_in heterozygous germline mutation in the SMARCB1 gene on chromosome 22q11. (DO)" [https://medlineplus.gov/genetics/condition/rhabdoid-tumor-predisposition-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK469816/ "DO"] synonym: "AT/RT" RELATED [] synonym: "Brain Tumor, Posterior Fossa, of Infancy, Familial" EXACT [] synonym: "MALIGNANT RHABDOID TUMOR, SOMATIC" RELATED [] synonym: "RDT" RELATED [] synonym: "RHABDOID TUMOR" RELATED [] synonym: "RTPS1" EXACT [] synonym: "TERATOID TUMOR, ATYPICAL" RELATED [] xref: MESH:C563738 xref: MIM:609322 is_a: DOID:0070617 ! rhabdoid tumor predisposition syndrome created_by: mtutaj creation_date: 2024-11-01T16:59:07Z [Term] id: DOID:0070619 name: mitochondrial trifunctional protein deficiency 1 alt_id: DOID:9008729 def: "A mitochondrial trifunctional protein deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the HADHA gene, the alpha subunit of the mitochondrial trifunctional protein, on chromosome 2p23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12754706/ "DO"] synonym: "mitochondrial trifunctional protein deficiency 1 with myopathy and neuropathy" NARROW [] synonym: "MTPD1" EXACT [] synonym: "trifunctional protein deficiency, type 1" EXACT [] xref: MIM:609015 xref: MONDO:0958181 is_a: DOID:0111277 ! mitochondrial trifunctional protein deficiency created_by: mtutaj creation_date: 2024-11-01T17:17:22Z [Term] id: DOID:0080000 name: muscular disease def: "A musculoskeletal system disease that affects the muscles. (DO)" [http://www.nlm.nih.gov/medlineplus/muscledisorders.html "DO"] synonym: "muscle disorder" EXACT [] synonym: "muscle disorders" EXACT [] synonym: "muscular diseases" EXACT [] synonym: "SKELETAL MUSCLE DISEASE" NARROW [] xref: EFO:0002970 xref: MESH:D009135 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:0080001 name: bone disease def: "A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function. (DO)" [http://en.wikipedia.org/wiki/Bone_disease "DO"] synonym: "bone diseases" EXACT [] synonym: "disorder of patella" NARROW [] synonym: "skeletal disease" EXACT [] synonym: "skeletal disorder" EXACT [] xref: EFO:0004260 xref: EFO:0009665 xref: ICD10CM:M89.9 xref: MESH:D001847 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:0080005 name: bone remodeling disease def: "A bone disease that results_in formation or resorption abnormalities located_in bone. (DO)" [http://en.wikipedia.org/wiki/Bone_remodeling "DO"] is_a: DOID:0080001 ! bone disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080006 name: bone development disease def: "A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage. (DO)" [http://en.wikipedia.org/wiki/Dysplasia "DO"] synonym: "BMPR1A SKELETAL DYSPLASIA SYNDROME" NARROW [] synonym: "bone dysplasia" EXACT [] synonym: "bone dysplasias" EXACT [] synonym: "developmental bone disease" EXACT [] synonym: "developmental bone diseases" EXACT [] synonym: "sclerosing bone dysplasias" RELATED [] xref: EFO:0005541 xref: MESH:D001848 is_a: DOID:0080001 ! bone disease is_a: DOID:9008582 ! Developmental Disease [Term] id: DOID:0080007 name: bone deterioration disease def: "A bone structure disease that results_in change or damage of structure located_in bone. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/004015.htm "DO"] xref: RDO:9004312 is_a: DOID:0080010 ! bone structure disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080008 name: ischemic bone disease def: "A bone disease that results_in an interruption of blood supply located_in bone. (DO)" [http://en.wikipedia.org/wiki/Avascular_necrosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm "DO"] xref: EFO:0004259 xref: RDO:9004302 is_a: DOID:0080001 ! bone disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080009 name: X-linked dominant disease def: "A X-linked monogenic disease that has_material_basis_in dominant inheritance. (DO)" [https://en.wikipedia.org/wiki/X-linked_dominant_inheritance "DO"] is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0080010 name: bone structure disease def: "A bone disease that has_material_basis_in an abnormality in the location or function of the skeletal structure. (DO)" [http://en.wikipedia.org/wiki/Human_skeleton "DO"] synonym: "ABNORMAL BONE STRUCTURE" EXACT [] synonym: "Abnormality of bone mineral density" NARROW [] xref: HP:0003330 xref: HP:0004348 xref: MP:0003795 is_a: DOID:0080001 ! bone disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080011 name: bone resorption disease def: "A bone remodeling disease that results in an abnormal decrease of bone density or mass. (DO)" [http://en.wikipedia.org/wiki/Bone_resorption "DO", https://www.ncbi.nlm.nih.gov/pubmed/11277085 "DO"] synonym: "Bone Resorption" EXACT [] synonym: "Bone Resorptions" EXACT [] synonym: "Osteoclastic Bone Loss" EXACT [] synonym: "Osteoclastic Bone Losses" EXACT [] xref: MESH:D001862 is_a: DOID:0080001 ! bone disease is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:0080012 name: X-linked recessive disease def: "A X-linked monogenic disease that has_material_basis_in recessive inheritance. (DO)" [https://en.wikipedia.org/wiki/X-linked_recessive_inheritance "DO"] synonym: "X-linked recessive inheritance" EXACT [] is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0080014 name: chromosomal disease def: "A genetic disease that has_material_basis_in extra, missing, or re-arranged chromosomes. (DO)" [http://en.wikipedia.org/wiki/Chromosome_abnormality "DO", https://www.genome.gov/about-genomics/fact-sheets/Chromosome-Abnormalities-Fact-Sheet "DO"] synonym: "Autosomal Chromosome Disorder" EXACT [] synonym: "autosomal chromosome disorders" EXACT [] synonym: "Chromosomal Disorder" EXACT [] synonym: "chromosomal disorders" EXACT [] synonym: "Chromosome Abnormality Disorder" EXACT [] synonym: "Chromosome Abnormality Disorders" EXACT [] synonym: "chromosome disorder" EXACT [] synonym: "chromosome disorders" EXACT [] xref: EFO:0003831 xref: MESH:D025063 xref: MONDO:0019040 is_a: DOID:630 ! genetic disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:0080015 name: physical disorder def: "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder "DO"] synonym: "congenital disorder" EXACT [] is_a: DOID:4 ! disease [Term] id: DOID:0080016 name: spina bifida alt_id: OMIA:000938 def: "A neural tube defect that is characterized by incomplete closing of the spine and membranes around the spinal cord during early development. (DO)" [https://en.wikipedia.org/wiki/Spina_bifida "DO", https://ghr.nlm.nih.gov/condition/spina-bifida "DO"] synonym: "cleft spine" EXACT [] synonym: "open spine" EXACT [] synonym: "rachischises" EXACT [] synonym: "rachischisis" EXACT [] synonym: "schistorrhachis" EXACT [] synonym: "Spina Bifidas" EXACT [] synonym: "Spina Bifida, Susceptibility To" RELATED [] synonym: "spinal dysraphia" EXACT [] synonym: "spinal dysraphias" EXACT [] synonym: "spinal dysraphism" EXACT [] synonym: "spinal dysraphisms" EXACT [] synonym: "status dysraphicus" EXACT [] xref: EFO:0003105 xref: GARD:7673 xref: ICD9CM:741 xref: MESH:D016135 xref: NCI:C101214 is_a: DOID:0080074 ! neural tube defect [Term] id: DOID:0080018 name: dysbaric osteonecrosis def: "An ischemic bone disease the has_material_basis_in nitrogen embolization located_in bone. (DO)" [http://en.wikipedia.org/wiki/Dysbaric_osteonecrosis "DO"] synonym: "Caisson disease of bone" EXACT [] synonym: "DON" EXACT [] is_a: DOID:0080008 ! ischemic bone disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080019 name: metaphyseal dysplasia alt_id: MIM:265900 def: "An osteochondrodysplasia that is characterized by abnormally broad ends of the arm and leg long bones resembling a boat oar or paddle due to enlargement of the spongy inner layer of bone. (DO)" [http://en.wikipedia.org/wiki/Metaphyseal_dysplasia "DO"] synonym: "Bakwin-Krida syndrome" EXACT [] synonym: "Edwin Pyle disease" EXACT [] synonym: "metaphyseal dysplasia, Pyle type" EXACT [] synonym: "metaphyseal dysplasia with little involvement of the cranial bones" EXACT [] synonym: "PYL" EXACT [] synonym: "Pyle's disease" EXACT [] synonym: "Pyle-Cohn syndrome" EXACT [] synonym: "Pyle disease" EXACT [] synonym: "Pyle metaphyseal dysplasia" EXACT [] xref: MESH:C536252 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080020 name: Jansen's metaphyseal chondrodysplasia alt_id: MIM:156400 alt_id: RDO:0003428 def: "A metaphyseal dysplasia that has_material_basis_in mutation in PTH receptor which results_in short-limbed dwarfism. (DO)" [http://en.wikipedia.org/wiki/Jansen%27s_metaphyseal_chondrodysplasia "DO", http://www.healthline.com/galecontent/metaphyseal-dysplasia-1/2#jansentype "DO"] synonym: "Jansen disease" EXACT [] synonym: "Jansen metaphyseal chondrodysplasia" EXACT [] synonym: "Jansen metaphyseal dysostosis" EXACT [] synonym: "Jansen Type Metaphyseal Chondrodysplasia" EXACT [] synonym: "metaphyseal chondrodysplasia Murk Jansen type" EXACT [] xref: MESH:C537564 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080019 ! metaphyseal dysplasia [Term] id: DOID:0080021 name: Schmid metaphyseal chondrodysplasia alt_id: MIM:156500 alt_id: OMIA:001718 def: "A metaphyseal dysplasia that results_in dwarfism and bowed legs. (DO)" [http://en.wikipedia.org/wiki/Schmid_metaphyseal_chondrodysplasia "DO", http://www.ncbi.nlm.nih.gov/omim/156500 "DO"] synonym: "COL10A1-RELATED CONDITION" EXACT [] synonym: "dwarfism, Schmid metaphyseal chondrodysplasia" EXACT [] synonym: "Japanese type spondylometaphyseal dysplasia" EXACT [] synonym: "MCDS" EXACT [] synonym: "Schmid type metaphyseal dysplasia" EXACT [] xref: GARD:7029 xref: MESH:C537352 is_a: DOID:0080019 ! metaphyseal dysplasia is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia [Term] id: DOID:0080026 name: otospondylomegaepiphyseal dysplasia, autosomal recessive alt_id: MIM:215150 alt_id: MIM:249230 def: "An osteochondrodysplasia that results from mutations autosomal recessive inheritance of mutations in the COL11A2 gene which results_in enlargement of the located_in epiphysis in located_in hand and located_in foot, distinct facial features, platyspondyly and hearing loss. (DO)" [http://en.wikipedia.org/wiki/Otospondylomegaepiphyseal_dysplasia "DO", http://ghr.nlm.nih.gov/condition/otospondylomegaepiphyseal-dysplasia "DO", http://www.medic8.com/genetics/otospondylomegaepiphyseal-dysplasia.htm "DO", http://www.ncbi.nlm.nih.gov/omim/215150 "DO"] synonym: "chondrodystrophy with sensorineural deafness" EXACT [] synonym: "Insley-Astley syndrome" EXACT [] synonym: "mega-epiphyseal dwarfism" EXACT [] synonym: "megaepiphyseal dwarfism" EXACT [] synonym: "NANCE-INSLEY SYNDROME" EXACT [] synonym: "Nance-Sweeney chondrodysplasia" EXACT [] synonym: "OSMED" EXACT [] synonym: "OSMEDB" EXACT [] synonym: "oto-spondylo-mega-epiphyseal dysplasia" EXACT [] synonym: "oto-spondylo-megaepiphyseal dysplasia" EXACT [] synonym: "Weissenbacher-Zweymuller syndrome, formerly" RELATED [] synonym: "WZS, formerly" RELATED [] xref: MESH:C536140 xref: MIM:PS184840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080027 name: spondyloepimetaphyseal dysplasia def: "An osteochondrodysplasia that results_in abnormalities of bone growth located_in vertebral column, located_in epiphysis, located_in metaphysis. (DO)" [http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia "DO"] synonym: "SPONDYLO-EPI-(META)-PHYSEAL DYSPLASIA" EXACT [] is_a: DOID:0060564 ! spinal disease is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0080028 name: spondyloepimetaphyseal dysplasia, Strudwick type alt_id: MIM:184250 def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the COL2A1 gene which results_in short stature and multiple skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses). (DO)" [http://en.wikipedia.org/wiki/Spondyloepimetaphyseal_dysplasia\,_Strudwick_type "DO", http://ghr.nlm.nih.gov/condition/spondyloepimetaphyseal-dysplasia-strudwick-type "DO"] synonym: "dappled metaphysis syndrome" EXACT [] synonym: "SED Strudwick" EXACT [] synonym: "SEMDC" EXACT [] synonym: "Semd, Strudwick type" EXACT [] synonym: "SEMDSTWK" EXACT [] synonym: "SMD" EXACT [] synonym: "Smed, Strudwick Type" EXACT [] synonym: "Smed, Type I" EXACT [] synonym: "spondylometaepiphyseal dysplasia congenita, Strudwick type" EXACT [] synonym: "spondylometaphyseal dysplasia" EXACT [] synonym: "spondylometaphyseal dysplasia (Smd)" EXACT [] synonym: "Strudwick syndrome" EXACT [] xref: GARD:134 xref: MESH:C537501 xref: ORDO:93346 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:0080029 name: autosomal recessive spinocerebellar ataxia 16 def: "An autosomal recessive cerebellar ataxia that is characterized by truncal and limb ataxia resulting in gait instability and that has_material_basis_in homozygous or compound heterozygous mutation in the STUB1 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24113144 "DO"] synonym: "SCAR16" EXACT [] xref: MIM:615768 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080030 name: spondyloepimetaphyseal dysplasia, Missouri type alt_id: MIM:602111 def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in mutations in the MMP13 gene which results_in a pear-shaped vertebrae, abnormal metaphyseal changes, and genu varum deformities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16167086/ "DO"] synonym: "MANDP1" NARROW [] synonym: "METAPHYSEAL ANADYSPLASIA 1" NARROW [] synonym: "MMP13-RELATED CONDITION" BROAD [] synonym: "SEMD, Missouri type" EXACT [] xref: GARD:10618 xref: MESH:C566574 xref: ORDO:93356 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:0080031 name: fibrous dysplasia def: "A bone remodeling disease that results_in the destruction of normal bone and replacing it with fibrous bone tissue. (DO)" [http://en.wikipedia.org/wiki/Fibrous_dysplasia_of_bone "DO", http://orthoinfo.aaos.org/topic.cfm?topic=a00083 "DO", http://www.mayoclinic.com/health/fibrous-dysplasia/DS00991 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001234.htm "DO"] xref: GARD:6444 xref: ICDO:8818/0 xref: NCI:C34609 is_a: DOID:0080005 ! bone remodeling disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080032 name: craniodiaphyseal dysplasia alt_id: MIM:218300 def: "An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. (DO)" [http://en.wikipedia.org/wiki/Craniodiaphyseal_dysplasia "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=1513 "DO"] xref: GARD:1567 xref: MESH:C562940 is_a: DOID:4254 ! osteosclerosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080033 name: craniometaphyseal dysplasia def: "An osteosclerosis that is characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal modeling of the metaphyses. (DO)" [http://ghr.nlm.nih.gov/condition/craniometaphyseal-dysplasia "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Craniometaphyseal%20Dysplasia "DO", https://medlineplus.gov/genetics/condition/craniometaphyseal-dysplasia/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK154653/ "DO"] xref: MIM:PS123000 xref: ORDO:1522 is_a: DOID:4254 ! osteosclerosis is_a: DOID:9006105 ! Craniomandibular Disorders created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0080036 name: SOST-related sclerosing bone dysplasia def: "A hyperostosis that has_material_basis_in a mutation in the SOST gene which results_in overgrowth of endosteal bone producing dense and wide bones throughout the body especially located_in skull. (DO)" [http://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia "DO"] synonym: "ELEVATED ALKALINE PHOSPHATASE" BROAD [] synonym: "endosteal hyperostosis, autosomal recessive" EXACT [] synonym: "hyperostosis corticalis generalisata" EXACT [] synonym: "hyperphosphatasemia tarda" EXACT [] synonym: "van Buchem disease" EXACT [] synonym: "VBCH" EXACT [] xref: GARD:4771 xref: MIM:239100 xref: MONDO:0009395 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:205 ! hyperostosis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0080037 name: Worth syndrome alt_id: DOID:0111372 alt_id: MESH:C536527 alt_id: MIM:144750 def: "A hyperostosis that has_material_basis_in a mutation in the LRP5 gene which results_in increased bone density and bony structures located_in palate. (DO)" [http://en.wikipedia.org/wiki/Worth_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/29709743 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12579474 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4942110 "DO"] synonym: "autosomal dominant endosteal hyperostosis" EXACT [] synonym: "autosomal dominant osteosclerosis" EXACT [] synonym: "autosomal dominant osteosclerosis, Worth type" EXACT [] synonym: "autosomal dominant osteosclerosis, Worth type with torus palatinus" EXACT [] synonym: "benign form of Worth hyperostosis corticalis generalisata with torus platinus" EXACT [] synonym: "benign hyperostosis corticalis generalisata" EXACT [] synonym: "endosteal hyperostosis, Worth type" EXACT [] synonym: "Hyperostosis Corticalis Generalisata, Benign Form Of Worth, With Torus Palatinus" EXACT [] synonym: "hyperostosis corticalis generalisata congenita" EXACT [] synonym: "osteosclerosis of the skull and enlarged mandible" EXACT [] synonym: "Worth's syndrome" EXACT [] synonym: "Worth disease" EXACT [] xref: GARD:390 xref: MESH:C536748 xref: ORDO:2790 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13533 ! osteopetrosis is_a: DOID:205 ! hyperostosis is_a: DOID:225 ! syndrome is_a: DOID:4254 ! osteosclerosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080038 name: pycnodysostosis def: "An osteochondrodysplasia that has_material_basis_in a mutation in the CTSK gene which results_in dwarfism, brittle bones, osteopetrosis, shortening of the distal phalanges. (DO)" [http://en.wikipedia.org/wiki/Pycnodysostosis "DO"] synonym: "PKND" EXACT [] synonym: "PYCD" EXACT [] synonym: "pycnodysostoses" EXACT [] synonym: "pyknodysostoses" EXACT [] synonym: "pyknodysostosis" EXACT [] xref: GARD:4611 xref: MESH:D058631 xref: MIM:265800 xref: MONDO:0009940 xref: ORDO:763 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:0080039 name: axial osteomalacia alt_id: MIM:109130 def: "An osteosclerosis that results_in coarsening located_in trabecular bone. (DO)" [http://en.wikipedia.org/wiki/Axial_osteomalacia "DO", http://rarediseases.info.nih.gov/GARD/Condition/8431/Axial_osteomalacia.aspx "DO", http://www.ncbi.nlm.nih.gov/omim/109130 "DO"] synonym: "Atypical osteomalacia involving the axial skeleton" EXACT [] xref: GARD:8431 xref: MESH:C537791 is_a: DOID:10573 ! osteomalacia is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:0080040 name: fibrogenesis imperfecta ossium def: "A syndrome that involves abnormality of collagen synthesis in lamellar bones, with manifestations limited to the skeleton. The initial symptom is frequently spontaneous fractures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7559718 "DO", PMID:7559718] synonym: "Baker's disease" EXACT [] is_a: DOID:225 ! syndrome is_a: DOID:9003519 ! Pathologic Bone Demineralization created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080041 name: hypochondroplasia alt_id: MIM:146000 def: "An osteochondrodysplasia that has_material_basis_in mutation in the FGFR3 gene which affects ossification of cartilage and results_in short limb dwarfism. (DO)" [http://en.wikipedia.org/wiki/Hypochondroplasia "DO", http://ghr.nlm.nih.gov/condition/hypochondroplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1477/ "DO"] synonym: "HCH" EXACT [] synonym: "hypochondrodysplasia" EXACT [] xref: GARD:6724 xref: MESH:C562937 xref: NCI:C118697 xref: ORDO:429 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9006496 ! Lordosis is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080042 name: autosomal recessive spinocerebellar ataxia 18 def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24078737 "DO"] synonym: "SCAR18" EXACT [] xref: MIM:616204 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:0080043 name: achondrogenesis def: "An osteochondrodysplasia that has_material_basis_in deficient endochondral ossification which results_in dwarfism, short-trunk, short-limbed, anascara, disproportionately large cranium, and a narrow chest which leads to death in utero or during early neonatal period. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis "DO", http://www.healthline.com/galecontent/achondrogenesis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001247.htm "DO", http://www.orpha.net/data/patho/Pro/en/Achondrogenesis-FRenPro1256.pdf "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Achondrogenesis "DO"] synonym: "achondrogenesis syndrome" EXACT [] xref: GARD:2882 xref: MESH:C579878 xref: MIM:PS200600 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080044 name: hypochondrogenesis def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which affects bone growth and results_in a small body, hydrops fetalis, and abnormal ossification located_in vertebral column or located_in pelvis. The disease has_symptom enlarged abdomen. (DO)" [http://en.wikipedia.org/wiki/Hypochondrogenesis "DO", http://ghr.nlm.nih.gov/condition/hypochondrogenesis "DO", http://www.healthline.com/galecontent/hypochondrogenesis "DO"] xref: MESH:C563007 is_a: DOID:0050177 ! monogenic disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080045 name: Kniest dysplasia alt_id: MIM:156550 def: "An osteochondrodysplasia that has_material_basis_in a mutation in the COL2A1 gene which results_in dwarfism with a short trunk and limbs as well as vision and hearing problems. The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. (DO)" [http://ghr.nlm.nih.gov/condition/kniest-dysplasia "DO", http://www.ksginfo.org/kniest.html "DO"] synonym: "Kniest Chondrodystrophy" EXACT [] synonym: "Kniest Syndrome" EXACT [] synonym: "Swiss Cheese Cartilage Dysplasia" EXACT [] xref: GARD:6841 xref: MESH:C537207 xref: NCI:C125594 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:674 ! cleft palate is_a: DOID:854 ! collagen disease is_a: DOID:9000613 ! Hyaline Membrane Disease is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080046 name: Stickler syndrome def: "A syndrome that is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. (DO)" [https://en.wikipedia.org/wiki/Stickler_syndrome "DO", https://ghr.nlm.nih.gov/condition/stickler-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1302/ "DO"] synonym: "AUTOSOMAL RECESSIVE STICKLER SYNDROME" NARROW [] synonym: "Stickler syndrome, dominant" NARROW [] xref: GARD:10782 xref: MIM:PS108300 xref: NCI:C74984 xref: ORDO:828 is_a: DOID:225 ! syndrome is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0080047 name: pseudoachondroplasia alt_id: MIM:177170 def: "An osteochondrodysplasia that has_material_basis_in mutations in the COMP gene which results_in short limb dwarfism. (DO)" [http://en.wikipedia.org/wiki/Pseudoachondroplasia "DO", http://ghr.nlm.nih.gov/condition/pseudoachondroplasia "DO", http://www.healthline.com/galecontent/pseudoachondroplasia "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=750.0 "DO", http://www.wheelessonline.com/ortho/pseudoachondroplasia "DO"] synonym: "PSACH" EXACT [] synonym: "pseudoachondroplastic dysplasia" EXACT [] synonym: "pseudoachondroplastic spondyloepiphyseal dysplasia" EXACT [] synonym: "pseudoachondroplastic spondyloepiphyseal dysplasia syndrome" EXACT [] xref: GARD:4540 xref: MESH:C535819 xref: NCI:C118635 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0080049 name: acromesomelic dysplasia def: "An osteochondrodysplasia that is characterized by mesomelia and acromelia, which results_in short limb dwarfism. (DO)" [http://www.webmd.com/a-to-z-guides/acromesomelic-dysplasia "DO", https://rarediseases.org/rare-diseases/acromesomelic-dysplasia/ "DO"] synonym: "acromesomelic dwarfism" EXACT [] xref: GARD:6 xref: MESH:C535658 xref: MIM:PS602875 xref: ORDO:93437 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080050 name: acromesomelic dysplasia, Maroteaux type alt_id: MIM:602875 def: "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the vertebral column and shortening of the limb middle and distal segments. (DO)" [http://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf "DO", https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO"] synonym: "acromesomelic dwarfism Maroteux type" EXACT [] synonym: "acromesomelic dysplasia 1" EXACT [] synonym: "acromesomelic dysplasia 1, Maroteaux type" EXACT [] synonym: "AMD1" EXACT [] synonym: "AMDM" EXACT [] synonym: "St. Helena dysplasia" EXACT [] xref: GARD:507 xref: MESH:C535661 xref: ORDO:40 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0080051 name: acromesomelic dysplasia, Hunter-Thompson type def: "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand or located_in foot. (DO)" [http://www.orpha.net/data/patho/GB/uk-hunter05.pdf "DO", https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO"] synonym: "acromesomelic dysplasia 2C" EXACT [] synonym: "acromesomelic dysplasia 2C, Hunter-Thompson type" EXACT [] synonym: "AMD2C" EXACT [] synonym: "AMDH" EXACT [] xref: GARD:506 xref: MIM:201250 xref: ORDO:968 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:0080052 name: acromesomelic dysplasia, Grebe type alt_id: MIM:200700 def: "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones. (DO)" [http://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf "DO", https://en.wikipedia.org/wiki/Acromesomelic_dysplasia "DO"] synonym: "achondrogenesis type II, formerly" RELATED [] synonym: "acromesomelic dysplasia 2A" EXACT [] synonym: "AMD2A" EXACT [] synonym: "AMDG" EXACT [] synonym: "Brazilian achondrogenesis" EXACT [] synonym: "chondrodysplasia, Grebe type" EXACT [] synonym: "Grebe chondrodysplasia" EXACT [] synonym: "Grebe dysplasia" EXACT [] synonym: "Grebe syndrome" EXACT [] xref: GARD:1300 xref: MESH:C537915 xref: ORDO:2098 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:0080053 name: Albright's hereditary osteodystrophy def: "An pseudohypoparathyroidism that has_material_basis_in lack of responsiveness to parathyroid hormone which results in shortening and widening of long bones of the located in hand or located in foot along with short stature, obesity, and rounded face. (DO)" [http://en.wikipedia.org/wiki/Albright%27s_hereditary_osteodystrophy "DO", http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=5770 "DO", http://www.orpha.net/data/patho/Pro/en/Albright-FRenPro1314.pdf "DO"] synonym: "Albright hereditary osteodystrophy" EXACT [] synonym: "Albright hereditary osteodystrophy with multiple hormone resistance" EXACT [] synonym: "PHP1A" EXACT [] synonym: "PHP IA" EXACT [] synonym: "pseudohypoparathyroidism type 1A" EXACT [] synonym: "pseudohypoparathyroidism, type IA" EXACT [] synonym: "PSEUDOHYPOPARATHYROIDISM, TYPE IA, WITH TESTOTOXICOSIS" NARROW [] xref: GARD:5770 xref: MIM:103580 xref: NCI:C118434 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:0080054 name: achondrogenesis type IA alt_id: MIM:200600 def: "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column or located_in spine. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis_type_1A "DO"] synonym: "ACG1A" EXACT [] synonym: "Achondrogenesis, Houston-Harris type" EXACT [] synonym: "achondrogenesis type 1A" EXACT [] synonym: "Houston-Harris achondrogenesis" EXACT [] synonym: "TRIP11-related condition" BROAD [] xref: GARD:459 xref: MESH:C536015 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060564 ! spinal disease is_a: DOID:0080043 ! achondrogenesis is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0080055 name: achondrogenesis type IB alt_id: MIM:600972 alt_id: RDO:0001426 def: "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis_type_1B "DO", http://ghr.nlm.nih.gov/condition/achondrogenesis "DO", http://www.healthline.com/galecontent/achondrogenesis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1516/ "DO"] synonym: "ACG1B" EXACT [] synonym: "achondrogenesis, Fraccaro type" EXACT [] synonym: "achondrogenesis type 1B" EXACT [] synonym: "Fraccaro achondrogenesis" EXACT [] xref: GARD:460 xref: MESH:C536016 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080043 ! achondrogenesis is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0080056 name: achondrogenesis type II alt_id: MIM:200610 def: "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis, a prominent forehead and abnormal ossification of the located_in vertebral column or located_in pelvis. (DO)" [http://en.wikipedia.org/wiki/Achondrogenesis_type_2 "DO", http://ghr.nlm.nih.gov/condition/achondrogenesis "DO", http://www.healthline.com/galecontent/achondrogenesis "DO"] synonym: "ACG2" EXACT [] synonym: "achondrogenesis, Langer-Saldino type" EXACT [] synonym: "achondrogenesis type 2" EXACT [] synonym: "achondrogenesis type 2 or hypochondrogenesis" EXACT [] synonym: "achondrogenesis type IB (formerly)" RELATED [] synonym: "chondrogenesis imperfecta" EXACT [] synonym: "Langer-Saldino achondrogenesis" EXACT [] xref: GARD:8713 xref: MESH:C536017 xref: NCI:C3816 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080043 ! achondrogenesis is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0080057 name: autosomal recessive spinocerebellar ataxia 15 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the RUBCN gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20826435 "DO"] synonym: "Salih ataxia" EXACT [] synonym: "SCAR15" EXACT [] xref: MIM:615705 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080058 name: autosomal recessive spinocerebellar ataxia 14 alt_id: OMIA:002092 def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severe early-onset gait ataxia, eye movement abnormalities, cerebellar atrophy on brain imaging, and intellectual disability and that has_material_basis_in homozygous mutation in the SPTBN2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23236289 "DO"] synonym: "autosomal recessive cerebellar ataxia, spectrin-associated, 1" EXACT [] synonym: "SCAR14" EXACT [] synonym: "SPARCA1" EXACT [] synonym: "spinocerebellar ataxia, SPTBN2-related" EXACT [] synonym: "SPTBN2-RELATED CONDITION" BROAD [] xref: MIM:615386 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080059 name: autosomal recessive spinocerebellar ataxia 7 alt_id: MIM:609270 def: "An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)" [https://ghr.nlm.nih.gov/gene/TPP1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26224725 "DO"] synonym: "childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia" EXACT [] synonym: "SCAR7" EXACT [] synonym: "TPP1-RELATED CONDITION" BROAD [] xref: GARD:12232 xref: MESH:C563753 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080060 name: autosomal recessive spinocerebellar ataxia 12 def: "An autosomal recessive cerebellar ataxia that is characterized by onset of generalized seizures in infancy, delayed psychomotor development with mental retardation, and cerebellar ataxia and that has_material_basis_in homozygous mutation in the WWOX gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24369382 "DO"] synonym: "SCAR12" EXACT [] synonym: "spinocerebellar ataxia with mental retardation and epilepsy" EXACT [] xref: MIM:614322 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy [Term] id: DOID:0080061 name: autosomal recessive spinocerebellar ataxia 2 alt_id: MIM:213200 def: "An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. (DO)" [https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia "DO", https://www.omim.org/entry/606002 "DO"] synonym: "Cerebellar Hypoplasia, Nonprogressive Norman Type" EXACT [] synonym: "Cerebelloparenchymal Disorder III" EXACT [] synonym: "congenital cerebellar granular cell hypoplasia and mental retardation" EXACT [] synonym: "CPD3" EXACT [] synonym: "CPD III" EXACT [] synonym: "SCAR2" EXACT [] xref: MESH:C565865 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:0080062 name: autosomal recessive spinocerebellar ataxia 13 def: "An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has_material_basis_in homozygous mutation in the GRM1 gene on chromosome 6q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22901947 "DO"] synonym: "GRM1-RELATED CONDITION" BROAD [] synonym: "SCAR13" EXACT [] xref: MIM:614831 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080063 name: autosomal recessive spinocerebellar ataxia 11 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the SYT14 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21835308 "DO"] synonym: "SCAR11" EXACT [] xref: MIM:614229 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080064 name: autosomal recessive spinocerebellar ataxia 17 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the CWF19L1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26197978 "DO"] synonym: "SCAR17" EXACT [] xref: MIM:616127 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080065 name: autosomal recessive spinocerebellar ataxia 19 def: "An autosomal recessive cerebellar ataxia that is characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia and that has_material_basis_in homozygous mutation in the SLC9A1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25205112 "DO"] synonym: "Lichtenstein-Knorr syndrome" EXACT [] synonym: "LIKNS" EXACT [] synonym: "SCAR19" EXACT [] xref: MIM:616291 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:0080066 name: autosomal recessive spinocerebellar ataxia 20 def: "An autosomal recessive cerebellar ataxia that is characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy and that has_material_basis_in homozygous mutation in the SNX14 gene on chromosome 6q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25439728 "DO"] synonym: "Cerebellar cortical degeneration" NARROW [] synonym: "SCAR20" EXACT [] synonym: "SNX14-RELATED CONDITION" EXACT [] xref: MIM:616354 xref: MONDO:0014601 xref: OMIA:002034 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia created_by: rgd creation_date: 2017-03-14T00:00:00Z [Term] id: DOID:0080067 name: Charcot-Marie-Tooth disease type 5 def: "A Charcot-Marie-Tooth disease that is characterized by pyramidal features including extensor plantar responses, mild increase in tone, and preserved or increased reflexes but no spastic gait. (DO)" [https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications "DO", https://www.ncbi.nlm.nih.gov/pubmed/12601114 "DO"] synonym: "hereditary motor and sensory neuropathy with pyramidal features" EXACT [] xref: MIM:600361 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0080068 name: Charcot-Marie-Tooth disease type 6 def: "A Charcot-Marie-Tooth disease that is characterized by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. (DO)" [https://en.wikipedia.org/wiki/Charcot-Marie-Tooth_classifications "DO", https://www.ncbi.nlm.nih.gov/pubmed/26168012 "DO"] synonym: "Charcot-Marie-Tooth disease 6" EXACT [] synonym: "CMT6" EXACT [] synonym: "hereditary motor and sensory neuropathy type 6" EXACT [] synonym: "hereditary motor and sensory neuropathy, type VI" EXACT [] synonym: "hereditary motor and sensory neuropathy VI" EXACT [] synonym: "HMSN6" EXACT [] synonym: "HMSN VI" EXACT [] synonym: "peripheral neuropathy and optic atrophy" EXACT [] xref: MESH:C562851 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0080069 name: Charcot-Marie-Tooth disease type 7 def: "A Charcot-Marie-Tooth disease that is characterized by optic atrophy followed by retinitis pigmentosa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25491489 "DO"] is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0080070 name: mucolipidosis II alpha/beta alt_id: MIM:252500 def: "A mucolipidosis that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay, caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates, and that has_material_basis_in homozygous or compound heterozygous mutation in the GNPTAB gene. (DO)" [https://en.wikipedia.org/wiki/I-cell_disease "DO", https://ghr.nlm.nih.gov/condition/mucolipidosis-ii-alpha-beta "DO", https://pubmed.ncbi.nlm.nih.gov/16116615/ "DO", https://rarediseases.org/rare-diseases/i-cell-disease/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1828/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6336676/ "DO"] synonym: "GNPTAB-RELATED DISORDER" BROAD [] synonym: "ICD" EXACT [] synonym: "I-cell disease" EXACT [] synonym: "I-cell diseases" EXACT [] synonym: "inclusion-cell disease" EXACT [] synonym: "inclusion cell diseases" EXACT [] synonym: "mcolipidosis II alpha/beta" EXACT [] synonym: "ML II" EXACT [] synonym: "ML II alpha/beta" EXACT [] synonym: "mucolipidosis 2" EXACT [] synonym: "mucolipidosis II" EXACT [] synonym: "mucolipidosis type II" EXACT [] synonym: "type II mucolipidoses" EXACT [] xref: GARD:6749 xref: MESH:C538602 xref: MESH:C567100 xref: NCI:C61270 is_a: DOID:0080488 ! mucolipidosis is_a: DOID:3343 ! glycoproteinosis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080071 name: mucolipidosis III alpha/beta def: "A mucolipidosis that has_material_basis_in mutation in the gene encoding the alpha/beta-subunits precursor gene of GLcNAc-phosphotransferase. (DO)" [https://ghr.nlm.nih.gov/condition/mucolipidosis-iii-alpha-beta "DO"] synonym: "atypical pseudo-Hurler polydystrophy mucolipidosis III alpha/beta" NARROW [] synonym: "GNPTAB-RELATED DISORDER" BROAD [] synonym: "ML III" EXACT [] synonym: "ML IIIA" EXACT [] synonym: "ML III alpha/beta" EXACT [] synonym: "mucolipidosis III" EXACT [] synonym: "mucolipidosis IIIA" EXACT [] synonym: "mucolipidosis type 3 A" EXACT [] synonym: "mucolipidosis type III alpha/beta" EXACT [] synonym: "pseudo-Hurler polydystrophy" EXACT [] xref: MESH:C537367 xref: MIM:252600 xref: MONDO:00018931 xref: ORDO:577 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080488 ! mucolipidosis is_a: DOID:3343 ! glycoproteinosis [Term] id: DOID:0080072 name: intestinal pseudo-obstruction alt_id: DOID:3878 alt_id: MESH:C537394 def: "A colonic disease that is characterized by bowel obstruction resulting from impairment of the muscle contractions that move food through the digestive tract. (DO)" [https://ghr.nlm.nih.gov/condition/intestinal-pseudo-obstruction "DO", https://pubmed.ncbi.nlm.nih.gov/31848803/ "DO"] synonym: "chronic idiopathic intestinal pseudo-obstruction" EXACT [] synonym: "Chronic intestinal pseudoobstruction" EXACT [] synonym: "chronic intestinal pseudo-obstruction" EXACT [] synonym: "deficiency of argyrophil myenteric plexus" EXACT [] synonym: "enteric neuropathy" EXACT [] synonym: "familial visceral neuropathy, autosomal recessive" EXACT [] synonym: "Idiopathic Intestinal Pseudo-Obstruction" EXACT [] synonym: "idiopathic intestinal pseudo-obstructions" EXACT [] synonym: "Intestinal Pseudoobstruction" EXACT [] synonym: "Intestinal pseudoobstruction due to neuronal disease" EXACT [] synonym: "Intestinal Pseudoobstructions" EXACT [] synonym: "intestinal pseudo-obstructions" EXACT [] synonym: "intestine pseudoobstruction" EXACT [] synonym: "neuronal intestinal dysplasia" EXACT [] synonym: "Neuronal Intestinal Pseudoobstruction" EXACT [] synonym: "pseudointestinal obstruction syndrome" EXACT [] synonym: "pseudoobstruction, chronic idiopathic intestinal, neuronal type" EXACT [] synonym: "pseudo-obstruction of intestine" EXACT [] synonym: "pseudoobstructive syndrome" EXACT [] synonym: "visceral myopathies" EXACT [] synonym: "visceral myopathy" EXACT [] xref: EFO:1000988 xref: GARD:12744 xref: GARD:6789 xref: MESH:D007418 xref: NCI:C192634 xref: NCI:C34733 xref: ORDO:2978 is_a: DOID:5353 ! colonic disease is_a: DOID:8440 ! ileus is_a: DOID:863 ! nervous system disease [Term] id: DOID:0080073 name: spina bifida occulta def: "A spina bifida that is characterized by minor splits in the vertebrae where the outer part of some of the vertebrae is not completely closed. (DO)" [https://en.wikipedia.org/wiki/Spina_bifida#Spina_bifida_occulta "DO"] synonym: "closed spinal bifida" EXACT [] synonym: "dermal sinus" EXACT [] synonym: "occult spina bifida" EXACT [] xref: MESH:D016136 is_a: DOID:0080016 ! spina bifida [Term] id: DOID:0080074 name: neural tube defect alt_id: MIM:182940 alt_id: MIM:222500 def: "A physical disorder characterized by incomplete closure of the neural tube. (DO)" [https://en.wikipedia.org/wiki/Neural_tube_defect "DO", https://www.ncbi.nlm.nih.gov/books/NBK555903/ "DO"] synonym: "Acrania" EXACT [] synonym: "acranias" EXACT [] synonym: "craniorachischises" EXACT [] synonym: "Craniorachischisis" EXACT [] synonym: "developmental neural tube defects" EXACT [] synonym: "Diastematomyelia" EXACT [] synonym: "Diastematomyelias" EXACT [] synonym: "Exencephalies" EXACT [] synonym: "Exencephaly" EXACT [] synonym: "Iniencephalies" EXACT [] synonym: "Iniencephaly" EXACT [] synonym: "neural tube defects" EXACT [] synonym: "NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO" EXACT [] synonym: "Neurenteric Cyst" EXACT [] synonym: "Neurenteric Cysts" EXACT [] synonym: "Neuroenteric Cyst" EXACT [] synonym: "Neuroenteric Cysts" EXACT [] synonym: "NTD" EXACT [] synonym: "SPINA BIFIDA" NARROW [] synonym: "Spinal Cord Myelodysplasia" EXACT [] synonym: "spinal cord myelodysplasias" EXACT [] xref: GARD:4016 xref: MESH:D009436 is_a: DOID:0080015 ! physical disorder is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0080075 name: Neu-Laxova syndrome 2 alt_id: RDO:9003580 def: "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PSAT1 gene on chromosome 9q21.1, causing issues producing the amino acid serine. (DO)" [https://www.omim.org/entry/616038 "DO"] synonym: "PSAT1-RELATED DISORDER" BROAD [] xref: MIM:616038 is_a: DOID:0050721 ! serine deficiency is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:0080076 name: Neu-Laxova syndrome 1 alt_id: MIM:256520 def: "A serine deficiency that is characterized by multiple fatal malformations including ichthyosis, microcephaly, central nervous system abnormalities, limb deformities, intrauterine growth restriction, proptosis, anasarca, and micrognathia, and has_material_basis_in autosomal recessive inheritance of mutation in the PHGDH gene on chromosome 1p12, causing issues producing the amino acid serine. (DO)" [https://www.omim.org/entry/256520 "DO"] synonym: "NLS" EXACT [] synonym: "NLS1" NARROW [] xref: MESH:C536405 xref: RDO:0001986 is_a: DOID:0050721 ! serine deficiency is_a: DOID:10907 ! microcephaly is_a: DOID:1697 ! ichthyosis is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080077 name: hypophosphatemic nephrolithiasis/osteoporosis 1 def: "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12324554 "DO"] synonym: "NPHLOP1" EXACT [] xref: GARD:18346 xref: MESH:C567363 xref: MIM:612286 xref: MONDO:0012850 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080655 ! hypophosphatemic nephrolithiasis/osteoporosis [Term] id: DOID:0080078 name: hypophosphatemic nephrolithiasis/osteoporosis 2 def: "A hypophosphatemic nephrolithiasis/osteoporosis that has_material_basis_in heterozygous mutation in the SLC9A3R1 gene on chromosome 17q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31364377/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/18784102 "DO", https://www.nejm.org/doi/full/10.1056/NEJMoa020028 "DO"] synonym: "NPHLOP2" EXACT [] xref: MESH:C567362 xref: MIM:612287 xref: MONDO:0012851 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080655 ! hypophosphatemic nephrolithiasis/osteoporosis is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0080079 name: nonsyndromic congenital nail disorder 1 alt_id: DOID:0080088 alt_id: MIM:161050 def: "A nonsyndromic congenital nail disorder that is characterized by excessive longitudinal striations and numerous superficial pits on the nails, which have a distinctive rough, sand paper-like appearance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] synonym: "claw-shaped nails" EXACT [] synonym: "ISOLATED NAIL ANOMALY" EXACT [] synonym: "isolated onychodystrophy totalis" EXACT [] synonym: "NDNC10" EXACT [] synonym: "nonsyndromic congenital nail disorder 10" EXACT [] synonym: "twenty-nail dystrophy" EXACT [] xref: MESH:C562907 xref: ORDO:280654 xref: ORDO:79153 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder [Term] id: DOID:0080080 name: nonsyndromic congenital nail disorder 2 def: "A nonsyndromic congenital nail disorder that is characterized by nails that are abnormally thin and concave from side to side, with turned up edges. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] synonym: "KOILONYCHIA, HEREDITARY" EXACT [] synonym: "NDNC2" EXACT [] synonym: "SPOON NAILS" EXACT [] xref: MIM:149300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0080081 name: nonsyndromic congenital nail disorder 3 def: "A nonsyndromic congenital nail disorder that is characterized by white discoloration of the nails. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] synonym: "LEUKONYCHIA PUNCTATA" NARROW [] synonym: "LEUKONYCHIA TOTALIS AND/OR PARTIALIS" EXACT [] synonym: "NDNC3" EXACT [] synonym: "PORCELAIN NAILS LEUKONYCHIA STRIATUS" NARROW [] xref: MIM:151600 xref: MONDO:0007900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder is_a: DOID:9008749 ! Leukonychia Totalis [Term] id: DOID:0080082 name: nonsyndromic congenital nail disorder 4 alt_id: DOID:0050643 alt_id: MIM:206800 def: "A nonsyndromic congenital nail disorder that is characterized by complete absence or severe hypoplasia of all fingernails and toenails without significant bone anomalies, and that has_material_basis_in homozygous or compound heterozygous mutation in the R-spondin-4 gene on chromosome 20p13. (DO)" [https://ghr.nlm.nih.gov/condition/anonychia-congenita "DO", https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] synonym: "Anonychia" EXACT [] synonym: "ANONYCHIA/HYPONYCHIA CONGENITA" EXACT [] synonym: "anonychia congenita" EXACT [] synonym: "ANONYCHIA TOTALIS" EXACT [] synonym: "Hyponychia congenita" EXACT [] synonym: "NDNC4" EXACT [] xref: GARD:12930 xref: MESH:C536377 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0080083 name: nonsyndromic congenital nail disorder 5 alt_id: MIM:164800 def: "A nonsyndromic congenital nail disorder that is characterized by a decreased growth rate, thick and hard nails, and a straight or concave proximal edge of detachment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] synonym: "hereditary distal onycholysis" EXACT [] synonym: "NDNC5" EXACT [] synonym: "Partial Onycholysis with Scleronychia" EXACT [] xref: MESH:C563503 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder is_a: DOID:9000584 ! Onycholysis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0080084 name: nonsyndromic congenital nail disorder 6 def: "A nonsyndromic congenital nail disorder that is characterized by partial absences of nails. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] synonym: "ANONYCHIA/HYPONYCHIA AND ONYCHODYSTROPHY" EXACT [] synonym: "ANONYCHIA, PARTIAL" EXACT [] synonym: "NDNC6" EXACT [] xref: MIM:107000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0080085 name: nonsyndromic congenital nail disorder 7 alt_id: MIM:605779 def: "A nonsyndromic congenital nail disorder that is characterized by nails with longi- tudinal streaks, thinning of the nail plate, poorly developed or absent lunulae, along with variously disturbed formation of the nail plate leading to increased vulnerability of the free nail margins. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] synonym: "Nail Dysplasia, Isolated Congenital" EXACT [] synonym: "NDNC7" EXACT [] synonym: "Onychodysplasia, Isolated Congenital" EXACT [] xref: MESH:C538333 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder [Term] id: DOID:0080086 name: nonsyndromic congenital nail disorder 8 def: "A nonsyndromic congenital nail disorder that is characterized by dystrophy of the toenails only. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] synonym: "isolated toenail dystrophy" EXACT [] synonym: "NDNC8" EXACT [] xref: MESH:C564384 xref: MIM:607523 xref: MONDO:0011852 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder [Term] id: DOID:0080087 name: nonsyndromic congenital nail disorder 9 def: "A nonsyndromic congenital nail disorder that is characterized by normal nails at birth with dystrophic changes developing within the first decade of life, resulting in onycholysis of fingernails and anonychia of toenails. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] synonym: "ANONYCHIA-ONYCHOLYSIS, ISOLATED" EXACT [] synonym: "NAIL DYSPLASIA" EXACT [] synonym: "NDNC9" EXACT [] synonym: "ONYCHODYSTROPHY" EXACT [] xref: MIM:614149 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080683 ! nonsyndromic congenital nail disorder is_a: DOID:9000584 ! Onycholysis [Term] id: DOID:0080089 name: tubular aggregate myopathy 1 def: "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the STIM1 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ "DO"] synonym: "autosomal dominant myotubular myopathy" EXACT [] synonym: "TAM1" EXACT [] xref: MIM:160565 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002092 ! Tubular Aggregate Myopathies created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0080090 name: reducing body myopathy 1A alt_id: MIM:300717 def: "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with infantile or early childhood onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17099882/ "DO"] synonym: "RBMX1A" EXACT [] synonym: "severe X-linked reducing body myopathy 1A with infantile or early childhood onset" EXACT [] synonym: "severe X-linked reducing body myopathy, early-onset" EXACT [] xref: MESH:C567469 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:9002604 ! Reducing Body Myopathies [Term] id: DOID:0080092 name: myofibrillar myopathy 1 alt_id: DOID:0110286 alt_id: MESH:C563319 alt_id: MESH:C563784 def: "A myofibrillar myopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the desmin gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23687351 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 7" EXACT [] synonym: "arrhythmogenic right ventricular dysplasia, familial, 7" EXACT [] synonym: "ARVC7" EXACT [] synonym: "ARVD7" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy type 2R" EXACT [] synonym: "CDCD3" RELATED [] synonym: "CMD1F and LGMD1D" RELATED [] synonym: "DESMIN-MYOPATHY" RELATED [] synonym: "DESMIN-MYOPATHY WITH ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY" RELATED [] synonym: "desminopathy" EXACT [] synonym: "DESMINOPATHY, PRIMARY" EXACT [] synonym: "DESMIN-related myofibrillar myopathy" EXACT [] synonym: "Desmin-Related Myopathy" EXACT [] synonym: "Desmin-Related Myopathy with Arrhythmogenic Right Ventricular Cardiomyopathy" EXACT [] synonym: "dilated cardiomyopathy 1F" EXACT [] synonym: "dilated cardiomyopathy 1F and limb-girdle muscular dystrophy type 1D" RELATED [] synonym: "dilated cardiomyopathy with conduction defect and muscular dystrophy" RELATED [] synonym: "DRM" EXACT [] synonym: "IBM1" EXACT [] synonym: "inclusion body myopathy 1, autosomal dominant" EXACT [] synonym: "LGMD2R" RELATED [] synonym: "limb-girdle muscular dystrophy, type 2R" RELATED [] synonym: "MFM1" EXACT [] synonym: "myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy" EXACT [] synonym: "PROXIMAL MUSCLE WEAKNESS IN UPPER LIMBS" NARROW [] xref: MIM:601419 xref: ORDO:363543 xref: ORDO:98909 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0080093 name: myofibrillar myopathy 2 alt_id: MIM:608810 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the alpha-B-crystallin gene on chromosome 11q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14681890/ "DO"] synonym: "Alpha-B Crystallinopathy" EXACT [] synonym: "desmin-related myopathy, associated with mutation in the CRYAB gene" EXACT [] synonym: "MFM2" EXACT [] synonym: "myofibrillar myopathy, alpha-B crystallin-related" EXACT [] synonym: "myofibrillar myopathy, with or without cataract and/or cardiomyopathy" EXACT [] synonym: "Myopathy, Cardioskeletal, Desmin-Related, with Cataract" EXACT [] xref: MESH:C563848 xref: ORDO:399058 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:83 ! cataract [Term] id: DOID:0080094 name: myofibrillar myopathy 3 alt_id: DOID:0080091 alt_id: DOID:0110300 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10958653/ "DO", https://pubmed.ncbi.nlm.nih.gov/16380616/ "DO", https://pubmed.ncbi.nlm.nih.gov/30055862/ "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1A" EXACT [] synonym: "autosomal dominant spheroid body myopathy" EXACT [] synonym: "LGMD1" EXACT [] synonym: "LGMD 1A" EXACT [] synonym: "LGMD1A" EXACT [] synonym: "limb-girdle muscular dystrophy due to myotilin deficiency" EXACT [] synonym: "MFM3" EXACT [] synonym: "muscular dystrophy limb-girdle type 1A" EXACT [] synonym: "muscular dystrophy, limb-girdle, type1A" EXACT [] synonym: "muscular dystrophy, proximal, type 1A" EXACT [] synonym: "myofibrillar myopathy, myotilin-related" EXACT [] synonym: "myotilinopathy" EXACT [] synonym: "spheroid body myopathy" EXACT [] synonym: "URINARY BLADDER SPHINCTER DYSFUNCTION" NARROW [] xref: GARD:10229 xref: GARD:8711 xref: MESH:C000598645 xref: MESH:C535906 xref: MESH:C563775 xref: MIM:609200 xref: MONDO:0012215 xref: ORDO:266 xref: ORDO:268129 is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0080095 name: myofibrillar myopathy 4 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the ZASP gene on chromosome 10. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17337483/ "DO"] synonym: "LDB3-RELATED CONDITION" BROAD [] synonym: "MARKESBERY-GRIGGS DISTAL MYOPATHY" EXACT [] synonym: "MFM4" EXACT [] synonym: "zaspopathy" EXACT [] xref: MIM:609452 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0080096 name: myofibrillar myopathy 5 alt_id: MIM:609524 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15929027/ "DO"] synonym: "filamin C-related myofibrillar myopathy" EXACT [] synonym: "filaminopathy" EXACT [] synonym: "filaminopathy, autosomal dominant" EXACT [] synonym: "FLNB-related disorders" BROAD [] synonym: "MFM5" EXACT [] synonym: "MFM, filamin C-related" EXACT [] xref: MESH:C537932 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0080097 name: myofibrillar myopathy 6 alt_id: MIM:612954 alt_id: RDO:0009733 alt_id: RDO:0015757 def: "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the BAG3 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22734908/ "DO"] synonym: "BAG3-RELATED CONDITION" BROAD [] synonym: "BAG3-related myofibrillar myopathy" EXACT [] synonym: "MFM6" EXACT [] xref: MESH:C567843 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080307 ! myofibrillar myopathy [Term] id: DOID:0080098 name: myofibrillar myopathy 7 def: "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the KY gene on chromosome 3q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27484770/ "DO"] synonym: "MFM7" EXACT [] xref: MIM:617114 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:9008941 ! Muscle Hypertonia [Term] id: DOID:0080099 name: myopathy, lactic acidosis, and sideroblastic anemia def: "A mitochondrial myopathy that is characterized by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4253070/ "DO"] synonym: "HEREDITARY SIDEROBLASTIC ANEMIA WITH MYOPATHY AND LACTIC ACIDOSIS" EXACT [] synonym: "Mitochondrial myopathy and sideroblastic anemia" EXACT [] synonym: "MLASA" EXACT [] xref: MESH:C536101 xref: MIM:PS600462 xref: ORDO:2598 is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0080101 name: Compton-North congenital myopathy def: "A congenital myopathy that has_material_basis_in homozygous mutation in the CNTN1 gene on chromosome 12q12 and that is characterized antenatally, by fetal akinesia, intrauterine growth restriction and polyhydramnios, and, following birth, by severe neonatal hypotonia, severe generalized skeletal, bulbar and respiratory muscle weakness, multiple flexion contractures, and normal creatine kinase serum levels. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19026398/ "DO"] synonym: "CMYO12" EXACT [] synonym: "CMYP12" EXACT [] synonym: "congenital myopathy 12" EXACT [] synonym: "MYPCN" EXACT [] xref: MESH:C567261 xref: MIM:612540 xref: MONDO:0012929 xref: ORDO:210163 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0081337 ! congenital myopathy is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0080102 name: congenital myopathy 4A def: "A congenital myopathy that is characterized by skeletal muscle weakness, particularly in the muscles of the shoulders, upper arms, hips, and thighs. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-fiber-type-disproportion "DO"] synonym: "CFTD" EXACT [] synonym: "CMYO4A" EXACT [] synonym: "congenital fiber-type disproportion" EXACT [] synonym: "congenital myopathy 4A, autosomal dominant" EXACT [] synonym: "congenital myopathy with fiber-type disproportion" EXACT [] synonym: "SEPN1-related disorders" EXACT [] synonym: "SEVERE NEONATAL HYPOTONIA IMPROVING WITH AGE" EXACT [] xref: MIM:255310 xref: MONDO:0800341 xref: NCI:C120046 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:0081337 ! congenital myopathy created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:0080103 name: cylindrical spirals myopathy alt_id: MIM:160990 def: "A congenital myopathy that is characterized by global muscle weakness, hypotonia, myotonia and cramps in the presence of cylindrical, spiral-shaped inclusions. (DO)" [https://en.wikipedia.org/wiki/Congenital_myopathy#Cylindrical_spirals_myopathy "DO"] synonym: "myotonic myopathy with cylindrical spirals" EXACT [] xref: GARD:11906 xref: MESH:C563535 is_a: DOID:0081337 ! congenital myopathy is_a: DOID:450 ! myotonic disease [Term] id: DOID:0080105 name: microcephaly and chorioretinopathy 1 def: "A syndrome that is characterized by delayed psychomotor development and visual impairment, often accompanied by short stature and has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP6 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25344692 "DO"] synonym: "MCCRP1" EXACT [] synonym: "MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1" EXACT [] synonym: "microcephaly and chorioretinopathy with or without mental retardation" EXACT [] synonym: "Microcephaly and Chorioretinopathy with or without Mental Retardation, Autosomal Recessive" EXACT [] synonym: "microcephaly with chorioretinopathy, autosomal recessive" EXACT [] xref: MESH:C565379 xref: MIM:251270 xref: MONDO:0009624 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005482 ! Microcephaly and Chorioretinopathy [Term] id: DOID:0080106 name: microcephaly and chorioretinopathy 2 alt_id: RDO:9001672 def: "A syndrome that is characterized by delayed psychomotor development, visual impairment, and short stature and has_material_basis_in homozygous mutation in the PLK4 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25344692 "DO"] synonym: "MCCRP2" EXACT [] synonym: "Microcephaly and Chorioretinopathy, Autosomal Recessive, 2" EXACT [] synonym: "PLK4-RELATED CONDITION" EXACT [] xref: MIM:616171 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005482 ! Microcephaly and Chorioretinopathy created_by: rgd creation_date: 2017-05-08T00:00:00Z [Term] id: DOID:0080107 name: microcephaly and chorioretinopathy 3 alt_id: RDO:9000425 def: "A syndrome that is characterized by congenital microcephaly and chorioretinal dysplasia associated with poor vision and nystagmus and has_material_basis_in compound heterozygous mutation in the TUBGCP4 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25344692 "DO"] synonym: "AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME" EXACT [] synonym: "MCCRP3" EXACT [] synonym: "Microcephaly and Chorioretinopathy, Autosomal Recessive, 3" EXACT [] xref: MIM:616335 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005482 ! Microcephaly and Chorioretinopathy created_by: rgd creation_date: 2015-07-16T00:00:00Z [Term] id: DOID:0080108 name: myoglobinuria alt_id: DOID:9005068 def: "A myopathy that is characterized by an increased urinary excretion of myoglobin. (DO)" [https://books.google.com/books?id=BxWOErb3sEgC&pg=PA477&dq=myoglobinuria&hl=en&sa=X&ved=0CCoQ6AEwAmoVChMIiYqijYmJyQIVCGk-Ch3ROwQk#v=onepage&q=myoglobinuria&f=false "DO", https://www.ncbi.nlm.nih.gov/pubmed/9098484 "DO"] synonym: "myoglobinurias" EXACT [] xref: MESH:D009212 is_a: DOID:423 ! myopathy is_a: DOID:9000884 ! Rhabdomyolysis [Term] id: DOID:0080109 name: infantile myofibromatosis def: "A connective tissue benign neoplasm that is characterized by the development of benign tumors in the skin, striated muscles, bones, and in exceptional cases, visceral organs. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27259011/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23731542 "DO"] synonym: "CGF" EXACT [] synonym: "congenital generalized fibromatosis" EXACT [] synonym: "juvenile myofibromatosis" EXACT [] synonym: "lipofibromatosis" EXACT [] xref: GARD:2998 xref: MESH:C562978 xref: MIM:PS228550 xref: ORDO:2591 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:9003564 ! Myofibromatosis created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:0080110 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome alt_id: DOID:9000643 alt_id: MIM:265000 def: "A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits. (DO)" [http://rarediseases.org/rare-diseases/pterygium-syndrome-multiple/ "DO", https://en.wikipedia.org/wiki/Multiple_pterygium_syndrome "DO", https://ghr.nlm.nih.gov/condition/multiple-pterygium-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25957469 "DO"] synonym: "CHRNG-related disorder" BROAD [] synonym: "Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndromes" EXACT [] synonym: "Escobar syndrome" EXACT [] synonym: "EVMPS" EXACT [] synonym: "familial pterygium syndrome" EXACT [] synonym: "multiple pterygium syndrome" EXACT [] synonym: "multiple pterygium syndrome, Escobar type" EXACT [] synonym: "multiple pterygium syndrome, Escobar variant" EXACT [] synonym: "multiple pterygium syndrome, nonlethal type" EXACT [] synonym: "pterygium colli syndrome" EXACT [] synonym: "pterygium syndrome" EXACT [] synonym: "pterygium universale" EXACT [] xref: MESH:C537377 xref: MIM:PS178110 is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:8545 ! malignant hyperthermia is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080111 name: mitochondrial complex III deficiency nuclear type 1 alt_id: MIM:124000 def: "A mitochondrial complex III deficiency characterized by onset at birth of lactic acidosis, hypotonia, hypoglycemia, failure to thrive, encephalopathy, and delayed psychomotor development and that has_material_basis_in homozygous or compound heterozygous mutation in the nuclear-encoded BCS1L gene on chromosome 2q35. (DO)" [http://omim.org/entry/124000?search=124000&highlight=124000 "DO"] synonym: "BCS1L-related disorder" BROAD [] synonym: "DECREASED ACTIVITY OF MITOCHONDRIAL COMPLEX III" BROAD [] synonym: "MC3DN1" EXACT [] xref: MESH:C565128 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080112 name: mitochondrial complex III deficiency nuclear type 3 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRB gene on chromosome 8q22. (DO)" [http://omim.org/entry/615158?search=615158&highlight=615158 "DO"] synonym: "MC3DN3" EXACT [] xref: MIM:615158 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080113 name: mitochondrial complex III deficiency nuclear type 4 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCRQ gene on chromosome 5q31. (DO)" [http://omim.org/entry/615159?search=615159&highlight=615159 "DO"] synonym: "MC3DN4" EXACT [] xref: MIM:615159 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080114 name: mitochondrial complex III deficiency nuclear type 5 def: "A mitochondrial complex III deficiency characterized by neonatal onset of severe metabolic acidosis associated with hyperammonemia and hypoglycemia and that has_material_basis_in homozygous mutation in the UQCRC2 gene on chromosome 16p12. (DO)" [http://omim.org/entry/615160?search=615160&highlight=615160 "DO"] synonym: "MC3DN5" EXACT [] xref: MIM:615160 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080115 name: mitochondrial complex III deficiency nuclear type 6 def: "A mitochondrial complex III deficiency characterized by onset in early childhood of episodic acute lactic acidosis, ketoacidosis, and insulin-responsive hyperglycemia, usually associated with infection and that has_material_basis_in homozygous mutation in the CYC1 gene on chromosome 8q24. (DO)" [http://omim.org/entry/615453?search=615453&highlight=615453 "DO"] synonym: "MC3DN6" EXACT [] xref: MIM:615453 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080116 name: mitochondrial complex III deficiency nuclear type 7 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC2 gene on chromosome 6p21. (DO)" [http://omim.org/entry/615824?search=615824&highlight=615824 "DO"] synonym: "MC3DN7" EXACT [] xref: MIM:615824 is_a: DOID:0111139 ! mitochondrial complex III deficiency created_by: rgd creation_date: 2017-05-10T00:00:00Z [Term] id: DOID:0080117 name: mitochondrial complex III deficiency nuclear type 8 def: "A mitochondrial complex III deficiency characterized by childhood onset of progressive neurodegeneration that has_material_basis_in homozygous mutation in the LYRM7 gene on chromosome 5q23. (DO)" [http://omim.org/entry/615838?search=615838&highlight=615838 "DO"] synonym: "MC3DN8" EXACT [] xref: MIM:615838 is_a: DOID:0111139 ! mitochondrial complex III deficiency [Term] id: DOID:0080118 name: mitochondrial complex III deficiency nuclear type 9 def: "A mitochondrial complex III deficiency that has_material_basis_in homozygous mutation in the UQCC3 gene on chromosome 11q12. (DO)" [http://omim.org/entry/616111?search=616111&highlight=616111 "DO"] synonym: "MC3DN9" EXACT [] xref: MIM:616111 is_a: DOID:0111139 ! mitochondrial complex III deficiency created_by: rgd creation_date: 2017-05-10T00:00:00Z [Term] id: DOID:0080119 name: mitochondrial DNA depletion syndrome 1 def: "A mitochondrial DNA depletion syndrome that is characterized by onset between the second and fifth decades of life of ptosis, progressive external ophthalmoplegia, gastrointestinal dysmotility, cachexia, diffuse leukoencephalopathy, peripheral neuropathy, and mitochondrial dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear-encoded thymidine phosphorylase gene on chromosome 22q13. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome "DO", https://ghr.nlm.nih.gov/condition/mitochondrial-neurogastrointestinal-encephalopathy-disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/19056268 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301358 "DO", https://www.omim.org/entry/603041 "DO"] synonym: "mitochondrial DNA depletion syndrome 1 (MNGIE type)" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, TYMP-related" EXACT [] synonym: "MNGIE, TYMP-related" EXACT [] synonym: "MTDPS1" EXACT [] synonym: "TYMP-RELATED CONDITION" EXACT [] xref: GARD:9920 xref: MIM:603041 xref: NCI:C11967 xref: ORDO:298 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type [Term] id: DOID:0080120 name: mitochondrial DNA depletion syndrome 2 def: "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of muscle weakness associated with depletion of mtDNA in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial thymidine kinase gene on chromosome 16q21. (DO)" [https://ghr.nlm.nih.gov/condition/tk2-related-mitochondrial-dna-depletion-syndrome-myopathic-form "DO", https://www.ncbi.nlm.nih.gov/pubmed/2881246 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29735374 "DO"] synonym: "mitochondrial DNA depletion myopathy, TK2-related" EXACT [] synonym: "mitochondrial DNA depletion syndrome 2 (myopathic type)" EXACT [] synonym: "MTDPS2" EXACT [] synonym: "TK2-related mitochondrial DNA depletion syndrome, myopathic form" EXACT [] xref: MIM:609560 xref: NCI:C185236 xref: ORDO:254875 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002774 ! Mitochondrial DNA Depletion Syndrome, Myopathic Form [Term] id: DOID:0080121 name: mitochondrial DNA depletion syndrome 3 def: "A mitochondrial DNA depletion syndrome that is characterized by onset in infancy of progressive liver failure and neurologic abnormalities, hypoglycemia, and increased lactate in body fluids, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the deoxyguanosine kinase gene on chromosome 2p13. (DO)" [https://ghr.nlm.nih.gov/condition/deoxyguanosine-kinase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/24423689 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30589726 "DO"] synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" EXACT [] synonym: "mitochondrial DNA depletion syndrome 3, hepatocerebral" EXACT [] synonym: "MTDPS3" EXACT [] xref: GARD:13644 xref: MIM:251880 xref: MONDO:0009636 xref: ORDO:279934 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:13413 ! hepatic encephalopathy [Term] id: DOID:0080122 name: Alpers-Huttenlocher syndrome alt_id: DOID:1442 alt_id: MIM:203700 def: "A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/30103161 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30451971 "DO"] synonym: "Alper's disease" EXACT [] synonym: "Alper's syndrome" EXACT [] synonym: "Alper disease" EXACT [] synonym: "Alpers' disease or gray-matter degeneration" EXACT [] synonym: "Alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis" EXACT [] synonym: "Alpers disease" EXACT [] synonym: "Alpers progressive infantile poliodystrophy" EXACT [] synonym: "Alpers syndrome" EXACT [] synonym: "Alper syndrome" EXACT [] synonym: "diffuse cerebral scleroses" EXACT [] synonym: "Diffuse Cerebral Sclerosis" EXACT [] synonym: "Diffuse Cerebral Sclerosis of Schilder" EXACT [] synonym: "Encephalitis Periaxialis" EXACT [] synonym: "Encephalitis Periaxialis Concentrica" EXACT [] synonym: "Encephalitis Periaxialis Diffusa" EXACT [] synonym: "mitochondrial DNA depletion syndrome 4A" EXACT [] synonym: "mitochondrial DNA depletion syndrome 4A (Alpers type)" EXACT [] synonym: "MTDPS4A" EXACT [] synonym: "Myelinoclastic Diffuse Scleroses" EXACT [] synonym: "myelinoclastic diffuse sclerosis" EXACT [] synonym: "PNDC" EXACT [] synonym: "poliodystrophia cerebri" EXACT [] synonym: "progressive neuronal degeneration of childhood with liver disease" EXACT [] synonym: "progressive sclerosing poliodystrophies" EXACT [] synonym: "progressive sclerosing poliodystrophy" EXACT [] synonym: "Schilder's disease" EXACT [] synonym: "Schilder disease" EXACT [] synonym: "Schilders disease" EXACT [] synonym: "sudanophilic cerebral sclerosis" EXACT [] xref: GARD:5783 xref: ICD10CM:G31.81 xref: MESH:D002549 xref: NCI:C35257 xref: ORDO:726 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:1443 ! cerebral degeneration is_a: DOID:5082 ! liver cirrhosis is_a: DOID:890 ! mitochondrial encephalomyopathy is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080123 name: mitochondrial DNA depletion syndrome 4B def: "A mitochondrial DNA depletion syndrome that is characterized by chronic gastrointestinal dysmotility and pseudoobstruction, cachexia, progressive external ophthalmoplegia, axonal sensory ataxic neuropathy, and muscle weakness, and has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the mitochondrial DNA polymerase gamma gene on chromosome 15q26. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_neurogastrointestinal_encephalopathy_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/30385167 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30395865 "DO"] synonym: "mitochondrial DNA depletion syndrome 4B (MNGIE type)" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, POLG-related" EXACT [] synonym: "MNGIE, POLG-related" EXACT [] synonym: "MTDPS4B" EXACT [] xref: MIM:613662 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type [Term] id: DOID:0080124 name: mitochondrial DNA depletion syndrome 5 alt_id: MIM:612073 def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, progressive neurologic deterioration, a hyperkinetic-dystonic movement disorder, external ophthalmoplegia, deafness, and variable renal tubular dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the beta subunit of the succinate-CoA ligase gene on chromosome 13q14. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/24986829 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26952923 "DO"] synonym: "mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)" EXACT [] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with methylmalonic aciduria, autosomal recessive" EXACT [] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with or without methylmalonic aciduria, autosomal recessive, SUCLA2-related" EXACT [] synonym: "MTDPS5" EXACT [] xref: MESH:C567624 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:890 ! mitochondrial encephalomyopathy is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0080125 name: mitochondrial DNA depletion syndrome 6 alt_id: MIM:256810 def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of progressive liver failure, often leading to death in the first year of life, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the mitochondrial inner membrane protein MPV17 gene on chromosome 2p23. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/mpv17-related-hepatocerebral-mitochondrial-dna-depletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/29282788 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30298599 "DO"] synonym: "mitochondrial DNA depletion syndrome 6 (hepatocerebral type)" EXACT [] synonym: "MPV17-associated hepatocerebral MDS" EXACT [] synonym: "MPV17-Related Hepatocerebral Mitochondrial DNA Depletion Syndrome" EXACT [] synonym: "MPV17-RELATED MITOCHONDRIAL DNA MAINTENANCE DEFECT" EXACT [] synonym: "MTDPS6" EXACT [] synonym: "Navajo Familial Neurogenic Arthropathy" EXACT [] synonym: "Navajo neurohepatopathy" EXACT [] synonym: "NAVAJO NEUROPATHY" NARROW [] synonym: "NN" NARROW [] synonym: "NNH" EXACT [] xref: GARD:3972 xref: MESH:C538344 xref: ORDO:255229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:409 ! liver disease is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0080126 name: mitochondrial DNA depletion syndrome 7 alt_id: DOID:0050556 alt_id: MIM:271245 alt_id: RDO:0000683 alt_id: RDO:0008489 alt_id: RDO:9004561 def: "A mitochondrial DNA depletion syndrome that is characterized by progressive ataxia, hypotonia, hyporeflexia, athetosis and sensory impairment and has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the C10ORF2 gene, which encodes the twinkle and twinky proteins, on chromosome 10q24. (DO)" [https://ghr.nlm.nih.gov/condition/infantile-onset-spinocerebellar-ataxia "DO", https://www.ncbi.nlm.nih.gov/pubmed/18775955 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30391088 "DO"] synonym: "infantile onset spinocerebellar ataxia" EXACT [] synonym: "IOSCA" EXACT [] synonym: "mitochondrial DNA depletion syndrome 7 (hepatocerebral type)" EXACT [] synonym: "MITOCHONDRIAL HEPATOPATHY" EXACT [] synonym: "MTDPS7" EXACT [] synonym: "OHAHA syndrome" EXACT [] synonym: "ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis" EXACT [] synonym: "ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis" EXACT [] synonym: "SCA8 (formerly)" RELATED [] synonym: "spinocerebellar ataxia 8 (formerly)" RELATED [] synonym: "spinocerebellar ataxia infantile with sensory neuropathy" EXACT [] xref: GARD:4062 xref: MESH:C535523 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:9003453 ! Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive [Term] id: DOID:0080127 name: mitochondrial DNA depletion syndrome 8A alt_id: MIM:612075 def: "A mitochondrial DNA depletion syndrome that is characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the ribonucleotide reductase regulatory TP53 inducible subunit M2B gene on chromosome 8q22. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/rrm2b-related-mitochondrial-dna-depletion-syndrome-encephalomyopathic-form-with-renal-tubulopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/24741716 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30439532 "DO"] synonym: "encephalomyopathic mitochondrial DNA depletion syndrome with renal tubulopathy, autosomal recessive" NARROW [] synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" EXACT [] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form, with renal tubulopathy, autosomal recessive" EXACT [] synonym: "mitochondrial myopathy with sensorimotor polyneuropathy, ophthalmoplegia, and pseudo-obstruction" EXACT [] synonym: "Mitochondrial Neurogastrointestinal Encephalopathy Disease" EXACT [] synonym: "Mitochondrial Neurogastrointestinal Encephalopathy Syndrome" EXACT [] synonym: "mitochondrial neurogastrointestinal syndrome" NARROW [] synonym: "MNGIE Disease" EXACT [] synonym: "MNGIE, RRM2B-related" NARROW [] synonym: "MNGIE without leukoencephalopathy" EXACT [] synonym: "MTDPS8A" EXACT [] synonym: "oculogastrointestinal muscular dystrophy" EXACT [] synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction" EXACT [] synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" EXACT [] synonym: "RRM2B-related mitochondrial disease" BROAD [] synonym: "RRM2B-related mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT [] synonym: "thymidine phosphorylase deficiency" EXACT [] xref: GARD:13200 xref: MESH:C537477 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:225 ! syndrome is_a: DOID:890 ! mitochondrial encephalomyopathy is_a: DOID:9001263 ! Mitochondrial DNA Depletion Syndrome, MNGIE Type [Term] id: DOID:0080128 name: mitochondrial DNA depletion syndrome 9 def: "A mitochondrial DNA depletion syndrome that is characterized by infantile onset of hypotonia, lactic acidosis, severe psychomotor retardation, progressive neurologic deterioration, and excretion of methylmalonic acid, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the alpha subunit of the succinate-CoA ligase gene on chromosome 2p11. (DO)" [https://en.wikipedia.org/wiki/Mitochondrial_DNA_depletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/succinate-coa-ligase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29217198 "DO"] synonym: "fatal infantile lactic acidosis" EXACT [] synonym: "Mitochondrial DNA Depletion Syndrome 9 (Encephalomyopathic Type with Methylmalonic Aciduria)" EXACT [] synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)" EXACT [] synonym: "MTDPS9" EXACT [] xref: MESH:C566885 xref: MIM:245400 xref: MONDO:0009504 xref: NCI:C183531 xref: ORDO:17 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:3650 ! lactic acidosis is_a: DOID:9007007 ! Succinate-Coa Ligase Deficiency [Term] id: DOID:0080129 name: mitochondrial DNA depletion syndrome 11 alt_id: RDO:9000571 def: "A mitochondrial DNA depletion syndrome that is characterized by onset in childhood or adulthood of progressive external ophthalmoplegia (PEO), muscle weakness and atrophy, exercise intolerance, and respiratory insufficiency due to muscle weakness, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial genome maintenance exonuclease 1 gene on chromosome 20p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23313956 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO"] synonym: "MTDPS11" EXACT [] synonym: "progressive external ophthalmoplegia-myopathy-emaciation syndrome" EXACT [] xref: MIM:615084 xref: ORDO:352447 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:539 ! ophthalmoplegia is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0080130 name: mitochondrial DNA depletion syndrome 12a alt_id: RDO:9000942 alt_id: RDO:9001714 def: "A mitochondrial DNA depletion syndrome that is characterized by severe hypotonia due to mitochondrial dysfunction apparent at birth and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 25 member 4 gene on chromosome 4q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27693233 "DO"] synonym: "autosomal dominant mitochondrial DNA depletion syndrome-12A" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12" BROAD [] synonym: "mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant" EXACT [] synonym: "MTDPS12" BROAD [] synonym: "MTDPS12A" EXACT [] xref: MIM:617184 xref: NCI:C129977 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0080131 name: mitochondrial DNA depletion syndrome 13 alt_id: RDO:9000956 def: "A mitochondrial DNA depletion syndrome that is characterized by early infantile onset of encephalopathy, hypotonia, lactic acidosis, and severe global developmental delay, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the F-box and leucine-rich repeat protein 4 gene on chromosome 6q16. (DO)" [https://ghr.nlm.nih.gov/condition/fbxl4-related-encephalomyopathic-mitochondrial-dna-depletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/26404457 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28940506 "DO"] synonym: "FBXL4 deficiency" EXACT [] synonym: "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" EXACT [] synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" EXACT [] synonym: "MTDPS13" EXACT [] xref: GARD:13298 xref: MIM:615471 xref: NCI:C172095 xref: ORDO:369897 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0080132 name: Sengers syndrome alt_id: MIM:212350 alt_id: RDO:0004242 def: "A mitochondrial DNA depletion syndrome that is characterized by congenital cataracts, hypertrophic cardiomyopathy, skeletal myopathy, exercise intolerance, and lactic acidosis, but normal mental development, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the acylglycerol kinase gene on chromosome 7q34. (DO)" [https://en.wikipedia.org/wiki/Sengers_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/28712724 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29682452 "DO"] synonym: "AGK-related disorder" NARROW [] synonym: "AGK-related disorders" NARROW [] synonym: "cataract and cardiomyopathy" EXACT [] synonym: "mitochondrial DNA depletion syndrome 10" EXACT [] synonym: "mitochondrial DNA depletion syndrome 10 (cardiomyopathic type)" EXACT [] synonym: "MTDPS10" EXACT [] xref: GARD:1142 xref: MESH:C538280 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:83 ! cataract [Term] id: DOID:0080133 name: multiple mitochondrial dysfunctions syndrome 1 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by weakness, respiratory failure, lack of neurologic development, lactic acidosis, and early death, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the NFU1 iron-sulfur cluster scaffold gene on chromosome 2p13. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22077971 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28470589 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29441221 "DO"] synonym: "MMDS1" EXACT [] synonym: "NFU1 deficiency" EXACT [] synonym: "NFU1-RELATED CONDITION" EXACT [] xref: MIM:605711 xref: MONDO:0011582 xref: ORDO:401869 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080134 name: multiple mitochondrial dysfunctions syndrome 2 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by increased serum glycine and lactate, developmental regression in infancy, an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the bolA family member 3 gene on chromosome 2p13. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-mitochondrial-dysfunctions-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22562699 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24334290 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29654549 "DO"] synonym: "BOLA3 deficiency" EXACT [] synonym: "MMDS2" EXACT [] synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" EXACT [] xref: MIM:614299 xref: ORDO:401874 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome is_a: DOID:9268 ! glycine encephalopathy [Term] id: DOID:0080135 name: multiple mitochondrial dysfunctions syndrome 3 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by loss of previously acquired developmental milestones in the first months or years of life, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly factor IBA57 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27785568 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28671726 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28913435 "DO"] synonym: "IBA57 deficiency" EXACT [] synonym: "MMDS3" EXACT [] xref: MIM:615330 xref: ORDO:363424 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080136 name: multiple mitochondrial dysfunctions syndrome 4 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by normal development for the first months of life, followed by progressive loss of motor and social skills with hypotonia, spasticity, and nystagmus, resulting in death in early childhood, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the iron-sulfur cluster assembly 2 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25539947 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29122497 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29297947 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29359243 "DO"] synonym: "MMDS4" EXACT [] xref: MIM:616370 xref: ORDO:457406 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:0080137 name: multiple endocrine neoplasia type 4 alt_id: MIM:610755 def: "A multiple endocrine neoplasia that is characterized by hyperparathyroidism and multiple endocrine tumors and that has_material_basis_in mutations in the CDKN1B gene on chromosome 12p13 resulting in a reduction in the amount of functional p27 tumor suppressor protein which allows cells to grow and divide unchecked. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO"] synonym: "MEN4" EXACT [] synonym: "multiple endocrine neoplasia, type IV" EXACT [] xref: MESH:C567059 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:0080138 name: multiple congenital anomalies-hypotonia-seizures syndrome 1 alt_id: RDO:9000575 def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21493957 "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 3" EXACT [] synonym: "GPIBD3" EXACT [] synonym: "MCAHS1" EXACT [] xref: MIM:614080 xref: NCI:C176896 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome [Term] id: DOID:0080139 name: multiple congenital anomalies-hypotonia-seizures syndrome 2 alt_id: DOID:0080466 def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10441586 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22305531 "DO"] synonym: "DEE20" EXACT [] synonym: "developmental and epileptic encephalopathy 20" EXACT [] synonym: "early infantile epileptic encephalopathy 20" EXACT [] synonym: "EIEE20" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 4" EXACT [] synonym: "GPIBD4" EXACT [] synonym: "MCAHS2" EXACT [] xref: GARD:12777 xref: MIM:300868 xref: ORDO:300496 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080140 name: multiple congenital anomalies-hypotonia-seizures syndrome 3 alt_id: DOID:9001439 def: "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and that has_material_basis_in homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36177944/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21493957 "DO"] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 7" EXACT [] synonym: "GPIBD7" EXACT [] synonym: "Light Fixation Seizure Syndrome" EXACT [] synonym: "MCAHS3" EXACT [] synonym: "M Syndrome" EXACT [] synonym: "PIGT-RELATED DISORDER" BROAD [] xref: MESH:C566367 xref: MIM:615398 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080141 name: mosaic variegated aneuploidy syndrome 1 def: "A mosaic variegated aneuploidy syndrome that is characterized by slow growth before and after birth, shorter than average height, unusually small head size, and an increased risk of developing cancer in childhood, and that has_material_basis_in homozygous or compound heterozygous mutation in the BUB1B gene on chromosome 15q15. (DO)" [https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome "DO"] synonym: "chromosomal mosaicism due to mitotic instability" EXACT [] synonym: "instability mitotic non disjunction syndrome" EXACT [] synonym: "MVA1" EXACT [] synonym: "MVA syndrome" EXACT [] xref: MIM:257300 xref: NCI:C128192 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0080142 name: mosaic variegated aneuploidy syndrome 2 def: "A mosaic variegated aneuploidy syndrome that is characterized by slowly before and after birth and typically normal head size and that has_material_basis_in homozygous or compound heterozygous mutation in the CEP57 gene on chromosome 11q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21552266/ "DO"] synonym: "MVA2" EXACT [] xref: MIM:614114 xref: NCI:C168989 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0080143 name: congenital fibrosis of the extraocular muscles def: "An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-fibrosis-of-the-extraocular-muscles#synonyms "DO", https://www.ncbi.nlm.nih.gov/books/NBK1348/ "DO"] synonym: "CFEOM" EXACT [] synonym: "congenital external ophthalmoplegia" EXACT [] synonym: "congenital fibrosis of extraocular muscles" EXACT [] synonym: "congenital fibrosis syndrome" EXACT [] synonym: "congenital ophthalmoplegia" EXACT [] synonym: "general fibrosis syndrome" EXACT [] xref: EFO:1001985 xref: GARD:12590 xref: MESH:C580012 xref: MIM:PS135700 xref: ORDO:45358 is_a: DOID:0080015 ! physical disorder is_a: DOID:1279 ! ocular motility disease is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:0080144 name: childhood acute lymphocytic leukemia def: "An acute lymphocytic leukemia occurring during childhood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.04d&ns=NCI_Thesaurus&code=C3168&key=736438179&b=1&n=null "DO"] synonym: "childhood acute lymphoblastic leukemia" EXACT [] synonym: "childhood ALL" EXACT [] xref: ICD-O:M9835/3 xref: MONDO:0000870 xref: NCI:C3168 is_a: DOID:9952 ! acute lymphoblastic leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080145 name: childhood T-cell acute lymphoblastic leukemia alt_id: DOID:7933 def: "A childhood acute lymphoblastic leukemia that has_material_basis_in T-cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C7953 "DO"] synonym: "childhood precursor T-lymphoblastic lymphoma/leukemia" EXACT [] synonym: "EFO:1001947" EXACT [] synonym: "T-cell childhood acute lymphocytic leukemia" EXACT [] xref: EFO:0000207 xref: EFO:1001947 xref: ICD-O:M9831/3 xref: ICD-O:M9837/3 xref: MONDO:0044917 xref: NCI:C5640 xref: NCI:C7953 is_a: DOID:0080144 ! childhood acute lymphocytic leukemia is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080146 name: childhood B-cell acute lymphoblastic leukemia def: "A childhood acute lymphoblastic leukemia that has_material_basis_in B-cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.07d&ns=NCI_Thesaurus&code=C9140 "DO"] synonym: "EFO:1001946" EXACT [] xref: EFO:1001946 xref: ICD-O:M9836/3 xref: MONDO:0000872 xref: NCI:C9140 is_a: DOID:0080144 ! childhood acute lymphocytic leukemia is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080147 name: lymphoblastic lymphoma def: "A lymphoma that has_material_basis_in immature malignant lymphocytes (lymphoblasts) committed to the B-cell or T-cell lineage and located_in primarily lymph nodes or located_in extranodal sites. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7055 "DO"] xref: GARD:3329 xref: NCI:C9360 xref: RDO:9002205 is_a: DOID:0060058 ! lymphoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080148 name: T-cell childhood lymphoblastic lymphoma def: "A lymphoblastic lymphoma that has_material_basis_in T-cells and that occurs during childhood. (DO)" [https://www.dana-farber.org/cancer-care/types/childhood-lymphoblastic-lymphoma "DO"] synonym: "childhood T lymphoblastic lymphoma" EXACT [] synonym: "EFO:1001948" EXACT [] xref: EFO:1001948 xref: ICD-O:M9729/3 xref: NCI:C7210 is_a: DOID:0080147 ! lymphoblastic lymphoma is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:0080149 name: adult acute monocytic leukemia def: "An acute monocytic leukemia occurring in adults. (DO)" [https://en.wikipedia.org/wiki/Acute_monocytic_leukemia "DO"] synonym: "EFO:1001933" EXACT [] xref: EFO:1001933 xref: NCI:C8263 is_a: DOID:8864 ! acute monocytic leukemia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0080150 name: adrenocorticotropic hormone deficiency alt_id: MIM:201400 def: "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland. (DO)" [https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/27041067 "DO"] synonym: "ACTH deficiency" EXACT [] synonym: "IAD" EXACT [] synonym: "isolated ACTH deficiency" EXACT [] xref: EFO:1001979 xref: MESH:C535668 xref: MESH:C562707 is_a: DOID:630 ! genetic disease is_a: DOID:9008622 ! Adrenal Insufficiency is_a: DOID:9406 ! hypopituitarism is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:0080153 name: medium chain acyl-CoA dehydrogenase deficiency alt_id: MIM:201450 def: "A lipid metabolism disorder that is characterized by a deficiency of the enzyme medium chain acyl-CoA dehydrogenase that results in the inability to convert medium chain fatty acids to energy, particularly during fasting. (DO)" [http://rarediseases.org/rare-diseases/medium-chain-acyl-coa-dehydrogenase-deficiency/ "DO", https://ghr.nlm.nih.gov/condition/medium-chain-acyl-coa-dehydrogenase-deficiency "DO"] synonym: "ACADMD" EXACT [] synonym: "ACADM Deficiency" EXACT [] synonym: "Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency of" EXACT [] synonym: "Carnitine Deficiency Secondary To Medium-Chain Acyl-Coa Dehydrogenase Deficiency" EXACT [] synonym: "MCAD Deficiency" EXACT [] synonym: "MCAD deficiency, modifier of" RELATED [] synonym: "MCADH Deficiency" EXACT [] synonym: "Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency" EXACT [] xref: GARD:540 xref: MESH:C536038 xref: NCI:C84538 xref: ORDO:42 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0080154 name: short chain acyl-CoA dehydrogenase deficiency alt_id: MIM:201470 def: "A lipid metabolism disorder that is characterized by deficiency of the enzyme short chain acyl-CoA dehydrogenase that results in the inability to convert short chain fatty acids. (DO)" [http://rarediseases.org/rare-diseases/short-chain-acyl-coa-dehydrogenase-deficiency-scad/ "DO"] synonym: "ACADSD" EXACT [] synonym: "Acads Deficiency" EXACT [] synonym: "Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of" EXACT [] synonym: "Deficiency of Butyryl-Coa Dehydrogenase" EXACT [] synonym: "Lipid-Storage Myopathy Secondary to Short-Chain Acyl-Coa Dehydrogenase Deficiency" EXACT [] synonym: "Scad Deficiency" EXACT [] synonym: "Scadh Deficiency" EXACT [] synonym: "short-chain acyl-Coenzyme A dehydrogenase deficiency" EXACT [] xref: GARD:4822 xref: MESH:C537596 xref: NCI:C84539 xref: ORDO:26792 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0080155 name: very long chain acyl-CoA dehydrogenase deficiency alt_id: MIM:201475 alt_id: OMIA:002140 def: "A lipid metabolism disorder that is characterized by deficiency of the enzyme very long chain acyl-CoA dehydrogenase that results in the inability to convert very long chain fatty acids. (DO)" [http://rarediseases.org/rare-diseases/very-long-chain-acyl-coa-dehydrogenase-deficiency-lcad/ "DO", https://ghr.nlm.nih.gov/condition/very-long-chain-acyl-coa-dehydrogenase-deficiency "DO"] synonym: "ACADVL" EXACT [] synonym: "ACADVLD" EXACT [] synonym: "deficiency of very long-chain Acyl-CoA dehydrogenase" EXACT [] synonym: "exercise induced metabolic myopathy" RELATED [] synonym: "very long-chain Acyl Coenzyme A dehydrogenase deficiency" EXACT [] synonym: "VLCAD-C" EXACT [] synonym: "VLCAD deficiency" EXACT [] synonym: "VLCAD-H" EXACT [] xref: GARD:5508 xref: MESH:C536353 xref: NCI:C98647 xref: ORDO:26793 is_a: DOID:0080000 ! muscular disease is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0080156 name: X-linked adrenal hypoplasia congenita alt_id: MIM:300200 def: "An adrenal cortical hypofunction that is characterized by a reduction in adrenal gland function resulting from incomplete development of the adrenal cortex and has_material_basis_in the nuclear receptor NR0B1 (DAX1) gene. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1431/ "DO", https://en.wikipedia.org/wiki/X-linked_adrenal_hypoplasia_congenita "DO", https://ghr.nlm.nih.gov/condition/x-linked-adrenal-hypoplasia-congenita#genes "DO", https://www.ncbi.nlm.nih.gov/pubmed/27376611 "DO"] synonym: "adrenal hypoplasia congenita" EXACT [] synonym: "AHC" EXACT [] synonym: "AHCH" EXACT [] synonym: "AHC WITH HHG" EXACT [] synonym: "AHC with isolated gonadotropin deficiency" EXACT [] synonym: "AHX" EXACT [] synonym: "congenital adrenal hypoplasia" EXACT [] synonym: "congenital adrenal hypoplasia with hypogonadotropic hypogonadism" EXACT [] synonym: "cytomegalic adrenocortical hypoplasia" EXACT [] synonym: "X-linked Addison disease" EXACT [] synonym: "X-linked congenital adrenal hypoplasia" EXACT [] xref: GARD:555 xref: MESH:C536757 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10493 ! adrenal cortical hypofunction is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:0080158 name: herpes simplex virus keratitis def: "A keratitis that has_material_basis_in herpes simplex type infection. (DO)" [http://www.aao.org/eye-health/diseases/herpes-keratitis "DO"] synonym: "herpes simplex keratitides" EXACT [] synonym: "Herpes Simplex Keratitis" EXACT [] synonym: "Herpetic Keratitides" EXACT [] synonym: "Herpetic Stromal Keratitis" RELATED [] synonym: "HSK" RELATED [] synonym: "Keratitis, Herpetic" EXACT [] synonym: "ocular herpes simplex" EXACT [] xref: EFO:0007308 xref: MESH:D016849 is_a: DOID:4677 ! keratitis is_a: DOID:8566 ! herpes simplex is_a: DOID:9005295 ! Viral Eye Infections [Term] id: DOID:0080159 name: cryptococcal meningitis def: "A fungal meningitis that has_material_basis_in Crypococcus fungal infection. (DO)" [https://medlineplus.gov/ency/article/000642.htm "DO"] synonym: "cerebral cryptococcoses" EXACT [] synonym: "Cerebral Cryptococcosis" EXACT [] synonym: "Cryptococcal Meningitides" EXACT [] synonym: "Granulomous Cerebral Cryptococcoses" EXACT [] synonym: "Granulomous Cerebral Cryptococcosis" EXACT [] synonym: "Toruloma" EXACT [] synonym: "torulomas" EXACT [] xref: EFO:0007228 xref: MESH:D016919 is_a: DOID:11608 ! fungal meningitis is_a: DOID:12053 ! cryptococcosis [Term] id: DOID:0080160 name: cytomegalovirus retinitis def: "A retinitis that has_material_basis_in Cytomegalovirus. (DO)" [https://medlineplus.gov/ency/article/000665.htm "DO"] synonym: "CMV retinitis" EXACT [] synonym: "cytomegaloviral retinitis" EXACT [] xref: EFO:1001302 xref: GARD:9531 xref: MESH:D017726 is_a: DOID:3612 ! retinitis is_a: DOID:9005295 ! Viral Eye Infections is_a: DOID:9006262 ! Cytomegalovirus Infections [Term] id: DOID:0080161 name: cutaneous candidiasis def: "A candidiasis that is characterized by Candida infection located_in the skin. (DO)" [https://medlineplus.gov/ency/article/000880.htm "DO"] synonym: "cutaneous candidiases" EXACT [] synonym: "cutaneous moniliases" EXACT [] synonym: "cutaneous moniliasis" EXACT [] xref: MESH:D002179 is_a: DOID:1508 ! candidiasis is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:0080162 name: lupus nephritis alt_id: DOID:9004124 def: "A glomerulonephritis that is characterized by inflammation of the kidneys resulting from systemic lupus erythematosus. (DO)" [https://en.wikipedia.org/wiki/Lupus_nephritis#cite_note-1 "DO", https://medlineplus.gov/ency/article/000481.htm "DO"] synonym: "Lupus Glomerulonephritides" EXACT [] synonym: "Lupus Glomerulonephritis" EXACT [] synonym: "Lupus Nephritides" EXACT [] synonym: "lupus nephritis, susceptibility to" RELATED [] synonym: "SLEN1" RELATED [] synonym: "SLEN2" RELATED [] synonym: "SLEN3" RELATED [] synonym: "SLE nephritis" EXACT [] synonym: "Systemic Lupus Erythematosus with Nephritis" EXACT [] synonym: "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 1" RELATED [] synonym: "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 2" RELATED [] synonym: "Systemic Lupus Erythematosus with Nephritis, Susceptibility To, 3" RELATED [] xref: EFO:0005761 xref: GARD:10747 xref: MESH:D008181 xref: MIM:607965 xref: MIM:607966 xref: MIM:607967 is_a: DOID:10952 ! nephritis is_a: DOID:2921 ! glomerulonephritis is_a: DOID:9074 ! systemic lupus erythematosus [Term] id: DOID:0080163 name: otulipenia def: "An immune system disease that is characterized by neonatal onset of recurrent fever, erythematous rash with painful nodules, painful joints, and lipodystrophy and has_material_basis_in autosomal recessive inheritance of homozygous loss-of-function mutations in the OTULIN gene encoding a deubiquitinase with linear linkage specificity on chromosome 5p15. (DO)" [http://www.omim.org/entry/617099?search=617099&highlight=617099 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27523608 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27559085 "DO", https://www.nih.gov/news-events/news-releases/nih-researchers-discover-otulipenia-new-inflammatory-disease "DO"] synonym: "AIPDS" EXACT [] synonym: "autoinflammation, panniculitis, and dermatosis syndrome" EXACT [] synonym: "ORAS" EXACT [] synonym: "otulin-autoinflammatory syndrome" EXACT [] synonym: "OTULIN-RELATED AUTOINFLAMMATORY SYNDROME" EXACT [] xref: GARD:13198 xref: MIM:617099 xref: NCI:C174441 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1526 ! panniculitis is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:0080164 name: myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 def: "A myeloid neoplasm that is characterized by the formation of abnormal fusion genes that encode constitutively activated tyrosine kinases. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19357394 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23489324 "DO"] synonym: "Myeloid and lymphoid neoplasms with eosinophilia and abnormalities of platelet-derived growth factor receptor alpha (PDGFRA), platelet-derived growth factor receptor beta (PDGFRB), and fibroblast growth factor receptor-1 (FGFR1) are a group of hematologic neoplasms" EXACT [] synonym: "Myeloid and Lymphoid Neoplasms with Eosinophilia and Rearrangement of PDGFRA, PDGFRB, or FGFR1, or with PCM1-JAK2" EXACT [] xref: NCI:C84270 is_a: DOID:0070004 ! myeloid neoplasm created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080165 name: myeloid and lymphoid neoplasms associated with PDGFRA rearrangement def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRA gene, most often resulting in the formation of FIP1L1-PDGFRA fusion transcripts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84275&key=n472778324&b=1&n=null "DO"] synonym: "myeloid and lymphoid neoplasms with PDGFRA rearrangement" EXACT [] xref: NCI:C84275 is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080166 name: myeloid and lymphoid neoplasms associated with PDGFRB rearrangement def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the PDGFRB gene, most often resulting in the formation of ETV6-PDGFRB fusion transcripts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84276&key=n472778324&b=1&n=null "DO"] synonym: "myeloid and lymphoid neoplasms with PDGFRB rearrangement" EXACT [] synonym: "myeloid neoplasms associated with PDGFRB rearrangement" EXACT [] xref: NCI:C84276 is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080167 name: myeloid and lymphoid neoplasms associated with FGFR1 abnormalities def: "A myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 that is characterized by the rearrangement of the FGFR1 gene, resulting in translocations with an 8p11 breakpoint. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.11d&ns=NCI_Thesaurus&code=C84277&key=n472778324&b=1&n=null "DO"] xref: NCI:C84277 is_a: DOID:0080164 ! myeloid and lymphoid neoplasms with eosinophilia and abnormalities of PDGFRA, PDGFRB, and FGFR1 created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080169 name: tricuspid atresia alt_id: MIM:605067 def: "A tricuspid valve disease characterized by a missing or abnormally developed tricuspid heart value at birth. (DO)" [https://medlineplus.gov/ency/article/001110.htm "DO"] synonym: "Absent Right Atrioventricular Connection" EXACT [] synonym: "tricuspid atresias" EXACT [] synonym: "Tricuspid Valve Atresia" EXACT [] synonym: "tricuspid valve atresias" EXACT [] xref: GARD:5274 xref: MESH:D018785 xref: NCI:C85202 is_a: DOID:0050826 ! tricuspid valve disease is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:0080170 name: normophosphatemic familial tumoral calcinosis alt_id: MIM:610455 def: "A calcinosis that is characterized by massive periarticular, and seldom visceral, deposition of calcified tumors. (DO)" [https://en.wikipedia.org/wiki/Normophosphatemic_familial_tumoral_calcinosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/21160498 "DO"] synonym: "familial tumoral calcinosis" BROAD [] synonym: "NFTC" EXACT [] synonym: "tumoral calcinosis with normophosphatemia" EXACT [] xref: GARD:10878 xref: MESH:C566473 is_a: DOID:182 ! calcinosis [Term] id: DOID:0080171 name: esophageal atresia/tracheoesophageal fistula alt_id: MIM:189960 def: "A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. (DO)" [https://ghr.nlm.nih.gov/condition/esophageal-atresia-tracheoesophageal-fistula "DO"] synonym: "Ea-Tef" EXACT [] synonym: "esophageal atresia and/or tracheoesophageal fistula" EXACT [] synonym: "esophageal atresia with or without tracheoesophageal fistula" EXACT [] synonym: "tracheoesophageal fistula with or without esohageal atresia" EXACT [] xref: GARD:7792 xref: MESH:C531835 is_a: DOID:10485 ! esophageal atresia is_a: DOID:9008498 ! Tracheoesophageal Fistula [Term] id: DOID:0080172 name: poor metabolism of thiopurines def: "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines. (DO)" [https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics "DO"] synonym: "6 alpha mercaptopurine sensitivity" EXACT [] synonym: "azathioprine intolerance" RELATED [] synonym: "thiopurine methyltransferase deficiency" EXACT [] synonym: "thiopurine S-methyltransferase deficiency" EXACT [] synonym: "TPMTD" EXACT [] synonym: "TPMT deficiency" EXACT [] xref: MESH:C536512 xref: MIM:PS610460 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060500 ! drug allergy is_a: DOID:653 ! purine-pyrimidine metabolic disorder is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080173 name: bladder exstrophy-epispadias-cloacal exstrophy complex alt_id: MIM:258040 def: "A physical disorder that is characterized as a spectrum of anomalies involving the urinary tract, genital tract, musculoskeletal system and sometimes the intestinal tract. (DO)" [https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22055685 "DO"] synonym: "Bladder Exstrophy and Epispadias Complex" EXACT [] synonym: "exstrophy-epispadias complex" EXACT [] xref: MESH:C564009 xref: ORDO:322 is_a: DOID:0080015 ! physical disorder is_a: DOID:9000336 ! Epispadias [Term] id: DOID:0080174 name: bladder exstrophy alt_id: MIM:600057 def: "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by an evaginated bladder plate, epispadias and an anterior defect of the pelvis, pelvic floor and abdominal wall. The rear portion of the bladder wall (posterior vesical wall) turns outward (exstrophy) through an opening in the abdominal wall and urine is excreted through this opening. (DO)" [https://en.wikipedia.org/wiki/Bladder_exstrophy "DO", https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21929991 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22055685 "DO"] synonym: "bladder exstrophies" EXACT [] synonym: "bladder extrophies" EXACT [] synonym: "bladder extrophy" EXACT [] synonym: "exstrophy of bladder" EXACT [] synonym: "exstrophy of the bladder" EXACT [] synonym: "urinary bladder exstrophies" EXACT [] synonym: "urinary bladder exstrophy" EXACT [] xref: ICD10CM:Q64.10 xref: ICD9CM:753.5 xref: MESH:D001746 xref: MONDO:0010805 xref: ORDO:93930 is_a: DOID:0080173 ! bladder exstrophy-epispadias-cloacal exstrophy complex is_a: DOID:365 ! bladder disease [Term] id: DOID:0080175 name: cloacal exstrophy def: "A bladder exstrophy-epispadias-cloacal exstrophy complex that is characterized by a defect in the urethra, bladder and bowel. (DO)" [https://rarediseases.org/rare-diseases/bladder-exstrophy-epispadias-cloacal-exstrophy-complex/ "DO"] xref: ORDO:93929 is_a: DOID:0080173 ! bladder exstrophy-epispadias-cloacal exstrophy complex [Term] id: DOID:0080176 name: meningococcal meningitis def: "A bacterial meningitis that has_material_basis_in Neisseria meningitidis infection. (DO)" [http://www.who.int/mediacentre/factsheets/fs141/en/ "DO", https://en.wikipedia.org/wiki/Meningococcal_disease "DO", https://www.cdc.gov/meningococcal/about/symptoms.html "DO"] synonym: "meningococcal meningitis, serogroup A" NARROW [] synonym: "meningococcal meningitis, serogroup B" NARROW [] synonym: "meningococcal meningitis, serogroup C" NARROW [] synonym: "meningococcal meningitis, serogroup W 135" NARROW [] synonym: "meningococcal meningitis, serogroup W135" NARROW [] synonym: "meningococcal meningitis, serogroup Y" NARROW [] synonym: "meningococcic meningitis" EXACT [] xref: EFO:1001040 xref: ICD10CM:A39.0 xref: ICD9CM:036.0 xref: MESH:D008585 is_a: DOID:9008366 ! Meningococcal Infections is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:0080177 name: hepatic veno-occlusive disease def: "A hepatic vascular disease that is characterized by obstruction of some of the small veins of the liver. (DO)" [https://en.wikipedia.org/wiki/Hepatic_veno-occlusive_disease "DO"] synonym: "hepatic veno-occlusive diseases" EXACT [] synonym: "sinusoidal obstruction syndrome" EXACT [] xref: GARD:13004 xref: ICD10CM:K76.5 xref: MESH:D006504 is_a: DOID:272 ! hepatic vascular disease is_a: DOID:9004096 ! Veno-Occlusive Disease [Term] id: DOID:0080178 name: mucositis def: "A gastrointestinal system disease that is characterized by painful inflammation and ulceration of the mucous membranes lining the digestive tract. (DO)" [https://en.wikipedia.org/wiki/Mucositis "DO"] synonym: "chemotherapy-induced gut toxicity" NARROW [] synonym: "chemotherapy-induced mucositis" NARROW [] synonym: "CIGT" NARROW [] synonym: "CIM" NARROW [] synonym: "mucositides" EXACT [] xref: EFO:1001880 xref: EFO:1001898 xref: MESH:D052016 is_a: DOID:2326 ! gastroenteritis is_a: DOID:403 ! mouth disease [Term] id: DOID:0080179 name: haemophilus meningitis def: "A bacterial meningitis that has_material_basis_in Haemophilus influenzae infection. (DO)" [https://en.wikipedia.org/wiki/Haemophilus_meningitis "DO"] synonym: "Haemophilus influenzae meningitis" EXACT [] synonym: "Haemophilus influenzae Meningitis Type B" EXACT [] synonym: "Haemophilus Meningitides" EXACT [] synonym: "Haemophilus parainfluenzae Meningitides" EXACT [] synonym: "Haemophilus parainfluenzae Meningitis" EXACT [] synonym: "Hemophilus influenzae Meningitis Type B" EXACT [] synonym: "Hemophilus Meningitides" EXACT [] synonym: "Hemophilus Meningitis" EXACT [] synonym: "HiB Meninigitis" EXACT [] synonym: "Meningitis, Haemophilus influenzae Type F" EXACT [] synonym: "Meningitis, Hemophilus influenzae Type F" EXACT [] xref: EFO:1000955 xref: ICD10CM:G00.0 xref: ICD9CM:320.0 xref: MESH:D008583 is_a: DOID:9000109 ! Haemophilus Infections is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:0080180 name: Zika virus congenital syndrome def: "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus infection in utero. (DO)" [http://www.who.int/bulletin/volumes/94/6/16-176990/en/ "DO", https://wwwn.cdc.gov/nndss/conditions/zika/case-definition/2016/06/ "DO"] synonym: "ZIKV congenital infection" EXACT [] xref: MONDO:0000890 is_a: DOID:0060478 ! Zika fever is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080181 name: PHARC syndrome alt_id: MIM:612674 def: "A syndrome that is characterized by polyneuropathy, hearing loss, cerebellar ataxia, retinitis pigmentosa and early-onset cataract. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24697911 "DO"] synonym: "ABHD12-RELATED CONDITION" EXACT [] synonym: "PHARC" EXACT [] synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [] synonym: "polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract (PHARC)" EXACT [] synonym: "polyneyropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract" EXACT [] xref: MESH:C567203 xref: ORDO:171848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1389 ! polyneuropathy is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0080182 name: mixed fibrolamellar hepatocellular carcinoma def: "A fibrolamellar carcinoma that is characterized by the presence of both pure fibrolamellar hepatocellular carcinoma and and conventional hepatocellular carcinoma components. (DO)" [https://wjso.biomedcentral.com/articles/10.1186/s12957-016-0903-8 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4880064/ "DO"] is_a: DOID:5015 ! fibrolamellar carcinoma [Term] id: DOID:0080183 name: medullary colon carcinoma def: "A colon carcinoma that is characterized by a solid growth pattern. (DO)" [http://www.pathologyoutlines.com/topic/colontumormedullary.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/10414504 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20811712 "DO"] xref: RDO:9002020 is_a: DOID:1520 ! colon carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:0080184 name: mixed mucinous and nonmucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a mixed array of different patterns (acinar, papillary, bronchioloalveolar, solid with mucin). (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung "DO", https://www.ncbi.nlm.nih.gov/pubmed/20073606 "DO"] synonym: "indeterminate bronchioloalveolar carcinoma" EXACT [] synonym: "mixed mucinous and non-mucinous bronchioloalveolar adenocarcinoma" EXACT [] is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0080185 name: mucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by a tumour cells containing abundant mucin in their cytoplasm and composed of tall columnar cells growing along alveolar walls without stromal invasion. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16463270 "DO"] is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0080186 name: nonmucinous bronchioloalveolar adenocarcinoma def: "A bronchiolo-alveolar adenocarcinoma that is characterized by cells with cuboidal or columnar morphology with eosinophilic or clear cytoplasm and shows Clara cell or type 2 pneumocyte differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17616987 "DO"] is_a: DOID:4926 ! bronchiolo-alveolar adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0080187 name: chronic neutrophilic leukemia def: "A chronic leukemia characterized by neutrophilic leukocytosis with no detectable Philadelphia chromosome or BCR/ABL fusion gene. (DO)" [https://en.wikipedia.org/wiki/Chronic_neutrophilic_leukemia "DO"] synonym: "chronic neutrophilic leukemias" EXACT [] synonym: "EFO:1000179" EXACT [] xref: EFO:1000179 xref: GARD:10585 xref: ICDO:9963/3 xref: MESH:D015467 xref: NCI:C3179 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:1036 ! chronic leukemia [Term] id: DOID:0080188 name: chronic myelomonocytic leukemia def: "A chronic leukemia characterized by monocytosis, increased monocytes in the bone marrow, variable degrees of dysplasia, but an absence of immature granulocytes in the blood. (DO)" [https://en.wikipedia.org/wiki/Chronic_myelomonocytic_leukemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/30367269 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31093889 "DO"] synonym: "chronic myelomonocytic leukemias" EXACT [] synonym: "EFO:1001779" EXACT [] xref: EFO:1001779 xref: GARD:8225 xref: ICDO:9945/3 xref: MESH:D015477 xref: NCI:C3178 is_a: DOID:1036 ! chronic leukemia is_a: DOID:4972 ! myelodysplastic/myeloproliferative neoplasm is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:0080189 name: malignant hemangioma def: "A cell type cancer of vascular origin that is characterized by the proliferation of endothelial cells in and about the vascular lumen. (DO)" [http://www.rare-cancer.org/info/hemangioendothelioma.php "DO", https://en.wikipedia.org/wiki/Hemangioma "DO"] is_a: DOID:1115 ! sarcoma is_a: DOID:154 ! mixed cell type cancer is_a: DOID:175 ! vascular cancer [Term] id: DOID:0080190 name: malignant epithelioid hemangioendothelioma def: "A malignant hemangioma characterized by the presence of epithelioid endothelial cells. The neoplastic cells are arranged in cords and nests, which are embedded in a myxoid to hyalinized stroma. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C3800 "DO"] xref: NCI:C3800 is_a: DOID:0080189 ! malignant hemangioma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0080191 name: PTEN hamartoma tumor syndrome alt_id: MESH:C566636 alt_id: OMIA:001515 def: "A syndrome characterized as a spectrum of disorders (Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, PTEN-related Proteus syndrome, and Proteus-like syndrome) caused by germline mutations of the PTEN gene. (DO)" [https://rarediseases.org/rare-diseases/pten-hamartoma-tumor-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1488/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22628360 "DO"] synonym: "cerebellar granule cell hypertrophy and megalencephaly" NARROW [] synonym: "cerebelloparenchymal disorder VI" NARROW [] synonym: "Colorectal hamartomatous polyposis and ganglioneuromatosis" NARROW [] synonym: "CS" EXACT [] synonym: "HAMARTOMATOUS POLYPOSIS" RELATED [] synonym: "MHAM DYSPLASTIC GANGLIOCYTOMA OF THE CEREBELLUM" NARROW [] synonym: "Multiple Hamartoma Syndrome" EXACT [] synonym: "multiple hamartoma syndromes" EXACT [] synonym: "PROTEUS-like syndrome" NARROW [] synonym: "PTEN hamartoma tumor syndrome with granular cell tumor" EXACT [] xref: GARD:12800 xref: MESH:D006223 is_a: DOID:9001030 ! Multiple Primary Neoplasms is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9007253 ! Hamartoma [Term] id: DOID:0080192 name: relapsed/refractory diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma characterized by less than 50 percent decrease in lesion size with induction therapy or the appearance of new lesions or the appearance of new lesions after attainment of complete remission. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22160081 "DO"] is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:0080193 name: superior semicircular canal dehiscence def: "An inner ear disease characterized by dehiscence in the bone overlying the superior semicircular canal experience with symptoms of pressure or sound-induced vertigo, bone conduction hyperacusis, and pulsatile tinnitus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10651428/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28503164 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28790965 "DO"] synonym: "canal dehiscence syndrome" EXACT [] synonym: "minor's syndrome" EXACT [] synonym: "superior canal dehiscence" EXACT [] synonym: "superior canal syndrome" EXACT [] synonym: "superior semicircular canal dehiscence syndrome" EXACT [] synonym: "third mobile window syndrome" EXACT [] xref: ORDO:420402 xref: RDO:9004683 is_a: DOID:2952 ! inner ear disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:0080194 name: Carey-Fineman-Ziter syndrome def: "A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28681861 "DO", https://www.omim.org/entry/254940?search=254940&highlight=254940 "DO"] synonym: "Congenital nonprogressive myopathy with Moebius and Robin sequence" EXACT [] synonym: "Moebius sequence, Robin complex, and hypotonia" EXACT [] synonym: "Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences" EXACT [] synonym: "Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence" EXACT [] xref: MESH:C536102 xref: MIM:PS254940 is_a: DOID:0080000 ! muscular disease is_a: DOID:13501 ! Moebius syndrome is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome [Term] id: DOID:0080195 name: Marinesco-Sjogren syndrome def: "A syndrome characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness due to myopathy, and delayed psychomotor development. (DO)" [https://ghr.nlm.nih.gov/condition/marinesco-sjogren-syndrome#synonyms "DO", https://www.omim.org/entry/248800?search=248800&highlight=248800 "DO"] synonym: "Garland-Moorhouse syndrome" EXACT [] synonym: "hereditary oligophrenic cerebello-lental degeneration" EXACT [] synonym: "Marinesco-Garland syndrome" EXACT [] synonym: "Marinesco Sjogren Garland syndrome" EXACT [] synonym: "Marinesco-Sjogren-like syndrome (MSLS)" EXACT [] synonym: "Marinesco Sjogren syndrome hypergonadotrophic hypogonadism" EXACT [] synonym: "Marinesco Sjogren syndrome myopathy" EXACT [] synonym: "Marinesco Sjögren syndrome" EXACT [] synonym: "oligophrenic cerebellolenticular degeneration" EXACT [] xref: GARD:8341 xref: MESH:C535913 xref: ORDO:559 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0080000 ! muscular disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract [Term] id: DOID:0080196 name: mandibulofacial dysostosis, Guion-Almeida type alt_id: MIM:610536 def: "A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia. (DO)" [https://rarediseases.info.nih.gov/diseases/10056/mandibulofacial-dysostosis-with-microcephaly "DO", https://www.ncbi.nlm.nih.gov/books/NBK214367/ "DO"] synonym: "EFTUD2-RELATED CONDITION" EXACT [] synonym: "growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate" EXACT [] synonym: "mandibulofacial dysostosis-microcephaly syndrome" EXACT [] synonym: "mandibulofacial dysostosis with microcephaly" RELATED [] synonym: "MFDGA" EXACT [] synonym: "MFDM" EXACT [] synonym: "MFDM syndrome" EXACT [] xref: GARD:10056 xref: MESH:C537405 xref: ORDO:79113 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0080197 name: congenital muscular dystrophy with cataracts and intellectual disability def: "A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the INPP5K gene (607875) on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28190459 "DO"] synonym: "MDCCAID" EXACT [] xref: EFO:0009149 xref: MIM:617404 xref: MONDO:0024607 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11724 ! limb-girdle muscular dystrophy is_a: DOID:83 ! cataract [Term] id: DOID:0080198 name: infantile histiocytoid cardiomyopathy alt_id: MIM:500000 def: "An intrinsic cardiomyopathy characterized by the presence of characteristic pale granular foamy histiocyte-like cells within the myocardium and has_material_basis_in a mutation in the gene encoding mitochondrial cytochrome b. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10960495 "DO"] synonym: "foamy myocardial transformation of infancy" EXACT [] synonym: "focal lipid cardiomyopathy" EXACT [] synonym: "infantile xanthomatous cardiomyopathy" EXACT [] synonym: "oncocytic cardiomyopathy" EXACT [] xref: GARD:9511 xref: MESH:C535584 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:0080199 name: colorectal carcinoma def: "A colorectal cancer that arises from the colon or rectum and invades through the muscularis mucosa into the submucosa. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C4978 "DO"] synonym: "colorectal carcinomas" EXACT [] synonym: "EFO:1001951" EXACT [] xref: EFO:0000755 xref: EFO:1001951 xref: NCI:C2955 is_a: DOID:305 ! carcinoma is_a: DOID:9256 ! colorectal cancer [Term] id: DOID:0080200 name: bilateral renal aplasia def: "A renal agenesis that is characterized by the absence of both kidneys at birth. (DO)" [https://rarediseases.org/rare-diseases/renal-agenesis-bilateral/ "DO"] xref: EFO:1001951 xref: ORDO:1848 is_a: DOID:14766 ! renal agenesis [Term] id: DOID:0080201 name: Peters plus syndrome alt_id: MIM:261540 def: "A syndrome that is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay/intellectual disability. (DO)" [http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=709 "DO", https://en.wikipedia.org/wiki/Peters-plus_syndrome "DO", https://ghr.nlm.nih.gov/condition/peters-plus-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1464/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25544610 "DO"] synonym: "Krause-Kivlin syndrome" EXACT [] synonym: "Krause-Van Schooneveld-Kivlin syndrome" EXACT [] synonym: "Peters anomaly-short limb dwarfism syndrome" EXACT [] synonym: "Peters anomaly with short limb dwarfism" EXACT [] xref: GARD:8422 xref: MESH:C537617 xref: NCI:C123436 is_a: DOID:0060673 ! Peters anomaly is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0080202 name: adenoid cystic carcinoma def: "An adenocarcinoma that is characterized by bands or cylinders of hyalinized or mucinous stroma separating or surrounded by nests or cords of small epithelial cells. (DO)" [http://codes.iarc.fr/code/2592 "DO", https://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO", https://meshb.nlm.nih.gov/record/ui?ui=D003528 "DO"] synonym: "adenocystic carcinoma" EXACT [] synonym: "adenocystic carcinomas" EXACT [] synonym: "adenoid cystic carcinomas" EXACT [] synonym: "cylindroma" EXACT [] synonym: "cylindromas" EXACT [] synonym: "EFO:0000231" EXACT [] xref: EFO:0000231 xref: GARD:5743 xref: ICDO:8200/3 xref: MESH:D003528 is_a: DOID:305 ! carcinoma is_a: DOID:8858 ! tonsil cancer [Term] id: DOID:0080204 name: renal hypoplasia def: "A kidney disease that is characterized by abnormally small kidneys with normal morphology and reduced number of nephrons. (DO)" [https://www.nature.com/articles/pr2010138 "DO"] xref: EFO:0009471 xref: ORDO:93101 is_a: DOID:557 ! kidney disease is_a: DOID:9007600 ! Renal and Mullerian Duct Hypoplasia [Term] id: DOID:0080205 name: CAKUT def: "A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux. (DO)" [https://www.jci.org/articles/view/95300 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5468264/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25313840 "DO"] synonym: "congenital anomalies of kidney and urinary tract" EXACT [] synonym: "congenital anomalies of the kidney and urinary tract" EXACT [] synonym: "NON-SYNDROMIC RENAL OR URINARY TRACT MALFORMATION" EXACT [] synonym: "renal or urinary tract malformation" EXACT [] xref: MESH:C566906 xref: MIM:PS610805 xref: ORDO:93545 is_a: DOID:18 ! urinary system disease is_a: DOID:9620 ! vesicoureteral reflux [Term] id: DOID:0080206 name: CAKUT1 alt_id: MIM:610805 def: "A CAKUT that has_material_basis_in heterozygous mutation in the DSTYK gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23862974 "DO"] synonym: "congenital anomalies of kidney and urinary tract 1" EXACT [] synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 1, SUSCEPTIBILITY TO" RELATED [] synonym: "congenital anomalies of the kidney and urinary tract 1" EXACT [] synonym: "DSTYK-RELATED CONDITION" BROAD [] synonym: "nonsyndromic renal hypodysplasia 1" EXACT [] synonym: "RHDNS1" EXACT [] xref: MESH:C563661 is_a: DOID:0080205 ! CAKUT is_a: DOID:557 ! kidney disease [Term] id: DOID:0080207 name: CAKUT2 alt_id: MIM:143400 def: "A CAKUT that has_material_basis_in heterozygous mutation in the TBX18 gene on chromosome 6q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26235987 "DO"] synonym: "congenital anomalies of kidney and urinary tract 2" EXACT [] synonym: "Congenital anomalies of the kidney and urinary tract 2" EXACT [] synonym: "Hydronephrosis Due To Pujo" EXACT [] synonym: "MCRD" EXACT [] synonym: "Multicystic Renal Dysplasia, Bilateral" EXACT [] synonym: "Pelvi-ureteric junction obstruction" EXACT [] synonym: "Pelviureteric Junction Obstruction" EXACT [] synonym: "PUJO" EXACT [] synonym: "UPJO" EXACT [] synonym: "ureteropelvic junction obstruction" RELATED [] xref: MESH:C537373 is_a: DOID:0080205 ! CAKUT is_a: DOID:11111 ! hydronephrosis is_a: DOID:5199 ! ureteral obstruction is_a: DOID:630 ! genetic disease is_a: DOID:9005988 ! Multicystic Dysplastic Kidney [Term] id: DOID:0080208 name: metabolic dysfunction-associated steatotic liver disease alt_id: MIM:613282 alt_id: MIM:613387 def: "A steatotic liver disease characterized by at least one of five cardiometabolic risk factors (adjusted for age, sex and ethnicity), alcohol consumption below 140g/week (female) or 210g/week (male), and no other discernible cause. The five cardiometabolic risk factors are:\n(1) Body mass index ≥ 25 kg/m2 (adult), 23 kg/m2 (adult Asian), or 85th percentile (pediatric); waist circumference > 94 cm (adult male), 80 cm (adult female), or 95th percentile (pediatric); or ethnicity adjusted equivalents.\n(2) Fasting serum glucose ≥ 5.6 mmol/L, 2-hr post-load glucose levels ≥ 7.8 mmol/L, glycated hemoglobin (HbA1c) ≥ 5.7% (39 mmol/L), type 2 diabetes, treatment for type 2 diabetes, previously diagnosed or treated type 2 diabetes (pediatric only), or serum glucose ≥ 11.1 mmol/L (pediatric only).\n(3) Blood pressure ≥ lower of 130/85 mmHg or 95th percentile (age < 13 years), or 130/85 mmHg (age ≥ 13 years); or specific hypertensive drug treatment.\n(4) Plasma triglycerides ≥ 1.15 mmol/L (age < 10 years) or 1.70 mmol/L (age ≥ 10 years); or lipid lowering treatment.\n(5) Plasma high-density lipoprotein cholesterol ≤ 1.0 mmol/L (adult male, pediatric) or 1.3 mmol/L (adult female); or lipid lowering treatment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37364816/ "DO"] synonym: "alcoholic liver disease, susceptibility to, 1" RELATED [] synonym: "Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2" RELATED [] synonym: "MAFLD" EXACT [] synonym: "MASLD" EXACT [] synonym: "metabolic-associated fatty liver disease" EXACT [] synonym: "metabolic dysfunction-associated fatty liver disease" EXACT [] synonym: "metabolic dysfunction-related steatotic liver disease" EXACT [] synonym: "NAFLD" EXACT [] synonym: "NAFLD1" NARROW [] synonym: "NAFLD2" NARROW [] synonym: "Nonalcoholic Fatty Liver" EXACT [] synonym: "non-alcoholic fatty liver disease" EXACT [] synonym: "nonalcoholic fatty liver disease" EXACT [] synonym: "nonalcoholic fatty liver disease, susceptibility to" RELATED [] synonym: "nonalcoholic fatty liver disease, susceptibility to, 1" RELATED [] xref: EFO:0003095 xref: MESH:D065626 xref: NCI:C84444 is_a: DOID:9452 ! steatotic liver disease [Term] id: DOID:0080209 name: sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay def: "A sideroblastic anemia characterized by onset of severe sideroblastic anemia in the neonatal period or infancy, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TRNT1 gene on chromosome 3p26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23553769 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25193871 "DO"] synonym: "SIFD" EXACT [] xref: MIM:616084 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:8955 ! sideroblastic anemia is_a: DOID:9000972 ! Fever is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0080210 name: primary mediastinal B-cell lymphoma def: "A large B-cell lymphoma that is is characterized by a diffuse proliferation of medium to large B-cells associated with sclerosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28318892 "DO"] synonym: "large cell lymphoma of the mediastinum" EXACT [] synonym: "mediastinal diffuse large-cell lymphoma with sclerosis" EXACT [] synonym: "primary mediastinal clear cell lymphoma of B-cell type" EXACT [] xref: ICD10CM:C85.2 xref: MONDO:0020323 xref: NCI:C9280 xref: ORDO:98838 is_a: DOID:0050745 ! diffuse large B-cell lymphoma is_a: DOID:0081452 ! large B-cell lymphoma [Term] id: DOID:0080211 name: nodal marginal zone lymphoma def: "A marginal zone B-cell lymphoma which morphologically resembles lymph nodes involved by marginal zone lymphomas of extranodal or splenic types, but without evidence of extranodal or splenic disease. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C8863 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26989202 "DO"] xref: NCI:C8863 is_a: DOID:0050748 ! marginal zone lymphoma [Term] id: DOID:0080212 name: polycystic kidney disease 4 def: "A autosomal recessive polycystic kidney disease that has_material_basis_in mutation in the PKD4 gene. (DO)" [https://www.omim.org/entry/173900 "DO"] synonym: "abnormality of the intrahepatic bile duct" BROAD [] synonym: "ARPKD" EXACT [] synonym: "infantile polycystic kidney disease, type 1" EXACT [] synonym: "infantile polycystic kidney disease, type I" EXACT [] synonym: "PKD3" EXACT [] synonym: "PKD4" EXACT [] synonym: "PKHD1" EXACT [] synonym: "PKHD1-RELATED CONDITION" EXACT [] synonym: "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1" EXACT [] synonym: "Polycystic Kidney and Hepatic Disease 1 (Autosomal Recessive)" EXACT [] synonym: "POLYCYSTIC KIDNEY DISEASE 4 WITH OR WITHOUT HEPATIC DISEASE" EXACT [] synonym: "polycystic kidney disease 4 with or without polycystic liver disease" EXACT [] synonym: "polycystic kidney disease, autosomal recessive" EXACT [] xref: MIM:263200 is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease [Term] id: DOID:0080213 name: punctate palmoplantar keratoderma type II def: "A punctate palmoplantar keratoderma that is characterized by multiple, asymptomatic, 1 to 2 mm-long, firm, hyperkeratotic projections on the palms, soles and digits. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8651714/ "DO"] synonym: "palmoplantar keratoderma, punctate type 2" EXACT [] synonym: "PPKP2" EXACT [] xref: GARD:4439 xref: MIM:175860 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060361 ! punctate palmoplantar keratoderma [Term] id: DOID:0080214 name: punctate palmoplantar keratoderma type I alt_id: MIM:148600 alt_id: MIM:614936 def: "A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23000146/ "DO"] synonym: "Buschke Fischer Brauer syndrome" EXACT [] synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" EXACT [] synonym: "keratosis palmoplantaris papulosa" EXACT [] synonym: "KPPP1" EXACT [] synonym: "PPKP1" EXACT [] synonym: "PPKP1A" EXACT [] synonym: "punctate palmoplantar keratoderma type 1" EXACT [] synonym: "punctate palmoplantar keratoderma type 1A" EXACT [] synonym: "punctate palmoplantar keratoderma type 1B" EXACT [] synonym: "punctate palmoplantar keratoderma type IA" EXACT [] xref: MESH:C536161 is_a: DOID:0060361 ! punctate palmoplantar keratoderma [Term] id: DOID:0080215 name: developmental and epileptic encephalopathy 8 alt_id: MIM:300607 def: "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15215304 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21633362 "DO"] synonym: "DEE8" EXACT [] synonym: "early infantile epileptic encephalopathy 8" EXACT [] synonym: "EIEE8" EXACT [] synonym: "hyperekplexia and epilepsy" EXACT [] xref: MESH:C564474 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0060695 ! hyperekplexia is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080216 name: duodenal atresia alt_id: MIM:223400 def: "An intestinal atresia that is characterized by congenital absence or complete closure of a portion of the lumen of the duodenum. (DO)" [https://en.wikipedia.org/wiki/Duodenal_atresia "DO"] synonym: "duodenal stenosis" EXACT [] synonym: "familial duodenal atresia" EXACT [] xref: GARD:54 xref: MESH:C535720 is_a: DOID:10486 ! intestinal atresia is_a: DOID:3558 ! duodenal obstruction [Term] id: DOID:0080217 name: lysosomal acid lipase deficiency def: "A lipid storage disease characterized by dyslipidemia and accumulation of cholesteryl esters and triglycerides within various organs that has_material_basis_in homozygous or compound heterozygous mutation in the LIPA gene on chromosome 10q23.31. (DO)" [https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK395569/ "DO"] synonym: "acid cholesteryl ester hydrolase deficiency, type 2" EXACT [] synonym: "acid lipase disease" EXACT [] synonym: "CESD" EXACT [] synonym: "cholesterol ester hydrolase deficiency" EXACT [] synonym: "LAL-D" EXACT [] synonym: "LAL deficiency" EXACT [] synonym: "LIPA deficiency" EXACT [] xref: EFO:0700022 xref: GARD:12097 xref: ICD10CM:E75.5 xref: MIM:PS278000 xref: ORDO:275761 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0080218 name: primary spontaneous pneumothorax def: "A pneumothorax that is characterized by an abnormal accumulation of air in the space between the lungs and the chest cavity that can result in the partial or complete collapse of a lung. (DO)" [https://ghr.nlm.nih.gov/condition/primary-spontaneous-pneumothorax "DO"] xref: GARD:4997 xref: MIM:173600 is_a: DOID:1673 ! pneumothorax [Term] id: DOID:0080219 name: dystransthyretinemic hyperthyroxinemia alt_id: MIM:145680 def: "A hyperthyroxinemia that is characterized by an increased affinity for thyroxine (T4) by transthyretin in clinically euthyroid individuals and that has_material_basis_in heterozygous mutation in the TTR gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1979335/ "DO"] synonym: "DTTRH" EXACT [] synonym: "dysprealbuminemic hyperthyroxinemia" EXACT [] synonym: "dystransthyretinemic euthyroidal hyperthyroxinemia" EXACT [] synonym: "euthryroidal hyperthyroxinemia 2" EXACT [] xref: MESH:C567719 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2855 ! hyperthyroxinemia [Term] id: DOID:0080222 name: pseudohypoparathyroidism type IB def: "A pseudohypoparathyroidism characterized by isolated renal parathyroid hormone (PTH) resistance resulting in hypocalcemia, hyperphosphatemia and elevated PTH levels that has_material_basis_in mutations that alter the methylation pattern of GNAS on 20q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6301273 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6325502 "DO"] synonym: "PHP1B" EXACT [] synonym: "PHP IB" EXACT [] synonym: "pseudohypoparathyroidism type 1B" EXACT [] xref: GARD:10680 xref: MIM:603233 xref: ORDO:94089 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:0080223 name: epidermolytic palmoplantar keratoderma def: "A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7544663 "DO"] synonym: "epidermolytic palmoplantar keratodermas" EXACT [] synonym: "epidermolytic Thost-Unna disease" EXACT [] synonym: "EPPK" EXACT [] synonym: "EPPK (epidermolytic palmoplantar heratoderma)" EXACT [] synonym: "Greither Keratosis" EXACT [] synonym: "Keratosis of Greither" EXACT [] synonym: "keratosis palmaris et plantaris familiaris" EXACT [] synonym: "localized epidermolytic hyperkeratoses" EXACT [] synonym: "localized epidermolytic hyperkeratosis" EXACT [] synonym: "PPKE" EXACT [] synonym: "tylosis" EXACT [] xref: GARD:2826 xref: MESH:D053546 xref: MIM:PS144200 xref: MONDO:0968949 xref: NCI:C84693 xref: ORDO:2199 is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma [Term] id: DOID:0080224 name: autosomal dominant dystrophic epidermolysis bullosa alt_id: MIM:131750 def: "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering at the level of the lamina densa secondary to minor trauma, limited to the nails, hands, feet, knees, and elbows, and has_material_basis_in autosomal dominant inheritance of mutation in the COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)" [https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes "DO"] synonym: "albopapuloid dominant dystrophic EB" EXACT [] synonym: "ALBOPAPULOID DOMINANT DYSTROPHIC EPIDERMOLYSIS BULLOSA" NARROW [] synonym: "Cockayne Touraine disease" EXACT [] synonym: "DDEB" EXACT [] synonym: "EBDCT" EXACT [] synonym: "EBDD EPIDERMOLYSIS BULLOSA DYSTROPHICA WITH SUBCORNEAL CLEAVAGE" NARROW [] synonym: "EBDSC" NARROW [] synonym: "epidermolysis bullosa, Cockayne Touraine type" EXACT [] synonym: "epidermolysis bullosa dystrophica, AD" EXACT [] synonym: "epidermolysis bullosa dystrophica, autosomal dominant" EXACT [] synonym: "epidermolysis bullosa dystrophica, Cockayne Touraine type" EXACT [] synonym: "epidermolysis bullosa dystrophica, dominant" EXACT [] synonym: "epidermolysis bullosa dystrophica, Pasini type" EXACT [] xref: GARD:2139 xref: MESH:C535956 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0080225 name: amyotrophic lateral sclerosis type 23 def: "An amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28469040/ "DO"] synonym: "ALS23" EXACT [] synonym: "amyotrophic lateral sclerosis 23" EXACT [] synonym: "ANXA11-RELATED CONDITION" BROAD [] xref: MIM:617839 xref: NCI:C178411 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0080226 name: autosomal dominant intellectual developmental disorder 56 def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26822784 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"] synonym: "autosomal dominant mental retardation 56" EXACT [] synonym: "CLTC-RELATED CONDITION" EXACT [] synonym: "MRD56" EXACT [] xref: MIM:617854 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080227 name: autosomal dominant intellectual developmental disorder 55 def: "An autosomal dominant intellectual developmental disorder that is characterized by onset of myoclonic seizures in the first years of life, global developmental delay, intellectual disability, speech delay and ataxic gait that has_material_basis_in heterozygous mutation in the NUS1 gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"] synonym: "autosomal dominant intellectual developmental disorder 55 with seizures" EXACT [] synonym: "autosomal dominant mental retardation 55" EXACT [] synonym: "autosomal dominant mental retardation 55 with seizures" EXACT [] synonym: "MRD55" EXACT [] xref: MIM:617831 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080228 name: autosomal dominant intellectual developmental disorder 53 alt_id: MIM:617798 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2A gene on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29100089/ "DO"] synonym: "autosomal dominant mental retardation 53" EXACT [] synonym: "MRD53" EXACT [] xref: EFO:0009165 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080230 name: autosomal dominant intellectual developmental disorder 54 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CAMK2B gene on chromosome 7p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29100089/ "DO"] synonym: "autosomal dominant mental retardation 54" EXACT [] synonym: "CAMK2B-RELATED CONDITION" EXACT [] synonym: "MRD54" EXACT [] xref: EFO:0009164 xref: MIM:617799 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080231 name: autosomal dominant intellectual developmental disorder 52 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the ASH1L gene on chromosome 1q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23033978/ "DO"] synonym: "ASH1L-RELATED CONDITION" EXACT [] synonym: "ASH1L-RELATED DISORDER" EXACT [] synonym: "autosomal dominant mental retardation 52" EXACT [] synonym: "MRD52" EXACT [] xref: EFO:0009152 xref: MIM:617796 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080232 name: autosomal dominant intellectual developmental disorder 51 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KMT5B gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28191889/ "DO"] synonym: "autosomal dominant mental retardation 51" EXACT [] synonym: "MRD51" EXACT [] xref: MIM:617788 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080233 name: autosomal dominant intellectual developmental disorder 50 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the NAA15 gene on chromosome 4q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28191889/ "DO"] synonym: "autosomal dominant intellectual developmental disorder-50 with behavioral abnormalities" EXACT [] synonym: "autosomal dominant mental retardation 50" EXACT [] synonym: "MRD50" EXACT [] synonym: "NAA15-related syndrome" BROAD [] xref: MIM:617787 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080234 name: Clark-Baraitser syndrome alt_id: MIM:617752 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the TRIP12 gene on chromosome 2q36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27848077/ "DO"] synonym: "autosomal dominant intellectual disability 49" EXACT [] synonym: "autosomal dominant mental retardation 49" EXACT [] synonym: "Baraitser Syndrome" EXACT [] synonym: "CLABARS" EXACT [] synonym: "MRD49" EXACT [] synonym: "TRIP12-RELATED CONDITION" EXACT [] xref: GARD:13584 xref: MESH:C536208 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9970 ! obesity [Term] id: DOID:0080235 name: autosomal dominant intellectual developmental disorder 48 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the RAC1 gene on chromosome 7p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28886345/ "DO"] synonym: "autosomal dominant mental retardation 48" EXACT [] synonym: "MRD48" EXACT [] xref: EFO:0009156 xref: MIM:617751 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080236 name: autosomal dominant intellectual developmental disorder 45 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the CIC gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28288114/ "DO"] synonym: "autosomal dominant mental retardation 45" EXACT [] synonym: "CIC-RELATED CONDITION" EXACT [] synonym: "MRD45" EXACT [] xref: MIM:617600 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080237 name: autosomal dominant intellectual developmental disorder 46 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the KCNQ5 gene on chromosome 6q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28669405/ "DO"] synonym: "autosomal dominant mental retardation 46" EXACT [] synonym: "KCNQ5-RELATED CONDITION" EXACT [] synonym: "MRD46" EXACT [] xref: MIM:617601 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080238 name: autosomal dominant intellectual developmental disorder 47 def: "An autosomal dominant intellectual developmental disorder that has_material_basis_in heterozygous mutation in the STAG1 gene on chromosome 3q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28119487/ "DO"] synonym: "autosomal dominant mental retardation 47" EXACT [] synonym: "MRD47" EXACT [] synonym: "STAG1-related disorder" BROAD [] synonym: "STAG1-related disorders" BROAD [] xref: EFO:0009078 xref: MIM:617635 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder [Term] id: DOID:0080239 name: autosomal recessive intellectual developmental disorder 61 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27612186 "DO", https://www.omim.org/entry/617773 "DO"] synonym: "Alwadei syndrome" EXACT [] synonym: "autosomal recessive mental retardation 61" EXACT [] synonym: "MRT61" EXACT [] xref: MIM:617773 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:0080240 name: non-syndromic X-linked intellectual disability 106 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28302723/ "DO", https://pubmed.ncbi.nlm.nih.gov/28584052/ "DO"] synonym: "MRX106" EXACT [] synonym: "XLID106" EXACT [] synonym: "X-linked intellectual developmental disorder 106" EXACT [] synonym: "X-linked mental retardation 106" EXACT [] xref: MIM:300997 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability [Term] id: DOID:0080241 name: syndromic X-linked intellectual disability 35 def: "A syndromic X-linked intellectual disability that has_material_basis_in mutation in the RPL10 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26290468/ "DO"] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 35" EXACT [] synonym: "INTELLECTUAL DISABILITY, X-LINKED, SYNDROMIC, 35" EXACT [] synonym: "MRXS35" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 35" EXACT [] synonym: "syndromic X-linked mental retardation 35" EXACT [] xref: MIM:300998 xref: MONDO:0030908 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0080242 name: syndromic X-linked mental retardation Hough type def: "A syndromic X-linked intellectual disability that is characterized by delayed development, intellectual disability, speech and language delay, and early-onset seizures and that has_material_basis_in hemizygous or heterozygous mutation in the CNKSR2 gene on chromosome Xp22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28098945/ "DO"] synonym: "Houge-type X-linked syndromic mental retardation" EXACT [] synonym: "intellectual developmental disorder, X-linked, syndromic, Houge type" EXACT [] synonym: "MRXSHG" EXACT [] xref: MIM:301008 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0080243 name: amelogenesis imperfecta type 3B def: "An amelogenesis imperfecta type 3 that is characterized by enamel that is reduced in mineral density and is thin, chipped, and absent in places and that has_material_basis_in heterozygous mutation in the amelotin gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27412008/ "DO"] synonym: "AI3B" EXACT [] xref: MIM:617607 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111721 ! amelogenesis imperfecta type 3 [Term] id: DOID:0080244 name: Galloway-Mowat syndrome 2 def: "A Galloway-Mowat syndrome that has_material_basis_in hemizygous mutation in the LAGE3 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28805828/ "DO"] synonym: "Galloway-Mowat syndrome 2, X-linked" EXACT [] synonym: "GAMOS2" EXACT [] xref: MIM:301006 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080245 name: Galloway-Mowat syndrome 3 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the OSGEP gene on chromosome 14q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28805828/ "DO"] synonym: "GAMOS3" EXACT [] xref: MIM:617729 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080246 name: Galloway-Mowat syndrome 4 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TP53RK gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28805828/ "DO"] synonym: "GAMOS4" EXACT [] xref: MIM:617730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080247 name: Galloway-Mowat syndrome 5 def: "A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the TPRKB gene on chromosome 2p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28805828/ "DO"] synonym: "GAMOS5" EXACT [] xref: MIM:617731 is_a: DOID:0080694 ! Galloway-Mowat syndrome [Term] id: DOID:0080248 name: erythrokeratodermia variabilis et progressiva 2 def: "An erythrokeratodermia variabilis that is characterized by persistent plaque-like or generalized hyperkeratosis and transient red patches of variable size, shape, and location and that has_material_basis_in heterozygous mutation in the gene encoding connexin-30.3 (GJB4) on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12648223/ "DO"] synonym: "EKVP2" EXACT [] xref: MIM:617524 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080249 name: erythrokeratodermia variabilis et progressiva 3 def: "An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25398053/ "DO"] synonym: "MIM:617525" EXACT [] is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080250 name: erythrokeratodermia variabilis et progressiva 4 def: "An erythrokeratodermia variabilis that is characterized by severe lesions of thick scaly skin on the face and genitals, as well as thickened, red, and scaly skin on the hands and feet and that has_material_basis_in compound heterozygous mutation in the KDSR gene on chromosome 18q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28575652/ "DO"] synonym: "EKVP4" EXACT [] xref: MIM:617526 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080251 name: erythrokeratodermia variabilis et progressiva 5 def: "An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27965375/ "DO"] synonym: "EKVP5" EXACT [] xref: MIM:617756 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2018-01-23T10:17:39Z [Term] id: DOID:0080252 name: spastic ataxia 8 def: "A spastic ataxia that is characterized by onset of primarily motor dysfunction within the first year of life and that has_material_basis_in homozygous mutation in the NKX6-2 gene on chromosome 8q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28575651/ "DO"] synonym: "spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy" EXACT [] synonym: "SPAX8" EXACT [] xref: MIM:617560 xref: MONDO:0033043 xref: ORDO:527497 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050952 ! spastic ataxia is_a: DOID:10579 ! leukodystrophy [Term] id: DOID:0080253 name: Meckel syndrome 13 def: "A Meckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13 and that is characterized by occipital encephalocele, polydactyly, polycystic kidneys, micrognathia, contractures, and perinatal lethality. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26123494/ "DO"] synonym: "Meckel syndrome, type 13" EXACT [] synonym: "MKS13" EXACT [] xref: MIM:617562 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:1148 ! polydactyly is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:0080254 name: orofaciodigital syndrome XVI def: "An orofaciodigital syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26518474/ "DO"] synonym: "OFD16" EXACT [] synonym: "OFDS XVI" EXACT [] synonym: "oral-facial-digital syndrome, type XVI" EXACT [] xref: MIM:617563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:0080255 name: Meier-Gorlin syndrome 8 def: "A Meier-Gorlin syndrome that has_material_basis_in compound heterozygous mutation in the MCM5 gene on chromosome 22q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28198391/ "DO"] synonym: "MGORS8" EXACT [] xref: MIM:617564 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080256 name: Perrault syndrome 6 def: "A Perrault syndrome that is characterized by sensorineural deafness in both males and females, with females also presenting with ovarian dysgenesis resulting in amenorrhea and infertility and that has_material_basis_in homozygous mutation in the ERAL1 gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28449065/ "DO"] synonym: "PRLTS6" EXACT [] xref: MIM:617565 is_a: DOID:0050857 ! Perrault syndrome [Term] id: DOID:0080257 name: autosomal recessive congenital ichthyosis 13 def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous mutation in the SDR9C7 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28369735/ "DO"] synonym: "ARCI13" EXACT [] synonym: "SDR9C7-RELATED CONDITION" EXACT [] xref: MIM:617574 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0080258 name: autosomal recessive congenital ichthyosis 14 def: "An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the SULT2B1 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28575648/ "DO"] synonym: "ARCI14" EXACT [] xref: MIM:617571 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:0080259 name: autosomal recessive spinocerebellar ataxia 25 alt_id: DOID:9008646 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous mutation in the ATG5 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26812546 "DO"] synonym: "SCAR25" EXACT [] xref: MIM:617584 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080260 name: autosomal recessive spinocerebellar ataxia 26 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in compound heterozygous mutation in the XRCC1 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28002403 "DO"] synonym: "SCAR26" EXACT [] xref: MIM:617633 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0080261 name: autosomal recessive nonsyndromic deafness 106 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the EPS8L2 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26282398/ "DO"] synonym: "autosomal recessive deafness 106" EXACT [] synonym: "DFNB106" EXACT [] xref: MIM:617637 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0080262 name: autosomal recessive nonsyndromic deafness 107 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in compound heterozygous mutation in the WBP2 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26881968/ "DO"] synonym: "autosomal recessive deafness 107" EXACT [] synonym: "DFNB107" EXACT [] xref: MIM:617639 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0080263 name: autosomal recessive nonsyndromic deafness 108 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous mutation in the ROR1 gene on chromosome 1p31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27162350/ "DO"] synonym: "autosomal recessive deafness 108" EXACT [] synonym: "DFNB108" EXACT [] xref: MIM:617654 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0080264 name: exudative vitreoretinopathy 7 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28575650 "DO"] synonym: "EVR7" EXACT [] xref: MIM:617572 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080265 name: nephrotic syndrome type 14 def: "A familial nephrotic syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the sphingosine-1-phosphate lyase 1 (SGPL1) gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28165343 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30683667 "DO", https://www.omim.org/entry/617575 "DO"] synonym: "nephrotic syndrome 14" EXACT [] synonym: "NPHS14" EXACT [] synonym: "sphingosine phosphate lyase insufficiency syndrome" EXACT [] synonym: "SPLIS" EXACT [] xref: MIM:617575 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080266 name: primary ciliary dyskinesia 37 def: "A primary ciliary dyskinesia that has_material_basis_in homozygous mutation in the DNAH1 gene on chromosome 3p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25927852/ "DO"] xref: MIM:617577 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0080267 name: autosomal dominant nonsyndromic deafness 71 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the DMXL2 gene on chromosome 15q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27657680/ "DO"] synonym: "autosomal dominant deafness 71" EXACT [] synonym: "DFNA71" EXACT [] xref: MIM:617605 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080268 name: autosomal dominant nonsyndromic deafness 72 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SLC44A4 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28013291/ "DO"] synonym: "autosomal dominant deafness 72" EXACT [] synonym: "DFNA72" EXACT [] xref: MIM:617606 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080269 name: autosomal dominant nonsyndromic deafness 73 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PTPRQ gene on chromosome 12q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29309402/ "DO"] synonym: "autosomal dominant deafness 73" EXACT [] synonym: "DFNA73" EXACT [] xref: MIM:617663 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080270 name: autosomal dominant nonsyndromic deafness 34 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28847925/ "DO"] synonym: "autosomal dominant deafness 34 with or without inflammation" EXACT [] synonym: "DFNA34" EXACT [] xref: MIM:617772 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0080271 name: nephrotic syndrome type 15 def: "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MAGI2 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27932480 "DO"] synonym: "nephrotic syndrome 15" EXACT [] synonym: "NPHS15" EXACT [] xref: MIM:617609 xref: MONDO:0033262 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080272 name: nephrotic syndrome type 16 def: "A familial nephrotic syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KANK2 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25961457 "DO"] synonym: "nephrotic syndrome 16" EXACT [] synonym: "NPHS16" EXACT [] xref: MIM:617783 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080273 name: polycystic kidney disease 5 def: "A autosomal recessive polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of homozygous mutation in the DZIP1L gene on chromosome 3q22. (DO)" [https://www.omim.org/entry/617610 "DO"] synonym: "PKD5" EXACT [] xref: MIM:617610 is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease [Term] id: DOID:0080274 name: multiple mitochondrial dysfunctions syndrome 5 def: "A multiple mitochondrial dysfunctions syndrome that is characterized by progressive neurologic deterioration beginning in early infancy, with affected individuals having no psychomotor development and early-onset seizures with neurologic decline and spasticity, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the iron-sulfur cluster assembly 1 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28356563 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29623423 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31016283 "DO"] synonym: "MMDS5" EXACT [] xref: MIM:617613 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome [Term] id: DOID:0080275 name: Joubert syndrome 30 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC9 gene on chromosome 2q37. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28625504/ "DO"] synonym: "ARMC9-related Joubert syndrome" EXACT [] synonym: "JBTS30" EXACT [] xref: MIM:617622 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080276 name: Joubert syndrome 29 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM107 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26595381/ "DO"] is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080277 name: Joubert syndrome 31 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27208211/ "DO"] synonym: "JBTS31" EXACT [] xref: MIM:617761 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080278 name: Joubert syndrome 32 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the SUFU gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28965847/ "DO"] synonym: "JBTS32" EXACT [] xref: MIM:617757 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080279 name: Joubert syndrome 33 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIBF1 gene on chromosome 13q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26167768/ "DO"] synonym: "JBTS33" EXACT [] xref: MIM:617767 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0080280 name: gingival fibromatosis 5 def: "A gingival fibromatosis that is characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues and that has_material_basis_in heterozygous mutation in the REST gene on chromosome 4q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28686854/ "DO"] synonym: "GGF5" EXACT [] synonym: "GINGF5" EXACT [] synonym: "hereditary gingival fibromatosis 5" EXACT [] synonym: "HGF5" EXACT [] xref: MIM:617626 xref: MONDO:0033493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060466 ! gingival fibromatosis [Term] id: DOID:0080281 name: schizophrenia 19 def: "A schizophrenia that has_material_basis_in heterozygous mutation in the RBM12 gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28628109/ "DO"] synonym: "schizophrenia 19, susceptibility to" RELATED [] synonym: "schizophrenia 19 with or without an affective disorder" EXACT [] synonym: "SCZD19" EXACT [] xref: MIM:617629 is_a: DOID:5419 ! schizophrenia [Term] id: DOID:0080282 name: developmental and epileptic encephalopathy 56 def: "A developmental and epileptic encephalopathy characterized by early-onset seizures in most patients, intellectual disability, and variable behavioral abnormalities that has_material_basis_in heterozygous mutation in the YWHAG gene on chromosome 7q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28777935 "DO"] synonym: "DEE56" EXACT [] synonym: "early infantile epileptic encephalopathy 56" EXACT [] synonym: "EIEE56" EXACT [] xref: MIM:617665 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080283 name: developmental and epileptic encephalopathy 55 def: "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of refractory seizures, profoundly impaired intellectual development, absent speech, spastic quadriplegia, and dyskinetic movements that has_material_basis_in homozygous or compound heterozygous mutation in the PIGP gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32042915/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28334793 "DO"] synonym: "DEE55" EXACT [] synonym: "early infantile epileptic encephalopathy 55" EXACT [] synonym: "EIEE55" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 14" EXACT [] synonym: "GPIBD14" EXACT [] xref: MIM:617599 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency [Term] id: DOID:0080284 name: developmental and epileptic encephalopathy 57 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of refractory multifocal seizures, global developmental delay with hypotonia, variably impaired intellectual development, and poor or absent language that has_material_basis_in heterozygous mutation in the KCNT2 gene on chromosome 1q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29740868/ "DO", https://pubmed.ncbi.nlm.nih.gov/32038177/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29069600 "DO"] synonym: "DEE57" EXACT [] synonym: "early infantile epileptic encephalopathy 57" EXACT [] synonym: "EIEE57" EXACT [] xref: MIM:617771 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080285 name: developmental and epileptic encephalopathy 58 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"] synonym: "DEE58" EXACT [] synonym: "early infantile epileptic encephalopathy 58" EXACT [] synonym: "EIEE58" EXACT [] synonym: "NTRK2-RELATED CONDITION" BROAD [] xref: MIM:617830 xref: MONDO:0033367 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080286 name: spinocerebellar ataxia 44 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the GRM1 gene on chromosome 6q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28886343/ "DO"] synonym: "GRM1-RELATED CONDITION" BROAD [] synonym: "SCA44" EXACT [] xref: MIM:617691 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0080287 name: spinocerebellar ataxia 45 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the FAT2 gene on chromosome 5q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29053796/ "DO"] synonym: "FAT2-RELATED CONDITION" EXACT [] synonym: "SCA45" EXACT [] synonym: "spinocerebellar ataxia type 45" EXACT [] xref: MIM:617769 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0080288 name: spinocerebellar ataxia 46 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the PLD3 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29053796/ "DO"] synonym: "autosomal dominant spinocerebellar ataxia 46 with sensory axonal neuropathy" EXACT [] synonym: "SCA46" EXACT [] xref: MIM:617770 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0080289 name: orofaciodigital syndrome XVII def: "An orofaciodigital syndrome that has_material_basis_in homozygous mutation in the INTU gene on chromosome 4q28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23459408/ "DO"] synonym: "OFD17" EXACT [] synonym: "OFDS XVII" EXACT [] synonym: "oral-facial-digital syndrome, type XVII" EXACT [] xref: MIM:617926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4501 ! orofaciodigital syndrome created_by: rgd creation_date: 2017-07-12T17:20:34Z [Term] id: DOID:0080290 name: familial erythrocytosis 5 def: "A primary polycythemia characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the EPO gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29514032 "DO"] synonym: "ECYT5" EXACT [] xref: MIM:617907 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0080291 name: developmental and epileptic encephalopathy 59 def: "A developmental and epileptic encephalopathy characterized by severe global developmental delay and onset of seizures in the first months of life that has_material_basis_in heterozygous mutation in the GABBR2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25262651 "DO"] synonym: "DEE59" EXACT [] synonym: "early infantile epileptic encephalopathy 59" EXACT [] synonym: "EIEE59" EXACT [] xref: MIM:617904 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080292 name: retinitis pigmentosa 81 def: "A retinitis pigmentosa that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28973684/ "DO"] synonym: "RP81" EXACT [] xref: MIM:617871 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0080293 name: short-rib thoracic dysplasia 18 with polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28400947/ "DO"] synonym: "SRTD18" EXACT [] xref: MIM:617866 xref: MONDO:0036483 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080294 name: Charcot-Marie-Tooth disease dominant intermediate G def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the NEFL gene on chromosome 8p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28364294/ "DO"] xref: EFO:0010267 xref: MIM:617882 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080295 name: short-rib thoracic dysplasia 19 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the IFT81 gene on chromosome 12q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27666822/ "DO"] synonym: "short-rib thoracic dysplasia 19 without polydactyly" EXACT [] synonym: "SRTD19" EXACT [] xref: MIM:617895 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080296 name: hypomyelinating leukodystrophy 14 def: "A hypomyelinating leukodystrophy that is characterized by hypotonia, almost complete lack of motor or cognitive skills, and absent language development and that has_material_basis_in homozygous mutation in the UFM1 gene on chromosome 13q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28931644/ "DO"] synonym: "HLD14" EXACT [] xref: MIM:617899 xref: MONDO:0033486 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy [Term] id: DOID:0080297 name: Coffin-Siris syndrome 6 def: "A Coffin-Siris syndrome that is characterized by short stature, sparse hair, mild to severe intellectual disability, coarse facial features, and variable behavioral anomalies and that\nhas_material_basis_in heterozygous mutation in the ARID2 gene on chromosome 12q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28124119/ "DO"] synonym: "ARID2-RELATED BAFOPATHY" EXACT [] synonym: "CSS6" EXACT [] xref: MIM:617808 is_a: DOID:1925 ! Coffin-Siris syndrome [Term] id: DOID:0080298 name: complete generalized lipodystrophy def: "A lipodystrophy that is characterized by complete loss of adipose tissue. (DO)" [https://rarediseases.org/rare-diseases/acquired-lipodystrophy/ "DO"] is_a: DOID:811 ! lipodystrophy [Term] id: DOID:0080299 name: partial lipodystrophy alt_id: MIM:608709 def: "A lipodystrophy that is characterized by partial loss of adipose tissue. (DO)" [https://rarediseases.org/rare-diseases/acquired-lipodystrophy/ "DO"] synonym: "APLD" EXACT [] synonym: "APLD, SUSCEPTIBILITY TO" RELATED [] synonym: "Barraquer-Simons Syndrome" EXACT [] synonym: "Lipodystrophy, Cephalothoracic Type" EXACT [] synonym: "partial lipodystrophy, acquired" EXACT [] synonym: "progressive partial lipodystrophy" EXACT [] synonym: "susceptibility to partial acquired lipodystrophy" RELATED [] xref: EFO:0020027 xref: MESH:C562448 is_a: DOID:811 ! lipodystrophy [Term] id: DOID:0080300 name: acquired generalized lipodystrophy def: "A complete generalized lipodystrophy that is characterized by generalized disappearance of fat occurring during childhood and adolescence where normal body fat is present at birth. (DO)" [http://www.utsouthwestern.edu/media/files/2400/Generalized-Lawrence-Syndrome.pdf "DO", https://www.ncbi.nlm.nih.gov/pubmed/23287278 "DO"] synonym: "Lawrence syndrome" EXACT [] is_a: DOID:0080298 ! complete generalized lipodystrophy [Term] id: DOID:0080301 name: atypical hemolytic-uremic syndrome alt_id: MIM:235400 alt_id: MIM:612922 alt_id: MIM:612923 alt_id: MIM:612924 alt_id: MIM:612925 alt_id: MIM:612926 alt_id: OMIA:000636 def: "A complement deficiency that is characterized by mechanical hemolytic anemia, thrombocytopenia, and renal dysfunction. (DO)" [https://ghr.nlm.nih.gov/condition/atypical-hemolytic-uremic-syndrome#sourcesforpage "DO", https://rarediseases.info.nih.gov/diseases/8702/index#ref_2575 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29226095 "DO"] synonym: "AHUS1" RELATED [] synonym: "AHUS2" RELATED [] synonym: "AHUS3" RELATED [] synonym: "AHUS4" RELATED [] synonym: "AHUS5" RELATED [] synonym: "AHUS6" RELATED [] synonym: "AHUS, susceptibility to, 1" RELATED [] synonym: "AHUS, susceptibility to, 2" RELATED [] synonym: "AHUS, susceptibility to, 3" RELATED [] synonym: "AHUS, susceptibility to, 4" RELATED [] synonym: "AHUS, susceptibility to, 5" RELATED [] synonym: "AHUS, susceptibility to, 6" RELATED [] synonym: "atypical hemolytic-uremic syndromes" EXACT [] synonym: "atypical hemolytic uremic syndrome, susceptibility to" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 1" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 2" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 3" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 4" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 5" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 6" RELATED [] synonym: "atypical hemolytic uremic syndrome, susceptibility to, 7" RELATED [] synonym: "CD46-RELATED CONDITION" EXACT [] synonym: "FAMILIAL ATYPICAL HEMOLYTIC-UREMIC SYNDROME" EXACT [] synonym: "Nonenteropathic HUS" EXACT [] synonym: "Non Shiga Like Toxin Associated HUS" EXACT [] synonym: "Non Stx Hus" EXACT [] xref: GARD:8702 xref: MESH:D065766 xref: MIM:PS235400 xref: ORDO:2134 is_a: DOID:12554 ! hemolytic-uremic syndrome is_a: DOID:626 ! complement deficiency [Term] id: DOID:0080302 name: mixed sleep apnea def: "A sleep apnea that is characterized by a combination of central and obstructive sleep apnea. (DO)" [https://en.wikipedia.org/wiki/Sleep_apnea#Mixed_apnea "DO", https://www.ncbi.nlm.nih.gov/pubmed/26681187 "DO"] synonym: "complex sleep apnea" EXACT [] synonym: "mixed central and obstructive sleep apnea" EXACT [] synonym: "mixed sleep apneas" EXACT [] is_a: DOID:0050847 ! sleep apnea [Term] id: DOID:0080303 name: mucinous lung adenocarcinoma def: "A lung adenocarcinoma with tumor cells floating in pools of mucin that distend alveolar spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15628896 "DO"] is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080304 name: lung mucinous cystadenocarcinoma def: "A lung adenocarcinoma that is a very rare malignant mucus-producing neoplasm arising from the uncontrolled growth of transformed epithelial cells originating in lung tissue. (DO)" [https://en.wikipedia.org/wiki/Mucinous_cystadenocarcinoma_of_the_lung "DO", https://www.ncbi.nlm.nih.gov/pubmed/14602331 "DO"] is_a: DOID:3603 ! mucinous cystadenocarcinoma is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080305 name: signet ring lung adenocarcinoma def: "A lung adenocarcinoma containing a signet cell ring component characterized by abundant intracellular mucin accumulation and a displaced crescentic nucleus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16463270 "DO"] synonym: "EFO:1000338" EXACT [] xref: EFO:1000338 is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080306 name: solid adenocarcinoma with mucin production def: "A lung adenocarcinoma that lacks acini, tubules, and papillae, and contains many mucin-containing cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16463270 "DO"] is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:0080307 name: myofibrillar myopathy def: "A myopathy that is characterized by slowly progressive muscle weakness that can involve both proximal muscles and distal muscles. (DO)" [https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy "DO", https://rarediseases.info.nih.gov/diseases/10529/myofibrillar-myopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/23995273 "DO"] synonym: "myofibrillar myopathies" EXACT [] synonym: "myofibrillar myopathy, dominant" NARROW [] xref: GARD:10529 xref: MESH:C580316 xref: MIM:PS601419 xref: NCI:C83009 is_a: DOID:422 ! congenital structural myopathy is_a: DOID:423 ! myopathy [Term] id: DOID:0080308 name: myofibrillar myopathy 8 def: "A myofibrillar myopathy that is characterized by childhood onset of slowly progressive proximal muscle weakness and atrophy resulting in increased falls, gait problems, and difficulty running or climbing stairs, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PYROXD1 gene on chromosome 12p12. (DO)" [https://ghr.nlm.nih.gov/condition/myofibrillar-myopathy "DO"] synonym: "MFM8" EXACT [] xref: MIM:617258 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2018-06-19T00:00:00Z [Term] id: DOID:0080309 name: fatal infantile hypertonic myofibrillar myopathy def: "A myofibrillar myopathy that has_material_basis_in homozygous mutation in the CRYAB gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23995273 "DO"] synonym: "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [] synonym: "MFM, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related" EXACT [] xref: MIM:613869 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2018-06-19T00:00:00Z [Term] id: DOID:0080311 name: X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance alt_id: MIM:300486 def: "A syndromic X-linked intellectual disability characterized by neonatal hypotonia with motor delay but no obvious ataxia, marked strabismus, early-onset complex partial seizures, and moderate to severe mental retardation and has_material_basis_in mutation in the oligophrenin-1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16158428 "DO"] synonym: "MRX60" EXACT [] synonym: "OPHN1-RELATED CONDITION" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Billuart type" EXACT [] synonym: "X-linked mental retardation 60" EXACT [] xref: MESH:C537456 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080312 name: neurodevelopmental disorder with midbrain and hindbrain malformations def: "A syndromic intellectual disability characterized by mild microcephaly, midbrain-hindbrain malformations, decreased reflexes, impaired fine motor movements, and variable dysmorphic features that has_material_basis_in homozygous mutation in the ARHGEF2 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28453519 "DO"] synonym: "NEDMHM" EXACT [] xref: MIM:617523 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:9006534 ! Nervous System Malformations created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080313 name: cleft palate-lateral synechia syndrome alt_id: MIM:119550 def: "A physical disorder that is characterized by fusion of maxilla and mandible. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24163560 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2016 "DO"] synonym: "CPLS Syndrome" EXACT [] synonym: "syngnathia" EXACT [] xref: MESH:C563047 xref: ORDO:2016 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9001018 ! Mouth Abnormalities created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080314 name: cone-rod dystrophy 14 alt_id: MIM:602093 def: "A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28125083 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9425234 "DO"] synonym: "COD3" EXACT [] synonym: "cone dystrophy 3" EXACT [] synonym: "CORD14" EXACT [] xref: MESH:C566579 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080315 name: megalencephalic leukoencephalopathy with subcortical cysts def: "A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. (DO)" [https://ghr.nlm.nih.gov/condition/megalencephalic-leukoencephalopathy-with-subcortical-cysts "DO"] synonym: "infantile leukoencephalopathy and megalencephaly" EXACT [] synonym: "leukoencephalopathy with swelling and a discrepantly mild course" EXACT [] synonym: "leukoencephalopathy with swelling and cysts" EXACT [] synonym: "LVM" EXACT [] synonym: "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome" EXACT [] synonym: "megalencephaly-cystic leukodystrophy" EXACT [] synonym: "vacuolating leukoencephalopathy" EXACT [] synonym: "vacuolating megalencephalic leukoencephalopathy with subcortical cysts" EXACT [] synonym: "Van Der Knapp disease" EXACT [] synonym: "VL" EXACT [] xref: GARD:3445 xref: MESH:C536141 xref: MIM:PS604004 xref: ORDO:2478 is_a: DOID:10579 ! leukodystrophy is_a: DOID:9007583 ! Cysts is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080316 name: megalencephalic leukoencephalopathy with subcortical cysts 1 def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21419380 "DO"] synonym: "MLC1" EXACT [] synonym: "Van Der Knaap disease" EXACT [] xref: MIM:604004 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080317 name: megalencephalic leukoencephalopathy with subcortical cysts 2B def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20517947 "DO"] synonym: "HEPACAM-RELATED CONDITION" BROAD [] synonym: "MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH IMPAIRED INTELLECTUAL DEVELOPMENT" NARROW [] synonym: "MLC2B" EXACT [] synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with mental retardation" NARROW [] synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without impaired intellectual development" EXACT [] synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without intellectual disability" EXACT [] synonym: "remitting megalencephalic leukoencephalopathy with subcortical cysts 2B, with or without mental retardation" EXACT [] xref: MIM:613926 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080318 name: megalencephalic leukoencephalopathy with subcortical cysts 2A def: "A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has_material_basis_in homozygous or compound heterozygous mutation in the HEPACAM gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20517947 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21419380 "DO"] synonym: "HEPACAM-RELATED CONDITION" BROAD [] synonym: "MLC2A" EXACT [] xref: MIM:613925 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080319 name: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia def: "A T cell deficiency that is characterized by CD4 lymphopenia, severe chronic viral infections, and defective T-lymphocyte activation in males and has_material_basis_in X-linked inheritance of mutations in the gene encoding magnesium transporter-1 (MAGT1). (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-immunodeficiency-with-magnesium-defect-epstein-barr-virus-infection-and-neoplasia#genes "DO", https://meshb.nlm.nih.gov/record/ui?ui=C536288 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=317476 "DO"] synonym: "MAGT1-RELATED CONDITION" BROAD [] synonym: "XMEN" EXACT [] xref: MIM:300853 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:2938 ! Epstein-Barr virus infectious disease is_a: DOID:417 ! autoimmune disease is_a: DOID:614 ! lymphopenia is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2018-07-05T00:00:00Z [Term] id: DOID:0080320 name: peripheral nervous system benign neoplasm def: "A central nervous system benign neoplasm the is located_in the peripheral nervous system. (DO)" [https://www.mayoclinic.org/diseases-conditions/peripheral-nerve-tumors-benign/symptoms-causes/syc-20368680 "DO"] is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:0060115 ! nervous system benign neoplasm is_a: DOID:1192 ! peripheral nervous system neoplasm [Term] id: DOID:0080321 name: autonomic nervous system benign neoplasm def: "A peripheral nervous system benign neoplasm that is located_in the autonomic nervous system. (DO)" [https://en.wikipedia.org/wiki/Autonomic_nervous_system "DO"] is_a: DOID:0080320 ! peripheral nervous system benign neoplasm [Term] id: DOID:0080322 name: polycystic kidney disease alt_id: OMIA:000807 def: "A cystic kidney disease that is characterized by the growth of fluid-filled cysts in the kidneys that reduces kidney function and may lead to kidney failure. (DO)" [https://www.niddk.nih.gov/health-information/kidney-disease/polycystic-kidney-disease/what-is-pkd "DO"] synonym: "Microcystic Renal Disease" NARROW [] synonym: "polycystic kidney" EXACT [] synonym: "polycystic kidney disease, adult type" NARROW [] synonym: "polycystic kidney diseases" EXACT [] synonym: "polycystic kidneys" EXACT [] synonym: "polycystic renal disease" EXACT [] synonym: "polycystic renal diseases" EXACT [] xref: EFO:0008620 xref: EFO:0008621 xref: MESH:D007690 xref: MIM:PS173900 xref: NCI:C75464 is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080323 name: pancreatic squamous cell carcinoma def: "A squamous cell carcinoma located in the pancreas. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5437439/ "DO"] is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:1793 ! pancreatic cancer [Term] id: DOID:0080324 name: tuberous sclerosis 1 alt_id: MIM:191100 def: "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in heterozygous mutation in the TSC1 gene on chromosome 9q34. (DO)" [https://www.omim.org/entry/191100 "DO"] synonym: "TSC1" EXACT [] xref: MESH:C565346 xref: NCI:C75122 is_a: DOID:13515 ! tuberous sclerosis [Term] id: DOID:0080325 name: tuberous sclerosis 2 alt_id: MIM:613254 def: "A tuberous sclerosis that is characterized by hamartomas in multiple organ systems and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TSC2 gene, which encodes tuberin, on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28667702 "DO", https://www.omim.org/entry/613254 "DO"] synonym: "TSC2" EXACT [] synonym: "TSC2 ANGIOMYOLIPOMAS, RENAL, MODIFIER OF" NARROW [] xref: MESH:C566021 xref: NCI:C75331 is_a: DOID:13515 ! tuberous sclerosis [Term] id: DOID:0080326 name: familial hypertrophic cardiomyopathy def: "A hypertrophic cardiomyopathy that is characterized by thickening of the heart muscle and has_material_basis_in autosomal dominant inheritance of one or more gene mutations. (DO)" [https://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy#genes "DO"] synonym: "CARDIOMYOPATHY, IDIOPATHIC DILATED, MITOCHONDRIAL" NARROW [] synonym: "familial asymmetric septal hypertrophy" EXACT [] synonym: "familial hypertrophic cardiomyopathies" EXACT [] synonym: "familial ventricular hypertrophies" EXACT [] synonym: "familial ventricular hypertrophy" EXACT [] synonym: "hereditary ventricular hypertrophies" EXACT [] synonym: "hereditary ventricular hypertrophy" EXACT [] synonym: "hypertrophic cardiomyopathy, mitochondrial" NARROW [] synonym: "obstructive asymmetric septal hypertrophy" EXACT [] synonym: "primary familial hypertrophic cardiomyopathy" EXACT [] xref: MESH:D024741 xref: MIM:PS192600 xref: NCI:C84773 xref: ORDO:217569 is_a: DOID:11984 ! hypertrophic cardiomyopathy is_a: DOID:630 ! genetic disease [Term] id: DOID:0080327 name: multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly def: "A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/?term=28264986 "DO"] synonym: "MARCH" EXACT [] xref: MIM:236500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080328 name: Culler-Jones syndrome def: "A syndrome that is characterized by hypopituitarism (mainly growth hormone deficiency), and/or postaxial polydactyly and has_material_basis_in autosomal dominant heterozygous mutation in the GLI2 gene on chromosome 2q14. Midline facial defects and developmental delay can also be seen. The condition shows incomplete penetrance and high variable expressivity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/?term=29298444 "DO"] synonym: "CJS" EXACT [] synonym: "GLI2-RELATED CONDITION" BROAD [] synonym: "GLI2-RELATED DISORDER" BROAD [] synonym: "Pallister-Hall syndrome 2" EXACT [] synonym: "PHS2" EXACT [] xref: GARD:13349 xref: MIM:615849 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1148 ! polydactyly is_a: DOID:9248 ! Pallister-Hall syndrome is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0080329 name: cold-induced sweating syndrome 1 def: "A cold-induced sweating syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CRLF1 gene on chromosome 19p13 and is characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK52917/ "DO"] synonym: "CISS1" EXACT [] synonym: "Crisponi/cold-induced sweating syndrome 1" EXACT [] synonym: "tetanoform muscle contractions with characteristic face, camptodactyly, hyperthermia, and sudden death" EXACT [] xref: MIM:272430 xref: NCI:C173147 is_a: DOID:0060294 ! cold-induced sweating syndrome [Term] id: DOID:0080330 name: cold-induced sweating syndrome 2 def: "A cold-induced sweating syndrome that has_material_basis_in compound heterozygous mutation in the CLCF1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20400119 "DO"] synonym: "CISS2" EXACT [] synonym: "Crisponi/cold-induced sweating syndrome 2" EXACT [] xref: MIM:610313 xref: NCI:C173148 is_a: DOID:0060294 ! cold-induced sweating syndrome [Term] id: DOID:0080331 name: cold-induced sweating syndrome 3 def: "A cold-induced sweating syndrome that has_material_basis_in homozygous mutation in the KLHL7 gene on chromosome 7p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27392078 "DO"] synonym: "CISS3" EXACT [] synonym: "Crisponi/cold-induced sweating syndrome 3" EXACT [] synonym: "KLHL7-RELATED CONDITION" BROAD [] synonym: "PERCHING" EXACT [] synonym: "PERCHING syndrome" EXACT [] xref: MIM:617055 is_a: DOID:0060294 ! cold-induced sweating syndrome [Term] id: DOID:0080332 name: bicuspid aortic valve disease def: "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. (DO)" [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=402075 "DO"] synonym: "BAV" EXACT [] synonym: "bicuspid aortic valve" EXACT [] synonym: "familial bicuspid aortic valve" EXACT [] xref: MESH:D000082882 xref: MIM:PS109730 xref: ORDO:402075 is_a: DOID:62 ! aortic valve disease [Term] id: DOID:0080333 name: aortic valve disease 1 def: "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the NOTCH1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23388002 "DO"] synonym: "AOVD1" EXACT [] synonym: "calcific aortic stenosis" RELATED [] synonym: "calcific aortic valve disease" RELATED [] synonym: "calcification of aortic valve" RELATED [] synonym: "NOTCH1-RELATED CONDITION" BROAD [] synonym: "NOTCH1-RELATED DISORDER" BROAD [] xref: MIM:109730 xref: MONDO:0024523 xref: NCI:C128803 xref: NCI:C192088 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080332 ! bicuspid aortic valve disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:9004397 ! Calcification of Aortic Valve [Term] id: DOID:0080334 name: aortic valve disease 2 def: "A bicuspid aortic valve disease that has_material_basis_in heterozygous mutation in the SMAD6 gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22275001 "DO"] synonym: "aortic valve stenosis" RELATED [] synonym: "AOVD2" EXACT [] synonym: "bicommissural aortic valve" EXACT [] xref: MIM:614823 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080332 ! bicuspid aortic valve disease [Term] id: DOID:0080335 name: mitochondrial DNA depletion syndrome 12b def: "A mitochondrial DNA depletion syndrome that is characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, muscle weakness, and atrophy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the the solute carrier family 25 member 4 on chromosome 4q35. (DO)" [https://ghr.nlm.nih.gov/gene/SLC25A4#conditions "DO", https://www.ncbi.nlm.nih.gov/pubmed/22187496 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27693233 "DO"] synonym: "autosomal recessive mitochondrial DNA depletion syndrome-12B" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR" EXACT [] synonym: "mitochondrial DNA depletion syndrome 12B (cardiomyopathic type), autosomal recessive" EXACT [] synonym: "MTDPS12B" EXACT [] xref: MIM:615418 xref: ORDO:1369 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0080336 name: mitochondrial DNA depletion syndrome 14 def: "A mitochondrial DNA depletion syndrome that is characterized by severe lethal infantile mitochondrial encephalomyopathy and hypertrophic cardiomyopathy, with hypotonia and peripheral hypertonia with opisthotonic posturing, as well as feeding difficulties and profound neurodevelopmental delay, and has_material_basis_in homozygous mutation in the OPA1 mitochondrial dynamin like GTPase gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26561570 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28494813 "DO"] synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" EXACT [] synonym: "mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)" EXACT [] synonym: "MTDPS14" EXACT [] xref: MIM:616896 is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0080337 name: mitochondrial DNA depletion syndrome 15 alt_id: RDO:9001295 def: "A mitochondrial DNA depletion syndrome that is characterized by severe intrauterine growth restriction, neonatal-onset hypoglycemia and liver dysfunction, mitochondrial DNA depletion in liver and skeletal muscle, and abnormal mitochondrial morphology observed in skeletal muscle, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the mitochondrial transcription factor A gene on chromosome 10q21. (DO)" [https://ghr.nlm.nih.gov/gene/TFAM#conditions "DO", https://www.ncbi.nlm.nih.gov/pubmed/27448789 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28215579 "DO"] synonym: "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" EXACT [] synonym: "MTDPS15" EXACT [] xref: MIM:617156 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:13413 ! hepatic encephalopathy is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0080338 name: familial erythrocytosis 3 def: "A primary polycythemia that has_material_basis_in heterozygous mutation in the EGLN1 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16407130 "DO"] synonym: "ECYT3" EXACT [] xref: MESH:C565221 xref: MIM:609820 xref: MONDO:0012353 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0080339 name: familial erythrocytosis 4 alt_id: MIM:611783 def: "A primary polycythemia that has_material_basis_in autosomal dominant inheritance of gain-of-function mutations in the EPAS1 gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18184961 "DO"] synonym: "ECYT4" EXACT [] xref: MESH:C567086 is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0080342 name: Simpson-Golabi-Behmel syndrome type 2 def: "A syndrome that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22 and is characterized by developmental delay, macrocephaly, and respiratory problems. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16783569 "DO"] synonym: "SGBS2" EXACT [] xref: MESH:C564567 xref: MIM:300209 xref: MONDO:0010265 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080343 name: autosomal recessive pyridoxine-refractory sideroblastic anemia 3 alt_id: RDO:9000362 def: "A sideroblastic anemia that is characterized by homozygous or compound heterozygous mutation in the GLRX5 gene on chromosome 14q32. (DO)" [https://www.omim.org/entry/616860?search=616860&highlight=616860 "DO"] synonym: "pyridoxine-refractory sideroblastic anemia 3" EXACT [] synonym: "SIDBA3" EXACT [] synonym: "sideroblastic anemia-3" EXACT [] xref: MIM:616860 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0080344 name: blepharocheilodontic syndrome def: "A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28301459 "DO"] synonym: "Blepharo-Cheilo-Dontic Syndrome" EXACT [] synonym: "blepharo-cheilo-odontic syndrome" EXACT [] synonym: "Clefting, ectropion, and conical teeth" EXACT [] synonym: "ECTROPION INFERIOR CLEFT LIP AND OR PALATE" EXACT [] synonym: "Elschnig syndrome" EXACT [] synonym: "lagophthalmia with bilateral cleft lip and palate" EXACT [] xref: MESH:C536188 xref: MIM:PS119580 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1570 ! ectropion is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9004934 ! BILATERAL CLEFT LIP is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0080345 name: blepharocheilodontic syndrome 1 alt_id: RDO:9005143 def: "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CDH1 gene on chromosome 16q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28301459 "DO"] synonym: "BCDS1" EXACT [] xref: MIM:119580 is_a: DOID:0080344 ! blepharocheilodontic syndrome [Term] id: DOID:0080346 name: blepharocheilodontic syndrome 2 def: "A blepharocheilodontic syndrome that has_material_basis_in heterozygous mutation in the CTNND1 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28301459 "DO"] synonym: "BCDS2" EXACT [] xref: MIM:617681 is_a: DOID:0080344 ! blepharocheilodontic syndrome [Term] id: DOID:0080347 name: malignant pheochromocytoma def: "An adrenal medulla cancer that arises within the adrenal medulla, releasing epinephrines and norepinephrines hormones. (DO)" [https://www.omim.org/entry/171300 "DO"] synonym: "EFO:1000348" EXACT [] xref: EFO:1000348 xref: ICDO:8700/3 is_a: DOID:0050771 ! pheochromocytoma is_a: DOID:5719 ! adrenal medulla cancer [Term] id: DOID:0080348 name: Alzheimer's disease 1 alt_id: DOID:9005726 def: "An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. (DO)" [https://www.omim.org/entry/104300?search=104300&highlight=104300 "DO"] synonym: "AD1" EXACT [] synonym: "Alzheimer's disease 1, early onset" EXACT [] synonym: "Alzheimer's Disease, Familial, 1" NARROW [] synonym: "Alzheimer's Disease Type 1" EXACT [] synonym: "Alzheimer disease 1" EXACT [] synonym: "Alzheimer disease type 1" EXACT [] synonym: "APP POLYMORPHISM" RELATED [] synonym: "APP-RELATED CONDITION" BROAD [] synonym: "BLEOMYCIN HYDROLASE POLYMORPHISM" RELATED [] synonym: "early-onset familial form of Alzheimer disease" EXACT [] xref: MESH:C536594 xref: MIM:104300 xref: MONDO:0007088 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0080349 name: developmental and epileptic encephalopathy 39 alt_id: MIM:612949 def: "A developmental and epileptic encephalopathy characterized by global developmental delay apparent in early infancy, early-onset seizures, hypotonia, poor motor function, and hypomyelination in the brain that has_material_basis_in mutation in the SLC25A12 gene on chromosome 2q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19641205/ "DO", https://pubmed.ncbi.nlm.nih.gov/24515575/ "DO", https://www.omim.org/entry/612949?search=612949 "DO"] synonym: "AGC1 deficiency" EXACT [] synonym: "aspartate-glutamate carrier 1 deficiency" EXACT [] synonym: "DEE39" EXACT [] synonym: "early infantile epileptic encephalopathy 39" EXACT [] synonym: "EIEE39" EXACT [] synonym: "epileptic encephalopathy with global cerebral demyelination" EXACT [] synonym: "global cerebral hypomyelination" EXACT [] synonym: "mitochondrial aspartate-glutamate carrier 1 deficiency" EXACT [] xref: MESH:C567847 xref: ORDO:353217 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:0080350 name: retinitis pigmentosa 77 def: "A retinitis pigmentosa that has_material_basis_in mutation in the REEP6 gene on chromosome 19p13. (DO)" [https://www.omim.org/entry/617304 "DO"] synonym: "REEP6-RELATED CONDITION" EXACT [] synonym: "RP77" EXACT [] xref: MIM:617304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0080351 name: CLOVES syndrome alt_id: MIM:612918 def: "A syndrome that is characterized by congenital lipomatous overgrowth, progressive, complex and mixed truncal vascular malformation, and epidermal nevi that has_material_basis_in somatic mosaicism for postzygotic activating mutations in the PIK3CA gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25209813 "DO"] synonym: "Clove Syndrome" EXACT [] synonym: "Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi" EXACT [] synonym: "Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal-Spinal Abnormalities" EXACT [] xref: GARD:10939 xref: ICD10CM:Q87.3 xref: MESH:C567863 xref: ORDO:140944 is_a: DOID:225 ! syndrome is_a: DOID:3315 ! lipoma is_a: DOID:9002969 ! Nevus is_a: DOID:9003191 ! Vascular Malformations is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:0080352 name: X-linked chondrodysplasia punctata 2 def: "A chondrodysplasia puncata that has_material_basis_in mutation in the gene encoding delta(8)-delta(7) sterol isomerase emopamil-binding protein on chromosome Xp11. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-chondrodysplasia-punctata-2 "DO"] synonym: "atypical X-linked dominant chondrodysplasia punctata 2" NARROW [] synonym: "CDPX2" EXACT [] synonym: "CDPXD" EXACT [] synonym: "Conradi-Hunermann-Happle Syndrome" EXACT [] synonym: "Conradi Hunermann Syndrome" EXACT [] synonym: "Conradi Hünermann Happle syndrome" EXACT [] synonym: "Conradi Hünermann Syndrome" EXACT [] synonym: "CPXD" EXACT [] synonym: "Happle syndrome" EXACT [] synonym: "X-linked dominant chondrodysplasia punctata 2" EXACT [] xref: MIM:302960 xref: MONDO:0020603 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:2581 ! chondrodysplasia punctata [Term] id: DOID:0080353 name: X-linked recessive hypophosphatemic rickets def: "A rickets that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11.22. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-hypophosphatemic-rickets "DO"] xref: MIM:300554 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9007505 ! Familial Hypophosphatemic Rickets [Term] id: DOID:0080354 name: Phelan-McDermid syndrome alt_id: MIM:606232 def: "A chromosomal deletion syndrome that has_material_basis_in a deletion, translocation, ring chromosome formation or other structural change of the terminal end of chromosome 22 in the 22q13 region or a disease-causing mutation of the SHANK3 gene and that is characterized by neonatal hypotonia, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. Most cases of 22q13.3 deletion syndrome are not inherited with 20% of cases (autosomal dominant) inherited from a parent. The deletion occurs most often as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. (DO)" [https://en.wikipedia.org/wiki/22q13_deletion_syndrome "DO", https://ghr.nlm.nih.gov/condition/22q133-deletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1198/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29719671 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29896732 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30089781 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=48652 "DO"] synonym: "22q13.3 deletion syndrome" EXACT [] synonym: "22q13 deletion syndrome" EXACT [] synonym: "chromosome 22q13.3 deletion syndrome" EXACT [] synonym: "monosomy 22q13" EXACT [] synonym: "monosomy 22q13 syndrome" EXACT [] synonym: "PHMDS" EXACT [] synonym: "SHANK3-RELATED CONDITION" BROAD [] synonym: "SHANK3-related disorder" BROAD [] synonym: "telomeric 22q13 monosomy syndrome" EXACT [] xref: GARD:10130 xref: MESH:C536801 xref: NCI:C157124 xref: ORDO:48652 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0080355 name: hepatobiliary system cancer def: "A gastrointestinal system cancer that is located_in the hepatobiliary system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461147/ "DO"] xref: EFO:0008550 is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:0080356 name: IgG4-related disease def: "An autoimmune disease that is characterized by tumefactive lesions, a dense lymphoplasmacytic infiltrate rich in IgG4-positive plasma cells, storiform fibrosis, obliterative phlebitis, autoimmune pancreatitis, and sometimes elevated serum IgG4 levels affecting various organs. (DO)" [https://rarediseases.info.nih.gov/diseases/12521/index "DO", https://www.ncbi.nlm.nih.gov/articles/PMC4760655/ "DO", https://www.nejm.org/doi/full/10.1056/NEJMra1104650 "DO"] xref: GARD:12521 xref: NCI:C95992 xref: ORDO:284264 is_a: DOID:417 ! autoimmune disease [Term] id: DOID:0080357 name: mitochondrial complex IV deficiency nuclear type 2 alt_id: MIM:604377 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the SCO2 gene on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10746561/ "DO"] synonym: "CEMCOX1" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 1" EXACT [] synonym: "fatal infantile cytochrome c oxidase deficiency with cardioencephalomyopathy" EXACT [] synonym: "MC4DN2" EXACT [] xref: MESH:C565784 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080358 name: mitochondrial complex IV deficiency nuclear type 6 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in compound heterozygous mutation in the COX15 gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10545952/ "DO"] synonym: "CEMCOX2" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 2" EXACT [] synonym: "MC4DN6" EXACT [] xref: MIM:615119 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080359 name: mitochondrial complex IV deficiency nuclear type 9 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous mutation in the COA5 gene on chromosome 2q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12928484/ "DO"] synonym: "CEMCOX3" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-3" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 3" EXACT [] synonym: "MC4DN9" EXACT [] xref: MIM:616500 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080360 name: mitochondrial complex IV deficiency nuclear type 13 def: "A COX deficiency, infantile mitochondrial myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the COA6 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25339201/ "DO"] synonym: "CEMCOX4" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase (COX) deficiency-4" EXACT [] synonym: "fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency 4" EXACT [] synonym: "MC4DN13" EXACT [] xref: MIM:616501 is_a: DOID:0050713 ! COX deficiency, infantile mitochondrial myopathy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080361 name: trimethylaminuria alt_id: MIM:602079 def: "An inherited metabolic disorder characterized by the inabilty to break down trimethylamine and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding flavin-containing monooxygenase-3 on chromosome 1q24. (DO)" [https://ghr.nlm.nih.gov/condition/trimethylaminuria "DO", https://www.genome.gov/Genetic-Disorders/Trimethylaminuria "DO"] synonym: "fish malodor syndrome" EXACT [] synonym: "fish odor syndrome" EXACT [] synonym: "stale fish syndrome" EXACT [] synonym: "TMAU" EXACT [] synonym: "TMAuria" EXACT [] xref: GARD:6447 xref: MESH:C536561 xref: ORDO:468726 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080362 name: X-linked spondyloepiphyseal dysplasia tarda def: "A spondyloepiphyseal dysplasia that is characterized by impaired growth of bones of the spine and the ends of long bones in the arms and legs and has_material_basis_in mutation in the SEDL gene on chromosome Xp22. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-spondyloepiphyseal-dysplasia-tarda "DO"] synonym: "SEDT" EXACT [] synonym: "SED tarda" EXACT [] synonym: "SED tarda, X-linked" EXACT [] synonym: "X-linked SED" EXACT [] synonym: "X-linked SEDT" EXACT [] xref: MIM:313400 xref: ORDO:93284 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda [Term] id: DOID:0080363 name: mitochondrial pyruvate carrier deficiency def: "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22628558 "DO"] synonym: "MPYCD" EXACT [] xref: MIM:614741 xref: NCI:C202117 xref: ORDO:447784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3650 ! lactic acidosis is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0080364 name: malignant adenoma def: "A cell type cancer that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures, representing an early form of colorectal cancer. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18363065/ "DO"] synonym: "malignant adenomas" EXACT [] is_a: DOID:0050687 ! cell type cancer [Term] id: DOID:0080365 name: endometrial hyperplasia def: "An uterine benign neoplasm that is characterized by excessive proliferation of the cells of the endometrium. (DO)" [https://en.wikipedia.org/wiki/Endometrial_hyperplasia "DO"] synonym: "endometrial hyperplasias" EXACT [] synonym: "simple endometrial hyperplasia" NARROW [] synonym: "simple endometrial hyperplasias" NARROW [] synonym: "Simple Endometrial Hyperplasia with Atypia" NARROW [] xref: EFO:1000098 xref: EFO:1000202 xref: EFO:1000525 xref: EFO:1000526 xref: MESH:D004714 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:1005 ! endometrial disease [Term] id: DOID:0080366 name: desmoid tumor def: "A connective tissue benign neoplasm that occur most often in the abdomen, arms and legs. (DO)" [https://ghr.nlm.nih.gov/condition/desmoid-tumor "DO", https://rarediseases.org/rare-diseases/desmoid-tumor/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28489620 "DO"] synonym: "EFO:0009907" EXACT [] xref: EFO:0009907 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:0080367 name: chronic eosinophilic leukemia def: "A chronic leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in persistently increased numbers of eosinophils in the blood, marrow and peripheral tissues. (DO)" [https://ghr.nlm.nih.gov/condition/pdgfra-associated-chronic-eosinophilic-leukemia "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/def/chronic-eosinophilic-leukemia "DO"] xref: EFO:1000178 xref: ICDO:9964/3 xref: NCI:C4563 is_a: DOID:1036 ! chronic leukemia is_a: DOID:9005977 ! eosinophilic leukemia [Term] id: DOID:0080368 name: sex cord-stromal benign neoplasm def: "A reproductive organ benign neoplasm that arises in the ovary or testis and that is composed of granulosa cells, Leydig cells, Sertoli cells, and/or fibroblasts. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sex-cord-stromal-tumor "DO"] is_a: DOID:0050622 ! reproductive organ benign neoplasm [Term] id: DOID:0080369 name: ovarian sex-cord stromal tumor def: "A sex cord-gonadal stromal tumor that arises from the ovary and is composed of granulosa cells, Sertoli cells, Leydig cells, theca cells, and fibroblasts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C4862&ns=ncit "DO"] synonym: "Ovarian Sclerosing Stromal Tumor" NARROW [] synonym: "Ovarian Sex Cord Tumor with Annular Tubules" NARROW [] xref: EFO:1000424 xref: EFO:1000426 xref: EFO:1000430 xref: NCI:C4862 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:0080370 name: ovarian sex cord-stromal benign neoplasm def: "A sex cord-stromal benign neoplasm that arises from the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4498422/ "DO"] xref: NCI:C6803 is_a: DOID:0080368 ! sex cord-stromal benign neoplasm [Term] id: DOID:0080371 name: testicular sex cord-stromal benign neoplasm def: "A sex cord-stromal benign neoplasm that arises from the testis. (DO)" [http://www.pathologyoutlines.com/topic/testissexcordgeneral.html "DO"] is_a: DOID:0080368 ! sex cord-stromal benign neoplasm [Term] id: DOID:0080372 name: epithelioid inflammatory myofibroblastic sarcoma def: "An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21164297 "DO"] is_a: DOID:0050905 ! inflammatory myofibroblastic tumor [Term] id: DOID:0080373 name: epididymis disease def: "A male reproductive system disease that is located_in the epididymis. (DO)" [https://en.wikipedia.org/wiki/Epididymis "DO"] is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:0080374 name: gastroesophageal cancer def: "A gastrointestinal system cancer that is located_in the proximal esophagus and the distal stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6042434 "DO"] is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:0080375 name: gastroesophageal adenocarcinoma def: "A gastroesophageal cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5827797 "DO"] synonym: "gastric and esophageal adenocarcinoma" EXACT [] synonym: "gastro-esophageal adenocarcinoma" EXACT [] is_a: DOID:0080374 ! gastroesophageal cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:0080376 name: trichorhinophalangeal syndrome type III alt_id: MIM:190351 def: "A syndrome that is characterized by sparse hair, beaked nose, long upper lip, and severe metacarpophalangeal shortening and has_material_basis_in heterozygous mutation in the TRPS1 gene on chromosome 8q23. (DO)" [https://rarediseases.info.nih.gov/diseases/7802/disease "DO"] synonym: "Sugio-Kajii syndrome" EXACT [] synonym: "trichorhinophalangeal syndrome type 3" EXACT [] synonym: "TRPS3" EXACT [] xref: MESH:C566033 xref: ORDO:77258 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:421 ! hair disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9001487 ! Facies is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9005517 ! Trichorhinophalangeal Syndrome [Term] id: DOID:0080377 name: peroxisomal biogenesis disorder def: "A peroxisomal biogenesis disorder that has_material_basis_in defects in PEX genes. (DO)" [https://ghr.nlm.nih.gov/condition/zellweger-spectrum-disorder "DO", https://rarediseases.org/rare-diseases/zellweger-spectrum-disorders/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26627182 "DO"] synonym: "PEROXISOME BIOGENESIS DISORDER DUE TO PEX5 DEFECT" NARROW [] synonym: "peroxisome biogenesis disorders" EXACT [] xref: MESH:C536664 xref: MIM:PS214100 is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0080379 name: nephrotic syndrome type 2 def: "A familial nephrotic syndrome characterized by steroid resistance and childhood onset of proteinuria, hypoalbuminemia, hyperlipidemia, and edema that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS2 gene encoding podocin on chromosome 1q25-q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10742096 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8606597 "DO"] synonym: "nephrotic syndrome type 2, susceptibility to" RELATED [] synonym: "NPHS2" EXACT [] synonym: "NPHS2-RELATED CONDITION" EXACT [] synonym: "SRN1" EXACT [] synonym: "steroid-resistant nephrotic syndrome" EXACT [] synonym: "steroid-resistant nephrotic syndrome, autosomal recessive" EXACT [] synonym: "steroid-resistant nephrotic syndrome, familial idiopathic" EXACT [] synonym: "steroid-resistant nephrotic syndrome, idiopathic" EXACT [] xref: MESH:C536404 xref: MIM:600995 xref: MONDO:0010974 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1312 ! focal segmental glomerulosclerosis is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080380 name: nephrotic syndrome type 5 alt_id: DOID:9007459 def: "A familial nephrotic syndrome characterized by prenatal or neonatal onset of progressive renal failure with proteinurea and edema that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB2 gene on chromosome 3p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16912710 "DO"] synonym: "Diffuse Renal Mesangial Sclerosis, with Ocular Abnormalities" EXACT [] synonym: "nephrotic syndrome type 5, with or without ocular abnormalities" EXACT [] synonym: "NPHS5" EXACT [] xref: MESH:C565405 xref: MIM:614199 xref: MONDO:0013621 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001617 ! Congenital Nephrotic Syndrome with or without Ocular Abnormalities is_a: DOID:9007896 ! Sclerosis [Term] id: DOID:0080381 name: nephrotic syndrome type 13 def: "A familial nephrotic syndrome characterized by early onset of steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis that has_material_basis_in homozygous mutation in the NUP205 gene on chromosome 7q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26878725 "DO"] synonym: "NPHS13" EXACT [] xref: MIM:616893 xref: MONDO:0014818 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080382 name: nephrotic syndrome type 3 def: "A familial nephrotic syndrome characterized by early childhood onset, steroid restance and diffuse mesangial sclerosis in most patients that has_material_basis_in homozygous or compound heterozygous mutation in the PLCE1 gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17086182 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18065803 "DO"] synonym: "early-onset nephrotic syndrome type 3" EXACT [] synonym: "NPHS3" EXACT [] synonym: "PLCE1-related condition" EXACT [] xref: MIM:610725 xref: MONDO:0012546 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080383 name: nephrotic syndrome type 4 def: "A familial nephrotic syndrome that has_material_basis_in heterozygous mutation in the WT1 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9529364 "DO"] synonym: "NPHS4" EXACT [] xref: MIM:256370 xref: MONDO:0009733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080384 name: nephrotic syndrome type 6 def: "A familial nephrotic syndrome that has_material_basis_in homozygous mutation in the PTPRO gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21722858 "DO"] synonym: "NPHS6" EXACT [] xref: MIM:614196 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080385 name: nephrotic syndrome type 11 def: "A familial nephrotic syndrome characterized by onset in the first decade of life of steroid resistant progressive renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26411495 "DO"] synonym: "NPHS11" EXACT [] xref: MIM:616730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080386 name: nephrotic syndrome type 10 alt_id: RDO:9001503 def: "A familial nephrotic syndrome characterized by early childhood onset that has_material_basis_in homozygous or compound heterozygous mutation in the EMP2 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24814193 "DO"] synonym: "NPHS10" EXACT [] xref: MIM:615861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080387 name: nephrotic syndrome type 12 def: "A familial nephrotic syndrome characterized by early childhood onset of steroid-resistant progressive renal failure with focal segmental glomerulosclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the NUP93 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26878725 "DO"] synonym: "NPHS12" EXACT [] synonym: "NUP93-RELATED CONDITION" EXACT [] xref: MIM:616892 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080388 name: nephrotic syndrome type 7 def: "A familial nephrotic syndrome characterized by onset in the first decade of life of progressive renal disease with proteinuria and membranoproliferative glomerulonephritis that has_material_basis_in homozygous or compound heterozygous mutation in the DGKE gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23274426 "DO"] synonym: "AHUS7" NARROW [] synonym: "AHUS, SUSCEPTIBILITY TO, 7" RELATED [] synonym: "DGKE-RELATED CONDITION" EXACT [] synonym: "HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 7" RELATED [] synonym: "HEMOLYTIC UREMIC SYNDROME WITH DGKE DEFICIENCY" RELATED [] synonym: "Ig-mediated membranoproliferative glomerulonephritis" EXACT [] synonym: "Ig-mediated MPGN" EXACT [] synonym: "immunoglobulin-mediated membranoproliferative glomerulonephritis" EXACT [] synonym: "Immunoglobulin-mediated MPGN" EXACT [] synonym: "nephrotic syndrome type 7, with membranoproliferative glomerulonephritis" EXACT [] synonym: "nephrotic syndrome type 7, with membranoptoliferative glomerulonephritis" EXACT [] synonym: "NPHS7" EXACT [] xref: MIM:615008 xref: MONDO:0014005 xref: ORDO:329903 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome is_a: DOID:2920 ! membranoproliferative glomerulonephritis [Term] id: DOID:0080389 name: nephrotic syndrome type 8 def: "A familial nephrotic syndrome characterized by neonatal or early childhood onset steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGDIA gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23434736 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23867502 "DO"] synonym: "NPHS8" EXACT [] xref: MIM:615244 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080390 name: nephrotic syndrome type 1 def: "A familial nephrotic syndrome characterized by prenatal onset of massive proteinuria followed by steroid resistant renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the NPHS1 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10577936 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9660941 "DO"] synonym: "congenital nephrosis 1, Finnish type" EXACT [] synonym: "Congenital nephrotic syndrome 1" EXACT [] synonym: "Congenital nephrotic syndrome, Finnish type" EXACT [] synonym: "Finnish congenital nephrosis" EXACT [] synonym: "Finnish congenital nephrotic syndrome" EXACT [] synonym: "idiopathic nephrotic syndrome" EXACT [] synonym: "NPHS1" EXACT [] synonym: "NPHS1-RELATED CONDITION" EXACT [] xref: GARD:1500 xref: MIM:256300 xref: NCI:C122795 xref: NCI:C122796 xref: ORDO:839 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080391 name: nephrotic syndrome type 9 def: "A familial nephrotic syndrome characterized by steroid-resistant proteinuria, hypoalbuminemia and edema with onset in the first or second decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the COQ8B gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24270420 "DO"] synonym: "NPHS9" EXACT [] xref: MIM:615573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080392 name: nephrotic syndrome type 17 def: "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP85 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30179222 "DO"] synonym: "NPHS17" EXACT [] xref: MIM:618176 xref: MONDO:0032580 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080393 name: nephrotic syndrome type 18 def: "A familial nephrotic syndrome that has_material_basis_in by homozygous or compound heterozygous mutation in the NUP133 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30179222 "DO"] synonym: "NPHS18" EXACT [] xref: MIM:618177 xref: MONDO:0032581 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080394 name: nephrotic syndrome type 19 def: "A familial nephrotic syndrome that has_material_basis_in compound heterozygous mutation in the NUP160 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30179222 "DO"] synonym: "NPHS19" EXACT [] synonym: "NUP160-RELATED CONDITION" EXACT [] xref: MIM:618178 xref: MONDO:0032582 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome [Term] id: DOID:0080395 name: orofacial cleft 1 alt_id: MIM:119530 def: "An orofacial cleft characterized by autosomal dominant inheritance that has_material_basis_in variation in chromosome region 6p24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7711723 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 1" EXACT [] synonym: "OFC1" EXACT [] xref: MESH:C566121 xref: NCI:C124838 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080396 name: orofacial cleft 2 alt_id: MIM:602966 def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2570526 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 2" EXACT [] synonym: "OFC2" EXACT [] xref: MESH:C566419 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080397 name: orofacial cleft 3 alt_id: MIM:600757 def: "An orofacial cleft that has_material_basis_in variation in the chromosomal region 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7668251 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 3" EXACT [] synonym: "OFC3" EXACT [] xref: MESH:C563448 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080398 name: orofacial cleft 4 alt_id: MIM:608371 def: "An orofacial cleft that has_material_basis_in variation in the 4q21-q31 chromosomal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12087515 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7820940 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 4" EXACT [] synonym: "OFC4" EXACT [] xref: MESH:C564251 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080399 name: orofacial cleft 5 def: "An orofacial cleft that has_material_basis_in mutation in the MSX1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10742093 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12807959 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 5" EXACT [] synonym: "OFC5" EXACT [] xref: MESH:C563843 xref: MIM:608874 xref: MONDO:0012142 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080400 name: orofacial cleft 7 def: "An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10932188 "DO"] xref: MESH:C563464 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11193 ! syndactyly is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0080401 name: orofacial cleft 8 alt_id: MIM:618149 def: "An orofacial cleft that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29500247 "DO"] xref: MESH:C565069 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080402 name: orofacial cleft 9 def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 13q33.1-q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16909398 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 9" EXACT [] synonym: "OFC9" EXACT [] xref: MESH:C563675 xref: MIM:610361 xref: MONDO:0012478 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080403 name: orofacial cleft 10 alt_id: MIM:613705 def: "An orofacial cleft that has_material_basis_in mutation in the SUMO1 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16990542 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 10" EXACT [] synonym: "OFC10" EXACT [] xref: MESH:C566605 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080404 name: orofacial cleft 11 alt_id: MIM:600625 def: "An orofacial cleft that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19249007 "DO"] synonym: "BMP4-RELATED CONDITION" BROAD [] synonym: "CHCL" NARROW [] synonym: "CONGENITAL HEALED CLEFT LIP" NARROW [] synonym: "nonsyndromic cleft lip with or without cleft palate 11" EXACT [] synonym: "OFC11" EXACT [] xref: MESH:C567410 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080405 name: orofacial cleft 12 def: "An orofacial cleft that has_material_basis_in variation in the chromosome region 8q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19270707 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 12" EXACT [] synonym: "OFC12" EXACT [] xref: MESH:C567548 xref: MIM:612858 xref: MONDO:0013023 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080406 name: orofacial cleft 13 def: "An orofacial cleft characterized by autosomal doninant inhertitance that has_material_basis_in variation in chromosome region 1p33 associated with enrichment of the T allele of SNP rs3827730. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21295280 "DO"] synonym: "OFC13" EXACT [] xref: MIM:613857 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080407 name: orofacial cleft 14 def: "An orofacial cleft that is characterized by incomplete median clefts of both the lower lip and upper lip, double labial frenulum and fusion of the upper gingival and upper labial mucosa, in addition to poor dental alignment, and increased interdental distance between the lower and upper median incisors. (DO)" [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=401942 "DO"] synonym: "OFC14" EXACT [] xref: MIM:615892 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080408 name: orofacial cleft 15 def: "An orofacial cleft that has_material_basis_in mutation in the DLX4 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25954033 "DO"] synonym: "OFC15" EXACT [] xref: MIM:616788 is_a: DOID:0050567 ! orofacial cleft [Term] id: DOID:0080409 name: familial adenomatous polyposis 1 def: "A familial adenomatous polyposis that has_material_basis_in heterozygous mutation in the APC gene on chromosome 5q22. (DO)" [https://ghr.nlm.nih.gov/condition/familial-adenomatous-polyposis "DO", https://www.ncbi.nlm.nih.gov/pubmed/1651563 "DO"] synonym: "FAP1" EXACT [] xref: MIM:175100 xref: MONDO:0021056 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080410 name: familial adenomatous polyposis 2 alt_id: MIM:608456 def: "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the MUTYH gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12853198 "DO"] synonym: "Colorectal Adenomatous Polyposis, Autosomal Recessive" EXACT [] synonym: "COLORECTAL ADENOMATOUS POLYPOSIS, AUTOSOMAL RECESSIVE, WITH PILOMATRICOMAS" NARROW [] synonym: "FAP2" EXACT [] synonym: "multiple colorectal adenomas, autosomal recessive" EXACT [] synonym: "mutyh-associated polyposis" EXACT [] synonym: "MUTYH-related attenuated familial adenomatous polyposis" EXACT [] synonym: "MUTYH-related attenuated familial polyposis coli" EXACT [] synonym: "MUTYH-related attenuated FAP" EXACT [] xref: EFO:0009296 xref: ICD10CM:D12.6 xref: MESH:C563924 xref: ORDO:247798 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080411 name: familial adenomatous polyposis 3 def: "A familial adenomatous polyposis that has_material_basis_in homozygous or compound heterozygous mutation in the NTHL1 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25938944 "DO"] synonym: "FAP3" EXACT [] synonym: "NTHL1-RELATED CONDITION" EXACT [] xref: MIM:616415 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080412 name: familial adenomatous polyposis 4 def: "A familial adenomatous polyposis characterized by the development of multiple colonic adenomas in adulthood, often with progression to colorectal cancer and that has_material_basis_in compound heterozygous mutation in the MSH3 gene on chromosome 5q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27476653 "DO"] synonym: "FAP4" EXACT [] synonym: "MSH3-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS" EXACT [] synonym: "MSH3-RELATED CONDITION" BROAD [] xref: MIM:617100 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080413 name: developmental and epileptic encephalopathy 18 def: "A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23932106 "DO"] synonym: "DEE18" EXACT [] synonym: "early infantile epileptic encephalopathy 18" EXACT [] synonym: "EIEE18" EXACT [] synonym: "SZT2-RELATED CONDITION" EXACT [] xref: GARD:13676 xref: MIM:615476 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080414 name: developmental and epileptic encephalopathy 15 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23252400 "DO"] synonym: "DEE15" EXACT [] synonym: "early infantile epileptic encephalopathy 15" EXACT [] synonym: "EIEE15" EXACT [] synonym: "epilepsy due to perinatal stroke" NARROW [] xref: MIM:615006 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080415 name: developmental and epileptic encephalopathy 23 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24814191 "DO"] synonym: "DEE23" EXACT [] synonym: "early infantile epileptic encephalopathy 23" EXACT [] synonym: "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [] synonym: "EIEE23" EXACT [] synonym: "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome" EXACT [] xref: MIM:615859 xref: ORDO:411986 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080416 name: developmental and epileptic encephalopathy 32 def: "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25751627 "DO"] synonym: "DEE32" EXACT [] synonym: "early infantile epileptic encephalopathy 32" EXACT [] synonym: "EIEE32" EXACT [] synonym: "KCNA2-RELATED CONDITION" EXACT [] synonym: "KCNA2-RELATED DISORDER" EXACT [] xref: MIM:616366 xref: NCI:C155998 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080417 name: developmental and epileptic encephalopathy 38 def: "A developmental and epileptic encephalopathy characterized by onset of seizures between 4 and 7 months of age, severely impaired global development, hypotonia with poor head control, and visual inattention that has_material_basis_in homozygous or compound heterozygous mutation in the ARV1 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32165008/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25558065 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27270415 "DO"] synonym: "ARV1-related condition" BROAD [] synonym: "DEE38" EXACT [] synonym: "early infantile epileptic encephalopathy 38" EXACT [] synonym: "EIEE38" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 23" EXACT [] synonym: "GPIBD23" EXACT [] xref: MIM:617020 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency [Term] id: DOID:0080418 name: developmental and epileptic encephalopathy 54 def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27652284 "DO"] synonym: "DEE54" EXACT [] synonym: "early infantile epileptic encephalopathy 54" EXACT [] synonym: "EIEE54" EXACT [] xref: MIM:617391 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080419 name: developmental and epileptic encephalopathy 50 def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28007989 "DO"] synonym: "carbohydrate deficient glycoprotein syndrome type Iz" EXACT [] synonym: "CDG1Z" EXACT [] synonym: "CDG-Iz" EXACT [] synonym: "CDG syndrome type Iz" EXACT [] synonym: "congenital disorder of glycosylation type 1Z" EXACT [] synonym: "congenital disorder of glycosylation type Iz" EXACT [] synonym: "DEE50" EXACT [] synonym: "early infantile epileptic encephalopathy 50" EXACT [] synonym: "EIEE50" EXACT [] xref: GARD:13621 xref: MIM:616457 xref: NCI:C190868 xref: ORDO:448010 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:5212 ! congenital disorder of glycosylation [Term] id: DOID:0080420 name: developmental and epileptic encephalopathy 62 def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first weeks or months of life, severe to profound developmental delay, hypotonia, and impaired motor and cognitive development that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29466837 "DO"] synonym: "DEE62" EXACT [] synonym: "early infantile epileptic encephalopathy 62" EXACT [] synonym: "EIEE62" EXACT [] synonym: "SCN3A-RELATED CONDITION" BROAD [] synonym: "SCN3A-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:617938 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080421 name: developmental and epileptic encephalopathy 11 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurologic development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19786696 "DO"] synonym: "COMPLEX NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "DEE11" EXACT [] synonym: "early infantile epileptic encephalopathy 11" EXACT [] synonym: "EIEE11" EXACT [] synonym: "EPILEPSY OF INFANCY WITH MIGRATING FOCAL SEIZURES" NARROW [] synonym: "SCN2A-related disorder" BROAD [] synonym: "SCN2A-RELATED GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS" EXACT [] xref: MIM:613721 xref: MONDO:0013388 xref: NCI:C172096 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080422 name: Dravet syndrome alt_id: DOID:0060171 def: "A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27544470/ "DO", https://rarediseases.info.nih.gov/diseases/10430/dravet-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/11359211 "DO"] synonym: "DEE6" EXACT [] synonym: "DEE6A" EXACT [] synonym: "developmental and epileptic encephalopathy 6" EXACT [] synonym: "developmental and epileptic encephalopathy 6A" EXACT [] synonym: "Dravet syndromes" EXACT [] synonym: "early infantile epileptic encephalopathy 6" EXACT [] synonym: "EIEE6" EXACT [] synonym: "severe myoclonic epilepsy in infancy" EXACT [] synonym: "severe myoclonic epilepsy of infancy" EXACT [] synonym: "SMEI" EXACT [] xref: GARD:10430 xref: MIM:607208 xref: NCI:C116573 xref: NCI:C147071 xref: ORDO:33069 is_a: DOID:0050703 ! infancy electroclinical syndrome is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:0080424 name: developmental and epileptic encephalopathy 44 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory infantile spasms or myoclonus with developmental stagnation and severe neurologic impairment after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27545681/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/27545674 "DO"] synonym: "DEE44" EXACT [] synonym: "early infantile epileptic encephalopathy 44" EXACT [] synonym: "EIEE44" EXACT [] synonym: "UBA5-RELATED CONDITION" BROAD [] xref: MIM:617132 xref: NCI:C202547 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080425 name: developmental and epileptic encephalopathy 47 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27872899/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/27164707 "DO"] synonym: "DEE47" EXACT [] synonym: "early infantile epileptic encephalopathy 47" EXACT [] synonym: "EIEE47" EXACT [] synonym: "FGF12-RELATED CONDITION" EXACT [] xref: MIM:617166 xref: NCI:C201514 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080426 name: developmental and epileptic encephalopathy 63 def: "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of refractory infantile spasms and myoclonic seizures and evere to profound developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CPLX1 gene on chromosome 4p16. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28422131/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26539891 "DO"] synonym: "DEE63" EXACT [] synonym: "early infantile epileptic encephalopathy 63" EXACT [] synonym: "EIEE63" EXACT [] xref: MIM:617976 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080427 name: developmental and epileptic encephalopathy 40 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the GUF1 gene on chromosome 4p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26486472 "DO"] synonym: "DEE40" EXACT [] synonym: "early infantile epileptic encephalopathy 40" EXACT [] synonym: "EIEE40" EXACT [] xref: MIM:617065 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080428 name: developmental and epileptic encephalopathy 45 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, severely impaired intellectual development, hypotonia, and other persistent neurologic deficits that has_material_basis_in heterozygous mutation in the GABRB1 gene on chromosome 4p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31618474/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23934111 "DO"] synonym: "DEE45" EXACT [] synonym: "early infantile epileptic encephalopathy 45" EXACT [] synonym: "EIEE45" EXACT [] xref: MIM:617153 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080429 name: developmental and epileptic encephalopathy 24 def: "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30351409/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24747641 "DO"] synonym: "DEE24" EXACT [] synonym: "early infantile epileptic encephalopathy 24" EXACT [] synonym: "EIEE24" EXACT [] xref: MIM:615871 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080430 name: developmental and epileptic encephalopathy 65 def: "A developmental and epileptic encephalopathy characterized by onset in the first months to years of life of various types of intractable seizures, severe to profound psychomotor developmental delay, and mild facial dysmorphism that has_material_basis_in heterozygous mutation in the CYFIP2 gene on chromosome 5q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29534297 "DO"] synonym: "CYFIP2-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "DEE65" EXACT [] synonym: "early infantile epileptic encephalopathy 65" EXACT [] synonym: "EIEE65" EXACT [] xref: MIM:618008 xref: NCI:C201518 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080431 name: developmental and epileptic encephalopathy 19 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life and mild to moderate impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA1 gene on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24623842 "DO"] synonym: "DEE19" EXACT [] synonym: "early infantile epileptic encephalopathy 19" EXACT [] synonym: "EIEE19" EXACT [] xref: MIM:615744 xref: NCI:C142802 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080432 name: developmental and epileptic encephalopathy 60 def: "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29394991 "DO"] synonym: "DEE60" EXACT [] synonym: "early infantile epileptic encephalopathy 60" EXACT [] synonym: "EIEE60" EXACT [] xref: MIM:617929 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080433 name: developmental and epileptic encephalopathy 51 def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures and hypotonia in the first days or weeks of life and severely delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the MDH2 gene on chromosome 7q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27989324 "DO"] synonym: "DEE51" EXACT [] synonym: "early infantile epileptic encephalopathy 51" EXACT [] synonym: "EIEE51" EXACT [] synonym: "MDH2-RELATED CONDITION" EXACT [] xref: MIM:617339 xref: MONDO:0015025 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080434 name: developmental and epileptic encephalopathy 61 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27066583 "DO"] synonym: "DEE61" EXACT [] synonym: "early infantile epileptic encephalopathy 61" EXACT [] synonym: "EIEE61" EXACT [] xref: MIM:617933 xref: MONDO:0033370 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080435 name: developmental and epileptic encephalopathy 37 def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures or abnormal movement in the first years of life and developmental delay or regression after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the FRRS1L gene (604574) on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27236917 "DO"] synonym: "DEE37" EXACT [] synonym: "early infantile epileptic encephalopathy 37" EXACT [] synonym: "EIEE37" EXACT [] xref: MIM:616981 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080436 name: developmental and epileptic encephalopathy 4 alt_id: MIM:612164 def: "A developmental and epileptic encephalopathy characterized by onset of tonic seizures in early infancy and severely impaired psychomotor development that has_material_basis_in heterozygous mutation in the STXBP1 gene on chromosome 9q34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19557857/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/18469812 "DO"] synonym: "DEE4" EXACT [] synonym: "early infantile epileptic encephalopathy 4" EXACT [] synonym: "EIEE4" EXACT [] synonym: "STXBP1-associated neurodevelopmental disorder" BROAD [] xref: MESH:C567404 xref: NCI:C162472 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080437 name: developmental and epileptic encephalopathy 31A def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures and global developmental delay from early infancy that has_material_basis_in heterozygous mutation in the DNM1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25533962/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25262651 "DO"] synonym: "DEE31" EXACT [] synonym: "DEE31A" EXACT [] synonym: "developmental and epileptic encephalopathy 31" EXACT [] synonym: "developmental and epileptic encephalopathy 31A, autosomal dominant" EXACT [] synonym: "early infantile epileptic encephalopathy 31" EXACT [] synonym: "EIEE31" EXACT [] xref: MIM:616346 xref: MONDO:0014598 xref: NCI:C185237 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080438 name: developmental and epileptic encephalopathy 5 def: "A developmental and epileptic encephalopathy characterized by global developmental delay and onset in the first months of life of tonic seizures or infantile spasms that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20493457 "DO"] synonym: "DEE5" EXACT [] synonym: "early infantile epileptic encephalopathy 5" EXACT [] synonym: "EIEE5" EXACT [] xref: MIM:613477 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080439 name: developmental and epileptic encephalopathy 14 def: "A developmental and epileptic encephalopathy characterized by refractory focal seizures developing by 6 months of age and arrest of psychomotor development that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23086397 "DO"] synonym: "DEE14" EXACT [] synonym: "early infantile epileptic encephalopathy 14" EXACT [] synonym: "EIEE14" EXACT [] synonym: "malignant migrating partial seizures of infancy" EXACT [] synonym: "MMPSI" EXACT [] xref: MIM:614959 xref: NCI:C188141 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080440 name: developmental and epileptic encephalopathy 3 alt_id: MIM:609304 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of erratic, typically myoclonic, refractory seizures that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A22 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15592994 "DO"] synonym: "DEE3" EXACT [] synonym: "early infantile epileptic encephalopathy 3" EXACT [] synonym: "EIEE3" EXACT [] synonym: "neonatal myoclonic epilepsy with suppression-burst pattern" EXACT [] xref: MESH:C562695 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:308 ! early myoclonic encephalopathy [Term] id: DOID:0080441 name: developmental and epileptic encephalopathy 49 def: "A developmental and epileptic encephalopathy characterized by neonatal onset of seizures, global developmental delay with intellectual disability and lack of speech, hypotonia, spasticity, and coarse facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DENND5A gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27866705 "DO"] synonym: "DEE49" EXACT [] synonym: "early infantile epileptic encephalopathy 49" EXACT [] synonym: "EIEE49" EXACT [] xref: MIM:617281 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080442 name: developmental and epileptic encephalopathy 41 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, severely impaired psychomotor development, and brain anomalies including delayed myelination, thin corpus callosum, and cerebral atrophy that has_material_basis_in heterozygous mutation in the SLC1A2 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27476654 "DO"] synonym: "DEE41" EXACT [] synonym: "early infantile epileptic encephalopathy 41" EXACT [] synonym: "EIEE41" EXACT [] synonym: "SLC1A2-RELATED CONDITION" EXACT [] xref: MIM:617105 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080443 name: developmental and epileptic encephalopathy 21 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life by intractable seizures and severely impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the NECAP1 gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30525121/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24399846 "DO"] synonym: "DEE21" EXACT [] synonym: "early infantile epileptic encephalopathy 21" EXACT [] synonym: "EIEE21" EXACT [] xref: MIM:615833 xref: MONDO:0014360 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080444 name: developmental and epileptic encephalopathy 27 def: "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24272827 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28377535 "DO"] synonym: "DEE27" EXACT [] synonym: "developmental delay with intractable seizures" RELATED [] synonym: "early infantile epileptic encephalopathy 27" EXACT [] synonym: "EIEE27" EXACT [] synonym: "GRIN2B-RELATED CONDITION" BROAD [] synonym: "GRIN2B-RELATED DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDER" BROAD [] synonym: "GRIN2B-RELATED DISORDER" BROAD [] xref: MIM:616139 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080445 name: developmental and epileptic encephalopathy 13 def: "A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24888894/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22365152 "DO"] synonym: "DEE13" EXACT [] synonym: "early infantile epileptic encephalopathy 13" EXACT [] synonym: "EIEE13" EXACT [] xref: MIM:614558 xref: MONDO:0013801 xref: NCI:C188139 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: rgd creation_date: 2017-10-03T16:31:06Z [Term] id: DOID:0080446 name: developmental and epileptic encephalopathy 66 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of seizures, global developmental delay with hypotonia, behavioral abnormalities, and dysmorphic features or ophthalmologic defects that has_material_basis_in heterozygous mutation in the PACS2 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29656858 "DO"] synonym: "DEE66" EXACT [] synonym: "early infantile epileptic encephalopathy 66" EXACT [] synonym: "EIEE66" EXACT [] synonym: "PACS2-RELATED CONDITION" EXACT [] xref: MIM:618067 xref: NCI:C198576 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080447 name: developmental and epileptic encephalopathy 43 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27476654/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23934111 "DO"] synonym: "DEE43" EXACT [] synonym: "early infantile epileptic encephalopathy 43" EXACT [] synonym: "EIEE43" EXACT [] xref: MIM:617113 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080448 name: developmental and epileptic encephalopathy 48 def: "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27889060 "DO"] synonym: "DEE48" EXACT [] synonym: "early infantile epileptic encephalopathy 48" EXACT [] synonym: "EIEE48" EXACT [] xref: MIM:617276 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080449 name: developmental and epileptic encephalopathy 16 def: "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21087195 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23526554 "DO"] synonym: "DEE16" EXACT [] synonym: "early infantile epileptic encephalopathy 16" EXACT [] synonym: "EIEE16" EXACT [] xref: MIM:615338 xref: ORDO:352596 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080450 name: developmental and epileptic encephalopathy 17 def: "A developmental and epileptic encephalopathy characterized by onset in the first weeks or months of life of intractable seizures and very poor psychomotor development that has_material_basis_in heterozygous mutation in the GNAO1 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23993195 "DO"] synonym: "DEE17" EXACT [] synonym: "early infantile epileptic encephalopathy 17" EXACT [] synonym: "EIEE17" EXACT [] synonym: "GNAO1-RELATED CONDITION" BROAD [] xref: MIM:615473 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080451 name: developmental and epileptic encephalopathy 29 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory myoclonic seizures, poor overall growth, congenital microcephaly with cerebral atrophy and impaired myelination on brain imaging, spasticity with abnormal movements, peripheral neuropathy, and poor visual fixation that has_material_basis_in homozygous or compound heterozygous mutation in the AARS1 gene on chromosome 16q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25817015 "DO"] synonym: "DEE29" EXACT [] synonym: "early infantile epileptic encephalopathy 29" EXACT [] synonym: "EIEE29" EXACT [] xref: MIM:616339 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080452 name: developmental and epileptic encephalopathy 28 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25411445/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24456803 "DO"] synonym: "DEE28" EXACT [] synonym: "early infantile epileptic encephalopathy 28" EXACT [] synonym: "EIEE28" EXACT [] xref: MIM:616211 xref: MONDO:0014533 xref: NCI:C189273 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080453 name: developmental and epileptic encephalopathy 25 def: "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27600704/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24995870 "DO"] synonym: "DEE25" EXACT [] synonym: "developmental and epileptic encephalopathy 25 with amelogenesis imperfecta" EXACT [] synonym: "early infantile epileptic encephalopathy 25" EXACT [] synonym: "early infantile epileptic encephalopathy 25 with amelogenesis imperfecta" EXACT [] synonym: "EIEE25" EXACT [] xref: GARD:12901 xref: MIM:615905 xref: NCI:C168597 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy creation_date: 2015-12-09T11:46:39Z [Term] id: DOID:0080454 name: developmental and epileptic encephalopathy 42 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first hours or days of life and global developmental delay with severely impaired intellectual development that has_material_basis_in heterozygous mutation in the CACNA1A gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27476654 "DO"] synonym: "CACNA1A-RELATED COMPLEX NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "DEE42" EXACT [] synonym: "early infantile epileptic encephalopathy 42" EXACT [] synonym: "EIEE42" EXACT [] xref: MIM:617106 xref: NCI:C188142 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080455 name: developmental and epileptic encephalopathy 52 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures and global neurological development delay, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19710327 "DO"] synonym: "DEE52" EXACT [] synonym: "early infantile epileptic encephalopathy 52" EXACT [] synonym: "EIEE52" EXACT [] xref: MIM:617350 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080456 name: developmental and epileptic encephalopathy 46 def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30280376/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/27616483 "DO"] synonym: "DEE46" EXACT [] synonym: "early infantile epileptic encephalopathy 46" EXACT [] synonym: "EIEE46" EXACT [] synonym: "GRIN2D-RELATED CONDITION" EXACT [] xref: MIM:617162 xref: NCI:C177545 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080457 name: microcephaly, seizures, and developmental delay def: "A developmental and epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20118933 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23224214 "DO"] synonym: "DEE10" EXACT [] synonym: "developmental and epileptic encephalopathy 10" EXACT [] synonym: "early infantile epileptic encephalopathy 10" EXACT [] synonym: "EIEE10" EXACT [] synonym: "MCSZ" EXACT [] xref: MIM:613402 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0080458 name: developmental and epileptic encephalopathy 35 def: "A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26224535 "DO"] synonym: "DEE35" EXACT [] synonym: "early infantile epileptic encephalopathy 35" EXACT [] synonym: "EIEE35" EXACT [] synonym: "ITPA-related encephalopathy" EXACT [] xref: MIM:616647 xref: ORDO:457375 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080459 name: developmental and epileptic encephalopathy 12 def: "A developmental and epileptic encephalopathy characterized by onset of refractory seizures in the first year of life with normal to mild developmental delay before onset of seizures but developmental regression and stagnation after seizure onset that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB1 gene on chromosome 20p12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22690784/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/20833646 "DO"] synonym: "DEE12" EXACT [] synonym: "early infantile epileptic encephalopathy 12" EXACT [] synonym: "EIEE12" EXACT [] xref: MIM:613722 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080460 name: developmental and epileptic encephalopathy 34 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory migrating focal seizures, developmental regression and severe global impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A5 gene on chromosome 20q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26333769 "DO"] synonym: "DEE34" EXACT [] synonym: "early infantile epileptic encephalopathy 34" EXACT [] synonym: "EIEE34" EXACT [] xref: MIM:616645 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080461 name: developmental and epileptic encephalopathy 26 def: "A developmental and epileptic encephalopathy characterized by onset in the first years of life of seizures, developmental delay, intellectual disability, poor speech, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the KCNB1 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25164438 "DO"] synonym: "DEE26" EXACT [] synonym: "early infantile epileptic encephalopathy 26" EXACT [] synonym: "EIEE26" EXACT [] synonym: "epileptic encephalopathy-26" EXACT [] synonym: "KCNB1-related disorder" EXACT [] xref: GARD:12391 xref: MIM:616056 xref: NCI:C175047 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080462 name: developmental and epileptic encephalopathy 7 def: "A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15249611 "DO"] synonym: "continuous spike and waves during slow-wave sleep syndrome" NARROW [] synonym: "DEE7" EXACT [] synonym: "early infantile epileptic encephalopathy 7" EXACT [] synonym: "EIEE7" EXACT [] synonym: "KCNQ2-RELATED CONDITION" BROAD [] synonym: "KCNQ2-related epileptic encephalopathy" EXACT [] synonym: "KCNQ2-related neonatal epileptic encephalopathy" EXACT [] xref: MIM:613720 xref: NCI:C192087 xref: ORDO:439218 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080463 name: developmental and epileptic encephalopathy 33 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of seizures and severe global developmental delay with impaired intellectual development and poor or absent speech that has_material_basis_in heterozygous mutation in the EEF1A2 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO"] synonym: "DEE33" EXACT [] synonym: "early infantile epileptic encephalopathy 33" EXACT [] synonym: "EEF1A2-RELATED DEVELOPMENTAL AND DEGENERATIVE EPILEPTIC-DYSKINETIC ENCEPHALOPATHY" BROAD [] synonym: "EIEE33" EXACT [] xref: MIM:616409 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080464 name: developmental and epileptic encephalopathy 53 def: "A developmental and epileptic encephalopathy characterized by infantile onset of intractable seizures, hypotonia, poor or absent global development, severe intellectual disability and spastic quadriplegia that has_material_basis_in homozygous or compound heterozygous mutation in the SYNJ1 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27435091 "DO"] synonym: "DEE53" EXACT [] synonym: "early infantile epileptic encephalopathy 53" EXACT [] synonym: "EIEE53" EXACT [] xref: MIM:617389 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080465 name: developmental and epileptic encephalopathy 30 def: "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25839329 "DO"] synonym: "DEE30" EXACT [] synonym: "early infantile epileptic encephalopathy 30" EXACT [] synonym: "EIEE30" EXACT [] xref: MIM:616341 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080467 name: developmental and epileptic encephalopathy 2 alt_id: MIM:300672 def: "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15492925 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22872100 "DO"] synonym: "atypical Rett Syndrome, CDKL5-related" EXACT [] synonym: "CDKL5 disorder" EXACT [] synonym: "CDKL5-RELATED CONDITION" EXACT [] synonym: "DEE2" EXACT [] synonym: "early infantile epileptic encephalopathy 2" EXACT [] synonym: "EIEE2" EXACT [] synonym: "ISSX2" EXACT [] synonym: "Rett syndrome, variant, with infantile spasms" EXACT [] synonym: "X-linked dominant infantile spasm syndrome-2" EXACT [] synonym: "X-linked infantile spasm syndrome 2" EXACT [] xref: MESH:C564064 xref: NCI:C147070 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:1206 ! Rett syndrome [Term] id: DOID:0080468 name: developmental and epileptic encephalopathy 1 alt_id: MIM:308350 def: "A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17668384/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/11889467 "DO"] synonym: "DEE1" EXACT [] synonym: "early infantile epileptic encephalopathy 1" EXACT [] synonym: "EIEE1" EXACT [] synonym: "infantile epileptic-dyskinetic encephalopathy" EXACT [] synonym: "ISSX1" EXACT [] synonym: "X-linked infantile spasms" EXACT [] synonym: "X-linked infantile spasm syndrome" EXACT [] synonym: "X-linked infantile spasm syndrome, 1" EXACT [] synonym: "X-linked Ohtahara syndrome" EXACT [] synonym: "X-linked West syndrome" EXACT [] synonym: "XMESID" EXACT [] xref: MESH:C567924 xref: NCI:C179866 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080470 name: developmental and epileptic encephalopathy 36 def: "A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of infantile onset of seizures, delayed psychomotor development and in some patients dysmorphic features that has_material_basis_in heterozygous mutation in the ALG13 gene on chromosome Xq23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23033978 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26138355 "DO"] synonym: "CDG1S" NARROW [] synonym: "CDG Is" NARROW [] synonym: "CDGIs" NARROW [] synonym: "congenital disorder of glycosylation type 1S" NARROW [] synonym: "congenital disorder of glycosylation type Is" NARROW [] synonym: "DEE36" EXACT [] synonym: "early infantile epileptic encephalopathy 36" EXACT [] synonym: "EIEE36" EXACT [] xref: GARD:12401 xref: MIM:300884 xref: NCI:C142803 xref: ORDO:324422 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080471 name: developmental and epileptic encephalopathy 92 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in infancy or early childhood, global developmental delay and variable intellectual disability that has_material_basis_in heterozygous mutation in the GABRB2 gene on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25124326 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"] synonym: "DEE92" EXACT [] synonym: "IECEE2" EXACT [] synonym: "infantile or early childhood epileptic encephalopathy 2" EXACT [] xref: MIM:617829 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080472 name: developmental and epileptic encephalopathy 91 def: "A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28942967 "DO"] synonym: "DEE91" EXACT [] synonym: "IECEE1" EXACT [] synonym: "infantile or early childhood epileptic encephalopathy 1" EXACT [] synonym: "PPP3CA-RELATED CONDITION" BROAD [] xref: MIM:617711 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080473 name: developmental delay and seizures with or without movement abnormalities def: "A syndromic intellectual disability characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component that has_material_basis_in heterozygous mutation in the DHDDS gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29100083 "DO"] synonym: "DEDSM" EXACT [] synonym: "DHDDS-RELATED CONDITION" BROAD [] xref: MIM:617836 is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:1826 ! epilepsy [Term] id: DOID:0080474 name: pustular psoriasis 14 def: "A psoriasis characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein that has_material_basis_in homozygous or compound heterozygous mutation in the IL36RN gene on chromosome 2q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21848462 "DO"] synonym: "acrodermatitis continua of Hallopeau" EXACT [] synonym: "acute generalised pustular psoriasis" EXACT [] synonym: "deficiency of IL-36R antagonist" EXACT [] synonym: "deficiency of the interleukin-36 receptor antagonist" EXACT [] synonym: "DITRA" EXACT [] synonym: "generalized pustular psoriasis" EXACT [] synonym: "generalized pustular psoriasis of von Zumbusch" EXACT [] synonym: "GPP" EXACT [] synonym: "interleukin 36 receptor antagonist deficiency" EXACT [] synonym: "palmoplantar pustulosis" EXACT [] synonym: "PSORP" EXACT [] synonym: "PSORS14" EXACT [] synonym: "von Zumbusch psoriasis" EXACT [] xref: MIM:614204 xref: NCI:C202121 xref: ORDO:404546 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0080475 name: psoriasis 2 def: "A psoriasis that has_material_basis_in heterozygous mutation in the CARD14 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22521418 "DO"] synonym: "PAPULOSQUAMOUS ERUPTIONS" NARROW [] synonym: "Psoriasis Susceptibility 2" EXACT [] synonym: "PSORS2" EXACT [] xref: MIM:602723 xref: MONDO:0011269 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0080476 name: peroxisome biogenesis disorder 1A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "CG1" EXACT [] synonym: "CGE" EXACT [] synonym: "PBD1A" EXACT [] synonym: "peroxisome biogenesis disorder 1A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 1" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group E" EXACT [] xref: MIM:214100 xref: NCI:C155748 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080477 name: peroxisome biogenesis disorder 2A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "CG2" NARROW [] synonym: "PBD2A" EXACT [] synonym: "peroxisome biogenesis disorder 2A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 2" NARROW [] xref: MIM:214110 xref: NCI:C155750 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080478 name: peroxisome biogenesis disorder 3A alt_id: MIM:614859 def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "CG3" NARROW [] synonym: "PBD3A" EXACT [] synonym: "PDB3A" NARROW [] synonym: "peroxisome biogenesis disorder 3A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 3" NARROW [] xref: MESH:C566633 xref: NCI:C155752 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080479 name: peroxisome biogenesis disorder 4A alt_id: MIM:614862 def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "CG4" NARROW [] synonym: "CG6" NARROW [] synonym: "CGC" NARROW [] synonym: "PBD4A" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 4" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 6" NARROW [] synonym: "peroxisome biogenesis disorder, complementation group C" NARROW [] xref: MESH:C563301 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080480 name: peroxisome biogenesis disorder 5A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "CG5" BROAD [] synonym: "CGF" BROAD [] synonym: "PBD5A" EXACT [] synonym: "Peroxisome Biogenesis Disorder 5A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 5" BROAD [] synonym: "peroxisome biogenesis disorder, complementation group F" BROAD [] synonym: "PEX2-RELATED CONDITION" BROAD [] xref: MIM:614866 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080481 name: peroxisome biogenesis disorder 6A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX10 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "PBD6A" EXACT [] synonym: "Peroxisome Biogenesis Disorder 6A (Zellweger)" EXACT [] xref: MIM:614870 xref: MONDO:0013936 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080482 name: peroxisome biogenesis disorder 7A def: "A Zellweger syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "CG8" NARROW [] synonym: "CGA" NARROW [] synonym: "PBD7A" EXACT [] synonym: "Peroxisome Biogenesis Disorder 7A (Zellweger)" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 8" NARROW [] synonym: "peroxisome biogenesis disorder, complementation group A" NARROW [] xref: MIM:614872 xref: NCI:C155760 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080483 name: peroxisome biogenesis disorder 8A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "PBD8A" EXACT [] synonym: "peroxisome biogenesis disorder 8A (Zellweger)" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER DUE TO PEX16 DEFECT" BROAD [] xref: MIM:614876 xref: NCI:C155762 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080484 name: peroxisome biogenesis disorder 10A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "PBD10A" EXACT [] synonym: "peroxisome biogenesis disorder 10A (Zellweger)" EXACT [] synonym: "PEX3-RELATED CONDITION" BROAD [] xref: MIM:614882 xref: MONDO:0013948 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080485 name: peroxisome biogenesis disorder 11A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "PBD11A" EXACT [] synonym: "peroxisome biogenesis disorder 11A (Zellweger)" EXACT [] xref: MIM:614883 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080486 name: peroxisome biogenesis disorder 12A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "PBD12A" EXACT [] synonym: "peroxisome biogenesis disorder 12A (Zellweger)" EXACT [] xref: MIM:614886 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080487 name: peroxisome biogenesis disorder 13A def: "A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX14 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055079 "DO"] synonym: "PBD13A" EXACT [] synonym: "peroxisome biogenesis disorder 13A (Zellweger)" EXACT [] xref: MIM:614887 is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:0080488 name: mucolipidosis def: "A lipid storage disease that is characterized by increased storage of carbohydrates and lipids. (DO)" [https://en.wikipedia.org/wiki/Mucolipidosis "DO"] synonym: "mucolipidoses" EXACT [] xref: MESH:D009081 xref: MIM:PS256550 is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:0080489 name: GM1 gangliosidosis type 3 def: "A GM1 gangliosidosis that is characterized by neurodegeneration and mild skeletal changes and with age at onset ranges from 3 to 30 years. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/404231 "DO"] synonym: "adult GM1 gangliosidosis" EXACT [] synonym: "adult-onset GM1 gangliosidosis" EXACT [] synonym: "Gangliosidosis, Generalized GM1, Adult Type" EXACT [] synonym: "Gangliosidosis, Generalized GM1, Chronic Type" EXACT [] synonym: "Gangliosidosis, Generalized GM1, Type 3" EXACT [] synonym: "Gangliosidosis, Generalized GM1, Type III" EXACT [] synonym: "GM1G3" EXACT [] synonym: "GM1-gangliosidoses type III" EXACT [] synonym: "GM1-gangliosidosis type III" EXACT [] synonym: "Type 3 (Adult) GM1 Gangliosidosis" EXACT [] xref: GARD:2431 xref: MIM:230650 xref: MONDO:0009262 xref: ORDO:79257 is_a: DOID:3322 ! GM1 gangliosidosis [Term] id: DOID:0080490 name: mucolipidosis type IV def: "A mucolipidosis that is characterized by delayed development and vision impairment that worsens over time. (DO)" [https://en.wikipedia.org/wiki/Mucolipidosis_type_IV "DO", https://ghr.nlm.nih.gov/condition/mucolipidosis-type-iv "DO"] synonym: "ML4" EXACT [] synonym: "ML IV" EXACT [] synonym: "Mucolipidosis IV" EXACT [] synonym: "mucolipidosis type 4" EXACT [] synonym: "type IV mucolipidoses" EXACT [] xref: GARD:94 xref: MIM:252650 xref: NCI:C84896 xref: ORDO:578 is_a: DOID:0080488 ! mucolipidosis [Term] id: DOID:0080491 name: cerebral cavernous malformation 1 def: "A cerebral cavernous malformation that has_material_basis_in heterozygous mutation in the KRIT1 gene on chromosome 7q21. (DO)" [https://www.omim.org/entry/116860?search=116860&highlight=116860 "DO"] synonym: "CCM1" EXACT [] synonym: "cerebral cavernous malformations 1" EXACT [] synonym: "KRIT1-RELATED DISORDERS" EXACT [] xref: MIM:116860 is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation [Term] id: DOID:0080492 name: leukocyte adhesion deficiency 2 def: "A leukocyte adhesion deficiency that is characterized by the absence of Sialyl Lewis X of E-selectin resulting in recurrent bacterial infections, severe growth delay and severe intellectual deficit. (DO)" [https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK539770/ "DO"] comment: Note: FEB 2019: per https://github.com/DiseaseOntology/HumanDiseaseOntology/issues/648 DOID:0080492 (leukocyte adhesion deficiency 2) and DOID:0070255 (congenital disorder of glycosylation type IIc) are two different diseases. synonym: "LAD2" EXACT [] is_a: DOID:6612 ! leukocyte adhesion deficiency [Term] id: DOID:0080493 name: ovarian dysgenesis 1 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding follicle-stimulating hormone receptor on chromosome 2p16. (DO)" [https://www.omim.org/entry/233300 "DO"] synonym: "hypergonadotropic ovarian failure" EXACT [] synonym: "ODG1" EXACT [] synonym: "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, AUTOSOMAL RECESSIVE" EXACT [] synonym: "OVARIAN DYSGENESIS, HYPERGONADOTROPIC, WITH NORMAL KARYOTYPE" EXACT [] synonym: "Ovarian Dysgenesis I" EXACT [] xref: MIM:233300 xref: MONDO:0024463 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080494 name: ovarian dysgenesis 2 alt_id: MIM:300510 def: "A 46 XX gonadal dysgenesis that has_material_basis_in mutation in the BMP15 gene on chromosome Xp11. (DO)" [https://www.omim.org/entry/300510 "DO"] synonym: "hypergonadotropic ovarian dysgenesis, X-linked" EXACT [] synonym: "hypergonadotropic ovarian failure due to ovarian dysgenesis" EXACT [] synonym: "ODG2" EXACT [] synonym: "POF4" NARROW [] synonym: "premature ovarian failure 4" NARROW [] xref: MESH:C564499 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080495 name: ovarian dysgenesis 3 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the PSMC3IP gene on chromosome 17q12-q21. (DO)" [https://www.omim.org/entry/614324 "DO"] synonym: "ODG3" EXACT [] xref: MIM:614324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080496 name: ovarian dysgenesis 4 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MCM9 gene on chromosome 6q22. (DO)" [https://www.omim.org/entry/616185 "DO"] synonym: "ODG4" EXACT [] xref: MIM:616185 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080497 name: ovarian dysgenesis 5 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the SOHLH1 gene on chromosome 9q34. (DO)" [https://www.omim.org/entry/617690 "DO"] synonym: "ODG5" EXACT [] xref: MIM:617690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080498 name: ovarian dysgenesis 6 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the NUP107 gene on chromosome 12q15. (DO)" [https://www.omim.org/entry/618078 "DO"] synonym: "ODG6" EXACT [] xref: MIM:618078 xref: MONDO:0054850 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: slaulede creation_date: 2018-09-13T00:00:00Z [Term] id: DOID:0080499 name: ovarian dysgenesis 7 def: "A 46 XX gonadal dysgenesis that has_material_basis_in homozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)" [https://www.omim.org/entry/618117 "DO"] synonym: "ODG7" EXACT [] xref: MIM:618117 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0080500 name: ovarian dysgenesis 8 def: "A 46 XX gonadal dysgenesis that has_material_basis_in heterozygous mutation in the ESR2 gene on chromosome 14q23. (DO)" [https://www.omim.org/entry/618187 "DO"] synonym: "ODG8" EXACT [] xref: MIM:618187 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: slaulede creation_date: 2019-01-16T00:00:00Z [Term] id: DOID:0080501 name: GM1 gangliosidosis type 2 alt_id: MIM:230600 def: "A GM1 gangliosidosis that is characterized by slowly progressive generalized neurodegeneration and mild skeletal changes, with onset between 7 months and 3 years of age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12644936 "DO"] synonym: "generalized GM1 gangliosidosis, juvenile type" EXACT [] synonym: "generalized GM1 gangliosidosis, late-infantile type" EXACT [] synonym: "generalized GM1 gangliosidosis, type 2" EXACT [] synonym: "generalized GM1 gangliosidosis, type II" EXACT [] synonym: "GM1G2" EXACT [] synonym: "GM1-gangliosidoses, type II" EXACT [] synonym: "GM1-gangliosidosis, type II" EXACT [] synonym: "juvenile GM1 gangliosidosis" EXACT [] xref: MESH:C566893 is_a: DOID:3322 ! GM1 gangliosidosis [Term] id: DOID:0080502 name: GM1 gangliosidosis type 1 alt_id: MIM:230500 def: "A GM1 gangliosidosis that is characterized by rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK164500/ "DO"] synonym: "generalized GM1 gangliosidosis, infantile form" EXACT [] synonym: "generalized GM1 gangliosidosis, type 1" EXACT [] synonym: "generalized GM1 gangliosidosis, type I" EXACT [] synonym: "generalized GM1 gangliosidosis, type I, with cardiac involvement" NARROW [] synonym: "GLB1 DEFICIENCY GM1-GANGLIOSIDOSIS, TYPE I, WITH CARDIAC INVOLVEMENT" NARROW [] synonym: "GM1G1" EXACT [] synonym: "GM1-gangliosidoses type I" EXACT [] synonym: "GM1-gangliosidosis type I" EXACT [] synonym: "Gm1 Gangliosidosis, Type I, with Cardiac Involvement" RELATED [] synonym: "Infantile Gangliosidosis GM1" EXACT [] xref: GARD:6479 xref: MESH:C566895 xref: ORDO:79255 is_a: DOID:114 ! heart disease is_a: DOID:3322 ! GM1 gangliosidosis [Term] id: DOID:0080503 name: multiple congenital anomalies-hypotonia-seizures syndrome def: "A lipid metabolism disorder that is characterized by severe global developmental delay, hypotonia, and early-onset seizures, associated with multiple cardiac, genitourinary, and gastrointestinal congenital anomalies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29974678 "DO"] xref: GARD:12781 xref: MIM:PS614080 xref: ORDO:280633 is_a: DOID:0080015 ! physical disorder is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080504 name: Parkinson's disease 22 def: "A late onset Parkinson's disease that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the coiled-coil-helix-coiled-coil-helix domain containing 2 gene on chromosome 7p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30496485 "DO", https://www.omim.org/entry/616710 "DO"] synonym: "autosomal dominant Parkinson's disease 22" EXACT [] synonym: "PARK22" EXACT [] synonym: "Parkinson disease 22, autosomal dominant" EXACT [] xref: MIM:616710 xref: MONDO:0014742 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0080505 name: Cornelia de Lange syndrome 1 def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20583156 "DO"] synonym: "CDLS1" EXACT [] synonym: "NIPBL-RELATED CONDITION" EXACT [] xref: MIM:122470 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080506 name: Cornelia de Lange syndrome 2 def: "A Cornelia de Lange syndrome that has_material_basis_in a mutation in the SMC1A gene, which encodes a subunit of the cohesin complex, on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22106055 "DO"] synonym: "CDLS2" EXACT [] synonym: "CONGENITAL MUSCULAR HYPERTROPHY-CEREBRAL SYNDROME" RELATED [] synonym: "Cornelia de Lange syndrome, X-linked" BROAD [] synonym: "SMC1A-RELATED COHESINOPATHY" BROAD [] synonym: "X-linked CDLS" BROAD [] xref: MIM:300590 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080507 name: Cornelia de Lange syndrome 3 def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the SMC3 gene on chromosome 10q25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25655089 "DO"] synonym: "CDLS3" EXACT [] synonym: "Cornelia De Lange syndrome 3 with or without midline brain defects" EXACT [] xref: MIM:610759 xref: MONDO:0012555 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080508 name: Cornelia de Lange syndrome 4 def: "A Cornelia de Lange syndrome that has_material_basis_in heterozygous mutation in the RAD21 gene, which encodes a component of the cohesin complex, on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22633399 "DO"] synonym: "CDLS4" EXACT [] synonym: "Cornelia de Lange syndrome 4 with or without midline brain defects" EXACT [] synonym: "RAD21-RELATED CONDITION" BROAD [] xref: MIM:614701 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080509 name: Cornelia de Lange syndrome 5 def: "A Cornelia de Lange syndrome that has_material_basis_in by mutation in the HDAC8 gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22889856 "DO"] synonym: "CDLS5" EXACT [] synonym: "HDAC8-RELATED CONDITION" EXACT [] xref: MIM:300882 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:0080510 name: epidermolysis bullosa simplex localized type def: "An epidermolysis bullosa simplex that is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. (DO)" [https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources "DO"] synonym: "Acral Form EBS" EXACT [] synonym: "Epidermolysis Bullosa of Hands and Feet" EXACT [] synonym: "epidermolysis bullosa simplex Weber-Cockayne type" EXACT [] synonym: "localized epidermolysis bullosa simplex" EXACT [] synonym: "Weber Cockayne Syndrome" EXACT [] is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0080511 name: epidermolysis bullosa simplex generalized type def: "An epidermolysis bullosa simplex that is characterized by widespread blisters that appear at birth or in early infancy. (DO)" [https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#resources "DO"] synonym: "epidermolysis bullosa simplex Koebner type" EXACT [] synonym: "Generalized EBS" EXACT [] synonym: "generalized epidermolysis bullosa simplex" EXACT [] synonym: "generalized epidermolysis bullosa simplex with severe palmoplantar keratosis" EXACT [] is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0080512 name: Meier-Gorlin syndrome 1 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32. (DO)" [https://www.omim.org/entry/224690 "DO"] synonym: "MGORS1" EXACT [] synonym: "ORC1-RELATED CONDITION" EXACT [] xref: MIM:224690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080513 name: Meier-Gorlin syndrome 2 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC4 gene on chromosome 2q23. (DO)" [https://www.omim.org/entry/613800 "DO"] synonym: "MGORS2" EXACT [] xref: MIM:613800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080514 name: Meier-Gorlin syndrome 3 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC6 gene on chromosome 16q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37059840/ "DO"] synonym: "MGORS3" EXACT [] xref: MIM:613803 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080515 name: Meier-Gorlin syndrome 4 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDT1 gene on chromosome 16q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21358631/ "DO"] synonym: "MGORS4" EXACT [] xref: MIM:613804 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080516 name: Meier-Gorlin syndrome 5 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous mutation in the CDC6 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11477602/ "DO"] synonym: "MGORS5" EXACT [] xref: MIM:613805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080517 name: Meier-Gorlin syndrome 6 def: "A Meier-Gorlin syndrome that has_material_basis_in heterozygous mutation in the GMNN gene on chromosome 6p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26637980/ "DO"] synonym: "MGORS6" EXACT [] xref: MIM:616835 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080518 name: Meier-Gorlin syndrome 7 def: "A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CDC45 gene on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27374770/ "DO"] synonym: "MGORS7" EXACT [] xref: MIM:617063 xref: MONDO:0014894 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060306 ! Meier-Gorlin syndrome [Term] id: DOID:0080519 name: PAPA syndrome def: "A syndrome that is characterized by pyoderma gangrenosum, pyogenic arthritis, acne and suppurative hidradenitis and heterozygous mutation in the PSTPIP1 gene on chromosome 15q24. (DO)" [https://en.wikipedia.org/wiki/PAPA_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/28236224 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28251506 "DO", https://www.nomidalliance.org/papa.php "DO"] synonym: "familial recurrent arthritis" EXACT [] synonym: "FRA" EXACT [] synonym: "PAPAS" EXACT [] synonym: "pyogenic arthritis, pyoderma gangrenosum, and acne" EXACT [] synonym: "pyogenic arthritis, pyoderma gangrenosum, and severe cystic acne" EXACT [] synonym: "pyogenic sterile arthritis, pyoderma gangrenosum, and acne" EXACT [] xref: MESH:C536253 xref: MIM:604416 xref: MONDO:0011462 xref: ORDO:69126 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:6543 ! acne is_a: DOID:813 ! septic arthritis is_a: DOID:8553 ! pyoderma gangrenosum [Term] id: DOID:0080520 name: Tn polyagglutination syndrome alt_id: DOID:9000181 alt_id: MIM:300622 def: "A hematopoietic system disease that is characterized by red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns and has_material_basis_in somatic mutation in the C1GALT1C1 gene on chromosome Xq24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16251947 "DO"] synonym: "Galactosyltransferase Deficiency" EXACT [] synonym: "TNPS" EXACT [] synonym: "Tn Syndrome" EXACT [] xref: MESH:C562719 is_a: DOID:225 ! syndrome is_a: DOID:74 ! hematopoietic system disease is_a: DOID:9005170 ! polyagglutination [Term] id: DOID:0080521 name: lung non-squamous non-small cell carcinoma def: "A lung non-small cell carcinoma that is characterized by the lack of evidence of squamous differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30362335 "DO"] synonym: "non- squamous NSCLC" EXACT [] xref: NCI:C135017 is_a: DOID:3908 ! lung non-small cell carcinoma [Term] id: DOID:0080522 name: anaplastic thyroid carcinoma def: "A thyroid gland carcinoma that is composed of undifferentiated cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28707679 "DO"] synonym: "anaplastic thyroid cancer" EXACT [] synonym: "anaplastic thyroid cancers" EXACT [] synonym: "anaplastic thyroid carcinomas" EXACT [] synonym: "EFO:1000595" EXACT [] synonym: "thyroid gland anaplastic carcinoma" EXACT [] synonym: "thyroid gland undifferentiated (anaplastic) carcinoma" EXACT [] xref: EFO:1000595 xref: MESH:D065646 xref: MONDO:0006468 xref: NCI:C3878 xref: NCI:C664 is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0080523 name: adult-onset leukoencephalopathy with axonal spheroids and pigmented glia alt_id: MIM:221820 def: "A leukodystrophy that is characterized by progressive dementia, apraxia, apathy, impaired balance, parkinsonism, spasticity and epilepsy and has_material_basis_in heterozygous mutation in the CSF1R gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27680516 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28921817 "DO"] synonym: "adult-onset leukodystrophy with neuroaxonal spheroids" EXACT [] synonym: "ALSP" EXACT [] synonym: "autosomal dominant leukoencephalopathy with neuroaxonal spheroids" EXACT [] synonym: "CSF1R-RELATED ADULT-ONSET LEUKOENCEPHALOPATHY" BROAD [] synonym: "CSF1R-RELATED CONDITION" BROAD [] synonym: "familial dementia, Neumann type" EXACT [] synonym: "familial progressive subcortical gliosis" EXACT [] synonym: "GLIOSIS, FAMILIAL PROGRESSIVE SUBCORTICAL" EXACT [] synonym: "GPSC" EXACT [] synonym: "HDLS" EXACT [] synonym: "HDLS1" EXACT [] synonym: "hereditary diffuse leukoencephalopathy with axonal spheroids" EXACT [] synonym: "hereditary diffuse leukoencephalopathy with spheroids" EXACT [] synonym: "hereditary diffuse leukoencephalopathy with spheroids 1" EXACT [] synonym: "LEUKOENCEPHALOPATHY, ADULT-ONSET, WITH AXONAL SPHEROIDS AND PIGMENTED GLIA" EXACT [] synonym: "Leukoencephalopathy, diffuse hereditary, with spheroids 1" EXACT [] synonym: "LEUKOENCEPHALOPATHY, HEREDITARY DIFFUSE, WITH SPHEROIDS 1" EXACT [] synonym: "neuroaxonal leukodystrophy" EXACT [] synonym: "subcortical gliosis of Neumann" EXACT [] xref: GARD:10981 xref: MESH:C580150 xref: NCI:C153289 xref: ORDO:313808 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0080524 name: thyroid gland adenocarcinoma def: "A thyroid gland carcinoma that derives_from epithelial cells of glandular origin. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27380 "DO"] xref: NCI:C27380 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3963 ! thyroid gland carcinoma [Term] id: DOID:0080525 name: differentiated high-grade thyroid carcinoma def: "A thyroid gland adenocarcinoma characterized by extensive evidence of follicular cell differentiation. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C7153&ns=ncit "DO"] synonym: "differentiated thyroid gland carcinoma" EXACT [] synonym: "EFO:1002017" EXACT [] xref: EFO:1002017 xref: NCI:C7153 is_a: DOID:0080524 ! thyroid gland adenocarcinoma [Term] id: DOID:0080526 name: bronchiectasis 1 alt_id: MIM:211400 def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the beta subunit of the epithelial sodium channel on chromosome 16p12. (DO)" [https://www.omim.org/entry/211400 "DO"] synonym: "BESC1" EXACT [] synonym: "bronchiectasis with or without elevated sweat chloride 1" EXACT [] synonym: "BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 1, MODIFIER OF" RELATED [] synonym: "HYPERTRYPSINEMIA, NEONATAL, SUSCEPTIBILITY TO" RELATED [] xref: MESH:C567618 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9563 ! bronchiectasis [Term] id: DOID:0080527 name: bronchiectasis 2 alt_id: MIM:613021 def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the alpha subunit of the epithelial sodium channel. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19462466/ "DO"] synonym: "BESC2" EXACT [] synonym: "Bronchiectasis with or without Elevated Sweat Chloride 2" EXACT [] synonym: "IDIOPATHIC BRONCHIECTASIS" EXACT [] xref: MESH:C567813 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9563 ! bronchiectasis [Term] id: DOID:0080528 name: bronchiectasis 3 alt_id: MIM:613071 def: "A bronchiectasis that has_material_basis_in mutation in the gene encoding the gamma subunit of the epithelial sodium channel. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18507830/ "DO"] synonym: "BESC3" EXACT [] synonym: "bronchiectasis with or without elevated sweat chloride 3" EXACT [] xref: MESH:C567772 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9563 ! bronchiectasis [Term] id: DOID:0080530 name: granular corneal dystrophy 1 alt_id: MIM:121900 def: "A granular corneal dystrophy that is characterized by recurrent erosions and gray crumb-like opacification located_in the cornea, proteinaceous rock candy-like deposits in the anterior stroma and subepithelium, and progressive vision loss later in life as deposits move into the central vision, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased protein deposition and disruption of the corneal surface. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8136834/ "DO"] synonym: "CDGG1" EXACT [] synonym: "corneal dystrophy granular type" EXACT [] synonym: "Corneal dystrophy punctate or nodular" EXACT [] synonym: "GCD1" EXACT [] synonym: "Granular Corneal Dystrophy, Type I" EXACT [] synonym: "Groenouw type I corneal dystrophy" EXACT [] xref: MESH:C537304 is_a: DOID:12318 ! granular corneal dystrophy [Term] id: DOID:0080531 name: dedifferentiated liposarcoma def: "A liposarcoma that is characterized as a high-grade tumor that occurs when a lower-grade tumor changes and creates new high-grade cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6211889/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26645460 "DO"] synonym: "dedifferentiated liposarcomas" EXACT [] synonym: "EFO:0003085" EXACT [] xref: EFO:0003085 xref: ICDO:8858/3 xref: NCI:C3704 xref: ORDO:99970 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:0080532 name: Smarca4-deficient sarcoma of thorax def: "A thoracic cancer that is characterized by poorly differentiated neoplasms with epithelioid/rhabdoid cells organized in a solid pattern and has_material_basis_in alterations in the switch/sucrose nonfermenting complex, also known in humans as BRG1-associated factors (BAF chromatin remodeling complex). (DO)" [https://ghr.nlm.nih.gov/gene/SMARCA4#conditions "DO", https://www.nature.com/articles/modpathol201761.pdf?origin=ppub "DO", https://www.ncbi.nlm.nih.gov/pubmed/26343384 "DO"] synonym: "SMARCA4-DTS" EXACT [] xref: ORDO:466962 is_a: DOID:3672 ! rhabdoid cancer is_a: DOID:5093 ! thoracic cancer [Term] id: DOID:0080533 name: Carney-Stratakis syndrome alt_id: MIM:606864 def: "A syndrome that is characterized by the presence of multicentric paragangliomas and multifocal gastrointestinal stromal sarcoma tumors. (DO)" [https://rarediseases.info.nih.gov/diseases/10643/index "DO", https://www.ncbi.nlm.nih.gov/pubmed/31174229 "DO"] synonym: "GIST" EXACT [] synonym: "paraganglioma and gastric stromal sarcoma" EXACT [] synonym: "paraganglioma and gastrointestinal stromal tumor" EXACT [] xref: GARD:10643 xref: MESH:C564650 xref: ORDO:97286 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050773 ! paraganglioma is_a: DOID:225 ! syndrome is_a: DOID:9253 ! gastrointestinal stromal tumor [Term] id: DOID:0080534 name: myxofibrosarcoma def: "A sarcoma that arises from the soft tissue and is characterized by the presence of spindle-shaped cells, cellular pleomorphism, thin-walled blood vessels, fibrous septa, and myxoid stroma. (DO)" [https://www.mayoclinic.org/diseases-conditions/myxofibrosarcoma/cdc-20387740 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27591498 "DO"] synonym: "fibromyxoid sarcoma" EXACT [] synonym: "LOW GRADE FIBROMYXOID SARCOMA" NARROW [] xref: EFO:1000328 xref: ICDO:8811/3 xref: NCI:C6496 xref: ORDO:79105 is_a: DOID:1115 ! sarcoma [Term] id: DOID:0080535 name: hypermanganesemia with dystonia def: "A metal metabolism disorder that is characterized by involuntary, sustained muscle contractions (dystonia) and other uncontrolled movements resulting from excessive accumulation of manganese. (DO)" [https://ghr.nlm.nih.gov/condition/hypermanganesemia-with-dystonia#resources "DO"] xref: MIM:PS613280 is_a: DOID:543 ! dystonia is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0080536 name: hypermanganesemia with dystonia 1 alt_id: DOID:9003227 alt_id: MESH:C548016 def: "A hypermanganesemia with dystonia that is characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction and has_material_basis_in homozygous mutation in the SLC30A10 gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22341972 "DO"] synonym: "dystonia-parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease" EXACT [] synonym: "Hepatic Cirrhosis, Dystonia, Polycythaemia, and Hypermanganesaemia" EXACT [] synonym: "Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia" EXACT [] synonym: "HMDPC" EXACT [] synonym: "HMNDYT1" EXACT [] synonym: "Hypermanganesemia with Dystonia, Polycythemia and Cirrhosis" EXACT [] synonym: "parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease" EXACT [] xref: MIM:613280 is_a: DOID:0080535 ! hypermanganesemia with dystonia is_a: DOID:5082 ! liver cirrhosis is_a: DOID:8432 ! polycythemia [Term] id: DOID:0080537 name: hypermanganesemia with dystonia 2 def: "A hypermanganesemia with dystonia that is characterized predominantly by loss of motor milestones in the first years of life and has_material_basis_in homozygous mutation in the SLC39A14 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27231142 "DO"] synonym: "HMNDYT2" EXACT [] synonym: "SLC39A14-RELATED CONDITION" BROAD [] xref: MIM:617013 xref: MONDO:0014864 is_a: DOID:0080535 ! hypermanganesemia with dystonia [Term] id: DOID:0080538 name: Sweeney-Cox syndrome def: "A syndrome that is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears and has_material_basis_in heterozygous mutation in the TWIST1 gene on chromosome 7p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28369379 "DO"] synonym: "SWCOS" EXACT [] xref: MIM:617746 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080539 name: PEHO syndrome alt_id: MIM:260565 def: "A brain disease that is characterized by extreme cerebellar atrophy due to almost total granule neuron loss. (DO)" [https://en.wikipedia.org/wiki/PEHO_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/28335020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30385166 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31048081 "DO"] synonym: "infantile cerebellooptic atrophy" EXACT [] synonym: "PEHO" EXACT [] synonym: "PEHO-Like Syndrome" EXACT [] synonym: "progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy" EXACT [] xref: GARD:4264 xref: MESH:C536317 xref: ORDO:2836 is_a: DOID:0050562 ! West syndrome is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:4724 ! brain edema is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0080540 name: galactosialidosis alt_id: MIM:256540 def: "A lysosomal storage disease that is characterized by combined deficiency of beta-galactosidase and neuraminidase that has_material_basis_in homozygous or compound heterozygous mutation in the CTSA gene on chromosome 20q13. (DO)" [https://ghr.nlm.nih.gov/condition/galactosialidosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/28603679 "DO"] synonym: "cathepsin A deficiency" EXACT [] synonym: "COMBINED DEFICIENCY OF SIALIDASE AND BETA GALACTOSIDASE" EXACT [] synonym: "deficiency of cathepsin A" EXACT [] synonym: "Galactosialidosis, Adult" NARROW [] synonym: "Galactosialidosis, early Infantile" NARROW [] synonym: "Galactosialidosis, Late Infantile" NARROW [] synonym: "Goldberg syndrome" EXACT [] synonym: "GSL" EXACT [] synonym: "Lysosomal Protective Protein Deficiency" EXACT [] synonym: "Lysosomal protective protein, deficiency of" EXACT [] synonym: "NEURAMINIDASE/BETA-GALACTOSIDASE EXPRESSION" EXACT [] synonym: "neuraminidase deficiency with beta-galactosidase deficiency" EXACT [] synonym: "NGBE" EXACT [] synonym: "PPCA deficiency" EXACT [] synonym: "protective protein-cathepsin A deficiency" EXACT [] xref: GARD:3953 xref: MESH:C536411 xref: NCI:C129928 xref: ORDO:351 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:0080541 name: hyperprolinemia def: "An amno acid metabolic disorder that is characterized by the excess of proline in the blood. (DO)" [https://en.wikipedia.org/wiki/Hyperprolinemia "DO", https://ghr.nlm.nih.gov/condition/hyperprolinemia "DO"] synonym: "hyperprolinemias" EXACT [] synonym: "prolinemia" EXACT [] synonym: "prolinuria" EXACT [] synonym: "pyrroline carboxylate dehydrogenase deficiency" EXACT [] xref: GARD:2847 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0080542 name: hyperprolinemia type 1 def: "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11. (DO)" [https://ghr.nlm.nih.gov/condition/hyperprolinemia "DO"] synonym: "HPI" EXACT [] synonym: "Hyperprolinemia Type I" EXACT [] synonym: "HYRPRO1" EXACT [] synonym: "proline dehydrogenase deficiency" EXACT [] synonym: "proline hydrogenase deficiency" EXACT [] synonym: "proline oxidase deficiency" EXACT [] synonym: "pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [] xref: MIM:239500 xref: ORDO:419 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080541 ! hyperprolinemia [Term] id: DOID:0080543 name: hyperprolinemia type 2 alt_id: MIM:239510 def: "A hyperprolinemia that has_material_basis_in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36. (DO)" [https://ghr.nlm.nih.gov/condition/hyperprolinemia "DO"] synonym: "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [] synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [] synonym: "deficiency of pyrroline-5-carboxylate reductase" EXACT [] synonym: "HPII" EXACT [] synonym: "hyperprolinemia type II" EXACT [] synonym: "HYRPRO2" EXACT [] synonym: "pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [] xref: MESH:C538385 xref: ORDO:79101 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080541 ! hyperprolinemia [Term] id: DOID:0080544 name: hyper IgM syndrome def: "A hyperimmunoglobin syndrome that is characterized by an immune system that fails to produce normal levels of the antibodies IgA, IgG and IgE but can produce normal or elevated levels of IgM. (DO)" [https://rarediseases.org/rare-diseases/hyper-igm-syndrome/ "DO", https://www.niaid.nih.gov/diseases-conditions/types-pidds "DO"] synonym: "HIGM" EXACT [] synonym: "hyper-IgM immunodeficiency syndrome" EXACT [] synonym: "hyper-IgM immunodeficiency syndromes" EXACT [] synonym: "hyper-IgM syndromes" EXACT [] synonym: "immunodeficiency with hyper-IgM" EXACT [] synonym: "immunodeficiency with hyper-IgM syndrome" EXACT [] xref: ICD10CM:D80.5 xref: MESH:D053306 xref: MIM:PS308230 xref: NCI:C84783 is_a: DOID:2959 ! hyperimmunoglobulin syndrome [Term] id: DOID:0080545 name: hyper IgE syndrome def: "A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hyper-ige-syndrome#synonyms "DO"] synonym: "autosomal recessive HIES" NARROW [] synonym: "HIE Syndrome" EXACT [] synonym: "HIE syndromes" EXACT [] synonym: "Hyper IgE Recurrent Infection Syndrome, Autosomal Recessive" NARROW [] synonym: "Hyper IgE Syndrome, Autosomal Recessive" NARROW [] synonym: "Hyper-IgE Syndromes" EXACT [] synonym: "Hyperimmunoglobulinemia E Syndrome" EXACT [] synonym: "Hyperimmunoglobulinemia E Syndromes" EXACT [] synonym: "hyperimmunoglobulin E recurrent infection syndrome" EXACT [] synonym: "hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive" NARROW [] synonym: "hyper immunoglobulin E syndrome" EXACT [] synonym: "hyperimmunoglobulin E syndrome" EXACT [] synonym: "hyper immunoglobulin E syndrome, autosomal recessive" NARROW [] xref: GARD:10956 xref: MESH:D007589 xref: MIM:PS147060 xref: NCI:C3144 is_a: DOID:2959 ! hyperimmunoglobulin syndrome is_a: DOID:3262 ! phagocyte bactericidal dysfunction [Term] id: DOID:0080546 name: non-alcoholic fatty liver def: "A metabolic dysfunction-associated steatotic liver disease characterized by the absence of inflammation and hepatocyte injury in the form of hepatocyte ballooning. (DO)" [https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/ "DO"] synonym: "NAFL" EXACT [] synonym: "nonalcoholic fatty liver" EXACT [] xref: EFO:0003095 xref: EFO:1001248 is_a: DOID:0080208 ! metabolic dysfunction-associated steatotic liver disease [Term] id: DOID:0080547 name: metabolic dysfunction-associated steatohepatitis def: "A metabolic dysfunction-associated steatotic liver disease characterized by the presence of inflammation with hepatocyte injury such as ballooning, with or without fibrosis. (DO)" [https://en.wikipedia.org/wiki/Non-alcoholic_fatty_liver_disease "DO", https://pubmed.ncbi.nlm.nih.gov/37364816/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4881593/ "DO", https://www.niddk.nih.gov/health-information/liver-disease/nafld-nash "DO"] synonym: "MASH" EXACT [] synonym: "NASH" EXACT [] synonym: "nonalcoholic steatohepatitides" EXACT [] synonym: "non-alcoholic steatohepatitis" EXACT [] synonym: "nonalcoholic steatohepatitis" EXACT [] xref: EFO:1001249 is_a: DOID:0080208 ! metabolic dysfunction-associated steatotic liver disease [Term] id: DOID:0080548 name: Noonan syndrome with multiple lentigines 1 def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#genes "DO"] synonym: "LEOPARD syndrome 1" EXACT [] synonym: "LPRD1" EXACT [] xref: MIM:151100 is_a: DOID:14291 ! Noonan syndrome with multiple lentigines [Term] id: DOID:0080549 name: Noonan syndrome with multiple lentigines 2 def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the RAF1 gene on chromosome 3p25. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO", https://www.ncbi.nlm.nih.gov/pubmed/17603483 "DO"] synonym: "LEOPARD syndrome 2" EXACT [] synonym: "LPRD2" EXACT [] xref: MESH:C537117 xref: MIM:611554 xref: MONDO:0012691 is_a: DOID:14291 ! Noonan syndrome with multiple lentigines [Term] id: DOID:0080550 name: Noonan syndrome with multiple lentigines 3 def: "A Noonan syndrome with multiple lentigines that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO"] synonym: "LEOPARD syndrome 3" EXACT [] synonym: "LPRD3" EXACT [] xref: MIM:613707 xref: MONDO:0013380 is_a: DOID:14291 ! Noonan syndrome with multiple lentigines [Term] id: DOID:0080551 name: Naxos disease alt_id: MIM:601214 def: "A nonepidermolytic palmoplantar keratoderma that is characterized by palmoplantar keratoderma, woolly hair and arrhythmogenic right ventricular cardiomyopathy and that has_material_basis_in homozygous mutation in the plakoglobin gene on chromosome 17q21. (DO)" [https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair#genes "DO", https://rarediseases.info.nih.gov/diseases/9795/disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/29747658 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy with skin, hair, and nail abnormalities" EXACT [] synonym: "keratosis palmoplantaris with arrhythmogenic cardiomyopathy" EXACT [] synonym: "Mal de Naxos" EXACT [] synonym: "NXD" EXACT [] synonym: "palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyopathy and woolly hair" EXACT [] synonym: "woolly hair, palmoplantar keratoderma, and cardiac abnormalities" EXACT [] xref: GARD:9795 xref: MESH:C538346 xref: ORDO:34217 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:421 ! hair disease [Term] id: DOID:0080552 name: congenital disorder of glycosylation Ia def: "A congenital disorder of glycosylation I that is characterized by a severe encephalopathy with axial hypotonia, abnormal eye movement, pronounced psychomotor retardation, peripheral neuropathy, cerebellar hypoplasia, and retinitis pigmentosa and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding phosphomannomutase-2 on chromosome 16p13. (DO)" [https://ghr.nlm.nih.gov/condition/pmm2-congenital-disorder-of-glycosylation "DO"] synonym: "carbohydrate-deficient glycoprotein syndrome type 1A" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndrome type Ia" EXACT [] synonym: "CDG1A" EXACT [] synonym: "CDG Ia" EXACT [] synonym: "CDGIa" EXACT [] synonym: "congenital disorder of glycosylation 1a" EXACT [] synonym: "congenital disorder of glycosylation type 1A" EXACT [] synonym: "congenital disorder of glycosylation type Ia" EXACT [] synonym: "Jaeken syndrome" EXACT [] synonym: "phosphomannomutase 2 deficiency" EXACT [] synonym: "PMM2-CDG" EXACT [] synonym: "PMM2-congenital disorder of glycosylation" EXACT [] xref: GARD:9826 xref: MESH:C535739 xref: MIM:212065 xref: MONDO:0008907 xref: NCI:C126868 xref: ORDO:79318 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080553 name: congenital disorder of glycosylation Iaa alt_id: RDO:9001414 def: "A congenital disorder of glycosylation I that is characterized by fibroblasts with reduced dolichol profiles and enhanced accumulation of free cholesterol and has_material_basis_in homozygous mutation in the NUS1 gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25066056 "DO"] synonym: "CDG1AA" EXACT [] synonym: "congenital disorder of glycosylation 1aa" EXACT [] synonym: "congenital disorder of glycosylation type 1AA" EXACT [] synonym: "congenital disorder of glycosylation type Iaa" EXACT [] xref: MIM:617082 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-09-18T16:45:06Z [Term] id: DOID:0080554 name: congenital disorder of glycosylation Ib alt_id: MIM:602579 alt_id: RDO:0001029 def: "A congenital disorder of glycosylation I that is characterized by protein-losing enteropathy, cyclic vomiting, profound hypoglycemia, failure to thrive, liver fibrosis, protein-losing enteropathy with hypoalbuminaemia, life-threatening intestinal bleeding of diffuse origin, protein C and S deficiency, low anti-thrombine III levels and has_material_basis_in compound heterozygous mutation in the gene encoding mannosephosphate isomerase on chromosome 15q24. (DO)" [https://www.omim.org/entry/602579 "DO"] synonym: "carbohydrate-deficient glycoprotein syndrome type 1B" EXACT [] synonym: "CDG1B" EXACT [] synonym: "CDG, GASTROINTESTINAL TYPE" EXACT [] synonym: "CDG Ib" EXACT [] synonym: "CDGIb" EXACT [] synonym: "congenital disorder of glycosylation 1b" EXACT [] synonym: "Congenital Disorder of Glycosylation Type 1B" EXACT [] synonym: "CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ib" EXACT [] synonym: "Mannosephosphate isomerase deficiency" EXACT [] synonym: "MPI DEFICIENCY" EXACT [] synonym: "Protein-losing enteropathy-hepatic fibrosis syndrome" EXACT [] synonym: "Saguenay-Lac Saint-Jean syndrome" EXACT [] synonym: "SLSJ syndrome" EXACT [] xref: GARD:9830 xref: MESH:C535740 xref: ORDO:79319 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080555 name: congenital disorder of glycosylation Ic alt_id: MIM:603147 def: "A congenital disorder of glycosylation I that is characterized by psychomotor retardation with delayed walking and speech, hypotonia, seizures, and sometimes protein-losing enteropathy and has_material_basis_in homozygous or compound heterozygous mutation in the ALG6 gene on chromosome 1p31. (DO)" [https://ghr.nlm.nih.gov/condition/alg6-congenital-disorder-of-glycosylation "DO", https://www.ncbi.nlm.nih.gov/pubmed/16007612 "DO"] synonym: "carbohydrate-deficient glycoprotein syndrome type I, with deficient glycosylation of dolichol-linked oligosaccharide" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndrome type V" EXACT [] synonym: "CDG1C" EXACT [] synonym: "CDG Ic" EXACT [] synonym: "CDGIc" EXACT [] synonym: "CDGS5" EXACT [] synonym: "congenital disorder of glycosylation 1c" EXACT [] synonym: "congenital disorder of glycosylation type 1C" EXACT [] synonym: "congenital disorder of glycosylation, type Ic" EXACT [] xref: GARD:9829 xref: MESH:C535741 xref: NCI:C126869 xref: ORDO:79320 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080556 name: congenital disorder of glycosylation Id alt_id: MIM:601110 def: "A congenital disorder of glycosylation I that is characterized by severe neurologic involvement associated with dysmorphism and visual impairment and has_material_basis_in homozygous or compound heterozygous mutation in the ALG3 gene on chromosome 3q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28108845 "DO"] synonym: "carbohydrate-deficient glycoprotein syndrome, type 4" EXACT [] synonym: "CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE IV" EXACT [] synonym: "CDG1D" EXACT [] synonym: "CDG Id" EXACT [] synonym: "CDGId" EXACT [] synonym: "CDGS4" EXACT [] synonym: "CDGS, TYPE IV" EXACT [] synonym: "congenital disorder of glycosylation 1d" EXACT [] synonym: "congenital disorder of glycosylation type 1D" EXACT [] synonym: "congenital disorder of glycosylation type ID" EXACT [] xref: GARD:9827 xref: MESH:C535742 xref: NCI:C126870 xref: ORDO:79321 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080557 name: congenital disorder of glycosylation Ie alt_id: MIM:608799 alt_id: RDO:0001032 def: "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the DPM1 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23856421 "DO"] synonym: "CDG1E" EXACT [] synonym: "CDG Ie" EXACT [] synonym: "CDGIe" EXACT [] synonym: "congenital disorder of glycosylation 1e" EXACT [] synonym: "congenital disorder of glycosylation type 1E" EXACT [] synonym: "congenital disorder of glycosylation, type IE" EXACT [] xref: GARD:9831 xref: MESH:C535743 xref: NCI:C126871 xref: ORDO:79322 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080558 name: congenital disorder of glycosylation If alt_id: MIM:609180 alt_id: RDO:0001033 def: "A congenital disorder of glycosylation I that is characterized by psychomotor delay, seizures, failure to thrive, and cutaneous and ocular anomalies and has_material_basis_in homozygous or compound heterozygous mutation in the MPDU1 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11733556 "DO"] synonym: "CDG1F" EXACT [] synonym: "CDG If" EXACT [] synonym: "CDGIf" EXACT [] synonym: "congenital disorder of glycosylation 1f" EXACT [] synonym: "congenital disorder of glycosylation type 1F" EXACT [] synonym: "congenital disorder of glycosylation, type IF" EXACT [] xref: GARD:9832 xref: MESH:C535744 xref: NCI:C126872 xref: ORDO:79323 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080559 name: congenital disorder of glycosylation Ig alt_id: MIM:607143 def: "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. (DO)" [https://ghr.nlm.nih.gov/condition/alg12-congenital-disorder-of-glycosylation "DO", https://www.ncbi.nlm.nih.gov/pubmed/17506107 "DO"] synonym: "ALG12-congenital disorder of glycosylation" EXACT [] synonym: "CDG1G" EXACT [] synonym: "CDG Ig" EXACT [] synonym: "CDGIg" EXACT [] synonym: "congenital disorder of glycosylation 1g" EXACT [] synonym: "congenital disorder of glycosylation type 1G" EXACT [] synonym: "congenital disorder of glycosylation, type IG" EXACT [] xref: GARD:9833 xref: MESH:C535745 xref: NCI:C126873 xref: ORDO:79324 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080560 name: congenital disorder of glycosylation Ih alt_id: MIM:608104 def: "A congenital disorder of glycosylation I that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia and has_material_basis_in heterozygous mutation in the gene encoding dolichyl-P-glucose:Glc-1-Man-9-GlcNAc-2-PP-dolichyl-alpha-3-glucosyltransferase on chromosome 11q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28108845 "DO"] synonym: "CDG1H" EXACT [] synonym: "CDG IH" EXACT [] synonym: "CDGIH" EXACT [] synonym: "congenital disorder of glycosylation 1h" EXACT [] synonym: "congenital disorder of glycosylation type 1H" EXACT [] synonym: "congenital disorder of glycosylation type IH" EXACT [] xref: GARD:9834 xref: MESH:C535746 xref: ORDO:79325 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080561 name: congenital disorder of glycosylation Ii alt_id: MIM:607906 def: "A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12684507 "DO"] synonym: "CDG1I" EXACT [] synonym: "CDG Ii" EXACT [] synonym: "CDGIi" EXACT [] synonym: "congenital disorder of glycosylation 1i" EXACT [] synonym: "congenital disorder of glycosylation type 1I" EXACT [] synonym: "congenital disorder of glycosylation type Ii" EXACT [] synonym: "congenital disorders of glycosylation type Ii" EXACT [] xref: GARD:9836 xref: MESH:C535747 xref: ORDO:79326 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080562 name: congenital disorder of glycosylation Ij alt_id: MIM:608093 def: "A congenital disorder of glycosylation I that is characterized by hypotonia, intractable seizures, developmental delay, microcephaly and severe fetal hypokinesia and has_material_basis_in homozygous or compound heterozygous mutation in the DPAGT1 gene, which encodes UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase, on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12872255 "DO"] synonym: "CDG1J" EXACT [] synonym: "CDG Ij" EXACT [] synonym: "CDGIj" EXACT [] synonym: "congenital disorder of glycosylation 1j" EXACT [] synonym: "congenital disorder of glycosylation type 1J" EXACT [] synonym: "congenital disorder of glycosylation, type IJ" EXACT [] xref: GARD:9837 xref: MESH:C535748 xref: NCI:C126874 xref: ORDO:86309 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080563 name: congenital disorder of glycosylation Ik alt_id: MIM:608540 def: "A congenital disorder of glycosylation I that is characterized by severe developmental and psychomotor delay, muscular hypotonia, intractable early-onset seizures, and microcephaly and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-1,4-mannosyltransferase on chromosome 16p13. (DO)" [https://ghr.nlm.nih.gov/condition/alg1-congenital-disorder-of-glycosylation "DO", https://www.ncbi.nlm.nih.gov/pubmed/28108845 "DO"] synonym: "CDG1K" EXACT [] synonym: "CDG Ik" EXACT [] synonym: "CDGIk" EXACT [] synonym: "congenital disorder of glycosylation 1k" EXACT [] synonym: "congenital disorder of glycosylation, type 1K" EXACT [] synonym: "congenital disorder of glycosylation, type IK" EXACT [] xref: GARD:9838 xref: MESH:C535749 xref: ORDO:79327 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080564 name: congenital disorder of glycosylation Il alt_id: MIM:608776 def: "A congenital disorder of glycosylation I that is characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly and has_material_basis_in homozygous mutation in the ALG9 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26453364 "DO"] synonym: "ALG9 CONGENITAL DISORDER OF GLYCOSYLATION" EXACT [] synonym: "CDG1L" EXACT [] synonym: "CDG Il" EXACT [] synonym: "CDGIl" EXACT [] synonym: "congenital disorder of glycosylation 1l" EXACT [] synonym: "congenital disorder of glycosylation, type 1L" EXACT [] synonym: "congenital disorder of glycosylation, type IL" EXACT [] xref: GARD:9839 xref: MESH:C535750 xref: ORDO:79328 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080565 name: congenital disorder of glycosylation Im alt_id: MIM:610768 def: "A congenital disorder of glycosylation I that is characterized by muscular hypotonia and ichthyosis and has_material_basis_in homozygous mutation in the DOLK gene, which encodes the enzyme responsible for the final step of the de novo biosynthesis of dolichol phosphate, on chromosome 9q34. (DO)" [https://ghr.nlm.nih.gov/condition/dolk-congenital-disorder-of-glycosylation "DO", https://www.ncbi.nlm.nih.gov/pubmed/17273964 "DO"] synonym: "CDG1m" EXACT [] synonym: "CDG Im" EXACT [] synonym: "CDGIm" EXACT [] synonym: "congenital disorder of glycosylation 1m" EXACT [] synonym: "Congenital Disorder of Glycosylation Type 1M" EXACT [] synonym: "congenital disorder of glycosylation, type Im" EXACT [] synonym: "DK1 DEFICIENCY" EXACT [] synonym: "dolichol kinase deficiency" EXACT [] synonym: "DOLK-congenital disorder of glycosylation" EXACT [] xref: GARD:12393 xref: MESH:C563666 xref: ORDO:91131 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080566 name: congenital disorder of glycosylation In alt_id: MIM:612015 def: "A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23111317 "DO"] synonym: "CDG1N" EXACT [] synonym: "CDG In" EXACT [] synonym: "CDGIn" EXACT [] synonym: "congenital disorder of glycosylation 1n" EXACT [] synonym: "congenital disorder of glycosylation, type 1N" EXACT [] synonym: "congenital disorder of glycosylation, type In" EXACT [] xref: GARD:12394 xref: MESH:C567437 xref: ORDO:244310 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080567 name: congenital disorder of glycosylation Ip def: "A congenital disorder of glycosylation I that is characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding and has_material_basis_in homozygous or compound heterozygous mutation in the ALG11 gene on chromosome 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22213132 "DO"] synonym: "ALG11-congenital disorder of glycosylation" EXACT [] synonym: "CDG1P" EXACT [] synonym: "congenital disorder of glycosylation 1p" EXACT [] synonym: "congenital disorder of glycosylation, type 1P" EXACT [] synonym: "congenital disorder of glycosylation, type Ip" EXACT [] xref: GARD:12396 xref: MIM:613661 xref: MONDO:0013349 xref: ORDO:280071 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080568 name: congenital disorder of glycosylation Iq def: "A congenital disorder of glycosylation I that is characterized by a highly variable phenotype typically presenting with severe visual impairment, variable ocular anomalies (such as optic nerve hypoplasia/atrophy, iris and optic nerve coloboma, congenital cataract, glaucoma), intellectual disability, cerebellar abnormalities, nystagmus, hypotonia, ataxia, and/or ichthyosiform skin lesions and has_material_basis_in homozygous or compound heterozygous mutation in the SRD5A3 gene on chromosome 4q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20637498 "DO"] synonym: "CDG1Q" EXACT [] synonym: "CDG Iq" EXACT [] synonym: "CDGIq" EXACT [] synonym: "COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES" EXACT [] synonym: "congenital disorder of glycosylation 1q" EXACT [] synonym: "Congenital Disorder of Glycosylation Type 1Q" EXACT [] synonym: "congenital disorder of glycosylation, type Iq" EXACT [] xref: GARD:12397 xref: MIM:612379 xref: ORDO:324737 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080569 name: congenital disorder of glycosylation Ir def: "A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22305527 "DO"] synonym: "CDG1R" EXACT [] synonym: "congenital disorder of glycosylation 1R" EXACT [] synonym: "congenital disorder of glycosylation type 1R" EXACT [] synonym: "congenital disorder of glycosylation, type Ir" EXACT [] synonym: "DDOST-congenital disorder of glycosylation" EXACT [] xref: GARD:12398 xref: MIM:614507 xref: MONDO:0013789 xref: ORDO:300536 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080570 name: congenital disorder of glycosylation It def: "A congenital disorder of glycosylation I that is characterized by a wide range of clinical manifestations, most commonly presenting with bifid uvula with or without cleft palate at birth, associated with growth delay, hepatopathy with elevated aminotransferase serum levels, myopathy (including exercise-related fatigue, exercise intolerance, muscle weakness), intermittent hypoglycemia, and dilated cardiomyopathy and/or cardiac arrest, due to decreased phosphoglucomutase 1 enzyme activity and has_material_basis_in homozygous or compound heterozygous mutation in the PGM1 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24499211 "DO"] synonym: "CDG1T" EXACT [] synonym: "CDG It" EXACT [] synonym: "CDGIt" EXACT [] synonym: "congenital disorder of glycosylation 1t" EXACT [] synonym: "congenital disorder of glycosylation type 1T" EXACT [] synonym: "congenital disorder of glycosylation, type IT" EXACT [] synonym: "glycogen storage disease XIV" EXACT [] synonym: "GSD14" EXACT [] synonym: "GSD XIV" EXACT [] synonym: "PGM1-congenital disorder of glycosylation" EXACT [] synonym: "PGM1 deficiency" EXACT [] synonym: "phosphoglucomutase 1 deficiency" EXACT [] xref: MESH:C567859 xref: MIM:614921 xref: MONDO:0013968 xref: ORDO:319646 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0080571 name: congenital disorder of glycosylation Iu def: "A congenital disorder of glycosylation I that is characterized by respiratory distress and severe hypotonia at birth, severe global developmental delay, early-onset intractable seizures, myopathic fascies with craniofacial dysmorphism (trigonocephaly/progressive microcephaly, low anterior hairline, arched eyebrows, hypotelorism, strabismus, small nose, prominent philtrum, thin upper lip, high-arched palate, micrognathia, malocclusion), severe, congenital flexion joint contractures and elevated serum creatine kinase levels and has_material_basis_in homozygous or compound heterozygous mutation in the DPM2 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23109149 "DO"] synonym: "CDG1U" EXACT [] synonym: "CDG IU" EXACT [] synonym: "CDGIU" EXACT [] synonym: "congenital disorder of glycosylation 1u" EXACT [] synonym: "congenital disorder of glycosylation type 1U" EXACT [] synonym: "congenital disorder of glycosylation, type Iu" EXACT [] xref: GARD:12416 xref: MIM:615042 xref: ORDO:329178 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0080572 name: congenital disorder of glycosylation Iw alt_id: MIM:619714 def: "A congenital disorder of glycosylation I that is characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures and has_material_basis_in homozygous mutation in the STT3A gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23842455 "DO"] synonym: "CDG1W" EXACT [] synonym: "CDG1WAD" NARROW [] synonym: "CDG1WAR" NARROW [] synonym: "CDG Iw" EXACT [] synonym: "CDGIw" EXACT [] synonym: "CDG syndrome type Iw" EXACT [] synonym: "congenital disorder of glycosylation 1w" EXACT [] synonym: "congenital disorder of glycosylation type 1W" EXACT [] synonym: "congenital disorder of glycosylation, type Iw" EXACT [] synonym: "congenital disorder of glycosylation, type Iw, autosomal dominant" NARROW [] synonym: "congenital disorder of glycosylation, type Iw, autosomal recessive" NARROW [] xref: MIM:615596 xref: ORDO:370921 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-12-01T00:00:00Z [Term] id: DOID:0080573 name: congenital disorder of glycosylation Ix alt_id: MIM:615597 def: "A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23842455 "DO"] synonym: "CDG1X" EXACT [] synonym: "CDG Ix" EXACT [] synonym: "CDGIx" EXACT [] synonym: "congenital disorder of glycosylation 1x" EXACT [] synonym: "congenital disorder of glycosylation type 1X" EXACT [] synonym: "congenital disorder of glycosylation, type Ix" EXACT [] xref: MESH:C535751 xref: ORDO:370924 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0080574 name: congenital disorder of glycosylation Iy def: "A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26264460 "DO"] synonym: "CDG1Y" EXACT [] synonym: "CDG IY" EXACT [] synonym: "CDGIy" EXACT [] synonym: "congenital disorder of glycosylation 1y" EXACT [] synonym: "congenital disorder of glycosylation type 1Y" EXACT [] synonym: "congenital disorder of glycosylation, type Iy" EXACT [] synonym: "SSR4-congenital disorder of glycosylation" EXACT [] xref: GARD:12405 xref: MIM:300934 xref: MONDO:0010490 xref: ORDO:370927 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0080575 name: Larsen-like syndrome B3GAT3 type def: "A syndrome that is characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations and has_material_basis_in homozygous mutation in the B3GAT3 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC4654953/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/25893793 "DO"] synonym: "autosomal recessive Larsen syndrome" EXACT [] synonym: "JDSCD" EXACT [] synonym: "Larsen syndrome, recessive" EXACT [] synonym: "Larsen syndrome, recessive type" EXACT [] synonym: "multiple joint dislocations, short stature, and craniofacial dysmorphism with or without congenital heart defects" EXACT [] synonym: "MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITHOUT CONGENITAL HEART DEFECTS" NARROW [] synonym: "multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" EXACT [] synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [] xref: MESH:C537874 xref: MIM:245600 xref: MONDO:0009511 xref: ORDO:284139 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:9000896 ! Larsen-Like Syndromes is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2019-03-19T15:02:22Z [Term] id: DOID:0080576 name: spondyloepimetaphyseal dysplasia, Genevieve-type alt_id: MIM:610442 def: "A spondyloepimetaphyseal dysplasia that is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses and has_material_basis_in homozygous or compound heterozygous mutation in the NANS gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27213289 "DO"] synonym: "NANS deficiency" EXACT [] synonym: "SEMDG" EXACT [] synonym: "SEMD, Genevieve type" EXACT [] xref: GARD:10057 xref: MESH:C535785 xref: ORDO:168454 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9004507 ! Hirsutism is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0080577 name: polygenic disease def: "A genetic disease that is characterized by the additive contributions of variants in multiple genes at different loci. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P "DO"] is_a: DOID:630 ! genetic disease [Term] id: DOID:0080578 name: digenic disease def: "A polygenic disease that is characterized by expression of a phenotype that requires the presence of pathogenic variants in two different genes. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK5191/#IX-P "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3778050/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28977688 "DO"] is_a: DOID:0080577 ! polygenic disease [Term] id: DOID:0080579 name: 3-methylcrotonyl-CoA carboxylase 1 deficiency def: "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the alpha subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 3q27. (DO)" [https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency "DO"] synonym: "3 alpha methylcrotonylglycinuria 1" EXACT [] synonym: "3-Methylcrotonylglycinuria I" EXACT [] synonym: "MCC1D" EXACT [] synonym: "MCC1 deficiency" EXACT [] synonym: "MCCD Type 1" EXACT [] synonym: "methylcrotonoyl-CoA carboxylase 1 deficiency" EXACT [] synonym: "methylcrotonylglycinuria type I" EXACT [] xref: MESH:C535308 xref: MIM:210200 xref: MONDO:0008861 is_a: DOID:0050710 ! 3-methylcrotonyl-CoA carboxylase deficiency [Term] id: DOID:0080580 name: 3-methylcrotonyl-CoA carboxylase 2 deficiency def: "A 3-Methylcrotonyl-CoA carboxylase deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the beta subunit of 3-methylcrotonyl-CoA carboxylase on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/3-methylcrotonyl-coa-carboxylase-deficiency "DO"] synonym: "3 alpha methylcrotonyl-coa carboxylase 2 deficiency" EXACT [] synonym: "3 alpha methylcrotonylglycinuria 2" EXACT [] synonym: "3-methylcrotonylglycinuria II" EXACT [] synonym: "MCC2D" EXACT [] synonym: "MCC2 deficiency" EXACT [] synonym: "methylcrotonoyl-CoA carboxylase 2 deficiency" EXACT [] synonym: "methylcrotonylglycinuria type 2" EXACT [] synonym: "methylcrotonylglycinuria, type II" EXACT [] xref: MESH:C535309 xref: MIM:210210 xref: MONDO:0008862 is_a: DOID:0050710 ! 3-methylcrotonyl-CoA carboxylase deficiency [Term] id: DOID:0080581 name: hyperekplexia 4 def: "A hyperekplexia that is characterized by extreme hypertonia, stiff and rigid appearance and that has_material_basis_in homozygous mutation in the ATAD1 gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29390050 "DO"] synonym: "HKPX4" EXACT [] xref: MIM:618011 xref: MONDO:0044330 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060695 ! hyperekplexia [Term] id: DOID:0080582 name: hypotrichosis 14 def: "A hypotrichosis that is characterized by sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair and that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30401459 "DO"] synonym: "HYPT14" EXACT [] xref: MIM:618275 xref: MONDO:0032649 is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0080583 name: Wolfram syndrome, mitochondrial form alt_id: MIM:598500 def: "A Wolfram syndrome that has_material_basis_in mutation in mtDNA. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8383698 "DO"] synonym: "diabetes insipidus and mellitus with optic atrophy and deafness, mitochondrial form" EXACT [] synonym: "DIDMOAD, mitochondrial form" EXACT [] synonym: "DIDMOAD syndrome, mitochondrial form" EXACT [] xref: MESH:C564012 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10632 ! Wolfram syndrome is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:0080584 name: autosomal dominant Wolfram syndrome alt_id: MIM:614296 def: "A Wolfram syndrome that is characterized by congenital progressive hearing impairment, diabetes mellitus, and optic atrophy and that has_material_basis_in autosomal dominant inheritance of a heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18544103 "DO"] synonym: "HEARING LOSS, PROGRESSIVE, WITH OPTIC ATROPHY AND/OR IMPAIRED GLUCOSE REGULATION" EXACT [] synonym: "WFSL" EXACT [] synonym: "WOLFRAM-LIKE DISORDER" EXACT [] synonym: "Wolfram-like syndrome, autosomal dominant" EXACT [] xref: EFO:0009063 xref: MESH:C565631 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10632 ! Wolfram syndrome [Term] id: DOID:0080585 name: Van Maldergem syndrome 1 def: "A Van Maldergem syndrome that has_material_basis_in homozygous mutation in the DCHS1 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24056717 "DO"] synonym: "DCHS1-RELATED CONDITION" BROAD [] synonym: "DCHS1-RELATED DISORDER" BROAD [] synonym: "VMLDS1" EXACT [] xref: MIM:601390 xref: NCI:C188993 is_a: DOID:0060238 ! Van Maldergem syndrome [Term] id: DOID:0080586 name: Van Maldergem syndrome 2 def: "A Van Malergem syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FAT4 gene on chromosome 4q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24056717 "DO"] synonym: "FAT4-RELATED CONDITION" BROAD [] synonym: "VMLDS2" EXACT [] xref: MIM:615546 xref: NCI:C188994 is_a: DOID:0060238 ! Van Maldergem syndrome created_by: slaulede creation_date: 2018-04-18T11:21:41Z [Term] id: DOID:0080587 name: congenital myasthenic syndrome 22 def: "A congenital myasthenic syndrome characterized by neonatal hypotonia, neonatal feeding problems, and nasal dysarthria and that has_material_basis_in homozygous or compound heterozygous mutation in the PREPL gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28726805 "DO"] synonym: "CMS22" EXACT [] synonym: "PREPL DEFICIENCY" EXACT [] xref: MIM:616224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0080588 name: agammaglobulinemia 5 def: "An agammaglobulinemia that has_material_basis_in heterozygous mutation in the LRRC8A gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14660746 "DO"] synonym: "AGM5" EXACT [] synonym: "autosomal dominant agammaglobulinemia 5" EXACT [] synonym: "autosomal dominant agammaglobulinemia due to LRRC8A defect" EXACT [] synonym: "LRRC8A-RELATED CONDITION" EXACT [] xref: MIM:613506 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0080589 name: Klippel-Feil syndrome 1 def: "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18425797 "DO"] synonym: "KFS1" EXACT [] synonym: "Klippel-Feil syndrome 1, autosomal dominant" EXACT [] synonym: "Klippel-Feil syndrome 1, dominant type" EXACT [] xref: MIM:118100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080590 name: Klippel-Feil syndrome 2 def: "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MEOX1 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23290072 "DO"] synonym: "KFS2" EXACT [] synonym: "Klippel-Feil syndrome 2, autosomal recessive" EXACT [] xref: MIM:214300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080591 name: Klippel-Feil syndrome 3 def: "A Klippel-Feil syndrome that has_material_basis_in heterozygous mutation in the GDF3 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19864492 "DO"] synonym: "KFS3" EXACT [] synonym: "Klippel-Feil syndrome 3, autosomal dominant" EXACT [] xref: MIM:613702 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:0080592 name: Klippel-Feil syndrome 4 def: "A Klippel-Feil syndrome that has_material_basis_in homozygous mutation in the MYO18B gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25748484 "DO"] synonym: "KFS4" EXACT [] synonym: "Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism" EXACT [] synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism" EXACT [] synonym: "MYO18B-RELATED CONDITION" EXACT [] xref: MIM:616549 xref: ORDO:447974 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10426 ! Klippel-Feil syndrome is_a: DOID:3191 ! nemaline myopathy is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080593 name: orofacial cleft 6 def: "An orofacial cleft that has_material_basis_in variation in an enhancer of the IRF6 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17702008 "DO"] synonym: "nonsyndromic cleft lip with or without cleft palate 6" RELATED [] synonym: "OFC6" EXACT [] synonym: "orofacial cleft 6, susceptibility to" RELATED [] xref: MIM:608864 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0080594 name: hyper IgE recurrent infection syndrome 2 def: "A hyper IgE syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK8 gene on chromosome 9p24. (DO)" [https://ghr.nlm.nih.gov/condition/dock8-immunodeficiency-syndrome#synonyms "DO", https://www.ncbi.nlm.nih.gov/pubmed/19776401 "DO"] synonym: "DOCK8-RELATED CONDITION" EXACT [] synonym: "HIES2" EXACT [] synonym: "hyper-IgE recurrent infection syndrome 2, autosomal recessive" EXACT [] synonym: "hyper-IgE syndrome 2, autosomal recessive, with recurrent infections" EXACT [] xref: GARD:2816 xref: MIM:243700 xref: ORDO:217390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:0080595 name: hyper IgE recurrent infection syndrome 3 def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the ZNF341 gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29907690 "DO"] synonym: "HIES3" EXACT [] synonym: "hyper-IgE recurrent infection syndrome 3, autosomal recessive" EXACT [] synonym: "hyper-IgE syndrome 3, autosomal recessive, with recurrent infections" EXACT [] xref: MIM:618282 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:0080596 name: hyper IgE recurrent infection syndrome 4 alt_id: MIM:618523 alt_id: MIM:619752 def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6ST gene on chromosome 5q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28747427 "DO"] synonym: "HIES4" EXACT [] synonym: "HIES4A" NARROW [] synonym: "HIES4B" NARROW [] synonym: "hyper-IgE recurrent infection syndrome 4A, autosomal dominant" NARROW [] synonym: "hyper-IgE recurrent infection syndrome 4, autosomal recessive" NARROW [] synonym: "hyper-IgE recurrent infection syndrome 4B, autosomal recessive" NARROW [] synonym: "hyper-IgE syndrome 4B, autosomal recessive, with recurrent infections" NARROW [] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome [Term] id: DOID:0080597 name: Kleefstra syndrome def: "A syndrome that is characterized by developmental delay and intellectual disability, severely limited or absent speech, and weak muscle tone. (DO)" [http://ghr.nlm.nih.gov/condition/kleefstra-syndrome "DO"] xref: MIM:PS610253 xref: NCI:C129976 is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0080598 name: Kleefstra syndrome 2 def: "A Kleefstra syndrome that is characterized by delayed psychomotor development, variable intellectual disability, and mild dysmorphic features and has_material_basis_in heterozygous mutation in the KMT2C gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29069077 "DO"] synonym: "KLEEFSTRA SYNDROME DUE TO A POINT MUTATION" NARROW [] synonym: "KLEFS2" EXACT [] synonym: "KMT2C-RELATED CONDITION" EXACT [] synonym: "KMT2C-RELATED NDD" EXACT [] xref: MIM:617768 xref: ORDO:261652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080597 ! Kleefstra syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:0080599 name: Coronavirus infectious disease def: "A viral infectious disease that has_material_basis_in Coronavirus. (DO)" [https://www.cdc.gov/coronavirus/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK7782/ "DO", https://www.who.int/health-topics/coronavirus "DO"] synonym: "Coronavirus infection" EXACT [] synonym: "Coronavirus Infections" EXACT [] xref: EFO:0007224 xref: MESH:D018352 is_a: DOID:9001645 ! Coronaviridae Infections [Term] id: DOID:0080600 name: COVID-19 def: "A Coronavirus infectious disease that is characterized by fever, cough and shortness of breath and that has_material_basis_in SARS-CoV-2. (DO)" [https://www.cdc.gov/coronavirus/2019-ncov/about/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=32007143 "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=32007145 "DO", https://www.ncbi.nlm.nih.gov/Taxonomy/Browser/wwwtax.cgi?id=2697049 "DO", https://www.who.int/emergencies/diseases/novel-coronavirus-2019 "DO"] synonym: "2019-nCoV infection" EXACT [] synonym: "2019 Novel Coronavirus (2019-nCoV)" EXACT [] synonym: "COVID19" EXACT [] synonym: "COVID-19–ASSOCIATED MULTISYSTEM INFLAMMATORY SYNDROME IN ADULTS" RELATED [] synonym: "OAS1 POLYMORPHISM" RELATED [] synonym: "SARS-CoV-2 infection" EXACT [] synonym: "SUSCEPTIBILITY TO SEVERE CORONAVIRUS DISEASE (COVID-19)" RELATED [] synonym: "Wuhan coronavirus infection" EXACT [] synonym: "Wuhan seafood market pneumonia virus infection" EXACT [] xref: ICD10CM:U07.1 xref: MESH:D000086382 xref: MONDO:0100096 xref: NCI:C171133 is_a: DOID:0080599 ! Coronavirus infectious disease [Term] id: DOID:0080601 name: germ cell benign neoplasm def: "A benign neoplasm that derives_from germ cells. (DO)" [https://en.wikipedia.org/wiki/Germ_cell_tumor "DO"] is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:9005959 ! Gonadal Tissue Neoplasms [Term] id: DOID:0080602 name: benign teratoma def: "A germ cell benign neoplasm that derives_from mature tissue elements or a limited amount of immature tissue elements. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&code=C67107&ns=ncit "DO"] synonym: "benign teratomas" EXACT [] xref: ICDO:9080/1 xref: NCI:C67107 is_a: DOID:0080601 ! germ cell benign neoplasm [Term] id: DOID:0080603 name: ankylosing spondylitis 1 def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 6p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6332689 "DO"] synonym: "SPDA1" EXACT [] synonym: "spondyloarthropathy, susceptibility to, 1" RELATED [] xref: MIM:106300 is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0080604 name: ankylosing spondylitis 2 def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B27 allele on chromosome 9q31-q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15234954 "DO"] synonym: "SPDA2" EXACT [] synonym: "Spondyloarthropathy, Susceptibility to, 2" RELATED [] xref: MIM:183840 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7147 ! ankylosing spondylitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0080605 name: ankylosing spondylitis 3 def: "A ankylosing spondylitis that has_material_basis_in variation in the HLA-B allele on chromosome 2q36.1-q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19416804 "DO"] synonym: "SPDA3" EXACT [] synonym: "Spondyloarthropathy, Susceptibility to, 3" RELATED [] xref: MIM:613238 is_a: DOID:7147 ! ankylosing spondylitis [Term] id: DOID:0080606 name: anterior segment dysgenesis 1 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"] synonym: "ANTERIOR SEGMENT DYSGENESIS 1, MULTIPLE SUBTYPES" EXACT [] synonym: "ASGD1" EXACT [] synonym: "PITX3-RELATED CONDITION" BROAD [] xref: MIM:107250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080607 name: anterior segment dysgenesis 2 def: "An anterior segment dysgenesis that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the FOXE3 gene on chromosome 1p33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21150893 "DO"] xref: MIM:610256 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060648 ! anterior segment dysgenesis created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:0080608 name: anterior segment dysgenesis 3 alt_id: MIM:601631 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"] synonym: "ASGD3" EXACT [] synonym: "glaucoma iridogoniodysplasia, familial" EXACT [] synonym: "IGDA" EXACT [] synonym: "IRID 1" EXACT [] synonym: "IRID1" EXACT [] synonym: "iridogoniodysgenesis anomaly, autosomal dominant" EXACT [] synonym: "iridogoniodysgenesis type 1" EXACT [] synonym: "iridogoniodysgenesis type1" EXACT [] synonym: "iris hypoplasia and glaucoma" RELATED [] xref: MESH:C535535 xref: MESH:C566650 is_a: DOID:0050786 ! iridogoniodysgenesis syndrome is_a: DOID:0060648 ! anterior segment dysgenesis is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0080609 name: anterior segment dysgenesis 4 alt_id: MIM:137600 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"] synonym: "ASGD4" EXACT [] synonym: "IHGA" EXACT [] synonym: "IRID 2" EXACT [] synonym: "IRID2" EXACT [] synonym: "iridogoniodysgenesis type 2" EXACT [] synonym: "iris hypoplasia with early onset glaucoma, autosomal dominant" EXACT [] xref: MESH:C535536 is_a: DOID:0050786 ! iridogoniodysgenesis syndrome is_a: DOID:0060648 ! anterior segment dysgenesis is_a: DOID:1686 ! glaucoma is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0080610 name: anterior segment dysgenesis 5 def: "An anterior segment dysgenesis that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"] synonym: "anterior segment dysgenesis 5, multiple subtypes" EXACT [] synonym: "anterior segment dysgenesis 5, multiple types" EXACT [] synonym: "anterior segment dysgenesis 5, Peters anomaly subtype" EXACT [] synonym: "ASGD5" EXACT [] xref: MIM:604229 is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080611 name: anterior segment dysgenesis 6 def: "An anterior segment dysgenesis that has_material_basis_in compound heterozygous mutation in the CYP1B1 gene on chromosome 2p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"] synonym: "anterior segment dysgenesis 6, multiple subtypes" EXACT [] synonym: "ASGD6" EXACT [] synonym: "CYP1B1-RELATED CONDITION" BROAD [] synonym: "CYP1B1-related disorder" BROAD [] synonym: "IRIDO-CORNEO-TRABECULAR DYSGENESIS" NARROW [] xref: MIM:617315 is_a: DOID:0060648 ! anterior segment dysgenesis created_by: slaulede creation_date: 2018-04-24T12:34:51Z [Term] id: DOID:0080612 name: anterior segment dysgenesis 7 def: "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the PXDN gene on chromosome 2p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"] synonym: "ASGD7" EXACT [] synonym: "COPOA" EXACT [] synonym: "sclerocornea with other ocular anomalies" EXACT [] xref: MIM:269400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060648 ! anterior segment dysgenesis created_by: rgd creation_date: 2018-01-15T14:21:00Z [Term] id: DOID:0080613 name: anterior segment dysgenesis 8 def: "An anterior segment dysgenesis that has_material_basis_in homozygous or compound heterozygous mutation in the CPAMD8 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27839872 "DO"] synonym: "ASGD8" EXACT [] xref: MIM:617319 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060648 ! anterior segment dysgenesis [Term] id: DOID:0080614 name: oculocutaneous albinism type VI def: "An oculocutaneous albinism that has_material_basis_in an autosomal recessive null mutation of the SLC24A5 gene on chromosome 15q21.1. (DO)" [https://www.omim.org/entry/203100?search=albinism%20type%20ia&highlight=albinism%20ia%20type "DO"] synonym: "OCA6" EXACT [] synonym: "oculocutaneous albinism-6" EXACT [] xref: MIM:113750 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:0080615 name: nephroma def: "A kidney benign neoplasm that is located_in the kidney cortex. (DO)" [https://www.stjude.org/disease/nephroma.html "DO"] synonym: "benign nephroma" EXACT [] is_a: DOID:0080616 ! kidney cortex disease is_a: DOID:3116 ! kidney benign neoplasm [Term] id: DOID:0080616 name: kidney cortex disease def: "A kidney disease that is located_in the kidney cortex. (DO)" [https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys "DO"] is_a: DOID:557 ! kidney disease created_by: gthayman creation_date: 2019-03-29T12:24:01Z [Term] id: DOID:0080617 name: lymph node benign neoplasm def: "An immune system organ benign neoplasm that is located_in the lymph nodes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C3636&key=n1052416749&b=1&n=null "DO"] xref: NCI:C3636 is_a: DOID:0060092 ! immune system organ benign neoplasm is_a: DOID:9942 ! lymph node disease created_by: gthayman creation_date: 2019-05-30T12:16:44Z [Term] id: DOID:0080618 name: lymph node carcinoma def: "A lymph node cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [https://medlineplus.gov/ency/patientinstructions/000824.htm "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5829610/ "DO"] is_a: DOID:10619 ! lymph node cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:0080619 name: auditory system benign neoplasm def: "A sensory system benign neoplasm that is located in the auditory system. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C8417&key=n1512346313&b=1&n=null "DO"] xref: NCI:C8417 is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:2742 ! auditory system disease [Term] id: DOID:0080620 name: familial glucocorticoid deficiency def: "An adrenal cortex disease that is characterized by insufficient production of glucocorticoids. (DO)" [https://ghr.nlm.nih.gov/condition/familial-glucocorticoid-deficiency "DO"] xref: MIM:PS202200 is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0080621 name: glucocorticoid deficiency 1 def: "A familial glucocorticoid deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding melanocortin-2 receptor, which is also referred to as adrenocorticotropin receptor, on chromosome 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19500760 "DO"] synonym: "ACTH resistance" EXACT [] synonym: "adrenal unresponsiveness to ACTH" EXACT [] synonym: "familial glucocorticoid deficiency 1" EXACT [] synonym: "FGD1" EXACT [] synonym: "GCCD1" EXACT [] xref: MESH:C565974 xref: MIM:202200 xref: MONDO:0024536 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080620 ! familial glucocorticoid deficiency is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:0080622 name: peroxisome biogenesis disorder 2B def: "A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22871920 "DO"] synonym: "PBD2B" EXACT [] xref: MIM:202370 xref: NCI:C155751 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:10588 ! adrenoleukodystrophy [Term] id: DOID:0080623 name: Heimler syndrome 1 alt_id: MIM:234580 def: "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in homozygous or compound heterozygous mutations in the PEX1 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26387595 "DO"] synonym: "bilateral sensorineural hearing loss, enamel hypoplasia and nail defects" EXACT [] synonym: "Deafness Enamel Hypoplasia Nail Defects" EXACT [] synonym: "Deafness-enamel hypoplasia-nail defects syndrome" BROAD [] synonym: "Hearing Loss, Sensorineural, With Enamel Hypoplasia And Nail Defects" EXACT [] synonym: "Heimler syndrome" EXACT [] synonym: "HMLR1" EXACT [] synonym: "PBD1C" EXACT [] synonym: "peroxisomal biogenesis disorder 1C" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER 1C" EXACT [] synonym: "sensorineural hearing loss, enamel hypoplasia, and nail abnormalities" EXACT [] xref: MESH:C535994 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:0080624 name: Heimler syndrome 2 def: "A peroxisomal biogenesis disorder that is characterized by sensorineural hearing loss, generalised enamel hypoplasia of the permanent dentition with normal primary dentition, and nail defects and has_material_basis_in compound heterozygous mutation in the PEX6 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16530715 "DO"] synonym: "HMLR2" EXACT [] synonym: "PBD4C" EXACT [] synonym: "peroxisomal biogenesis disorder 4C" EXACT [] synonym: "peroxisome biogenesis disorder 4C" EXACT [] xref: MIM:616617 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:0080625 name: severe congenital neutropenia 1 alt_id: MIM:202700 def: "A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17133096 "DO"] synonym: "ELANE-RELATED CONDITION" BROAD [] synonym: "SCN1" EXACT [] synonym: "severe congenital neutropenia, autosomal dominant 1" EXACT [] xref: MESH:C565969 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia [Term] id: DOID:0080626 name: corticosterone methyloxidase deficiency 1 alt_id: MIM:203400 def: "An adrenal gland disease that is characterized by excessive amounts of sodium released in the urine, along with insufficient release of potassium in the urine, usually beginning in the first few weeks of life. (DO)" [https://ghr.nlm.nih.gov/condition/corticosterone-methyloxidase-deficiency "DO"] synonym: "18-alpha hydroxylase deficiency" EXACT [] synonym: "18-hydroxylase deficiency" EXACT [] synonym: "18-oxidase deficiency" EXACT [] synonym: "Aldosterone deficiency 1" EXACT [] synonym: "Aldosterone deficiency due to defect in 18-hydroxylase" EXACT [] synonym: "ALDOSTERONE DEFICIENCY DUE TO DEFECT IN STEROID 18-HYDROXYLASE" EXACT [] synonym: "ALDOSTERONE DEFICIENCY DUE TO DEFICIENCY OF STEROID 18-OXIDASE" EXACT [] synonym: "ALDOSTERONE DEFICIENCY I" EXACT [] synonym: "Aldosterone Deficiency Type I" EXACT [] synonym: "aldosterone synthase deficiency" BROAD [] synonym: "CMO I Deficiency" EXACT [] synonym: "CORTICOSTERONE 18-MONOOXYGENASE DEFICIENCY" EXACT [] synonym: "Corticosterone methyloxidase type 1 deficiency" EXACT [] synonym: "Corticosterone Methyloxidase Type I Deficiency" EXACT [] synonym: "CYP11B2-RELATED DISORDER" BROAD [] synonym: "EARLY-ONSET FAMILIAL HYPOALDOSTERONISM" BROAD [] synonym: "FAMILIAL HYPOALDOSTERONISM" BROAD [] synonym: "FHHA1A" EXACT [] synonym: "FHHA1B" EXACT [] synonym: "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1" EXACT [] synonym: "Hyperreninemic Hypoaldosteronism, Familial, Type I" EXACT [] synonym: "steroid 18-hydroxylase deficiency" EXACT [] synonym: "steroid 18-oxidase deficiency" EXACT [] xref: MESH:C537806 xref: ORDO:427 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005658 ! Hypoaldosteronism [Term] id: DOID:0080627 name: alopecia-mental retardation syndrome def: "A syndrome that is characterized by loss of hair on the scalp, eyebrows, eyelashes, axillas and pubic hair, in addition to mild to severe intellectual disability. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17451405 "DO"] xref: GARD:612 xref: MIM:PS203650 xref: ORDO:2850 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:987 ! alopecia [Term] id: DOID:0080628 name: alopecia-mental retardation syndrome 1 alt_id: MIM:203650 def: "An alopecia-mental retardation syndrome that has_material_basis_in homozygous mutation in the AHSG gene on chromosome 3q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28054173 "DO"] synonym: "alopecia-intellectual disability syndrome 1" EXACT [] synonym: "AMR Syndrome" EXACT [] synonym: "APMR1" EXACT [] xref: MESH:C565965 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome [Term] id: DOID:0080629 name: alopecia-mental retardation syndrome 2 alt_id: MIM:610422 def: "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 3q26.2-q26.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16922726 "DO"] synonym: "alopecia-intellectual disability syndrome 2" EXACT [] synonym: "APMR2" EXACT [] xref: MESH:C563668 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome created_by: mtutaj creation_date: 2019-05-08T11:54:31Z [Term] id: DOID:0080630 name: B-lymphoblastic leukemia/lymphoma alt_id: DOID:7061 alt_id: MIM:176310 def: "A B-cell acute lymphoblastic leukemia that is characterized by the presence of too many B-cell lymphoblasts in the blood and bone marrow. (DO)" [https://en.wikipedia.org/wiki/Precursor_B-cell_lymphoblastic_leukemia "DO"] synonym: "acute pre-B-cell leukemia" EXACT [] synonym: "B-ALL" EXACT [] synonym: "B-cell leukemia" EXACT [] synonym: "B-cell leukemias" EXACT [] synonym: "B-cell lymphocytic leukemia" EXACT [] synonym: "B-cell lymphocytic leukemias" EXACT [] synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA, NOT OTHERWISE SPECIFIED" EXACT [] synonym: "B lymphocytic leukemia" EXACT [] synonym: "B-lymphocytic leukemias" EXACT [] synonym: "Pre B ALL" EXACT [] synonym: "pre-B-cell acute lymphoblastic leukemia" EXACT [] synonym: "pre-B-cell leukemia" EXACT [] synonym: "pre-B-cell leukemias" EXACT [] synonym: "precursor B cell lymphoblastic leukemia" EXACT [] synonym: "precursor B cell lymphoblastic lymphoma" EXACT [] synonym: "precursor B lymphoblastic lymphoma/leukemia" EXACT [] xref: EFO:0000094 xref: ICDO:9836/3 xref: MESH:D015448 xref: MESH:D015452 xref: NCI:C8936 is_a: DOID:0080638 ! B-cell acute lymphoblastic leukemia is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:0080631 name: Elsahy-Waters syndrome alt_id: MIM:211380 def: "A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20949527 "DO"] synonym: "Brachioskeletogenital Syndrome" EXACT [] synonym: "branchioskeletogenital syndrome" EXACT [] synonym: "BSG syndrome" EXACT [] synonym: "ESWS" EXACT [] synonym: "hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss" EXACT [] xref: GARD:955 xref: MESH:C537084 xref: ORDO:1299 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080632 name: Fazio-Londe disease def: "A progressive bulbar palsy that is characterized by motor, sensory and cranial neuronopathy and that has_material_basis_in homozygous mutation in the C20ORF54 gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK299312/ "DO"] synonym: "childhood progressive bulbar palsy" EXACT [] synonym: "Fazio Londe syndrome" EXACT [] synonym: "progressive bulbar palsy of childhood" EXACT [] synonym: "riboflavin transporter deficiency neuronopathy" EXACT [] xref: MIM:211500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:681 ! progressive bulbar palsy created_by: slaulede creation_date: 2019-01-11T18:12:54Z [Term] id: DOID:0080633 name: developmental cardiac valvular defect alt_id: MIM:212093 def: "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29581714 "DO"] synonym: "cardiac valvular dysplasia 1" EXACT [] synonym: "CVDP1" EXACT [] xref: MESH:C565882 is_a: DOID:9007172 ! Cardiac Valvular Dysplasia [Term] id: DOID:0080634 name: nanophthalmos def: "A microphthalmia that is characterized by a small eye with a short axial length, severe hyperopia, an elevated lens/eye ratio, and a high incidence of angle-closure glaucoma. (DO)" [https://eyewiki.aao.org/Nanophthalmos "DO"] synonym: "nanophthalmia" EXACT [] xref: MIM:PS600165 xref: ORDO:35612 is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080635 name: optic disc anomalies with retinal and/or macular dystrophy def: "A microphthalmia that has_material_basis_in homozygous mutation in the SIX6 gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24702266 "DO"] synonym: "ODRMD" EXACT [] xref: MIM:212550 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080636 name: syndromic microphthalmia def: "A microphthalmia that occurs as part of a syndrome that affects other organs and tissues in the body. (DO)" [https://ghr.nlm.nih.gov/condition/microphthalmia "DO"] synonym: "syndromic microphthalmia, dominant" NARROW [] xref: MIM:PS309800 is_a: DOID:10629 ! microphthalmia created_by: mtutaj creation_date: 2019-06-25T12:16:09Z [Term] id: DOID:0080637 name: isolated microphthalmia def: "A microphthalmia that occurs by itself. (DO)" [https://ghr.nlm.nih.gov/condition/microphthalmia "DO"] is_a: DOID:10629 ! microphthalmia [Term] id: DOID:0080638 name: B-cell acute lymphoblastic leukemia def: "An acute lymphocytic leukemia characterized by too many B-cell lymphoblasts (immature white blood cells) in the bone marrow and blood. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/b-cell-acute-lymphoblastic-leukemia "DO"] synonym: "B acute lymphoblastic leukemia" EXACT [] synonym: "B-cell acute lymphoblastic leukemia, susceptibility to" RELATED [] synonym: "B-cell acute lymphocytic leukemia" EXACT [] synonym: "precursor B-cell acute lymphoblastic leukemia" NARROW [] xref: EFO:0000093 xref: EFO:0000094 xref: MONDO:0020511 xref: NCI:C8644 is_a: DOID:0060058 ! lymphoma is_a: DOID:9952 ! acute lymphoblastic leukemia [Term] id: DOID:0080639 name: bone sarcoma def: "A bone cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5805807 "DO"] xref: NCI:C9312 is_a: DOID:1115 ! sarcoma is_a: DOID:184 ! bone cancer [Term] id: DOID:0080640 name: gallbladder benign neoplasm def: "A biliary tract benign neoplasm that is located_in the gallbladder. (DO)" [https://link.springer.com/chapter/10.1007/978-3-319-12985-3_15 "DO"] xref: NCI:C4440 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:9000011 ! Gallbladder Neoplasms created_by: slaulede creation_date: 2018-09-11T14:17:06Z [Term] id: DOID:0080641 name: tongue carcinoma def: "A tongue cancer that derives_from epithelial cells that cover the surface of the tongue. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.02d&ns=ncit&code=C4824&key=1996231099&b=1&n=null "DO"] is_a: DOID:305 ! carcinoma is_a: DOID:8649 ! tongue cancer [Term] id: DOID:0080642 name: Middle East respiratory syndrome def: "A Coronavirus infectious disease that is characterized by severe respiratory illness, including fever, cough, and shortness of breath and that has_material_basis_in MERS-CoV. (DO)" [https://en.wikipedia.org/wiki/Middle_East_respiratory_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/23891402/ "DO", https://pubmed.ncbi.nlm.nih.gov/29495250 "DO", https://www.cdc.gov/coronavirus/mers/index.html "DO", https://www.who.int/news-room/q-a-detail/middle-east-respiratory-syndrome-coronavirus-(mers-cov) "DO"] synonym: "MERS" EXACT [] synonym: "MERS (Middle East respiratory syndrome)" EXACT [] is_a: DOID:0080599 ! Coronavirus infectious disease [Term] id: DOID:0080643 name: B-lymphoblastic leukemia/lymphoma with BCR-ABL1 def: "A B-lymphoblastic leukemia/lymphoma that derives_from B-lymphoblasts and carries a translocation between the BCR gene on chromosome 22 and the ABL1 gene on chromosome 9. It results in the production of the p190 kd or p210 kd fusion protein. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80331 "DO"] synonym: "ABL1-RELATED DISORDER" BROAD [] synonym: "B-ALL with BCR-ABL1" EXACT [] synonym: "BCR-ABL1" RELATED [] synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(9;22)(Q34.1;Q11.2)" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2); BCR-ABL1" EXACT [] xref: ICDO:9812/3 xref: NCI:C80331 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080644 name: B-lymphoblastic leukemia/lymphoma MLL rearranged def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the KMT2A gene at 11q23.3 and another gene partner resulting in the production of a KMT2A related fusion protein. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80342 "DO"] synonym: "B-ALL KMT2A rearranged" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma KMT2A rearranged" EXACT [] synonym: "B lymphoblastic leukemia/lymphoma with t(v;11q23); MLL rearranged" EXACT [] synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(V;11Q23.3)" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(v;11q23.3);KMT2A rearranged" EXACT [] synonym: "KMT2A rearranged" RELATED [] synonym: "MIXED PHENOTYPE ACUTE LEUKEMIA WITH T(V;11Q23.3)" EXACT [] synonym: "precursor B lymphoblastic lymphoma/leukemia with T(V;11Q23.3)" EXACT [] xref: ICDO:9813/3 xref: NCI:C80342 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080645 name: B-lymphoblastic leukemia/lymphoma with ETV6-RUNX1 def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the TEL gene on chromosome 12 and the AML1 gene on chromosome 21, (p13.2;q22.1). It results in the production of the TEL-AML1 (ETV6-RUNX1) fusion protein. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80343 "DO"] synonym: "B-ALL with ETV6-RUNX1" EXACT [] synonym: "B LYMPHOBLASTIC LEUKEMIA/LYMPHOMA WITH T(12;21)(P13.2;Q22.1)" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with T(12;21)(P13;Q22)" EXACT [] synonym: "ETV6-RUNX1" RELATED [] synonym: "precursor B lymphoblastic lymphoma/leukemia with T(12;21)(P13;Q22)" EXACT [] synonym: "TEL-AML1 (ETV6-RUNX1)" RELATED [] xref: ICDO:9814/3 xref: NCI:C80343 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2019-06-25T12:14:21Z [Term] id: DOID:0080646 name: B-lymphoblastic leukemia/lymphoma with hyperdiploidy def: "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain more than 50 and usually less than 66 chromosomes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80335 "DO"] synonym: "B-ALL with hyperdiploidy" EXACT [] synonym: "precursor B lymphoblastic lymphoma/leukemia with hyperdiploidy" EXACT [] xref: ICDO:9815/3 xref: NCI:C80335 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080647 name: B-lymphoblastic leukemia/lymphoma with hypodiploidy def: "A B-lymphoblastic leukemia/lymphoma that is composed of B-lymphoblasts which contain less than 46 chromosomes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80338 "DO"] synonym: "B-ALL with hypodiploidy" EXACT [] xref: ICDO:9816/3 xref: NCI:C80338 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080648 name: B-lymphoblastic leukemia/lymphoma with IL3-IGH def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the IL3 gene on chromosome 5 and the IGH locus on chromosome 14, (q31.1;q32.3). (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80346 "DO"] synonym: "B-ALL with IL3-IGH" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) IL3-IGH" EXACT [] xref: ICDO:9817/3 xref: NCI:C80346 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080649 name: B-lymphoblastic leukemia/lymphoma with TCF3-PBX1 def: "A B-lymphoblastic leukemia/lymphoma that is characterized by the presence of lymphoblasts that carry a translocation between the E2A gene on chromosome 19 and the PBX1 gene on chromosome 1. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C80347 "DO"] synonym: "B Acute Lymphoblastic Leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)" EXACT [] synonym: "B-ALL with TCF3-PBX1" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3);TCF3-PBX1" EXACT [] xref: ICDO:9818/3 xref: NCI:C80347 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080650 name: B-lymphoblastic leukemia/lymphoma, BCR-ABL1-like is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080651 name: B-lymphoblastic leukemia/lymphoma with iAMP21 def: "A B-lymphoblastic leukemia/lymphoma that is characterized by amplification of a portion of chromosome 21. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C130039 "DO"] synonym: "B-ALL with iAMP21" EXACT [] synonym: "B-lymphoblastic leukemia/lymphoma with intrachromosomal amplification of chromosome 21" EXACT [] synonym: "Intrachromosomal amplification of chromosome 21 (iAMP21)" EXACT [] synonym: "precursor B lymphoblastic lymphoma/leukemia with intrachromosomal amplification of chromosome 21" EXACT [] xref: NCI:C130039 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:0080652 name: calcium oxalate nephrolithiasis def: "A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16570061 "DO"] synonym: "calcium oxalate urolithiasis" EXACT [] synonym: "CAON" EXACT [] xref: EFO:0009065 xref: MESH:C563477 xref: MIM:PS167030 is_a: DOID:585 ! nephrolithiasis [Term] id: DOID:0080653 name: urolithiasis alt_id: DOID:9001149 alt_id: OMIA:001033 def: "A urinary system disease that is characterized by the formation of stony concretions in the bladder or urinary tract. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3126068/ "DO"] synonym: "urinary lithiasis" EXACT [] xref: MESH:D052878 xref: NCI:C114688 is_a: DOID:18 ! urinary system disease created_by: mtutaj creation_date: 2019-03-21T14:26:54Z [Term] id: DOID:0080654 name: uric acid urolithiasis def: "An urolithiasis in which the composition of the stones is predominantly urate. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC290947/pdf/jcinvest00312-0142.pdf "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5512151/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/14036165 "DO"] xref: MIM:191700 is_a: DOID:0080653 ! urolithiasis [Term] id: DOID:0080655 name: hypophosphatemic nephrolithiasis/osteoporosis def: "A kidney disease that is characterized by formation of renal calcium\nstones or bone demineralization. (DO)" [https://www.nejm.org/doi/full/10.1056/NEJMoa020028 "DO"] xref: MIM:PS612286 is_a: DOID:0050336 ! hypophosphatemia is_a: DOID:0080652 ! calcium oxalate nephrolithiasis is_a: DOID:11476 ! osteoporosis is_a: DOID:557 ! kidney disease created_by: mtutaj creation_date: 2019-12-16T09:54:24Z [Term] id: DOID:0080656 name: 45,X/46,XY mixed gonadal dysgenesis def: "A mixed gonadal dysgenesis that is characterized by asymmetrical gonadal development in an individual with mosaic karyotype 45,X/46,XY. (DO)" [https://en.wikipedia.org/wiki/45\,X/46\,XY_mosaicism "DO"] xref: ORDO:1772 is_a: DOID:14449 ! mixed gonadal dysgenesis created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:0080661 name: nonsyndromic aplasia cutis congenita def: "A skin disease characterized by localized areas of missing skin that resemble ulcers or oopen wounds in new borns and that has_material_basis_in heterozygous mutation in the BMS1 gene on chromosome 10q11. (DO)" [https://ghr.nlm.nih.gov/condition/nonsyndromic-aplasia-cutis-congenita "DO", https://www.ncbi.nlm.nih.gov/pubmed/9415483 "DO"] xref: MIM:107600 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0080662 name: atrial standstill 1 alt_id: MIM:108770 def: "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and that has_material_basis_in coinheritance of a variant in the SCN5A gene in combination with a rare connexin-40 genotype. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16176547 "DO"] synonym: "Atrial Cardiomyopathy with Heart Block" EXACT [] synonym: "Atrial Standstill" EXACT [] synonym: "Atrial Standstill 1, Digenic" EXACT [] synonym: "ATRST1" EXACT [] synonym: "familial cardiomyopathy with conduction disturbance" EXACT [] xref: MESH:C563984 xref: ORDO:1344 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:9002195 ! Atrial Dilation and Standstill is_a: DOID:9003163 ! Heart Block created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:0080663 name: atrial standstill 2 def: "A heart conduction disease that is characterized by a transient or permanent absence of electrical and mechanical atrial activity and has_material_basis_in homozygous mutation in the NPPA gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16176547 "DO"] synonym: "ATRST2" EXACT [] synonym: "NPPA-RELATED CONDITION" BROAD [] xref: MIM:615745 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:9002195 ! Atrial Dilation and Standstill [Term] id: DOID:0080664 name: diaphyseal medullary stenosis with malignant fibrous histiocytoma alt_id: MESH:C536104 alt_id: MIM:112250 def: "An osteochondrodysplasia that is characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis and that has_material_basis_in heterozygous mutation in the MTAP gene on chromosome 9p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8781110 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22464254 "DO"] synonym: "BDMF" EXACT [] synonym: "bone dysplasia-medullary fibrosarcoma syndrome" EXACT [] synonym: "bone dysplasia with malignant fibrous histiocytoma" EXACT [] synonym: "bone dysplasia with medullary fibrosarcoma" EXACT [] synonym: "diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome" EXACT [] synonym: "DMSMFH" EXACT [] synonym: "Hardcastle syndrome" EXACT [] synonym: "limb-girdle myopathy with bone fragility" EXACT [] xref: GARD:10072 xref: MESH:C536169 xref: NCI:C122660 xref: ORDO:85182 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11724 ! limb-girdle muscular dystrophy is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:4415 ! fibrous histiocytoma is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:0080665 name: warfarin resistance alt_id: MIM:122700 def: "An inherited metabolic disorder that is characterized by a high tolerance for the drug warfarin. (DO)" [https://ghr.nlm.nih.gov/condition/warfarin-resistance "DO"] synonym: "Coumarin Resistance" EXACT [] synonym: "poor metabolism of coumarin" EXACT [] xref: GARD:12721 xref: MESH:C563039 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0080666 name: warfarin sensitivity def: "An inherited metabolic disorder that is characterized by a low tolerance for the drug warfarin. (DO)" [https://ghr.nlm.nih.gov/condition/warfarin-sensitivity#inheritance "DO"] synonym: "coumarin sensitivity" EXACT [] xref: MESH:C567080 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder created_by: mtutaj creation_date: 2019-03-21T11:14:20Z [Term] id: DOID:0080667 name: spinal muscular atrophy type 0 def: "A childhood spinal muscular atrophy that is evident before birth and characterized by diminished movement in the womb, joint deformities, extremely weak muscle tone and very weak respiratory muscles. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/?term=10700538 "DO"] synonym: "very severe spinal muscular atrophy" EXACT [] is_a: DOID:0060160 ! childhood spinal muscular atrophy [Term] id: DOID:0080669 name: posterior polymorphous corneal dystrophy 4 def: "A posterior polymorphous corneal dystrophy that is characterized by an irregular posterior corneal surface with occasional opacities of variable size and shape and that has_material_basis_in heterozygous mutation in the GRHL2 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29499165/ "DO"] synonym: "PPCD4" EXACT [] xref: MIM:618031 xref: MONDO:0054832 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy created_by: slaulede creation_date: 2018-07-10T00:00:00Z [Term] id: DOID:0080670 name: Meesmann corneal dystrophy 1 def: "A Messmann corneal dystrophy that is characterized by the presence of multitudinous microcysts within the anterior epithelium and that has_material_basis_in heterozygous mutation in the KRT12 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22174841/ "DO"] synonym: "MECD1" EXACT [] xref: MIM:122100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060451 ! Meesmann corneal dystrophy created_by: slaulede creation_date: 2019-07-01T10:42:57Z [Term] id: DOID:0080671 name: Meesmann corneal dystrophy 2 def: "A Messmann corneal dystrophy that is characterized by fragility of the anterior corneal epithelium and the presence of intraepithelial microcysts and that has_material_basis_in heterozygous mutation in the KRT3 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18806880/ "DO"] synonym: "MECD2" EXACT [] xref: MIM:618767 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060451 ! Meesmann corneal dystrophy [Term] id: DOID:0080672 name: fibrochondrogenesis 1 def: "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21035103/ "DO"] synonym: "FBCG1" EXACT [] xref: MIM:228520 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060465 ! fibrochondrogenesis created_by: slaulede creation_date: 2019-08-16T13:47:28Z [Term] id: DOID:0080673 name: fibrochondrogenesis 2 def: "A fibrochondrogenesis that has_material_basis_in homozygous or heterozygous mutation in the COL11A2 gene on chromosome 6p21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22246659/ "DO"] synonym: "FBCG2" EXACT [] xref: MIM:614524 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060465 ! fibrochondrogenesis [Term] id: DOID:0080674 name: luminal breast carcinoma B def: "A breast carcinoma that is characterized by low to moderate expression of genes characteristic of luminal epithelial cells including estrogen receptor (ER), and high expression of GGH, LAPTM4B, and CCNE1. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4167319/ "DO"] synonym: "breast tumor luminal" BROAD [] xref: NCI:C53555 is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:0080675 name: Stickler syndrome 2 alt_id: MIM:604841 def: "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL11A1 gene on chromosome 1p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15286167/ "DO"] synonym: "Stickler syndrome, beaded vitreous type" EXACT [] synonym: "Stickler syndrome, type 2" EXACT [] synonym: "Stickler Syndrome, Type II" EXACT [] synonym: "Stickler syndrome, vitreous type 2" EXACT [] synonym: "STL2" EXACT [] xref: MESH:C537493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080046 ! Stickler syndrome is_a: DOID:9726 ! vitreous detachment [Term] id: DOID:0080676 name: Stickler syndrome 1 alt_id: MIM:108300 alt_id: OMIA:001522 def: "A Stickler syndrome that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21671392/ "DO"] synonym: "AOM" EXACT [] synonym: "hereditary arthro-ophthalmo-dystrophy" EXACT [] synonym: "hereditary arthro-ophthalmopathy" EXACT [] synonym: "hereditary progressive arthroophthalmopathy" EXACT [] synonym: "Oculoskeletal dysplasia 1" EXACT [] synonym: "Stickler dysplasia" EXACT [] synonym: "Stickler syndrome, membranous vitreous type" EXACT [] synonym: "Stickler syndrome, type 1" EXACT [] synonym: "Stickler syndrome, type I" EXACT [] synonym: "Stickler syndrome, vitreous type 1" EXACT [] synonym: "STL1" EXACT [] xref: MESH:C537492 xref: NCI:C168733 xref: ORDO:90653 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080046 ! Stickler syndrome created_by: mtutaj creation_date: 2019-03-21T15:15:35Z [Term] id: DOID:0080677 name: otospondylomegaepiphyseal dysplasia, autosomal dominant alt_id: MIM:184840 def: "An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15372529/ "DO"] synonym: "Heterozygous Osmed" EXACT [] synonym: "Heterozygous Otospondylomegaepiphyseal Dysplasia" EXACT [] synonym: "OSMEDA" EXACT [] synonym: "Pierre Robin Syndrome with Fetal Chondrodysplasia" EXACT [] synonym: "Stickler syndrome nonocular type" EXACT [] synonym: "Stickler syndrome, type 3" EXACT [] synonym: "Stickler syndrome, type III" EXACT [] synonym: "STL3" EXACT [] synonym: "Weissenbacher-Zweymuller syndrome, autosomal recessive" EXACT [] xref: MESH:C535776 xref: MESH:C537494 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080046 ! Stickler syndrome is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome [Term] id: DOID:0080678 name: mucolipidosis III gamma alt_id: MIM:252605 def: "A mucolipidosis that has_material_basis_in mutation in the gene encoding the gamma subunit of N-acetylglucosamine-1-phosphotransferase and that is characterized by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10712439/ "DO"] synonym: "ML IIIC" EXACT [] synonym: "ML III gamma" EXACT [] synonym: "Mucolipidosis IIIC" EXACT [] synonym: "Mucolipidosis III, Complementation Group C" EXACT [] synonym: "Mucolipidosis III, Iranian Variant Form" EXACT [] synonym: "Mucolipidosis III, Variant Form" EXACT [] synonym: "mucolipidosis type III gamma" EXACT [] xref: MESH:C565367 xref: NCI:C129978 xref: ORDO:423470 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080488 ! mucolipidosis is_a: DOID:3343 ! glycoproteinosis created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:0080679 name: neuronal intestinal dysplasia type A def: "An intestinal pseudo-obstruction that is characterized by congenital hypoplasia or aplasia of the sympathetic innervation of the intestine. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8882403/ "DO"] synonym: "ARGYROPHIL MYENTERIC PLEXUS, DEFICIENCY OF" RELATED [] synonym: "INTESTINAL PSEUDOOBSTRUCTION DUE TO NEURONAL DISEASE" RELATED [] synonym: "NID A" EXACT [] synonym: "PSEUDOOBSTRUCTION, CHRONIC IDIOPATHIC INTESTINAL, NEURONAL TYPE" RELATED [] synonym: "VISCERAL NEUROPATHY, FAMILIAL, 1, AUTOSOMAL RECESSIVE" RELATED [] synonym: "VSCN1" RELATED [] xref: MIM:243180 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:9000473 ! Familial Visceral Neuropathy [Term] id: DOID:0080680 name: neuronal intestinal dysplasia type B def: "An intestinal pseudo-obstruction that is affects the parasympathetic submucous plexus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8882403/ "DO"] synonym: "NID B" EXACT [] xref: MIM:601223 is_a: DOID:0080072 ! intestinal pseudo-obstruction [Term] id: DOID:0080681 name: X-linked chronic idiopathic intestinal pseudo-obstruction def: "An intestinal pseudo-obstruction that has_material_basis_in mutations in the FLNA gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8644737/ "DO"] synonym: "CIIP" EXACT [] synonym: "CIIPX" EXACT [] synonym: "CIIP, X-LINKED" EXACT [] synonym: "Congenital Idiopathic Intestinal Pseudoobstruction" EXACT [] synonym: "CONGENITAL SHORT BOWEL SYNDROME, X-LINKED" RELATED [] synonym: "Intestinal pseudoobstruction chronic idiopathic" EXACT [] synonym: "Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, with Central Nervous System Involvement" EXACT [] synonym: "IPOX" EXACT [] synonym: "neuronal intestinal pseudoobstruction, chronic idiopathic, X-linked" EXACT [] xref: GARD:3017 xref: MESH:C535532 xref: MIM:300048 xref: MONDO:0010232 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080072 ! intestinal pseudo-obstruction created_by: mtutaj creation_date: 2019-12-16T09:58:41Z [Term] id: DOID:0080682 name: autosomal dominant familial visceral neuropathy alt_id: MIM:609629 def: "An intestinal pseudo-obstruction that is inherited as an autosomal dominant trait. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16088914/ "DO"] synonym: "familial enteric neuropathy" EXACT [] synonym: "familial visceral neuropathy3, autosomal dominant" EXACT [] synonym: "idiopathic intestinal pseudoobstruction" EXACT [] synonym: "neuropathic chronic intestinal pseudoobstruction" EXACT [] synonym: "VSCN3" EXACT [] xref: MESH:C566502 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000473 ! Familial Visceral Neuropathy is_a: DOID:9002025 ! Familial Visceral Myopathy [Term] id: DOID:0080683 name: nonsyndromic congenital nail disorder def: "A nail disease that is characterized by underdevelopment of nails. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26149975/ "DO"] xref: MIM:PS161050 is_a: DOID:0080015 ! physical disorder is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:0080684 name: diffuse midline glioma, H3 K27M-mutant def: "A histone mutated tumor that is characterized by the presence of histone H3 K27M mutation located throughout the midline structures of the central nervous system. (DO)" [https://braintumor.org/wp-content/assets/WHO-Central-Nervous-System-Tumor-Classification.pdf "DO", https://pubmed.ncbi.nlm.nih.gov/31290035/ "DO", https://www.frontiersin.org/articles/10.3389/fonc.2019.00031/full "DO"] xref: EFO:1000026 xref: NCI:C129309 xref: NCI:C94764 is_a: DOID:0080879 ! histone mutated tumor is_a: DOID:4202 ! brain stem glioma is_a: DOID:9004158 ! diffuse intrinsic pontine glioma created_by: slaulede creation_date: 2020-02-06T00:00:00Z [Term] id: DOID:0080685 name: aortic dissection def: "An aortic disease that is characterized by tearing of the intimal layer of the aorta resulting in separation of the layers of the aortic wall. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK441963/ "DO"] synonym: "acute aortic dissection" EXACT [] synonym: "acute aortic dissections" EXACT [] synonym: "aortic dissections" EXACT [] synonym: "ASCENDING AORTIC DISSECTION" NARROW [] synonym: "DESCENDING AORTIC DISSECTION" NARROW [] xref: NCI:C50461 is_a: DOID:520 ! aortic disease [Term] id: DOID:0080686 name: tubular aggregate myopathy 2 def: "A myopathy that is characterized by the presence of tubular aggregates in myofibrils and has_material_basis_in heterozygous mutation in the ORAI1 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5133946/ "DO"] synonym: "ORAI1-RELATED CONDITION" BROAD [] synonym: "TAM2" EXACT [] xref: MIM:615883 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002092 ! Tubular Aggregate Myopathies created_by: mtutaj creation_date: 2019-02-08T14:29:12Z [Term] id: DOID:0080687 name: reducing body myopathy 1B alt_id: MIM:300718 def: "A myopathy that is characterized by by the presence of intracytoplasmic inclusion bodies strongly stained by menadione-linked alpha-glycerophosphate dehydrogenase in the absence of substrate, alpha-glycerophosphate, with late childhood or adult onset, and that has_material_basis_in mutation in the FHL1 gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18952429/ "DO"] synonym: "RBMX1B" EXACT [] synonym: "REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET" EXACT [] synonym: "reducing body myopathy, X-linked, childhood-onset" EXACT [] xref: MESH:C567468 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9002604 ! Reducing Body Myopathies [Term] id: DOID:0080688 name: mosaic variegated aneuploidy syndrome def: "A syndrome that is characterized by cell mosaicism where at least one-quarter of cells have an abnormal number of chromosomes. (DO)" [https://ghr.nlm.nih.gov/condition/mosaic-variegated-aneuploidy-syndrome "DO"] synonym: "mosaic variegated aneuploidy syndromes" EXACT [] xref: GARD:3007 xref: MESH:C536987 xref: MIM:PS257300 xref: ORDO:1052 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2019-09-27T09:06:13Z [Term] id: DOID:0080689 name: mosaic variegated aneuploidy syndrome 3 def: "A mosaic variegated aneuploidy syndrome that has_material_basis_in homozygous mutation in the TRIP13 gene on chromosome 5p15 that results in no detectable TRIP13 protein. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28553959/ "DO"] synonym: "MVA3" EXACT [] xref: MIM:617598 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome [Term] id: DOID:0080690 name: RASopathy alt_id: DOID:9003333 def: "A syndrome that has_material_basis_in mutations in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction. (DO)" [https://en.wikipedia.org/wiki/RASopathy "DO", https://www.nature.com/articles/jhg2015114 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4115674/ "DO"] synonym: "RAS/mitogen-activated protein kinase syndrome" EXACT [] synonym: "RASopathies" EXACT [] xref: EFO:1001502 is_a: DOID:225 ! syndrome [Term] id: DOID:0080691 name: Noonan syndrome-like disorder with loose anagen hair def: "A RASopathy that is characterized by macrocephaly, high forehead, wide-set eyes or hypertelorism, palpebral ptosis, and low-set and posteriorly rotated ears, pluckable, sparse, thin and slow-growing hair, frequent congenital heart defects, darkly pigmented skin with eczema or ichthyosis, short stature and developmental delay. (DO)" [https://rarediseases.info.nih.gov/diseases/10719/disease "DO"] synonym: "Noonan-like syndrome with loose anagen hair" EXACT [] xref: GARD:10719 xref: MESH:C564342 xref: MIM:PS607721 xref: ORDO:2701 is_a: DOID:0080690 ! RASopathy is_a: DOID:0111702 ! loose anagen hair syndrome is_a: DOID:9003091 ! Noonan Like Syndrome [Term] id: DOID:0080692 name: Noonan syndrome-like disorder with loose anagen hair 1 def: "A Noonan-like syndrome with loose anagen hair that has_material_basis_in heterozygous mutation in the SHOC2 gene on chromosome 10q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25137548/ "DO", https://pubmed.ncbi.nlm.nih.gov/30329053/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC4213265/ "DO"] synonym: "Mazzanti syndrome" EXACT [] synonym: "NSLH" EXACT [] synonym: "NSLH1" EXACT [] synonym: "SHOC2-RELATED CONDITION" EXACT [] synonym: "Tosti syndrome" EXACT [] xref: MIM:607721 is_a: DOID:0080691 ! Noonan syndrome-like disorder with loose anagen hair created_by: mtutaj creation_date: 2019-02-12T10:18:13Z [Term] id: DOID:0080693 name: Noonan syndrome-like disorder with loose anagen hair 2 def: "A Noonan syndrome-like disorder with loose anagen hair that has_material_basis_in heterozygous mutation in the PPP1CB gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27264673/ "DO", https://pubmed.ncbi.nlm.nih.gov/28211982/ "DO"] synonym: "NSLH2" EXACT [] synonym: "PPP1CB-RELATED CONDITION" EXACT [] xref: MIM:617506 is_a: DOID:0080691 ! Noonan syndrome-like disorder with loose anagen hair [Term] id: DOID:0080694 name: Galloway-Mowat syndrome alt_id: DOID:0060364 alt_id: MESH:C537311 def: "A syndrome that is characterized by developmental delay, progressive microcephaly, cerebral and cerebellar atrophy with extrapyramidal involvement, and optic atrophy. (DO)" [https://en.wikipedia.org/wiki/Galloway_Mowat_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/20083416/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26123727 "DO"] synonym: "CAMOS" EXACT [] synonym: "cerebellar ataxia with mental retardation, optic atrophy, and skin abnormalities" EXACT [] synonym: "Galloway syndrome" EXACT [] synonym: "GAMOS" EXACT [] synonym: "microcephaly, hiatal hernia and nephrotic syndrome" EXACT [] synonym: "microcephaly, hiatus hernia, and nephrotic syndrome" EXACT [] synonym: "nephrosis-microcephaly syndrome" EXACT [] synonym: "nephrosis-neuronal dysmigration syndrome" EXACT [] xref: GARD:65 xref: MESH:C537548 xref: MIM:PS251300 xref: NCI:C132195 xref: ORDO:2065 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:12642 ! hiatus hernia is_a: DOID:225 ! syndrome is_a: DOID:2527 ! nephrosis is_a: DOID:9277 ! primary cerebellar degeneration created_by: gthayman creation_date: 2019-03-20T00:00:00Z [Term] id: DOID:0080695 name: Burn-McKeown syndrome alt_id: MIM:608572 def: "A syndrome that is characterized by bilateral choanal atresia, cranio-facial dysmorphism,\nhearing loss, heart abnormalities, and short stature. (DO)" [https://ghr.nlm.nih.gov/condition/burn-mckeown-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK373577/ "DO"] synonym: "bilateral choanal atresia, cardiac defects, deafness, and dysmorphic appearance" EXACT [] synonym: "BMKS" EXACT [] synonym: "choanal atresia - deafness - cardiac defects - dysmorphism syndrome" EXACT [] xref: GARD:10041 xref: MESH:C537411 xref: ORDO:1200 is_a: DOID:225 ! syndrome is_a: DOID:9001156 ! Oculootofacial Dysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9008681 ! Deafness is_a: DOID:9574 ! choanal atresia [Term] id: DOID:0080696 name: Winchester syndrome def: "A syndrome that is characterized by a loss of bone tissue particularly in the hands and feet. (DO)" [https://ghr.nlm.nih.gov/condition/winchester-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/29741626/ "DO"] synonym: "Winchester disease" EXACT [] synonym: "Winchester-Grossman disease" EXACT [] synonym: "Winchester-Grossman syndrome" EXACT [] synonym: "WNCHRS" EXACT [] xref: GARD:7894 xref: MESH:C536709 xref: MIM:277950 xref: MONDO:0010201 xref: NCI:C170731 is_a: DOID:11476 ! osteoporosis is_a: DOID:225 ! syndrome is_a: DOID:9006081 ! Osteolysis is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:0080697 name: Opitz GBBB syndrome alt_id: DOID:0050780 alt_id: MIM:300000 def: "A syndrome that is a congenital midline malformation syndrome that is characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects and that has_material_basis_in mutation in the MID1 gene on chromosome Xp22. (DO)" [http://www.genome.jp/dbget-bin/www_bget?ds\:H00583 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1327/ "DO", http://www.ncbi.nlm.nih.gov/books/NBK1523/ "DO", https://ghr.nlm.nih.gov/condition/opitz-g-bbb-syndrome "DO", https://medlineplus.gov/genetics/condition/opitz-g-bbb-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/15558842/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1327/ "DO"] synonym: "BBBG1" EXACT [] synonym: "GBBB1" EXACT [] synonym: "GBBB syndrome" EXACT [] synonym: "hypertelorism-hypospadias sydrome" EXACT [] synonym: "hypertelorism with esophageal abnormalities and hypospadias" EXACT [] synonym: "hypertelorism with esophageal abnormality and hypospadias" EXACT [] synonym: "OGS1" EXACT [] synonym: "Opitz BBB-G syndrome" EXACT [] synonym: "Opitz BBBG syndrome" EXACT [] synonym: "Opitz BBBG syndrome, type I" EXACT [] synonym: "Opitz G/BBB syndrome" EXACT [] synonym: "Opitz GBBB syndrome type I" EXACT [] synonym: "Opitz GBBB syndrome, X-linked" EXACT [] synonym: "Opitz-G syndrome, type I" EXACT [] synonym: "Opitz Syndrome" EXACT [] synonym: "OS" EXACT [] synonym: "OSX" EXACT [] synonym: "telecanthus-hypospadias syndrome" EXACT [] synonym: "X-linked Opitz syndrome" EXACT [] synonym: "X-linked Opitz syndrome (XLOS)" EXACT [] xref: GARD:193 xref: MESH:C567932 xref: NCI:C125487 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10892 ! hypospadias is_a: DOID:674 ! cleft palate is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9003591 ! Telecanthus created_by: mtutaj creation_date: 2019-03-26T00:00:00Z [Term] id: DOID:0080698 name: Teebi hypertelorism syndrome 1 alt_id: DOID:9003103 def: "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the SPECC1L gene on chromosome 22q11.2 or heterozygous deletion at chromosome 22q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25412741/ "DO", https://pubmed.ncbi.nlm.nih.gov/30472488/ "DO", https://pubmed.ncbi.nlm.nih.gov/31953237/ "DO"] synonym: "autosomal dominant Opitz syndrome (ADOS)" EXACT [] synonym: "BBB syndrome" EXACT [] synonym: "chromosome 22q11.2 deletion syndrome, Opitz phenotype" EXACT [] synonym: "GBBB2" EXACT [] synonym: "G SYNDROME" EXACT [] synonym: "Hypospadias-Dysphagia Syndrome" EXACT [] synonym: "OGS2" EXACT [] synonym: "Opitz BBB Syndrome" EXACT [] synonym: "Opitz-Frias syndrome" EXACT [] synonym: "Opitz GBBB syndrome, autosomal dominant" EXACT [] synonym: "Opitz GBBB syndrome type II" EXACT [] synonym: "Opitz G syndrome" EXACT [] synonym: "Opitz-G syndrome, type 2" EXACT [] synonym: "Opitz-G syndrome, type II" EXACT [] synonym: "Opitz oculogenitolaryngeal syndrome, type II" EXACT [] synonym: "SPECC1L-RELATED CONDITION" BROAD [] synonym: "SPECC1L-related hypertelorism syndrome" EXACT [] synonym: "TBHS1" EXACT [] synonym: "telecanthus with associated abnormalities" EXACT [] xref: MESH:C538387 xref: MIM:145420 xref: ORDO:1519 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081073 ! Teebi hypertelorism syndrome created_by: mtutaj creation_date: 2020-02-05T15:44:29Z [Term] id: DOID:0080699 name: glutathione synthetase deficiency def: "An amino acid metabolic disorder characterized by the lack of glutathione production. (DO)" [https://ghr.nlm.nih.gov/condition/glutathione-synthetase-deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/31198081/ "DO"] synonym: "5-oxoprolinemia" EXACT [] synonym: "5-oxoprolinuria" EXACT [] synonym: "deficiency of glutathione synthase" EXACT [] synonym: "deficiency of glutathione synthetase" EXACT [] synonym: "GSSD" EXACT [] synonym: "INHERITED GLUTATHIONE SYNTHETASE DEFICIENCY" EXACT [] synonym: "pyroglutamic acidemia" EXACT [] synonym: "pyroglutamic aciduria" EXACT [] xref: GARD:10047 xref: MESH:C536835 xref: NCI:C128193 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0080700 name: caudal regression syndrome alt_id: MIM:600145 def: "A physical disorder that is characterized by impairment of the development of the lower half of the body. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30574238 "DO", https://www.ncbi.nlm.nih.gov/pubmed/32200015 "DO"] synonym: "agenesis of sacrum" EXACT [] synonym: "caudal dysgenesis syndrome" EXACT [] synonym: "caudal dysplasia sequence" EXACT [] synonym: "caudal regression sequence" EXACT [] synonym: "Hypoplasia of sacrum" EXACT [] synonym: "Lumbosacral agenesis" EXACT [] synonym: "SACRAL AGENESIS" NARROW [] synonym: "Sacral Defect and Anterior Sacral Meningocele" EXACT [] synonym: "Sacral defect anterior meningocele" EXACT [] synonym: "sacral defect with anterior meningocele" EXACT [] synonym: "SDAM caudal dysgenesis syndrome" NARROW [] synonym: "sirenomelia" NARROW [] xref: MESH:C537221 is_a: DOID:0080015 ! physical disorder is_a: DOID:1088 ! meningocele is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0080701 name: prothrombin thrombophilia def: "A thrombophilia that is characterized by increases the risk of blood clots including deep vein thrombosis and pulmonary embolism and that has_material_basis_in heterozygous mutation in the thrombin gene (F2 gene) on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21707594/ "DO"] synonym: "hyperprothrombinemia" EXACT [] synonym: "Prothrombin G20210a Thrombophilia" EXACT [] xref: MESH:C566755 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia created_by: mtutaj creation_date: 2019-02-13T13:16:05Z [Term] id: DOID:0080702 name: medulloblastoma WNT activated def: "A medulloblastoma that is characterized as a molecular subtype by activation of the WNT pathway and TP53 mutations may be present or absent. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29582169/ "DO", https://radiopaedia.org/articles/medulloblastoma-wnt-subgroup?lang=us "DO"] xref: ICDO:9475/3 xref: NCI:C129440 is_a: DOID:0050902 ! medulloblastoma created_by: mtutaj creation_date: 2020-04-23T10:15:56Z [Term] id: DOID:0080703 name: medulloblastoma SHH activated def: "A medulloblastoma that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and TP53 mutations that may be present or absent. (DO)" [https://onlinelibrary.wiley.com/doi/full/10.1002/acn3.762 "DO", https://pubmed.ncbi.nlm.nih.gov/29582169/ "DO", https://radiopaedia.org/articles/medulloblastoma-shh-subgroup?lang=us "DO"] xref: NCI:C129441 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:0080704 name: medulloblastoma SHH activated and TP53 mutant def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the presence of TP53 mutations. (DO)" [https://ascopubs.org/doi/10.1200/JCO.2012.48.5052 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5490254/ "DO"] xref: ICDO:9476/3 xref: NCI:C129442 is_a: DOID:0080703 ! medulloblastoma SHH activated created_by: rgd creation_date: 2016-10-18T00:00:00Z [Term] id: DOID:0080705 name: medulloblastoma SHH activated and TP53 wild-type def: "A medulloblastoma SHH activated that is characterized as a molecular subtype by activation of the sonic hedgehog (SHH) pathway and the absence of TP53 mutations. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4743072/ "DO"] synonym: "Medulloblastoma SHH-Activated TP53-Wildtype" EXACT [] xref: ICDO:9471/3 xref: NCI:C129443 is_a: DOID:0080703 ! medulloblastoma SHH activated [Term] id: DOID:0080706 name: medulloblastoma non-WNT/non-SHH def: "A medulloblastoma that is characterized as a molecular subtype that is not associated with activation of the WNT pathway or sonic hedgehog (SHH) pathway and TP53 mutations are absent. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30392813/ "DO"] xref: ICDO:9477/3 xref: NCI:C129444 is_a: DOID:0050902 ! medulloblastoma [Term] id: DOID:0080707 name: medulloblastoma non-WNT/non-SHH group 3 def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by absent TP53 mutations and MYC amplifications that may be present. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29427151/ "DO", https://pubmed.ncbi.nlm.nih.gov/30876441/ "DO"] xref: NCI:C129445 is_a: DOID:0080706 ! medulloblastoma non-WNT/non-SHH [Term] id: DOID:0080708 name: medulloblastoma non-WNT/non-SHH group 4 def: "A medulloblastoma non-WNT/non-SHH that is characterized as a molecular subtype by the absence of MYC amplifications and TP53 mutations, while chromosome 17 abnormalities may be present. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29427151/ "DO"] xref: NCI:C129446 is_a: DOID:0080706 ! medulloblastoma non-WNT/non-SHH [Term] id: DOID:0080709 name: NK cell deficiency def: "A primary immunodeficiency disease that results from defeciency in the number or function of CD56+CD3− NK cell in peripheral blood. (DO)" [https://www.frontiersin.org/articles/10.3389/fimmu.2019.01703/full "DO"] is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0080710 name: T cell and NK cell immunodeficiency def: "A primary immunodeficiency disease that involves multiple components of the immune system, including both T cell and NK cell immunodeficiency. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31257346/ "DO"] is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:0080711 name: multisystem inflammatory syndrome in children def: "A Coronavirus infectious disease that is characterized by a patient aged less than 21 years with fever, laboratory evidence of inflammation, and evidence of clinically severe illness requiring hospitalization, with multisystem organ involvement (cardiovascular, dermatologic, gastrointestinal, hematologic, neurologic, renal, or respiratory) who tested positive for SARS-CoV-2 or had exposure to COVID-19. (DO)" [https://www.cdc.gov/coronavirus/2019-ncov/daily-life-coping/children/mis-c.html "DO", https://www.cdc.gov/mis-c/hcp/ "DO", https://www.cdc.gov/mis-c/index.html "DO", https://www.cdc.gov/mmwr/volumes/69/wr/mm6932e2.htm?s_cid=mm6932e2_x "DO"] synonym: "MIS-C" EXACT [] synonym: "multisystem inflammatory disorder in children and adolescents" EXACT [] synonym: "paediatric inflammatory multisystemic syndrome" EXACT [] is_a: DOID:0080599 ! Coronavirus infectious disease created_by: slaulede creation_date: 2020-02-06T13:19:38Z [Term] id: DOID:0080712 name: gene duplication disease def: "A monogenic disease that is the result of a mutation that involves the production of one or more copies of a gene. (DO)" [https://www.genome.gov/genetics-glossary/Duplication "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656685/ "DO"] synonym: "gene duplication syndrome" EXACT [] is_a: DOID:0050177 ! monogenic disease created_by: gthayman creation_date: 2019-06-17T13:10:35Z [Term] id: DOID:0080714 name: hereditary alpha tryptasemia syndrome def: "A syndrome that is characterized by high blood tryptase levels and that has_material_basis_in inherited extra copies of the alpha tryptase gene (TPSAB1), effecting multiple organ systems including skin and connective tissues, the gastrointestinal and cardiovascular systems. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27749843/ "DO", https://pubmed.ncbi.nlm.nih.gov/30007465/ "DO", https://rarediseases.info.nih.gov/diseases/13193/hereditary-alpha-tryptasemia-syndrome "DO", https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq "DO"] xref: GARD:13193 is_a: DOID:0080712 ! gene duplication disease is_a: DOID:225 ! syndrome [Term] id: DOID:0080715 name: developmental and epileptic encephalopathy 82 def: "A developmental and epileptic encephalopathy characterized by onset of seizures in the first year of life, hypotonia, feeding difficulties, severely impaired intellectual development, and global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the GOT2 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31422819/ "DO"] synonym: "DEE82" EXACT [] synonym: "deficiency of mitochondrial glutamate oxaloacetate transaminase" EXACT [] synonym: "early infantile epileptic encephalopathy 82" EXACT [] synonym: "EIEE82" EXACT [] synonym: "GOT2 deficiency" EXACT [] xref: MIM:618721 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy [Term] id: DOID:0080716 name: infantile liver failure syndrome def: "A syndrome that is characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. (DO)" [https://rarediseases.info.nih.gov/diseases/13114/disease "DO"] xref: MIM:PS615438 xref: ORDO:370088 is_a: DOID:225 ! syndrome is_a: DOID:9004590 ! Acute Liver Failure created_by: mtutaj creation_date: 2020-03-27T12:02:54Z [Term] id: DOID:0080717 name: infantile liver failure syndrome 1 def: "An infantile liver failure syndrome that has_material_basis_in homozygous mutation in the LARS gene (LARS1) on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22607940/ "DO"] synonym: "acute infantile liver failure-multisystemic involvement syndrome" EXACT [] synonym: "ILFS1" EXACT [] synonym: "LARS1-RELATED CONDITION" EXACT [] xref: GARD:13114 xref: MIM:615438 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080716 ! infantile liver failure syndrome [Term] id: DOID:0080718 name: GNE myopathy alt_id: MESH:C538329 alt_id: MIM:605820 def: "A myopathy that is characterized by progressive skeletal muscle atrophy, distal muscle weakness and bilateral foot drop caused by weakness of the anterior tibialis muscles with onset in early adulthood, and that has_material_basis_in mutations in the GNE gene which encodes the rate-limiting enzyme of sialic acid biosynthesis. (DO)" [https://ghr.nlm.nih.gov/condition/inclusion-body-myopathy-2 "DO", https://pubmed.ncbi.nlm.nih.gov/29720219/ "DO", https://pubmed.ncbi.nlm.nih.gov/30338442/ "DO", https://rarediseases.org/rare-diseases/gne-myopathy/ "DO", https://www.genome.gov/Current-NHGRI-Clinical-Studies/GNE-Myopathy "DO"] synonym: "distal myopathy, Nonaka type" EXACT [] synonym: "DMRV" EXACT [] synonym: "IBM2" EXACT [] synonym: "inclusion body myopathy 2" EXACT [] synonym: "inclusion body myopathy 2, autosomal recessive" EXACT [] synonym: "inclusion body myopathy, autosomal recessive" EXACT [] synonym: "inclusion body myopathy, hereditary, autosomal recessive" EXACT [] synonym: "inclusion body myopathy, quadriceps sparing" EXACT [] synonym: "NM" EXACT [] synonym: "Nonaka distal myopathy" EXACT [] synonym: "Nonaka myopathy" EXACT [] synonym: "QSM" EXACT [] synonym: "rimmed vacuole myopathy" EXACT [] xref: GARD:9493 xref: MESH:C536816 xref: NCI:C176900 xref: ORDO:602 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11720 ! distal myopathy is_a: DOID:3429 ! inclusion body myositis [Term] id: DOID:0080719 name: congenital myopathy 6 def: "A congenital myopathy that is characterized by childhood onset of congenital joint contractures, external ophthalmoplegia, and proximal muscle weakness, and that has_material_basis_in heterozygous, compound heterozygous, or homozygous mutation in the gene encoding myosin heavy chain IIa ( (MYHC2A or MYH2) on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24193343/ "DO"] synonym: "CMYO6" EXACT [] synonym: "CMYP6" EXACT [] synonym: "congenital myopathy 6 with ophthalmoplegia" EXACT [] synonym: "hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome" EXACT [] synonym: "IBM3" EXACT [] synonym: "inclusion body myopathy 3" EXACT [] synonym: "inclusion body myopathy 3, autosomal dominant" EXACT [] synonym: "inclusion body myopathy, autosomal dominant" EXACT [] synonym: "inclusion body myopathy, dominant" EXACT [] synonym: "myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles" EXACT [] synonym: "MYPOP" EXACT [] synonym: "proximal myopathy and ophthalmoplegia" EXACT [] xref: GARD:9494 xref: MESH:C538330 xref: MESH:C565311 xref: MIM:605637 xref: MONDO:0011577 xref: ORDO:79091 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:3429 ! inclusion body myositis is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9006836 ! Contracture [Term] id: DOID:0080720 name: autosomal dominant congenital deafness with onychodystrophy alt_id: MIM:124480 def: "A syndrome that is characterized by autosomal dominant inheritance of congenital deafness and onychodystrophy and that has_material_basis_in heterozygous mutation in the ATP6V1B2 gene on chromosome 8p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28396750/ "DO"] synonym: "congenital deafness, and onychodystrophy, autosomal dominant" EXACT [] synonym: "DDOD" EXACT [] synonym: "DDOD syndrome" EXACT [] xref: GARD:4732 xref: MESH:C567274 xref: NCI:C175240 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9008681 ! Deafness is_a: DOID:9009007 ! Tooth Abnormalities created_by: rgd creation_date: 2018-01-17T14:42:54Z [Term] id: DOID:0080721 name: calvarial doughnut lesions with bone fragility alt_id: MIM:126550 def: "An osteochondrodysplasia that is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6483641/ "DO"] synonym: "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY AND SPONDYLOMETAPHYSEAL DYSPLASIA" NARROW [] synonym: "CALVARIAL DOUGHNUT LESIONS WITH BONE FRAGILITY WITH OR WITHOUT SPONDYLOMETAPHYSEAL DYSPLASIA" EXACT [] synonym: "CDL" EXACT [] synonym: "familial doughnut lesions of skull" EXACT [] xref: MESH:C565089 xref: ORDO:85192 is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2020-01-28T13:07:19Z [Term] id: DOID:0080722 name: Kenny-Caffey syndrome type 1 alt_id: MIM:244460 def: "A Kenny-Caffey syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TBCE gene, encoding tubulin-specific chaperone E, on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9806825/ "DO"] synonym: "KCS1" EXACT [] synonym: "Kenny-Caffey syndrome, autosomal recessive" EXACT [] synonym: "Kenny-Caffey syndrome, autosomal recessive form" EXACT [] synonym: "Kenny-Caffey syndrome, type I" EXACT [] xref: GARD:8367 xref: MESH:C537021 xref: ORDO:93324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080724 ! Kenny-Caffey syndrome created_by: slaulede creation_date: 2019-08-06T11:01:04Z [Term] id: DOID:0080723 name: Kenny-Caffey syndrome type 2 alt_id: MIM:127000 def: "A Kenny-Caffey syndrome that has_material_basis_in heterozygous mutation in the FAM111A gene on chromosome 11q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23996431/ "DO"] synonym: "autosomal dominant Kenny-Caffey syndrome" EXACT [] synonym: "dwarfism, cortical thickening of tubular bones, and transient hypocalcemia" EXACT [] synonym: "FAM111A-RELATED CONDITION" BROAD [] synonym: "KCS2" EXACT [] synonym: "Kenny-Caffey syndrome 2" EXACT [] synonym: "Kenny syndrome" EXACT [] xref: GARD:83 xref: MESH:C537020 xref: MONDO:0007478 xref: ORDO:93325 is_a: DOID:0080724 ! Kenny-Caffey syndrome is_a: DOID:0090109 ! autosomal dominant hypocalcemia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0080724 name: Kenny-Caffey syndrome def: "A syndrome that is characterized by growth retardation with proportionate short stature, cortical thickening and medullary stenosis of the long bones, delayed anterior fontanelle closure, hypocalcemia due to congenital hypoparathyroidism and facial dysmorphism, including prominent forehead, microphthalmia, and micrognathia. (DO)" [https://en.wikipedia.org/wiki/Kenny-Caffey_syndrome "DO"] synonym: "KCS" EXACT [] xref: MIM:PS127000 xref: ORDO:2333 is_a: DOID:225 ! syndrome is_a: DOID:4257 ! Caffey disease [Term] id: DOID:0080725 name: BASAN syndrome alt_id: MIM:129200 def: "An ectodermal dysplasia that is characterized by neonatal blisters and milia and congenital absence of dermatoglyphics on the hands and feet. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8340514/ "DO"] synonym: "ADERMATOGLYPHIA WITH CONGENITAL FACIAL MILIA AND ACRAL BLISTERS, DIGITAL CONTRACTURES, AND NAIL ABNORMALITIES" EXACT [] synonym: "ECTODERMAL DYSPLASIA, ABSENT DERMATOGLYPHIC PATTERN, CHANGES IN NAILS, AND SIMIAN CREASE" EXACT [] synonym: "ectodermal dysplasia, absent dermatoglyphics" EXACT [] xref: GARD:2336 xref: MESH:C537659 xref: ORDO:1658 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:0080726 name: Ehlers-Danlos syndrome classic type 2 alt_id: MIM:130010 def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the collagen alpha-2(V) gene on chromosome 2q31 and that is characterized by the absence of widened atrophic scars. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22696272/ "DO"] synonym: "COL5A2-RELATED CONDITION" EXACT [] synonym: "EDS2" EXACT [] synonym: "EDSCL2" EXACT [] synonym: "EDS II" EXACT [] synonym: "Ehlers-Danlos syndrome, mild classic type" EXACT [] synonym: "Ehlers-Danlos syndrome, MITIS type" EXACT [] synonym: "Ehlers-Danlos Syndrome Type 2" EXACT [] synonym: "Ehlers-Danlos Syndrome, Type 2 Atypical" EXACT [] synonym: "Ehlers-Danlos syndrome type II" EXACT [] xref: MESH:C536195 xref: NCI:C125697 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080727 name: Ehlers-Danlos syndrome arthrochalasia type 1 alt_id: MIM:130060 def: "An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18409203/ "DO"] synonym: "Arthrochalasis Multiplex Congenita" EXACT [] synonym: "EDS7A" EXACT [] synonym: "EDS VIIA" EXACT [] synonym: "EDS VII, Mutant Procollagen Type" EXACT [] synonym: "Ehlers-Danlos syndrome, arthrochalasia type" EXACT [] synonym: "Ehlers-Danlos syndrome, type 7A" EXACT [] synonym: "Ehlers-Danlos syndrome type VII, autosomal dominant" EXACT [] xref: MESH:C562625 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005449 ! Ehlers-Danlos Syndrome Type 7 [Term] id: DOID:0080728 name: Ehlers-Danlos syndrome arthrochalasia type 2 alt_id: DOID:9004487 alt_id: MESH:C565061 def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18409203/ "DO"] synonym: "EDS7B" EXACT [] synonym: "EDSARTH2" EXACT [] synonym: "EDS VIIB" EXACT [] synonym: "Ehlers-Danlos syndrome type VIIB, autosomal dominant" EXACT [] xref: MIM:617821 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005449 ! Ehlers-Danlos Syndrome Type 7 created_by: slaulede creation_date: 2020-03-13T00:00:00Z [Term] id: DOID:0080729 name: brittle cornea syndrome 2 def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the PRDM5 gene on chromosome 4q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "BCS2" EXACT [] xref: MIM:614170 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11343 ! scleral disease is_a: DOID:9005468 ! Brittle Cornea Syndrome [Term] id: DOID:0080730 name: Ehlers-Danlos syndrome cardiac valvular type alt_id: MIM:225320 def: "An Ehlers-Danlos syndrome that is characterized by severe problems with heart valves and that has_material_basis_in homozygous or compound heterozygous mutation in the COL1A2 gene on chromosome 7q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16816023/ "DO"] synonym: "cardiac valvular form of autosomal recessive Ehlers-Danlos syndrome" EXACT [] synonym: "cardiac valvular form of Ehlers-Danlos syndrome" EXACT [] synonym: "EDSCV" EXACT [] synonym: "Ehlers-Danlos Syndrome, Arthrochalasis Type" EXACT [] synonym: "Ehlers-Danlos syndrome, cardiac valvular form" EXACT [] synonym: "Ehlers-Danlos syndrome, cardiac valvular form, autosomal recessive" EXACT [] xref: MESH:C536200 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080731 name: Ehlers-Danlos syndrome classic-like 1 alt_id: MIM:606408 def: "An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "EDSCLL" EXACT [] synonym: "EDS due to TNX deficiency" EXACT [] synonym: "Ehlers-Danlos-like syndrome due to tenascin-X deficiency" EXACT [] synonym: "Ehlers-Danlos Syndrome Caused by Tenascin-X Deficiency" EXACT [] synonym: "Ehlers-Danlos syndrome, classic-like" EXACT [] synonym: "Ehlers-Danlos syndrome due to tenascin-X deficiency" EXACT [] synonym: "TNXB-RELATED CONDITION" BROAD [] synonym: "TNX deficiency" EXACT [] xref: MESH:C536193 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080732 name: Ehlers-Danlos syndrome classic-like 2 def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "EDSCLL2" EXACT [] xref: MIM:618000 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080733 name: Ehlers-Danlos syndrome dermatosparaxis type alt_id: MIM:225410 def: "An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "dermatosparaxis" EXACT [] synonym: "EDS7C" EXACT [] synonym: "EDS VIIC" EXACT [] synonym: "Ehlers-Danlos syndrome type VII, autosomal recessive" EXACT [] xref: MESH:C567527 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005449 ! Ehlers-Danlos Syndrome Type 7 created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080734 name: Ehlers-Danlos syndrome kyphoscoliotic type 1 alt_id: MESH:C536113 alt_id: MESH:C536198 def: "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, generalized joint laxity, scoliosis at birth, and scleral fragility and rupture of the ocular globe\nand that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lysyl hydroxylase (PLOD1) on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "cerebral gigantism nevo type" EXACT [] synonym: "EDS6" EXACT [] synonym: "EDS6A" EXACT [] synonym: "EDS VI" EXACT [] synonym: "EHLERS-DANLOS SYNDROME, HYDROXYLYSINE-DEFICIENT" EXACT [] synonym: "Ehlers-Danlos syndrome, kyphoscoliotic type" EXACT [] synonym: "EHLERS-DANLOS SYNDROME, OCULAR-SCOLIOTIC TYPE" EXACT [] synonym: "Ehlers-Danlos syndrome, oculoscoliotic type" EXACT [] synonym: "Ehlers-Danlos Syndrome Type 6" EXACT [] synonym: "Ehlers-Danlos syndrome, type 6 A" EXACT [] synonym: "Ehlers-Danlos Syndrome, Type VI" EXACT [] synonym: "Ehlers-Danlos Syndrome, Type VIA" EXACT [] synonym: "Nevo syndrome" EXACT [] xref: MIM:225400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome created_by: gthayman creation_date: 2019-06-11T16:46:42Z [Term] id: DOID:0080735 name: Ehlers-Danlos syndrome kyphoscoliotic type 2 def: "An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "EDSKMH" EXACT [] synonym: "EDSKSCL2" EXACT [] synonym: "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss" EXACT [] xref: MIM:614557 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080000 ! muscular disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9004998 ! Kyphoscoliosis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080736 name: Ehlers-Danlos syndrome musculocontractural type 1 alt_id: MIM:601776 def: "An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome" EXACT [] synonym: "adducted thumb-clubfoot syndrome" EXACT [] synonym: "adducted thumbs Dundar type" EXACT [] synonym: "ATCS" EXACT [] synonym: "distal arthrogryposis with peculiar facies and hydronephrosis" EXACT [] synonym: "Dundar syndrome" EXACT [] synonym: "EDS6B (formerly)" EXACT [] synonym: "EDSMC" EXACT [] synonym: "EDSMC1" EXACT [] synonym: "Ehlers-Danlos syndrome, type VIB (formerly)" EXACT [] xref: MESH:C000600608 xref: NCI:C168975 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome created_by: mtutaj creation_date: 2019-11-22T10:15:03Z [Term] id: DOID:0080737 name: Ehlers-Danlos syndrome musculocontractural type 2 def: "An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "EDSMC2" EXACT [] xref: MIM:615539 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:11836 ! clubfoot is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:9004014 ! Adducted Thumbs Syndrome created_by: slaulede creation_date: 2018-09-14T14:19:19Z [Term] id: DOID:0080738 name: Ehlers-Danlos syndrome spondylodysplastic type 1 alt_id: MIM:130070 def: "An Ehlers-Danlos syndrome that is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing and that has_material_basis_in homozygous or compound heterozygous mutation in the B4GALT7 gene on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23956117/ "DO"] synonym: "defective biosynthesis of PDS" EXACT [] synonym: "defective biosynthesis of proteodermatan sulfate" EXACT [] synonym: "dermatan sulfate proteoglycan" EXACT [] synonym: "EDSP1" EXACT [] synonym: "EDSSLA" EXACT [] synonym: "Ehlers-Danlos Syndrome, Progeroid Type, 1" EXACT [] synonym: "EHLERS-DANLOS SYNDROME WITH SHORT STATURE AND LIMB ANOMALIES" EXACT [] synonym: "Galactosyltransferase 1 deficiency" EXACT [] synonym: "Galactosyltransferase I Deficiency" EXACT [] synonym: "XGPT deficiency" EXACT [] synonym: "xylosylprotein 4-beta-galactosyltransferase deficiency" EXACT [] xref: MESH:C536201 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:0080739 name: Ehlers-Danlos syndrome spondylodysplastic type 3 alt_id: DOID:9002616 alt_id: MIM:612350 def: "An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18513683/ "DO"] synonym: "SCD-EDS" EXACT [] synonym: "SCDEDS" EXACT [] synonym: "spondylocheirodysplasia, Ehlers-Danlos syndrome-like" EXACT [] xref: MESH:C567340 is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0080740 name: Libman-Sacks endocarditis def: "An endocarditis that is characterized by Libman-Sacks vegetations, is common in patients with systemic lupus erythematosus and is commonly complicated with embolic cerebrovascular disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25807885/ "DO", https://pubmed.ncbi.nlm.nih.gov/30422459/ "DO"] synonym: "Libmann–Sachs, Endocarditis in systemic lupus erythematosus" EXACT [] xref: ICD10CM:M32.11 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:10314 ! endocarditis created_by: mtutaj creation_date: 2019-11-21T12:06:27Z [Term] id: DOID:0080741 name: limbic encephalitis alt_id: DOID:9000429 alt_id: MESH:C531729 def: "An encephalitis that is characterized by subacute onset of short-term memory deficits, seizures or psychiatric symptoms located_in the medial temporal lobes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6520067/ "DO"] synonym: "autoimmune limbic encephalitis" EXACT [] synonym: "paraneoplastic limbic encephalitides" EXACT [] synonym: "paraneoplastic limbic encephalitis" EXACT [] xref: GARD:8742 xref: MESH:D020363 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:9003736 ! Central Nervous System Viral Diseases is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes is_a: DOID:9588 ! encephalitis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080742 name: autoimmune cholangitis def: "An autoimmune hepatitis that is characterized by primary biliary cirrhosis clinical, biochemical, and histologic characteristics with antinuclear antibody positive sera. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15560034/ "DO", https://pubmed.ncbi.nlm.nih.gov/25374727/ "DO"] synonym: "autoimmune cholangiopathy" EXACT [] is_a: DOID:2048 ! autoimmune hepatitis is_a: DOID:9446 ! cholangitis created_by: slaulede creation_date: 2018-04-18T11:50:33Z [Term] id: DOID:0080743 name: transverse myelitis def: "A myelitis that is characterized by a band-like sensation across the trunk of the body, with sensory changes below. (DO)" [https://www.mayoclinic.org/diseases-conditions/transverse-myelitis/symptoms-causes/syc-20354726 "DO", https://www.ninds.nih.gov/health-information/disorders/transverse-myelitis "DO"] synonym: "acute transverse myelitis" EXACT [] synonym: "Demyelinative Myelitis" EXACT [] synonym: "IDIOPATHIC TRANSVERSE MYELITIS" NARROW [] synonym: "Necrotizing Myelitis" EXACT [] synonym: "Paraneoplastic Myelitis" EXACT [] synonym: "Postinfectious Myelitis" EXACT [] synonym: "Postvaccinal Myelitis" EXACT [] synonym: "subacute transverse myelitides" EXACT [] synonym: "Subacute Transverse Myelitis" EXACT [] synonym: "transverse myelopathy syndrome" EXACT [] synonym: "transverse myelopathy syndromes" EXACT [] xref: MESH:D009188 is_a: DOID:322 ! myelitis is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0080744 name: antisynthetase syndrome def: "An autoimmune disease that is characterized by myositis, arthralgia, Raynaud phenomenon, mechanic hands, interstitial lung disease, and serum autoantibodies to aminoacyl transfer RNA synthetases. (DO)" [https://en.wikipedia.org/wiki/Antisynthetase_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/27594777/ "DO"] xref: EFO:1001982 xref: GARD:735 xref: MESH:C537778 xref: ORDO:81 is_a: DOID:225 ! syndrome is_a: DOID:417 ! autoimmune disease is_a: DOID:633 ! myositis created_by: rgd creation_date: 2017-07-12T00:00:00Z [Term] id: DOID:0080745 name: polymyositis alt_id: DOID:9007919 def: "A myositis that is characterized by muscle weakness affecting both sides of your body. (DO)" [https://my.clevelandclinic.org/health/diseases/12053-polymyositis "DO", https://www.mayoclinic.org/diseases-conditions/polymyositis/symptoms-causes/syc-20353208 "DO"] synonym: "idiopathic polymyositides" EXACT [] synonym: "idiopathic polymyositis" EXACT [] synonym: "Juvenile Polymyositis" NARROW [] synonym: "Multiple Myositis" EXACT [] synonym: "Myositides, Multiple" EXACT [] synonym: "polymyositides" EXACT [] synonym: "polymyositis ossificans" EXACT [] synonym: "Scleroderma Polymyositis Overlap Syndrome" NARROW [] xref: EFO:0003063 xref: EFO:1001988 xref: EFO:1001994 xref: GARD:7425 xref: MESH:D017285 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:633 ! myositis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080746 name: Sweet syndrome def: "A skin disease that is characterized by sudden onset of well defined tender plaques or nodules accompanied by fever, arthralgias, ocular inflammation, headaches and, rarely, oral or genital lesions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17655751/ "DO", https://rarediseases.org/rare-diseases/sweet-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK431050/ "DO"] synonym: "acute febrile neutrophilic dermatosis" EXACT [] synonym: "AFND" EXACT [] synonym: "Gomm-Button disease" EXACT [] synonym: "MEFV-RELATED CONDITION" BROAD [] synonym: "NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE" EXACT [] synonym: "PAAND" EXACT [] synonym: "pyrin-associated autoinflammatory disease" EXACT [] synonym: "SS" EXACT [] synonym: "Sweet's syndrome" EXACT [] synonym: "Sweets syndrome" EXACT [] xref: GARD:521 xref: MESH:D016463 xref: MIM:608068 xref: MONDO:0011959 is_a: DOID:1205 ! allergic disease is_a: DOID:225 ! syndrome is_a: DOID:9006976 ! Erythema created_by: slaulede creation_date: 2018-06-19T14:06:53Z [Term] id: DOID:0080747 name: chronic urticaria def: "An urticaria that is characterized by the presence of urticaria for a period exceeding 6 weeks, assuming symptoms for most days of the week. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30033911/ "DO"] synonym: "autoimmune urticaria" EXACT [] synonym: "chronic autoimmune urticaria" EXACT [] xref: MESH:D000080223 is_a: DOID:1555 ! urticaria created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080748 name: chronic inducible urticaria def: "A chronic urticaria that is characterized by a history of a consistent stimulus that initiates lesions, which are typically short-lived and fleeting, lasting a few minutes up to 2 hours. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/ "DO"] synonym: "chronic inducible urticarias" EXACT [] synonym: "CIndU" EXACT [] is_a: DOID:0080747 ! chronic urticaria created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080749 name: chronic spontaneous urticaria def: "A chronic urticaria that is characterized by urticaria independent of any exogenous stimulus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14501436/ "DO", https://pubmed.ncbi.nlm.nih.gov/28671445/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061968/ "DO"] synonym: "chronic idiopathic urticaria" EXACT [] synonym: "chronic spontaneous urticarias" EXACT [] is_a: DOID:0080747 ! chronic urticaria created_by: mtutaj creation_date: 2019-03-19T12:34:20Z [Term] id: DOID:0080750 name: erythema nodosum def: "A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. (DO)" [https://en.wikipedia.org/wiki/Erythema_nodosum "DO", https://pubmed.ncbi.nlm.nih.gov/30269303/ "DO"] xref: MESH:D004893 is_a: DOID:1526 ! panniculitis is_a: DOID:9005236 ! Drug Eruptions is_a: DOID:9006976 ! Erythema created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080751 name: keratosis pilaris atrophicans def: "An ichthyosis that is characterized by perifollicular keratosis and inflammation that progresses to atrophy and scarring of the facial skin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26142438/ "DO"] synonym: "KPA" EXACT [] xref: MIM:604093 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1697 ! ichthyosis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080752 name: keratosis pilaris atrophicans faciei def: "A keratosis pilaris atrophicans that is characterized by scar-like follicular depressions and loss of hair primarily in the eyebrow area. (DO)" [https://dermnetnz.org/topics/keratosis-pilaris-atrophicans-faciei/ "DO"] is_a: DOID:0080751 ! keratosis pilaris atrophicans created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080753 name: keratosis follicularis spinulosa decalvans def: "A keratosis pilaris atrophicans that is characterized by scarring alopecia of the scalp, eyebrows, and axillae, sometimes associated with photophobia and keratoderma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639957/ "DO"] xref: ORDO:2340 is_a: DOID:0080751 ! keratosis pilaris atrophicans is_a: DOID:2734 ! keratosis follicularis created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080754 name: X-linked keratosis follicularis spinulosa decalvans alt_id: MIM:308800 def: "A keratosis follicularis spinulosa decalvans that has_material_basis_in mutation in the MBTPS2 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18984066/ "DO"] synonym: "keratosis follicularis spinulosa decalvans cum ophiasi" EXACT [] synonym: "KFSDX" EXACT [] xref: GARD:6829 xref: MESH:C536159 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080753 ! keratosis follicularis spinulosa decalvans created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080755 name: autosomal dominant keratosis follicularis spinulosa decalvans alt_id: MIM:612843 def: "A keratosis follicularis spinulosa decalvans that has_material_basis_in autosomal dominant inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18984066/ "DO"] xref: MESH:C567553 is_a: DOID:0080753 ! keratosis follicularis spinulosa decalvans is_a: DOID:9003137 ! Photophobia is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080756 name: atrophoderma vermiculata def: "A keratosis pilaris atrophicans that typically presents in childhood with erythema and follicular keratotic papules that slowly progress to characteristic atrophy, which has been described as worm-eaten, reticular, or honeycomb, and occurs on the cheeks, preauricular area, and forehead. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19326693/ "DO"] xref: GARD:9744 xref: MIM:209700 xref: ORDO:79100 is_a: DOID:0080751 ! keratosis pilaris atrophicans created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080757 name: Fanconi renotubular syndrome 1 def: "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the GATM gene on chromosome 15q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11090339/ "DO"] synonym: "FRTS1" EXACT [] synonym: "GATM-RELATED CONDITION" BROAD [] xref: MIM:134600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1062 ! Fanconi syndrome created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080758 name: Fanconi renotubular syndrome 2 def: "A Fanconi syndrome that has_material_basis_in homozygous mutation in the SLC34A1 gene on chromosome 5q35. (DO)" [https://ghr.nlm.nih.gov/gene/SLC34A1 "DO", https://pubmed.ncbi.nlm.nih.gov/26047794/ "DO"] synonym: "FRTS2" EXACT [] xref: MIM:613388 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1062 ! Fanconi syndrome created_by: slaulede creation_date: 2018-08-17T14:06:11Z [Term] id: DOID:0080759 name: Fanconi renotubular syndrome 3 def: "A Fanconi syndrome that is characterized by characterized by rickets, impaired growth, glucosuria, generalized aminoaciduria, phosphaturia, metabolic acidosis, and low molecular weight proteinuria and that has_material_basis_in heterozygous mutation in the EHHADH gene on chromosome 3q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24401050/ "DO"] synonym: "EHHADH-RELATED CONDITION" EXACT [] synonym: "Fanconi syndrome 3" EXACT [] synonym: "FRTS3" EXACT [] xref: MIM:615605 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1062 ! Fanconi syndrome created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080760 name: Fanconi renotubular syndrome 4 def: "A Fanconi syndrome that has_material_basis_in heterozygous mutation in the HNF4A gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24285859/ "DO", https://pubmed.ncbi.nlm.nih.gov/31875549/ "DO"] synonym: "Fanconi Renotubular Syndrome 4 with Maturity-Onset Diabetes of the Young" EXACT [] synonym: "FRTS4" EXACT [] synonym: "FRTS4 with MOD" EXACT [] synonym: "FRTS4 with MODY" EXACT [] xref: MIM:616026 is_a: DOID:0050524 ! maturity-onset diabetes of the young is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1062 ! Fanconi syndrome created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080761 name: Fanconi renotubular syndrome 5 def: "A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27466185/ "DO"] synonym: "Acadian-variant Fanconi syndrome" EXACT [] synonym: "FRTS5" EXACT [] xref: MIM:618913 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1062 ! Fanconi syndrome created_by: mtutaj creation_date: 2019-04-09T15:35:57Z [Term] id: DOID:0080762 name: autosomal recessive limb-girdle muscular dystrophy type 2Z def: "An autosomal recessive limb-girdle muscular dystrophy that is characterized by young-adult onset of slowly progressive proximal upper and lower limb muscle weakness and atrophy and that has_material_basis_in homozygous mutation in the POGLUT1 gene on chromosome 3q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27807076/ "DO", https://pubmed.ncbi.nlm.nih.gov/31897643/ "DO"] synonym: "LGMD2Z" EXACT [] synonym: "LGMDR21" EXACT [] synonym: "LGMD type 2Z" EXACT [] synonym: "limb-girdle muscular dystrophy 21" EXACT [] synonym: "limb-girdle muscular dystrophy type 2Z" EXACT [] synonym: "POGLUT1-RELATED CONDITION" BROAD [] synonym: "POGLUT1-related LGMD R21" EXACT [] synonym: "POGLUT1-related limb-girdle muscular dystrophy R21" EXACT [] xref: MIM:617232 xref: NCI:C142082 xref: ORDO:480682 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080763 name: diffuse gastric cancer def: "A stomach cancer that is characterized by development of diffuse (signet ring cell) gastric cancer underneath the stomach lining. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer "DO"] xref: GARD:10334 is_a: DOID:10534 ! stomach cancer created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080764 name: hereditary diffuse gastric cancer def: "A diffuse gastric cancer that is characterized by characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-diffuse-gastric-cancer "DO", https://pubmed.ncbi.nlm.nih.gov/20591882/ "DO", https://rarediseases.info.nih.gov/diseases/10900/disease "DO"] synonym: "CDH1-RELATED DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME" EXACT [] synonym: "DGLBC" EXACT [] synonym: "DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME" EXACT [] synonym: "DIFFUSE GASTRIC AND LOBULAR BREAST CANCER SYNDROME WITH CLEFT LIP AND WITH OR WITHOUT CLEFT PALATE" RELATED [] synonym: "familial diffuse gastric cancer" EXACT [] synonym: "GASTRIC CANCER, FAMILIAL DIFFUSE BREAST CANCER, LOBULAR" EXACT [] synonym: "HDGC" EXACT [] synonym: "hereditary diffuse gastric cancers" EXACT [] synonym: "LBC" EXACT [] xref: GARD:10900 xref: MIM:137215 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080763 ! diffuse gastric cancer created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080765 name: autosomal recessive intellectual developmental disorder 72 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL5 gene on chromosome 2q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29302074/ "DO", https://pubmed.ncbi.nlm.nih.gov/31564433/ "DO"] synonym: "autosomal recessive mental retardation 72" EXACT [] synonym: "MRT72" EXACT [] xref: EFO:0010654 xref: MIM:618665 xref: MONDO:0032860 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0080766 name: erythrokeratodermia variabilis et progressiva 6 def: "An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30528822/ "DO"] synonym: "EKVP6" EXACT [] synonym: "TRPM4-RELATED CONDITION" BROAD [] synonym: "TRPM4-related disorder" BROAD [] xref: MIM:618531 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2019-07-16T08:12:53Z [Term] id: DOID:0080767 name: autoimmune myocarditis def: "An autoimmune disease of cardiovascular system that is characterized by inflammation of the heart muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5706653/ "DO"] xref: GARD:9519 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:820 ! myocarditis [Term] id: DOID:0080768 name: pyridoxine-dependent epilepsy def: "An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine. (DO)" [https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/ "DO", https://rarediseases.org/rare-diseases/pyridoxine-dependent-epilepsy/ "DO"] synonym: "EPD" EXACT [] synonym: "PDE" EXACT [] synonym: "pyridoxine dependency" EXACT [] synonym: "pyridoxine dependency with seizures" EXACT [] synonym: "pyridoxine-dependent seizures" EXACT [] synonym: "vitamin B6-dependent seizures" EXACT [] xref: GARD:9298 xref: MESH:C536254 xref: ORDO:3006 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1826 ! epilepsy created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080769 name: early-onset vitamin B6-dependent epilepsy 1 def: "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27912044/ "DO", https://pubmed.ncbi.nlm.nih.gov/30668673/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK589231/ "DO"] synonym: "early-onset vitamin B6-dependent epilepsy" BROAD [] synonym: "EPEO1" EXACT [] synonym: "EPVB6D" EXACT [] synonym: "PDE-PLPBP" EXACT [] xref: MIM:617290 is_a: DOID:0080768 ! pyridoxine-dependent epilepsy created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080770 name: autosomal dominant beta thalassemia def: "A beta thalassemia that has_material_basis_in one dominantly inheriteed mutated HBB gene and signs and symptoms of beta-thalassemia major or beta-thalassemia intermedia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1971109/ "DO"] synonym: "beta thalassemia, dominant inclusion body type" EXACT [] synonym: "congenital dyserythropoietic anemia, Irish or Weatherall type" EXACT [] synonym: "inclusion body beta-thalassemia" EXACT [] xref: MESH:C565834 xref: MIM:603902 xref: MONDO:0011381 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12241 ! beta thalassemia created_by: mtutaj creation_date: 2019-03-15T13:48:03Z [Term] id: DOID:0080771 name: beta-thalassemia major alt_id: MIM:187550 def: "A beta thalassemia that is characterized by severe anemia and enlarged liver and spleen before 2 years of age. (DO)" [https://ghr.nlm.nih.gov/condition/beta-thalassemia "DO", https://pubmed.ncbi.nlm.nih.gov/12480689/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/19258591 "DO"] synonym: "beta+ thalassemia, silent allele" EXACT [] synonym: "beta-E-thalassemia" EXACT [] synonym: "BETA-KNOSSOS-THALASSEMIA" EXACT [] synonym: "Beta-Plus-Thalassemia" EXACT [] synonym: "BETA-PLUS-THALASSEMIA, DOMINANT" NARROW [] synonym: "Beta-Showa-Yakushiji Thalassemia" EXACT [] synonym: "beta-thal/Hb E" EXACT [] synonym: "beta-thalassemia hemoglobin E" EXACT [] synonym: "Cooley's Anemia" EXACT [] synonym: "Cooley anemia" EXACT [] synonym: "Cooleys anemia" EXACT [] synonym: "Double heterozygous for Hb E and beta thalassaemia" RELATED [] synonym: "HEMOGLOBIN BEOGRAD" RELATED [] synonym: "HEMOGLOBIN CAGLIARI" RELATED [] synonym: "HEMOGLOBIN D (CAMPERDOWN)" RELATED [] synonym: "HEMOGLOBIN DHOFAR" RELATED [] synonym: "HEMOGLOBIN DHONBURI" RELATED [] synonym: "Hemoglobin E" RELATED [] synonym: "HEMOGLOBIN KNOSSOS" RELATED [] synonym: "HEMOGLOBIN MALAY" RELATED [] synonym: "HEMOGLOBIN NEAPOLIS" RELATED [] synonym: "HEMOGLOBIN NORTH SHORE" RELATED [] synonym: "HEMOGLOBIN NORTH SHORE-CARACAS" RELATED [] synonym: "Hemoglobin Showa-Yakushiji" RELATED [] synonym: "HEMOGLOBIN TERRE HAUTE" RELATED [] synonym: "HEMOGLOBIN YUKUHASHI" RELATED [] synonym: "Thalassemia Major" EXACT [] synonym: "thalassemia major (beta thalassemia major)" EXACT [] xref: MESH:C566065 xref: NCI:C129699 xref: ORDO:231214 is_a: DOID:12241 ! beta thalassemia created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080772 name: beta-thalassemia intermedia def: "A beta thalassemia that is characterized by mild to moderate anemia along with slow growth and bone abnormalities appearing in early childhood or later in life. (DO)" [https://ghr.nlm.nih.gov/condition/beta-thalassemia "DO"] synonym: "thalassemia intermedia" EXACT [] synonym: "thalassemia intermedias" EXACT [] xref: ORDO:231222 is_a: DOID:12241 ! beta thalassemia created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080773 name: delta beta-thalassemia alt_id: MIM:141749 def: "A beta thalassemia that is characterized by decreased or absent synthesis of both the delta- and beta-globin chains, which leads to a compensatory increase in fetal gamma-chain synthesis. This disorder results in a microcytic anemia that is clinically mild. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30706898/ "DO", https://pubmed.ncbi.nlm.nih.gov/31444804/ "DO"] synonym: "British HPFH" RELATED [] synonym: "DELTA/BETA THALESSEMIA" EXACT [] synonym: "DELTA-PLUS-THALASSEMIA" EXACT [] synonym: "FETAL HEMOGLOBIN, A-GAMMA TYPE, REDUCTION IN" NARROW [] synonym: "Greek HPFH" NARROW [] synonym: "HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN" NARROW [] synonym: "hereditary persistence of fetal hemoglobin, HB gene cluster-related" NARROW [] synonym: "hereditary persistence of hemoglobin F" NARROW [] synonym: "HPFH" NARROW [] synonym: "Sardinian HPFH" NARROW [] synonym: "THALASSEMIA, GAMMA-DELTA-BETA" RELATED [] xref: MESH:C562716 xref: NCI:C172823 xref: ORDO:231237 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12241 ! beta thalassemia is_a: DOID:9008244 ! Delta-Thalassemia created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080774 name: thalassemia minor def: "A beta thalassemia that has_material_basis_in one HBB gene mutation without typical thalassemia symptoms, but may have some symptoms of anemia. (DO)" [https://ghr.nlm.nih.gov/condition/beta-thalassemia#inheritance "DO"] synonym: "Thalassemia Minor (beta Thalassemia Minor)" EXACT [] is_a: DOID:12241 ! beta thalassemia created_by: mtutaj creation_date: 2019-11-25T10:35:58Z [Term] id: DOID:0080775 name: complete androgen insensitivity syndrome def: "An androgen insensitivity syndrome that is characterized by complete androgen insensitivity as the body cannot use androgens at all, having the external sex characteristics of females but no uterus. (DO)" [https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome "DO"] synonym: "complete androgen-insensitivity syndromes" EXACT [] xref: ICD10CM:E34.51 xref: ORDO:99429 is_a: DOID:4674 ! androgen insensitivity syndrome created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:0080776 name: partial androgen insensitivity syndrome def: "An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26303084/ "DO"] synonym: "ANDROGEN INSENSITIVITY, PARTIAL, WITH BREAST CANCER" NARROW [] synonym: "ANDROGEN INSENSITIVITY, PARTIAL, WITH OR WITHOUT BREAST CANCER" EXACT [] synonym: "FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 1" EXACT [] synonym: "PAIS" EXACT [] synonym: "partial androgen insensitivities" EXACT [] synonym: "Partial Androgen Insensitivity" EXACT [] synonym: "Partial Androgen-Insensitivity Syndromes" EXACT [] synonym: "Reifenstein's Syndrome" EXACT [] synonym: "Reifensteins Syndrome" EXACT [] synonym: "Reifenstein syndrome" EXACT [] xref: GARD:5692 xref: MIM:312300 xref: MONDO:0010720 xref: NCI:C120192 xref: ORDO:90797 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4674 ! androgen insensitivity syndrome created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080777 name: lung sarcomatoid carcinoma def: "A lung carcinoma that is characterized by the presence of a sarcomatoid component often associated with giant cell differentiation. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C45540 "DO", https://pubmed.ncbi.nlm.nih.gov/28081478/ "DO"] synonym: "pulmonary sarcomatoid carcinoma" EXACT [] synonym: "sarcomatoid carcinoma of the lung" EXACT [] xref: EFO:1000336 xref: NCI:C45540 is_a: DOID:3905 ! lung carcinoma created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080778 name: transient infantile liver failure def: "A liver disease that is characterized by elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, and the presence of increased serum lactate and that has_material_basis_in homozygous or compound heterozygous mutation in the TRMU gene, which is involved in mitochondrial protein translation, on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19732863/ "DO", https://pubmed.ncbi.nlm.nih.gov/21931168/ "DO", https://pubmed.ncbi.nlm.nih.gov/27689697/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5045200/ "DO"] synonym: "LFIT" EXACT [] synonym: "transient recurrent infantile liver failure" NARROW [] synonym: "TRMU-RELATED CONDITION" BROAD [] xref: GARD:10593 xref: MIM:613070 xref: ORDO:217371 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004590 ! Acute Liver Failure created_by: mtutaj creation_date: 2020-09-15T00:00:00Z [Term] id: DOID:0080779 name: plasmablastic lymphoma def: "A large B-cell lymphoma that is characterized by the presence of large neoplastic cells resembling B-immunoblasts which have the immunophenotypic profile of plasma cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6467349/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7430862/ "DO"] synonym: "Plasmablastic Diffuse Large B cell Lymphoma" EXACT [] synonym: "plasmablastic lymphomas" EXACT [] synonym: "plasmablasts diffuse large B cell lymphoma" EXACT [] xref: ICDO:9735/3 xref: MESH:D000069293 xref: MONDO:0017347 xref: NCI:C7224 xref: ORDO:289666 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0080780 name: acute erythroid leukemia def: "An acute myeloid leukemia that is characterized by a predominant immature erythroid population. (DO)" [https://en.wikipedia.org/wiki/Acute_erythroid_leukemia "DO"] xref: EFO:0000218 xref: ICDO:9840/3 xref: NCI:C8923 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0080781 name: benign exocrine pancreas neoplasm def: "An endocrine organ benign neoplasm arising from the exocrine pancreas. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4613 "DO"] xref: NCI:C4613 is_a: DOID:0060089 ! endocrine organ benign neoplasm created_by: mtutaj creation_date: 2019-04-09T14:40:19Z [Term] id: DOID:0080782 name: mucinous pancreas adenocarcinoma def: "A pancreatic adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)" [https://www.nature.com/articles/s41598-018-24540-7 "DO"] is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:4074 ! pancreatic adenocarcinoma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080784 name: urinary tract infection alt_id: MIM:603806 def: "An urinary system disease that is characterized by an infection in any part of the urinary system, including the kidneys, ureters, bladder or urethra. (DO)" [https://medlineplus.gov/urinarytractinfections.html "DO", https://www.cdc.gov/antibiotic-use/community/for-patients/common-illnesses/uti.html "DO", https://www.mayoclinic.org/diseases-conditions/urinary-tract-infection/symptoms-causes/syc-20353447 "DO"] synonym: "urinary tract infections" EXACT [] synonym: "UTI" EXACT [] xref: EFO:0003103 xref: ICD10CM:N39.0 xref: MESH:D014552 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:18 ! urinary system disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080785 name: Brown-Vialetto-Van Laere syndrome 1 def: "A Brown-Vialetto-Van Laere syndrome that is characterized by progressive bulbar palsy with sensorineural deafness that has_material_basis_in homozygous or compound heterozygous mutation in the C20ORF54 gene (SLC52A3) on chromosome 20p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20206331/ "DO"] synonym: "BVVLS1" EXACT [] xref: MIM:211530 xref: NCI:C133724 is_a: DOID:0050694 ! Brown-Vialetto-Van Laere syndrome is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080786 name: Brown-Vialetto-Van Laere syndrome 2 def: "A Brown-Vialetto-Van Laere syndrome that is characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC52A2 gene on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20206331/ "DO"] synonym: "BVVLS2" EXACT [] synonym: "riboflavin transporter deficiency, type 2" EXACT [] synonym: "RTD2" EXACT [] xref: MIM:614707 xref: NCI:C183529 is_a: DOID:0050694 ! Brown-Vialetto-Van Laere syndrome is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080787 name: proximal symphalangism 1 def: "A proximal symphalangism that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and, in some cases, conductive deafness and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16353259/ "DO"] synonym: "proximal symphalangism, 1A" EXACT [] synonym: "SYM1" EXACT [] synonym: "SYM1A" EXACT [] xref: MIM:185800 xref: MONDO:0020733 is_a: DOID:0050788 ! proximal symphalangism created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080788 name: proximal symphalangism 2 def: "A proximal symphalangism that is characterized by absence of the cuboid bone and lack of shortness of the first and fifth metacarpal bones, and the presence of distal interphalangeal joint fusions and flat feet and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16892395/ "DO"] synonym: "proximal symphalangism, 1B" EXACT [] synonym: "SYM1B" EXACT [] xref: MIM:615298 xref: MONDO:0014125 is_a: DOID:0050788 ! proximal symphalangism created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080789 name: Treacher Collins syndrome 1 def: "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the 'treacle' gene (TCOF1) on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15340364/ "DO"] synonym: "TCOF1-RELATED CONDITION" EXACT [] synonym: "TCS1" EXACT [] xref: MIM:154500 xref: MONDO:0007944 is_a: DOID:2908 ! Treacher Collins syndrome created_by: rgd creation_date: 2017-10-18T12:30:34Z [Term] id: DOID:0080790 name: Treacher Collins syndrome 2 def: "A Treacher Collins syndrome that has_material_basis_in heterozygous mutation in the POLR1D gene on chromosome 13q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25790162/ "DO"] synonym: "TCS2" EXACT [] xref: MIM:613717 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2908 ! Treacher Collins syndrome created_by: rgd creation_date: 2017-07-11T00:00:00Z [Term] id: DOID:0080791 name: Treacher Collins syndrome 3 alt_id: MIM:248390 def: "A Treacher Collins syndrome that has_material_basis_in compound heterozygous mutation in the POLR1C gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11013442/ "DO"] synonym: "Mandibulofacial Dysostosis, Treacher Collins Type, Autosomal Recessive" EXACT [] synonym: "POLR1C-related disorder" BROAD [] synonym: "POLR1C-related disorders" BROAD [] synonym: "TCS3" EXACT [] synonym: "Treacher Collins syndrome, recessive" BROAD [] xref: MESH:C535707 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2908 ! Treacher Collins syndrome created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080792 name: Treacher Collins syndrome 4 def: "A Treacher Collins syndrome that is characterized by craniofacial dysmorphisms including downslanting palpebral fissures, malar and mandibular hypoplasia, and microtia and that has_material_basis_in heterozygous mutation in the POLR1B gene on chromosome 2q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31649276/ "DO"] synonym: "TCS4" EXACT [] xref: MIM:618939 is_a: DOID:2908 ! Treacher Collins syndrome created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:0080794 name: childhood acute megakaryoblastic leukemia def: "An acute megakaryocytic leukemia that is characterized by fusion oncogenes involving transcriptional regulators in childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28867167/ "DO", https://www.nature.com/articles/ng.3772 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7309653/ "DO"] synonym: "acute megakaryoblastic leukemia without Down syndrome" EXACT [] synonym: "pediatric non-Down syndrome acute megakaryoblastic leukemia" EXACT [] xref: EFO:1001943 xref: NCI:C7972 is_a: DOID:8761 ! acute megakaryocytic leukemia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080795 name: acute basophilic leukemia def: "An acute myeloid leukemia that is characterized by primary differentiation to basophils. (DO)" [http://www.pathologyoutlines.com/topic/leukemiabasophil.html "DO", https://en.wikipedia.org/wiki/Acute_basophilic_leukemia "DO"] synonym: "acute basophilic leukemias" EXACT [] xref: EFO:0003029 xref: ICDO:9870/3 xref: MESH:D015471 xref: NCI:C3164 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2019-09-03T13:24:45Z [Term] id: DOID:0080796 name: core binding factor acute myeloid leukemia def: "An acute myeloid leukemia that is characterized by the presence of t(8;21)(q22;q22) or inv(16)(p13q22)/t(16;16)(p13;q22). These cytogenetic abnormalities result in disruption of the transcription factor CBF, which is a regulator of normal hematopoiesis. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26980726/ "DO"] xref: EFO:1002001 xref: NCI:C122688 is_a: DOID:9119 ! acute myeloid leukemia created_by: rgd creation_date: 2017-03-07T00:00:00Z [Term] id: DOID:0080797 name: nasal type extranodal NK/T-cell lymphoma def: "A mature T-cell and NK-cell lymphoma that is characterized by an often angiocentric and angiodestructive cellular infiltrate composed of EBV positive NK/T cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29602763/ "DO"] synonym: "extranodal NK-T-cell lymphoma" EXACT [] synonym: "Extranodal NK T Cell Lymphoma, Nasal" EXACT [] synonym: "Extranodal NK T Cell Lymphoma, Nasal and Nasal Type" EXACT [] synonym: "Extranodal NK-T-Cell Lymphomas" EXACT [] xref: ICDO:9719/3 xref: MESH:D054391 xref: MONDO:0019472 xref: NCI:C4684 is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma is_a: DOID:10811 ! nasal cavity cancer created_by: mtutaj creation_date: 2019-10-31T12:32:46Z [Term] id: DOID:0080798 name: myeloid leukemia associated with Down Syndrome def: "An acute megakaryocytic leukemia occurring in children with Down syndrome and that has_material_basis_in mutation in the GATA1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26910243/ "DO", https://pubmed.ncbi.nlm.nih.gov/31606922/ "DO"] synonym: "ACUTE MEGAKARYOBLASTIC LEUKEMIA IN DOWN SYNDROME" EXACT [] synonym: "megakaryoblastic leukemia of Down syndrome" EXACT [] xref: ICDO:9898/3 xref: MESH:C566025 xref: NCI:C43223 is_a: DOID:14250 ! Down syndrome is_a: DOID:225 ! syndrome is_a: DOID:8761 ! acute megakaryocytic leukemia created_by: mtutaj creation_date: 2019-03-27T08:09:55Z [Term] id: DOID:0080799 name: sinonasal undifferentiated carcinoma def: "A nasal cavity carcinoma that arises from the sinonasal tract and that is characterized by the presence of small to medium size malignant cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30806835/ "DO"] xref: EFO:1000527 xref: MESH:C537344 xref: NCI:C54294 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:4931 ! nasal cavity carcinoma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080800 name: salivary gland mucinous adenocarcinoma def: "A salivary gland carcinoma that is characterized by the presence of large pools of extracellular mucin in which clusters of malignant epithelial cells are found. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26908552/ "DO"] xref: NCI:C62193 is_a: DOID:0050904 ! salivary gland carcinoma is_a: DOID:3030 ! mucinous adenocarcinoma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080801 name: autosomal dominant craniometaphyseal dysplasia alt_id: MIM:123000 def: "A craniometaphyseal dysplasia that has_material_basis_in heterozygous mutation in the ANKH gene on chromosome 5p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9382103/ "DO"] synonym: "CMDD" EXACT [] synonym: "CMDJ" EXACT [] synonym: "CRANIOMETADIAPHYSEAL DYSPLASIA WORMIAN BONE TYPE" EXACT [] synonym: "craniometaphyseal dysplasia, dominant type" EXACT [] synonym: "craniometaphyseal dysplasia, Jackson type" EXACT [] xref: MESH:C565145 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080033 ! craniometaphyseal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080802 name: autosomal recessive craniometaphyseal dysplasia alt_id: MIM:218400 def: "A craniometaphyseal dysplasia that has_material_basis_in homozygous mutation in the GJA1 gene on chromosome 6q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9382103/ "DO"] synonym: "CMDR" EXACT [] synonym: "craniometaphyseal dysplasia, autosomal recessive type" EXACT [] xref: MESH:C536570 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080033 ! craniometaphyseal dysplasia is_a: DOID:2339 ! Crouzon syndrome created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080803 name: cranioectodermal dysplasia 1 def: "A cranioectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the IFT122 gene on chromosome 3q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/517478/ "DO"] synonym: "CED1" EXACT [] synonym: "Levin syndrome I" EXACT [] xref: MIM:218330 is_a: DOID:0050577 ! cranioectodermal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080804 name: cranioectodermal dysplasia 2 def: "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR35 gene on chromosome 2p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21378380/ "DO"] synonym: "CED2" EXACT [] synonym: "WDR35-related disorder" BROAD [] xref: MIM:613610 is_a: DOID:0050577 ! cranioectodermal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080805 name: cranioectodermal dysplasia 3 def: "A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21378380/ "DO"] synonym: "CED3" EXACT [] xref: MIM:614099 is_a: DOID:0050577 ! cranioectodermal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080806 name: cranioectodermal dysplasia 4 def: "A cranioectodermal dysplasia that has_material_basis_in compound heterozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21378380/ "DO"] synonym: "CED4" EXACT [] xref: MIM:614378 is_a: DOID:0050577 ! cranioectodermal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080807 name: autosomal dominant craniodiaphyseal dysplasia alt_id: MIM:122860 def: "A craniodiaphyseal dysplasia that has_material_basis_in heterozygous mutation in the SOST gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21221996/ "DO"] synonym: "CDD" EXACT [] synonym: "SOST-RELATED CONDITION" BROAD [] xref: MESH:C567275 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080032 ! craniodiaphyseal dysplasia created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080808 name: mammary analogue secretory carcinoma def: "A salivary gland carcinoma that has_material_basis_in a chromosomal translocation that results in an ETV6-NTRK3 fusion gene. (DO)" [http://www.pathologyoutlines.com/topic/salivaryglandsmammary.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643951/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7113190/ "DO"] xref: MESH:D000069295 is_a: DOID:0050904 ! salivary gland carcinoma created_by: mtutaj creation_date: 2019-09-03T14:22:06Z [Term] id: DOID:0080809 name: chronic asthma def: "An asthma that is characterized by the development of persistent airway inflammation and recurrent attacks of breathlessness and wheezing, which vary in severity and frequency. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK7223/ "DO", https://www.nhlbi.nih.gov/health/asthma "DO"] synonym: "chronic obstructive asthma" EXACT [] synonym: "chronic obstructive asthma with acute exacerbation" EXACT [] synonym: "chronic obstructive asthma with status asthmaticus" EXACT [] xref: EFO:0009759 is_a: DOID:2841 ! asthma created_by: mtutaj creation_date: 2020-08-03T12:16:16Z [Term] id: DOID:0080810 name: acute asthma def: "An asthma that is characterized by severe and sudden onset of increasing wheezing, airways closing, smooth muscle contraction, mucus plugging and lower airway edema that may be reversible upon treatment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27554811/ "DO"] is_a: DOID:2841 ! asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080811 name: extrinsic asthma def: "A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/ "DO"] synonym: "atopic asthma" EXACT [] is_a: DOID:0080809 ! chronic asthma is_a: DOID:1205 ! allergic disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080812 name: intermittent asthma def: "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control two or fewer days per week and no interference with normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080813 name: persistent mild asthma def: "A chronic asthma that is characterized by severity with symptoms two or more days per week, nighttime awakenings three to four times per month, use of short-acting beta agonist for symptom control two or more days per week and minor limitation of normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080814 name: persistent moderate asthma def: "A chronic asthma that is characterized by severity with daily symptoms, nighttime awakenings more than once per week, daily use of short-acting beta agonist for symptom control and some limitation of normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080815 name: childhood-onset asthma def: "A chronic asthma that is characterized by first presentation in early childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/ "DO"] synonym: "childhood asthma" EXACT [] xref: EFO:0004591 xref: MONDO:0005405 is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080816 name: adult-onset severe asthma def: "A chronic asthma that is characterized by first presentation in adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6603154/ "DO"] is_a: DOID:0080809 ! chronic asthma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0080817 name: T2-high asthma def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of early-onset allergic asthma, late-onset eosinophilic asthma, and aspirin-exacerbated respiratory disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21281866/ "DO"] synonym: "type 2 high endotype" EXACT [] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080818 name: T2-low asthma def: "A chronic asthma that is characterized by the pathophysiology phenotype combination (endotype) of non-atopic, smoking, obesity related, and elderly and that is characterized by neutrophilic (sputum neutrophils > 40–60%) or paucigranulocytic (i.e., normal sputum levels of both eosinophils and neutrophils) inflammation and a lack of response to corticosteroid therapy. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21281866/ "DO"] synonym: "type 2 low endotype" EXACT [] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2019-02-26T08:41:12Z [Term] id: DOID:0080819 name: environmental induced asthma def: "An intrinsic asthma that is characterized by exposure to tobacco smoke and other inflammatory gases or particulate matter. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK526018/ "DO"] synonym: "irritant asthma" EXACT [] is_a: DOID:9360 ! intrinsic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080820 name: occupational asthma def: "An environmental induced asthma that is characterized by a variable airflow limitation due to exposure to inhaled irritants in the workplace. (DO)" [https://medlineplus.gov/ency/article/000110.htm "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/asthma/occupational-asthma "DO"] synonym: "occupational asthmas" EXACT [] xref: MESH:D059366 is_a: DOID:0080819 ! environmental induced asthma is_a: DOID:9005463 ! Occupational Diseases created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080821 name: exercise-induced bronchoconstriction def: "An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29631730/ "DO"] synonym: "Exercise-Induced Asthma" EXACT [] synonym: "exercise-induced asthmas" EXACT [] synonym: "Exercise Induced Bronchospasm" EXACT [] synonym: "exercise-induced bronchospasms" EXACT [] xref: MESH:D001250 is_a: DOID:9360 ! intrinsic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080822 name: aspirin-induced respiratory disease def: "An intrinsic asthma that is characterized by severe and prolonged airway obstruction after the ingestion of aspirin or other non-steroidal anti-inflammatory drugs. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11028656/ "DO"] synonym: "Aspirin-Induced Asthma" EXACT [] synonym: "Aspirin Induced Asthmas" EXACT [] synonym: "aspirin-induced asthma, susceptibility to" RELATED [] synonym: "Aspirin Induced Asthma Syndrome" EXACT [] synonym: "Aspirin-Induced Asthma Syndromes" EXACT [] synonym: "aspirin-sensitive asthma" EXACT [] synonym: "NSAID-induced asthma" EXACT [] synonym: "NSAID-induced asthmas" EXACT [] synonym: "obsolete_aspirin induced asthma - now uses HP:0012042" EXACT [] xref: EFO:0004590 xref: MESH:D055963 is_a: DOID:0060500 ! drug allergy is_a: DOID:9360 ! intrinsic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080823 name: near-fatal asthma def: "An acute asthma that is characterized by a respiratory arrest or arterial carbon dioxide tension greater than 50 mmHg, with or without altered consciousness, requiring mechanical ventilation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27425166/ "DO"] is_a: DOID:0080810 ! acute asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080824 name: persistent severe asthma def: "A chronic asthma that is characterized by severity with symptoms two or fewer days per week, nighttime awakenings two or fewer times per month, use of short-acting beta agonist for symptom control several times per day and extremely limited normal activity. (DO)" [https://www.aafp.org/afp/2009/0501/p761.html "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080825 name: thunderstorm triggered asthma def: "An allergic asthma that is characterized by acute asthma attacks immediately following a thunderstorm resulting from inhalation of high concentrations of aeroallergens, most commonly grass pollen. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29413334/ "DO", https://pubmed.ncbi.nlm.nih.gov/29880151/ "DO", https://pubmed.ncbi.nlm.nih.gov/31190900/ "DO"] synonym: "thunderstorm asthma" EXACT [] synonym: "thunderstorm related asthma" EXACT [] is_a: DOID:9415 ! allergic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080826 name: nocturnal asthma def: "A chronic asthma that is characterized by significant decline in pulmonary function and increase of airway inflammation at night. During sleep, recumbent posture causes a reduction in the lung volumes, respiratory muscle tone, and lung compliance. The overnight physiological abnormalities include: increased airway inflammation and decreased steroid responsiveness, increased pulmonary capillary blood volume, functional differences in blood/air volume ratios and mechanical coupling of the parenchyma to the airways. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17571537/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6197640/ "DO"] is_a: DOID:0080809 ! chronic asthma created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080827 name: human cytomegalovirus infection def: "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25205255/ "DO"] is_a: DOID:9006262 ! Cytomegalovirus Infections created_by: mtutaj creation_date: 2019-02-08T16:50:05Z [Term] id: DOID:0080828 name: VEXAS syndrome def: "A syndrome that is characterized by blood clots in veins, recurrent fevers, pulmonary abnormalities and vacuoles in myeloid cells and that has_material_basis_in mutation in the UBA1 gene on chromosome Xp11. (DO)" [https://www.nejm.org/doi/full/10.1056/NEJMoa2026834 "DO", https://www.nih.gov/news-events/news-releases/scientists-use-clues-human-genome-discover-new-inflammatory-syndrome "DO"] synonym: "vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome" EXACT [] synonym: "VEXAS" EXACT [] synonym: "VEXAS syndrome, somatic" EXACT [] xref: MIM:301054 xref: ORDO:596753 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2016-09-13T00:00:00Z [Term] id: DOID:0080829 name: low grade glioma alt_id: DOID:0060101 def: "A cell type benign neoplasm that has_material_basis_in glial cells (astrocytes, oligodendrocytes or ependymocytes). (DO)" [http://www.danafarberbostonchildrens.org/conditions/brain-tumor/low-grade-glioma.aspx "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/def/glioma "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4361022/ "DO"] synonym: "benign glioma" EXACT [] xref: NCI:C132067 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:9006391 ! Spinal Cord Neoplasms is_a: DOID:9007502 ! Brain Neoplasms created_by: mtutaj creation_date: 2020-11-11T00:00:00Z [Term] id: DOID:0080830 name: childhood low-grade glioma def: "A low-grade glioma that occurs in children and encompasses tumors of astrocytic, oligodendroglial, and mixed glial-neuronal histology. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23583981/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2917804/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786244/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7066826/ "DO"] synonym: "pediatric low-grade glioma" EXACT [] is_a: DOID:0080829 ! low grade glioma created_by: mtutaj creation_date: 2019-02-11T08:31:15Z [Term] id: DOID:0080831 name: subjective cognitive decline def: "A cognitive disorder that is characterized by the presence of significant and persistent cognitive complaints. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24798886/ "DO"] is_a: DOID:1561 ! cognitive disorder created_by: mtutaj creation_date: 2020-09-24T13:35:13Z [Term] id: DOID:0080832 name: mild cognitive impairment def: "A cognitive disorder that is characterized by objective impairment in cognition with minimal impairment of their capacity to undertake the instrumental activities of daily living. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29282327/ "DO"] synonym: "mild cognitive impairments" EXACT [] synonym: "mild neurocognitive disorder" EXACT [] synonym: "mild neurocognitive disorders" EXACT [] xref: EFO:0007982 is_a: DOID:9002775 ! Cognitive Dysfunction created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0080833 name: laryngomalacia alt_id: MIM:150280 def: "A laryngeal disease that is characterized by inward collapse of flaccid supraglottic structures during inspiration. The most common symptom is noisy breathing (stridor) that is often worse when the infant is on his/her back or crying. (DO)" [https://www.childrenshospital.org/conditions-and-treatments/conditions/l/laryngomalacia "DO", https://www.childrenshospitalvanderbilt.org/medical-conditions/laryngomalacia "DO"] synonym: "chondromalacia of larynx" EXACT [] synonym: "congenital laryngomalacia" EXACT [] synonym: "laryngomalacias" EXACT [] synonym: "larynx chondromalacia" EXACT [] synonym: "larynx chondromalacias" EXACT [] xref: GARD:6865 xref: ICD10CM:Q31.5 xref: MESH:D055092 xref: ORDO:2373 is_a: DOID:0080015 ! physical disorder is_a: DOID:1222 ! cartilage disease is_a: DOID:786 ! laryngeal disease is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0080834 name: acquired laryngomalacia def: "A laryngeal disease that is characterized by acquired collapse of laryngeal suprastructures. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24615649/ "DO"] is_a: DOID:786 ! laryngeal disease created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0080835 name: TORCH syndrome def: "A syndrome that is characterized by congenital infection with toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and other organisms. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32317443/ "DO", https://pubmed.ncbi.nlm.nih.gov/32734340/ "DO", https://rarediseases.org/rare-diseases/torch-syndrome/ "DO", https://www.childrenshospital.org/conditions-and-treatments/conditions/t/torch "DO"] xref: GARD:7781 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2020-10-22T13:51:21Z [Term] id: DOID:0080836 name: growth hormone insensitivity syndrome with immune dysregulation 1 alt_id: MIM:245590 def: "A syndrome that is characterized by short stature due to insensitivity to growth hormone and that has_material_basis_in homozygous mutation in the STAT5B gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16787985/ "DO"] synonym: "GHISID1" EXACT [] synonym: "growth hormone insensitivity due to postreceptor defect" EXACT [] synonym: "growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive" EXACT [] synonym: "growth hormone insensitivity with immune dysregulation 1" EXACT [] synonym: "growth hormone insensitivity with immune dysregulation 1, autosomal recessive" EXACT [] synonym: "growth hormone insensitivity with immunodeficiency" EXACT [] synonym: "Laron syndrome due to postreceptor defect" EXACT [] synonym: "Laron syndrome type 2" EXACT [] synonym: "Laron type dwarfism 2" EXACT [] xref: GARD:3924 xref: MESH:C537871 xref: ORDO:220465 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000309 ! Growth Hormone Insensitivity with Immune Dysregulation created_by: mtutaj creation_date: 2020-12-22T09:44:00Z [Term] id: DOID:0080837 name: growth hormone insensitivity syndrome with immune dysregulation 2 def: "A syndrome that is characterized by short stature due to insensitivity to growth hormone and\nthat has_material_basis_in heterozygous mutation in the STAT5B gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29844444/ "DO"] synonym: "GHISID2" EXACT [] synonym: "growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant" EXACT [] synonym: "growth hormone insensitivity with immune dysregulation 2" EXACT [] synonym: "growth hormone insensitivity with immune dysregulation 2, autosomal dominant" EXACT [] xref: MIM:618985 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000309 ! Growth Hormone Insensitivity with Immune Dysregulation created_by: mtutaj creation_date: 2020-12-22T13:56:00Z [Term] id: DOID:0080839 name: X-linked warfarin sensitivity def: "An inherited metabolic disorder that is characterized by bleeding complications when given warfarin for anticoagulation and that has_material_basis_in variation in the F9 gene on chromosome Xq27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29450643/ "DO"] synonym: "COUMARIN SENSITIVITY, X-LINKED" EXACT [] xref: EFO:0021801 xref: MIM:301052 is_a: DOID:0080666 ! warfarin sensitivity created_by: mtutaj creation_date: 2020-07-07T07:31:13Z [Term] id: DOID:0080840 name: optic atrophy 12 def: "An optic atrophy that is characterized by slowly progressive visual impairment with onset usually in the first decade and that has_material_basis_in heterozygous mutation in the AFG3L2 gene on chromosome 18p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32219868/ "DO"] synonym: "OPA12" EXACT [] xref: MIM:618977 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005850 ! Hereditary Optic Atrophies created_by: mtutaj creation_date: 2019-02-22T10:16:06Z [Term] id: DOID:0080841 name: pemphigoid def: "An autoimmune disease of skin and connective tissue that is characterized by subepidermal blistering especially in the lower abdomen, groin, and flexor surfaces of the extremities, creating tense blisters that do not break easily. (DO)" [https://rarediseases.org/rare-diseases/pemphigus/ "DO"] synonym: "pemphigoids" EXACT [] xref: NCI:C34908 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:8502 ! bullous skin disease created_by: mtutaj creation_date: 2020-07-31T11:50:10Z [Term] id: DOID:0080842 name: intracranial meningioma def: "A meningioma that arises within the cranial cavity. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17961033/ "DO"] synonym: "intracranial meningiomas" EXACT [] xref: NCI:C4656 is_a: DOID:3565 ! meningioma created_by: mtutaj creation_date: 2020-12-22T14:19:00Z [Term] id: DOID:0080843 name: supratentorial meningioma def: "A meningioma that affects the supratentorial brain. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26636386/ "DO"] synonym: "supratentorial meningiomas" EXACT [] xref: NCI:C7048 is_a: DOID:3565 ! meningioma created_by: mtutaj creation_date: 2020-12-22T14:30:11Z [Term] id: DOID:0080844 name: omodysplasia 1 alt_id: MIM:258315 def: "An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17823719/ "DO"] synonym: "OMOD1" EXACT [] synonym: "omodysplasia (Maroteaux)" EXACT [] synonym: "omodysplasia, autosomal recessive" EXACT [] synonym: "omodysplasia, autosomal recessive form" EXACT [] synonym: "omodysplasia, generalized form" EXACT [] synonym: "omodysplasia type 1" EXACT [] xref: MESH:C537746 xref: ORDO:93329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060288 ! omodysplasia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006502 ! Congenital Micromelic Dysplasia with Dislocation of Radius created_by: mtutaj creation_date: 2020-12-22T14:34:11Z [Term] id: DOID:0080845 name: omodysplasia 2 alt_id: MIM:164745 def: "An omodysplasia that is characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies and that has_material_basis_in heterozygous mutation in the FZD2 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25759469/ "DO"] synonym: "OMOD2" EXACT [] synonym: "omodysplasia, autosomal dominant" EXACT [] xref: MESH:C567664 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060288 ! omodysplasia is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2020-12-22T14:37:11Z [Term] id: DOID:0080846 name: latent autoimmune diabetes in adults def: "A type 1 diabetes mellitus that is characterized by a less intensive autoimmune process, highly variable β-cell destruction, different degrees of insulin resistance and heterogeneous titre and pattern of islet autoantibody, sharing features with both type 1 and type 2 diabetes mellitus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29947172/ "DO", https://pubmed.ncbi.nlm.nih.gov/30565440/ "DO"] synonym: "Diabetes Mellitus Type 1.5" EXACT [] synonym: "LADA" EXACT [] synonym: "LADA, Latent Autoimmune Diabetes in Adults" EXACT [] synonym: "Latent Autoimmune Diabetes of Adults" EXACT [] synonym: "type 1.5 diabetes" EXACT [] xref: EFO:0009706 xref: MESH:D000071698 is_a: DOID:9744 ! type 1 diabetes mellitus created_by: mtutaj creation_date: 2020-12-22T14:40:11Z [Term] id: DOID:0080848 name: long COVID def: "A Coronavirus infectious disease that is characterized by long-term persistent and fluctuating symptoms, in individuals with COVID-19, persisting beyond three to four weeks, including the loss of the ability to smell and taste, breathlessness, fatigue, difficulty in breathing, difficulty concentrating, memory loss, confusion, headache, heart palpitations, chest pain, pain with deep breaths, dizziness, and tachycardia. (DO)" [https://www.bmj.com/content/371/bmj.m4470 "DO", https://www.medrxiv.org/content/10.1101/2020.10.07.20208249v1 "DO", https://www.medrxiv.org/content/10.1101/2020.10.07.20208702v1 "DO", https://www.medrxiv.org/content/10.1101/2020.10.13.20211854v1 "DO", https://www.nature.com/articles/d41586-020-02796-2 "DO"] synonym: "chronic COVID-19" EXACT [] synonym: "LONG COVID-19" EXACT [] synonym: "PASC" EXACT [] synonym: "post-acute sequelae of SARS-CoV-2 infection" EXACT [] synonym: "POST-COVID-19 DISORDER" EXACT [] synonym: "post-COVID syndrome" EXACT [] is_a: DOID:0080599 ! Coronavirus infectious disease created_by: mtutaj creation_date: 2019-02-08T15:10:09Z [Term] id: DOID:0080849 name: ocular motor apraxia, Cogan type alt_id: MIM:257550 def: "An eye disease that is characterized by defective or absent horizontal voluntary eye movements, and defective or absent horizontal ocular attraction movements. (DO)" [https://en.wikipedia.org/wiki/Oculomotor_apraxia "DO", https://eyewiki.aao.org/Oculomotor_Apraxia "DO", https://rarediseases.org/rare-diseases/ocular-motor-apraxia-cogan-type/ "DO"] synonym: "Cogan's syndrome, type 2" EXACT [] synonym: "COMA" EXACT [] synonym: "congenital oculomotor apraxia" EXACT [] synonym: "congenital saccade initiation failure" EXACT [] synonym: "Ocular Motor Apraxia" EXACT [] synonym: "Oculomotor Apraxia, Cogan Type" EXACT [] xref: GARD:16 xref: MESH:C537423 xref: ORDO:1404 is_a: DOID:0060135 ! apraxia is_a: DOID:0060216 ! Cogan syndrome created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080850 name: pemphigus foliaceus def: "A pemphigus that is characterized by blistering lesions on otherwise healthy-looking skin. (DO)" [https://dermnetnz.org/topics/pemphigus-foliaceus/ "DO"] synonym: "pemphigus foliaceous" EXACT [] xref: EFO:0008601 xref: GARD:7354 xref: ICD10CM:L10.2 is_a: DOID:9182 ! pemphigus created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080851 name: IgA pemphigus def: "A pemphigus that is characterized by painful and pruritic vesiculopustular eruptions. These eruptions form as a result of circulating IgA antibodies against keratinocyte cell surface components responsible for cell to cell adherence. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK519063/ "DO"] xref: EFO:0008604 is_a: DOID:9182 ! pemphigus created_by: mtutaj creation_date: 2020-11-18T14:27:34Z [Term] id: DOID:0080852 name: paraneoplastic pemphigus def: "A pemphigus that is characterized by painful blisters and denuded areas of the mouth, lips, oesophagus and skin. (DO)" [https://dermnetnz.org/topics/paraneoplastic-pemphigus/ "DO", https://en.wikipedia.org/wiki/Paraneoplastic_pemphigus "DO"] xref: EFO:0008602 xref: ICD10CM:L10.81 is_a: DOID:9182 ! pemphigus created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080854 name: anaplastic pleomorphic xanthoastrocytoma def: "A malignant astrocytoma that is characterized by the presence of five or more mitoses per 10 high-power fields. (DO)" [https://www.hindawi.com/journals/crinm/2018/6428492/ "DO"] xref: NCI:C129327 is_a: DOID:3069 ! malignant astrocytoma created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080855 name: Parkinsonism def: "A movement disorder that is characterized by disturbances of balance, gait and posture. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7578144/ "DO"] synonym: "autosomal dominant juvenile Parkinson disease" EXACT [] synonym: "Autosomal Dominant Juvenile Parkinsonism" EXACT [] synonym: "Autosomal Dominant Parkinsonism" EXACT [] synonym: "Autosomal Recessive Juvenile Parkinson Disease" EXACT [] synonym: "Autosomal Recessive Parkinsonism" EXACT [] synonym: "Autosomal Recesssive Juvenile Parkinsonism" EXACT [] synonym: "Chromosome 6 Linked Autosomal Recessive Parkinsonism" EXACT [] synonym: "EPDF" EXACT [] synonym: "Experimental Parkinson Disease" EXACT [] synonym: "experimental Parkinson diseases" EXACT [] synonym: "Experimental Parkinsonism" EXACT [] synonym: "Familial Juvenile Parkinsonism" EXACT [] synonym: "Familial Parkinson Disease, Autosomal Recessive" EXACT [] synonym: "Juvenile Parkinson Disease" EXACT [] synonym: "Juvenile Parkinsonism" EXACT [] synonym: "Juvenile Parkinsonism, Autosomal Recessive" EXACT [] synonym: "MPTP Induced Experimental Parkinsonism" EXACT [] synonym: "parkinsonian diseases" EXACT [] synonym: "Parkinsonian disorder" EXACT [] synonym: "Parkinsonian Disorders" EXACT [] synonym: "Parkinsonian Syndrome" EXACT [] synonym: "parkinsonian syndromes" EXACT [] synonym: "PDJ" EXACT [] synonym: "Ramsay Hunt paralysis syndrome" EXACT [] xref: MESH:D020734 is_a: DOID:480 ! movement disease is_a: DOID:679 ! basal ganglia disease created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080856 name: vascular Parkinsonism def: "A Parkinsonism that is characterized by postural instability, a broad-based gait with the absence of tremors of vascular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6327701/ "DO"] is_a: DOID:0080855 ! Parkinsonism created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080857 name: primary ovarian insufficiency 1 alt_id: DOID:9005363 def: "A primary ovarian insufficiency that has_material_basis_in premutations in the FMR1 gene on chromosome Xq27.3, within a region defined as POF1 (Xq26-q28). (DO)" [https://pubmed.ncbi.nlm.nih.gov/27861765/ "DO"] synonym: "FMR1-related primary ovarian insufficiency" EXACT [] synonym: "fragile X-associated primary ovarian insufficiency" EXACT [] synonym: "Fragile X Premature Ovarian Failure" EXACT [] synonym: "POF1" EXACT [] synonym: "premature ovarian failure 1" EXACT [] xref: GARD:4480 xref: MIM:311360 xref: MONDO:0010706 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080858 name: primary ovarian insufficiency 2A def: "A primary ovarian insufficiency that has_material_basis_in mutation in the DIAPH2 gene on chromosome Xq22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9497258/ "DO"] synonym: "POF2A" EXACT [] synonym: "premature ovarian failure 2A" EXACT [] xref: MESH:C564498 xref: MIM:300511 xref: MONDO:0010350 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080859 name: primary ovarian insufficiency 2B alt_id: MIM:300604 def: "A primary ovarian insufficiency that has_material_basis_in mutation in the POF1B gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16773570/ "DO"] synonym: "POF1B-RELATED CONDITION" EXACT [] synonym: "POF2B" EXACT [] synonym: "premature ovarian failure 2B" EXACT [] xref: MESH:C564476 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080860 name: primary ovarian insufficiency 3 alt_id: MIM:608996 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the FOXL2 gene on chromosome 3q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12149404/ "DO"] synonym: "POF3" EXACT [] synonym: "premature ovarian failure 3" EXACT [] xref: MESH:C563816 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080861 name: primary ovarian insufficiency 4 def: "A primary ovarian insufficiency that has_material_basis_in caused by mutation in the BMP15 gene on chromosome Xp11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12836721/ "DO"] is_a: DOID:0080494 ! ovarian dysgenesis 2 is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2012-05-15T00:00:00Z [Term] id: DOID:0080862 name: primary ovarian insufficiency 5 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NOBOX gene on chromosome 7q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17701902/ "DO"] synonym: "POF5" EXACT [] synonym: "premature ovarian failure 5" EXACT [] xref: MESH:C566921 xref: MIM:611548 xref: MONDO:0012689 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2019-02-12T10:06:58Z [Term] id: DOID:0080863 name: primary ovarian insufficiency 6 alt_id: MIM:612310 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous or homozygous mutation in the FIGLA gene on chromosome 2p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18499083/ "DO"] synonym: "POF6" EXACT [] synonym: "premature ovarian failure 6" EXACT [] xref: MESH:C567351 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080864 name: primary ovarian insufficiency 7 alt_id: MIM:612964 def: "A primary ovarian insufficiency that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26523528/ "DO"] synonym: "ADRENAL INSUFFICIENCY, NR5A1-RELATED" NARROW [] synonym: "POF7" EXACT [] synonym: "premature ovarian failure 7" EXACT [] xref: MESH:C567838 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080865 name: primary ovarian insufficiency 8 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the STAG3 gene on chromosome 7q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24597867/ "DO"] synonym: "POF8" EXACT [] synonym: "premature ovarian failure 8" EXACT [] synonym: "primary ovarian failure 8" EXACT [] xref: MIM:615723 xref: MONDO:0014321 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080866 name: primary ovarian insufficiency 9 def: "A primary ovarian insufficiency that has_material_basis_in compound heterozygous mutation in the HFM1 gene on chromosome 1p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24597873/ "DO"] synonym: "POF9" EXACT [] synonym: "premature ovarian failure 9" EXACT [] xref: MIM:615724 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080867 name: primary ovarian insufficiency 10 def: "A primary ovarian insufficiency that is characterized by primary amenorrhea, hypergonadotropic ovarian insufficiency, and genomic instability in somatic cells and that has_material_basis_in homozygous mutation in the MCM8 gene on chromosome 20p. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25873734/ "DO"] synonym: "POF10" EXACT [] synonym: "premature ovarian failure 10" EXACT [] xref: MIM:612885 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: rgd creation_date: 2017-03-01T00:00:00Z [Term] id: DOID:0080868 name: primary ovarian insufficiency 11 def: "A primary ovarian insufficiency that is characterized by secondary amenorrhea and hypergonadotropic ovarian insufficiency, with elevated serum follicle-stimulating hormone levels before age 40 years and that has_material_basis_in heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26218421/ "DO"] synonym: "POF11" EXACT [] synonym: "premature ovarian failure 11" EXACT [] xref: MIM:616946 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080869 name: primary ovarian insufficiency 12 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the SYCE1 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25062452/ "DO"] synonym: "POF12" EXACT [] synonym: "premature ovarian failure 12" EXACT [] xref: MIM:616947 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2019-02-12T09:55:06Z [Term] id: DOID:0080870 name: primary ovarian insufficiency 13 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the MSH5 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28175301/ "DO"] synonym: "POF13" EXACT [] synonym: "premature ovarian failure 13" EXACT [] xref: MIM:617442 xref: MONDO:0044317 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080871 name: primary ovarian insufficiency 14 def: "A primary ovarian insufficiency that has_material_basis_in homozygous mutation in the GDF9 gene on chromosome 5q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29044499/ "DO"] synonym: "POF14" EXACT [] synonym: "premature ovarian failure 14" EXACT [] xref: MIM:618014 xref: MONDO:0044777 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080872 name: primary ovarian insufficiency 15 def: "A primary ovarian insufficiency that is characterized by onset of oligomenorrhea in the third decade of life, with small ovaries, reduced number of follicles, and elevated gonadotropic hormones and that has_material_basis_in homozygous mutation in the FANCM gene on chromosome 14q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29231814/ "DO"] synonym: "POF15" EXACT [] synonym: "premature ovarian failure 15" EXACT [] xref: MIM:618096 xref: MONDO:0054862 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080873 name: primary ovarian insufficiency 16 def: "A primary ovarian insufficiency that is characterized by onset of amenorrhea early in the fourth decade of life, accompanied by elevated follicle-stimulating hormone levels and low estradiol levels and that has_material_basis_in heterozygous mutation in the BNC1 gene on chromosome 15q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30010909/ "DO"] synonym: "genetic non-acquired premature ovarian failure" EXACT [] synonym: "POF16" EXACT [] synonym: "premature ovarian failure 16" EXACT [] xref: EFO:0010646 xref: MIM:618723 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080874 name: primary ovarian insufficiency 17 def: "A primary ovarian insufficiency that is characterized by early cessation of menses after initial menarche, with small ovaries and uterus and that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30489636/ "DO"] synonym: "POF17" EXACT [] synonym: "premature ovarian failure 17" EXACT [] xref: MIM:619146 is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0080875 name: IDH-mutant anaplastic astrocytoma def: "An anaplastic astrocytoma carrying IDH mutations. (DO)" [https://www.pathologyoutlines.com/topic/anaastroidhmutant.html "DO"] synonym: "ASTROCYTOMA IDH-MUTANT" RELATED [] xref: NCI:C185167 is_a: DOID:3078 ! anaplastic astrocytoma created_by: mtutaj creation_date: 2021-02-24T20:16:11Z [Term] id: DOID:0080876 name: IDH-wildtype anaplastic astrocytoma def: "An anaplastic astrocytoma lacking mutations in IDH1 or IDH2 genes. (DO)" [https://www.pathologyoutlines.com/topic/cnstumoranaastroIDHwild.html "DO"] xref: NCI:C129291 is_a: DOID:3078 ! anaplastic astrocytoma created_by: mtutaj creation_date: 2019-11-21T12:09:18Z [Term] id: DOID:0080877 name: astrocytoma, IDH-mutant, grade 4 def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of necrosis and/or microvascular proliferation or homozygous deletion of CDKN2A and/or CDKN2B genes. The term glioblastoma no longer applies to central nervous system WHO grade 4 IDH-mutant astrocytomas. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33692446/ "DO"] xref: ICDO:9445/3 xref: NCI:C167335 is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma created_by: mtutaj creation_date: 2020-06-26T10:54:07Z [Term] id: DOID:0080878 name: IDH-wildtype glioblastoma def: "A glioblastoma that is characterized by high cellularity, high mitotic activity, necrosis or microvascular proliferation and that lacks mutations in IDH genes. (DO)" [https://www.pathologyoutlines.com/topic/cnstumortumorglioIDHwild.html "DO"] xref: NCI:C39750 is_a: DOID:3068 ! glioblastoma created_by: slaulede creation_date: 2019-01-14T14:12:02Z [Term] id: DOID:0080879 name: histone mutated tumor def: "A high grade glioma that has_material_basis_in mutations in the genes encoding histones. (DO)" [https://www.annualreviews.org/doi/abs/10.1146/annurev-cancerbio-030617-050143 "DO"] synonym: "histone mutated tumour" EXACT [] is_a: DOID:3070 ! high grade glioma created_by: mtutaj creation_date: 2021-02-24T20:35:11Z [Term] id: DOID:0080880 name: diffuse glioma, H3 G34 mutant def: "A histone mutated tumor that has_material_basis_in mutations in codon 34 of the H3 histone family 3A protein. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30358620/ "DO"] xref: ICDO:9385/3 xref: NCI:C185371 is_a: DOID:0080879 ! histone mutated tumor created_by: mtutaj creation_date: 2021-02-24T20:39:11Z [Term] id: DOID:0080881 name: pleomorphic xanthoastrocytoma BRAF mutant def: "An anaplastic pleomorphic xanthoastrocytoma that has_material_basis_in BRAF mutations. (DO)" [https://www.futuremedicine.com/doi/10.2217/cns-2019-0009 "DO"] is_a: DOID:0080854 ! anaplastic pleomorphic xanthoastrocytoma created_by: mtutaj creation_date: 2019-06-11T11:14:07Z [Term] id: DOID:0080882 name: IDH-mutant and 1p/19q-codeleted oligodendroglioma def: "An anaplastic oligodendroglioma that has_material_basis_in IDH gene family mutation and combined whole-arm losses of 1p and 19q (1p/19q codeletion). (DO)" [https://www.nature.com/articles/s41598-020-68733-5 "DO", https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html "DO"] synonym: "anaplastic oligodendroglioma, IDH-mutant and 1p/19q-codeleted" EXACT [] xref: NCI:C129321 is_a: DOID:7154 ! anaplastic oligodendroglioma created_by: gthayman creation_date: 2019-04-10T05:26:22Z [Term] id: DOID:0080883 name: vitamin D-dependent rickets def: "A bone development disease that is characterized by softening and weakening of the bones, hypocalcemia, high levels of parathyroid hormone and hypophosphatemia. (DO)" [https://medlineplus.gov/genetics/condition/vitamin-d-dependent-rickets "DO"] xref: ICD9CM:268.0 xref: MONDO:0024299 is_a: DOID:0080006 ! bone development disease is_a: DOID:10609 ! rickets created_by: mtutaj creation_date: 2021-02-24T20:50:11Z [Term] id: DOID:0080884 name: vitamin D-dependent rickets type 2A alt_id: MIM:277440 alt_id: OMIA:001431 def: "A vitamin D-dependent rickets that is characterized by abnormally high levels of calcitriol and that has_material_basis_in mutation in the gene encoding the vitamin D receptor (VDR) on chromosome 12q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27705794/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO"] synonym: "generalized resistance to 1,25-dihydroxyvitamin D" EXACT [] synonym: "HVDRR" EXACT [] synonym: "HYPOCALCEMIC VITAMIN D-RESISTANT RICKETS" EXACT [] synonym: "PDDR IIA" EXACT [] synonym: "Pseudovitamin D-Deficiency, Type IIA" EXACT [] synonym: "rickets-alopecia syndrome" EXACT [] synonym: "VDDR2A" EXACT [] synonym: "vitamin D-deficiency rickets, type II" EXACT [] synonym: "vitamin D-dependent rickets type 2A, with or without alopecia" EXACT [] synonym: "vitamin D-resistant rickets with end-organ unresponsiveness to 1,25-dihydroxycholecalciferol" EXACT [] xref: MESH:C562794 xref: ORDO:93160 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080883 ! vitamin D-dependent rickets created_by: mtutaj creation_date: 2021-02-24T20:56:11Z [Term] id: DOID:0080885 name: vitamin D-dependent rickets type 2B alt_id: MIM:600785 def: "A vitamin D-dependent rickets that is characterized by abnormal expression of a hormone response element-binding protein that interferes with the normal function of the vitamin D receptor. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO"] synonym: "VDDR2B" EXACT [] synonym: "Vitamin D-Dependent Rickets, Type 2B, with Normal Vitamin D Receptor" EXACT [] xref: MESH:C567571 is_a: DOID:0080883 ! vitamin D-dependent rickets created_by: mtutaj creation_date: 2021-01-04T17:21:15Z [Term] id: DOID:0080886 name: vitamin D-dependent rickets type 1A alt_id: MIM:264700 alt_id: OMIA:000837 def: "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in mutation in the gene encoding 25-hydroxyvitamin D3-1-alpha-hydroxylase (CYP27B1) on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27705794/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO"] synonym: "1-alpha, 25-hydroxyvitamin D3 deficiency, selective" EXACT [] synonym: "1-Alpha-Hydroxylase Deficiency" EXACT [] synonym: "25-Hydroxycholecalciferol-1-Hydroxylase Deficiency" EXACT [] synonym: "CYP27B1-RELATED CONDITION" EXACT [] synonym: "PDDR1A" EXACT [] synonym: "PDDR IA" EXACT [] synonym: "Pseudovitamin D-Deficiency Rickets, Type IA" EXACT [] synonym: "VDD1" EXACT [] synonym: "VDDR1A" EXACT [] synonym: "vitamin D-deficiency rickets, type I" RELATED [] synonym: "Vitamin D Dependency, Type 1" EXACT [] synonym: "vitamin D hydroxylation-deficient rickets, type 1A" EXACT [] xref: MESH:C562688 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080883 ! vitamin D-dependent rickets created_by: mtutaj creation_date: 2021-02-24T21:11:11Z [Term] id: DOID:0080887 name: vitamin D-dependent rickets type 1B alt_id: MIM:600081 def: "A vitamin D-dependent rickets that is characterized by abnormally low levels of calcitriol and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the CYP2R1 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26365513/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7303887/ "DO"] synonym: "pseudovitamin D3 deficiency rickets due to 25-hydroxylase deficiency" EXACT [] synonym: "selective 25-hydroxyvitamin D3 deficiency" EXACT [] synonym: "VDDR1B" EXACT [] synonym: "vitamin D hydroxylation-deficient rickets, type 1B" EXACT [] xref: MESH:C564005 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080883 ! vitamin D-dependent rickets created_by: mtutaj creation_date: 2021-02-24T21:15:11Z [Term] id: DOID:0080888 name: spinal ependymoma, MYCN-amplified def: "A spinal cord ependymoma that is characterized by MYCN amplification. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6851394/ "DO"] synonym: "Spinal Cord Ependymoma, MYCN Amplified" EXACT [] synonym: "spinal ependymoma, MYCN" EXACT [] xref: NCI:C186494 is_a: DOID:5503 ! spinal cord ependymoma created_by: mtutaj creation_date: 2019-12-30T09:36:31Z [Term] id: DOID:0080889 name: posterior fossa ependymoma def: "A high grade ependymoma that is located within the posterior fossa. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26351223/ "DO", https://pubmed.ncbi.nlm.nih.gov/32502305/ "DO"] is_a: DOID:5074 ! high grade ependymoma created_by: mtutaj creation_date: 2021-02-24T21:21:11Z [Term] id: DOID:0080890 name: supratentorial ependymoma def: "A high grade ependymoma that is located within the supratentorial brain. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27858204/ "DO"] xref: ICDO:9391/3 is_a: DOID:5074 ! high grade ependymoma created_by: mtutaj creation_date: 2021-02-24T21:24:11Z [Term] id: DOID:0080891 name: YAP1-MAMLD1 fusion-positive supratentorial ependymoma def: "A supratentorial ependymoma that has_material_basis_in YAP1-MAMLD1 fusion. (DO)" [https://www.nature.com/articles/s41467-019-11884-5 "DO"] is_a: DOID:0080890 ! supratentorial ependymoma created_by: mtutaj creation_date: 2021-02-24T21:28:11Z [Term] id: DOID:0080892 name: RELA fusion-positive ependymoma def: "A supratentorial ependymoma that has_material_basis_in presence of a RELA fusion gene. (DO)" [https://www.pathologyoutlines.com/topic/cnstumorependymomarelafusion.html "DO"] synonym: "C11orf95 fusion-positive supratentorial ependymoma" EXACT [] synonym: "supratentorial C11ORF95-RELA fused ependymoma" EXACT [] xref: ICDO:9396/3 xref: NCI:C129351 xref: ORDO:530792 is_a: DOID:0080890 ! supratentorial ependymoma created_by: mtutaj creation_date: 2021-02-24T21:33:11Z [Term] id: DOID:0080893 name: Bainbridge-Ropers syndrome def: "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features and that has_material_basis_in heterozygous mutation in the ASXL3 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23383720/ "DO", https://pubmed.ncbi.nlm.nih.gov/23672984/ "DO", https://pubmed.ncbi.nlm.nih.gov/27901041/ "DO", https://pubmed.ncbi.nlm.nih.gov/32132929/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK563693/ "DO"] synonym: "ASXL3-related disorder" EXACT [] synonym: "BRPS" EXACT [] xref: GARD:13259 xref: MIM:615485 xref: ORDO:352577 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008514 ! Psychomotor Disorders created_by: rgd creation_date: 2017-10-19T14:54:04Z [Term] id: DOID:0080894 name: lipofibromatosis-like neural tumor def: "A connective tissue cancer that has_material_basis_in LMNA-NTRK1 gene fusion. (DO)" [https://clinicalsarcomaresearch.biomedcentral.com/articles/10.1186/s13569-020-00136-6 "DO", https://pubmed.ncbi.nlm.nih.gov/27259011/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993549/ "DO"] is_a: DOID:201 ! connective tissue cancer created_by: gthayman creation_date: 2019-04-19T13:25:27Z [Term] id: DOID:0080895 name: rapidly involuting congenital hemangioma def: "A hemangioma that is characterized by complete regression. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5786408/ "DO"] xref: NCI:C172207 xref: ORDO:141184 is_a: DOID:0080015 ! physical disorder is_a: DOID:255 ! hemangioma created_by: slaulede creation_date: 2019-01-16T15:52:05Z [Term] id: DOID:0080896 name: pericytoma with t(7;12) def: "A perivascular tumor that is characterized by a perivascular pattern of spindle-to-ovoid cell proliferation and that has_material_basis_in t(7;12)(p22;q13) translocation with resultant ACTB-GLI1 fusion. (DO)" [http://atlasgeneticsoncology.org/Tumors/Pericytomt0712ID5192.html "DO", https://pubmed.ncbi.nlm.nih.gov/30085941/ "DO"] is_a: DOID:3316 ! perivascular tumor created_by: mtutaj creation_date: 2020-02-27T13:41:52Z [Term] id: DOID:0080897 name: solitary fibrous tumor/hemangiopericytoma def: "A connective tissue cancer that is characterized as the combination of solitary fibrous tumors and hemangiopericytomas. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29521591/ "DO", https://thejns.org/view/journals/j-neurosurg/130/2/article-p418.xml "DO", https://www.sciencedirect.com/science/article/pii/S221475191830183X "DO"] xref: ICDO:8815/1 xref: ORDO:2126 is_a: DOID:264 ! hemangiopericytoma is_a: DOID:9002958 ! Solitary Fibrous Tumors created_by: mtutaj creation_date: 2021-02-24T22:01:11Z [Term] id: DOID:0080898 name: cerebellofaciodental syndrome def: "A syndrome that is characterized by delayed development, intellectual disability, abnormal facial and dental findings, and cerebellar hypoplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the BRF1 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27748960 "DO", https://pubmed.ncbi.nlm.nih.gov/32896090/ "DO"] synonym: "cerebellar-facial-dental syndrome" EXACT [] synonym: "CFDS" EXACT [] xref: EFO:0009030 xref: MIM:616202 xref: ORDO:444072 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:1091 ! tooth disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2021-02-24T22:05:11Z [Term] id: DOID:0080899 name: lung pleomorphic carcinoma def: "A pleomorphic carcinoma that is characterized by the presence of malignant glandular or squamous cells associated with malignant giant and spindle cells and that is located_in the lung. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31355240/ "DO"] xref: NCI:C45542 is_a: DOID:3905 ! lung carcinoma is_a: DOID:5662 ! pleomorphic carcinoma created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080900 name: oral rhabdomyosarcoma def: "A rhabdomyosarcoma located in the oral cavity. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3892211/ "DO"] is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:8618 ! oral cavity cancer created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0080901 name: bladder sarcomatoid transitional cell carcinoma def: "A sarcomatoid transitional cell carcinoma that is located_in the bladder. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30287139/ "DO"] is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:4014 ! sarcomatoid transitional cell carcinoma created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080902 name: bladder small cell carcinoma def: "A bladder carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29763719/ "DO"] is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:4007 ! bladder carcinoma created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080903 name: embryonal tumor with multilayered rosettes, C19MC-altered alt_id: DOID:4794 def: "An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). (DO)" [https://radiopaedia.org/articles/embryonal-tumours-with-multilayered-rosettes-etmr?lang=us "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ "DO"] synonym: "ependymoblastoma" EXACT [] synonym: "ependymoblastomas" EXACT [] xref: NCI:C4915 is_a: DOID:0081286 ! embryonal tumor with multilayered rosettes created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080904 name: astroblastoma, MN1-altered def: "An astroblastoma that is characterized by astroblastoma-like morphology with MN1 rearrangements involving the meningioma 1 (MN1) gene on chromosome 22q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31111274/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5843525/ "DO"] synonym: "CNS high-grade neuroepithelial tumors with MN1 alteration" EXACT [] is_a: DOID:7305 ! astroblastoma created_by: mtutaj creation_date: 2019-12-30T09:31:57Z [Term] id: DOID:0080905 name: central nervous system neuroblastoma def: "A central nervous system germ cell tumor that is characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation and that arising from the cerebral hemispheres. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29520437/ "DO"] is_a: DOID:4439 ! central nervous system germ cell tumor is_a: DOID:769 ! neuroblastoma created_by: mtutaj creation_date: 2020-10-27T16:34:12Z [Term] id: DOID:0080906 name: CNS neuroblastoma with FOXR2 activation def: "A central nervous system neuroblastoma that is characterized by FOXR2 activation and that is composed of small, round cells with hyperchromatic nuclei surrounded by a clear halo. (DO)" [https://link.springer.com/article/10.1007%2Fs10014-020-00370-2 "DO", https://www.ncbi.nlm.nih.gov/articles/PMC7350623/ "DO"] synonym: "central nervous system neuroblastoma with FOXR2 activation" EXACT [] synonym: "CNS NB-FOXR2" EXACT [] synonym: "CNS neuroblastoma, FOXR2-activated" EXACT [] xref: ICDO:9500/3 is_a: DOID:0080905 ! central nervous system neuroblastoma created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0080907 name: Cockayne syndrome A alt_id: DOID:9007866 def: "A Cockayne syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 8 excision repair cross-complementing protein on chromosome 5q11. (DO)" [https://medlineplus.gov/genetics/condition/cockayne-syndrome/ "DO"] synonym: "Cockayne syndrome, classical" EXACT [] synonym: "Cockayne syndrome type 1" EXACT [] synonym: "Cockayne syndrome type A" EXACT [] synonym: "CSA" EXACT [] synonym: "ERCC8-RELATED CONDITION" BROAD [] synonym: "group A Cockayne syndrome" EXACT [] synonym: "Type I Cockayne Syndrome" EXACT [] xref: GARD:1415 xref: MIM:216400 xref: MONDO:0019569 xref: NCI:C135725 is_a: DOID:2962 ! Cockayne syndrome created_by: mtutaj creation_date: 2021-04-29T19:14:01Z [Term] id: DOID:0080908 name: Cockayne syndrome B alt_id: DOID:9007951 def: "A Cockayne syndrome that is characterized by severe physical and mental retardation, microcephaly, progressive neurologic and retinal degeneration, skeletal abnormalities, gait defects, and sun sensitivity with no increased frequency of cancer, and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the group 6 excision repair cross-complementing protein on chromosome 10q11. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1342/ "DO"] synonym: "Cockayne syndrome 2" EXACT [] synonym: "Cockayne syndrome type B" EXACT [] synonym: "Cockayne syndrome type II" EXACT [] synonym: "congenital Cockayne syndrome" RELATED [] synonym: "CSB" EXACT [] synonym: "group B Cockayne syndrome" EXACT [] xref: GARD:1420 xref: MIM:133540 xref: NCI:C135726 is_a: DOID:2962 ! Cockayne syndrome created_by: mtutaj creation_date: 2021-04-29T19:16:48Z [Term] id: DOID:0080909 name: castration-resistant prostate carcinoma alt_id: DOID:9004674 def: "A prostate carcinoma that is characterized by continued growth and spread despite the surgical removal of the testes or medical intervention to block androgen production. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30324351/ "DO"] synonym: "Androgen Independent Prostatic Cancer" EXACT [] synonym: "androgen-independent prostatic cancers" EXACT [] synonym: "Androgen-Independent Prostatic Neoplasm" EXACT [] synonym: "Androgen Independent Prostatic Neoplasms" EXACT [] synonym: "Androgen Insensitive Prostatic Cancer" EXACT [] synonym: "Androgen-Insensitive Prostatic Cancers" EXACT [] synonym: "Androgen-Insensitive Prostatic Neoplasm" EXACT [] synonym: "Androgen Insensitive Prostatic Neoplasms" EXACT [] synonym: "Androgen Resistant Prostatic Cancer" EXACT [] synonym: "Androgen-Resistant Prostatic Cancers" EXACT [] synonym: "Androgen-Resistant Prostatic Neoplasm" EXACT [] synonym: "Androgen Resistant Prostatic Neoplasms" EXACT [] synonym: "Castration Resistant Prostatic Cancer" EXACT [] synonym: "Castration-Resistant Prostatic Cancers" EXACT [] synonym: "Castration-Resistant Prostatic Neoplasm" EXACT [] synonym: "Castration-Resistant Prostatic Neoplasms" EXACT [] synonym: "Hormone Refractory Prostatic Cancer" EXACT [] synonym: "hormone refractory prostatic neoplasms" EXACT [] xref: MESH:D064129 xref: MONDO:0019570 xref: NCI:C130234 is_a: DOID:10286 ! prostate carcinoma created_by: mtutaj creation_date: 2021-04-29T19:18:28Z [Term] id: DOID:0080910 name: cerebrooculofacioskeletal syndrome alt_id: DOID:9007995 def: "A Cockayne syndrome that is characterized by very severe prenatal developmental anomalies including microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1342/ "DO"] synonym: "CEREBRO-OCULO-FACIO-SKELETAL SYNDROME" EXACT [] synonym: "COFS" EXACT [] synonym: "COFS syndrome" EXACT [] xref: GARD:6027 xref: MIM:PS214150 xref: NCI:C3817 is_a: DOID:2962 ! Cockayne syndrome created_by: mtutaj creation_date: 2021-04-29T19:21:48Z [Term] id: DOID:0080911 name: cerebrooculofacioskeletal syndrome 1 alt_id: DOID:9003294 alt_id: MIM:214150 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20456449/ "DO"] synonym: "COFS1" EXACT [] synonym: "Pena-Shokeir syndrome, type II" EXACT [] xref: MESH:C562434 xref: NCI:C173085 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome created_by: mtutaj creation_date: 2021-04-29T19:24:27Z [Term] id: DOID:0080912 name: cerebrooculofacioskeletal syndrome 2 alt_id: DOID:9007127 alt_id: MIM:610756 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in compound heterozygous mutation in the DNA repair gene XPD (ERCC2) on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11443545/ "DO"] synonym: "COFS2" EXACT [] xref: MESH:C565185 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1059 ! intellectual disability is_a: DOID:83 ! cataract is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-04-29T19:25:42Z [Term] id: DOID:0080913 name: cerebrooculofacioskeletal syndrome 3 alt_id: DOID:9001554 alt_id: MIM:616570 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24700531/ "DO"] synonym: "COFS3" EXACT [] xref: MESH:C565035 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome created_by: mtutaj creation_date: 2021-04-29T19:25:50Z [Term] id: DOID:0080914 name: cerebrooculofacioskeletal syndrome 4 alt_id: DOID:9003501 alt_id: MIM:610758 def: "A cerebrooculofacioskeletal syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC1 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23623389/ "DO"] synonym: "COFS4" EXACT [] xref: MESH:C565184 xref: NCI:C173104 is_a: DOID:0080910 ! cerebrooculofacioskeletal syndrome is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1059 ! intellectual disability is_a: DOID:83 ! cataract is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-04-29T19:25:58Z [Term] id: DOID:0080915 name: histiocytic sarcoma alt_id: DOID:8580 alt_id: DOID:9006442 def: "A histiocytic and dendritic cell cancer that is characterized by the presence of neoplastic cells with morphologic and immunophenotypic characteristics similar to those seen in mature histiocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520642/ "DO"] synonym: "histiocytic medullary reticulosis" EXACT [] synonym: "histiocytic sarcomas" EXACT [] synonym: "malignant histiocytoses" EXACT [] synonym: "malignant histiocytosis" EXACT [] synonym: "malignant midline reticulosis" EXACT [] synonym: "malignant reticulosis" EXACT [] synonym: "Stewart's granuloma" EXACT [] synonym: "true histiocytic lymphoma" EXACT [] synonym: "true histiocytic lymphomas" EXACT [] synonym: "true malignant histiocytoses" EXACT [] synonym: "true malignant histiocytosis" EXACT [] xref: EFO:1001499 xref: ICDO:9755/3 xref: MESH:D054747 xref: NCI:C128125 xref: NCI:C21886 xref: NCI:C27349 xref: NCI:C60419 xref: NCI:C7202 is_a: DOID:2570 ! malignant histiocytic disease is_a: DOID:5621 ! histiocytic and dendritic cell cancer created_by: mtutaj creation_date: 2021-04-29T19:29:08Z [Term] id: DOID:0080916 name: erythroleukemia alt_id: DOID:9002149 def: "An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5857409/ "DO"] synonym: "Acute Erythroblastic Leukemia" EXACT [] synonym: "acute erythroblastic leukemias" EXACT [] synonym: "acute myeloid leukemia, M6" EXACT [] synonym: "Di Guglielmo's Disease" EXACT [] synonym: "Di Guglielmo Disease" EXACT [] synonym: "Di Guglielmos Disease" EXACT [] synonym: "Erythremic Myeloses" EXACT [] synonym: "Erythremic Myelosis" EXACT [] synonym: "Erythroleukemias" EXACT [] xref: EFO:1001257 xref: EFO:1001955 xref: MESH:D004915 xref: NCI:C135722 xref: NCI:C7152 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:0080780 ! acute erythroid leukemia created_by: mtutaj creation_date: 2021-04-29T19:33:07Z [Term] id: DOID:0080917 name: sporadic amyotrophic lateral sclerosis def: "An amyotrophic lateral sclerosis that is characterized by random occurance of ALS without any known cause or familial member with ALS. (DO)" [https://stanfordhealthcare.org/medical-conditions/brain-and-nerves/amyotrophic-lateral-sclerosis/types/sporadic-amyotrophic-lateral-sclerosis.html "DO"] xref: EFO:0001357 xref: MONDO:0005145 is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2021-04-29T19:39:22Z [Term] id: DOID:0080918 name: polymicrogyria alt_id: DOID:9004861 def: "A brain disease that is characterized by malformation of the developing brain characterized by abnormal cortical lamination and an unusual folding pattern of the cerebral cortex such that all or part of the brain surface is taken up by an excessive number of small folds (gyri). (DO)" [https://pubmed.ncbi.nlm.nih.gov/10489031/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1329/ "DO"] synonym: "Cerebral Micropolygyria" EXACT [] synonym: "Cerebral Micropolygyrias" EXACT [] synonym: "Cerebral Polymicrogyria" EXACT [] synonym: "Cerebral Polymicrogyrias" EXACT [] synonym: "Micropolygyria" EXACT [] synonym: "Micropolygyrias" EXACT [] synonym: "Polymicrogyrias" EXACT [] xref: MESH:D065706 xref: NCI:C116936 is_a: DOID:9001684 ! Malformations of Cortical Development, Group III created_by: mtutaj creation_date: 2021-04-29T19:40:47Z [Term] id: DOID:0080919 name: unilateral focal polymicrogyria def: "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that affects only one small region of the brain and that may show no neurologic involvement. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1329/ "DO"] xref: ORDO:268947 is_a: DOID:0080918 ! polymicrogyria created_by: mtutaj creation_date: 2021-04-29T19:44:13Z [Term] id: DOID:0080920 name: bilateral generalized polymicrogyria def: "A polymicrogyria that is characterized severe intellectual disability, problems with movement, and seizures and that affects the entire brain. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1329/ "DO"] is_a: DOID:0080918 ! polymicrogyria created_by: mtutaj creation_date: 2021-04-29T19:45:47Z [Term] id: DOID:0080921 name: bilateral frontal polymicrogyria def: "A polymicrogyria that is characterized as a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. (DO)" [https://en.wikipedia.org/wiki/Polymicrogyria#Unilateral_polymicrogyria "DO", https://rarediseases.info.nih.gov/diseases/10783/bilateral-frontal-polymicrogyria "DO"] xref: GARD:10783 xref: ORDO:208444 is_a: DOID:0080918 ! polymicrogyria created_by: mtutaj creation_date: 2021-04-29T19:47:22Z [Term] id: DOID:0080922 name: bilateral frontoparietal polymicrogyria alt_id: DOID:9002736 alt_id: MIM:606854 def: "A polymicrogyria that is characterized by excessive cortical folding and abnormal cortical layering, that involves the frontoparietal region of the brain and that presents with hypotonia, developmental delay, moderate to severe intellectual disability, pyramidal signs, epileptic seizures, non progressive cerebellar ataxia, dysconjugate gaze and/or strabismus and that has_material_basis_in homozygous mutation in the ADGRG1 gene on chromosome 16q21. (DO)" [https://rarediseases.info.nih.gov/diseases/10784/bilateral-frontoparietal-polymicrogyria/cases/32002 "DO"] synonym: "BFPP" EXACT [] synonym: "CDCBM14A" EXACT [] synonym: "Cerebellar Ataxia with Neuronal Migration Defect" EXACT [] synonym: "complex cortical dysplasia with other brain malformations 14A, (bilateral frontoparietal)" EXACT [] xref: GARD:10784 xref: MESH:C564652 xref: NCI:C148367 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080918 ! polymicrogyria created_by: mtutaj creation_date: 2021-04-29T19:48:25Z [Term] id: DOID:0080923 name: bilateral parasagittal parieto-occipital polymicrogyria alt_id: DOID:9004690 alt_id: MIM:612691 def: "A polymicrogyria that is characterized by bilateral malformation of cortical development, centered around the parasagittal and mesial aspects of the parietooccipital cortex and that has_material_basis_in homozygous mutation in the FIG4 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10690985/ "DO", https://pubmed.ncbi.nlm.nih.gov/9005867/ "DO"] synonym: "BTOP" EXACT [] synonym: "Polymicrogyria, Bilateral Occipital" EXACT [] synonym: "POLYMICROGYRIA, BILATERAL TEMPOROOCCIPITAL" EXACT [] xref: GARD:10785 xref: MESH:C567201 xref: ORDO:208441 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080918 ! polymicrogyria created_by: mtutaj creation_date: 2021-04-29T19:51:05Z [Term] id: DOID:0080924 name: bilateral perisylvian polymicrogyria alt_id: DOID:9003520 alt_id: MIM:300388 alt_id: MIM:615752 def: "A polymicrogyria that is characterized by strikingly restricted polymicrogyria limited to the cortex surrounding the Sylvian fissure and that has_material_basis_in homozygous deletion of one 15-bp tandem repeat in a regulatory region of exon 1m of the ADGRG1 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24531968/ "DO"] synonym: "bilateral perisylvian polymicrogyria with autosomal recessive inheritance" NARROW [] synonym: "BPP" EXACT [] synonym: "BPPR" NARROW [] synonym: "BPPX" EXACT [] synonym: "CBPS" EXACT [] synonym: "CDCBM14B" EXACT [] synonym: "complex cortical dysplasia with other brain malformations 14B, (bilateral perisylvian)" EXACT [] synonym: "Congenital bilateral perisylvian syndrome" EXACT [] synonym: "Perisylvian Syndrome" EXACT [] synonym: "PMGX" EXACT [] synonym: "POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE" NARROW [] synonym: "POLYMICROGYRIA, BILATERAL PERISYLVIAN, X-LINKED" EXACT [] xref: GARD:6011 xref: MESH:C536658 xref: ORDO:98889 is_a: DOID:0080918 ! polymicrogyria is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2021-04-29T19:56:42Z [Term] id: DOID:0080925 name: cytochrome P450 oxidoreductase deficiency def: "A steroid inherited metabolic disorder that is characterized by combined deficiency of P450C17 and P450C21 and accumulation of steroid metabolites and that has_material_basis_in homozygous or compound heterozygous mutations in the POR gene, which encodes cytochrome p450 oxidoreductase, on chromosome 7q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1419/ "DO"] synonym: "congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency" EXACT [] synonym: "disordered steroidogenesis due to cytochrome P450 oxidoreductase deficiency" EXACT [] synonym: "DISORDERED STEROIDOGENESIS DUE TO POR DEFICIENCY" EXACT [] xref: GARD:12664 xref: MIM:613571 xref: NCI:C131302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1701 ! steroid inherited metabolic disorder created_by: mtutaj creation_date: 2021-04-29T20:01:27Z [Term] id: DOID:0080926 name: 7q11.23 duplication syndrome alt_id: DOID:9002292 alt_id: MIM:609757 def: "A chromosomal duplication syndrome that is characterized by motor, speech and language delay, behavior problems, intellectual disability, low muscle tone (hypotonia), an increased head circumference (macrocephaly), facial dysmorphism, seizures, brain abnormalities, and heart defects such as enlargement of the blood vessel that carries blood from the heart to the rest of the body (aortic dilatation) and that has_material_basis_in an extra copy of a region of the long arm of chromosome 7. (DO)" [https://medlineplus.gov/genetics/condition/7q1123-duplication-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK327268/ "DO"] synonym: "7q11.23 microduplication syndrome" EXACT [] synonym: "chromosome 7q11.23 duplication syndrome" EXACT [] synonym: "chromosome 7q11.23 triplication syndrome" NARROW [] synonym: "Somerville-Van der Aa syndrome" NARROW [] synonym: "WBS duplication syndrome" EXACT [] synonym: "WBS triplication syndrome" NARROW [] synonym: "William-Beuren region duplication syndrome" EXACT [] synonym: "Williams-Beuren Region Duplication Syndrome" EXACT [] xref: GARD:12076 xref: MESH:C565723 xref: NCI:C165597 xref: ORDO:96121 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:1928 ! Williams-Beuren syndrome created_by: mtutaj creation_date: 2021-04-29T20:07:19Z [Term] id: DOID:0080927 name: apolipoprotein A-IV associated amyloidosis def: "An amyloidosis that is characterized by slowly progressive renal dysfunction, increased serum creatinine, mostly normal urine analysis with no significant proteinuria and associated heart disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27262366/ "DO"] synonym: "AApoAIV amyloidosis" EXACT [] synonym: "renal AApoAIV amyloidosis" EXACT [] xref: ORDO:439232 is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T20:09:58Z [Term] id: DOID:0080928 name: dialysis-related amyloidosis def: "An amyloidosis that is characterized by the deposition of amyloid fibrils, principally composed of β2 microglobulins (β2M), in the osteoarticular structures and viscera and that is a serious complication of long-term dialysis therapy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5153266/ "DO"] synonym: "ABeta2M amyloidosis" EXACT [] synonym: "Amyloidosis Beta2M" EXACT [] synonym: "Aβ2M amyloidosis" EXACT [] synonym: "Beta2-microglobulinic amyloidosis" EXACT [] synonym: "dialysis-related beta2-microglobulin amyloidosis" EXACT [] xref: GARD:0010563 xref: ORDO:439246 is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T20:11:52Z [Term] id: DOID:0080929 name: variant ABeta2M amyloidosis def: "An amyloidosis that is characterized by accumulation and extensive visceral deposition of anamyloidogenic variant of beta 2 microglobulin leading to progressive gastrointestinal dysfunction, Sjögren syndrome and autonomic neuropathy. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32392555/ "DO"] synonym: "Autosomal dominant beta2-microglobulinic amyloidosis" EXACT [] xref: ORDO:314652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T20:13:47Z [Term] id: DOID:0080930 name: primary localized cutaneous amyloidosis 1 alt_id: DOID:9003043 def: "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the gene encoding oncostatin M receptor-beta (OSMR) on chromosome 5p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19663869/ "DO"] synonym: "AMYLOIDOSIS, PRIMARY CUTANEOUS, 1" EXACT [] synonym: "familial primary localized cutaneous amyloidosis-1" EXACT [] synonym: "PCA1" EXACT [] synonym: "PLCA1" EXACT [] xref: MIM:105250 xref: NCI:C189282 is_a: DOID:0050639 ! primary cutaneous amyloidosis created_by: mtutaj creation_date: 2021-04-29T20:15:10Z [Term] id: DOID:0080931 name: primary localized cutaneous amyloidosis 2 alt_id: DOID:9005272 def: "A primary cutaneous amyloidosis that has_material_basis_in heterozygous mutation in the IL31RA gene on chromosome 5q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19663869/ "DO"] synonym: "PLCA2" EXACT [] xref: MIM:613955 is_a: DOID:0050639 ! primary cutaneous amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:28:06Z [Term] id: DOID:0080932 name: primary localized cutaneous amyloidosis 3 alt_id: DOID:9009134 def: "A primary cutaneous amyloidosis that is characterized by deposits of keratinocyte-derived amyloid in the skin and that has_material_basis_in homozygous or compound heterozygous mutation in the GPNMB gene on chromosome 7p15. Onset occurs before puberty and involves macular or reticulate hyperpigmentation admixed with symmetrically distributed guttate hypopigmented and hyperpigmented lesions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25866143/ "DO"] synonym: "ACD" EXACT [] synonym: "amyloidosis cutis dyschromica" EXACT [] synonym: "PLCA3" EXACT [] xref: MIM:617920 is_a: DOID:0050639 ! primary cutaneous amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:29:30Z [Term] id: DOID:0080933 name: immunoglobulin light chain amyloidosis alt_id: DOID:9005869 def: "An amyloidosis that is characterized by misfolded and aggregated amyloidogenic immunoglobulin light chains produced by marrow clonal plasma cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26771835/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5841939/ "DO"] synonym: "AL amyloidosis" EXACT [] synonym: "Light chain amyloidosis" EXACT [] synonym: "Primary AL amyloidosis" EXACT [] synonym: "primary amyloid" EXACT [] synonym: "Primary Amyloidosis" EXACT [] synonym: "Primary systemic AL amyloidosis" EXACT [] synonym: "Primary Systemic Amyloidosis" EXACT [] synonym: "systemic AL amyloidsis" EXACT [] xref: ICD10CM:E85.81 xref: MESH:D000075363 xref: MONDO:0019438 xref: NCI:C158963 is_a: DOID:114 ! heart disease is_a: DOID:409 ! liver disease is_a: DOID:557 ! kidney disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9007454 ! amyloidoma is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:31:04Z [Term] id: DOID:0080934 name: immunoglobulin heavy chain amyloidosis def: "An amyloidosis that is characterized by the aggregation and deposition of amyloid fibrils composed of monoclonal immunoglobulin heavy-chain fragments, usually produced by a plasma cell neoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32703752/ "DO"] synonym: "AH amyloidosis" EXACT [] synonym: "Amyloidosis derived from immunoglobulin heavy chain" EXACT [] synonym: "Heavy chain amyloidosis" EXACT [] synonym: "Ig heavy-chainâ??associated amyloidosis" EXACT [] xref: ORDO:442582 is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:34:07Z [Term] id: DOID:0080935 name: immunoglobulin heavy-and-light chain def: "An amyloidosis that is characterized by both Ig heavy chains and LC contribute to the amyloid fibrils. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23302715/ "DO"] synonym: "AH/AL amyloidosis" EXACT [] synonym: "Ig heavy-and-light-chain amyloidosis" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:35:58Z [Term] id: DOID:0080936 name: serum amyloid A amyloidosis def: "An amyloidosis that is characterized by sustained high levels of inflammatory serum amyloid A protein when inflammation is present in the body. (DO)" [https://my.clevelandclinic.org/health/diseases/17854-amyloidosis-aa "DO"] synonym: "AA amyloidosis" EXACT [] synonym: "Apo serum amyloid A amyloidosis" EXACT [] synonym: "inflammation AA amyloidosis" EXACT [] synonym: "secondary amyloidosis" EXACT [] xref: ICD10CM:E85.3 is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:2529 ! splenic disease is_a: DOID:409 ! liver disease is_a: DOID:557 ! kidney disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:36:56Z [Term] id: DOID:0080937 name: wild-type amyloidosis def: "An amyloidosis that is characterized by progressive instability, misfolding and formation of amloid fibrils of the transthyretin protein. (DO)" [https://my.clevelandclinic.org/health/diseases/17855-amyloidosis-attr "DO"] synonym: "Age related amyloidosis" EXACT [] synonym: "ATTRwt amyloidosis" EXACT [] synonym: "Old age amyloidosis" EXACT [] synonym: "senile systemic amyloidosis" EXACT [] synonym: "wild-type ATTR amyloidosis" EXACT [] synonym: "wild-type transthyretin cardiac amyloidosis" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:114 ! heart disease is_a: DOID:9120 ! amyloidosis created_by: mtutaj creation_date: 2021-04-29T21:38:35Z [Term] id: DOID:0080938 name: nonobstructive coronary artery disease def: "A coronary artery disease that is characterized by atherosclerotic plaque that would not be expected to obstruct blood flow or result in anginal symptoms and stenosis of coronary artery less than 50 percent. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25369489/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6536284/ "DO"] synonym: "non-CAD" EXACT [] synonym: "non-obstructive coronary artery disease" EXACT [] xref: EFO:1001483 is_a: DOID:3393 ! coronary artery disease created_by: mtutaj creation_date: 2021-06-03T18:11:48Z [Term] id: DOID:0080939 name: hereditary angioedema type I alt_id: DOID:9003826 def: "A hereditrary angioedema that has_material_basis_in heterozygous mutation in the C1 inhibitor gene (C1NH, SERPING1) on chromosome 11q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11161971/ "DO"] synonym: "deficiency of C1 esterase inhibitor" EXACT [] synonym: "HAE1" EXACT [] synonym: "HAE2" RELATED [] synonym: "hereditary angioedema, autosomal recessive" EXACT [] synonym: "hereditary angioedema type 1" EXACT [] synonym: "hereditary angioedema type II" RELATED [] synonym: "hereditary angioedema types I and II" BROAD [] synonym: "HEREDITARY ANGIOEDEMA WITH C1INH DEFICIENCY" EXACT [] synonym: "hereditary C1 esterase inhibitor deficiency - dysfunctional factor" EXACT [] xref: MESH:D056829 xref: MIM:106100 xref: MONDO:0033946 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060002 ! C1 inhibitor deficiency is_a: DOID:14735 ! hereditary angioedema created_by: mtutaj creation_date: 2021-06-03T18:13:17Z [Term] id: DOID:0080940 name: hereditary angioedema type III alt_id: DOID:9004475 alt_id: MIM:610618 def: "A hereditary angioedema that is characterized clinically by recurrent skin swelling, abdominal pain attacks, and potentially life-threatening upper airway obstruction and that has_material_basis_in heterozygous mutation in the gene encoding coagulation factor XII (F12) on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16638441/ "DO"] synonym: "estrogen related HAE" EXACT [] synonym: "Estrogen Sensitive HAE" EXACT [] synonym: "Estrogen Sensitive Hereditary Angioedema" EXACT [] synonym: "Estrogen-Sensitive Hereditary Angioedemas" EXACT [] synonym: "HAE3" EXACT [] synonym: "HAE III" EXACT [] synonym: "HAE with normal C1 inhibitor concentration and function" EXACT [] synonym: "hereditary angioedema 3" EXACT [] synonym: "hereditary angioedema with normal C1 inhibitor activity" EXACT [] synonym: "hereditary angioneurotic edema with normal C1 inhibitor concentration and function" EXACT [] xref: MESH:D056828 is_a: DOID:14735 ! hereditary angioedema created_by: mtutaj creation_date: 2021-06-03T18:17:35Z [Term] id: DOID:0080941 name: acquired angioedema alt_id: DOID:9003616 alt_id: DOID:9005537 alt_id: MIM:300909 def: "An angioedema that is characterized by an acquired deficiency of (C1-INH) caused by either consumption or inactivation. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK430889/ "DO"] synonym: "AEACEI" EXACT [] synonym: "Angioedema Induced by ACE Inhibitors" EXACT [] synonym: "angioedema induced by ace inhibitors, susceptibility to" RELATED [] xref: MESH:C538173 is_a: DOID:1558 ! angioedema created_by: mtutaj creation_date: 2021-06-03T18:19:33Z [Term] id: DOID:0080942 name: anauxetic dysplasia alt_id: DOID:9009210 def: "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK84550/ "DO"] synonym: "anauxetic dysplasias" EXACT [] xref: MIM:PS607095 xref: ORDO:93347 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2021-06-03T17:53:20Z [Term] id: DOID:0080943 name: 46,XX sex reversal 5 alt_id: DOID:9009108 def: "A 46,XX sex reversal that is characterized by genital virilization in 46,XX individuals, associated with congenital heart disease and variable somatic anomalies including blepharophimosis-ptosis-epicanthus inversus syndrome and congenital diaphragmatic hernia and that has_material_basis_in heterozygous mutation in the NR2F2 gene on chromosome 15q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29478779/ "DO"] synonym: "SRXX5" EXACT [] xref: MIM:618901 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111760 ! 46,XX sex reversal created_by: mtutaj creation_date: 2021-06-03T18:26:15Z [Term] id: DOID:0080944 name: familial Behcet-like autoinflammatory syndrome 1 alt_id: DOID:9003185 def: "A primary immunodeficiency disease that is characterized by characterized by ulceration of mucosal surfaces, particularly in the oral and genital areas and that has_material_basis_in heterozygous mutation in the TNFAIP3 gene on chromosome 6q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26642243/ "DO"] synonym: "A20 haploinsufficiency" EXACT [] synonym: "AIFBL1" EXACT [] synonym: "AISBL" EXACT [] synonym: "TNFAIP3-RELATED CONDITION" EXACT [] xref: EFO:0020034 xref: MIM:616744 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005986 ! Familial Behcet-Like Autoinflammatory Syndrome created_by: mtutaj creation_date: 2021-06-03T18:29:30Z [Term] id: DOID:0080945 name: abdominal obesity-metabolic syndrome 4 alt_id: DOID:9002105 def: "An abdominal obesity-metabolic syndrome that is characterized by obesity, hypertension, and early-onset coronary artery disease and that has_material_basis_in heterozygous mutation in the CELA2A gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31358993/ "DO"] synonym: "AOMS4" EXACT [] xref: MIM:618620 is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome created_by: mtutaj creation_date: 2021-06-03T18:33:57Z [Term] id: DOID:0080946 name: retinal dystrophy with leukodystrophy alt_id: DOID:9003874 def: "A peroxisomal disease that is characterized by a peroxisomal enzyme deficiency caused by impaired very long chain fatty acid (VLCFA) metabolism and that has_material_basis_in homozygous mutation in the ACBD5 gene on chromosome 10p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27799409/ "DO"] synonym: "ACBD5 deficiency" EXACT [] synonym: "RDLKD" EXACT [] xref: EFO:0010738 xref: MIM:618863 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:5679 ! retinal disease is_a: DOID:906 ! peroxisomal disease created_by: slaulede creation_date: 2020-08-14T13:34:34Z [Term] id: DOID:0080947 name: acute flaccid myelitis def: "A myelitis that is characterized by acute onset of flaccid weakness of one or more limbs. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7909727/ "DO"] synonym: "acute flaccid paralysis" EXACT [] xref: MESH:C000629404 is_a: DOID:322 ! myelitis created_by: mtutaj creation_date: 2021-06-03T18:41:54Z [Term] id: DOID:0080948 name: agenesis of corpus callosum, cardiac, ocular, and genital syndrome alt_id: DOID:9003161 def: "A syndrome that is characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31585109/ "DO"] synonym: "ACOGS" EXACT [] xref: MIM:618929 is_a: DOID:114 ! heart disease is_a: DOID:15 ! reproductive system disease is_a: DOID:225 ! syndrome is_a: DOID:5614 ! eye disease is_a: DOID:9001999 ! Agenesis of Corpus Callosum created_by: slaulede creation_date: 2020-09-03T17:00:13Z [Term] id: DOID:0080949 name: alcoholic ketoacidosis def: "A metabolic acidosis that is characterized by the buildup of ketones in the blood due to alcohol use. Ketones are a type of acid that form when the body breaks down fat for energy. (DO)" [https://medlineplus.gov/ency/article/000323.htm "DO"] is_a: DOID:0050758 ! metabolic acidosis created_by: mtutaj creation_date: 2021-06-03T18:47:13Z [Term] id: DOID:0080950 name: alopecia-mental retardation syndrome 4 alt_id: DOID:9008723 def: "An alopecia-mental retardation syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LSS gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30723320/ "DO"] synonym: "alopecia-intellectual disability syndrome 4" EXACT [] synonym: "APMR4" EXACT [] xref: MIM:618840 xref: MONDO:0030009 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome created_by: mtutaj creation_date: 2020-04-08T12:55:10Z [Term] id: DOID:0080951 name: alopecia-mental retardation syndrome 3 alt_id: DOID:9005500 def: "An alopecia-mental retardation syndrome that has_material_basis_in variation in chromosome 18q11.2–q12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17451405/ "DO"] synonym: "alopecia-intellectual disability syndrome 3" EXACT [] synonym: "APMR3" EXACT [] xref: MIM:613930 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080627 ! alopecia-mental retardation syndrome created_by: mtutaj creation_date: 2021-06-03T18:52:32Z [Term] id: DOID:0080952 name: AMED syndrome alt_id: DOID:9000959 def: "A syndrome that is characterized by global developmental delay with impaired intellectual development, onset of bone marrow failure and myelodysplastic syndrome in childhood, and poor overall growth with short stature and that has_material_basis_in homozygous or compound heterozygous mutation in the ADH5 gene on chromosome 4q accompanied by a specific homozygous or heterozygous allele in the ALDH2 gene (E504K) on chromosome 12q24. Defects in both of these genes are necessary for the disorder to manifest, consistent with digenic inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33355142/ "DO"] synonym: "AMEDS" EXACT [] synonym: "AMED SYNDROME, DIGENIC" EXACT [] synonym: "BMFS7" EXACT [] synonym: "BONE MARROW FAILURE SYNDROME 7, DIGENIC" EXACT [] xref: MIM:619151 xref: NCI:C185246 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:0080578 ! digenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2021-02-09T13:44:23Z [Term] id: DOID:0080953 name: amelogenesis imperfecta type 1J alt_id: DOID:9002499 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ACPT on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27843125/ "DO"] synonym: "AI1J" EXACT [] synonym: "Amelogenesis Imperfecta Type IJ" EXACT [] xref: EFO:0009302 xref: MIM:617297 xref: MONDO:0015008 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta created_by: mtutaj creation_date: 2021-06-03T19:00:06Z [Term] id: DOID:0080954 name: arthrogryposis multiplex congenita alt_id: DOID:0110631 alt_id: DOID:9000338 def: "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/arthrogryposis "DO", https://www.merckmanuals.com/professional/pediatrics/congenital-craniofacial-and-musculoskeletal-abnormalities/arthrogryposis-multiplex-congenita "DO"] synonym: "amyoplasia congenita" EXACT [] synonym: "arthrogryposes" EXACT [] synonym: "Arthrogryposis" EXACT [] synonym: "arthrogryposis due to muscular dystrophy" RELATED [] synonym: "arthrogryposis multiplex congenita (AMC)" EXACT [] synonym: "Congenital Arthromyodysplasia" EXACT [] synonym: "congenital arthromyodysplasias" EXACT [] synonym: "Congenital Multiple Arthrogryposes" EXACT [] synonym: "Congenital Multiple Arthrogryposis" EXACT [] synonym: "congenital muscular dystrophy producing arthrogryposis" RELATED [] synonym: "Fibrous Ankylosis of Multiple Joints" EXACT [] synonym: "Guerin Stern Syndrome" EXACT [] synonym: "Guérin Stern Syndrome" EXACT [] synonym: "muscular dystrophy and arthrogryposis" EXACT [] synonym: "myodystrophia fetalis deformans" EXACT [] synonym: "Otto syndrome" EXACT [] synonym: "Rocher Sheldon syndrome" EXACT [] synonym: "Rossi syndrome" EXACT [] xref: EFO:0003857 xref: GARD:777 xref: ICD10CM:M62.8 xref: MESH:C564985 xref: MESH:D001176 xref: MIM:PS617468 xref: MONDO:0015168 xref: NCI:C84572 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080000 ! muscular disease is_a: DOID:0080015 ! physical disorder is_a: DOID:381 ! arthropathy is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: mtutaj creation_date: 2021-06-03T19:02:48Z [Term] id: DOID:0080956 name: childhood supratentorial embryonal tumor with multilayered rosettes, C19MC-altered def: "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the supratentorial brain and occurs in children. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6772 "DO"] xref: NCI:C6772 is_a: DOID:7841 ! childhood embryonal tumor with multilayered rosettes, C19MC-altered created_by: mtutaj creation_date: 2021-06-03T19:11:00Z [Term] id: DOID:0080957 name: primary hypoalphalipoproteinemia 1 alt_id: DOID:9001933 alt_id: MIM:604091 def: "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease. (DO)" [https://medlineplus.gov/genetics/condition/familial-hdl-deficiency/ "DO"] synonym: "ABCA1 POLYMORPHISM" RELATED [] synonym: "ABCA1-RELATED DISORDER" BROAD [] synonym: "Familial HDL Deficiency" EXACT [] synonym: "familial HDL lipoprotein deficiency disease" EXACT [] synonym: "familial high density lipoprotein deficiency" EXACT [] synonym: "familial high density lipoprotein deficiency disease" EXACT [] synonym: "HDL deficiency, type 2" EXACT [] synonym: "low serum HDL cholesterol" EXACT [] synonym: "primary hypoalphalipoproteinemia" EXACT [] synonym: "primary hypoalphalipoproteinemias" EXACT [] xref: GARD:2872 xref: MESH:C538394 is_a: DOID:9002117 ! Hypoalphalipoproteinemias created_by: mtutaj creation_date: 2021-06-03T19:13:54Z [Term] id: DOID:0080958 name: primary hypoalphalipoproteinemia 2 alt_id: DOID:9006651 alt_id: MIM:619836 def: "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29396262/ "DO"] synonym: "absence of apolipoprotein a-1, due to deletion of apoa1/apoc3/apoa4 gene complex" NARROW [] synonym: "APOA1 Deficiency" EXACT [] synonym: "APOA1-RELATED CONDITION" EXACT [] synonym: "APOLIPOPROTEIN A-I (BALTIMORE)" RELATED [] synonym: "apolipoprotein A-I deficiency" EXACT [] synonym: "CORNEAL CLOUDING DUE TO APOLIPOPROTEIN A-I DEFICIENCY" EXACT [] synonym: "deficiency of apolipoprotein A-I" EXACT [] synonym: "primary hypoalphalipoproteinemia 2, autosomal dominant" NARROW [] synonym: "primary hypoalphalipoproteinemia 2, intermediate" NARROW [] xref: GARD:758 xref: MIM:618463 xref: ORDO:425 is_a: DOID:0111370 ! apolipoprotein C-III deficiency is_a: DOID:9002117 ! Hypoalphalipoproteinemias created_by: mtutaj creation_date: 2021-06-03T20:12:56Z [Term] id: DOID:0080959 name: arrhythmogenic right ventricular dysplasia 14 alt_id: DOID:9005146 def: "An arrhythmogenic right ventricular dysplasia that characterized by palpitations, chest pain, and presyncope and that has_material_basis_in heterozygous mutation in the CDH2 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28280076/ "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 14" EXACT [] synonym: "ARVC14" EXACT [] synonym: "ARVD14" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 14" EXACT [] xref: MIM:618920 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2020-06-24T12:17:06Z [Term] id: DOID:0080960 name: amelogenesis imperfecta type 2A6 alt_id: DOID:9006208 def: "An amelogenesis imperfecta that is characterized by enamel of normal thickness that is hypomineralized and has a mottled appearance and that has_material_basis_in homozygous mutation in the G protein-coupled receptor-68 (GPR68) on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3150442/ "DO"] synonym: "AI2A6" EXACT [] synonym: "Amelogenesis Imperfecta Hypomaturation Type, 2A6" EXACT [] synonym: "Amelogenesis Imperfecta, Hypomaturation Type, IIA6" EXACT [] xref: MIM:617217 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type created_by: mtutaj creation_date: 2021-06-03T20:25:39Z [Term] id: DOID:0080962 name: anauxetic dysplasia 2 alt_id: DOID:9005915 def: "A spondyloepimetaphyseal dysplasia that is has_material_basis_in homozygous or compound heterozygous mutation in the POP1 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28067412/ "DO"] synonym: "ANXD2" EXACT [] synonym: "POP1-RELATED CONDITION" EXACT [] xref: MIM:617396 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080942 ! anauxetic dysplasia created_by: rgd creation_date: 2017-06-09T00:00:00Z [Term] id: DOID:0080963 name: anauxetic dysplasia 3 alt_id: DOID:9000259 def: "A spondyloepimetaphyseal dysplasia that is characterized by severe short stature, brachydactyly, skin laxity, joint hypermobility, and joint dislocations and that has_material_basis_in homozygous mutation in the NEPRO gene on chromosome 3q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31250547/ "DO"] synonym: "ANXD3" EXACT [] xref: MIM:618853 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080942 ! anauxetic dysplasia created_by: mtutaj creation_date: 2020-04-24T08:34:54Z [Term] id: DOID:0080964 name: intracranial berry aneurysm 1 alt_id: DOID:9007437 alt_id: MIM:105800 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 7q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB1" EXACT [] xref: MESH:C566284 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:32:16Z [Term] id: DOID:0080965 name: intracranial berry aneurysm 2 alt_id: DOID:9003407 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14872410/ "DO"] synonym: "ANIB2" EXACT [] xref: MESH:C536360 xref: MIM:608542 xref: MONDO:0012053 is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:33:51Z [Term] id: DOID:0080966 name: intracranial berry aneurysm 3 alt_id: DOID:9008738 alt_id: MIM:609122 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB3" EXACT [] xref: MESH:C563792 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:35:37Z [Term] id: DOID:0080967 name: intracranial berry aneurysm 4 alt_id: DOID:9008074 alt_id: MIM:610213 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 5p15.2-p14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB4" EXACT [] xref: MESH:C565700 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:37:19Z [Term] id: DOID:0080968 name: intracranial berry aneurysm 5 alt_id: DOID:9002709 alt_id: MIM:300870 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome Xp22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB5" EXACT [] xref: MESH:C563670 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:39:18Z [Term] id: DOID:0080969 name: intracranial berry aneurysm 6 alt_id: DOID:9005481 alt_id: MIM:611892 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 9p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB6" EXACT [] xref: MESH:C567500 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:41:09Z [Term] id: DOID:0080970 name: intracranial berry aneurysm 7 alt_id: DOID:9007029 alt_id: MIM:612161 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 11q24-q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB7" EXACT [] xref: MESH:C567406 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:43:14Z [Term] id: DOID:0080971 name: intracranial berry aneurysm 8 alt_id: DOID:9005195 alt_id: MIM:612162 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 14q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB8" EXACT [] xref: MESH:C567405 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:45:01Z [Term] id: DOID:0080972 name: intracranial berry aneurysm 9 alt_id: DOID:9006568 alt_id: MIM:612586 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 2q33.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "Anib9" EXACT [] xref: MESH:C567238 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:9000438 ! Subarachnoid Hemorrhage created_by: mtutaj creation_date: 2021-06-03T20:47:03Z [Term] id: DOID:0080973 name: intracranial berry aneurysm 10 alt_id: DOID:9008930 alt_id: MIM:612587 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8q12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB10" EXACT [] xref: MESH:C567237 is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:48:55Z [Term] id: DOID:0080974 name: intracranial berry aneurysm 11 alt_id: DOID:9000089 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and has been mapped to chromosome 8p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB11" EXACT [] xref: MIM:614252 is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2021-06-03T20:51:40Z [Term] id: DOID:0080975 name: intracranial berry aneurysm 12 alt_id: DOID:9001608 def: "An intracranial berry aneurysm that is characterized by rupture of an intracranial aneurysm, an outpouching or sac-like widening of a cerebral artery, leads to a subarachnoid hemorrhage, a sudden-onset disease that can lead to severe disability and death and that has_material_basis_in heterozygous mutation in the THSD1 gene on chromosome 13q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16736093/ "DO"] synonym: "ANIB12" EXACT [] xref: MIM:618734 is_a: DOID:0060228 ! intracranial berry aneurysm created_by: mtutaj creation_date: 2020-01-13T11:12:27Z [Term] id: DOID:0080976 name: acute myeloid leukemia with BCR-ABL1 def: "An acute myeloid leukemia that is characterized by blasts that harbor BCR-ABL1 translocation in the absence of a history and clinical and laboratory features of chronic myelogenous leukemia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27297971/ "DO"] synonym: "Acute myeleoid leukemia with BCR-ABL1" EXACT [] xref: ICDO:9912/3 xref: NCI:C129785 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2021-06-03T20:55:21Z [Term] id: DOID:0080977 name: aortic valve disease 3 alt_id: DOID:9004010 def: "A bicuspid aortic valve disease that is characterized by aortic stenosis and/or bicuspid aortic valve, associated in some patients with aneurysm of the aortic root and/or ascending aorta and that has_material_basis_in heterozygous mutation in the ROBO4 gene on chromosome 11q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30455415/ "DO"] synonym: "AOVD3" EXACT [] synonym: "ROBO4-RELATED CONDITION" EXACT [] xref: MIM:618496 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080332 ! bicuspid aortic valve disease is_a: DOID:1682 ! congenital heart disease created_by: mtutaj creation_date: 2019-07-15T08:40:09Z [Term] id: DOID:0080978 name: arthrogryposis multiplex congenita-1 alt_id: DOID:9002454 def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the LGI4 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28318499/ "DO"] synonym: "AMC1" EXACT [] synonym: "AMCNMY" EXACT [] synonym: "LGI4-RELATED CONDITION" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita 1, with myelin defect" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita, with myelin defect" EXACT [] xref: MIM:617468 xref: MONDO:0060486 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: mtutaj creation_date: 2021-06-03T20:59:30Z [Term] id: DOID:0080979 name: arthrogryposis multiplex congenita-3 alt_id: DOID:9000909 def: "An arthrogryposis multiplex congenita that is characterized by decreased fetal movements, hypotonia, variable skeletal defects, including clubfoot and scoliosis, and delayed motor milestones with difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SYNE1 gene on chromosome 6q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27782104/ "DO"] synonym: "AMC3" EXACT [] synonym: "AMCM" EXACT [] synonym: "Arthrogryposis Multiplex Congenita 3, Myogenic Type" EXACT [] synonym: "arthrogryposis multiplex congenita, myogenic type" EXACT [] xref: MIM:618484 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: slaulede creation_date: 2019-08-13T13:50:03Z [Term] id: DOID:0080980 name: arthrogryposis multiplex congenita-4 alt_id: DOID:9008459 def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous mutation in the SCYL2 gene on chromosome 12q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31960134/ "DO"] synonym: "AMC4" EXACT [] synonym: "AMCNACC" EXACT [] synonym: "Neurogenic Arthrogryposis Multiplex Congenita 4 with Agenesis of the Corpus Callosum" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita with agenesis of the corpus callosum" EXACT [] synonym: "Zain syndrome" EXACT [] xref: MIM:618766 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: slaulede creation_date: 2020-03-12T16:39:23Z [Term] id: DOID:0080981 name: arthrogryposis multiplex congenita-5 alt_id: DOID:9008886 def: "An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29053766/ "DO"] synonym: "AMC5" EXACT [] xref: MIM:618947 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: mtutaj creation_date: 2020-08-03T12:45:12Z [Term] id: DOID:0080982 name: X-linked mental retardation-hypotonic facies syndrome-1 alt_id: DOID:9005524 alt_id: MIM:309580 def: "A syndromic X-linked intellectual disability that is characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women and that has_material_basis_in mutation in the ATRX gene. X-linked mental retardation-hypotonic facies syndrome comprises several syndromes previously reported separately. These include Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes. X-linked alpha-thalassemia/mental retardation syndrome is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15508018/ "DO"] synonym: "ATRX-RELATED DISORDER" BROAD [] synonym: "Carpenter-Waziri syndrome" EXACT [] synonym: "Chudley-Lowry-Hoar syndrome" EXACT [] synonym: "Chudley-Lowry syndrome" EXACT [] synonym: "Chudley mental retardation syndrome" EXACT [] synonym: "Chudley syndrome 1" EXACT [] synonym: "Holmes-Gang syndrome" EXACT [] synonym: "MRXHF1" EXACT [] synonym: "SFM1" EXACT [] synonym: "SFMS" EXACT [] synonym: "Smith-Fineman-Myers syndrome 1" EXACT [] synonym: "X-linked hypogonadism gynecomastia mental retardation" EXACT [] synonym: "X-linked intellectual disability-hypotonic facies syndrome" EXACT [] synonym: "X-Linked Mental Retardation-Hypotonic Facies Syndrome" EXACT [] synonym: "XLMR-hypotonic facies syndrome" EXACT [] xref: MESH:C537457 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2021-06-03T21:19:04Z [Term] id: DOID:0080984 name: X-linked intellectual developmental disorder 109 alt_id: DOID:9002187 def: "A syndromic X-linked intellectual disability characterized by mildly to moderately impaired intellectual development associated with learning difficulties, communication deficits, attention problems, hyperactivity, and autistic behavior and that has_material_basis_in disruption of the FMR2 gene (AFF2), either by expansion of a CCG repeat in the 5-prime untranslated region or by deletion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21739600/ "DO"] synonym: "fragile site on chromosome Xq28" EXACT [] synonym: "Fragile XE syndrome" EXACT [] synonym: "FRAXE mental retardation syndrome" EXACT [] synonym: "FRAXE syndrome" EXACT [] synonym: "FRAXE syndromes" EXACT [] synonym: "MRX109" EXACT [] synonym: "XLID109" EXACT [] synonym: "X-linked mental retardation 109" EXACT [] synonym: "X-linked mental retardation associated with fragile site FRAXE" EXACT [] xref: GARD:2378 xref: MIM:309548 xref: ORDO:100973 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14261 ! fragile X syndrome created_by: mtutaj creation_date: 2021-04-15T10:43:24Z [Term] id: DOID:0080985 name: syndromic X-linked intellectual disorder Lujan-Fryns-type alt_id: DOID:9001908 def: "A syndromic X-linked intellectual disability that is characterized by a tall, marfanoid stature, distinct facial dysmorphism and behavioral problems and that has_material_basis_in hemizygous mutation in the MED12 gene on chromosome Xq13. Opitz-Kaveggia syndrome is an allelic disorder with an overlapping phenotype. (DO)" [https://medlineplus.gov/genetics/condition/lujan-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1676/ "DO"] synonym: "Lujan-Fryns syndrome" EXACT [] synonym: "Lujan syndrome" EXACT [] synonym: "Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies" EXACT [] synonym: "MED12-RELATED INTELLECTUAL DISABILITY SYNDROME" BROAD [] synonym: "MRXSLF" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Lujan-Fryns type" EXACT [] synonym: "X-Linked Intellectual Deficit with Marfanoid Habitus" EXACT [] synonym: "X-linked mental retardation with marfanoid habitus" EXACT [] synonym: "X-linked mental retardation with marfanoid habitus 1" EXACT [] synonym: "X-linked mental retardation with marfanoid habitus syndrome" EXACT [] synonym: "XLMR with Marfanoid Features" EXACT [] xref: GARD:3307 xref: MESH:C537724 xref: MIM:309520 xref: MONDO:0010655 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14323 ! Marfan syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-06-03T21:27:14Z [Term] id: DOID:0080986 name: Ehlers-Danlos syndrome periodontal type 1 alt_id: DOID:9004784 alt_id: MIM:130080 def: "An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27745832/ "DO"] synonym: "EDS8" EXACT [] synonym: "EDSPD1" EXACT [] synonym: "EDS VIII" EXACT [] synonym: "Ehlers-Danlos Syndrome, Periodontitis Type" EXACT [] synonym: "Ehlers-Danlos Syndrome, Periodontosis Type" EXACT [] synonym: "Ehlers-Danlos Syndrome Type 8" EXACT [] synonym: "Ehlers-Danlos Syndrome, Type VIII" EXACT [] xref: MESH:C562626 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:824 ! periodontitis created_by: mtutaj creation_date: 2021-06-03T21:30:50Z [Term] id: DOID:0080987 name: Ehlers-Danlos syndrome periodontal type 2 alt_id: DOID:9002437 def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27745832/ "DO"] synonym: "EDSPD2" EXACT [] xref: GARD:12474 xref: MIM:617174 xref: ORDO:75392 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:824 ! periodontitis created_by: mtutaj creation_date: 2021-06-03T21:33:13Z [Term] id: DOID:0080988 name: pretibial dystrophic epidermolysis bullosa alt_id: DOID:9001453 alt_id: MIM:131850 def: "An epidermolysis bullosa dystrophica that is characterized by recurrent blistering and scarring, mainly in the pretibial area and that has_material_basis_in heterozygous or compound heterozygous mutation in the type VII collagen gene (COL7A1) on chromosome 3p21. The lesions often show lichenoid features. Pretibial epidermolysis bullosa is allelic to autosomal dominant and recessive dystrophic epidermolysis bullosa. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7738360/ "DO"] synonym: "Epidermolysis Bullosa Dystrophica, Pretibial" EXACT [] synonym: "pretibial DEB" EXACT [] synonym: "Pretibial Epidermolysis Bullosa" EXACT [] synonym: "pretibial epidermolysis bullosa, autosomal recessive" NARROW [] xref: GARD:2155 xref: MESH:C535494 xref: ORDO:79410 is_a: DOID:4959 ! epidermolysis bullosa dystrophica created_by: mtutaj creation_date: 2021-06-03T21:35:49Z [Term] id: DOID:0080990 name: King Denborough syndrome alt_id: DOID:9003967 alt_id: MIM:619542 def: "A myopathy that is characterized by distinctive facies, ptosis, downslanted palpebral fissures, widely spaced eyes, epicanthal folds, low-set ears, malar hypoplasia, micrognathia, high-arched palate, clinodactyly, single palmar crease, pectus excavatum, winging of the scapulae, lumbar lordosis, and mild thoracic scoliosis. Pathogenic variants in RYR1 have been found in some individuals with King-Denborough syndrome. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1146/ "DO"] synonym: "Anesthetic-induced malignant hyperpyrexia in children" EXACT [] synonym: "King syndrome" EXACT [] xref: EFO:0009071 xref: GARD:8433 xref: MESH:C536883 xref: ORDO:99741 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:423 ! myopathy is_a: DOID:8545 ! malignant hyperthermia created_by: mtutaj creation_date: 2021-06-08T15:36:30Z [Term] id: DOID:0080991 name: congenital myopathy 1B alt_id: DOID:9004586 def: "A congenital myopathy that is characterized by multiple areas of reduced mitochondrial oxidative activity running along a limited extent of the longitudinal axis of the muscle fiber, so-called 'minicores' and that has_material_basis_in homozygous or compound heterozygous mutation in the RYR1 gene on chromosome 19q13. Multiminocore disease is broadly classified into four groups: classic form, moderate form with hand involvement, antenatal form with arthrogryposis multiplex congenita, and ophthalmoplegic form. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11731287/ "DO"] synonym: "CMYO1B" EXACT [] synonym: "CMYP1B" EXACT [] synonym: "congenital myopathy 1B, autosomal recessive" EXACT [] synonym: "minicore disease" EXACT [] synonym: "minicore myopathy" EXACT [] synonym: "minicore myopathy with external ophthalmoplegia" EXACT [] synonym: "Multicore Disease" EXACT [] synonym: "Multicore Myopathy" EXACT [] synonym: "Multicore Myopathy With External Ophthalmoplegia" EXACT [] synonym: "multi-minicore disease" EXACT [] synonym: "multiminicore disease" EXACT [] synonym: "multiminicore disease with external ophthalmoplegia" EXACT [] synonym: "multiminicore myopathy" EXACT [] xref: GARD:10316 xref: MESH:C564969 xref: MIM:255320 xref: MONDO:0009712 xref: NCI:C150608 xref: ORDO:598 is_a: DOID:0081337 ! congenital myopathy is_a: DOID:422 ! congenital structural myopathy is_a: DOID:539 ! ophthalmoplegia created_by: mtutaj creation_date: 2021-06-08T15:40:18Z [Term] id: DOID:0080992 name: rhabdomyolysis-myalgia syndrome def: "A myopathy that is characterized by muscle breakdown (rhabdomyolysis), heat and exertion-related muscle pain (myalgia) and cramping symptoms, severe muscle pain, sudden elevation and subsequent fall of serum creatine phosphokinase levels and products of muscle breakdown in the urine (myoglobinuria). Associated with RYR1 variations. Rhabdomyolysis is associated with a range of external triggers, including strenuous exercise beyond the limit of fatigue, heat stress, illicit drug or alcohol abuse, use of supplements or certain medications, recent viral illness or muscle trauma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5791790/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667763/ "DO"] is_a: DOID:423 ! myopathy created_by: mtutaj creation_date: 2021-06-08T15:44:31Z [Term] id: DOID:0080994 name: autoimmune epilepsy def: "An epilepsy that is characterized by new-onset refractory seizures along with subacute progressive cognitive decline and behavioral or psychiatric dysfunction. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27112680/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6694338/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7541993/ "DO"] is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:1826 ! epilepsy created_by: mtutaj creation_date: 2021-07-29T12:41:46Z [Term] id: DOID:0080995 name: tuberculous encephalopathy def: "A tuberculosis that is characterized by cerebral edema sometimes with features similar to acute disseminated encephalomyelitis (ADEM) and may manifest with a variety of symptoms ranging from focal neurological deficits to convulsions and decreased conscious state. (DO)" [https://radiopaedia.org/articles/tuberculous-encephalopathy?lang=us "DO"] is_a: DOID:399 ! tuberculosis created_by: mtutaj creation_date: 2021-07-29T12:43:51Z [Term] id: DOID:0080996 name: diffuse large B-cell lymphoma activated B-cell type def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD44, PKCbeta1, Cyclin D2, BCL-2, and IRF4/MUM1 genes. (DO)" [https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36081 "DO"] synonym: "DLBCL ABC type" EXACT [] xref: NCI:C36081 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2021-07-29T12:46:08Z [Term] id: DOID:0080997 name: diffuse large B-cell lymphoma germinal center B-cell type def: "A diffuse large B-cell lymphoma that is characterized by the expression of CD10, BCL-6, A-myb, and LMO2 genes, BCL-2 translocation, and c-REL amplification. (DO)" [https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C36080 "DO"] xref: NCI:C36080 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2021-07-29T12:47:22Z [Term] id: DOID:0080998 name: acute necrotizing pancreatitis alt_id: DOID:9006745 def: "An acute pancreatitis that is characterized by one or more areas of necrosis in the pancreas with varying degree of involvement of the surrounding tissues or organ systems. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28381378/ "DO"] synonym: "necrotizing pancreatitis" EXACT [] xref: MESH:D019283 is_a: DOID:2913 ! acute pancreatitis created_by: mtutaj creation_date: 2021-07-29T12:48:29Z [Term] id: DOID:0080999 name: acute hemorrhagic pancreatitis alt_id: DOID:9000500 def: "An acute pancreatits that is characterized by acute inflammation of the pancreas in which the initial edematous pancreatitis evolved into necrosis accompanied by hemorrhage. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5400340/ "DO"] synonym: "Acute Haemorrhagic Pancreatitis" EXACT [] synonym: "Hemorrhagic Pancreatitis" EXACT [] xref: MESH:D000081032 is_a: DOID:2913 ! acute pancreatitis created_by: mtutaj creation_date: 2021-07-29T12:53:52Z [Term] id: DOID:0081000 name: Cowden syndrome 4 alt_id: DOID:9000532 def: "A Cowden syndrome that has_material_basis_in heterozygous germline hypermethylation of the KLLN gene on chromosome 10q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21177507/ "DO"] synonym: "CWS4" EXACT [] xref: MIM:615107 is_a: DOID:6457 ! Cowden syndrome created_by: mtutaj creation_date: 2021-07-29T12:56:24Z [Term] id: DOID:0081001 name: Cowden syndrome 5 alt_id: DOID:9002318 def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the PIK3CA gene on chromosome 3q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23246288/ "DO"] synonym: "Cowden disease 5" EXACT [] synonym: "CWS5" EXACT [] xref: MIM:615108 is_a: DOID:6457 ! Cowden syndrome created_by: mtutaj creation_date: 2021-07-29T12:59:14Z [Term] id: DOID:0081002 name: Cowden syndrome 6 alt_id: DOID:9002136 def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the AKT1 gene on chromosome 14q32.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23246288/ "DO"] synonym: "Cowden disease 6" EXACT [] synonym: "CWS6" EXACT [] xref: MIM:615109 is_a: DOID:6457 ! Cowden syndrome created_by: mtutaj creation_date: 2021-07-29T13:01:05Z [Term] id: DOID:0081003 name: Cowden syndrome 7 alt_id: DOID:9001093 def: "A Cowden syndrome that has_material_basis_in heterozygous mutation in the SEC23B gene on chromosome 20p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26522472/ "DO"] synonym: "CWS7" EXACT [] xref: MIM:616858 is_a: DOID:6457 ! Cowden syndrome created_by: mtutaj creation_date: 2021-07-29T13:02:50Z [Term] id: DOID:0081004 name: high-grade B-cell lymphoma double-hit/triple-hit def: "A large B-cell lymphoma that is characterized by the abnormal rearrangement of two genes, MYC gene and either BCL2 or BCL6 genes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29475959/ "DO"] synonym: "HGBL-DH/TH" EXACT [] synonym: "High Grade B-Cell Lymphoma with MYC and BCL2 or BCL6 Rearrangements" EXACT [] xref: MONDO:0850426 xref: NCI:C125904 is_a: DOID:0081452 ! large B-cell lymphoma created_by: mtutaj creation_date: 2021-07-29T13:05:05Z [Term] id: DOID:0081005 name: parsley allergy def: "A vegetable allergy triggered by parsley (Petroselinum). (DO)" [https://pubmed.ncbi.nlm.nih.gov/25648063/ "DO"] is_a: DOID:0070334 ! vegetable allergy created_by: mtutaj creation_date: 2021-08-21T18:39:24Z [Term] id: DOID:0081006 name: dill allergy def: "A food allergy triggered by dill (Anethum graveolens). (DO)" [https://pubmed.ncbi.nlm.nih.gov/10831013/ "DO"] is_a: DOID:0070334 ! vegetable allergy created_by: mtutaj creation_date: 2021-08-21T18:40:51Z [Term] id: DOID:0081007 name: RNASET2-deficient cystic leukoencephalopathy alt_id: DOID:9000690 alt_id: MIM:612951 def: "A leukodystrophy that is characterized by non-progressive leukoencephalopathy, bilateral cysts in the anterior part of the temporal lobe, cerebral white matter anomalies and severe psychomotor impairment. (DO)" [https://medlineplus.gov/genetics/condition/rnase-t2-deficient-leukoencephalopathy/#synonyms "DO"] synonym: "Cystic Leukoencephalopathy" EXACT [] synonym: "Cystic Leukoencephalopathy without Megalencephaly" EXACT [] synonym: "infantile-onset RNASET2 deficient cystic leukoencephalopathy" EXACT [] xref: GARD:13199 xref: MESH:C567845 xref: ORDO:85136 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9007583 ! Cysts created_by: mtutaj creation_date: 2021-08-21T18:45:48Z [Term] id: DOID:0081008 name: intellectual developmental disorder with cardiac arrhythmia alt_id: DOID:9007723 def: "A syndrome that is characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias and that has_material_basis_in homozygous or compound heterozygous mutation in the GNB5 gene on chromosome 15q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27523599/ "DO"] synonym: "GNB5-related intellectual disability-cardiac arrhythmia syndrome" EXACT [] synonym: "IDDCA" EXACT [] xref: MIM:617173 xref: NCI:C164154 xref: ORDO:542306 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9008514 ! Psychomotor Disorders created_by: mtutaj creation_date: 2021-08-21T18:51:05Z [Term] id: DOID:0081009 name: Bardet-Biedl syndrome 20 alt_id: DOID:9002181 def: "A Bardet-Biedl syndrome that is characterized by rod-cone dystrophy, postaxial polydactyly, truncal obesity, renal anomalies, and learning disability, as well as hypogonadism in males and genital abnormalities in females and that has_material_basis_in homozygous mutation in the IFT172 gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24290075/ "DO"] synonym: "BBS20" EXACT [] xref: MIM:619471 is_a: DOID:1935 ! Bardet-Biedl syndrome created_by: mtutaj creation_date: 2021-08-21T19:46:08Z [Term] id: DOID:0081010 name: Bardet-Biedl syndrome 21 alt_id: DOID:9004815 def: "A Bardet-Biedl syndrome that is characterized by obesity, postaxial polydactyly, retinal degeneration, and mild cognitive impairment and that has_material_basis_in homozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27008867/ "DO"] synonym: "BBS21" EXACT [] synonym: "C8ORF37-RELATED DISORDER" BROAD [] synonym: "CFAP418-RELATED CONDITION" BROAD [] xref: MIM:617406 is_a: DOID:1935 ! Bardet-Biedl syndrome created_by: mtutaj creation_date: 2021-08-21T19:48:05Z [Term] id: DOID:0081011 name: Bardet-Biedl syndrome 22 alt_id: DOID:9004483 def: "A Bardet-Biedl syndrome that is retinitis pigmentosa, obesity, polydactyly, hypogonadism, and intellectual disability has_material_basis_in compound heterozygous or homozygous mutation in the IFT74 gene on chromosome 9p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27486776/ "DO"] synonym: "Bardet-Biedl syndrome 20 (formerly)" RELATED [] synonym: "BBS20 (formerly)" RELATED [] synonym: "BBS22" EXACT [] xref: MIM:617119 is_a: DOID:1935 ! Bardet-Biedl syndrome created_by: mtutaj creation_date: 2021-08-21T19:49:26Z [Term] id: DOID:0081012 name: critical COVID-19 def: "A COVID-19 that is characterized by the criteria for acute respiratory distress syndrome (ARDS), sepsis, septic shock, or other conditions that would normally require the provision of life sustaining therapies such as mechanical ventilation (invasive or non-invasive) or vasopressor therapy. (DO)" [https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 "DO"] is_a: DOID:0080600 ! COVID-19 created_by: mtutaj creation_date: 2021-10-01T10:07:33Z [Term] id: DOID:0081013 name: severe COVID-19 def: "A COVID-19 that is characterized by any of (1) Oxygen saturation < 90% on room air, (2) Respiratory rate > 30 breaths/min in adults and children > 5 years old, ≥ 60 breaths/min in children < 2 months old, ≥ 50 in children 2–11 months old, and ≥ 40 in children 1–5 years old, or (3) signs of severe respiratory distress (accessory muscle use, inability to complete full sentences, and, in children, very severe chest wall indrawing, grunting, central cyanosis, or presence of any other general danger signs. (DO)" [https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 "DO"] synonym: "SUSCEPTIBILITY TO SEVERE CORONAVIRUS DISEASE (COVID-19) DUE TO HIGH LEVELS OF FIBRINOGEN AND C-REACTIVE PROTEIN" RELATED [] synonym: "SUSCEPTIBILITY TO SEVERE COVID-19" RELATED [] is_a: DOID:0080600 ! COVID-19 created_by: mtutaj creation_date: 2021-10-01T10:08:50Z [Term] id: DOID:0081014 name: non-severe COVID-19 def: "A COVID-19 that is characterized by the absence of any criteria for severe or critical COVID-19. (DO)" [https://www.who.int/publications/i/item/WHO-2019-nCoV-clinical-2021-1 "DO"] is_a: DOID:0080600 ! COVID-19 created_by: mtutaj creation_date: 2021-10-01T10:09:45Z [Term] id: DOID:0081015 name: congenital fibrosis of the extraocular muscles 1 alt_id: DOID:9007664 alt_id: DOID:9008536 alt_id: MESH:C567739 def: "A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18214786/ "DO"] synonym: "blepharoptosis with absent eye movements" BROAD [] synonym: "CFEOM1" EXACT [] synonym: "CFEOM3B" RELATED [] synonym: "congenital fibrosis of extraocular muscles 1" EXACT [] synonym: "congenital fibrosis of extraocular muscles 3B" RELATED [] synonym: "FEOM1" EXACT [] synonym: "KIF21A-RELATED CONDITION" EXACT [] xref: MIM:135700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:11:03Z [Term] id: DOID:0081016 name: congenital fibrosis of the extraocular muscles 2 alt_id: DOID:9005788 alt_id: MIM:602078 def: "A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11600883/ "DO"] synonym: "CFEOM2" EXACT [] synonym: "congenital fibrosis of extraocular muscles 2" EXACT [] synonym: "congenital fibrosis of extraocular muscles, autosomal recessive" BROAD [] synonym: "FEOM2 LOCUS" EXACT [] xref: MESH:C566587 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060260 ! ptosis is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:14:17Z [Term] id: DOID:0081017 name: congenital fibrosis of the extraocular muscles 3A alt_id: DOID:9005277 alt_id: MIM:600638 def: "A congenital fibrosis of the extraocular muscles that is characterized by a variable phenotype where individuals may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis and that has_material_basis_in heterozygous mutation in the TUBB3 gene on chromosome 16q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18214786/ "DO"] synonym: "CFEOM3A" EXACT [] synonym: "congenital fibrosis of extraocular muscles 3A, with or without extraocular involvement" EXACT [] synonym: "FEOM3 LOCUS" EXACT [] synonym: "TUBB3-RELATED CONDITION" BROAD [] synonym: "TUBB3-RELATED DISORDER" BROAD [] synonym: "TUBB3-RELATED TUBULINOPATHY" BROAD [] xref: MESH:C567572 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:16:57Z [Term] id: DOID:0081019 name: congenital fibrosis of the extraocular muscles 3C alt_id: DOID:9000360 alt_id: MIM:609384 def: "A congenital fibrosis of the extraocular muscles that is characterized by congenital bilateral ptosis and limitation of the superior rectus and that has_material_basis_in a reciprocal translocation t(2;13)(q37.3;q12.11). (DO)" [https://pubmed.ncbi.nlm.nih.gov/15744040/ "DO"] synonym: "CFEOM3C" EXACT [] synonym: "congenital fibrosis of extraocular muscles 3C" EXACT [] xref: MESH:C567666 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:19:48Z [Term] id: DOID:0081020 name: congenital fibrosis of the extraocular muscles 5 alt_id: DOID:9008337 def: "A congenital fibrosis of the extraocular muscles that has_material_basis_in homozygous or compound heterozygous mutation in the COL25A1 gene on chromosome 4q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25500261/ "DO"] synonym: "CFEOM5" EXACT [] synonym: "congenital fibrosis of extraocular muscles 5" EXACT [] xref: MIM:616219 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2021-10-01T10:23:35Z [Term] id: DOID:0081021 name: Tukel syndrome alt_id: DOID:9003903 alt_id: MIM:609428 def: "A congenital fibrosis of the extraocular muscles that is characterized by nonprogressive restrictive ophthalmoplegia with blepharoptosis of the right eye and postaxial oligodactyly/oligosyndactyly of the hands, with the right more severely affected than the left. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15863670/ "DO"] synonym: "CFEOM4" EXACT [] synonym: "CFEOM-U" EXACT [] synonym: "congenital extraocular muscle fibrosis with ulnar hand anomalies" EXACT [] synonym: "congenital fibrosis of extraocular muscles 4" EXACT [] synonym: "congenital fibrosis of extraocular muscles with ulnar hand anomalies" EXACT [] synonym: "congenital fibrosis of the extraocular muscles 4" EXACT [] xref: GARD:9814 xref: MESH:C536925 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities created_by: mtutaj creation_date: 2021-10-01T10:26:36Z [Term] id: DOID:0081022 name: retinal cone dystrophy 3B alt_id: DOID:9007644 alt_id: MIM:610356 def: "A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15722315/ "DO"] synonym: "CDSRR" EXACT [] synonym: "Cone Dystrophy with Night Blindness and Supernormal Rod Responses, KCNV2-Related" EXACT [] synonym: "CONE DYSTROPHY WITH SUPERNORMAL ROD ELECTRORETINOGRAM" EXACT [] synonym: "CONE DYSTROPHY WITH SUPERNORMAL ROD RESPONSES" EXACT [] synonym: "KCNV2-RELATED CONDITION" EXACT [] synonym: "RCD3B" EXACT [] xref: GARD:10649 xref: MESH:C563678 xref: NCI:C192089 xref: ORDO:209932 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050795 ! cone dystrophy is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2021-11-16T14:46:03Z [Term] id: DOID:0081023 name: retinal cone dystrophy 4 alt_id: DOID:9003327 alt_id: MIM:610478 def: "A cone dystrophy that has_material_basis_in homozygous mutation in the CACNA2D4 gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26560832/ "DO"] synonym: "CACNA2D4-RELATED CONDITION" EXACT [] synonym: "RCD4" EXACT [] xref: GARD:10650 xref: MESH:C566470 is_a: DOID:0050795 ! cone dystrophy is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2021-11-16T14:49:13Z [Term] id: DOID:0081024 name: retinal cone dystrophy 1 alt_id: DOID:9001071 alt_id: MIM:180020 def: "A cone dystrophy that is characterized as autosomal dominant form of diffuse cone degeneration. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15051206/ "DO", https://pubmed.ncbi.nlm.nih.gov/4573331/ "DO"] synonym: "Cone Dystrophy, Autosomal Dominant" EXACT [] synonym: "RCD1" EXACT [] synonym: "Retinal Cone Degeneration" EXACT [] xref: GARD:3196 xref: MESH:C566719 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050795 ! cone dystrophy is_a: DOID:8466 ! retinal degeneration created_by: mtutaj creation_date: 2021-11-16T14:50:46Z [Term] id: DOID:0081025 name: retinal cone dystrophy 3A alt_id: DOID:9004469 alt_id: MIM:610024 def: "A cone dystrophy that is characterized by reduced visual acuity, photoaversion, night blindness, and abnormal color vision and that has_material_basis_in mutation in the gene encoding the gamma subunit of cone cGMP-phosphodiesterase (PDE6H0) on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22901948/ "DO"] synonym: "ACHM6" RELATED [] synonym: "achromatopsia 6" RELATED [] synonym: "Cone Dystrophy with Night Blindness and Supernormal Rod Responses, PDE6H-Related" EXACT [] synonym: "RCD3A" EXACT [] xref: GARD:10648 xref: MESH:C566483 is_a: DOID:0050795 ! cone dystrophy is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2021-11-16T14:52:18Z [Term] id: DOID:0081026 name: benign peritoneal solitary fibrous tumor def: "A peritoneal benign neoplasm that is characterized by the presence of prominent hemangiopericytoma-like vessels. (DO)" [https://medscimonit.com/abstract/index/idArt/459077/act/3 "DO"] xref: NCI:C126357 is_a: DOID:0060117 ! peritoneal benign neoplasm created_by: mtutaj creation_date: 2021-11-16T14:54:01Z [Term] id: DOID:0081028 name: glycogen-rich carcinoma def: "A breast adenocarcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5350496/ "DO"] xref: ICDO:8315/3 xref: NCI:C4153 is_a: DOID:3458 ! breast adenocarcinoma created_by: mtutaj creation_date: 2021-12-15T22:59:11Z [Term] id: DOID:0081030 name: central conducting lymphatic anomaly alt_id: DOID:9006808 def: "A lymphatic system disease that is characterized by dysfunction of the thoracic duct or cisterna chyli, leading to a retrograde flux of lymphatic fluid or abnormal drainage of lymphatic fluid and that has_material_basis_in heterozygous mutation in the EPHB4 gene on chromosome 7q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31263281/ "DO"] synonym: "central conduction lymphatic anomaly" EXACT [] synonym: "EPHB4-ASSOCIATED VASCULAR MALFORMATION SPECTRUM" BROAD [] synonym: "EPHB4-RELATED CONDITION" BROAD [] synonym: "EPHB4-RELATED DISORDERS" BROAD [] synonym: "HFASD" EXACT [] synonym: "LMPHM7" EXACT [] synonym: "lymphatic malformation 7" EXACT [] synonym: "nonimmune hydrops fetalis and/or atrial septal defect" EXACT [] synonym: "susceptibility to nonimmune hydrops fetalis and/or atrial septal defect" RELATED [] xref: MIM:617300 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:9008386 ! Hydrops Fetalis created_by: mtutaj creation_date: 2022-02-01T09:17:57Z [Term] id: DOID:0081031 name: generalized lymphatic anomaly def: "A lymphatic system disease that is characterized by abnormal overgrowth of lymphatic vessels with multiple areas in the lungs, pleura, bones and soft tissues leading to lymphatic malformations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31263281/ "DO"] is_a: DOID:75 ! lymphatic system disease created_by: mtutaj creation_date: 2022-02-01T09:22:28Z [Term] id: DOID:0081034 name: glutatione synthetase deficiency with 5-oxoprolinuria def: "A glutathione synthetase deficiency that is characterized by massive urinary excretion of 5-oxoproline, metabolic acidosis, hemolytic anemia, and central nervous system damage and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding glutathione synthetase (GSS) on chromosome 20q11. The metabolic defect results in decreased levels of cellular glutathione, which overstimulates the synthesis of gamma-glutamylcysteine and its subsequent conversion to 5-oxoproline. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15990954/ "DO"] synonym: "5-oxoprolinuria due to glutathione synthetase deficiency" EXACT [] synonym: "GSSD" EXACT [] synonym: "pyroglutamic aciduria" EXACT [] xref: MIM:266130 xref: MONDO:0009947 xref: ORDO:32 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080699 ! glutathione synthetase deficiency created_by: mtutaj creation_date: 2022-02-21T22:25:26Z [Term] id: DOID:0081036 name: mixed phenotype acute leukemia with BCR-ABL1 def: "An acute biphenotypic leukemia that is characterized by blasts that also carry the translocation t(9;22)(q34.1;q11.2) by karyotypic analysis or the BCR-ABL1 translocation by FISH or PCR. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6369089/ "DO"] synonym: "Mixed Phenotype Acute Leukemia with t(9;22)(q34.1;q11.2); BCR-ABL1" EXACT [] xref: ICDO:9806/3 xref: NCI:C82192 is_a: DOID:9953 ! acute biphenotypic leukemia created_by: mtutaj creation_date: 2022-02-21T22:30:10Z [Term] id: DOID:0081037 name: mixed phenotype acute leukemia with MLL rearranged def: "An acute biphenotypic leukemia that is characterized by blasts which carry a translocation between the MLL (KMT2A) gene at 11q23.3 and another gene partner. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32350732/ "DO"] synonym: "Mixed Phenotype Acute Leukemia with t(v;11q23.3); MLL Rearranged" EXACT [] xref: ICDO:9807/3 xref: NCI:C82203 is_a: DOID:9953 ! acute biphenotypic leukemia created_by: mtutaj creation_date: 2022-02-21T22:31:35Z [Term] id: DOID:0081038 name: mixed phenotype acute leukemia, B/myeloid def: "An acute biphenotypic leukemia that is characterized by blasts which express B-lymphoid and myeloid lineage markers but are negative for MLL translocation and t(9;22)(q34;q11.2) translocation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29686566/ "DO"] xref: ICDO:9808/3 xref: NCI:C82212 is_a: DOID:9953 ! acute biphenotypic leukemia created_by: mtutaj creation_date: 2022-02-21T22:32:38Z [Term] id: DOID:0081039 name: mixed phenotype acute leukemia, T/myeloid def: "An acute biphenotypic leukemia that is characterized by blasts that express antigens of both T and myeloid antigens. (DO)" [https://link.springer.com/article/10.1186/1471-2407-14-963 "DO"] xref: ICDO:9809/3 is_a: DOID:9953 ! acute biphenotypic leukemia created_by: mtutaj creation_date: 2022-02-21T22:33:57Z [Term] id: DOID:0081041 name: B-cell prolymphocytic leukemia alt_id: DOID:9007112 def: "A prolymphocytic leukemia that is characterized by medium-sized, round lymphoid cells with prominent nucleoli exceeding 55% of lymphoid cells in the blood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34293709/ "DO"] synonym: "B-Cell Prolymphocytic Leukemias" EXACT [] synonym: "Prolymphocytic leukemia, B-cell type" EXACT [] xref: EFO:1000102 xref: GARD:8223 xref: ICDO:9833/3 xref: MESH:D054403 xref: NCI:C4753 xref: ORDO:86852 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma is_a: DOID:1039 ! prolymphocytic leukemia created_by: mtutaj creation_date: 2022-02-21T22:35:46Z [Term] id: DOID:0081042 name: T-cell prolymphocytic leukemia alt_id: DOID:9007193 def: "A prolymphocytic leukemia that is characterized by the proliferation of small to medium sized prolymphocytes with a mature T-cell phenotype, involving the blood, bone marrow, lymph nodes, liver, spleen, and skin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31082044/ "DO"] synonym: "chronic T-lymphocytic leukemia" EXACT [] synonym: "Prolymphocytic leukemia, T-cell type" EXACT [] synonym: "T-cell chronic leukemia" EXACT [] synonym: "T-cell chronic lymphocytic leukemia" EXACT [] synonym: "T-Cell Prolymphocytic Leukemias" EXACT [] synonym: "T-Cell Prolymphocytic Leukemia, Somatic" EXACT [] synonym: "TCLL" EXACT [] xref: EFO:1000560 xref: ICDO:9834/3 xref: MESH:D015461 xref: NCI:C4752 xref: NCI:C70649 xref: ORDO:86871 is_a: DOID:1039 ! prolymphocytic leukemia is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia created_by: mtutaj creation_date: 2022-02-21T22:39:22Z [Term] id: DOID:0081043 name: fetal akinesia deformation sequence syndrome X-linked alt_id: DOID:9001100 alt_id: MIM:300073 def: "A fetal akinesia deformation sequence syndrom that is an X-linked form that is characterized by brain malformations, telecanthus, and narrow palpebral fissures. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9018412/ "DO"] synonym: "Brain malformation, growth retardation, hypokinesia and polyhydramnios" EXACT [] synonym: "Fetal Akinesia Syndrome, X-Linked" EXACT [] synonym: "Holmes Benacerraf syndrome" EXACT [] synonym: "X-linked form of fetal akinesia syndrome" EXACT [] xref: GARD:2293 xref: MESH:C537921 is_a: DOID:0002116 ! pterygium is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome is_a: DOID:9006294 ! Congenital Limb Deformities created_by: mtutaj creation_date: 2022-02-21T22:42:39Z [Term] id: DOID:0081044 name: frontonasal dysplasia alt_id: DOID:9002345 def: "A syndrome that is a cleft in thes nose, a broad nose, wide spaced eyes and a widow's peak. (DO)" [https://medlineplus.gov/genetics/condition/frontonasal-dysplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/27920634/ "DO"] synonym: "FND" EXACT [] synonym: "FNM" EXACT [] synonym: "frontonasal dysplasias" EXACT [] synonym: "frontonasal malformation" EXACT [] synonym: "frontorhiny" EXACT [] synonym: "median facial cleft syndrome" EXACT [] xref: GARD:2392 xref: MESH:C538065 xref: MIM:PS136760 xref: NCI:C129028 xref: ORDO:391474 is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-02-21T22:49:53Z [Term] id: DOID:0081045 name: frontonasal dysplasia 1 alt_id: DOID:9003445 def: "A frontonasal dysplasia that is characterized by hypertelorism, wide nasal bridge, broad columella, widened philtrum, widely separated narrow nares, poor development of nasal tip, midline notch of the upper alveolus, columella base swellings and a low hairline, and has_material_basis_in homozygous mutation in the aristaless-like homeobox-3 gene (ALX3) on chromosome 1p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19409524/ "DO"] synonym: "FND1" EXACT [] xref: MIM:136760 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081044 ! frontonasal dysplasia is_a: DOID:1934 ! dysostosis is_a: DOID:9003133 ! Hypertelorism created_by: mtutaj creation_date: 2022-02-21T22:53:01Z [Term] id: DOID:0081046 name: frontonasal dysplasia 2 alt_id: DOID:9007891 def: "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX4 gene on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22140057/ "DO"] synonym: "FND2" EXACT [] xref: MIM:613451 xref: MONDO:0013268 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081044 ! frontonasal dysplasia is_a: DOID:11383 ! cryptorchidism is_a: DOID:2340 ! craniosynostosis is_a: DOID:9003133 ! Hypertelorism is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2022-02-21T22:55:00Z [Term] id: DOID:0081047 name: frontonasal dysplasia 3 alt_id: DOID:9000358 def: "A frontonasal dysplasia that has_material_basis_in homozygous mutation in the ALX1 gene on chromosome 12q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20451171/ "DO", https://pubmed.ncbi.nlm.nih.gov/27324866/ "DO"] synonym: "FND3" EXACT [] synonym: "MIM:613456" RELATED [] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081044 ! frontonasal dysplasia is_a: DOID:1059 ! intellectual disability is_a: DOID:10629 ! microphthalmia is_a: DOID:674 ! cleft palate is_a: DOID:9003133 ! Hypertelorism created_by: mtutaj creation_date: 2022-02-21T22:58:17Z [Term] id: DOID:0081048 name: congenital limbs-face contractures-hypotonia-developmental delay syndrome alt_id: DOID:9005675 def: "A syndrome that is characterized by congenital contractures of the limbs and face, resulting in characteristic facial features, hypotonia, and variable degrees of developmental delay and that has_material_basis_in heterozygous mutation in the NALCN gene on chromosome 13q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25864427/ "DO", https://pubmed.ncbi.nlm.nih.gov/30167850/ "DO", https://www.nature.com/articles/s41598-019-48071-x "DO"] synonym: "CLIFAHDD" EXACT [] synonym: "CLIFAHDD syndrome" EXACT [] synonym: "congenital contractures of the limbs and face, hypotonia, and developmental delay" EXACT [] synonym: "NALCN-RELATED CONDITION" BROAD [] synonym: "NALCN-RELATED DISORDERS" BROAD [] xref: EFO:1001868 xref: MIM:616266 xref: ORDO:562528 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9006836 ! Contracture is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-02-21T23:00:03Z [Term] id: DOID:0081049 name: hepatosplenic T-cell lymphoma def: "A mature T-cell and NK-cell lymphoma that is characterized by the presence of medium-size neoplastic lymphocytes infiltrating the hepatic sinusoids and that originates from cytotoxic T-cells, usually of gamma/delta T-cell type. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7596851/ "DO"] xref: NCI:C8459 xref: ORDO:86882 is_a: DOID:0050743 ! mature T-cell and NK-cell lymphoma created_by: mtutaj creation_date: 2022-02-21T23:02:42Z [Term] id: DOID:0081050 name: primary cutaneous gamma-delta T-cell lymphoma def: "A primary cutaneous T-cell non-Hodgkin lymphoma that is characterized by the clonal cutaneous proliferation of activated mature gamma-delta T cells with a cytotoxic phenotype. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3471805/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC8628721/ "DO"] synonym: "cutaneous gamma/delta T-cell lymphoma" EXACT [] synonym: "Primary Cutaneous Gamma-Delta T Cell Lymphomas" EXACT [] xref: NCI:C45340 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma created_by: mtutaj creation_date: 2022-02-21T23:05:14Z [Term] id: DOID:0081051 name: microcephaly, growth deficiency, seizures, and brain malformations alt_id: DOID:9008429 def: "A syndrome that is characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development, and that has_material_basis_in homozygous mutation in the WDR4 gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26416026/ "DO"] synonym: "MIGSB" EXACT [] synonym: "WDR4-RELATED CONDITION" BROAD [] xref: MIM:618346 is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006534 ! Nervous System Malformations created_by: mtutaj creation_date: 2022-02-22T07:56:24Z [Term] id: DOID:0081052 name: neurobehavioral disorder with prenatal alcohol exposure def: "A fetal alcohol spectrum disorder that is characterized by one or more deficits in neurocognition and in self-regulation plus two or more deficits in adaptive functioning, with at least 1 in communication or social communication and interaction. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27464676/ "DO", https://www.cdc.gov/ncbddd/fasd/facts.html "DO"] is_a: DOID:0050696 ! fetal alcohol spectrum disorder created_by: mtutaj creation_date: 2022-02-22T09:29:43Z [Term] id: DOID:0081055 name: central diabetes insipidus def: "A diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15070970/ "DO"] xref: GARD:6015 xref: ORDO:178029 is_a: DOID:9409 ! diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:30:52Z [Term] id: DOID:0081057 name: gestational diabetes insipidus alt_id: DOID:9007430 def: "A diabetes insipidus that is characterized by progressively rising levels of placental vasopressinase throughout pregnancy, resulting in decreased endogenous vasopressin and resulting hypotonic polyuria worsening through the pregnancy. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32205050/ "DO"] synonym: "transient diabetes insipidus of pregnancy" EXACT [] xref: MESH:C548014 is_a: DOID:9409 ! diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:34:44Z [Term] id: DOID:0081058 name: dipsogenic diabetes insipidus alt_id: DOID:9006797 def: "A diabetes insipidus that is characterized by excessive thirst, polyuria with low urine osmolality, and intact urine concentrating ability. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33916272/ "DO", https://pubmed.ncbi.nlm.nih.gov/3455068/ "DO"] xref: MESH:C548013 is_a: DOID:9409 ! diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:36:33Z [Term] id: DOID:0081059 name: X-linked central diabetes insipidus def: "A central diabetes insipidus that has_material_basis_in X-linked inheritance. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15070970/ "DO"] synonym: "X-linked neurohypophyseal diabetes insipidus" EXACT [] xref: MIM:304900 xref: ORDO:30925 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0081055 ! central diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:38:08Z [Term] id: DOID:0081060 name: X-linked nephrogenic diabetes insipidus alt_id: DOID:9008715 def: "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in a mutation in the gene encoding the vasopressin V2 receptor (AVPR2) on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11181969/ "DO"] synonym: "AVPR2-RELATED CONDITION" BROAD [] synonym: "NDI1" EXACT [] synonym: "Nephrogenic Diabetes Insipidus 1" EXACT [] synonym: "nephrogenic diabetes insipidus type 1" EXACT [] synonym: "Nephrogenic Diabetes Insipidus, Type I" EXACT [] synonym: "X-linked nephrogenic diabetes insipidus 1" EXACT [] synonym: "XNDI" EXACT [] xref: MIM:304800 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12387 ! nephrogenic diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:47:46Z [Term] id: DOID:0081061 name: nephrogenic diabetes insipidus type 2 alt_id: DOID:9005273 def: "A nephrogenic diabetes insipidus that is characterized by the inability of the renal collecting ducts to absorb water in response to antidiuretic hormone and that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding the aquaporin-2 water channel (AQP2), which maps to chromosome 12q13. (DO)" [https://medlineplus.gov/ency/article/000511.htm "DO"] synonym: "autosomal nephrogenic diabetes insipidus-2" EXACT [] synonym: "Diabetes Insipidus, Nephrogenic, Autosomal" EXACT [] synonym: "NDI2" EXACT [] synonym: "Nephrogenic Diabetes Insipidus 2" EXACT [] synonym: "Nephrogenic Diabetes Insipidus, Type II" EXACT [] xref: MIM:125800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12387 ! nephrogenic diabetes insipidus created_by: mtutaj creation_date: 2022-02-22T09:56:58Z [Term] id: DOID:0081063 name: DICER1 syndrome def: "A syndrome that is characterized by an increased risk of developing pleuropulmonary blastoma, multinodular goiter, ovarian Sertoli-Leydig cell tumors, and/or other types of tumors, and that has_material_basis_in heterozygous mutation in the DICER1 gene on chromosome 14q32. Mutations of the gene encoding the endoribonuclease, Dicer, disrupts the biogenesis and processing of miRNAs with subsequent disruption in control of gene expression. (DO)" [https://medlineplus.gov/genetics/condition/dicer1-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/31409088/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC5977116/ "DO"] synonym: "Pleuro-pulmonary blastoma familial tumor susceptibility" EXACT [] synonym: "Pleuro-pulmonary blastoma familial tumor susceptibility syndrome" EXACT [] synonym: "Pleuropulmonary blastoma familial tumor susceptibility syndrome" EXACT [] synonym: "PPB familial tumor susceptibility syndrome" EXACT [] xref: EFO:0009068 xref: MIM:601200 xref: ORDO:284343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:4765 ! pulmonary blastoma created_by: mtutaj creation_date: 2022-04-04T09:48:19Z [Term] id: DOID:0081064 name: BN2 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as BN2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and BN2 DLBCLs often, but do not always, have a translocation involving the BCL6 locus and/or some combination of mutations affecting NOTCH2, TNFAIP3, BCL10 and UBE2A. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting CD70, which can be coding or non-coding. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29641966/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ "DO"] synonym: "BN2 DLBCL" EXACT [] xref: NCI:C148395 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-04T09:54:15Z [Term] id: DOID:0081065 name: EZB diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29641966/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ "DO"] synonym: "EZB DLBCL" EXACT [] xref: NCI:C148398 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-04T09:55:38Z [Term] id: DOID:0081066 name: MCD diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as MCD with high probability by the LymphGen algorithm. This is based on a combination of genetic features and MCD DLBCLs often, but do not always, have the most common hot spot mutation in MYD88 (L265P) and/or activating mutations in CD79B. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting PIM1 and/or ETV6, which can be coding or non-coding. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29641966/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ "DO"] synonym: "MCD DLBCL" EXACT [] xref: NCI:C148394 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-04T09:56:39Z [Term] id: DOID:0081067 name: N1 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as N1 with high probability by the LymphGen algorithm. This is based on a combination of genetic features. Although N1 DLBCLs always have an activating mutation affecting NOTCH1, LymphGen can assign cases with this mutation to other classes, depending on the presence of other genetic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29641966/ "DO"] synonym: "N1 DLBCL" EXACT [] xref: MONDO:0850471 xref: NCI:C148396 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-04T09:57:37Z [Term] id: DOID:0081068 name: ST2 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is categorized as ST2 with high probability by the LymphGen algorithm. This is based on a combination of genetic features and ST2 DLBCLs often, but do not always, have missense or nonsense mutations affecting TET2 and NFKBIA. This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting some combination of SGK1, ZFP36L1, SOCS1, HIST1H1E and CD83, which can be coding or non-coding. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC6010183/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC8459709/ "DO"] synonym: "ST2 DLBCL" EXACT [] is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-28T16:52:11Z [Term] id: DOID:0081069 name: A53 diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that is characterized by aneuploidy with TP53 inactivation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32289277/ "DO"] synonym: "A53 DLBCL" EXACT [] is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-28T16:53:13Z [Term] id: DOID:0081070 name: EZB-MYC+ diffuse large B-cell lymphoma def: "An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32289277/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC6010183/ "DO"] synonym: "EZB-MYC+ DLBCL" EXACT [] is_a: DOID:0081065 ! EZB diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-28T16:54:03Z [Term] id: DOID:0081071 name: EZB-MYC- diffuse large B-cell lymphoma def: "An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32289277/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC6010183/ "DO"] synonym: "EZB-MYC- DLBCL" EXACT [] is_a: DOID:0081065 ! EZB diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2022-04-28T16:54:56Z [Term] id: DOID:0081072 name: craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome alt_id: DOID:9006917 def: "A syndrome that is characterized by abnormal development of the brain and structures in the face and torso including facial dysmorphism, intellectual deficit costovertebral abnormalities, and delayed development of speech and movement (motor) skills. (DO)" [https://medlineplus.gov/genetics/condition/cerebro-facio-thoracic-dysplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/20018682/ "DO", https://pubmed.ncbi.nlm.nih.gov/24194475/ "DO", https://pubmed.ncbi.nlm.nih.gov/30556256/ "DO"] synonym: "Cerebro-facio-thoracic dysplasia" EXACT [] synonym: "Cerebrofaciothoracic Dysplasia" EXACT [] synonym: "CFSMR" EXACT [] synonym: "Pascual-Castroviejo syndrome" EXACT [] synonym: "TMCO1 defect syndrome" EXACT [] xref: GARD:1210 xref: MESH:C565862 xref: MIM:PS213980 xref: ORDO:1394 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2022-06-02T22:06:05Z [Term] id: DOID:0081073 name: Teebi hypertelorism syndrome alt_id: DOID:9006500 alt_id: DOID:9007841 def: "A syndrome characterized by hypertelorism, prominent forehead, thick eyebrows, and short nose with broad and depressed features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26111080/ "DO", https://www.omim.org/entry/145420 "DO"] synonym: "brachycephalofrontonasal dysplasia" EXACT [] synonym: "Hypertelorism, Teebi type" EXACT [] synonym: "Teebi Syndrome" EXACT [] xref: GARD:957 xref: MESH:C536951 xref: MIM:PS145420 xref: ORDO:2745 is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-06-02T21:50:12Z [Term] id: DOID:0081074 name: Teebi hypertelorism syndrome 2 alt_id: DOID:9000320 def: "A Teebi hypertelorism syndrome that has_material_basis_in mutation in heterozygous mutation in the CDH11 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33811546/ "DO"] synonym: "TBHS2" EXACT [] xref: MIM:619736 is_a: DOID:0081073 ! Teebi hypertelorism syndrome created_by: mtutaj creation_date: 2022-06-02T22:15:05Z [Term] id: DOID:0081075 name: Marsili syndrome alt_id: DOID:9007785 alt_id: MIM:147430 def: "A syndrome that is characterized by a lowered ability to sense pain, to experience temperature, and to sweat and that has_material_basis_in heterozygous mutation in the ZFHX2 gene on chromosome 14q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29253101/ "DO"] synonym: "Congenital Analgesia, Autosomal Dominant" EXACT [] synonym: "IMPAIRED THERMAL SENSITIVITY" NARROW [] synonym: "Indifference to Pain, Congenital, Autosomal Dominant" EXACT [] synonym: "INSENSITIVITY TO PAIN, CONGENITAL, AUTOSOMAL DOMINANT" EXACT [] synonym: "MARSIS" EXACT [] xref: MESH:C564128 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008482 ! Congenital Pain Insensitivity created_by: mtutaj creation_date: 2022-06-02T22:17:50Z [Term] id: DOID:0081076 name: blastic plasmacytoid dendritic cell neoplasm def: "An acute leukemia that is derived from the precursors of plasmacytoid dendritic cells, with a high frequency of cutaneous and bone marrow involvement and leukemic dissemination. Skin lesions appearing on the arms, legs, face and neck are the most common BPDCN symptom. Other symptoms include low counts of healthy blood cells and swollen lymph nodes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30350260/ "DO", https://pubmed.ncbi.nlm.nih.gov/31972688/ "DO", https://www.lls.org/leukemia/blastic-plasmacytoid-dendritic-cell-neoplasm "DO"] synonym: "Agranular CD4+ CD56+ Hematodermic Neoplasm/Tumor" EXACT [] synonym: "Agranular CD4+ Natural Killer Cell Leukemia" EXACT [] synonym: "Blastic Natural Killer Leukemia/Lymphoma" EXACT [] synonym: "Blastic NK-Cell Lymphoma" EXACT [] synonym: "CD4+/CD56+ Hematodermic Neoplasm" EXACT [] synonym: "natural killer (NK) cell leukemia/lymphoma" EXACT [] xref: EFO:0010580 xref: GARD:10556 xref: NCI:C7203 is_a: DOID:12603 ! acute leukemia created_by: mtutaj creation_date: 2022-06-02T22:21:46Z [Term] id: DOID:0081077 name: ectodermal dysplasia and immune deficiency alt_id: DOID:9003414 def: "An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. (DO)" [https://medlineplus.gov/genetics/condition/anhidrotic-ectodermal-dysplasia-with-immune-deficiency/ "DO", https://pubmed.ncbi.nlm.nih.gov/27477329/ "DO", https://pubmed.ncbi.nlm.nih.gov/34815879/ "DO"] synonym: "Anhidrotic ectodermal dysplasia with immune deficiency" EXACT [] synonym: "Ectodermal Dysplasia and Immunodeficiency" EXACT [] synonym: "Ectodermal dysplasia, hypohidrotic, with immune deficiency" EXACT [] xref: GARD:9936 xref: MIM:PS300291 is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2022-06-02T22:24:16Z [Term] id: DOID:0081078 name: ectodermal dysplasia and immunodeficiency 1 alt_id: DOID:9005011 alt_id: MESH:C564538 alt_id: MESH:C564542 alt_id: MIM:300291 def: "An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31965418/ "DO"] synonym: "anhidrotic ectodermal dysplasia with immunodeficiency, osteopetrosis, and lymphedema" EXACT [] synonym: "Ectodermal Dysplasia, Anhidrotic, with Immune Deficiency" EXACT [] synonym: "EDA-ID" EXACT [] synonym: "EDAID1" EXACT [] synonym: "HED-ID ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH IMMUNE DEFICIENCY" EXACT [] synonym: "Hypohidrotic Ectodermal Dysplasia, with Immune Deficiency" EXACT [] synonym: "OLEDAID" EXACT [] synonym: "XHM-ED" EXACT [] synonym: "X-linked hyper-IgM immunodeficiency with hypohidrotic ectodermal dysplasia" EXACT [] xref: MESH:C536181 xref: NCI:C118844 xref: ORDO:69088 is_a: DOID:0060022 ! CD40 ligand deficiency is_a: DOID:0081077 ! ectodermal dysplasia and immune deficiency is_a: DOID:13533 ! osteopetrosis is_a: DOID:4977 ! lymphedema created_by: mtutaj creation_date: 2022-06-02T22:27:35Z [Term] id: DOID:0081079 name: ectodermal dysplasia and immunodeficiency 2 alt_id: DOID:9000561 alt_id: MIM:612132 def: "An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28597146/ "DO"] synonym: "anhidrotic ectodermal dysplasia with immunodeficiency 2" EXACT [] synonym: "anhidrotic ectodermal dysplasia with T-cell immunodeficiency, autosomal dominant" EXACT [] synonym: "EDAID2" EXACT [] synonym: "hypohidrotic ectodermal dysplasia with immunodeficiency 2" EXACT [] xref: MESH:C567411 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081077 ! ectodermal dysplasia and immune deficiency created_by: mtutaj creation_date: 2022-06-02T22:30:02Z [Term] id: DOID:0081080 name: acute myeloid leukemia with t(6;9) (p23;q34.1) def: "An acute myeloid leukemia associated with t(6;9)(p23;q34), resulting in DEK-NUP214(CAN) fusion protein expression. It is often associated with multilineage dysplasia and basophilia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32526729/ "DO"] synonym: "acute myeloid leukemia with t(6;9)(p23;q34)" EXACT [] synonym: "Acute Myeloid Leukemia with t(6;9) (p23;q34.1); DEK-NUP214" EXACT [] synonym: "DEK-NUP214" EXACT [] xref: ICDO:9865/3 xref: NCI:C82423 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:31:55Z [Term] id: DOID:0081081 name: acute promyelocytic leukemia with PML-RARA def: "An acute promyelocytic leukemia that is characterized by a severe coagulopathy and the t(15;17)(q24;q21), generating a PML-RARA fusion gene, and where abnormal promyelocytes predominate. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24720386/ "DO"] synonym: "acute promyelocytic leukemia, t(15;17)(q22;q11-12)" EXACT [] xref: EFO:0000224 xref: ICDO:9866/3 is_a: DOID:0060318 ! acute promyelocytic leukemia created_by: mtutaj creation_date: 2022-06-02T22:34:45Z [Term] id: DOID:0081082 name: acute myelomonocytic leukemia alt_id: DOID:9000952 def: "An acute myeloid leukemia that is characterized by the proliferation of both neutrophil and monocyte precursors. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31915926/ "DO"] synonym: "acute myeloid leukemia, M4" EXACT [] synonym: "Acute Myelomonocytic Leukemias" EXACT [] synonym: "Naegeli-Type Myeloid Leukemia" EXACT [] xref: EFO:0000223 xref: ICD10CM:C92.5 xref: ICDO:9867/3 xref: MESH:D015479 xref: NCI:C7463 xref: ORDO:517 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:35:56Z [Term] id: DOID:0081083 name: acute myeloid leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2) def: "An acute myeloid leukemia associated with inv(3)(q21q26.2) or t(3;3)(q21;q26.2), resulting in the expression of RPN1-EVI1 fusion protein and the reposition of a distal GATA2 enhancer to activate MECOM expression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31711889/ "DO"] synonym: "Acute Myeloid Leukemia with inv(3) (q21.3;q26.2) or t(3;3) (q21.3;q26.2); GATA2, MECOM" EXACT [] synonym: "Acute myeloid leukemia with inv(3)(q21;q26.2) or t(3;3)(q21;q26.2); RPN1-EVI1" EXACT [] xref: ICDO:9869/3 xref: NCI:C82426 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:40:06Z [Term] id: DOID:0081084 name: acute myeloid leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22) def: "An acute myeloid leukemia that is characterized by the presence of abnormal bone marrow eosinophils and the characteristic cytogenetic abnormality inv(16)(p13.1q22) or t(16;16)(p13.1;q22), which results in the expression of the fusion protein CBFB-MYH11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31353165/ "DO", https://pubmed.ncbi.nlm.nih.gov/33303720/ "DO"] synonym: "acute myeloid leukemia with abnormal marrow eosinophils" EXACT [] synonym: "Acute Myeloid Leukemia with inv(16)(p13.1q22) or t(16;16)(p13.1;q22); CBFB-MYH11" EXACT [] xref: ICDO:9871/3 xref: NCI:C9287 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:41:34Z [Term] id: DOID:0081085 name: acute myeloid leukemia with minimal differentiation def: "An acute myeloid leukemia in which the blasts do not show evidence of myeloid differentiation by morphology and conventional cytochemistry. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12110349/ "DO"] synonym: "Acute myeloid leukemia, minimal differentiation" EXACT [] synonym: "AML-M0" EXACT [] xref: EFO:0003026 xref: ICDO:9872/3 xref: NCI:C8460 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:42:39Z [Term] id: DOID:0081086 name: acute myeloid leukemia without maturation def: "An acute myeloid leukemia that is characterized by blasts without evidence of significant maturation in the neutrophilic lineage. (DO)" [https://wiki.clinicalflow.com/aml-acute-myelogenous-leukemia-without-maturation-m1 "DO"] xref: EFO:0003027 xref: GARD:526 xref: ICDO:9873/3 xref: NCI:C3249 xref: ORDO:98833 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:44:08Z [Term] id: DOID:0081087 name: acute myeloid leukemia with maturation def: "An acute myeloid leukemia characterized by blasts with evidence of significant maturation in the neutrophilic lineage. (DO)" [https://en.wikipedia.org/wiki/Acute_myeloblastic_leukemia_with_maturation "DO"] xref: EFO:0003028 xref: ICDO:9874/3 xref: NCI:C3250 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:45:31Z [Term] id: DOID:0081088 name: chronic myelogenous leukemia, BCR-ABL1 positive def: "A chronic myeloid leukemia that is characterized by an abnormally high number of neutrophils and the expression of the BCR-ABL1 fusion gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32239758/ "DO"] synonym: "Chronic myelogenous leukemia, BCR/ABL positive" EXACT [] xref: EFO:0000339 xref: ICDO:9875/3 is_a: DOID:8552 ! chronic myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:46:45Z [Term] id: DOID:0081089 name: acute myeloid leukemia with mutated NPM1 def: "An acute myeloid leukemia with mutation of the nucleophosmin gene. It is usually associated with normal karyotype and frequently has myelomonocytic or monocytic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32609823/ "DO"] xref: ICDO:9877/3 xref: NCI:C82431 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:48:00Z [Term] id: DOID:0081090 name: acute myeloid leukemia with biallelic mutation of CEBPA def: "An acute myeloid leukemia with double mutations of the CEBPA gene. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5394975/ "DO"] xref: ICDO:9878/3 xref: NCI:C129782 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:49:05Z [Term] id: DOID:0081091 name: acute myeloid leukemia with mutated RUNX1 def: "An acute myeloid leukemia that is characterized by de novo RUNX1 gene mutation, not associated with myelodysplastic syndrome-related cytogenetic abnormalities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32871587/ "DO"] xref: ICDO:9879/3 xref: NCI:C129786 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:50:12Z [Term] id: DOID:0081092 name: acute myeloid leukemia with myelodysplasia-related changes def: "An acute myeloid leukemia with at least 20% blasts in the bone marrow or blood and one of the following: a previous history of myelodysplastic syndrome; multilineage dysplasia; or myelodysplastic syndrome-related cytogenetic abnormalities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32864703/ "DO"] xref: ICDO:9895/3 xref: NCI:C7600 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:51:33Z [Term] id: DOID:0081093 name: acute myeloid leukemia with t(8;21); (q22; q22.1) def: "An acute myeloid leukemia associated with t(8;21)(q22;q22) resulting in RUNX1-RUNX1T1 fusion protein expression. The bone marrow and the peripheral blood show large myeloblasts with abundant basophilic cytoplasm, often containing azurophilic granules. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31004601/ "DO", https://pubmed.ncbi.nlm.nih.gov/35502592/ "DO"] synonym: "acute myeloid leukemia, t(8;21)(q22;q22)" EXACT [] synonym: "Acute Myeloid Leukemia with t(8;21); (q22; q22.1); RUNX1-RUNX1T1" EXACT [] xref: ICDO:9896/3 xref: NCI:C9288 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:52:31Z [Term] id: DOID:0081094 name: acute myeloid leukemia with MLL rearrangement def: "An acute myeloid leukemia characterized by rearrangement of the MLL (mixed-lineage leukemia) gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34964255/ "DO"] synonym: "acute myeloid leukemia, 11q23 abnormalities" EXACT [] synonym: "Acute Myeloid Leukemia with KMT2A/MLL Rearrangement" EXACT [] xref: ICDO:9897/3 xref: NCI:C174129 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:53:30Z [Term] id: DOID:0081095 name: acute myeloid leukemia with mutated CEBPA def: "An acute myeloid leukemia with non-germline mutations of the CEBPA gene. (DO)" [https://medlineplus.gov/genetics/condition/familial-acute-myeloid-leukemia-with-mutated-cebpa/ "DO"] xref: ICDO:9861/3 xref: NCI:C82433 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:54:35Z [Term] id: DOID:0081096 name: acute myeloid leukemia with t(1;22)(p13;q13) def: "An acute myeloid leukemia typically showing megakaryocytic maturation and associated with t(1;22)(p13;q13), resulting in the expression of RBM15-MKL1 fusion protein. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22469944/ "DO"] synonym: "Acute Myeloid Leukemia (Megakaryoblastic) with t(1;22)(p13.3;q13.1); RBM15-MKL1" EXACT [] xref: ICDO:9911/3 xref: NCI:C82427 is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2022-06-02T22:55:46Z [Term] id: DOID:0081097 name: Rafiq syndrome alt_id: DOID:9001597 def: "An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29908352/ "DO"] synonym: "CDG2U" EXACT [] synonym: "MAN1B1-CDG" EXACT [] synonym: "MAN1B1-RELATED DISORDER" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 15" EXACT [] synonym: "MRT15" EXACT [] synonym: "RAFQS" EXACT [] xref: MIM:614202 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-06-02T22:56:56Z [Term] id: DOID:0081098 name: autosomal recessive intellectual developmental disorder 13 alt_id: DOID:9002559 alt_id: MIM:613192 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRAPPC9 gene on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22549410/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 13" EXACT [] synonym: "INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME" EXACT [] synonym: "mental retardation, autosomal recessive 13" EXACT [] synonym: "MRT13" EXACT [] synonym: "TRAPPC9-RELATED CONDITION" EXACT [] xref: MESH:C567714 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-06-02T22:59:26Z [Term] id: DOID:0081099 name: neurodevelopmental disorder with brain abnormalities, poor growth, and dysmorphic facies alt_id: DOID:9003083 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with delayed walking, impaired intellectual development, and speech delay apparent from infancy or early childhood and that has_material_basis_in homozygous mutation in the ADAT3 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30296593/ "DO"] synonym: "INTELLECTUAL DISABILITY-STRABISMUS SYNDROME" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 36" EXACT [] synonym: "MRT36" EXACT [] xref: MIM:615286 xref: NCI:C186789 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-06-02T23:04:16Z [Term] id: DOID:0081100 name: spastic paraplegia with deafness alt_id: DOID:9005350 alt_id: MIM:312910 def: "A hereditary spastic paraplegia that is characterized spastic paraplegia, tremor, cataracts, deafness, short stature, and hypogonadism presenting in the end of the first decade of life. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27271711/ "DO", https://pubmed.ncbi.nlm.nih.gov/3741213/ "DO"] synonym: "familial spastic paraparesis and deafness" EXACT [] synonym: "spastic paraparesis and deafness" EXACT [] synonym: "spastic paraparesis-deafness syndrome" EXACT [] synonym: "Wells Jankovic Syndrome" EXACT [] xref: GARD:5555 xref: MESH:C536692 xref: ORDO:2815 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2022-07-27T16:59:17Z [Term] id: DOID:0081101 name: nonautoimmune hyperthyroidism alt_id: DOID:9004050 def: "A hyperthyroidism that is characterized by passive transfer of maternal autoantibodies and that has_material_basis_in heterozygous mutation in the thyroid-stimulating hormone receptor gene (TSHR) on chromosome 14q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8964822/ "DO"] synonym: "nonautoimmune hyperthyroidism, autosomal dominant" EXACT [] synonym: "nonautoimmune hyperthyroidism, congenital" EXACT [] synonym: "Toxic Thyroid Hyperplasia, Autosomal Dominant" EXACT [] xref: MESH:C563786 xref: MIM:609152 xref: MONDO:0012203 xref: ORDO:424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7998 ! hyperthyroidism created_by: mtutaj creation_date: 2022-07-27T17:19:09Z [Term] id: DOID:0081102 name: familial gestational hyperthyroidism alt_id: DOID:9000010 alt_id: MIM:603373 def: "A hyperthyroidism that is characterized by promiscuous stimulation of the thyrotropin receptor by the excess chorionic gonadotropin and that has_material_basis_in heterozygous mutation in the gene encoding the thyroid-stimulating hormone receptor (TSHR) on chromosome 14q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9267761/ "DO"] xref: MESH:C566384 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7998 ! hyperthyroidism is_a: DOID:9004702 ! Pregnancy Complications created_by: mtutaj creation_date: 2022-07-27T18:18:46Z [Term] id: DOID:0081104 name: hot water epilepsy alt_id: DOID:9001217 def: "A reflex epilepsy that is characterized by seizures triggered by the stimulus of bathing with hot water poured over the head. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12558829/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ "DO"] synonym: "BATHING EPILEPSY" EXACT [] synonym: "hot water epilepsies" EXACT [] synonym: "WATER IMMERSION EPILEPSY" EXACT [] xref: MIM:PS613339 xref: ORDO:166412 is_a: DOID:2548 ! reflex epilepsy created_by: mtutaj creation_date: 2022-07-27T18:20:47Z [Term] id: DOID:0081105 name: keratosis palmoplantaris striata def: "A palmoplantar keratosis that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29934816/ "DO"] xref: ORDO:50942 is_a: DOID:3390 ! palmoplantar keratosis created_by: mtutaj creation_date: 2022-07-27T18:28:22Z [Term] id: DOID:0081106 name: hot water epilepsy 1 alt_id: DOID:9004520 def: "A hot water epilepsy that has_material_basis_in a susceptibility locus for hot water epilepsy (HWE1) mapped to chromosome 10q21.3-q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12558829/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ "DO"] synonym: "HWE1" EXACT [] xref: MIM:613339 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081104 ! hot water epilepsy created_by: mtutaj creation_date: 2022-07-27T18:30:26Z [Term] id: DOID:0081107 name: hot water epilepsy 2 alt_id: DOID:9000000 def: "A hot water epilepsy that has_material_basis_in linkage to chromosome 4q24-q28. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4692029/ "DO"] synonym: "HWE2" EXACT [] xref: MIM:613340 is_a: DOID:0081104 ! hot water epilepsy created_by: mtutaj creation_date: 2022-07-27T18:32:06Z [Term] id: DOID:0081108 name: keratosis palmoplantaris striata 1 alt_id: DOID:9005618 alt_id: MIM:148700 def: "A keratosis palmoplantaris striata that is characterized by hyperkeratotic lesions that are restricted to the pressure regions extending longitudinally in the length of each finger to the palm and that has_material_basis_in heterozygous mutation in the DSG1 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29934816/ "DO"] synonym: "DSG1-RELATED CONDITION" BROAD [] synonym: "keratoderma, palmoplantar striate form 1" EXACT [] synonym: "Keratoderma, Palmoplantar, Striate Form I" EXACT [] synonym: "Keratosis Palmoplantaris Striata I" EXACT [] synonym: "KPPS1" EXACT [] synonym: "PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE" EXACT [] synonym: "PPKS1" EXACT [] synonym: "SPPK1" EXACT [] synonym: "Striate palmoplantar keratoderma 1" EXACT [] synonym: "striate palmoplantar keratoderma I" EXACT [] xref: GARD:9172 xref: MESH:C536162 xref: ORDO:369999 xref: ORDO:370002 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081105 ! keratosis palmoplantaris striata created_by: mtutaj creation_date: 2022-07-27T18:33:41Z [Term] id: DOID:0081109 name: keratosis palmoplantaris striata 2 alt_id: DOID:9006504 alt_id: MIM:612908 def: "A keratosis palmoplantaris striata that is characterized by linear hyperkeratosis of the palms, which is particularly evident in affected individuals who perform manual labor and that has_material_basis_in heterozygous mutation in the DSP gene on chromosome 6p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10594734/ "DO"] synonym: "Keratoderma, Palmoplantar, Striate Form II" EXACT [] synonym: "Keratosis Palmoplantaris Striata II" EXACT [] synonym: "KPPS2" EXACT [] synonym: "PPKS2" EXACT [] synonym: "SPPK2" EXACT [] synonym: "Striate Palmoplantar Keratoderma II" EXACT [] xref: MESH:C565102 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081105 ! keratosis palmoplantaris striata created_by: mtutaj creation_date: 2022-07-27T18:35:52Z [Term] id: DOID:0081110 name: keratosis palmoplantaris striata 3 alt_id: DOID:9000001 alt_id: MIM:607654 def: "A keratosis palmoplantaris striata that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11982762/ "DO"] synonym: "Keratosis Palmoplantaris Striata III" EXACT [] synonym: "KPPS3" EXACT [] synonym: "palmoplantar keratoderma, striate form 3" EXACT [] synonym: "palmoplantar keratoderma, striate form III" EXACT [] synonym: "PPKS3" EXACT [] synonym: "SPPK3" EXACT [] synonym: "Striate palmoplantar keratoderma 3" EXACT [] synonym: "striate palmoplantar keratoderma III" EXACT [] xref: MESH:C536163 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081105 ! keratosis palmoplantaris striata created_by: mtutaj creation_date: 2022-07-27T18:36:05Z [Term] id: DOID:0081111 name: osteosclerotic metaphyseal dysplasia alt_id: DOID:9000003 def: "A metaphyseal dysplasia that is characterized by distinctive radiographic changes, including osteosclerosis localized predominantly to the metaphyses of the long bones and that has_material_basis_in homozygous mutation in the LRRK1 gene on chromosome 15q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18811698/ "DO"] synonym: "LRRK1-RELATED CONDITION" EXACT [] synonym: "OSMD" EXACT [] xref: MIM:615198 xref: ORDO:500548 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080019 ! metaphyseal dysplasia is_a: DOID:4254 ! osteosclerosis is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-07-27T18:39:52Z [Term] id: DOID:0081112 name: Baraitser-Winter syndrome 1 alt_id: DOID:9004677 alt_id: MIM:243310 def: "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTB gene on chromosome 7p22. A subset of patients have a larger deletion of chromosome 7p22 including the ACTB gene and additional variable genes, consistent with a contiguous gene deletion syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29220674/ "DO"] synonym: "ACTB-RELATED BAFOPATHY" BROAD [] synonym: "BRWS1" EXACT [] synonym: "cerebrooculofacial lymphatic syndrome" EXACT [] synonym: "COFLS" EXACT [] synonym: "iris coloboma with ptosis, hypertelorism, and mental retardation" EXACT [] xref: MESH:C565462 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060229 ! Baraitser-Winter syndrome created_by: mtutaj creation_date: 2022-07-27T18:42:41Z [Term] id: DOID:0081113 name: Baraitser-Winter syndrome 2 alt_id: DOID:9000005 def: "A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25052316/ "DO"] synonym: "ACTG1-RELATED CONDITION" BROAD [] synonym: "ACTG1-RELATED DISORDER" BROAD [] synonym: "BRWS2" EXACT [] xref: MIM:614583 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060229 ! Baraitser-Winter syndrome created_by: mtutaj creation_date: 2022-07-27T18:44:37Z [Term] id: DOID:0081114 name: benign familial infantile seizures 1 alt_id: DOID:9000650 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in the BFIS1 locus mapped to chromosome 19q. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9339675/ "DO"] synonym: "benign familial infantile convulsions 1" EXACT [] synonym: "BFIC1" EXACT [] synonym: "BFIS1" EXACT [] xref: MIM:601764 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:46:23Z [Term] id: DOID:0081115 name: benign familial infantile seizures 2 alt_id: DOID:9000007 alt_id: MIM:605751 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the PRRT2 gene on chromosome 16p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18479385/ "DO"] synonym: "Benign Familial Infantile Convulsions 2" EXACT [] synonym: "BFIC2" EXACT [] synonym: "BFIS2" EXACT [] xref: MESH:C565296 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:46:34Z [Term] id: DOID:0081116 name: benign familial infantile seizures 3 alt_id: DOID:9005759 alt_id: MIM:607745 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutations in the SCN2A gene on chromosome 2q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11094099/ "DO"] synonym: "benign familial infantile convulsions 3" EXACT [] synonym: "benign familial neonatal convulsions 3" EXACT [] synonym: "benign familial neonatal-infantile seizures" EXACT [] synonym: "benign neonatal epilepsy, 3" EXACT [] synonym: "BFIC3" EXACT [] synonym: "BFIS3" EXACT [] synonym: "SCN2A-related disorder" BROAD [] xref: MESH:C564274 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:46:45Z [Term] id: DOID:0081117 name: benign familial infantile seizures 4 alt_id: DOID:9007125 alt_id: MIM:612627 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in an association on chromosome 1p36.12-p35.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18811698/ "DO"] synonym: "benign familial infantile convulsions, 4" EXACT [] synonym: "BFIC4" EXACT [] synonym: "BFIS4" EXACT [] xref: MESH:C567231 is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:46:58Z [Term] id: DOID:0081118 name: benign familial infantile seizures 5 alt_id: DOID:9003651 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the SCN8A gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23086396/ "DO"] synonym: "benign familial infantile convulsions 5" EXACT [] synonym: "BFIC5" EXACT [] synonym: "BFIS5" EXACT [] xref: MIM:617080 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:47:08Z [Term] id: DOID:0081119 name: benign familial infantile seizures 6 def: "A benign familial infantile epilepsy that is characterized by afebrile partial complex or generalized tonic-clonic seizures occurring between 3 and 12 months of age with a good response to medication and no neurologic sequelae and that has_material_basis_in mutation in the CHRNA2 gene on chromosome 8p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25847220/ "DO"] synonym: "autosomal dominant nocturnal frontal lobe epilepsy" EXACT [] synonym: "benign familial infantile convulsions 6" EXACT [] synonym: "BFIC6" EXACT [] synonym: "BFIS6" EXACT [] synonym: "nocturnal frontal lobe epilepsy-4" EXACT [] xref: MIM:610353 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060169 ! benign familial infantile epilepsy created_by: mtutaj creation_date: 2022-07-27T18:56:58Z [Term] id: DOID:0081120 name: Graves ophthalmopathy alt_id: DOID:9000008 def: "An autoimmune disease of eyes, ear, nose and throat that is characterized by upper eyelid retraction, lid lag, swelling, redness, conjunctivitis, and bulging eyes. (DO)" [https://en.wikipedia.org/wiki/Graves%27_ophthalmopathy "DO"] synonym: "Congestive Ophthalmopathies" EXACT [] synonym: "Congestive Ophthalmopathy" EXACT [] synonym: "Dysthyroid Ophthalmopathies" EXACT [] synonym: "Dysthyroid Ophthalmopathy" EXACT [] synonym: "Edematous Ophthalmopathies" EXACT [] synonym: "Edematous Ophthalmopathy" EXACT [] synonym: "Graves' Orbitopathy" NARROW [] synonym: "Infiltrative Ophthalmopathies" EXACT [] synonym: "Infiltrative Ophthalmopathy" EXACT [] synonym: "Myopathic Ophthalmopathies" EXACT [] synonym: "Myopathic Ophthalmopathy" EXACT [] synonym: "Thyroid Associated Ophthalmopathies" EXACT [] synonym: "Thyroid Associated Ophthalmopathy" EXACT [] synonym: "Thyroid-Associated Orbitopathy" NARROW [] synonym: "Thyroid Eye Disease" EXACT [] xref: MESH:D049970 is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat is_a: DOID:12361 ! Graves' disease is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2022-07-27T19:07:21Z [Term] id: DOID:0081121 name: inclusion body myopathy and brain white matter abnormalities alt_id: DOID:9000013 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that is characterized by proximal limb girdle muscle weakness affecting the lower and upper limbs and resulting in gait difficulties and scapular winging and that has_material_basis_in heterozygous mutation in the ANXA11 gene on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34048612/ "DO"] synonym: "ANXA11-RELATED CONDITION" BROAD [] synonym: "IBMWMA" EXACT [] synonym: "MSP6" EXACT [] synonym: "multisystem proteinopathy 6" EXACT [] xref: MIM:619733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia is_a: DOID:9002704 ! Leukoencephalopathies created_by: slaulede creation_date: 2022-03-18T19:11:23Z [Term] id: DOID:0081122 name: Catel Manzke syndrome alt_id: DOID:9000014 def: "A bone disease that is characterized by the Pierre Robin anomaly, which comprises cleft palate, glossoptosis, and micrognathia, and a unique form of bilateral hyperphalangy in which there is an accessory bone inserted between the second metacarpal and its corresponding proximal phalanx, resulting in radial deviation of the index finger and that has_material_basis_in homozygous or compound heterozygous mutation in the TGDS gene on chromosome 13q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18501694/ "DO"] synonym: "CATMANS" EXACT [] synonym: "Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome" EXACT [] synonym: "Index Finger Anomaly With Pierre Robin Syndrome" EXACT [] synonym: "MICROGNATHIA DIGITAL SYNDROME" EXACT [] synonym: "Palatodigital syndrome, Catel-Manzke type" EXACT [] synonym: "Pierre Robin syndrome with hyperphalangy and clinodactyly" EXACT [] xref: GARD:28 xref: MESH:C535347 xref: MIM:616145 xref: ORDO:1388 is_a: DOID:0080001 ! bone disease is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9004795 ! Congenital Hand Deformities created_by: mtutaj creation_date: 2022-07-27T20:42:14Z [Term] id: DOID:0081123 name: X-linked mental retardation Gustavson type alt_id: DOID:9000015 alt_id: MIM:309555 def: "A syndromic X-linked intellectual disability that is characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness, severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8503440/ "DO"] synonym: "GUST" EXACT [] synonym: "Gustavson syndrome" EXACT [] synonym: "intellectual developmental disorder with optic atrophy, deafness, and seizures" EXACT [] synonym: "intellectual developmental disorder, X-linked syndromic, Gustavson type" EXACT [] synonym: "Mental retardation with optic atrophy, deafness, and seizures" EXACT [] synonym: "Mental retardation X-linked severe Gustavson type" EXACT [] synonym: "MRXSG" EXACT [] xref: GARD:5611 xref: MESH:C536759 xref: ORDO:3078 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:5723 ! optic atrophy is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2022-07-27T20:46:12Z [Term] id: DOID:0081124 name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 def: "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by cranial involvement with macrocrania at birth, brachycephaly, anomalies of middle fossa structures including hypoplasia of corpus callosum, enlargement of septum pellucidum, and dilated lateral ventricles, as well as cortical atrophy and hypodensity of the gray matter and that has_material_basis_in homozygous mutation in the TMCO1 gene on chromosome 1q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24194475/ "DO"] synonym: "CFSMR1" EXACT [] xref: MIM:213980 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081072 ! craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome created_by: mtutaj creation_date: 2022-07-27T20:49:19Z [Term] id: DOID:0081125 name: craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2 def: "A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24194475/ "DO"] synonym: "CFSMR2" EXACT [] xref: MIM:616994 is_a: DOID:0081072 ! craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome created_by: mtutaj creation_date: 2022-07-27T20:49:31Z [Term] id: DOID:0081126 name: DeSanto-Shinawi syndrome alt_id: DOID:9006965 def: "A syndrome that is characterized by global developmental delay apparent in infancy or early childhood and associated with characteristic dysmorphic facial features, such as broad forehead, depressed nasal bridge with bulbous nasal tip, and deep-set eyes and that has_material_basis_in heterozygous mutation in the WAC gene on chromosome 10p11 or deletion at chromosome 10p12-p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26264232/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC9034681/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK465012/ "DO"] synonym: "chromosome 10p12-p11 deletion syndrome" NARROW [] synonym: "DESSH" EXACT [] synonym: "developmental delay, behavioral abnormalities, facial dysmorphism, and ocular abnormalities" EXACT [] synonym: "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion" EXACT [] synonym: "Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation" EXACT [] synonym: "WAC-RELATED CONDITION" EXACT [] synonym: "WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome" EXACT [] xref: MIM:616708 xref: ORDO:284169 xref: ORDO:466943 xref: ORDO:466950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-08-29T13:07:21Z [Term] id: DOID:0081127 name: mandibuloacral dysplasia def: "A bone development disease that is characterized by underdevelopment of the lower jaw and the collarbone, bone loss at the ends of the fingers and toes, skin degeneration, and partial lipodystrophy, a condition marked by selective loss of body fat from various areas of the body. (DO)" [https://medlineplus.gov/genetics/condition/mandibuloacral-dysplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/29208544/ "DO", https://rarediseases.org/rare-diseases/mandibuloacral-dysplasia/ "DO"] synonym: "GARD:11893" EXACT [] synonym: "MIM:PS248370" EXACT [] synonym: "ORDO:2457" EXACT [] is_a: DOID:0080006 ! bone development disease created_by: mtutaj creation_date: 2022-08-29T13:10:08Z [Term] id: DOID:0081128 name: mandibuloacral dysplasia type A lipodystrophy alt_id: DOID:9003444 alt_id: MIM:248370 def: "A mandibuloacral dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding lamin A/C (LMNA) on chromosome 1q22 and that is characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19764019/ "DO"] synonym: "Craniomandibular Dermatodysostosis" EXACT [] synonym: "CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL" NARROW [] synonym: "lipodystrophy type A associated with mandibuloacral dysplasia" EXACT [] synonym: "MADA" EXACT [] synonym: "MANDIBULOACRAL DYSOSTOSIS" NARROW [] synonym: "mandibuloacral dysplasia with type A lipodystrophy" EXACT [] synonym: "Mandibuloacral Dysplasia with Type A Lipodystrophy, Atypical" EXACT [] xref: GARD:3374 xref: MESH:C535705 xref: NCI:C123417 xref: ORDO:90153 is_a: DOID:0081127 ! mandibuloacral dysplasia is_a: DOID:811 ! lipodystrophy is_a: DOID:9001402 ! Acro-Osteolysis created_by: mtutaj creation_date: 2022-08-29T13:14:01Z [Term] id: DOID:0081129 name: mandibuloacral dysplasia type B lipodystrophy alt_id: DOID:9004388 alt_id: MIM:608612 def: "A mandibuloacral dysplasia that has_material_basis_in compound heterozygous mutation in the ZMPSTE24 gene on chromosome 1p34 and that is characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11836320/ "DO"] synonym: "lipodystrophy type B associated with mandibuloacral dysplasia" EXACT [] synonym: "MADB" EXACT [] synonym: "Mandibuloacral Dysplasia with Type B Lipodystrophy" EXACT [] synonym: "ZMPSTE24-related disorder" BROAD [] xref: MESH:C535706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081127 ! mandibuloacral dysplasia is_a: DOID:811 ! lipodystrophy is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-08-29T13:17:32Z [Term] id: DOID:0081130 name: BH4-deficient hyperphenylalaninemia C alt_id: DOID:9002203 def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in homozygous or compound heterozygous mutation in the QDPR gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 4p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11388593/ "DO"] synonym: "DHPR DEFICIENCY" EXACT [] synonym: "DIHYDROPTERIDINE REDUCTASE DEFICIENCY" EXACT [] synonym: "Dihydropteridine Reductase Deficiency Disease" EXACT [] synonym: "HPABH4C" EXACT [] synonym: "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO DHPR DEFICIENCY" EXACT [] synonym: "QDPR DEFICIENCY" EXACT [] synonym: "QUINOID DIHYDROPTERIDINE REDUCTASE DEFICIENCY" EXACT [] synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT [] xref: MIM:261630 xref: NCI:C138173 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia is_a: DOID:9281 ! phenylketonuria created_by: mtutaj creation_date: 2022-08-29T13:19:11Z [Term] id: DOID:0081131 name: BH4-deficient hyperphenylalaninemia D alt_id: DOID:9000344 alt_id: MIM:264070 def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by mild transient hyperphenylalaninemia often detected by newborn screening and that has_material_basis_in homozygous or compound heterozygous mutation in the PCBD gene, which encodes an enzyme involved in the salvage pathway for BH4, on chromosome 10q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24204001/ "DO"] synonym: "CADH DEFICIENCY" EXACT [] synonym: "HPABH4D" EXACT [] synonym: "HYPERPHENYLALANINEMIA, TETRAHYDROBIOPTERIN-DEFICIENT, DUE TO PTERIN-4-ALPHA-CARBINOLAMINE DEHYDRATASE DEFICIENCY" EXACT [] synonym: "Hyperphenylalaninemia with Primapterinuria" EXACT [] synonym: "PCBD DEFICIENCY" EXACT [] synonym: "tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia (HPA) due to pterin-4-alpha-carbinolamine dehydratase deficiency" EXACT [] xref: GARD:2843 xref: MESH:C538382 xref: ORDO:1578 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia is_a: DOID:9281 ! phenylketonuria created_by: mtutaj creation_date: 2022-08-29T13:20:21Z [Term] id: DOID:0081132 name: tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia def: "An amino acid metabolic disorder that are characterized phenotypically by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits and that has_material_basis_in autosomal recessive mutations in the genes encoding enzymes involved in the synthesis or regeneration of BH4. (DO)" [https://medlineplus.gov/genetics/condition/tetrahydrobiopterin-deficiency/ "DO", https://pubmed.ncbi.nlm.nih.gov/11388593/ "DO"] xref: GARD:7751 xref: ORDO:238583 is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2022-08-29T13:20:47Z [Term] id: DOID:0081133 name: 3-methylglutaconic aciduria type 7a def: "A 3-methylglutaconic aciduria that is characterized primarily by increased levels of 3-methylglutaconic acid (3-MGA) associated with variable neurologic deficits and neutropenia and that has_material_basis_in heterozygous dominant-negative mutation in the CLPB gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34140661/ "DO"] synonym: "3-methylglutaconic aciduria, type VIIA" EXACT [] synonym: "3-methylglutaconic aciduria type VIIA, autosomal dominant" EXACT [] synonym: "MGCA7A" EXACT [] xref: MIM:619835 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0110003 ! 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia created_by: mtutaj creation_date: 2022-08-29T13:26:56Z [Term] id: DOID:0081134 name: 3-methylglutaconic aciduria type 7b def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous loss-of-function mutations in the CLPB gene on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25597510/ "DO", https://pubmed.ncbi.nlm.nih.gov/25597511/ "DO"] synonym: "3-methylglutaconic aciduria, type VIIB" EXACT [] synonym: "3-methylglutaconic aciduria, type VIIB, autosomal recessive" EXACT [] synonym: "MGCA7B" EXACT [] xref: MIM:616271 is_a: DOID:0110003 ! 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia created_by: mtutaj creation_date: 2022-08-29T13:32:10Z [Term] id: DOID:0081135 name: agammaglobulinemia 2 alt_id: DOID:9001787 def: "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the immunoglobulin lambda-like-1 gene (IGLL1) on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"] synonym: "Agammaglobulinemia 2, Autosomal Recessive" EXACT [] synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO IGLL1 DEFECT" EXACT [] synonym: "AGM2" EXACT [] xref: MIM:613500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:35:38Z [Term] id: DOID:0081136 name: agammaglobulinemia 1 alt_id: DOID:9001819 def: "An agammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the mu heavy-chain gene (IGHM) on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"] synonym: "Agammaglobulinemia 1, Autosomal Recessive" EXACT [] synonym: "AGM1" EXACT [] synonym: "autosomal recessive agammaglobulinemia due to IGHM defect" EXACT [] xref: MIM:601495 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:37:37Z [Term] id: DOID:0081137 name: agammaglobulinemia 3 alt_id: DOID:9009084 def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79A gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"] synonym: "Agammaglobulinemia 3, Autosomal Recessive" EXACT [] synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79A DEFECT" EXACT [] synonym: "AGM3" EXACT [] xref: MIM:613501 xref: MONDO:0013288 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:38:59Z [Term] id: DOID:0081138 name: agammaglobulinemia 6 alt_id: DOID:9001357 def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the CD79B gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"] synonym: "Agammaglobulinemia 6, Autosomal Recessive" EXACT [] synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO CD79B DEFECT" EXACT [] synonym: "AGM6" EXACT [] xref: MIM:612692 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:40:39Z [Term] id: DOID:0081139 name: agammaglobulinemia 7 alt_id: DOID:9008850 def: "An agammaglobulinemia that has_material_basis_in homozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"] synonym: "Agammaglobulinemia 7, Autosomal Recessive" EXACT [] synonym: "AGAMMAGLOBULINEMIA, AUTOSOMAL RECESSIVE, DUE TO PIK3R1 DEFECT" EXACT [] synonym: "AGM7" EXACT [] xref: MIM:615214 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:42:10Z [Term] id: DOID:0081140 name: agammaglobulinemia 8A def: "An agammaglobulinemia that has_material_basis_in heterozygous dominant-negative mutation in the TCF3 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"] synonym: "agammaglobulinemia 8A, autosomal dominant" EXACT [] synonym: "agammaglobulinemia 8, autosomal dominant" EXACT [] synonym: "agammaglobulinemia, autosomal dominant, due to TCF3 defect" EXACT [] synonym: "AGM8A" EXACT [] xref: MIM:616941 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008152 ! Agammaglobulinemia 8 created_by: mtutaj creation_date: 2022-08-29T13:45:04Z [Term] id: DOID:0081141 name: agammaglobulinemia 9 alt_id: DOID:9008336 def: "An agammaglobulinemia that is characterized by recurrent bacterial infections associated with agammaglobulinemia and absence of circulating B cells and that has_material_basis_in homozygous or compound heterozygous mutation in the SLC39A7 gene on chromosome 6p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"] synonym: "Agammaglobulinemia 9, Autosomal Recessive" EXACT [] synonym: "agammaglobulinemia, autosomal recessive, due to SLC39A7 defect" EXACT [] synonym: "AGM9" EXACT [] xref: MIM:619693 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:48:09Z [Term] id: DOID:0081142 name: agammaglobulinemia 10 alt_id: DOID:9001108 def: "An agammaglobulinemia that is characterized by early-childhood onset of recurrent viral and bacterial infections affecting various organ systems, particularly the sinopulmonary system. and that has_material_basis_in heterozygous mutation in the SPI1 gene on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"] synonym: "Agammaglobulinemia 10, Autosomal Dominant" EXACT [] synonym: "agammaglobulinemia, autosomal dominant, due to SPI1 defect" EXACT [] synonym: "AGM10" EXACT [] xref: MIM:619707 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2583 ! agammaglobulinemia created_by: mtutaj creation_date: 2022-08-29T13:49:49Z [Term] id: DOID:0081143 name: agammaglobulinemia 8B def: "An agammaglobulinemia that is characterized by onset of recurrent infections in early childhood and that has_material_basis_in homozygous loss-of-function mutation in the TCF3 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32384040/ "DO"] synonym: "agammaglobulinemia 8B, autosomal recessive" EXACT [] synonym: "agammaglobulinemia, autosomal recessive, due to TCF3 defect" EXACT [] synonym: "AGM8B" EXACT [] xref: MIM:619824 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008152 ! Agammaglobulinemia 8 created_by: mtutaj creation_date: 2022-08-29T13:51:24Z [Term] id: DOID:0081144 name: common variable immunodeficiency 1 alt_id: DOID:9002425 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the ICOS gene on chromosome 2q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19426217/ "DO"] synonym: "ANTIBODY DEFICIENCY DUE TO ICOS DEFECT" EXACT [] synonym: "CVID1" EXACT [] xref: MIM:607594 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:54:26Z [Term] id: DOID:0081145 name: common variable immunodeficiency 2 alt_id: DOID:9007351 def: "A common variable immunodeficiency that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TNFRSF13B gene, which encodes the transmembrane activator and CAML interactor (TACI), on chromosome 17p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16007087/ "DO"] synonym: "ANTIBODY DEFICIENCY DUE TO TACI DEFECT" EXACT [] synonym: "CVID2" EXACT [] synonym: "HYPOGAMMAGLOBULINEMIA DUE TO TACI DEFICIENCY" EXACT [] xref: MIM:240500 xref: MONDO:0009413 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:56:38Z [Term] id: DOID:0081146 name: common variable immunodeficiency 3 alt_id: DOID:9002442 def: "A common variable immunodeficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CD19 gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16672701/ "DO"] synonym: "ANTIBODY DEFICIENCY DUE TO CD19 DEFECT" EXACT [] synonym: "CVID3" EXACT [] xref: MIM:613493 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:57:45Z [Term] id: DOID:0081147 name: common variable immunodeficiency 4 alt_id: DOID:9001886 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the BAFFR gene (TNFRSF13C), which encodes the B-cell activating factor receptor, on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19666484/ "DO"] synonym: "ANTIBODY DEFICIENCY DUE TO BAFFR DEFECT" EXACT [] synonym: "CVID4" EXACT [] xref: MIM:613494 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:58:51Z [Term] id: DOID:0081148 name: common variable immunodeficiency 5 alt_id: DOID:9001688 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20038800/ "DO"] synonym: "antibody deficiency due to CD20 defect" EXACT [] synonym: "CVID5" EXACT [] xref: MIM:613495 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T13:59:54Z [Term] id: DOID:0081149 name: common variable immunodeficiency 6 alt_id: DOID:9002131 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD81 gene on chromosome 11p. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20237408/ "DO"] synonym: "ANTIBODY DEFICIENCY DUE TO CD81 DEFECT" EXACT [] synonym: "CVID6" EXACT [] xref: MIM:613496 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:01:01Z [Term] id: DOID:0081150 name: common variable immunodeficiency 7 alt_id: DOID:9008846 def: "A common variable immunodeficiency that has_material_basis_in compound heterozygous mutation in the CD21 gene (CR2) on chromosome 1q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22035880/ "DO"] synonym: "CR2-related condition" BROAD [] synonym: "CVID7" EXACT [] xref: MIM:614699 xref: MONDO:0013862 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:02:03Z [Term] id: DOID:0081151 name: common variable immunodeficiency 8 alt_id: DOID:9003811 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the LRBA gene on chromosome 4q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25468195/ "DO"] synonym: "common variable immunodeficiency-8 (CVID8) with autoimmunity" EXACT [] synonym: "Common Variable Immunodeficiency 8, with Autoimmunity" EXACT [] synonym: "CVID8" EXACT [] xref: MIM:614700 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:03:20Z [Term] id: DOID:0081152 name: common variable immunodeficiency 10 alt_id: DOID:9000689 def: "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the NFKB2 gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24140114/ "DO"] synonym: "common variable immunodeficiency with central adrenal insufficiency" EXACT [] synonym: "CVID10" EXACT [] synonym: "DAVID" EXACT [] synonym: "deficit in anterior pituitary function and variable immunodeficiency" EXACT [] xref: MIM:615577 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:04:28Z [Term] id: DOID:0081153 name: common variable immunodeficiency 11 alt_id: DOID:9005947 def: "A common variable immunodeficiency that has_material_basis_in homozygous mutation in the IL21 gene on chromosome 4q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24746753/ "DO"] synonym: "CVID11" EXACT [] xref: MIM:615767 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:05:42Z [Term] id: DOID:0081154 name: common variable immunodeficiency 12 alt_id: DOID:9008356 def: "A common variable immunodeficiency that is characterized by recurrent infections and associated with hypogammaglobulinemia and that has_material_basis_in heterozygous mutation in the NFKB1 gene on chromosome 4q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32278790/ "DO"] synonym: "CVID12" EXACT [] synonym: "NFKB1 deficiency" EXACT [] synonym: "NFKB1-RELATED CONDITION" EXACT [] xref: MIM:616576 is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:06:36Z [Term] id: DOID:0081155 name: common variable immunodeficiency 13 alt_id: DOID:9008141 def: "A common variable immunodeficiency that is characterized by recurrent bacterial infections, mainly affecting the respiratory tract, and associated with hypogammaglobulinemia and decreased numbers of B cells and that has_material_basis_in heterozygous mutation in the IKZF1 gene on chromosome 7p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26981933/ "DO"] synonym: "CVID13" EXACT [] synonym: "IKZF1-RELATED CONDITION" EXACT [] xref: MIM:616873 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:07:48Z [Term] id: DOID:0081156 name: common variable immunodeficiency 14 alt_id: DOID:9009071 def: "A common variable immunodeficiency that has_material_basis_in heterozygous mutation in the IRF2BP2 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27016798/ "DO"] synonym: "CVID14" EXACT [] synonym: "IRF2BP2-RELATED CONDITION" EXACT [] xref: MIM:617765 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12177 ! common variable immunodeficiency created_by: mtutaj creation_date: 2022-08-29T14:09:01Z [Term] id: DOID:0081157 name: dilated cardiomyopathy 1LL alt_id: DOID:9000215 alt_id: DOID:9008472 def: "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the PRDM16 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23768516/ "DO"] synonym: "CMD1LL" EXACT [] synonym: "Left Ventricular Noncompaction 8" RELATED [] synonym: "LVNC8" RELATED [] synonym: "PRDM16-RELATED CONDITION" EXACT [] synonym: "PRDM16-RELATED CONGENITAL HEART DISEASE" EXACT [] xref: MIM:615373 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000497 ! Dilated Cardiomyopathy with Left Ventricular Noncompaction created_by: mtutaj creation_date: 2022-08-29T14:11:15Z [Term] id: DOID:0081158 name: dilated cardiomyopathy 1MM alt_id: DOID:9008209 def: "A dilated cardiomyopathy that has_material_basis_in heterozygous mutation in the MYBPC3 gene on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21551322/ "DO"] synonym: "CMD1MM" EXACT [] synonym: "Left Ventricular Noncompaction 10" EXACT [] synonym: "LVNC10" EXACT [] synonym: "MYBPC3-RELATED CONDITION" BROAD [] xref: MIM:615396 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000497 ! Dilated Cardiomyopathy with Left Ventricular Noncompaction created_by: mtutaj creation_date: 2022-08-29T14:15:51Z [Term] id: DOID:0081159 name: dilated cardiomyopathy 2C alt_id: DOID:9006747 def: "A dilated cardiomyopathy that is characterized by dilated cardiomyopathy of variable severity, with age of onset ranging from 2 to 20 years and that has_material_basis_in homozygous or compound heterozygous mutation in the PPCS gene on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29754768/ "DO"] synonym: "CMD2C" EXACT [] xref: MIM:618189 xref: NCI:C186785 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:21:35Z [Term] id: DOID:0081160 name: dilated cardiomyopathy 2D alt_id: DOID:9003609 def: "A dilated cardiomyopathy that is characterized by neonatal onset of severe cardiomyopathy, with rapid progression to cardiac decompensation and death unless the patient undergoes heart transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the RPL3L gene on chromosome 16p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32514796/ "DO"] synonym: "CMD2D" EXACT [] xref: MIM:619371 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:23:17Z [Term] id: DOID:0081161 name: dilated cardiomyopathy 2E alt_id: DOID:9006126 def: "A dilated cardiomyopathy that is characterized by neonatal or early childhood onset of dilated cardiomyopathy, with rapid progression to cardiac failure and death unless patients undergo cardiac transplantation and that has_material_basis_in homozygous or compound heterozygous mutation in the JPH2 gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30384889/ "DO", https://pubmed.ncbi.nlm.nih.gov/31227780/ "DO"] synonym: "CMD2E" EXACT [] synonym: "JPH2-RELATED CONDITION" BROAD [] xref: MIM:619492 xref: MONDO:0030366 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:24:29Z [Term] id: DOID:0081162 name: dilated cardiomyopathy 2F alt_id: DOID:9000042 def: "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35044787/ "DO"] synonym: "CMD2F" EXACT [] xref: MIM:619747 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:25:26Z [Term] id: DOID:0081163 name: dilated cardiomyopathy 2G alt_id: DOID:9002218 def: "A dilated cardiomyopathy that is characterized by early-onset severe dilated cardiomyopathy that progresses rapidly to heart failure in the neonatal period without evidence of intervening hypertrophy and that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD2 gene on chromosome 7q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31517052/ "DO"] synonym: "CMD2G" EXACT [] xref: MIM:619897 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2022-08-29T14:26:39Z [Term] id: DOID:0081168 name: HMG-CoA synthase 2 deficiency alt_id: DOID:9003547 alt_id: MIM:605911 def: "An amino acid metabolic disorder that is characterized clinically by episodes of decompensation (often associated with gastroenteritis or fasting) that present with vomiting, lethargy, hepatomegaly, non ketotic hypoglycemia and, in rare cases, coma and that has_material_basis_in mutation in the HMGCS2 gene on chromosome 1p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16601895/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC5979369/ "DO"] synonym: "3-Hydroxy-3-Methylglutaryl-CoA Synthase 2 Deficiency" EXACT [] synonym: "HMGCS2D" EXACT [] synonym: "HMGCS2 Deficiency" EXACT [] synonym: "MITOCHONDRIAL 3-HYDROXY-3-METHYLGLUTARYL-COA SYNTHASE DEFICIENCY" EXACT [] synonym: "Mitochondrial HMG-CoA Synthase Deficiency" EXACT [] xref: GARD:2712 xref: MESH:C567784 xref: ORDO:35701 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9993 ! hypoglycemia created_by: mtutaj creation_date: 2022-08-29T14:34:21Z [Term] id: DOID:0081169 name: Leber congenital amaurosis 19 alt_id: DOID:9008659 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the USP45 gene on chromosome 6q16. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3057356/ "DO"] synonym: "LCA19" EXACT [] xref: MIM:618513 is_a: DOID:14791 ! Leber congenital amaurosis created_by: mtutaj creation_date: 2022-08-29T14:37:11Z [Term] id: DOID:0081175 name: short stature, hearing loss, retinitis pigmentosa, and distinctive facies alt_id: DOID:9009102 def: "A syndrome that is characterized by short stature, brachydactyly, dysmorphic facial features, hearing loss, and visual impairment and that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC2 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26843489/ "DO", https://pubmed.ncbi.nlm.nih.gov/34162742/ "DO"] synonym: "SHRF" EXACT [] xref: MIM:617763 xref: ORDO:494439 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2022-08-29T14:39:09Z [Term] id: DOID:0081176 name: hypotonia, ataxia, and delayed development syndrome alt_id: DOID:9003925 def: "A syndrome that is characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia and that has_material_basis_in heterozygous mutation in the EBF3 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28017370/ "DO", https://pubmed.ncbi.nlm.nih.gov/34367240/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK570204/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9092656/ "DO"] synonym: "EBF3-RELATED DISORDER" EXACT [] synonym: "HADDS" EXACT [] xref: MIM:617330 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9004866 ! Ataxia is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-08-29T14:40:58Z [Term] id: DOID:0081177 name: autosomal recessive intellectual developmental disorder 1 alt_id: DOID:9008608 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding neurotrypsin (PRSS12) on chromosome 4q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12459588/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 1" EXACT [] synonym: "mental retardation, autosomal recessive 1" EXACT [] synonym: "MRT1" EXACT [] xref: MESH:C565406 xref: MIM:249500 xref: MONDO:0081177 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:42:55Z [Term] id: DOID:0081178 name: autosomal recessive intellectual developmental disorder 2 alt_id: DOID:9008771 alt_id: MIM:607417 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the gene encoding cereblon (CRBN) on chromosome 3p26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28143899/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 2" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 2A" EXACT [] synonym: "MRT2" EXACT [] synonym: "MRT2A" EXACT [] xref: MESH:C564404 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:45:28Z [Term] id: DOID:0081179 name: autosomal recessive intellectual developmental disorder 3 alt_id: DOID:9003376 alt_id: MIM:608443 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CC2D1A gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16033914/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 3" EXACT [] synonym: "mental retardation, autosomal recessive 3" EXACT [] synonym: "MRT3" EXACT [] xref: MESH:C563929 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:46:38Z [Term] id: DOID:0081180 name: autosomal recessive intellectual developmental disorder 12 alt_id: DOID:9007060 alt_id: MIM:611090 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ST3GAL3 gene on chromosome 1p34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32666583/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 12" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 12" EXACT [] synonym: "MRT12" EXACT [] xref: MESH:C567019 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:48:08Z [Term] id: DOID:0081181 name: autosomal recessive intellectual developmental disorder 5 alt_id: DOID:9000480 alt_id: MIM:611091 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NSUN2 gene on chromosome 5p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22541559/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 5" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 5" EXACT [] synonym: "MRT5" EXACT [] xref: MESH:C567018 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:49:21Z [Term] id: DOID:0081182 name: autosomal recessive intellectual developmental disorder 6 alt_id: DOID:9001405 alt_id: MIM:611092 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ionotropic glutamate receptor-6 gene (GRIK2) on chromosome 6q16. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25039795/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 6" EXACT [] synonym: "MRT6" EXACT [] xref: MESH:C567017 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:50:24Z [Term] id: DOID:0081183 name: autosomal recessive intellectual developmental disorder 7 alt_id: DOID:9008725 alt_id: MIM:611093 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TUSC3 gene on chromosome 8p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27148795/ "DO"] synonym: "intellectual developmental disorder 22" EXACT [] synonym: "mental retardation, autosomal recessive 22" EXACT [] synonym: "mental retardation, autosomal recessive 7" EXACT [] synonym: "MRT22" EXACT [] synonym: "MRT7" EXACT [] xref: MESH:C567016 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:51:22Z [Term] id: DOID:0081184 name: autosomal recessive intellectual developmental disorder 9/26 alt_id: DOID:9007034 alt_id: MIM:611095 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 9.1-Mb region on proximal chromosome 14q between SNPs rs10132585 and rs1278951, termed the MRT9 locus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"] synonym: "intellectual developmental disorder, autosomal recessive 26" EXACT [] synonym: "Intellectual Developmental Disorder, Autosomal Recessive 9" EXACT [] synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 26" EXACT [] synonym: "mental retardation, autosomal recessive 9" EXACT [] synonym: "MRT26" EXACT [] synonym: "MRT9" EXACT [] xref: MESH:C567014 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:52:46Z [Term] id: DOID:0081185 name: autosomal recessive intellectual developmental disorder 10/20 alt_id: DOID:9001021 alt_id: MIM:611096 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 21.7-Mb region in the pericentromeric region of chromosome 16 between SNPs rs7197568 and rs7197227, termed the MRT20 locus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"] synonym: "Intellectual Developmental Disorder, Autosomal Recessive 10" EXACT [] synonym: "intellectual developmental disorder, autosomal recessive 20" EXACT [] synonym: "mental retardation, autosomal recessive 10" EXACT [] synonym: "mental retardation, autosomal recessive 20" EXACT [] synonym: "MRT10" EXACT [] synonym: "MRT20" EXACT [] xref: MESH:C567013 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:54:41Z [Term] id: DOID:0081186 name: autosomal recessive intellectual developmental disorder 11 alt_id: DOID:9004731 alt_id: MIM:611097 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus on chromosome 19q, termed MRT11. Haplotype analysis delineated a 5.4-Mb candidate region between SNPs rs2109075 and rs8101149. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21063731/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 11" EXACT [] synonym: "MRT11" EXACT [] xref: MESH:C567012 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:55:54Z [Term] id: DOID:0081187 name: autosomal recessive intellectual developmental disorder 4 alt_id: DOID:9004517 alt_id: MIM:611107 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a candidate locus, termed MRT4, on chromosome 1p21.1-p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17309643/ "DO"] synonym: "mental retardation, autosomal recessive 4" EXACT [] synonym: "MRT4" EXACT [] xref: MESH:C567008 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:56:55Z [Term] id: DOID:0081188 name: autosomal recessive intellectual developmental disorder 14 alt_id: DOID:9006531 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TECR gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18446860/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 14" EXACT [] synonym: "mental retardation, autosomal recessive 14" EXACT [] synonym: "MRT14" EXACT [] xref: MIM:614020 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:58:02Z [Term] id: DOID:0081189 name: autosomal recessive intellectual developmental disorder 16 alt_id: DOID:9006389 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in a 23.52-Mb region of homozygosity on chromosome 9p23-p13.3 between rs10738277 and rs12376565, designated MRT16. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20345473/ "DO"] synonym: "mental retardation, autosomal recessive 16" EXACT [] synonym: "MRT16" EXACT [] xref: MIM:614208 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T14:59:05Z [Term] id: DOID:0081190 name: autosomal recessive intellectual developmental disorder 18 alt_id: DOID:9003792 def: "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development with or without epilepsy and that has_material_basis_in homozygous or compound heterozygous mutation in the MED23 gene on chromosome 6q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25845469/ "DO"] synonym: "Intellectual developmental disorder, autosomal recessive 18, with or without epilepsy" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 18" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 18" EXACT [] synonym: "MRT18" EXACT [] xref: MIM:614249 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:00:36Z [Term] id: DOID:0081191 name: autosomal recessive intellectual developmental disorder 31 alt_id: DOID:9000969 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 10.5-Mb region on proximal chromosome 4q between SNPs rs11944876 and rs6551838. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21063731/ "DO"] synonym: "mental retardation, autosomal recessive 31" EXACT [] synonym: "MRT31" EXACT [] xref: MIM:614329 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:01:33Z [Term] id: DOID:0081192 name: autosomal recessive intellectual developmental disorder 29 alt_id: DOID:9007545 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a locus on distal chromosome 4q. The interval spanned 52.2 Mb between SNPs rs1426138 and rs2055392. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21063731/ "DO"] synonym: "mental retardation, autosomal recessive 29" EXACT [] synonym: "MRT29" EXACT [] xref: MIM:614333 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:02:30Z [Term] id: DOID:0081193 name: autosomal recessive intellectual developmental disorder 27 alt_id: DOID:9004788 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINS gene (LINS1) on chromosome 15q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23773660/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 27" EXACT [] synonym: "MRT27" EXACT [] xref: MIM:614340 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:04:08Z [Term] id: DOID:0081194 name: autosomal recessive intellectual developmental disorder 33 alt_id: DOID:9001853 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to chromosome 17p in an interval spanning 5.1 Mb between SNPs rs1367950 and rs1826925. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21063731/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 33" EXACT [] synonym: "MRT33" EXACT [] xref: MIM:614341 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:05:17Z [Term] id: DOID:0081195 name: autosomal recessive intellectual developmental disorder 30 alt_id: DOID:9005012 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 22-Mb region on proximal chromosome 6q between SNPs rs4612125 and rs285651. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"] synonym: "mental retardation, autosomal recessive 30" EXACT [] synonym: "MRT30" EXACT [] xref: MIM:614342 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:06:09Z [Term] id: DOID:0081196 name: autosomal recessive intellectual developmental disorder 23 alt_id: DOID:9003500 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 45.6-Mb interval in the pericentromeric region of chromosome 11 between SNPs rs604518 and rs10899421. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"] synonym: "mental retardation, autosomal recessive 23" EXACT [] synonym: "MRT23" EXACT [] xref: MIM:614344 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:07:08Z [Term] id: DOID:0081197 name: autosomal recessive intellectual developmental disorder 24 alt_id: DOID:9006322 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 16.4-Mb region on chromosome 6p between SNPs rs651733 and rs1508668. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"] synonym: "mental retardation, autosomal recessive 24" EXACT [] synonym: "MRT24" EXACT [] xref: MIM:614345 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:07:57Z [Term] id: DOID:0081198 name: autosomal recessive intellectual developmental disorder 25 alt_id: DOID:9002478 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 19.5-Mb region on chromosome 12q between SNPs rs4760658 and rs1882033. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"] synonym: "mental retardation, autosomal recessive 25" EXACT [] synonym: "MRT25" EXACT [] xref: MIM:614346 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:09:08Z [Term] id: DOID:0081199 name: autosomal recessive intellectual developmental disorder 28 alt_id: DOID:9006558 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 4.4-Mb region on chromosome 6q between SNPs rs6935718 and rs388609. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21629298/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 28" EXACT [] synonym: "MRT28" EXACT [] xref: MIM:614347 xref: MONDO:0032665 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:09:58Z [Term] id: DOID:0081200 name: autosomal recessive intellectual developmental disorder 34 alt_id: DOID:9003186 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the CRADD gene on chromosome 12q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27773430/ "DO"] synonym: "autosomal recessive intellectual developmental disorder 34 with variant lissencephaly" EXACT [] synonym: "autosomal recessive mental retardation 34 with variant lissencephaly" EXACT [] synonym: "MRT34" EXACT [] xref: MIM:614499 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:26:42Z [Term] id: DOID:0081201 name: autosomal recessive intellectual developmental disorder 35 alt_id: DOID:9002452 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in linkage to a 12.2-Mb region on chromosome 17q21.31-q22 between SNPs rs4792947 and rs11079258. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20950399/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 35" EXACT [] synonym: "MRT35" EXACT [] xref: MIM:615162 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:29:51Z [Term] id: DOID:0081202 name: autosomal recessive intellectual developmental disorder 37 alt_id: DOID:9006993 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ANK3 gene on chromosome 10q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29302074/ "DO"] synonym: "ANK3-RELATED CONDITION" EXACT [] synonym: "INTELLECTUAL DISABILITY-HYPOTONIA-SPASTICITY-SLEEP DISORDER SYNDROME" EXACT [] synonym: "mental retardation, autosomal recessive 37" EXACT [] synonym: "MRT37" EXACT [] xref: MIM:615493 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:30:49Z [Term] id: DOID:0081203 name: autosomal recessive intellectual developmental disorder 38 alt_id: DOID:9007435 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HERC2 gene on chromosome 15q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23243086/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 38" EXACT [] synonym: "MRT38" EXACT [] xref: MIM:615516 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:32:15Z [Term] id: DOID:0081204 name: autosomal recessive intellectual developmental disorder 39 alt_id: DOID:9007449 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TTI2 gene on chromosome 8p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23956177/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 39" EXACT [] synonym: "MRT39" EXACT [] synonym: "SEVERE INTELLECTUAL DISABILITY-SHORT STATURE-BEHAVIORAL ABNORMALITIES-FACIAL DYSMORPHISM SYNDROME" EXACT [] xref: MIM:615541 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:33:08Z [Term] id: DOID:0081205 name: autosomal recessive intellectual developmental disorder 40 alt_id: DOID:9006330 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF2 gene on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34474177/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 40" EXACT [] synonym: "MRT40" EXACT [] synonym: "NEDFCF" EXACT [] synonym: "neurodevelopmental disorder with feeding difficulties, thin corpus callosum, and foot deformity" EXACT [] xref: MIM:615599 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:34:01Z [Term] id: DOID:0081206 name: autosomal recessive intellectual developmental disorder 41 alt_id: DOID:9007613 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KPTN gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25847626/ "DO"] synonym: "MACROCEPHALY-DEVELOPMENTAL DELAY SYNDROME" EXACT [] synonym: "mental retardation, autosomal recessive 41" EXACT [] synonym: "MRT41" EXACT [] xref: MIM:615637 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:34:53Z [Term] id: DOID:0081207 name: autosomal recessive intellectual developmental disorder 43 alt_id: DOID:9006908 def: "An autosomal recessive intellectual developmental disorder that is characterized by impaired intellectual development, poor language skills, short stature, and dysmorphic features and that has_material_basis_in homozygous mutation in the KIAA1033 gene (WASHC4) on chromosome 12q23. Some patients may have significant motor delays. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34599609/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 43" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 43" EXACT [] synonym: "MRT43" EXACT [] xref: MIM:615817 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:35:54Z [Term] id: DOID:0081208 name: autosomal recessive intellectual developmental disorder 44 alt_id: DOID:9006200 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the METTL23 gene on chromosome 17q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32439618/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 44" EXACT [] synonym: "mental retardation, autosomal recessive 44" EXACT [] synonym: "MRT44" EXACT [] xref: MIM:615942 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:36:43Z [Term] id: DOID:0081209 name: autosomal recessive intellectual developmental disorder 45 alt_id: DOID:9000560 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FBXO31 gene on chromosome 16q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24623383/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 45" EXACT [] synonym: "mental retardation, autosomal recessive 45" EXACT [] synonym: "MRT45" EXACT [] xref: MIM:615979 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:37:39Z [Term] id: DOID:0081210 name: autosomal recessive intellectual developmental disorder 46 alt_id: DOID:9004558 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25125150/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 46" EXACT [] synonym: "mental retardation, autosomal recessive 46" EXACT [] synonym: "MRT46" EXACT [] xref: MIM:616116 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:38:31Z [Term] id: DOID:0081211 name: autosomal recessive intellectual developmental disorder 47 alt_id: DOID:9008226 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the FMN2 gene on chromosome 1q43. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25480035/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 47" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 47" EXACT [] synonym: "MRT47" EXACT [] xref: MIM:616193 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:39:18Z [Term] id: DOID:0081212 name: autosomal recessive intellectual developmental disorder 48 alt_id: DOID:9007512 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the SLC6A17 gene on chromosome 1p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25704603/ "DO"] synonym: "mental retardation, autosomal recessive 48" EXACT [] synonym: "MRT48" EXACT [] synonym: "PROGRESSIVE ESSENTIAL TREMOR-SPEECH IMPAIRMENT-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY-ABNORMAL BEHAVIOR SYNDROME" EXACT [] xref: MIM:616269 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:40:12Z [Term] id: DOID:0081213 name: autosomal recessive intellectual developmental disorder 50 alt_id: DOID:9001618 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the EDC3 gene on chromosome 15q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25701870/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 50" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 50" EXACT [] synonym: "MRT50" EXACT [] xref: MIM:616460 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:41:05Z [Term] id: DOID:0081214 name: autosomal recessive intellectual developmental disorder 51 alt_id: DOID:9000167 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the HNMT gene on chromosome 2q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26206890/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 51" EXACT [] synonym: "MRT51" EXACT [] xref: MIM:616739 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:42:03Z [Term] id: DOID:0081215 name: autosomal recessive intellectual developmental disorder 52 alt_id: DOID:9005239 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LMAN2L gene on chromosome 2q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26566883/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 52" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 52" EXACT [] synonym: "MRT52" EXACT [] xref: MIM:616887 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:42:53Z [Term] id: DOID:0081216 name: autosomal recessive intellectual developmental disorder 54 alt_id: DOID:9004737 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27106596/ "DO"] synonym: "intellectual developmental disorder 54" EXACT [] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 54" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 54" EXACT [] synonym: "MRT54" EXACT [] xref: MIM:617028 xref: MONDO:0014876 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:43:43Z [Term] id: DOID:0081217 name: autosomal recessive intellectual developmental disorder 56 alt_id: DOID:9004639 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZC3H14 gene on chromosome 14q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21734151/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 56" EXACT [] synonym: "MRT56" EXACT [] xref: MIM:617125 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:44:58Z [Term] id: DOID:0081218 name: autosomal recessive intellectual developmental disorder 74 def: "An autosomal recessive intellectual developmental disorder that is characterized by intellectual impairment, macrocephaly, and dysmorphic features and that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13. Epilepsy with eyelid myoclonus has also been reported. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33161245/ "DO"] synonym: "intellectual developmental disorder, autosomal recessive 74" EXACT [] synonym: "MRT74" EXACT [] xref: MIM:617169 xref: MONDO:0014951 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:45:51Z [Term] id: DOID:0081219 name: autosomal recessive intellectual developmental disorder 57 alt_id: DOID:9003051 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the MBOAT7 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27616480/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 57" EXACT [] synonym: "MRT57" EXACT [] xref: MIM:617188 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:49:20Z [Term] id: DOID:0081220 name: autosomal recessive intellectual developmental disorder 58 alt_id: DOID:9000513 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33976153/ "DO"] synonym: "ELP2-RELATED DISORDERS" EXACT [] synonym: "Mental Retardation, Autosomal Recessive 58" EXACT [] synonym: "MRT58" EXACT [] xref: MIM:617270 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:50:20Z [Term] id: DOID:0081221 name: autosomal recessive intellectual developmental disorder 59 alt_id: DOID:9007035 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the IMPA1 gene on chromosome 8q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26416544/ "DO"] synonym: "INTELLECTUAL DISABILITY, AUTOSOMAL RECESSIVE 59" EXACT [] synonym: "mental retardation, autosomal recessive 59" EXACT [] synonym: "MRT59" EXACT [] xref: MIM:617323 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:51:51Z [Term] id: DOID:0081222 name: autosomal recessive intellectual developmental disorder 60 alt_id: DOID:9005093 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TAF13 gene on chromosome 1p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28257693/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 60" EXACT [] synonym: "MRT60" EXACT [] xref: MIM:617432 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:52:40Z [Term] id: DOID:0081223 name: glycosylphosphatidylinositol biosynthesis defect 16 alt_id: DOID:9009068 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27694521/ "DO"] synonym: "Intellectual developmental disorder, autosomal recessive 62" EXACT [] synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 62" EXACT [] synonym: "MRT62" EXACT [] xref: MIM:617816 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2022-08-29T15:54:11Z [Term] id: DOID:0081224 name: autosomal recessive intellectual developmental disorder 63 alt_id: DOID:9009215 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the CAMK2A gene on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29784083/ "DO"] synonym: "mental retardation, autosomal recessive 63" EXACT [] synonym: "MRT63" EXACT [] xref: MIM:618095 xref: MONDO:0054861 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:56:08Z [Term] id: DOID:0081225 name: autosomal recessive intellectual developmental disorder 64 alt_id: DOID:9009216 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the LINGO1 gene on chromosome 15q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28837161/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 64" EXACT [] synonym: "MRT64" EXACT [] xref: MIM:618103 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:57:14Z [Term] id: DOID:0081226 name: autosomal recessive intellectual developmental disorder 65 alt_id: DOID:9004428 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the KDM5B gene on chromosome 1q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29276005/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 65" EXACT [] synonym: "MRT65" EXACT [] xref: MIM:618109 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:58:11Z [Term] id: DOID:0081227 name: autosomal recessive intellectual developmental disorder 66 alt_id: DOID:9009242 def: "An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27311568/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 66" EXACT [] synonym: "MRT66" EXACT [] xref: MIM:618221 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T15:59:06Z [Term] id: DOID:0081228 name: autosomal recessive intellectual developmental disorder 67 alt_id: DOID:9002440 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation or compound heterozygous mutation in the EIF3F gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30409806/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 67" EXACT [] synonym: "MRT67" EXACT [] xref: MIM:618295 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:00:11Z [Term] id: DOID:0081229 name: autosomal recessive intellectual developmental disorder 68 alt_id: DOID:9006641 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TRMT1 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30289604/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 68" EXACT [] synonym: "MRT68" EXACT [] xref: MIM:618302 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:01:04Z [Term] id: DOID:0081230 name: autosomal recessive intellectual developmental disorder 69 alt_id: DOID:9005345 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ZBTB11 gene on chromosome 3q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29893856/ "DO"] synonym: "mental retardation, autosomal recessive 69" EXACT [] synonym: "MRT69" EXACT [] synonym: "NEDMCB" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES, COGNITIVE DECLINE, AND BRAIN ABNORMALITIES" EXACT [] xref: MIM:618383 xref: MONDO:0032715 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:02:11Z [Term] id: DOID:0081231 name: autosomal recessive intellectual developmental disorder 70 alt_id: DOID:9009079 def: "An autosomal recessive intellectual developmental disorder that is characterized primarily by impaired intellectual developmen and that has_material_basis_in homozygous mutation in the RSRC1 gene on chromosome 3q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28640246/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 70" EXACT [] synonym: "MRT70" EXACT [] xref: MIM:618402 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:03:15Z [Term] id: DOID:0081232 name: autosomal recessive intellectual developmental disorder 71 alt_id: DOID:9000328 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the ALKBH8 gene on chromosome 11q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31079898/ "DO"] synonym: "autosomal recessive mental retardation 71" EXACT [] synonym: "MRT71" EXACT [] xref: EFO:0010280 xref: MIM:618504 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:04:15Z [Term] id: DOID:0081233 name: autosomal recessive intellectual developmental disorder 73 alt_id: DOID:9006469 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34230638/ "DO"] synonym: "MRT73" EXACT [] xref: MIM:619717 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2022-08-29T16:05:08Z [Term] id: DOID:0081234 name: autosomal recessive intellectual developmental disorder 75 alt_id: DOID:9001728 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay apparent from infancy or early childhood and moderate to profoundly impaired intellectual development and that has_material_basis_in homozygous mutation in the PIDD1 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34163010/ "DO"] synonym: "Intellectual Developmental Disorder, Autosomal Recessive 75, with Neuropsychiatric Features and Variant Lissencephaly" EXACT [] synonym: "MRT75" EXACT [] synonym: "PIDD1-ASSOCIATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "PIDD1 RELATED DISORDER" EXACT [] xref: MIM:619827 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:07:37Z [Term] id: DOID:0081235 name: autosomal recessive intellectual developmental disorder 76 alt_id: DOID:9000317 def: "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the GRIA1 gene on chromosome 5q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35675825/ "DO"] synonym: "Mental Retardation, Autosomal Recessive 76" EXACT [] synonym: "MRT76" EXACT [] xref: MIM:619931 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:08:47Z [Term] id: DOID:0081236 name: autosomal recessive intellectual developmental disorder 77 alt_id: DOID:9008047 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34196201/ "DO"] synonym: "MRT77" EXACT [] xref: MIM:619988 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2022-08-29T16:09:36Z [Term] id: DOID:0081237 name: acromesomelic dysplasia-3 alt_id: DOID:9005796 alt_id: MIM:609441 def: "An acromesomelic dysplasia that has_material_basis_in homozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26105076/ "DO"] synonym: "acromesomelic chondrodysplasia, with genital anomalies" EXACT [] synonym: "acromesomelic chondrodysplasia with or without genital anomalies" EXACT [] synonym: "acromesomelic dysplasia, Demirhan type" EXACT [] synonym: "AMD3" EXACT [] synonym: "AMDD" EXACT [] xref: MESH:C537913 is_a: DOID:0080049 ! acromesomelic dysplasia is_a: DOID:1100 ! ovarian disease is_a: DOID:9006294 ! Congenital Limb Deformities created_by: mtutaj creation_date: 2022-08-29T16:11:13Z [Term] id: DOID:0081238 name: acromesomelic dysplasia-4 alt_id: DOID:9000536 def: "An acromesomelic dysplasia that is characterized by disproportionate short stature due to mesomelic shortening of the limbs and that has_material_basis_in homozygous mutation in the PRKG2 gene on chromosome 4q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33106379/ "DO"] synonym: "AMD4" EXACT [] xref: MIM:619636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080049 ! acromesomelic dysplasia created_by: mtutaj creation_date: 2022-08-29T16:12:32Z [Term] id: DOID:0081239 name: injection anthrax def: "An anthrax disease that is characterized by infection at the injection site or deep under the skin or in the muscle where the drug was injected and is caused by heroin contaminated with anthrax spores. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29533547/ "DO", https://www.cdc.gov/anthrax/basics/types/index.html "DO"] synonym: "injectional anthrax" EXACT [] synonym: "injectional anthrax syndrome" EXACT [] is_a: DOID:7427 ! anthrax disease created_by: mtutaj creation_date: 2022-08-29T16:13:46Z [Term] id: DOID:0081240 name: peroxisome biogenesis disorder 1B def: "A peroxisome biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX1 gene on chromosome 7q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO", https://pubmed.ncbi.nlm.nih.gov/28523433/ "DO"] synonym: "PBD1B" EXACT [] xref: MIM:601539 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2022-09-30T10:20:32Z [Term] id: DOID:0081241 name: peroxisome biogenesis disorder 3B alt_id: DOID:9009157 def: "A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"] synonym: "PDB3B" EXACT [] synonym: "Peroxisomal Biogenesis Disorder 3B" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER TYPE 3B" EXACT [] xref: MIM:266510 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2022-09-30T12:45:13Z [Term] id: DOID:0081242 name: autoimmune interstitial lung, joint, and kidney disease alt_id: DOID:9007760 def: "A syndrome that is characterized by interstitial lung disease, inflammatory arthritis, and immune complex-mediated renal disease and that has_material_basis_in heterozygous mutation in the COPA gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25894502/ "DO", https://rarediseases.org/rare-diseases/copa-syndrome/ "DO"] synonym: "AILJK" EXACT [] synonym: "Autoimmune interstitial lung disease-arthritis syndrome" EXACT [] synonym: "COPA syndrome" EXACT [] xref: MIM:616414 xref: MONDO:0014629 xref: ORDO:444092 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3082 ! interstitial lung disease is_a: DOID:381 ! arthropathy is_a: DOID:417 ! autoimmune disease is_a: DOID:557 ! kidney disease is_a: DOID:848 ! arthritis created_by: mtutaj creation_date: 2022-09-30T12:50:11Z [Term] id: DOID:0081243 name: rhizomelic chondrodysplasia punctate type 4 alt_id: DOID:9001854 def: "A rhizomelic chondrodysplasia punctate that has_material_basis_in homozygous or compound heterozygous mutation in the FAR1 gene on chromosome 11p15, which is required for the conversion of fatty acyl-CoAs to fatty alcohols, causing reduction or complete loss of FAR1 activity result in peroxisomal FAR1 deficiency. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28523433/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9471318/ "DO"] synonym: "FAR1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "Peroxisomal Fatty Acyl-CoA Reductase 1 Disorder" EXACT [] synonym: "PFCRD" EXACT [] xref: MIM:616154 xref: ORDO:438178 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata is_a: DOID:3146 ! lipid metabolism disorder created_by: mtutaj creation_date: 2022-09-30T12:55:04Z [Term] id: DOID:0081244 name: pituitary blastoma def: "A pituitary cancer that is characterized by features of Cushing disease, with elevated blood ACTH levels and hypercortisolism arising within the fetal anterior pituitary and associated with DICER1 mutations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35291028/ "DO"] synonym: "pituitary gland blastoma" EXACT [] xref: ICDO:8273/3 xref: NCI:C155304 is_a: DOID:0070003 ! blastoma is_a: DOID:1785 ! pituitary cancer created_by: mtutaj creation_date: 2022-09-30T13:02:05Z [Term] id: DOID:0081245 name: cauda equina neuroendocrine tumor def: "A cauda equina neoplasm that is a slow-growing, well-differentiated neuroendocrine tumor arising from the cauda equina. (DO)" [https://radiopaedia.org/articles/spinal-neuroendocrine-tumour?lang=us "DO"] synonym: "Cauda equina neuroendocrine tumour" EXACT [] synonym: "Spinal neuroendocrine tumors" EXACT [] xref: ICDO:8693/3 xref: NCI:C5324 is_a: DOID:4847 ! cauda equina neoplasm created_by: mtutaj creation_date: 2022-09-30T13:08:49Z [Term] id: DOID:0081246 name: teratoma with somatic-type malignancy def: "A teratoma that is characterized by morphologic transformation to malignancy and an aggressive clinical course. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6874974/ "DO"] xref: EFO:1000563 xref: ICDO:9084/3 xref: NCI:C4289 is_a: DOID:3307 ! teratoma created_by: mtutaj creation_date: 2022-09-30T17:42:05Z [Term] id: DOID:0081247 name: dedifferentiated chondrosarcoma def: "A chondrosarcoma that is an aggressive morphologic variant of chondrosarcoma. It is composed of a low grade chondrosarcoma and a high grade non-cartilagenous sarcomatous component. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34734747/ "DO"] synonym: "DDC" EXACT [] xref: EFO:0000394 xref: ICDO:9243/3 xref: NCI:C6476 is_a: DOID:3371 ! chondrosarcoma created_by: mtutaj creation_date: 2022-09-30T17:45:23Z [Term] id: DOID:0081248 name: pineocytoma def: "An endocrine organ benign neoplasm arising from the pineal gland that is composed of small, uniform, mature cells resembling pineocytes with occasional large pineocytomatous rosettes. It may show a wide range of divergent phenotypes, including neuronal, glial, melanocytic, photoreceptor and mesenchymal differentiation. (DO)" [https://rarediseases.org/gard-rare-disease/pineocytoma/ "DO"] xref: EFO:1000476 xref: ICDO:9361/1 xref: NCI:C6966 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:9005957 ! Pinealoma created_by: mtutaj creation_date: 2022-09-30T20:24:21Z [Term] id: DOID:0081249 name: EWSR1-negative small round cell tumor def: "A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28346326/ "DO"] synonym: "EWSR1-Negative Small Blue Round Cell Tumor" EXACT [] xref: NCI:C165671 is_a: DOID:3098 ! small cell sarcoma created_by: mtutaj creation_date: 2022-09-30T21:01:23Z [Term] id: DOID:0081250 name: CIC-rearranged sarcoma alt_id: DOID:9007982 def: "An EWSERI-negative small round cell tumor that is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31288305/ "DO", https://pubmed.ncbi.nlm.nih.gov/32796172/ "DO", https://pubmed.ncbi.nlm.nih.gov/33680459/ "DO"] synonym: "Capicua transcriptional repressor (CIC)-rearranged sarcoma" EXACT [] synonym: "CIC-DUX SARCOMA" EXACT [] xref: ICDO:9367/3 xref: NCI:C120224 is_a: DOID:0081249 ! EWSR1-negative small round cell tumor created_by: mtutaj creation_date: 2022-09-30T21:08:09Z [Term] id: DOID:0081251 name: papillary tumor of the pineal region alt_id: DOID:9001675 def: "A pineal gland cancer that is characterized by the presence of neuroepithelial cells and a papillary architecture. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29691144/ "DO"] synonym: "Papillary tumour of the pineal region" EXACT [] synonym: "PTPR" EXACT [] xref: EFO:1000451 xref: ICDO:9395/3 xref: NCI:C92624 is_a: DOID:5032 ! pineal gland cancer is_a: DOID:9005957 ! Pinealoma created_by: mtutaj creation_date: 2022-09-30T21:11:16Z [Term] id: DOID:0081252 name: supratentorial ependymoma, ZFTA fusion-positive is_a: DOID:0080890 ! supratentorial ependymoma created_by: mtutaj creation_date: 2022-09-30T21:13:51Z [Term] id: DOID:0081253 name: supratentorial ependymoma, YAP1 fusion-positive is_a: DOID:0080890 ! supratentorial ependymoma created_by: mtutaj creation_date: 2022-09-30T21:15:35Z [Term] id: DOID:0081254 name: posterior fossa group A ependymoma def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns, including CpG island hypermethylation, global DNA hypomethylation, reduction of nuclear H3 p.K28me3 (K27me3) expression, and EZHIP overexpression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29909548/ "DO"] synonym: "Posterior fossa group A (PFA) ependymoma" EXACT [] xref: NCI:C186450 is_a: DOID:0080889 ! posterior fossa ependymoma created_by: mtutaj creation_date: 2022-09-30T21:18:42Z [Term] id: DOID:0081255 name: posterior fossa group B ependymoma def: "A posterior fossa ependymoma that arises in the posterior fossa with characteristic DNA methylation patterns including retention of nuclear H3 p.K28me3 (K27me3) expression, absence of CpG island hypermethylation, absence of global DNA hypomethylation, and absence of EZHIP overexpression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33902636/ "DO"] synonym: "Posterior fossa group B (PFB) ependymoma" EXACT [] xref: NCI:C186451 is_a: DOID:0080889 ! posterior fossa ependymoma created_by: mtutaj creation_date: 2022-09-30T21:19:59Z [Term] id: DOID:0081256 name: astrocytoma, IDH-mutant, grade 2 def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of well-differentiated fibrillary glial cells diffusely infiltrating the central nervous system. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35902341/ "DO"] xref: ICDO:9400/3 xref: NCI:C129271 is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma created_by: mtutaj creation_date: 2022-09-30T21:21:00Z [Term] id: DOID:0081257 name: astrocytoma, IDH-mutant, grade 3 def: "An IDH-mutant anaplastic astrocytoma that is characterized by the presence of increased mitotic activity and anaplastic features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34377594/ "DO"] xref: ICDO:9401/3 xref: NCI:C129290 is_a: DOID:0080875 ! IDH-mutant anaplastic astrocytoma created_by: mtutaj creation_date: 2022-09-30T21:22:26Z [Term] id: DOID:0081259 name: desmoplastic infantile ganglioglioma / desmoplastic infantile astrocytoma def: "A ganglioglioma occurring predominantly in the cerebral hemispheres of infants, that are driven by MAPK pathway activation and composed of a mixed astrocytic and neuronal component (DIG) or an astrocytic component only (DIA) embedded in an extensive desmoplastic stroma, often containing foci of undifferentiated embryonal-like tumour cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31223403/ "DO", https://pubmed.ncbi.nlm.nih.gov/35015431/ "DO"] synonym: "desmoplastic infantile astrocytoma" EXACT [] synonym: "desmoplastic infantile ganglioglioma" EXACT [] synonym: "desmoplastic infantile ganglioglioma and desmoplastic infantile astrocytoma" EXACT [] xref: ICDO:9412/1 xref: NCI:C4738 xref: NCI:C9476 is_a: DOID:5078 ! ganglioglioma created_by: mtutaj creation_date: 2022-09-30T21:24:40Z [Term] id: DOID:0081260 name: diffuse low-grade glioma, MAPK pathway-altered is_a: DOID:0080829 ! low grade glioma created_by: mtutaj creation_date: 2022-09-30T21:26:45Z [Term] id: DOID:0081261 name: angiocentric glioma def: "A low grade glioma that is characterized by an angiocentric pattern, monomorphic cellular infiltrate, and ependymal differentiation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34863434/ "DO"] xref: ICDO:9431/1 xref: NCI:C92552 is_a: DOID:0080829 ! low grade glioma created_by: mtutaj creation_date: 2022-09-30T21:33:07Z [Term] id: DOID:0081262 name: intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies alt_id: DOID:9004184 def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34314705/ "DO"] synonym: "IDDHISD" EXACT [] synonym: "TNPO2-RELATED CONDITION" EXACT [] xref: MIM:619556 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9001487 ! Facies is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2022-10-31T14:50:57Z [Term] id: DOID:0081263 name: neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities alt_id: DOID:9002308 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35861185/ "DO"] synonym: "NEDMCR" EXACT [] synonym: "NEDMCR syndrome" EXACT [] xref: MIM:617913 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:10907 ! microcephaly is_a: DOID:557 ! kidney disease is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2022-10-31T14:54:13Z [Term] id: DOID:0081264 name: developmental delay, hypotrophy, and dysmorphic features without Moebius syndrome def: "A syndrome that is characterized by developmental delay, hypotrophy, and dysmorphic features and that has_material_basis_in homozygous ultra-rare REV3L variant (T2753R). (DO)" [https://pubmed.ncbi.nlm.nih.gov/33474647/ "DO"] is_a: DOID:225 ! syndrome is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-10-31T14:57:38Z [Term] id: DOID:0081265 name: intellectual developmental disorder with abnormal behavior, microcephaly, and short stature alt_id: DOID:9009109 def: "An autosomal recessive intellectual developmental disorder that is characterized by abnormal behavior, microcephaly, and short stature and that has_material_basis_in homozygous mutation in the PUS7 gene on chromosome 7q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31583274/ "DO", https://pubmed.ncbi.nlm.nih.gov/35144859/ "DO"] synonym: "IDDABS" EXACT [] synonym: "IDDBAS" EXACT [] xref: MIM:618342 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:10907 ! microcephaly is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2022-10-31T15:01:55Z [Term] id: DOID:0081266 name: pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures alt_id: DOID:9007846 def: "A lissencephaly that is characterized by progressive microcephaly associated with abnormal facial features, hypotonia, and variable global developmental delay with impaired intellectual development and that has_material_basis_in homozygous or compound heterozygous mutation in the TUBGCP2 gene on chromosome 10q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31630790/ "DO", https://pubmed.ncbi.nlm.nih.gov/36078134/ "DO"] synonym: "CDCBM15" EXACT [] synonym: "complex cortical dysplasia with other brain malformations 15" EXACT [] synonym: "PAMDDFS" EXACT [] xref: MIM:618737 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-10-31T15:05:19Z [Term] id: DOID:0081267 name: graft-versus-host disease alt_id: DOID:9006073 alt_id: MIM:614395 def: "An immune system disease that is characterized by recognition by mature donor T cells, that contaminate the allogeneic bone marrow, of the recipient's tissue as foreign, causing a severe inflammatory disease characterized by rashes, diarrhea, and liver disease, and that has_material_basis_in an associated with variation in the interleukin-10 gene (IL10) on chromosome 1q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31466596/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK538235/ "DO"] synonym: "graft-versus-host disease, resistance to" RELATED [] synonym: "Graft-Versus-Host Diseases" EXACT [] synonym: "graft-versus-host disease, susceptibility to" RELATED [] synonym: "Graft vs Host Disease" EXACT [] synonym: "Graft-vs-Host Diseases" EXACT [] synonym: "GVHD" EXACT [] synonym: "GVHDS" EXACT [] synonym: "Homologous Wasting Disease" EXACT [] synonym: "PLATELET-ENDOTHELIAL CELL ADHESION MOLECULE 1 POLYMORPHISM" RELATED [] synonym: "Runt Disease" EXACT [] xref: ICD11:4B24 xref: MESH:D006086 xref: ORDO:39812 is_a: DOID:2914 ! immune system disease created_by: mtutaj creation_date: 2022-11-30T19:06:21Z [Term] id: DOID:0081268 name: pulmonary venoocclusive disease 1 alt_id: DOID:9007133 def: "A pulmonary venoocclusive disease that has_material_basis_in heterozygous mutation in the BMPR2 gene on chromosome 2q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18626305/ "DO"] synonym: "BMPR2-RELATED CONDITION" BROAD [] synonym: "BMPR2-RELATED DISORDER" BROAD [] synonym: "pulmonary veno-occlusive disease 1" EXACT [] synonym: "pulmonary venoocclusive disease 1, autosomal dominant" EXACT [] synonym: "PVOD1" EXACT [] xref: MIM:265450 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5453 ! pulmonary venoocclusive disease created_by: mtutaj creation_date: 2022-11-30T19:10:01Z [Term] id: DOID:0081269 name: pulmonary venoocclusive disease 2 alt_id: DOID:9007143 alt_id: MIM:234810 def: "A pulmonary venoocclusive disease that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2AK4 gene on chromosome 15q15 and that is characterized histologically by widespread fibrous intimal proliferation of septal veins and preseptal venules, and is frequently associated with pulmonary capillary dilatation and proliferation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24292273/ "DO"] synonym: "EIF2AK4-RELATED CONDITION" EXACT [] synonym: "Familial Pulmonary Capillary Hemangiomatosis" EXACT [] synonym: "Pulmonary Venoocclusive Disease 2, Autosomal Recessive" EXACT [] synonym: "PVOD2" EXACT [] xref: MESH:C535861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2725 ! capillary hemangioma is_a: DOID:5453 ! pulmonary venoocclusive disease is_a: DOID:9005172 ! Lung Neoplasms created_by: mtutaj creation_date: 2022-11-30T19:11:58Z [Term] id: DOID:0081270 name: Smith-McCort dysplasia 1 alt_id: DOID:9001494 def: "A Smith-McCort dysplasia that is characterized by short limbs and a short trunk with a barrel-shaped chest and has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene (607461) on chromosome 18q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9295067/ "DO"] synonym: "DYM-RELATED CONDITION" BROAD [] synonym: "SMC1" EXACT [] xref: MIM:607326 is_a: DOID:0060247 ! Smith-McCort dysplasia created_by: mtutaj creation_date: 2022-11-30T19:14:34Z [Term] id: DOID:0081271 name: Smith-McCort dysplasia 2 alt_id: DOID:9003257 def: "A Smith-McCort dysplasia that is characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening and that has_material_basis_in homozygous or compound heterozygous mutation in the RAB33B gene on chromosome 4q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23042644/ "DO"] synonym: "SMC2" EXACT [] xref: MIM:615222 is_a: DOID:0060247 ! Smith-McCort dysplasia created_by: mtutaj creation_date: 2022-11-30T19:15:57Z [Term] id: DOID:0081272 name: Sandestig-Stefanova syndrome alt_id: DOID:9008661 def: "A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32021605/ "DO", https://pubmed.ncbi.nlm.nih.gov/36158057/ "DO"] synonym: "NUP188-related condition" BROAD [] synonym: "SANDSTEF" EXACT [] xref: MIM:618804 xref: MONDO:0032926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities created_by: mtutaj creation_date: 2022-11-30T19:18:57Z [Term] id: DOID:0081273 name: Siddiqi syndrome alt_id: DOID:9002405 def: "A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28067622/ "DO", https://pubmed.ncbi.nlm.nih.gov/30214770/ "DO", https://pubmed.ncbi.nlm.nih.gov/35754111/ "DO"] synonym: "deafness, dystonia, developmental delay, and poor growth" EXACT [] synonym: "SIDDIS" EXACT [] xref: EFO:0010633 xref: MIM:618635 xref: MONDO:0032842 is_a: DOID:543 ! dystonia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008681 ! Deafness is_a: DOID:9455 ! lipid storage disease created_by: mtutaj creation_date: 2022-11-30T19:21:49Z [Term] id: DOID:0081274 name: peroxisome biogenesis disorder 14B alt_id: DOID:9002681 def: "A peroxisome biogenesis disorder that is characterized clinically by mild intellectual disability, congenital cataracts, progressive hearing loss, and polyneuropathy and that has_material_basis_in homozygous mutation in the PEX11B gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22581968/ "DO", https://pubmed.ncbi.nlm.nih.gov/31724321/ "DO"] synonym: "PEX11B-RELATED CONDITION" EXACT [] synonym: "PEX14B" EXACT [] xref: MIM:614920 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004708 ! Peroxisome Biogenesis Disorder, Complementation Group 14 created_by: mtutaj creation_date: 2022-11-30T19:24:10Z [Term] id: DOID:0081275 name: neurodevelopmental disorder with eye movement abnormalities and ataxia alt_id: DOID:9000753 def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay apparent from infancy and that has_material_basis_in heterozygous mutation in the FRMD5 gene on chromosome 15q15. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36206744/ "DO"] synonym: "NEDEMA" EXACT [] xref: MIM:620094 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9004866 ! Ataxia is_a: DOID:9008296 ! Eye Abnormalities created_by: mtutaj creation_date: 2022-11-30T19:26:13Z [Term] id: DOID:0081276 name: cerebellar atrophy, visual impairment, and psychomotor retardation alt_id: DOID:9001428 def: "A syndrome that is characterized by cerebellar atrophy, visual impairment and psychomotor retardation and that has_material_basis_in homozygous mutation in the EMC1 gene on chromosome 1p36. (DO)" [https://disorders.eyes.arizona.edu/disorders/cerebellar-atrophy-visual-impairment-and-psychomotor-retardation "DO", https://pubmed.ncbi.nlm.nih.gov/26942288/ "DO", https://pubmed.ncbi.nlm.nih.gov/29271071/ "DO", https://pubmed.ncbi.nlm.nih.gov/35234901/ "DO"] synonym: "CAVIPMR" EXACT [] synonym: "EMC1-RELATED DISORDER" EXACT [] xref: MIM:616875 xref: MONDO:0014811 xref: ORDO:480898 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9000343 ! Vision Disorders is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9277 ! primary cerebellar degeneration created_by: mtutaj creation_date: 2022-11-30T19:29:57Z [Term] id: DOID:0081277 name: diffuse pediatric-type high-grade glioma, H3-wildtype and IDH-wildtype def: "A high grade glioma that is characterized by the absence of histone H3, IDH1, and IDH2 mutations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34858308/ "DO"] synonym: "diffuse paediatric-type high-grade glioma, H3-wildtype and IDH-wildtype" EXACT [] xref: NCI:C185467 is_a: DOID:3070 ! high grade glioma created_by: mtutaj creation_date: 2022-12-15T11:46:40Z [Term] id: DOID:0081278 name: infant-type hemispheric glioma def: "A malignant astrocytoma that is characterized by receptor tyrosine kinase fusions in the NTRK family, ROS1, ALK, or MET genes, that arises in the cerebral hemisphere and occurs in early childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35404193/ "DO", https://pubmed.ncbi.nlm.nih.gov/36315913/ "DO", https://pubmed.ncbi.nlm.nih.gov/36316040/ "DO"] xref: NCI:C185471 is_a: DOID:3069 ! malignant astrocytoma created_by: mtutaj creation_date: 2022-12-15T11:47:48Z [Term] id: DOID:0081279 name: diffuse astrocytoma, MYB- or MYBL1-altered def: "A diffuse astrocytoma that is a diffusely infiltrative astroglial neoplasm composed of monomorphic cells with genetic alterations in MYB or MYBL1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35015431/ "DO"] xref: ICDO:9421/1 xref: NCI:C185196 is_a: DOID:4857 ! diffuse astrocytoma created_by: mtutaj creation_date: 2022-12-15T11:50:01Z [Term] id: DOID:0081280 name: pituicytoma def: "A posterior pituitary gland neoplasm that is characterized by the presence of elongated, spindle-shaped neoplastic glial cells that form storiform patterns or interlacing fascicular arrangements. (DO)" [https://en.wikipedia.org/wiki/Pituicytoma "DO", https://pubmed.ncbi.nlm.nih.gov/36057248/ "DO", https://pubmed.ncbi.nlm.nih.gov/36180358/ "DO"] xref: EFO:1000477 xref: ICDO:9432/1 xref: NCI:C94524 is_a: DOID:5048 ! posterior pituitary gland neoplasm created_by: mtutaj creation_date: 2022-12-15T11:51:15Z [Term] id: DOID:0081281 name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted grade 2 def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as a well differentiated tumor lacking anaplastic features (brisk mitotic activity, microvascular proliferation, necrosis). (DO)" [https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html "DO"] is_a: DOID:0080882 ! IDH-mutant and 1p/19q-codeleted oligodendroglioma created_by: mtutaj creation_date: 2022-12-15T11:52:51Z [Term] id: DOID:0081282 name: oligodendroglioma, IDH-mutant and 1p/19q-codeleted, grade 3 def: "An IDH-mutant, and 1p/19q-codeleted oligodendroglioma that is characterized as grade 3 tumors associated with a more rapid growth. Grade 3 tumors appear to have abnormalities on chromosomes 9 or 10, along with unusual amounts of growth factors and proteins, which are thought to contribute to the more rapid growth of these gliomas. (DO)" [https://www.abta.org/tumor_types/oligodendroglioma/ "DO", https://www.pathologyoutlines.com/topic/cnstumoroligodendrogliomaidhmutant.html "DO"] xref: ICDO:9451/3 is_a: DOID:0080882 ! IDH-mutant and 1p/19q-codeleted oligodendroglioma created_by: mtutaj creation_date: 2022-12-15T11:54:39Z [Term] id: DOID:0081283 name: papillary glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of astrocytes that line vascular and hyalinized pseudopapillae. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35854961/ "DO"] synonym: "Papillary glioneuronal tumour" EXACT [] xref: NCI:C92554 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2022-12-15T11:56:29Z [Term] id: DOID:0081284 name: rosette-forming glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of neurocytes forming pseudorosettes and astrocytes which contain Rosenthal fibers. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36230557/ "DO"] synonym: "RGNT" EXACT [] synonym: "Rosette-forming glioneuronal tumour" EXACT [] xref: ICDO:9509/1 xref: NCI:C129431 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2022-12-15T11:59:07Z [Term] id: DOID:0081285 name: myxoid glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by a dinucleotide mutation at codon 385 of the PDGFR gene. It usually occurs in the septum pellucidum but has also been described in the corpus callosum and periventricular white matter of the lateral ventricle. It is composed of oligodendrocyte-like cells in a prominent myxoid stroma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34297434/ "DO"] synonym: "Myxoid glioneuronal tumour" EXACT [] xref: NCI:C179229 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2022-12-15T12:00:57Z [Term] id: DOID:0081286 name: embryonal tumor with multilayered rosettes def: "A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36451902/ "DO"] synonym: "Embryonal tumour with multilayered rosettes" EXACT [] xref: ICDO:9478/3 xref: NCI:C186534 is_a: DOID:0060103 ! central nervous system embryonal tumor created_by: mtutaj creation_date: 2022-12-15T12:03:34Z [Term] id: DOID:0081287 name: white sponge nevus 1 def: "A white sponge nevus that has_material_basis_in heterozygous mutation in the keratin-4 gene (KRT4) on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7493030/ "DO"] synonym: "WSN1" EXACT [] xref: MIM:193900 is_a: DOID:0050448 ! white sponge nevus is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2023-01-30T18:53:24Z [Term] id: DOID:0081288 name: white sponge nevus 2 def: "A white sponge nevus that has_material_basis_in heterozygous mutation in the KRT13 gene on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14600690/ "DO"] synonym: "WSN2" EXACT [] xref: MIM:615785 is_a: DOID:0050448 ! white sponge nevus is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2023-01-30T18:58:12Z [Term] id: DOID:0081289 name: Antley-Bixler syndrome def: "A craniosynostosis that is characterized by radiohumeral synostosis present from the perinatal period. (DO)" [https://rarediseases.org/rare-diseases/antley-bixler-syndrome/ "DO"] synonym: "Antley and Bixler's syndrome" EXACT [] synonym: "Antley-Bixler syndrome, autosomal dominant" NARROW [] synonym: "Antley-Bixler syndrome phenotype" EXACT [] synonym: "combined partial deficiency of 17-hydroxylase and 21-hydroxylase" EXACT [] synonym: "multisynostotic osteodysgenesis" EXACT [] synonym: "multisynostotic osteodysgenesis with fractures" EXACT [] synonym: "multisynostotic osteodysgenesis with long bone fractures" EXACT [] synonym: "POR deficiency" EXACT [] synonym: "trapezoidocephaly synostosis syndrome" EXACT [] synonym: "trapezoidocephaly-synostosis syndromes" EXACT [] xref: GARD:5826 xref: MESH:D054882 is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2023-01-30T18:11:33Z [Term] id: DOID:0081290 name: Antley-Bixler syndrome without disordered steroidogenesis alt_id: DOID:9007609 def: "An Antley-Bixler syndrome that has_material_basis_in heterozygous mutation in a fibroblast growth factor receptor gene, FGFR2, on chromosome 10q26 and is an exclusively skeletal form of Antley-Bixler syndrome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15793702/ "DO"] synonym: "ABS2" EXACT [] synonym: "ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS" EXACT [] xref: MIM:207410 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081289 ! Antley-Bixler syndrome created_by: mtutaj creation_date: 2023-01-30T19:02:56Z [Term] id: DOID:0081291 name: chronic traumatic encephalopathy alt_id: DOID:9005200 def: "A tauopathy that is characterized by an abundance of hyperphosphorylated tau protein in neurons, astrocytes and cell processes around blood vessels and that is associated with repetitive head impacts or exposure to blast waves. (DO)" [https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-021-01189-4 "DO", https://pubmed.ncbi.nlm.nih.gov/33621530/ "DO", https://www.nature.com/articles/s41586-019-1026-5 "DO"] synonym: "Chronic Post-Concussive Encephalopathies" EXACT [] synonym: "Chronic Post Concussive Encephalopathy" EXACT [] synonym: "Chronic Post-Traumatic Encephalopathies" EXACT [] synonym: "Chronic Post Traumatic Encephalopathy" EXACT [] synonym: "Post-Concussive Encephalopathies" EXACT [] synonym: "Post Concussive Encephalopathy" EXACT [] synonym: "Post-Traumatic Encephalopathies" EXACT [] synonym: "Post Traumatic Encephalopathy" EXACT [] xref: MESH:D000070627 is_a: DOID:0081292 ! traumatic brain injury is_a: DOID:680 ! tauopathy is_a: DOID:9005179 ! Chronic Brain Injury created_by: mtutaj creation_date: 2023-01-30T19:05:06Z [Term] id: DOID:0081292 name: traumatic brain injury alt_id: DOID:9003061 def: "A brain disease that is characterized by brain dysfunction caused by an outside force, usually a violent blow to the head. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459300/ "DO"] synonym: "Brain Trauma" EXACT [] synonym: "brain traumas" EXACT [] synonym: "TBI (Traumatic Brain Injuries)" EXACT [] synonym: "TBI (Traumatic Brain Injury)" EXACT [] synonym: "TBIs (Traumatic Brain Injuries)" EXACT [] synonym: "Traumatic Brain Injuries" EXACT [] synonym: "Traumatic Encephalopathies" EXACT [] synonym: "traumatic encephalopathy" EXACT [] xref: MESH:D000070642 is_a: DOID:9000998 ! Brain Injuries created_by: mtutaj creation_date: 2023-01-30T19:08:24Z [Term] id: DOID:0081293 name: salivary gland mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the salivary gland. (DO)" [https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html "DO"] synonym: "Major Salivary Gland Mucoepidermoid Carcinoma" NARROW [] xref: EFO:1000346 xref: NCI:C5908 is_a: DOID:0050904 ! salivary gland carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: mtutaj creation_date: 2023-01-30T19:11:40Z [Term] id: DOID:0081294 name: neuronal intranuclear inclusion disease alt_id: DOID:9002831 def: "A neurodegenerative disease that is characterized by a wide range of clinical manifestations, including pyramidal and extrapyramidal symptoms, cerebellar ataxia, cognitive decline and dementia, peripheral neuropathy, and autonomic dysfunction, and that has_material_basis_in heterozygous repeat expansion (CGG) in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27797808/ "DO"] synonym: "NIID" EXACT [] xref: MESH:C537395 xref: MIM:603472 xref: MONDO:0011327 xref: NCI:C122655 xref: ORDO:2289 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1289 ! neurodegenerative disease created_by: mtutaj creation_date: 2023-01-30T19:26:48Z [Term] id: DOID:0081295 name: essential tremor 6 alt_id: DOID:9004326 def: "An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31819945/ "DO"] synonym: "ETM6" EXACT [] synonym: "hereditary essential tremor 6" EXACT [] xref: MIM:618866 xref: MONDO:0030027 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor created_by: mtutaj creation_date: 2023-01-30T19:29:38Z [Term] id: DOID:0081296 name: oculopharyngodistal myopathy alt_id: DOID:9008215 def: "A myopathy that is characterized by progressive external ocular, facial and pharyngeal muscle weakness, leading to variable degrees of ptosis, ophthalmoparesis, facial muscle atrophy, dysarthria and dysphagia, as well as distal muscle weakness and atrophy of lower and upper extremities. (DO)" [https://jnnp.bmj.com/content/75/10/1499 "DO"] synonym: "faciooculolaryngopharyngeal myopathy with distal and respiratory involvement" EXACT [] synonym: "FOLP-DR" EXACT [] synonym: "oculopharyngodistal myopathies" EXACT [] synonym: "OPDM" EXACT [] xref: GARD:12592 xref: MESH:C563508 xref: MIM:PS164310 xref: ORDO:98897 is_a: DOID:9884 ! muscular dystrophy created_by: mtutaj creation_date: 2023-01-30T19:31:51Z [Term] id: DOID:0081297 name: oculopharyngodistal myopathy 1 alt_id: DOID:9002808 def: "An oculopharyngodistal myopathy that is characterized by adult-onset ptosis, external ophthalmoplegia, facial muscle weakness, distal limb muscle weakness and atrophy, and pharyngeal involvement, resulting in dysphagia and dysarthria, and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31332380/ "DO"] synonym: "OPDM1" EXACT [] xref: MIM:164310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy created_by: mtutaj creation_date: 2023-01-30T19:34:53Z [Term] id: DOID:0081298 name: oculopharyngodistal myopathy 2 alt_id: DOID:9000168 def: "An oculopharyngodistal myopathy that is characterized by onset of distal muscle weakness, mainly of the lower limbs, and/or ophthalmoplegia in the second or third decades of life, and that has_material_basis_in heterozygous trinucleotide repeat expansion (GGC(n)) in the 5-prime untranslated region (UTR) of the GIPC1 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32413282/ "DO"] synonym: "OPDM2" EXACT [] xref: MIM:618940 xref: NCI:C190873 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy created_by: mtutaj creation_date: 2023-01-30T19:36:22Z [Term] id: DOID:0081299 name: oculopharyngodistal myopathy 3 alt_id: DOID:9002692 def: "An oculopharyngodistal myopathy that is characterized by progressive muscle weakness with ocular, facial, pharyngeal, and distal limb involvement, resulting in dysarthria and gait difficulties and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the NOTCH2NLC gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33693509/ "DO"] synonym: "OPDM3" EXACT [] xref: MIM:619473 xref: MONDO:0023671 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy created_by: mtutaj creation_date: 2023-01-30T19:36:35Z [Term] id: DOID:0081300 name: oculopharyngodistal myopathy 4 alt_id: DOID:9000611 def: "An oculopharyngodistal myopathy that is characterized by progressive ptosis, ophthalmoparesis, facial and masseter weakness, and muscle weakness of the distal limbs and that has_material_basis_in heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region (UTR) of the RILPL1 gene on chromosome 12q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35148830/ "DO"] synonym: "OPDM4" EXACT [] xref: MIM:619790 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081296 ! oculopharyngodistal myopathy created_by: mtutaj creation_date: 2023-01-30T19:36:51Z [Term] id: DOID:0081301 name: intellectual developmental disorder with ocular anomalies and distinctive facial features alt_id: DOID:9001279 def: "A syndromic intellectual disability that is characterized by global developmental delay, mildly impaired intellectual development, ophthalmologic anomalies, microcephaly or relative microcephaly, hearing loss, and characteristic facial features, and that has_material_basis_in heterozygous mutation in the MTSS2 gene on chromosome 16q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36067766/ "DO"] synonym: "IDDOF" EXACT [] synonym: "MTSS2-RELATED DISORDER" EXACT [] synonym: "MTSS2-related neurodevelopmental disorder" EXACT [] xref: MIM:620086 is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9008296 ! Eye Abnormalities created_by: mtutaj creation_date: 2023-01-30T19:40:53Z [Term] id: DOID:0081302 name: diffuse leptomeningeal glioneuronal tumor def: "A central nervous system benign neoplasm that is characterized by the presence of clear glial neoplastic cells reminiscent of oligodendroglioma. (DO)" [https://radiopaedia.org/articles/diffuse-leptomeningeal-glioneuronal-tumour?lang=us "DO"] synonym: "Diffuse leptomeningeal glioneuronal tumour" EXACT [] xref: ICDO:9509/3 xref: NCI:C129424 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2023-01-30T19:44:00Z [Term] id: DOID:0081303 name: multinodular and vacuolating neuronal tumor def: "A central nervous system benign neoplasm that is composed of cells with glial and/or neuronal differentiation forming multiple nodules with prominent vacuolation and that affecting the cerebral hemispheres. (DO)" [https://radiopaedia.org/articles/multinodular-and-vacuolating-neuronal-tumour-1?lang=us "DO"] xref: ICDO:9509/0 xref: NCI:C129427 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2023-01-30T19:45:45Z [Term] id: DOID:0081304 name: high-grade astrocytoma with piloid features def: "An anaplastic astrocytoma that is characterized by high-grade piloid and/or glioblastoma-like histological features. It may occur anywhere in the central nervous system but most often arises in the posterior fossa. (DO)" [https://radiopaedia.org/articles/high-grade-astrocytoma-with-piloid-features-1?lang=us "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8131327/ "DO"] xref: ICDO:9421/3 xref: NCI:C185879 is_a: DOID:3078 ! anaplastic astrocytoma created_by: mtutaj creation_date: 2023-01-30T19:46:54Z [Term] id: DOID:0081305 name: polymorphous low grade neuroepithelial tumour of the young def: "A central nervous system benign neoplasm that is characterized by the presence of oligodendroglioma-like components, may also contain astrocytic components and is associated with seizures and in many cases refractory epilepsy. (DO)" [https://journals.sagepub.com/doi/full/10.1177/20363613221083360 "DO"] synonym: "Massively Calcified Low Grade Glioma" EXACT [] xref: NCI:C180378 is_a: DOID:0060090 ! central nervous system benign neoplasm created_by: mtutaj creation_date: 2023-01-30T19:48:26Z [Term] id: DOID:0081306 name: spindle cell oncocytoma def: "A posterior pituitary benign neoplasm that is characterized by the presence of spindle cells with eosinophilic, granular cytoplasm forming fascicles. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6486883/ "DO"] xref: ICDO:8290/0 xref: NCI:C94537 is_a: DOID:5048 ! posterior pituitary gland neoplasm created_by: mtutaj creation_date: 2023-01-30T19:49:29Z [Term] id: DOID:0081307 name: lymphomatoid granulomatosis alt_id: DOID:9007761 def: "A lymphoproliferative syndrome that is characterized by overproduction (proliferation) of white blood cells called lymphocytes. The abnormal cells infiltrate and accumulate (form lesions or nodules) within tissues. The lesions or nodules damage or destroy the blood vessels within these tissues. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/ "DO"] synonym: "lymphomatoid granulomatoses" EXACT [] xref: ICD10CM:C83.8 xref: MESH:D008230 xref: MONDO:0019466 xref: NCI:C7930 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:707 ! B-cell lymphoma created_by: mtutaj creation_date: 2023-01-30T19:51:02Z [Term] id: DOID:0081308 name: grade I lymphomatoid granulomatosis def: "A lymphomatoid granulomatosis that is characterized by the presence of a polymorphous lymphoid infiltrate without cytologic atypia. Large lymphocytes are absent or rare. By in situ hybridization, EBV-positive cells are infrequently seen. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources "DO"] xref: NCI:C7931 is_a: DOID:0081307 ! lymphomatoid granulomatosis created_by: mtutaj creation_date: 2023-01-30T19:52:38Z [Term] id: DOID:0081309 name: grade II lymphomatoid granulomatosis def: "A lymphomatoid granulomatosis that is characterized by the presence of occasional large lymphoid cells or immunoblasts in a polymorphous background. Necrosis is more commonly seen as compared to grade I lymphomatoid granulomatosis. By in situ hybridization, EBV-positive cells are readily seen. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources "DO"] xref: ICDO:9766/1 is_a: DOID:0081307 ! lymphomatoid granulomatosis created_by: mtutaj creation_date: 2023-01-30T19:53:27Z [Term] id: DOID:0081310 name: grade III lymphomatoid granulomatosis def: "A lymphomatoid granulomatosis that is characterized by the presence of aggregates of neoplastic large B-lymphocytes, usually admixed with pleomorphic and Hodgkin-like cells, in a background of chronic inflammation. Necrotic changes are present and are usually extensive. (DO)" [https://rarediseases.org/rare-diseases/lymphomatoid-granulomatosis/?filter=ovr-ds-resources "DO"] xref: ICDO:9766/3 is_a: DOID:0081307 ! lymphomatoid granulomatosis created_by: mtutaj creation_date: 2023-01-30T19:54:33Z [Term] id: DOID:0081311 name: intravascular large B-cell lymphoma def: "A large B-cell lymphoma that is characterized by the presence of lymphoma cells exclusively in the lumina of small vessels, particularly capillaries. (DO)" [https://ashpublications.org/blood/article/132/15/1561/39314/Intravascular-large-B-cell-lymphoma-a-chameleon "DO"] xref: ICDO:9712/3 xref: NCI:C4342 is_a: DOID:0081452 ! large B-cell lymphoma created_by: mtutaj creation_date: 2023-01-30T19:55:46Z [Term] id: DOID:0081312 name: T-cell non-Hodgkin lymphoma alt_id: DOID:9005436 def: "A non-Hodgkin lymphoma of T-cell lineage. (DO)" [https://www.cancer.org/cancer/non-hodgkin-lymphoma/treating/t-cell-lymphoma.html "DO"] synonym: "T-Cell Lymphoma" EXACT [] synonym: "T-Cell Lymphomas" EXACT [] xref: ICDO:9702/3 xref: MESH:D016399 xref: NCI:C3466 is_a: DOID:0060060 ! non-Hodgkin lymphoma created_by: mtutaj creation_date: 2023-01-30T18:35:50Z [Term] id: DOID:0081313 name: primary diffuse large B-cell lymphoma of the central nervous system def: "A diffuse large B-cell lymphoma arising from the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840863/ "DO"] xref: NCI:C71720 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: mtutaj creation_date: 2023-01-30T20:02:06Z [Term] id: DOID:0081314 name: extraventricular neurocytoma def: "A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24357019/ "DO"] xref: NCI:C92555 is_a: DOID:3541 ! cerebral ventricle cancer created_by: mtutaj creation_date: 2023-01-30T20:03:02Z [Term] id: DOID:0081315 name: central nervous system tumor with BCOR internal tandem duplication def: "A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35809497/ "DO"] synonym: "CNS tumour with BCOR internal tandem duplication" EXACT [] xref: NCI:C186556 is_a: DOID:0060103 ! central nervous system embryonal tumor created_by: mtutaj creation_date: 2023-01-30T20:07:41Z [Term] id: DOID:0081316 name: primary intracranial sarcoma, DICER1-mutant def: "A brain sarcoma that is composed of malignant pleomorphic or spindle neoplastic cells typically demonstrating myogenic and/or chondroid differentiation. Cytoplasmic eosinophilic globules and myxoid stroma formation are usually present. It is associated with mutations in the DICER1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35789272/ "DO"] xref: ICDO:9480/3 xref: MONDO:0858967 xref: NCI:C186610 is_a: DOID:2132 ! brain sarcoma created_by: mtutaj creation_date: 2023-01-30T20:08:36Z [Term] id: DOID:0081317 name: multiple synostoses syndrome 1 alt_id: DOID:9007208 def: "A multiple synostoses syndrome is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the NOG gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11846737/ "DO"] synonym: "DEAFNESS-SYMPHALANGISM SYNDROME OF HERRMANN" EXACT [] synonym: "FACIOAUDIOSYMPHALANGISM SYNDROME" EXACT [] synonym: "SYMPHALANGISM-BRACHYDACTYLY SYNDROME" EXACT [] synonym: "SYNOSTOSES, MULTIPLE, WITH BRACHYDACTYLY" EXACT [] synonym: "SYNS1" EXACT [] synonym: "WL SYNDROME" EXACT [] xref: GARD:3836 xref: MIM:186500 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050794 ! multiple synostoses syndrome is_a: DOID:9001951 ! Distal Symphalangism is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2023-02-27T12:45:29Z [Term] id: DOID:0081318 name: multiple synostoses syndrome 2 alt_id: DOID:9006580 alt_id: MIM:610017 def: "A multiple synostoses syndrome that is characterized by progressive joint fusions of the fingers, wrists, ankles, and cervical spine; characteristic facies, including a broad hemicylindrical nose; and progressive conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16532400/ "DO"] synonym: "SYNS2" EXACT [] xref: GARD:9916 xref: MESH:C537380 is_a: DOID:0050794 ! multiple synostoses syndrome created_by: mtutaj creation_date: 2023-02-27T12:45:47Z [Term] id: DOID:0081319 name: multiple synostoses syndrome 3 alt_id: DOID:9002671 alt_id: MIM:612961 def: "A multiple synostoses syndrome that is characterized by multiple joint fusions, usually commencing in the hands, conductive deafness, and characteristic facial features, including a broad, tubular-shaped nose and a thin upper vermilion and that has_material_basis_in heterozygous mutation in the FGF9 gene on chromosome 13q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28730625/ "DO"] synonym: "SYNS3" EXACT [] xref: MESH:C567839 is_a: DOID:0050794 ! multiple synostoses syndrome created_by: mtutaj creation_date: 2023-02-27T12:45:58Z [Term] id: DOID:0081320 name: multiple synostoses syndrome 4 alt_id: DOID:9009151 def: "A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that has_material_basis_in heterozygous mutation in the GDF6 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29130651/ "DO"] synonym: "SYNS4" EXACT [] xref: MIM:617898 is_a: DOID:0050794 ! multiple synostoses syndrome created_by: mtutaj creation_date: 2023-02-27T12:46:08Z [Term] id: DOID:0081321 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A alt_id: DOID:9004135 alt_id: MIM:178110 def: "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, axillae, elbows, and/or knees, as well as variable vertebral, carpal, and tarsal fusions and short stature and that has material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29805041/ "DO"] synonym: "autosomal dominant multiple pterygium syndrome" EXACT [] synonym: "contractures, pterygia, and variable skeletal fusions syndrome 1A" EXACT [] synonym: "CPSFS1A" EXACT [] synonym: "CPSKF1A" EXACT [] synonym: "DA8" RELATED [] synonym: "distal arthrogryposis, type 8" RELATED [] xref: MESH:C566739 xref: ORDO:65743 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome created_by: mtutaj creation_date: 2023-02-27T12:51:25Z [Term] id: DOID:0081322 name: contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B alt_id: DOID:9003440 def: "A contractures, pterygia, and spondylocarpotarsal fusion syndrome that is characterized by contractures of proximal and distal joints, pterygia involving the neck, elbows, fingers, and/or knees, and variable vertebral, carpal, and tarsal fusions and that has_material_basis_in compound heterozygous mutation in the MYH3 gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29805041/ "DO"] synonym: "Autosomal recessive multiple pterygium syndrome" EXACT [] synonym: "contractures, pterygia, and variable skeletal fusions syndrome 1B" EXACT [] synonym: "CPSFS1B" EXACT [] synonym: "CPSKF1B" EXACT [] xref: GARD:7111 xref: MIM:618469 xref: ORDO:2990 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome created_by: slaulede creation_date: 2019-09-10T00:00:00Z [Term] id: DOID:0081323 name: breast implant illness def: "A syndrome that is characterized by fatigue, problems with memory or concentration, joint and muscle pain, hair loss, weight changes and anxiety/depression. (DO)" [https://www.fda.gov/medical-devices/breast-implants/medical-device-reports-systemic-symptoms-women-breast-implants "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9060741/ "DO"] is_a: DOID:225 ! syndrome is_a: DOID:3463 ! breast disease created_by: mtutaj creation_date: 2023-02-27T12:55:48Z [Term] id: DOID:0081324 name: neurodevelopmental disorder with poor growth, spastic tetraplegia, and hearing loss alt_id: DOID:9003640 def: "An autosomal recessive intellectual developmental disorder that is characterized by poor growth, spastic tetraplegia, and hearing loss and that has_material_basis_in homozygous mutation in the PSMC1 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35861243/ "DO"] synonym: "Birk-Aharoni syndrome" EXACT [] synonym: "BKAH" EXACT [] synonym: "NEDGTH" EXACT [] xref: MIM:620071 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:12835 ! quadriplegia is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2023-02-27T12:57:01Z [Term] id: DOID:0081325 name: developmental and epileptic encephalopathy 94 alt_id: DOID:9001359 def: "A developmental and epileptic encephalopathy characterized by onset of multiple seizure types in the first few years of life and associated with poor prognosis and that has_material_basis_in heterozygous mutation in the CHD2 gene on chromosome 15q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23708187/ "DO"] synonym: "CHD2-related disorder" EXACT [] synonym: "DEE94" EXACT [] xref: EFO:0020000 xref: MIM:615369 is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-02-27T13:05:09Z [Term] id: DOID:0081326 name: oxoglutarate dehydrogenase deficiency alt_id: DOID:9006776 alt_id: MIM:203740 def: "An amino acid metabolic disorder that is characterized by infantile and pediatric onset basal ganglia-associated movement disorders, hypotonia, developmental delays, ataxia, and seizures and that has_material_basis_in homozygous mutation in the oxoglutarate dehydrogenase gene (OGDH) on chromosome 7p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32383294/ "DO"] synonym: "2-alpha-ketoglutarate dehydrogenase deficiency" EXACT [] synonym: "2-ketoglutarate dehydrogenase deficiency" EXACT [] synonym: "alpha-ketoglutarate dehydrogenase deficiency" EXACT [] synonym: "ALPHA-KGD DEFICIENCY" EXACT [] synonym: "OGDHD" EXACT [] synonym: "Oxoglutaric Aciduria" EXACT [] xref: GARD:617 xref: MESH:C536582 xref: ORDO:31 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2023-02-27T13:07:01Z [Term] id: DOID:0081327 name: neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures alt_id: DOID:9009222 def: "A neurodegenerative disease that is characterized by neurodevelopmental regression that became apparent between 2 and 10 years of age after normal early development in most patients, although a few had mild early delays and that has_material_basis_in heterozygous mutation in the IRF2BPL gene on chromosome 14q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30057031/ "DO", https://pubmed.ncbi.nlm.nih.gov/30166628/ "DO", https://rarediseases.org/gard-rare-disease/irf2bpl-related-disorders/ "DO", https://www.bcm.edu/news/wnt-signaling-is-identified-as-a-target-in-nedamss-disorder "DO", https://www.childneurologyfoundation.org/disorder/irf2bpl/ "DO"] synonym: "IRF2BPL-related condition" BROAD [] synonym: "NEDAMSS" EXACT [] xref: MIM:618088 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2023-02-27T13:08:58Z [Term] id: DOID:0081328 name: familial hyperinsulinemic hypoglycemia 8 alt_id: DOID:9006400 def: "A hyperinsulinemic hypoglycemia characterized by protein-related hypoglycemia and persistent mild hyperammonemia and that has_material_basis_in homozygous mutation in the SLC25A36 gene on chromosome 3q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34971397/ "DO"] synonym: "HHF8" EXACT [] xref: MIM:620211 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13317 ! hyperinsulinemic hypoglycemia created_by: mtutaj creation_date: 2023-03-31T15:57:18Z [Term] id: DOID:0081329 name: glycogen storage disease I def: "A glycogen storage disease that is characterized by severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas. (DO)" [https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I "DO", https://www.ncbi.nlm.nih.gov/books/NBK1312/ "DO", https://www.omim.org/entry/232200#33 "DO"] synonym: "deficiency of glucose-6-phosphatase" EXACT [] synonym: "Gierke's disease" EXACT [] synonym: "Gierke disease" EXACT [] synonym: "Gierkes disease" EXACT [] synonym: "Glucose-6-Phosphatase Deficiencies" EXACT [] synonym: "Glucose 6 Phosphatase Deficiency" EXACT [] synonym: "glucosephosphatase deficiencies" EXACT [] synonym: "Glucosephosphatase Deficiency" EXACT [] synonym: "Glycogenosis 1" EXACT [] synonym: "glycogenosis type I" EXACT [] synonym: "Glycogen storage disease 1" EXACT [] synonym: "glycogen storage disease 1 (GSD I)" EXACT [] synonym: "glycogen storage disease type I" EXACT [] synonym: "hepatorenal glycogen storage disease" EXACT [] synonym: "von Gierke's disease" EXACT [] synonym: "von Gierke Disease" EXACT [] synonym: "von Gierkes disease" EXACT [] xref: EFO:0007288 xref: ICD10CM:E74.01 xref: MESH:D005953 xref: MONDO:0002413 xref: NCI:C84733 xref: ORDO:364 is_a: DOID:2747 ! glycogen storage disease created_by: mtutaj creation_date: 2023-03-31T16:02:55Z [Term] id: DOID:0081330 name: glycogen storage disease Ib alt_id: DOID:9000306 alt_id: MIM:232220 def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31536830/ "DO"] synonym: "glucose-6-phosphate transport defect" EXACT [] synonym: "glycogen storage disease type IB" EXACT [] synonym: "GSD1B" EXACT [] synonym: "GSD Ib" EXACT [] xref: MESH:C562594 xref: NCI:C122661 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081329 ! glycogen storage disease I created_by: mtutaj creation_date: 2023-03-31T16:09:50Z [Term] id: DOID:0081331 name: glycogen storage disease Ic alt_id: DOID:9008172 alt_id: MIM:232240 def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PT1 gene (SLC37A4), which encodes glucose-6-phosphate translocase, on chromosome 11q23. G6PT1 is also the site of the defect in glycogen storage disease Ib. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10598822/ "DO"] synonym: "GSD1C" EXACT [] synonym: "GSD IC" EXACT [] xref: MESH:C562805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081329 ! glycogen storage disease I created_by: mtutaj creation_date: 2023-03-31T16:11:29Z [Term] id: DOID:0081332 name: progeroid syndrome def: "A syndrome that is characterized by the premature onset of age-related pathologies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34272172/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958309/ "DO"] synonym: "progeroid disease" EXACT [] synonym: "progeroid syndromes" EXACT [] xref: MIM:PS176670 is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2023-03-31T15:28:51Z [Term] id: DOID:0081333 name: Wiedemann-Rautenstrauch syndrome alt_id: DOID:9008367 def: "A progeroid syndrome that is characterized by intrauterine growth retardation, failure to thrive, short stature, a progeroid appearance, hypotonia, and variable mental impairment and that has_material_basis_in compound heterozygous mutation in the POLR3A gene on chromosome 10q22. (DO)" [https://medlineplus.gov/genetics/condition/wiedemann-rautenstrauch-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/23696134/ "DO"] synonym: "neonatal progeroid syndrome" EXACT [] synonym: "neonatal pseudo-hydrocephalic progeroid syndrome" EXACT [] synonym: "POLR3A-RELATED DISORDERS" BROAD [] synonym: "POLR3A-RELATED NEUROLOGICAL DISORDER" BROAD [] synonym: "WDRTS" EXACT [] synonym: "WIEDEMANN-RAUTENSTRAUCH-LIKE PROGEROID SYNDROME" EXACT [] xref: GARD:330 xref: MESH:C536423 xref: MIM:264090 xref: MONDO:0009910 xref: NCI:C121565 xref: ORDO:3455 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome is_a: DOID:3911 ! progeria is_a: DOID:9002231 ! Fetal Growth Retardation created_by: mtutaj creation_date: 2023-03-31T16:16:17Z [Term] id: DOID:0081334 name: Nestor-Guillermo progeria syndrome alt_id: DOID:9000907 def: "A progeroid syndrome that is characterized by lipoatrophy, osteoporosis, and very severe osteolysis. Patients have no cardiovascular impairment, diabetes mellitus, or hypertriglyceridemia, but suffer profound skeletal abnormalities that affect their quality of life and that has_material_basis_in homozygous mutation in the BANF1 gene on chromosome 11q13. Onset is after 2 years of age. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32783369/ "DO"] synonym: "NGPS" EXACT [] synonym: "PROGERIA SYNDROME, CHILDHOOD-ONSET, WITH OSTEOLYSIS" EXACT [] synonym: "PSCOO" EXACT [] xref: GARD:11008 xref: MIM:614008 xref: ORDO:280576 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome is_a: DOID:9000488 ! Progeria Syndrome, Childhood-Onset is_a: DOID:9006081 ! Osteolysis created_by: mtutaj creation_date: 2023-03-31T16:18:57Z [Term] id: DOID:0081335 name: Becker disease alt_id: DOID:9009057 def: "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8301644/ "DO"] synonym: "CONGENITAL MYOTONIA, AUTOSOMAL RECESSIVE FORM" EXACT [] synonym: "Myotonia Congenita, Autosomal Recessive" EXACT [] xref: MIM:255300 xref: MIM:255700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2106 ! myotonia congenita created_by: mtutaj creation_date: 2023-05-31T19:43:01Z [Term] id: DOID:0081336 name: Thomsen disease alt_id: DOID:9001336 def: "A myotonia congenita that is characterized by muscle stiffness and an inability of the muscle to relax after voluntary contraction and that has_material_basis_in heterozygous mutation in the gene encoding skeletal muscle chloride channel-1 (CLCN1) on chromosome 7q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11840191/ "DO"] synonym: "congenital myotonia, autosomal dominant form" EXACT [] synonym: "generalized myotonia of Thomsen" EXACT [] synonym: "Myotonia Congenita, Autosomal Dominant" EXACT [] synonym: "THD" EXACT [] synonym: "Thomsen's Disease" EXACT [] synonym: "Thomsen Generalized Myotonia" EXACT [] synonym: "Thomsens disease" EXACT [] xref: MIM:160800 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2106 ! myotonia congenita created_by: mtutaj creation_date: 2023-05-31T19:49:34Z [Term] id: DOID:0081337 name: congenital myopathy alt_id: DOID:0080100 def: "A myopathy that is characterized by hypotonia and weakness, usually present from birth. (DO)" [https://ijponline.biomedcentral.com/articles/10.1186/s13052-017-0419-z "DO"] synonym: "Batten Turner congenital myopathy" EXACT [] xref: MIM:PS117000 is_a: DOID:423 ! myopathy created_by: mtutaj creation_date: 2023-05-31T11:59:47Z [Term] id: DOID:0081338 name: myofibrillar myopathy 11 alt_id: DOID:9007506 def: "A myofibrillar myopathy that is characterized by onset of slowly progressive proximal muscle weakness in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the UNC45B gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33217308/ "DO"] synonym: "congenital myopathy with eccentric cores" EXACT [] synonym: "MFM11" EXACT [] xref: MIM:619178 xref: MONDO:0030927 is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2023-05-31T19:53:55Z [Term] id: DOID:0081339 name: congenital myopathy 2B def: "A congenital myopathy that is characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25182138/ "DO"] synonym: "CMYO2B" EXACT [] synonym: "CMYP2B" EXACT [] synonym: "congenital myopathy 2B, severe infantile, autosomal recessive" EXACT [] xref: MIM:620265 xref: MONDO:0859517 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T19:59:09Z [Term] id: DOID:0081340 name: congenital myopathy 2C def: "A congenital myopathy that is characterized by severe congenital weakness usually resulting in death from respiratory failure in the first year or so of life and that has_material_basis_in heterozygous mutation in the ACTA1 gene on chromosome 1q42. Heterozygous mutation in the ACTA1 gene can also cause autosomal dominant typical congenital myopathy-2A (CMYP2A). Biallelic mutation in the ACTA1 gene causes autosomal recessive severe infantile congenital myopathy-2B (CMYP2B). (DO)" [https://pubmed.ncbi.nlm.nih.gov/34561123/ "DO"] synonym: "CMYO2C" EXACT [] synonym: "CMYP2C" EXACT [] synonym: "congenital myopathy 2C, severe infantile, autosomal dominant" EXACT [] xref: MIM:620278 xref: MONDO:0859523 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:07:26Z [Term] id: DOID:0081341 name: congenital myopathy 5 alt_id: DOID:9006785 def: "A congenital myopathy that is characterized by the onset of muscle weakness in infancy manifest as neonatal hypotonia, delayed motor development, and often distal contractures and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding titin (TTN) on chromosome 2q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24105469/ "DO"] synonym: "CMYO5" EXACT [] synonym: "CMYP5" EXACT [] synonym: "Congenital Myopathy 5 with Cardiomyopathy" EXACT [] synonym: "Early-Onset Myopathy with Fatal Cardiomyopathy" EXACT [] synonym: "EOMFC" EXACT [] synonym: "Salih Cmd" EXACT [] synonym: "Salih Congenital Muscular Dystrophy" EXACT [] synonym: "Salih Myopathy" EXACT [] synonym: "SALMY" EXACT [] xref: MESH:C567129 xref: MIM:611705 xref: MONDO:0012714 xref: ORDO:289377 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:11:45Z [Term] id: DOID:0081342 name: congenital myopathy 8 alt_id: DOID:9004417 def: "A congenital myopathy that is characterized by hypotonia and delayed motor development apparent from infancy or childhood, resulting in difficulties walking or loss of ambulation within the first few decades and that has_material_basis_in heterozygous mutation in the ACTN2 gene on chromosome 1q43. Heterozygous mutation in the ACTN2 gene can also cause distal myopathy-6 (MPD6), which shows later onset and is less severe. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30701273/ "DO"] synonym: "CMYO8" EXACT [] synonym: "CMYP8" EXACT [] synonym: "Congenital Myopathy with Structured Cores and Z-Line Abnormalities" EXACT [] synonym: "MSCD" EXACT [] synonym: "MULTIPLE STRUCTURED CORE DISEASE" EXACT [] synonym: "MYOCOZ" EXACT [] xref: MIM:618654 xref: MONDO:0032852 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:14:59Z [Term] id: DOID:0081343 name: congenital myopathy 9A alt_id: DOID:9006903 def: "A congenital myopathy that is characterized by neonatal hypotonia, poor feeding, fractures of the long bones, and respiratory insufficiency and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30770808/ "DO"] synonym: "CMYO9A" EXACT [] synonym: "CMYP9A" EXACT [] synonym: "congenital myopathy 9A with respiratory insufficiency and bone fractures" EXACT [] synonym: "congenital myopathy with respiratory insufficiency and bone fractures" EXACT [] synonym: "MYORIBF" EXACT [] xref: MIM:618822 xref: MONDO:0032936 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:11162 ! respiratory failure is_a: DOID:9002589 ! Bone Fractures created_by: mtutaj creation_date: 2023-05-31T20:23:24Z [Term] id: DOID:0081344 name: congenital myopathy 9B alt_id: DOID:9002436 def: "A congenital myopathy that is neonatal hypotonia followed by mildly delayed walking in childhood, mainly affecting proximal muscles, and that has_material_basis_in homozygous mutation in the FXR1 gene on chromosome 3q28. Biallelic mutation in the FXR1 gene also causes CMYP9A. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30770808/ "DO"] synonym: "CMYO9B" EXACT [] synonym: "CMYP9B" EXACT [] synonym: "Congenital Myopathy 9B, Proximal, with Minicore Lesions" EXACT [] synonym: "Congenital Proximal Myopathy with Minicore Lesions" EXACT [] synonym: "MYOPMIL" EXACT [] xref: MIM:618823 xref: MONDO:0032937 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:25:36Z [Term] id: DOID:0081345 name: congenital myopathy 10B def: "A congenital myopathy that is characterized by infantile- or childhood-onset myopathy, areflexia, dysphagia, and respiratory distress that usually requires nocturnal ventilation and that has_material_basis_in homozygous or compound heterozygous mutation in the MEGF10 gene on chromosome 5q23. Biallelic mutation in the MEGF10 gene also causes a more severe congenital myopathy with overlapping features. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29128256/ "DO"] synonym: "CMYO10B" EXACT [] synonym: "CMYP10B" EXACT [] synonym: "Congenital myopathy 10B, mild variant" EXACT [] synonym: "MYOPATHY, AREFLEXIA, RESPIRATORY DISTRESS, AND DYSPHAGIA, EARLY-ONSET, MILD VARIANT" EXACT [] xref: MIM:620249 xref: MONDO:0859515 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:28:07Z [Term] id: DOID:0081346 name: congenital myopathy 14 alt_id: DOID:9001348 def: "A congenital myopathy that is characterized by onset of severe muscle weakness apparent at birth and sometimes in utero and that has_material_basis_in homozygous mutation in the MYL1 gene on chromosome 2q32. Affected infants have difficulty breathing independently and usually require mechanical ventilation for variable lengths of time. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30215711/ "DO"] synonym: "CMYO14" EXACT [] synonym: "CMYP14" EXACT [] synonym: "Congenital Myopathy with Fast-Twitch (Type ii) Fiber Atrophy" EXACT [] synonym: "congenital myopathy with reduced type 2 muscle fibers" EXACT [] synonym: "MYOFTA" EXACT [] xref: MIM:618414 xref: MONDO:0034109 xref: ORDO:544602 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:913 ! atrophic muscular disease created_by: mtutaj creation_date: 2023-05-31T20:37:44Z [Term] id: DOID:0081347 name: congenital myopathy 15 alt_id: DOID:9006710 def: "A congenital myopathy that is characterized by symptom onset soon after birth and that has_material_basis_in heterozygous mutation in the TNNC2 gene on chromosome 20q13. Affected infants are hypotonic and have severe respiratory insufficiency and feeding problems, sometimes requiring mechanical ventilation or tube feeding. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33755597/ "DO"] synonym: "CMYO15" EXACT [] synonym: "CMYP15" EXACT [] synonym: "MYONRI" EXACT [] synonym: "MYOPATHY, CONGENITAL, WITH NEONATAL RESPIRATORY INSUFFICIENCY" EXACT [] xref: MIM:620161 xref: MONDO:0859335 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:11161 ! neonatal respiratory failure created_by: mtutaj creation_date: 2023-05-31T20:41:21Z [Term] id: DOID:0081348 name: congenital myopathy 16 alt_id: DOID:9004398 def: "A congenital myopathy that is characterized by onset of hypotonia and tremor in infancy and that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23. Patients have mildly delayed walking, unsteady gait, proximal muscle weakness, and a high-frequency tremor of the limbs. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31025394/ "DO"] synonym: "CMYO16" EXACT [] synonym: "CMYP16" EXACT [] synonym: "Congenital Myopathy with Tremor" EXACT [] synonym: "myogenic tremor" EXACT [] synonym: "MYOTREM" EXACT [] xref: MIM:618524 xref: MONDO:0032797 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:9000495 ! Tremor created_by: mtutaj creation_date: 2023-05-31T20:42:45Z [Term] id: DOID:0081349 name: congenital myopathy 17 alt_id: DOID:9009026 def: "A congenital myopathy that is characterized by hypotonia and respiratory insufficiency present at birth with associated with high diaphragmatic dome on imaging and that has_material_basis_in homozygous mutation in the MYOD1 gene on chromosome 11p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30403323/ "DO"] synonym: "CMYO17" EXACT [] synonym: "CMYP17" EXACT [] synonym: "congenital myopathy with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies" EXACT [] synonym: "MYODRIF" EXACT [] synonym: "MYOPATHY, CONGENITAL, DUE TO MYOD1 DEFICIENCY" EXACT [] xref: MIM:618975 xref: MONDO:0033548 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:11162 ! respiratory failure is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2023-05-31T20:43:59Z [Term] id: DOID:0081350 name: congenital myopathy 18 alt_id: DOID:9005248 def: "A congenital myopathy that is characterized by the onset of symptoms of muscle weakness in early childhood, including in utero and infancy and that has_material_basis_in compound heterozygous or heterozygous mutation in the CACNA1S gene on chromosome 1q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33060286/ "DO", https://pubmed.ncbi.nlm.nih.gov/34763287/ "DO"] synonym: "CMYO18" EXACT [] synonym: "CMYP18" EXACT [] synonym: "Congenital myopathy 18 due to dihydropyridine receptor defect" EXACT [] synonym: "DHPR CONGENITAL MYOPATHY" EXACT [] synonym: "DHPRM" EXACT [] synonym: "DIHYDROPYRIDINE RECEPTOR CONGENITAL MYOPATHY" EXACT [] synonym: "MYOPATHY, CONGENITAL, DUE TO DIHYDROPYRIDINE RECEPTOR DEFECT" EXACT [] xref: MIM:620246 xref: MONDO:0859514 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:45:32Z [Term] id: DOID:0081351 name: congenital myopathy 19 alt_id: DOID:9002481 def: "A congenital myopathy that is characterized by infantile-onset of progressive muscle weakness and atrophy associated with scoliosis, variably impaired walking, and dysmorphic facial features and that has_material_basis_in homozygous mutation in the PAX7 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31092906/ "DO"] synonym: "CMYO19" EXACT [] synonym: "CMYP19" EXACT [] synonym: "MYOSCO" EXACT [] synonym: "Progressive Congenital Myopathy with Scoliosis" EXACT [] xref: EFO:0010565 xref: MIM:618578 xref: MONDO:0032821 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060249 ! scoliosis is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:47:40Z [Term] id: DOID:0081352 name: congenital myopathy 20 alt_id: DOID:9006540 def: "A congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RYR3 gene on chromosome 15q13 and that shows wide phenotypic variability. Some patients present in early childhood with proximal muscle weakness affecting the lower and upper limbs resulting in difficulties running and climbing, whereas others present soon after birth with congenital limb or distal contractures. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29498452/ "DO", https://pubmed.ncbi.nlm.nih.gov/31230720/ "DO"] synonym: "CMYO20" EXACT [] synonym: "CMYP20" EXACT [] synonym: "RYR3-RELATED CONDITION" BROAD [] xref: MIM:620310 xref: MONDO:0957215 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T20:49:28Z [Term] id: DOID:0081353 name: congenital myopathy 21 alt_id: DOID:9001370 def: "A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36264506/ "DO", https://pubmed.ncbi.nlm.nih.gov/36344539/ "DO"] synonym: "CMYO21" EXACT [] synonym: "CMYP21" EXACT [] synonym: "Congenital Myopathy 21 with Early Respiratory Failure" EXACT [] xref: MIM:620326 xref: MONDO:0957224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:11162 ! respiratory failure created_by: mtutaj creation_date: 2023-05-31T20:58:21Z [Term] id: DOID:0081354 name: congenital myopathy 22A alt_id: DOID:9006585 def: "A congenital myopathy that is characterized by onset of muscle weakness in utero or soon after birth and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. Biallelic mutation in the SCN4A gene also causes severe fetal congenital myopathy 22B. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26700687/ "DO"] synonym: "CMYO22A" EXACT [] synonym: "CMYP22A" EXACT [] synonym: "Congenital Myopathy 22" BROAD [] synonym: "congenital myopathy 22A, classic" EXACT [] synonym: "SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE" BROAD [] xref: MIM:620351 xref: MONDO:0957247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T21:00:55Z [Term] id: DOID:0081355 name: congenital myopathy 22B def: "A congenital myopathy that is characterized by in utero onset of severe muscle weakness manifest as fetal akinesia and that has_material_basis_in homozygous or compound heterozygous mutation in the SCN4A gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26700687/ "DO"] synonym: "CMYO22B" EXACT [] synonym: "CMYP22B" EXACT [] synonym: "congenital myopathy 22B, severe fetal" EXACT [] synonym: "SCN4A-RELATED MYOPATHY, AUTOSOMAL RECESSIVE" BROAD [] xref: MIM:620369 xref: MONDO:0957265 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2023-05-31T21:18:58Z [Term] id: DOID:0081356 name: spinal muscular atrophy, Jokela type alt_id: DOID:9004598 def: "A spinal muscular atrophy that is characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36158221/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK304142/ "DO"] synonym: "SMAJ" EXACT [] xref: MIM:615048 xref: ORDO:276435 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy created_by: mtutaj creation_date: 2023-05-31T21:23:08Z [Term] id: DOID:0081357 name: isolated mitochondrial myopathy alt_id: DOID:9008878 def: "A mitochondrial myopathy that is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life and that has_material_basis_in heterozygous mutation in the CHCHD10 gene on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35700042/ "DO"] synonym: "Autosomal dominant mitochondrial myopathy with exercise intolerance" EXACT [] synonym: "IMMD" EXACT [] synonym: "MITOCHONDRIAL MYOPATHY, ISOLATED, AUTOSOMAL DOMINANT" EXACT [] xref: MIM:616209 xref: ORDO:457050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:699 ! mitochondrial myopathy created_by: mtutaj creation_date: 2023-05-31T21:25:16Z [Term] id: DOID:0081358 name: epidermolytic hyperkeratosis 1 alt_id: DOID:9006135 def: "An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11531804/ "DO"] synonym: "EHK1" EXACT [] xref: MIM:113800 xref: ORDO:312 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4603 ! epidermolytic hyperkeratosis created_by: mtutaj creation_date: 2023-05-31T21:27:10Z [Term] id: DOID:0081359 name: epidermolytic hyperkeratosis 2 alt_id: DOID:9004068 def: "An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19474805/ "DO"] synonym: "EHK2" EXACT [] synonym: "EHK2A" NARROW [] synonym: "EHK2B" NARROW [] synonym: "epidermolytic hyperkeratosis 2A, autosomal dominant" NARROW [] synonym: "epidermolytic hyperkeratosis 2B, autosomal recessive" NARROW [] xref: MIM:620150 xref: MIM:620707 is_a: DOID:4603 ! epidermolytic hyperkeratosis created_by: mtutaj creation_date: 2023-05-31T21:28:50Z [Term] id: DOID:0081360 name: spastic quadriplegic cerebral palsy 2 alt_id: DOID:9003517 alt_id: MIM:612900 def: "A spastic quadriplegic cerebral palsy that has_material_basis_in deletion of the ANKRD15 gene (KANK1) inherited on the paternal allele. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16301218/ "DO"] synonym: "CPSQ2" EXACT [] synonym: "KANK1-RELATED CONDITION" EXACT [] synonym: "KANK1- RELATED DISORDER" EXACT [] xref: MESH:C567867 is_a: DOID:10970 ! spastic quadriplegic cerebral palsy created_by: mtutaj creation_date: 2023-05-31T21:30:24Z [Term] id: DOID:0081361 name: spastic quadriplegic cerebral palsy 3 def: "A spastic quadriplegic cerebral palsy that has_material_basis_in homozygous mutation in the ADD3 gene on chromosome 10q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23836506/ "DO"] synonym: "CPSQ3" EXACT [] xref: MIM:617008 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy created_by: mtutaj creation_date: 2023-05-31T21:32:27Z [Term] id: DOID:0081362 name: Pierpont syndrome alt_id: DOID:9007450 alt_id: MIM:602342 def: "An autosomal dominant intellectual developmental disorder that is characterized by distinctive facial characteristics, especially when smiling, plantar fat pads, and other limb anomalies and that has_material_basis_in heterozygous mutation in the TBL1XR1 gene on chromosome 3q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26769062/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC8077337/ "DO"] synonym: "Plantar lipomatosis-facial dysmorphism-developmental delay syndrome" EXACT [] synonym: "Plantar lipomatosis, unusual facies, and developmental delay" EXACT [] synonym: "Plantar lipomatosis-unusual facies-developmental delay syndrome" EXACT [] synonym: "PRPTS" EXACT [] synonym: "TBL1XR1-RELATED CONDITION" BROAD [] synonym: "TBL1XR1-RELATED DISORDER" BROAD [] synonym: "TBL1XR1-RELATED NEURODEVELOPMENTAL DISORDERS, INCLUDING PIERPONT SYNDROME" BROAD [] xref: MESH:C566559 xref: ORDO:487825 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome is_a: DOID:3153 ! lipomatosis is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-05-31T21:37:20Z [Term] id: DOID:0081363 name: distal myopathy with rimmed vacuoles def: "A distal myopathy that is characterized by adult onset of muscle weakness affecting the distal upper and lower limbs, which may result in walking difficulties, as well as proximal weakness of the shoulder girdle muscles and that has_material_basis_in by heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25114083/ "DO", https://pubmed.ncbi.nlm.nih.gov/26208961/ "DO", https://pubmed.ncbi.nlm.nih.gov/33125541/ "DO", https://pubmed.ncbi.nlm.nih.gov/37188302/ "DO", https://pubmed.ncbi.nlm.nih.gov/37205240/ "DO"] synonym: "distal myopathy, with or without rimmed vacuoles" EXACT [] xref: MIM:617158 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy created_by: mtutaj creation_date: 2023-05-31T21:39:39Z [Term] id: DOID:0081364 name: neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset alt_id: DOID:9005240 def: "A neurodegenerative disease that is characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades and that has_material_basis_in homozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27545679/ "DO"] synonym: "NADGP" EXACT [] xref: MIM:617145 is_a: DOID:1289 ! neurodegenerative disease created_by: mtutaj creation_date: 2023-05-31T21:45:58Z [Term] id: DOID:0081365 name: Paget's disease of bone 2 alt_id: DOID:9003060 def: "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the TNFRSF11A gene, which encodes RANK, on chromosome 18q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24988994/ "DO"] synonym: "Paget disease of bone-2" EXACT [] synonym: "Paget Disease of Bone 2, Early-Onset" EXACT [] synonym: "PDB2" EXACT [] xref: MIM:602080 xref: MONDO:0011183 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-05-31T21:48:46Z [Term] id: DOID:0081366 name: Paget's disease of bone 3 alt_id: DOID:9007946 def: "A Paget's disease of bone that has_material_basis_in heterozygous mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24988994/ "DO"] synonym: "Paget Disease of Bone 3" EXACT [] synonym: "PDB3" EXACT [] xref: MIM:167250 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-06-01T14:01:37Z [Term] id: DOID:0081367 name: Paget's disease of bone 4 alt_id: DOID:9006119 alt_id: MIM:606263 def: "A Paget's disease of bone that has_material_basis_in linkage to the 5q31 region within 12.2 cM, between D5S642 and D5S1972. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11473345/ "DO"] synonym: "Paget Disease of Bone 4" EXACT [] synonym: "PDB4" EXACT [] xref: MESH:C565240 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-06-01T14:03:53Z [Term] id: DOID:0081368 name: Paget's disease of bone 5 alt_id: DOID:9005421 alt_id: MIM:239000 def: "A Paget's disease of bone that is characterized by short stature, progressive long bone deformities, fractures, vertebral collapse, skull enlargement, and hyperostosis with progressive deafness and that has_material_basis_in osteoprotegerin deficiency caused by homozygous or compound heterozygous mutation in the TNFRSF11B gene on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25108083/ "DO"] synonym: "chronic congenital idiopathic hyperphosphatasemia" EXACT [] synonym: "elevated alkaline phosphatase" BROAD [] synonym: "familial idiopathic hyperphosphatasemia" EXACT [] synonym: "familial idiopathic hyperphosphatasia" EXACT [] synonym: "familial osteoectasia" EXACT [] synonym: "Hereditary hyperphosphatasia" EXACT [] synonym: "hyperostosis corticalis deformans juvenilis" EXACT [] synonym: "hyperphosphatasemia with bone disease" EXACT [] synonym: "Idiopathic Hyperphosphatasia" EXACT [] synonym: "JPD" EXACT [] synonym: "juvenile Paget's disease" EXACT [] synonym: "juvenile Paget disease" EXACT [] synonym: "osteochalasia desmalis familiaris" EXACT [] synonym: "osteoectasia with hyperphosphatasia" EXACT [] synonym: "Paget disease of bone-5" EXACT [] synonym: "Paget Disease of Bone 5, Juvenile-Onset" EXACT [] synonym: "PDB5" EXACT [] xref: GARD:2831 xref: MESH:C537701 xref: NCI:C131861 xref: ORDO:2801 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-06-01T14:05:18Z [Term] id: DOID:0081369 name: Paget's disease of bone 6 alt_id: DOID:9001120 def: "A Paget's disease of bone that is characterized by adult onset of bone pain associated with polyostotic bone lesions primarily affecting the axial skeleton and that has_material_basis_in heterozygous mutation in the ZNF687 gene on chromosome 1q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26849110/ "DO"] synonym: "Paget Disease of Bone 6" EXACT [] synonym: "PDB6" EXACT [] xref: MIM:616833 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:5408 ! Paget's disease of bone created_by: mtutaj creation_date: 2023-06-01T14:07:09Z [Term] id: DOID:0081370 name: LADD syndrome def: "A syndrome that is characterized by defects in the tear-producing lacrimal system, ear problems, dental abnormalities, and deformities of the fingers. (DO)" [https://medlineplus.gov/genetics/condition/lacrimo-auriculo-dento-digital-syndrome/ "DO"] synonym: "Lacrimo-auriculo-dento-digital (LADD) syndrome" EXACT [] synonym: "lacrimoauriculodentodigital syndrome" EXACT [] synonym: "LADD" EXACT [] synonym: "Levy Hollister syndrome" EXACT [] xref: MESH:C538132 xref: MIM:PS149730 xref: ORDO:2363 is_a: DOID:11193 ! syndactyly is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:225 ! syndrome is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities created_by: mtutaj creation_date: 2023-06-29T19:45:51Z [Term] id: DOID:0081371 name: lacrimoauriculodentodigital syndrome 2 alt_id: DOID:9002835 def: "A LADD syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR3 gene on chromosome 4p16 and that is mainly affecting lacrimal glands and ducts, salivary glands and ducts, ears, teeth, and distal limb segments. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16501574/ "DO"] synonym: "Lacrimo-auriculo-dento-digital syndrome 2" EXACT [] synonym: "LADD2" EXACT [] synonym: "LADD Syndrome 2" EXACT [] xref: MIM:620192 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081370 ! LADD syndrome created_by: mtutaj creation_date: 2023-06-29T22:07:31Z [Term] id: DOID:0081372 name: lacrimoauriculodentodigital syndrome 3 alt_id: DOID:9008206 def: "A LADD syndrome that is characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems, cup-shaped ears, hearing loss, and dental and digital anomalies and that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16630169/ "DO"] synonym: "Lacrimo-auriculo-dento-digital syndrome 3" EXACT [] synonym: "LADD3" EXACT [] synonym: "LADD Syndrome 3" EXACT [] xref: MIM:620193 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081370 ! LADD syndrome created_by: mtutaj creation_date: 2023-06-29T22:09:45Z [Term] id: DOID:0081373 name: disabling pansclerotic morphea alt_id: DOID:0080002 def: "A localized scleroderma that is characterized by the rapid progression of deep cutaneous fibrosis or pansclerosis that involves the subcutaneous adipose tissue and, occasionally, the fascia, muscles, and bone. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30838436/ "DO", https://pubmed.ncbi.nlm.nih.gov/37256972/ "DO"] synonym: "disabling pansclerotic morphea of childhood" EXACT [] synonym: "juvenile localized scleroderma" EXACT [] synonym: "STAT4-RELATED CONDITION" BROAD [] xref: MIM:620443 is_a: DOID:8472 ! localized scleroderma created_by: mtutaj creation_date: 2023-08-08T09:03:21Z [Term] id: DOID:0081374 name: nemaline myopathy 5B alt_id: DOID:0080003 def: "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13, with childhood onset. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35165004/ "DO"] synonym: "NEM5B" EXACT [] synonym: "NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET" EXACT [] xref: MIM:620386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy created_by: mtutaj creation_date: 2023-08-08T09:09:04Z [Term] id: DOID:0081375 name: nemaline myopathy 5C alt_id: DOID:0080004 def: "A nemaline myopathy that has_material_basis_in autosomal dominant inheritance of a homozygous or compound heterozygous mutation in the TNNT1 gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35510366/ "DO"] synonym: "NEM5C" EXACT [] synonym: "NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT" EXACT [] xref: MIM:620389 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3191 ! nemaline myopathy created_by: mtutaj creation_date: 2023-08-08T09:11:06Z [Term] id: DOID:0081377 name: COX deficiency, benign infantile mitochondrial myopathy alt_id: DOID:0080035 def: "A cytochrome-c oxidase deficiency disease characterized by localization to tissues of the skeletal muscles. (DO)" [https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO"] synonym: "isolated cytochrome C oxidase deficiency" EXACT [] xref: GARD:48 xref: ORDO:254905 is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease created_by: mtutaj creation_date: 2023-08-08T09:14:16Z [Term] id: DOID:0081378 name: amyotrophic lateral sclerosis type 24 alt_id: DOID:9009135 def: "An amyotrophic lateral sclerosis that is characterized by adult-onset loss of motor neurons and that has_material_basis_in heterozygous mutation in the NEK1 gene on chromosome 4q33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26945885/ "DO"] synonym: "ALS24" EXACT [] synonym: "amyotrophic lateral sclerosis 24" EXACT [] synonym: "NEK1-RELATED CONDITION" BROAD [] synonym: "susceptibility to amyotrophic lateral sclerosis-24" RELATED [] xref: MIM:617892 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2023-10-23T10:46:43Z [Term] id: DOID:0081379 name: amyotrophic lateral sclerosis type 25 alt_id: DOID:9009136 def: "An amyotrophic lateral sclerosis that is characterized by rapidly progressive muscle weakness and death due to respiratory failure and that has_material_basis_in heterozygous mutation in the KIF5A gene on chromosome 12q13. ALS25 may have a lower median age at onset (46.5 years) and longer median survival (10 years) than that found in epidemiologic studies (62.5 years and 20 to 30 months, respectively). (DO)" [https://pubmed.ncbi.nlm.nih.gov/29566793/ "DO"] synonym: "ALS25" EXACT [] synonym: "amyotrophic lateral sclerosis 25" EXACT [] synonym: "KIF5A-related amyotrophic lateral sclerosis" EXACT [] synonym: "susceptibility to amyotrophic lateral sclerosis-25" RELATED [] xref: MIM:617921 xref: NCI:C189922 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2023-10-23T10:46:57Z [Term] id: DOID:0081380 name: amyotrophic lateral sclerosis type 26 alt_id: DOID:9004406 def: "An amyotrophic lateral sclerosis that is characterized by adult onset of upper and low motor neuron disease causing bulbar dysfunction and limb weakness and that has_material_basis_in heterozygous mutation in the TIA1 gene on chromosome 2p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28817800/ "DO"] synonym: "ALS26" EXACT [] synonym: "amyotrophic lateral sclerosis 26" EXACT [] synonym: "amyotrophic lateral sclerosis-26 with or without frontotemporal dementia" EXACT [] xref: MIM:619133 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2023-10-23T10:47:14Z [Term] id: DOID:0081381 name: juvenile amyotrophic lateral sclerosis type 27 alt_id: DOID:9005364 def: "An amyotrophic lateral sclerosis that is characterized by early childhood-onset lower extremity spasticity manifesting as toe walking and gait abnormalities, followed by progressive lower motor neuron-mediated weakness without sensory signs or symptoms and that has_material_basis_in heterozygous mutation in the SPTLC1 gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34059824/ "DO"] synonym: "ALS27" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS 27, JUVENILE" EXACT [] synonym: "amyotrophic lateral sclerosis type 27" EXACT [] xref: MIM:620285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis created_by: mtutaj creation_date: 2023-10-23T10:47:27Z [Term] id: DOID:0081382 name: amyotrophic lateral sclerosis type 28 alt_id: DOID:9007566 def: "An amyotrophic lateral sclerosis that is characterized by adult onset of slowly progressive limb muscle weakness and atrophy resulting in gait difficulties, loss of ambulation, and distal upper limb weakness and that has_material_basis_in a heterozygous trinucleotide repeat expansion (CGG) in the 5-prime untranslated region of the LRP12 gene on chromosome 8q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37339631/ "DO"] synonym: "ALS28" EXACT [] synonym: "amyotrophic lateral sclerosis 28" EXACT [] xref: MIM:620452 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: mtutaj creation_date: 2023-10-23T10:47:39Z [Term] id: DOID:0081383 name: ataxia-oculomotor apraxia type 4 alt_id: DOID:9004565 def: "An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25728773/ "DO"] synonym: "AOA4" EXACT [] synonym: "Ataxia-Oculomotor Apraxia 4" EXACT [] synonym: "Ataxia with Oculomotor Apraxia Type 4" EXACT [] xref: EFO:0009016 xref: GARD:13111 xref: MIM:616267 xref: ORDO:459033 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:0060135 ! apraxia is_a: DOID:12704 ! ataxia telangiectasia is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2023-11-30T15:30:18Z [Term] id: DOID:0081384 name: ataxia-telangiectasia-like disorder-1 alt_id: DOID:9007720 def: "An autosomal recessive cerebellar ataxia that is characterized clinically by progressive cerebellar degeneration resulting in ataxia and oculomotor apraxia and that has_material_basis_in homozygous or compound heterozygous mutation in the MRE11A gene (MRE11) on chromosome 11q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10612394/ "DO"] synonym: "ATLD1" EXACT [] synonym: "MRE11-RELATED CONDITION" EXACT [] xref: MIM:604391 xref: NCI:C132224 xref: ORDO:251347 is_a: DOID:9004583 ! Ataxia Telangiectasia Like Disorder created_by: mtutaj creation_date: 2023-11-30T15:32:12Z [Term] id: DOID:0081385 name: ataxia-telangiectasia-like disorder-2 alt_id: DOID:9002196 def: "An autosomal recessive cerebellar ataxia that is characterized by developmental delay, ataxia, and sensorineural hearing loss and that has_material_basis_in homozygous mutation in the PCNA gene on chromosome 20p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24911150/ "DO"] synonym: "ATLD2" EXACT [] synonym: "PCNA-related progressive neurodegenerative photosensitivity syndrome" EXACT [] xref: MIM:615919 xref: MONDO:0014399 xref: ORDO:438134 is_a: DOID:9004583 ! Ataxia Telangiectasia Like Disorder created_by: mtutaj creation_date: 2023-11-30T15:34:16Z [Term] id: DOID:0081386 name: TANGO2-related metabolic encephalopathy and arrythmias alt_id: DOID:9005324 def: "A syndrome that is characterized by episodic metabolic degeneration affecting skeletal muscle, cardiac muscle, and the nervous system and that has_material_basis_in homozygous or compound heterozygous mutation in the TANGO2 gene on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26805782/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK476443/ "DO"] synonym: "MECRCN" EXACT [] synonym: "METABOLIC CRISES, RECURRENT, WITH RHABDOMYOLYSIS, CARDIAC ARRHYTHMIAS, AND NEURODEGENERATION" EXACT [] synonym: "recurrent metabolic encephalomyopathic crises associated with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration" EXACT [] synonym: "Recurrent Metabolic Encephalomyopathic Crises with Rhabdomyolysis, Cardiac Arrhythmias, and Neurodegeneration" EXACT [] synonym: "TANGO2 deficiency" EXACT [] synonym: "TANGO2-RELATED CONDITION" EXACT [] xref: GARD:13423 xref: MIM:616878 xref: ORDO:480864 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2367 ! neuroaxonal dystrophy is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9000884 ! Rhabdomyolysis is_a: DOID:9005627 ! Metabolic Brain Diseases created_by: mtutaj creation_date: 2023-11-30T15:36:25Z [Term] id: DOID:0081387 name: neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities alt_id: DOID:9000593 def: "An autosomal recessive intellectual developmental disorder that is characterized by the onset of features in infancy or early childhood and that has_material_basis_in homozygous or compound heterozygous mutation in the INTS11 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37054711/ "DO"] synonym: "NEDMLOB" EXACT [] xref: MIM:620428 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2023-11-30T15:38:52Z [Term] id: DOID:0081388 name: primary progressive aphasia alt_id: DOID:9008293 def: "A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21325651/ "DO", https://pubmed.ncbi.nlm.nih.gov/29392464/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6993834/ "DO"] synonym: "Mesulam's Syndrome" EXACT [] synonym: "Mesulam Syndrome" EXACT [] synonym: "Primary Progressive Aphasias" EXACT [] synonym: "Primary Progressive Aphasia, Susceptibility To" RELATED [] xref: EFO:0009053 xref: GARD:8541 xref: MESH:D018888 xref: ORDO:95432 is_a: DOID:0060046 ! aphasia is_a: DOID:9255 ! frontotemporal dementia created_by: mtutaj creation_date: 2023-11-30T15:41:04Z [Term] id: DOID:0081389 name: logopenic progressive aphasia def: "A primary progressive aphasia that is characterized by language disturbance, including difficulty making or understanding speech. It is a type of primary progressive aphasia. Affected individuals have slow, hesitant speech due to difficulty retrieving the correct words, names, or numbers. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21325651/ "DO"] synonym: "Logopenic primary progressive aphasia" EXACT [] synonym: "logopenic variant PPA" EXACT [] xref: GARD:10791 xref: ORDO:250831 is_a: DOID:0081388 ! primary progressive aphasia created_by: mtutaj creation_date: 2023-11-30T15:43:47Z [Term] id: DOID:0081390 name: progressive non-fluent aphasia alt_id: DOID:9003457 def: "A primary progressive aphasia that is characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32047619/ "DO"] synonym: "Agramatic variant of primary progressive aphasia" EXACT [] synonym: "nonfluent agrammatic PPA" EXACT [] synonym: "Non fluent Primary Progressive Aphasia" EXACT [] synonym: "PPA Syndrome" EXACT [] synonym: "PPA Syndromes" EXACT [] synonym: "Primary Progressive Nonfluent Aphasia" EXACT [] synonym: "Progressive Nonfluent Aphasia" EXACT [] synonym: "Progressive Nonfluent Aphasias" EXACT [] xref: GARD:10793 xref: MESH:D057178 xref: ORDO:100070 is_a: DOID:0081388 ! primary progressive aphasia is_a: DOID:9002031 ! Frontotemporal Lobar Degeneration created_by: mtutaj creation_date: 2023-11-30T15:46:15Z [Term] id: DOID:0081391 name: semantic dementia def: "A primary progressive aphasia that is characterized by the progressive, amodal and profound loss of semantic knowledge and behavioral abnormalities, attributable to the degeneration of the anterior temporal lobes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28019640/ "DO"] synonym: "semantic variant of primary progressive aphasia" EXACT [] synonym: "semantic variant PPA" EXACT [] xref: GARD:10792 xref: ORDO:100069 is_a: DOID:0081388 ! primary progressive aphasia created_by: mtutaj creation_date: 2023-11-30T15:48:10Z [Term] id: DOID:0081392 name: corticobasal degeneration syndrome def: "A frontotemporal dementia that characterized by the loss of cognitive functions such as the ability to think, remember, or reason to the point that it interferes with a person's daily life and activities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34316603/ "DO"] xref: ORDO:454887 is_a: DOID:9255 ! frontotemporal dementia created_by: mtutaj creation_date: 2023-11-30T15:50:11Z [Term] id: DOID:0081393 name: organophosphate-induced delayed polyneuropathy def: "An inflammatory and toxic neuropathy that is characaterized by a collection of neuropsychological symptoms associated with repeated organophosphate pesticide exposure as well as nerve agent exposure. Symptoms can appear weeks after exposure and include muscle weakness, anxiety, depression, psychosis as well as cognitive and memory deficits. (DO)" [https://www.atsdr.cdc.gov/csem/cholinesterase-inhibitors/neuropathy.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/16042503 "DO"] is_a: DOID:2537 ! inflammatory and toxic neuropathy created_by: mtutaj creation_date: 2023-11-30T15:51:28Z [Term] id: DOID:0081394 name: Caroli syndrome def: "A syndrome that is characterized by the presence of associated congenital hepatic fibrosis and that is associated with autosomal recessive polycystic kidney disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29643536/ "DO", https://pubmed.ncbi.nlm.nih.gov/30020679/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK513307/ "DO"] synonym: "Caroli's syndrome" EXACT [] xref: GARD:6002 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:272 ! hepatic vascular disease is_a: DOID:4138 ! bile duct disease is_a: DOID:866 ! vein disease created_by: mtutaj creation_date: 2023-11-30T15:52:46Z [Term] id: DOID:0081395 name: Harel-Yoon syndrome alt_id: DOID:9006186 def: "A syndrome that is characterized by delayed psychomotor development, intellectual disability, truncal hypotonia, spasticity, and peripheral neuropathy and that has_material_basis_in heterozygous mutation in the ATAD3A gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27640307/ "DO"] synonym: "HAYOS" EXACT [] synonym: "Ocular anomalies-axonal neuropathy-developmental delay syndrome" EXACT [] xref: MIM:617183 xref: ORDO:496790 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008514 ! Psychomotor Disorders created_by: mtutaj creation_date: 2023-12-20T21:04:43Z [Term] id: DOID:0081396 name: neonatal lethal pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome alt_id: DOID:9000870 def: "A syndrome that is characterized in infants showing respiratory insufficiency and almost no spontaneous movement at birth, usually requiring mechanical ventilation and admission to the neonatal intensive care unit and that has_material_basis_in compound heterozygous mutation in the ATAD3A gene on chromosome 1p36.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28549128/ "DO"] synonym: "PHRINL" EXACT [] synonym: "PHRINL SYNDROME" EXACT [] xref: MIM:618810 xref: ORDO:615983 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia is_a: DOID:11162 ! respiratory failure is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2023-12-20T21:06:57Z [Term] id: DOID:0081397 name: Vissers-Bodmer syndrome alt_id: DOID:9004008 def: "A syndrome that is characterized by global developmental delay with variably impaired intellectual development, speech delay, motor delay, and behavioral abnormalities apparent from infancy and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32553196/ "DO"] synonym: "CNOT1-RELATED DISORDER" BROAD [] synonym: "VIBOS" EXACT [] xref: MIM:619033 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:92 ! speech disorder created_by: mtutaj creation_date: 2023-12-20T21:09:50Z [Term] id: DOID:0081398 name: holoprosencephaly 12 alt_id: DOID:9004991 def: "A holoprosencephaly that is characterized by abnormal separation of the embryonic forebrain resulting in dysmorphic facial features and often, but not always, impaired neurologic development and that has_material_basis_in heterozygous mutation in the CNOT1 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31006510/ "DO"] synonym: "CNOT1-RELATED DISORDER" BROAD [] synonym: "holoprosencephaly 12, with or without pancreatic agenesis" EXACT [] synonym: "HPE12" EXACT [] xref: MIM:618500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly created_by: mtutaj creation_date: 2023-12-20T21:11:44Z [Term] id: DOID:0081399 name: autosomal dominant distal hereditary motor neuronopathy 10 alt_id: DOID:9000162 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized clinically by length-dependent motor neuropathy primarily affecting the lower limbs and that has_material_basis_in heterozygous mutation in the EMILIN1 gene on chromosome 2p23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31978608/ "DO"] synonym: "DHMN10" EXACT [] synonym: "Distal Hereditary Motor Neuronopathy Type 10" EXACT [] synonym: "distal hereditary motor neuronopathy type X" EXACT [] synonym: "distal hereditary motor neuropathy 10" EXACT [] synonym: "distal hereditary motor neuropathy type X" EXACT [] synonym: "EMILIN-1-RELATED DISEASE" EXACT [] synonym: "HMN10" EXACT [] synonym: "HMND10" EXACT [] xref: MIM:620080 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T11:34:23Z [Term] id: DOID:0081400 name: autosomal dominant distal hereditary motor neuronopathy 11 alt_id: DOID:9005325 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by juvenile or young-adult onset of distal limb muscle weakness and atrophy mainly affecting the lower limbs, resulting in gait instability and walking difficulties and that has_material_basis_in heterozygous mutation in the SPTAN1 gene on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33206935/ "DO"] synonym: "DHMN11" EXACT [] synonym: "distal hereditary motor neuronopathy 11" EXACT [] synonym: "distal hereditary motor neuropathy type 11" EXACT [] synonym: "HMND11" EXACT [] xref: MIM:620528 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T11:37:21Z [Term] id: DOID:0081401 name: autosomal dominant distal hereditary motor neuronopathy 13 alt_id: DOID:9006235 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by distal muscle weakness and atrophy affecting both the upper and lower limbs, resulting in difficulty walking and poor fine hand motor skills and that has_material_basis_in heterozygous mutation in the BSCL2 gene on chromosome 11q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20806400/ "DO"] synonym: "DHMN5C" EXACT [] synonym: "DHMN VC" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VC" EXACT [] synonym: "Distal Hereditary Motor Neuronopathy Type 5C" EXACT [] synonym: "distal hereditary motor neuronopathy type VC" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VC" EXACT [] synonym: "distal hereditary motor neuropathy type VC" EXACT [] synonym: "distal spinal muscular atrophy, Harding type VC" EXACT [] synonym: "distal spinal muscular atrophy type 5C" EXACT [] synonym: "distal spinal muscular atrophy type VC" EXACT [] synonym: "DSMA5C" EXACT [] synonym: "DSMAVC" EXACT [] synonym: "HMN5C" EXACT [] synonym: "HMND13" EXACT [] xref: MIM:619112 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T11:43:35Z [Term] id: DOID:0081402 name: sarcoma with BCOR genetic alterations def: "A small cell sarcoma that is characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm and the presence of BCOR genetic alterations. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35730501/ "DO", https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"] synonym: "BCOR-Rearranged Sarcoma" EXACT [] xref: ICDO:9368/3 xref: NCI:C178465 is_a: DOID:3098 ! small cell sarcoma created_by: mtutaj creation_date: 2024-01-31T11:46:26Z [Term] id: DOID:0081403 name: BCOR ITD sarcoma def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR internal tandem duplication. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"] xref: NCI:C178468 is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations created_by: mtutaj creation_date: 2024-01-31T11:47:23Z [Term] id: DOID:0081404 name: BCOR-CCNB3 sarcoma def: "A sarcoma with BCOR genetic alterations that is characterized by the presence of BCOR-CCNB3 fusion gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"] xref: NCI:C178466 is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations created_by: mtutaj creation_date: 2024-01-31T11:48:21Z [Term] id: DOID:0081405 name: childhood sarcoma with BCOR genetic alterations def: "A sarcoma with BCOR genetic alterations that occurs during childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"] xref: NCI:C189007 is_a: DOID:0081402 ! sarcoma with BCOR genetic alterations created_by: mtutaj creation_date: 2024-01-31T11:49:10Z [Term] id: DOID:0081406 name: round cell sarcoma with EWSR1-non-ETS fusion def: "A small cell sarcoma that is characterized by the presence of EWSR1 or FUS fusions involving partners unrelated to the ETS gene family. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35430129/ "DO"] synonym: "Ewing-Like Sarcoma or Round Cell Sarcoma" EXACT [] xref: ICDO:9366/3 xref: NCI:C178459 is_a: DOID:3098 ! small cell sarcoma created_by: mtutaj creation_date: 2024-01-31T11:49:53Z [Term] id: DOID:0081407 name: childhood round cell sarcoma with EWSR1-non-ETS fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by EWSR1-non-ETS fusion that occurs during childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO"] xref: NCI:C189003 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion created_by: mtutaj creation_date: 2024-01-31T11:50:50Z [Term] id: DOID:0081408 name: round cell sarcoma with EWSR1-NFATC2 gene fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-NFATC2 gene fusion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35430129/ "DO"] xref: NCI:C178460 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion created_by: mtutaj creation_date: 2024-01-31T11:51:39Z [Term] id: DOID:0081409 name: round cell sarcoma with EWSR1-PATZ1 gene fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of EWSR1-PATZ1 gene fusion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30379650/ "DO"] xref: NCI:C178461 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion created_by: mtutaj creation_date: 2024-01-31T11:52:38Z [Term] id: DOID:0081410 name: round cell sarcoma with FUS-NFATC2 gene fusion def: "A round cell sarcoma with EWSR1-non-ETS fusion that is characterized by the presence of FUS-NFATC2 gene fusion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31078563/ "DO"] xref: NCI:C178462 is_a: DOID:0081406 ! round cell sarcoma with EWSR1-non-ETS fusion created_by: mtutaj creation_date: 2024-01-31T11:53:27Z [Term] id: DOID:0081411 name: B acute lymphoblastic leukemia with PAX5 P80R mutation def: "A B-lymphoblastic leukemia/lymphoma that is associated with PAX5 P80R mutation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30510083/ "DO", https://pubmed.ncbi.nlm.nih.gov/32463891/ "DO", https://pubmed.ncbi.nlm.nih.gov/36241730/ "DO"] xref: NCI:C199260 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-01-31T11:54:15Z [Term] id: DOID:0081412 name: B acute lymphoblastic leukemia with DUX4 rearrangement def: "A B lymphoblastic leukemia/lymphoma that is associated with DUX4 gene rearrangement. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36602820/ "DO"] xref: NCI:C199232 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma created_by: mtutaj creation_date: 2024-01-31T11:55:11Z [Term] id: DOID:0081413 name: renal cell carcinoma with MiT translocations def: "A renal cell carcinoma that is characterized by papillary, alveolar and nested growth patterns with clear and eosinophilic cells and that is associated with translocations/gene fusions involving members of the MiT family of transcription factors. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25758327/ "DO", https://pubmed.ncbi.nlm.nih.gov/31382581/ "DO", https://pubmed.ncbi.nlm.nih.gov/36672892/ "DO", https://pubmed.ncbi.nlm.nih.gov/37060647/ "DO"] synonym: "MiT Family Translocation-Associated Renal Cell Carcinoma" EXACT [] synonym: "MiT family translocation renal cell carcinoma" EXACT [] xref: ICDO:8311/3 xref: NCI:C154494 is_a: DOID:4450 ! renal cell carcinoma created_by: mtutaj creation_date: 2024-01-31T11:56:04Z [Term] id: DOID:0081414 name: TFEB-rearranged renal cell carcinoma def: "A renal cell carcinoma with MiT translocations that is characterized by the presence of the chromosomal translocation t(6;11) which fuses the TFEB transcription factor gene, located on chromosome 6, with the MALAT1 gene, located on chromosome 11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36830782/ "DO"] synonym: "Renal Cell Carcinoma with t(6;11);(p21;q12); MALAT1::TFEB" EXACT [] synonym: "t(6;11);(p21;q12) Renal Cell Carcinoma" EXACT [] synonym: "t(6;11) Renal Cell Carcinoma" EXACT [] xref: NCI:C37210 is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations created_by: mtutaj creation_date: 2024-01-31T11:57:03Z [Term] id: DOID:0081415 name: TFE3-rearranged renal cell carcinoma def: "A renal cell carcinoma with MiT translocations that is characterized by the presence of different translocations involving the chromosome Xp11.2 and that result in the creation of gene fusions involving the TFE3 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38104891/ "DO"] synonym: "Renal Cell Carcinoma Associated with Xp11.2 Translocations/TFE3 Gene Fusions" EXACT [] synonym: "Xp11 Translocation Renal Cell Carcinoma" EXACT [] xref: EFO:1000508 xref: NCI:C27891 is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations created_by: mtutaj creation_date: 2024-01-31T11:57:55Z [Term] id: DOID:0081416 name: childhood renal cell carcinoma with MiT translocations def: "A renal cell carcinoma with MiT translocations that is characterized by a TFE3 or TFEB-rearranged renal cell carcinoma that occurs during childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37528880/ "DO"] xref: NCI:C189242 is_a: DOID:0081413 ! renal cell carcinoma with MiT translocations created_by: mtutaj creation_date: 2024-01-31T11:58:44Z [Term] id: DOID:0081417 name: poorly differentiated chordoma def: "A chordoma that is characterized by loss of SMARCB1 expression and that is composed of sheets or nests of malignant epithelioid cells with abundant eosinophilic cytoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29483606/ "DO", https://pubmed.ncbi.nlm.nih.gov/34482218/ "DO"] xref: ICDO:9370/3 xref: NCI:C177898 is_a: DOID:3302 ! chordoma created_by: mtutaj creation_date: 2024-01-31T11:59:30Z [Term] id: DOID:0081418 name: anaplastic sarcoma of the kidney def: "A kidney sarcoma that is characterized by a proliferation of anaplastic spindle cells with bizarre, pleomorphic nuclei and atypical mitotic figures. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17895746/ "DO", https://pubmed.ncbi.nlm.nih.gov/27006300/ "DO", https://pubmed.ncbi.nlm.nih.gov/28862265/ "DO"] xref: ICDO:8802/3 xref: NCI:C154496 is_a: DOID:4242 ! kidney sarcoma created_by: mtutaj creation_date: 2024-01-31T12:00:28Z [Term] id: DOID:0081419 name: childhood-onset dystonia with optic atrophy and basal ganglia abnormalities alt_id: DOID:9003458 def: "A dystonia that is characterized by characterized by onset of involuntary movements in the first decade of life and that has_material_basis_in homozygous or compound heterozygous mutation in the MECR gene on chromosome 1p35. Optic atrophy develops around the same time or slightly later. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27817865/ "DO"] synonym: "DYSTONIA 29, CHILDHOOD-ONSET" EXACT [] synonym: "DYT29" EXACT [] synonym: "DYTOABG" EXACT [] synonym: "MECR-related neurologic disorder" EXACT [] synonym: "MEPAN syndrome" EXACT [] synonym: "Mitochondrial Enoyl CoA Reductase Protein-Associated Neurodegeneration" EXACT [] xref: GARD:13488 xref: MIM:617282 xref: ORDO:508093 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia is_a: DOID:5723 ! optic atrophy is_a: DOID:679 ! basal ganglia disease created_by: mtutaj creation_date: 2024-01-31T12:01:39Z [Term] id: DOID:0081420 name: familial focal epilepsy with variable foci def: "A focal epilepsy that is characterized by focal seizures, with seizure onset in a discrete area of the brain including the temporal, frontal, parietal, and occipital lobes, with focal seizures arising from different cortical regions in different family members. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK385626/ "DO"] synonym: "DEPDC5-related epilepsy" EXACT [] synonym: "FFEVF" EXACT [] synonym: "FPEVF" EXACT [] xref: GARD:13295 xref: MIM:PS604364 xref: ORDO:98820 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2234 ! focal epilepsy created_by: mtutaj creation_date: 2024-01-31T12:04:22Z [Term] id: DOID:0081421 name: familial focal epilepsy with variable foci 1 alt_id: DOID:9001601 alt_id: MIM:604364 def: "A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32848577/ "DO"] synonym: "DEPDC5-related disorder" BROAD [] synonym: "FFEVF1" EXACT [] synonym: "partial epilepsy with variable foci" EXACT [] xref: MESH:C565785 xref: NCI:C161005 is_a: DOID:0081420 ! familial focal epilepsy with variable foci created_by: mtutaj creation_date: 2024-01-31T12:06:30Z [Term] id: DOID:0081422 name: familial focal epilepsy with variable foci 2 alt_id: DOID:9000342 def: "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL2 gene on chromosome 3p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26505888/ "DO"] synonym: "FFEVF2" EXACT [] synonym: "NPRL2-RELATED CONDITION" EXACT [] xref: MIM:617116 is_a: DOID:0081420 ! familial focal epilepsy with variable foci created_by: mtutaj creation_date: 2024-01-31T12:06:44Z [Term] id: DOID:0081423 name: familial focal epilepsy with variable foci 3 alt_id: DOID:9006565 def: "A familial focal epilepsy with variable foci that has_material_basis_in heterozygous mutation in the NPRL3 gene on chromosome 16p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26505888/ "DO"] synonym: "FFEVF3" EXACT [] synonym: "NPRL3-RELATED CONDITION" EXACT [] xref: MIM:617118 is_a: DOID:0081420 ! familial focal epilepsy with variable foci created_by: mtutaj creation_date: 2024-01-31T12:06:53Z [Term] id: DOID:0081424 name: familial focal epilepsy with variable foci 4 alt_id: DOID:9009166 def: "A familial focal epilepsy with variable foci that is characterized by onset of focal seizures in the first years of life and that has_material_basis_in heterozygous mutation in the SCN3A gene on chromosome 2q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28235671/ "DO"] synonym: "FFEVF4" EXACT [] synonym: "SCN3A-RELATED CONDITION" BROAD [] synonym: "SCN3A-related disorder" BROAD [] xref: MIM:617935 is_a: DOID:0081420 ! familial focal epilepsy with variable foci created_by: mtutaj creation_date: 2024-01-31T12:07:18Z [Term] id: DOID:0081425 name: autosomal recessive distal hereditary motor neuronopathy 6 alt_id: DOID:9003231 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness in early infancy and that has_material_basis_in homozygous mutation in the REEP1 gene on chromosome 2p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31872057/ "DO"] synonym: "distal hereditary motor neuropathy, autosomal recessive 6" EXACT [] synonym: "distal spinal muscular atrophy, autosomal recessive, 6" EXACT [] synonym: "Distal Spinal Muscular Atrophy Type 6" EXACT [] synonym: "DSMA6" EXACT [] synonym: "HMNR6" EXACT [] xref: MIM:620011 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T12:16:45Z [Term] id: DOID:0081426 name: autosomal recessive distal hereditary motor neuronopathy 7 alt_id: DOID:9000655 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of lower leg weakness in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the VWA1 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33459760/ "DO", https://pubmed.ncbi.nlm.nih.gov/33559681/ "DO"] synonym: "distal hereditary motor neuropathy, autosomal recessive 7" EXACT [] synonym: "hereditary motor neuropathy with myopathic features" EXACT [] synonym: "HMNMYO" EXACT [] synonym: "HMNR7" EXACT [] xref: MIM:619216 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy is_a: DOID:9884 ! muscular dystrophy created_by: mtutaj creation_date: 2024-01-31T12:18:54Z [Term] id: DOID:0081427 name: autosomal recessive distal hereditary motor neuronopathy 8 alt_id: DOID:0080025 alt_id: DOID:0081376 alt_id: DOID:9006739 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset of distal muscle weakness mainly affecting the lower limbs and resulting in difficulty walking and that has_material_basis_in homozygous or compound heterozygous mutation in the SORD gene on chromosome 15q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32367058/ "DO"] synonym: "distal hereditary motor neuronopathy, autosomal recessive 8" EXACT [] synonym: "distal hereditary motor neuropathy, autosomal recessive 8" EXACT [] synonym: "HMNR8" EXACT [] synonym: "sorbitol dehydrogenase deficiency" EXACT [] synonym: "sorbitol dehydrogenase deficiency with peripheral neuropathy" EXACT [] synonym: "SORDD" EXACT [] xref: MIM:618912 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy is_a: DOID:9006079 ! Inherited Peripheral Neuropathy created_by: mtutaj creation_date: 2024-01-31T12:20:36Z [Term] id: DOID:0081428 name: autosomal recessive distal hereditary motor neuronopathy 9 alt_id: DOID:9006160 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and atrophy, resulting in gait difficulties and that has_material_basis_in homozygous or compound heterozygous mutation in the COQ7 gene on chromosome 16p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36454683/ "DO"] synonym: "distal hereditary motor neuropathy, autosomal recessive 9" EXACT [] synonym: "HMNR9" EXACT [] xref: MIM:620402 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T12:23:58Z [Term] id: DOID:0081429 name: autosomal recessive distal hereditary motor neuronopathy 10 alt_id: DOID:9003914 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by distal muscle weakness and atrophy predominantly affecting the lower limbs and resulting in gait abnormalities and that has_material_basis_in homozygous or compound heterozygous mutation in the VRK1 gene on chromosome 14q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35641352/ "DO"] synonym: "distal hereditary motor neuropathy, autosomal recessive 10" EXACT [] synonym: "HMNR10" EXACT [] synonym: "VRK1-related motor neuron disease" EXACT [] xref: MIM:620542 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy created_by: mtutaj creation_date: 2024-01-31T12:25:24Z [Term] id: DOID:0081430 name: intellectual developmental disorder with autistic features and language delay, with or without seizures alt_id: DOID:9008432 def: "An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, variable intellectual disability, impaired speech development, and behavioral abnormalities, most commonly on the autism spectrum and that has_material_basis_in heterozygous mutation in the TANC2 gene on chromosome 17q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31616000/ "DO"] synonym: "IDDALDS" EXACT [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITHOUT SEIZURES" NARROW [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH AUTISTIC FEATURES AND LANGUAGE DELAY WITH SEIZURES" NARROW [] synonym: "TANC2-RELATED CONDITION" EXACT [] xref: MIM:618906 is_a: DOID:0060041 ! autism spectrum disorder is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:1826 ! epilepsy is_a: DOID:9005466 ! Language Development Disorders created_by: mtutaj creation_date: 2024-02-28T17:17:30Z [Term] id: DOID:0081431 name: microcephaly, short stature, and limb abnormalities alt_id: DOID:9002832 def: "An osteochondrodysplasia that is characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray and that has_material_basis_in homozygous or compound heterozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly-micromelia syndrome, a more severe disorder that usually results in intrauterine or perinatal death. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28191891/ "DO"] synonym: "DONSON-RELATED CONDITION" BROAD [] synonym: "DONSON-related microcephaly-short stature-limb abnormalities spectrum" EXACT [] synonym: "MISSLA" EXACT [] xref: MIM:617604 xref: ORDO:572761 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: mtutaj creation_date: 2024-04-01T11:33:01Z [Term] id: DOID:0081432 name: microcephaly-micromelia syndrome alt_id: DOID:9002621 alt_id: MIM:251230 def: "A syndrome that is characterized by intrauterine growth retardation (IUGR), marked microcephaly, craniosynostosis, and severe malformation of the limbs, especially the arms and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22. Biallelic mutation in the DONSON gene can also cause microcephaly, short stature, and limb abnormalities, a less severe disorder. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28630177/ "DO"] synonym: "DONSON-RELATED CONDITION" BROAD [] xref: MESH:C565382 xref: ORDO:572768 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2024-04-01T11:35:49Z [Term] id: DOID:0081433 name: Peroxisome biogenesis disorder 4B alt_id: DOID:9002864 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX6 gene on chromosome 6p21.1, or overexpression of a heterozygous mutation in PEX6 due to allelic expression imbalance resulting from a polymorphism on the mutant allele in the PEX6 3-prime UTR. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"] synonym: "PBD4B" EXACT [] xref: MIM:614863 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:38:10Z [Term] id: DOID:0081434 name: Peroxisome biogenesis disorder 5B alt_id: DOID:9008800 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"] synonym: "PBD5B" EXACT [] synonym: "PEX2-RELATED CONDITION" BROAD [] xref: MIM:614867 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:43:30Z [Term] id: DOID:0081435 name: Peroxisome biogenesis disorder 6B alt_id: DOID:9006522 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX10 gene on chromosome 1p36. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"] synonym: "PBD6B" EXACT [] xref: MIM:614871 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:44:49Z [Term] id: DOID:0081436 name: Peroxisome biogenesis disorder 7B alt_id: DOID:9002413 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX26 gene on chromosome 22q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"] synonym: "PBD7B" EXACT [] xref: MIM:614873 xref: NCI:C155761 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:45:59Z [Term] id: DOID:0081437 name: Peroxisome biogenesis disorder 8B alt_id: DOID:9004875 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX16 gene on chromosome 11p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"] synonym: "PBD8B" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER DUE TO PEX16 DEFECT" BROAD [] xref: MIM:614877 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:47:17Z [Term] id: DOID:0081438 name: Peroxisome biogenesis disorder 9B alt_id: DOID:9006365 alt_id: MIM:614879 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12325024/ "DO"] synonym: "Adult Refsum Disease, 2" EXACT [] synonym: "PBD9B" EXACT [] synonym: "PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL" EXACT [] xref: MESH:C567603 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10582 ! Refsum disease is_a: DOID:9004029 ! Peroxisome Biogenesis Disorder, Complementation Group 9 created_by: mtutaj creation_date: 2024-04-01T11:49:14Z [Term] id: DOID:0081439 name: Peroxisome biogenesis disorder 11B alt_id: DOID:9005083 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous mutation in the PEX13 gene on chromosome 2p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"] synonym: "PBD11B" EXACT [] xref: MIM:614885 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:51:44Z [Term] id: DOID:0081440 name: Peroxisome biogenesis disorder 10B alt_id: DOID:9006868 def: "A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in compound heterozygous mutation in the PEX3 gene on chromosome 6q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22871920/ "DO"] synonym: "PBD10B" EXACT [] synonym: "PEX3-RELATED CONDITION" BROAD [] xref: MIM:617370 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder created_by: mtutaj creation_date: 2024-04-01T11:53:08Z [Term] id: DOID:0081441 name: Nicolaides-Baraitser syndrome alt_id: DOID:9003531 def: "A syndrome that is characterized by severely impaired intellectual development, early-onset seizures, short stature, dysmorphic facial features, and sparse hair and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19606471/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK321516/ "DO"] synonym: "Intellectual disability-sparse hair-brachydactyly syndrome" EXACT [] synonym: "NBS" EXACT [] synonym: "NCBRS" EXACT [] synonym: "SMARCA2-RELATED BAFOPATHY" BROAD [] synonym: "SMARCA2-RELATED CONDITION" BROAD [] synonym: "sparse hair and mental retardation" EXACT [] synonym: "SPARSE HAIR-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME" EXACT [] xref: GARD:270 xref: MESH:C536116 xref: MIM:601358 xref: ORDO:3051 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:4535 ! hypotrichosis is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2024-04-01T11:54:35Z [Term] id: DOID:0081442 name: blepharophimosis-impaired intellectual development syndrome alt_id: DOID:9008618 def: "A syndrome that is characterized by a distinct facial appearance with blepharophimosis and global development delay and that has_material_basis_in heterozygous mutation in the SMARCA2 gene on chromosome 9p24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32694869/ "DO"] synonym: "BIS" EXACT [] synonym: "SMARCA2-RELATED BAFOPATHY" BROAD [] synonym: "SMARCA2-related blepharophimosis-intellectual disability syndrome" EXACT [] synonym: "SMARCA2-RELATED CONDITION" BROAD [] xref: MIM:619293 xref: ORDO:637013 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10348 ! blepharophimosis is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2024-04-01T11:56:28Z [Term] id: DOID:0081443 name: Stolerman neurodevelopmental syndrome alt_id: DOID:9007117 def: "A syndrome that is characterized by developmental delay, often with motor and speech delay, mildly impaired intellectual development (in most patients), learning difficulties, and behavioral abnormalities, including autism spectrum disorder and that has_material_basis_in heterozygous mutation in the KDM6B gene on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31124279/ "DO", https://pubmed.ncbi.nlm.nih.gov/37196654/ "DO"] synonym: "KDM6B-RELATED CONDITION" EXACT [] synonym: "NEDCFSA" EXACT [] synonym: "NEDSST" EXACT [] synonym: "Neurodevelopmental Disorder with Coarse Facies and Mild Distal Skeletal Abnormalities" EXACT [] xref: MIM:618505 is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: mtutaj creation_date: 2024-04-01T11:58:03Z [Term] id: DOID:0081444 name: neurodevelopmental disorder with poor growth and behavioral abnormalities alt_id: DOID:9000845 def: "An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, moderately to severely impaired intellectual development, often with absent speech, and behavioral abnormalities, including hyperactivity, short attention span, and ADHD and that has_material_basis_in homozygous or compound heterozygous mutation in the ATP9A gene on chromosome 20q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34379057/ "DO", https://pubmed.ncbi.nlm.nih.gov/36604604/ "DO"] synonym: "NEDGBA" EXACT [] xref: MIM:620242 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2024-04-01T11:59:56Z [Term] id: DOID:0081445 name: sickle cell disease def: "A blood protein disease that is characterized by chronic hemolytic anemia and intermittent vaso-occlusive events that result in tissue ischemia leading to acute and chronic pain as well as organ damage that can affect any organ system, resulting from the replacement of one of the beta-globin subunits in hemoglobin with atypical hemoglobin molecules called hemoglobin S which can distort red blood cells into a sickle or crescent shape. Sickle cell disease subtypes should include a detailed genotypic description for the hemoglobin molecules (e.g., Hb S/S, Hb S/C, Hb S/β0-thalassemia). (DO)" [https://medlineplus.gov/genetics/condition/sickle-cell-disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK1377/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK482164/ "DO"] xref: MIM:603903 is_a: DOID:620 ! blood protein disease created_by: mtutaj creation_date: 2024-05-01T11:29:38Z [Term] id: DOID:0081446 name: dimethylglycine dehydrogenase deficiency alt_id: DOID:9005574 def: "An amino acid metabolic disorder that is characterized by a fish-like odor, chronic fatigue, and increased level of the muscle form of creatine kinase in serum and that has_material_basis_in homozygous mutation in the DMGDH on chromosome 5q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10102904/ "DO", https://pubmed.ncbi.nlm.nih.gov/11231903/ "DO"] synonym: "DMG dehydrogenase deficiency" EXACT [] synonym: "DMGDHD" EXACT [] synonym: "DMGDH Deficiency" EXACT [] xref: MESH:C565278 xref: MIM:605850 xref: MONDO:0011610 xref: ORDO:243343 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2024-05-01T11:37:30Z [Term] id: DOID:0081447 name: cone-rod dystrophy 21 alt_id: DOID:9005737 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DRAM2 gene on chromosome 1p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26720460/ "DO"] synonym: "CORD21" EXACT [] synonym: "RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT" BROAD [] xref: MIM:616502 xref: MONDO:0014669 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2024-05-01T11:46:36Z [Term] id: DOID:0081448 name: cone-rod dystrophy 22 alt_id: DOID:9007876 def: "A cone-rod dystrophy that is characterized by loss of central vision due to cone photoreceptor degeneration, with onset of symptoms ranging from the first to fifth decades of life and that has_material_basis_in homozygous mutation in the TLCD3B gene on chromosome 16p11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33077892/ "DO"] synonym: "CORD22" EXACT [] xref: MIM:619531 xref: MONDO:0030440 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2024-05-01T11:49:44Z [Term] id: DOID:0081449 name: cone-rod dystrophy 24 alt_id: DOID:9005636 def: "A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35947183/ "DO"] synonym: "CORD24" EXACT [] synonym: "UNC119-RELATED CONDITION" BROAD [] xref: MIM:620342 xref: MONDO:0957240 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2024-05-01T11:52:22Z [Term] id: DOID:0081450 name: hyperimmunoglobulinemia D periodic fever syndrome def: "A hyperimmunoglobulin syndrome that is characterized as periodic fever from early infancy accompanied by elevated serum C-reactive protein and that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding mevalonate kinase (MVK) on chromosome 12q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22041426/ "DO"] synonym: "hyper IgD syndrome" EXACT [] synonym: "hyper IgD syndromes" EXACT [] synonym: "hyperimmunoglobulinemia D" EXACT [] synonym: "hyperimmunoglobulinemia D and periodic fever syndrome" EXACT [] synonym: "periodic fever, Dutch type" EXACT [] xref: GARD:2788 xref: MIM:260920 xref: MONDO:0009849 xref: ORDO:343 is_a: DOID:2959 ! hyperimmunoglobulin syndrome created_by: mtutaj creation_date: 2024-05-01T11:55:13Z [Term] id: DOID:0081451 name: PFAPA syndrome alt_id: DOID:9007906 def: "An autoimmune disease that is characterized by recurrent febrile episodes associated with aphthous stomatitis, pharyngitis and cervical adenitis. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC8356195/ "DO"] synonym: "Marshall syndrome with periodic fever" EXACT [] synonym: "Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis" EXACT [] synonym: "Periodic fever and aphthous stomatitis with pharyngitis and cervical adenitis syndrome" EXACT [] synonym: "Periodic fever and aphthous stomatitis with pharyngitis and cervical lymphadenitis syndrome" EXACT [] synonym: "periodic fever, aphthous stomatitis, pharyngitis and adenitis" EXACT [] synonym: "Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome" EXACT [] synonym: "PFAPA" EXACT [] xref: GARD:5657 xref: MONDO:0018540 xref: ORDO:42642 is_a: DOID:417 ! autoimmune disease is_a: DOID:9000972 ! Fever is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2024-05-01T12:04:04Z [Term] id: DOID:0081452 name: large B-cell lymphoma def: "A B-cell lymphoma that is characterized by large lymphoid cells of the B-cell lineage that by definition form sheets or clusters. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37190213/ "DO"] is_a: DOID:707 ! B-cell lymphoma created_by: mtutaj creation_date: 2024-04-30T16:42:46Z [Term] id: DOID:0081453 name: Dent disease 1 alt_id: DOID:9008579 def: "A Dent disease that is characterized by manifestations of complex proximal tubule dysfunction with low-molecular-weight proteinuria, hypercalciuria, nephrolithiasis, nephrocalcinosis, and progressive renal failure and that has_material_basis_in mutation in the CLCN5 gene on chromosome Xp11. Extra-renal involvement is absent. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32248351/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK99494/ "DO"] synonym: "DENT1" EXACT [] synonym: "Hypercalciuric Urolithiasis, X-Linked" EXACT [] synonym: "Nephrolithiasis 2" EXACT [] synonym: "Nephrolithiasis, hypercalciuria, x-linked" EXACT [] synonym: "Nephrolithiasis, Hypercalciuric, X-Linked" EXACT [] synonym: "NPHL2" EXACT [] xref: MESH:C538212 xref: MIM:300009 xref: MONDO:0010225 xref: ORDO:93622 is_a: DOID:0050699 ! Dent disease created_by: mtutaj creation_date: 2024-06-21T11:20:10Z [Term] id: DOID:0081454 name: Dent disease 2 alt_id: DOID:9007045 def: "A Dent disease that is characterized by low molecular weight proteinuria and other features of Fanconi syndrome but typically do not include proximal renal tubular acidosis and that has_material_basis_in mutation in the OCRL gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15627218/ "DO"] synonym: "DENT2" EXACT [] synonym: "dent disease type 2" EXACT [] xref: MESH:C564487 xref: MIM:300555 xref: MONDO:0010359 is_a: DOID:0050699 ! Dent disease created_by: mtutaj creation_date: 2024-06-21T12:25:23Z [Term] id: DOID:0081455 name: auto-brewery syndrome def: "An acquired metabolic disease that is characterized by the endogenous production of ethanol produced through endogenous fermentation by fungi or bacteria in the gastrointestinal system, oral cavity, or urinary system and typically presents with the signs of alcohol intoxication. (DO)" [https://en.wikipedia.org/wiki/Auto-brewery_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/38246992/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK513346/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7667719/ "DO"] synonym: "gut fermentation syndrome" EXACT [] is_a: DOID:0060158 ! acquired metabolic disease created_by: mtutaj creation_date: 2024-07-01T09:22:28Z [Term] id: DOID:0081456 name: bladder fermentation syndrome def: "An acquired metabolic disease that is characterized by ethanol fermentation in the bladder and the absence of alcoholic intoxication. (DO)" [https://pubmed.ncbi.nlm.nih.gov/38246992/ "DO"] synonym: "urinary auto-brewery syndrome" EXACT [] is_a: DOID:0081455 ! auto-brewery syndrome is_a: DOID:365 ! bladder disease created_by: mtutaj creation_date: 2024-07-01T09:24:48Z [Term] id: DOID:0081457 name: intrathyroid thymic carcinoma def: "A thyroid gland carcinoma composed of groups of carcinoma cells with thymic epithelial differentiation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37925863/ "DO"] synonym: "Carcinoma showing thymus-like differentiation" EXACT [] synonym: "Carcinoma showing thymus-like element" EXACT [] synonym: "CASTLE" EXACT [] synonym: "Thyroid_Gland_Carcinoma_Showing_Thymus-Like_Differentiation" EXACT [] xref: ICDO:8589/3 xref: NCI:C46106 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:28:21Z [Term] id: DOID:0081458 name: thyroid gland cribriform morular carcinoma def: "A thyroid gland carcinoma that is characterized by the presence of cribriform, trabecular, follicular, papillary, and solid growth patterns and squamoid morulae formation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35882545/ "DO"] synonym: "Cribriform-Morular Variant Thyroid Gland Papillary Cancer" EXACT [] synonym: "Cribriform-Morular Variant Thyroid Gland Papillary Carcinoma" EXACT [] xref: NCI:C126408 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:30:19Z [Term] id: DOID:0081459 name: thyroid gland mixed medullary and follicular cell-derived carcinoma def: "A thyroid gland carcinoma containing a medullary carcinoma component that is immunohistochemically positive for calcitonin, and follicular cell-derived carcinoma component that is immunohistochemically positive for thyroglobulin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20574174/ "DO"] synonym: "mixed medullary and follicular cell-derived carcinomas" EXACT [] synonym: "thyroid gland mixed medullary and follicular cell carcinoma" EXACT [] xref: EFO:1000589 xref: NCI:C46104 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:33:00Z [Term] id: DOID:0081460 name: thyroid gland mucinous carcinoma def: "A thyroid gland carcinoma that is characterized by the presence of clusters of malignant epithelial cells associated with abundant extracellular mucin deposition. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24466763/ "DO"] xref: NCI:C156267 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:34:11Z [Term] id: DOID:0081461 name: thyroid gland spindle epithelial tumor with thymus-like elements def: "A thyroid gland carcinoma that is characterized by a lobulated architectural pattern and the presence of a biphasic cellular population composed of spindle epithelial cells and glandular cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21085772/ "DO"] synonym: "SETTLE" EXACT [] synonym: "Spindle Epithelial Tumor with Thymus-Like Elements" EXACT [] synonym: "Thyroid Gland Spindle Cell Tumor with Thymus-Like Differentiation" EXACT [] xref: EFO:1000593 xref: NCI:C46105 is_a: DOID:3963 ! thyroid gland carcinoma created_by: mtutaj creation_date: 2024-07-01T09:36:14Z [Term] id: DOID:0090001 name: Fraser syndrome alt_id: MIM:PS219000 def: "A syndrome characterized by cryptophthalmos, syndactyly, ambiguous genitalia, laryngeal and genitourinary malformations, oral clefting, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21, the FREM2 gene on chromosome 13q13, or the GRIP1 gene on chromosome 12q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12766769 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15838507 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16894541 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22510445 "DO"] synonym: "cryptophthalmos-syndactyly syndrome" EXACT [] synonym: "cryptophthalmos with other malformations" EXACT [] xref: GARD:6465 xref: MESH:D058497 xref: NCI:C118436 xref: ORDO:2052 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111716 ! cryptophthalmia is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:0090002 name: Tietz syndrome alt_id: MIM:103500 def: "A syndrome that is characterized by congenital profound bilateral sensorineural hearing loss and generalized albino-like hypopigmentation of skin, eyes and hair that has_material_basis_in mutation in the MITF gene on chromosome 3p13. (DO)" [https://ghr.nlm.nih.gov/condition/tietz-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/13985019 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8589691 "DO"] synonym: "albinism and complete nerve deafness" EXACT [] synonym: "albinism-deafness of Tietz" EXACT [] synonym: "hypopigmentation-deafness of Tietz" EXACT [] synonym: "TADS" EXACT [] synonym: "Tietz albinism-deafness syndrome" EXACT [] xref: GARD:7772 xref: MESH:C536919 xref: ORDO:42665 is_a: DOID:0050632 ! oculocutaneous albinism is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008681 ! Deafness [Term] id: DOID:0090003 name: agenesis of the corpus callosum with peripheral neuropathy alt_id: DOID:0060600 alt_id: MIM:218000 def: "A neurodegenerative disease characterized by autosomal recessive inheritance with early onset of severe sensory-motor polyneuropathy, variable degree of agenesis of the corpus callosum, amyotrophy, hypotonia, and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SLC12A6 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12368912 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12838516 "DO"] synonym: "ACCPN" EXACT [] synonym: "agenesis of corpus callosum with neuronopathy" EXACT [] synonym: "Agenesis of Corpus Callosum with Peripheral Neuropathy" EXACT [] synonym: "Agenesis of Corpus Callosum with Polyneuropathy" EXACT [] synonym: "Andermann syndrome" EXACT [] synonym: "Charlevoix disease" EXACT [] synonym: "Corpus Callosum Agenesis Neuronopathy" EXACT [] synonym: "corpus callosum agenesis-neuronopathy syndrome" EXACT [] synonym: "hereditary motor and sensory neuropathy with agenesis of corpus callosum" EXACT [] synonym: "Hereditary Motor and Sensory Neuropathy with Agenesis of the Corpus Callosum" EXACT [] synonym: "sensorimotor polyneuropathy with or without agenesis of the corpus callosum" EXACT [] xref: MESH:C536446 xref: ORDO:1496 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:870 ! neuropathy is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:0090004 name: progressive pseudorheumatoid arthropathy of childhood alt_id: MIM:208230 def: "A osteochondrodysplasia characterized by autosomal recessive inheritance with typical onset around 3 years of age, progressive severe degenerative joint disease, platyspondyly, epiphyseal enlargement but absence of inflammatory joint disease that has_material_basis_in homozygous or compound heterozygous mutation in the CHST3 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15215498 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15601861 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6807993 "DO"] synonym: "PPAC" EXACT [] synonym: "PPD" EXACT [] synonym: "progressive pseudorheumatoid dysplasia" EXACT [] synonym: "SEDT-PA" EXACT [] synonym: "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome" EXACT [] synonym: "spondyloepiphyseal dysplasia tarda with progressive arthropathy" EXACT [] xref: MESH:C535387 xref: NCI:C202612 xref: ORDO:1159 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:381 ! arthropathy [Term] id: DOID:0090005 name: Schwartz-Jampel syndrome 1 alt_id: DOID:9000985 alt_id: MESH:C565452 alt_id: MIM:245160 def: "A syndrome characterized by neuromyotonia and chondrodysplasia that has_material_basis_in hypomorphic mutations in the HSPG2 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11941538 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1552548 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18647752 "DO"] synonym: "Aberfeld syndrome" EXACT [] synonym: "Burton skeletal dysplasia" EXACT [] synonym: "Burton syndrome" EXACT [] synonym: "Catel-Hempel syndrome" EXACT [] synonym: "Catel-Hempel type dysostosis enchondralis metaepiphysaria" EXACT [] synonym: "HSPG2-RELATED CONDITION" BROAD [] synonym: "HSPG2-RELATED DISORDER" BROAD [] synonym: "Kniest-like dysplasia with pursed lips and ectopia lentis" EXACT [] synonym: "myotonic chondrodystrophy" EXACT [] synonym: "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies" EXACT [] synonym: "osteochondromuscular dystrophy" EXACT [] synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN" RELATED [] synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN" RELATED [] synonym: "Schwartz-Jampel-Aberfeld syndrome" EXACT [] synonym: "Schwartz Jampel syndrome" EXACT [] synonym: "Schwartz-Jampel syndrome, type 1" EXACT [] synonym: "SJS" EXACT [] synonym: "SJS1" EXACT [] xref: GARD:250 xref: MIM:255800 xref: NCI:C35008 xref: ORDO:800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9004201 ! Ectopia Lentis is_a: DOID:9008499 ! Microstomia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0090006 name: renal coloboma syndrome alt_id: MIM:120330 def: "A syndrome characterized by optic nerve coloboma and renal disease that has_material_basis_in heterozygous mutation in the PAX2 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10466411 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7795640 "DO"] synonym: "CAKUT with or without ocular abnormalities" EXACT [] synonym: "coloboma of optic nerve with renal disease" EXACT [] synonym: "Coloboma-Ureteral-Renal Syndrome" EXACT [] synonym: "CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH OR WITHOUT OCULAR ABNORMALITIES" EXACT [] synonym: "isolated renal hypoplasia" EXACT [] synonym: "Optic coloboma, vesicoureteral reflux, and renal anomalies" EXACT [] synonym: "Optic Nerve Coloboma Renal Syndrome" EXACT [] synonym: "Optic nerve coloboma with renal disease" EXACT [] synonym: "Papillorenal syndrome" EXACT [] synonym: "papillo-renal syndrome, optic nerve coloboma with renal disease" EXACT [] synonym: "Papillorenal syndrome with macular abnormalities" NARROW [] synonym: "PAPRS" EXACT [] synonym: "PAX2-RELATED CONDITION" BROAD [] synonym: "renal-coloboma syndrome with macular abnormalities" EXACT [] xref: GARD:4106 xref: MESH:C537168 xref: ORDO:1475 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080205 ! CAKUT is_a: DOID:1074 ! kidney failure is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome [Term] id: DOID:0090007 name: immunodeficiency-centromeric instability-facial anomalies syndrome def: "A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17893117 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26216346 "DO"] synonym: "centromeric instability, immunodeficiency syndrome" EXACT [] synonym: "ICF syndrome" EXACT [] synonym: "immunodeficiency syndrome, variable" EXACT [] xref: MESH:C537362 xref: MIM:PS242860 xref: ORDO:2268 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9004814 ! Chromosome Aberrations is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0090008 name: immunodeficiency-centromeric instability-facial anomalies syndrome 1 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism and immunoglobulin deficiency of lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the DNMT3B gene on chromosome 20q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10647011 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17893117 "DO"] synonym: "CENTROMERIC INSTABILITY OF CHROMOSOMES 1,9 AND 16 AND IMMUNODEFICIENCY" EXACT [] synonym: "CIID" EXACT [] synonym: "ICF1" EXACT [] synonym: "ICF syndrome 1" EXACT [] synonym: "IMMUNE DEFICIENCY, VARIABLE, WITH CENTROMERIC INSTABILITY OF CHROMOSOMES 1, 9, AND 16" EXACT [] xref: MIM:242860 xref: NCI:C156430 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090009 name: immunodeficiency-centromeric instability-facial anomalies syndrome 2 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, facial dysmorphism, immunoglobulin deficiency resulting in recurrent infections, and mental retardation that has_material_basis_in homozygous or compound heterozygous mutation in the ZBTB24 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21596365 "DO"] synonym: "ICF2" EXACT [] synonym: "ICF syndrome 2" EXACT [] synonym: "IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME TYPE 2" EXACT [] xref: MIM:614069 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090010 name: immunodeficiency-centromeric instability-facial anomalies syndrome 3 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous mutation in the CDCA7 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26216346 "DO"] synonym: "ICF3" EXACT [] synonym: "ICF syndrome 3" EXACT [] xref: MIM:616910 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090011 name: immunodeficiency-centromeric instability-facial anomalies syndrome 4 def: "An immunodeficiency-centromeric instability-facial anomalies syndrome characterized by autosomal recessive inheritance, recurrent infections in childhood and variable dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the HELLS gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26216346 "DO"] synonym: "ICF4" EXACT [] synonym: "ICF syndrome 4" EXACT [] xref: ICD10CM:D84.8 xref: MIM:616911 is_a: DOID:0090007 ! immunodeficiency-centromeric instability-facial anomalies syndrome [Term] id: DOID:0090012 name: severe combined immunodeficiency with sensitivity to ionizing radiation alt_id: DOID:0060006 alt_id: MIM:602450 def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive with sensitivity to ionizing radiation and that has_material_basis_in mutation in the DCLRE1C gene on chromosome 10p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11336668 "DO"] synonym: "artemis deficiency" EXACT [] synonym: "Athabaskan severe combined immunodeficiency" EXACT [] synonym: "partial severe combined immunodeficiency" NARROW [] synonym: "RS-SCID" EXACT [] synonym: "SCIDA" EXACT [] synonym: "SCID, Athabascan type" EXACT [] synonym: "SCID, Athabaskan type" EXACT [] synonym: "SCID, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" EXACT [] synonym: "SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, WITH SENSITIVITY TO IONIZING RADIATION SEVERE COMBINED IMMUNODEFICIENCY, ATHABASKAN-TYPE" NARROW [] synonym: "SCID due to artemis deficiency" EXACT [] synonym: "SCID due to DCLRE1C deficiency" EXACT [] synonym: "severe combined immunodeficiency, Athabascan type" EXACT [] synonym: "severe combined immunodeficiency, Athabaskan type" EXACT [] synonym: "severe combined immunodeficiency due to artemis deficiency" EXACT [] synonym: "severe combined immunodeficiency due to DCLRE1C deficiency" EXACT [] xref: ICD10CM:D81.1 xref: MESH:C536786 xref: MESH:C537589 xref: NCI:C162694 xref: ORDO:275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0090013 name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive alt_id: MIM:601457 alt_id: OMIA:001574 alt_id: OMIA:001986 def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-negative and natural killer cell-positive and that has_material_basis_in mutation in the RAG1 and RAG2 genes on chromosome 11p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1940786 "DO"] synonym: "ATYPICAL SEVERE COMBINED IMMUNODEFICIENCY DUE TO COMPLETE RAG1/2 DEFICIENCY" EXACT [] synonym: "SCID due to complete RAG1-2 deficiency" EXACT [] synonym: "SCID, T Cell-Negative, B Cell-Negative, NK Cell-Positive" EXACT [] synonym: "severe combined immunodeficiency, B cell-negative" EXACT [] synonym: "severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive" EXACT [] synonym: "severe combined immunodeficiency disease, autosomal, T cell-negative, B cell-negative, NK cell-positive, with sensitivity to ionizing radiation" RELATED [] synonym: "severe combined immunodeficiency due to complete RAG1-2 deficiency" EXACT [] synonym: "severe immunodeficiency, T-cell negative, B-cell negative, NK cell-positive, autosomal recessive" EXACT [] xref: MESH:C563311 xref: ORDO:331206 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0090014 name: severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive alt_id: DOID:0060015 def: "A severe combined immunodeficiency characterized by being T cell-negative, B cell-positive and natural killer cell-positive and that has_material_basis_in homozygous or compound heterozygous mutation in the IL7R gene on chromosome 5p13 or the CD45 gene on chromosome 1q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15661025 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9068311 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9843216 "DO"] synonym: "autosomal recessive T cell-negative, B-cell negative, NK cell-positive SCID" EXACT [] synonym: "autosomal recessive T cell-negative, B-cell positive, NK cell-positive SCID" EXACT [] synonym: "IL-7R" EXACT [] synonym: "interleukin-7 receptor alpha deficiency" EXACT [] xref: ICD10CM:D81.2 xref: MESH:C563822 xref: ORDO:169154 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:0090015 name: Cenani-Lenz syndactyly syndrome def: "A dysostosis characterized by syndactyly, malformation of the forearm and lower limb bones, renal hypoplasia or aplasia and that has_material_basis_in homozygous or compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18978656 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20381006 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6279340 "DO"] synonym: "Cenani-Lenz Syndactyly" EXACT [] synonym: "Cenani syndactylism" EXACT [] synonym: "CLSS" EXACT [] synonym: "syndactyly, Cenani-Lenz type" EXACT [] synonym: "Syndactyly type 7" EXACT [] synonym: "syndactyly type VII" EXACT [] xref: GARD:5084 xref: MESH:C538150 xref: MIM:212780 xref: MONDO:0008931 xref: ORDO:3258 is_a: DOID:11193 ! syndactyly is_a: DOID:1934 ! dysostosis is_a: DOID:630 ! genetic disease [Term] id: DOID:0090016 name: chromosome 5q deletion syndrome alt_id: MIM:153550 def: "A chromosomal deletion syndrome characterized by severe macrocytic anemia erythroid hypoplasia in the bone marrow, hypolobated micromegakaryocytes and that has_material_basis_in somatic deletion of 1 allele of the RPS14, MIR145, MIR146A and/or DDX41 genes on chromosome 5q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18202658 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19898489 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25920683 "DO"] synonym: "5q deletion syndrome" EXACT [] synonym: "5q- syndrome" EXACT [] synonym: "5q- syndrome, refractory macrocytic anemia due to 5q deletion" EXACT [] synonym: "MAR MEGAKARYOCYTES, UNILOBULAR NUCLEATED" NARROW [] synonym: "myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality" EXACT [] synonym: "refractory macrocytic anemia due to 5q deletion" NARROW [] xref: GARD:10840 xref: ICD10CM:D46.7 xref: MESH:C535323 xref: ORDO:86841 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:2361 ! macrocytic anemia [Term] id: DOID:0090017 name: epidermolysis bullosa simplex with muscular dystrophy alt_id: MIM:226670 def: "An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2662909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8696340 "DO"] synonym: "EBS5B" EXACT [] synonym: "EBSMD" EXACT [] synonym: "epidermolysa bullosa simplex and limb girdle muscular dystrophy" RELATED [] synonym: "epidermolysis bullosa simplex 5B with muscular dystrophy" EXACT [] synonym: "epidermolysis bullosa simplex and limb-girdle muscular dystrophy" EXACT [] synonym: "limb-girdle muscular dystrophy with epidermolysis bullosa simplex" EXACT [] synonym: "MD-EBS" EXACT [] synonym: "MDEBS" EXACT [] xref: MESH:C535955 xref: ORDO:257 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11724 ! limb-girdle muscular dystrophy is_a: DOID:225 ! syndrome is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0090018 name: autosomal dominant familial periodic fever alt_id: MIM:142680 def: "A primary immunodeficiency disease characterized by recurrent fever, abdominal pain, localized tender skin lesions, arthralgia and myalgia associated with skin, joint, ocular and serosal inflammation that has_material_basis_in heterozygous mutation in the TNFRSF1A gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10199409 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7156325 "DO", https://www.nomidalliance.org/traps.php "DO"] synonym: "familial hibernian fever" EXACT [] synonym: "FHF" EXACT [] synonym: "FPF" EXACT [] synonym: "hibernian fever" EXACT [] synonym: "TNF receptor 1-associated periodic syndrome" EXACT [] synonym: "TNF receptor-associated periodic fever syndrome (TRAPS)" EXACT [] synonym: "TNF receptor-associated periodic syndrome" EXACT [] synonym: "TNF receptor-associated periodic syndrome (TRAPS)" EXACT [] synonym: "TRAPS" EXACT [] synonym: "tumor necrosis factor receptor 1 associated periodic syndrome" EXACT [] synonym: "tumor necrosis factor receptor-associated periodic syndrome" EXACT [] xref: GARD:8457 xref: ICD10CM:E85.0 xref: MESH:C536657 xref: ORDO:32960 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9000972 ! Fever is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:0090019 name: sitosterolemia def: "An intestinal disease that is characterized by autosomal recessive inheritance of unrestricted intestinal absorption of both cholesterol and plant-derived cholesterol-like molecules resulting in xanthomas, arthralgia, premature atherosclerosis, and hemolytic anemia with stomatocytosis and macrothrombocytopenia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene or in the ABCG5 gene, both of which are located on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11099417 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11138003 "DO"] synonym: "phytosterolemia" EXACT [] synonym: "plant sterol storage disease" EXACT [] synonym: "pseudohomozygous familial hypercholesterolemia" EXACT [] synonym: "STSL" EXACT [] xref: GARD:7653 xref: MESH:C537345 xref: MIM:PS210250 xref: NCI:C125694 xref: ORDO:2882 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5295 ! intestinal disease is_a: DOID:9000808 ! Hypercholesterolemia [Term] id: DOID:0090020 name: split hand-foot malformation alt_id: MESH:C574275 def: "A bone development disease characterized by malformation of the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients also have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12668597 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7802032 "DO"] synonym: "ECD" RELATED [] synonym: "ectrodactyly" RELATED [] synonym: "lobster-claw deformity" EXACT [] synonym: "split hand/foot malformation" EXACT [] synonym: "split-hand deformity" EXACT [] synonym: "split hand foot deformity" EXACT [] xref: GARD:6319 xref: MESH:C535777 xref: MIM:PS183600 xref: ORDO:2440 is_a: DOID:0080006 ! bone development disease is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0090021 name: split hand-foot malformation 1 def: "A split-hand/foot malformation that has_material_basis_in contiguous gene mutations caused by deletion, duplication, or rearrangement of chromosome 7q21.3 involving the DSS1, DLX5, and DLX6 genes and possible regulatory elements in the region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24496061 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7616545 "DO"] synonym: "SHFD1" EXACT [] synonym: "SHFM1" EXACT [] synonym: "SHSF1" EXACT [] synonym: "split-hand/foot malformation 1 with or without deafness" EXACT [] synonym: "split hand foot deformity 1" EXACT [] xref: MIM:183600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090020 ! split hand-foot malformation created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0090022 name: split hand-foot malformation 5 alt_id: MIM:606708 def: "A split-hand/foot malformation that has_material_basis_in deletions in the chromosome region 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10364522 "DO"] synonym: "SHFM5" EXACT [] xref: ICD10CM:Q71.6 xref: ICD10CM:Q71.60 xref: MESH:C564674 xref: NCI:C75000 is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090023 name: split hand-foot malformation 4 alt_id: MIM:605289 def: "A split-hand/foot malformation that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10839977 "DO"] synonym: "SHFM4" EXACT [] xref: MESH:C565344 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090024 name: split hand-foot malformation 1 with sensorineural hearing loss alt_id: MIM:220600 alt_id: RDO:0014230 def: "A split-hand/foot malformation characterized by split-hand/foot malformation and sensorineural hearing impairment that has_material_basis_in homozygous mutation in the DLX5 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22121204 "DO"] synonym: "congenital deafness and split hands and feet" EXACT [] synonym: "congenital deafness with split hands and feet" EXACT [] synonym: "SHFM1D" EXACT [] synonym: "SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE" EXACT [] xref: MESH:C565647 xref: ORDO:71271 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090020 ! split hand-foot malformation is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0090025 name: split hand-foot malformation 3 alt_id: MIM:246560 def: "A split-hand/foot malformation that has_material_basis_in a contiguous gene duplication syndrome on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14699611 "DO"] synonym: "chromosome 10q24 duplication syndrome" EXACT [] synonym: "distal limb deficiencies with micrognathia" EXACT [] synonym: "SHFM3" EXACT [] synonym: "SHSF3" EXACT [] xref: MESH:C565437 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0090020 ! split hand-foot malformation is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0090026 name: split hand-foot malformation 6 alt_id: MIM:225300 def: "A split-hand/foot malformation that has_material_basis_in homozygous mutation in the WNT10B gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18515319 "DO"] synonym: "Ectrodactyly, Autosomal Recessive" EXACT [] synonym: "SHFM6" EXACT [] xref: MESH:C567616 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090027 name: split hand-foot malformation 2 alt_id: MIM:313350 def: "A split-hand/foot malformation that has_material_basis_in variation in the chromosome region Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15617554 "DO"] synonym: "SHFD2" EXACT [] synonym: "SHFM2" EXACT [] synonym: "SHSF2" EXACT [] synonym: "split hand foot anomaly, X-linked" EXACT [] synonym: "split-hand-foot deformity 2" EXACT [] synonym: "split hand-foot malformation X-linked" EXACT [] synonym: "split-hand-split-foot anomaly, X-linked" EXACT [] xref: MESH:C564056 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0090020 ! split hand-foot malformation [Term] id: DOID:0090028 name: familial isolated deficiency of vitamin E alt_id: MIM:277460 def: "A vitamin metabolic disorder characterized by progressive spino-cerebellar ataxia, loss of proprioception, areflexia, and marked deficiency in vitamin E that has_material_basis_in homozygous or compound heterozygous mutation in the TTPA gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2298915 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7719340 "DO"] synonym: "ataxia and retinitis pigmentosa with isolated vitamin E deficiency" EXACT [] synonym: "ataxia with isolated vitamin E deficiency" EXACT [] synonym: "ataxia with vitamin E deficiency" EXACT [] synonym: "AVED" EXACT [] synonym: "familial isolated vitamin E deficiency" EXACT [] synonym: "Friedreich ataxia phenotype with selective vitamin E deficiency" EXACT [] synonym: "Friedreich-like ataxia" EXACT [] synonym: "Friedreich-like ataxia with isolated vitamin E deficiency" EXACT [] synonym: "Friedreich-like ataxia with selective vitamin E deficiency" EXACT [] synonym: "VED" EXACT [] xref: MESH:C535393 xref: NCI:C155996 xref: ORDO:96 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:9004866 ! Ataxia is_a: DOID:9006575 ! Vitamin E Deficiency [Term] id: DOID:0090029 name: CINCA syndrome def: "An autoimmune disease characterized by neonatal onset of cutaneous symptoms, chronic meningitis, and joint manifestations with recurrent fever and inflammation that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032915 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7252669 "DO", https://www.nomidalliance.org/nomid.php "DO"] synonym: "CAPS3" EXACT [] synonym: "chronic infantile neurological cutaneous and articular syndrome" EXACT [] synonym: "chronic infantile neurological cutaneous articular syndrome" EXACT [] synonym: "chronic infantile neurologic cutaneous and articular syndrome" EXACT [] synonym: "chronic neurologic cutaneous and articular syndrome" EXACT [] synonym: "CINCA" EXACT [] synonym: "cryopyrin-associated periodic syndrome 3" EXACT [] synonym: "infantile-onset multisystem inflammatory disease" EXACT [] synonym: "IOMID" EXACT [] synonym: "IOMID syndrome" EXACT [] synonym: "neonatal-onset multisystem inflammatory disease" EXACT [] synonym: "NOMID" EXACT [] synonym: "NOMID syndrome" EXACT [] synonym: "Prieur-Griscelli syndrome" EXACT [] xref: MIM:607115 xref: NCI:C116380 xref: ORDO:1451 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:417 ! autoimmune disease is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0090030 name: corticosteroid-binding globulin deficiency alt_id: MIM:611489 def: "An adrenal gland disease characterized by decreased levels of serum corticosteroid-binding globulin and cortisol, and in some cases hypo- or hypertension, and muscle fatigue that has_material_basis_in heterozygous or homozygous mutation in the SERPINA6 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10634411 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7061486 "DO"] synonym: "CBG deficiency" EXACT [] synonym: "elevated corticosteroid-binding globulin" RELATED [] synonym: "Transcortin Deficiency" EXACT [] xref: GARD:13101 xref: ICD10CM:E27.8 xref: MESH:C565152 xref: ORDO:199247 is_a: DOID:0050177 ! monogenic disease is_a: DOID:9006617 ! Fatigue is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:0090031 name: D-bifunctional protein deficiency def: "A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2. (DO)" [https://ghr.nlm.nih.gov/condition/d-bifunctional-protein-deficiency "DO", https://www.omim.org/entry/261515 "DO"] synonym: "17-BETA-HYDROXYSTEROID DEHYDROGENASE IV DEFICIENCY" EXACT [] synonym: "DBP deficiency" EXACT [] synonym: "HSD17B4-RELATED CONDITION" BROAD [] synonym: "PBFE DEFICIENCY" EXACT [] synonym: "peroxisomal bifunctional enzyme deficiency" EXACT [] xref: GARD:4539 xref: MIM:261515 xref: NCI:C119676 xref: ORDO:300 is_a: DOID:0112248 ! 17-beta hydroxysteroid dehydrogenase 3 deficiency is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0090032 name: Silverman-Handmaker type dyssegmental dysplasia alt_id: MIM:224410 def: "An osteochondrodysplasia characterized by short-limbed dwarfism, anisospondyly, and neonatal lethality that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding perlecan (HSPG2) on chromosome 1p36. (DO)" [https://ghr.nlm.nih.gov/gene/HSPG2#conditions "DO", https://www.omim.org/entry/224410 "DO"] synonym: "anisospondylic camptomicromelic dwarfism" EXACT [] synonym: "Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type" EXACT [] synonym: "DDSH" EXACT [] synonym: "Dyssegmental dwarfism" EXACT [] synonym: "Dyssegmental Dwarfism, Silverman-Handmaker Type" EXACT [] synonym: "dyssegmental dysplasia" EXACT [] synonym: "HSPG2-RELATED CONDITION" BROAD [] synonym: "HSPG2-RELATED DISORDER" BROAD [] synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PERLECAN" RELATED [] synonym: "QUALITATIVE OR QUANTITATIVE DEFECTS OF PLECTIN" RELATED [] xref: ICD10CM:Q77.7 xref: MESH:C537998 xref: ORDO:1865 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0090033 name: myoclonic dystonia def: "A dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles and dystonia, usually torticollis or writer's cramp, that typically responds to alcohol and has onset in the first or second decade of life. (DO)" [https://en.wikipedia.org/wiki/Myoclonic_dystonia "DO", https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO"] synonym: "alcohol-responsive dystonia" EXACT [] synonym: "Hereditary essential myoclonus" EXACT [] synonym: "Myoclonus-Dystonia" EXACT [] synonym: "myoclonus-dystonia syndrome" EXACT [] xref: MESH:C536096 is_a: DOID:543 ! dystonia [Term] id: DOID:0090034 name: myoclonic dystonia 11 def: "A myoclonic dystonia that is characterized by myoclonic jerks affecting mostly proximal muscles, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the epsilon-sarcoglycan gene (SGCE) on chromosome 7q21. (DO)" [https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO", https://www.omim.org/entry/159900 "DO"] synonym: "dystonia 11" EXACT [] synonym: "DYT11" EXACT [] xref: MIM:159900 xref: NCI:C201596 xref: ORDO:36899 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0090035 name: myoclonic dystonia 15 alt_id: MIM:607488 def: "A myoclonic dystonia that is characterized by jerky movements of the upper limbs, hands, and axial muscles, and has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p11. (DO)" [https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO", https://www.omim.org/entry/607488 "DO"] synonym: "DYT15" EXACT [] xref: MESH:C538002 xref: ORDO:210566 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090036 name: myoclonic dystonia 26 def: "A myoclonic dystonia characterized by onset of myoclonic jerks affecting the upper limbs, progressing to dystonia with predominant involvement of the craniocervical regions, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the KCTD17 gene on chromosome 22q12. (DO)" [https://ghr.nlm.nih.gov/condition/myoclonus-dystonia "DO", https://www.omim.org/entry/616398 "DO"] synonym: "DYT26" EXACT [] xref: MIM:616398 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090033 ! myoclonic dystonia created_by: rgd creation_date: 2017-03-03T00:00:00Z [Term] id: DOID:0090037 name: torsion dystonia 13 alt_id: MIM:607671 def: "A dystonia that is characterized by focal or segmental dystonia with cranial, cervical, or upper limb involvement that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 1p36.32-p36.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11261511 "DO", https://www.omim.org/entry/607671 "DO"] synonym: "DYT13" EXACT [] synonym: "torsion dystonia 13, autosomal dominant" EXACT [] xref: MESH:C564354 xref: ORDO:98807 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000314 ! Torsion Abnormality is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090038 name: torsion dystonia 2 alt_id: MIM:224500 def: "A dystonia that initially involves the distal limbs and later involves the neck, orofacial, and craniocervical regions, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hippocalcin (HPCA) gene on chromosome 1p35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25799108 "DO", https://www.omim.org/entry/224500 "DO"] synonym: "dystonia musculorum deformans 2" EXACT [] synonym: "dystonia musculorum deformans type 2" EXACT [] synonym: "DYT2" EXACT [] synonym: "torsion dystonia 2, autosomal recessive" EXACT [] synonym: "torsion dystonia 2, autosomal recessive type" EXACT [] xref: MESH:C538006 xref: NCI:C123415 xref: ORDO:99657 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090039 name: torsion dystonia 6 alt_id: MIM:602629 def: "A generalized dystonia that is characterized by early-onset generalised dystonia typically involing the craniocervical region with spasmodic dysphonia that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the THAP domain containing 1 gene (THAP1) on chromosome 8p11. (DO)" [https://ghr.nlm.nih.gov/condition/dystonia-6 "DO"] synonym: "DYT6" EXACT [] synonym: "Torsion dystonia adult onset mixed type" EXACT [] xref: MESH:C538003 xref: NCI:C156361 xref: ORDO:98806 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090040 name: torsion dystonia 7 alt_id: MIM:602124 alt_id: RDO:0002703 alt_id: RDO:0014889 def: "A focal dystonia that is characterized by predominantly cervical dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 18p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23596437 "DO", https://www.omim.org/entry/602124 "DO"] synonym: "DYT7" EXACT [] synonym: "Primary adult-onset torsion dystonia" EXACT [] synonym: "primary cervical dystonia" EXACT [] synonym: "Torsion dystonia, focal adult-onset" EXACT [] synonym: "TORSION DYSTONIA, FOCAL ADULT-ONSET CERVICAL DYSTONIA, PRIMARY" NARROW [] xref: MESH:C566572 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050836 ! focal dystonia [Term] id: DOID:0090041 name: torsion dystonia 4 def: "A dystonia that is characterized by progressive laryngeal and cervical dystonia (onset in the second to third decade of life) followed by involvement of other muscles, such as the neck or limbs that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 4A class IVa (TUBB4A) gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29127012 "DO", https://www.omim.org/entry/128101 "DO"] synonym: "dystonia musculorum deformans 4" EXACT [] synonym: "DYT4" EXACT [] synonym: "hereditary whispering dysphonia" EXACT [] synonym: "torsion dystonia 4, autosomal dominant" EXACT [] synonym: "torsion dystonia 4, autosomal dominant type" EXACT [] xref: MESH:C536698 xref: MESH:C538004 xref: MIM:128101 xref: MONDO:0007493 xref: ORDO:98805 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006046 ! Voice Disorders is_a: DOID:9008057 ! Dystonia Musculorum Deformans [Term] id: DOID:0090042 name: torsion dystonia 17 alt_id: MIM:612406 def: "A dystonia that is characterized by progressive dystonia, dysphonia, dysarthria and neck torticollis, and has_material_basis_in autosomal recessive inheritance of variation in the chromosome region 20p11.2-q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23596437 "DO", https://www.omim.org/entry/612406 "DO"] synonym: "DYT17" EXACT [] synonym: "torsion dystonia 17, autosomal recessive" EXACT [] xref: MESH:C567319 xref: ORDO:370103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090043 name: DOPA-responsive dystonia alt_id: DOID:0060963 alt_id: MIM:128230 def: "A dystonia characterized by generalized dystonia, diurnal fluctuation of symptoms, and a dramatic therapeutic response to L-dopa that has_material_basis_in heterozygous mutation in the GCH1 gene on chromosome 14q13. (DO)" [https://medlineplus.gov/genetics/condition/dopa-responsive-dystonia/ "DO", https://pubmed.ncbi.nlm.nih.gov/17111153/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1508/ "DO"] synonym: "autosomal dominant Segawa syndrome" EXACT [] synonym: "DOPA-responsive dystonia, autosomal dominant" EXACT [] synonym: "DOPA-responsive dystonia with or without hyperphenylalaninemia" EXACT [] synonym: "DRD" EXACT [] synonym: "dystonia 5" EXACT [] synonym: "dystonia 5, Dopa-responsive type" EXACT [] synonym: "dystonia, DOPA-responsive" EXACT [] synonym: "dystonia-parkinsonism with diurnal fluctuation" EXACT [] synonym: "DYT5" EXACT [] synonym: "GTPCH1-deficient dopa-responsive dystonia" EXACT [] synonym: "GTPCH1-deficient DRD" EXACT [] synonym: "hereditary progressive dystonia with marked diurnal fluctuation" EXACT [] synonym: "HPD with marked diurnal fluctuation" EXACT [] synonym: "progressive dystonia with diurnal variation" EXACT [] synonym: "Segawa syndrome, autosomal dominant" EXACT [] xref: ICD10:G24.1 xref: MESH:C538007 xref: MONDO:0016812 xref: NCI:C116719 xref: ORDO:98808 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090044 name: dystonia 9 def: "A dystonia that is characterized by paroxysmal choreoathetosis and progressive spastic paraplegia, with episodes often precipitated by alcohol, fatigue, or emotional stress, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1430/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/30616884 "DO", https://www.omim.org/entry/601042 "DO"] synonym: "CSE CHOREOATHETOSIS, PAROXYSMAL, WITH EPISODIC ATAXIA" EXACT [] synonym: "DYT9" EXACT [] synonym: "episodic choreoathetosis/spasticity" EXACT [] synonym: "kinesigenic choreoathetosis with episodic ataxia and spasticity" EXACT [] synonym: "paroxysmal choreoathetosis with episodic ataxia" EXACT [] synonym: "paroxysmal choreoathetosis with spasticity" EXACT [] xref: MESH:C563401 xref: MIM:601042 xref: MONDO:0010983 xref: ORDO:53583 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome is_a: DOID:543 ! dystonia is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:0090045 name: glucose transporter type 1 deficiency syndrome 2 def: "A dystonia characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs that has_material_basis_in heterozygous mutation in the SLC2A1 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26336901 "DO", https://www.omim.org/entry/612126 "DO"] synonym: "childhood-onset GLUT1 deficiency syndrome 2" EXACT [] synonym: "dystonia 18" EXACT [] synonym: "DYT18" EXACT [] synonym: "GLUT1 deficiency syndrome 2" EXACT [] synonym: "GLUT1DS2" EXACT [] synonym: "paroxysmal exercise-induced dyskinesia" BROAD [] synonym: "PAROXYSMAL EXERCISE-INDUCED DYSKINESIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA" EXACT [] synonym: "paroxysmal exercise-induced dystonia" EXACT [] synonym: "paroxysmal exertion-induced dyskinesia" EXACT [] synonym: "PAROXYSMAL EXERTION-INDUCED DYSTONIA WITH OR WITHOUT EPILEPSY AND/OR HEMOLYTIC ANEMIA" EXACT [] synonym: "PED" BROAD [] synonym: "PED with or without epilepsy and/or hemolytic anemia" EXACT [] xref: GARD:10541 xref: MESH:C564288 xref: MIM:612126 xref: MONDO:0012805 xref: ORDO:98811 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0070560 ! glucose transporter type 1 deficiency syndrome is_a: DOID:543 ! dystonia [Term] id: DOID:0090046 name: dystonia 21 def: "A dystonia characterized by late onset pure torsion dystonia that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q14.3-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21301909 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29770609 "DO", https://www.omim.org/entry/614588 "DO"] synonym: "DYT21" EXACT [] xref: MIM:614588 xref: ORDO:306734 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0090047 name: paroxysmal nonkinesigenic dyskinesia 2 alt_id: MIM:611147 alt_id: RDO:0015191 def: "A dystonia characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 2q31. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia "DO", https://www.ncbi.nlm.nih.gov/pubmed/20425035 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22454269 "DO"] synonym: "dystonia 20" EXACT [] synonym: "DYT20" EXACT [] synonym: "PNKD2" EXACT [] xref: MESH:C567001 xref: ORDO:98810 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12859 ! choreatic disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090048 name: dystonia 16 def: "A multifocal dystonia that is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism, and that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the protein activator of interferon induced protein kinase EIF2AK2 (PRKRA) gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28283962 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29279192 "DO", https://www.omim.org/entry/612067 "DO"] synonym: "DYT16" EXACT [] synonym: "MIM:612067" EXACT [] xref: GARD:10539 xref: ICD10CM:G24.1 xref: MESH:C567430 xref: NCI:C168729 xref: ORDO:210571 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050837 ! multifocal dystonia [Term] id: DOID:0090049 name: paroxysmal nonkinesigenic dyskinesia 1 alt_id: MIM:118800 def: "A dystonia that is characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the PNKD metallo-beta-lactamase domain containing gene on chromosome 2q35. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-nonkinesigenic-dyskinesia "DO", https://www.ncbi.nlm.nih.gov/pubmed/28090678 "DO"] synonym: "Dystonia 8" EXACT [] synonym: "DYT8" EXACT [] synonym: "familial paroxysmal choreoathetosis" EXACT [] synonym: "Familial Paroxysmal Nonkinesigenic Dyskinesia" EXACT [] synonym: "FPD1" EXACT [] synonym: "Mount-Reback syndrome" EXACT [] synonym: "nonkinesigenic choreoathetosis" EXACT [] synonym: "paroxysmal dystonic choreoathetosis" EXACT [] synonym: "paroxysmal non-kinesigenic dyskinesia" EXACT [] synonym: "paroxysmal nonkinesigenic dyskinesia" EXACT [] synonym: "PDC" EXACT [] synonym: "PNKD1" EXACT [] xref: MESH:C537181 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12859 ! choreatic disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090050 name: dystonia 27 def: "A segmental dystonia characterized by autosomal recessive inheritance of segmental isolated dystonia mainly affecting the craniocervical region and upper limbs with onset in the first 2 decades of life that has_material_basis_in autosomal recessive inheritance of compound heterozygous mutation in the collagen type VI alpha-3 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26004199 "DO", https://www.omim.org/entry/616411 "DO"] synonym: "AUTOSOMAL RECESSIVE DISTAL HEREDITARY MOTOR NEUROPATHY" EXACT [] synonym: "DYT27" EXACT [] xref: MIM:616411 xref: ORDO:464440 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050838 ! segmental dystonia is_a: DOID:9007913 ! Collagen VI-related Myopathy created_by: rgd creation_date: 2017-01-16T00:00:00Z [Term] id: DOID:0090051 name: dystonia 23 def: "A focal dystonia characterized by adult-onset cervical dystonia typically in the fourth or fifth decade of life that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the CACNA1B gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25296916 "DO", https://www.omim.org/entry/614860 "DO"] synonym: "DYT23" EXACT [] xref: ICD10CM:G24.8 xref: MIM:614860 xref: ORDO:420492 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050836 ! focal dystonia created_by: rgd creation_date: 2015-06-17T00:00:00Z [Term] id: DOID:0090052 name: dystonia 24 def: "A focal dystonia that is characterized by focal dystonia affecting the neck, laryngeal muscles, and muscles of the upper limbs, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the anoctamin 3 (ANO3) gene on chromosome 11p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30455893 "DO", https://www.omim.org/entry/615034 "DO"] synonym: "DYT24" EXACT [] xref: EFO:0009040 xref: MIM:615034 xref: ORDO:420485 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050836 ! focal dystonia [Term] id: DOID:0090053 name: episodic kinesigenic dyskinesia 1 alt_id: MIM:128200 def: "A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia "DO", https://www.omim.org/entry/128200 "DO"] synonym: "dystonia 10" EXACT [] synonym: "DYT10" EXACT [] synonym: "EKD1" EXACT [] synonym: "Familial Paroxysmal Dystonia" EXACT [] synonym: "Familial Paroxysmal Kinesigenic Dyskinesia" EXACT [] synonym: "Paroxysmal kinesigenic choreoathetosis" EXACT [] synonym: "paroxysmal kinesigenic dyskinesia" EXACT [] synonym: "PKC" EXACT [] synonym: "PKD" EXACT [] xref: GARD:8721 xref: MESH:C537180 xref: NCI:C178413 xref: ORDO:98809 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9009225 ! Episodic Kinesigenic Dyskinesia [Term] id: DOID:0090054 name: episodic kinesigenic dyskinesia 2 alt_id: MIM:611031 def: "A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. (DO)" [https://ghr.nlm.nih.gov/condition/familial-paroxysmal-kinesigenic-dyskinesia "DO"] synonym: "dystonia 19" EXACT [] synonym: "DYT19" EXACT [] synonym: "EKD2" EXACT [] xref: MESH:C567026 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9009225 ! Episodic Kinesigenic Dyskinesia [Term] id: DOID:0090055 name: dystonia 25 def: "A multifocal dystonia that is characterized by cervical, laryngeal and hand-forearm dystonia, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the GNAL gene on chromosome 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28283962 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30660597 "DO", https://www.omim.org/entry/615073 "DO"] synonym: "DYT25" EXACT [] xref: MIM:615073 xref: ORDO:329466 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050837 ! multifocal dystonia [Term] id: DOID:0090056 name: dystonia 12 alt_id: MIM:128235 def: "A dystonia that is characterized by asymmetric dystonia and parkinsonism with abrupt onset in young adulthood that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the alpha-3 subunit of the N,K-ATPase (ATP1A3) on chromosome 19q13. (DO)" [https://ghr.nlm.nih.gov/condition/rapid-onset-dystonia-parkinsonism "DO", https://www.omim.org/entry/128235 "DO"] synonym: "DYT12" EXACT [] synonym: "rapid-onset dystonia-parkinsonism" EXACT [] synonym: "RDP" EXACT [] synonym: "TASK-SPECIFIC MOVEMENT DISORDER" EXACT [] xref: MESH:C538001 xref: MONDO:0007496 xref: NCI:C157577 xref: ORDO:71517 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:543 ! dystonia [Term] id: DOID:0090057 name: X-linked dystonia-parkinsonism alt_id: MIM:314250 def: "A focal dystonia that is characterized by parkinsonism that is frequently accompanied by focal dystonia and progresses to generalized dystonia that has_material_basis_in X-linked recessive inheritance of SVA retrotransposon insertion in the intron of the TATA-box binding protein associated factor 1 gene (TAF1) on chromosome Xq13.1. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-dystonia-parkinsonism "DO", https://www.omim.org/entry/314250 "DO"] synonym: "DYT3" EXACT [] synonym: "Lubag" EXACT [] synonym: "Lubag Syndrome" EXACT [] synonym: "TAF1-RELATED CONDITION" BROAD [] synonym: "Torsion Dystonia-Parkinsonism, Filipino Type" EXACT [] synonym: "XDP" EXACT [] synonym: "X-Linked Dystonia-Parkinsonism Syndrome" EXACT [] synonym: "X-linked torsion dystonia 3" EXACT [] synonym: "X-linked torsion dystonia-parkinsonism syndrome" EXACT [] xref: GARD:10533 xref: MESH:C564048 xref: NCI:C126330 xref: ORDO:53351 is_a: DOID:0050836 ! focal dystonia is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0090058 name: torsion dystonia with onset in infancy alt_id: MIM:602554 alt_id: RDO:0002704 def: "A generalized dystonia that is characterized by autosomal dominant inheritance of generalized dystonia with severe involvement of the legs, mild involvement of the face and arms, and onset in infancy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8916165 "DO"] synonym: "autosomal dominant torsion dystonia with onset in infancy" EXACT [] xref: MESH:C536969 xref: ORDO:256 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050835 ! generalized dystonia is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0090059 name: enhanced S-cone syndrome alt_id: MIM:268100 def: "A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30900587 "DO", https://www.omim.org/entry/268100 "DO"] synonym: "ESCS" EXACT [] synonym: "FAVRE HYALOIDEORETINAL DEGENERATION" NARROW [] synonym: "GOLDMANN-FAVRE SYNDROME" NARROW [] synonym: "NR2E3-RELATED CONDITION" BROAD [] synonym: "NR2E3-RELATED DISORDER" BROAD [] synonym: "NR2E3-RELATED DISORDERS" BROAD [] synonym: "RETINOSCHISIS WITH EARLY HEMERALOPIA" NARROW [] xref: MESH:C564835 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:5679 ! retinal disease is_a: DOID:8466 ! retinal degeneration is_a: DOID:9000343 ! Vision Disorders is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0090060 name: Wolcott-Rallison syndrome alt_id: MIM:226980 def: "A syndrome that is characterized by permanent neonatal diabetes mellitus with multiple epiphyseal dysplasia, osteoporosis, growth retardation and frequently hepatic and renal dysfunction that has_material_basis_in homozygous mutation in the eukaryotic translation initiation factor 2 alpha kinase 3 (EIF2AK3) gene on chromosome 2p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30906465 "DO", https://www.omim.org/entry/226980 "DO"] synonym: "IDDM-MED syndrome" EXACT [] synonym: "multiple epiphyseal dysplasia with early-onset diabetes mellitus" EXACT [] synonym: "Wolcott-Rallison dysplasia" EXACT [] xref: ICD10CM:E13 xref: MESH:C536739 xref: ORDO:1667 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0090061 name: familial cold autoinflammatory syndrome def: "A primary immunodeficiency disease characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia. (DO)" [https://ghr.nlm.nih.gov/condition/familial-cold-autoinflammatory-syndrome "DO", https://rarediseases.org/rare-diseases/familial-cold-autoinflammatory-syndrome/ "DO", https://www.nomidalliance.org/fcas.php "DO"] synonym: "FCAS" EXACT [] xref: MIM:PS120100 is_a: DOID:1555 ! urticaria is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes [Term] id: DOID:0090062 name: familial cold autoinflammatory syndrome 1 def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP gene on chromosome 1q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11687797 "DO"] synonym: "CAPS1" EXACT [] synonym: "CRYOPYRIN-ASSOCIATED PERIODIC SYNDROME 1" EXACT [] synonym: "FCAS1" EXACT [] xref: MIM:120100 xref: ORDO:47045 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome is_a: DOID:1555 ! urticaria [Term] id: DOID:0090063 name: familial cold autoinflammatory syndrome 2 alt_id: MIM:611762 def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18230725 "DO"] synonym: "FAMILIAL COLD AUTOINFLAMMATORY SYNDROME 2, SUSCEPTIBILITY TO" RELATED [] synonym: "FCAS2" EXACT [] synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [] synonym: "NLRP12-related condition" EXACT [] xref: MESH:C567090 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome [Term] id: DOID:0090064 name: familial cold autoinflammatory syndrome 3 def: "A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance of development of cutaneous urticaria, erythema and pruritus in response to cold exposure with. FCAS3 has_material_basis_in heterozygous deletion within the PLCG2 gene on chromosome 16q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22236196 "DO"] synonym: "FACU" EXACT [] synonym: "familial atypical cold urticaria" EXACT [] synonym: "FCAS3" EXACT [] synonym: "phospholipase C gamma 2-associated antibody deficiency and immune dysregulation" EXACT [] synonym: "PLAID" EXACT [] synonym: "PLCG2-associated antibody deficiency and immune dysregulation" EXACT [] xref: MIM:614468 xref: ORDO:300359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome is_a: DOID:1555 ! urticaria [Term] id: DOID:0090065 name: familial cold autoinflammatory syndrome 4 def: "A familial cold autoinflammatory syndrome that is characterized by episodic high fevers, urticaria-like rash, and arthralgias starting at 2-3 months of age and often induced by cold-exposure that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the NLRC4 gene on chromosome 2p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25385754 "DO"] synonym: "FCAS4" EXACT [] xref: ICD10CM:L50.2 xref: MIM:616115 xref: ORDO:47045 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090061 ! familial cold autoinflammatory syndrome created_by: rgd creation_date: 2017-02-16T00:00:00Z [Term] id: DOID:0090066 name: Fanconi-like syndrome alt_id: MIM:227850 alt_id: RDO:0002566 def: "A syndrome characterized by pancytopenia, immune deficiency and cutaneous malignancies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4692131 "DO"] xref: MESH:C536855 is_a: DOID:12450 ! pancytopenia is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9002605 ! Delayed Hypersensitivity is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:0090067 name: Fuhrmann syndrome alt_id: MIM:228930 def: "A bone development disease that is characterized by bowing of the femora, aplasia or hypoplasia of the fibulae and poly-, oligo-, and syndactyly that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the Wnt family member 7A (WNT7A) gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28917830 "DO", https://www.omim.org/entry/228930 "DO"] synonym: "FIBULAR APLASIA OR HYPOPLASIA, FEMORAL BOWING AND POLY-, SYN-, AND OLIGODACTYLY" EXACT [] xref: GARD:2410 xref: ICD10CM:Q74.8 xref: MESH:C538189 xref: ORDO:2854 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0090068 name: giant axonal neuropathy 1 alt_id: RDO:9002729 def: "An axonal neuopathy that is characterized by progressive motor and sensitive peripheral, central nervous system neuropathy, with axonal loss and giant axonal swellings filled with neurofilaments, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gigaxonin (GAN) gene on chromosome 16q23. (DO)" [https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/30709364 "DO", https://www.omim.org/entry/256850 "DO"] synonym: "GAN1" EXACT [] synonym: "giant axonal neuropathy 1 (GAN1)" EXACT [] synonym: "giant axonal neuropathy 1, autosomal recessive" EXACT [] synonym: "giant axonal neuropathy, autosomal recessive" EXACT [] xref: MIM:256850 xref: ORDO:643 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000462 ! Giant Axonal Neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0090069 name: giant axonal neuropathy 2 alt_id: MIM:610100 alt_id: RDO:0014795 def: "An axonal neuopathy that is characterized by distal sensory impairment, lower extremity muscle weakness and atrophy, and giant axonal swelling with neurofilament accumulation, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the DDB1- and CUL4-associated factor 8 (DCAF8) gene on chromosome 1q23. (DO)" [https://ghr.nlm.nih.gov/condition/giant-axonal-neuropathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/24500646 "DO", https://www.omim.org/entry/610100 "DO"] synonym: "GAN2" EXACT [] synonym: "giant axonal neuropathy 2, autosomal dominant" EXACT [] synonym: "giant axonal neuropathy, autosomal dominant" EXACT [] xref: MESH:C566444 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000462 ! Giant Axonal Neuropathy [Term] id: DOID:0090070 name: hypogonadotropic hypogonadism alt_id: DOID:7455 def: "A hypogonadism characterized by a impaired signalling by gonadotrpin relasing hormone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17761590 "DO"] synonym: "congenital idiopathic hypogonadotropic hypogonadism" EXACT [] synonym: "hypogonadotropic hypogonadism with or without anosmia" EXACT [] synonym: "hypogonadotropism" EXACT [] synonym: "isolated congenital gonadotropin deficiency" EXACT [] xref: MIM:PS147950 xref: ORDO:432 is_a: DOID:1924 ! hypogonadism [Term] id: DOID:0090071 name: hypogonadotropic hypogonadism 11 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TACR3 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19079066 "DO"] synonym: "HH11" EXACT [] xref: MIM:614840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090072 name: hypogonadotropic hypogonadism 12 with or without anosmia alt_id: MIM:614841 def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the GNRH1 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19535795 "DO"] synonym: "familial hypogonadotrophic eunuchoidism" EXACT [] synonym: "familial idiopathic gonadotropin deficiency" EXACT [] synonym: "familial idiopathic gonadotrpin deficiency" EXACT [] synonym: "FIGD" EXACT [] synonym: "HH12" EXACT [] synonym: "ISOLATED GNRH DEFICIENCY" EXACT [] xref: MESH:C535764 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:5003 ! eunuchism [Term] id: DOID:0090073 name: hypogonadotropic hypogonadism 13 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the KISS1 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22335740 "DO"] synonym: "HH13" EXACT [] synonym: "hypogonadotropic hypogonadism 13 without anosmia" NARROW [] xref: MIM:614842 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090074 name: hypogonadotropic hypogonadism 8 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14573733 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"] synonym: "HH8" EXACT [] synonym: "hypogonadotropic hypogonadism 8 without anosmia" NARROW [] xref: MIM:614837 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090075 name: hypogonadotropic hypogonadism 15 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the HS6ST1 gene on chromosome 2q14, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21700882 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"] synonym: "HH15" EXACT [] synonym: "hypogonadotropic hypogonadism 15 with anosmia" NARROW [] synonym: "HYPOGONADOTROPIC HYPOGONADISM 15 WITH ANOSMIA, SUSCEPTIBILITY TO" RELATED [] synonym: "HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA, SUSCEPTIBILITY TO" RELATED [] xref: ICD10CM:E23.0 xref: MIM:614880 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090076 name: hypogonadotropic hypogonadism 18 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous or homozygous mutation in the IL17RD gene on chromosome 3p14, sometimes in association with mutation in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"] synonym: "HH18" EXACT [] synonym: "hypogonadotropic hypogonadism 18 with anosmia" NARROW [] xref: MIM:615267 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090077 name: hypogonadotropic hypogonadism 4 with or without anosmia alt_id: MIM:610628 def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the prokineticin-2 gene (PROK2) on chromosome 3p13, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17054399 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18559922 "DO"] synonym: "HH4" EXACT [] synonym: "Kallmann syndrome 4" EXACT [] synonym: "PROK2-RELATED CONDITION" EXACT [] xref: MESH:C565696 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3614 ! Kallmann syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090078 name: hypogonadotropic hypogonadism 7 with or without anosmia alt_id: MIM:146110 def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the GNRHR gene on chromosome 4q13, sometimes in association with mutation in another gene. No patients with anosmia have been reported. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17235395 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9371856 "DO"] synonym: "HH7" EXACT [] synonym: "idiopathic hypogonadotropic hypogonadism" EXACT [] synonym: "IHH" EXACT [] synonym: "ISOLATED CONGENITAL HYPOGONADOTROPIC HYPOGONADISM" EXACT [] synonym: "isolated hypogonadotropic hypogonadism" EXACT [] xref: MESH:C562785 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism [Term] id: DOID:0090079 name: hypogonadotropic hypogonadism 17 with or without anosmia alt_id: RDO:9000881 def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the SPRY4 gene on chromosome 5q31, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"] synonym: "HH17" EXACT [] xref: ICD10CM:E23.0 xref: MIM:615266 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090080 name: hypogonadotropic hypogonadism 16 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the SEMA3A gene on chromosome 7, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22416012 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22927827 "DO"] synonym: "HH16" EXACT [] synonym: "SEMA3A-RELATED CONDITION" EXACT [] xref: MIM:614897 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090081 name: hypogonadotropic hypogonadism 22 with or without anosmia alt_id: RDO:9001195 def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the FEZF1 gene on chromosome 7q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25192046 "DO"] synonym: "HH22" EXACT [] synonym: "HYPOGONADOTROPIC HYPOGONADISM 22 WITH ANOSMIA" NARROW [] xref: MIM:616030 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090082 name: hypogonadotropic hypogonadism 20 with or without anosmia alt_id: RDO:9000885 def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGF17 gene on chromosome 8p21, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"] synonym: "HH20" EXACT [] synonym: "hypogonadotropic hypogonadism 20 without anosmia" NARROW [] xref: MIM:615270 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090083 name: hypogonadotropic hypogonadism 2 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FGFR1 gene on chromosome 8p11, sometimes in association with mutation in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12627230 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20696889 "DO"] synonym: "HH2" EXACT [] synonym: "hypogonadotropic hypogonadism 2 with anosmia" NARROW [] synonym: "hypogonadotropic hypogonadism 2 with anosmia, susceptibility to" RELATED [] synonym: "KAL2" EXACT [] synonym: "Kallmann syndrome 2" EXACT [] xref: MIM:147950 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:3614 ! Kallmann syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090084 name: hypogonadotropic hypogonadism 5 with or without anosmia def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the CHD7 gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18834967 "DO"] synonym: "CHD7-RELATED CONDITION" BROAD [] synonym: "HH5" EXACT [] xref: MIM:612370 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090085 name: hypogonadotropic hypogonadism 9 with or without anosmia def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15362570 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17235395 "DO"] synonym: "HH9" EXACT [] synonym: "NSMF-RELATED CONDITION" EXACT [] xref: MIM:614838 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090086 name: hypogonadotropic hypogonadism 6 with or without anosmia def: "A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has_material_basis_in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18596921 "DO"] synonym: "HH6" EXACT [] xref: MIM:612702 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090087 name: hypogonadotropic hypogonadism 14 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the WDR11 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20887964 "DO"] synonym: "HH14" EXACT [] synonym: "hypogonadotropic hypogonadism 14 with anosmia" NARROW [] xref: MIM:614858 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090088 name: hypogonadotropic hypogonadism 24 without anosmia alt_id: MIM:229070 def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the FSHB gene on chromosome 11p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8220432 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9271483 "DO"] synonym: "HH24" EXACT [] synonym: "hypogonadotropic hypogonadism 24 with or without anosmia" EXACT [] synonym: "isolated follicle-stimulating hormone deficiency" EXACT [] synonym: "isolated FSH deficiency" EXACT [] xref: ICD10CM:E23.6 xref: MESH:C537070 xref: ORDO:52901 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:14228 ! oligospermia [Term] id: DOID:0090089 name: hypogonadotropic hypogonadism 10 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous mutation in the TAC3 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19079066 "DO"] synonym: "HH10" EXACT [] synonym: "hypogonadotropic hypogonadism 10 without anosmia" NARROW [] xref: MIM:614839 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090090 name: hypogonadotropic hypogonadism 19 with or without anosmia alt_id: RDO:9000884 def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"] synonym: "HH19" EXACT [] xref: MIM:615269 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090091 name: hypogonadotropic hypogonadism 23 with or without anosmia alt_id: MIM:228300 def: "A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1727547 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22723313 "DO"] synonym: "46,XY disorder of sex development due to LHB deficiency" EXACT [] synonym: "46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency" EXACT [] synonym: "46,XY DSD due to LHB deficiency" EXACT [] synonym: "46,XY DSD due to luteinizing hormone subunit beta deficiency" EXACT [] synonym: "fertile eunuch syndrome" EXACT [] synonym: "HH23" EXACT [] synonym: "hypogonadotropic hypogonadism 23 without anosmia" EXACT [] synonym: "leydig cell hypoplasia due to LHB deficiency" EXACT [] synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" EXACT [] synonym: "Pasqualini syndrome" EXACT [] xref: ICD10CM:Q56.1 xref: MESH:C537919 xref: ORDO:325448 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:5003 ! eunuchism [Term] id: DOID:0090092 name: hypogonadotropic hypogonadism 3 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the PROKR2 gene on chromosome 20p12, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17054399 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18559922 "DO"] synonym: "HH3" EXACT [] synonym: "hypogonadotropic hypogonadism 3 without anosmia" NARROW [] synonym: "Kallmann syndrome 3" NARROW [] synonym: "Kallmann syndrome type 3, recessive" NARROW [] xref: MIM:244200 xref: MONDO:0009482 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3614 ! Kallmann syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090093 name: hypogonadotropic hypogonadism 21 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23643382 "DO"] synonym: "HH21" EXACT [] xref: MIM:615271 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:0090094 name: hypogonadotropic hypogonadism 1 with or without anosmia def: "A hypogonadotropic hypogonadism that has_material_basis_in mutation in the KAL1 gene on chromosome Xp22.3, sometimes in association with mutation in another gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1594017 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16882753 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17054399 "DO"] synonym: "ANOS1-RELATED CONDITION" EXACT [] synonym: "HH1" EXACT [] synonym: "hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1)" EXACT [] synonym: "KAL1" EXACT [] synonym: "Kallmann syndrome 1" EXACT [] synonym: "Kallmann syndrome type 1, X-linked" EXACT [] xref: MIM:308700 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3614 ! Kallmann syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0090100 name: ocular albinism with sensorineural deafness alt_id: MIM:300650 def: "An ocular albinism that is characterized by deafness and vestibular dysfunction and has_material_basis_in digenic inheritane of a mutation in the transcription factor gene MITF on chromosome 3p13 and in the tyrosinase TYR gene on chromosome 11q14.3 that MITF regulates. (DO)" [https://ghr.nlm.nih.gov/condition/ocular-albinism "DO", https://www.ncbi.nlm.nih.gov/pubmed/28356565 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29531335 "DO", https://www.omim.org/entry/103470 "DO"] synonym: "autosomal recessive Waardenburg syndrome type 2, with ocular albinism" EXACT [] synonym: "autosomal recessive Waardenburg syndrome type II, with ocular albinism" EXACT [] synonym: "deafness and ocular albinism" EXACT [] synonym: "digenic Waardenburg syndrome/albinism" EXACT [] synonym: "digenic Waardenburg syndrome/ocular albinism" EXACT [] synonym: "digenic Waardenburg syndrome type 2A with ocular albinism" EXACT [] synonym: "OASD" EXACT [] synonym: "ocular albinism, late-onset sensorineural deafness" EXACT [] synonym: "ocular albinism with late-onset sensorineural deafness" EXACT [] synonym: "WS2-OA" EXACT [] xref: ICD10CM:E70.3 xref: MESH:C537043 xref: ORDO:352740 is_a: DOID:0050633 ! ocular albinism 1 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0090101 name: lethal congenital glycogen storage disease of heart def: "A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36. (DO)" [https://ghr.nlm.nih.gov/gene/PRKAG2#conditions "DO", https://www.omim.org/entry/261740 "DO"] synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT [] synonym: "fatal congenital hypertrophic cardiomyopathy due to GSD" EXACT [] synonym: "fatal congenital nonlysosomal cardiac glycogenosis" EXACT [] synonym: "glycogen storage disease of heart" EXACT [] synonym: "phosphorylase kinase deficiency of heart" EXACT [] xref: ICD10CM:E74.0+ xref: ICD10CM:G73.6* xref: MESH:C564888 xref: MIM:261740 xref: MONDO:0009867 xref: ORDO:439854 is_a: DOID:0080015 ! physical disorder is_a: DOID:114 ! heart disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:0090102 name: autosomal dominant isolated macrothrombocytopenia 1 alt_id: MIM:613112 alt_id: OMIA:001001 def: "A thrombocytopenia that is characterized by macrothrombocytopenia with normal platelet aggregation and has_material_basis_in autosomal dominant inheritance of mutation in the tubulin beta-1 (TUBB1) gene on chromosome 20q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27291889 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27905099 "DO", https://www.omim.org/entry/613112 "DO"] synonym: "autosomal dominant macrothrombocytopenia TUBB1-related" EXACT [] synonym: "MACTHC1" EXACT [] synonym: "TUBB1-RELATED CONDITION" EXACT [] xref: MESH:C567747 xref: ORDO:140957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004194 ! Isolated Macrothrombocytopenia [Term] id: DOID:0090103 name: Huntington's disease-like 1 alt_id: MIM:603218 def: "A prion disease that is characterized by a phenocopy of Huntington disease (unwanted choreatic movements, behavioral and psychiatric disturbances and dementia) that has_material_basis_in autosomal dominant inheritance of 8 extra octapeptide repeats in the prion protein (PRNP) gene on chromosome 20p13. (DO)" [https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome "DO", https://www.omim.org/entry/603218 "DO"] synonym: "early-onset prion disease with prominent psychiatric features" EXACT [] synonym: "HDL1" EXACT [] synonym: "HLN1" EXACT [] synonym: "Huntington disease-like 1" EXACT [] synonym: "Huntington-Like Neurodegenerative Disorder 1" EXACT [] synonym: "Huntington-Like Neurodegenerative Disorder, Autosomal Dominant" EXACT [] xref: ICD10CM:G10 xref: MESH:C566398 xref: ORDO:157941 is_a: DOID:12858 ! Huntington's disease is_a: DOID:649 ! prion disease [Term] id: DOID:0090104 name: Huntington's disease-like 2 alt_id: MIM:606438 def: "A neurodegenerative disease characterized by involuntary movements and abnormalities of voluntary movements, psychiatric symptoms, weight loss, and dementia with onset in the fourth decade and death about 20 years after disease onset, and has_material_basis_in autosomal dominant inheritance of heterozygous expansion of a CAG/CTG repeat in the junctophilin-3 gene (JPH3) on chromosome 16q24. (DO)" [https://ghr.nlm.nih.gov/condition/huntington-disease-like-syndrome "DO", https://www.omim.org/entry/606438 "DO"] synonym: "HDL2" EXACT [] synonym: "Huntington Disease-Like 2" EXACT [] xref: MESH:C564708 xref: ORDO:98934 is_a: DOID:12859 ! choreatic disease is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:1307 ! dementia is_a: DOID:1561 ! cognitive disorder is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0090105 name: autosomal recessive hypercholesterolemia def: "A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has_material_basis_in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36. (DO)" [https://ghr.nlm.nih.gov/condition/hypercholesterolemia "DO", https://www.omim.org/entry/603813 "DO"] synonym: "ARH" EXACT [] synonym: "ARH1" EXACT [] synonym: "ARH2" EXACT [] synonym: "autosomal recessive hypercholesterolemia 1" EXACT [] synonym: "autosomal recessive hypercholesterolemia 2" EXACT [] synonym: "familial autosomal recessive hypercholesterolemia" EXACT [] synonym: "familial hypercholesterolemia 4" EXACT [] synonym: "FHCB1" EXACT [] synonym: "FHCB2" EXACT [] synonym: "FHCL4" EXACT [] synonym: "HOMOZYGOUS FAMILIAL HYPERCHOLESTEROLEMIA" EXACT [] xref: ICD10CM:E78.0 xref: MIM:603813 xref: NCI:C128114 xref: ORDO:391665 is_a: DOID:13810 ! familial hypercholesterolemia [Term] id: DOID:0090106 name: BH4-deficient hyperphenylalaninemia A alt_id: MIM:261640 def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in autosomal recessive inheritance of mutation in the gene encoding 6-pyruvoyl-tetrahydropterin synthase (PTS) on chromosome 11q23.1. (DO)" [https://ghr.nlm.nih.gov/condition/tetrahydrobiopterin-deficiency "DO", https://www.omim.org/entry/261640 "DO"] synonym: "6-pyruvoyl-tetrahydropterin synthase deficiency" EXACT [] synonym: "HPABH4A" EXACT [] synonym: "HYPERPHENYLALANINEMIA, BH4-DEFICIENT, DUE TO PARTIAL PTS DEFICIENCY" NARROW [] synonym: "Hyperphenylalaninemia, BH4-Deficient, Type A" EXACT [] synonym: "Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency" EXACT [] synonym: "PTS Deficiency" EXACT [] synonym: "tetrahydobioperin-deficient hyperphenylalaninemia due to PTS deficiency" EXACT [] synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia, due to PTS deficiency" EXACT [] xref: GARD:5682 xref: MESH:C535325 xref: NCI:C138171 xref: ORDO:13 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia is_a: DOID:9281 ! phenylketonuria [Term] id: DOID:0090107 name: autosomal dominant hypocalcemia 1 def: "An autosomal dominant hypocalcemia disease that has_material_basis_in heterozygous mutation in the calcium sensing receptor gene (CASR) on chromosome 3q21. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO"] synonym: "familial hypocalcemia" EXACT [] synonym: "hypercalciuric hypocalcemia" EXACT [] synonym: "Hypercalciuric Hypocalcemia, Familial" EXACT [] synonym: "HYPOC1" EXACT [] synonym: "hypoparathyroidism, autosomal dominant" EXACT [] xref: MESH:C562783 xref: MIM:601198 xref: MONDO:0011013 is_a: DOID:0090109 ! autosomal dominant hypocalcemia is_a: DOID:11199 ! hypoparathyroidism is_a: DOID:9001738 ! Hypercalciuria [Term] id: DOID:0090108 name: autosomal dominant hypocalcemia 2 def: "An autosomal dominant hypocalcemia that has_material_basis_in heterozygous mutation in the G protein subunit alpha 11 gene (GNA11) on chromosome 19p13. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO"] synonym: "HYPOC2" EXACT [] xref: MIM:615361 is_a: DOID:0090109 ! autosomal dominant hypocalcemia [Term] id: DOID:0090109 name: autosomal dominant hypocalcemia alt_id: GARD:2877 alt_id: ICD10CM:E20.8 alt_id: ORDO:428 def: "A metal metabolism disorder characterized by autosomal dominant inheritance of variable degrees of hypocalcemia with normal to low levels of parathyroid hormone. (DO)" [https://ghr.nlm.nih.gov/condition/autosomal-dominant-hypocalcemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/27803672 "DO"] synonym: "HYPOC" EXACT [] xref: MIM:PS601198 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:896 ! metal metabolism disorder is_a: DOID:9009050 ! Hypocalcemia [Term] id: DOID:0090110 name: immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome alt_id: MIM:304790 def: "An autoimmune disease that is characterized by onset in infancy of refractory diarrhea, endocrinopathies, type 1 diabetes mellitus, and dermatitis that has_material_basis_in X-linked recessive mutation in the forkhead box P3 (FOXP3) gene on chromosome Xp11. (DO)" [https://ghr.nlm.nih.gov/condition/immune-dysregulation-polyendocrinopathy-enteropathy-x-linked-syndrome "DO", https://www.omim.org/entry/304790 "DO"] synonym: "absence of islets of Langerhans" NARROW [] synonym: "autoimmune enteropathy type 1" EXACT [] synonym: "Autoimmunity-Immunodeficiency Syndrome, X-Linked" EXACT [] synonym: "Diabetes Mellitus, Congenital Insulin-Dependent, with Fatal Secretory Diarrhea" EXACT [] synonym: "Diarrhea, Polyendocrinopathy, Fatal Infection Syndrome, X-Linked" EXACT [] synonym: "DMSD" EXACT [] synonym: "Enteropathy, Autoimmune, with Hemolytic Anemia and Polyendocrinopathy" EXACT [] synonym: "IDDM-Secretory Diarrhea Syndrome" EXACT [] synonym: "IMMUNODEFICIENCY, POLYENDOCRINOPATHY, AND ENTEROPATHY, X-LINKED" NARROW [] synonym: "INSULIN-DEPENDENT DIABETES MELLITUS SECRETORY DIARRHEA SYNDROME" EXACT [] synonym: "IPEX" EXACT [] synonym: "Ipex Syndrome" EXACT [] synonym: "XLAAD" EXACT [] synonym: "X-linked autoimmunity-allergic dysregulation syndrome" EXACT [] synonym: "X-linked immunodysregulation, polyendocrinopathy, and enteropathy" EXACT [] synonym: "X-linked polyendocrinopathy, immune dysfunction, and diarrhea" EXACT [] synonym: "XPID" EXACT [] xref: GARD:1850 xref: MESH:C580192 xref: ORDO:37042 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:417 ! autoimmune disease is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0090111 name: PCWH syndrome alt_id: MIM:609136 def: "A syndrome that is characterized by the association of the features of Waardenburg-Shah syndrome (sensorineural hearing loss, pigmentary abnormalities and Hirschsprung disease; see this term) with neurological features, including: neonatal hypotonia, intellectual deficit (of variable severity), nystagmus, progressive spasticity, ataxia and epilepsy, and has_material_basis_in heterozygous mutation in the SRY-box 10 (SOX10) gene on chromosome 22q13. (DO)" [https://ghr.nlm.nih.gov/gene/SOX10#conditions "DO", https://www.omim.org/entry/609136 "DO"] synonym: "neurologic Waardenburg-Shah syndrome" EXACT [] synonym: "PCWH" EXACT [] synonym: "Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Hirschsprung disease-Waardenburg syndrome" EXACT [] synonym: "Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, and Hirschsprung Disease" EXACT [] synonym: "Waardenburg-Shah syndrome, neurologic variant" EXACT [] xref: ICD10CM:E75.2 xref: MESH:C563789 xref: ORDO:163746 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1389 ! polyneuropathy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:0090112 name: Nasu-Hakola disease alt_id: MIM:221770 def: "A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. (DO)" [https://ghr.nlm.nih.gov/condition/polycystic-lipomembranous-osteodysplasia-with-sclerosing-leukoencephalopathy "DO", https://www.ncbi.nlm.nih.gov/pubmed/30042649 "DO", https://www.omim.org/entry/221770 "DO"] synonym: "brain-bone-fat disease" EXACT [] synonym: "NHD" EXACT [] synonym: "PLO-SL" EXACT [] synonym: "PLOSL" EXACT [] synonym: "PLOSL1" EXACT [] synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy" EXACT [] synonym: "polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1" EXACT [] synonym: "prefrontal dementia with bone cysts" EXACT [] synonym: "presenile dementia with bone cysts" EXACT [] synonym: "progressive dementia with lipomembranous polycystic osteodysplasia" EXACT [] synonym: "progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease" EXACT [] xref: GARD:9921 xref: MESH:C536329 xref: ORDO:2770 is_a: DOID:225 ! syndrome is_a: DOID:8970 ! subacute sclerosing panencephalitis is_a: DOID:9009089 ! Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly [Term] id: DOID:0090113 name: Riddle syndrome alt_id: MIM:611943 def: "A syndrome that is characterized by increased radiosensitivity, immunodeficiency, mild motor control and learning difficulties, facial dysmorphism, and short stature, and that has_material_basis_in homozygous or compound heterozygous mutation in the ring finger protein 168 (RNF168) gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29255463 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30122534 "DO", https://www.omim.org/entry/611943 "DO"] synonym: "radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome" EXACT [] synonym: "RIDL" EXACT [] synonym: "RNF168 deficiency" EXACT [] xref: EFO:0009055 xref: MESH:C567453 xref: ORDO:420741 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:8927 ! learning disability is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0090114 name: Sorsby's fundus dystrophy alt_id: MIM:136900 alt_id: RDO:0013764 def: "A hereditary retinal dystrophy that is characterized by loss of central vision as a result of macular disease by the fourth to fifth decade and peripheral visual loss in late life, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the TIMP metallopeptidase inhibitor 3 (TIMP3) gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26077580 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26239453 "DO", https://www.omim.org/entry/136900 "DO"] synonym: "Fundus Dystrophy, Pseudoinflammatory, of Sorsby" EXACT [] synonym: "Macular Dystrophy, Hemorrhagic" EXACT [] synonym: "SFD" EXACT [] synonym: "Sorsby fundus dystrophy" EXACT [] xref: MESH:C564992 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4448 ! macular degeneration is_a: DOID:8500 ! hereditary retinal dystrophy [Term] id: DOID:0090115 name: spinocerebellar ataxia with axonal neuropathy 1 alt_id: MIM:607250 def: "A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. (DO)" [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124 "DO"] synonym: "autosomal recessive spinocerebellar ataxia with axonal neuropathy 1" EXACT [] synonym: "SCAN1" EXACT [] synonym: "spinocerebellar ataxia type 1 with axonal neuropathy" EXACT [] xref: GARD:10000 xref: ICD10CM:G60.2 xref: MESH:C537313 xref: ORDO:94124 is_a: DOID:9000588 ! Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy [Term] id: DOID:0090116 name: spondylocarpotarsal synostosis syndrome alt_id: MIM:272460 def: "A bone development disease that is characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism, and that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the filamin B (FLNB) gene on chromosome 3p14.3. (DO)" [https://ghr.nlm.nih.gov/condition/spondylocarpotarsal-synostosis-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/29566257 "DO"] synonym: "congenital scoliosis with unilateral unsegmented bar" EXACT [] synonym: "congenital synspondylism" EXACT [] synonym: "FLNB-related spectrum disorder" BROAD [] synonym: "SCT" EXACT [] synonym: "SCT syndrome" EXACT [] synonym: "spondylocarpotarsal syndrome" EXACT [] synonym: "spondylocarpotarsal synostosis" EXACT [] synonym: "vertebral fusion with carpal coalition" EXACT [] xref: GARD:4974 xref: ICD10CM:Q76.4 xref: MESH:C535780 xref: ORDO:3275 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060249 ! scoliosis is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0090117 name: thiamine-responsive megaloblastic anemia syndrome def: "A syndrome that is characterized by megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness where the anemia and sometimes diabetes is repsonsive to high doses of thiamine, and that has_material_basis_in homozygous mutation in the solute carrier family 19 member 2 (SLC19A2) gene on chromosome 1q24. (DO)" [https://ghr.nlm.nih.gov/condition/thiamine-responsive-megaloblastic-anemia-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1282/ "DO", https://www.omim.org/entry/249270 "DO"] synonym: "Abboud syndrome" EXACT [] synonym: "Rogers syndrome" EXACT [] synonym: "thiamine metabolism dysfunction syndrome 1" EXACT [] synonym: "thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type)" EXACT [] synonym: "thiamine-responsive anaemia syndrome" EXACT [] synonym: "thiamine-responsive anemia syndrome" EXACT [] synonym: "thiamine-responsive megaloblastic anaemia syndrome" EXACT [] synonym: "thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness" EXACT [] synonym: "thiamine-responsive megaloblastic anemia" EXACT [] synonym: "thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness" EXACT [] synonym: "thiamine responsive myelodysplasia" EXACT [] synonym: "THMD1" EXACT [] synonym: "TRMA" EXACT [] xref: GARD:9210 xref: MESH:C536510 xref: MIM:249270 xref: MONDO:0009575 xref: ORDO:498277 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070313 ! thiamine deficiency disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:13382 ! megaloblastic anemia is_a: DOID:225 ! syndrome is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:0090118 name: congenital amegakaryocytic thrombocytopenia def: "A thrombocytopenia that is characterized by a severe reduction in megakaryocyte and platelet numbers, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29191945 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29384262 "DO", https://www.omim.org/entry/604498 "DO"] synonym: "CAMT" EXACT [] synonym: "congenital amegakaryocytic thrombocytopenic purpura" EXACT [] xref: GARD:640 xref: MESH:C535982 xref: NCI:C115207 xref: ORDO:3319 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0090119 name: ankyloblepharon-ectodermal defects-cleft lip/palate syndrome alt_id: MIM:106260 def: "An ectodermal dysplasia that is characterized by ankyloblepharon filiforme adnatum and cleft lip and palate, and that has_material_basis_in heterozygous mutation in the tumor protein p63 (TP63) gene on chromosome 3q27. (DO)" [https://ghr.nlm.nih.gov/condition/ankyloblepharon-ectodermal-defects-cleft-lip-palate-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/29339502 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29956718 "DO"] synonym: "AEC SYNDROME" EXACT [] synonym: "ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE" EXACT [] synonym: "Ankyloblepharon-Ectodermal Defects-Cleft Lip and Palate Syndrome" EXACT [] synonym: "Ankyloblepharon-Ectodermal Defects-Cleft Lip-Cleft Palate" EXACT [] synonym: "Hay-Wells Syndrome" EXACT [] synonym: "Hay Wells syndrome dominant form" EXACT [] synonym: "Hay-Wells syndrome of ectodermal dysplasia" EXACT [] xref: MESH:C535847 xref: NCI:C157576 xref: ORDO:1071 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:0090120 name: hereditary neutrophilia def: "A leukocyte disease characterized by autosomal dominant inheritance of lifelong, persistent elevated neutrophil counts primarily consisting of segmented neutrophils that has_material_basis_in heterozygous mutation in the colony stimulating factor 3 receptor (CSF3R) gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25189721 "DO", https://www.omim.org/entry/162830 "DO"] xref: MESH:C563010 xref: MIM:162830 xref: MONDO:0008092 xref: ORDO:279943 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:0090122 name: aromatase excess syndrome alt_id: DOID:9000705 alt_id: MESH:C000591739 alt_id: MESH:C564416 alt_id: MIM:139300 alt_id: MIM:613546 def: "A reproductive system disease characterized by increased extraglandular aromatization of steroids resulting in heterosexual precocity in males and isosexual precocity in females, and has_material_basis_in autosomal dominant inheritance of fusion of the aromatase gene (CYP19A1) with various partners, brought about by translocations and resulting in gain of function of the CYP19A1 gene. (DO)" [https://ghr.nlm.nih.gov/condition/aromatase-excess-syndrome "DO", https://www.omim.org/entry/139300 "DO"] synonym: "AEXS" EXACT [] synonym: "aromatase deficiency" EXACT [] synonym: "familial gynecomastia" EXACT [] synonym: "familial gynecomastia, due to increased aromatase activity" EXACT [] synonym: "familial hyperestrogenism" EXACT [] synonym: "female pseudohermaphroditism due to placental aromatase deficiency" EXACT [] synonym: "hereditary gynecomastia" NARROW [] synonym: "hereditary prepubertal gynecomastia" EXACT [] synonym: "increased aromatase activity" EXACT [] xref: GARD:12949 xref: ICD10CM:E30.1 xref: MESH:C537436 xref: ORDO:178345 is_a: DOID:12698 ! gynecomastia is_a: DOID:15 ! reproductive system disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0090123 name: aromatic L-amino acid decarboxylase deficiency def: "An inherited metabolic disorder that is characterized by reduced production of serotonin and dopamine resulting in hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopa decarboxylase gene (DDC) on chromosome 7p12. (DO)" [https://ghr.nlm.nih.gov/condition/aromatic-l-amino-acid-decarboxylase-deficiency "DO", https://www.omim.org/entry/608643 "DO"] synonym: "AADCD" EXACT [] synonym: "AADC deficiency" EXACT [] synonym: "aromatic amino acid decarboxylase deficiency" EXACT [] synonym: "DDC deficiency" EXACT [] synonym: "deficiency of aromatic-L-amino-acid decarboxylase" EXACT [] synonym: "DOPA decarboxylase deficiency" EXACT [] xref: GARD:770 xref: ICD10CM:E70.81 xref: MESH:C537437 xref: MIM:608643 xref: MONDO:0012084 xref: NCI:C142085 xref: ORDO:35708 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0090124 name: neurogenic-type arthrogryposis multiplex congenita-2 alt_id: DOID:9006267 alt_id: MIM:208100 def: "An arthrogryposis multiplex congenita that is characterized by congenital contractures at the elbows and knees, myopathy, absence of muscle spindles, congenital heart disease and spinal motor neuron depletion, and has_material_basis_in autosomal recessive inheritance of homozygous mutation in the endoplasmic reticulum-golgi intermediate compartment protein 1 gene (ERGIC1) on chromosome region 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28317099 "DO", https://www.omim.org/entry/208100 "DO"] synonym: "AMC2" EXACT [] synonym: "AMCN" EXACT [] synonym: "AMC, neurogenic type" EXACT [] synonym: "arthrogryposis multiplex congenita neurogenic type" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita" EXACT [] synonym: "neurogenic arthrogryposis multiplex congenita 2" EXACT [] synonym: "neurogenic type of AMC" EXACT [] xref: MESH:C536614 xref: ORDO:1143 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:0090125 name: brain small vessel disease 1 alt_id: MIM:175780 def: "A brain small vessel disease that is characterized by fragile small blood vessels in the brain, leukoencephalopathy, increased risk of stroke, seizure and migraine and in some cases Axenfeld-Riegar anomaly that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the collagen type IV alpha 1 chain gene (COL4A1) on chromosome 13q34. (DO)" [https://ghr.nlm.nih.gov/condition/col4a1-related-brain-small-vessel-disease "DO", https://ghr.nlm.nih.gov/condition/familial-porencephaly "DO", https://www.omim.org/entry/175780 "DO"] synonym: "autosomal dominant retinal arteriolar tortuosity, infantile hemiparesis, and leukencephalopathy" EXACT [] synonym: "brain small vessel disease 1 with or without ocular anomalies" EXACT [] synonym: "brain small vessel disease with Axenfeld-Riegar anomaly" EXACT [] synonym: "brain small vessel disease with Axenfeld-Rieger anomaly" EXACT [] synonym: "brain small vessel disease with hemorrhage" EXACT [] synonym: "brain small vessel disease with or without ocular anomalies" EXACT [] synonym: "BSVD1" EXACT [] synonym: "COL4A1-related brain small-vessel disease" EXACT [] synonym: "COL4A1-related brain small vessel disease with hemorrhage" EXACT [] synonym: "COL4A1-related familial vascular leukoencephalopathy" EXACT [] synonym: "COL4A1-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome" EXACT [] synonym: "Gould syndrome 1" EXACT [] synonym: "infantile hemiparesis" EXACT [] synonym: "infantile hemiplegia with porencephaly" EXACT [] synonym: "leukoencephalopathy with Axenfeld-Riegar anomaly" EXACT [] synonym: "leukoencephalopathy with Axenfeld-Rieger anomaly" EXACT [] synonym: "porencephaly 1" RELATED [] synonym: "porencephaly type 1" RELATED [] synonym: "porencephaly type 1, autosomal dominant" RELATED [] synonym: "retinal arteriolar tortuosity, infantile hemiparesis, and leukoencephalopathy, autosomal dominant" EXACT [] xref: MESH:C564372 xref: ORDO:36383 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112313 ! brain small vessel disease is_a: DOID:9000062 ! Retinal Hemorrhage is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0090126 name: branched-chain keto acid dehydrogenase kinase deficiency def: "An amino acid metabolic disorder that is characterized by autism, epilepsy, intellectual disability, and reduced levels of branched-chain amino acids that has_material_basis_in homozygous mutation in the branched chain keto acid dehydrogenase kinase gene (BCKDK) on chromosome 16p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24449431 "DO", https://www.omim.org/entry/614901 "DO"] synonym: "autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency" EXACT [] synonym: "BCKDKD" EXACT [] synonym: "BCKDK deficiency" EXACT [] xref: MIM:614923 xref: ORDO:308410 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:1826 ! epilepsy is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0090127 name: camptodactyly-arthropathy-coxa vara-pericarditis syndrome alt_id: MIM:208250 def: "A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29397575 "DO", https://www.omim.org/entry/208250 "DO"] synonym: "arthropathy camptodactyly syndrome" EXACT [] synonym: "CACP" EXACT [] synonym: "CACP syndrome" EXACT [] synonym: "camptodactyly arthropathy pericarditis syndrome" EXACT [] synonym: "CAP syndrome" EXACT [] synonym: "congenital familial hypertrophic synovitis" EXACT [] synonym: "familial fibrosing serositis" EXACT [] synonym: "Jacobs syndrome" EXACT [] synonym: "PAC syndrome" EXACT [] xref: EFO:0009028 xref: MESH:C537560 xref: ORDO:2848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14286 ! neurogenic arthropathy is_a: DOID:225 ! syndrome is_a: DOID:2703 ! synovitis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9005226 ! Coxa Vara [Term] id: DOID:0090128 name: Carvajal syndrome alt_id: MIM:605676 def: "A Naxos disease that is characterized by dilated cardiomyopathy, woolly hair, and keratoderma that has_material_basis_in homozygous mutation in the desmoplakin gene on chromosome 6p24. (DO)" [https://ghr.nlm.nih.gov/condition/keratoderma-with-woolly-hair "DO", https://www.omim.org/entry/605676 "DO"] synonym: "DCWHK" EXACT [] synonym: "dilated cardiomyopathy with woolly hair and keratoderma" EXACT [] synonym: "dilated cardiomyopathy, woolly hair, keratoderma" EXACT [] synonym: "Epidermolytic palmoplantar keratoderma, woolly hair, and dilated cardiomyopathy" EXACT [] synonym: "palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair" EXACT [] xref: GARD:5595 xref: MESH:C535581 xref: ORDO:65282 is_a: DOID:0070554 ! palmoplantar keratoderma and woolly hair is_a: DOID:0080551 ! Naxos disease is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:225 ! syndrome [Term] id: DOID:0090129 name: carnitine palmitoyltransferase I deficiency def: "A lipid metabolism disorder that is characterized by impaired mitochondrial oxidation of long chain fatty acids in the liver and kidneys resulting in episodes of illness- or fasting-induced hypoketotic hypoglycemia, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase 1A gene (CPT1A) on chromosome 11q13. (DO)" [https://ghr.nlm.nih.gov/condition/carnitine-palmitoyltransferase-i-deficiency "DO", https://www.omim.org/entry/255120 "DO"] synonym: "carnitine palmitoyl transferase 1A deficiency" EXACT [] synonym: "carnitine palmitoyl transferase 1 deficiency" EXACT [] synonym: "carnitine palmitoyltransferase 1 deficiency" EXACT [] synonym: "Carnitine Palmitoyltransferase IA Deficiency" EXACT [] synonym: "carnitine palmitoyl transferase IA deficiency" EXACT [] synonym: "CARNITINE PALMITOYLTRANSFERASE TYPE I DEFICIENCY" EXACT [] synonym: "CPT 1A Deficiency" EXACT [] synonym: "CPT1A deficiency" EXACT [] synonym: "CPT Deficiency, Hepatic, Type I" EXACT [] synonym: "CPT deficiency, hepatic, type IA" EXACT [] synonym: "CPT I deficiency" EXACT [] synonym: "hepatic carnitine palmitoyl transferase 1 deficiency" EXACT [] synonym: "hepatic carnitine palmitoyltransferase 1 deficiency" EXACT [] synonym: "hepatic carnitine palmitoyl transferase I deficiency" EXACT [] synonym: "L-CPT1 deficiency" EXACT [] synonym: "liver form of carnitine palmitoyltransferase deficiency" EXACT [] xref: GARD:1120 xref: ICD10CM:E71.3 xref: MESH:C535588 xref: MIM:255120 xref: MONDO:0009705 xref: ORDO:156 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:0090130 name: cortical dysplasia-focal epilepsy syndrome alt_id: MIM:610042 def: "A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27439707 "DO", https://www.omim.org/entry/610042 "DO"] synonym: "CDFES" EXACT [] synonym: "CDFE syndrome" EXACT [] synonym: "PITT-HOPKINS-LIKE SYNDROME 1" EXACT [] synonym: "PTHSL1" NARROW [] xref: MESH:C567657 xref: NCI:C133743 xref: ORDO:163681 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060488 ! Pitt-Hopkins syndrome [Term] id: DOID:0090131 name: complex cortical dysplasia with other brain malformations def: "A brain disease characterized by aberrant neuronal migration and disturbed axonal guidance resulting in variable brain malformations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20829227 "DO"] synonym: "CDCBM" EXACT [] synonym: "Cerebral Cortical Dysplasia" EXACT [] synonym: "cerebral cortical dysplasias" EXACT [] synonym: "Cortical Development Malformation" EXACT [] synonym: "Cortical Development Malformations" EXACT [] synonym: "Cortical Dysplasia" EXACT [] synonym: "Cortical Dysplasias" EXACT [] synonym: "FCD" NARROW [] synonym: "Focal cortical dysplasia" NARROW [] synonym: "Malformations of Cerebral Cortex Development" EXACT [] synonym: "malformations of cortical development" EXACT [] xref: MESH:D054220 xref: MIM:PS614039 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:936 ! brain disease [Term] id: DOID:0090132 name: complex cortical dysplasia with other brain malformations 7 def: "A complex cortical dysplasia with other brain malformations that is characterized by abnormalities in coritcal brain development that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2B class IIb (TUBB2B) gene on chromosome 6p25. (DO)" [https://ghr.nlm.nih.gov/condition/polymicrogyria "DO", https://www.ncbi.nlm.nih.gov/pubmed/30016746 "DO", https://www.omim.org/entry/610031 "DO"] synonym: "CDCBM7" EXACT [] synonym: "PMGYSA" EXACT [] synonym: "polymicrogyria due to TUBB2B mutation" EXACT [] synonym: "POLYMICROGYRIA, SYMMETRIC OR ASYMMETRIC" EXACT [] synonym: "TUBB2B-RELATED CONDITION" EXACT [] xref: MIM:610031 xref: ORDO:300573 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:0090133 name: complex cortical dysplasia with other brain malformations 2 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 5C (KIF5C) gene on chromosome 2q23. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29048727 "DO", https://www.omim.org/entry/615282 "DO"] synonym: "CDCBM2" EXACT [] xref: MIM:615282 xref: MONDO:0014116 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:630 ! genetic disease [Term] id: DOID:0090134 name: complex cortical dysplasia with other brain malformations 3 alt_id: RDO:9000937 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the kinesin family member 2A (KIF2A) gene on chromosome 5q12. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29077851 "DO", https://www.omim.org/entry/615411 "DO"] synonym: "CDCBM3" EXACT [] xref: MIM:615411 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:630 ! genetic disease [Term] id: DOID:0090135 name: complex cortical dysplasia with other brain malformations 5 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 2A class IIa (TUBB2A) gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.omim.org/entry/615763 "DO"] synonym: "CDCBM5" EXACT [] synonym: "TUBB2A-RELATED CONDITION" EXACT [] xref: MIM:615763 xref: NCI:C189285 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:630 ! genetic disease [Term] id: DOID:0090136 name: complex cortical dysplasia with other brain malformations 6 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta class I (TUBB) gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30936767 "DO", https://www.omim.org/entry/615771 "DO"] synonym: "CDCBM56" RELATED [] synonym: "CDCBM6" EXACT [] xref: MIM:615771 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:630 ! genetic disease [Term] id: DOID:0090137 name: complex cortical dysplasia with other brain malformations 1 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin beta 3 class III (TUBB3) gene on chromosome 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/30016746 "DO", https://www.omim.org/entry/614039 "DO"] synonym: "CDCBM1" EXACT [] synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT [] synonym: "TUBB3-RELATED CONDITION" BROAD [] synonym: "TUBB3-related disorder" BROAD [] synonym: "TUBB3-related tubulinopathy" BROAD [] xref: GARD:13032 xref: MIM:614039 xref: ORDO:300570 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:630 ! genetic disease [Term] id: DOID:0090138 name: complex cortical dysplasia with other brain malformations 4 alt_id: RDO:9000938 def: "A complex cortical dysplasia with other brain malformations that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the tubulin gamma 1 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO", https://www.omim.org/entry/615412 "DO"] synonym: "CDCBM4" EXACT [] xref: MIM:615412 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:630 ! genetic disease [Term] id: DOID:0090139 name: cortisone reductase deficiency alt_id: RDO:0002041 def: "An endocrine system disease characterized by failure to regenerate the active glucocorticoid cortisol from cortisone resulting in adrenal hyperandrogenism. (DO)" [https://en.wikipedia.org/wiki/Cortisone_reductase_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/22476103 "DO"] synonym: "11-beta-hydroxysteroid dehydrogenase, type i, deficiency of" EXACT [] synonym: "Adrenal Androgen Excess" EXACT [] synonym: "Adrenal Hyperandrogenism" EXACT [] synonym: "CORTRD" EXACT [] xref: EFO:0009007 xref: GARD:9882 xref: MESH:C536447 xref: MIM:PS604931 is_a: DOID:11613 ! hyperandrogenism is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:9004507 ! Hirsutism [Term] id: DOID:0090140 name: cortisone reductase deficiency 2 def: "A cortisone reductase deficiency that is characterized by a failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the 11-beta-hydroxysteroid dehydrogenase type I (HSD11B1) gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29843121 "DO", https://www.omim.org/entry/614662 "DO"] synonym: "CORTRD2" EXACT [] xref: MIM:614662 xref: NCI:C131084 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0090139 ! cortisone reductase deficiency [Term] id: DOID:0090141 name: cortisone reductase deficiency 1 alt_id: RDO:9003339 def: "A cortisone reductase deficiency that is characterized by failure to regenerate cortisol via the enzyme 11-beta-hydroxysteroid dehydrogenase which requires NADPH regeneration by hexose-6-phosphate dehydrogenase, resulting in ACTH-mediated adrenal hyperandrogenism. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the hexose-6-phosphate dehydrogenase gene (H6PD) on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29843121 "DO", https://www.omim.org/entry/604931 "DO"] synonym: "CORTRD1" EXACT [] xref: MIM:604931 xref: NCI:C131849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0090139 ! cortisone reductase deficiency created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:0090142 name: cystathioninuria def: "An amino acid metabolic disorder that is characterized by elevated plasma and urinary cystathionine levels that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding cystathionine gamma-lyase (CTH) on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20584029 "DO", https://www.omim.org/entry/219500 "DO"] synonym: "cystathionase deficiency" EXACT [] synonym: "cystathione gamma-lyase deficiency syndrome" EXACT [] synonym: "gamma-cystathionase deficiency" EXACT [] xref: GARD:2428 xref: ICD10CM:E72.19 xref: MESH:C535408 xref: MESH:C562680 xref: MIM:219500 xref: MONDO:0009058 xref: NCI:C129070 xref: ORDO:212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9279 ! hyperhomocysteinemia [Term] id: DOID:0090143 name: brachyolmia-amelogenesis imperfecta syndrome alt_id: MIM:601216 def: "A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30887145 "DO", https://www.omim.org/entry/601216 "DO"] synonym: "DASS" EXACT [] synonym: "dental anomalies and short stature" EXACT [] synonym: "platyspondyly with amelogenesis imperfecta" EXACT [] synonym: "selective tooth agenesis 6" EXACT [] synonym: "skeletal dysplasia with amelogenesis imperfecta and platyspondyly" EXACT [] synonym: "STHAG6" EXACT [] synonym: "Verloes Bourguignon syndrome" EXACT [] xref: GARD:5478 xref: ICD10CM:Q76.3 xref: MESH:C536538 xref: MESH:C567755 xref: ORDO:2899 is_a: DOID:0050690 ! brachyolmia is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:225 ! syndrome [Term] id: DOID:0090144 name: Donnai-Barrow syndrome alt_id: MIM:222448 def: "A syndrome that is characterized by facial and ocular abnormalities, sensorineural hearing loss, agenesis of the corpus callosum, variable intellectual disability, and proteinuria that has_material_basis_in homozygous or compound heterozygous mutation in the LDL receptor related protein 2 gene (LRP2) on chromosome 2q31. (DO)" [https://ghr.nlm.nih.gov/condition/donnai-barrow-syndrome "DO", https://www.omim.org/entry/222448 "DO"] synonym: "DBS-FOAR syndrome" EXACT [] synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness" EXACT [] synonym: "diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, sensorineural deafness, and proteinuria" EXACT [] synonym: "diaphragmatic hernia-exomphalos-corpus callosum agenesis" EXACT [] synonym: "diaphragmatic hernia-exomphalos-hypertelorism syndrome" EXACT [] synonym: "diaphragmatic hernia-hypertelorism-myopia-deafness syndrome" EXACT [] synonym: "facio-oculo-acoustico-renal syndrome" EXACT [] synonym: "faciooculoacousticorenal syndrome" EXACT [] synonym: "FOAR syndrome" EXACT [] synonym: "Holmes-Schepens syndrome" EXACT [] synonym: "LRP2-RELATED CONDITION" EXACT [] synonym: "syndrome of ocular and facial anomalies, telecanthus and deafness" EXACT [] xref: GARD:1899 xref: MESH:C536390 xref: ORDO:2143 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:11830 ! myopia is_a: DOID:225 ! syndrome is_a: DOID:3827 ! congenital diaphragmatic hernia is_a: DOID:447 ! renal tubular transport disease is_a: DOID:576 ! proteinuria is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:0090145 name: dopamine beta-hydroxylase deficiency alt_id: MIM:223360 def: "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34. (DO)" [https://ghr.nlm.nih.gov/condition/dopamine-beta-hydroxylase-deficiency "DO", https://www.omim.org/entry/223360 "DO"] synonym: "congenital dopamine beta hydroxylase deficiency" EXACT [] synonym: "dopamine b-hydroxylase" EXACT [] synonym: "noradrenaline deficiency" EXACT [] synonym: "norepinephrine deficiency" EXACT [] synonym: "orthostatic hypotension 1" EXACT [] synonym: "ORTHYP1" EXACT [] xref: GARD:1903 xref: MESH:C535600 xref: ORDO:230 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9005950 ! Orthostatic Hypotension [Term] id: DOID:0110000 name: 3-methylglutaconic aciduria type 5 alt_id: MIM:610198 alt_id: RDO:0014268 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16055927 "DO"] synonym: "3-methylglutaconic aciduria type V" EXACT [] synonym: "DCMA" EXACT [] synonym: "DCMA syndrome" EXACT [] synonym: "dilated cardiomyopathy with ataxia" EXACT [] synonym: "MGA5" EXACT [] synonym: "MGA type V" EXACT [] synonym: "MGCA5" EXACT [] xref: MESH:C565706 xref: NCI:C173146 xref: ORDO:66634 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110001 name: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome alt_id: RDO:9000156 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22683713 "DO"] synonym: "3-methylglutaconic aciduria type 6" EXACT [] synonym: "3-methylglutaconic aciduria type VI" EXACT [] synonym: "MEGDEL" EXACT [] synonym: "MEGDEL syndrome" EXACT [] synonym: "MGCA6" EXACT [] synonym: "SERAC1-RELATED NEUROLOGICAL DISORDER" EXACT [] xref: MIM:614739 xref: ORDO:352328 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:225 ! syndrome is_a: DOID:3652 ! Leigh disease is_a: DOID:9008681 ! Deafness [Term] id: DOID:0110002 name: 3-methylglutaconic aciduria type 1 alt_id: MIM:250950 def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12434311/ "DO"] synonym: "3-methylglutaconic aciduria type I" EXACT [] synonym: "3-methylglutaconyl-CoA hydratase deficiency" EXACT [] synonym: "3MG-CoA hydratase deficiency" EXACT [] synonym: "MGA1" EXACT [] synonym: "MGA type I" EXACT [] synonym: "MGCA1" EXACT [] xref: MESH:C562801 xref: ORDO:67046 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria [Term] id: DOID:0110003 name: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia def: "A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25597510 "DO"] synonym: "3-methylglutaconic aciduria type 7" EXACT [] synonym: "3-methylglutaconic aciduria type VII" EXACT [] synonym: "3-methylglutaconic aciduria type VII, with cataracts, neurologic involvement and neutropenia" EXACT [] synonym: "3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia, autosomal recessive" NARROW [] synonym: "3-methylglutaconic aciduria with neurologic involvement and neutropenia, autosomal dominant" NARROW [] synonym: "MEGCANN" EXACT [] synonym: "MGA7" EXACT [] synonym: "MGCA7" EXACT [] xref: EFO:0009014 xref: ORDO:445038 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:1227 ! neutropenia is_a: DOID:83 ! cataract is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:0110004 name: 3-methylglutaconic aciduria type 3 alt_id: MIM:258501 def: "A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11668429 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12126933 "DO"] synonym: "3-methylglutaconic aciduria, type III" EXACT [] synonym: "autosomal recessive optic atrophy plus syndrome" EXACT [] synonym: "autosomal recessive optic atrophy type 3" EXACT [] synonym: "Costeff optic atrophy syndrome" EXACT [] synonym: "Costeff syndrome" EXACT [] synonym: "infantile optic atrophy with chorea and spastic paraplegia" EXACT [] synonym: "Iraqi Jewish optic atrophy plus" EXACT [] synonym: "MGA3" EXACT [] synonym: "MGA, type III" EXACT [] synonym: "MGCA3" EXACT [] synonym: "OPA3, Autosomal Recessive" EXACT [] synonym: "Optic Atrophy 3, Autosomal Recessive" EXACT [] synonym: "optic atrophy plus syndrome" EXACT [] xref: MESH:C535311 xref: ORDO:67047 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:12859 ! choreatic disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:5723 ! optic atrophy [Term] id: DOID:0110005 name: Leber congenital amaurosis 9 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the NMNAT1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22842230 "DO"] synonym: "amaurosis congenita of Leber, type 9" EXACT [] synonym: "LCA9" EXACT [] synonym: "Leber congenital amaurosis, type 9" EXACT [] xref: MESH:C536603 xref: MIM:608553 xref: MONDO:0012056 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110006 name: 3-methylglutaconic aciduria type 4 alt_id: MIM:250951 alt_id: RDO:0014040 def: "A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21646875 "DO"] synonym: "3-methylglutaconic aciduria type IV" EXACT [] synonym: "MGA4" EXACT [] synonym: "MGA Type IV" EXACT [] synonym: "MGCA4" EXACT [] xref: MESH:C565393 xref: ORDO:67048 is_a: DOID:0060336 ! 3-methylglutaconic aciduria is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0110007 name: achromatopsia 2 alt_id: MIM:216900 alt_id: OMIA:001481 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGA3 gene on chromosome 2q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11536077 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9662398 "DO"] synonym: "ACHM2" EXACT [] synonym: "RMCH2" EXACT [] synonym: "Rod monochromacy 2" EXACT [] synonym: "Rod monochromatism 2" EXACT [] synonym: "total color blindness" EXACT [] synonym: "total colorblindness" EXACT [] xref: GARD:9649 xref: MESH:C536128 xref: NCI:C168757 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110008 name: achromatopsia 3 alt_id: MIM:262300 alt_id: OMIA:001365 alt_id: OMIA:001676 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the CNGB3 gene on chromosome 8q2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10888875 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17265047 "DO"] synonym: "ACHM1" EXACT [] synonym: "ACHM 3" EXACT [] synonym: "ACHM3" EXACT [] synonym: "Achromatopsia (cone degeneration, hemeralopia)" EXACT [] synonym: "Achromatopsia with myopia" EXACT [] synonym: "AMAL" NARROW [] synonym: "GSPT" NARROW [] synonym: "Pingelapese" EXACT [] synonym: "Pingelapese Blindness" EXACT [] synonym: "RMCH1" EXACT [] synonym: "ROD MONOCHROMACY 1" EXACT [] synonym: "ROD MONOCHROMATISM 1" EXACT [] synonym: "total colorblindness with myopia" EXACT [] xref: GARD:9650 xref: MESH:C536129 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110009 name: achromatopsia 7 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the ATF6 gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26029869 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26063662 "DO"] synonym: "ACHM7" EXACT [] synonym: "ATF6-RELATED CONDITION" EXACT [] xref: MIM:616517 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:0110010 name: achromatopsia 4 alt_id: MIM:613856 def: "An achromatopsia that has_material_basis_in homozygous or compound heterozygous mutation in the GNAT2 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12205108 "DO"] synonym: "ACHM4" EXACT [] xref: MESH:C564206 is_a: DOID:13911 ! achromatopsia is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0110011 name: advanced sleep phase syndrome 1 alt_id: MIM:604348 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER2 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11232563 "DO"] synonym: "familial advanced sleep phase syndrome 1" EXACT [] synonym: "FASPS1" EXACT [] xref: MESH:C565789 is_a: DOID:0050628 ! advanced sleep phase syndrome [Term] id: DOID:0110012 name: advanced sleep phase syndrome 2 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the CSNK1D gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15800623 "DO"] synonym: "familial advanced sleep phase syndrome 2" EXACT [] synonym: "FASPS2" EXACT [] xref: MIM:615224 is_a: DOID:0050628 ! advanced sleep phase syndrome [Term] id: DOID:0110013 name: advanced sleep phase syndrome 3 def: "An advanced sleep phase syndrome that has_material_basis_in heterozygous mutation in the PER3 gene on chromosome 1p36.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26903630 "DO"] synonym: "familial advanced sleep phase syndrome 3" EXACT [] synonym: "FASPS3" EXACT [] xref: MIM:616882 is_a: DOID:0050628 ! advanced sleep phase syndrome is_a: DOID:630 ! genetic disease created_by: rgd creation_date: 2017-08-08T00:00:00Z [Term] id: DOID:0110014 name: age related macular degeneration 1 alt_id: MIM:603075 def: "An age related macular degeneration associated with polymorphism in the hemicentin gene (HMCN1) on chromosome 1q25.3-q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14570714 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9715689 "DO"] synonym: "age related maculopathy 1" EXACT [] synonym: "APOE2 Isoforms" RELATED [] synonym: "ARMD1" EXACT [] xref: MESH:C566411 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110015 name: age related macular degeneration 2 alt_id: MIM:153800 def: "An age related macular degeneration conferred by variation in the ABCA4 gene on chromosome 1p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10396622 "DO"] synonym: "age related macular degeneration 2, susceptibility to" RELATED [] synonym: "age related maculopathy 2" EXACT [] synonym: "ARMD2" EXACT [] xref: MESH:C562479 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110016 name: Leber congenital amaurosis 2 alt_id: MIM:204100 alt_id: OMIA:001222 def: "A Leber congenital amaurosis that is characterized by night blindness, some transient improvement in vision, and eventual progressive visual loss and has_material_basis_in mutation in the RPE65 gene on chromosome 1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326927 "DO"] synonym: "amaurosis congenita of Leber II" EXACT [] synonym: "EARLY-ONSET RETINAL DYSTROPHY" EXACT [] synonym: "LCA2" EXACT [] synonym: "Leber congenital amaurosis type 2" EXACT [] synonym: "Leber congenital amaurosis type II" EXACT [] synonym: "RPE65-related disorder" BROAD [] xref: MESH:C536601 xref: MONDO:0008765 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110017 name: age related macular degeneration 4 alt_id: MIM:610698 def: "An age related macular degeneration conferred by variation in the CFH gene on chromosome 1q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15761120 "DO"] synonym: "ARMD4" EXACT [] xref: MESH:C565196 xref: NCI:C174215 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110018 name: age related macular degeneration 6 alt_id: MIM:613757 def: "An age related macular degeneration conferred by heterozygous mutation in the RAXL1 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15028672 "DO"] synonym: "ARMD6" EXACT [] xref: MESH:C563674 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110019 name: age related macular degeneration 7 alt_id: MIM:610149 def: "An age related macular degeneration conferred by variation in the HTRA1 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17053108 "DO"] synonym: "age-related macular degeneration, neovascular type, susceptibility" RELATED [] synonym: "ARMD7" EXACT [] synonym: "MACULAR DEGENERATION, AGE-RELATED, NEOVASCULAR TYPE" RELATED [] synonym: "MACULAR DEGENERATION, AGE-RELATED, WET TYPE" RELATED [] synonym: "MACULAR DEGENERATION, AGE-RELATED, WET TYPE, SUSCEPTIBILITY TO" RELATED [] synonym: "susceptibility to neovascular type of age-related macular degeneration" RELATED [] xref: MESH:C565718 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110020 name: age related macular degeneration 8 def: "An age related macular degeneration that has_material_basis_in mutation in the ARMS2 gene, originally designated LOC387715, on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17210852 "DO"] synonym: "ARMD8" EXACT [] xref: MIM:613778 is_a: DOID:10871 ! age related macular degeneration is_a: DOID:630 ! genetic disease [Term] id: DOID:0110021 name: age related macular degeneration 9 alt_id: MIM:611378 def: "An age related macular degeneration conferred by variation in the C3 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24036952 "DO"] synonym: "age related macular degeneration 9, susceptibility to" RELATED [] synonym: "ARMD9" EXACT [] synonym: "C3S/C3F POLYMORPHISM" RELATED [] xref: MESH:C566958 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110022 name: age related macular degeneration 10 alt_id: MIM:611488 def: "An age related macular degeneration associated with variation in the genomic region 9:112,100,000-127,500,000 (GRCh38). TLR4 has been put forth as a candidate gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14691731 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15829498 "DO"] synonym: "age related macular degeneration 10, susceptibility to" RELATED [] synonym: "ARMD10" EXACT [] xref: MESH:C566935 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110023 name: age related macular degeneration 11 alt_id: MIM:611953 def: "An age related macular degeneration conferred by variation in the CST3 gene on chromosome 20p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11815350 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25893795 "DO"] synonym: "ARMD11" EXACT [] xref: MESH:C567450 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110024 name: age related macular degeneration 12 def: "An age related macular degeneration conferred by mutation in the CX3CR1 gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15208270 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17909628 "DO"] synonym: "ARMD12" EXACT [] xref: MIM:613784 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110025 name: age related macular degeneration 13 def: "An age related macular degeneration conferred by heterozygous mutation in the CFI gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23685748 "DO"] synonym: "age-related macular degeneration 13, susceptibility to" RELATED [] synonym: "ARMD13" EXACT [] xref: MIM:615439 xref: NCI:C187704 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110026 name: age related macular degeneration 14 def: "An age related macular degeneration associated with variation at or near the C2 and CFB genes on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16518403 "DO"] synonym: "ARMD14" EXACT [] synonym: "C2-RELATED DISORDER" BROAD [] synonym: "MACULAR DEGENERATION, AGE-RELATED, REDUCED RISK OF" NARROW [] xref: MIM:615489 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110027 name: age related macular degeneration 15 def: "An age related macular degeneration conferred by variation in the C9 gene on chromosome 5p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24036952 "DO"] synonym: "ARMD15" EXACT [] synonym: "C9-RELATED CONDITION" BROAD [] xref: MIM:615591 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110028 name: age related macular degeneration 5 def: "An age related macular degeneration onferred by heterozygous mutation in the ERCC6 gene on chromosome 10q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16754848 "DO"] synonym: "ARMD5" EXACT [] xref: MIM:613761 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:0110029 name: alpha thalassemia-intellectual disability syndrome type 1 alt_id: MIM:141750 def: "An alpha thalassemia that has_material_basis_in a deletion in chromosome 16p that involves the alpha-1 (HBA1) and alpha-2 (HBA2) genes, among others. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15921166 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18076105 "DO"] synonym: "alpha thalassemia/impaired intellectual development syndrome, deletion type" EXACT [] synonym: "alpha-thalassemia/mental retardation syndrome, chromosome 16-related" EXACT [] synonym: "alpha-thalassemia/mental retardation syndrome, type 1" EXACT [] synonym: "alpha thalassemia-intellectual disability syndrome, deletion type" EXACT [] synonym: "alpha-thalassemia-intellectual disability syndrome linked to chromosome 16" EXACT [] synonym: "Alpha-Thalassemia Mental Retardation Syndrome, Deletion-Type" EXACT [] synonym: "alpha thalassemia-retardation syndrome" EXACT [] synonym: "ATR-16 syndrome" EXACT [] synonym: "ATR, deletion-type" EXACT [] synonym: "ATR syndrome, deletion type" EXACT [] synonym: "ATR syndrome linked to chromosome 16" EXACT [] synonym: "CHROMOSOME 16p DELETION SYNDROME" EXACT [] synonym: "HBHR" EXACT [] synonym: "hemoglobin H-related mental retardation" EXACT [] synonym: "mental retardation with hemoglobin H" EXACT [] xref: MESH:C563050 xref: ORDO:98791 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:1099 ! alpha thalassemia [Term] id: DOID:0110030 name: alpha thalassemia-X-linked intellectual disability syndrome alt_id: MIM:301040 def: "An alpha thalassemia that has_material_basis_in mutation in the ATRX gene on Xq21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1415255 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7697714 "DO"] synonym: "alpha-thalassemia-mental retardation syndrome, nondeletion type" EXACT [] synonym: "alpha-thalassemia mental retardation syndrome, non deletion type, X-linked" EXACT [] synonym: "alpha-thalassemia-mental retardation syndrome, nondeletion type, X-linked" EXACT [] synonym: "alpha-thalassemia-mental retardation, X-linked" EXACT [] synonym: "Alpha-thalassemia X-linked mental retardation syndrome" EXACT [] synonym: "ATR non deletion type" EXACT [] synonym: "ATR, nondeletion type" EXACT [] synonym: "ATRX" EXACT [] synonym: "ATRX-RELATED DISORDER" BROAD [] synonym: "ATR-X-RELATED SYNDROME" EXACT [] synonym: "ATR-X syndrome" EXACT [] synonym: "ATRX syndrome" EXACT [] synonym: "X-linked alpha-thalassemia/impaired intellectual development syndrome" EXACT [] synonym: "XLMR-hypotonic face syndrome" EXACT [] xref: GARD:5864 xref: ICD10CM:D56.0 xref: MESH:C538258 xref: NCI:C118631 xref: ORDO:847 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:1099 ! alpha thalassemia is_a: DOID:225 ! syndrome is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0110031 name: hemoglobin H disease def: "An alpha thalassemia that has_material_basis_in contiguous gene deletion of the hemoglobin alpha-1 (HBA1) and alpha-2 (HBA2) genes on one chromosome 16, and a defect, deletional or nondeletional, in either HBA1 or HBA2 on the other. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12393486 "DO"] synonym: "alpha thalassemia, haemoglobin H type" EXACT [] synonym: "alpha thalassemia, hemoglobin H type" EXACT [] synonym: "alpha-thalassemia intermedia" EXACT [] synonym: "haemoglobin H disease" EXACT [] synonym: "haemoglobin H disease, deletional" EXACT [] synonym: "HBH" EXACT [] synonym: "Hb H disease" EXACT [] synonym: "hemoglobin H disease, deletional" EXACT [] synonym: "hemoglobin H disease, nondeletional" EXACT [] xref: MIM:613978 xref: ORDO:93616 is_a: DOID:1099 ! alpha thalassemia created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0110032 name: autosomal dominant Alport syndrome alt_id: MIM:104200 def: "An Alport syndrome that has_material_basis_in heterozygous mutation in the COL4A3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11044206 "DO"] synonym: "Alport syndrome 3A, autosomal dominant" EXACT [] synonym: "Alport syndrome 3, autosomal dominant" RELATED [] synonym: "ATS3" RELATED [] synonym: "ATS3A" EXACT [] synonym: "renal failure, and sensorineural hearing loss" EXACT [] xref: GARD:624 xref: MESH:C536586 xref: ORDO:88918 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10983 ! Alport syndrome [Term] id: DOID:0110033 name: autosomal recessive Alport syndrome alt_id: MIM:203780 alt_id: MIM:620536 def: "An Alport syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the COL4A3 or the COL4A4 gene, both of which map to chromosome 2q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25575550 "DO"] synonym: "Alport syndrome-2" EXACT [] synonym: "Alport syndrome 2, autosomal recessive" EXACT [] synonym: "Alport syndrome 3B, autosomal recessive" EXACT [] synonym: "Alport syndrome type 2" EXACT [] synonym: "ATS2" EXACT [] synonym: "ATS3B" EXACT [] synonym: "COL4A4-RELATED CONDITION" BROAD [] xref: GARD:625 xref: MESH:C536587 xref: MONDO:0008762 xref: ORDO:88919 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10983 ! Alport syndrome [Term] id: DOID:0110034 name: X-linked Alport syndrome alt_id: OMIA:001112 def: "An Alport syndrome that has_material_basis_in mutation in the gene encoding the alpha-5 chain of basement membrane collagen type IV (COL4A5). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2349482 "DO"] synonym: "ALPORT SYNDROME 1, X-LINKED RECESSIVE" EXACT [] synonym: "ATS" EXACT [] synonym: "ATS1" EXACT [] synonym: "COL4A5-RELATED CONDITION" EXACT [] synonym: "nephropathy and deafness, X-linked" EXACT [] synonym: "X-linked Alport syndrome-1" EXACT [] synonym: "X-linked nephritis" EXACT [] xref: MIM:301050 xref: ORDO:88917 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:10983 ! Alport syndrome is_a: DOID:9008681 ! Deafness [Term] id: DOID:0110035 name: Alzheimer's disease 2 alt_id: MIM:104310 def: "An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8346443 "DO"] synonym: "AD2" EXACT [] synonym: "Alzheimer's Disease Type 2" EXACT [] synonym: "Alzheimer Disease 2" EXACT [] synonym: "Alzheimer Disease 2, Late-Onset" EXACT [] synonym: "Alzheimer Disease Associated With Apoe4" EXACT [] synonym: "Alzheimer disease associated with APOE E4" EXACT [] synonym: "Alzheimer Disease Type 2" EXACT [] synonym: "BCHE, K VARIANT" RELATED [] synonym: "CHE*539T" RELATED [] synonym: "late-onset familial Alzheimer disease" EXACT [] xref: MESH:C536595 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110036 name: Alzheimer's disease 16 alt_id: MIM:300756 def: "An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19136949 "DO"] synonym: "AD16" EXACT [] synonym: "Alzheimer's disease 16, late onset" EXACT [] synonym: "Alzheimer Disease 16" EXACT [] xref: MESH:C567463 xref: RDO:0015527 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110037 name: Alzheimer's disease 5 alt_id: MIM:602096 alt_id: RDO:0014894 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9333264 "DO"] synonym: "AD5" EXACT [] synonym: "Alzheimer's disease 5, late onset" EXACT [] synonym: "Alzheimer Disease 5" EXACT [] synonym: "Alzheimer Disease, Familial, 5" EXACT [] xref: MESH:C566578 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110038 name: Alzheimer's disease 6 alt_id: MIM:605526 alt_id: RDO:0013995 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16385451 "DO"] synonym: "AD6" EXACT [] synonym: "Alzheimer Disease 6" EXACT [] synonym: "Alzheimer Disease 6, Late-Onset" NARROW [] xref: MESH:C565325 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110039 name: Alzheimer's disease 7 alt_id: MIM:606187 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11443525 "DO"] synonym: "AD7" EXACT [] synonym: "Alzheimer Disease 7" EXACT [] synonym: "Alzheimer Disease, Familial, 7" EXACT [] xref: MESH:C565251 xref: RDO:0013945 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110040 name: Alzheimer's disease 4 alt_id: MIM:606889 def: "An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12925374 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7638622 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7651536 "DO"] synonym: "AD4" EXACT [] synonym: "Alzheimer's disease 4, early onset" EXACT [] synonym: "Alzheimer's disease type 4" EXACT [] synonym: "Alzheimer disease 4" EXACT [] synonym: "Alzheimer disease, familial, 4" EXACT [] synonym: "Alzheimer disease, familial4" EXACT [] synonym: "Alzheimer disease, familial, type 4" EXACT [] synonym: "Alzheimer disease type 4" EXACT [] xref: MESH:C536596 xref: NCI:C123413 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110041 name: Alzheimer's disease 8 alt_id: MIM:607116 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9008509 "DO"] synonym: "AD8" EXACT [] synonym: "Alzheimer's disease 8, late onset" EXACT [] synonym: "Alzheimer disease 8" EXACT [] synonym: "Alzheimer disease, familial, 8" EXACT [] xref: MESH:C564622 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110042 name: Alzheimer's disease 3 def: "An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1303290 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7596406 "DO"] synonym: "AD3" EXACT [] synonym: "Alzheimer disease 3" EXACT [] synonym: "Alzheimer disease 3, early-onset" EXACT [] synonym: "Alzheimer disease familial 3" EXACT [] synonym: "Alzheimer disease, familial, type 3" EXACT [] synonym: "Alzheimer disease, type 3" EXACT [] synonym: "EARLY ONSET ALZHEIMER DISEASE WITH BEHAVIORAL DISTURBANCE" NARROW [] xref: MESH:C536598 xref: MIM:607822 xref: MONDO:0011913 xref: NCI:C123412 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110043 name: Alzheimer's disease 10 alt_id: MIM:609636 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16175510 "DO"] synonym: "AD10" EXACT [] synonym: "Alzheimer's disease 10, early onset" EXACT [] synonym: "Alzheimer disease 10" EXACT [] synonym: "Alzheimer disease, familial 10" EXACT [] xref: ICD10CM:G30 xref: MESH:C566465 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110044 name: Alzheimer's disease 11 alt_id: MIM:609790 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18761660 "DO"] synonym: "AD11" EXACT [] synonym: "Alzheimer's disease 11, late onset" EXACT [] synonym: "Alzheimer disease 11" EXACT [] synonym: "Alzheimer disease, familial 11" EXACT [] xref: MESH:C565228 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110045 name: Alzheimer's disease 12 alt_id: MIM:611073 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16825432 "DO"] synonym: "AD12" EXACT [] synonym: "Alzheimer disease 12" EXACT [] synonym: "Alzheimer disease familial 12" EXACT [] xref: MESH:C567022 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110046 name: Alzheimer's disease 13 alt_id: MIM:611152 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564960 "DO"] synonym: "AD13" EXACT [] synonym: "Alzheimer's disease 13, late onset" EXACT [] synonym: "Alzheimer disease 13" EXACT [] xref: MESH:C567000 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110047 name: Alzheimer's disease 14 alt_id: MIM:611154 def: "An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564960 "DO"] synonym: "AD14" EXACT [] synonym: "Alzheimer's disease 14, late onset" EXACT [] synonym: "Alzheimer disease 14" EXACT [] xref: MESH:C566999 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110048 name: Alzheimer's disease 15 alt_id: MESH:C536599 alt_id: MIM:604154 def: "An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564960 "DO"] synonym: "AD15" EXACT [] synonym: "Alzheimer's disease 15, late onset" EXACT [] synonym: "Alzheimer's disease without neurofibrillary tangles" EXACT [] synonym: "Alzheimer's disease without Tau pathology" EXACT [] synonym: "Alzheimer disease 15" EXACT [] synonym: "Alzheimer disease without neurofibrillary tangles" EXACT [] xref: GARD:7190 xref: MESH:C566998 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110049 name: Alzheimer's disease 17 def: "An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23150934 "DO"] synonym: "AD17" EXACT [] synonym: "Alzheimer disease 17" EXACT [] synonym: "Alzheimer disease 17, late onset" EXACT [] xref: MIM:615080 xref: MONDO:0014036 xref: NCI:C169104 is_a: DOID:10652 ! Alzheimer's disease created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:0110050 name: Alzheimer's disease 18 def: "An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19608551 "DO"] synonym: "AD18" EXACT [] synonym: "Alzheimer's disease 18, late onset" EXACT [] synonym: "Alzheimer disease 18" EXACT [] synonym: "late-onset Alzheimer disease-18" EXACT [] xref: MIM:615590 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110051 name: Alzheimer's disease 19 def: "An Alzheimer's disease that is characterized by associated variants of the gene PLD3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24336208 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25832408 "DO"] synonym: "AD19" EXACT [] synonym: "Alzheimer Disease 19" EXACT [] synonym: "Alzheimer disease 19 late onset" EXACT [] synonym: "ALZHEIMER DISEASE 19, SUSCEPTIBILITY TO" RELATED [] xref: MIM:615711 xref: RDO:9001334 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0110052 name: amelogenesis imperfecta type 1B def: "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the enamelin gene (ENAM) on chromosome 4q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11487571 "DO"] synonym: "AI1B" EXACT [] synonym: "AIH2" EXACT [] synonym: "amelogenesis imperfecta, dominant" RELATED [] synonym: "amelogenesis imperfecta type IB" EXACT [] synonym: "hereditary localized enamel hypoplasia" EXACT [] synonym: "hypoplastic local amelogenesis imperfecta, autosomal dominant" EXACT [] xref: MESH:C562879 xref: MIM:104500 xref: MONDO:0007092 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110053 name: amelogenesis imperfecta type 4 alt_id: MIM:104510 alt_id: RDO:0014687 def: "An amelogenesis imperfecta which can has_material_basis_in mutation in the DLX3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15666299 "DO"] synonym: "AI4" EXACT [] synonym: "AIHHT" EXACT [] synonym: "Amelogenesis Imperfecta, Hypomaturation-Hypoplastic Type, with Taurodontism" EXACT [] synonym: "amelogenesis imperfecta type IV" EXACT [] xref: MESH:C566293 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110054 name: amelogenesis imperfecta type 1A alt_id: MIM:104530 alt_id: RDO:0004192 def: "An amelogenesis imperfecta that has_material_basis_in heterozygous mutation in the beta-3 laminin gene (LAMB3) on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23632796 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23958762 "DO"] synonym: "AI1A" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, HYPOPLASTIC TYPE IA" EXACT [] synonym: "Amelogenesis Imperfecta Local Hypoplastic Form" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, TYPE IA" EXACT [] synonym: "generalized microdontia" EXACT [] synonym: "Hypoplastic type amelogenesis imperfecta" EXACT [] synonym: "Local, hypoplastic type of amelogenesis imperfecta" EXACT [] xref: MESH:C538240 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110055 name: amelogenesis imperfecta type 3A alt_id: MIM:130900 def: "An amelogenesis imperfecta type 3 that has_material_basis_in heterozygous mutation in the FAM83H gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252228 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18484629 "DO"] synonym: "ADHCAI" EXACT [] synonym: "AI3A" EXACT [] synonym: "amelogenesis imperfecta, hypocalcification type, autosomal dominant" EXACT [] synonym: "amelogenesis imperfecta hypomineralization type" EXACT [] synonym: "amelogenesis imperfecta type IIIA" EXACT [] xref: MESH:C562880 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111721 ! amelogenesis imperfecta type 3 [Term] id: DOID:0110056 name: amelogenesis imperfecta type 1C alt_id: MIM:204650 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the enamelin gene (ENAM). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14684688 "DO"] synonym: "AI1C" EXACT [] synonym: "Amelogenesis Imperfecta, Local Hypoplastic Type, Autosomal Recessive" EXACT [] synonym: "amelogenesis imperfecta, recessive" RELATED [] synonym: "amelogenesis imperfecta type IC" EXACT [] synonym: "hypoplastic amelogenesis imperfecta, with or without openbite malocclusion, autosomal recessive" EXACT [] xref: MESH:C567147 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110057 name: amelogenesis imperfecta type 2A1 alt_id: MESH:C538242 alt_id: MIM:204700 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the kallikrein-4 gene (KLK4) on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15235027 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23355523 "DO"] synonym: "AI2A1" EXACT [] synonym: "amelogenesis imperfecta, hypomaturation type, IIA1" EXACT [] synonym: "amelogenesis imperfecta pigmented hypomaturation type" EXACT [] synonym: "amelogenesis imperfecta pigmented hypomaturation type 1" EXACT [] synonym: "amelogenesis imperfecta type IIA1" EXACT [] xref: GARD:9495 xref: MESH:C567146 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110058 name: amelogenesis imperfecta type 1E alt_id: MIM:301200 def: "An amelogenesis imperfecta that has_material_basis_in X-linked dominant mutation in the gene encoding amelogenin (AMELX). (DO)" [https://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta "DO", https://www.omim.org/entry/301200 "DO"] synonym: "AI1E" EXACT [] synonym: "AIH1" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, WITH SNOW-CAPPED TEETH" EXACT [] synonym: "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" EXACT [] synonym: "Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 1" EXACT [] synonym: "Amelogenesis Imperfecta, Type 1E, with Snow-Capped Teeth" EXACT [] synonym: "amelogenesis imperfecta type IE" EXACT [] synonym: "amelogenesis imperfecta, X-linked 1" EXACT [] synonym: "X-linked enamel hypoplasia" BROAD [] xref: MESH:C538243 xref: MESH:C564463 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110059 name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 def: "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1358807 "DO"] synonym: "AIH3" EXACT [] synonym: "AMELOGENESIS IMPERFECTA 3, HYPOPLASTIC TYPE" EXACT [] synonym: "amelogenesis imperfecta type IE X-linked 2" EXACT [] synonym: "X-linked enamel hypoplasia" BROAD [] xref: MIM:301201 is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110060 name: amelogenesis imperfecta hypomaturation type 2A2 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the matrix metalloproteinase-20 gene (MMP20). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15744043 "DO"] synonym: "AI2A2" EXACT [] synonym: "amelogenesis imperfecta hypomaturation type IIA2" EXACT [] synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 2" EXACT [] synonym: "amelogenesis imperfecta type IIA2" EXACT [] xref: MESH:C567279 xref: MIM:612529 xref: MONDO:0012926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110061 name: amelogenesis imperfecta hypomaturation type 2A3 alt_id: MIM:613211 def: "An amelogenesis imperfecta caused by homozygous mutation in the WDR72 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19853237 "DO"] synonym: "AI2A3" EXACT [] synonym: "amelogenesis imperfecta hypomaturation type IIA3" EXACT [] synonym: "amelogenesis imperfecta type IIA3" EXACT [] xref: MESH:C567706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110062 name: amelogenesis imperfecta hypomaturation type 2A4 alt_id: RDO:9000167 def: "An amelogenesis imperfecta caused by homozygous mutation in the C4ORF26 gene on chromosome 4q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22901946 "DO"] synonym: "AI2A4" EXACT [] synonym: "amelogenesis imperfecta, hypomaturation type IIA4" EXACT [] synonym: "amelogenesis imperfecta type IIA4" EXACT [] xref: MIM:614832 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110063 name: amelogenesis imperfecta hypomaturation type 2A5 def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the SLC24A4 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23375655 "DO"] synonym: "AI2A5" EXACT [] synonym: "amelogenesis imperfecta, hypomaturation type, IIA5" EXACT [] synonym: "amelogenesis imperfecta type IIA5" EXACT [] xref: MIM:615887 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000634 ! Amelogenesis Imperfecta Hypomaturation Type [Term] id: DOID:0110064 name: amelogenesis imperfecta type 1H alt_id: RDO:9001338 def: "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the integrin beta-6 gene (ITGB6) on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24305999 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24319098 "DO"] synonym: "AI1H" EXACT [] synonym: "amelogenesis imperfecta type IH" EXACT [] xref: ICD10CM:K00.5 xref: MIM:616221 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110065 name: amelogenesis imperfecta type 1F def: "An amelogenesis imperfecta that has_material_basis_in homozygous mutation in the ameloblastin gene (AMBN) on chromosome 4q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24858907 "DO"] synonym: "AI1F" EXACT [] synonym: "amelogenesis imperfecta, hypoplastic type 1F" EXACT [] synonym: "amelogenesis imperfecta, hypoplastic type IF" EXACT [] synonym: "amelogenesis imperfecta type IF" EXACT [] xref: MIM:616270 xref: MONDO:0014560 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110066 name: amelogenesis imperfecta type 1G alt_id: MIM:204690 def: "An amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in the FAM20A gene on chromosome 17q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23468644 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24196488 "DO"] synonym: "absent enamel, nephrocalcinosis and apparently normal calcium metabolism" EXACT [] synonym: "AI1G" EXACT [] synonym: "AIGFS" EXACT [] synonym: "AMELOGENESIS IMPERFECTA AND GINGIVAL FIBROMATOSIS SYNDROME" EXACT [] synonym: "AMELOGENESIS IMPERFECTA, HYPOPLASTIC, WITH NEPHROCALCINOSIS" EXACT [] synonym: "amelogenesis imperfecta nephrocalcinosis" EXACT [] synonym: "amelogenesis imperfecta type IG" EXACT [] synonym: "enamel-renal-gingival syndrome" EXACT [] synonym: "enamel renal syndrome" EXACT [] synonym: "ERS" EXACT [] synonym: "generalized enamel hypoplasia and renal dysfunction" EXACT [] synonym: "hypoplastic amelogenesis imperfecta and nephrocalcinosis" EXACT [] xref: MESH:C538241 xref: ORDO:1031 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:0110067 name: juvenile amyotrophic lateral sclerosis with dementia alt_id: MIM:205200 alt_id: RDO:0014456 def: "A juvenile amyotrophic lateral sclerosis that is slowly progressive with concomitantly progressive dementia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5692341 "DO"] synonym: "ALS-Dementia Complex" EXACT [] xref: MESH:C565956 is_a: DOID:1307 ! dementia is_a: DOID:9000276 ! Juvenile Amyotrophic Lateral Sclerosis [Term] id: DOID:0110068 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 3 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the SQSTM1 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22084127 "DO"] synonym: "FTDALS3" EXACT [] xref: MIM:616437 is_a: DOID:630 ! genetic disease is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0110069 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 4 def: "An amyotrophic lateral sclerosis that has_material_basis_in mutation in the TBK1 gene on chromosome 12q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25700176 "DO"] synonym: "FTDALS4" EXACT [] xref: MIM:616439 is_a: DOID:630 ! genetic disease is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0110070 name: arrhythmogenic right ventricular dysplasia 1 alt_id: MIM:107970 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TGFB3 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15639475 "DO"] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 1" EXACT [] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 1" EXACT [] synonym: "ARVC1" EXACT [] synonym: "ARVD1" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 1" EXACT [] synonym: "right ventricular dilated cardiomyopathy" RELATED [] synonym: "UHL ANOMALY" RELATED [] xref: ICD10CM:I42.8 xref: ICD10CM:Q24.8 xref: MESH:C566254 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110072 name: arrhythmogenic right ventricular dysplasia 3 alt_id: MIM:602086 def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 14q12-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8824801 "DO"] synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 3" EXACT [] synonym: "ARVC3" EXACT [] synonym: "ARVD3" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 3" EXACT [] xref: MESH:C566584 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110073 name: arrhythmogenic right ventricular dysplasia 4 alt_id: MIM:602087 def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 2q32.1-q32.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9344647 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 4" EXACT [] synonym: "ARVC4" EXACT [] synonym: "ARVD4" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 4" EXACT [] xref: MESH:C566583 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110074 name: arrhythmogenic right ventricular dysplasia 5 alt_id: MIM:604400 alt_id: RDO:0014323 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18313022 "DO"] synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 5" EXACT [] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 5" EXACT [] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, TYPE 5" EXACT [] synonym: "ARVC5" EXACT [] synonym: "ARVD5" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 5" EXACT [] xref: MESH:C565776 xref: NCI:C173470 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110075 name: arrhythmogenic right ventricular dysplasia 6 alt_id: MIM:604401 def: "An arrhythmogenic right ventricular dysplasia associated with variation in the region 10p14-p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10631146 "DO"] synonym: "Arrhythmogenic Right Ventricular Cardiomyopathy 6" EXACT [] synonym: "ARVC6" EXACT [] synonym: "ARVD6" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 6" EXACT [] xref: MESH:C565775 xref: RDO:0014322 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy [Term] id: DOID:0110076 name: arrhythmogenic right ventricular dysplasia 8 alt_id: MIM:607450 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding desmoplakin (DSP) on chromosome 6p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12373648 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 8" EXACT [] synonym: "arrhythmogenic right ventricular cardiomyopathy, type 8" EXACT [] synonym: "ARVC8" EXACT [] synonym: "ARVD8" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 8" EXACT [] xref: MESH:C564400 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110077 name: arrhythmogenic right ventricular dysplasia 9 alt_id: MIM:609040 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutations in the PKP2 gene on chromosome 12p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15489853 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 9" EXACT [] synonym: "arrhythmogenic right ventricular cardiomyopathy, type 9" EXACT [] synonym: "ARVC9" EXACT [] synonym: "ARVD9" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 9" EXACT [] xref: MESH:C563808 xref: NCI:C173471 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110078 name: Leber congenital amaurosis 1 alt_id: MIM:204000 def: "A Leber congenital amaurosis characterized by severe cone-rod dystrophy with photophobia, high hyperopia, and poor but stable vision with no visual improvement and that has_material_basis_in mutation in the GUCY2D gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8944027 "DO"] synonym: "amaurosis congenita of Leber I" EXACT [] synonym: "amaurosis congenita of Leber, type 1" EXACT [] synonym: "CRB" EXACT [] synonym: "LCA1" EXACT [] synonym: "Leber congenital amaurosis, type 1" EXACT [] xref: MESH:C536600 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110079 name: Leber congenital amaurosis 8 def: "A Leber congenital amaurosis that is characterized by night blindness and thick unlaminated retinas and has_material_basis_in mutation in the CRB1 gene on chromosome 1q31-q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11231775 "DO"] synonym: "LCA8" EXACT [] xref: MIM:613835 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110080 name: Leber congenital amaurosis 12 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the RD3 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17186464 "DO"] synonym: "LCA12" EXACT [] synonym: "Rod-cone dysplasia 2" EXACT [] xref: MESH:C565697 xref: MIM:610612 xref: OMIA:001260 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110081 name: arrhythmogenic right ventricular dysplasia 10 alt_id: MIM:610193 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmoglein-2 gene (DSG2) on chromosome 18q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16505173 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17105751 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 10" EXACT [] synonym: "arrhythmogenic right ventricular cardiomyopathy, type 10" EXACT [] synonym: "ARVC10" EXACT [] synonym: "ARVD10" EXACT [] synonym: "DSG2-RELATED CONDITION" BROAD [] synonym: "familial arrhythmogenic right ventricular dysplasia 10" EXACT [] xref: MESH:C565707 xref: MONDO:0012434 xref: NCI:C177248 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110082 name: arrhythmogenic right ventricular dysplasia 11 alt_id: MIM:610476 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the desmocollin-2 gene (DSC2) on chromosome 18q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17033975 "DO"] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 11" NARROW [] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY, TYPE 11" EXACT [] synonym: "ARVC11" EXACT [] synonym: "ARVD11" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 11" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 11, and mild palmoplantar keratoderma with or without woolly hair" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 11, with mild palmoplantar keratoderma and woolly hair" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 11, with or without mild palmoplantar keratoderma" EXACT [] xref: MESH:C566471 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy [Term] id: DOID:0110083 name: arrhythmogenic right ventricular dysplasia 12 alt_id: MIM:611528 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the gene encoding junction plakoglobin (JUP) on chromosome 17q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17924338/ "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 12" EXACT [] synonym: "ARVC12" EXACT [] synonym: "ARVD12" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 12" EXACT [] xref: MESH:C566925 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110084 name: arrhythmogenic right ventricular dysplasia 13 def: "An arrhythmogenic right ventricular dysplasia that has_material_basis_in heterozygous mutation in the CTNNA3 gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23136403 "DO"] synonym: "arrhythmogenic right ventricular cardiomyopathy 13" EXACT [] synonym: "ARVC13" EXACT [] synonym: "ARVD13" EXACT [] synonym: "familial arrhythmogenic right ventricular dysplasia 13" EXACT [] xref: MIM:615616 xref: NCI:C176008 is_a: DOID:0050431 ! arrhythmogenic right ventricular cardiomyopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110085 name: asphyxiating thoracic dystrophy 1 alt_id: MIM:208500 def: "An asphyxiating thoracic dystrophy associated with variation in the region 15q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20503315 "DO"] synonym: "asphyxiating thoracic chondrodystrophy" EXACT [] synonym: "asphyxiating thoracic dysplasia" EXACT [] synonym: "ATD1" EXACT [] synonym: "chondroectodermal dysplasia-like syndrome" EXACT [] synonym: "infantile thoracic dystrophy" EXACT [] synonym: "short-rib thoracic dysplasia 1 with or without polydactyly" EXACT [] synonym: "SRTD1" EXACT [] synonym: "thoracic asphyxiant dystrophy" EXACT [] xref: MESH:C537571 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12714 ! Ellis-Van Creveld syndrome [Term] id: DOID:0110086 name: asphyxiating thoracic dystrophy 2 alt_id: MIM:611263 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT80 gene on chromosome 3q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17468754 "DO"] synonym: "ATD2" EXACT [] synonym: "short-rib thoracic dysplasia 2 with or without polydactyly" EXACT [] synonym: "SRTD2" EXACT [] xref: MESH:C566982 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12714 ! Ellis-Van Creveld syndrome [Term] id: DOID:0110087 name: asphyxiating thoracic dystrophy 3 alt_id: DOID:0050549 alt_id: MIM:613091 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the DYNC2H1 gene on chromosome 11q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19442771 "DO"] synonym: "ATD3" EXACT [] synonym: "DYNC2H1-related condition" BROAD [] synonym: "DYNC2H1-related disorder" BROAD [] synonym: "polydactyly with neonatal chondrodystrophy, type 1" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type 3" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type I" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type III" EXACT [] synonym: "Saldino-Noonan syndrome" EXACT [] synonym: "short rib polydactyly syndrome, Saldino Noonan type" EXACT [] synonym: "short rib polydactyly syndrome type 1" EXACT [] synonym: "short rib-polydactyly syndrome, type I" EXACT [] synonym: "short rib-polydactyly syndrome, type IIB" EXACT [] synonym: "short rib-polydactyly syndrome, type III" EXACT [] synonym: "short rib-polydactyly syndrome, Verma-Naumoff type" EXACT [] synonym: "short-rib thoracic dysplasia 3 with or without polydactyly" EXACT [] synonym: "SRPS1" EXACT [] synonym: "SRPS2B" EXACT [] synonym: "SRPS3" EXACT [] synonym: "SRPS type 1" EXACT [] synonym: "SRTD3" EXACT [] synonym: "Verma-Naumoff syndrome" EXACT [] xref: GARD:4834 xref: GARD:4835 xref: MESH:C537602 xref: NCI:C163755 xref: ORDO:93270 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110088 name: asphyxiating thoracic dystrophy 4 def: "An asphyxiating thoracic dystrophy has_material_basis_in compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21258341 "DO"] synonym: "ATD4" EXACT [] synonym: "short-rib thoracic dysplasia 4 with or without polydactyly" EXACT [] synonym: "SRTD4" EXACT [] synonym: "TTC21B-related disorder" BROAD [] xref: MIM:613819 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11162 ! respiratory failure [Term] id: DOID:0110089 name: asphyxiating thoracic dystrophy 5 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22019273 "DO"] synonym: "ATD5" EXACT [] synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT [] synonym: "SRTD5" EXACT [] xref: MIM:614376 xref: MONDO:0013717 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11162 ! respiratory failure [Term] id: DOID:0110090 name: short-rib thoracic dysplasia 7 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17935248 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21473986 "DO"] synonym: "short rib-polydactyly syndrome 5" EXACT [] synonym: "short rib-polydactyly syndrome type V" EXACT [] synonym: "SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC" NARROW [] synonym: "short-rib thoracic dysplasia 7 without polydactyly" NARROW [] synonym: "short-rib thoracic dysplasia 7 with polydactyly, digenic" NARROW [] synonym: "SRPS5" EXACT [] synonym: "SRTD7" EXACT [] synonym: "WDR35-related disorder" BROAD [] xref: MIM:614091 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0110091 name: short-rib thoracic dysplasia 10 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24140113 "DO"] synonym: "SHORT-RIB THORACIC DYSPLASIA 10 WITHOUT POLYDACTYLY" NARROW [] synonym: "short-rib thoracic dysplasia 10 with polydactyly" NARROW [] synonym: "SRTD10" EXACT [] xref: MIM:615630 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110092 name: short-rib thoracic dysplasia 6 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the NEK1 gene on chromosome 4q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21211617 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22499340 "DO"] synonym: "Majewski syndrome" EXACT [] synonym: "NEK1-RELATED CONDITION" BROAD [] synonym: "polydactyly with neonatal chondrodystrophy, type 2" EXACT [] synonym: "polydactyly with neonatal chondrodystrophy, type II" EXACT [] synonym: "Short Rib Polydactyly Syndrome, Type II" EXACT [] synonym: "Short Rib-Polydactyly Syndrome, Type IIA" EXACT [] synonym: "SRPS2A" EXACT [] synonym: "SRPS type II" EXACT [] synonym: "SRTD6" EXACT [] xref: MIM:263520 xref: NCI:C122654 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110093 name: short-rib thoracic dysplasia 13 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the CEP120 gene on chromosome 5q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25361962 "DO"] synonym: "SRTD13" EXACT [] xref: MIM:616300 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:0110094 name: short-rib thoracic dysplasia 8 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in compound heterozygous mutation in the WDR60 gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23910462 "DO"] synonym: "short rib polydactyly syndrome 6" EXACT [] synonym: "SHORT RIB-POLYDACTYLY SYNDROME, TYPE VI" EXACT [] synonym: "SRPS6" EXACT [] synonym: "SRTD8" EXACT [] xref: MIM:615503 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110095 name: short-rib thoracic dysplasia 11 with or without polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WDR34 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24183449 "DO"] synonym: "DYNC2I2-RELATED CONDITION" EXACT [] synonym: "SRTD11" EXACT [] xref: ICD10CM:Q77.2 xref: MIM:615633 xref: MONDO:0014287 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110096 name: short-rib thoracic dysplasia 14 with polydactyly def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26166481 "DO"] synonym: "KIAA0586-RELATED CONDITION" BROAD [] synonym: "SRTD14" EXACT [] xref: MIM:616546 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:0110097 name: short-rib thoracic dysplasia 9 with or without polydactyly alt_id: MIM:266920 def: "An asphyxiating thoracic dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22503633 "DO"] synonym: "conorenal dysplasia" EXACT [] synonym: "conorenal syndrome" EXACT [] synonym: "Mainzer-Saldino chondrodysplasia" EXACT [] synonym: "Mainzer-Saldino disease" EXACT [] synonym: "Mainzer-Saldino syndrome" EXACT [] synonym: "MZSDS" EXACT [] synonym: "renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia and skeletal dysplasia" EXACT [] synonym: "short-rib thoracic dysplasia 9" EXACT [] synonym: "short-rib thoracic dysplasia without polydactyly" RELATED [] synonym: "SRTD9" EXACT [] xref: MESH:C535463 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110098 name: atopic dermatitis 2 def: "An atopic dermatitis conferred by variation in the FLG gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16912508 "DO"] synonym: "ATOD2" EXACT [] synonym: "atopic dermatitis, susceptibility to, 2" RELATED [] synonym: "FLG-RELATED CONDITION" BROAD [] synonym: "FLG-RELATED DISORDERS" BROAD [] xref: MESH:C565293 xref: MIM:605803 xref: MONDO:0011596 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110099 name: atopic dermatitis 3 alt_id: MIM:605804 def: "An atopic dermatitis associated with variation in the region 20p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11279517 "DO"] synonym: "ATOD3" EXACT [] synonym: "Dermatitis, Atopic, with Asthma" EXACT [] xref: MESH:C565292 is_a: DOID:2841 ! asthma is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110100 name: atopic dermatitis 4 alt_id: MIM:605805 def: "An atopic dermatitis associated with variation in the region 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11279517 "DO"] synonym: "ATOD4" EXACT [] xref: MESH:C565291 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110101 name: atopic dermatitis 5 alt_id: MIM:605844 def: "An atopic dermatitis associated with variation in the region 13q12-q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11069631 "DO"] synonym: "ATOD5" EXACT [] xref: MESH:C565280 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110102 name: atopic dermatitis 6 alt_id: MIM:605845 def: "An atopic dermatitis associated with variation in the region 5q31-q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11069631 "DO"] synonym: "ATOD6" EXACT [] xref: MESH:C565279 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110103 name: atopic dermatitis 7 alt_id: MIM:613064 def: "An atopic dermatitis associated with variation in the region 11q13.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19349984 "DO"] synonym: "ATOD7" EXACT [] xref: MESH:C567796 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:0110104 name: atopic dermatitis 8 def: "An atopic dermatitis associated with variation in the region 4q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19517137 "DO"] synonym: "ATOD8" EXACT [] xref: MIM:613518 is_a: DOID:3310 ! atopic dermatitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0110105 name: atopic dermatitis 9 def: "An atopic dermatitis associated with variation in the region 3p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19517137 "DO"] synonym: "ATOD9" EXACT [] xref: MIM:613519 is_a: DOID:3310 ! atopic dermatitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0110106 name: atrial heart septal defect 1 alt_id: MIM:108800 alt_id: RDO:0014650 def: "An atrial heart septal defect type 1 associated with variation in the region 5p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9610535 "DO"] synonym: "ASD1" EXACT [] synonym: "ASD I" NARROW [] synonym: "ASD II" NARROW [] synonym: "atrial septal defect 1" EXACT [] synonym: "Atrial Septal Defect, Primum Type" NARROW [] synonym: "Atrial Septal Defect, Secundum Type" NARROW [] xref: MESH:C566239 xref: RDO:0014649 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110107 name: atrial heart septal defect 2 alt_id: MIM:607941 alt_id: RDO:0004221 def: "An atrial heart septal defect type 2 that has_material_basis_in heterozygous mutation in the GATA4 gene on chromosome 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12845333 "DO"] synonym: "ASD2" EXACT [] synonym: "Atrial Septal Defect 2" EXACT [] xref: MESH:C538263 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110108 name: atrial heart septal defect 3 def: "An atrial heart septal defect type 3 that has_material_basis_in heterozygous mutation in the myosin heavy chain-6 gene (MYH6) on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15735645 "DO"] synonym: "ASD3" EXACT [] synonym: "atrial septal defect 3" EXACT [] xref: MESH:C563540 xref: MIM:614089 xref: MONDO:0013567 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:630 ! genetic disease [Term] id: DOID:0110109 name: atrial heart septal defect 4 alt_id: MIM:611363 def: "An atrial heart septal defect type 4 that has_material_basis_in mutation in the TBX20 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17668378 "DO"] synonym: "ASD4" EXACT [] synonym: "atrial septal defect 4" EXACT [] synonym: "TBX20-RELATED CONDITION" EXACT [] xref: MESH:C566963 xref: RDO:0015163 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:630 ! genetic disease [Term] id: DOID:0110110 name: atrial heart septal defect 5 alt_id: MIM:612794 alt_id: RDO:0015609 def: "An atrial heart septal defect type 5 that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17947298 "DO"] synonym: "ASD5" EXACT [] synonym: "atrial septal defect 5" EXACT [] xref: MESH:C567561 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110111 name: atrial heart septal defect 6 alt_id: MIM:613087 alt_id: RDO:0012033 def: "An atrial heart septal defect type 6 that has_material_basis_in heterozygous mutation in the TLL1 gene on chromosome 4q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18830233 "DO"] synonym: "ASD6" EXACT [] synonym: "atrial septal defect 6" EXACT [] synonym: "TLL1-RELATED CONDITION" EXACT [] xref: MESH:C567764 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110112 name: atrial heart septal defect 7 def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9651244 "DO"] synonym: "ASD7" EXACT [] synonym: "ASD with or without atrioventricular conduction defects" EXACT [] synonym: "ATRIAL SEPTAL DEFECT 7 WITH OR WITHOUT ATRIOVENTRICULAR CONDUCTION DEFECTS" EXACT [] synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [] synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [] xref: MIM:108900 xref: ORDO:1479 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050820 ! atrioventricular block is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:9006886 ! Atrial Septal Defect with Atrioventricular Conduction Defects [Term] id: DOID:0110113 name: atrial heart septal defect 8 def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the CITED2 gene on chromosome 6q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16287139 "DO"] synonym: "ASD8" EXACT [] synonym: "atrial septal defect 8" EXACT [] xref: MIM:614433 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110114 name: atrial heart septal defect 9 def: "An atrial heart septal defect that has_material_basis_in heterozygous mutation in the GATA6 gene on chromosome 18q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20631719 "DO"] synonym: "ASD9" EXACT [] synonym: "atrial septal defect 9" EXACT [] xref: MIM:614475 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:0110115 name: autoimmune lymphoproliferative syndrome type 2A alt_id: MIM:603909 alt_id: RDO:0014370 def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in mutation in the CASP10 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16446975 "DO"] synonym: "ALPS2" EXACT [] synonym: "ALPS2A" EXACT [] synonym: "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE II" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type IIA" EXACT [] xref: MESH:C565833 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110116 name: autoimmune lymphoproliferative syndrome type 2B def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the CASP8 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12353035 "DO"] synonym: "ALPS2B" EXACT [] synonym: "ALPS with recurrent viral infections" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type 2B (ALPS2B)" EXACT [] synonym: "autoimmune lymphoproliferative syndrome, type IIB" EXACT [] synonym: "autoimmune lymphoproliferative syndrome with recurrent viral infections" EXACT [] synonym: "caspase 8 deficiencies" EXACT [] synonym: "caspase 8 deficiency" EXACT [] synonym: "caspase 8 deficiency syndrome" EXACT [] synonym: "caspase eight deficiency state" EXACT [] synonym: "CEDS" EXACT [] xref: MIM:607271 xref: ORDO:275517 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110117 name: autoimmune lymphoproliferative syndrome type 4 def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24240292/ "DO"] synonym: "ALPS4" EXACT [] synonym: "ALPS type 4" EXACT [] synonym: "ALPS type IV" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT [] synonym: "RALD" EXACT [] synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [] synonym: "RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER" EXACT [] synonym: "RAS-associated autoimmune leukoproliferative disorder, somatic" EXACT [] xref: ICD10CM:D72.8 xref: MIM:614470 xref: ORDO:268114 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110118 name: Leber congenital amaurosis 16 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the KCNJ13 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21763485 "DO"] synonym: "LCA16" EXACT [] xref: MIM:614186 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110119 name: autoimmune lymphoproliferative syndrome type 3 def: "An autoimmune lymphoproliferative syndrome that has_material_basis_in homozygous mutation in the PRKCD gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23319571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23666743 "DO"] synonym: "ALPS3" EXACT [] synonym: "autoimmune lymphoproliferative syndrome type III" EXACT [] synonym: "common variable immunodeficiency 9" RELATED [] synonym: "CVID9" RELATED [] xref: MIM:615559 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12177 ! common variable immunodeficiency is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:0110120 name: Axenfeld-Rieger syndrome type 1 def: "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8944018 "DO"] synonym: "RGS" EXACT [] synonym: "RIEG" EXACT [] synonym: "RIEG1" EXACT [] synonym: "Rieger syndrome type 1" EXACT [] xref: MIM:180500 is_a: DOID:0060321 ! umbilical hernia is_a: DOID:11722 ! myotonic dystrophy type 1 is_a: DOID:13714 ! anodontia is_a: DOID:14686 ! Axenfeld-Rieger syndrome is_a: DOID:3128 ! anus disease is_a: DOID:9001487 ! Facies is_a: DOID:9008606 ! Corneal Opacity is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0110121 name: Axenfeld-Rieger syndrome type 2 alt_id: MIM:601499 def: "An Axenfeld-Rieger syndrome that has_material_basis_in deletions in the region 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8751862 "DO"] synonym: "RIEG2" EXACT [] synonym: "Rieger syndrome 2" EXACT [] synonym: "Rieger syndrome type 2" EXACT [] xref: ICD10CM:Q13.8 xref: MESH:C535680 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:13714 ! anodontia is_a: DOID:14686 ! Axenfeld-Rieger syndrome is_a: DOID:9002484 ! Maxillary Diseases [Term] id: DOID:0110122 name: Axenfeld-Rieger syndrome type 3 def: "An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9792859 "DO"] synonym: "anterior chamber cleavage syndrome" EXACT [] synonym: "anterior segment mesenchymal dysgenesis" EXACT [] synonym: "Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss" EXACT [] synonym: "RIEG3" EXACT [] synonym: "Rieger syndrome type 3" EXACT [] xref: MIM:602482 is_a: DOID:14686 ! Axenfeld-Rieger syndrome [Term] id: DOID:0110123 name: Bardet-Biedl syndrome 1 alt_id: MIM:209900 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20177705 "DO"] synonym: "BARDET-BIEDL SYNDROME 1/10, DIGENIC" BROAD [] synonym: "BARDET-BIEDL SYNDROME 1, MODIFIER OF" RELATED [] synonym: "Bardet-Biedl syndrome type 1" EXACT [] synonym: "BBS1" EXACT [] synonym: "BBS1-RELATED CONDITION" EXACT [] xref: EFO:0009021 xref: GARD:820 xref: MESH:C537909 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110124 name: Bardet-Biedl syndrome 2 alt_id: MIM:615981 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the BBS2 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16823392 "DO"] synonym: "BARDET-BIEDL SYNDROME TYPE 2" EXACT [] synonym: "BBS2" EXACT [] synonym: "BBS2-RELATED CONDITION" BROAD [] synonym: "BBS2-RELATED DISORDER" BROAD [] synonym: "BBS2-RELATED DISORDERS" BROAD [] xref: GARD:821 xref: MESH:C537910 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110125 name: Bardet-Biedl syndrome 3 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the ARL6 gene on chromosome 3q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15314642 "DO"] synonym: "BBS3" EXACT [] xref: GARD:822 xref: ICD10CM:Q87.89 xref: MESH:C537911 xref: MIM:600151 xref: MONDO:0010832 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110126 name: Bardet-Biedl syndrome 4 alt_id: MIM:615982 alt_id: OMIA:002045 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS4 gene on chromosome 15q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11381270 "DO"] synonym: "BBS4" EXACT [] synonym: "BBS4-RELATED CONDITION" EXACT [] xref: EFO:0009024 xref: GARD:823 xref: MESH:C537912 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110127 name: Bardet-Biedl syndrome 5 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS5 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15137946 "DO"] synonym: "BBS5" EXACT [] synonym: "BBS5-RELATED CONDITION" EXACT [] xref: EFO:0009025 xref: GARD:10204 xref: MIM:615983 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110128 name: Bardet-Biedl syndrome 6 alt_id: MIM:605231 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKKS gene on chromosome 20p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10973238 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10973251 "DO"] synonym: "BBS6" EXACT [] synonym: "MKKS-RELATED CONDITION" BROAD [] xref: GARD:10205 xref: MESH:C565738 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110129 name: Bardet-Biedl syndrome 7 alt_id: MIM:615984 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBS7 gene on chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12567324 "DO"] synonym: "BBS7" EXACT [] synonym: "BBS7-RELATED CONDITION" EXACT [] xref: EFO:0009026 xref: GARD:10206 xref: MESH:C565916 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110130 name: Bardet-Biedl syndrome 8 alt_id: MIM:615985 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the TTC8 gene on chromosome 14q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14520415 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16308660 "DO"] synonym: "BBS8" EXACT [] synonym: "TTC8-RELATED CONDITION" BROAD [] xref: GARD:10207 xref: MESH:C565917 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110131 name: Bardet-Biedl syndrome 9 alt_id: MIM:615986 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygosity or compound heterozygosity for mutations in the PTHB1 gene on chromosome 7p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16380913 "DO"] synonym: "BBS9" EXACT [] synonym: "BBS9-RELATED CONDITION" EXACT [] synonym: "RETINAL VASCULAR DYSTROPHY" NARROW [] xref: EFO:0009027 xref: GARD:10208 xref: MESH:C565918 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110132 name: Bardet-Biedl syndrome 10 alt_id: MIM:615987 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS10 gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16582908 "DO"] synonym: "BARDET-BIEDL SYNDROME 1/10, DIGENIC" BROAD [] synonym: "BARDET-BIEDL SYNDROME TYPE 10" EXACT [] synonym: "BBS10" EXACT [] synonym: "BBS10-RELATED CONDITION" EXACT [] xref: EFO:0009022 xref: GARD:10209 xref: MESH:C565919 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110133 name: Bardet-Biedl syndrome 11 alt_id: MIM:615988 def: "A Bardet-Biedl syndrome that has_material_basis_in mutation in the TRIM32 gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16606853 "DO"] synonym: "BBS11" EXACT [] synonym: "TRIM32-RELATED CONDITION" BROAD [] xref: GARD:10210 xref: MESH:C565920 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110134 name: Bardet-Biedl syndrome 12 alt_id: MIM:615989 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the BBS12 gene on chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160889 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19797195 "DO"] synonym: "BARDET-BIEDL SYNDROME TYPE 12" EXACT [] synonym: "BBS12" EXACT [] synonym: "BBS12-RELATED CONDITION" EXACT [] xref: EFO:0009023 xref: GARD:10211 xref: MESH:C565921 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110135 name: Bardet-Biedl syndrome 13 alt_id: MIM:615990 def: "A Bardet-Biedl syndrome that has_material_basis_in compound heterozygous mutation in the MKS1 gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18327255 "DO"] synonym: "BBS13" EXACT [] xref: MESH:C567140 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110136 name: Bardet-Biedl syndrome 14 alt_id: MIM:615991 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the CEP290 gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18327255 "DO"] synonym: "BARDET-BIEDL SYNDROME 14, MODIFIER OF" RELATED [] synonym: "BBS14" EXACT [] xref: MESH:C567141 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110137 name: Bardet-Biedl syndrome 15 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the WDPCP gene on chromosome 2p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20671153 "DO"] synonym: "BBS15" EXACT [] synonym: "WDPCP-RELATED CONDITION" BROAD [] xref: MIM:615992 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110138 name: Bardet-Biedl syndrome 16 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutations in the SDCCAG8 gene on chromosome 1q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20835237 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22626039 "DO"] synonym: "Bardet-Biedel syndrome 16" RELATED [] synonym: "BBS16" EXACT [] synonym: "SDCCAG8-RELATED CONDITION" BROAD [] xref: MIM:615993 xref: MONDO:0014444 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110139 name: Bardet-Biedl syndrome 17 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the LZTFL1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22510444 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23692385 "DO"] synonym: "BBS17" EXACT [] synonym: "LZTFL1-RELATED CONDITION" EXACT [] xref: MIM:615994 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110140 name: Bardet-Biedl syndrome 18 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the BBIP1 gene on chromosome 10q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24026985 "DO"] synonym: "BBIP1-RELATED CONDITION" NARROW [] synonym: "BBS18" EXACT [] xref: MIM:615995 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110141 name: Bardet-Biedl syndrome 19 def: "A Bardet-Biedl syndrome that has_material_basis_in homozygous mutation in the IFT27 gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24488770 "DO"] synonym: "BBS19" EXACT [] synonym: "IFT27-RELATED CONDITION" EXACT [] xref: MIM:615996 is_a: DOID:1935 ! Bardet-Biedl syndrome [Term] id: DOID:0110142 name: Bartter disease type 1 alt_id: MIM:601678 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9355073 "DO"] synonym: "BARTS1" EXACT [] synonym: "Bartter syndrome type 1" EXACT [] synonym: "Bartter syndrome type 1 antenatal" EXACT [] synonym: "Hyperprostaglandin E syndrome 1" EXACT [] synonym: "HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 1, ANTENATAL" EXACT [] synonym: "Hypokalemic alkalosis with hypercalciuria, antenatal" EXACT [] synonym: "SLC12A1-RELATED CONDITION" EXACT [] xref: MESH:C537652 xref: NCI:C178412 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110143 name: Bartter disease type 2 alt_id: MIM:241200 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the potassium channel ROMK gene (KCNJ1) on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326936 "DO"] synonym: "BARTS2" EXACT [] synonym: "Bartter syndrome type 2" EXACT [] synonym: "Bartter syndrome type 2 antenatal" EXACT [] synonym: "Hyperprostaglandin E syndrome 2" EXACT [] synonym: "HYPOKALEMIC ALKALOSIS WITH HYPERCALCIURIA 2, ANTENATAL" EXACT [] xref: ICD10CM:E26.8 xref: MESH:C537651 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110144 name: Bartter disease type 3 alt_id: MIM:607364 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the kidney chloride channel B gene (CLCNKB) on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326936 "DO"] synonym: "BARTS3" EXACT [] synonym: "Bartter syndrome, classic" EXACT [] synonym: "Bartter Syndrome, Type 3" EXACT [] xref: GARD:9659 xref: MESH:C537653 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110145 name: Bartter disease type 4A alt_id: MIM:602522 def: "A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the BSND gene on chromosome 1p32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11687798 "DO"] synonym: "BARTS4A" EXACT [] synonym: "BARTTER SYNDROME, NEONATAL, WITH SENSORINEURAL DEAFNESS" NARROW [] synonym: "Bartter syndrome type 4A" EXACT [] synonym: "BARTTER SYNDROME, TYPE 4A, NEONATAL, WITH SENSORINEURAL DEAFNESS" EXACT [] synonym: "BSND" EXACT [] synonym: "BSND SENSORINEURAL DEAFNESS WITH MILD RENAL DYSFUNCTION" NARROW [] xref: MESH:C566530 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110146 name: Bartter disease type 4b alt_id: MIM:613090 def: "A Bartter disease that has_material_basis_in simultaneous mutation in both the CLCNKA and CLCNKB genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15044642 "DO"] synonym: "BARTS4B" EXACT [] synonym: "Bartter Syndrome, Infantile, with Sensorineural Deafness" EXACT [] synonym: "Bartter Syndrome, Type 4B" EXACT [] synonym: "Bartter syndrome, type 4b, digenic" EXACT [] synonym: "BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS" EXACT [] xref: MESH:C567762 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110147 name: Bartter disease type 5 def: "A Bartter disease that has_material_basis_in mutation in the MAGED2 gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27120771 "DO"] synonym: "BARTS5" EXACT [] synonym: "Bartter syndrome, type 5, antenatal, transient" EXACT [] synonym: "transient antenatal Bartter syndrome-5" EXACT [] xref: MIM:300971 is_a: DOID:445 ! Bartter disease [Term] id: DOID:0110148 name: Charcot-Marie-Tooth disease type 1A def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1677316 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21326314 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1A" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 1A, with focally folded myelin sheaths" EXACT [] synonym: "Charcot Marie Tooth disease, type IA" EXACT [] synonym: "Charcot Marie Tooth neuropathy, type 1A" EXACT [] synonym: "CMT1A" EXACT [] synonym: "hereditary motor and sensory neuropathy 1A" EXACT [] synonym: "hereditary motor and sensory neuropathy IA" EXACT [] synonym: "HMSN 1A" EXACT [] synonym: "HMSN1A" EXACT [] synonym: "HMSN IA" EXACT [] synonym: "microduplication 17p12" EXACT [] xref: GARD:1245 xref: MIM:118220 xref: MONDO:0007309 xref: NCI:C75468 xref: ORDO:101081 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0110149 name: Charcot-Marie-Tooth disease type 1F alt_id: MIM:607734 alt_id: RDO:0003916 def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the NEFL gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12566280 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 1F" EXACT [] synonym: "CMT 1F" EXACT [] synonym: "CMT1f" EXACT [] xref: MESH:C537987 xref: ORDO:101085 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110150 name: Charcot-Marie-Tooth disease type 1D def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9537424 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, Type 1D" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 1D" EXACT [] synonym: "CMT1D" EXACT [] synonym: "hereditary motor and sensory neuropathy 1D" EXACT [] synonym: "HMSN 1D" EXACT [] synonym: "HMSN1D" EXACT [] synonym: "HMSN ID" EXACT [] synonym: "HMSNID" EXACT [] xref: MESH:C537985 xref: MIM:607678 xref: MONDO:0011890 xref: ORDO:101084 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110151 name: Charcot-Marie-Tooth disease type 1C alt_id: MIM:601098 def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12525712 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, TYPE IC" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 1C" EXACT [] synonym: "CMT1C" EXACT [] synonym: "CMT, slow nerve conduction type C" EXACT [] synonym: "hereditary motor and sensory neuropathy type 1C" EXACT [] synonym: "hereditary motor and sensory neuropathy type IC" EXACT [] synonym: "HMSN1C" EXACT [] synonym: "HMSN IC" EXACT [] synonym: "HMSNIC" EXACT [] xref: MESH:C537984 xref: ORDO:101083 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110152 name: Charcot-Marie-Tooth disease type 1B def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in heterozygous mutation in the gene encoding myelin protein zero (MPZ). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7693129 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B" EXACT [] synonym: "Charcot-Marie-Tooth disease, slow nerve conduction type, linked to Duffy" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 1B, with focally folded myelin sheaths" EXACT [] synonym: "Charcot-Marie-Tooth disease, type IB" EXACT [] synonym: "Charcot Marie Tooth neuropathy, type 1B" EXACT [] synonym: "CMT1B" EXACT [] synonym: "hereditary motor and sensory neuropathy IB" EXACT [] synonym: "HMSN 1B" EXACT [] synonym: "HMSN1B" EXACT [] synonym: "HMSN IB" EXACT [] xref: MIM:118200 xref: NCI:C118782 xref: ORDO:101082 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0110153 name: Charcot-Marie-Tooth disease type 1E alt_id: MESH:C538078 alt_id: MESH:C566136 alt_id: MIM:118300 alt_id: MIM:214370 def: "A Charcot-Marie-Tooth disease type 1 that has_material_basis_in autosomal dominant mutation in the peripheral myelin protein-22 gene (PMP22). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10330345 "DO"] synonym: "Charcot-Marie-Tooth disease and deafness" EXACT [] synonym: "Charcot-Marie-Tooth disease-deafness" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating type 1E" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy and deafness, autosomal dominant" EXACT [] synonym: "CMT1E" EXACT [] synonym: "deafness with Charcot-Marie-Tooth disease" EXACT [] synonym: "hereditary motor and sensory neuropathy with deafness, mental retardation, and absent sensory large myelinated fibers" EXACT [] xref: GARD:9190 xref: MESH:C537986 xref: ORDO:90658 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0110154 name: Charcot-Marie-Tooth disease type 2A1 alt_id: MIM:118210 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the KIF1B gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11389829 "DO"] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2A1" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2A1" EXACT [] synonym: "CMT2A1" EXACT [] synonym: "hereditary motor and sensory neuropathy IIA1" EXACT [] synonym: "HMSN2A1" EXACT [] synonym: "HMSN IIA1" EXACT [] xref: MESH:C566138 xref: ORDO:99946 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008563 ! Charcot-Marie-Tooth Disease, Type 2A [Term] id: DOID:0110155 name: Charcot-Marie-Tooth disease type 2A2A def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15064763 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19889647 "DO"] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT [] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease, type 2A2A" EXACT [] synonym: "CMT2A2A" EXACT [] xref: MIM:609260 xref: NCI:C150646 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004551 ! Charcot-Marie-Tooth Disease Type 2A2 [Term] id: DOID:0110156 name: Charcot-Marie-Tooth disease type 2B1 alt_id: MIM:605588 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11799477 "DO"] synonym: "autosomal recessive axonal CMT4C1" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, B1" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B1" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2B1" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2B1" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 2b1" EXACT [] synonym: "CMT2B1" EXACT [] xref: ICD10CM:G60.0 xref: MESH:C537990 xref: ORDO:98856 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006138 ! Laminopathies [Term] id: DOID:0110157 name: Charcot-Marie-Tooth disease type 2J alt_id: MIM:607736 def: "A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10071056 "DO"] synonym: "axonal Charcot-Marie-Tooth disease type 2J" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2J" EXACT [] synonym: "CMT 2J" EXACT [] synonym: "CMT2J" EXACT [] xref: MESH:C535417 xref: ORDO:99943 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0110158 name: Charcot-Marie-Tooth disease type 2I alt_id: MIM:607677 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10071056 "DO"] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2I" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, type 2I" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2I" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2I" EXACT [] synonym: "CMT 2I" EXACT [] synonym: "CMT2I" EXACT [] xref: MESH:C535416 xref: ORDO:99942 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110159 name: Charcot-Marie-Tooth disease type 2B def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12545426 "DO"] synonym: "Charcot-Marie-Tooth Disease, Autosomal Dominant, Type 2B" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2B" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2B" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 2B" EXACT [] synonym: "CMT 2B" EXACT [] synonym: "CMT2B" EXACT [] synonym: "Hereditary motor and sensory neuropathy 2 B (HMSN 2 B)" EXACT [] synonym: "hereditary motor and sensory nueropathy 2B" EXACT [] synonym: "hereditary motor and sensory nueropathy IIB" EXACT [] synonym: "HEREDITARY SODIUM CHANNELOPATHY-RELATED SMALL FIBERS NEUROPATHY" BROAD [] synonym: "HMSN2B" EXACT [] synonym: "HMSN IIB" EXACT [] synonym: "Peripheral sensory neuropathy, autosomal dominant (PSN)" EXACT [] xref: GARD:9192 xref: MESH:C537989 xref: MIM:600882 xref: MONDO:0010949 xref: ORDO:99936 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110160 name: Charcot-Marie-Tooth disease axonal type 2T alt_id: RDO:9000420 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the MME gene on chromosome 3q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26991897 "DO"] synonym: "AR-CMT2T" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2T" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE TYPE 2T" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2T" EXACT [] synonym: "CMT2T" EXACT [] synonym: "MME-RELATED AUTOSOMAL DOMINANT CHARCOT MARIE TOOTH DISEASE TYPE 2" EXACT [] synonym: "MME-RELATED CONDITION" BROAD [] xref: EFO:0009162 xref: MIM:617017 xref: ORDO:443950 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110161 name: Charcot-Marie-Tooth disease type 2R def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the TRIM2 gene on chromosome 4q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23562820 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25893792 "DO"] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2R" EXACT [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2R" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2R" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2R" EXACT [] synonym: "CMT2R" EXACT [] xref: MIM:615490 xref: ORDO:397968 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110162 name: Charcot-Marie-Tooth disease, axonal type 2W alt_id: RDO:9001390 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the HARS gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22930593 "DO"] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2W" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2W" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2W" EXACT [] synonym: "CMT2W" EXACT [] xref: MIM:616625 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110163 name: Charcot-Marie-Tooth disease axonal type 2F alt_id: MIM:606595 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15122254 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2F" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2F" EXACT [] synonym: "Charcot-Marie-Tooth neuronal type 2F" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2F" EXACT [] synonym: "CMT 2F" EXACT [] synonym: "CMT2F" EXACT [] synonym: "HSPB1-related disorder" BROAD [] xref: MESH:C535413 xref: ORDO:99940 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110164 name: Charcot-Marie-Tooth disease type 2D def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12690580 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2D" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2D" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2D" EXACT [] synonym: "CMT2D" EXACT [] xref: MESH:C537993 xref: MIM:601472 xref: MONDO:0011091 xref: NCI:C122659 xref: ORDO:99938 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110165 name: Charcot-Marie-Tooth disease type 2E alt_id: MIM:607684 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10841809 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17620486 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2E" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2E" EXACT [] synonym: "CMT 2E" EXACT [] synonym: "CMT2E" EXACT [] xref: MESH:C537994 xref: NCI:C134953 xref: ORDO:99939 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110166 name: Charcot-Marie-Tooth disease axonal type 2H alt_id: MIM:607731 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in variation in the region 8q13-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11166163 "DO"] synonym: "AR-CMT2C" EXACT [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease with pyramidal features" EXACT [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth neuropathy with pyramidal features" EXACT [] synonym: "autosomal recessive axonal CMT4C2" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease with pyramidal involvement" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2H" EXACT [] synonym: "CMT2H" EXACT [] xref: MESH:C535415 xref: ORDO:101102 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110167 name: Charcot-Marie-Tooth disease axonal type 2K def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP1 gene on chromosome 8q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12707075 "DO"] synonym: "ARCMT2K" EXACT [] synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease disease type 2K" EXACT [] synonym: "autosomal recessive axonal CMT4C4" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease with hoarseness" EXACT [] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2K" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, Type 2K" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2K" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Axonal, Type 2k" EXACT [] synonym: "CMT 2K" EXACT [] synonym: "CMT2K" EXACT [] xref: MESH:C535418 xref: MESH:C564325 xref: MIM:607831 xref: MONDO:0011916 xref: NCI:C133886 xref: ORDO:101097 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110168 name: Charcot-Marie-Tooth disease type 2Y def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the VCP gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25125609 "DO"] synonym: "autosomal dominant axonal Charcot-Marie-Tooth type 2Y" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2Y" EXACT [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2Y" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Y" EXACT [] synonym: "CMT2 due to VCP mutation" EXACT [] synonym: "CMT2Y" EXACT [] xref: MIM:616687 xref: NCI:C168974 xref: ORDO:435387 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110169 name: Charcot-Marie-Tooth disease axonal type 2P alt_id: RDO:0000515 alt_id: RDO:9000224 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20865121 "DO"] synonym: "Charcot-Marie-Tooth disease, type 2G" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 2P" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2G" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2P" EXACT [] synonym: "CMT 2G" EXACT [] synonym: "CMT2G" EXACT [] synonym: "CMT2P" EXACT [] xref: GARD:12435 xref: MIM:614436 xref: ORDO:300319 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110170 name: Charcot-Marie-Tooth disease axonal type 2Q def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in a heterozygous loss-of-function mutation in the DHTKD1 gene on chromosome 10p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23141294 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2Q" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" EXACT [] synonym: "CMT2Q" EXACT [] synonym: "DHTKD1-RELATED CONDITION" BROAD [] xref: MIM:615025 xref: ORDO:329258 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110171 name: Charcot-Marie-Tooth disease axonal type 2S alt_id: RDO:9001125 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25439726 "DO"] synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2S" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2S" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2S" EXACT [] synonym: "CMT2S" EXACT [] xref: MIM:616155 xref: ORDO:443073 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110173 name: Charcot-Marie-Tooth disease axonal type 2U def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23729695 "DO"] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2U" EXACT [] synonym: "CMT2U" EXACT [] xref: MIM:616280 xref: ORDO:397735 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110174 name: Charcot-Marie-Tooth disease axonal type 2L def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15565283 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2L" EXACT [] synonym: "axonal Charcot-Marie-Tooth neuropathy, type 2L" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 2L" EXACT [] synonym: "CMT2L" EXACT [] xref: MIM:608673 xref: MONDO:0012096 xref: ORDO:99945 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110175 name: Charcot-Marie-Tooth disease axonal type 2O alt_id: RDO:9000222 alt_id: RDO:9002957 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21820100 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2O" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2O" EXACT [] synonym: "CMT2O" EXACT [] xref: MIM:614228 xref: ORDO:284232 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110176 name: Charcot-Marie-Tooth disease axonal type 2X alt_id: RDO:9000409 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the SPG11 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26556829 "DO"] synonym: "Autosomal recessive Charcot Marie Tooth disease type 2X" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2X" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2X" EXACT [] synonym: "CMT2X" EXACT [] xref: EFO:1001983 xref: MIM:616668 xref: ORDO:466775 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110177 name: Charcot-Marie-Tooth disease axonal type 2N alt_id: MIM:613287 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the AARS gene on chromosome 16q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20045102 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, autosomal dominant, type 2N" EXACT [] synonym: "axonal Charcot-Marie-Tooth neuropathy, type 2N" EXACT [] synonym: "CMT2N" EXACT [] xref: MESH:C567653 xref: ORDO:228174 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110178 name: Charcot-Marie-Tooth disease axonal type 2V alt_id: RDO:9001389 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NAGLU gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25818867 "DO"] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2V" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2V" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2V" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2" BROAD [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2V" EXACT [] synonym: "CMT2V" EXACT [] xref: MIM:616491 xref: ORDO:447964 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110179 name: Charcot-Marie-Tooth disease type 2B2 alt_id: MIM:605589 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the MED25 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19290556 "DO"] synonym: "ARCMT2B" EXACT [] synonym: "AR-CMT2B2" EXACT [] synonym: "Autosomal recessive axonal CMT4C3" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2B2" EXACT [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type B2" EXACT [] synonym: "Charcot-Marie-Tooth disease, axonal, Type 2B2" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2B2" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2B2" EXACT [] synonym: "CMT 2B2" EXACT [] synonym: "CMT2B2" EXACT [] xref: MESH:C537991 xref: ORDO:101101 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110180 name: Charcot-Marie-Tooth disease axonal type 2CC alt_id: RDO:9000361 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the NEFH gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27040688 "DO"] synonym: "Charcot-Marie-Tooth neuropathy, type 2CC" EXACT [] synonym: "CMT2CC" EXACT [] synonym: "NEFH-RELATED CONDITION" BROAD [] xref: MIM:616924 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110181 name: Charcot-Marie-Tooth disease axonal type 2Z def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MORC2 gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26497905 "DO"] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2Z" EXACT [] synonym: "CMT2Z" EXACT [] synonym: "MORC2-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] xref: MIM:616688 xref: ORDO:466768 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110182 name: Charcot-Marie-Tooth disease axonal type 2C alt_id: MIM:606071 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20037588 "DO"] synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT [] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease, type 2C" EXACT [] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2C" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 2C" EXACT [] synonym: "CMT2C" EXACT [] synonym: "Hereditary motor and sensory neuropathy 2 C" EXACT [] synonym: "Hereditary Motor and Sensory Neuropathy, Type IIC" EXACT [] synonym: "HMSN2C" EXACT [] synonym: "HMSN IIC" EXACT [] xref: MESH:C537992 xref: MESH:C565261 xref: ORDO:99937 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110183 name: Charcot-Marie-Tooth disease type 4C def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SH3TC2 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14574644 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4C" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, type 4C" EXACT [] synonym: "CMT 4C" EXACT [] synonym: "CMT4C" EXACT [] synonym: "SH3TC2-RELATED DISORDER" BROAD [] xref: MESH:C535423 xref: MIM:601596 xref: MONDO:0011113 xref: NCI:C129864 xref: ORDO:99949 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110184 name: Charcot-Marie-Tooth disease type 4J def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17572665 "DO"] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4J" EXACT [] synonym: "CMT4J" EXACT [] xref: MESH:C566984 xref: MIM:611228 xref: MONDO:0012640 xref: NCI:C134954 xref: ORDO:139515 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110185 name: Charcot-Marie-Tooth disease type 4A def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding ganglioside-induced differentiation-associated protein-1 (GDAP1) on chromosome 8q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11743579 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4A" EXACT [] synonym: "CMT4A" EXACT [] xref: MESH:C535419 xref: MIM:214400 xref: MONDO:0008961 xref: ORDO:99948 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110186 name: Charcot-Marie-Tooth disease type 4D def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the N-myc downstream-regulated gene-1 (NDRG1) on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10831399 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4D" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 4D" EXACT [] synonym: "CMT4D" EXACT [] synonym: "hereditary motor and sensory neuropathy, LOM type" EXACT [] synonym: "HMSN4D" EXACT [] synonym: "HMSNL" EXACT [] synonym: "HMSN-LOM" EXACT [] synonym: "HMSN LOM type" EXACT [] synonym: "polyneuropathy, NDRG1-related" RELATED [] xref: MESH:C535716 xref: MIM:601455 xref: MONDO:0011085 xref: OMIA:002120 xref: ORDO:99950 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10582 ! Refsum disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110187 name: Charcot-Marie-Tooth disease type 4K def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SURF1 gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24027061 "DO"] synonym: "CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4K" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, DEMYELINATING, AUTOSOMAL RECESSIVE, TYPE 4K" EXACT [] synonym: "CMT4K" EXACT [] synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT [] synonym: "SURF1-related CMT4" EXACT [] synonym: "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" EXACT [] xref: MIM:616684 xref: MONDO:0014733 xref: ORDO:391351 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110188 name: Leber congenital amaurosis 14 alt_id: MIM:613341 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the LRAT gene on chromosome 4q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17011878 "DO"] synonym: "early-onset severe retinal dystrophy, LRAT-related" NARROW [] synonym: "juvenile retinitis pigmentosa, LRAT-related" NARROW [] synonym: "LCA14" EXACT [] synonym: "LRAT-RELATED CONDITION" EXACT [] xref: MESH:C567636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110189 name: Leber congenital amaurosis 15 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15024725 "DO"] synonym: "juvenile retinitis pigmentosa, TULP1-related" NARROW [] synonym: "LCA15" EXACT [] xref: MIM:613843 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110190 name: Charcot-Marie-Tooth disease type 4B2 def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the SBF2 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12554688 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4B2" EXACT [] synonym: "Charcot-Marie-Tooth Disease Type 4B2, with Early-Onset Glaucoma" EXACT [] synonym: "Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 4B2" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA" EXACT [] synonym: "CMT4B2" EXACT [] xref: GARD:9200 xref: MESH:C535421 xref: MESH:C535422 xref: MESH:C565761 xref: MIM:604563 xref: MONDO:0011475 xref: ORDO:99956 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007741 ! Early-Onset Glaucoma [Term] id: DOID:0110191 name: Charcot-Marie-Tooth disease type 4B1 def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutation in the gene encoding the myotubularin-related protein-2 (MTMR2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10802647 "DO"] synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4B1" EXACT [] synonym: "Charcot-Marie-Tooth disease, type 4B" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 4B1" EXACT [] synonym: "CMT4B" EXACT [] synonym: "CMT4B1" EXACT [] xref: MESH:C535420 xref: MIM:601382 xref: MONDO:0011066 xref: ORDO:99955 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110192 name: Charcot-Marie-Tooth disease type 4H def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in mutations in the gene encoding frabin (FGD4). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15744041 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17564959 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4H" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4H" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 4H" EXACT [] synonym: "CMT4H" EXACT [] xref: MESH:C563740 xref: MIM:609311 xref: MONDO:0012250 xref: ORDO:99954 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110193 name: Charcot-Marie-Tooth disease type 4F def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the periaxin gene (PRX) on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11157804 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F" EXACT [] synonym: "CMT4F" EXACT [] synonym: "PRX-RELATED CONDITION" BROAD [] xref: MIM:614895 xref: MONDO:0013959 xref: ORDO:99952 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110194 name: Charcot-Marie-Tooth disease type 4B3 def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or compound heterozygous mutation in the SBF1 gene on chromosome 22q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23749797 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4B3" EXACT [] synonym: "CMT4B3" EXACT [] synonym: "SBF1-RELATED CONDITION" EXACT [] xref: MIM:615284 xref: MONDO:0014117 xref: NCI:C190871 xref: ORDO:363981 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110195 name: Charcot-Marie-Tooth disease type 4E def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous or heterozygous mutation in the EGR2 gene on chromosome 10q21 or by heterozygous mutation in the MPZ gene on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15184631 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9537424 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4E" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Type 4e" EXACT [] synonym: "CHN" EXACT [] synonym: "CMT4E" EXACT [] synonym: "congenital hypomyelinating neuropathy" BROAD [] synonym: "congenital hypomyelinating neuropathy (CHN)" BROAD [] synonym: "congenital hypomyelinating neuropathy 1" EXACT [] synonym: "congenital hypomyelinating neuropathy, autosomal dominant" NARROW [] synonym: "Hypomyelination, severe congenital" EXACT [] synonym: "NEUROPATHY, CONGENITAL HYPOMYELINATING OR AMYELINATING, AUTOSOMAL RECESSIVE" EXACT [] xref: MESH:C535301 xref: MIM:605253 xref: MONDO:0011527 xref: ORDO:99951 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001527 ! Congenital Hypomyelinating Neuropathy [Term] id: DOID:0110196 name: Charcot-Marie-Tooth disease type 4G def: "A Charcot-Marie-Tooth disease type 4 that has_material_basis_in homozygous mutation in the HK1 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19536174 "DO"] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4G" EXACT [] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4G" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 4G" EXACT [] synonym: "CMT4G" EXACT [] synonym: "hereditary motor and sensory neuropathy Russe type" EXACT [] synonym: "HMSNR" EXACT [] xref: MESH:C535813 xref: MIM:605285 xref: MONDO:0011534 xref: ORDO:99953 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110197 name: Charcot-Marie-Tooth disease dominant intermediate B alt_id: MIM:606482 def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15731758 "DO"] synonym: "CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2M" NARROW [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2m" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA" NARROW [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, TYPE 2M" NARROW [] synonym: "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, DOMINANT INTERMEDIATE B, WITH NEUTROPENIA" NARROW [] synonym: "CMT2M" NARROW [] synonym: "CMTDI1" EXACT [] synonym: "CMTDI1 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2M" NARROW [] synonym: "CMTDIB" EXACT [] synonym: "DI-CMTB" EXACT [] synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" EXACT [] xref: MESH:C564703 xref: ORDO:100044 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110198 name: Charcot-Marie-Tooth disease recessive intermediate C def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous or compound heterozygous mutation in the PLEKHG5 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23777631 "DO"] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, RECESSIVE INTERMEDIATE C" EXACT [] synonym: "CMTRIC" EXACT [] synonym: "PLEKHG5-RELATED CONDITION" BROAD [] synonym: "RI-CMTC" EXACT [] synonym: "RI-CMT type C" EXACT [] xref: MIM:615376 xref: ORDO:369867 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110199 name: Charcot-Marie-Tooth disease dominant intermediate C alt_id: MIM:608323 def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the YARS gene on chromosome 1p35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16429158 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, dominant intermediate C" EXACT [] synonym: "CMTDIC" EXACT [] synonym: "DI-CMTC" EXACT [] xref: MESH:C564257 xref: ORDO:100045 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110200 name: Charcot-Marie-Tooth disease dominant intermediate D def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10406984 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate D" EXACT [] synonym: "CMTDID" EXACT [] synonym: "DI-CMTD" EXACT [] xref: MESH:C564333 xref: MIM:607791 xref: MONDO:0011909 xref: ORDO:100046 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110201 name: Charcot-Marie-Tooth disease recessive intermediate A alt_id: MIM:608340 def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12499475 "DO"] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, recessive intermediate A" EXACT [] synonym: "CMTRIA" EXACT [] synonym: "RI-CMTA" EXACT [] xref: MESH:C564256 xref: ORDO:217055 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110202 name: Charcot-Marie-Tooth disease dominant intermediate A alt_id: MIM:606483 alt_id: MIM:620378 def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in variation in the region 10q24.1-q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11533914 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type A" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, type 2GG" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, Dominant Intermediate A" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2GG" EXACT [] synonym: "CMT2GG" EXACT [] synonym: "CMTDIA" EXACT [] synonym: "DI-CMTA" EXACT [] xref: MESH:C564702 xref: MONDO:0011675 xref: ORDO:100043 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110203 name: Charcot-Marie-Tooth disease recessive intermediate D def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the COX6A1 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25152455 "DO"] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease D" EXACT [] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT [] synonym: "CMTRID" EXACT [] synonym: "RI-CMT type D" EXACT [] xref: MIM:616039 xref: ORDO:435998 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110204 name: Charcot-Marie-Tooth disease recessive intermediate B def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in compound heterozygous mutation in the KARS gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20920668 "DO"] synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" EXACT [] synonym: "CMTRIB" EXACT [] synonym: "RI-CMTB" EXACT [] xref: MIM:613641 xref: ORDO:254334 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110205 name: Charcot-Marie-Tooth disease dominant intermediate E def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the INF2 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22187985 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type E" EXACT [] synonym: "Charcot-Marie-Tooth disease-nephropathy syndrome" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS" EXACT [] synonym: "CMTDIE" EXACT [] synonym: "INF2-RELATED CONDITION" BROAD [] xref: MIM:614455 xref: ORDO:93114 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110206 name: Charcot-Marie-Tooth disease dominant intermediate F def: "A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in heterozygous mutation in the GNB4 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23434117 "DO"] synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type F" EXACT [] synonym: "CMTDIF" EXACT [] xref: MIM:615185 xref: ORDO:352670 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110207 name: Charcot-Marie-Tooth disease X-linked dominant 6 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the PDK3 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23297365 "DO"] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, X-LINKED DOMINANT, 6" EXACT [] synonym: "CMT6X" EXACT [] synonym: "CMTX6" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 6" EXACT [] xref: MIM:300905 xref: ORDO:352675 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0110208 name: Charcot-Marie-Tooth disease X-linked recessive 2 alt_id: MIM:302801 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1557086 "DO"] synonym: "Charcot-Marie-Tooth Neuropathy, X-Linked Recessive, 2" EXACT [] synonym: "CMTX2" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 2" EXACT [] xref: MESH:C535302 xref: ORDO:101076 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110209 name: Charcot-Marie-Tooth disease X-linked dominant 1 alt_id: MIM:302800 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8266101 "DO"] synonym: "Charcot-Marie-Tooth Disease, X-Linked, 1" EXACT [] synonym: "Charcot-Marie-Tooth Neuropathy, X-Linked, 1" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy X-linked dominant 1" EXACT [] synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked" EXACT [] synonym: "CMT1X" EXACT [] synonym: "CMT2" EXACT [] synonym: "CMTX" EXACT [] synonym: "CMTX 1" EXACT [] synonym: "Cmtx1" EXACT [] synonym: "GJB1-RELATED CONDITION" EXACT [] synonym: "GJB1-RELATED DISORDER" EXACT [] synonym: "Hereditary motor and sensory neuropathy, X-linked" EXACT [] synonym: "HMSN, X-linked" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [] xref: MESH:C535919 xref: ORDO:101075 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080009 ! X-linked dominant disease [Term] id: DOID:0110210 name: Charcot-Marie-Tooth disease X-linked recessive 5 alt_id: MIM:311070 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in loss-of-function mutation in the PRPS1 gene on chromosome Xq22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15955956 "DO"] synonym: "CMT5X" EXACT [] synonym: "CMTX5" EXACT [] synonym: "Familial opticoacoustic nerve degeneration and polyneuropathy" EXACT [] synonym: "Optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive" EXACT [] synonym: "Optic atrophy, neural deafness, and distal neurogenic amyotrophy" EXACT [] synonym: "Optic atrophy, polyneuropathy, and deafness" EXACT [] synonym: "Optic Atrophy Polyneuropathy Deafness" EXACT [] synonym: "optic atrophy, sensorineural hearing loss and polyneuropathy" EXACT [] synonym: "Rosenberg Chutorian syndrome" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 5" EXACT [] synonym: "X-linked recessive Charcot-Marie-Tooth neuropathy 5" EXACT [] xref: MESH:C537129 xref: ORDO:99014 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0060140 ! cortical deafness is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:913 ! atrophic muscular disease [Term] id: DOID:0110211 name: Charcot-Marie-Tooth disease X-linked recessive 3 alt_id: MIM:302802 alt_id: RDO:0000340 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in variation in the region Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1557086 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1674639 "DO"] synonym: "Charcot-Marie-Tooth neuropathy, X-linked recessive 3" EXACT [] synonym: "CMT3X" EXACT [] synonym: "CMTX3" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 3" EXACT [] xref: MESH:C535303 xref: ORDO:101077 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110212 name: Charcot-Marie-Tooth disease X-linked recessive 4 alt_id: MIM:310490 def: "A Charcot-Marie-Tooth disease X-linked that has_material_basis_in mutation in the AIFM1 gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23217327 "DO"] synonym: "axonal motor-sensory neuropathy with deafness and mental retardation" EXACT [] synonym: "Charcot-Marie-Tooth disease with deafness and mental retardation" EXACT [] synonym: "Charcot-Marie-Tooth disease X-linked recessive, type 4" EXACT [] synonym: "CMT4X" EXACT [] synonym: "CMTX4" EXACT [] synonym: "Cowchock syndrome" EXACT [] synonym: "COWCK" EXACT [] synonym: "NADMR" EXACT [] synonym: "NAMSD" EXACT [] synonym: "X-linked Charcot-Marie-Tooth disease type 4" EXACT [] synonym: "X-linked recessive Charcot-Marie-Tooth disease 4 with or without cerebellar ataxia" EXACT [] xref: MESH:C536450 xref: ORDO:101078 is_a: DOID:0050542 ! Charcot-Marie-Tooth disease type X is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0110213 name: isolated cleft palate alt_id: RDO:0015182 def: "A cleft palate seen as an isolated malformation, distinct from cleft lip with or without cleft palate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7143384 "DO"] synonym: "isolated cleft palate, and mental retardation" EXACT [] xref: ICD10CM:Q35.1 xref: ICD10CM:Q35.5 xref: ICD10CM:Q35.7 xref: ICD10CM:Q35.9 xref: MESH:C566991 xref: ORDO:2014 is_a: DOID:1059 ! intellectual disability is_a: DOID:674 ! cleft palate [Term] id: DOID:0110214 name: cleft soft palate alt_id: MIM:119570 def: "A cleft palate that is characterized as a fissure type embryopathy that affects in varying degrees the soft palate. (DO)" [https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=99772 "DO"] synonym: "cleft velum" EXACT [] synonym: "cleft velum palatinum" EXACT [] xref: ICD10CM:Q35.3 xref: MESH:C562950 xref: ORDO:99772 is_a: DOID:674 ! cleft palate [Term] id: DOID:0110215 name: Leber congenital amaurosis 5 alt_id: MIM:604537 def: "A Leber congenital amaurosis that is characterized by severe visual dysfunction, nystagmus, the oculodigital sign, and a normal fundus with onset in infancy and has_material_basis_in mutation in the LCA5 gene on chromosome 6q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17546029 "DO"] synonym: "LCA5" EXACT [] synonym: "Leber congenital amaurosis, type 5" EXACT [] xref: MESH:C536602 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110216 name: Leber congenital amaurosis 11 alt_id: MIM:613837 alt_id: RDO:0013196 def: "A Leber congenital amaurosis that has_material_basis_in mutation n the IMPDH1 gene on chromosome 7q31.3-q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16384941 "DO"] synonym: "IMPDH1-RELATED CONDITION" BROAD [] synonym: "LCA11" EXACT [] xref: MESH:C564140 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110217 name: Leber congenital amaurosis 17 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the GDF6 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23307924 "DO"] synonym: "LCA17" EXACT [] xref: MIM:615360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110218 name: Brugada syndrome 1 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN5A gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9521325 "DO"] synonym: "BRGDA1" EXACT [] synonym: "right bundle branch block, St segment elevation, and sudden death syndrome" EXACT [] xref: MIM:601144 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:0110219 name: Brugada syndrome 2 alt_id: MIM:611777 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the GPD1L gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17967977 "DO"] synonym: "BRGDA2" EXACT [] xref: MESH:C567087 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110220 name: Brugada syndrome 3 alt_id: MIM:611875 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the alpha-1C subunit of the L-type voltage-dependent calcium channel (CACNA1C) on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17224476 "DO"] synonym: "BRGDA3" EXACT [] synonym: "CACNA1C-RELATED DISORDER" BROAD [] xref: GARD:10361 xref: MESH:C567509 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110221 name: Brugada syndrome 4 alt_id: MIM:611876 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the gene encoding the beta-2 subunit of the voltage-dependent L-type calcium channel (CACNB2) on chromosome 10p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17224476 "DO"] synonym: "BRGDA4" EXACT [] synonym: "CACNB2-RELATED CONDITION" EXACT [] xref: GARD:10362 xref: MESH:C567508 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110222 name: Brugada syndrome 5 alt_id: MIM:612838 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN1B gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18464934 "DO"] synonym: "BRGDA5" EXACT [] synonym: "CARDIAC CONDUCTION DEFECT, NONSPECIFIC" NARROW [] xref: MESH:C567556 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110223 name: Brugada syndrome 6 alt_id: MIM:613119 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCNE3 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19122847 "DO"] synonym: "BRGDA6" EXACT [] xref: ICD10CM:I49.8 xref: MESH:C567735 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110224 name: Brugada syndrome 7 alt_id: DOID:9001394 alt_id: MIM:613120 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the SCN3B gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20031595 "DO"] synonym: "ATFB16" RELATED [] synonym: "atrial fibrillation 16" RELATED [] synonym: "BRGDA7" EXACT [] synonym: "familial atrial fibrillation 16" RELATED [] xref: MESH:C567734 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:0050650 ! familial atrial fibrillation is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110225 name: Brugada syndrome 8 alt_id: MIM:613123 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the HCN4 gene on chromosome 15q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19165230 "DO"] synonym: "BRGDA8" EXACT [] xref: MESH:C567732 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:0110226 name: Brugada syndrome 9 def: "A Brugada syndrome that has_material_basis_in heterozygous mutation in the KCND3 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21349352 "DO"] synonym: "BRGDA9" EXACT [] xref: MIM:616399 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110227 name: cataract 32 multiple types alt_id: MIM:115650 def: "A cataract that has_material_basis_in mutation in the region 14q22-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6694185 "DO"] synonym: "anterior polar cataract" EXACT [] synonym: "anterior polar cataract 1" EXACT [] synonym: "anterior polar cataract 5" EXACT [] synonym: "anterior polar cataract, dominant" EXACT [] synonym: "CAP" EXACT [] synonym: "CTAA1" EXACT [] synonym: "CTPP5" EXACT [] synonym: "CTRCT32" EXACT [] synonym: "posterior polar cataract 5" NARROW [] xref: MESH:C538282 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110228 name: cataract 8 multiple types alt_id: MIM:115665 def: "A cataract that has_material_basis_in variation in the region 1pter-p36.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7607651 "DO"] synonym: "Cataract Congenital Volkmann Type" EXACT [] synonym: "CCV" EXACT [] synonym: "CTRCT8" EXACT [] xref: MESH:C538285 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110229 name: cataract 6 multiple types alt_id: MIM:116600 def: "A cataract that has_material_basis_in heterozygous mutation in the EPHA2 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19005574 "DO"] synonym: "age-cortical cataract 2" EXACT [] synonym: "age-related cortical cataract" BROAD [] synonym: "age-related cortical cataract 2" EXACT [] synonym: "age-related cortical cataract 6" EXACT [] synonym: "ARCC2" EXACT [] synonym: "CTPP1" EXACT [] synonym: "CTRCT6" EXACT [] synonym: "posterior polar cataract 1" EXACT [] xref: MESH:C535339 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110230 name: cataract 34 multiple types alt_id: MIM:612968 alt_id: RDO:0012056 def: "A cataract that has_material_basis_in variation in the region 1p34.3-p32.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17893665 "DO"] synonym: "autosomal recessive congenital cataract 3" EXACT [] synonym: "cataract 34 multiple types with or without microcornea" EXACT [] synonym: "CATC3" EXACT [] synonym: "CTRCT34" EXACT [] xref: MESH:C567835 is_a: DOID:83 ! cataract [Term] id: DOID:0110231 name: cataract 1 multiple types alt_id: MIM:116200 def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9497259 "DO"] synonym: "CAE1" EXACT [] synonym: "CATARACT 1, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA" EXACT [] synonym: "Cataract, Duffy-Linked" EXACT [] synonym: "Cataract, Zonular Pulverulent 1" EXACT [] synonym: "CTRCT1" EXACT [] synonym: "CZP" EXACT [] synonym: "CZP1" EXACT [] synonym: "Pulverulent Zonular Cataract" EXACT [] xref: MESH:C566158 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110232 name: cataract 29 def: "A cataract that has_material_basis_in variation in the region 2pter-p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15933805 "DO"] synonym: "cataract 29 coralliform" EXACT [] xref: MIM:115800 xref: ORDO:98990 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0110233 name: cataract 27 alt_id: MIM:607304 def: "A cataract that has_material_basis_in mutation in the region 2p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12091400 "DO"] synonym: "cataract 27 nuclear progressive" EXACT [] synonym: "Cataract, Congenital, Nuclear Progressive" EXACT [] synonym: "CCNP" EXACT [] synonym: "CTRCT27" EXACT [] synonym: "nuclear progressive cataract" EXACT [] xref: MESH:C564596 is_a: DOID:630 ! genetic disease is_a: DOID:83 ! cataract [Term] id: DOID:0110234 name: cataract 4 multiple types alt_id: MESH:C563819 alt_id: MESH:C565131 def: "A cataract that has_material_basis_in heterozygous mutation in the gamma-D-crystallin gene (CRYGD) on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9927684 "DO"] synonym: "CACA" EXACT [] synonym: "cataract 4" EXACT [] synonym: "cataract 4, multiple types, with or without microcornea" EXACT [] synonym: "CCA3" EXACT [] synonym: "congenital blue dot type cataract, 3" EXACT [] synonym: "congenital cataract, cerulean type 3" EXACT [] synonym: "CTRCT4" EXACT [] synonym: "nonnuclear polymorphic congenital cataract" EXACT [] synonym: "PCC" EXACT [] synonym: "punctate cataract, progressive juvenile-onset" EXACT [] xref: MIM:115700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110235 name: cataract 2 multiple types alt_id: MESH:C565133 def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGC gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10521291 "DO"] synonym: "CATARACT 2, COPPOCK-LIKE" EXACT [] synonym: "cataract 2 multiple types with or without microcornea" EXACT [] synonym: "Cataract, Coppock-Like" EXACT [] synonym: "Cataract, Embryonic Nuclear" EXACT [] synonym: "CCL" EXACT [] synonym: "CRYGC-RELATED CONDITION" EXACT [] synonym: "CTRCT2" EXACT [] synonym: "nuclear pulverulent cataract" NARROW [] xref: MIM:604307 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110236 name: cataract 39 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGB gene on chromosome 2q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23288985 "DO"] synonym: "autosomal dominant cataract 39 multiple types" EXACT [] synonym: "autosomal dominant cataract, multiple types 2" EXACT [] synonym: "CTRCT39" EXACT [] xref: MIM:615188 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110237 name: cataract 42 def: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA2 gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23508780/ "DO"] synonym: "CRYBA2-RELATED CONDITION" EXACT [] synonym: "CTRCT42" RELATED [] xref: MIM:115900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110238 name: cataract 18 alt_id: MIM:610019 def: "A cataract that has_material_basis_in homozygous mutation in the FYCO1 gene on chromosome 3p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21636066 "DO"] synonym: "autosomal recessive congenital cataract 2" EXACT [] synonym: "cataract 18 autosomal recessive" EXACT [] synonym: "CATC2" EXACT [] synonym: "CTRCT18" EXACT [] synonym: "FYCO1-RELATED CONDITION" EXACT [] xref: MESH:C535337 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110239 name: cataract 12 multiple types alt_id: MIM:611597 def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding beaded filament structural protein-2 (BFSP2) on chromosome 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10729115 "DO"] synonym: "autosomal dominant cataract, multiple types 1" EXACT [] synonym: "BFSP2-RELATED CONDITION" EXACT [] synonym: "CTRCT12" EXACT [] xref: MESH:C566909 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110240 name: cataract 20 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the CRYGS gene on chromosome 3q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16141006 "DO"] synonym: "CTRCT20" EXACT [] xref: MIM:116100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110241 name: cataract 41 alt_id: MIM:116400 def: "A cataract that has_material_basis_in heterozygous mutation in the WFS1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23531866 "DO"] synonym: "Cataract 41, Congenital Nuclear Type" EXACT [] synonym: "Cataract, Nuclear Total" EXACT [] synonym: "CTRCT41" EXACT [] xref: MESH:C566156 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110242 name: cataract 13 with adult i phenotype alt_id: MIM:110800 alt_id: MIM:116700 def: "A cataract that has_material_basis_in homozygous or compound heterozygous mutation in the GCNT2 gene on chromosome 6p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11739194 "DO"] synonym: "adult i blood group phenotype" EXACT [] synonym: "Adult i Blood Group with Congenital Cataract" EXACT [] synonym: "ADULT i BLOOD GROUP WITH OR WITHOUT CONGENITAL CATARACT" EXACT [] synonym: "Adult i Blood Group without Congenital Cataract" NARROW [] synonym: "adult i phenotype without cataract" NARROW [] synonym: "CTRCT13" EXACT [] synonym: "I BLOOD GROUP SYSTEM" RELATED [] xref: MESH:C566214 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110243 name: cataract 46 juvenile-onset def: "A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26788539 "DO"] synonym: "cataract, Hutterite type" EXACT [] synonym: "CTRCT46" EXACT [] synonym: "juvenilae cataract Hutterite type" EXACT [] synonym: "juvenile cataract, Hutterite type" EXACT [] synonym: "juvenile-onset cataract-46 with or without arrhythmic cardiomyopathy" EXACT [] xref: MESH:C538286 xref: MIM:212500 xref: MONDO:0008925 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110244 name: cataract 28 alt_id: MIM:609026 def: "A cataract that has_material_basis_in variation in the region 6p12-q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15452352 "DO"] synonym: "age-related cortical cataract 1" EXACT [] synonym: "ARCC1" EXACT [] synonym: "CATARACT, AGE-CORTICAL, 1" RELATED [] synonym: "CTRCT28" EXACT [] xref: MESH:C563812 is_a: DOID:13574 ! cortical senile cataract is_a: DOID:630 ! genetic disease is_a: DOID:83 ! cataract [Term] id: DOID:0110245 name: cataract 38 def: "A cataract that has_material_basis_in homozygous mutation in the AGK gene on chromosome 7q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22415731 "DO"] synonym: "AGK-related disorder" EXACT [] synonym: "AGK-related disorders" EXACT [] synonym: "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 5" EXACT [] synonym: "CATC5" EXACT [] synonym: "CTRCT38" EXACT [] xref: MIM:614691 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110246 name: cataract 26 multiple types alt_id: MIM:605749 def: "A cataract that has_material_basis_in variation in the region 9q13-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11179024 "DO"] synonym: "CAAR" EXACT [] synonym: "Cataract, Autosomal Recessive, Early-Onset, Pulverulent" EXACT [] synonym: "CTRCT26" EXACT [] xref: MESH:C565298 is_a: DOID:630 ! genetic disease is_a: DOID:83 ! cataract [Term] id: DOID:0110247 name: cataract 36 def: "A cataract that has_material_basis_in homozygous mutation in the TDRD7 gene on chromosome 9q22.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21436445 "DO"] synonym: "autosomal recessive congenital cataract 4" EXACT [] synonym: "CATC4" EXACT [] synonym: "CTRCT36" EXACT [] xref: MIM:613887 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110248 name: cataract 30 alt_id: MESH:C566157 def: "A cataract that has_material_basis_in heterozygous mutation in the VIM gene on chromosome 10p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19126778 "DO"] synonym: "CATARACT 30, MULTIPLE TYPES" EXACT [] synonym: "Cataract 30, pulverulent" EXACT [] synonym: "cataract Coppock-like" EXACT [] synonym: "Cataract, Nuclear Diffuse Nonprogressive" EXACT [] synonym: "CTRCT30" EXACT [] synonym: "Dusty cataract" EXACT [] xref: MIM:116300 xref: ORDO:98984 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110249 name: cataract 11 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the PITX3 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9620774 "DO"] synonym: "CATARACT 11, POSTERIOR POLAR" EXACT [] synonym: "CPP4" EXACT [] synonym: "CTPP4" EXACT [] synonym: "CTRCT11" EXACT [] synonym: "PITX3-RELATED CONDITION" BROAD [] synonym: "posterior polar cataract 4" EXACT [] xref: MESH:C535344 xref: MIM:610623 xref: MONDO:0012527 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110250 name: cataract 16 multiple types def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the CRYAB gene on chromosome 11q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11577372 "DO"] synonym: "CATARACT, CONGENITAL LAMELLAR" EXACT [] synonym: "CTPP2" NARROW [] synonym: "CTRCT16" EXACT [] synonym: "posterior polar cataract 2" NARROW [] xref: MESH:C565134 xref: MIM:613763 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110251 name: cataract 15 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the MIP gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10802646 "DO"] synonym: "CTRCT15" EXACT [] synonym: "MIP-RELATED CONDITION" EXACT [] xref: MIM:615274 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110252 name: cataract 37 def: "A cataract that has_material_basis_in variation in the region 12q24.2-q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21731060 "DO"] synonym: "CCA5" EXACT [] synonym: "congenital cataract cerulean type 5" EXACT [] synonym: "CTRCT37" EXACT [] xref: MIM:614422 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0110253 name: cataract 14 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the gene encoding gap junction protein alpha-3 (GJA3) on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9199569 "DO"] synonym: "CAE3" EXACT [] synonym: "CTRCT14" EXACT [] synonym: "CZP3" NARROW [] synonym: "zonular pulverulent cataract 3" NARROW [] xref: MESH:C566608 xref: MIM:601885 xref: MONDO:0011162 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110254 name: cataract 25 alt_id: MIM:605728 def: "A cataract that has_material_basis_in variation in the region 15q21-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11133359 "DO"] synonym: "CCSSO" EXACT [] synonym: "central pouch-like cataract with sutural opacities" EXACT [] synonym: "central saccular cataract with sutural opacities" EXACT [] synonym: "CTRCT25" EXACT [] synonym: "early-onset cataract with Y-shaped suture opacities" EXACT [] xref: MESH:C565301 xref: ORDO:98985 is_a: DOID:630 ! genetic disease is_a: DOID:83 ! cataract [Term] id: DOID:0110255 name: cataract 5 multiple types alt_id: MIM:116800 alt_id: OMIA:001758 def: "A cataract that has_material_basis_in heterozygous mutation in the gene that encodes heat-shock transcription factor-4 (HSF4) on chromosome 16q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12089525 "DO"] synonym: "CAM" EXACT [] synonym: "Cataract, Marner Type" EXACT [] synonym: "CTM" EXACT [] synonym: "CTRCT5" EXACT [] synonym: "early onset cataract" EXACT [] synonym: "lamellar cataract" EXACT [] synonym: "perinuclear cataract" EXACT [] synonym: "zonular cataract" EXACT [] xref: MESH:C535342 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110256 name: cataract 21 multiple types alt_id: MIM:610202 def: "A cataract that has_material_basis_in heterozygous mutation in the MAF gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11772997 "DO"] synonym: "cataract 21 multiple types, with or without microcornea" EXACT [] synonym: "CCA4" EXACT [] synonym: "congenital cataract, cerulean type, 4" EXACT [] synonym: "CTRCT21" EXACT [] synonym: "pulverulent cataract, juvenile-onset" EXACT [] xref: MESH:C565703 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110257 name: cataract 24 alt_id: MIM:601202 def: "A cataract that has_material_basis_in variation in the region 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8852669 "DO"] synonym: "anterior polar cataract 2" NARROW [] synonym: "anterior polar cataract 24" NARROW [] synonym: "CTAA2" NARROW [] synonym: "CTRCT24" EXACT [] xref: MESH:C537774 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110258 name: cataract 10 multiple types alt_id: MIM:600881 def: "A cataract that has_material_basis_in heterozygous mutation in the CRYBA1 gene on chromosome 17q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7573044 "DO"] synonym: "CCZS" NARROW [] synonym: "congenital zonular cataract with sutural opacities" NARROW [] synonym: "CTRCT10" EXACT [] xref: MESH:C563435 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110259 name: cataract 43 def: "A cataract that has_material_basis_in heterozygous mutation in the UNC45B gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24549050 "DO"] synonym: "CTRCT43" EXACT [] xref: MIM:616279 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110260 name: cataract 7 alt_id: MIM:115660 def: "A cataract that has_material_basis_in variation in the region 17q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7704021 "DO"] synonym: "CATARACT 7, CERULEAN TYPE" EXACT [] synonym: "CCA1" EXACT [] synonym: "Cerulean Cataract" EXACT [] synonym: "congenital cataract, blue dot type 1" EXACT [] synonym: "congenital cataract, cerulean type 1" EXACT [] synonym: "CTRCT7" EXACT [] xref: MESH:C537955 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110261 name: cataract 35 alt_id: MIM:609376 def: "A cataract that has_material_basis_in variation in the region 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15671291 "DO"] synonym: "autosomal recessive congenital nuclear cataract 1" EXACT [] synonym: "cataract 35, congenital nuclear" EXACT [] synonym: "CATCN1" EXACT [] synonym: "CTRCT35" EXACT [] xref: MESH:C563728 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0110262 name: cataract 45 def: "A cataract that has_material_basis_in homozygous mutation in the SIPA1L3 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25804400 "DO"] synonym: "CTRCT45" EXACT [] xref: MIM:616851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110263 name: cataract 19 multiple types def: "A cataract that has_material_basis_in homozygous mutation in the LIM2 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11917274 "DO"] synonym: "CATARACT 19" EXACT [] synonym: "CTRCT19" EXACT [] xref: ICD10CM:Q12.0 xref: MIM:615277 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110264 name: cataract 33 alt_id: MIM:611391 def: "A cataract that has_material_basis_in homozygous mutation in the beaded filament structural protein-1 gene (BFSP1) on chromosome 20p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17225135 "DO"] synonym: "CATARACT 33, MULTIPLE TYPES" EXACT [] synonym: "cortical cataract 33" EXACT [] synonym: "cortical cataract, juvenile-onset" RELATED [] synonym: "CTRCT33" EXACT [] xref: MESH:C566955 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110265 name: cataract 31 multiple types alt_id: MIM:605387 def: "A cataract that has_material_basis_in heterozygous mutation in the CHMP4B gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17701905 "DO"] synonym: "CPP3" EXACT [] synonym: "CTPP3" EXACT [] synonym: "CTRCT31" EXACT [] synonym: "posterior polar cataract 3" EXACT [] xref: MESH:C535343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110266 name: cataract 9 multiple types alt_id: MIM:604219 def: "A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26867756 "DO", https://www.omim.org/entry/604219 "DO"] synonym: "CATARACT 9, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Cataract 9, multiple types, with or without microcornea" EXACT [] synonym: "Cataract, Autosomal Dominant" NARROW [] synonym: "Cataract, autosomal dominant, multiple types, with microcornea" NARROW [] synonym: "CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1" EXACT [] synonym: "CATC1" EXACT [] synonym: "CTRCT9" EXACT [] xref: MESH:C565815 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110267 name: cataract 44 def: "A cataract that has_material_basis_in homozygous mutation in the LSS gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26200341 "DO"] synonym: "congenital cataract-44" EXACT [] synonym: "CTRCT44" EXACT [] synonym: "total early-onset cataract" EXACT [] xref: MIM:616509 xref: ORDO:98994 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract [Term] id: DOID:0110268 name: cataract 22 multiple types alt_id: MIM:609741 def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15914629 "DO"] synonym: "Cataract, Congenital Nuclear, Autosomal Recessive 2" EXACT [] synonym: "CATCN2" EXACT [] synonym: "CTRCT22" EXACT [] xref: MESH:C565725 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0110269 name: cataract 3 multiple types def: "A cataract that has_material_basis_in heterozygous mutation in the beta-B2-crystallin gene (CRYBB2) on chromosome 22q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9158139 "DO"] synonym: "cataract 3 multiple types with or without microcornea" EXACT [] synonym: "Cataract, Congenital, Blue Dot Type, 2" EXACT [] synonym: "CCA2" NARROW [] synonym: "congenital Cerulean type cataract 2" NARROW [] synonym: "CTRCT3" EXACT [] xref: MESH:C563294 xref: MIM:601547 xref: MONDO:0011104 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract [Term] id: DOID:0110270 name: cataract 17 multiple types alt_id: MIM:611544 def: "A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B1 crystallin gene (CRYBB1) on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12360425 "DO"] synonym: "CATARACT 17, MULTIPLE TYPES, WITH OR WITHOUT MICROCORNEA" EXACT [] synonym: "Cataract, Congenital Nuclear, Autosomal Recessive 3" EXACT [] synonym: "CATCN3" EXACT [] synonym: "CTRCT17" EXACT [] xref: MESH:C566923 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0110271 name: cataract 23 def: "A cataract that has_material_basis_in heterozygous mutation in the crystallin beta-A4 gene (CRYBA4) on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16960806 "DO"] synonym: "cataract 23, multiple types" EXACT [] synonym: "cataract 23, multiple types, with or without microcornea" EXACT [] synonym: "CTRCT23" EXACT [] synonym: "lamellar cataract 23" EXACT [] xref: MIM:610425 is_a: DOID:83 ! cataract [Term] id: DOID:0110272 name: cataract 40 alt_id: MIM:302200 def: "A cataract that has_material_basis_in mutation in the NHS gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15370543 "DO"] synonym: "CATARACT 40 WITH OR WITHOUT MICROCORNEA" EXACT [] synonym: "cataract 40, X-linked" EXACT [] synonym: "Cataract, total congenital with posterior sutural opacities in Heterozygotes" EXACT [] synonym: "CCT" EXACT [] synonym: "congenital cataract with microcornea or slight microphthalmia" EXACT [] synonym: "CTRCT40" EXACT [] synonym: "CXN" EXACT [] synonym: "NHS-RELATED CONDITION" BROAD [] synonym: "total congenital cataract" EXACT [] synonym: "X-linked congenital cataract" EXACT [] xref: MESH:C535338 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10629 ! microphthalmia is_a: DOID:83 ! cataract [Term] id: DOID:0110273 name: autosomal dominant limb-girdle muscular dystrophy def: "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3275904 "DO"] xref: MIM:PS603511 xref: ORDO:102014 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11724 ! limb-girdle muscular dystrophy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110274 name: autosomal recessive limb-girdle muscular dystrophy def: "A limb-girdle muscular dystrophy has_material_basis_in autosomal recessive inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13810212 "DO"] synonym: "recessive limb-girdle muscular dystrophy" EXACT [] xref: MESH:C538640 xref: MIM:PS253600 xref: ORDO:102015 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11724 ! limb-girdle muscular dystrophy [Term] id: DOID:0110275 name: autosomal recessive limb-girdle muscular dystrophy type 2A def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7720071 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy, 1" EXACT [] synonym: "calpainopathy" EXACT [] synonym: "CAPN3-RELATED DISORDER" BROAD [] synonym: "eosinophilic myositis" NARROW [] synonym: "Leyden-Moebius muscular dystrophy" EXACT [] synonym: "LGMD2" EXACT [] synonym: "LGMD2A" EXACT [] synonym: "LGMDR1" EXACT [] synonym: "limb-girdle muscular dystrophy due to calpain deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 2" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2A" EXACT [] synonym: "pelvofemoral muscular dystrophy" EXACT [] synonym: "primary calpainopathy" EXACT [] xref: EFO:0000310 xref: GARD:3845 xref: MESH:C535895 xref: MIM:253600 xref: MONDO:0009675 xref: NCI:C142079 xref: ORDO:267 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110276 name: autosomal recessive limb-girdle muscular dystrophy type 2B def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731527 "DO"] synonym: "LGMD2B" EXACT [] synonym: "LGMD3" EXACT [] synonym: "limb-girdle muscular dystrophy due to dysferlin deficiency" EXACT [] synonym: "LIMB-GIRDLE MUSCULAR DYSTROPHY, TYPE 2B" EXACT [] synonym: "Muscular dystrophy, limb-girdle, type 3" EXACT [] xref: MESH:C535899 xref: MIM:253601 xref: MONDO:0009676 xref: NCI:C142080 xref: ORDO:268 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110277 name: autosomal recessive limb-girdle muscular dystrophy type 2C alt_id: MIM:253700 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7481775 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 5" EXACT [] synonym: "DMDA" EXACT [] synonym: "DMDA1" EXACT [] synonym: "Duchenne-like muscular dystrophy, autosomal recessive, type 1" EXACT [] synonym: "gamma-sarcoglycanopathy" EXACT [] synonym: "LGMD2C" EXACT [] synonym: "LGMDR5" EXACT [] synonym: "limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency" EXACT [] synonym: "Maghrebian myopathy" EXACT [] synonym: "Muscular dystrophy, Duchenne-like" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2C" EXACT [] synonym: "SARCOGLYCAN, GAMMA, DEFICIENCY OF" EXACT [] synonym: "SCARMD" EXACT [] synonym: "secondary adhalin deficiency" EXACT [] synonym: "severe autosomal recessive muscular dystrophy of childhood - North African type" EXACT [] synonym: "severe childhood autosomal recessive muscular dystrophy, North African type" EXACT [] xref: MESH:C535900 xref: ORDO:353 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110278 name: autosomal recessive limb-girdle muscular dystrophy type 2D def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the alpha-sarcoglycan gene (SGCA) on chromosome 17q. (DO)" [https://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/30055862 "DO"] synonym: "adhalinopathies" EXACT [] synonym: "alpha-sarcoglycanopathies" EXACT [] synonym: "alpha-sarcoglycanopathy" EXACT [] synonym: "DMDA2" EXACT [] synonym: "Duchenne-like autosomal recessive muscular dystrophy type 2" EXACT [] synonym: "LGMD2D" EXACT [] synonym: "LGMDR3" EXACT [] synonym: "limb-girdle muscular dystrophy, autosomal recessive 3" EXACT [] synonym: "limb girdle muscular dystrophy, type 2D" EXACT [] synonym: "limb girdle muscular dystrophy with alpha sarcoglycan deficiency" EXACT [] synonym: "primary adhalinopathies" EXACT [] synonym: "primary adhalinopathy" EXACT [] synonym: "sarcoglycanopathies" EXACT [] synonym: "sarcoglycanopathy" EXACT [] xref: MESH:D058088 xref: MIM:608099 xref: MONDO:0011968 xref: NCI:C142081 xref: ORDO:62 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:0110279 name: autosomal recessive limb-girdle muscular dystrophy type 2E alt_id: MESH:C535435 alt_id: MIM:604286 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7581448 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 4" EXACT [] synonym: "beta-sarcoglycan limb-girdle muscular dystrophy" EXACT [] synonym: "beta-sarcoglycanopathy" EXACT [] synonym: "LGMD2E" EXACT [] synonym: "LGMDR4" EXACT [] synonym: "limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy with beta-sarcoglycan deficiency" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT [] xref: MESH:C535902 xref: NCI:C180849 xref: ORDO:119 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110280 name: autosomal recessive limb-girdle muscular dystrophy type 2F alt_id: MIM:601287 alt_id: OMIA:002122 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the sarcoglycan-delta gene (SGCD). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8841194 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 6" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy 6, digenic" NARROW [] synonym: "DELTA-SARCOGLYCANOPATHY" EXACT [] synonym: "LGMD2F" EXACT [] synonym: "LGMDR6" EXACT [] synonym: "limb-girdle muscular dystrophy 2F" EXACT [] synonym: "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 2F" EXACT [] synonym: "limb-girdle muscular dystrophy type 2f, digenic" NARROW [] synonym: "limb-girdle muscular dystrophy with delta-sarcoglyan deficiency" EXACT [] xref: MESH:C535896 xref: ORDO:219 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110281 name: autosomal recessive limb-girdle muscular dystrophy type 2G def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding telethonin (TCAP). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10655062 "DO"] synonym: "LGMD2G" EXACT [] synonym: "limb-girdle muscular dystrophy due to telethonin deficiency" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT [] xref: MESH:C566599 xref: MIM:601954 xref: MONDO:0011170 xref: ORDO:34514 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110282 name: autosomal recessive limb-girdle muscular dystrophy type 2H def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in mutation in the gene encoding tripartite motif-containing protein-32 (TRIM32) on chromosome 9q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11822024 "DO"] synonym: "LGMD2H" EXACT [] synonym: "LGMDR8" EXACT [] synonym: "limb-girdle muscular dystrophy due to TRIM32 deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy type 2H" EXACT [] synonym: "muscular dystrophy Hutterite type" EXACT [] synonym: "sarcotubular myopathy" EXACT [] synonym: "TRIM32-RELATED CONDITION" BROAD [] xref: GARD:3844 xref: MESH:C535897 xref: MIM:254110 xref: MONDO:0009683 xref: ORDO:1878 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110283 name: autosomal recessive limb-girdle muscular dystrophy type 2J alt_id: MIM:608807 alt_id: RDO:0013004 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the titin gene (TTN). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12145747 "DO"] synonym: "LGMD2J" EXACT [] synonym: "LGMDR10" EXACT [] synonym: "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 10" EXACT [] synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [] xref: ICD10CM:G71.0 xref: MESH:C563854 xref: ORDO:140922 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110284 name: autosomal recessive limb-girdle muscular dystrophy type 2L alt_id: MIM:611307 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20096397 "DO"] synonym: "anoctaminopathy" EXACT [] synonym: "LGMD2L" EXACT [] synonym: "limb-girdle muscular dystrophy type 2L" EXACT [] xref: MESH:C566968 xref: ORDO:206549 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110285 name: autosomal recessive limb-girdle muscular dystrophy type 2Q def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the PLEC1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21109228 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 17" EXACT [] synonym: "autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency" EXACT [] synonym: "LGMD2Q" EXACT [] synonym: "LGMDR17" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2Q" EXACT [] xref: MIM:613723 xref: ORDO:254361 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110287 name: autosomal recessive limb-girdle muscular dystrophy type 2S def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TRAPPC11 gene on chromosome 4q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23830518 "DO"] synonym: "LGMD2S" EXACT [] synonym: "LGMDR18" EXACT [] synonym: "limb-girdle muscular dystrophy, autosomal recessive 18" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2S" EXACT [] xref: MIM:615356 xref: MONDO:0014144 xref: ORDO:369840 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110288 name: autosomal recessive limb-girdle muscular dystrophy type 2W def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in compound heterozygous mutation in the LIM zinc finger domain containing 2 gene (LIMS2) on chromosome 2q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25589244 "DO"] synonym: "autosomal recessive muscular dystrophy with cardiomyopathy and triangular tongue" EXACT [] synonym: "LGMD2W" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2W" EXACT [] xref: MIM:616827 xref: ORDO:466801 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110289 name: autosomal recessive limb-girdle muscular dystrophy type 2Y def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the TOR1AIP1 gene on chromosome 1q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24856141 "DO"] synonym: "autosomal recessive muscular dystrophy due to LAP1B deficiency" EXACT [] synonym: "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" EXACT [] synonym: "autosomal recessive myopathy with rigid spine and distal joint contractures" EXACT [] synonym: "LGMD2Y" EXACT [] synonym: "limb-girdle muscular dystrophy type 2Y" EXACT [] synonym: "MRRSDC" EXACT [] synonym: "muscular dystrophy with progressive weakness, distal contractures and rigid spine" EXACT [] xref: MIM:617072 xref: NCI:C181000 xref: ORDO:424261 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110290 name: autosomal recessive limb-girdle muscular dystrophy type 2X def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26642364 "DO"] synonym: "CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE" EXACT [] synonym: "CARICK" EXACT [] synonym: "LGMD2X" EXACT [] synonym: "LGMDR25" EXACT [] synonym: "limb-girdle muscular dystrophy, autosomal recessive 25" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2X" EXACT [] xref: MIM:616812 xref: ORDO:476084 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0110291 name: Leber congenital amaurosis 10 def: "A Leber congenital amaurosis that is characterized by severe infantile-onset cone-rod dystrophy with high hyperopia and severe ERG abnormalities and has_material_basis_in mutation in the CEP290 gene on chromosome 12q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16909394 "DO"] synonym: "LCA10" EXACT [] xref: MESH:C565720 xref: MIM:611755 xref: MONDO:0012723 is_a: DOID:0050177 ! monogenic disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110292 name: autosomal recessive limb-girdle muscular dystrophy type 2O def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding protein O-mannose beta-1,2-N-acetylglucosaminyltransferase (POMGNT1) on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18195152 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 15" EXACT [] synonym: "LGMD2O" EXACT [] synonym: "LGMDR15" EXACT [] synonym: "MDDGC3" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C3" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXACT [] xref: MIM:613157 xref: ORDO:206564 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110293 name: autosomal recessive limb-girdle muscular dystrophy type 2P alt_id: RDO:9000584 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gene encoding alpha-dystroglycan (DAG1) on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21388311 "DO"] synonym: "LGMD2P" EXACT [] synonym: "MDDGC9" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C9" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, DAG1-RELATED" EXACT [] synonym: "MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2P" EXACT [] xref: MIM:613818 xref: ORDO:280333 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0110294 name: autosomal recessive limb-girdle muscular dystrophy type 2T def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23768512 "DO"] synonym: "LGMD2T" EXACT [] synonym: "MDDGC14" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C14" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle GMPPB-related" EXACT [] synonym: "muscular dystrophy limb-girdle type 2T" EXACT [] xref: MIM:615352 xref: ORDO:363623 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110295 name: autosomal recessive limb-girdle muscular dystrophy type 2U def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the ISPD gene on chromosome 7p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23390185 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [] synonym: "LGMD2U" EXACT [] synonym: "MDDGC7" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C7" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7" EXACT [] synonym: "muscular dystrophy limb-girdle type 2U" EXACT [] xref: MIM:616052 xref: ORDO:352479 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110296 name: autosomal recessive limb-girdle muscular dystrophy type 2M alt_id: MIM:611588 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin (FKTN) on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17044012 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 13" EXACT [] synonym: "LGMD2M" EXACT [] synonym: "LGMDR13" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C4" EXACT [] synonym: "limb-girdle muscular dystrophy type 2M" EXACT [] synonym: "MDDGC4" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 4" EXACT [] xref: MESH:C566912 xref: ORDO:206554 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110297 name: autosomal recessive limb-girdle muscular dystrophy type 2K def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15792865 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 11" EXACT [] synonym: "LGMD2K" EXACT [] synonym: "LGMDR11" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C1" EXACT [] synonym: "limb-girdle muscular dystrophy-intellectual disability syndrome" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2K" EXACT [] synonym: "MDDGC1" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1" EXACT [] synonym: "POMT1-related muscle-eye-brain disease" EXACT [] synonym: "POMT1-related muscle-eye-brain diseases" EXACT [] xref: EFO:0009145 xref: MIM:609308 xref: NCI:C133730 xref: ORDO:86812 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110298 name: autosomal recessive limb-girdle muscular dystrophy type 2N def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17878207 "DO"] synonym: "LGMD2N" EXACT [] synonym: "LGMDR14" EXACT [] synonym: "limb-girdle muscular dystrophy, autosomal recessive 14" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, POMT2-related" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C2" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2N" EXACT [] synonym: "MDDGC2" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 2" EXACT [] xref: MIM:613158 xref: ORDO:206559 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110299 name: autosomal recessive limb-girdle muscular dystrophy type 2I alt_id: MIM:607155 def: "An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding fukutin-related protein (FKRP) on chromosome 19q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11592034 "DO"] synonym: "autosomal recessive limb-girdle muscular dystrophy 9" EXACT [] synonym: "LGMD2I" EXACT [] synonym: "LGMDR9" EXACT [] synonym: "limb-girdle muscular dystrophy due to FKRP deficiency" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, FRKP-related" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy, type C5" EXACT [] synonym: "limb-girdle muscular dystrophy, type 2I" EXACT [] synonym: "MDDGC5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 5" EXACT [] xref: MESH:C564612 xref: NCI:C126739 xref: ORDO:34515 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:0110303 name: autosomal dominant limb-girdle muscular dystrophy type 1H def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in variation in the region 3p25.1-p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20068593 "DO"] synonym: "LGMD1H" EXACT [] synonym: "muscular dystrophy limb-girdle type 1H" EXACT [] xref: MIM:613530 xref: ORDO:238755 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110304 name: autosomal dominant limb-girdle muscular dystrophy type 2 alt_id: MIM:608423 alt_id: RDO:0013268 def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the TNPO3 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23543484 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23667635 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1F" EXACT [] synonym: "LGMD1F" EXACT [] synonym: "muscular dystrophy limb-girdle type 1F" EXACT [] xref: MESH:C564242 xref: ORDO:55595 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110305 name: autosomal dominant limb-girdle muscular dystrophy type 1 alt_id: MESH:C566370 alt_id: MESH:C566589 def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the DNAJB6 gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22334415 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy 1" EXACT [] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" EXACT [] synonym: "LGMD1D" EXACT [] synonym: "LGMD1E" EXACT [] synonym: "LGMDD1" EXACT [] synonym: "muscular dystrophy limb-girdle type 1D" EXACT [] synonym: "muscular dystrophy limb-girdle type 1E" EXACT [] xref: MIM:603511 xref: ORDO:34517 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110306 name: autosomal dominant limb-girdle muscular dystrophy type 3 alt_id: MIM:609115 alt_id: RDO:0012962 def: "An autosomal dominant limb-girdle muscular dystrophy that has_material_basis_in heterozygous mutation in the HNRNPDL gene on chromosome 4q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24647604 "DO"] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1G" EXACT [] synonym: "LGMD1G" EXACT [] synonym: "muscular dystrophy limb-girdle type 1G" EXACT [] xref: MESH:C563794 xref: ORDO:55596 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy [Term] id: DOID:0110307 name: hypertrophic cardiomyopathy 1 alt_id: DOID:0110325 alt_id: MIM:192600 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1975517 "DO"] synonym: "ASH" EXACT [] synonym: "asymmetric septal hypertrophy" EXACT [] synonym: "cardiomyopathy, familial hypertrophic 1" EXACT [] synonym: "CARDIOMYOPATHY, HYPERTROPHIC, MIDVENTRICULAR, DIGENIC" EXACT [] synonym: "CMH" EXACT [] synonym: "CMH1" EXACT [] synonym: "hypertrophic cardiomyopathy 19" EXACT [] synonym: "idiopathic hypertrophic subaortic stenosis" EXACT [] xref: MESH:C566005 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110308 name: hypertrophic cardiomyopathy 2 alt_id: MIM:115195 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the cardiac troponin-T2 gene (TNNT2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8205619 "DO"] synonym: "cardiomyopathy familial hypertrophic 2" EXACT [] synonym: "CMH2" EXACT [] xref: MESH:C566171 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110309 name: hypertrophic cardiomyopathy 3 alt_id: MIM:115196 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the alpha-tropomyosin gene (TPM1) on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8205619 "DO"] synonym: "cardiomyopathy familial hypertrophic 3" EXACT [] synonym: "CMH3" EXACT [] synonym: "TPM1-RELATED CONDITION" BROAD [] xref: MESH:C566170 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110310 name: hypertrophic cardiomyopathy 4 alt_id: MIM:115197 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the gene encoding cardiac myosin-binding protein C (MYBPC3) on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7493025 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7493026 "DO"] synonym: "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 4, SUSCEPTIBILITY TO" RELATED [] synonym: "CMH4" EXACT [] synonym: "FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 4" EXACT [] synonym: "MYBPC3-RELATED CONDITION" BROAD [] xref: MESH:C566169 xref: RDO:0014607 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110311 name: hypertrophic cardiomyopathy 21 def: "A familial hypertrophic cardiomyopathy associated that has_material_basis_in region 7p12.1-q21 variation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16651466 "DO"] synonym: "cardiomyopathy familial hypertrophic 21" EXACT [] synonym: "CMH21" EXACT [] xref: MIM:614676 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0110312 name: hypertrophic cardiomyopathy 6 alt_id: MIM:600858 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding the gamma-2 regulatory subunit of AMP-activated protein kinase (PRKAG2). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11586962 "DO"] synonym: "CMH6" EXACT [] synonym: "familial hypertrophic cardiomyopathy 6" EXACT [] xref: MESH:C563436 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110313 name: hypertrophic cardiomyopathy 7 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9241277 "DO"] synonym: "CMH7" EXACT [] synonym: "familial hypertrophic cardiomyopathy 7" EXACT [] xref: MIM:613690 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110314 name: hypertrophic cardiomyopathy 8 alt_id: MIM:608751 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in homozygous or heterozygous mutation in the MYL3 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8673105 "DO"] synonym: "cardiomyopathy, familial hypertrophic, 8" EXACT [] synonym: "cardiomyopathy hypertrophic mid-left ventricular chamber type 1" EXACT [] synonym: "CMH8" EXACT [] xref: MESH:C563866 xref: RDO:0013011 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110315 name: hypertrophic cardiomyopathy 9 alt_id: MIM:613765 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10462489 "DO"] synonym: "cardiomyopathy, familial hypertrophic, 9" EXACT [] synonym: "CMH9" EXACT [] xref: MESH:C566044 xref: RDO:0014519 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110316 name: hypertrophic cardiomyopathy 10 alt_id: MIM:608758 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYL2 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8673105 "DO"] synonym: "Cardiomyopathy, Hypertrophic, Mid-Left Ventricular Chamber Type, 2" EXACT [] synonym: "CMH10" EXACT [] synonym: "familial hypertrophic cardiomyopathy 10" EXACT [] synonym: "FAMILIAL ISOLATED RESTRICTIVE CARDIOMYOPATHY" EXACT [] xref: MESH:C563865 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110317 name: hypertrophic cardiomyopathy 11 alt_id: MIM:612098 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the ACTC1 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10330430 "DO"] synonym: "cardiomyopathy familial hypertrophic 11" EXACT [] synonym: "CMH11" EXACT [] xref: MESH:C567419 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110318 name: hypertrophic cardiomyopathy 12 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the CSRP3 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12642359 "DO"] synonym: "cardiomyopathy familial hypertrophic 12" EXACT [] synonym: "CMH12" EXACT [] synonym: "CSRP3-RELATED DISORDER" BROAD [] xref: MIM:612124 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110319 name: hypertrophic cardiomyopathy 13 alt_id: MIM:613243 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNC1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11385718 "DO"] synonym: "cardiomyopathy familial hypertrophic 13" EXACT [] synonym: "CMH13" EXACT [] xref: MESH:C567686 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110320 name: hypertrophic cardiomyopathy 14 alt_id: MIM:613251 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in mutation in the MYH6 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11815426 "DO"] synonym: "cardiomyopathy familial hypertrophic 14" EXACT [] synonym: "CMH14" EXACT [] xref: MESH:C567684 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110321 name: hypertrophic cardiomyopathy 15 alt_id: MIM:613255 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the vinculin gene (VCL) on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16712796 "DO"] synonym: "cardiomyopathy familial hypertrophic 15" EXACT [] synonym: "CMH15" EXACT [] synonym: "VCL-RELATED CONDITION" BROAD [] xref: MESH:C567681 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110322 name: hypertrophic cardiomyopathy 16 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYOZ2 gene on chromosome 4q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17347475 "DO"] synonym: "cardiomyopathy familial hypertrophic 16" EXACT [] synonym: "CMH16" EXACT [] synonym: "MYOZ2-RELATED CONDITION" EXACT [] xref: MIM:613838 xref: MONDO:0013455 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110323 name: hypertrophic cardiomyopathy 17 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17509612 "DO"] synonym: "cardiomyopathy familial hypertrophic 17" EXACT [] synonym: "CMH17" EXACT [] synonym: "JPH2-RELATED CONDITION" BROAD [] xref: MIM:613873 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110324 name: hypertrophic cardiomyopathy 18 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12705874 "DO"] synonym: "cardiomyopathy familial hypertrophic 18" EXACT [] synonym: "CMH18" EXACT [] xref: MIM:613874 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110326 name: hypertrophic cardiomyopathy 20 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the NEXN gene on chromosome 1p31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20970104 "DO"] synonym: "cardiomyopathy familial hypertrophic 20" EXACT [] synonym: "CMH20" EXACT [] synonym: "NEXN-RELATED CONDITION" BROAD [] xref: MIM:613876 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110327 name: hypertrophic cardiomyopathy 26 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25351925 "DO"] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR CARDIOMYOPATHY 15" RELATED [] synonym: "ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 15" RELATED [] synonym: "ARVC15" RELATED [] synonym: "ARVD15" RELATED [] synonym: "CARDIOMYOPATHY, DILATED, 1PP" RELATED [] synonym: "CMD1PP" RELATED [] synonym: "CMH26" EXACT [] synonym: "familial hypertrophic cardiomyopathy 26" EXACT [] synonym: "familial restrictive cardiomyopathy 5" RELATED [] synonym: "RCM5" RELATED [] xref: MIM:617047 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0110328 name: hypertrophic cardiomyopathy 25 def: "A familial hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the TCAP gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15582318 "DO"] synonym: "cardiomyopathy familial hypertrophic 25" EXACT [] synonym: "CMD1N" NARROW [] synonym: "CMH25" EXACT [] synonym: "dilated cardiomyopathy 1N" NARROW [] xref: MESH:C564388 xref: MIM:607487 xref: MONDO:0011843 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110329 name: Leber congenital amaurosis 6 alt_id: MIM:613826 def: "A Leber congenital amaurosis that is characterized by early photophobia, hypermetropia less than +7 diopters, and visual acuity in the range of 20/400 to count fingers and has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11283794 "DO"] synonym: "LCA6" EXACT [] xref: MESH:C565327 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110330 name: Leber congenital amaurosis 13 alt_id: MIM:612712 def: "A Leber congenital amaurosis thatis characterized by mild or absent hyperopia, transient improvement of visual acuity, and eventual macular atrophy with severe disease progression and has_material_basis_in mutation in the RDH12 gene on chromosome 14q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15258582 "DO"] synonym: "LCA13" EXACT [] synonym: "RETINITIS PIGMENTOSA 53" NARROW [] synonym: "RP53" NARROW [] xref: MESH:C567197 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110331 name: Leber congenital amaurosis 3 alt_id: MESH:C536998 alt_id: MESH:C565814 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the SPATA7 gene on chromosome 14q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19268277 "DO"] synonym: "amaurosis congenita of Leber, 3" EXACT [] synonym: "juvenile retinitis pigmentosa, autosomal recessive" NARROW [] synonym: "juvenile retinitis pigmentosa, SPATA7-related" NARROW [] synonym: "LCA3" EXACT [] synonym: "Leber Congenital Amaurosis Type 3" EXACT [] synonym: "retinitis pigmentosa 94, variable age at onset" NARROW [] synonym: "retinitis pigmentosa 94, variable age at onset, autosomal recessive" NARROW [] synonym: "RP94" NARROW [] synonym: "SPATA7-related disorder" BROAD [] xref: MIM:604232 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110332 name: Leber congenital amaurosis 4 def: "A Leber congenital amaurosis that is characterized by a relatively severe phenotype, with maculopathy and marked bone-spicule pigmentary retinopathy in most and keratoconus and cataract in a large subset and that has_material_basis_in mutation in the AIPL1 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10615133 "DO"] synonym: "AIPL1-RELATED CONDITION" BROAD [] synonym: "AIPL1-related disorders" BROAD [] synonym: "amaurosis congenita of Leber, 4" EXACT [] synonym: "CONE-ROD DYSTROPHY, AIPL1-RELATED" RELATED [] synonym: "juvenile retinitis pigmentosa, AIPL1-related" RELATED [] synonym: "LCA4" EXACT [] synonym: "Leber congenital amaurosis, type 4" EXACT [] synonym: "Retinitis pigmentosa, juvenile" RELATED [] xref: MESH:C536999 xref: MESH:C565778 xref: MIM:604393 xref: MONDO:0011458 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110333 name: Leber congenital amaurosis 7 def: "A Leber congenital amaurosis that has_material_basis_in mutation in the CRX gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9537410 "DO"] synonym: "LCA7" EXACT [] xref: MIM:613829 is_a: DOID:0050177 ! monogenic disease is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110334 name: osteogenesis imperfecta type 1 alt_id: MIM:166200 def: "An osteogenesis imperfecta that is characterized by bone fragility and blue sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2873381 "DO"] synonym: "OI1" EXACT [] synonym: "OI type I" EXACT [] synonym: "osteogenesis imperfecta, COL1A2-related" EXACT [] synonym: "osteogenesis imperfecta tarda" EXACT [] synonym: "osteogenesis imperfecta, type 1A" EXACT [] synonym: "osteogenesis imperfecta type 1, mild" EXACT [] synonym: "osteogenesis imperfecta, type 1, with dentinogenesis imperfecta" EXACT [] synonym: "osteogenesis imperfecta type I" EXACT [] synonym: "osteogenesis imperfecta, type I, with dentinogenesis imperfecta" EXACT [] synonym: "osteogenesis imperfecta with opalescent teeth" EXACT [] xref: GARD:8694 xref: MESH:C536041 xref: ORDO:216796 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:4154 ! dentinogenesis imperfecta [Term] id: DOID:0110335 name: osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones but without fractures alt_id: MIM:166230 def: "An osteogenesis imperfecta found in a single South African family. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7241530 "DO"] xref: MESH:C563487 is_a: DOID:11343 ! scleral disease is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:4154 ! dentinogenesis imperfecta [Term] id: DOID:0110336 name: osteogenesis imperfecta type 8 alt_id: MIM:610915 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the P3H1 gene on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17277775 "DO"] synonym: "OI8" EXACT [] synonym: "OI, TYPE VIII" EXACT [] synonym: "osteogenesis imperfecta type VIII" EXACT [] xref: GARD:10152 xref: MESH:C536049 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110337 name: osteogenesis imperfecta type 7 alt_id: MESH:C536043 alt_id: MIM:610682 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the CRTAP gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17055431 "DO"] synonym: "OI2B" EXACT [] synonym: "OI7" EXACT [] synonym: "OI, Type VII" EXACT [] synonym: "Osteogenesis imperfecta, perinatal lethal, autosomal recessive" EXACT [] synonym: "osteogenesis imperfecta, type 2B" EXACT [] synonym: "osteogenesis imperfecta, type IIB" EXACT [] synonym: "osteogenesis imperfecta, type VII" EXACT [] xref: GARD:8701 xref: MESH:C565200 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110338 name: osteogenesis imperfecta type 17 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SPARC gene on chromosome 5q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26027498 "DO"] synonym: "OI17" EXACT [] synonym: "osteogenesis imperfecta type XVII" EXACT [] xref: MIM:616507 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110339 name: osteogenesis imperfecta type 3 alt_id: MIM:259420 alt_id: OMIA:002126 alt_id: RDO:0001458 def: "An osteogenesis imperfecta that is characterized by progressive limb and spinal deformity and normal sclerae and has_material_basis_in mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2794057 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9099837 "DO"] synonym: "OI3" EXACT [] synonym: "OI, type III" EXACT [] synonym: "osteogenesis imperfecta type III" EXACT [] synonym: "osteogenesis imperfecta, type III/IV" BROAD [] synonym: "osteogenesis imperfecta, type III, COL1A1-related" NARROW [] synonym: "progressively deforming osteogenesis imperfecta with normal sclera" NARROW [] synonym: "progressively deforming osteogenesis imperfecta with normal sclerae" NARROW [] synonym: "SEVERE PROGRESSIVE DEFORMING RECESSIVE OSTEOGENESIS IMPERFECTA (TYPE III)" NARROW [] xref: GARD:8695 xref: ICD10CM:Q78.0 xref: MESH:C536044 xref: NCI:C99002 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110340 name: osteogenesis imperfecta type 4 alt_id: MIM:166220 alt_id: RDO:0001459 def: "An osteogenesis imperfecta that is characterized by bone fragility and normal sclerae and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2745420 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2897363 "DO", PMID:2745420, PMID:2897363] synonym: "OI4" EXACT [] synonym: "OI, type IV" EXACT [] synonym: "osteogenesis imperfecta, type III/IV" BROAD [] synonym: "osteogenesis imperfecta type IV" EXACT [] synonym: "osteogenesis imperfecta with normal sclera" EXACT [] synonym: "osteogenesis imperfecta with normal sclerae" EXACT [] xref: GARD:8696 xref: MESH:C536045 xref: NCI:C98576 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110341 name: osteogenesis imperfecta type 2 alt_id: MIM:166210 def: "An osteogenesis imperfecta that is characterized by bone fragility and perinatal lethality and has_material_basis_in dominantly inherited mutations in the COL1A1 gene on chromosome 17q21.33 or the COL1A2 gene on chromosome 7q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3722184 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6304100 "DO"] synonym: "OI2" EXACT [] synonym: "OIC" EXACT [] synonym: "OI type 2" EXACT [] synonym: "OI type II" EXACT [] synonym: "osteogenesis imperfecta congenita" EXACT [] synonym: "osteogenesis imperfecta congenita, perinatal lethal form" EXACT [] synonym: "OSTEOGENESIS IMPERFECTA, RECESSIVE PERINATAL LETHAL" NARROW [] synonym: "Osteogenesis Imperfecta, Type 2A" EXACT [] synonym: "osteogenesis imperfecta type 2, thin-bone" EXACT [] synonym: "osteogenesis imperfecta, type II" EXACT [] synonym: "osteogenesis imperfecta, type IIA" EXACT [] synonym: "perinatal lethal osteogenesis imperfecta congenita" EXACT [] synonym: "Vrolik disease" EXACT [] synonym: "Vrolik type of osteogenesis imperfecta" EXACT [] xref: GARD:10142 xref: MESH:C536042 xref: NCI:C99001 xref: ORDO:216804 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110342 name: osteogenesis imperfecta type 13 alt_id: RDO:9000624 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the BMP1 gene on chromosome 8p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22052668 "DO"] synonym: "BMP1-RELATED CONDITION" EXACT [] synonym: "OI13" EXACT [] synonym: "OI, TYPE XIII" EXACT [] synonym: "osteogenesis imperfecta type XIII" EXACT [] xref: MIM:614856 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110343 name: osteogenesis imperfecta type 14 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the TMEM38B gene on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23054245 "DO"] synonym: "OI14" EXACT [] synonym: "OI, type XIV" EXACT [] synonym: "osteogenesis imperfecta type XIV" EXACT [] xref: MIM:615066 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110344 name: osteogenesis imperfecta type 5 alt_id: MIM:610967 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the IFITM5 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22863190 "DO"] synonym: "OI5" EXACT [] synonym: "OI, TYPE V" EXACT [] synonym: "osteogenesis imperfecta type V" EXACT [] xref: GARD:8699 xref: MESH:C567042 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110345 name: osteogenesis imperfecta type 16 def: "An osteogenesis imperfecta that has_material_basis_in contiguous gene deletion on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24079343 "DO"] synonym: "chromosome 11p11.2 deletion syndrome 91.3-KB" EXACT [] synonym: "OI16" EXACT [] synonym: "osteogenesis imperfecta type XVI" EXACT [] xref: MIM:616229 is_a: DOID:12347 ! osteogenesis imperfecta created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110346 name: osteogenesis imperfecta type 10 alt_id: OMIA:001483 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINH gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20188343 "DO"] synonym: "OI10" EXACT [] synonym: "OI, type X" EXACT [] synonym: "osteogenesis imperfecta type X" EXACT [] xref: MIM:613848 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110347 name: osteogenesis imperfecta type 15 alt_id: RDO:9000869 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the WNT1 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23499309 "DO"] synonym: "OI15" EXACT [] synonym: "OI, TYPE XV" EXACT [] synonym: "osteogenesis imperfecta type XV" EXACT [] synonym: "WNT1-RELATED CONDITION" BROAD [] xref: MIM:615220 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110348 name: osteogenesis imperfecta type 12 alt_id: RDO:9000623 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SP7 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20579626 "DO"] synonym: "OI12" EXACT [] synonym: "OI, TYPE XII" EXACT [] synonym: "Osteogenesis Imperfecta, Type XII" EXACT [] xref: MIM:613849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110349 name: osteogenesis imperfecta type 9 alt_id: MIM:259440 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the PPIB gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19781681 "DO"] synonym: "OI9" EXACT [] synonym: "OI, Type IX" EXACT [] synonym: "Osteogenesis Imperfecta, Sillence Type II-III, Without Abnormality of Type I Collagen" EXACT [] synonym: "osteogenesis imperfecta type IX" EXACT [] synonym: "PPIB-RELATED CONDITION" EXACT [] xref: GARD:10619 xref: MESH:C564921 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110350 name: osteogenesis imperfecta type 6 alt_id: MIM:613982 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the SERPINF1 gene on chromosome 17p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21353196 "DO"] synonym: "OI6" EXACT [] synonym: "OI, type VI" EXACT [] synonym: "osteogenesis imperfecta, type VI" EXACT [] xref: GARD:8700 xref: MESH:C536047 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110351 name: osteogenesis imperfecta type 11 alt_id: RDO:9000622 def: "An osteogenesis imperfecta that has_material_basis_in mutation in the FKBP10 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20362275 "DO"] synonym: "FKBP10-RELATED CONDITION" BROAD [] synonym: "OI11" EXACT [] synonym: "OI, TYPE XI" EXACT [] synonym: "osteogenesis imperfecta type XI" EXACT [] xref: MIM:610968 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0110352 name: retinitis pigmentosa 59 def: "A retinitis pigmentosa that has_material_basis_in mutation in the DHDDS gene on chromosome 1p36.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21295283 "DO"] synonym: "CDG1BB" RELATED [] synonym: "congenital disorder of glycosylation type 1BB" RELATED [] synonym: "congenital disorder of glycosylation type IBB" RELATED [] synonym: "DHDDS-RELATED CONDITION" BROAD [] synonym: "RETINITIS PIGMENTOSA TYPE 59" EXACT [] synonym: "RP59" EXACT [] xref: MIM:613861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110353 name: retinitis pigmentosa 20 alt_id: MIM:613794 alt_id: RDO:0014993 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RPE65 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326941 "DO"] synonym: "RP20" EXACT [] synonym: "RPE65-RELATED DISORDER" BROAD [] xref: MESH:C566718 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110354 name: retinitis pigmentosa 19 alt_id: MIM:601718 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ABCA4 gene on chromosome 1p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9425888 "DO"] synonym: "RP19" EXACT [] xref: MESH:C566637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110355 name: retinitis pigmentosa 32 alt_id: MIM:609913 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 1p21.3-p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16189710 "DO"] synonym: "RP32" EXACT [] xref: MESH:C563689 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110356 name: retinitis pigmentosa 18 alt_id: MIM:601414 alt_id: RDO:0012611 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF3 gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11773002 "DO"] synonym: "RP18" EXACT [] xref: MESH:C563320 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110357 name: retinitis pigmentosa 35 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SEMA4A gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16199541 "DO"] synonym: "RP35" EXACT [] xref: MESH:C565206 xref: MIM:610282 xref: MONDO:0012463 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110358 name: retinitis pigmentosa 12 alt_id: MIM:600105 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CRB1 gene on chromosome 1q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10508521 "DO"] synonym: "retinitis pigmentosa with or without paraarteriolar preservation of retinal pigment epithelium" EXACT [] synonym: "RP12" EXACT [] synonym: "RP WITH OR WITHOUT PPRPE" EXACT [] synonym: "RP WITH OR WITHOUT PRESERVED PARAARTERIOLE RETINAL PIGMENT EPITHELIUM" EXACT [] xref: MESH:C563999 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110359 name: retinitis pigmentosa 67 def: "A retinitis pigmentosa that has_material_basis_in mutation in the NEK2 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24043777 "DO"] synonym: "RP67" EXACT [] xref: MIM:615565 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110360 name: retinitis pigmentosa 39 def: "A retinitis pigmentosa that has_material_basis_in mutation in the USH2A gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12427073 "DO"] synonym: "RP39" EXACT [] synonym: "USH2A-RELATED CONDITION" BROAD [] synonym: "USH2A-RELATED DISORDER" BROAD [] xref: MIM:613809 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110361 name: retinitis pigmentosa 75 def: "A retinitis pigmentosa that has_material_basis_in mutation in the AGBL5 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26720455 "DO"] synonym: "RP75" EXACT [] xref: MIM:617023 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110362 name: retinitis pigmentosa 58 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF513 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20227676 "DO"] synonym: "RP58" EXACT [] synonym: "ZNF513-RELATED CONDITION" EXACT [] xref: ICD10CM:H35.5 xref: MIM:613617 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110363 name: retinitis pigmentosa 71 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IFT172 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25168386 "DO"] synonym: "RP71" EXACT [] xref: MIM:616394 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110364 name: retinitis pigmentosa 54 alt_id: OMIA:001575 def: "A retinitis pigmentosa that has_material_basis_in mutation in the C2ORF71 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20398886 "DO"] synonym: "CONE-ROD DYSTROPHY 23" RELATED [] synonym: "PCARE-RELATED CONDITION" BROAD [] synonym: "Rod-cone dysplasia 4" EXACT [] synonym: "RP54" EXACT [] xref: MIM:613428 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110365 name: retinitis pigmentosa 28 def: "A retinitis pigmentosa that has_material_basis_in mutation in the FAM161A gene on chromosome 2p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20705278 "DO"] synonym: "RETINITIS PIGMENTOSA TYPE 28" EXACT [] synonym: "RP28" EXACT [] xref: MIM:606068 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110366 name: retinitis pigmentosa 33 alt_id: MIM:610359 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SNRNP200 gene on chromosome 2q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19878916 "DO"] synonym: "RP33" EXACT [] xref: MESH:C563676 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110367 name: retinitis pigmentosa 38 alt_id: OMIA:001932 alt_id: RDO:9000496 def: "A retinitis pigmentosa that has_material_basis_in mutation in the MERTK gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11062461 "DO"] synonym: "progressive retinal atrophy, MERTK-related" EXACT [] synonym: "ROD-CONE DYSTROPHY, CHILDHOOD-ONSET" EXACT [] synonym: "RP38" EXACT [] xref: MIM:613862 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110368 name: retinitis pigmentosa 26 alt_id: MIM:608380 alt_id: RDO:0013275 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CERKL gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14681825 "DO"] synonym: "RETINITIS PIGMENTOSA TYPE 26" EXACT [] synonym: "RP26" EXACT [] xref: MESH:C564249 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110369 name: retinitis pigmentosa 47 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SAG gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9565049 "DO"] synonym: "RP47" EXACT [] xref: MIM:613758 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110370 name: retinitis pigmentosa 55 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ARL6 gene on chromosome 3q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19956407 "DO"] synonym: "RP55" EXACT [] xref: MIM:613575 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110371 name: retinitis pigmentosa 56 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IMPG2 gene on chromosome 3q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20673862 "DO"] synonym: "RP56" EXACT [] xref: MIM:613581 xref: MONDO:0013314 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110372 name: retinitis pigmentosa 4 alt_id: MIM:613731 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RHO gene on chromosome 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2137202 "DO"] synonym: "retinitis pigmentosa 4, autosomal recessive" NARROW [] synonym: "rhodopsin-related retinitis pigmentosa" EXACT [] synonym: "RP4" EXACT [] xref: MESH:C566706 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110373 name: retinitis pigmentosa 61 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CLRN1 gene on chromosome 3q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21310491 "DO"] synonym: "RP61" EXACT [] xref: MIM:614180 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110374 name: retinitis pigmentosa 68 def: "A retinitis pigmentosa that has_material_basis_in mutation in the SLC7A14 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24670872 "DO"] synonym: "RP68" EXACT [] xref: MIM:615725 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110375 name: retinitis pigmentosa 40 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6B gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8394174 "DO"] synonym: "PDE6B-RELATED CONDITION" BROAD [] synonym: "PDE6B-RELATED DISORDER" BROAD [] synonym: "Rod-cone dysplasia 1" EXACT [] synonym: "Rod-cone dysplasia 1a" EXACT [] synonym: "RP40" EXACT [] xref: MIM:613801 xref: MONDO:0013429 xref: OMIA:000882 xref: OMIA:001669 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110376 name: retinitis pigmentosa 41 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PROM1 gene on chromosome 4p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10587575 "DO"] synonym: "Retinal Degeneration, Autosomal Recessive, Prominin-Related" EXACT [] synonym: "RP41" EXACT [] xref: MESH:C567422 xref: MIM:612095 xref: MONDO:0012796 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110377 name: retinitis pigmentosa 49 alt_id: OMIA:001977 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CNGA1 gene on chromosome 4p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7479749 "DO"] synonym: "progressive retinal atrophy, CNGA1-related" EXACT [] synonym: "progressive retinal atrophy, due to CNGA1" EXACT [] synonym: "RP49" EXACT [] xref: MIM:613756 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110378 name: retinitis pigmentosa 29 alt_id: MIM:612165 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 4q32-q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11381043 "DO"] synonym: "RP29" EXACT [] xref: MESH:C567403 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110379 name: retinitis pigmentosa 43 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6A gene on chromosome 5q31-q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7493036 "DO"] synonym: "Rod-cone dysplasia 3" EXACT [] synonym: "RP43" EXACT [] xref: MIM:613810 xref: MONDO:0013437 xref: OMIA:001314 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110380 name: retinitis pigmentosa 62 def: "A retinitis pigmentosa that has_material_basis_in mutation in the MAK gene on chromosome 6p24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21825139 "DO"] synonym: "RP62" EXACT [] xref: MIM:614181 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110381 name: retinitis pigmentosa 14 alt_id: MIM:600132 alt_id: RDO:0013099 def: "A retinitis pigmentosa that has_material_basis_in mutation in the TULP1 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9462751 "DO"] synonym: "Retinitis Pigmentosa, Juvenile, TULP1-Related" EXACT [] synonym: "RP14" EXACT [] xref: MESH:C563992 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110382 name: retinitis pigmentosa 48 def: "A retinitis pigmentosa that has_material_basis_in mutation in the GUCA1B gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15452722 "DO"] synonym: "RP48" EXACT [] xref: MIM:613827 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110383 name: retinitis pigmentosa 7 alt_id: MESH:C564284 alt_id: MESH:C567263 alt_id: MESH:C567264 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPH2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1749427 "DO"] synonym: "LCA18" NARROW [] synonym: "Leber congenital amaurosis 18" NARROW [] synonym: "retinitis pigmentosa 7, digenic" EXACT [] synonym: "retinitis pigmentosa 7 with Bull's-eye maculopathy" EXACT [] synonym: "RP7" EXACT [] xref: MIM:608133 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080578 ! digenic disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:14791 ! Leber congenital amaurosis [Term] id: DOID:0110384 name: retinitis pigmentosa 25 alt_id: MIM:602772 def: "A retinitis pigmentosa that has_material_basis_in mutation in the EYS gene on chromosome 6q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18836446 "DO"] synonym: "EYS-RELATED CONDITION" EXACT [] synonym: "retinitis pigmentosa type 25" EXACT [] synonym: "RP25" EXACT [] xref: MESH:C566425 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110385 name: retinitis pigmentosa 63 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 6q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22083234 "DO"] synonym: "RP63" EXACT [] xref: MIM:614494 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:0110386 name: retinitis pigmentosa 42 alt_id: MIM:612943 def: "A retinitis pigmentosa that has_material_basis_in mutation in the KLHL7 gene on chromosome 7p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19520207 "DO"] synonym: "KLHL7-RELATED CONDITION" BROAD [] synonym: "RP42" EXACT [] xref: MESH:C567854 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110387 name: retinitis pigmentosa 9 alt_id: MIM:180104 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP9 gene on chromosome 7p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032732 "DO"] synonym: "RP9" EXACT [] xref: MESH:C566716 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110388 name: retinitis pigmentosa 10 alt_id: MIM:180105 alt_id: RDO:0014990 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IMPDH1 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11875050 "DO"] synonym: "IMPDH1-RELATED CONDITION" BROAD [] synonym: "RP10" EXACT [] xref: MESH:C566715 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110389 name: retinitis pigmentosa 73 def: "A retinitis pigmentosa that has_material_basis_in mutation in the HGSNAT gene on chromosome 8p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25859010 "DO"] synonym: "RP73" EXACT [] xref: MIM:616544 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110390 name: retinitis pigmentosa 1 alt_id: MIM:180100 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP1 gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10391211 "DO"] synonym: "RP1" EXACT [] synonym: "RP1-RELATED RETINAL DYSTROPHY" EXACT [] xref: MESH:C538365 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110391 name: retinitis pigmentosa 31 alt_id: MIM:609923 def: "A retinitis pigmentosa that has_material_basis_in mutation in the TOPORS gene on chromosome 9p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17924349 "DO"] synonym: "RP31" EXACT [] synonym: "TOPORS-RELATED CONDITION" EXACT [] xref: MESH:C563685 xref: RDO:0012878 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110392 name: retinitis pigmentosa 70 alt_id: RDO:9001537 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF4 gene on chromosome 9q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24419317 "DO"] synonym: "RP70" EXACT [] xref: MIM:615922 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110393 name: retinitis pigmentosa 66 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RBP3 gene on chromosome 10q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19074801 "DO"] synonym: "RP66" EXACT [] xref: MIM:615233 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110394 name: retinitis pigmentosa 44 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RGR gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10581022 "DO"] synonym: "RP44" EXACT [] xref: MIM:613769 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110395 name: retinitis pigmentosa 72 def: "A retinitis pigmentosa that has_material_basis_in mutation in the ZNF408 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25882705 "DO"] synonym: "RP72" EXACT [] xref: MIM:616469 xref: MONDO:0014653 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110396 name: retinitis pigmentosa 50 alt_id: MIM:613194 def: "A retinitis pigmentosa that has_material_basis_in mutation in the BEST1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19853238 "DO"] synonym: "concentric retinitis pigmentosa" NARROW [] synonym: "RP50" EXACT [] xref: MESH:C567712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110397 name: retinitis pigmentosa 27 alt_id: MIM:613750 def: "A retinitis pigmentosa that has_material_basis_in mutation in the NRL gene on chromosome 14q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10192380 "DO"] synonym: "autosomal recessive retinal degeneration, clumped pigment type" NARROW [] synonym: "RP27" EXACT [] xref: MESH:C563526 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110398 name: retinitis pigmentosa 51 def: "A retinitis pigmentosa that has_material_basis_in mutation in the TTC8 gene on chromosome 14q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20451172 "DO"] synonym: "RP51" EXACT [] synonym: "TTC8-RELATED CONDITION" BROAD [] xref: MIM:613464 xref: MONDO:0013274 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110399 name: retinitis pigmentosa 37 def: "A retinitis pigmentosa that has_material_basis_in mutation in the NR2E3 gene on chromosome 15q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564971 "DO"] synonym: "NR2E3-RELATED CONDITION" BROAD [] synonym: "NR2E3-RELATED DISORDER" BROAD [] synonym: "NR2E3-RELATED DISORDERS" BROAD [] synonym: "RP37" EXACT [] xref: MESH:C567005 xref: MIM:611131 xref: MONDO:0012625 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110400 name: retinitis pigmentosa 22 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region 16p12.3-p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9545639 "DO"] synonym: "RP22" EXACT [] xref: MIM:602594 xref: RDO:0016050 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110401 name: retinitis pigmentosa 74 def: "A retinitis pigmentosa that has_material_basis_in mutation in the BBS2 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25541840 "DO"] synonym: "BBS2-RELATED CONDITION" BROAD [] synonym: "BBS2-RELATED DISORDER" BROAD [] synonym: "BBS2-RELATED DISORDERS" BROAD [] synonym: "BCL11B-RELATED CONDITION" BROAD [] synonym: "RP74" EXACT [] xref: MIM:616562 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110402 name: retinitis pigmentosa 45 def: "A retinitis pigmentosa that has_material_basis_in mutation in the CNGB1 gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11379879 "DO"] synonym: "RP45" EXACT [] xref: MIM:613767 xref: MONDO:0013413 xref: OMIA:000830 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110403 name: retinitis pigmentosa 13 alt_id: MIM:600059 def: "A retinitis pigmentosa that has_material_basis_in mutations in the PRPF8 gene on chromosome 17p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11468273 "DO"] synonym: "RP13" EXACT [] xref: MESH:C564008 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110404 name: retinitis pigmentosa 17 alt_id: MIM:600852 def: "A retinitis pigmentosa characterized by relatively mild disease, with decreased visual acuity, visual field constriction, nyctalopia, and slow progression that has_material_basis_in duplication or triplication in the chromosome 17q22-q23 region that results in disruption of topologically associated domains (TADs) and increased retinal expression of GDPD1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33022222/ "DO"] synonym: "RP17" EXACT [] xref: MESH:C563437 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110405 name: retinitis pigmentosa 36 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRCD gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16938425 "DO"] synonym: "RP36" EXACT [] xref: MESH:C566431 xref: MIM:610599 xref: OMIA:001298 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110406 name: retinitis pigmentosa 30 alt_id: MIM:607921 def: "A retinitis pigmentosa that has_material_basis_in mutation in the FSCN2 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14609921 "DO"] synonym: "MACULAR DEGENERATION" NARROW [] synonym: "RP30" EXACT [] xref: MESH:C564310 xref: RDO:0013319 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110407 name: retinitis pigmentosa 57 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PDE6G gene on chromosome 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20655036 "DO"] synonym: "PDE6G retinitis pigmentosa" EXACT [] synonym: "RP57" EXACT [] xref: MIM:613582 xref: MONDO:0013315 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110408 name: retinitis pigmentosa 11 alt_id: MIM:600138 alt_id: RDO:0013098 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF31 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11545739 "DO"] synonym: "RP11" EXACT [] xref: MESH:C563991 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110409 name: retinitis pigmentosa 46 alt_id: MIM:612572 def: "A retinitis pigmentosa that has_material_basis_in mutation in the IDH3B gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18806796 "DO"] synonym: "autosomal recessive retinitis pigmentosa, IDH3B-related" EXACT [] synonym: "RP46" EXACT [] xref: MESH:C567249 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110410 name: retinitis pigmentosa 69 def: "A retinitis pigmentosa that has_material_basis_in mutation in the KIZ gene on chromosome 20p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24680887 "DO"] synonym: "RP69" EXACT [] xref: MIM:615780 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110411 name: retinitis pigmentosa 60 def: "A retinitis pigmentosa that has_material_basis_in mutation in the PRPF6 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21549338 "DO"] synonym: "RP60" EXACT [] xref: MIM:613983 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110412 name: retinitis pigmentosa 23 alt_id: RDO:0016049 def: "A retinitis pigmentosa that has_material_basis_in mutation in the OFD1 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22619378 "DO"] synonym: "RP23" EXACT [] xref: MIM:300424 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110413 name: retinitis pigmentosa 6 alt_id: MIM:312612 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xp21.3-p21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2300556 "DO"] synonym: "Retinitis Pigmentosa, X-Linked Recessive, 6" EXACT [] synonym: "RP6" EXACT [] xref: MESH:C564065 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110414 name: retinitis pigmentosa 3 alt_id: MIM:300029 alt_id: OMIA:000831 alt_id: OMIA:001518 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RPGR gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8673101 "DO"] synonym: "choroidoretinal degeneration with retinal reflex in heterozygous women" EXACT [] synonym: "Progressive retinal atrophy, X-linked, type 1" EXACT [] synonym: "Progressive retinal atrophy, X-linked, type 2" EXACT [] synonym: "retinitis pigmentosa 15" EXACT [] synonym: "RP15" EXACT [] synonym: "RP3" EXACT [] synonym: "X-linked cone-rod degeneration" EXACT [] xref: GARD:10381 xref: MESH:C564520 xref: MONDO:0010227 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110415 name: retinitis pigmentosa 2 alt_id: MIM:312600 def: "A retinitis pigmentosa that has_material_basis_in mutation in the RP2 gene on chromosome Xp11.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9697692 "DO"] synonym: "RP2" EXACT [] xref: MESH:C567523 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110416 name: retinitis pigmentosa 24 alt_id: RDO:0016048 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq26-q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10690843 "DO"] synonym: "RP24" EXACT [] xref: MIM:300155 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110417 name: retinitis pigmentosa 34 alt_id: MIM:300605 def: "A retinitis pigmentosa that has_material_basis_in variation in the chromosome region Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16740911 "DO"] synonym: "RP34" EXACT [] xref: MESH:C564475 xref: RDO:0013423 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110418 name: retinitis pigmentosa Y-linked alt_id: MIM:400004 def: "A retinitis pigmentosa that has_material_basis_in variation on the Y chromosome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7493160 "DO"] synonym: "RPY" EXACT [] xref: MESH:C564035 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110419 name: retinitis pigmentosa with or without situs inversus def: "A retinitis pigmentosa that has_material_basis_in mutation in the ARL2BP gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23849777 "DO"] synonym: "ARL2BP-RELATED CONDITION" EXACT [] synonym: "retinitis pigmentosa 82" EXACT [] synonym: "retinitis pigmentosa 82 with or without situs inversus" EXACT [] synonym: "retinitis pigmentosa without situs inversus" NARROW [] synonym: "RP82" EXACT [] xref: MIM:615434 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:758 ! situs inversus [Term] id: DOID:0110420 name: dominant pericentral pigmentary retinopathy alt_id: MIM:180210 def: "A retinitis pigmentosa that is characterized pigmentary retinal degeneration with onset in the teens leading to blindness in the sixth ans seventh decades of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3618160 "DO"] xref: MESH:C566713 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:8499 ! night blindness is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:0110421 name: late-adult onset retinitis pigmentosa alt_id: MIM:268025 alt_id: RDO:0013665 def: "A retinitis pigmentosa that is characterized by onset of symptoms in the fifth or sixth decade of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1424244 "DO"] synonym: "senile retinitis pigmentosa" EXACT [] xref: MESH:C564840 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:0110422 name: autosomal recessive pericentral pigmentary retinopathy alt_id: MIM:268060 def: "A retinitis pigmentosa that is characterized autosomal recessive inheritance of pigmentary retinal degeneration with onset in the infancy but slower rates of progression than other forms of retinopathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3189470 "DO"] synonym: "pericentral retinitis pigmentosa" EXACT [] xref: MESH:C564838 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0110423 name: dilated cardiomyopathy 1C alt_id: MIM:601493 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LDB3 gene on chromosome 10q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14662268 "DO"] synonym: "CMD1C" EXACT [] synonym: "CMDC1" EXACT [] synonym: "CMH24" RELATED [] synonym: "dilated cardiomyopathy 1C with or without left ventricular noncompaction" EXACT [] synonym: "familial hypertrophic cardiomyopathy 24" RELATED [] synonym: "LDB3-RELATED CONDITION" BROAD [] synonym: "left ventricular noncompaction 3" RELATED [] synonym: "LVNC3" RELATED [] xref: MESH:C563307 xref: NCI:C170436 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110424 name: dilated cardiomyopathy 1CC alt_id: MIM:613122 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the NEXN gene on chromosome 1p31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19881492 "DO"] synonym: "CMD1CC" EXACT [] synonym: "NEXN-RELATED CONDITION" BROAD [] xref: MESH:C567733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110425 name: dilated cardiomyopathy 1A def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LMNA gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10580070 "DO"] synonym: "CDCD1" EXACT [] synonym: "CMD1A" EXACT [] synonym: "dilated cardiomyopathy, LMNA" EXACT [] synonym: "dilated cardiomyopathy with conduction defect 1" EXACT [] synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT [] xref: MIM:115200 xref: NCI:C165596 xref: ORDO:300751 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:9006138 ! Laminopathies created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0110426 name: dilated cardiomyopathy 1D alt_id: MIM:601494 alt_id: RDO:0012603 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNT2 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11106718 "DO"] synonym: "CMD1D" EXACT [] synonym: "LEFT VENTRICULAR NONCOMPACTION 6" NARROW [] synonym: "LVNC6" NARROW [] xref: MESH:C563306 xref: NCI:C198599 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110427 name: dilated cardiomyopathy 1V alt_id: MIM:613697 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN2 gene on chromosome 1q31-q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17186461 "DO"] synonym: "CMD1V" EXACT [] xref: MESH:C566856 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110428 name: dilated cardiomyopathy 1AA alt_id: MIM:612158 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTN2 gene on chromosome 1q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14567970 "DO"] synonym: "CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION" EXACT [] synonym: "CMD1AA" EXACT [] synonym: "CMH23" NARROW [] synonym: "familial hypertrophic cardiomyopathy 23" NARROW [] synonym: "familial hypertrophic cardiomyopathy 23 with or without ventricular noncompaction" NARROW [] xref: MESH:C567407 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110429 name: dilated cardiomyopathy 1H alt_id: MIM:604288 def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 2q14-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10486326 "DO"] synonym: "CMD1H" EXACT [] synonym: "dilated cardiomyopathy with conduction defect" EXACT [] xref: MESH:C536277 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110430 name: dilated cardiomyopathy 1G alt_id: MIM:604145 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TTN gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11788824 "DO"] synonym: "CMD1G" EXACT [] xref: MESH:C565824 xref: NCI:C182078 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110431 name: dilated cardiomyopathy 1I alt_id: MIM:604765 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the DES gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10430757 "DO"] synonym: "CMD1I" EXACT [] xref: MESH:C565752 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110432 name: dilated cardiomyopathy 1NN def: "A dilated cardiomyopathy that has_material_basis_in mutation in the RAF1 gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24777450 "DO"] synonym: "CMD1NN" EXACT [] xref: MIM:615916 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110433 name: dilated cardiomyopathy 1E alt_id: MIM:601154 alt_id: RDO:0012654 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the SCN5A gene on chromosome 3p22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15466643 "DO"] synonym: "Cardiomyopathy, Dilated, with Conduction Disorder and Arrhythmia" EXACT [] synonym: "CDCD2" EXACT [] synonym: "CMD1E" EXACT [] synonym: "dilated cardiomyopathy with conduction defect 2" EXACT [] xref: MESH:C563384 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110434 name: dilated cardiomyopathy 1Z def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNC1 gene on chromosome 3p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15542288 "DO"] synonym: "CMD1Z" EXACT [] xref: MESH:C567506 xref: MIM:611879 xref: MONDO:0012745 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110435 name: dilated cardiomyopathy 1GG def: "A dilated cardiomyopathy that has_material_basis_in mutation in the SDHA gene on chromosome 5p15.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20551992 "DO"] synonym: "CMD1GG" EXACT [] xref: MIM:613642 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0110436 name: dilated cardiomyopathy 1L alt_id: MIM:606685 def: "A dilated cardiomyopathy that has_material_basis_in mutations in the SGCD gene on chromosome 5q33.2-q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10974018 "DO"] synonym: "CMD1L" EXACT [] xref: MESH:C564679 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110437 name: dilated cardiomyopathy 1K alt_id: MIM:605582 def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 6q12-q16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11085912 "DO"] synonym: "CMD1K" EXACT [] xref: MESH:C565320 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110438 name: dilated cardiomyopathy 1JJ def: "A dilated cardiomyopathy that has_material_basis_in mutation in the LAMA4 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17646580 "DO"] synonym: "CMD1JJ" EXACT [] synonym: "LAMA4-RELATED CONDITION" EXACT [] xref: MIM:615235 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110439 name: dilated cardiomyopathy 1P alt_id: MIM:609909 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PLN gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12610310 "DO"] synonym: "CMD1P" EXACT [] xref: MESH:C563690 xref: NCI:C173625 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110440 name: dilated cardiomyopathy 1J alt_id: MIM:605362 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the EYA4 gene on chromosome 6q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15735644 "DO"] synonym: "CMD1J" EXACT [] synonym: "dilated cardiomyopathy with sensorineural hearing loss, autosomal dominant" EXACT [] synonym: "EYA4-related disorder" BROAD [] synonym: "EYA4-related disorders" BROAD [] synonym: "neurosensory deafness with dilated cardiomyopathy" EXACT [] synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT [] synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [] synonym: "sensorineural hearing loss with dilated cardiomyopathy" EXACT [] xref: MESH:C565337 xref: ORDO:217622 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110441 name: dilated cardiomyopathy 2B def: "A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21965549 "DO"] synonym: "CMD2B" EXACT [] xref: MIM:614672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110442 name: dilated cardiomyopathy 1Q alt_id: MIM:609915 def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 7q22.3-q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16228230 "DO"] synonym: "CMD1Q" EXACT [] xref: MESH:C563688 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110443 name: dilated cardiomyopathy 1B alt_id: MIM:600884 def: "A dilated cardiomyopathy that has_material_basis_in variation in the chromosome region 9q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7573045 "DO"] synonym: "CMD1B" EXACT [] synonym: "CMPD1" EXACT [] synonym: "familial dilated cardiomyopathy 1" EXACT [] synonym: "familial hypokinetic dilated cardiomyopathy" EXACT [] synonym: "FDC1" EXACT [] xref: MESH:C536231 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110444 name: dilated cardiomyopathy 1X alt_id: MIM:611615 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the FKTN gene on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17036286 "DO"] synonym: "CMD1X" EXACT [] synonym: "dilated cardiomyopathy, with mild or no proximal muscle weakness" EXACT [] xref: MESH:C566907 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110445 name: dilated cardiomyopathy 1KK def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYPN gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18006477 "DO"] synonym: "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 22" RELATED [] synonym: "CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 4" RELATED [] synonym: "CMD1KK" EXACT [] synonym: "CMH22" RELATED [] synonym: "MYPN-RELATED CONDITION" BROAD [] synonym: "RCM4" RELATED [] xref: MIM:615248 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110446 name: dilated cardiomyopathy 1W def: "A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11815424 "DO"] synonym: "CMD1W" EXACT [] synonym: "VCL-RELATED CONDITION" BROAD [] xref: MESH:C566954 xref: MIM:611407 xref: MONDO:0012667 xref: NCI:C187983 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110447 name: dilated cardiomyopathy 1DD alt_id: MIM:613172 alt_id: RDO:0015714 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the RBM20 gene on chromosome 10q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19712804 "DO"] synonym: "CMD1DD" EXACT [] synonym: "RBM20-RELATED CONDITION" EXACT [] xref: MESH:C567725 xref: NCI:C174435 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110448 name: dilated cardiomyopathy 1HH alt_id: RDO:9000821 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the BAG3 gene on chromosome 10q26.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21353195 "DO"] synonym: "BAG3-RELATED CONDITION" BROAD [] synonym: "CMD1HH" EXACT [] xref: MIM:613881 xref: NCI:C192082 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110449 name: dilated cardiomyopathy 1M alt_id: MIM:607482 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the CSRP3 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12507422 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14567970 "DO"] synonym: "CMD1M" EXACT [] synonym: "CSRP3-RELATED DISORDER" BROAD [] xref: MESH:C564390 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110450 name: dilated cardiomyopathy 1II def: "A dilated cardiomyopathy that has_material_basis_in mutation in the CRYAB gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16483541 "DO"] synonym: "CMD1II" EXACT [] xref: MIM:615184 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110451 name: dilated cardiomyopathy 1O alt_id: MIM:608569 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ABCC9 gene on chromosome 12p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15034580 "DO"] synonym: "CMD1O" EXACT [] synonym: "dilated cardiomyopathy with ventricular tachycardia" EXACT [] xref: MESH:C563906 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110452 name: dilated cardiomyopathy 1T def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TMPO gene on chromosome 12q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16247757 "DO"] synonym: "CMD1T" EXACT [] xref: MESH:C566052 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110453 name: dilated cardiomyopathy 1EE alt_id: MIM:613252 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15998695 "DO"] synonym: "CMD1EE" EXACT [] xref: MESH:C567683 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110454 name: dilated cardiomyopathy 1S alt_id: MIM:613426 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11106718 "DO"] synonym: "biventricular noncompaction cardiomyopathy" NARROW [] synonym: "CMD1S" EXACT [] synonym: "left ventricular noncompaction 5" RELATED [] synonym: "LVNC5" RELATED [] xref: ICD10CM:I42.0 xref: MESH:C563538 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060480 ! left ventricular noncompaction is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110455 name: dilated cardiomyopathy 1U alt_id: MIM:613694 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the PSEN1 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17186461 "DO"] synonym: "CMD1U" EXACT [] xref: MESH:C566296 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110456 name: dilated cardiomyopathy 1R def: "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17611253 "DO"] synonym: "CMD1R" EXACT [] xref: MIM:613424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:0110457 name: dilated cardiomyopathy 1Y alt_id: MIM:611878 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TPM1 gene on chromosome 15q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11273725 "DO"] synonym: "CMD1Y" EXACT [] synonym: "LEFT VENTRICULAR NONCOMPACTION 9" NARROW [] synonym: "LVNC9" NARROW [] synonym: "TPM1-RELATED CONDITION" BROAD [] xref: MESH:C567507 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110458 name: dilated cardiomyopathy 1BB alt_id: MIM:612877 def: "A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18678517 "DO"] synonym: "CMD1BB" EXACT [] synonym: "DSG2-RELATED CONDITION" BROAD [] synonym: "familial isolated dilated cardiomyopathy" EXACT [] xref: MESH:C567877 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110459 name: dilated cardiomyopathy 1FF alt_id: MIM:613286 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13.42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19590045 "DO"] synonym: "CMD1FF" EXACT [] xref: MESH:C567654 is_a: DOID:0050177 ! monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110460 name: dilated cardiomyopathy 2A alt_id: MIM:611880 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the TNNI3 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15070570 "DO"] synonym: "CARDIOMYOPATHY, CONGESTIVE, AUTOSOMAL RECESSIVE" EXACT [] synonym: "CMD2A" EXACT [] synonym: "dilated cardiomyopathy, autosomal recessive" NARROW [] xref: MESH:C567505 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110461 name: X-linked dilated cardiomyopathy alt_id: DOID:0060561 alt_id: DOID:0081164 alt_id: MIM:302045 def: "A dilated cardiomyopathy that has_material_basis_in mutation in the DMD gene encoding dystrophin on chromosome Xp21, without skeletal muscle weakness or wasting. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-dilated-cardiomyopathy#synonyms "DO", https://pubmed.ncbi.nlm.nih.gov/29901616/ "DO", https://pubmed.ncbi.nlm.nih.gov/3574369/ "DO", https://pubmed.ncbi.nlm.nih.gov/8361506/ "DO"] synonym: "CMD3B" EXACT [] synonym: "dilated cardiomyopathy 3B" EXACT [] synonym: "DMD-associated dilated cardiomyopathy" EXACT [] synonym: "DMD-related dilated cardiomyopathy" EXACT [] synonym: "XLCM" EXACT [] xref: MESH:C580047 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:0110462 name: autosomal recessive nonsyndromic deafness 101 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GRXCR2 gene on chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24619944 "DO"] synonym: "autosomal recessive deafness 101" EXACT [] synonym: "DFNB101" EXACT [] xref: MIM:615837 xref: RDO:9001425 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110463 name: autosomal recessive nonsyndromic deafness 102 alt_id: RDO:9001426 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the EPS8 gene on chromosome 12p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24741995 "DO"] synonym: "autosomal recessive deafness 102" EXACT [] synonym: "DFNB102" EXACT [] xref: MIM:615974 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110464 name: autosomal recessive nonsyndromic deafness 103 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CLIC5 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24781754 "DO"] synonym: "autosomal recessive deafness 103" EXACT [] synonym: "DFNB103" EXACT [] xref: MIM:616042 xref: RDO:9001427 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110465 name: autosomal recessive nonsyndromic deafness 104 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the FAM65B gene on chromosome 6p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24958875 "DO"] synonym: "autosomal recessive deafness 104" EXACT [] synonym: "DFNB104" EXACT [] synonym: "RIPOR2-RELATED CONDITION" BROAD [] xref: MIM:616515 xref: MONDO:0014675 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110467 name: autosomal recessive nonsyndromic deafness 12 alt_id: MIM:601386 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CDH23 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11090341 "DO"] synonym: "ATP2B2-RELATED DISORDER" BROAD [] synonym: "autosomal recessive deafness 12" EXACT [] synonym: "autosomal recessive deafness 12, modifier of" RELATED [] synonym: "DFNB12" EXACT [] xref: MESH:C563327 xref: NCI:C201586 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110468 name: autosomal recessive nonsyndromic deafness 13 alt_id: MIM:603098 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 7q34-q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9781028 "DO"] synonym: "autosomal recessive deafness 13" EXACT [] synonym: "DFNB13" EXACT [] xref: MESH:C566410 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110469 name: autosomal recessive nonsyndromic deafness 14 alt_id: MIM:603678 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S554 and D7S2459 in the chromosome region 7q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9887371 "DO"] synonym: "autosomal recessive deafness 14" EXACT [] synonym: "DFNB14" EXACT [] xref: MESH:C566344 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110470 name: autosomal recessive nonsyndromic deafness 15 alt_id: MIM:601869 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the GIPC3 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21326233 "DO"] synonym: "autosomal recessive deafness 15" EXACT [] synonym: "autosomal recessive deafness 72" EXACT [] synonym: "autosomal recessive deafness 95" EXACT [] synonym: "DFMB15" EXACT [] synonym: "DFNB15" EXACT [] synonym: "DFNB72" EXACT [] synonym: "DFNB95" EXACT [] xref: MESH:C566611 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110471 name: autosomal recessive nonsyndromic deafness 16 alt_id: MIM:603720 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the STRC gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11687802 "DO"] synonym: "autosomal recessive deafness 16" EXACT [] synonym: "DFNB16" EXACT [] synonym: "STRC-RELATED CONDITION" EXACT [] xref: MESH:C566339 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110472 name: autosomal recessive nonsyndromic deafness 17 alt_id: MIM:603010 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation between D7S2453 and D7S525 in the chromosome region 7q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15293785 "DO"] synonym: "autosomal recessive deafness 17" EXACT [] synonym: "DFNB17" EXACT [] xref: MESH:C566418 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110473 name: autosomal recessive nonsyndromic deafness 18A def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the USH1C gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12136232 "DO"] synonym: "autosomal recessive deafness 18A" EXACT [] synonym: "DFNB18A" EXACT [] xref: MESH:C566580 xref: MIM:602092 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:9005581 ! Autosomal Recessive Nonsyndromic Deafness 18 [Term] id: DOID:0110474 name: autosomal recessive nonsyndromic deafness 18B def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23122587 "DO"] synonym: "autosomal recessive deafness 18B" EXACT [] synonym: "DFNB18B" EXACT [] synonym: "OTOG-RELATED CONDITION" EXACT [] xref: MIM:614945 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:9005581 ! Autosomal Recessive Nonsyndromic Deafness 18 [Term] id: DOID:0110475 name: autosomal recessive nonsyndromic deafness 1A def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9139825 "DO"] synonym: "autosomal recessive deafness 1A" EXACT [] synonym: "AUTOSOMAL RECESSIVE DEAFNESS TYPE 1A" EXACT [] synonym: "DEAFNESS, DIGENIC, GJB2/GJB3" NARROW [] synonym: "DEAFNESS, DIGENIC, GJB2/GJB6" NARROW [] synonym: "DFNB1A" EXACT [] xref: MESH:C567134 xref: MIM:220290 xref: MONDO:0009076 xref: NCI:C129022 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:0080578 ! digenic disease [Term] id: DOID:0110476 name: autosomal recessive nonsyndromic deafness 1B alt_id: MIM:612645 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually stable hearing loss and has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11807148 "DO"] synonym: "autosomal recessive deafness 1B" EXACT [] synonym: "DFNB1B" EXACT [] xref: MESH:C567213 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110477 name: autosomal recessive nonsyndromic deafness 2 alt_id: MIM:600060 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9171833 "DO"] synonym: "autosomal recessive deafness 2" EXACT [] synonym: "DFNB2" EXACT [] synonym: "Neurosensory Nonsyndromic Recessive Deafness 2" EXACT [] synonym: "NSRD2" EXACT [] xref: MESH:C564007 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110478 name: autosomal recessive nonsyndromic deafness 20 alt_id: MIM:604060 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11q25-qter. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10196710 "DO"] synonym: "autosomal recessive deafness 20" EXACT [] synonym: "DFNB20" EXACT [] xref: MESH:C565828 xref: RDO:0014366 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110479 name: autosomal recessive nonsyndromic deafness 21 alt_id: MIM:603629 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9949200 "DO"] synonym: "autosomal recessive deafness 21" EXACT [] synonym: "DEAFNESS, NEUROSENSORY AUTOSOMAL RECESSIVE 21" EXACT [] synonym: "DFNB21" EXACT [] synonym: "TECTA-RELATED CONDITION" BROAD [] xref: MESH:C566353 xref: RDO:0014731 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110480 name: autosomal recessive nonsyndromic deafness 22 alt_id: MIM:607039 alt_id: RDO:0013526 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOA gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11972037 "DO"] synonym: "autosomal recessive deafness 22" EXACT [] synonym: "DFNB22" EXACT [] synonym: "OTOA-RELATED CONDITION" EXACT [] xref: MESH:C564633 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110481 name: autosomal recessive nonsyndromic deafness 23 alt_id: MIM:609533 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the PCDH15 gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14570705 "DO"] synonym: "autosomal recessive deafness 23" EXACT [] synonym: "DFNB23" EXACT [] xref: MESH:C563705 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110482 name: autosomal recessive nonsyndromic deafness 24 alt_id: MIM:611022 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the RDX gene on chromosome 11q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17226784 "DO"] synonym: "autosomal recessive deafness 24" EXACT [] synonym: "DFNB24" EXACT [] xref: MESH:C567027 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110483 name: autosomal recessive nonsyndromic deafness 25 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the GRXCR1 gene on chromosome 4p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20137778 "DO"] synonym: "autosomal recessive deafness 25" EXACT [] synonym: "DFNB25" EXACT [] xref: MIM:613285 xref: RDO:0009805 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110484 name: autosomal recessive nonsyndromic deafness 26 alt_id: MIM:605428 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11101839 "DO"] synonym: "autosomal recessive deafness 26" EXACT [] synonym: "DFNB26" EXACT [] xref: MESH:C565329 xref: RDO:0013999 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110485 name: autosomal recessive nonsyndromic deafness 27 alt_id: MIM:605818 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11175289 "DO"] synonym: "autosomal recessive deafness 27" EXACT [] synonym: "DFNB27" EXACT [] xref: MESH:C565287 xref: RDO:0013967 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110486 name: autosomal recessive nonsyndromic deafness 28 alt_id: MIM:609823 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TRIOBP gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16385458 "DO"] synonym: "autosomal recessive deafness 28" EXACT [] synonym: "DFNB28" EXACT [] synonym: "TRIOBP-RELATED CONDITION" EXACT [] xref: MESH:C565218 xref: NCI:C129023 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110487 name: autosomal recessive nonsyndromic deafness 29 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the CLDN14 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11163249 "DO"] synonym: "autosomal recessive deafness 29" EXACT [] synonym: "DFNB29" EXACT [] xref: MIM:614035 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110488 name: autosomal recessive nonsyndromic deafness 3 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the MYO15A gene on chromosome 17p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17851452 "DO"] synonym: "autosomal recessive deafness 3" EXACT [] synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 3" EXACT [] synonym: "DFNB3" EXACT [] synonym: "MYO15A-RELATED CONDITION" EXACT [] synonym: "Neurosensory Nonsyndromic Recessive Deafness 3" EXACT [] synonym: "NRSD3" EXACT [] synonym: "NSRD3" EXACT [] xref: MESH:C563961 xref: MIM:600316 xref: MONDO:0010860 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110489 name: autosomal recessive nonsyndromic deafness 30 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutations in the MYO3A gene on chromosome 10p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12032315 "DO"] synonym: "autosomal recessive deafness 30" EXACT [] synonym: "DFNB30" EXACT [] synonym: "MYO3A-RELATED CONDITION" EXACT [] xref: MESH:C564624 xref: MIM:607101 xref: MONDO:0011774 xref: ORDO:90636 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110490 name: autosomal recessive nonsyndromic deafness 31 alt_id: MIM:607084 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the WHRN gene on chromosome 9q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12833159 "DO"] synonym: "autosomal recessive deafness 31" EXACT [] synonym: "DFNB31" EXACT [] synonym: "Whirler, Mouse, Homolog Of" EXACT [] xref: MESH:C564629 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110491 name: autosomal recessive nonsyndromic deafness 32 alt_id: DOID:0110466 alt_id: MIM:608653 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and male infertility in some affected men that has_material_basis_in mutation in the CDC14A gene on chromosome 1p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27259055/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/12634867 "DO"] synonym: "autosomal recessive deafness 105" EXACT [] synonym: "autosomal recessive deafness 32" EXACT [] synonym: "autosomal recessive deafness 32, with or without immotile sperm" EXACT [] synonym: "autosomal recessive nonsyndromic deafness 105" EXACT [] synonym: "DFNB105" EXACT [] synonym: "DFNB32" EXACT [] synonym: "hearing impairment infertile male syndrome" EXACT [] synonym: "HIIMS" EXACT [] xref: MESH:C563884 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110492 name: autosomal recessive nonsyndromic deafness 33 alt_id: MIM:607239 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 10p11.23-q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12080392 "DO"] synonym: "autosomal recessive deafness 33" EXACT [] synonym: "DFNB33" EXACT [] xref: MESH:C564602 xref: RDO:0013505 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110493 name: autosomal recessive nonsyndromic deafness 35 alt_id: MIM:608565 def: "An autosomal recessive nonsyndromic deafness that is characterized severe to profound hearing loss and has_material_basis_in mutation in the ESRRB gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18179891 "DO"] synonym: "autosomal recessive deafness 35" EXACT [] synonym: "DFNB35" EXACT [] xref: MESH:C563908 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110494 name: autosomal recessive nonsyndromic deafness 36 alt_id: MESH:C567219 alt_id: MIM:609006 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the ESPN gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15286153 "DO"] synonym: "autosomal recessive deafness 36" EXACT [] synonym: "autosomal recessive deafness 36, with or without vestibular involvement" EXACT [] synonym: "autosomal recessive deafness 36, without vestibular involvement" EXACT [] synonym: "DEAFNESS, AUTOSOMAL DOMINANT, WITHOUT VESTIBULAR INVOLVEMENT" RELATED [] synonym: "DFNB36" EXACT [] xref: MESH:C563815 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110495 name: autosomal recessive nonsyndromic deafness 37 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12687499 "DO"] synonym: "autosomal recessive deafness 37" EXACT [] synonym: "DFNB37" EXACT [] synonym: "MYO6-RELATED CONDITION" BROAD [] xref: MESH:C564331 xref: MIM:607821 xref: MONDO:0011912 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110496 name: autosomal recessive nonsyndromic deafness 38 alt_id: MIM:608219 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6q26-q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12890929 "DO"] synonym: "autosomal recessive deafness 38" EXACT [] synonym: "DFNB38" EXACT [] xref: MESH:C564273 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110497 name: autosomal recessive nonsyndromic deafness 39 alt_id: MIM:608265 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, downsloping hearing loss and has_material_basis_in mutation in the HGF gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19576567 "DO"] synonym: "autosomal recessive deafness 39" EXACT [] synonym: "DFNB39" EXACT [] xref: MESH:C564265 xref: NCI:C129874 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110498 name: autosomal recessive nonsyndromic deafness 4 alt_id: MIM:600791 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SLC26A4 gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9500541 "DO"] synonym: "autosomal recessive deafness 4" EXACT [] synonym: "autosomal recessive deafness 4 with enlarged vestibular aqueduct" NARROW [] synonym: "DFNB4" EXACT [] synonym: "dilated vestibular aqueduct" NARROW [] synonym: "DVA" NARROW [] synonym: "ENLARGED VESTIBULAR AQUEDUCT SYNDROME" EXACT [] synonym: "KCNJ10-related disorder" BROAD [] synonym: "KCNJ10-related disorders" BROAD [] synonym: "neurosensory nonsyndromic recessive deafness 4" EXACT [] synonym: "NSRD4" EXACT [] synonym: "SLC26A4-RELATED CONDITION" BROAD [] synonym: "SLC26A4-RELATED DISORDER" BROAD [] xref: MESH:C566366 is_a: DOID:0050332 ! enlarged vestibular aqueduct is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110499 name: autosomal recessive nonsyndromic deafness 40 alt_id: MIM:608264 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 22q11.21-q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14512974 "DO"] synonym: "autosomal recessive deafness 40" EXACT [] synonym: "DFNB40" EXACT [] xref: MESH:C564266 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110500 name: autosomal recessive nonsyndromic deafness 42 alt_id: MIM:609646 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ILDR1 gene on chromosome 3q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21255762 "DO"] synonym: "autosomal recessive deafness 42" EXACT [] synonym: "DFNB42" EXACT [] synonym: "ILDR1-RELATED CONDITION" EXACT [] xref: MESH:C566460 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110501 name: autosomal recessive nonsyndromic deafness 44 alt_id: MIM:610154 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ADCY1 gene on chromosome 7p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482543 "DO"] synonym: "autosomal recessive deafness 44" EXACT [] synonym: "DFNB44" EXACT [] xref: MESH:C565716 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110502 name: autosomal recessive nonsyndromic deafness 45 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1q43-q44. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18325041 "DO"] synonym: "autosomal recessive deafness 45" EXACT [] synonym: "DFNB45" EXACT [] xref: MIM:612433 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110503 name: autosomal recessive nonsyndromic deafness 46 alt_id: MIM:609647 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 18p11.32-p11.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15637723 "DO"] synonym: "autosomal recessive deafness 46" EXACT [] synonym: "DFNB46" EXACT [] xref: MESH:C566459 xref: RDO:0014806 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110504 name: autosomal recessive nonsyndromic deafness 47 alt_id: MIM:609946 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p25.1-p24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16261342 "DO"] synonym: "autosomal recessive deafness 47" EXACT [] synonym: "DFNB47" EXACT [] xref: MESH:C566498 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110505 name: autosomal recessive nonsyndromic deafness 48 alt_id: MIM:609439 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CIB2 gene on chromosome 15q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23023331 "DO"] synonym: "autosomal recessive deafness 48" EXACT [] synonym: "DFNB48" EXACT [] xref: MESH:C563720 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110506 name: autosomal recessive nonsyndromic deafness 49 alt_id: MIM:610153 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, stable hearing loss and has_material_basis_in mutation in the MARVELD2 gene on chromosome 5q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18084694 "DO"] synonym: "autosomal recessive deafness 49" EXACT [] synonym: "DFNB49" EXACT [] synonym: "neurosensory deafness, autosomal recessive 49" EXACT [] xref: MESH:C565717 xref: NCI:C129024 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110507 name: autosomal recessive nonsyndromic deafness 5 alt_id: MIM:600792 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8944017 "DO"] synonym: "autosomal recessive deafness 5" EXACT [] synonym: "DFNB5" EXACT [] synonym: "neurosensory nonsyndromic recessive deafness 5" EXACT [] synonym: "NSRD5" EXACT [] xref: MESH:C563444 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110508 name: autosomal recessive nonsyndromic deafness 51 alt_id: MIM:609941 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p13-p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16158433 "DO"] synonym: "autosomal recessive deafness 51" EXACT [] synonym: "DFNB51" EXACT [] xref: MESH:C538202 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:0060140 ! cortical deafness [Term] id: DOID:0110509 name: autosomal recessive nonsyndromic deafness 53 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16033917 "DO"] synonym: "autosomal recessive deafness 53" EXACT [] synonym: "DFNB53" EXACT [] xref: MESH:C566453 xref: MIM:609706 xref: MONDO:0012333 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110510 name: autosomal recessive nonsyndromic deafness 55 alt_id: MIM:609952 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16098016 "DO"] synonym: "autosomal recessive deafness 55" EXACT [] synonym: "DFNB55" EXACT [] xref: GARD:9919 xref: MESH:C538203 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:0060140 ! cortical deafness [Term] id: DOID:0110511 name: autosomal recessive nonsyndromic deafness 59 alt_id: MIM:610220 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the DFNB59 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17301963 "DO"] synonym: "autosomal recessive deafness 59" EXACT [] synonym: "DFNB59" EXACT [] xref: MESH:C565698 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110512 name: autosomal recessive nonsyndromic deafness 6 alt_id: MIM:600971 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMIE gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12145746 "DO"] synonym: "autosomal recessive deafness 6" EXACT [] synonym: "DFNB6" EXACT [] synonym: "neurosensory nonsyndromic recessive deafness 6" EXACT [] synonym: "NSRD6" EXACT [] synonym: "TMIE-RELATED CONDITION" EXACT [] xref: MESH:C563418 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110513 name: autosomal recessive nonsyndromic deafness 61 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the SLC26A5 gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12719379 "DO"] synonym: "autosomal recessive deafness 61" EXACT [] synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC HEARING LOSS 61" EXACT [] synonym: "DFNB61" EXACT [] xref: MIM:613865 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110514 name: autosomal recessive nonsyndromic deafness 62 alt_id: MIM:610143 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 12p13.2-p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16650082 "DO"] synonym: "autosomal recessive deafness 62" EXACT [] synonym: "DFNB62" EXACT [] xref: MESH:C565719 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110515 name: autosomal recessive nonsyndromic deafness 63 alt_id: MIM:611451 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LRTOMT gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18953341 "DO"] synonym: "autosomal recessive deafness 63" EXACT [] synonym: "DFNB63" EXACT [] xref: MESH:C566951 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110516 name: autosomal recessive nonsyndromic deafness 65 alt_id: MIM:610248 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 20q13.2-q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16596430 "DO"] synonym: "autosomal recessive deafness 65" EXACT [] synonym: "DFNB65" EXACT [] xref: MESH:C565211 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110517 name: autosomal recessive nonsyndromic deafness 66 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the DCDC2 gene on chromosome 6p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25601850 "DO"] synonym: "autosomal recessive deafness 66" EXACT [] synonym: "DFNB66" EXACT [] xref: MESH:C565701 xref: MIM:610212 xref: MONDO:0012442 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110518 name: autosomal recessive nonsyndromic deafness 67 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the LHFPL5 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16459341 "DO"] synonym: "autosomal recessive deafness 67" EXACT [] synonym: "DFNB67" EXACT [] synonym: "LHFPL5-RELATED CONDITION" EXACT [] xref: MESH:C565207 xref: MIM:610265 xref: MONDO:0012460 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110519 name: autosomal recessive nonsyndromic deafness 68 alt_id: MIM:610419 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the S1PR2 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26805784 "DO"] synonym: "autosomal recessive deafness 68" EXACT [] synonym: "DFNB68" EXACT [] xref: MESH:C563669 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110520 name: autosomal recessive nonsyndromic deafness 7 alt_id: MIM:600974 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11850618 "DO"] synonym: "autosomal recessive deafness 11" EXACT [] synonym: "autosomal recessive deafness 7" EXACT [] synonym: "DFNB11" EXACT [] synonym: "DFNB7" EXACT [] xref: MESH:C563417 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110521 name: autosomal recessive nonsyndromic deafness 70 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the PNPT1 gene on chromosome 2p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23084290 "DO"] synonym: "autosomal recessive deafness 70" EXACT [] synonym: "autosomal recessive deafness 70, with or without adult-onset neurodegeneration" EXACT [] synonym: "DFNB70" EXACT [] xref: MIM:614934 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110522 name: autosomal recessive nonsyndromic deafness 71 alt_id: MIM:612789 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 8p22-p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19229252 "DO"] synonym: "autosomal recessive deafness 71" EXACT [] synonym: "DFNB71" EXACT [] xref: MESH:C567562 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110523 name: autosomal recessive nonsyndromic deafness 74 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MSRB3 gene on chromosome 12q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21185009 "DO"] synonym: "autosomal recessive deafness 74" EXACT [] synonym: "DFNB74" EXACT [] xref: MIM:613718 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110524 name: autosomal recessive nonsyndromic deafness 76 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with high frequency, progressive hearing loss and has_material_basis_in mutation in the SYNE4 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23348741 "DO"] synonym: "autosomal recessive deafness 76" EXACT [] synonym: "DFNB76" EXACT [] xref: MIM:615540 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110525 name: autosomal recessive nonsyndromic deafness 77 alt_id: MIM:613079 def: "An autosomal recessive nonsyndromic deafness that is characterized by postlingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the LOXHD1 gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19732867 "DO"] synonym: "autosomal recessive deafness 77" EXACT [] synonym: "AUTOSOMAL RECESSIVE DEAFNESS TYPE 77" EXACT [] synonym: "DFNB77" EXACT [] xref: MESH:C567543 xref: RDO:0015594 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110526 name: autosomal recessive nonsyndromic deafness 79 alt_id: MIM:613307 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TPRN gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20170899 "DO"] synonym: "autosomal recessive deafness 79" EXACT [] synonym: "DFNB79" EXACT [] xref: MESH:C567651 xref: RDO:0015667 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110527 name: autosomal recessive nonsyndromic deafness 8 alt_id: RDO:0008796 alt_id: RDO:0014006 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TMPRSS3 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11137999 "DO"] synonym: "autosomal recessive deafness 8" EXACT [] synonym: "Deafness, Autosomal Recessive 10" EXACT [] synonym: "Deafness, Autosomal Recessive 8/10" EXACT [] synonym: "DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8" EXACT [] synonym: "DFNB10" EXACT [] synonym: "DFNB8" EXACT [] synonym: "Neurosensory Nonsyndromic Recessive Deafness 8" EXACT [] synonym: "NRSD8" EXACT [] synonym: "NSRD8" EXACT [] synonym: "TMPRSS3-RELATED CONDITION" EXACT [] xref: MESH:C563395 xref: MESH:C565341 xref: MIM:601072 xref: RDO:0012661 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110528 name: autosomal recessive nonsyndromic deafness 83 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p23-p21.2. (DO)" [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss "DO", https://www.omim.org/entry/613685 "DO"] synonym: "autosomal recessive deafness 83" EXACT [] synonym: "DFNB83" EXACT [] xref: MIM:613685 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110529 name: autosomal recessive nonsyndromic deafness 84A def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with moderate to profound, progressive hearing loss and has_material_basis_in mutation in the PTPRQ gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20346435 "DO"] synonym: "autosomal recessive deafness 84A" EXACT [] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 84" EXACT [] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 84A, WITH VESTIBULAR DYSFUNCTION" EXACT [] synonym: "DFNB84" EXACT [] synonym: "DFNB84A" EXACT [] xref: MIM:613391 xref: RDO:0009830 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110530 name: autosomal recessive nonsyndromic deafness 84B def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOGL gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23122586 "DO"] synonym: "autosomal recessive deafness 84B" EXACT [] synonym: "DFNB84B" EXACT [] synonym: "OTOGL-RELATED CONDITION" EXACT [] xref: MIM:614944 xref: RDO:9000269 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110531 name: autosomal recessive nonsyndromic deafness 85 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 17p12-q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19888295 "DO"] synonym: "autosomal recessive deafness 85" EXACT [] synonym: "DFNB85" EXACT [] xref: MIM:613392 xref: RDO:0009831 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110532 name: autosomal recessive nonsyndromic deafness 86 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24387994 "DO"] synonym: "autosomal recessive deafness 86" EXACT [] synonym: "DFNB86" EXACT [] xref: MIM:614617 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110533 name: autosomal recessive nonsyndromic deafness 88 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the ELMOD3 gene on chromosome 2p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24039609 "DO"] synonym: "autosomal recessive deafness 88" EXACT [] synonym: "DFNB88" EXACT [] xref: MIM:615429 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110534 name: autosomal recessive nonsyndromic deafness 89 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the KARS gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23768514 "DO"] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 89" EXACT [] synonym: "DFNB89" EXACT [] xref: MIM:613916 xref: MONDO:0013489 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110535 name: autosomal recessive nonsyndromic deafness 9 alt_id: DOID:9005224 def: "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10192385 "DO"] synonym: "AUDITORY NEUROPATHY, NONSYNDROMIC RECESSIVE" RELATED [] synonym: "AUDITORY NEUROPATHY SPECTRUM DISORDER" EXACT [] synonym: "AUNB1" RELATED [] synonym: "autosomal recessive auditory neuropathy 1" RELATED [] synonym: "autosomal recessive deafness 9" EXACT [] synonym: "DFNB9" EXACT [] synonym: "NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 9" EXACT [] synonym: "NRSD9" EXACT [] synonym: "NSRAN" RELATED [] synonym: "OTOF-RELATED CONDITION" BROAD [] xref: MESH:C563396 xref: MESH:C563398 xref: MIM:601071 xref: MONDO:0010986 xref: NCI:C116364 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness is_a: DOID:9001890 ! Auditory Neuropathy [Term] id: DOID:0110536 name: autosomal recessive nonsyndromic deafness 91 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the SERPINB6 gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20451170 "DO"] synonym: "autosomal recessive deafness 91" EXACT [] synonym: "autosomal recessive nonsyndromic hearing loss 91" EXACT [] synonym: "DFNB91" EXACT [] synonym: "SERPINB6 autosomal recessive nonsyndromic deafness" EXACT [] xref: MIM:613453 xref: MONDO:0013269 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110537 name: autosomal recessive nonsyndromic deafness 93 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the CABP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22981119 "DO"] synonym: "autosomal recessive deafness 93" EXACT [] synonym: "DFNB93" EXACT [] xref: MIM:614899 xref: MONDO:0013963 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110538 name: autosomal recessive nonsyndromic deafness 96 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in variation in the chromosome region 1p36.31-p36.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21937999 "DO"] synonym: "autosomal recessive deafness 96" EXACT [] synonym: "DFNB96" EXACT [] xref: MIM:614414 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0110539 name: autosomal recessive nonsyndromic deafness 97 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the MET gene on chromosome 7q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25941349 "DO"] synonym: "autosomal recessive deafness 97" EXACT [] synonym: "DFNB97" EXACT [] xref: MIM:616705 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110540 name: autosomal recessive nonsyndromic deafness 98 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the TSPEAR gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22678063 "DO"] synonym: "autosomal recessive deafness 98" EXACT [] synonym: "DFNB98" EXACT [] xref: MIM:614861 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0110541 name: autosomal dominant nonsyndromic deafness 1 def: "An autosomal dominant nonsyndromic deafness that is characterized by low frequency progressive hearing loss and has_material_basis_in mutation in the DIAPH1 gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9360932 "DO"] synonym: "autosomal dominant deafness 1" EXACT [] synonym: "autosomal dominant deafness 1, with or without thrombocytopenia" EXACT [] synonym: "DFNA1" EXACT [] synonym: "hereditary low frequency hearing loss" RELATED [] synonym: "hereditary low frequency hearing loss 1" EXACT [] synonym: "Konigsmark syndrome" EXACT [] synonym: "LFHL1" EXACT [] synonym: "progressive low tone deafness" RELATED [] xref: MESH:C565121 xref: MIM:124900 xref: MONDO:0007424 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110542 name: autosomal dominant nonsyndromic deafness 10 alt_id: MIM:601316 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the third or forth decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the EYA4 gene on chromosome 6q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11159937 "DO"] synonym: "autosomal dominant deafness 10" EXACT [] synonym: "DFNA10" EXACT [] synonym: "EYA4-RELATED DISORDER" BROAD [] synonym: "EYA4-RELATED DISORDERS" BROAD [] xref: MESH:C563354 xref: RDO:0012636 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110543 name: autosomal dominant nonsyndromic deafness 11 alt_id: MIM:601317 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life with a flat or gently downsloping audioprofiles and has_material_basis_in mutation in the MYO7A gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9354784 "DO"] synonym: "autosomal dominant deafness 11" EXACT [] synonym: "DFNA11" EXACT [] xref: MESH:C563353 xref: RDO:0012635 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110544 name: autosomal dominant nonsyndromic deafness 12 alt_id: MIM:601543 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and mid-frequency hearing loss and has_material_basis_in mutation in the TECTA gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590290 "DO"] synonym: "autosomal dominant deafness 12" EXACT [] synonym: "autosomal dominant deafness 8" EXACT [] synonym: "autosomal dominant deafness 8/12" EXACT [] synonym: "DFNA12" EXACT [] synonym: "DFNA8" EXACT [] synonym: "TECTA-RELATED CONDITION" BROAD [] xref: MESH:C563295 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110545 name: autosomal dominant nonsyndromic deafness 13 alt_id: MIM:601868 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade of life with mid-frequency hearing loss and has_material_basis_in mutation in the COL11A2 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10581026 "DO"] synonym: "autosomal dominant deafness 13" EXACT [] synonym: "DFNA13" EXACT [] xref: MESH:C566612 xref: RDO:0014923 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110546 name: autosomal dominant nonsyndromic deafness 15 alt_id: DOID:0110578 alt_id: MIM:602459 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27535032/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/9506947 "DO"] synonym: "autosomal dominant deafness 15" EXACT [] synonym: "autosomal dominant deafness 52" EXACT [] synonym: "autosomal dominant nonsyndromic deafness 52" EXACT [] synonym: "DEAFNESS, AUTOSOMAL DOMINANT 42" EXACT [] synonym: "DFNA15" EXACT [] synonym: "DFNA42" EXACT [] synonym: "DFNA52" EXACT [] synonym: "POU4F3-RELATED CONDITION" EXACT [] xref: MESH:C564348 xref: MESH:C566545 xref: MONDO:0011893 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110547 name: autosomal dominant nonsyndromic deafness 16 alt_id: MIM:603964 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2q23-q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10364526 "DO"] synonym: "autosomal dominant deafness 16" EXACT [] synonym: "DFNA16" EXACT [] xref: MESH:C565832 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110548 name: autosomal dominant nonsyndromic deafness 17 alt_id: MIM:603622 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYH9 gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11023810 "DO"] synonym: "autosomal dominant deafness 17" EXACT [] synonym: "COCHLEOSACCULAR DEGENERATION" NARROW [] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 17" EXACT [] synonym: "DFNA17" EXACT [] synonym: "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" EXACT [] synonym: "MYH9-RELATED CONDITION" BROAD [] xref: MESH:C538050 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:0060651 ! MYH-9 related disease [Term] id: DOID:0110549 name: autosomal dominant nonsyndromic deafness 18 alt_id: MIM:606012 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11313754 "DO"] synonym: "autosomal dominant deafness 18" EXACT [] synonym: "DFNA18" EXACT [] xref: MESH:C565267 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110550 name: autosomal dominant nonsyndromic deafness 20 alt_id: MIM:604717 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13680526 "DO"] synonym: "ACTG1-RELATED CONDITION" BROAD [] synonym: "ACTG1-RELATED DISORDER" BROAD [] synonym: "autosomal dominant deafness 20" EXACT [] synonym: "Deafness, autosomal dominant 20/26" EXACT [] synonym: "DFNA20" EXACT [] synonym: "DFNA26" EXACT [] xref: MESH:C565754 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110551 name: autosomal dominant nonsyndromic deafness 21 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p24.1-p22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10764236 "DO"] synonym: "autosomal dominant deafness 21" EXACT [] synonym: "DFNA21" EXACT [] synonym: "RIPOR2-RELATED CONDITION" BROAD [] xref: MESH:C564634 xref: MIM:607017 xref: MONDO:0011761 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110552 name: autosomal dominant nonsyndromic deafness 22 alt_id: MIM:606346 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the MYO6 gene on chromosome 6q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11468689 "DO"] synonym: "autosomal dominant deafness 22" EXACT [] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 22" EXACT [] synonym: "DFNA 22" EXACT [] synonym: "DFNA22" EXACT [] synonym: "DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY," EXACT [] synonym: "MYO6-RELATED CONDITION" BROAD [] xref: MESH:C538197 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy [Term] id: DOID:0110553 name: autosomal dominant nonsyndromic deafness 23 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15141091 "DO"] synonym: "autosomal dominant deafness 23" EXACT [] synonym: "deafness, autosomal dominant nonsyndromic sensorineural 23" EXACT [] synonym: "DFNA23" EXACT [] xref: MESH:C538198 xref: MESH:C565357 xref: MIM:605192 xref: MONDO:0011519 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110554 name: autosomal dominant nonsyndromic deafness 24 alt_id: MIM:606282 alt_id: RDO:0004142 alt_id: RDO:0013939 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q35-qter. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10739769 "DO"] synonym: "autosomal dominant deafness 24" EXACT [] synonym: "autosomal dominant nonsyndromic sensorineural deafness 24" EXACT [] synonym: "DFNA24" EXACT [] xref: GARD:9166 xref: MESH:C538199 xref: MESH:C565239 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110555 name: autosomal dominant nonsyndromic deafness 25 alt_id: MIM:605583 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second-sixth decade of life with high frequency progressive hearing loss and has_material_basis_in mutation in the SLC17A8 gene on chromosome 12q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18674745 "DO"] synonym: "autosomal dominant deafness 25" EXACT [] synonym: "DFNA25" EXACT [] xref: MESH:C565319 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110556 name: autosomal dominant nonsyndromic deafness 27 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 4q12-q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18279434 "DO"] synonym: "autosomal dominant deafness 27" EXACT [] synonym: "autosomal dominant nonsyndromic hearing loss 27" EXACT [] synonym: "DFNA27" EXACT [] xref: MIM:612431 xref: MONDO:0012902 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110557 name: autosomal dominant nonsyndromic deafness 28 alt_id: MIM:608641 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the GRHL2 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12393799 "DO"] synonym: "autosomal dominant deafness 28" EXACT [] synonym: "DFNA28" EXACT [] xref: MESH:C563890 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110558 name: autosomal dominant nonsyndromic deafness 2A def: "An autosomal dominant nonsyndromic deafness that is characterized by high frequency progressive hearing loss and has_material_basis_in mutation in the KCNQ4 gene on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10025409 "DO"] synonym: "autosomal dominant deafness 2A" EXACT [] synonym: "DFNA2A" EXACT [] synonym: "DFNA 2 Nonsyndromic Hearing Loss" EXACT [] synonym: "KCNQ4-RELATED CONDITION" EXACT [] xref: MESH:C567441 xref: MIM:600101 xref: MONDO:0010817 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110559 name: autosomal dominant nonsyndromic deafness 2B def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the fourth decade of life with by high frequency progressive hearing loss and has_material_basis_in mutation in the GJB3 gene on chromosome 1p34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9843210 "DO"] synonym: "autosomal dominant deafness 2B" EXACT [] synonym: "DFNA2B" EXACT [] xref: MESH:C567214 xref: MIM:612644 xref: MONDO:0012976 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110560 name: autosomal dominant nonsyndromic deafness 30 alt_id: MIM:606451 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 15q25-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11571554 "DO"] synonym: "autosomal dominant deafness 30" EXACT [] synonym: "DFNA30" EXACT [] xref: MESH:C564706 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110561 name: autosomal dominant nonsyndromic deafness 31 alt_id: MIM:608645 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 6p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11559344 "DO"] synonym: "autosomal dominant deafness 31" EXACT [] synonym: "DFNA31" EXACT [] xref: MESH:C563888 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110562 name: autosomal dominant nonsyndromic deafness 33 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 13q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19183916/ "DO"] synonym: "autosomal dominant deafness 33" EXACT [] synonym: "DFNA33" EXACT [] xref: MIM:614211 xref: MONDO:0013632 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110563 name: autosomal dominant nonsyndromic deafness 36 alt_id: MIM:606705 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently downsloping audioprofiles and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11850618 "DO"] synonym: "autosomal dominant deafness 36" EXACT [] synonym: "DFNA36" EXACT [] synonym: "TMC1-RELATED CONDITION" BROAD [] xref: MESH:C564675 xref: NCI:C174444 xref: RDO:0013550 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110564 name: autosomal dominant nonsyndromic deafness 3A alt_id: MIM:601544 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual, high frequency hearing loss and has_material_basis_in mutation in the GJB2 gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9139825 "DO"] synonym: "autosomal dominant deafness 3A" EXACT [] synonym: "DFNA3A" EXACT [] xref: MESH:C567277 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110565 name: autosomal dominant nonsyndromic deafness 3B alt_id: MIM:612643 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the GJB6 gene on chromosome 13q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10471490 "DO"] synonym: "autosomal dominant deafness 3B" EXACT [] synonym: "DFNA3B" EXACT [] xref: MESH:C567215 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110566 name: autosomal dominant nonsyndromic deafness 40 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CRYM gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12471561 "DO"] synonym: "autosomal dominant deafness 40" EXACT [] synonym: "DFNA40" EXACT [] xref: MIM:616357 xref: RDO:9001421 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110567 name: autosomal dominant nonsyndromic deafness 41 alt_id: MIM:608224 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat progressive hearing loss and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the purinergic receptor P2X 2 gene (P2RX2) on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24211385 "DO", https://www.omim.org/entry/608224 "DO"] synonym: "autosomal dominant deafness 41" EXACT [] synonym: "DFNA41" EXACT [] synonym: "P2RX2-RELATED CONDITION" EXACT [] xref: MESH:C564272 xref: NCI:C175700 xref: RDO:0013294 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110568 name: autosomal dominant nonsyndromic deafness 43 alt_id: MIM:608394 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12676899 "DO"] synonym: "autosomal dominant deafness 43" EXACT [] synonym: "DFNA43" EXACT [] xref: MESH:C564246 xref: RDO:0013272 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110569 name: autosomal dominant nonsyndromic deafness 44 alt_id: MIM:607453 def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset with low to mild frequency progressive hearing loss and has_material_basis_in mutation in the CCDC50 gene on chromosome 3q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17503326 "DO"] synonym: "autosomal dominant deafness 44" EXACT [] synonym: "DFNA44" EXACT [] xref: MESH:C564399 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110570 name: autosomal dominant nonsyndromic deafness 47 alt_id: MIM:608652 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 9p22-p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12634859 "DO"] synonym: "autosomal dominant deafness 47" EXACT [] synonym: "DFNA47" EXACT [] xref: MESH:C563885 xref: RDO:0013025 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110571 name: autosomal dominant nonsyndromic deafness 48 alt_id: MIM:607841 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with progressive hearing loss and has_material_basis_in variation in the chromosome region 12q13-q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12736868 "DO"] synonym: "autosomal dominant deafness 48" EXACT [] synonym: "DFNA48" EXACT [] xref: MESH:C564322 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110572 name: autosomal dominant nonsyndromic deafness 49 alt_id: MIM:608372 alt_id: RDO:0013276 def: "An autosomal dominant nonsyndromic deafness that is characterized by moderate loss for low and mid frequencies and mild loss for high frequencies and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14627674 "DO"] synonym: "autosomal dominant deafness 49" EXACT [] synonym: "DFNA49" EXACT [] xref: MESH:C564250 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110573 name: autosomal dominant nonsyndromic deafness 4A def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with flat or gently sloping hearing audioprofiles and has_material_basis_in mutation in the MYH14 gene on chromosome 19q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15015131 "DO"] synonym: "autosomal dominant deafness 4A" EXACT [] synonym: "DFNA4A" EXACT [] synonym: "MYH14-RELATED CONDITION" BROAD [] xref: MIM:600652 xref: MONDO:0010915 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110574 name: autosomal dominant nonsyndromic deafness 4B def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CEACAM16 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21368133 "DO"] synonym: "autosomal dominant deafness 4B" EXACT [] synonym: "DFNA4B" EXACT [] xref: MIM:614614 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110575 name: autosomal dominant nonsyndromic deafness 5 alt_id: MIM:600994 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the first decade of life and high frequency progressive hearing loss, and has_material_basis_in heterozygous mutation in the gasdermin E (GSDME) gene on chromosome 7p15. (DO)" [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss "DO", https://www.ncbi.nlm.nih.gov/pubmed/29849037 "DO", https://www.omim.org/entry/600994 "DO"] synonym: "autosomal dominant deafness 5" EXACT [] synonym: "DFNA5" EXACT [] xref: MESH:C563410 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110576 name: autosomal dominant nonsyndromic deafness 50 def: "An autosomal dominant nonsyndromic deafness that is characterized postlingual onset in the second decade of life with flat progressive hearing loss and has_material_basis_in mutation in the MIRN96 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19363479 "DO"] synonym: "autosomal dominant deafness 50" EXACT [] synonym: "DFNA50" EXACT [] xref: MIM:613074 xref: RDO:0009751 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110577 name: autosomal dominant nonsyndromic deafness 51 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the fourth decade of life with high frequency progressive hearing loss and has_material_basis_in a 269-kb duplication of chromosome 9q21.11 involving the TJP2 and FAM189A2 genes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20602916 "DO"] synonym: "autosomal dominant deafness 51" EXACT [] synonym: "chromosome 9q21.11 duplication syndrome" EXACT [] synonym: "DFNA51" EXACT [] xref: MIM:613558 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:0060429 ! chromosomal duplication syndrome [Term] id: DOID:0110579 name: autosomal dominant nonsyndromic deafness 53 alt_id: MIM:609965 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 14q11.2-q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15958501 "DO"] synonym: "autosomal dominant deafness 53" EXACT [] synonym: "DFNA53" EXACT [] xref: GARD:9934 xref: MESH:C566495 xref: RDO:0014833 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110580 name: autosomal dominant nonsyndromic deafness 54 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15490091 "DO"] synonym: "autosomal dominant deafness 54" EXACT [] synonym: "DFNA54" EXACT [] xref: MIM:615649 xref: MONDO:0014291 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:0110581 name: autosomal dominant nonsyndromic deafness 56 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TNC gene on chromosome 9q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23936043 "DO"] synonym: "autosomal dominant deafness 56" EXACT [] synonym: "DFNA56" EXACT [] synonym: "TNC-RELATED CONDITION" EXACT [] xref: MIM:615629 xref: RDO:9001018 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110582 name: autosomal dominant nonsyndromic deafness 58 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 2p21-p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19159392 "DO"] synonym: "autosomal dominant deafness 58" EXACT [] synonym: "DFNA58" EXACT [] xref: MIM:615654 xref: NCI:C201585 xref: RDO:9002346 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:0110583 name: autosomal dominant nonsyndromic deafness 59 alt_id: MIM:612642 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in variation in the chromosome region 11p14.2-q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19030898 "DO"] synonym: "autosomal dominant deafness 59" EXACT [] synonym: "DFNA59" EXACT [] xref: MESH:C567216 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110584 name: autosomal dominant nonsyndromic deafness 6 def: "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11709537 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11709538 "DO"] synonym: "autosomal dominant deafness 6" EXACT [] synonym: "Deafness, Autosomal Dominant 14" EXACT [] synonym: "Deafness, Autosomal Dominant 38" EXACT [] synonym: "DFNA14" EXACT [] synonym: "DFNA38" EXACT [] synonym: "DFNA6" EXACT [] synonym: "DFNA6/14/38" EXACT [] xref: MESH:C563421 xref: MIM:600965 xref: MONDO:0010963 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110585 name: autosomal dominant nonsyndromic deafness 64 alt_id: RDO:9000264 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the DIABLO gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21722859 "DO"] synonym: "autosomal dominant deafness 64" EXACT [] synonym: "DFNA64" EXACT [] xref: MIM:614152 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110586 name: autosomal dominant nonsyndromic deafness 65 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the TBC1D24 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24729539 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24729547 "DO"] synonym: "autosomal dominant deafness 65" RELATED [] synonym: "DFNA65" RELATED [] xref: MIM:616044 xref: RDO:9002446 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:9008681 ! Deafness [Term] id: DOID:0110587 name: autosomal dominant nonsyndromic deafness 66 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the CD164 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26197441 "DO"] synonym: "autosomal dominant deafness 66" EXACT [] synonym: "autosomal dominant nonsyndromic hearing loss 66" EXACT [] synonym: "DFNA66" EXACT [] xref: MIM:616969 xref: MONDO:0014854 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110588 name: autosomal dominant nonsyndromic deafness 67 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25077649 "DO"] synonym: "autosomal dominant deafness 67" EXACT [] synonym: "DFNA67" EXACT [] xref: MIM:616340 xref: RDO:9001423 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110589 name: autosomal dominant nonsyndromic deafness 68 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the HOMER2 gene on chromosome 15q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25816005 "DO"] synonym: "autosomal dominant deafness 68" EXACT [] synonym: "DFNA68" EXACT [] xref: MIM:616707 xref: RDO:9000776 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110590 name: autosomal dominant nonsyndromic deafness 69 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the KITLG gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26522471 "DO"] synonym: "autosomal dominant deafness 69" EXACT [] synonym: "DCUA" EXACT [] synonym: "Deafness, autosomal dominant 69, unilateral or asymmetric" EXACT [] synonym: "DEAFNESS, CONGENITAL, UNILATERAL OR ASYMMETRIC" EXACT [] synonym: "DFNA69" EXACT [] xref: ICD10CM:H90.3 xref: MIM:616697 xref: RDO:9000404 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110591 name: autosomal dominant nonsyndromic deafness 7 def: "An autosomal dominant nonsyndromic deafness that is characterized by progressive high-tone hearing loss and has_material_basis_in variation in the chromosome region 1q21-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8842739 "DO"] synonym: "autosomal dominant deafness 7" EXACT [] synonym: "DFNA7" EXACT [] xref: MESH:C563321 xref: MIM:601412 xref: MONDO:0011074 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110592 name: autosomal dominant nonsyndromic deafness 70 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the MCM2 gene on chromosome 3q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26196677 "DO"] synonym: "autosomal dominant deafness 70" EXACT [] synonym: "DFNA70" EXACT [] xref: MIM:616968 xref: MONDO:0014853 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110593 name: autosomal dominant nonsyndromic deafness 9 def: "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9806553 "DO"] synonym: "autosomal dominant deafness 9" EXACT [] synonym: "DFNA9" EXACT [] xref: MESH:C563335 xref: MIM:601369 xref: MONDO:0011058 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:0110594 name: primary ciliary dyskinesia 1 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect and in about half of patients situs inversus and has_material_basis_in compound heterozygous mutation in the DNAI1 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10577904 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD1" EXACT [] synonym: "DNAI1-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 1 with or without situs inversus" EXACT [] xref: MIM:244400 xref: MONDO:0009484 xref: NCI:C128117 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:0110595 name: Stromme syndrome alt_id: MIM:243605 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25564561 "DO"] synonym: "apple peel syndrome with microcephaly and ocular anomalies" EXACT [] synonym: "CILD31" EXACT [] synonym: "jejunal atresia with microcephaly and ocular anomalies" EXACT [] synonym: "lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome" EXACT [] synonym: "primary ciliary dyskinesia 31" EXACT [] synonym: "STROMS" EXACT [] xref: EFO:0009160 xref: MESH:C565460 is_a: DOID:10486 ! intestinal atresia is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110596 name: primary ciliary dyskinesia 21 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with a missing Nexin link, infantile onset of chronic sinopulmonary infections, and has_material_basis_in homozygous mutation in the DRC1 gene on chromosome 2p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23354437 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD21" EXACT [] synonym: "DRC1-RELATED CONDITION" BROAD [] synonym: "primary ciliary dyskinesia 21 without situs inversus" EXACT [] xref: MIM:615294 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110597 name: primary ciliary dyskinesia 22 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent respiratory infections, persistent rhinosinusitis, otitis media, chronic cough, variable presence of situs abnormalities, and has_material_basis_in homozygous or compound heterozygous mutation in the ZMYND10 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23891469 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23891471 "DO"] synonym: "CILD22" EXACT [] synonym: "primary ciliary dyskinesia 22, with or without situs inversus" EXACT [] synonym: "ZMYND10-RELATED CONDITION" EXACT [] xref: MIM:615444 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110598 name: primary ciliary dyskinesia 14 alt_id: OMIA:001540 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect and axonemal disorganization, chronic upper and lower airway infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC39 gene on chromosome 3q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21131972 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CCDC39-RELATED CONDITION" EXACT [] synonym: "CILD14" EXACT [] synonym: "primary ciliary dyskinesia 14, with or without situs inversus" EXACT [] xref: MIM:613807 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110599 name: primary ciliary dyskinesia 3 alt_id: MIM:608644 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, ciliary akinesia and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the DNAH5 gene on chromosome 5p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11788826 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD3" EXACT [] synonym: "DNAH5-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 3, with or without situs inversus" EXACT [] synonym: "RESPIRATORY CILIOPATHIES INCLUDING NON-CF BRONCHIECTASIS" BROAD [] xref: ICD10CM:Q34.8 xref: MESH:C535278 xref: NCI:C172392 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110600 name: primary ciliary dyskinesia 29 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with oligocilia and early childhood onset of recurrent respiratory infections, and has_material_basis_in homozygous or compound heterozygous mutation in the CCNO gene on chromosome 5p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24747639 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CCNO-RELATED CONDITION" EXACT [] synonym: "CILD29" EXACT [] synonym: "primary ciliary dyskinesia 29, without situs inversus" EXACT [] xref: MIM:615872 xref: NCI:C172393 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110601 name: primary ciliary dyskinesia 12 alt_id: MIM:612650 def: "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, and nasal symptoms, and has_material_basis_in homozygous mutation in the RSPH9 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19200523 "DO"] synonym: "CILD12" EXACT [] synonym: "primary ciliary dyskinesia 12, without situs inversus" EXACT [] xref: MESH:C567211 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110602 name: primary ciliary dyskinesia 11 alt_id: MIM:612649 def: "A primary ciliary dyskinesia that is characterized by reduced exercise tolerance, chronic wet cough, recurrent respiratory infections, bronchiectasis, nasal symptoms, ear obstruction with consequent hearing problems, low weight, and short stature, and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH4A gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19200523 "DO"] synonym: "CILD11" EXACT [] synonym: "primary ciliary dyskinesia 11, without situs inversus" EXACT [] synonym: "RSPH4A-RELATED CONDITION" EXACT [] xref: MESH:C567212 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110603 name: primary ciliary dyskinesia 32 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with near absence of radial spokes, respiratory distress in term neonates, impaired mucociliary clearance, chronic respiratory infections, bronchiectasis, and infertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH3 gene on chromosome 6q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26073779 "DO"] synonym: "CILD32" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 32, WITHOUT SITUS INVERSUS" EXACT [] xref: MIM:616481 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110604 name: primary ciliary dyskinesia 18 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, early infantile onset of recurrent sinopulmonary infections, male infertility, and variable occurence of situs inversus and has_material_basis_in homozygous mutation in the HEATR2 gene on chromosome 7p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23040496 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD18" EXACT [] synonym: "DNAAF5-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 18 with or without situs inversus" EXACT [] xref: MIM:614874 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110605 name: primary ciliary dyskinesia 7 alt_id: MIM:611884 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with chronic respiratory infections, chronic sinusitis, recurrent bronchitis, and pneumonia beginning in infancy or early childhood and has_material_basis_in mutation in the DNAH11 gene on chromosome 7p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18022865 "DO"] synonym: "CILD7" EXACT [] synonym: "DNAH11-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 7 with or without situs inversus" EXACT [] xref: MESH:C567504 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110606 name: primary ciliary dyskinesia 6 alt_id: MIM:610852 def: "A primary ciliary dyskinesia that is characterized by partial outer dynein arm defect and has_material_basis_in mutation in the TXNDC3 gene on the chromosome 7p14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17360648 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD6" EXACT [] synonym: "NME8-RELATED CONDITION" EXACT [] xref: MESH:C567057 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110607 name: primary ciliary dyskinesia 28 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, and decreased fertility and has_material_basis_in homozygous or compound heterozygous mutation in the SPAG1 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24055112 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD28" EXACT [] synonym: "primary ciliary dyskinesia 28 with or without situs inversus" EXACT [] xref: MIM:615505 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110608 name: primary ciliary dyskinesia 19 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer and inner dynein arm defect, chronic sinopulmonary infections, asthenospermia, and immotile cilia and has_material_basis_in homozygous mutation in the LRRC6 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23122589 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD19" EXACT [] synonym: "DNAAF11-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 19 with or without situs inversus" EXACT [] xref: MIM:614935 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110609 name: primary ciliary dyskinesia 23 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, respiratory distress and recurrent upper and lower airway infections, and variable occurence of situs inversus and has_material_basis_in homozygous or compound heterozygous mutation in the ARMC4 gene on chromosome 10p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23849778 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD23" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 23, WITH OR WITHOUT SITUS INVERSUS" EXACT [] xref: MIM:615451 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110610 name: primary ciliary dyskinesia 34 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with childhood onset of recurrent sinopulmonary infections and male infertility and has_material_basis_in homozygous mutation in the DNAJB13 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27486783 "DO"] synonym: "CILD34" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 34, WITHOUT SITUS INVERSUS" EXACT [] xref: MIM:617091 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110611 name: primary ciliary dyskinesia 27 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with neonatal respiratory distress, recurrent upper and lower airway disease, and bronchiectasis and has_material_basis_in homozygous mutation in the CCDC65 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24094744 "DO"] synonym: "CILD27" EXACT [] synonym: "primary ciliary dyskinesia 27 without situs inversus" EXACT [] xref: MIM:615504 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110612 name: primary ciliary dyskinesia 10 alt_id: MIM:612518 def: "A primary ciliary dyskinesia that is characterized by outer and inner dynein arm absence, chronic otitis media, sinusitis, recurrent pneumonia and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the KTU gene on chromosome 14q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19052621 "DO"] synonym: "CILD10" EXACT [] synonym: "DNAAF2-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 10, with or without situs inversus" EXACT [] xref: MESH:C567287 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110613 name: primary ciliary dyskinesia 16 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absence of ciliary outer dynein arms, early infantile onset of respiratory distress, and variable occurrence of situs inversus and has_material_basis_in homozygous mutation in the DNAL1 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21496787 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD16" EXACT [] synonym: "primary ciliary dyskinesia 16 with or without situs inversus" EXACT [] xref: MIM:614017 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110614 name: primary ciliary dyskinesia 4 alt_id: MIM:608646 def: "A primary ciliary dyskinesia that is characterized by partial absence of the inner dynein arms with variable occurrence of situs inversus and has_material_basis_in variation in the chromosome region 15q13.1-q15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14985390 "DO"] synonym: "CILD4" EXACT [] synonym: "primary ciliary dyskinesia 4, with or without situs inversus" EXACT [] xref: MESH:C535279 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110615 name: primary ciliary dyskinesia 25 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, decreased fertility and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the DYX1C1 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23872636 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD25" EXACT [] synonym: "DNAAF4-RELATED CONDITION" BROAD [] synonym: "primary ciliary dyskinesia 25, with or without situs inversus" EXACT [] xref: MIM:615482 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110616 name: primary ciliary dyskinesia 8 alt_id: MIM:612274 def: "A primary ciliary dyskinesia that has_material_basis_in variation in the chromosome region 15q24-q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18270537 "DO"] synonym: "CILD8" EXACT [] synonym: "primary ciliary dyskinesia 8, with or without situs inversus" EXACT [] xref: MESH:C567373 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110617 name: primary ciliary dyskinesia 5 alt_id: MIM:608647 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with early onset of a progressive decline in lung function and has_material_basis_in homozygous mutation in the HYDIN gene on chromosome 16q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23022101 "DO"] synonym: "CILD5" EXACT [] synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT [] xref: MESH:C563886 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110618 name: primary ciliary dyskinesia 13 alt_id: MIM:613193 def: "A primary ciliary dyskinesia that is characterized by inner and outer dynein arm defect, immotile cilia, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the LRRC50 gene on chromosome 16q23-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19944400 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD13" EXACT [] synonym: "DNAAF1-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 13, with or without situs inversus" EXACT [] xref: MESH:C567713 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110619 name: primary ciliary dyskinesia 33 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the GAS8 gene on chromosome 16q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26387594 "DO"] synonym: "CILD33" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS" EXACT [] xref: MIM:616726 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110620 name: primary ciliary dyskinesia 35 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with absent outer dynein arms, immotile cilia, variable occurence of laterality defects and recurrent upper and lower respiratory infections and has_material_basis_in homozygous mutation in the TTC25 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27486780 "DO"] synonym: "CILD35" EXACT [] synonym: "primary ciliary dyskinesia 35 with or without situs inversus" EXACT [] xref: MIM:617092 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110621 name: primary ciliary dyskinesia 17 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, early infantile onset of respiratory distress, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC103 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22581229 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD17" EXACT [] synonym: "primary ciliary dyskinesia 17, with or without situs inversus" EXACT [] xref: MIM:614679 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110622 name: primary ciliary dyskinesia 9 alt_id: MIM:612444 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, neonatal respiratory distress, sinusitis, otitis, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAI2 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18950741 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD9" EXACT [] synonym: "DNAI2-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 9, with or without situs inversus" EXACT [] synonym: "RESPIRATORY CILIOPATHIES INCLUDING NON-CF BRONCHIECTASIS" BROAD [] xref: MESH:C567310 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110623 name: primary ciliary dyskinesia 15 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner dynein arm defect, axonemal disorganization, recurrent respiratory infections and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC40 gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21131974 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CCDC40-RELATED CONDITION" EXACT [] synonym: "CILD15" EXACT [] synonym: "primary ciliary dyskinesia 15, with or without situs inversus" EXACT [] xref: MIM:613808 xref: NCI:C155999 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110624 name: primary ciliary dyskinesia 30 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, recurrent upper and lower airway disease, bronchiectasis, nasal blockages, polyps, otitis media, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the CCDC151 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25192045 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD30" EXACT [] synonym: "primary ciliary dyskinesia 30, with or without situs inversus" EXACT [] synonym: "primary ciliary dyskinesia 30 without situs inversus" EXACT [] xref: MIM:616037 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110625 name: primary ciliary dyskinesia 20 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with outer dynein arm defect, infantile onset of chronic sinopulmonary infections, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the CCDC114 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23261303 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD20" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 20, WITH OR WITHOUT SITUS INVERSUS" EXACT [] xref: MIM:615067 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110626 name: primary ciliary dyskinesia 2 alt_id: MIM:606763 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, otitis media, sinusitis, chronic cough, recurrent respiratory infections, and variable occurence of laterality defects and has_material_basis_in homozygous mutation in the DNAAF3 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22387996 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD2" EXACT [] synonym: "DNAAF3-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 2, with or without situs inversus" EXACT [] xref: MESH:C535277 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110627 name: primary ciliary dyskinesia 26 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with inner and outer dynein arm defect, neonatal respiratory distress, recurrent upper and lower airway disease, bronchiectasis, and variable occurence of laterality defects and has_material_basis_in homozygous or compound heterozygous mutation in the C21ORF59 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24094744 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26998415 "DO"] synonym: "CILD26" EXACT [] synonym: "primary ciliary dyskinesia 26 with or without situs inversus" EXACT [] xref: MIM:615500 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110628 name: primary ciliary dyskinesia 24 def: "A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance with sinopulmonary infection and subfertility and has_material_basis_in homozygous or compound heterozygous mutation in the RSPH1 gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23993197 "DO"] synonym: "CILD24" EXACT [] synonym: "CILIARY DYSKINESIA, PRIMARY, 24, WITHOUT SITUS INVERSUS" EXACT [] xref: MIM:615481 is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0110629 name: Wolfram syndrome 1 def: "An autosomal recessive disease that is characterized by diabetes mellitus, optic atrophy, and deafness as well as various other possible disorders and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the WFS1 gene on chromosome 4p16.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21538838 "DO"] synonym: "diabetes mellitus AND insipidus with optic atrophy AND deafness" EXACT [] synonym: "WFS1" EXACT [] xref: ICD10CM:E13.8 xref: MIM:222300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10632 ! Wolfram syndrome created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110630 name: Wolfram syndrome 2 alt_id: MIM:604928 def: "An autosomal recessive neurodegenerative disorder characterized by diabetes mellitus, high frequency sensorineural hearing loss, optic atrophy or neuropathy, and defective platelet aggregation resulting in peptic ulcer bleeding. It has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CISD2 gene on chromosome 4q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25056293 "DO"] synonym: "WFS2" EXACT [] xref: MESH:C565733 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10632 ! Wolfram syndrome is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002644 ! Premature Aging [Term] id: DOID:0110632 name: megaconial type congenital muscular dystrophy alt_id: MIM:602541 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of early-onset muscle wasting and intellectual disability with enlarged mitochondria that are more prevalent towards the periphery of the fibers that has_material_basis_in homozygous or compound heterozygous mutation in the CHKB gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16371353 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21665002 "DO"] synonym: "congenital megaconial myopathy" EXACT [] synonym: "congenital muscular dystrophy, CHKB-related" BROAD [] synonym: "congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect" EXACT [] synonym: "congenital muscular dystrophy with mitochondrial structural abnormalities" EXACT [] synonym: "MDCMC" EXACT [] synonym: "megaconial congenital muscular dystrophy" EXACT [] xref: MESH:C566527 xref: ORDO:280671 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110633 name: rigid spine muscular dystrophy 1 alt_id: MIM:602771 def: "A congenital muscular dystrophy characterized by intrasarcoplasmic aggregates of desmin resulting in spinal rigidity, abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SEPN1 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11528383 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12192640 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15122708 "DO"] synonym: "classic MmD" EXACT [] synonym: "classic multiminicore disease" EXACT [] synonym: "classic multiminicore myopathy" EXACT [] synonym: "CMYP3" EXACT [] synonym: "congenital muscular dystrophy, merosin positive with early spine rigidity" EXACT [] synonym: "congenital muscular dystrophy with rigid spine" EXACT [] synonym: "congenital myopathy 3 with rigid spine" EXACT [] synonym: "Desmin-related myopathies with Mallory bodies" EXACT [] synonym: "Desmin-Related Myopathy With Mallory Bodies" EXACT [] synonym: "desmin-related myopathy with Mallory body-like inclusions" EXACT [] synonym: "early-onset desmin-related myopathy" EXACT [] synonym: "MDRS1" EXACT [] synonym: "Minicore myopathy, severe classic form" EXACT [] synonym: "Multicore myopathy, severe classic form" EXACT [] synonym: "Multiminicore/minicore/multicore disease" EXACT [] synonym: "Multi-minicore disease and atypical periodic paralysis" NARROW [] synonym: "Multiminicore disease, severe classic form" EXACT [] synonym: "Muscular Dystrophy, Congenital, Eichsfeld Type" EXACT [] synonym: "rigid spine syndrome" EXACT [] synonym: "RSMD1" EXACT [] synonym: "RSS" EXACT [] synonym: "SEPN1-related disorder" BROAD [] synonym: "SEPN1-related myopathy" EXACT [] xref: GARD:4723 xref: ICD10CM:G71.8 xref: MESH:C535683 xref: NCI:C126691 xref: ORDO:324604 xref: ORDO:84132 xref: ORDO:97244 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060249 ! scoliosis [Term] id: DOID:0110634 name: congenital muscular dystrophy 1B alt_id: MIM:604801 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of proximal muscle weakness, muscle hypertrophy, and early respiratory failure that has_material_basis_in variation in the chromosome region 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10677302 "DO"] synonym: "congenital muscular dystrophy type 1B" EXACT [] synonym: "MDC1B" EXACT [] xref: ICD10CM:G71.2 xref: MESH:C565748 xref: ORDO:98893 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110635 name: muscular dystrophy-dystroglycanopathy type B5 alt_id: MIM:606612 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with variable penetrance of intellectual disability and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the FKRP gene on chromosome 19q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11592034 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14652796 "DO"] synonym: "congenital muscular dystrophy 1C" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B5" NARROW [] synonym: "congenital muscular dystrophy-dystroglycanopathy with or without impaired intellectual development, type B5" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy without mental retardation, type B5" NARROW [] synonym: "congenital muscular dystrophy, FKRP-related" EXACT [] synonym: "MDC1C" EXACT [] synonym: "MDDGB5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type B, 5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5" EXACT [] xref: MESH:C564691 xref: ORDO:52428 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B [Term] id: DOID:0110636 name: congenital merosin-deficient muscular dystrophy 1A alt_id: MIM:607855 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscle weakness that is apparent at birth or in the first 6 months of life and frequent development of periventricular white matter abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LAMA2 gene on chromosome 6q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24611677 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550355 "DO"] synonym: "CMD1A" EXACT [] synonym: "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT [] synonym: "congenital muscular dystrophy, LAMA2-related" BROAD [] synonym: "LAMININ ALPHA 2-RELATED DYSTROPHY" EXACT [] synonym: "MDC1A" EXACT [] synonym: "merosin-deficient congenital muscular dystrophy" EXACT [] synonym: "merosin-negative congenital muscular dystrophy" EXACT [] synonym: "MUSCULAR DYSTROPHY, CONGENITAL, MEROSIN DEFICIENT OR PARTIALLY DEFICIENT" EXACT [] xref: EFO:0009138 xref: MESH:C537384 xref: NCI:C118783 xref: ORDO:258 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110637 name: muscular dystrophy-dystroglycanopathy type B6 alt_id: MIM:608840 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance of muscular dystrophy with mental retardation and structural brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the LARGE gene on chromosome 22q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12966029 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19067344 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B6" EXACT [] synonym: "CONGENITAL MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY WITH MENTAL RETARDATION, TYPE B6" EXACT [] synonym: "congenital muscular dystrophy, LARGE-related" EXACT [] synonym: "congenital muscular dystrophy, type 1D" EXACT [] synonym: "MDC1D" EXACT [] synonym: "MDDGB6" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 6" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6" EXACT [] xref: MESH:C563844 xref: ORDO:98894 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0110639 name: congenital muscular dystrophy due to integrin alpha-7 deficiency alt_id: MIM:613204 alt_id: RDO:0015704 def: "A congenital muscular dystrophy characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the ITGA7 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9590299 "DO"] synonym: "congenital muscular dystrophy due to ITGA7 deficiency" EXACT [] synonym: "CONGENITAL MUSCULAR DYSTROPHY, ITGA7-RELATED" EXACT [] synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [] synonym: "congenital muscular dystrophy with ITGA7 deficiency" EXACT [] synonym: "congenital myopathy due to Integrin Alpha-7 deficiency" EXACT [] xref: MESH:C567709 xref: ORDO:34520 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110640 name: congenital muscular dystrophy due to LMNA mutation alt_id: MIM:613205 def: "A congenital muscular dystrophy characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15148145 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18551513 "DO"] synonym: "congenital muscular dystrophy LMNA-related" EXACT [] synonym: "L-CMD" EXACT [] synonym: "Mdcl" EXACT [] xref: MESH:C567708 xref: NCI:C148369 xref: ORDO:157973 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006138 ! Laminopathies [Term] id: DOID:0110644 name: long QT syndrome 1 alt_id: RDO:9000717 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNQ1 gene on chromosome 11p15.5-p15.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17192539 "DO"] synonym: "LONG QT SYNDROME 1, ACQUIRED, SUSCEPTIBILITY TO" NARROW [] synonym: "long QT syndrome 1, recessive" NARROW [] synonym: "long QT syndrome, LQT1 subtype" EXACT [] synonym: "long QT syndrome type 1" EXACT [] synonym: "LQT1" EXACT [] synonym: "LQT1/2, Digenic" NARROW [] synonym: "LQT1 subtype" EXACT [] synonym: "ventricular fibrillation with prolonged QT interval" EXACT [] synonym: "VENTRICULAR FIBRILLATION WITH PROLONGED QT INTERVAL LONG QT SYNDROME 1/2, DIGENIC" NARROW [] xref: GARD:3284 xref: MIM:192500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110645 name: long QT syndrome 2 alt_id: MIM:613688 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNH2 gene on chromosome 7q36.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7889573 "DO"] synonym: "KCNH2-RELATED CONDITION" BROAD [] synonym: "KCNH2-RELATED DISORDERS" BROAD [] synonym: "LONG QT SYNDROME 2/9, DIGENIC" NARROW [] synonym: "LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO" NARROW [] synonym: "LONG QT SYNDROME, BRADYCARDIA-INDUCED" EXACT [] synonym: "LQT2" EXACT [] synonym: "LQT2/9, digenic" NARROW [] xref: GARD:3285 xref: MESH:C563614 xref: NCI:C137957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110646 name: long QT syndrome 3 alt_id: MIM:603830 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN5A gene on chromosome 3p22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8541846 "DO"] synonym: "LONG QT SYNDROME 3, ACQUIRED, SUSCEPTIBILITY TO" RELATED [] synonym: "Long QT Syndrome Type 3" EXACT [] synonym: "LQT3" EXACT [] xref: GARD:3286 xref: MESH:C537034 xref: MESH:C565840 xref: NCI:C137959 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110647 name: long QT syndrome 5 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE1 gene on chromosome 21q22.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10973849 "DO"] synonym: "KCNE1-RELATED CONDITION" BROAD [] synonym: "LONG QT SYNDROME 5, ACQUIRED, SUSCEPTIBILITY TO" NARROW [] synonym: "LQT5" EXACT [] xref: GARD:10433 xref: ICD10CM:I45.8 xref: MESH:C566766 xref: MIM:613695 xref: MONDO:0013372 xref: NCI:C172094 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110648 name: long QT syndrome 6 alt_id: MIM:613693 def: "A long QT interval syndrome that has_material_basis_in dominant inheritance of mutation in the KCNE2 gene on chromosome 21q22.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10219239 "DO"] synonym: "KCNE2-RELATED DISORDER" BROAD [] synonym: "LONG QT SYNDROME 6, ACQUIRED, SUSCEPTIBILITY TO" RELATED [] synonym: "LQT6" EXACT [] xref: GARD:10434 xref: MESH:C566333 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110649 name: long QT syndrome 8 def: "A long QT syndrome characterized by a prolonged QT interval and polymorphic ventricular tachycardia (torsades de pointes) that has_material_basis_in heterozygous mutation in the CACNA1C gene on chromosome 12p13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34079780 "DO", https://pubmed.ncbi.nlm.nih.gov/37132248/ "DO", https://www.omim.org/MIM\:618447 "DO"] synonym: "LQT8" EXACT [] xref: MIM:618447 xref: NCI:C142894 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome created_by: mtutaj creation_date: 2024-02-28T17:22:06Z [Term] id: DOID:0110650 name: long QT syndrome 9 def: "A long QT syndrome that has_material_basis_in mutation of the CAV3 gene on chromosome 3p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17060380 "DO"] synonym: "LONG QT SYNDROME 2/9, DIGENIC" NARROW [] synonym: "Long Qt Syndrome 2-9" EXACT [] synonym: "LONG QT SYNDROME 9, ACQUIRED, SUSCEPTIBILITY TO" NARROW [] synonym: "LQT2/9, digenic" NARROW [] synonym: "LQT9" EXACT [] xref: GARD:10435 xref: MESH:C567515 xref: MIM:611818 xref: MONDO:0012736 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080578 ! digenic disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110651 name: long QT syndrome 10 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SCN4B gene on chromosome 11q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17592081 "DO"] synonym: "LQT10" EXACT [] xref: GARD:10436 xref: MESH:C567514 xref: MIM:611819 xref: MONDO:0012737 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110652 name: long QT syndrome 11 alt_id: MIM:611820 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the AKAP9 gene on chromosome 7q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18093912 "DO"] synonym: "AKAP9-RELATED CONDITION" EXACT [] synonym: "LQT11" EXACT [] xref: GARD:10437 xref: MESH:C567513 xref: NCI:C192195 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110653 name: long QT syndrome 12 alt_id: MIM:612955 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the SNTA1 gene on chromosome 20q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19684871 "DO"] synonym: "LQT12" EXACT [] xref: MESH:C567842 xref: NCI:C192202 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110654 name: long QT syndrome 13 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the KCNJ5 gene on chromosome 11q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20560207 "DO"] synonym: "LQT13" EXACT [] xref: MIM:613485 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110655 name: long QT syndrome 14 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM1 gene on chromosome 14q32.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24076290 "DO"] synonym: "LQT14" EXACT [] xref: MIM:616247 xref: NCI:C177534 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110656 name: long QT syndrome 15 def: "A long QT syndrome that has_material_basis_in dominant inheritance of mutation in the CALM2 gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23388215 "DO"] synonym: "LQT15" EXACT [] xref: MIM:616249 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0110657 name: congenital myasthenic syndrome 8 alt_id: RDO:9000868 alt_id: RDO:9003080 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of prominent defects of both the pre- and postsynaptic regions and muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the AGRN gene on chromosome 1p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19631309 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22205389 "DO"] synonym: "CMS8" EXACT [] synonym: "CMSPPD" EXACT [] synonym: "congenital myasthenic syndrome 8 with pre- and postsynaptic defects" EXACT [] synonym: "congenital myasthenic syndrome due to agrin deficiency" EXACT [] synonym: "congenital myasthenic syndrome, with pre- and postsynaptic defects" EXACT [] xref: MIM:615120 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110658 name: congenital myasthenic syndrome 15 alt_id: RDO:9001469 def: "A congenital myasthenic syndrome characterized by onset of progressive fatigable proximal muscle weakness in childhood that has_material_basis_in compound heterozygous mutation in the ALG14 gene on chromosome 1p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23404334 "DO"] synonym: "CMS15" EXACT [] synonym: "CMSWTA" EXACT [] synonym: "congenital myasthenic syndrome 15 without tubular aggregates" EXACT [] synonym: "congenital myasthenic syndrome without tubular aggregates" EXACT [] xref: MIM:616227 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:0110659 name: congenital myasthenic syndrome 7 def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic defects with onset of symptoms in early childhood that has_material_basis_in heterozygous mutation in the SYT2 gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25192047 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CMS7" EXACT [] synonym: "congenital myasthenic syndrome 7 presynaptic" EXACT [] synonym: "congenital presynaptic myasthenic syndrome with or without motor neuropathy" EXACT [] synonym: "MYSPC" EXACT [] synonym: "SYT2-RELATED CONDITION" BROAD [] xref: MIM:616040 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110660 name: congenital myasthenic syndrome 12 alt_id: RDO:9000586 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of onset of proximal muscle weakness in the first decade that generally responds well to acetylcholinesterase inhibitor treatment that has_material_basis_in homozygous or compound heterozygous mutation in the GFPT1 gene on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12467753 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21310273 "DO"] synonym: "CMS12" EXACT [] synonym: "CMSTA1" EXACT [] synonym: "congenital myasthenia 12 with tubular aggregates" EXACT [] synonym: "Myasthenic Syndrome, Congenital, with Tubular Aggregates 1" EXACT [] xref: MIM:610542 xref: NCI:C168997 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110661 name: congenital myasthenic syndrome 20 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of severe hypotonia associated with episodic apnea that has_material_basis_in homozygous or compound heterozygous mutation in the SLC5A7 gene on chromosome 2q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27569547 "DO"] synonym: "CMS20" EXACT [] synonym: "congenital myasthenic syndrome 20 presynaptic" EXACT [] xref: MIM:617143 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110662 name: congenital myasthenic syndrome 1B def: "A congenital myasthenic syndrome characterized by defects in postsynaptic neuromuscular junctions with early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10195214 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15079006 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CHRNA1-related congenital myasthenic syndrome" BROAD [] synonym: "CMS1B" EXACT [] synonym: "congenital myasthenic syndrome 1B, fast-channel" EXACT [] xref: MIM:608930 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006988 ! Congenital Myasthenic Syndrome, Fast-Channel created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110663 name: congenital myasthenic syndrome 1A alt_id: MIM:601462 def: "A congenital myasthenic syndrome characterized by predominantly autosomal dominant inheritance of defects in postsynaptic neuromuscular junctions and early-onset progressive muscle weakness that has_material_basis_in mutation in the CHRNA1 gene on chromosome 2q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7619526 "DO"] synonym: "CHRNA1-related congenital myasthenic syndrome" BROAD [] synonym: "CMS1A" EXACT [] synonym: "CMS2A (formerly)" RELATED [] synonym: "CMS IIa (formerly)" RELATED [] synonym: "congenital myasthenic syndrome 1A, slow-channel" EXACT [] synonym: "congenital myasthenic syndrome, postsynaptic slow-channel" EXACT [] synonym: "congenital myasthenic syndrome type IIa" RELATED [] synonym: "congenital myasthenic syndrome type IIa (formerly)" RELATED [] is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110664 name: congenital myasthenic syndrome 3C alt_id: RDO:9001488 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, low amplitude of the miniature endplate potential and current, and early-onset muscle weakness that has_material_basis_in compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16916845 "DO"] synonym: "CMS3C" EXACT [] synonym: "congenital myasthenic syndrome 3C associated with acetylcholine receptor deficiency" EXACT [] xref: MIM:616323 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110665 name: congenital myasthenic syndrome 3B def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects resulting in rapid decay in endplate current and a failure to reach the threshold for depolarization and early onset progressive muscular weakness that has_material_basis_in homozygous or compound heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11435464 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CMS3B" EXACT [] synonym: "congenital myasthenic syndrome 3B, fast-channel" EXACT [] xref: MIM:616322 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:9006988 ! Congenital Myasthenic Syndrome, Fast-Channel created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110666 name: congenital myasthenic syndrome 3A def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects resulting in prolonged synaptic currents and early-onset progressive muscle weakness that has_material_basis_in heterozygous mutation in the CHRND gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11782989 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CMS3A" EXACT [] synonym: "congenital myasthenic syndrome 3A, slow-channel" EXACT [] xref: MIM:616321 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0110667 name: congenital myasthenic syndrome 5 alt_id: MIM:603034 alt_id: OMIA:001928 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a defect within the synapse at the neuromuscular junction resulting in prolonged synaptic currents and action potentials that has_material_basis_in homozygous or compound heterozygous mutation in the COLQ gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CMS1C" EXACT [] synonym: "CMS5" EXACT [] synonym: "CMS Ic" EXACT [] synonym: "congenital myasthenic syndrome, COLQ-related" NARROW [] synonym: "congenital myasthenic syndrome, due to COLQ" NARROW [] synonym: "congenital myasthenic syndrome, Engel type" EXACT [] synonym: "congenital myasthenic syndrome type Ic" EXACT [] synonym: "EAD" EXACT [] synonym: "Endplate Acetylcholinesterase Deficiency" EXACT [] synonym: "end plate acetylcholinesterase deficiency" EXACT [] synonym: "Engel congenital myasthenic syndrome" EXACT [] xref: MESH:C566415 xref: NCI:C129304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110668 name: congenital myasthenic syndrome 10 alt_id: DOID:0110638 alt_id: MIM:254300 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a postsynaptic defect affecting endplate maintenance of the NMJ and development of limb-girdle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22884442/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/16917026 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CMS10" EXACT [] synonym: "CMS1B (formerly)" RELATED [] synonym: "CMS Ib" EXACT [] synonym: "CMS Ib (formerly)" RELATED [] synonym: "congenital muscular dystrophy merosin-positive" EXACT [] synonym: "congenital myasthenic syndrome type Ib" EXACT [] synonym: "congenital myasthenic syndrome type IB (formerly)" RELATED [] synonym: "LGM" EXACT [] synonym: "LGM (formerly)" RELATED [] synonym: "myasthenic myopathy (formerly)" RELATED [] xref: MESH:C536089 xref: MESH:C563716 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110669 name: congenital myasthenic syndrome 14 alt_id: RDO:9001468 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of slowly progressive development of limb-girdle muscle weakness with onset in early childhood that has_material_basis_in homozygous mutation in the ALG2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23404334 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24461433 "DO"] synonym: "CMS14" EXACT [] synonym: "CMSTA3" EXACT [] synonym: "congenital myasthenic syndrome 14, with tubular aggregates" EXACT [] synonym: "congenital myasthenic syndrome with tubular aggregates 3" EXACT [] xref: MIM:616228 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:0110670 name: congenital myasthenic syndrome 9 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in postsynaptic neuromuscular junctions, reduced miniature endplate potential amplitude, proximal muscle weakness and episodic respiratory insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15496425 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CMS9" EXACT [] synonym: "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency" EXACT [] xref: MIM:616325 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110671 name: congenital myasthenic syndrome 6 alt_id: MIM:254210 alt_id: OMIA:002072 alt_id: RDO:0001050 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of a presynaptic defect resulting in onset of muscle weakeness in infancy or early childhood and a tendency to have sudden apneic episodes that has_material_basis_in homozygous or compound heterozygous mutation in the CHAT gene on chromosome 10q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11172068 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12756141 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CMS1A2" EXACT [] synonym: "CMS6" EXACT [] synonym: "CMSEA" EXACT [] synonym: "CMS Ia2" EXACT [] synonym: "congenital myasthenic syndrome 6, presynaptic" EXACT [] synonym: "congenital myasthenic syndrome associated with episodic apnea" EXACT [] synonym: "congenital myasthenic syndrome, CHAT-related" EXACT [] synonym: "congenital myasthenic syndrome, due to CHAT" EXACT [] synonym: "congenital myasthenic syndrome type 1a" EXACT [] synonym: "congenital myasthenic syndrome type Ia" EXACT [] synonym: "congenital myasthenic syndrome type Ia2" EXACT [] synonym: "congenital myasthenic syndrome with episodic apnea" EXACT [] synonym: "congenital presynaptic myasthenic syndrome associated with episodic apnea" EXACT [] synonym: "FIM" EXACT [] synonym: "FIMG2" EXACT [] synonym: "Myasthenia familial infantile" EXACT [] synonym: "MYASTHENIA GRAVIS, FAMILIAL INFANTILE, 2" EXACT [] xref: MESH:C535759 xref: NCI:C132292 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:437 ! myasthenia gravis is_a: DOID:9004992 ! Apnea [Term] id: DOID:0110672 name: congenital myasthenic syndrome 21 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of hypotonia, apneas, and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the SLC18A3 gene on chromosome 10q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20123977 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27590285 "DO"] synonym: "CMS21" EXACT [] synonym: "congenital myasthenic syndrome 21, presynaptic" EXACT [] xref: MIM:617239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110673 name: congenital myasthenic syndrome 19 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of defects in the neuromuscular junction resulting in generalized muscle weakness, exercise intolerance, and respiratory insufficiency that has_material_basis_in homozygous mutation in the COL13A1 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26626625 "DO"] synonym: "CMS19" EXACT [] synonym: "COL13A1-RELATED CONDITION" EXACT [] xref: MIM:616720 xref: MONDO:0014745 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2016-01-14T00:00:00Z [Term] id: DOID:0110674 name: congenital myasthenic syndrome 17 def: "A congenital myasthenic syndrome that has_material_basis_in compound heterozygous mutation in the LRP4 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24234652 "DO"] synonym: "CMS17" EXACT [] xref: MIM:616304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-27T00:00:00Z [Term] id: DOID:0110675 name: congenital myasthenic syndrome 11 alt_id: MIM:616326 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of low amplitude of the miniature endplate potential and current resulting from deficiency of Acetylcholine Receptor (AChR) at the endplate that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12651869 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CMS11" EXACT [] synonym: "CMS1E" EXACT [] synonym: "CMS IE" EXACT [] synonym: "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency" EXACT [] synonym: "congenital myasthenic syndrome 1E" EXACT [] synonym: "congenital myasthenic syndrome IE" EXACT [] xref: MESH:C563831 xref: NCI:C177546 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:9008585 ! Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0110676 name: congenital myasthenic syndrome 13 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of proximal muscle weakness, decremental response to repeated nerve stimulation in EMG studies, and favorable response to acetylcholinesterase inhibitors that has_material_basis_in compound heterozygous mutation in the DPAGT1 gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16870884 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22742743 "DO"] synonym: "CMS13" EXACT [] synonym: "CMSTA2" EXACT [] synonym: "congenital myasthenic syndrome 13 with tubular aggregates" EXACT [] synonym: "congenital myasthenic syndrome with tubular aggregates 2" EXACT [] xref: MIM:614750 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110677 name: congenital myasthenic syndrome 4B def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the AChR channel that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8755487 "DO"] synonym: "CMS4B" EXACT [] synonym: "congenital myasthenic syndrome 4B, fast-channel" EXACT [] xref: MIM:616324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006988 ! Congenital Myasthenic Syndrome, Fast-Channel is_a: DOID:9008786 ! congenital myasthenic syndrome 4 created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110678 name: congenital myasthenic syndrome 4A alt_id: MIM:605809 def: "A congenital myasthenic syndrome characterized by postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous or rarely biallelic mutation in the CHRNE gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12141316 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7531341 "DO"] synonym: "CMS1A1" EXACT [] synonym: "CMS4A" EXACT [] synonym: "CMS Ia1" EXACT [] synonym: "congenital myasthenic syndrome 4A, slow-channel" EXACT [] synonym: "Congenital Myasthenic Syndrome Type Ia1" EXACT [] synonym: "congenital myasthenic syndrometype Ia1" EXACT [] synonym: "Myasthenia, Familial Infantile, 1" EXACT [] xref: MESH:C565289 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008786 ! congenital myasthenic syndrome 4 [Term] id: DOID:0110679 name: congenital myasthenic syndrome 4C alt_id: MIM:608931 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in homozygous or compound heterozygous mutation in the CHRNE gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8957026 "DO"] synonym: "CMS1D" EXACT [] synonym: "CMS4C" EXACT [] synonym: "CMS Id" EXACT [] synonym: "congenital myasthenic syndrome 4C, associated with acetylcholine receptor deficiency" EXACT [] synonym: "congenital myasthenic syndrome type Id" EXACT [] synonym: "familial infantile myasthenia 1" EXACT [] synonym: "familial infantile myasthenia 1 (formerly)" RELATED [] synonym: "FIM1" EXACT [] synonym: "FIM1 (formerly)" RELATED [] synonym: "Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency" EXACT [] synonym: "postsynaptic congenital myasthenic syndrome associated with acetylcholine receptor deficiency" EXACT [] xref: MESH:C536090 xref: NCI:C174216 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008786 ! congenital myasthenic syndrome 4 [Term] id: DOID:0110680 name: congenital myasthenic syndrome 2C alt_id: RDO:9004859 def: "A congenital myasthenic syndrome characterized by autosomal recessive inheritance of postsynaptic neuromuscular junction defects, early-onset muscle weakness, and low amplitude of the miniature endplate potential and current that has_material_basis_in compound heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10562302 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO"] synonym: "CMS2C" EXACT [] synonym: "congenital myasthenic syndrome 2C associated with acetylcholine receptor deficiency" EXACT [] xref: MIM:616314 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:9008585 ! Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0110681 name: congenital myasthenic syndrome 2A alt_id: RDO:9003082 def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and prolonged opening and activity of the acetylcholine receptor channel that has_material_basis_in heterozygous mutation in the CHRNB1 gene on chromosome 17p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25792100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8872460 "DO"] synonym: "CMS2A" EXACT [] synonym: "CMS IIA" EXACT [] synonym: "congenital myasthenic syndrome 2A slow-channel" EXACT [] xref: MIM:616313 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110682 name: congenital myasthenic syndrome 16 alt_id: MIM:614198 alt_id: RDO:0014367 alt_id: RDO:9000585 def: "A congenital myasthenic syndrome that has_material_basis_in heterozygous or homozygous mutation in the SCN4A gene on chromosome 17q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12766226 "DO"] synonym: "CMS16" EXACT [] synonym: "congenital myasthenic syndrome, acetazolamide-responsive" EXACT [] synonym: "myasthenic syndrome due to mutation in SCN4A" EXACT [] xref: MESH:C565830 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:0110683 name: congenital myasthenic syndrome 18 def: "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25381298 "DO"] synonym: "CMS18" EXACT [] synonym: "congenital myasthenic syndrome 18 with intellectual disability and ataxia" NARROW [] xref: MIM:616330 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3635 ! congenital myasthenic syndrome created_by: rgd creation_date: 2017-03-10T00:00:00Z [Term] id: DOID:0110698 name: hypotrichosis 1 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the APCDD1 gene on chromosome 18p11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10878665 "DO"] synonym: "hereditary generalized hypotrichosis simplex" EXACT [] synonym: "hereditary generelized hypotrichosis simplex" EXACT [] synonym: "hereditary hypotrichosis simplex" EXACT [] synonym: "HHS" EXACT [] synonym: "HTS" EXACT [] synonym: "hypotrichosis simplex" EXACT [] synonym: "HYPT1" EXACT [] xref: MESH:C537160 xref: MIM:605389 xref: MONDO:0011549 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110699 name: hypotrichosis 2 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the CDSN gene on chromosome 6p21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12754508 "DO"] synonym: "HTSS" EXACT [] synonym: "HTSS1" EXACT [] synonym: "hypotrichosis simplex of scalp" EXACT [] synonym: "hypotrichosis simplex of the scalp 1" EXACT [] synonym: "hypotrichosis, Spanish type" EXACT [] synonym: "HYPT2" EXACT [] xref: MESH:C564143 xref: MIM:146520 xref: MONDO:0007805 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110700 name: hypotrichosis 3 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT74 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21188418 "DO"] synonym: "HTSS2" EXACT [] synonym: "HYPOTRICHOSIS SIMPLEX OF THE SCALP 2" EXACT [] synonym: "HYPT3" EXACT [] xref: MIM:613981 xref: MONDO:0013514 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110701 name: hypotrichosis 4 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of HR on chromosome 8p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19122663 "DO"] synonym: "HYPT4" EXACT [] synonym: "Marie Unna congenital hypotrichosis" EXACT [] synonym: "Marie Unna hereditary hypotrichosis" EXACT [] synonym: "Marie Unna hereditary hypotrichosis 1" EXACT [] synonym: "Marie Unna type hypotrichosis" EXACT [] synonym: "Marie Unna type hypotrichosis 1" EXACT [] synonym: "MUHH1" EXACT [] xref: MESH:C535912 xref: MESH:C567718 xref: MIM:146550 xref: MONDO:0100522 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110702 name: hypotrichosis 5 def: "A hypotrichosis that has_material_basis_in a mutation on chromosome 1p21.1-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16185270 "DO"] synonym: "HYPT5" EXACT [] synonym: "Marie Unna hereditary hypotrichosis 2" EXACT [] synonym: "MUHH2" EXACT [] xref: MESH:C567554 xref: MIM:612841 xref: MONDO:0013017 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110703 name: hypotrichosis 6 def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the DSG4 gene on chromosome 18q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12891384 "DO"] synonym: "HTL" EXACT [] synonym: "HYPT6" EXACT [] synonym: "LAH" EXACT [] synonym: "LAH1" EXACT [] synonym: "localized hypotrichosis, autosomal recessive" EXACT [] synonym: "localized hypotrichosis, autosomal recessive 1" EXACT [] synonym: "MONILETHRIX-LIKE HYPOTRICHOSIS" EXACT [] xref: MESH:C564312 xref: MIM:607903 xref: MONDO:0011932 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110704 name: hypotrichosis 7 def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the LIPH gene on chromosome 3q27.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20393562 "DO"] synonym: "alopecia universalis congenita, Mari type" EXACT [] synonym: "Hypotrichosis, Autosomal Recessive" BROAD [] synonym: "Hypotrichosis, Localized, Autosomal Recessive, 2" EXACT [] synonym: "HYPT7" EXACT [] synonym: "LAH2" EXACT [] synonym: "total hypotrichosis, Mari type" EXACT [] synonym: "total hyptrichosis, Mari type" EXACT [] synonym: "woolly hair, autosomal recessive 2, with or without hypotrichosis" BROAD [] xref: EFO:0009163 xref: MESH:C536973 xref: MIM:604379 xref: MONDO:0011452 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis is_a: DOID:987 ! alopecia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0110705 name: hypotrichosis 8 def: "A hypotrichosis has_material_basis_in a autosomal recessive mutation of the LPAR6 gene on chromosome 13q14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18297072 "DO"] synonym: "ARWH1" NARROW [] synonym: "autosomal recessive woolly hair 1, with or without hypotrichosis" NARROW [] synonym: "HYPT8" EXACT [] synonym: "LAH3" EXACT [] synonym: "localized hypotrichosis, autosomal recessive 3" EXACT [] xref: MESH:C566950 xref: MIM:278150 xref: MONDO:0010206 xref: ORDO:55654 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110706 name: hypotrichosis 9 def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 10q11.23-q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20054564 "DO"] synonym: "HYPT9" EXACT [] xref: MIM:614237 xref: MONDO:0013649 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0110707 name: hypotrichosis 10 def: "A hypotrichosis that has_material_basis_in an autosomal recessive mutation on chromosome 7p22.3-p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20544222 "DO"] synonym: "HYPT10" EXACT [] xref: MIM:614238 xref: MONDO:0013650 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4535 ! hypotrichosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0110708 name: hypotrichosis 11 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the SNRPE gene on chromosome 1q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23246290 "DO"] synonym: "HYPT11" EXACT [] xref: MIM:615059 xref: MONDO:0014027 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110709 name: hypotrichosis 12 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the RPL21 gene on chromosome 13q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21412954 "DO"] synonym: "hypotrichosis type 12" EXACT [] synonym: "HYPT12" EXACT [] xref: MIM:615885 xref: MONDO:0014384 xref: ORDO:55654 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis created_by: rgd creation_date: 2017-04-27T00:00:00Z [Term] id: DOID:0110710 name: hypotrichosis 13 def: "A hypotrichosis that has_material_basis_in a autosomal dominant mutation of the KRT71 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22592156 "DO"] synonym: "hypotrichosis with woolly hair" EXACT [] synonym: "HYPT13" EXACT [] xref: MIM:615896 xref: MONDO:0014390 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4535 ! hypotrichosis created_by: rgd creation_date: 2017-04-27T00:00:00Z [Term] id: DOID:0110711 name: congenital hypotrichosis with juvenile macular dystrophy def: "A hypotrichosis that has_material_basis_in a autosomal recessive mutation of the CDH3 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11544476 "DO"] synonym: "CDH3-RELATED CONDITION" BROAD [] synonym: "HJMD" EXACT [] synonym: "hypotrichosis with cone-rod dystrophy" EXACT [] synonym: "hypotrichosis with juvenile macular dystrophy" EXACT [] synonym: "juvenile macular degeneration and hypotrichosis" EXACT [] synonym: "juvenile macular dystrophy and congenital hypotrichosis" EXACT [] xref: GARD:3066 xref: MESH:C537698 xref: MIM:601553 xref: MONDO:0011107 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:4448 ! macular degeneration is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0110712 name: Oguchi disease-1 def: "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous or compound heterozygous mutation in the SAG gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15234147 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7670478 "DO"] synonym: "congenital stationary night blindness Oguchi type 1" EXACT [] synonym: "CSNBO1" EXACT [] xref: MIM:258100 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0110713 name: Oguchi disease-2 def: "A congenital stationary night blindness characterized by congenital static night blindness, a golden or gray-white discoloration of the fundus that disappears in the dark-adapted state and typically normal function of all other visual functions that has_material_basis_in homozygous mutation in the GRK1 gene on chromosome 13q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7670478 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9020843 "DO"] synonym: "congenital stationary night blindness Oguchi type 2" EXACT [] synonym: "CSNBO2" EXACT [] xref: MIM:613411 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0110714 name: congenital stationary night blindness 1G alt_id: RDO:9001516 def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22190596 "DO"] synonym: "congenital stationary night blindness type 1G" EXACT [] synonym: "CSNB1G" EXACT [] xref: MIM:616389 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-03-30T00:00:00Z [Term] id: DOID:0110715 name: congenital stationary night blindness autosomal dominant 3 alt_id: MIM:610444 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the GNAT1 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8673138 "DO"] synonym: "CSNBAD3" EXACT [] synonym: "Nougaret type congenital stationary night blindness" EXACT [] xref: MESH:C566475 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110716 name: Warburg micro syndrome 1 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP1 gene on chromosome 2q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20512159 "DO"] synonym: "Micro Syndrome 1" EXACT [] synonym: "RAB3GAP1-RELATED CONDITION" BROAD [] synonym: "RAB3GAP1-RELATED DISORDER" BROAD [] synonym: "WARBM1" EXACT [] xref: MIM:600118 xref: MONDO:0010822 is_a: DOID:0060237 ! Warburg micro syndrome created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110717 name: Warburg micro syndrome 2 alt_id: RDO:9000855 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB3GAP2 gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20967465 "DO"] synonym: "MICRO SYNDROME 2" EXACT [] synonym: "WARBM2" EXACT [] xref: MIM:614225 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110718 name: Warburg micro syndrome 3 alt_id: RDO:9000856 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the RAB18 gene on chromosome 10p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15216543 "DO"] synonym: "MICRO SYNDROME 3" EXACT [] synonym: "WARBM3" EXACT [] xref: ICD10CM:Q87.0 xref: MIM:614222 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110719 name: Warburg micro syndrome 4 def: "A Warburg micro syndrome that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the TBC1D20 gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24239381 "DO"] synonym: "micro syndrome 4" EXACT [] synonym: "WARBM4" EXACT [] xref: MIM:615663 is_a: DOID:0060237 ! Warburg micro syndrome [Term] id: DOID:0110720 name: neuronal ceroid lipofuscinosis 4 def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal dominant inhetitance, onset of symptoms (psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline) in adulthood and has_material_basis_in heterozygous mutation in the DNAJC5 gene (611203) on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21820099 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22073189 "DO"] synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B" EXACT [] synonym: "autosomal dominant neuronal ceroid lipofuscinosis 4B (Kufs type)" EXACT [] synonym: "CLN4B" EXACT [] synonym: "CLN4B disease" EXACT [] synonym: "Kufs disease, autosomal dominant" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4B" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4 Parry type" EXACT [] xref: MIM:162350 xref: NCI:C128116 xref: ORDO:228343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110721 name: neuronal ceroid lipofuscinosis 1 def: "A neuronal ceroid lipofuscinosis that is characterized by variable age of onset of symptoms (progressive dementia, seizures, and progressive visual failure) and lipopigment pattern of granular osmiophilic deposits, and has_material_basis_in homozygous or compound heterozygous mutation in the PPT1 gene on chromosome 1p34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7637805 "DO"] synonym: "CLN1" EXACT [] synonym: "INCL" EXACT [] synonym: "infantile neuronal ceroid lipofuscinosis (INCL)" EXACT [] synonym: "neuronal ceroid lipofuscinosis 1, infantile" EXACT [] synonym: "neuronal ceroid lipofuscinosis 1, variable age of onset" EXACT [] synonym: "neuronal ceroid lipofuscinosis, infantile" EXACT [] synonym: "neuronal ceroid lipofuscinosis, infantile Finnish type" EXACT [] synonym: "PPT1-related condition" BROAD [] synonym: "Santavuori disease" EXACT [] synonym: "Santavuori-Haltia disease" EXACT [] xref: GARD:1219 xref: MESH:C537948 xref: MESH:C564953 xref: MIM:256730 xref: MONDO:0009744 xref: OMIA:001504 xref: ORDO:228329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110722 name: neuronal ceroid lipofuscinosis 7 def: "A neuronal ceroid lipofuscinosis that is characterized by late-infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and has_material_basis_in homozygous or compound heterozygous mutation in the MFSD8 gene on chromosome 4q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17564970 "DO"] synonym: "CLN7" EXACT [] xref: GARD:1220 xref: MESH:C563989 xref: MIM:610951 xref: MONDO:0012588 xref: OMIA:001962 xref: ORDO:228366 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110723 name: neuronal ceroid lipofuscinosis 8 alt_id: MIM:600143 alt_id: OMIA:001506 def: "A neuronal ceroid lipofuscinosis that is characterized by a late infantile onset of symptoms (seizures or motor impairment followed by mental regression, myoclonus, speech impairment, loss of vision, and personality disorders) and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in homozygous or compound heterozygous mutation in the CLN8 gene on chromosome 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15024724 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15074367 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO"] synonym: "CLN8" EXACT [] xref: MESH:C537952 xref: ORDO:228354 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110724 name: neuronal ceroid lipofuscinosis 8 northern epilepsy variant def: "A neuronal ceroid lipofuscinosis that is characterized by onset at 5 to 10 years of age of epilepsy followed by progressive mental retardation and a mixed combination of 'granular,' 'curvilinear,' and 'fingerprint' profile lipopigment patterns and has_material_basis_in a Finnish founder mutation in the CLN8 gene on chromosome 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8014963 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8743986 "DO"] synonym: "EPMR" EXACT [] synonym: "Northern epilepsy" EXACT [] synonym: "Northern epilepsy syndrome" EXACT [] synonym: "Northern epilepsy variant" EXACT [] synonym: "northern epilepsy variant, neuronal ceroid lipofuscinosis, Northern epilepsy variant" EXACT [] synonym: "progressive epilepsy-intellectual disability syndrome, Finnish type" EXACT [] synonym: "progressive epilepsy with mental retardation" EXACT [] synonym: "progressive epilepsy with mental retardation, northern epilepsy" EXACT [] xref: GARD:2163 xref: GARD:4010 xref: MIM:610003 xref: ORDO:1947 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0110725 name: neuronal ceroid lipofuscinosis 10 alt_id: MIM:610127 alt_id: OMIA:001505 def: "A neuronal ceroid lipofuscinosis that has_material_basis_in homozygous or compound heterozygous mutation in the CTSD gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16685649 "DO"] synonym: "cathepsin D deficiency" EXACT [] synonym: "Ceroid Lipofuscinosis, Neuronal, Cathepsin D-Deficient" EXACT [] synonym: "CLN10" EXACT [] synonym: "congenital neuronal ceroid lipofuscinosis" EXACT [] synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [] synonym: "NEURONAL CEROID LIPOFUSCINOSIS DUE TO CATHEPSIN D DEFICIENCY NEURONAL CEROID LIPOFUSCINOSIS, CONGENITAL" NARROW [] xref: GARD:1218 xref: MESH:C566438 xref: ORDO:228337 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110726 name: neuronal ceroid lipofuscinosis 2 alt_id: MIM:204500 alt_id: OMIA:001472 def: "A neuronal ceroid lipofuscinosis that is characterized by 'curvilinear' profile lipopigment pattern and has_material_basis_in homozygous or compound heterozygous mutation in the TPP1 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18684116 "DO"] synonym: "CLN2" EXACT [] synonym: "Jansky-Bielschowsky disease" EXACT [] synonym: "LINCL" RELATED [] synonym: "neuronal ceroid lipofuscinosis 2 variable age at onset" EXACT [] synonym: "NEURONAL CEROID LIPOFUSCINOSIS, LATE INFANTILE" RELATED [] synonym: "neuronal ceroid lipofuscinosis type 2" EXACT [] synonym: "TPP1-RELATED CONDITION" BROAD [] xref: GARD:3045 xref: MESH:C566857 xref: MONDO:0008769 xref: NCI:C85864 xref: ORDO:228349 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110727 name: neuronal ceroid lipofuscinosis 13 def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death and has_material_basis_in homozygous or compound heterozygous mutation in the CTSF gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23297359 "DO"] synonym: "CLN13" EXACT [] synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [] xref: ICD10CM:E75.4 xref: MIM:615362 xref: ORDO:352709 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110728 name: neuronal ceroid lipofuscinosis 5 def: "A neuronal ceroid lipofuscinosis that is characterized by lipopigment patterns with mixed combinations of 'granular,' 'curvilinear,' and 'fingerprint' profiles, progressive dementia, seizures, and progressive visual failure and has_material_basis_in homozygous or compound heterozygous mutation in the CLN5 gene on chromosome 13q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9662406 "DO"] synonym: "CLN5" EXACT [] synonym: "Finnish vLINCL" NARROW [] synonym: "neuronal ceroid lipofuscinosis 5, variable age at onset" EXACT [] synonym: "neuronal ceroid lipofuscinosis 5 variable age of onset" EXACT [] synonym: "neuronal ceroid lipofuscinosis, Finnish variant, late infantile" NARROW [] synonym: "vLINCL" BROAD [] xref: GARD:1223 xref: MESH:C575534 xref: MIM:256731 xref: MONDO:0009745 xref: OMIA:001482 xref: ORDO:228360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110729 name: neuronal ceroid lipofuscinosis 6A alt_id: MIM:601780 alt_id: OMIA:001443 def: "A neuronal ceroid lipofuscinosis that is characterized by progressive decline of neurologic function, including visual deterioration in most, cognitive impairment, loss of motor function, and seizures and has_material_basis_in homozygous mutation in the CLN6 gene on chromosome 15q21-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15996215 "DO"] synonym: "CLN6" EXACT [] synonym: "CLN6A" EXACT [] synonym: "neuronal ceroid lipofuscinosis 6" EXACT [] synonym: "neuronal ceroid lipofuscinosis 6 variable age of onset" EXACT [] synonym: "neuronal ceroid lipofuscinosis, late infantile variant" BROAD [] synonym: "vLINCL" BROAD [] xref: GARD:1224 xref: MESH:C566627 xref: ORDO:228363 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110730 name: neuronal ceroid lipofuscinosis 6B def: "A neuronal ceroid lipofuscinosis that is characterized by adult-onset of progressive myoclonus epilepsy, ataxia, loss of motor function, dysarthria, progressive dementia, and progressive cerebral and cerebellar atrophy on brain imaging and has_material_basis_in homozygous or compound heterozygous mutation in the CLN6 gene on chromosome 15q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21549341 "DO"] synonym: "CLN4A" EXACT [] synonym: "CLN6B" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4A" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4A (Kufs type), autosomal recessive" EXACT [] synonym: "neuronal ceroid lipofuscinosis 4A, autosomal recessive" EXACT [] xref: MIM:204300 xref: ORDO:228340 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110731 name: neuronal ceroid lipofuscinosis 3 def: "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11. (DO)" [https://ghr.nlm.nih.gov/condition/cln3-disease "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965709 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7553855 "DO"] synonym: "Batten disease" EXACT [] synonym: "Batten Spielmeyer Vogt disease" EXACT [] synonym: "CLN3" EXACT [] synonym: "CLN3-related neuronal ceroid lipofuscinoses" EXACT [] synonym: "CLN3-related neuronal ceroid lipofuscinosis" EXACT [] synonym: "JNCL" EXACT [] synonym: "Juvenile Batten Disease" EXACT [] synonym: "Juvenile Batten Diseases" EXACT [] synonym: "Juvenile Neuronal Ceroid Lipofuscinosis" EXACT [] synonym: "juvenile neuronal ceroid lipofuscinosis 3" EXACT [] synonym: "neuronal ceroid lipofuscinosis, juvenile type" EXACT [] synonym: "protracted neuronal ceroid lipofuscinosis 3" NARROW [] synonym: "Spielmeyer Sjogren disease" EXACT [] synonym: "Spielmeyer-Sjogren diseases" EXACT [] synonym: "Vogt-Spielmeyer disease" EXACT [] synonym: "Vogt-Spielmeyer diseases" EXACT [] xref: GARD:5897 xref: MIM:204200 xref: MONDO:0008767 xref: NCI:C61258 xref: ORDO:228346 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis created_by: rgd creation_date: 2016-09-06T00:00:00Z [Term] id: DOID:0110732 name: neuronal ceroid lipofuscinosis 11 def: "A neuronal ceroid lipofuscinosis that is characterized by autosomal recessive inheritance with rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy and has_material_basis_in homozygous mutation in the GRN gene on chromosome 17q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22608501 "DO"] synonym: "CLN11" EXACT [] xref: MIM:614706 xref: MONDO:0013866 xref: ORDO:314629 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110733 name: neuronal ceroid lipofuscinosis 9 alt_id: MIM:609055 def: "A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive vision loss, progressive ataxia and seizures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15349861 "DO"] synonym: "CLN9" EXACT [] xref: GARD:6618 xref: MESH:C537953 xref: ORDO:228357 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14503 ! neuronal ceroid lipofuscinosis [Term] id: DOID:0110734 name: neurodegeneration with brain iron accumulation alt_id: OMIA:002105 alt_id: RDO:0004395 def: "A neurodegenerative disease characterized by progressive iron accumulation in the basal ganglia and other regions of the brain, resulting in extrapyramidal movements, such as parkinsonism and dystonia. (DO)" [https://rarediseases.info.nih.gov/diseases/11899/index "DO", https://www.ncbi.nlm.nih.gov/pubmed/18981035 "DO", https://www.ninds.nih.gov/health-information/disorders/neurodegeneration-brain-iron-accumulation "DO"] synonym: "Iron Accumulation In Brain" RELATED [] synonym: "NBIA" EXACT [] synonym: "Neuroaxonal dystrophy, PLA2G6-related" NARROW [] synonym: "Neurodegeneration with brain iron accumulation (NBIA)" EXACT [] synonym: "Neurodegeneration with brain iron accumulation 1, atypical" NARROW [] xref: GARD:11899 xref: MESH:C538421 xref: MIM:PS234200 xref: ORDO:385 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:2351 ! iron metabolism disease is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:0110735 name: neurodegeneration with brain iron accumulation 2A def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1 and is characterized by onset in the first 2 years of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18443314 "DO"] synonym: "INAD" EXACT [] synonym: "INAD1" EXACT [] synonym: "infantile neuroaxonal dystrophy" EXACT [] synonym: "Infantile neuroaxonal dystrophy 1" EXACT [] synonym: "NBIA2A" EXACT [] synonym: "neurodegeneration, PLA2G6-associated" EXACT [] synonym: "PLAN" EXACT [] synonym: "Seitelberger's disease" EXACT [] synonym: "Seitelberger disease" EXACT [] synonym: "Seitelbergers disease" EXACT [] xref: GARD:2751 xref: MIM:256600 xref: NCI:C202073 xref: NCI:C84927 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110736 name: neurodegeneration with brain iron accumulation 2B alt_id: MIM:610217 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PLA2G6 gene on chromosome 22q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18799783 "DO"] synonym: "atypical neuroaxonal dystrophy" EXACT [] synonym: "NBIA2B" EXACT [] synonym: "NEUROAXONAL DYSTROPHY, ATYPICAL KARAK SYNDROME" NARROW [] synonym: "Neurodegeneration With Brain Iron Accumulation, PLA2G6-Related" EXACT [] xref: MESH:C565699 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110737 name: neurodegeneration with brain iron accumulation 3 alt_id: MIM:606159 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal dominant inheritance of mutation in the FTL gene on chromosome 19q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16116125 "DO"] synonym: "adult basal ganglia disease" EXACT [] synonym: "basal ganglia disease, adult-onset" EXACT [] synonym: "ferritin-related neurodegeneration" EXACT [] synonym: "hereditary ferritinopathy" EXACT [] synonym: "NBIA3" EXACT [] synonym: "neuroferritinopathy" EXACT [] synonym: "neuroferritinopathy; basal ganglia disease, adult-onset" EXACT [] xref: MESH:C548080 xref: ORDO:157846 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110738 name: neurodegeneration with brain iron accumulation 4 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the C19orf12 gene on chromosome 19q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23269600 "DO"] synonym: "MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION" EXACT [] synonym: "MPAN" EXACT [] synonym: "NBIA4" EXACT [] synonym: "NBIA due to C19orf12 mutation" EXACT [] synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT [] synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [] xref: MIM:614298 xref: NCI:C175707 xref: ORDO:289560 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110739 name: neurodegeneration with brain iron accumulation 5 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in X-linked dominant inheritance of mutation in the WDR45 gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176820 "DO"] synonym: "BETA-PROPELLER PROTEIN-ASSOCIATED NEURODEGENERATION" EXACT [] synonym: "BPAN" EXACT [] synonym: "NBIA5" EXACT [] synonym: "SENDA" EXACT [] synonym: "STATIC ENCEPHALOPATHY OF CHILDHOOD WITH NEURODEGENERATION IN ADULTHOOD" EXACT [] xref: MIM:300894 xref: NCI:C175210 xref: ORDO:329284 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110740 name: neurodegeneration with brain iron accumulation 6 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the COASY gene on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24360804 "DO"] synonym: "COASY protein-associated neurodegeneration" EXACT [] synonym: "COASY-RELATED CONDITION" BROAD [] synonym: "CoPAN" EXACT [] synonym: "NBIA6" EXACT [] synonym: "Neurodegeneration with brain iron accumulation due to COASY mutation" EXACT [] xref: ICD10CM:G23.0 xref: MIM:615643 xref: MONDO:0014290 xref: ORDO:397725 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation [Term] id: DOID:0110741 name: type 1 diabetes mellitus 2 alt_id: MIM:125852 def: "A type 1 diabetes mellitus that has_material_basis_in autosomal dominant inheritance of mutation of the INS gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6363172 "DO"] synonym: "IDDM2" EXACT [] synonym: "insulin-dependent diabetes mellitus 2" EXACT [] synonym: "T1D2" EXACT [] xref: MESH:C565100 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110742 name: type 1 diabetes mellitus 3 alt_id: MIM:600318 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7842018 "DO"] synonym: "IDDM3" EXACT [] synonym: "insulin-dependent diabetes mellitus 3" EXACT [] synonym: "T1D3" EXACT [] xref: MESH:C563960 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110743 name: type 1 diabetes mellitus 4 alt_id: MIM:600319 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9683605 "DO"] synonym: "IDDM4" EXACT [] synonym: "insulin-dependent diabetes mellitus 4" EXACT [] synonym: "T1D4" EXACT [] xref: MESH:C563959 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110744 name: type 1 diabetes mellitus 5 alt_id: MIM:600320 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the SUMO4 gene on chromosome 6q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15247916 "DO"] synonym: "IDDM5" EXACT [] synonym: "insulin-dependent diabetes mellitus 5" EXACT [] synonym: "T1D5" EXACT [] xref: MESH:C563958 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110745 name: type 1 diabetes mellitus 6 alt_id: MIM:601941 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9215667 "DO"] synonym: "AITD5" NARROW [] synonym: "autoimmune thyroid disease, susceptibility to, 5" NARROW [] synonym: "IDDM6" EXACT [] synonym: "insulin-dependent diabetes mellitus 6" EXACT [] synonym: "T1D6" EXACT [] xref: MESH:C566603 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110746 name: type 1 diabetes mellitus 7 alt_id: MIM:600321 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7704030 "DO"] synonym: "IDDM7" EXACT [] synonym: "insulin-dependent diabetes mellitus 7" EXACT [] synonym: "T1D7" EXACT [] xref: MESH:C563957 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110747 name: type 1 diabetes mellitus 8 alt_id: MIM:600883 def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 6q25-q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7573053 "DO"] synonym: "IDDM8" EXACT [] synonym: "insulin-dependent diabetes mellitus 8" EXACT [] synonym: "T1D8" EXACT [] xref: MESH:C563433 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110749 name: type 1 diabetes mellitus 10 alt_id: MIM:601942 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the IL2RA gene on chromosome 10p15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8072542 "DO"] synonym: "IDDM10" EXACT [] synonym: "insulin-dependent diabetes mellitus 10" EXACT [] synonym: "T1D10" EXACT [] xref: MESH:C566602 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110750 name: type 1 diabetes mellitus 11 alt_id: MIM:601208 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 14q24.3-q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8617492 "DO"] synonym: "IDDM11" EXACT [] synonym: "insulin-dependent diabetes mellitus 11" EXACT [] synonym: "T1D11" EXACT [] xref: MESH:C563371 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110751 name: type 1 diabetes mellitus 12 alt_id: MIM:601388 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the CTLA4 gene on chromosome 2q33.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8817351 "DO"] synonym: "IDDM12" EXACT [] synonym: "insulin-dependent diabetes mellitus 12" EXACT [] synonym: "T1D12" EXACT [] xref: MESH:C563326 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110752 name: type 1 diabetes mellitus 13 alt_id: MIM:601318 def: "A type 1 diabetes mellituss that has_material_basis_in mutation of the locus at chromosome 2q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8650584 "DO"] synonym: "IDDM13" EXACT [] synonym: "insulin-dependent diabetes mellitus 13" EXACT [] synonym: "T1D13" EXACT [] xref: MESH:C563352 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110753 name: type 1 diabetes mellitus 15 alt_id: MIM:601666 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8981961 "DO"] synonym: "IDDM15" EXACT [] synonym: "insulin-dependent diabetes mellitus 15" EXACT [] synonym: "T1D15" EXACT [] xref: MESH:C566645 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110754 name: type 1 diabetes mellitus 17 alt_id: MIM:603266 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9788970 "DO"] synonym: "IDDM17" EXACT [] synonym: "insulin-dependent diabetes mellitus 17" EXACT [] synonym: "T1D17" EXACT [] xref: MESH:C566395 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110755 name: type 1 diabetes mellitus 18 alt_id: MIM:605598 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 5q31.1-q33.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11175794 "DO"] synonym: "IDDM18" EXACT [] synonym: "insulin-dependent diabetes mellitus 18" EXACT [] synonym: "T1D18" EXACT [] xref: ICD10CM:E10 xref: MESH:C565315 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110756 name: type 1 diabetes mellitus 19 alt_id: MIM:610155 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 2q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16699517 "DO"] synonym: "IDDM19" EXACT [] synonym: "insulin-dependent diabetes mellitus 19" EXACT [] synonym: "T1D19" EXACT [] xref: MESH:C565715 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110757 name: type 1 diabetes mellitus 20 alt_id: MIM:612520 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the HNF1A gene on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9313763 "DO"] synonym: "IDDM20" EXACT [] synonym: "insulin-dependent diabetes mellitus 20" EXACT [] synonym: "T1D20" EXACT [] xref: MESH:C567286 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110758 name: type 1 diabetes mellitus 21 alt_id: MIM:612521 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 6q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19073967 "DO"] synonym: "IDDM21" EXACT [] synonym: "insulin-dependent diabetes mellitus 21" EXACT [] synonym: "T1D21" EXACT [] xref: MESH:C567285 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110759 name: type 1 diabetes mellitus 22 alt_id: MIM:612522 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the CCR5 gene on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19073967 "DO"] synonym: "IDDM22" EXACT [] synonym: "insulin-dependent diabetes mellitus 22" EXACT [] synonym: "T1D22" EXACT [] xref: MESH:C567284 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110760 name: type 1 diabetes mellitus 23 alt_id: MIM:612622 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8072542 "DO"] synonym: "IDDM23" EXACT [] synonym: "insulin-dependent diabetes mellitus 23" EXACT [] synonym: "T1D23" EXACT [] xref: MESH:C567233 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110761 name: type 1 diabetes mellitus 24 alt_id: MIM:613006 def: "A type 1 diabetes mellitus that has_material_basis_in mutation of the locus at chromosome 10q23.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19430480 "DO"] synonym: "IDDM24" EXACT [] synonym: "insulin-dependent diabetes mellitus 24" EXACT [] synonym: "T1D24" EXACT [] xref: MESH:C567818 is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:0110763 name: hereditary spastic paraplegia 10 alt_id: MIM:604187 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF5A gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12355402 "DO"] synonym: "autosomal dominant spastic paraplegia" BROAD [] synonym: "autosomal dominant spastic paraplegia 10" EXACT [] synonym: "autosomal dominant spastic paraplegia type 10" EXACT [] synonym: "spastic paraplegia 10 with or without peripheral neuropathy" EXACT [] synonym: "SPG10" EXACT [] xref: GARD:9590 xref: MESH:C537482 xref: ORDO:100991 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110764 name: hereditary spastic paraplegia 11 alt_id: MESH:C538335 alt_id: MIM:604360 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the SPG11 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17322883 "DO"] synonym: "autosomal recessive spastic paraplegia 11" EXACT [] synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT [] synonym: "autosomal recessive spastic paraplegia type 11" EXACT [] synonym: "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" EXACT [] synonym: "GAIT DISTURBANCE" NARROW [] synonym: "Hsp-Tcc" EXACT [] synonym: "Nakamura-Osame syndrome" EXACT [] synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndrome" EXACT [] synonym: "spastic paraplegia, mental retardation and thin corpus callosum" EXACT [] synonym: "spastic paraplegia type 11" EXACT [] synonym: "SPG11" EXACT [] synonym: "SPG11-related hereditary spastic paraplegia with thin corpus callosum" EXACT [] xref: GARD:4919 xref: MESH:C537483 xref: ORDO:2822 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:0110765 name: hereditary spastic paraplegia 12 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the RTN2 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22232211 "DO"] synonym: "autosomal dominant spastic paraplegia 12" EXACT [] synonym: "autosomal dominant spastic paraplegia type 12" EXACT [] synonym: "SPG12" EXACT [] xref: GARD:9586 xref: MESH:C537484 xref: MIM:604805 xref: MONDO:0011489 xref: ORDO:100993 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110766 name: hereditary spastic paraplegia 13 alt_id: MIM:605280 alt_id: RDO:0003331 def: "A hereditary spastic paraplegia that is characterized by a pure form of the disease with late onset and has_material_basis_in mutation in the HSPD1 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11898127 "DO"] synonym: "autosomal dominant spastic paraplegia 13" EXACT [] synonym: "SPG13" EXACT [] xref: GARD:9616 xref: MESH:C537485 xref: ORDO:100994 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110767 name: hereditary spastic paraplegia 14 alt_id: MIM:605229 alt_id: RDO:0003332 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 3q27-q28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10877981 "DO"] synonym: "autosomal recessive spastic paraplegia 14" EXACT [] synonym: "autosomal recessive spastic paraplegia type 14" EXACT [] synonym: "SPG14" EXACT [] xref: GARD:9589 xref: MESH:C537486 xref: ORDO:100995 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110768 name: hereditary spastic paraplegia 15 alt_id: MIM:270700 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE26 gene on chromosome 14q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18394578 "DO"] synonym: "autosomal recessive spastic paraplegia 15" EXACT [] synonym: "autosomal recessive spastic paraplegia type 15" EXACT [] synonym: "hereditary spastic paraparesis type 15" EXACT [] synonym: "Kjellin syndrome" EXACT [] synonym: "recessive spastic paraplegia with retinal degeneration" EXACT [] synonym: "spastic paraplegia 15" EXACT [] synonym: "spastic paraplegia and retinal degeneration" EXACT [] synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT [] synonym: "SPG15" EXACT [] xref: GARD:9581 xref: MESH:C536642 xref: ORDO:100996 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0110769 name: hereditary spastic paraplegia 16 alt_id: MIM:300266 alt_id: RDO:0002283 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9254866 "DO"] synonym: "SPG16" EXACT [] synonym: "X-linked spastic paraplegia 16" EXACT [] synonym: "X-linked spastic paraplegia type 16" EXACT [] xref: GARD:9585 xref: MESH:C536643 xref: ORDO:100997 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110770 name: hereditary spastic paraplegia 17 alt_id: MIM:270685 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the BSCL2 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14981520 "DO"] synonym: "autosomal dominant spastic paraplegia 17" EXACT [] synonym: "autosomal dominant spastic paraplegia type 17" EXACT [] synonym: "dHMN5B" RELATED [] synonym: "distal hereditary motor neuropathy type 5B" RELATED [] synonym: "Silver spastic paraplegia syndrome" EXACT [] synonym: "Silver syndrome" EXACT [] synonym: "spastic paraplegia 17" EXACT [] synonym: "spastic paraplegia-amyotrophy of hands and feet" EXACT [] synonym: "spastic paraplegia with amyotrophy of hands and feet" EXACT [] synonym: "SPG17" EXACT [] xref: GARD:4219 xref: MESH:C536644 xref: ORDO:100998 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110771 name: hereditary spastic paraplegia 18 alt_id: MIM:611225 alt_id: MIM:620512 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN2 gene on chromosome 8p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21330303 "DO"] synonym: "autosomal dominant spastic paraplegia 18A" NARROW [] synonym: "autosomal recessive spastic paraplegia 18" EXACT [] synonym: "autosomal recessive spastic paraplegia 18B" NARROW [] synonym: "autosomal recessive spastic paraplegia type 18" EXACT [] synonym: "IDMDC" EXACT [] synonym: "intellectual disability, motor dysfunction, and joint contractures" EXACT [] synonym: "SPG18" EXACT [] synonym: "SPG18A" NARROW [] synonym: "SPG18B" NARROW [] xref: GARD:4922 xref: MESH:C567628 xref: ORDO:209951 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9006836 ! Contracture [Term] id: DOID:0110772 name: hereditary spastic paraplegia 19 alt_id: MIM:607152 alt_id: RDO:0002569 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 9q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12112072 "DO"] synonym: "autosomal dominant spastic paraplegia 19" EXACT [] synonym: "autosomal dominant spastic paraplegia type 19" EXACT [] synonym: "SPG19" EXACT [] xref: GARD:9588 xref: MESH:C536856 xref: ORDO:100999 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110773 name: hereditary spastic paraplegia 2 alt_id: MIM:312920 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8012387 "DO"] synonym: "spastic paraplegia 2" EXACT [] synonym: "spastic paraplegia type 2" EXACT [] synonym: "SPG2" EXACT [] synonym: "SPPX2" EXACT [] synonym: "X-linked spastic paraplegia 2" EXACT [] xref: GARD:4923 xref: MESH:C536857 xref: ORDO:99015 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110774 name: hereditary spastic paraplegia 23 alt_id: MIM:270750 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1q24-q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14681889 "DO"] synonym: "Abdallat Davis Farrage syndrome" EXACT [] synonym: "Abdallat syndrome" EXACT [] synonym: "DSTYK-RELATED CONDITION" BROAD [] synonym: "Lison syndrome" EXACT [] synonym: "spastic paraparesis, vitiligo, premature graying, characteristic facies" EXACT [] synonym: "Spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome" EXACT [] synonym: "spastic paraplegia 23" EXACT [] synonym: "spastic paraplegia and pigmentary abnormalities" EXACT [] synonym: "spastic paraplegia, vitiligo, premature graying and characteristic facies" EXACT [] synonym: "spastic paraplegia with pigmentary abnormalities" EXACT [] synonym: "SPG23" EXACT [] xref: GARD:336 xref: MESH:C536859 xref: ORDO:101003 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12306 ! vitiligo is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9001487 ! Facies [Term] id: DOID:0110775 name: hereditary spastic paraplegia 24 alt_id: MESH:C564375 alt_id: MIM:607584 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12499481 "DO"] synonym: "autosomal recessive spastic paraplegia 24" EXACT [] synonym: "autosomal recessive spastic paraplegia type 24" EXACT [] synonym: "SPG24" EXACT [] xref: GARD:9296 xref: MESH:C536860 xref: ORDO:101004 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9008681 ! Deafness [Term] id: DOID:0110776 name: hereditary spastic paraplegia 25 alt_id: MIM:608220 alt_id: RDO:0002574 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 6q23-q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12070243 "DO"] synonym: "autosomal recessive spastic paraplegia 25" EXACT [] synonym: "autosomal recessive spastic paraplegia type 25" EXACT [] synonym: "Disc Herniation With Spastic Paraplegia, Autosomal Recessive" EXACT [] synonym: "SPG25" EXACT [] synonym: "Spinal disc herniation with autosomal recessive spastic paraplegia" EXACT [] xref: GARD:9582 xref: MESH:C536861 xref: ORDO:101005 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9006086 ! Intervertebral Disc Displacement [Term] id: DOID:0110777 name: hereditary spastic paraplegia 26 alt_id: MIM:609195 alt_id: RDO:0002575 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the B4GALNT1 gene on chromosome 12q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23746551 "DO"] synonym: "autosomal recessive spastic paraplegia 26" EXACT [] synonym: "autosomal recessive spastic paraplegia type 26" EXACT [] synonym: "GM2 synthase deficiency" EXACT [] synonym: "SPG26" EXACT [] xref: GARD:9587 xref: MESH:C536862 xref: ORDO:101006 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110778 name: hereditary spastic paraplegia 27 alt_id: MIM:609041 alt_id: RDO:0012972 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 10q22.1-q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15455396 "DO"] synonym: "autosomal recessive spastic paraplegia 27" EXACT [] synonym: "autosomal recessive spastic paraplegia type 27" EXACT [] synonym: "SPG27" EXACT [] xref: MESH:C563807 xref: ORDO:101007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110779 name: hereditary spastic paraplegia 28 alt_id: MIM:609340 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD1 gene on chromosome 14q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176821 "DO"] synonym: "autosomal recessive spastic paraplegia 28" EXACT [] synonym: "autosomal recessive spastic paraplegia type 28" EXACT [] synonym: "SPG28" EXACT [] xref: MESH:C563732 xref: ORDO:101008 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110780 name: hereditary spastic paraplegia 29 alt_id: MIM:609727 alt_id: RDO:0002576 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 1p31.1-p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16130112 "DO"] synonym: "autosomal dominant spastic paraplegia 29" EXACT [] synonym: "SPG29" EXACT [] xref: GARD:9729 xref: MESH:C536863 xref: ORDO:101009 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110781 name: hereditary spastic paraplegia 30 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIF1A gene on chromosome 2q37. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31488895/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21487076 "DO"] synonym: "autosomal dominant spastic paraplegia 30" NARROW [] synonym: "autosomal recessive spastic paraplegia 30" NARROW [] synonym: "autosomal spastic paraplegia type 30" EXACT [] synonym: "SPG30" EXACT [] xref: ORDO:101010 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110782 name: hereditary spastic paraplegia 31 alt_id: MIM:610250 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the REEP1 gene on chromosome 2p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16826527 "DO"] synonym: "autosomal dominant spastic paraplegia 31" EXACT [] synonym: "autosomal dominant spastic paraplegia type 31" EXACT [] synonym: "SPG31" EXACT [] xref: GARD:10817 xref: MESH:C565210 xref: ORDO:101011 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110783 name: hereditary spastic paraplegia 32 alt_id: MIM:611252 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 14q12-q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17515546 "DO"] synonym: "autosomal recessive spastic paraplegia 32" EXACT [] synonym: "autosomal recessive spastic paraplegia type 32" EXACT [] synonym: "SPG32" EXACT [] xref: GARD:12749 xref: MESH:C566983 xref: ORDO:171622 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110784 name: hereditary spastic paraplegia 33 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ZFYVE27 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16826525 "DO"] synonym: "autosomal dominant spastic paraplegia 33" EXACT [] synonym: "SPASTIC TETRAPARESIS" NARROW [] synonym: "SPG33" EXACT [] xref: MESH:C565214 xref: MIM:610244 xref: MONDO:0012448 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110785 name: hereditary spastic paraplegia 34 alt_id: MIM:300750 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region Xq24-q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12210342 "DO"] synonym: "SPG34" EXACT [] synonym: "X-linked spastic paraplegia 34" EXACT [] synonym: "X-linked spastic paraplegia type 34" EXACT [] xref: MESH:C567465 xref: ORDO:171607 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110786 name: hereditary spastic paraplegia 35 alt_id: MIM:612319 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the FA2H gene on chromosome 16q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19068277 "DO"] synonym: "autosomal recessive spastic paraplegia 35" EXACT [] synonym: "autosomal recessive spastic paraplegia 35, with or without neurodegeneration" EXACT [] synonym: "autosomal recessive spastic paraplegia type 35" EXACT [] synonym: "dysmyelinating leukodystrophy and spastic paraparesis" EXACT [] synonym: "dysmyelinating leukodystrophy and spastic paraparesis with or without dystonia" EXACT [] synonym: "FAHN" EXACT [] synonym: "Fatty Acid Hydroxylase-Associated Neurodegeneration" EXACT [] synonym: "spastic paraplegia 35" EXACT [] synonym: "spastic paraplegia type 35" EXACT [] synonym: "SPG35" EXACT [] xref: MESH:C567311 xref: MESH:C580102 xref: NCI:C188989 xref: ORDO:171629 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110787 name: hereditary spastic paraplegia 36 alt_id: MIM:613096 alt_id: RDO:0012081 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 12q23-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19357379 "DO"] synonym: "autosomal dominant spastic paraplegia 36" EXACT [] synonym: "autosomal dominant spastic paraplegia type 36" EXACT [] synonym: "Spg36" EXACT [] xref: MESH:C567930 xref: ORDO:320365 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110788 name: hereditary spastic paraplegia 37 alt_id: MIM:611945 alt_id: RDO:0012082 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 8p21.1-q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17605047 "DO"] synonym: "autosomal dominant spastic paraplegia 37" EXACT [] synonym: "autosomal dominant spastic paraplegia type 37" EXACT [] synonym: "SPG37" EXACT [] xref: MESH:C567931 xref: ORDO:171612 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110789 name: hereditary spastic paraplegia 38 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 4p16-p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18401025 "DO"] synonym: "autosomal dominant spastic paraplegia 38" EXACT [] synonym: "autosomal dominant spastic paraplegia type 38" EXACT [] synonym: "SPG38" EXACT [] xref: MESH:C567349 xref: MIM:612335 xref: MONDO:0012867 xref: ORDO:171617 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110790 name: hereditary spastic paraplegia 39 alt_id: MIM:612020 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the PNPLA6 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18313024 "DO"] synonym: "autosomal recessive spastic paraplegia 39" EXACT [] synonym: "autosomal recessive spastic paraplegia type 39" EXACT [] synonym: "NTEMND" EXACT [] synonym: "NTE-related motor neuron disorder" EXACT [] synonym: "spastic paraplegia 39" EXACT [] synonym: "spastic paraplegia due to neuropathy target esterase mutation" EXACT [] synonym: "spastic paraplegia due to NTE mutation" EXACT [] synonym: "SPG39" EXACT [] xref: GARD:4924 xref: MESH:C567433 xref: ORDO:139480 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110791 name: hereditary spastic paraplegia 3A alt_id: MIM:182600 def: "A hereditary spastic paraplegia that is characterized by lower limb weakness and spasticity that is generally non-progressive or extremely slow and has_material_basis_in mutation in the ATL1 gene on chromosome 14q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11685207 "DO"] synonym: "autosomal dominant familial spastic paraplegia 1" EXACT [] synonym: "autosomal dominant spastic paraplegia 3" EXACT [] synonym: "autosomal dominant spastic paraplegia type 3" EXACT [] synonym: "FSP1" EXACT [] synonym: "spastic paraplegia 3" EXACT [] synonym: "spastic paraplegia 3A" EXACT [] synonym: "spastic paraplegia type 3A" EXACT [] synonym: "SPG3" EXACT [] synonym: "SPG3A" EXACT [] synonym: "Strumpell disease" EXACT [] xref: GARD:5041 xref: MESH:C536864 xref: NCI:C142893 xref: ORDO:100984 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110792 name: hereditary spastic paraplegia 4 alt_id: MIM:182601 def: "A hereditary spastic paraplegia that is characterized by slowly progressive muscle weakness and spasticity and has_material_basis_in mutation in the SPAST gene on chromosome 2p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9302257 "DO"] synonym: "autosomal dominant spastic paraplegia 4" EXACT [] synonym: "autosomal dominant spastic paraplegia type 4" EXACT [] synonym: "familial spastic paraplegia autosomal dominant 2" EXACT [] synonym: "FSP2" EXACT [] synonym: "spastic paraplegia 4" EXACT [] synonym: "spastic paraplegia 4, modifier of" RELATED [] synonym: "spastic paraplegia type 4" EXACT [] synonym: "SPG4" EXACT [] xref: MESH:C536865 xref: MESH:C580456 xref: NCI:C129981 xref: ORDO:100985 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110793 name: hereditary spastic paraplegia 41 alt_id: RDO:0009824 def: "A hereditary spastic paraplegia that has_material_basis_in variation in the chromosome region 11p14.1-p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18364116 "DO"] synonym: "autosomal dominant spastic paraplegia 41" EXACT [] synonym: "autosomal dominant spastic paraplegia type 41" EXACT [] synonym: "SPG41" EXACT [] xref: MIM:613364 xref: ORDO:320355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110794 name: hereditary spastic paraplegia 42 alt_id: MIM:612539 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the SLC33A1 gene on chromosome 3q25.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19061983 "DO"] synonym: "autosomal dominant spastic paraplegia 42" EXACT [] synonym: "autosomal dominant spastic paraplegia type 42" EXACT [] synonym: "SPG42" EXACT [] xref: MESH:C567262 xref: ORDO:171863 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110795 name: hereditary spastic paraplegia 43 alt_id: RDO:9001077 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the C19ORF12 gene on chromosome 19q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23857908 "DO"] synonym: "autosomal recessive spastic paraplegia 43" EXACT [] synonym: "autosomal recessive spastic paraplegia type 43" EXACT [] synonym: "SPG43" EXACT [] xref: MIM:615043 xref: ORDO:320370 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110796 name: hereditary spastic paraplegia 44 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the GJC2 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19056803 "DO"] synonym: "autosomal recessive spastic paraplegia 44" EXACT [] synonym: "spastic paraplegia 44" EXACT [] synonym: "SPG44" EXACT [] xref: MESH:C567707 xref: MIM:613206 xref: MONDO:0013179 xref: ORDO:320401 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110797 name: hereditary spastic paraplegia 45 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the NT5C2 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 45" EXACT [] synonym: "autosomal recessive spastic paraplegia type 45" EXACT [] synonym: "autosomal recessive spastic paraplegia type 65" EXACT [] synonym: "SPG45" EXACT [] synonym: "SPG65" EXACT [] xref: MIM:613162 xref: ORDO:320396 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110798 name: hereditary spastic paraplegia 46 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the GBA2 gene on chromosome 9p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23332916 "DO"] synonym: "autosomal recessive spastic paraplegia 46" EXACT [] synonym: "autosomal recessive spastic paraplegia type 46" EXACT [] synonym: "SPG46" EXACT [] xref: MIM:614409 xref: ORDO:320391 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110799 name: hereditary spastic paraplegia 47 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4B1 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21620353 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22290197 "DO"] synonym: "AP4-RELATED INTELLECTUAL DISABILITY AND SPASTIC PARAPLEGIA" EXACT [] synonym: "autosomal recessive spastic paraplegia 47" EXACT [] synonym: "CPSQ5" EXACT [] synonym: "spastic quadriplegic cerebral palsy 5" EXACT [] synonym: "SPG47" EXACT [] xref: MIM:614066 xref: ORDO:280763 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110800 name: hereditary spastic paraplegia 48 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP5Z1 gene on chromosome 7p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20613862 "DO"] synonym: "autosomal recessive spastic paraplegia 48" EXACT [] synonym: "autosomal recessive spastic paraplegia type 48" EXACT [] synonym: "spastic paraplegia 48" EXACT [] synonym: "SPG48" EXACT [] xref: MIM:613647 xref: ORDO:306511 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110801 name: hereditary spastic paraplegia 49 alt_id: OMIA:001975 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the TECPR2 gene on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176824 "DO"] synonym: "autosomal recessive spastic paraplegia 49" EXACT [] synonym: "autosomal recessive spastic paraplegia type 49" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type IX, with developmental delay" EXACT [] synonym: "HSAN9" EXACT [] synonym: "INHERITED SPASTIC PARESIS" EXACT [] synonym: "SPG49" EXACT [] xref: MIM:615031 xref: ORDO:320385 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110802 name: hereditary spastic paraplegia 50 alt_id: MIM:612936 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4M1 gene on chromosome 7q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK535153/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/19559397 "DO"] synonym: "adaptor protein complex 4 deficiency" EXACT [] synonym: "AP-4-associated hereditary spastic paraplegia" EXACT [] synonym: "AP-4 deficiency syndrome" EXACT [] synonym: "autosomal recessive spastic paraplegia 50" EXACT [] synonym: "SPG50" EXACT [] xref: MESH:C567858 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110803 name: hereditary spastic paraplegia 51 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4E1 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20972249 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21620353 "DO"] synonym: "AP4E1-RELATED CONDITION" BROAD [] synonym: "autosomal dominant spastic paraplegia 51" EXACT [] synonym: "CPSQ4" EXACT [] synonym: "spastic quadriplegic cerebral palsy 4" EXACT [] synonym: "SPG51" EXACT [] xref: GARD:10999 xref: MIM:613744 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110804 name: hereditary spastic paraplegia 52 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AP4S1 gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21620353 "DO"] synonym: "autosomal recessive spastic paraplegia 52" EXACT [] synonym: "Cerebral Palsy, Spastic Quadriplegic, 6" EXACT [] synonym: "CPSQ6" EXACT [] synonym: "SPG52" EXACT [] xref: MIM:614067 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110805 name: hereditary spastic paraplegia 53 alt_id: RDO:9001082 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the VPS37A gene on chromosome 8p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22717650 "DO"] synonym: "autosomal recessive spastic paraplegia 53" EXACT [] synonym: "autosomal recessive spastic paraplegia type 53" EXACT [] synonym: "SPG53" EXACT [] xref: MIM:614898 xref: ORDO:319199 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110806 name: hereditary spastic paraplegia 54 alt_id: RDO:9001083 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the DDHD2 gene on chromosome 8p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176823 "DO"] synonym: "autosomal recessive spastic paraplegia 54" EXACT [] synonym: "autosomal recessive spastic paraplegia type 54" EXACT [] synonym: "SPG54" EXACT [] xref: MIM:615033 xref: ORDO:320380 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110807 name: hereditary spastic paraplegia 55 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the C12ORF65 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23188110 "DO"] synonym: "autosomal recessive spastic paraplegia 55" EXACT [] synonym: "autosomal recessive spastic paraplegia type 55" EXACT [] synonym: "SPG55" EXACT [] xref: MIM:615035 xref: ORDO:320375 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110808 name: hereditary spastic paraplegia 56 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CYP2U1 gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23176821 "DO"] synonym: "autosomal recessive spastic paraplegia 56" EXACT [] synonym: "autosomal recessive spastic paraplegia-56 with or without pseudoxanthoma elasticum" EXACT [] synonym: "autosomal recessive spastic paraplegia type 56" EXACT [] synonym: "SPG56" EXACT [] xref: MIM:615030 xref: ORDO:320411 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110809 name: hereditary spastic paraplegia 57 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the TFG gene on chromosome 3q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23479643 "DO"] synonym: "autosomal recessive spastic paraplegia 57" EXACT [] synonym: "autosomal recessive spastic paraplegia type 57" EXACT [] synonym: "SPG57" EXACT [] xref: EFO:0009017 xref: MIM:615658 xref: ORDO:431329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110810 name: hereditary spastic paraplegia 5A def: "A hereditary spastic paraplegia that is characterized by progressive muscle weakness and paraplegia and has_material_basis_in mutation in the CYP7B1 gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252231 "DO"] synonym: "autosomal recessive spastic paraplegia 5A" EXACT [] synonym: "autosomal recessive spastic paraplegia type 5A" EXACT [] synonym: "SPG5A" EXACT [] xref: GARD:4926 xref: MESH:C536871 xref: MESH:C564811 xref: MIM:270800 xref: MONDO:0010047 xref: ORDO:100986 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110811 name: hereditary spastic paraplegia 6 alt_id: MIM:600363 def: "A hereditary spastic paraplegia that is usually characterized by rapidly progressive and severe spastic paraplegia and has_material_basis_in mutation in the NIPA1 gene on chromosome 15q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14508710 "DO"] synonym: "autosomal dominant familial spastic paraplegia type 3" EXACT [] synonym: "autosomal dominant spastic paraplegia 6" EXACT [] synonym: "autosomal dominant spastic paraplegia type 6" EXACT [] synonym: "familial spastic paraplegia, autosomal dominant 3" EXACT [] synonym: "FSP3" EXACT [] synonym: "NIPA1-RELATED CONDITION" EXACT [] synonym: "spastic paraplegia 6" EXACT [] synonym: "SPG6" EXACT [] xref: ICD10CM:G11.4 xref: MESH:C536866 xref: ORDO:100988 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110812 name: hereditary spastic paraplegia 61 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ARL6IP1 gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 61" EXACT [] synonym: "autosomal recessive spastic paraplegia type 61" EXACT [] synonym: "spastic paraplegia-61" EXACT [] synonym: "SPG61" EXACT [] xref: MIM:615685 xref: ORDO:401780 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110813 name: hereditary spastic paraplegia 62 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ERLIN1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 62" EXACT [] synonym: "autosomal recessive spastic paraplegia type 62" EXACT [] synonym: "spastic paraplegia-62" EXACT [] synonym: "SPG62" EXACT [] xref: MIM:615681 xref: MONDO:0014302 xref: ORDO:401785 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110814 name: hereditary spastic paraplegia 63 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the AMPD2 gene on chromosome 1p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 63" EXACT [] synonym: "spastic paraplegia 63" EXACT [] synonym: "SPG63" EXACT [] xref: MIM:615686 xref: ORDO:401805 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110815 name: hereditary spastic paraplegia 64 alt_id: RDO:9000756 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the ENTPD1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 64" EXACT [] synonym: "autosomal recessive spastic paraplegia type 64" EXACT [] synonym: "SPG64" EXACT [] xref: MIM:615683 xref: ORDO:401810 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110816 name: hereditary spastic paraplegia 7 alt_id: MIM:607259 def: "A hereditary spastic paraplegia that is characterized by slowly progressive onset, usually between 18-60 years of age, and generally more severe spasticity and has_material_basis_in mutation in the SPG7 gene on chromosome 16q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9635427 "DO"] synonym: "autosomal recessive spastic paraplegia 7" EXACT [] synonym: "hereditary spastic paraplegia, paraplegin type" EXACT [] synonym: "spastic paraplegia 7" EXACT [] synonym: "spastic paraplegia type 7" EXACT [] synonym: "SPG7" EXACT [] synonym: "SPG7-RELATED CONDITION" EXACT [] xref: MESH:C564599 xref: MESH:C580457 xref: NCI:C181657 xref: ORDO:99013 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110817 name: hereditary spastic paraplegia 72A alt_id: MIM:620606 def: "A hereditary spastic paraplegia that has_material_basis_in a heterozygous mutation in the REEP2 gene on chromosome 5q31.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24388663 "DO"] synonym: "autosomal dominant spastic paraplegia type 72" NARROW [] synonym: "autosomal recessive spastic paraplegia type 72" NARROW [] synonym: "autosomal spastic paraplegia type 72" EXACT [] synonym: "hereditary spastic paraplegia 72" EXACT [] synonym: "spastic paraplegia 72, autosomal dominant" EXACT [] synonym: "spastic paraplegia 72, autosomal recessive" EXACT [] synonym: "spastic paraplegia 72B, autosomal recessive" RELATED [] synonym: "SPG72" EXACT [] synonym: "SPG72B" RELATED [] xref: MIM:615625 xref: ORDO:401849 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110818 name: hereditary spastic paraplegia 73 alt_id: RDO:9001558 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CPT1C gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25751282 "DO"] synonym: "autosomal dominant spastic paraplegia 73" EXACT [] synonym: "autosomal dominant spastic paraplegia type 73" EXACT [] synonym: "SPG73" EXACT [] xref: MIM:616282 xref: ORDO:444099 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110819 name: hereditary spastic paraplegia 74 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the IBA57 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25609768 "DO"] synonym: "autosomal recessive spastic paraplegia 74" EXACT [] synonym: "SPG74" EXACT [] xref: MIM:616451 xref: ORDO:468661 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110820 name: hereditary spastic paraplegia 75 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the MAG gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24482476 "DO"] synonym: "autosomal recessive spastic paraplegia 75" EXACT [] synonym: "autosomal recessive spastic paraplegia type 75" EXACT [] synonym: "SPG75" EXACT [] xref: EFO:0009018 xref: MIM:616680 xref: ORDO:459056 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1561 ! cognitive disorder is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110821 name: hereditary spastic paraplegia 76 alt_id: OMIA:001820 alt_id: RDO:9000338 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the CAPN1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27153400 "DO"] synonym: "autosomal recessive hereditary spastic paraplegia-76" EXACT [] synonym: "autosomal recessive spastic paraplegia 76" EXACT [] synonym: "AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76" EXACT [] synonym: "spastic paraplegia-76" EXACT [] synonym: "SPG76" EXACT [] synonym: "spinocerebellar ataxia, CAPN1-related" EXACT [] xref: EFO:0009019 xref: MIM:616907 xref: NCI:C157150 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110822 name: hereditary spastic paraplegia 77 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the FARS2 gene on chromosome 6p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26553276 "DO"] synonym: "autosomal recessive spastic paraplegia 77" EXACT [] synonym: "SPG77" EXACT [] xref: MIM:617046 xref: ORDO:466722 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110823 name: hereditary spastic paraplegia 8 alt_id: MIM:603563 alt_id: RDO:0002580 alt_id: RDO:0015929 def: "A hereditary spastic paraplegia that has_material_basis_in mutation in the KIAA0196 gene on chromosome 8q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160902 "DO"] synonym: "autosomal dominant spastic paraplegia 8" EXACT [] synonym: "autosomal dominant spastic paraplegia type 8" EXACT [] synonym: "Spastic Paraplegia 8" EXACT [] synonym: "spastic paraplegia type 8" EXACT [] synonym: "SPG8" EXACT [] synonym: "Spg 8" EXACT [] synonym: "WASHC5-RELATED CONDITION" BROAD [] xref: GARD:9591 xref: MESH:C580458 xref: ORDO:100989 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110824 name: hereditary spastic paraplegia 9A alt_id: MIM:601162 def: "A hereditary spastic paraplegia that has_material_basis_in autosomal dominant heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26026163 "DO"] synonym: "AD-SPG9A" EXACT [] synonym: "autosomal dominant complex spastic paraplegia type 9A" EXACT [] synonym: "autosomal dominant spastic paraparesis" EXACT [] synonym: "autosomal dominant spastic paraplegia 9A" EXACT [] synonym: "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy" EXACT [] synonym: "cataracts, motor neuronopathy, short stature and skeletal abnormalities" EXACT [] synonym: "Cataracts motor neuropathy-short stature-skeletal anomalies syndrome" EXACT [] synonym: "cataracts with motor neuronopathy, short stature, and skeletal abnormalities" EXACT [] synonym: "spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome" EXACT [] synonym: "spastic paraparesis with amyopathy, cataracts, and gastroesophageal reflux" EXACT [] synonym: "spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux" EXACT [] synonym: "SPG9A" EXACT [] xref: MESH:C536868 xref: ORDO:100990 xref: ORDO:447753 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:83 ! cataract is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0110825 name: hereditary spastic paraplegia 9B alt_id: RDO:9001562 def: "A hereditary spastic paraplegia that has_material_basis_in autosomal recessive homozygous or compound heterozygous mutation in the ALDH18A1 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26026163 "DO"] synonym: "autosomal recessive complex spastic paraplegia type 9B" EXACT [] synonym: "autosomal recessive spastic paraplegia 9B" EXACT [] synonym: "SPG9B" EXACT [] xref: MIM:616586 xref: ORDO:447760 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:0110826 name: Usher syndrome type 1 def: "An Usher syndrome characterized by profound congenital deafness, vestibular dysfunction and early development of retinitis pigmentosa. (DO)" [https://ghr.nlm.nih.gov/condition/usher-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1265/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/2909824 "DO"] synonym: "US1" EXACT [] synonym: "USH1" EXACT [] synonym: "Usher Syndrome, Type I" EXACT [] xref: NCI:C126327 xref: ORDO:231169 is_a: DOID:0050439 ! Usher syndrome [Term] id: DOID:0110827 name: Usher syndrome type 2 def: "An Usher syndrome characterized by mild to severe congenital hearing impairment, normal vestibular function and later development of retinitis pigmentosa. (DO)" [https://ghr.nlm.nih.gov/condition/usher-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1341/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/2909824 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9624053 "DO"] synonym: "USH2" EXACT [] synonym: "Usher Syndrome, Type II" EXACT [] xref: NCI:C126328 xref: ORDO:231178 is_a: DOID:0050439 ! Usher syndrome [Term] id: DOID:0110828 name: Usher syndrome type 3 def: "An Usher syndrome characterized by progressive hearing loss typically beginning in late childhood, variable vestibular dysfunction and onset of retinitis pigmentosa by the second decade of life. (DO)" [https://ghr.nlm.nih.gov/condition/usher-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2909824 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8864816 "DO"] synonym: "USH3" EXACT [] synonym: "Usher Syndrome, Type III" EXACT [] xref: GARD:5442 is_a: DOID:0050439 ! Usher syndrome created_by: rgd creation_date: 2015-10-06T00:00:00Z [Term] id: DOID:0110829 name: retinitis pigmentosa-deafness syndrome def: "An Usher syndrome characterized by retinitis pigmentosa and onset of sensorineural hearing impairment in the teens that has_material_basis_in mutation in the MTTS2 gene in the mitochondrial genome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10090882 "DO"] synonym: "CEREBELLAR ATAXIA, CATARACT, AND DIABETES MELLITUS" RELATED [] synonym: "retinitis pigmentosa 21" RELATED [] synonym: "retinitis pigmentosa 8" RELATED [] synonym: "RP21" RELATED [] synonym: "RP8" RELATED [] xref: GARD:4684 xref: MIM:500004 xref: NCI:C126329 xref: ORDO:231183 is_a: DOID:0050439 ! Usher syndrome is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:0110830 name: Usher syndrome type 1C alt_id: MIM:276904 def: "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the USH1C gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10973247 "DO"] synonym: "USH1C" EXACT [] synonym: "Usher syndrome, Acadian variety" EXACT [] synonym: "Usher syndrome type I Acadian variety" EXACT [] synonym: "Usher syndrome type IC" EXACT [] xref: MESH:C536486 xref: MESH:C564753 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110831 name: Usher syndrome type 1D def: "An Usher syndrome type 1 that has_material_basis_in homozygous or compound heterozygous mutation in the CDH23 gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11138009 "DO"] synonym: "USH1D" EXACT [] synonym: "Usher syndrome, type ID" EXACT [] xref: MESH:C536487 xref: MESH:C563400 xref: MIM:601067 xref: MONDO:0010984 is_a: DOID:0080578 ! digenic disease is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110832 name: Usher syndrome type 1F alt_id: MIM:602083 alt_id: RDO:0011990 def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the PCDH15 gene on chromosome 10q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11398101 "DO"] synonym: "USH1F" EXACT [] synonym: "Usher syndrome type IF" EXACT [] xref: MESH:C536489 xref: MESH:C566586 xref: RDO:0002091 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110833 name: Usher syndrome type 1E alt_id: MIM:602097 alt_id: RDO:0011989 def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 21q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9002666 "DO"] synonym: "USH1E" EXACT [] synonym: "USHER SYNDROME, TYPE IE" EXACT [] xref: MESH:C536488 xref: MESH:C566577 xref: RDO:0002090 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110834 name: Usher syndrome type 1G alt_id: MIM:606943 def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous or compound heterozygous mutation in the USH1G gene on chromosome 17q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12588794 "DO"] synonym: "USH1G" EXACT [] synonym: "USH1G-RELATED CONDITION" EXACT [] synonym: "USH1G-RELATED DISORDER" EXACT [] synonym: "USH1G-RELATED DISORDERS" EXACT [] synonym: "Usher syndrome type IG" EXACT [] xref: MESH:C564643 xref: RDO:0011956 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110835 name: Usher syndrome type 1H alt_id: MIM:612632 def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 15q22-q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18505454 "DO"] synonym: "USH1H" EXACT [] synonym: "Usher syndrome type IH" EXACT [] xref: MESH:C567227 xref: RDO:0012007 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110836 name: Usher syndrome type 1J alt_id: RDO:0012127 def: "An Usher syndrome type 1 that has_material_basis_in caused by homozygous mutation in the CIB2 gene on chromosome 15q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23023331 "DO"] synonym: "USH1J" EXACT [] synonym: "Usher syndrome 1J" EXACT [] synonym: "Usher syndrome type IJ" EXACT [] xref: MIM:614869 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:0110837 name: Usher syndrome type 1K alt_id: RDO:9004229 def: "An Usher syndrome type 1 that has_material_basis_in variation in the chromosome region 10p11.21-q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22718019 "DO"] synonym: "USH1K" EXACT [] synonym: "Usher syndrome type IK" EXACT [] xref: MIM:614990 is_a: DOID:0110826 ! Usher syndrome type 1 created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110838 name: Usher syndrome type 2A alt_id: MIM:276901 def: "An Usher syndrome type 2 characterized by moderate to severe sensorineural hearing loss, mainly affecting perception of high frequency sounds and progressive retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in the USH2A gene on chromosome 1q41. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9624053 "DO"] synonym: "USH2A" EXACT [] synonym: "USH2A-RELATED CONDITION" BROAD [] synonym: "USH2A-related disorder" BROAD [] synonym: "Usher syndrome, type IIA" EXACT [] xref: GARD:5440 xref: MESH:C536490 is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:0110839 name: Usher syndrome type 2C alt_id: MIM:605472 def: "An Usher syndrome type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the ADGRV1 gene on chromosome 5q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14740321 "DO"] synonym: "ADGRV1-RELATED CONDITION" BROAD [] synonym: "ADGRV1-RELATED DISORDER" BROAD [] synonym: "USH2B" NARROW [] synonym: "USH2C" EXACT [] synonym: "Usher syndrome IIC" EXACT [] synonym: "Usher Syndrome Type 2c, GPR98/PDZD Digenic" NARROW [] synonym: "Usher Syndrome, Type IIC" EXACT [] synonym: "Usher syndrome, Type IIC, GPR98/PDZD7 digenic" NARROW [] xref: MESH:C536492 xref: NCI:C153174 is_a: DOID:0080578 ! digenic disease is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:0110840 name: Usher syndrome type 2D def: "An Usher syndrome type 2 that has_material_basis_in by homozygous or compound heterozygous mutation in the WHRN gene on chromosome 9q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17171570 "DO"] synonym: "USH2D" EXACT [] synonym: "Usher Syndrome, Type IID" EXACT [] xref: MIM:611383 xref: MONDO:0012662 is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:0110841 name: Usher syndrome type 3A alt_id: RDO:0008520 def: "An Usher syndrome type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the CLRN1 gene on chromosome 3q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11524702 "DO"] synonym: "USH3A" EXACT [] synonym: "Usher syndrome type IIIA" EXACT [] xref: MIM:276902 is_a: DOID:0110828 ! Usher syndrome type 3 [Term] id: DOID:0110842 name: Usher syndrome type 3B alt_id: RDO:9000848 def: "An Usher syndrome type 3 that has_material_basis_in homozygous mutation in the HARS gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22279524 "DO"] synonym: "USH3B" EXACT [] synonym: "Usher Syndrome, Type IIIB" EXACT [] xref: MIM:614504 is_a: DOID:0110828 ! Usher syndrome type 3 [Term] id: DOID:0110843 name: xeroderma pigmentosum group A alt_id: RDO:9003067 def: "A xeroderma pigmentosum characterized by involvement of the central and peripheral nervous systems in addition to cutaneous lesions that has_material_basis_in caused by homozygous or compound heterozygous mutation in the XPA gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2168777 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2234061 "DO"] synonym: "xeroderma pigmentosum 1" EXACT [] synonym: "xeroderma pigmentosum complementation group A" EXACT [] synonym: "xeroderma pigmentosum I" EXACT [] synonym: "XP1" EXACT [] synonym: "XPA" EXACT [] synonym: "XP group A" EXACT [] xref: MIM:278700 xref: NCI:C3965 is_a: DOID:0050427 ! xeroderma pigmentosum created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110844 name: xeroderma pigmentosum group C alt_id: MIM:278720 def: "A xeroderma pigmentosum characterized by increased propensity to develop malignant melanoma that has_material_basis_in mutation in the XPC gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6696469 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8298653 "DO"] synonym: "Xeroderma Pigmentosum, Complementation Group C" EXACT [] synonym: "xeroderma pigmentosum III" EXACT [] synonym: "XP3" EXACT [] synonym: "XPC" EXACT [] synonym: "XPCC" EXACT [] synonym: "XP group C" EXACT [] xref: MESH:C567886 xref: NCI:C114770 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110845 name: xeroderma pigmentosum group D alt_id: MIM:278730 alt_id: RDO:0012239 def: "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the excision repair gene ERCC2 on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7849702 "DO"] synonym: "xeroderma pigmentosum IV" EXACT [] synonym: "xeroderma pigmentosum VIII" EXACT [] synonym: "XP4" EXACT [] synonym: "XP4 XERODERMA PIGMENTOSUM VIII" EXACT [] synonym: "XP8" EXACT [] synonym: "XPD" EXACT [] synonym: "XPDC" EXACT [] synonym: "XP, Group D" EXACT [] synonym: "XP, group H" EXACT [] synonym: "XPH" EXACT [] xref: MESH:C562591 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110846 name: xeroderma pigmentosum group E alt_id: MIM:278740 def: "A xeroderma pigmentosum characterized by a mild phenotype that has_material_basis_in homozygous mutation in the DDB2 gene on chromosome 11p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3339259 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8798680 "DO"] synonym: "Xeroderma Pigmentosum, Complementation Group E" EXACT [] synonym: "Xeroderma Pigmentosum V" EXACT [] synonym: "XP5" EXACT [] synonym: "XPE" EXACT [] synonym: "XP, Group E" EXACT [] xref: MESH:C564732 xref: NCI:C114771 xref: RDO:0013595 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110847 name: xeroderma pigmentosum variant type alt_id: MIM:278750 def: "A xeroderma pigmentosum characterized by normal DNA excision repair, but defective postreplication repair that has_material_basis_in mutations in the POLH gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10385124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1054497 "DO"] synonym: "Photosensitivity with defective DNA synthesis" EXACT [] synonym: "Xeroderma pigmentosum with normal DNA repair rates" EXACT [] synonym: "XPV" EXACT [] xref: GARD:5630 xref: MESH:C536766 xref: NCI:C141367 xref: RDO:0002449 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110848 name: xeroderma pigmentosum group F alt_id: MIM:278760 def: "A xeroderma pigmentosum characterized by milder symptoms and later onset of skin cancer that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23623389 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8797827 "DO"] synonym: "Xeroderma Pigmentosum, Complementation Group F" EXACT [] synonym: "XERODERMA PIGMENTOSUM, TYPE F" EXACT [] synonym: "XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME" EXACT [] synonym: "XERODERMA PIGMENTOSUM VI" EXACT [] synonym: "XP6" EXACT [] synonym: "XP6 XERODERMA PIGMENTOSUM, TYPE F/COCKAYNE SYNDROME" EXACT [] synonym: "XPF" EXACT [] synonym: "XPF/CS" EXACT [] synonym: "XP, Group F" EXACT [] xref: ICD10CM:Q82.1 xref: MESH:C562592 xref: NCI:C3968 xref: RDO:0012240 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110849 name: xeroderma pigmentosum group G alt_id: MIM:278780 def: "A xeroderma pigmentosum that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC5 gene on chromosome 13q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11841555 "DO"] synonym: "xeroderma pigmentosum, complementation group G" EXACT [] synonym: "xeroderma pigmentosum VII" NARROW [] synonym: "XP7" EXACT [] synonym: "XPG" EXACT [] synonym: "XPGC" EXACT [] synonym: "XP, group G" EXACT [] xref: MESH:C562593 xref: NCI:C3969 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110850 name: xeroderma pigmentosum group B def: "A xeroderma pigmentosum characterized by that has_material_basis_in mutation in the ERCC3 gene on chromosome 2q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16947863 "DO"] synonym: "xeroderma pigmentosum, complementation group B" EXACT [] synonym: "XPB" EXACT [] synonym: "XPB/CS" NARROW [] synonym: "XPBC" EXACT [] synonym: "XPBC XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME" NARROW [] synonym: "XP, GROUP B" NARROW [] xref: MESH:C562590 xref: MIM:610651 xref: MONDO:0012531 xref: NCI:C3966 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:0110851 name: rhizomelic chondrodysplasia punctata type 1 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX7 gene on chromosome 6q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15679822 "DO"] synonym: "CDPR" EXACT [] synonym: "Chondrodystrophia calcificans punctata" EXACT [] synonym: "PBD9" EXACT [] synonym: "Peroxisome Biogenesis Disorder 9" EXACT [] synonym: "RCDP1" EXACT [] xref: GARD:6049 xref: MESH:C531651 xref: MIM:215100 xref: MONDO:0008972 xref: ORDO:309789 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110852 name: rhizomelic chondrodysplasia punctata type 2 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the GNPAT gene on chromosome 1q42.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1405476 "DO"] synonym: "Chondrodysplasia punctata, rhizomelic, due to DHAPAT deficiency" EXACT [] synonym: "Chondrodysplasia Punctata, Rhizomelic, Due To Dihydroxyacetonephosphate Acyltransferase Deficiency" EXACT [] synonym: "DHAPAT deficiency" EXACT [] synonym: "Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [] synonym: "Glyceronephosphate acyltransferase deficiency" EXACT [] synonym: "Glyceronephosphate O-Acyltransferase Deficiency" EXACT [] synonym: "GNPAT deficiency" EXACT [] synonym: "GNPAT-RELATED CONDITION" EXACT [] synonym: "Human dihydroxyacetonephosphate acyltransferase deficiency" EXACT [] synonym: "Peroxisomal dihydroxyacetonephosphate acyltransferase deficiency" EXACT [] synonym: "RCDP2" EXACT [] xref: MESH:C537607 xref: MIM:222765 xref: MONDO:0009112 xref: ORDO:309796 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110853 name: rhizomelic chondrodysplasia punctata type 3 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the AGPS gene on chromosome 2q31.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22871920 "DO"] synonym: "AGPS deficiency" EXACT [] synonym: "alkyldihydroxyacetonephosphate synthase deficiency" EXACT [] synonym: "alkylglycerone-phosphate synthase deficiency" EXACT [] synonym: "RCDP3" EXACT [] xref: MESH:C537608 xref: MIM:600121 xref: MONDO:0010823 xref: ORDO:309803 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110854 name: rhizomelic chondrodysplasia punctata type 5 def: "A rhizomelic chondrodysplasia punctata that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the PEX5 gene on chromosome 12p13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26220973 "DO"] synonym: "RCDP5" EXACT [] xref: MIM:616716 xref: MONDO:0014743 xref: ORDO:468717 is_a: DOID:2580 ! rhizomelic chondrodysplasia punctata [Term] id: DOID:0110855 name: posterior polymorphous corneal dystrophy 1 def: "A posterior polymorphous corneal dystrophy that has_material_basis_in autosomal dominant inheritance of mutation in the OVOL2 gene on chromosome 20p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26749309 "DO"] synonym: "CHED1" EXACT [] synonym: "corneal endothelial dystrophy 1" EXACT [] synonym: "corneal endothelial dystrophy 1, autosomal dominant" EXACT [] synonym: "hereditary polymorphous posterior corneal dystrophy" EXACT [] synonym: "Maumenee corneal dystrophy" EXACT [] synonym: "PPCD1" EXACT [] xref: ICD10CM:H18.50 xref: MESH:C562745 xref: MESH:C565156 xref: MIM:122000 xref: MONDO:0007378 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0110856 name: posterior polymorphous corneal dystrophy 2 def: "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the COL8A2 gene on chromosome 1p34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11689488 "DO"] synonym: "PPCD2" EXACT [] xref: MESH:C565176 xref: MIM:609140 xref: MONDO:0012199 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0110857 name: posterior polymorphous corneal dystrophy 3 def: "A posterior polymorphous corneal dystrophy that has_material_basis_in heterozygous mutation in the ZEB1 gene on chromosome 10p11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16252232 "DO"] synonym: "PPCD3" EXACT [] xref: MESH:C563788 xref: MIM:609141 xref: MONDO:0012200 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0060457 ! posterior polymorphous corneal dystrophy [Term] id: DOID:0110858 name: polycystic kidney disease 1 def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD1 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9650770 "DO"] synonym: "adult polycystic kidney disease type 1" EXACT [] synonym: "adult polycystic kidney disease, type I" EXACT [] synonym: "APKD1" EXACT [] synonym: "PKD1" EXACT [] synonym: "PKD1-RELATED CONDITION" EXACT [] synonym: "polycystic kidney disease type 1" EXACT [] synonym: "polycystic kidney type 1, autosomal dominant disease" EXACT [] synonym: "Potter type III polycystic kidney disease" EXACT [] xref: MESH:C536326 xref: MESH:C566792 xref: MIM:173900 xref: MONDO:0008263 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0110859 name: polycystic kidney disease 2 def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the PKD2 gene on chromosome 4q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7825585 "DO"] synonym: "adult polycystic kidney disease type 2" EXACT [] synonym: "adult polycystic kidney disease, type II" EXACT [] synonym: "APKD2" EXACT [] synonym: "PKD2" EXACT [] synonym: "PKD2-RELATED CONDITION" EXACT [] synonym: "polycystic kidney disease, type 2" EXACT [] synonym: "polycystic kidney, type 2 autosomal dominant disease" EXACT [] xref: MIM:613095 xref: MONDO:0013131 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110860 name: polycystic kidney disease 3 def: "A autosomal dominant polycystic kidney disease that has_material_basis_in autosomal dominant inheritance of mutation in the GANAB gene on chromosome 11q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27259053 "DO"] synonym: "adult polycystic kidney disease, type 3" EXACT [] synonym: "adult polycystic kidney disease, type III" EXACT [] synonym: "APKD3" EXACT [] synonym: "PKD3" EXACT [] synonym: "POLYCYSTIC KIDNEY DISEASE 3 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE" EXACT [] synonym: "POLYCYSTIC KIDNEY DISEASE 3 WITH POLYCYSTIC LIVER DISEASE" NARROW [] xref: MIM:600666 xref: MONDO:0010916 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0110861 name: autosomal recessive polycystic kidney disease def: "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal recessive fashion. (DO)" [https://rarediseases.info.nih.gov/diseases/8378/autosomal-recessive-polycystic-kidney-disease "DO"] synonym: "AR-PKD" EXACT [] synonym: "ARPKD" EXACT [] synonym: "autosomal recessive polycystic kidney" EXACT [] synonym: "congenital hepatic fibrosis" NARROW [] synonym: "Polycystic Kidney Disease, Infantile, Type I" EXACT [] xref: GARD:8378 xref: ICD10CM:Q61.1 xref: ICD9CM:753.14 xref: MESH:D017044 xref: MONDO:0009889 xref: NCI:C84579 xref: ORDO:731 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080322 ! polycystic kidney disease [Term] id: DOID:0110862 name: congenital stationary night blindness autosomal dominant 1 alt_id: MIM:610445 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in mutations in the RHO gene on chromosome 3q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7846071 "DO"] synonym: "CSNBAD1" EXACT [] synonym: "rhodopsin-related congenital stationary night blindness" EXACT [] xref: MESH:C566474 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110863 name: congenital stationary night blindness autosomal dominant 2 alt_id: MIM:163500 def: "A congenital stationary night blindness characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the PDE6B gene on chromosome 4p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8075643 "DO"] synonym: "congenital stationary night blindness, Rambusch type" EXACT [] synonym: "CSNBAD2" EXACT [] synonym: "PDE6B-RELATED CONDITION" BROAD [] synonym: "PDE6B-RELATED DISORDER" BROAD [] xref: MESH:C566869 xref: MONDO:0008099 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110864 name: congenital stationary night blindness 1F def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in compound heterozygous mutation in the LRIT3 gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23246293 "DO"] synonym: "congenital stationary night blindness 1F autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, type 1F" EXACT [] synonym: "CSNB1F" EXACT [] xref: MIM:615058 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110865 name: congenital stationary night blindness 1B def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in mutation in the GRM6 gene on chromosome 5q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15781871 "DO"] synonym: "congenital stationary night blindness 1B autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, complete, autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, type 1B" EXACT [] synonym: "CSNB1B" EXACT [] synonym: "CSNB, COMPLETE, AUTOSOMAL RECESSIVE" EXACT [] xref: MIM:257270 xref: MONDO:0009758 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110866 name: congenital stationary night blindness 1H def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GNB3 gene on chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27063057 "DO"] synonym: "congenital stationary night blindness type 1H" EXACT [] synonym: "CSNB1H" EXACT [] xref: MIM:617024 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2016-08-10T00:00:00Z [Term] id: DOID:0110867 name: congenital stationary night blindness 1C alt_id: MIM:613216 alt_id: RDO:0009789 alt_id: RDO:0015700 def: "A congenital stationary night blindness characterized by autosomal recessive that has_material_basis_in homozygous or compound heterozygous mutation in the TRPM1 gene on chromosome 15q13-q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19878917 "DO"] synonym: "congenital stationary night blindness 1C autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, type 1C" EXACT [] synonym: "CSNB1C" EXACT [] synonym: "CSNB, complete, autosomal recessive" EXACT [] synonym: "TRPM1-RELATED CONDITION" EXACT [] xref: MESH:C567704 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110868 name: congenital stationary night blindness 1D alt_id: RDO:9000617 def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SLC24A1 gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20850105 "DO"] synonym: "congenital stationary night blindness 1D autosomal recessive" EXACT [] synonym: "CONGENITAL STATIONARY NIGHT BLINDNESS, TYPE 1D" EXACT [] synonym: "CSNB1D" EXACT [] synonym: "CSNB, COMPLETE, AUTOSOMAL RECESSIVE" EXACT [] xref: MIM:613830 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110869 name: congenital stationary night blindness 1E alt_id: RDO:9000618 def: "A congenital stationary night blindness characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the GPR179 gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22325361 "DO"] synonym: "congenital stationary night blindness 1E autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, type 1E" EXACT [] synonym: "CSNB1E" EXACT [] synonym: "CSNB, COMPLETE, AUTOSOMAL RECESSIVE" EXACT [] synonym: "GPR179-RELATED CONDITION" EXACT [] xref: MIM:614565 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110870 name: congenital stationary night blindness 1A alt_id: RDO:0008703 def: "A congenital stationary night blindness that has_material_basis_in mutation in the NYX gene on chromosome Xp11.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9662400 "DO"] synonym: "congenital stationary night blindness 1A, X-linked" EXACT [] synonym: "congenital stationary night blindness, type 1A" EXACT [] synonym: "congenital stationary night blindness, with myopia" EXACT [] synonym: "CSNB1A" EXACT [] synonym: "CSNB, complete, X-linked" EXACT [] synonym: "myopia-night blindness" EXACT [] synonym: "NBMI" EXACT [] synonym: "NYX-RELATED CONDITION" BROAD [] xref: MIM:310500 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110871 name: congenital stationary night blindness 2A alt_id: RDO:0008547 def: "A congenital stationary night blindness that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9662399 "DO"] synonym: "congenital stationary night blindness 2A, X-linked" EXACT [] synonym: "congenital stationary night blindness, type 2" EXACT [] synonym: "congenital stationary night blindness type 2A" EXACT [] synonym: "congenital stationary night blindness type 2A, severe" NARROW [] synonym: "CSNB2" EXACT [] synonym: "CSNB2A" EXACT [] synonym: "CSNB, incomplete, X-linked" EXACT [] xref: MIM:300071 is_a: DOID:0050534 ! congenital stationary night blindness is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0110872 name: holoprosencephaly 2 alt_id: MIM:157170 def: "A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369266 "DO"] synonym: "HPE2" EXACT [] xref: MESH:C563579 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110873 name: holoprosencephaly 9 alt_id: MIM:610829 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14581620 "DO"] synonym: "CEREBELLAR CYST" NARROW [] synonym: "GLI2-RELATED CONDITION" BROAD [] synonym: "GLI2-related disorder" BROAD [] synonym: "HOLOPROSENCEPHALY WITH MICROPHTHALMIA AND FIRST BRANCHIAL ARCH ANOMALIES" EXACT [] synonym: "HPE9" EXACT [] synonym: "Pituitary Anomalies with Holoprosencephaly-Like Features" EXACT [] xref: MESH:C563659 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1148 ! polydactyly is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0110874 name: holoprosencephaly 6 alt_id: MIM:605934 def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 2q37.1-q37.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11343300 "DO"] synonym: "HPE6" EXACT [] xref: MESH:C565274 is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110875 name: holoprosencephaly 3 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8896572 "DO"] synonym: "HLP3" EXACT [] synonym: "HPE3" EXACT [] xref: MESH:C564181 xref: MIM:142945 xref: MONDO:0007733 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110876 name: holoprosencephaly 7 alt_id: MIM:610828 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11941477 "DO"] synonym: "HPE7" EXACT [] xref: MESH:C563660 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110877 name: holoprosencephaly 11 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the CDON gene on chromosome 11q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21802063 "DO"] synonym: "CDON-RELATED CONDITION" EXACT [] synonym: "HPE11" EXACT [] xref: MIM:614226 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110878 name: holoprosencephaly 5 alt_id: MIM:609637 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9771712 "DO"] synonym: "HPE5" EXACT [] synonym: "ZIC2-RELATED CONDITION" EXACT [] xref: MESH:C566464 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110879 name: holoprosencephaly 8 alt_id: MIM:609408 def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 14q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15820313 "DO"] synonym: "HPE8" EXACT [] xref: MESH:C563723 is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110880 name: holoprosencephaly 4 alt_id: MIM:142946 def: "A holoprosencephaly that has_material_basis_in heterozygous mutation in the TGIF gene on chromosome 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10835638 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16323008 "DO"] synonym: "HPE4" EXACT [] xref: MESH:C564180 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110881 name: holoprosencephaly 1 alt_id: MIM:236100 def: "A holoprosencephaly that has_material_basis_in variation in the chromosome region 21q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7485157 "DO"] synonym: "cyclopia" EXACT [] synonym: "HPE1" EXACT [] xref: MESH:C562573 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:0110882 name: inflammatory bowel disease 7 alt_id: MIM:605225 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19122664 "DO"] synonym: "IBD7" EXACT [] xref: MESH:C565353 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110883 name: inflammatory bowel disease 17 alt_id: MIM:612261 def: "An inflammatory bowel disease that has_material_basis_in variation in the IL23R gene on chromosome 1p31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17068223 "DO"] synonym: "IBD17" EXACT [] synonym: "IL23R-RELATED CONDITION" BROAD [] synonym: "inflammatory bowel disease 17, protection against" RELATED [] xref: MESH:C567378 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110884 name: inflammatory bowel disease 23 alt_id: MIM:612381 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 1q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15937090 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18587394 "DO"] synonym: "IBD23" EXACT [] xref: MESH:C567326 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110885 name: inflammatory bowel disease 10 alt_id: MIM:611081 def: "An inflammatory bowel disease that has_material_basis_in variation in the ATG16L1 gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18852889 "DO"] synonym: "IBD10" EXACT [] synonym: "inflammatory bowel disease (Crohn disease) 10" EXACT [] synonym: "inflammatory bowel disease 10, susceptibility to" RELATED [] xref: MESH:C567021 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110886 name: inflammatory bowel disease 9 alt_id: MIM:608448 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12354785 "DO"] synonym: "IBD9" EXACT [] xref: MESH:C563926 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110887 name: inflammatory bowel disease 12 alt_id: MIM:612241 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 3p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17804789 "DO"] synonym: "IBD12" EXACT [] xref: MESH:C567388 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110888 name: inflammatory bowel disease 18 alt_id: MIM:612262 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17447842 "DO"] synonym: "IBD18" EXACT [] xref: MESH:C567377 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110889 name: inflammatory bowel disease 5 alt_id: MIM:606348 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11586304 "DO"] synonym: "IBD5" EXACT [] xref: MESH:C565234 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110890 name: inflammatory bowel disease 19 alt_id: MIM:612278 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 5q33.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17554261 "DO"] synonym: "IBD19" EXACT [] synonym: "inflammatory bowel disease (Crohn disease) 19" EXACT [] xref: MESH:C567372 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110891 name: inflammatory bowel disease 3 alt_id: MIM:604519 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 6p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10577918 "DO"] synonym: "IBD3" EXACT [] xref: MESH:C565764 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110892 name: inflammatory bowel disease 1 def: "An inflammatory bowel disease that has_material_basis_in mutations in the NOD2 gene on chromosome 16q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11385576 "DO"] synonym: "IBD1" EXACT [] xref: MONDO:0009960 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0110893 name: inflammatory bowel disease 13 alt_id: MIM:612244 def: "An inflammatory bowel disease that has_material_basis_in variation in the ABCB1 gene on chromosome 7q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14610718 "DO"] synonym: "IBD13" EXACT [] xref: MESH:C567384 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110894 name: inflammatory bowel disease 11 alt_id: MIM:191390 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8841195 "DO"] synonym: "IBD11" EXACT [] xref: MESH:C567154 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:0110895 name: inflammatory bowel disease 14 alt_id: MIM:612245 def: "An inflammatory bowel disease that has_material_basis_in variation in the IRF5 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17881657 "DO"] synonym: "IBD14" EXACT [] synonym: "INFLAMMATORY BOWEL DISEASE 14, SUSCEPTIBILITY TO" RELATED [] xref: MESH:C567383 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110896 name: inflammatory bowel disease 16 alt_id: MIM:612259 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 9q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18587394 "DO"] synonym: "IBD16" EXACT [] xref: MESH:C567380 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110897 name: inflammatory bowel disease 15 alt_id: MIM:612255 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18438406 "DO"] synonym: "IBD15" EXACT [] xref: MESH:C567381 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110898 name: inflammatory bowel disease 20 alt_id: MIM:612288 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 10q23-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10053016 "DO"] synonym: "IBD20" EXACT [] xref: MESH:C567361 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110899 name: inflammatory bowel disease 28 alt_id: MIM:613148 def: "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the IL10RA gene on chromosome 11q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19890111 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22476154 "DO"] synonym: "autosomal recessive inflammatory bowel disease 28" EXACT [] synonym: "early onset autosomal recessive inflammatory bowel disease 28" EXACT [] synonym: "IBD28" EXACT [] xref: MESH:C567728 xref: NCI:C164676 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110900 name: inflammatory bowel disease 2 alt_id: MIM:601458 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12p13.2-q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8841195 "DO"] synonym: "IBD2" EXACT [] xref: MESH:C563310 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110901 name: inflammatory bowel disease 26 alt_id: MIM:612639 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 12q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19122664 "DO"] synonym: "IBD26" EXACT [] xref: MESH:C567217 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110902 name: inflammatory bowel disease 27 alt_id: MIM:612796 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 13q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18246054 "DO"] synonym: "IBD27" EXACT [] xref: MESH:C567559 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110903 name: inflammatory bowel disease 4 alt_id: MIM:606675 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 14q11-q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10747815 "DO"] synonym: "IBD4" EXACT [] xref: MESH:C564680 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110904 name: inflammatory bowel disease 8 alt_id: MIM:606668 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 16p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11752413 "DO"] synonym: "IBD8" EXACT [] xref: MESH:C564682 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110905 name: inflammatory bowel disease 22 alt_id: MIM:612380 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18438405 "DO"] synonym: "IBD22" EXACT [] xref: MESH:C567327 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110906 name: inflammatory bowel disease 21 alt_id: MIM:612354 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 18p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17554261 "DO"] synonym: "IBD21" EXACT [] xref: MESH:C567338 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110907 name: inflammatory bowel disease 6 alt_id: MIM:606674 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome region 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10777714 "DO"] synonym: "IBD6" EXACT [] xref: MESH:C564681 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110908 name: inflammatory bowel disease 24 alt_id: MIM:612566 def: "An inflammatory bowel disease that has_material_basis_in variation in the chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18758464 "DO"] synonym: "IBD24" EXACT [] xref: MESH:C567252 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:0110909 name: inflammatory bowel disease 25 alt_id: MIM:612567 def: "An inflammatory bowel disease characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the IL10RB gene on chromosome 21q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19890111 "DO"] synonym: "autosomal recessive inflammatory bowel disease 25" EXACT [] synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT [] synonym: "IBD25" EXACT [] xref: MESH:C567251 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0110910 name: leukocyte adhesion deficiency 1 alt_id: MIM:116920 alt_id: OMIA:000595 def: "A leukocyte adhesion deficiency that has_material_basis_in mutation of the ITGB2 gene on chromosome 21q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6361068 "DO"] synonym: "LAD" EXACT [] synonym: "LAD1" EXACT [] synonym: "leukocyte adhesion deficiency type 1" EXACT [] synonym: "leukocyte adhesion deficiency, type I" EXACT [] synonym: "LFA1 immunodeficiency" EXACT [] synonym: "lymphocyte function-associated antigen 1 immunodeficiency" EXACT [] xref: MESH:C535887 xref: ORDO:99842 is_a: DOID:6612 ! leukocyte adhesion deficiency [Term] id: DOID:0110912 name: leukocyte adhesion deficiency 3 alt_id: MIM:612840 alt_id: OMIA:001525 def: "A leukocyte adhesion deficiency that is characterized by a defect in beta integrins 1, 2, and 3; which impairs the integrin activation cascade and has_material_basis_in mutation in FERMT3 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK539770/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/19234463 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=99844 "DO"] synonym: "IADD" EXACT [] synonym: "integrin activation deficiency disease" EXACT [] synonym: "LAD1V" EXACT [] synonym: "LAD1 variant" EXACT [] synonym: "LAD3" EXACT [] synonym: "leukocyte adhesion deficiency 1 variant" EXACT [] synonym: "leukocyte adhesion deficiency, type III" EXACT [] xref: MESH:C567555 xref: ORDO:99844 is_a: DOID:6612 ! leukocyte adhesion deficiency [Term] id: DOID:0110913 name: adult hypophosphatasia alt_id: MIM:146300 def: "A hypophosphatasia that has_material_basis_in a heterozygous or compound heterozygous mutation of the ALPL gene on chromosome 1p36.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1409720 "DO"] synonym: "mild hypophosphatasia" EXACT [] xref: EFO:0021431 xref: MESH:C562647 xref: ORDO:247676 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:0110914 name: infantile hypophosphatasia def: "A hypophosphatasia that has_material_basis_in homozygous or compound heterozygosity mutation in the gene encoding tissue-nonspecific alkaline phosphatase (ALPL) on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1689104 "DO"] synonym: "HOPS" EXACT [] synonym: "HPPI" EXACT [] synonym: "phosphoethanolaminuria" EXACT [] xref: EFO:0021797 xref: MESH:C562646 xref: MIM:241500 xref: ORDO:247651 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:0110915 name: childhood hypophosphatasia def: "A hypophosphatasia that has_material_basis_in an autosomal recessive mutation of the ALPL gene on chromosome 1p36.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1409720 "DO"] synonym: "childhood-onset hypophosphatasia" NARROW [] synonym: "hypophospatasia, childhood" EXACT [] xref: EFO:0021432 xref: GARD:8735 xref: MESH:C562440 xref: MIM:241510 xref: ORDO:247667 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:0110916 name: hereditary spherocytosis type 1 alt_id: MIM:182900 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the ANK1 gene on chromosome 8p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2675425 "DO"] synonym: "ANK1-RELATED CONDITION" EXACT [] synonym: "hereditary spherocytosis 1" EXACT [] synonym: "HS1" EXACT [] synonym: "SPH" EXACT [] synonym: "SPH1" EXACT [] synonym: "spherocytosis type 1, autosomal recessive" EXACT [] xref: MESH:C567159 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110917 name: hereditary spherocytosis type 2 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTB gene on chromosome 14q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8102379 "DO"] synonym: "hereditary spherocytosis 2" RELATED [] synonym: "HS2" EXACT [] synonym: "Spectrin durham" RELATED [] synonym: "Spectrin kissimmee" RELATED [] synonym: "Spectrin s-ta barbara" RELATED [] synonym: "SPH2" EXACT [] synonym: "Spherocytosis, Type 2" EXACT [] synonym: "SPTB-RELATED CONDITION" BROAD [] xref: MIM:616649 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110918 name: hereditary spherocytosis type 3 alt_id: MIM:270970 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SPTA1 gene on chromosome 1q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8941647 "DO"] synonym: "hereditary spherocytosis 3" EXACT [] synonym: "HS3" EXACT [] synonym: "SPH3" EXACT [] synonym: "spherocytosis type 3" EXACT [] synonym: "spherocytosis type 3, autosomal recessive" EXACT [] xref: MESH:C567489 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110919 name: hereditary spherocytosis type 4 alt_id: MIM:612653 def: "A hereditary spherocytosis that has_material_basis_in an autosomal dominant mutation of the SLC4A1 gene on chromosome 17q21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7530501 "DO"] synonym: "hereditary spherocytosis 4" EXACT [] synonym: "HS4" EXACT [] synonym: "SPH4" EXACT [] synonym: "spherocytosis type 4" EXACT [] xref: MESH:C567208 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110920 name: hereditary spherocytosis type 5 alt_id: MIM:612690 def: "A hereditary spherocytosis that has_material_basis_in a mutation of the EPB42 gene on chromosome 15q15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1558976 "DO"] synonym: "EPB42-RELATED CONDITION" EXACT [] synonym: "hereditary spherocytosis 5" EXACT [] synonym: "HS5" EXACT [] synonym: "SPH5" EXACT [] synonym: "spherocytosis type 5" EXACT [] xref: MESH:C567202 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12971 ! hereditary spherocytosis [Term] id: DOID:0110921 name: familial hemophagocytic lymphohistiocytosis 1 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the HPLH1 gene on chromosome 9q21.3-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9915955 "DO"] synonym: "FHL1" EXACT [] synonym: "HLH1" EXACT [] synonym: "HPLH1" EXACT [] xref: MIM:267700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110922 name: familial hemophagocytic lymphohistiocytosis 2 alt_id: MIM:603553 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the PRF1 gene on chromosome 10q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10583959 "DO"] synonym: "familial hemophagocytic lymphohistiocytosis 2, susceptibility to" RELATED [] synonym: "FHL2" EXACT [] synonym: "HLH2" EXACT [] synonym: "HPLH2" EXACT [] xref: GARD:9922 xref: MESH:C537250 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses [Term] id: DOID:0110923 name: familial hemophagocytic lymphohistiocytosis 3 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the UNC13D gene on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14622600 "DO"] synonym: "FHL3" EXACT [] synonym: "HLH3" EXACT [] synonym: "HPLH3" EXACT [] synonym: "UNC13D-RELATED CONDITION" EXACT [] xref: GARD:9928 xref: MESH:C537251 xref: MIM:608898 xref: MONDO:0012146 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses [Term] id: DOID:0110924 name: familial hemophagocytic lymphohistiocytosis 4 alt_id: MIM:603552 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in an autosomal recessive mutation of the STX11 gene on chromosome 6q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15703195 "DO"] synonym: "FHL4" EXACT [] synonym: "HLH4" EXACT [] synonym: "HPLH4" EXACT [] xref: GARD:9929 xref: MESH:C537252 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses [Term] id: DOID:0110925 name: familial hemophagocytic lymphohistiocytosis 5 alt_id: MIM:613101 def: "A hemophagocytic lymphohistiocytosis that has_material_basis_in a mutation of the STXBP2 gene on chromosome 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19804848 "DO"] synonym: "familial hemophagocytic lymphohistiocytosis 5 with or without microvillus inclusion disease" EXACT [] synonym: "FHL5" EXACT [] synonym: "HLH5" EXACT [] synonym: "HPLH5" EXACT [] synonym: "STXBP2-RELATED CONDITION" EXACT [] xref: MESH:C567752 is_a: DOID:0050177 ! monogenic disease is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses [Term] id: DOID:0110926 name: nemaline myopathy 1 def: "A nemaline myopathy characterized by onset typically in early childhood of mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TPM3 gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10619715 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24095155 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7704029 "DO"] synonym: "CAPM1" NARROW [] synonym: "CAP myopathy 1" NARROW [] synonym: "cap myopathy, TPM3-related" EXACT [] synonym: "CMYO4B" EXACT [] synonym: "CMYP4B" EXACT [] synonym: "congenital myopathy 4B" EXACT [] synonym: "congenital myopathy 4B, autosomal recessive" EXACT [] synonym: "NEM1" EXACT [] synonym: "nemaline myopathy 1, autosomal dominant or recessive" EXACT [] synonym: "nemaline myopathy caused by mutation in the tropomyosin 3 gene" EXACT [] xref: MESH:C538348 xref: MIM:609284 xref: MONDO:0012239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110927 name: nemaline myopathy 3 alt_id: MIM:161800 def: "A nemaline myopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the ACTA1 gene on chromosome 1q42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10508519 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11333380 "DO"] synonym: "CMYP2A" NARROW [] synonym: "congenital actin myopathy with cores" NARROW [] synonym: "congenital myopathy 2A" EXACT [] synonym: "congenital myopathy 2A, severe infantile or typical, autosomal dominant" NARROW [] synonym: "congenital myopathy 2A, typical, autosomal dominant" NARROW [] synonym: "NEM3" EXACT [] synonym: "NEM3 MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS," EXACT [] synonym: "nemaline myopathy 3, autosomal dominant or recessive" EXACT [] synonym: "nemaline myopathy 3, with intranuclear rods" NARROW [] synonym: "nemaline myopathy caused by mutation in the alpha-actin gene" EXACT [] xref: MESH:C538350 xref: NCI:C129870 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110928 name: nemaline myopathy 2 alt_id: MIM:256030 alt_id: OMIA:002137 def: "A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10051637 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15221447 "DO"] synonym: "congenital myopathy 2" EXACT [] synonym: "NEM2" EXACT [] synonym: "nemaline myopathy 2, autosomal recessive" EXACT [] synonym: "nemaline myopathy caused by mutation in the nebulin gene" EXACT [] synonym: "nemaline myopathy, NEB-related" EXACT [] synonym: "nemaline myopathy type 2" EXACT [] xref: MESH:C538349 xref: MONDO:0009725 xref: NCI:C118784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110929 name: nemaline myopathy 9 def: "A nemaline myopathy characterized by onset in early infancy of muscle weakness with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL41 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24268659 "DO"] synonym: "NEM9" EXACT [] xref: MIM:615731 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110930 name: nemaline myopathy 8 def: "A nemaline myopathy characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth that has_material_basis_in homozygous or compound heterozygous mutation in the KLHL40 gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23746549 "DO"] synonym: "NEM8" EXACT [] synonym: "nemaline myopathy 8, autosomal recessive" EXACT [] xref: MIM:615348 xref: NCI:C129871 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110931 name: nemaline myopathy 10 def: "A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has_material_basis_in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25250574 "DO"] synonym: "congenital myopathy 10" EXACT [] synonym: "NEM10" EXACT [] xref: MIM:616165 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110932 name: nemaline myopathy 4 def: "A nemaline myopathy that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11738357 "DO"] synonym: "CAPM2" NARROW [] synonym: "CAP MYOPATHY 2" NARROW [] synonym: "Cap Myopathy, Tpm2-Related" EXACT [] synonym: "CMYO23" EXACT [] synonym: "congenital myopathy 23" EXACT [] synonym: "NEM4" EXACT [] synonym: "nemaline myopathy 4, autosomal dominant" EXACT [] synonym: "nemaline myopathy caused by mutation in the tropomyosin 2 gene" EXACT [] xref: MESH:C538351 xref: MIM:609285 xref: MONDO:0012240 xref: NCI:C164225 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110933 name: nemaline myopathy 11 def: "A nemaline myopathy characterized by onset of slowly progressive muscle weakness in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the MYPN gene on chromosome 10q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28017374 "DO"] synonym: "CMYO24" EXACT [] synonym: "CMYP4" EXACT [] synonym: "congenital myopathy 24" EXACT [] synonym: "MYPN-RELATED CONDITION" BROAD [] synonym: "MYPN-related myopathy" EXACT [] synonym: "NEM11" EXACT [] synonym: "nemaline myopathy 11, autosomal recessive" EXACT [] xref: MIM:617336 xref: MONDO:0015023 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110934 name: nemaline myopathy 7 alt_id: MIM:610687 def: "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160903 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22560515 "DO"] synonym: "NEM7" EXACT [] synonym: "nemaline myopathy 7, autosomal recessive" EXACT [] xref: MESH:C565198 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110935 name: nemaline myopathy 6 alt_id: MIM:609273 def: "A nemaline myopathy characterized by autosomal dominant inheritance of childhood onset of slowly progressive proximal muscle weakness, exercise intolerance, and slow movements with stiff muscles that has_material_basis_in heterozygous mutation in the KBTBD13 gene on chromosome 15q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21109227 "DO"] synonym: "NEM6" EXACT [] synonym: "nemaline myopathy 6, autosomal dominant" EXACT [] xref: MESH:C538398 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110936 name: nemaline myopathy 5A alt_id: MIM:605355 def: "A nemaline myopathy that has_material_basis_in autosomal recessive inheritance of a homozygous mutation in the TNNT1 gene on chromosome 19q13, with infantile onset. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10952871 "DO"] synonym: "Amish nemaline myopathy" EXACT [] synonym: "ANM" EXACT [] synonym: "NEM5" EXACT [] synonym: "nemaline myopathy 5, Amish type" EXACT [] synonym: "nemaline myopathy, Amish type" EXACT [] synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" EXACT [] xref: GARD:8334 xref: MESH:C538397 xref: ORDO:98902 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:0110937 name: autosomal dominant osteopetrosis 1 alt_id: MIM:607634 def: "An osteopetrosis characterized by autosomal dominant inheritance of generalized osteosclerosis that is most pronounced in the cranial vault, absence of increased fractures and has_material_basis_in heterozygous mutation in the LRP5 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12579474 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3377922 "DO"] synonym: "autosomal dominant osteopetrosis type 1" EXACT [] synonym: "autosomal dominant osteopetrosis, type I" EXACT [] synonym: "OPTA1" EXACT [] xref: GARD:4151 xref: MESH:C536056 xref: ORDO:2783 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110938 name: autosomal dominant osteopetrosis 2 def: "An osteopetrosis characterized by autosomal dominant inheritance of sclerosis predominantly involving the spine, the pelvis, and the skull base, bone fragility and dental abscesses that has_material_basis_in mutation in the CLCN7 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11741829 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3588909 "DO"] synonym: "Albers-Schonberg osteopetrosis" EXACT [] synonym: "autosomal dominant Albers-Schonberg disease" BROAD [] synonym: "autosomal dominant osteopetrosis type 2" EXACT [] synonym: "autosomal dominant osteopetrosis, type II" EXACT [] synonym: "OPTA2" EXACT [] xref: GARD:383 xref: MIM:166600 xref: ORDO:53 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060564 ! spinal disease is_a: DOID:13533 ! osteopetrosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:0110939 name: autosomal recessive osteopetrosis 5 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in mutation in the OSTM1 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12627228 "DO"] synonym: "infantile malignant osteopetrosis 3" EXACT [] synonym: "OPTB5" EXACT [] xref: GARD:4153 xref: MESH:C566883 xref: MIM:259720 xref: MONDO:0009817 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110940 name: autosomal recessive osteopetrosis 8 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the SNX10 gene on chromosome 7p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22499339 "DO"] synonym: "OPTB8" EXACT [] xref: MIM:615085 xref: MONDO:0014040 xref: NCI:C150556 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110941 name: autosomal recessive osteopetrosis 3 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CA2 gene on chromosome 8q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1928091 "DO"] synonym: "autosomal recessive osteopetrosis 3 with renal tubular acidosis" EXACT [] synonym: "carbonic anhydrase 2 deficiency" EXACT [] synonym: "carbonic anhydrase II deficiency" EXACT [] synonym: "CARBONIC ANHYDRASE II VARIANT" RELATED [] synonym: "Guibaud Vainsel syndrome" EXACT [] synonym: "marble brain disease" EXACT [] synonym: "OPTB3" EXACT [] synonym: "osteopetrosis with renal tubular acidosis" EXACT [] xref: GARD:4154 xref: MESH:C536058 xref: MIM:259730 xref: MONDO:0009818 xref: NCI:C118438 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis is_a: DOID:14219 ! renal tubular acidosis is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:0110942 name: autosomal recessive osteopetrosis 1 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TCIRG1 gene on chromosome 11q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10888887 "DO"] synonym: "Albers-Schonberg Disease, Autosomal Recessive" EXACT [] synonym: "infantile malignant osteopetrosis 1" EXACT [] synonym: "Marble Bones, Autosomal Recessive" EXACT [] synonym: "OPTB1" EXACT [] synonym: "TCIRG1-RELATED CONDITION" EXACT [] xref: GARD:2579 xref: MESH:C564915 xref: MIM:259700 xref: MONDO:0009815 xref: NCI:C167215 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110943 name: autosomal recessive osteopetrosis 2 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous mutation in the TNFSF11 gene on chromosome 13q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17632511 "DO"] synonym: "mild autosomal recessive form of osteopetrosis" EXACT [] synonym: "OPTB2" EXACT [] synonym: "osteoclast-poor osteopetrosis" EXACT [] synonym: "osteopetrosis, mild autosomal recessive form" EXACT [] xref: GARD:4157 xref: MESH:C536059 xref: MIM:259710 xref: MONDO:0009816 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110944 name: autosomal recessive osteopetrosis 4 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the CLCN7 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11207362 "DO"] synonym: "infantile malignant osteopetrosis 2" EXACT [] synonym: "OPTB4" EXACT [] xref: GARD:5993 xref: MESH:C566933 xref: MIM:611490 xref: MONDO:0012676 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110945 name: autosomal recessive osteopetrosis 6 def: "An osteopetrosis characterized by autosomal recessive inheritance of that has_material_basis_in mutation in the PLEKHM1 gene on chromosome 17q21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17404618 "DO"] synonym: "OPTB6" EXACT [] synonym: "Osteopetrosis, Autosomal Recessive, Intermediate Form" EXACT [] xref: GARD:4156 xref: MESH:C566931 xref: MIM:611497 xref: MONDO:0012679 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:0110946 name: autosomal recessive osteopetrosis 7 def: "An osteopetrosis characterized by autosomal recessive inheritance that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF11A gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18606301 "DO"] synonym: "autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [] synonym: "autosomal recessive osteopetrosis type 7" EXACT [] synonym: "OPTB7" EXACT [] synonym: "osteoclast-poor osteopetrosis with hypogammaglobulinemia" EXACT [] synonym: "osteopetrosis-hypogammaglobulinemia syndrome" EXACT [] xref: GARD:10106 xref: MESH:C567354 xref: MIM:612301 xref: MONDO:0012859 xref: ORDO:178389 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13533 ! osteopetrosis is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:0110947 name: Waardenburg syndrome type 2B alt_id: MIM:600193 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 1p21-p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7951321 "DO"] synonym: "Waardenburg syndrome type IIB" EXACT [] synonym: "WS2B" EXACT [] xref: GARD:5522 xref: MESH:C536465 is_a: DOID:9002843 ! Waardenburg Syndrome Type 2 [Term] id: DOID:0110948 name: Waardenburg syndrome type 1 def: "A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1347148 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO"] synonym: "Waardenburg's syndrome type 1" EXACT [] synonym: "Waardenburg syndrome type I" EXACT [] synonym: "Waardenburg syndrome with dystopia canthorum" EXACT [] synonym: "WS1" EXACT [] xref: MIM:193500 xref: ORDO:894 is_a: DOID:9258 ! Waardenburg syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110949 name: Waardenburg syndrome type 3 def: "A Waardenburg syndrome characterized by upper limb anomalies, congenital hearing loss, dystopia canthorum and pigmentation anomalies of eyes, hair, and skin that has_material_basis_in heterozygous or homozygous mutation in the PAX3 gene on chromosome 2q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8447316 "DO"] synonym: "Klein Waardenburg syndrome" EXACT [] synonym: "Waardenburg syndrome, type III" EXACT [] synonym: "Waardenburg syndrome with upper limb anomalies" EXACT [] synonym: "WS3" EXACT [] xref: GARD:5523 xref: MIM:148820 xref: ORDO:896 is_a: DOID:9258 ! Waardenburg syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110950 name: Waardenburg syndrome type 2A alt_id: MIM:193510 alt_id: OMIA:001401 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutation in the MITF gene on chromosome 3p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7874167 "DO"] synonym: "Waardenburg syndrome, type IIA" EXACT [] synonym: "Waardenburg syndrome without dystopia canthorum" EXACT [] synonym: "WS2A" EXACT [] xref: GARD:5521 xref: MESH:C536464 is_a: DOID:0080578 ! digenic disease is_a: DOID:9002843 ! Waardenburg Syndrome Type 2 [Term] id: DOID:0110951 name: Waardenburg syndrome type 2C alt_id: MIM:606662 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in variation in the chromosome region 8p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11810298 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO"] synonym: "Waardenburg syndrome type IIC" EXACT [] synonym: "WS2C" EXACT [] xref: MESH:C564684 is_a: DOID:9002843 ! Waardenburg Syndrome Type 2 [Term] id: DOID:0110953 name: Waardenburg syndrome type 4A def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous or homozygous mutation in the EDNRB gene on chromosome 13q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8001158 "DO"] synonym: "Waardenburg syndrome type IVA" EXACT [] synonym: "WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4A" EXACT [] synonym: "WS4A" EXACT [] xref: MIM:277580 is_a: DOID:9005027 ! Waardenburg Syndrome Type 4 [Term] id: DOID:0110954 name: Waardenburg syndrome type 4B alt_id: MIM:613265 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in homozygous and heterozygous mutation in the EDN3 gene on chromosome 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8630502 "DO"] synonym: "Waardenburg syndrome type IVB" EXACT [] synonym: "Waardenburg syndrome with Hirschsprung disease type 4B" EXACT [] synonym: "WS4B" EXACT [] xref: MESH:C567680 is_a: DOID:9005027 ! Waardenburg Syndrome Type 4 [Term] id: DOID:0110955 name: Waardenburg syndrome type 4C alt_id: MIM:613266 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and Hirschsprung disease that has_material_basis_in heterozygous mutation in the SOX10 gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9462749 "DO"] synonym: "Waardenburg syndrome type IVC" EXACT [] synonym: "WAARDENBURG SYNDROME WITH HIRSCHSPRUNG DISEASE, TYPE 4C" EXACT [] synonym: "Waardenburg Syndrome With Hirschsprung Disease, Type 4c Waardenburg Syndrome, Type Ivc" EXACT [] synonym: "WS4C" EXACT [] xref: MESH:C567679 is_a: DOID:9005027 ! Waardenburg Syndrome Type 4 [Term] id: DOID:0110956 name: Waardenburg syndrome type 2E alt_id: MIM:611584 def: "A Waardenburg syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes, congenital sensorineural hearing loss, and absence of lateral displacement of the inner canthus of each eye that has_material_basis_in heterozygous mutations in the SOX10 gene on chromosome 22q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10441344 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20127975 "DO"] synonym: "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation" EXACT [] synonym: "Waardenburg Syndrome Type 2E, With Neurologic Involvement" EXACT [] synonym: "Waardenburg syndrome type 2E, with or without neurologic involvement" EXACT [] synonym: "Waardenburg Syndrome Type 2E, Without Neurologic Involvement" EXACT [] synonym: "Waardenburg syndrome type IIE" EXACT [] synonym: "WS2E" EXACT [] synonym: "WS2E with or without neurological involvement" EXACT [] synonym: "WS2E, with or without neurologic involvement" EXACT [] xref: MESH:C536463 is_a: DOID:9002843 ! Waardenburg Syndrome Type 2 [Term] id: DOID:0110957 name: Gaucher's disease type I def: "A Gaucher's disease characterized by absence of primary central nervous system involvement that has_material_basis_homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1897529 "DO"] synonym: "Gaucher's disease, type 1" EXACT [] synonym: "Gaucher disease, noncerebral juvenile" EXACT [] synonym: "Gaucher disease, non neuronopathic form" EXACT [] synonym: "Gaucher disease type 1" EXACT [] synonym: "Gaucher disease, type I" EXACT [] synonym: "GBA deficiency" EXACT [] synonym: "GD1" EXACT [] synonym: "GD I" EXACT [] synonym: "juvenile Gaucher disease" EXACT [] synonym: "non neuronopathic Gaucher disease" EXACT [] xref: GARD:2441 xref: MIM:230800 xref: MONDO:0009265 xref: ORDO:77259 is_a: DOID:1926 ! Gaucher's disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110958 name: Gaucher's disease type II alt_id: MIM:230900 def: "A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10649495 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2880291 "DO"] synonym: "acute cerebral Gaucher disease" EXACT [] synonym: "acute neuronopathic Gaucher disease" EXACT [] synonym: "Gaucher disease, acute neuronopathic type" EXACT [] synonym: "Gaucher disease type 2" EXACT [] synonym: "Gaucher disease, type II" EXACT [] synonym: "GD2" EXACT [] synonym: "GD II" EXACT [] synonym: "infantile cerebral Gaucher disease" EXACT [] xref: MESH:C531689 xref: ORDO:77260 is_a: DOID:1926 ! Gaucher's disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:0110959 name: Gaucher's disease type III def: "A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2378352 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8413956 "DO"] synonym: "Gaucher disease, chronic neuronopathic type" EXACT [] synonym: "Gaucher disease, juvenile and adult, cerebral" EXACT [] synonym: "Gaucher disease, subacute neuronopathic form" EXACT [] synonym: "Gaucher disease, subacute neuronopathic type" EXACT [] synonym: "Gaucher disease type 3" EXACT [] synonym: "Gaucher disease type III" EXACT [] synonym: "GD3" EXACT [] synonym: "GD III" EXACT [] synonym: "subacute neuronopathic Gaucher disease" EXACT [] xref: GARD:2443 xref: MESH:C565554 xref: MIM:231000 xref: MONDO:0009267 xref: ORDO:77261 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110960 name: Gaucher's disease perinatal lethal alt_id: MIM:608013 def: "A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12838552 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1437405 "DO"] synonym: "Gaucher disease, collodion type" EXACT [] synonym: "Gaucher disease, fetal" EXACT [] synonym: "GAUCHER DISEASE, PERINATAL LETHAL" EXACT [] xref: MESH:C564306 xref: ORDO:85212 is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110961 name: atypical Gaucher's disease due to saposin C deficiency alt_id: MIM:610539 def: "A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17919309 "DO"] synonym: "atypical Gaucher disease due to saposin C deficiency" EXACT [] synonym: "GDSAPC" EXACT [] xref: MESH:C566435 xref: ORDO:309252 is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:0110962 name: brachydactyly-preaxial hallux varus syndrome def: "A brachydactyly characterized by autosomal dominant inheritance of short thumbs and first toes with abduction of these digits, the shortening involves the metacarpals, metatarsals, and distal phalanges. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5082920 "DO"] synonym: "Christian brachydactyly" EXACT [] synonym: "dominant preaxial brachydactyly with hallux varus and thumb abduction" EXACT [] synonym: "preaxial brachydactyly with hallux varus and thumb abduction" EXACT [] xref: MESH:C537087 xref: MIM:112450 xref: MONDO:0007214 xref: ORDO:1278 is_a: DOID:0050581 ! brachydactyly is_a: DOID:9002707 ! Hallux Varus [Term] id: DOID:0110963 name: Ballard syndrome alt_id: MIM:112440 alt_id: RDO:0002868 def: "A brachydactyly characterized by autosomal dominant inheritance of hypoplasia of the distal phalanges of the ulnar side of the hand and shortening of one or more metacarpals but normal stature. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4009643 "DO"] synonym: "Brachydactyly Ballard type" EXACT [] synonym: "Brachydactyly Types B and E Combined" EXACT [] synonym: "Pitt Williams brachydactyly" EXACT [] xref: MESH:C537094 xref: ORDO:93395 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110964 name: brachydactyly type A1 def: "A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12525541 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14043746 "DO"] synonym: "BDA1" EXACT [] synonym: "Farabee-Type Brachydactyly" EXACT [] synonym: "IHH-RELATED CONDITION" BROAD [] synonym: "SHORT STATURE WITH NONSPECIFIC SKELETAL ABNORMALITIES 2" EXACT [] synonym: "SNSK2" EXACT [] xref: GARD:978 xref: MESH:C537088 xref: MIM:112500 xref: MONDO:0007215 xref: ORDO:93388 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110965 name: brachydactyly type A2 alt_id: MIM:112600 def: "A brachydactyly characterized by autosomal dominant inheritance of malformations of the middle phalanx of the index finger and anomalies of the second toe that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q or in the GDF5 gene on chromosome 20q11 or heterozygous duplication in a regulatory element of BMP2 on chromosome 20p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14523231 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16127465 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21357617 "DO"] synonym: "BDA2" EXACT [] synonym: "brachymesophalangy 2" EXACT [] synonym: "brachymesophalangy II" EXACT [] synonym: "Mohr-Wriedt type brachydactyly" EXACT [] xref: GARD:979 xref: MESH:C537089 xref: ORDO:93396 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110966 name: brachydactyly type A3 alt_id: MIM:112700 alt_id: RDO:0002864 def: "A brachydactyly characterized by shortening of the middle phalanx of the fifth finger resulting in radial curvature of the fifth finger. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7416253 "DO"] synonym: "BDA3" EXACT [] synonym: "brachydactyly-clinodactyly" EXACT [] synonym: "brachymesophalangy 5" EXACT [] synonym: "brachymesophalangy V" EXACT [] xref: GARD:963 xref: MESH:C537090 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110967 name: brachydactyly type A4 alt_id: MIM:112800 alt_id: RDO:0002871 def: "A brachydactyly characterized by autosomal dominant inheritance of hypoplastic middle phalanges, brachymesophalangy affecting mainly the 2nd and 5th digits and congenital talipes calcaneovalgus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4325377 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5663738 "DO"] synonym: "BDA4" EXACT [] synonym: "brachymesophalangy 2 and 5" EXACT [] synonym: "brachymesophalangy II and V" EXACT [] synonym: "temtamy type brachydactyly" EXACT [] xref: GARD:990 xref: MESH:C537097 xref: ORDO:93394 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110968 name: brachydactyly type A6 alt_id: MIM:112910 alt_id: RDO:0002866 def: "A brachydactyly characterized by brachymesophalangy with mesomelic short limbs, absence or hypoplasia of second phalanges with synostosis of the remaining phalanges, and carpal and tarsal coalitions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4073129 "DO"] synonym: "BDA6" EXACT [] synonym: "brachymesophalangy with mesomelic short limbs and carpal and tarsal osseous abnormalities" EXACT [] synonym: "Osebold-Remondini syndrome" EXACT [] xref: GARD:983 xref: MESH:C537092 xref: ORDO:93382 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:0110969 name: brachydactyly type B1 alt_id: MIM:113000 def: "A brachydactyly characterized by short middle phalanges, rudimentary or absent terminal phalanges and nail aplasia that has_material_basis_in heterozygous mutation in the ROR2 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10700182 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9973295 "DO"] synonym: "BDB" EXACT [] synonym: "BDB1" EXACT [] synonym: "brachydactyly, type B" EXACT [] synonym: "ROR2-RELATED CONDITION" BROAD [] xref: MESH:C566196 is_a: DOID:0050581 ! brachydactyly is_a: DOID:630 ! genetic disease [Term] id: DOID:0110970 name: brachydactyly type C alt_id: MIM:113100 def: "A brachydactyly characterized by rachymesophalangy of the index, middle and little fingers, hyperphalangy of the index and middle finger, and shortening of the 1st metacarpal that has_material_basis_in heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9288091 "DO"] synonym: "BDC" EXACT [] synonym: "brachydactyly, Haws type" EXACT [] xref: GARD:986 xref: MESH:C537093 xref: ORDO:93384 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110971 name: brachydactyly type D alt_id: MIM:113200 def: "A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12649808 "DO"] synonym: "BDD" EXACT [] synonym: "stub thumb" EXACT [] xref: MESH:C562420 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0110972 name: brachydactyly type E1 def: "A brachydactyly characterized by shortening of the fingers,mainly in the metacarpals and metatarsals, that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12649808 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8933344 "DO"] synonym: "BDE1" EXACT [] synonym: "BRACHYDACTYLY SYNDROME TYPE E" EXACT [] xref: MIM:113300 is_a: DOID:630 ! genetic disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006432 ! Brachydactyly, Type E [Term] id: DOID:0110973 name: Mononen-Karnes-Senac syndrome alt_id: MIM:301940 def: "A brachydactyly characterized by short, abducted thumbs and great toes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1632443 "DO"] synonym: "Mononen type brachydactyly" EXACT [] synonym: "short and abducted thumbs and great toes" EXACT [] xref: MESH:C535914 xref: ORDO:2565 is_a: DOID:0050581 ! brachydactyly is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0110974 name: brachydactyly type A1B alt_id: MIM:607004 def: "A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11897820 "DO"] synonym: "BDA1B" EXACT [] xref: MESH:C564635 xref: RDO:0013528 is_a: DOID:0110964 ! brachydactyly type A1 is_a: DOID:630 ! genetic disease [Term] id: DOID:0110975 name: brachydactyly type B2 alt_id: RDO:0009521 def: "A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17668388 "DO"] synonym: "BDB2" EXACT [] xref: ICD10CM:Q73.8 xref: MIM:611377 xref: ORDO:140908 is_a: DOID:0050581 ! brachydactyly is_a: DOID:630 ! genetic disease [Term] id: DOID:0110976 name: brachydactyly type E2 def: "A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20015959 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20170896 "DO"] synonym: "BDE2" EXACT [] xref: MIM:613382 is_a: DOID:630 ! genetic disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006432 ! Brachydactyly, Type E [Term] id: DOID:0110977 name: brachydactyly type A1C alt_id: RDO:9000200 def: "A brachydactyly type A1 has_material_basis_in homozygous or heterozygous mutation in the GDF5 gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20683927 "DO"] synonym: "BDA1C" EXACT [] synonym: "BRACHYDACTYLY, TYPE A1, C" EXACT [] xref: MIM:615072 is_a: DOID:0110964 ! brachydactyly type A1 is_a: DOID:630 ! genetic disease [Term] id: DOID:0110978 name: brachydactyly type A1D alt_id: RDO:9000376 def: "A brachydactyly type A1 that has_material_basis_in heterozygous mutation in the BMPR1B gene on chromosome 4q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25758993 "DO"] synonym: "BDA1D" EXACT [] synonym: "brachydactyly type A1, D" EXACT [] xref: MIM:616849 is_a: DOID:0110964 ! brachydactyly type A1 is_a: DOID:630 ! genetic disease [Term] id: DOID:0110979 name: Sugarman brachydactyly def: "A brachydactyly characterized by a nonarticulating great toe set dorsal and proximal to the typical position. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7083610 "DO"] synonym: "brachydactyly with major proximal phalangeal shortening" EXACT [] xref: GARD:5058 xref: MIM:272150 xref: ORDO:498602 is_a: DOID:0050581 ! brachydactyly created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0110980 name: Joubert syndrome 1 alt_id: MIM:213300 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19668216 "DO"] synonym: "agenesis of cerebellar vermis" EXACT [] synonym: "cerebellar vermis agenesis" EXACT [] synonym: "Cerebello-Oculo-Renal Syndrome" EXACT [] synonym: "Cerebellooculorenal syndrome 1" EXACT [] synonym: "Cerebelloparenchymal disorder 4" EXACT [] synonym: "cerebelloparenchymal disorder IV" EXACT [] synonym: "CORS1" EXACT [] synonym: "CPD4" EXACT [] synonym: "familial aplasia of the vermis" EXACT [] synonym: "INPP5E-RELATED CONDITION" BROAD [] synonym: "JBTS1" EXACT [] synonym: "Joubert-Boltshauser syndrome" EXACT [] xref: MESH:C536293 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0110981 name: Joubert syndrome 10 def: "A Joubert syndrome that has_material_basis_in X-linked recessive inheritance of mutation in the OFD1 gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19800048 "DO"] synonym: "JBTS10" EXACT [] xref: MESH:C567582 xref: MIM:300804 xref: MONDO:0010431 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:0110982 name: Joubert Syndrome 13 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21725307 "DO"] synonym: "JBTS13" EXACT [] xref: MIM:614173 xref: RDO:9000484 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110983 name: Joubert syndrome 14 def: "A Joubert syndrome characterized by severe mental retardation, hypoplasia of the cerebellar vermis and molar tooth sign on brain imaging, hypotonia, abnormal breathing pattern in infancy, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM237 gene on chromosome 2q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17603801 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22152675 "DO"] synonym: "JBTS14" EXACT [] synonym: "TMEM237-RELATED CONDITION" EXACT [] xref: MIM:614424 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0110984 name: Joubert syndrome 15 def: "A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22246503 "DO"] synonym: "JBTS15" EXACT [] synonym: "JOUBERT SYNDROME 12/15, DIGENIC" NARROW [] synonym: "JOUBERT SYNDROME 9/15, DIGENIC" NARROW [] xref: MIM:614464 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0080578 ! digenic disease is_a: DOID:1059 ! intellectual disability [Term] id: DOID:0110985 name: Joubert Syndrome 16 def: "A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22282472 "DO"] synonym: "JBTS16" EXACT [] xref: MIM:614465 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110986 name: Joubert Syndrome 17 def: "A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26092869 "DO"] synonym: "CPLANE1-RELATED CONDITION" BROAD [] synonym: "JBTS17" EXACT [] xref: MIM:614615 xref: MONDO:0013824 xref: NCI:C175702 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110987 name: Joubert Syndrome 18 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the TCTN3 gene on chromosome 10q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22883145 "DO"] synonym: "JBTS18" EXACT [] xref: MIM:614815 xref: MONDO:0013896 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110988 name: Joubert Syndrome 2 alt_id: MIM:608091 def: "A Joubert syndrome characterized by molar tooth sign on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities that has_material_basis_in mutation in the TMEM216 gene on chromosome 11q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20036350 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9373798 "DO"] synonym: "Cerebellooculorenal syndrome 2" EXACT [] synonym: "CORS2" EXACT [] synonym: "JBTS2" EXACT [] synonym: "JOUBERT SYNDROME TYPE 2" EXACT [] xref: GARD:10167 xref: MESH:C536294 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0110989 name: Joubert syndrome 20 def: "A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23012439 "DO"] synonym: "JBTS20" EXACT [] xref: MIM:614970 xref: RDO:9000490 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110990 name: Joubert syndrome 21 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CSPP1 gene on chromosome 8q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24360808 "DO"] synonym: "JBTS21" EXACT [] xref: MIM:615636 xref: RDO:9001022 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110991 name: Joubert syndrome 22 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the PDE6D gene on chromosome 2q37. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24166846 "DO"] synonym: "JBTS22" EXACT [] xref: MIM:615665 is_a: DOID:0050777 ! Joubert syndrome [Term] id: DOID:0110992 name: Joubert syndrome 23 def: "A Joubert syndrome characterized by delayed development, abnormal eye movements, and abnormal breathing pattern, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA0586 gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26096313 "DO"] synonym: "JBTS23" EXACT [] synonym: "KIAA0586-RELATED CONDITION" BROAD [] xref: MIM:616490 is_a: DOID:0050777 ! Joubert syndrome created_by: rgd creation_date: 2016-11-09T00:00:00Z [Term] id: DOID:0110993 name: Joubert syndrome 24 def: "A Joubert syndrome characterized by delayed psychomotor development and molar tooth sign on brain MRI that has_material_basis_in homozygous mutation in the TCTN2 gene on chromosome 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21565611 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25118024 "DO"] synonym: "JBTS24" EXACT [] synonym: "TCTN2-RELATED DISORDER" BROAD [] synonym: "TCTN2-RELATED DISORDERS" BROAD [] xref: MIM:616654 xref: MONDO:0014724 is_a: DOID:0050777 ! Joubert syndrome created_by: rgd creation_date: 2015-12-08T00:00:00Z [Term] id: DOID:0110994 name: Joubert syndrome 25 def: "A Joubert syndrome characterized by delayed psychomotor development, oculomotor apraxia, and molar tooth sign on brain MRI that has_material_basis_in homozygous or compound heterozygous mutation in the CEP104 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26477546 "DO"] synonym: "JBTS25" EXACT [] xref: MIM:616781 is_a: DOID:0050777 ! Joubert syndrome created_by: rgd creation_date: 2016-03-10T00:00:00Z [Term] id: DOID:0110995 name: Joubert Syndrome 26 def: "A Joubert syndrome characterized by global developmental delay and cerebellar hypoplasia that has_material_basis_in homozygous mutation in the KIAA0556 gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26714646 "DO"] synonym: "JBTS26" EXACT [] synonym: "KATNIP-RELATED CONDITION" EXACT [] xref: MIM:616784 is_a: DOID:0050777 ! Joubert syndrome created_by: rgd creation_date: 2016-03-11T00:00:00Z [Term] id: DOID:0110996 name: Joubert Syndrome 27 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the B9D1 gene on chromosome 17p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24886560 "DO"] synonym: "JBTS27" EXACT [] xref: MIM:617120 xref: RDO:9001266 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2016-10-11T00:00:00Z [Term] id: DOID:0110997 name: Joubert Syndrome 28 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the MKS1 gene on chromosome 17q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24886560 "DO"] synonym: "JBTS28" EXACT [] xref: MIM:617121 xref: RDO:9001267 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1059 ! intellectual disability created_by: rgd creation_date: 2016-10-11T00:00:00Z [Term] id: DOID:0110998 name: Joubert syndrome 3 alt_id: MIM:608629 def: "A Joubert syndrome that has_material_basis_in homozygous mutation in the AHI1 gene on chromosome 6q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15322546 "DO"] synonym: "JBTS3" EXACT [] xref: MESH:C536295 xref: NCI:C148259 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1279 ! ocular motility disease is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:0110999 name: Joubert syndrome 4 def: "A Joubert syndrome that has_material_basis_in deletions of the NPHP1 gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15138899 "DO"] synonym: "JBTS4" EXACT [] synonym: "Joubert syndrome with renal defect" EXACT [] xref: GARD:10169 xref: MESH:C536296 xref: MIM:609583 xref: MONDO:0012308 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0111000 name: Joubert syndrome 5 alt_id: MIM:610188 def: "A Joubert syndrome that has_material_basis_in mutation in the CEP290 gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16682973 "DO"] synonym: "JBTS5" EXACT [] xref: MESH:C537688 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1279 ! ocular motility disease is_a: DOID:557 ! kidney disease is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:0111001 name: Joubert syndrome 6 alt_id: MIM:610688 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160906 "DO"] synonym: "JBTS6" EXACT [] xref: MESH:C537689 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1279 ! ocular motility disease is_a: DOID:557 ! kidney disease [Term] id: DOID:0111002 name: Joubert syndrome 7 alt_id: MIM:611560 def: "A Joubert syndrome that has_material_basis_in mutation in the RPGRIP1L gene on chromosome 16q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17558409 "DO"] synonym: "JBTS7" EXACT [] xref: MESH:C566916 xref: NCI:C159653 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:1279 ! ocular motility disease is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0111003 name: Joubert syndrome 8 alt_id: MIM:612291 def: "A Joubert syndrome that has_material_basis_in mutation in the ARL13B gene on chromosome 3q11.1-q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18674751 "DO"] synonym: "JBTS8" EXACT [] xref: MESH:C567358 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0111004 name: Joubert syndrome 9 alt_id: MIM:612285 def: "A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CC2D2A gene on chromosome 4p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18387594 "DO"] synonym: "CC2D2A-RELATED DISORDER" BROAD [] synonym: "JBTS9" EXACT [] synonym: "JOUBERT SYNDROME 9/15, DIGENIC" NARROW [] xref: MESH:C567364 xref: NCI:C181002 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0080578 ! digenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:557 ! kidney disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0111005 name: cone-rod dystrophy 2 alt_id: OMIA:001675 def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9390563 "DO"] synonym: "CORD2" EXACT [] synonym: "CRD2" EXACT [] synonym: "RCRD2" EXACT [] synonym: "retinal cone-rod dystrophy 2" EXACT [] xref: GARD:6145 xref: MIM:120970 xref: NCI:C162399 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111006 name: X-linked cone-rod dystrophy 2 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region Xq27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9199568 "DO"] synonym: "COD2" EXACT [] synonym: "CONE DYSTROPHY 2, X-LINKED" EXACT [] synonym: "CORDX2" EXACT [] synonym: "X-LINKED CONE-ROD DYSTROPHY" BROAD [] xref: MESH:C564717 xref: MIM:300085 xref: MONDO:0010245 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111007 name: X-linked cone-rod dystrophy 3 alt_id: MIM:300476 alt_id: RDO:0013449 def: "A cone-rod dystrophy that has_material_basis_in mutation in the CACNA1F gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16505158 "DO"] synonym: "CORDX3" EXACT [] synonym: "X-LINKED CONE-ROD DYSTROPHY" BROAD [] xref: MESH:C564507 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111008 name: X-linked cone-rod dystrophy 1 def: "A cone-rod dystrophy that has_material_basis_in mutation in an alternative terminal exon 15 of the RPGR gene on chromosome Xp11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11857109 "DO"] synonym: "COD1" EXACT [] synonym: "CORDX1" EXACT [] synonym: "X-linked cone dystrophy 1" EXACT [] synonym: "X-linked cone-rod dystrophy" BROAD [] synonym: "X-linked cone-rod dystrophy, type 1" EXACT [] xref: MESH:C564438 xref: MESH:C564439 xref: MIM:304020 xref: MONDO:0010566 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111009 name: cone-rod dystrophy 1 alt_id: MIM:600624 alt_id: OMIA:001674 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 18q21.1-q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1867279 "DO"] synonym: "CORD1" EXACT [] synonym: "CRD1" EXACT [] xref: GARD:10651 xref: MESH:C563469 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111010 name: cone-rod dystrophy 5 alt_id: MIM:600977 def: "A cone-rod dystrophy that has_material_basis_in mutation in the PITPNM3 gene in chromosome region 17p13.2-p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17377520 "DO"] synonym: "CORD5" EXACT [] xref: MESH:C563415 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111011 name: cone-rod dystrophy 6 alt_id: MIM:601777 def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9618177 "DO"] synonym: "Cone degeneration, autosomal dominant progressive" EXACT [] synonym: "CORD6" EXACT [] synonym: "RCD2" EXACT [] synonym: "retinal cone dystrophy 2" EXACT [] xref: GARD:10656 xref: MESH:C538363 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111012 name: cone-rod dystrophy 7 alt_id: MIM:603649 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 6q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35947379/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/12659814 "DO"] synonym: "CORD7" EXACT [] xref: MESH:C566350 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111013 name: cone-rod dystrophy 3 alt_id: MIM:604116 alt_id: OMIA:001520 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA4 gene on chromosome 1p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9466990 "DO"] synonym: "CORD3" EXACT [] xref: GARD:10653 xref: MESH:C565827 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111014 name: cone-rod dystrophy 8 alt_id: MIM:605549 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 1q12-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11053266 "DO"] synonym: "CORD8" EXACT [] xref: MESH:C565322 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111015 name: Newfoundland cone-rod dystrophy alt_id: MIM:607476 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the RLBP1 gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11868161 "DO"] synonym: "NFRCD" EXACT [] xref: MESH:C564391 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111016 name: cone-rod dystrophy 13 alt_id: MIM:608194 alt_id: OMIA:001432 def: "A cone-rod dystrophy that has_material_basis_in mutation in the RPGRIP1 gene on chromosome 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12920076 "DO"] synonym: "cone-rod dystrophy 4" EXACT [] synonym: "CORD13" EXACT [] xref: MESH:C567698 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111017 name: cone-rod dystrophy 10 alt_id: MIM:610283 def: "A cone-rod dystrophy that has_material_basis_in compound heterozygous mutation in the SEMA4A gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16199541 "DO"] synonym: "CORD10" EXACT [] xref: MESH:C564597 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111018 name: cone-rod dystrophy 11 alt_id: MIM:610381 def: "A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the RAX2 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25789692 "DO"] synonym: "CORD11" EXACT [] xref: MESH:C563671 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111019 name: cone-rod dystrophy 12 alt_id: MIM:612657 def: "A cone-rod dystrophy that has_material_basis_in homozygous or heterozygous mutation in the PROM1 gene on chromosome 4p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35947379/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/18654668 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24474277 "DO"] synonym: "CORD12" EXACT [] xref: MESH:C567206 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111020 name: cone-rod dystrophy 9 alt_id: RDO:0009706 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM9 gene on chromosome 8p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19409519 "DO"] synonym: "CORD9" EXACT [] xref: MIM:612775 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111021 name: cone-rod dystrophy 15 def: "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the CDHR1 gene on chromosome 10q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20805371 "DO"] synonym: "CDHR1-RELATED CONDITION" BROAD [] synonym: "CORD15" EXACT [] synonym: "MACULAR DYSTROPHY, RETINAL, 5" RELATED [] synonym: "MCDR5" RELATED [] synonym: "RETINITIS PIGMENTOSA 65" RELATED [] synonym: "RP65" RELATED [] xref: MIM:613660 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111022 name: cone-rod dystrophy 16 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26865426 "DO"] synonym: "C8ORF37-RELATED DISORDER" BROAD [] synonym: "CFAP418-RELATED CONDITION" BROAD [] synonym: "CORD16" EXACT [] synonym: "RETINAL DYSTROPHY WITH EARLY MACULAR INVOLVEMENT" RELATED [] synonym: "retinitis pigmentosa 64" RELATED [] synonym: "RP64" RELATED [] xref: MIM:614500 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111023 name: cone-rod dystrophy 17 def: "A cone-rod dystrophy that has_material_basis_in variation in the chromosome region 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22929024 "DO"] synonym: "CORD17" EXACT [] xref: MIM:615163 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:0111024 name: cone-rod dystrophy 18 def: "A cone-rod dystrophy that has_material_basis_in homozygous mutation in the RAB28 gene on chromosome 4p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23746546 "DO"] synonym: "CORD18" EXACT [] xref: MIM:615374 is_a: DOID:0050572 ! cone-rod dystrophy [Term] id: DOID:0111025 name: cone-rod dystrophy 19 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24791901 "DO"] synonym: "CORD19" EXACT [] synonym: "TTLL5-RELATED CONDITION" EXACT [] xref: MIM:615860 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111026 name: cone-rod dystrophy 20 def: "A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the POC1B gene on chromosome 12q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24945461 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25018096 "DO"] synonym: "CORD 20" EXACT [] synonym: "CORD20" EXACT [] xref: MIM:615973 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:0111027 name: hemochromatosis type 2A def: "A hemochromatosis type 2 that has_material_basis_in homozygous or compound heterozygous mutation in the HJV gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14647275 "DO"] synonym: "hemochromatosis type 2a, modifier of" RELATED [] synonym: "HFE2A" EXACT [] synonym: "HJV-RELATED CONDITION" EXACT [] xref: MIM:602390 is_a: DOID:0111034 ! hemochromatosis type 2 created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0111028 name: hemochromatosis type 4 alt_id: MIM:606069 def: "A hemochromatosis that has_material_basis_in heterozygous mutation in the SLC40A1 gene on chromosome 2q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11431687 "DO"] synonym: "autosomal dominant hereditary hemochromatosis" EXACT [] synonym: "ferroportin disease" EXACT [] synonym: "hemochromatosis, autosomal dominant" EXACT [] synonym: "hemochromatosis due to defect in ferroportin" EXACT [] synonym: "HFE4" EXACT [] xref: GARD:10094 xref: MESH:C537249 xref: ORDO:139491 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111029 name: hemochromatosis type 1 def: "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the HFE gene on chromosome 6p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8696333 "DO"] synonym: "hemochromatosis type 1, modifier of" RELATED [] synonym: "hereditary hemochromatosis type 1" EXACT [] synonym: "HFE1" EXACT [] synonym: "symptomatic form of classic hemochromatosis" EXACT [] synonym: "symptomatic form of hemochromatosis type 1" EXACT [] synonym: "symptomatic form of HFE-related hereditary hemochromatosis" EXACT [] xref: EFO:0006513 xref: GARD:10417 xref: MIM:235200 xref: ORDO:465508 is_a: DOID:2352 ! hemochromatosis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:0111030 name: hemochromatosis type 3 alt_id: MIM:604250 def: "A hemochromatosis that has_material_basis_in homozygous or compound heterozygous mutation in the TFR2 gene on chromosome 7q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10802645 "DO"] synonym: "Hemochromatosis due to defect in transferrin receptor 2" EXACT [] synonym: "hereditary hemochromatosis type 3" EXACT [] synonym: "HFE3" EXACT [] synonym: "TFR2-related hemochromatosis" EXACT [] xref: GARD:10093 xref: MESH:C537248 xref: ORDO:225123 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111031 name: hemochromatosis type 5 alt_id: MIM:615517 def: "A hemochromatosis that has_material_basis_in heterozygous mutation in the FTH1 gene on chromosome 11q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11389486 "DO"] synonym: "FTH1-associated iron overload" EXACT [] synonym: "FTH1-related iron overload" EXACT [] synonym: "HEREDITARY HEMOCHROMATOSIS TYPE 5" EXACT [] synonym: "HFE5" EXACT [] synonym: "iron overload, autosomal dominant" EXACT [] xref: MESH:C565020 xref: ORDO:247790 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111032 name: hemochromatosis type 2B alt_id: MIM:613313 def: "A hemochromatosis type 2 that has_material_basis_in homozygous mutation in the HAMP gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12469120 "DO"] synonym: "HAMP-RELATED CONDITION" EXACT [] synonym: "HFE2B" EXACT [] xref: MESH:C566557 is_a: DOID:0111034 ! hemochromatosis type 2 [Term] id: DOID:0111033 name: African iron overload alt_id: MIM:601195 alt_id: RDO:0003819 def: "A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10607817 "DO"] synonym: "Bantu siderosis" EXACT [] synonym: "Hereditary iron overload and African Americans" EXACT [] synonym: "Iron overload in Africa" EXACT [] xref: ICD10CM:E83.1 xref: MESH:C537904 xref: ORDO:139507 is_a: DOID:2352 ! hemochromatosis is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:0111034 name: hemochromatosis type 2 def: "A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1170/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10205270 "DO"] synonym: "HFE2" EXACT [] synonym: "JH" EXACT [] synonym: "JHH" EXACT [] synonym: "juvenile hemochromatosis" EXACT [] xref: GARD:10092 xref: MESH:C537247 xref: ORDO:79230 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:0111035 name: CADASIL 1 def: "A CADASIL characterized by migraine, strokes, and white matter lesions that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10476042 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8878478 "DO"] synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1" EXACT [] synonym: "CADASIL1" EXACT [] synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1" EXACT [] synonym: "hereditary dementia, multi-infarct type" EXACT [] synonym: "RECURRENT SUBCORTICAL INFARCTS" NARROW [] xref: MIM:125310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13945 ! CADASIL created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0111036 name: CADASIL2 def: "A CADASIL characterized by stroke, transient ischemic attacks, cognitive impairment, dementia, balance impairment, gait disturbance, headaches, and/or seizures associated with early confluent or confluent diffuse white matter hyperintensities that has_material_basis_in heterozygous mutation in the HTRA1 gene on chromosome 10q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26063658 "DO"] synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" EXACT [] synonym: "CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 2" EXACT [] synonym: "CEREBRAL ARTERIOPATHY WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY 2" EXACT [] synonym: "HTRA1-RELATED AUTOSOMAL DOMINANT CEREBRAL SMALL VESSEL DISEASE" EXACT [] xref: ICD10CM:F01.1 xref: MIM:616779 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13945 ! CADASIL created_by: rgd creation_date: 2016-02-09T00:00:00Z [Term] id: DOID:0111037 name: glycine N-methyltransferase deficiency alt_id: RDO:9004224 def: "A hypermethioninemia characterized by autosomal recessive inheritance of persistent isolated hypermethioninemia without cystathionine beta-synthase deficiency, tyrosinemia type I, or liver disease that has_material_basis_in homozygous or compound heterozygous mutation in the GNMT gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1159664 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11810299 "DO"] synonym: "GNMT deficiency" EXACT [] synonym: "hypermethioninemia due to glycine N-methyltransferase deficiency" EXACT [] synonym: "hypermethioninemia due to GNMT deficiency" EXACT [] xref: GARD:10764 xref: MIM:606664 xref: ORDO:289891 is_a: DOID:0050544 ! hypermethioninemia created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0111038 name: hypermethioninemia due to adenosine kinase deficiency alt_id: MESH:C567015 def: "A hypermethioninemia characterized by autosomal recessive inheritance of developmental delay, early-onset seizures, mild dysmorphic features, and characteristic biochemical anomalies, including persistent hypermethioninemia that has_material_basis_in homozygous mutation in the ADK gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17120046 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21963049 "DO"] synonym: "ADK hypermethioninemia" EXACT [] synonym: "ADK-RELATED CONDITION" EXACT [] synonym: "autosomal recessive mental retardation 8" EXACT [] synonym: "hypermethioninemia encephalopathy due to adenosine kinase deficiency" EXACT [] synonym: "hypermethioninemia encephalopathy due to ADK deficiency" EXACT [] synonym: "MRT8" EXACT [] xref: ICD10CM:E72.1 xref: MIM:614300 xref: ORDO:289290 is_a: DOID:0050544 ! hypermethioninemia is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0111039 name: hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase def: "A hypermethioninemia characterized by autosomal recessive inheritance of psychomotor delay, severe myopathy, hypermethioninaemia and elevated serum creatine kinase levels that has_material_basis_in compound heterozygous mutation in the AHCY gene on chromosome 20q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15024124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2380820 "DO"] synonym: "hypermethioninemia due to S-adenosylhomocysteine hydrolase deficiency" EXACT [] synonym: "hypermethioninemia with S-adenosylhomocysteine hydrolase deficiency" EXACT [] synonym: "psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency" EXACT [] xref: GARD:13177 xref: MIM:613752 xref: ORDO:88618 is_a: DOID:0050544 ! hypermethioninemia created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:0111040 name: glycogen storage disease IXD alt_id: MIM:300559 def: "A glycogen storage disease IX that is characterized by X-linked inheritance of variable exercise-induced muscle weakness or stiffness that has_material_basis_in mutation in the PHKA1 gene on chromosome Xq13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22238410 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7874115 "DO"] synonym: "glycogenosis due to muscle phosphorylase kinase deficiency" EXACT [] synonym: "glycogenosis type 9D" EXACT [] synonym: "glycogenosis type 9E" EXACT [] synonym: "glycogenosis type IXd" EXACT [] synonym: "glycogenosis type IXe" EXACT [] synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [] synonym: "glycogen storage disease type 9D" EXACT [] synonym: "glycogen storage disease type 9E" EXACT [] synonym: "glycogen storage disease type IXd" EXACT [] synonym: "glycogen storage disease type IXe" EXACT [] synonym: "GSD9D" EXACT [] synonym: "GSD due to muscle phosphorylase kinase deficiency" EXACT [] synonym: "GSD IXD" EXACT [] synonym: "GSD type 9D" EXACT [] synonym: "GSD type 9E" EXACT [] synonym: "GSD type IXd" EXACT [] synonym: "GSD type IXe" EXACT [] synonym: "Muscle Phosphorylase Kinase Deficiency" EXACT [] synonym: "PHKA1-RELATED CONDITION" EXACT [] synonym: "X-linked muscke glycogenosis" EXACT [] synonym: "X-linked muscle glycogenosis" EXACT [] xref: MESH:C564485 xref: ORDO:715 is_a: DOID:0050594 ! glycogen storage disease IX is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111041 name: glycogen storage disease IXB def: "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, short stature, hypotonia and accumulation of glycogen in both liver and muscle, without clinical symptoms, that has_material_basis_in compound heterozygous mutation in the PHKB gene on chromosome 16q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25266922 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9215682 "DO"] synonym: "glycogenosis due to liver and muscle phosphorylase kinase deficiency" EXACT [] synonym: "glycogenosis of liver and muscle, autosomal recessive" EXACT [] synonym: "glycogenosis type 9B" EXACT [] synonym: "glycogenosis type IXb" EXACT [] synonym: "glycogen storage disease type 9B" EXACT [] synonym: "glycogen storage disease type IXb" EXACT [] synonym: "GSD9B" EXACT [] synonym: "GSD due to liver and muscle phosphorylase kinase deficiency" EXACT [] synonym: "GSD IXB" EXACT [] synonym: "GSD type 9B" EXACT [] synonym: "GSD type IXb" EXACT [] synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" EXACT [] xref: MESH:C563008 xref: MIM:261750 xref: MONDO:0009868 xref: ORDO:79240 is_a: DOID:0050594 ! glycogen storage disease IX [Term] id: DOID:0111042 name: glycogen storage disease IXA alt_id: MESH:C564421 alt_id: MESH:C567579 def: "A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2303074 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7711737 "DO"] synonym: "glycogenosis type 9A" EXACT [] synonym: "glycogenosis type IXa" EXACT [] synonym: "glycogen storage disease IXa1" NARROW [] synonym: "glycogen storage disease IXa2" NARROW [] synonym: "glycogen storage disease type 9A" EXACT [] synonym: "glycogen storage disease type IXa" EXACT [] synonym: "glycogen storage disease type IXA1" NARROW [] synonym: "glycogen storage disease type IXA2" NARROW [] synonym: "glycogen storage disease VIII (formerly)" RELATED [] synonym: "GSD8 (formerly)" RELATED [] synonym: "GSD9A" EXACT [] synonym: "GSD9A1" NARROW [] synonym: "GSD9A2" NARROW [] synonym: "GSD IXA2" NARROW [] synonym: "GSD type 9A" EXACT [] synonym: "GSD type IXa" EXACT [] synonym: "GSD VIII (formerly)" RELATED [] synonym: "liver glycogenosis, X-linked, type I" EXACT [] synonym: "liver glycogenosis, X-linked, type II" EXACT [] synonym: "XLG1" EXACT [] synonym: "XLG2" EXACT [] xref: MIM:306000 is_a: DOID:0050594 ! glycogen storage disease IX is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111043 name: glycogen storage disease IXC def: "A glycogen storage disease IX characterized by autosomal recessive inheritance of hepatomegaly, hypotonia, growth retardation, and liver dysfunction with onset in childhood and improvement of symptoms with age that has_material_basis_in homozygous and compound heterozygous mutation in the PHKG2 gene on chromosome 16p11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6962066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9384616 "DO"] synonym: "glycogenosis type 9C" EXACT [] synonym: "glycogenosis type IXc" EXACT [] synonym: "glycogen storage disease type 9C" EXACT [] synonym: "glycogen storage disease type IXc" EXACT [] synonym: "GSD9C" EXACT [] synonym: "GSD IXC" EXACT [] synonym: "GSD type 9C" EXACT [] synonym: "GSD type IXc" EXACT [] xref: MESH:C567809 xref: MIM:613027 xref: MONDO:0013091 is_a: DOID:0050594 ! glycogen storage disease IX is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111044 name: gray platelet syndrome alt_id: MIM:139090 def: "A blood platelet disease characterized by selective deficiency in the number and contents of platelet alpha-granules, macrothrombocytopenia, enlarged platelets, myelofibrosis, splenomegaly, and increased bleeding time that has_material_basis_in homozygous or compound heterozygous mutation in the NBEAL2 gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17768118 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21765411 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21765412 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21765413 "DO"] synonym: "BDPLT4" EXACT [] synonym: "GPS" EXACT [] synonym: "gray platelet syndromes" EXACT [] synonym: "Grey Platelet Syndrome" EXACT [] synonym: "Grey Platelet Syndromes" EXACT [] synonym: "NBEAL2-RELATED CONDITION" EXACT [] synonym: "platelet alpha-granule deficiencies" EXACT [] synonym: "platelet alpha-granule deficiency" EXACT [] synonym: "platelet-type bleeding disorder 4" EXACT [] xref: GARD:2562 xref: MESH:D055652 xref: ORDO:721 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:225 ! syndrome is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111045 name: platelet-type bleeding disorder 9 alt_id: MIM:614200 def: "A blood platelet disease characterized by autosomal dominant inheritance of mild thrombocytopenia, mild alpha-granue deficiency, defective platelet adhesion that has_material_basis_in mutation in the ITGA2 gene on chromosome 5q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2933589 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2943331 "DO"] synonym: "BDPLT9" EXACT [] synonym: "COLLAGEN PLATELET RECEPTOR DEFICIENCY" EXACT [] synonym: "Glycoprotein IA Deficiency" EXACT [] synonym: "GP IA Deficiency" EXACT [] xref: ICD10CM:D69.8 xref: MESH:C566000 xref: ORDO:98886 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0111046 name: platelet-type bleeding disorder 10 alt_id: MIM:608404 def: "A blood platelet disease characterized by autosomal recessive inheritance of variable bleeding tendency, thrombocytopenia, giant platelets, and prolonged bleeding times that has_material_basis_in homozygous or compound heterozygous mutation in the CD36 antigen gene on chromosome 7q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11499670 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7506948 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7686693 "DO"] synonym: "BDPLT10" EXACT [] synonym: "CD36 Deficiency" EXACT [] synonym: "platelet glycoprotein IV deficiency" EXACT [] xref: MESH:C564245 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111047 name: platelet-type bleeding disorder 14 alt_id: MIM:614158 def: "A blood platelet disease characterized by autosomal dominant inheritance of defective platelet aggregation, epistaxis, ecchymoses, and prolonged bleeding times that has_material_basis_in mutation in the TBXAS1 gene on chromosome 7q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6268139 "DO"] synonym: "BDPLT14" EXACT [] synonym: "thromboxane synthase deficiency" EXACT [] xref: MESH:C562866 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111048 name: platelet-type bleeding disorder 19 def: "A blood platelet disease characterized by autosomal recessive inheritance of epistaxis, spontaneous hematomas, severe thrombocytopenia, menorrhagia, ovarian cyst ruptures, and abnormal megakaryocytic clusters that has_material_basis_in homozygous mutation in the PRKACG gene on chromosome 9q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25061177 "DO"] synonym: "BDPLT19" EXACT [] synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [] xref: ICD10CM:D69.4 xref: MIM:616176 xref: ORDO:438207 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0111049 name: platelet-type bleeding disorder 17 alt_id: MIM:187900 def: "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, gray platelets, thrombocytopenia, thrombasthenia, abnormal megakaryocytes, decreased or absent alpha-granules in platelets, and myelofibrosis that has_material_basis_in heterozygous mutation in the GFI1B gene on chromosome 9q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24325358 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5681484 "DO"] synonym: "BDPLT17" EXACT [] synonym: "hereditary thrombasthenia-thrombocytopenia" EXACT [] xref: MESH:C566060 xref: NCI:C142084 xref: NCI:C84741 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2219 ! Glanzmann's thrombasthenia is_a: DOID:9002557 ! Inherited Blood Coagulation Disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0111050 name: Quebec platelet disorder alt_id: MIM:601709 def: "A blood platelet disease characterized by autosomal dominant inheritance of delayed onset bleeding after challenge, moderate to severe bleeding tendencies, frequent ecchymoses, mucocutaneous bleeding, muscle and joint bleeds and platelet alpha-granule degradation that has_material_basis_in heterozygous tandem duplication of the PLAU gene on chromosome 10q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18988861 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20007542 "DO"] synonym: "BDPLT5" EXACT [] synonym: "Bleeding Disorder, Platelet-Type, 5" EXACT [] synonym: "Factor V Quebec" EXACT [] synonym: "QPD" EXACT [] xref: GARD:8345 xref: MESH:C536260 xref: ORDO:220436 is_a: DOID:2216 ! factor V deficiency is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:0111051 name: platelet-type bleeding disorder 18 alt_id: RDO:9001378 def: "A blood platelet disease characterized by autosomal recessive inheritance of mucocutaneous bleeding, prolonged and severe epistaxis, hematomas and bleeding after tooth extraction that has_material_basis_in homozygous mutation in the RASGRP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24958846 "DO"] synonym: "BDPLT18" EXACT [] synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency" EXACT [] synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT [] synonym: "RASGRP2-RELATED CONDITION" EXACT [] xref: MIM:615888 xref: ORDO:420566 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0111052 name: Scott syndrome alt_id: MIM:262890 alt_id: OMIA:001353 def: "A blood coagulation disease characterized by autosomal recessive inheritance of hemorrhagic episodes due to impaired platelet coagulant activity that has_material_basis_in homozygous mutation in the TMEM16F gene on chromosome 12q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12669124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21107324 "DO"] synonym: "BDPLT7" EXACT [] synonym: "bleeding abnormality due to deficiency of platelet biding of factor X" EXACT [] synonym: "familial prothrombin consumption inhibitor" EXACT [] synonym: "familial prothrombin conversion defect" EXACT [] synonym: "platelet-type bleeding disorder 7" EXACT [] synonym: "prothrombin consumption deficiency" EXACT [] synonym: "SCTS" EXACT [] xref: EFO:0000204 xref: GARD:4777 xref: MESH:C563120 xref: MONDO:0009885 xref: ORDO:806 is_a: DOID:225 ! syndrome is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111053 name: platelet-type bleeding disorder 15 def: "A blood platelet disease characterized by autosomal dominant inheritance of macrothrombocytopenia with little or no bleeding tendency and normal in vitro platelet function that has_material_basis_in heterozygous mutation in the ACTN1 gene on chromosome 14q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23434115 "DO"] synonym: "ACTN1-RELATED CONDITION" EXACT [] synonym: "BDPLT15" EXACT [] synonym: "BLEEDING DISORDER, PLATELET-TYPE, 15" EXACT [] synonym: "Bleeding disorder platelet type macrothrombocytopenia" EXACT [] synonym: "MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, ACTN1-RELATED" EXACT [] xref: MIM:615193 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0111054 name: von Willebrand's disease 3 alt_id: MIM:277480 alt_id: OMIA:001058 def: "A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19630771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3258663 "DO"] synonym: "Type 3 Von Willebrand's Disease" EXACT [] synonym: "Type 3 VWD" EXACT [] synonym: "Von Willebrand disease III" EXACT [] synonym: "von Willebrand disease, severe form" EXACT [] synonym: "von Willebrand disease type 3" EXACT [] synonym: "von Willebrand disease type III" EXACT [] synonym: "VWD3" EXACT [] xref: ICD10CM:D68.03 xref: MESH:D056729 xref: NCI:C85213 xref: ORDO:166096 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:0111055 name: platelet-type bleeding disorder 20 def: "A blood platelet disease characterized by autosomal dominant inheritance of increased bleeding tendency, thrombocytopenia, decreased platelet dense granules and ATP secretion, and impaired megakaryocyte maturation that has_material_basis_in heterozygous mutation in the SLFN14 gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26280575 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26769223 "DO"] synonym: "autosomal dominant thrombocytopenia with platelet secretion defect" EXACT [] synonym: "BDPLT20" EXACT [] synonym: "SLFN14-RELATED CONDITION" EXACT [] xref: MIM:616913 xref: ORDO:466806 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0111056 name: platelet-type bleeding disorder 3 alt_id: MIM:177820 def: "A blood platelet disease characterized by enhanced binding of von Willebrand factor by the platelet glycoprotein Ib receptor complex that has_material_basis_in mutation in the GP1BA gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2052556 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8486780 "DO"] synonym: "BDPLT3" EXACT [] synonym: "pseudo-Von Willebrand disease" EXACT [] synonym: "PT-VWD" EXACT [] synonym: "Von Willebrand disease, platelet type" EXACT [] synonym: "VWDP" EXACT [] xref: MESH:C536458 xref: ORDO:52530 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12531 ! von Willebrand's disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111057 name: platelet-type bleeding disorder 11 def: "A blood platelet disease characterized by autosomal recessive inheritance of mild to moderate bleeding and defective platelet activation and aggregation in response to collagen that has_material_basis_in compound heterozygous mutation in the GP6 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19549989 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19552682 "DO"] synonym: "BDPLT11" EXACT [] synonym: "GLYCOPROTEIN VI DEFICIENCY" EXACT [] synonym: "GP VI DEFICIENCY" EXACT [] xref: MIM:614201 xref: ORDO:98885 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:0111058 name: platelet-type bleeding disorder 12 alt_id: MIM:605735 def: "A blood platelet disease characterized by autosomal dominant inheritance of mildly increased bleeding, platelet aggregation defect, and impaired conversion of arachidonic acid to thromboxane A2 in platelets due to deficiency in PTGS1 activity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8562397 "DO"] synonym: "BDPLT12" EXACT [] synonym: "PGHS1 deficiency" EXACT [] synonym: "platelet COX1 deficiency" EXACT [] synonym: "platelet cyclooxygenase 1 deficiency" EXACT [] synonym: "prostaglandin-endoperoxide synthase 1 deficiency, platelet" EXACT [] xref: MESH:C567786 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111059 name: Bernard-Soulier syndrome type A2 def: "A Bernard-Soulier syndrome characterized by autosomal dominant inheritance of mild to moderate bleeding tendency, thrombocytopenia, and an increased mean platelet size that has_material_basis_in heterozygous mutations in the GP1BA gene on chromosome 17p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11222377 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1730088 "DO"] synonym: "Bernard-Soulier Syndrome, Type A2, Autosomal Dominant" EXACT [] synonym: "BSSA2" EXACT [] xref: MIM:153670 is_a: DOID:2217 ! Bernard-Soulier syndrome [Term] id: DOID:0111060 name: Ambras type hypertrichosis universalis congenita alt_id: MIM:145701 alt_id: RDO:0002235 def: "A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has_material_basis_in chromosomal abnormalities in the region 8q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18328202 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8275569 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9712536 "DO"] synonym: "Ambras syndrome" EXACT [] synonym: "congenital generalized hypertrichosis" BROAD [] synonym: "HTC1" EXACT [] xref: GARD:8206 xref: ICD10CM:Q84.2 xref: MESH:C536605 xref: ORDO:1023 is_a: DOID:420 ! hypertrichosis [Term] id: DOID:0111061 name: familial hypobetalipoproteinemia 2 alt_id: MIM:605019 alt_id: RDO:0014290 def: "A hypobetalipoproteinemia that has_material_basis_in homozygous or compound heterozygous mutation in the ANGPTL3 gene on chromosome 1p31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20942659 "DO"] synonym: "Fhbl2" EXACT [] synonym: "Hypobetalipoproteinemia, familial, 2" EXACT [] synonym: "HYPOLIPIDEMIA, FAMILIAL, COMBINED" EXACT [] xref: MESH:C565732 is_a: DOID:1390 ! hypobetalipoproteinemia [Term] id: DOID:0111062 name: familial hypobetalipoproteinemia 1 alt_id: MIM:615558 alt_id: RDO:0014668 def: "A hypobetalipoproteinemia that has_material_basis_in mutation in the APOB gene on chromosome 2p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3399894 "DO"] synonym: "Acanthocytosis with Hypobetalipoproteinemia" EXACT [] synonym: "APOB-RELATED CONDITION" BROAD [] synonym: "APOB-RELATED DISORDER" BROAD [] synonym: "FHBL1" EXACT [] synonym: "Hypobetalipoproteinemia, familial, associated with apob32" NARROW [] synonym: "Hypobetalipoproteinemia, Normotriglyceridemic" EXACT [] xref: MESH:C566267 is_a: DOID:1390 ! hypobetalipoproteinemia is_a: DOID:9002123 ! Familial Hypobetalipoproteinemia, Apolipoprotein B [Term] id: DOID:0111063 name: hyperphosphatemic familial tumoral calcinosis def: "A calcinosis characterized by autosomal recessive inheritance of elevated blood calcium levels and calcium phosphate crystals in cutaneous and subcutaneous tissues that has_material_basis_in mutation in the GALNT3 gene, the FGF23 gene, or the KL gene. (DO)" [https://ghr.nlm.nih.gov/condition/hyperphosphatemic-familial-tumoral-calcinosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/15133511 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15590700 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16151858 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17710231 "DO"] synonym: "cortical hyperostosis with hyperphosphatemia" EXACT [] synonym: "familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome" EXACT [] synonym: "familial Teutschlaender disease" EXACT [] synonym: "familial tumoral calcinosis" BROAD [] synonym: "HFTC" EXACT [] synonym: "HHS" EXACT [] synonym: "hypercalcemic tumoral calcinosis" EXACT [] synonym: "hyperostosis-hyperphosphatemia syndrome" EXACT [] synonym: "hyperostosis with hyperphosphatemia" EXACT [] synonym: "hyperphosphatemia-hyperostosis" EXACT [] synonym: "Hyperphosphatemia Tumoral Calcinosis" EXACT [] synonym: "hyperphosphatemic tumoral calcinosis" EXACT [] synonym: "Lipocalcinogranulomatosis" EXACT [] synonym: "Morbus Teutschlaender" EXACT [] synonym: "PHPTC" EXACT [] synonym: "primary hyperphosphatemic tumoral calcinosis" EXACT [] synonym: "tumoral calcinosis with hyperphosphatemia" EXACT [] xref: EFO:0009385 xref: GARD:10879 xref: ICD10CM:M11.2 xref: MESH:C538381 xref: MESH:C566870 xref: NCI:C131851 xref: ORDO:306661 is_a: DOID:0050459 ! hyperphosphatemia is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:182 ! calcinosis is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111064 name: autosomal recessive distal hereditary motor neuronopathy 1 def: "A spinal muscular atrophy characterized by autosomal recessive inheritance of severe respiratory distress resulting from diaphragmatic paralysis that predominantly involves the upper limbs and distal muscles that has_material_basis_in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11528396 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2801766 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy 1" EXACT [] synonym: "autosomal recessive spinal muscular atrophy with respiratory distress" EXACT [] synonym: "DHMN6" EXACT [] synonym: "diaphragmatic spinal muscular atrophy" EXACT [] synonym: "distal hereditary motor neuronopathy, autosomal recessive 1" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VI" EXACT [] synonym: "distal hereditary motor neuronopathy type VI" EXACT [] synonym: "distal hereditary motor neuropathy, autosomal recessive 1" EXACT [] synonym: "distal hereditary motor neuropathy type 6" EXACT [] synonym: "distal-HMN type 6" EXACT [] synonym: "distal spinal muscular atrophy 1" EXACT [] synonym: "distal spinal muscular atrophy type 1" EXACT [] synonym: "DSMA1" EXACT [] synonym: "HMN6" EXACT [] synonym: "HMNR1" EXACT [] synonym: "HMN VI" EXACT [] synonym: "Hmnvi" EXACT [] synonym: "severe infantile axonal neuronopathy with respiratory failure" EXACT [] synonym: "severe infantile axonal neuropathy with respiratory failure" EXACT [] synonym: "severe infantile axonal neuropathy with respiratory failure type 1" EXACT [] synonym: "SIANRF" EXACT [] synonym: "SMARD1" EXACT [] synonym: "spinal muscular atrophy with respiratory distress" EXACT [] synonym: "Spinal muscular atrophy with respiratory distress type 1" NARROW [] synonym: "Spinal muscular atrophy with respiratory distress type 2" NARROW [] xref: EFO:0003107 xref: MESH:C536880 xref: MIM:604320 xref: MONDO:0018450 xref: ORDO:98920 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy is_a: DOID:12716 ! newborn respiratory distress syndrome [Term] id: DOID:0111065 name: autosomal recessive distal hereditary motor neuronopathy 2 alt_id: MIM:605726 def: "A spinal muscular atrophy characterized by autosomal recessive inheritance of distal muscle weakness and muscle wasting primarily affecting the upper and lower limbswith onset typically in the first decade of life that has_material_basis_in homozygous mutation in the SIGMAR1 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26078401 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy 2" EXACT [] synonym: "dHMNJ" EXACT [] synonym: "distal hereditary motor neuronopathy, Jerash type" EXACT [] synonym: "distal hereditary motor neuropathy, autosomal recessive 2" EXACT [] synonym: "distal hereditary motor neuropathy, Jerash type" EXACT [] synonym: "distal motor neuropathy, Jerash type" EXACT [] synonym: "distal spinal muscular atrophy 2" EXACT [] synonym: "DSMA2" EXACT [] synonym: "hereditary motor neuropathy, Jerash type" EXACT [] synonym: "HMNJ" EXACT [] synonym: "HMNR2" EXACT [] synonym: "spinal muscular atrophy, Jerash type" EXACT [] xref: GARD:10133 xref: MESH:C535715 xref: ORDO:139552 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111066 name: congenital bile acid synthesis defect 5 def: "A congenital bile acid synthesis defect characterized by hepatomegaly, liver fibrosis and failure, splenomegaly, and elevated plasma levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ABCD3 gene on chromosome 1p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25168382 "DO"] synonym: "ABCD3-RELATED CONDITION" EXACT [] synonym: "CBAS5" EXACT [] xref: MIM:616278 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111067 name: congenital bile acid synthesis defect 6 def: "A congenital bile acid synthesis defect characterized by increased liver enzymes, decreased cholesterol, and increased serum and urine levels of bile acid intermediates that has_material_basis_in homozygous mutation in the ACOX2 gene on chromosome 3p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27647924 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27884763 "DO"] synonym: "ACOX2-RELATED CONDITION" EXACT [] synonym: "CBAS6" EXACT [] xref: MIM:617308 xref: MONDO:0015015 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111068 name: congenital bile acid synthesis defect 4 alt_id: MIM:214950 def: "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, decreased serum cholesterol, and increased levels of THCA in bile, serum and urine that has_material_basis_in homozygous mutation in the AMACR gene on chromosome 5p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12512044 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5064535 "DO"] synonym: "Cbas4" EXACT [] synonym: "intrahepatic cholestasis with defective conversion of trihydroxycoprostanic acid to cholic acid" EXACT [] synonym: "Trihydroxycoprostanic acid in bile" EXACT [] xref: GARD:10046 xref: MESH:C535444 xref: ORDO:79095 is_a: DOID:0050674 ! congenital bile acid synthesis defect is_a: DOID:1852 ! intrahepatic cholestasis is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:0111069 name: congenital bile acid synthesis defect 2 alt_id: MIM:235555 def: "A congenital bile acid synthesis defect characterized by rapid progession of severe cholestatic liver disease, decreased levels of chenodeoxycholic acid and cholic acid in the serum and urine, and malabsorption of fat and fat-soluble vitamins that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1D1 gene on chromosome 7q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12970144 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3198770 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79303 "DO"] synonym: "Bile acid synthesis defect, congenital, 2" EXACT [] synonym: "CBAS2" EXACT [] synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT [] synonym: "congenital bile acid synthesis defect type 2 (CBAS2)" EXACT [] xref: GARD:10045 xref: MESH:C535443 xref: ORDO:79303 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111070 name: congenital bile acid synthesis defect 3 alt_id: MIM:613812 def: "A congenital bile acid synthesis defect characterized by intrahepatic cholestasis, malabsorption of fat and fat-soluble vitamins, and increased serum bilirubin that has_material_basis_in homozygous mutation in the CYP7B1 gene on chromosome 8q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9802883 "DO"] synonym: "CBAS3" EXACT [] synonym: "Congenital Bile Acid Synthesis Defect Type 3 (CBAS3)" EXACT [] synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [] xref: MESH:C566340 xref: ORDO:79302 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111071 name: congenital bile acid synthesis defect 1 alt_id: MIM:607765 def: "A congenital bile acid synthesis defect characterized by progressive cholestatic liver disease, giant cell hepatitis, malabsorption of fat and fat-soluble vitamins, increased serum bilirubin and decreased serum cholesterol that has_material_basis_in homozygous or compound heterozygous mutation in the HSD3B7 gene on chromosome 16p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11067870 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3470305 "DO"] synonym: "3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency" EXACT [] synonym: "CBAS1" EXACT [] synonym: "Congenital Bile Acid Synthesis Defect Type 1 (CBAS1)" EXACT [] synonym: "deficiency of 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase" EXACT [] synonym: "HSD3B7-RELATED CONDITION" EXACT [] xref: GARD:9813 xref: MESH:C535442 xref: ORDO:79301 is_a: DOID:0050674 ! congenital bile acid synthesis defect [Term] id: DOID:0111072 name: myostatin-related muscle hypertrophy alt_id: MIM:614160 def: "A muscle tissue disease characterized by increased muscle bulk and strength that has_material_basis_in homozygous mutation in the MSTN gene on chromosome 2q32.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15215484 "DO"] synonym: "MSLHP" EXACT [] synonym: "muscle hypertrophy syndrome" EXACT [] xref: GARD:10238 xref: MESH:C536106 xref: ORDO:275534 is_a: DOID:66 ! muscle tissue disease is_a: DOID:9000040 ! Hypertrophy [Term] id: DOID:0111073 name: progressive familial heart block def: "A heart conduction disease characterized by autosomal dominant inheritance of a cardiac conduction defect that may progress to complete atrioventricular (AV) block and maybe asymptomatic of manifest as shortness of breath, dizziness, syncope, abdominal pain, heart failure or sudden death. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/897853 "DO"] synonym: "familial Lenegre disease" EXACT [] synonym: "familial Lev disease" EXACT [] synonym: "familial Lev-Lenegre disease" EXACT [] synonym: "familial PCCD" EXACT [] synonym: "hereditary bundle branch defect" EXACT [] synonym: "hereditary bundle branch system defect" EXACT [] synonym: "Lenegre Lev disease" EXACT [] synonym: "PFHB" EXACT [] synonym: "progressive cardiac conduction defect" EXACT [] xref: MESH:C566873 xref: MIM:PS113900 xref: ORDO:871 is_a: DOID:10273 ! heart conduction disease is_a: DOID:990 ! congenital heart block [Term] id: DOID:0111074 name: progressive familial heart block type IA def: "A progressive familial heart block characterized by autosomal dominant inheritance of cardiac bundle branch disorder that may progress to complete heart block that has_material_basis_in mutation in the SCN5A gene on chromosome 3p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10471492 "DO", https://www.ncbi.nlm.nih.gov/pubmed/897853 "DO"] synonym: "CARDIAC CONDUCTION DEFECT, NONPROGRESSIVE" NARROW [] synonym: "HBBD HEART BLOCK, NONPROGRESSIVE" NARROW [] synonym: "hereditary bundle branch system defect" NARROW [] synonym: "PCCD" EXACT [] synonym: "PFHB1A" EXACT [] synonym: "PFHBIA" EXACT [] xref: MIM:113900 xref: NCI:C126651 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9003912 ! Bundle-Branch Block is_a: DOID:9009094 ! Progressive Familial Heart Block Type I [Term] id: DOID:0111075 name: progressive familial heart block type II alt_id: MIM:140400 alt_id: RDO:0013242 def: "A progressive familial heart block characterized by autosomal dominant inheritance of heart block that tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes that has_material_basis_in variation in the chromosome region 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16086176 "DO", https://www.ncbi.nlm.nih.gov/pubmed/897853 "DO"] synonym: "PFHB2" EXACT [] synonym: "PFHBII" EXACT [] xref: MESH:C564202 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111073 ! progressive familial heart block [Term] id: DOID:0111076 name: progressive familial heart block type IB alt_id: MIM:604559 def: "A progressive familial heart block characterized by that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19726882 "DO", https://www.ncbi.nlm.nih.gov/pubmed/897853 "DO"] synonym: "PFHB1B" EXACT [] synonym: "PFHBIB" EXACT [] synonym: "progressive familial heart block type 1B" EXACT [] synonym: "TRPM4-RELATED CONDITION" BROAD [] synonym: "TRPM4-RELATED DISORDER" BROAD [] xref: MESH:C567037 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9009094 ! Progressive Familial Heart Block Type I [Term] id: DOID:0111077 name: pyruvate kinase deficiency of red cells def: "A congenital nonspherocytic hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PKLR gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1896471 "DO", https://www.ncbi.nlm.nih.gov/pubmed/728372 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7706479 "DO"] synonym: "CNSHA2" EXACT [] synonym: "congenital nonspherocytic hemolytic anemia-2" EXACT [] synonym: "hemolytic anemia due to red cell pyruvate kinase deficiency" EXACT [] synonym: "PK Deficiency" EXACT [] synonym: "PKLR-RELATED CONDITION" BROAD [] synonym: "pyruvate kinase deficiency" EXACT [] synonym: "pyruvate kinase deficiency of erythrocyte" EXACT [] xref: GARD:7514 xref: MESH:C564858 xref: MIM:266200 xref: MONDO:0009950 xref: NCI:C99037 xref: OMIA:000844 xref: ORDO:766 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors [Term] id: DOID:0111078 name: tibial muscular dystrophy def: "A distal myopathy that is characterized by autosomal dominant inheritance of late-onset muscular dystrophy beginning in the anterior compartment of the legs that has_material_basis_in heterozygous mutation in the gene encoding the giant skeletal muscle protein titin (TTN) on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12145747 "DO", https://www.ncbi.nlm.nih.gov/pubmed/196233 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8503797 "DO"] synonym: "distal titinopathy" EXACT [] synonym: "Finnish Markesbery muscular dystrophy" EXACT [] synonym: "Finnish tibial muscular dystrophy" EXACT [] synonym: "tardive tibial muscular dystrophy" EXACT [] synonym: "tibial muscular dystrophies" EXACT [] synonym: "TMD" EXACT [] synonym: "Udd distal myopathy" EXACT [] synonym: "Udd Markesbery muscular dystrophy" EXACT [] synonym: "Udd myopathy" EXACT [] synonym: "Udd type distal myopathy" EXACT [] xref: MIM:600334 xref: ORDO:609 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080001 ! bone disease is_a: DOID:11720 ! distal myopathy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0111079 name: birdshot chorioretinopathy alt_id: MIM:605808 def: "A posterior uveitis characterized by multiple small, hypopigmented, cream-colored choroidal lesions scattered symmetrically in the fundus primarily around the optic disc that presents in patients as blurred vision, floaters, photopsia, scotoma and nyctalopia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11226280 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16263368 "DO", https://www.ncbi.nlm.nih.gov/pubmed/18214792 "DO"] synonym: "birdshot chorioretinitis" EXACT [] synonym: "birdshot retinochoroiditis" EXACT [] synonym: "birdshot retinochoroidopathy" EXACT [] synonym: "BSCR" EXACT [] synonym: "vitiliginous choroiditis" EXACT [] xref: GARD:5926 xref: MESH:D000080365 xref: MONDO:0011599 xref: ORDO:179 is_a: DOID:8886 ! chorioretinitis is_a: DOID:9003271 ! White Dot Syndromes [Term] id: DOID:0111080 name: Fanconi anemia complementation group V def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the MAD2L2 gene on chromosome 1p36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27500492 "DO"] synonym: "Fanconi anemia of complementation group V" EXACT [] synonym: "FANCV" EXACT [] xref: MIM:617243 xref: MONDO:0014985 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111081 name: Fanconi anemia complementation group T def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the UBE2T gene on chromosome 1q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26046368 "DO"] synonym: "Fanconi anemia of complementation group T" EXACT [] synonym: "FANCT" EXACT [] xref: MIM:616435 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111082 name: Fanconi anemia complementation group L def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the PHF9 gene on chromosome 2p16. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12973351 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19405097 "DO"] synonym: "FANCL" EXACT [] xref: MIM:614083 xref: NCI:C164677 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111083 name: Fanconi anemia complementation group D2 def: "A Fanconi anemia that has_material_basis_in compound heterozygous or homozygous mutation in the FANCD2 gene on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11239453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17436244 "DO"] synonym: "FA4" EXACT [] synonym: "FACD" EXACT [] synonym: "FAD2" EXACT [] synonym: "FANCD" EXACT [] synonym: "FANCD2" EXACT [] synonym: "Fanconi anemia, complementation group D" EXACT [] synonym: "Fanconi pancytopenia, type 4" EXACT [] xref: MIM:227646 xref: NCI:C125706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111084 name: Fanconi anemia complementation group E def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the FANCE gene on chromosome 6p22-p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11001585 "DO"] synonym: "FACE" EXACT [] synonym: "FANCE" EXACT [] synonym: "FANCE-RELATED CONDITION" EXACT [] xref: MIM:600901 xref: NCI:C125709 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111085 name: Fanconi anemia complementation group U def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the XRCC2 gene on chromosome 7q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22232082 "DO"] synonym: "Fanconi anemia of complementation group U" EXACT [] synonym: "FANCU" EXACT [] xref: MIM:617247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111086 name: Fanconi anemia complementation group G def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC9 gene on chromosome 9p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9806548 "DO"] synonym: "FANCG" EXACT [] xref: EFO:0009046 xref: MIM:614082 xref: NCI:C125708 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111087 name: Fanconi anemia complementation group C def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCC gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1574115 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9272737 "DO"] synonym: "FA3" EXACT [] synonym: "FAC" EXACT [] synonym: "FACC" EXACT [] synonym: "FANCC" EXACT [] synonym: "FANCONI ANEMIA, GROUP C" EXACT [] synonym: "FANCONI PANCYTOPENIA, TYPE 3" EXACT [] xref: MIM:227645 xref: NCI:C125704 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111088 name: Fanconi anemia complementation group F def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCF gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10615118 "DO"] synonym: "FANCF" EXACT [] xref: EFO:0009045 xref: MIM:603467 xref: NCI:C125707 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111089 name: Fanconi anemia complementation group D1 alt_id: MIM:605724 def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRCA2 gene on chromosome 13q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12065746 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14670928 "DO"] synonym: "FAD1" EXACT [] synonym: "FANCD1" EXACT [] xref: MESH:C563980 xref: NCI:C125705 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111090 name: Fanconi anemia complementation group R def: "A Fanconi anemia that has_material_basis_in heterozygous mutation in the RAD51 gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26681308 "DO"] synonym: "Fanconi anemia of complementation group R" EXACT [] synonym: "FANCR" EXACT [] xref: MIM:617244 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111091 name: Fanconi anemia complementation group I alt_id: MIM:609053 def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCI gene on chromosome 15q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17452773 "DO"] synonym: "FANCI" EXACT [] xref: MESH:C563802 xref: NCI:C129026 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111092 name: Fanconi anemia complementation group P def: "A Fanconi anemia characterized by increased chromosomal instability, progressive bone marrow failure and in some cases skeletal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the SLX4 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21240275 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21240277 "DO"] synonym: "FANCP" EXACT [] xref: MIM:613951 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111093 name: Fanconi anemia complementation group Q def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the ERCC4 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23623386 "DO"] synonym: "FANCQ" EXACT [] xref: MIM:615272 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111094 name: Fanconi anemia complementation group N alt_id: MIM:610832 def: "A Fanconi anemia that has_material_basis_in compound heterozygous mutation in the PALB2 gene on chromosome 16p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17200671 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17200672 "DO"] synonym: "FANCN" EXACT [] xref: MESH:C563657 xref: NCI:C176894 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111095 name: Fanconi anemia complementation group A alt_id: RDO:9002144 def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the FANCA gene on chromosome 16q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10094191 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9371798 "DO"] synonym: "FANCA" EXACT [] synonym: "FANCA-RELATED CONDITION" EXACT [] synonym: "FANCONI ANEMIA, GROUP A" EXACT [] xref: EFO:0009044 xref: MIM:227650 xref: NCI:C125702 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:0111096 name: Fanconi anemia complementation group O def: "A Fanconi anemia that has_material_basis_in homozygous mutation in the RAD51C gene on chromosome 17q21-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20400963 "DO"] synonym: "FANCO" EXACT [] synonym: "RAD51C-RELATED CONDITION" BROAD [] xref: MIM:613390 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111097 name: Fanconi anemia complementation group J alt_id: MIM:609054 def: "A Fanconi anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BRIP1 gene on chromosome 17q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16116424 "DO"] synonym: "BRIP1-related disorder" NARROW [] synonym: "FANCJ" EXACT [] xref: MESH:C563801 xref: NCI:C129027 is_a: DOID:0050177 ! monogenic disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111098 name: Fanconi anemia complementation group B alt_id: MIM:300514 def: "A Fanconi anemia that has_material_basis_in mutation in the FANCB gene on chromosome Xp22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15502827 "DO"] synonym: "FA2" EXACT [] synonym: "FACB" EXACT [] synonym: "FANCB" EXACT [] synonym: "Fanconi pancytopenia type 2" EXACT [] xref: MESH:C564497 xref: NCI:C125703 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:0111099 name: maturity-onset diabetes of the young type 1 alt_id: MIM:125850 def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF4A gene on chromosome 20. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9294105 "DO"] synonym: "Diabetes Mellitus Type 2" EXACT [] synonym: "Mild Juvenile Diabetes Mellitus" EXACT [] synonym: "MODY1" EXACT [] synonym: "MODY, Type 1" EXACT [] xref: MESH:C565101 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111100 name: maturity-onset diabetes of the young type 2 alt_id: MIM:125851 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the GCK gene on chromosome 7p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1570017 "DO"] synonym: "maturity-onset diabetes of the young, type II" EXACT [] synonym: "MODY2" EXACT [] synonym: "MODY, Glucokinase-Related" EXACT [] synonym: "MODY, type 2" EXACT [] synonym: "MODY, type II" EXACT [] xref: MESH:C564219 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111101 name: maturity-onset diabetes of the young type 5 alt_id: MIM:137920 def: "A maturity-onset diabetes of the young characterized by abnormal renal development resuting in non-diabetic kidney disease and diabetes that has_material_basis_in mutation in the HNF1B gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11085914 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15930087 "DO"] synonym: "atypical familial juvenile hyperuricemic nephropathy" EXACT [] synonym: "atypical FJHN" EXACT [] synonym: "CAKUT WITH DIABETES" EXACT [] synonym: "CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT WITH DIABETES" EXACT [] synonym: "familial hypoplastic glomerulocystic kidney" EXACT [] synonym: "glomerulocystic kidney disease, hypoplastic type" EXACT [] synonym: "MODY5" EXACT [] synonym: "RCAD" EXACT [] synonym: "renal cysts and diabetes syndrome" EXACT [] xref: MESH:C535520 xref: NCI:C123018 is_a: DOID:0050524 ! maturity-onset diabetes of the young is_a: DOID:2975 ! cystic kidney disease is_a: DOID:331 ! central nervous system disease [Term] id: DOID:0111102 name: maturity-onset diabetes of the young type 3 alt_id: MIM:600496 def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the HNF1A gene on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11575290 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7795649 "DO"] synonym: "MODY3" EXACT [] synonym: "MODY, Type 3" EXACT [] xref: MESH:C563933 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111103 name: maturity-onset diabetes of the young type 4 alt_id: MIM:606392 def: "A maturity-onset diabetes of the young that has_material_basis_in mutation in the PDX1 gene on chromosome 13q12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326926 "DO"] synonym: "maturity-onset diabetes of the young, type IV" EXACT [] synonym: "MODY4" EXACT [] synonym: "MODY, type 4" EXACT [] synonym: "PDX1-RELATED DISORDER" BROAD [] xref: MESH:C563451 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111104 name: maturity-onset diabetes of the young type 6 alt_id: MIM:606394 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the NEUROD1 gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10545951 "DO"] synonym: "maturity-onset diabetes of the young, type VI" EXACT [] synonym: "MODY6" EXACT [] synonym: "MODY, type 6" EXACT [] synonym: "NEUROD1-RELATED CONDITION" BROAD [] xref: MESH:C565231 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111105 name: maturity-onset diabetes of the young type 8 alt_id: MIM:609812 def: "A maturity-onset diabetes of the young that has_material_basis_in frameshift deletions in the variable number of tandem repeats of the CEL gene om chromosome 9q34.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16369531 "DO"] synonym: "diabetes and pancreatic exocrine" EXACT [] synonym: "diabetes and pancreatic exocrine dysfunction" EXACT [] synonym: "Diabetes-Pancreatic Exocrine Dysfunction Syndrome" EXACT [] synonym: "DPED" EXACT [] synonym: "maturity-onset diabetes of the young type 8 with exocrine dysfunction" EXACT [] synonym: "maturity-onset diabetes of the young, type VIII" EXACT [] synonym: "MODY8" EXACT [] synonym: "MODY type 8" EXACT [] xref: MESH:C565225 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111106 name: maturity-onset diabetes of the young type 7 alt_id: MIM:610508 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KLF11 gene on chromosome 2p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15774581 "DO"] synonym: "KLF11-RELATED CONDITION" EXACT [] synonym: "MODY7" EXACT [] xref: MESH:C566466 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111107 name: maturity-onset diabetes of the young type 9 alt_id: MIM:612225 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the PAX4 gene on chromosome 7q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17426099 "DO"] synonym: "MODY9" EXACT [] xref: MESH:C567393 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111108 name: maturity-onset diabetes of the young type 10 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the INS gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18162506 "DO"] synonym: "MODY10" EXACT [] xref: MIM:613370 xref: RDO:0009825 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111109 name: maturity-onset diabetes of the young type 11 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the BLK gene on chromosome 8p23-p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19667185 "DO"] synonym: "BLK-RELATED CONDITION" EXACT [] synonym: "MODY11" EXACT [] xref: MIM:613375 xref: MONDO:0013242 is_a: DOID:0050524 ! maturity-onset diabetes of the young [Term] id: DOID:0111110 name: maturity-onset diabetes of the young type 13 alt_id: RDO:9000758 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the KCNJ11 gene on chromosome 11p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15784703 "DO"] synonym: "MODY13" EXACT [] synonym: "MODY type 13" EXACT [] xref: MIM:616329 is_a: DOID:0050524 ! maturity-onset diabetes of the young created_by: rgd creation_date: 2015-05-12T00:00:00Z [Term] id: DOID:0111111 name: maturity-onset diabetes of the young type 14 def: "A maturity-onset diabetes of the young that has_material_basis_in heterozygous mutation in the APPL1 gene on chromosome 3p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26073777 "DO"] synonym: "maturity-onset diabetes of the young-14" EXACT [] synonym: "MODY14" EXACT [] xref: MIM:616511 xref: RDO:9001645 is_a: DOID:0050524 ! maturity-onset diabetes of the young created_by: rgd creation_date: 2017-05-04T00:00:00Z [Term] id: DOID:0111112 name: nephronophthisis 1 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9326933 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9361039 "DO"] synonym: "juvenile nephronophthisis" EXACT [] synonym: "juvenile nephronophthisis 1" EXACT [] synonym: "Nephronophthisis, Familial Juvenile" EXACT [] synonym: "NPH1" EXACT [] synonym: "NPHP1" EXACT [] synonym: "type 1 nephronophthisis" EXACT [] xref: MESH:C537699 xref: MIM:256100 xref: MONDO:0009728 xref: NCI:C74998 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111113 name: nephronophthisis 2 alt_id: MIM:602088 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the INVS gene on chromosome 9q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12872123 "DO"] synonym: "infantile nephronophthisis" EXACT [] synonym: "infantile nephronophthisis 2" EXACT [] synonym: "NPH2" EXACT [] synonym: "NPHP2" EXACT [] xref: MESH:C566582 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111114 name: nephronophthisis 3 alt_id: MIM:604387 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the NPHP3 gene on chromosome 3q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12872122 "DO"] synonym: "adolescent nephronophthisis" EXACT [] synonym: "NPH3" EXACT [] synonym: "NPHP3" EXACT [] xref: MESH:C565780 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111115 name: nephronophthisis 4 def: "A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12244321 "DO"] synonym: "juvenile nephronophthisis 4" EXACT [] synonym: "NPHP4" EXACT [] xref: MESH:C564640 xref: MIM:606966 xref: MONDO:0011752 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111116 name: nephronophthisis 7 alt_id: MIM:611498 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the GLIS2 gene on chromosome 16p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17618285 "DO"] synonym: "NPHP7" EXACT [] xref: MESH:C566930 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111117 name: nephronophthisis-like nephropathy 1 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the XPNPEP3 gene on chromosome 22q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20179356 "DO"] synonym: "nephronophthisis-like nephropathy" BROAD [] synonym: "NPHPL1" EXACT [] xref: MIM:613159 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111118 name: nephronophthisis 11 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM67 gene on chromosome 8q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19508969 "DO"] synonym: "NPHP11" EXACT [] xref: MIM:613550 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111119 name: nephronophthisis 12 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21B gene on chromosome 2q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21258341 "DO"] synonym: "JBTS11" NARROW [] synonym: "JOUBERT SYNDROME 11" NARROW [] synonym: "NPHP12" EXACT [] synonym: "TTC21B-RELATED DISORDER" BROAD [] xref: MIM:613820 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111120 name: nephronophthisis 9 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the NEK8 gene on chromosome 17q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18199800 "DO"] synonym: "NPHP9" EXACT [] xref: MIM:613824 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111121 name: nephronophthisis 13 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the WDR19 gene on chromosome 4p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22019273 "DO"] synonym: "NPHP13" EXACT [] xref: MIM:614377 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111122 name: nephronophthisis 14 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the ZNF423 gene on chromosome 16q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22863007 "DO"] synonym: "JBTS19" RELATED [] synonym: "JOUBERT SYNDROME 19" RELATED [] synonym: "NPHP14" EXACT [] synonym: "ZNF423-RELATED CONDITION" BROAD [] xref: MIM:614844 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111123 name: nephronophthisis 15 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP164 gene on chromosome 11q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22863007 "DO"] synonym: "NPHP15" EXACT [] xref: MIM:614845 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111124 name: nephronophthisis 16 def: "A nephronophthisis that has_material_basis_in homozygous mutation in the ANKS6 gene on chromosome 9q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23793029 "DO"] synonym: "NPHP16" EXACT [] xref: MIM:615382 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111125 name: nephronophthisis 18 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the CEP83 gene on chromosome 12q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24882706 "DO"] synonym: "NPHP18" EXACT [] xref: MIM:615862 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111126 name: nephronophthisis 19 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the DCDC2 gene on chromosome 6p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25557784 "DO"] synonym: "NPHP19" EXACT [] xref: MIM:616217 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111127 name: nephronophthisis 20 def: "A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in the MAPKBP1 gene on chromosome 15q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28089251 "DO"] synonym: "NPHP20" EXACT [] xref: MIM:617271 xref: MONDO:0014997 is_a: DOID:12712 ! nephronophthisis [Term] id: DOID:0111128 name: focal segmental glomerulosclerosis 1 alt_id: MIM:603278 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ACTN4 gene on chromosome 19q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1429048 "DO"] synonym: "focal sclerosis with hyalinosis" EXACT [] synonym: "FSGS1" EXACT [] synonym: "segmental glomerulosclerosis" RELATED [] xref: MESH:C538457 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111129 name: focal segmental glomerulosclerosis 2 alt_id: MIM:603965 def: "A focal segmental glomerulosclerosis that has_material_basis_in a mutation of the TRPC6 gene on chromosome 11q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15924139 "DO"] synonym: "FSGS2" EXACT [] synonym: "TRPC6-RELATED CONDITION" EXACT [] xref: MESH:C565831 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111130 name: focal segmental glomerulosclerosis 5 alt_id: MIM:613237 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the INF2 gene on chromosome 14q32.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20023659 "DO"] synonym: "FSGS5" EXACT [] synonym: "INF2-RELATED CONDITION" BROAD [] xref: MESH:C567687 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111131 name: focal segmental glomerulosclerosis 6 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the MYO1E gene on chromosome 15q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21756023 "DO"] synonym: "FSGS6" EXACT [] synonym: "MYO1E-RELATED CONDITION" EXACT [] xref: MIM:614131 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:0111132 name: focal segmental glomerulosclerosis 7 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the PAX2 gene on chromosome 10q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24676634 "DO"] synonym: "FSGS7" EXACT [] synonym: "PAX2-RELATED CONDITION" BROAD [] xref: MIM:616002 xref: NCI:C202604 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis created_by: rgd creation_date: 2017-02-16T00:00:00Z [Term] id: DOID:0111133 name: focal segmental glomerulosclerosis 8 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal dominant mutation of the ANLN gene on chromosome 7p14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24676636 "DO"] synonym: "ANLN-RELATED CONDITION" EXACT [] synonym: "FSGS8" EXACT [] xref: ICD10CM:N04.1 xref: MIM:616032 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1312 ! focal segmental glomerulosclerosis created_by: rgd creation_date: 2017-02-16T00:00:00Z [Term] id: DOID:0111134 name: focal segmental glomerulosclerosis 9 def: "A focal segmental glomerulosclerosis that has_material_basis_in an autosomal recessive mutation of the CRB2 gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25557779 "DO"] synonym: "CRB2-RELATED CONDITION" BROAD [] synonym: "FSGS9" EXACT [] xref: MIM:616220 xref: MONDO:0014539 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1312 ! focal segmental glomerulosclerosis created_by: rgd creation_date: 2017-02-16T00:00:00Z [Term] id: DOID:0111135 name: congenital generalized lipodystrophy type 1 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of AGPAT2 on chromosome 9q34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11967537 "DO"] synonym: "AGPAT2-related Brunzell syndrome" EXACT [] synonym: "Berardinelli Seip congenital lipodystrophy type 1" EXACT [] synonym: "BSCL1" EXACT [] synonym: "CGL1" EXACT [] xref: GARD:84 xref: MIM:608594 xref: MONDO:0012071 is_a: DOID:0050585 ! congenital generalized lipodystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0111136 name: congenital generalized lipodystrophy type 2 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of BSCL2 on chromosome 11q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11479539 "DO"] synonym: "Berardinelli-Seip congenital lipodystrophy type 2" EXACT [] synonym: "Berardinelli-Seip syndrome" EXACT [] synonym: "Berardinelli-Seip syndrome type 2" EXACT [] synonym: "Brunzell syndrome BSCL2-related" EXACT [] synonym: "CGL2" EXACT [] synonym: "total lipodystrophy and acromegaloid gigantism" EXACT [] xref: GARD:10212 xref: MIM:269700 is_a: DOID:0050585 ! congenital generalized lipodystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0111137 name: congenital generalized lipodystrophy type 3 alt_id: MIM:612526 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAV1 on chromosome 7q31.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18237401 "DO"] synonym: "Berardinelli-Seip Congenital Lipodystrophy, Type 3" EXACT [] synonym: "BSCL3" EXACT [] synonym: "CGL3" EXACT [] xref: ICD10CM:E88.1 xref: MESH:C567282 is_a: DOID:0050585 ! congenital generalized lipodystrophy [Term] id: DOID:0111138 name: congenital generalized lipodystrophy type 4 def: "A congenital generalized lipodystrophy that has_material_basis_in an autosomal recessive mutation of CAVIN1 on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19726876 "DO"] synonym: "Berardinelli-Seip congenital lipodystrophy type 4, with muscular dystrophy" EXACT [] synonym: "Brunzell syndrome AGPAT2-related" EXACT [] synonym: "BSCL4" EXACT [] synonym: "CGL4" EXACT [] synonym: "GCL4" EXACT [] synonym: "generalised congenital lipodystrophy type 4" EXACT [] synonym: "generalised congenital lipodystrophy with myopathy" EXACT [] synonym: "generalized congenital lipodystrophy with myopathy" EXACT [] xref: GARD:10937 xref: MESH:C567642 xref: MIM:613327 xref: MONDO:0013225 xref: ORDO:228429 is_a: DOID:0050585 ! congenital generalized lipodystrophy [Term] id: DOID:0111139 name: mitochondrial complex III deficiency def: "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial respiratory chain complex III. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25914718 "DO"] xref: GARD:8295 xref: MIM:PS124000 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111140 name: IGSF1 deficiency syndrome def: "A syndrome characterized by hypothyroidism that is present at birth, delayed testosterone increase in puberty, and testicular enlargement in adulthood that has_material_basis_in mutation of the IGSF1 gene on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC3915563/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23143598 "DO"] synonym: "central hypothyroidism and testicular enlargement" EXACT [] synonym: "central hypothyroidism with testicular enlargement" EXACT [] synonym: "CHTE" EXACT [] synonym: "X-linked central congenital hypothyroidism with late-onset macroorchidism" EXACT [] synonym: "X-linked central congenital hypothyroidism with late-onset testicular enlargement" EXACT [] xref: MIM:300888 xref: ORDO:329235 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1459 ! hypothyroidism is_a: DOID:2519 ! testicular disease [Term] id: DOID:0111141 name: delayed sleep phase syndrome def: "A sleep disorder characterized by an extreme evening preference, sleep-onset insomnia, and difficulty in awakening at the desired time. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12736803 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17445238 "DO"] synonym: "delayed sleep phase disorder, susceptibility to" RELATED [] synonym: "delayed sleep phase syndrome, susceptibility to" RELATED [] synonym: "DSPD" EXACT [] xref: MIM:614163 is_a: DOID:0050628 ! advanced sleep phase syndrome [Term] id: DOID:0111142 name: oligomeganephronia def: "A renal hypoplasia characterized by bilateral reduced kidney size with a marked decrease in the total number of nephrons. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9794553 "DO"] synonym: "Oligomeganephronic renal hypoplasia" EXACT [] xref: GARD:4066 xref: ICD10CM:Q60.4 xref: ORDO:2260 is_a: DOID:0080204 ! renal hypoplasia [Term] id: DOID:0111143 name: mitochondrial complex V (ATP synthase) deficiency def: "A mitochondrial metabolism disease characterized by impaired function of one or more of the proteins making up the mitochondrial proton-transporting ATP synthase complex. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21874297 "DO"] synonym: "mitochondrial complex V (ATP synthase) deficiency, mitochondrial type" NARROW [] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type" NARROW [] xref: GARD:1459 xref: MIM:PS604273 xref: ORDO:254913 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:0111144 name: preterm premature rupture of the membranes alt_id: MIM:610504 def: "A female reproductive system disease characterized by rupture of chorioamniotic membranes before 37 weeks of gestation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15715585/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17400872 "DO"] synonym: "PPROM" EXACT [] synonym: "preterm premature rupture of fetal membranes" EXACT [] synonym: "preterm PROM (pregnancy)" EXACT [] xref: MESH:C563032 xref: MONDO:0012511 is_a: DOID:229 ! female reproductive system disease is_a: DOID:9005304 ! Fetal Membranes, Premature Rupture [Term] id: DOID:0111145 name: ureteropelvic junction obstruction def: "A urinary tract obstruction characterized by a blockage at the renal pelvis where the kidney attaches to the ureter. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28695117 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28992643 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29068584 "DO"] is_a: DOID:5200 ! urinary tract obstruction [Term] id: DOID:0111146 name: acquired von Willebrand syndrome def: "A blood coagulation disease characterized by development of a defect in clotting in the absence of previous bleeding symptoms, negative familial history, and occurrence in a relatively older age. Typically this develops secondarily to other disorders, such as lymphoproliferative, myeloproliferative, cardiovascular and autoimmune disorders. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28028990 "DO"] synonym: "AVWS" EXACT [] xref: GARD:5573 xref: ICD10CM:D68.04 xref: ORDO:99147 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:0111147 name: angioimmunoblastic T-cell lymphoma def: "A peripheral T-cell lymphoma characterized by autoimmune features and poor prognosis. (DO)" [https://rarediseases.org/rare-diseases/angioimmunoblastic-t-cell-lymphoma/ "DO", https://www.lymphoma.org/aboutlymphoma/nhl/aitl/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22700722 "DO"] synonym: "EFO:0000255" EXACT [] xref: EFO:0000255 xref: GARD:11973 xref: ICD10CM:C86.5 xref: ICDO:9705/3 xref: NCI:C7528 xref: ORDO:86886 is_a: DOID:0050749 ! peripheral T-cell lymphoma [Term] id: DOID:0111148 name: isolated ectopia lentis def: "A lens disease characterized by abnormal stretching of the zonular fibers resulting in dislocation of the lens. This dislocation may be mild to severe and may progress with age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20141359 "DO"] synonym: "familial ectopia lentis" EXACT [] synonym: "IEL" EXACT [] xref: ICD10CM:Q12.1 xref: ICD9CM:743.37 xref: MESH:C536184 xref: NCI:C125484 xref: NCI:C34566 xref: ORDO:1885 is_a: DOID:9004201 ! Ectopia Lentis [Term] id: DOID:0111149 name: autosomal recessive isolated ectopia lentis 2 alt_id: MIM:225100 def: "An isolated ectopia lentis that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL4 gene on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19200529 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20141359 "DO"] synonym: "ADAMTSL4-RELATED CONDITION" BROAD [] synonym: "ECTOL2" EXACT [] synonym: "Isolated Ectopia Lentis, Autosomal Recessive" EXACT [] xref: MESH:C567124 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111148 ! isolated ectopia lentis [Term] id: DOID:0111150 name: autosomal dominant isolated ectopia lentis 1 def: "An isolated ectopia lentis that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15054843 "DO"] synonym: "autosomal dominant isolated ectopia lentis" EXACT [] synonym: "ECTOL1" EXACT [] synonym: "familial ectopia lentis" EXACT [] xref: MIM:129600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111148 ! isolated ectopia lentis [Term] id: DOID:0111151 name: Prinzmetal angina alt_id: MESH:C536421 def: "A coronary artery vasospasm characterized by spasms of the coronary arteries that occur while at rest, generally late at night or early in the morning, resulting in severe chest pain with preserved exercise capacity. (DO)" [http://www.heart.org/HEARTORG/Conditions/HeartAttack/DiagnosingaHeartAttack/Prinzmetals-or-Prinzmetal-Angina-Variant-Angina-and-Angina-Inversa_UCM_435674_Article.jsp#.WVavl2cicRk "DO", https://www.ncbi.nlm.nih.gov/pubmed/28613527 "DO"] synonym: "angina inversa" EXACT [] synonym: "Prinzmetal's angina" EXACT [] synonym: "Prinzmetal's variant angina" EXACT [] synonym: "Prinzmetals angina" EXACT [] synonym: "variant angina" EXACT [] synonym: "variant angina pectoris" EXACT [] xref: EFO:1000013 xref: MESH:D000788 is_a: DOID:11840 ! coronary artery vasospasm is_a: DOID:8805 ! intermediate coronary syndrome [Term] id: DOID:0111152 name: multicentric Castleman disease def: "A Castleman disease characterized by systemic inflammatory symptoms, polyclonal lymphoproliferation, cytopenias, and multiple organ system dysfunction caused by a cytokine storm often including interleukin-6. (DO)" [http://www.bloodjournal.org/content/129/12/1646 "DO", https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease "DO"] synonym: "HHV-8-associated multicentric Castleman disease" EXACT [] synonym: "HHV8 Multicentric Castleman Disease" EXACT [] synonym: "Idiopathic multicentric Castleman's disease" EXACT [] synonym: "KSHV-Associated Multicentric Castleman Disease" EXACT [] synonym: "KSHV Muticentric Castleman Disease" EXACT [] synonym: "MCD" EXACT [] synonym: "Multi-centric Castleman's Disease" EXACT [] synonym: "Multicentric Castleman's disease" EXACT [] synonym: "multicentric giant lymph node hyperplasia" EXACT [] synonym: "Multicentric plasma cell variant of Castleman's disease" EXACT [] synonym: "plasmablastic multicentric Castleman disease" EXACT [] synonym: "PMCD" EXACT [] synonym: "Tafro syndrome" EXACT [] xref: GARD:9644 xref: MESH:C537372 xref: NCI:C27855 xref: ORDO:93686 is_a: DOID:0111157 ! Castleman disease [Term] id: DOID:0111153 name: congenital mirror movement disorder def: "A movement disease characterized by involuntary movements of one side of the body that mirror intentional movements on the opposite side primarily involving the upper limbs. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder#sourcesforpage "DO", https://www.ncbi.nlm.nih.gov/pubmed/25763452 "DO"] synonym: "familial congenital controlateral synkinesia" EXACT [] synonym: "familial congenital mirror movements" EXACT [] synonym: "hereditary congenital controlateral synkinesia" EXACT [] synonym: "hereditary congenital mirror movements" EXACT [] synonym: "isolated congenital controlateral synkinesia" EXACT [] synonym: "isolated congenital mirror movements" EXACT [] xref: MIM:PS157600 xref: ORDO:238722 is_a: DOID:0080015 ! physical disorder is_a: DOID:480 ! movement disease [Term] id: DOID:0111154 name: postural orthostatic tachycardia syndrome def: "A heart conduction disease characterized by orthostatic intolerance that has_material_basis_in heterozygous mutation in the SLC6A2 gene on chromosome 16q12.2. (DO)" [https://rarediseases.info.nih.gov/diseases/9597/postural-orthostatic-tachycardia-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23580201 "DO"] synonym: "chronic orthostatic intolerance" EXACT [] synonym: "familial orthostatic tachycardia due to norepinephrine transporter deficiency" EXACT [] synonym: "irritable heart" EXACT [] synonym: "orhtostatic intolerance" EXACT [] synonym: "orthostatic intolerance" EXACT [] synonym: "orthostatic intolerance due to NET deficiency" EXACT [] synonym: "postural tachycardia syndrome" EXACT [] synonym: "postural tachycardia syndrome due to NET deficiency" EXACT [] synonym: "POTS" EXACT [] synonym: "soldiers heart" EXACT [] xref: EFO:1000645 xref: GARD:9597 xref: ICD10CM:I95.1 xref: MESH:D054972 xref: ORDO:443236 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10273 ! heart conduction disease is_a: DOID:225 ! syndrome is_a: DOID:9004453 ! Orthostatic Intolerance [Term] id: DOID:0111155 name: autosomal recessive spinocerebellar ataxia 21 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26581903 "DO"] synonym: "acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia 21 with hepatopathy" EXACT [] synonym: "CALFAN SYNDROME" EXACT [] synonym: "SCAR21" EXACT [] synonym: "SCYL1-RELATED CONDITION" EXACT [] xref: MIM:616719 xref: NCI:C159655 xref: ORDO:466794 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111156 name: spermatogenic failure 9 alt_id: DOID:0070175 def: "A male infertility characterized by round-headed spermatozoa lacking an acrosome and that has_material_basis_in autosomal recessive inheritance in a mutation in the DPY19L2 gene on chromosome 12q14. (DO)" [https://ghr.nlm.nih.gov/condition/globozoospermia "DO", https://www.ncbi.nlm.nih.gov/pubmed/10471512 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21397064 "DO"] synonym: "complete globozoospermia" EXACT [] synonym: "SPGF9" EXACT [] synonym: "total globozoospermia" EXACT [] xref: MIM:613958 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112312 ! male infertility due to globozoospermia [Term] id: DOID:0111157 name: Castleman disease alt_id: RDO:0001923 def: "A lymphoproliferative syndrome characterized by one or more enlarged lymph nodes containing cells with hyaline-vascular, plasmacytic, or mixed appearance microscopically. (DO)" [https://rarediseases.org/rare-diseases/castlemans-disease/ "DO"] synonym: "angiofollicular lymph hyperplasia" EXACT [] synonym: "Angiofollicular Lymph Hyperplasias" EXACT [] synonym: "Angiofollicular Lymph Node Hyperplasia" EXACT [] synonym: "Angiofollicular Lymphoid Hyperplasia" EXACT [] synonym: "Angiofollicular Lymphoid Hyperplasias" EXACT [] synonym: "Castleman's Disease" EXACT [] synonym: "Castleman's Tumor" EXACT [] synonym: "Castlemans Disease" EXACT [] synonym: "Castlemans Tumor" EXACT [] synonym: "Castleman Tumor" EXACT [] synonym: "giant lymph node hyperplasia" EXACT [] synonym: "GLNH" EXACT [] synonym: "lymphoid hamartoma" EXACT [] xref: EFO:1001332 xref: GARD:12656 xref: ICD10CM:D47.Z2 xref: MESH:D005871 xref: NCI:C3056 xref: ORDO:160 is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:0111158 name: SADDAN def: "A syndrome characterized by severe achondroplasia, developmental delay and acanthosis nigricans that has_material_basis_in heterozygous mutation in the FGFR3 gene on chromosome 4p16. (DO)" [https://ghr.nlm.nih.gov/condition/saddan "DO", https://www.ncbi.nlm.nih.gov/pubmed/10053006 "DO"] synonym: "SADDAN dysplasia" EXACT [] synonym: "SADDAN dysplasias" EXACT [] synonym: "severe achondroplasia with developmental delay and acanthosis nigricans" EXACT [] xref: GARD:9443 xref: MIM:616482 xref: ORDO:85165 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:4480 ! achondroplasia [Term] id: DOID:0111159 name: partial trisomy distal 4q alt_id: RDO:0003518 def: "A chromosomal duplication syndrome characterized by growth deficiency, abnormal muscle tone, intellectual disability, and distinctive craniofacial malformations that has_material_basis_in duplication of the distal portion of chromosome 4q. (DO)" [https://rarediseases.org/rare-diseases/chromosome-4-partial-trisomy-distal-4q/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23449628 "DO"] synonym: "chromosome 4, partial trisomy 4q" EXACT [] synonym: "chromosome 4, partial trisomy distal 4q" EXACT [] synonym: "distal 4q trisomy" EXACT [] synonym: "Dup(4q) Syndrome, Partial" EXACT [] synonym: "Duplication 4q Syndrome, Partial" EXACT [] synonym: "partial trisomy 4q syndrome" EXACT [] xref: MESH:C537642 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:0111160 name: camptodactyly-tall stature-scoliosis-hearing loss syndrome alt_id: MIM:610474 def: "A syndrome characterized by camptodactyly, tall stature, scoliosis, and hearing loss that has_material_basis_in partial loss of function in the FGFR3 gene on chromosome 4p16. (DO)" [https://rarediseases.info.nih.gov/diseases/10012/camptodactyly-tall-stature-and-hearing-loss-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/17033969 "DO"] synonym: "camptodactyly, tall stature, and hearing loss syndrome" EXACT [] synonym: "CATSHLS" EXACT [] synonym: "CATSHL syndrome" EXACT [] xref: MESH:C537975 xref: ORDO:85164 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111161 name: Crouzon syndrome-acanthosis nigricans syndrome alt_id: MIM:612247 def: "A syndrome characterized by Crouzon-like features, premature synostosis of cranial sutures, and acanthosis nigricans that has_material_basis_in heterozygous missense mutation in the FGFR3 gene on chromosome 4p16. (DO)" [https://ghr.nlm.nih.gov/condition/crouzon-syndrome-with-acanthosis-nigricans "DO", https://www.ncbi.nlm.nih.gov/pubmed/2650599 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7493034 "DO"] synonym: "CAN" EXACT [] synonym: "Crouzon-dermoskeletal syndrome" EXACT [] synonym: "Crouzonodermoskeletal Syndrome" EXACT [] synonym: "Crouzon syndrome with acanthosis nigricans" EXACT [] xref: MESH:C567382 xref: ORDO:93262 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:3138 ! acanthosis nigricans [Term] id: DOID:0111162 name: epidermal nevus alt_id: MIM:162900 def: "A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7526210 "DO"] synonym: "epidermal naevus" EXACT [] synonym: "NEVUS SEBACEOUS" NARROW [] synonym: "NEVUS, WOOLLY HAIR" NARROW [] synonym: "nonepidermolytic keratinocytic nevus" EXACT [] xref: MESH:C580062 is_a: DOID:37 ! skin disease is_a: DOID:9002969 ! Nevus [Term] id: DOID:0111163 name: molybdenum cofactor deficiency type B alt_id: MIM:252160 def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS2 gene on chromosome 5q11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10053004 "DO"] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B" EXACT [] synonym: "MOCODB" EXACT [] synonym: "MOCOD type B" EXACT [] synonym: "molybdenum cofactor deficiency, complementation group B" EXACT [] xref: MESH:C565373 xref: ORDO:308393 is_a: DOID:0111165 ! molybdenum cofactor deficiency [Term] id: DOID:0111164 name: molybdenum cofactor deficiency type A def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MOCS1 gene on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9731530 "DO"] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A" EXACT [] synonym: "MOCODA" EXACT [] synonym: "MOCOD type A" EXACT [] synonym: "MOCS1-RELATED CONDITION" EXACT [] synonym: "molybdenum cofactor deficiency, complementation group A" EXACT [] xref: MESH:C565372 xref: MIM:252150 xref: MONDO:0009643 xref: ORDO:308386 is_a: DOID:0111165 ! molybdenum cofactor deficiency [Term] id: DOID:0111165 name: molybdenum cofactor deficiency alt_id: RDO:0001121 def: "A metal metabolism disease characterized by encephalopathy that worsens over time resulting from the absence of molybdenum cofactor which leads to accumulation of toxic levels of sulphite and neurological damage. (DO)" [https://en.wikipedia.org/wiki/Molybdenum_cofactor_deficiency "DO", https://ghr.nlm.nih.gov/condition/molybdenum-cofactor-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/10746556 "DO"] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase" EXACT [] synonym: "MOCOD" EXACT [] xref: GARD:3705 xref: MESH:C535811 xref: MIM:PS252150 xref: NCI:C129076 xref: ORDO:99732 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0111166 name: molybdenum cofactor deficiency type C def: "A molybdenum cofactor deficiency that has_material_basis_in homozygous mutation in the GPHN gene on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11095995 "DO"] synonym: "combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C" EXACT [] synonym: "MOCODC" EXACT [] synonym: "MOCOD type C" EXACT [] synonym: "molybdenum cofactor deficiency complementation group C" EXACT [] synonym: "sulfite oxidase deficiency due to molybdenum cofactor deficiency type C" EXACT [] xref: MESH:C565374 xref: MIM:615501 xref: MONDO:0014212 xref: ORDO:308400 is_a: DOID:0111165 ! molybdenum cofactor deficiency [Term] id: DOID:0111167 name: Dyggve-Melchior-Clausen disease alt_id: MIM:223800 alt_id: MIM:304950 def: "A spondyloepimetaphyseal dysplasia characterized by clawed fingers, platyspondyly of the spine, abnormalities of the iliac crest, intellectual disability and mucopolysaccharide in the urine that has_material_basis_in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12491225 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21032395 "DO"] synonym: "DMC" EXACT [] synonym: "DMC disease" EXACT [] synonym: "Dyggve-Melchior-Clausen syndrome" EXACT [] synonym: "Dyggve-Melchior-Clausen syndrome X linked" EXACT [] synonym: "DYM-RELATED CONDITION" BROAD [] synonym: "pseudo-Morquio disease type I" EXACT [] xref: GARD:6295 xref: MESH:C535726 xref: NCI:C124844 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111168 name: sepiapterin reductase deficiency alt_id: MIM:612716 alt_id: RDO:0012274 def: "A dystonia characterized by sustained muscle contractions with diurnal fluctuations, axial hypotonia, oculogyric crises, delays in motor and cognitive development and severe dopamine and serotonin deficiencies that has_material_basis_in mutation in the SPR gene on chromosome 2p resulting in sepiapterin reductase deficiency. (DO)" [https://ghr.nlm.nih.gov/condition/sepiapterin-reductase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/11443547 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15241655 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22522443 "DO"] synonym: "dopa-responsive dystonia due to sepiapterin reductase deficiency" EXACT [] synonym: "DRD due to SRD" EXACT [] synonym: "SPR deficiency" EXACT [] synonym: "SRD" EXACT [] xref: GARD:10365 xref: MESH:C562657 xref: ORDO:70594 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:543 ! dystonia is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0111169 name: subcortical band heterotopia def: "A congenital nervous system abnormality characterized by migration of neurons to ectopic locations in the brain where the neurons form areas that appear as band-like clusters of white tissue underneath the gray tissue of the cerebral cortex. (DO)" [https://rarediseases.info.nih.gov/diseases/1904/subcortical-band-heterotopia "DO", https://www.ncbi.nlm.nih.gov/pubmed/24859200 "DO"] synonym: "band heterotopia" EXACT [] synonym: "band heterotopia of brain" EXACT [] synonym: "BH" EXACT [] synonym: "DC syndrome" EXACT [] synonym: "double cortex" EXACT [] synonym: "double cortex syndrome" EXACT [] synonym: "HeCo" EXACT [] synonym: "heterotopic cortex" EXACT [] synonym: "subcortical laminar heterotopia" EXACT [] xref: MESH:C538475 xref: MESH:C563950 xref: MIM:600348 xref: MONDO:0020491 xref: NCI:C116933 xref: ORDO:99796 is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias [Term] id: DOID:0111170 name: autosomal dominant sensory ataxia 1 def: "A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15286160 "DO"] synonym: "ADSA" EXACT [] synonym: "SNAX1" EXACT [] xref: MIM:608984 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050951 ! hereditary ataxia [Term] id: DOID:0111180 name: French Canadian Leigh disease alt_id: MIM:220111 def: "A cytochrome-c oxidase deficiency disease characterized by metabolic and/or neurological crises, chronic hyperlactataemia, hypotonia, ataxia, mild facial dysmorphism, delayed development and development of lesions in the brainstem and basal ganglia that has_material_basis_in homozygous or compound heterozygous mutations in LRPPRC on 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12529507 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21266382 "DO"] synonym: "Cox deficiency, French Canadian type" EXACT [] synonym: "COX deficiency, Saguenay Lac Saint Jean type" EXACT [] synonym: "cytochrome c oxidase deficiency, French Canadian type" EXACT [] synonym: "Leigh syndrome, French Canadian type" EXACT [] synonym: "Leigh syndrome, Saguenay Lac Saint Jean type" EXACT [] synonym: "LSFC" EXACT [] synonym: "MC4DN5" EXACT [] synonym: "mitochondrial complex IV deficiency nuclear type 5" EXACT [] synonym: "mitochondrial complex IV deficiency nuclear type 5 (French-Canadian)" EXACT [] xref: GARD:8370 xref: MESH:C537004 xref: ORDO:70472 is_a: DOID:3652 ! Leigh disease [Term] id: DOID:0111181 name: familial hemiplegic migraine 1 alt_id: MIM:141500 def: "A familial hemiplegic migraine that is commonly associated with cerebellar degeneration and has_material_basis_in heterozygous mutation in CACNA1A on 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1388/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/8898206 "DO"] synonym: "familial hemiplegic migraine 1 with progressive cerebellar ataxia" EXACT [] synonym: "familial hemiplegic migraine1 with progressive cerebellar ataxia" EXACT [] synonym: "Familial Hemiplegic Migraine, Type 1" EXACT [] synonym: "FHM" EXACT [] synonym: "FHM1" EXACT [] synonym: "MHP1" EXACT [] synonym: "sporadic hemiplegic migraine" RELATED [] synonym: "sporadic hemiplegic migraine with progressive cerebellar ataxia" RELATED [] xref: GARD:2638 xref: MESH:C536890 xref: NCI:C189277 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:0060178 ! familial hemiplegic migraine [Term] id: DOID:0111182 name: familial hemiplegic migraine 2 alt_id: MIM:602481 def: "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in ATP1A2 on 1q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12539047 "DO"] synonym: "Familial Hemiplegic Migraine, Type 2" EXACT [] synonym: "FHM2" EXACT [] synonym: "MHP2" EXACT [] synonym: "MHP2 MIGRAINE, FAMILIAL BASILAR" NARROW [] xref: GARD:10095 xref: MESH:C537246 is_a: DOID:0060178 ! familial hemiplegic migraine [Term] id: DOID:0111183 name: familial hemiplegic migraine 3 def: "A familial hemiplegic migraine that has_material_basis_in heterozygous mutation in SCN1A on 2q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16054936 "DO"] synonym: "familial hemiplegic migraine, type 3" EXACT [] synonym: "FHM3" EXACT [] synonym: "MHP3" EXACT [] xref: GARD:10974 xref: MESH:C566500 xref: MIM:609634 xref: MONDO:0012320 is_a: DOID:0060178 ! familial hemiplegic migraine [Term] id: DOID:0111184 name: myopathy, lactic acidosis, and sideroblastic anemia 3 def: "A myopathy, lactic acidosis, and sideroblastic anemia characterized by early infantile onset of transfusion-dependent sideroblastic anemia with failure to thrive, hearing loss, epilepsy, stroke-like episodes, and severe developmental delay that has_material_basis_in heteroplasmic mutation in MTATP6 encoded by nucleotides 8527-9207 of the mitochondrial genome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25037980 "DO"] synonym: "mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 3" EXACT [] synonym: "MLASA3" EXACT [] xref: MIM:500011 is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: DOID:0111185 name: myopathy, lactic acidosis, and sideroblastic anemia 1 def: "A myopathy, lactic acidosis, and sideroblastic anemia that has_material_basis_in homozygous or compound heterozygous mutation in PUS1 on 12q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15108122 "DO"] synonym: "MLASA1" EXACT [] synonym: "PUS1-RELATED CONDITION" EXACT [] xref: MIM:600462 is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: DOID:0111186 name: myopathy, lactic acidosis, and sideroblastic anemia 2 def: "A myopathy, lactic acidosis, and sideroblastic anemia characterized by marked phenotypic variablity in time of onset and severity of symptoms that has_material_basis_in homozyous or compound heterozygous mutation in YARS2 on 12p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20598274 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24344687 "DO"] synonym: "MLASA2" EXACT [] xref: MIM:613561 is_a: DOID:0080099 ! myopathy, lactic acidosis, and sideroblastic anemia [Term] id: DOID:0111187 name: distal myopathy with anterior tibial onset alt_id: MIM:606768 def: "A distal myopathy that is characterized by onset at 14-28 years of age starting first in the anterior tibial muscles and involving both upper and lower proximal muscles that has_material_basis_in homozygous mutation in the gene encoding dysferlin (DYSF) on chromosome 2p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11198284 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9731526 "DO"] synonym: "distal muscular dystrophy with anterior tibial onset" EXACT [] synonym: "DMAT" EXACT [] xref: MESH:C564664 xref: ORDO:178400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111188 name: myofibrillar myopathy 9 alt_id: MESH:C564377 alt_id: MESH:C566343 def: "A myofibrillar myopathy characterized by adult onset of slowly progressive muscle weakness involving the diaphragm and resulting in respiratory insufficiency that has_material_basis_in heterozygous mutation in the TTN gene on chromosome 2q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15802564 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23486992 "DO"] synonym: "distal myopathy with early respiratory failure, autosomal dominant" EXACT [] synonym: "Edstrom Myopathy" EXACT [] synonym: "hereditary inclusion body myopathy with early respiratory failure" EXACT [] synonym: "Hereditary Myopathy with Early Respiratory Failure" EXACT [] synonym: "HIBM-ERF" EXACT [] synonym: "HMERF" EXACT [] synonym: "MFM9" EXACT [] synonym: "MFM-titinopathy" EXACT [] synonym: "MPRM" EXACT [] synonym: "Myofibrillar Myopathy 9 with Early Respiratory Failure" EXACT [] synonym: "myofibrillar myopathy-titinopathy" EXACT [] synonym: "proximal myopathy with early respiratory muscle involvement" EXACT [] xref: EFO:0010828 xref: GARD:12591 xref: MIM:603689 xref: ORDO:178464 is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:11162 ! respiratory failure is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111189 name: distal myopathy 3 alt_id: MIM:610099 def: "A distal myopathy that is characterized by adult onset of slowly progressive distal muscular weakness and atrophy affecting the upper and lower limbs, leading to difficulties using the hands and walking difficulties and that has significant linkage to 2 distinct regions on chromosomes 8p22-q11 and 12q13-q22 and that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34722876/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/12847162 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15036327 "DO"] synonym: "distal muscular dystrophy 3" EXACT [] synonym: "distal myopathy type 3" EXACT [] synonym: "MPD3" EXACT [] xref: MESH:C566445 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111190 name: distal myopathy 4 def: "A distal myopathy that has_material_basis_in heterozygous mutation in FLNC on 7q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21620354 "DO"] synonym: "distal ABD-filaminopathy" EXACT [] synonym: "distal muscular dystrophy 4" EXACT [] synonym: "distal myopathy with posterior leg and anterior hand involvement" EXACT [] synonym: "MPD4" EXACT [] synonym: "WILLIAMS DISTAL MYOPATHY" EXACT [] xref: MIM:614065 is_a: DOID:11720 ! distal myopathy [Term] id: DOID:0111191 name: distal myopathy Tateyama type def: "A distal myopathy that has_material_basis_in heterozygous mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11805270 "DO"] synonym: "distal muscular dystrophy Tateyama type" EXACT [] synonym: "MPDT" EXACT [] xref: MIM:614321 xref: ORDO:488650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11720 ! distal myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111192 name: facioscapulohumeral muscular dystrophy 1 alt_id: MIM:158900 def: "A facioscapulohumeral muscular dystrophy that has_material_basis_in contraction of the D4Z4 macrosatellite repeat in the subtelomeric region of chromosome 4q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1363881 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15154112 "DO"] synonym: "FACIOSCAPULOHUMERAL DYSTROPHY WITH SENSORINEURAL HEARING LOSS AND TORTUOSITY OF RETINAL ARTERIOLES" NARROW [] synonym: "Facioscapulohumeral Muscular Dystrophy 1A" EXACT [] synonym: "Facioscapulohumeral muscular dystrophy, infantile" EXACT [] synonym: "facioscapulohumeral muscular dystrophy, type 1" EXACT [] synonym: "facioscapulohumeral muscular dystrophy, type 1a" EXACT [] synonym: "FSHD1" EXACT [] synonym: "FSHD1A" EXACT [] synonym: "FSHMD1A" EXACT [] xref: MESH:C536391 xref: NCI:C172704 is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy [Term] id: DOID:0111193 name: facioscapulohumeral muscular dystrophy 2 alt_id: MIM:158901 def: "A facioscapulohumeral muscular dystrophy that has_material_basis_in digenic inheritance of a heterozygous mutation in the SMCHDI gene on 18p11.32 and a haplotype on chromosome 4 that is permissive for DUX4 expression. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20975055 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23143600 "DO"] synonym: "facioscapulohumeral muscular dystrophy 1B" EXACT [] synonym: "facioscapulohumeral muscular dystrophy 2, digenic" EXACT [] synonym: "facioscapulohumeral muscular dystrophy, type 1B" EXACT [] synonym: "facioscapulohumeral muscular dystrophy, type 2" EXACT [] synonym: "FSHD1B" EXACT [] synonym: "FSHD2" EXACT [] synonym: "FSHD2, digenic" EXACT [] synonym: "FSHMD1B" EXACT [] synonym: "SMCHD1-RELATED CONDITION" BROAD [] synonym: "weakness of facial musculature" NARROW [] xref: MESH:C563557 xref: NCI:C172705 is_a: DOID:0080578 ! digenic disease is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy [Term] id: DOID:0111194 name: autosomal dominant adult-onset proximal spinal muscular atrophy alt_id: MIM:182980 def: "A spinal muscular atrophy characterized by adult-onset of slowly progressive, proximal muscular weakness with fasciculations and absent/hypoactive deep tendon reflexes, without bulbar or pyramidal involvement that has_material_basis_in heterozygous mutation in VAPB on 20q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15372378 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7258225 "DO"] synonym: "autosomal dominant adult-onset proximal SMA" EXACT [] synonym: "autosomal dominant late-onset spinal muscular atrophy, Finkel type" EXACT [] synonym: "Finkel disease" EXACT [] synonym: "Finkel Late-Adult Type SMA" EXACT [] synonym: "SMAFK" EXACT [] synonym: "SPINAL MUSCULAR ATROPHY, LATE-ONSET, FINKEL TYPE" EXACT [] synonym: "Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant" EXACT [] xref: MESH:C566673 xref: ORDO:209335 is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111195 name: erythrokeratodermia variabilis et progressiva 1 alt_id: MIM:133200 def: "An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12019212 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9843209 "DO"] synonym: "EKVP1" EXACT [] is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111196 name: X-linked distal spinal muscular atrophy 3 alt_id: MIM:300489 def: "A spinal muscular atrophy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with absence of cognitive, pyramidal, or sensory impairment that has_material_basis_in homozygous or hemizygous mutation in ATP7A on Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14985388 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20170900 "DO"] synonym: "ATP7A-related distal motor neuropathy" EXACT [] synonym: "DSMAX" EXACT [] synonym: "HMNX" EXACT [] synonym: "SMAX3" EXACT [] synonym: "X-linked dHMN3" EXACT [] synonym: "X-linked distal hereditary motor neuronopathy" EXACT [] synonym: "X-linked distal hereditary motor neuropathy type 3" EXACT [] synonym: "X-linked distal spinal muscular atrophy, recessive" EXACT [] synonym: "X-linked dSMA3" EXACT [] xref: MESH:C564506 xref: ORDO:139557 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111197 name: autosomal recessive distal hereditary motor neuronopathy def: "A spinal muscular atrophy that has_material_basis_in autosomal recessive inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15358725 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy" EXACT [] xref: MIM:PS604320 xref: ORDO:140468 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111198 name: autosomal dominant distal hereditary motor neuronopathy def: "A spinal muscular atrophy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration, and that has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15358725 "DO"] synonym: "autosomal dominant dHMN" EXACT [] synonym: "autosomal dominant distal hereditary motor neuropathy" EXACT [] synonym: "autosomal dominant distal spinal muscular atrophy" EXACT [] xref: MIM:PS182960 xref: ORDO:140465 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111199 name: autosomal dominant distal hereditary motor neuronopathy 7 alt_id: DOID:0111201 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by slowly progressive distal atrophy and weakness affecting first the upper limbs and later the lower limbs and vocal cord paresis and that has_material_basis_in heterozygous mutation in the SLC5A7 gene on 2q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23141292 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7420092 "DO"] synonym: "dHMN7" EXACT [] synonym: "DHMN7A" EXACT [] synonym: "DHMNVP" EXACT [] synonym: "DHMNVPy" EXACT [] synonym: "distal hereditary motor neuronopathy, autosomal dominant 7" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VIIA" EXACT [] synonym: "distal hereditary motor neuronopathy type 7" EXACT [] synonym: "distal hereditary motor neuronopathy type 7A" EXACT [] synonym: "distal hereditary motor neuronopathy type VIIA" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VIIA" EXACT [] synonym: "distal hereditary motor neuropathy type VIIA" EXACT [] synonym: "distal spinal muscular atrophy with vocal cord paralysis" EXACT [] synonym: "distal spinal muscular atrophy with vocal cord paralysis type 7A" EXACT [] synonym: "Harper-Young myopath" EXACT [] synonym: "Harper-Young myopathy" EXACT [] synonym: "HMN7A" EXACT [] synonym: "HMND7" EXACT [] synonym: "HMN VIIA" EXACT [] xref: MESH:C563562 xref: MIM:158580 xref: MONDO:0008024 xref: ORDO:139589 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:9000586 ! Vocal Cord Paralysis [Term] id: DOID:0111200 name: autosomal dominant distal hereditary motor neuronopathy 1 alt_id: MIM:182960 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment, that is caused by anterior horn cell degeneration and that has_material_basis_in heterozygous 1.35-Mb DNA insertion on chromosome 7q34-q36.2. This structural variant (SV) results in the production of a novel gene-intergenic fusion transcript, UBE3C-IF. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17354000 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7365507 "DO"] synonym: "autosomal dominant distal juvenile spinal muscular atrophy type 1" EXACT [] synonym: "dHMN1" EXACT [] synonym: "distal hereditary motor neuronopathy type 1" EXACT [] synonym: "distal hereditary motor neuropathy, type 1" EXACT [] synonym: "distal hereditary motor neuropathy, type I" EXACT [] synonym: "distal spinal muscular atrophy, juvenile, autosomal dominant, I" EXACT [] synonym: "HMN1" EXACT [] synonym: "HMND1" EXACT [] synonym: "HMN I" EXACT [] synonym: "spinal Charcot-Marie-Tooth disease 1" EXACT [] synonym: "spinal Charcot-Marie-Tooth disease I" EXACT [] xref: MESH:C566675 xref: MONDO:0008451 xref: NCI:C132826 xref: ORDO:139518 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:0111202 name: autosomal dominant distal hereditary motor neuronopathy 14 alt_id: MIM:607641 def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the DCTN1 gene on 2p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12627231 "DO"] synonym: "DHMN7B" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VIIB" EXACT [] synonym: "distal hereditary motor neuronopathy type 7B" EXACT [] synonym: "distal hereditary motor neuronopathy, type VIIB" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VIIB" EXACT [] synonym: "distal hereditary motor neuropathy type VIIB" EXACT [] synonym: "distal hereditary motor neuropathy with vocal cord paralysis, Harding type VIIB" EXACT [] synonym: "distal hereditary motor neuropathy with vocal cord paralysis, type VIIB" EXACT [] synonym: "distal spinal muscular atrophy with vocal cord paralysis type 7B" EXACT [] synonym: "GENETIC MOTOR NEURON DISEASE" BROAD [] synonym: "HMN7B" EXACT [] synonym: "HMND14" EXACT [] synonym: "HMN VIIB" EXACT [] synonym: "Lower Motor Neuron Disease, Dynactin Type" EXACT [] xref: MESH:C564362 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111203 name: autosomal dominant distal hereditary motor neuronopathy 5 alt_id: DOID:0111204 alt_id: MIM:600794 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of distal muscle weakness and atrophy predominantly affecting the upper limbs in the first few decades of life and that has_material_basis_in heterozygous mutation in the GARS gene on chromosome 7p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12690580 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22703882 "DO"] synonym: "DHMN5" EXACT [] synonym: "DHMN5A" EXACT [] synonym: "Dhmn-V" EXACT [] synonym: "DHMN VA" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VA" EXACT [] synonym: "distal hereditary motor neuronopathy type 5" EXACT [] synonym: "distal hereditary motor neuronopathy type 5A" EXACT [] synonym: "Distal Hereditary Motor Neuronopathy, Type V" EXACT [] synonym: "distal hereditary motor neuronopathy type VA" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VA" EXACT [] synonym: "Distal Hereditary Motor Neuropathy, Type V" EXACT [] synonym: "distal hereditary motor neuropathy, type VA" EXACT [] synonym: "distal HMN V" EXACT [] synonym: "distal HMN VA" EXACT [] synonym: "distal spinal muscular atrophy, Harding type V" EXACT [] synonym: "Distal Spinal Muscular Atrophy, Type V" EXACT [] synonym: "distal spinal muscular atrophy, type VA" EXACT [] synonym: "distal spinal muscular atrophy, with upper limb predominance" EXACT [] synonym: "DSMAV" EXACT [] synonym: "DSMAVA" EXACT [] synonym: "HMN5" EXACT [] synonym: "HMN 5A" EXACT [] synonym: "HMN5A" EXACT [] synonym: "HMND5" EXACT [] synonym: "HMN V" EXACT [] synonym: "HMN VA" EXACT [] xref: MESH:C563443 xref: ORDO:139536 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111205 name: autosomal dominant distal hereditary motor neuronopathy 12 def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the REEP1 gene on 2p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22703882 "DO"] synonym: "DHMN5B" EXACT [] synonym: "DHMN VB" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type VB" EXACT [] synonym: "distal hereditary motor neuronopathy type 5B" EXACT [] synonym: "distal hereditary motor neuronopathy type VB" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type VB" EXACT [] synonym: "distal hereditary motor neuropathy, type VB" EXACT [] synonym: "distal HMN VB" EXACT [] synonym: "distal spinal muscular atrophy, Harding type VB" EXACT [] synonym: "distal spinal muscular atrophy, type VB" EXACT [] synonym: "DSMAVB" EXACT [] synonym: "HMN5B" EXACT [] synonym: "HMND12" EXACT [] synonym: "HMN VB" EXACT [] xref: MIM:614751 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111206 name: autosomal dominant distal hereditary motor neuronopathy 2 alt_id: DOID:0111208 alt_id: MIM:158590 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by onset of slowly progressive distal limb weakness and atrophy between the second and fifth decades of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15122253 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1517763 "DO"] synonym: "autosomal dominant adult spinal muscular atrophy IIA" EXACT [] synonym: "Charcot-Marie-Tooth Disease, Spinal, IIA" EXACT [] synonym: "DHMN2A" EXACT [] synonym: "distal hereditary motor neuronopathy, autosomal dominant 2" EXACT [] synonym: "distal hereditary motor neuronopathy type 2" EXACT [] synonym: "distal hereditary motor neuronopathy type 2A" EXACT [] synonym: "distal hereditary motor neuronopathy, type IIA" EXACT [] synonym: "DISTAL HEREDITARY MOTOR NEUROPATHY TYPE 2" EXACT [] synonym: "distal hereditary motor neuropathy type II" EXACT [] synonym: "distal hereditary motor neuropathy type IIA" EXACT [] synonym: "distal spinal muscular atrophy, adult autosomal dominant, IIA" EXACT [] synonym: "HMN2" EXACT [] synonym: "HMN2A" EXACT [] synonym: "HMND2" EXACT [] synonym: "HMN II" EXACT [] synonym: "HMN IIA" EXACT [] xref: MESH:C563561 xref: ORDO:139525 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111207 name: autosomal dominant distal hereditary motor neuronopathy 3 alt_id: MIM:608634 def: "An autosomal dominant distal hereditary motor neuronopathy that has_material_basis_in heterozygous mutation in the gene encoding heat-shock 27-kD protein-1 (HSPB1) on chromosome 7q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18832141 "DO"] synonym: "DHMN2B" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type IIB" EXACT [] synonym: "distal hereditary motor neuronopathy type 2B" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type IIB" EXACT [] synonym: "distal hereditary motor neuropathy type 2B" EXACT [] synonym: "distal hereditary motor neuropathy, type IIB" EXACT [] synonym: "HMN2B" EXACT [] synonym: "HMND3" EXACT [] synonym: "HMN IIB" EXACT [] synonym: "HSPB1-related disorder" BROAD [] xref: MESH:C567084 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111209 name: autosomal dominant distal hereditary motor neuronopathy 4 def: "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the HSPB3 gene on 5q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20142617 "DO"] synonym: "DHMN2C" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type IIC" EXACT [] synonym: "distal hereditary motor neuronopathy type 2C" EXACT [] synonym: "distal hereditary motor neuronopathy, type IIC" EXACT [] synonym: "distal hereditary motor neuropathy, autosomal dominant 4" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type IIC" EXACT [] synonym: "distal hereditary motor neuropathy, type IIC" EXACT [] synonym: "HMN2C" EXACT [] synonym: "HMND4" EXACT [] synonym: "HMN IIC" EXACT [] xref: MIM:613376 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111210 name: autosomal dominant distal hereditary motor neuronopathy 6 def: "A distal hereditary motor neuropathy that has_material_basis_in heterozygous mutation in the FBXO38 gene on 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24207122 "DO"] synonym: "DHMN2D" EXACT [] synonym: "DISTAL HEREDITARY MOTOR NEURONOPATHY 2D" EXACT [] synonym: "distal hereditary motor neuronopathy, Harding type IID" EXACT [] synonym: "distal hereditary motor neuronopathy type 2D" EXACT [] synonym: "distal hereditary motor neuropathy, Harding type IID" EXACT [] synonym: "distal hereditary motor neuropathy type IID" EXACT [] synonym: "distal spinal muscular atrophy, autosomal dominant, calf-predominant" EXACT [] synonym: "distal spinal muscular atrophy with calf predominance" EXACT [] synonym: "FBXO38-RELATED CONDITION" EXACT [] synonym: "HMN2D" EXACT [] synonym: "HMND6" EXACT [] synonym: "HMN IID" EXACT [] xref: MIM:615575 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111211 name: autosomal recessive distal hereditary motor neuronopathy 3 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by juvenile onset of distal muscle weakness and wasting with variable severity that has_material_basis_in homozygous mutation in a 2.6-cM region of chromosome 11q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15054395 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy 3" EXACT [] synonym: "autosomal recessive distal spinal muscular atrophy type 3" EXACT [] synonym: "DHMN3" EXACT [] synonym: "dHMN3 and dHMN4" EXACT [] synonym: "DHMN4" EXACT [] synonym: "distal hereditary motor neuropathy type 3" EXACT [] synonym: "distal hereditary motor neuropathy type 3 and type 4" EXACT [] synonym: "distal hereditary motor neuropathy type 4" EXACT [] synonym: "distal hereditary motor neuropathy, type IV" EXACT [] synonym: "distal spinal muscular atrophy type 3" EXACT [] synonym: "DSMA3" EXACT [] synonym: "HMN3" EXACT [] synonym: "HMN4" EXACT [] synonym: "HMN III" EXACT [] synonym: "HMN IV" EXACT [] synonym: "HMNR3" EXACT [] synonym: "Neuronopathy, Distal Hereditary Motor, Harding Type III" EXACT [] synonym: "Neuronopathy, Distal Hereditary Motor, Harding Type IV" EXACT [] synonym: "Neuronopathy, Distal Hereditary Motor, Type III" EXACT [] synonym: "Neuronopathy, Distal Hereditary Motor, Type IV" EXACT [] xref: MESH:C564626 xref: MIM:607088 xref: MONDO:0011771 xref: ORDO:139547 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111212 name: autosomal dominant distal hereditary motor neuronopathy 9 def: "An autosomal domiant distal hereditary motor neuronopathy that is characterized by juvenile onset of slowly progressive distal muscle weakness and atrophy affecting both the lower and upper limbs that has_material_basis_in heterozygous mutation in the WARS gene on 14q32.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28369220 "DO"] synonym: "DHMN9" EXACT [] synonym: "distal hereditary motor neuronopathy type 9" EXACT [] synonym: "distal hereditary motor neuronopathy type IX" EXACT [] synonym: "distal hereditary motor neuropathy type IX" EXACT [] synonym: "HMN9" EXACT [] synonym: "HMND9" EXACT [] xref: MIM:617721 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111213 name: autosomal recessive distal hereditary motor neuronopathy 4 alt_id: MIM:611067 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by onset in early childhood of rapidly progressing proximal muscle weakness with an early involvement of foot and hand muscles that has_material_basis_in homozygous or compound heterozygous mutation in PLEKHG5 on 1p36.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16728649 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17564964 "DO"] synonym: "autosomal recessive distal spinal muscular atrophy 4" EXACT [] synonym: "autosomal recessive distal spinal muscular atrophy type 4" EXACT [] synonym: "autosomal recessive lower motor neuron disease with childhood onset" EXACT [] synonym: "distal hereditary motor neuropathy, autosomal recessive 4" EXACT [] synonym: "distal spinal muscular atrophy type 4" EXACT [] synonym: "DSMA4" EXACT [] synonym: "GENETIC MOTOR NEURON DISEASE" BROAD [] synonym: "HMNR4" EXACT [] synonym: "PLEKHG5-RELATED CONDITION" BROAD [] xref: MESH:C567023 xref: ORDO:206580 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111214 name: autosomal recessive distal hereditary motor neuronopathy 5 def: "An autosomal recessive distal hereditary motor neuronopathy characterized by young adult onset of slowly progressive distal muscle weakness and atrophy resulting in gait impairment and loss of reflexes that has_material_basis_in homozygous or compound heterozygous mutation in DNAJB2 on 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22522442 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25274842 "DO"] synonym: "autosomal recessive distal hereditary motor neuropathy 5" EXACT [] synonym: "autosomal recessive distal spinal muscular atrophy 5" EXACT [] synonym: "autosomal recessive distal spinal muscular atrophy type 5" EXACT [] synonym: "distal spinal muscular atrophy type 5" EXACT [] synonym: "DSMA5" EXACT [] synonym: "HMNR5" EXACT [] synonym: "young adult-onset dHMN" EXACT [] synonym: "young adult-onset distal hereditary motor neuropathy" EXACT [] xref: MIM:614881 xref: ORDO:314485 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy [Term] id: DOID:0111215 name: autosomal dominant distal hereditary motor neuronopathy 8 alt_id: MIM:600175 def: "An autosomal dominant distal hereditary motor neuronopathy that is characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy with variable severity that has_material_basis_in heterozygous mutation in the TRPV4 gene on 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20037588 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21336783 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4056805 "DO"] synonym: "autosomal dominant benign distal spinal muscular atrophy" EXACT [] synonym: "autosomal dominant congenital benign spinal muscular atrophy" EXACT [] synonym: "congenital benign spinal muscular atrophy with contractures" EXACT [] synonym: "congenital nonprogressive distal spinal muscular atrophy" EXACT [] synonym: "congenital nonprogressive spinal muscular atrophy" EXACT [] synonym: "DHMN8" EXACT [] synonym: "distal hereditary motor neuronopathy type 8" EXACT [] synonym: "distal hereditary motor neuronopathy, type VIII" EXACT [] synonym: "distal hereditary motor neuropathy, type VIII" EXACT [] synonym: "HMN8" EXACT [] synonym: "HMND8" EXACT [] xref: MESH:C563981 is_a: DOID:0111198 ! autosomal dominant distal hereditary motor neuronopathy [Term] id: DOID:0111216 name: autosomal recessive centronuclear myopathy def: "A centronuclear myopathy that has_material_basis_in autosomal recessive inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30103348 "DO"] synonym: "AR-CNM" EXACT [] synonym: "centronuclear myopathy, recessive" EXACT [] synonym: "myotubular myopathy, autosomal recessive" EXACT [] xref: GARD:12718 xref: MESH:C562934 xref: MONDO:0015705 xref: OMIA:001660 xref: ORDO:169186 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14717 ! centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111217 name: autosomal dominant centronuclear myopathy def: "A centronuclear myopathy that has_material_basis_in autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30103348 "DO"] synonym: "AD-CNM" EXACT [] synonym: "MYOPATHY, CENTRONUCLEAR, AUTOSOMAL DOMINANT, MODIFIER OF" RELATED [] xref: GARD:12719 xref: ICD10CM:G71.228 xref: ORDO:169189 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14717 ! centronuclear myopathy [Term] id: DOID:0111218 name: Friedreich ataxia 1 alt_id: MIM:229300 def: "A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10500204 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10543403 "DO"] synonym: "FA1" EXACT [] synonym: "FARR" NARROW [] synonym: "FRDA" EXACT [] synonym: "FRDA1" EXACT [] synonym: "Friedreich ataxia with retained reflexes" NARROW [] synonym: "FXN-related disorder" EXACT [] xref: MESH:C565561 is_a: DOID:12705 ! Friedreich ataxia [Term] id: DOID:0111219 name: Friedreich ataxia 2 alt_id: MIM:601992 def: "A Friedreich ataxia that has_material_basis_in mutation in the 9p23-p11 chromosome region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11523563 "DO"] synonym: "FRDA2" EXACT [] xref: MESH:C566594 is_a: DOID:12705 ! Friedreich ataxia [Term] id: DOID:0111220 name: centronuclear myopathy 2 def: "An autosomal recessive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in BIN1 on 2q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17676042 "DO"] synonym: "autosomal recessive centronuclear myopathy 2" EXACT [] synonym: "CNM2" EXACT [] xref: MIM:255200 is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111221 name: centronuclear myopathy 6 with fiber-type disproportion def: "An autosomal recessive centronuclear myopathy that is characterized by onset in infancy or early childhood of slowly progressive centronuclear myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ZAK gene on 2q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27816943 "DO"] synonym: "CNM6" EXACT [] xref: MIM:617760 is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy [Term] id: DOID:0111222 name: centronuclear myopathy 5 def: "An autosomal recessive centronuclear myopathy characterized by severe neonatal hypotonia, respiratory insufficiency, and difficulty feeding that has_material_basis_in homozygous or compound heterozygous mutation in SPEG on 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25087613 "DO"] synonym: "CNM5" EXACT [] synonym: "SPEG-RELATED CONDITION" EXACT [] synonym: "SPEG-RELATED CONGENITAL MYOPATHY" EXACT [] xref: MIM:615959 xref: MONDO:0014418 is_a: DOID:0111216 ! autosomal recessive centronuclear myopathy [Term] id: DOID:0111223 name: centronuclear myopathy 1 def: "An autosomal dominant centronuclear myopathy characterized by slowly progressive muscle wasting and weakness involving mainly the limb girdle, trunk, and neck muscles that has_material_basis_in heterozygous mutation in DNM2 on 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16227997 "DO"] synonym: "centronuclear myopathy 3" RELATED [] synonym: "centronuclear myopathy, dominant" EXACT [] synonym: "CNM1" EXACT [] synonym: "CNM3" RELATED [] xref: MIM:160150 xref: NCI:C126689 is_a: DOID:0111217 ! autosomal dominant centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111224 name: centronuclear myopathy 4 def: "An autosomal dominant centronuclear myopathy that has_material_basis_in heterozygous mutation in CCDC78 on 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22818856 "DO"] synonym: "CNM4" EXACT [] xref: MIM:614807 is_a: DOID:0111217 ! autosomal dominant centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111225 name: centronuclear myopathy X-linked alt_id: OMIA:001508 def: "A centronuclear myopathy that has_material_basis_in X-linked inheritance of mutations in MTM1 on Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8640223 "DO"] synonym: "CNMX" EXACT [] synonym: "MTMX" EXACT [] synonym: "SEVERE X-LINKED MYOTUBULAR MYOPATHY" NARROW [] synonym: "XLCNM" EXACT [] synonym: "X-linked myotubular myopathies" EXACT [] synonym: "X-linked myotubular myopathy" EXACT [] synonym: "XLMTM" EXACT [] xref: GARD:11925 xref: ICD10CM:G71.220 xref: MIM:310400 xref: NCI:C118781 is_a: DOID:14717 ! centronuclear myopathy is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111226 name: X-linked congenital myopathy with fiber-type disproportion alt_id: MIM:300580 def: "A congenital fiber-type disproportion characterized by bilateral ptosis, facial weakness, impaired suckling, generalized hypotonia, and respiratory insufficiency that has_material_basis_in mutation in the chromosome region Xq13.1-q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16173074 "DO"] synonym: "CFTDX" EXACT [] xref: MESH:C567594 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080102 ! congenital myopathy 4A is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:0111227 name: frontotemporal dementia and/or amyotrophic lateral sclerosis 7 alt_id: DOID:0060208 def: "A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2. (DO)" [https://medlineplus.gov/genetics/condition/chmp2b-related-frontotemporal-dementia/#resources "DO", https://www.ncbi.nlm.nih.gov/books/NBK1199/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/16041373 "DO"] synonym: "ALS17" EXACT [] synonym: "ALS17 (FORMERLY)" EXACT [] synonym: "amyotrophic lateral sclerosis 17" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY)" EXACT [] synonym: "amyotrophic lateral sclerosis type 17" EXACT [] synonym: "CHMP2B-RELATED" EXACT [] synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT [] synonym: "CHMP2B-related condition" BROAD [] synonym: "CHMP2B-related frontotemporal dementia" EXACT [] synonym: "chromosome 3-linked frontotemporal dementia" EXACT [] synonym: "DEM" EXACT [] synonym: "DMT1" EXACT [] synonym: "DTM1" EXACT [] synonym: "familial nonspecific dementia" EXACT [] synonym: "FTD-3" EXACT [] synonym: "FTD3" EXACT [] synonym: "FTDALS7" EXACT [] synonym: "FTD-CHMP2B" EXACT [] xref: MESH:C563708 xref: MESH:C579991 xref: MIM:600795 xref: MIM:614696 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis [Term] id: DOID:0111228 name: Sveinsson chorioretinal atrophy def: "An eye disease characterized by presence in the fundus of progressive bilateral retinal and choroidal atrophy leading to central vision loss that has_material_basis_in heterozygous mutation in TEAD1 on 11p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15016762 "DO", https://www.ncbi.nlm.nih.gov/pubmed/419979 "DO"] synonym: "AA" EXACT [] synonym: "atrophia areata" EXACT [] synonym: "helicoidal peripapillary chorioretinal degeneration" EXACT [] synonym: "helicoid peripapillary chorioretinal degeneration" EXACT [] synonym: "HPCD" EXACT [] synonym: "peripapillary chorioretinal degeneration, Icelandic type" EXACT [] synonym: "SCRA" EXACT [] synonym: "Sveinsson choreoretinal atrophy" RELATED [] xref: MESH:C566236 xref: MIM:108985 xref: MONDO:0007176 xref: ORDO:86813 is_a: DOID:2566 ! corneal dystrophy is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:0111229 name: congenital muscular dystrophy-dystroglycanopathy type A def: "A congenital muscular dystrophy-dystroglycanopathy characterized by cobblestone lissencephaly, muscle weakness, and brain and eye anomalies that has_material_basis_in autosomal recessive inheritance a defect in alpha-dystroglycan post-translational processing. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23453667 "DO"] synonym: "congenital muscular alpha-dystroglycanopathy with brain and eye anomalies" EXACT [] synonym: "klissencephaly type 2 with muscular and ocular involvement" EXACT [] synonym: "MDDGA" EXACT [] xref: MIM:PS236670 xref: ORDO:352687 is_a: DOID:0050560 ! Walker-Warburg syndrome is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy [Term] id: DOID:0111230 name: congenital muscular dystrophy-dystroglycanopathy type A11 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B3GALNT2 on 1q42.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23453667 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A11" EXACT [] synonym: "MDDGA11" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease B3GALNT2-related" EXACT [] xref: MIM:615181 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111231 name: congenital muscular dystrophy-dystroglycanopathy type A8 alt_id: RDO:9000583 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT2 on 3p22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22958903 "DO"] synonym: "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A8" EXACT [] synonym: "MDDGA8" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 8" EXACT [] synonym: "WALKER-WARBURG SYNDROME, GTDC2-RELATED" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease GTDC2-related" EXACT [] xref: MIM:614830 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111232 name: congenital muscular dystrophy-dystroglycanopathy type A9 alt_id: RDO:9001467 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in DAG1 on 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24052401 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A9" EXACT [] synonym: "MDDGA9" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), type A, 9" EXACT [] synonym: "WALKER-WARBURG SYNDROME OR MUSCLE-EYE BRAIN DISEASE, DAG1-RELATED" EXACT [] xref: MIM:616538 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111233 name: congenital muscular dystrophy-dystroglycanopathy A14 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in in GMPPB on 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23768512 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A14" EXACT [] synonym: "MDDGA14" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), Type A, 14" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, GMPPB-related" EXACT [] xref: MIM:615350 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111234 name: congenital muscular dystrophy-dystroglycanopathy A7 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in ISPD on 7p21.2-p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22522420 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A7" EXACT [] synonym: "ISPD-related disorder" BROAD [] synonym: "MDDGA7" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-related" EXACT [] xref: MIM:614643 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111235 name: congenital muscular dystrophy-dystroglycanopathy type A12 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23519211 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12" EXACT [] synonym: "MDDGA12" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12" EXACT [] synonym: "WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMK-RELATED" EXACT [] xref: MIM:615249 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111236 name: congenital muscular dystrophy-dystroglycanopathy type A3 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMGNT1 on 1p34.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11709191 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A3" EXACT [] synonym: "MDDGA3" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMGNT1-related" EXACT [] xref: MIM:253280 xref: MONDO:0009667 xref: NCI:C126740 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111237 name: congenital muscular dystrophy-dystroglycanopathy type A1 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT1 on 9q34.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12369018 "DO"] synonym: "cerebroocular dysplasia-muscular dystrophy syndrome" EXACT [] synonym: "COD MD syndrome" EXACT [] synonym: "COD-MD syndromes" EXACT [] synonym: "congenital muscular dystrophy dystroglycanopathy with brain and eye anomalies, type A1" EXACT [] synonym: "HARD syndrome" EXACT [] synonym: "HARD syndromes" EXACT [] synonym: "hydrocephalus, agyria, and retinal dysplasia" EXACT [] synonym: "MDDGA1" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMT1-related" EXACT [] xref: MIM:236670 xref: NCI:C128118 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111238 name: congenital muscular dystrophy-dystroglycanopathy type A13 alt_id: RDO:9000895 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in B4GAT1 on 11q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23359570 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A13" EXACT [] synonym: "MDDGA13" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 13" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3GNT1-related" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B4GAT1-related" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B4GNT1-related" EXACT [] xref: MIM:615287 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111239 name: congenital muscular dystrophy-dystroglycanopathy type A10 alt_id: RDO:9000580 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in RXYLT1 on 12q14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23217329 "DO"] synonym: "Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A10" EXACT [] synonym: "MDDGA10" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with brain and eye anomalies), Type A, 10" EXACT [] xref: MIM:615041 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111240 name: congenital muscular dystrophy-dystroglycanopathy type A2 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15894594 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A2" EXACT [] synonym: "MDDGA2" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related" EXACT [] xref: MIM:613150 xref: NCI:C126742 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111241 name: congenital muscular dystrophy-dystroglycanopathy type A5 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in FKRP on 19q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15121789 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A5" EXACT [] synonym: "MDDGA5" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, FKRP-related" EXACT [] xref: MIM:613153 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111242 name: congenital muscular dystrophy-dystroglycanopathy type A6 def: "A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in LARGE on 22q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17436019 "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A6" EXACT [] synonym: "MDDGA6" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6" EXACT [] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, LARGE-related" EXACT [] xref: MIM:613154 xref: NCI:C126743 is_a: DOID:0111229 ! congenital muscular dystrophy-dystroglycanopathy type A [Term] id: DOID:0111243 name: acromicric dysplasia alt_id: MIM:102370 def: "An osteochondrodysplasia characterized by autosomal dominant inheritance of severe short stature, short hands and feet, joint limitations, mild facial anomalies, skin thickening, and bone abnormalities including delayed bone age, cone-shaped epiphyses, shortened long tubular bones, and ovoid vertebral bodies that has_material_basis_in heterozygous mutation in FBN1 on 15q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21683322 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3728563 "DO"] synonym: "ACMICD" EXACT [] synonym: "acromicric skeletal dysplasia" EXACT [] synonym: "geleophysic dwarfism" EXACT [] xref: GARD:7 xref: MESH:C535662 xref: ORDO:969 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0111244 name: palmoplantar keratoderma and congenital alopecia 1 def: "An ectodermal dysplasia characterized by autosomal dominant inheritance of severe hyperkeratosis, congenital alopecia, and in some patients nail anomalies that has_material_basis_in heterozygous mutation in GJA1 on 6q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20635335 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25168385 "DO"] synonym: "autosomal dominant palmoplantar hyperkeratosis and congenital alopecia" EXACT [] synonym: "autosomal dominant palmoplantar keratoderma and congenital alopecia" EXACT [] synonym: "keratoderma-hypotrichosis-leukonychia totalis syndrome" EXACT [] synonym: "palmoplantar keratoderma and congenital alopecia, Stevanovic type" EXACT [] synonym: "PPKCA1" EXACT [] synonym: "PPK-CA, Stevanovic type" EXACT [] synonym: "PPKCA, Stevanovic type" EXACT [] xref: GARD:604 xref: MIM:104100 xref: ORDO:1010 is_a: DOID:0080015 ! physical disorder is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9007076 ! Alopecia Congenita Keratosis Palmoplantaris [Term] id: DOID:0111245 name: palmoplantar keratoderma and congenital alopecia 2 alt_id: MIM:212360 def: "An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20635335 "DO"] synonym: "autosomal recessive palmoplantar hyperkeratosis and congenital alopecia" EXACT [] synonym: "autosomal recessive palmoplantar keratoderma and congenital alopecia" EXACT [] synonym: "CASS" EXACT [] synonym: "cataract, alopecia, sclerodactyly" EXACT [] synonym: "cataract-alopecia-sclerodactyly syndrome" EXACT [] synonym: "palmoplantar keratoderma and congenital alopecia, Wallis type" EXACT [] synonym: "PPKCA2" EXACT [] synonym: "PPK-CA, Wallis type" EXACT [] synonym: "PPKCA Wallis type" EXACT [] xref: MESH:C535336 xref: ORDO:1366 is_a: DOID:0080015 ! physical disorder is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:83 ! cataract is_a: DOID:8472 ! localized scleroderma is_a: DOID:987 ! alopecia [Term] id: DOID:0111246 name: amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 def: "A neurodegenerative disease characterized by chronic, progressive amyotrophic lateral sclerosis and parkinsonism-dementia. Susceptibility to this disease is influenced by heterozygous mutation in TRPM7 on 15q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16051700 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5770171 "DO"] synonym: "ALS-PDC" EXACT [] synonym: "amyotrophic lateral sclerosis, Guam form" EXACT [] synonym: "amyotrophic lateral sclerosis, parkinsonism, dementia complex of Guam" EXACT [] synonym: "Amyotrophic lateral sclerosis-parkinsonism-dementia of Guam syndrome" EXACT [] synonym: "Guam disease" EXACT [] synonym: "Guam form of amyotrophic lateral sclerosis" EXACT [] synonym: "Guam PD" EXACT [] synonym: "Lytico-Bodig disease" EXACT [] synonym: "parkinsonism-dementia-ALS complex" EXACT [] synonym: "parkinsonism-dementia of Guam" EXACT [] synonym: "PDALS" EXACT [] xref: GARD:9239 xref: MIM:105500 xref: ORDO:90020 is_a: DOID:1307 ! dementia is_a: DOID:14330 ! Parkinson's disease is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:0111247 name: hypertension and brachydactyly syndrome alt_id: MIM:112410 def: "A syndrome characterized by brachydactyly type E, severe salt-independent but age-dependent hypertension, an increased fibroblast growth rate, neurovascular contact at the rostral-ventrolateral medulla, altered baroreflex blood pressure regulation, and increased risk of stroke when untreated that has_material_basis_in heterozygous mutation in PDE3A on 12p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25961942 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4774535 "DO"] synonym: "Bilginturan brachydactyly" EXACT [] synonym: "Bilginturan syndrome" EXACT [] synonym: "brachydactyly type E with short stature and hypertension" EXACT [] synonym: "brachydactyly with hypertension" EXACT [] synonym: "HTNB" EXACT [] xref: GARD:967 xref: MESH:C537095 xref: ORDO:1276 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10763 ! hypertension is_a: DOID:225 ! syndrome [Term] id: DOID:0111248 name: cerebrocostomandibular syndrome alt_id: MIM:117650 def: "A syndrome characterized by severe micrognathia, posterior rib and palate defects, and often intellectual disability that has_material_basis_in heterozygous mutation in SNRPB on 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19008299 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25047197 "DO"] synonym: "CCMS" EXACT [] synonym: "CCM syndrome" EXACT [] synonym: "cerebrocostomandibular-like syndrome" EXACT [] synonym: "cerebro-costo-mandibular syndrome" EXACT [] synonym: "rib gap defects with micrognathia" EXACT [] xref: GARD:6026 xref: MESH:C562538 xref: ORDO:1393 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:0111249 name: uveal coloboma-cleft lip and palate-intellectual disability alt_id: MESH:C535971 alt_id: MIM:120433 def: "A syndrome characterized by uveal coloboma and variable degrees of orofacial clefting, intellectual disability, and hearing impairment that has_material_basis_in heterozygous mutation in YAP1 on 11q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24462371 "DO"] synonym: "COB1" EXACT [] synonym: "coloboma, cleft lip/palate and mental retardation syndrome" EXACT [] synonym: "coloboma-microphthalmos syndrome" EXACT [] synonym: "coloboma-microphthalmos syndrome associated with sensorineural hearing loss, hematuria, and cleft lip/palate" EXACT [] synonym: "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or impaired intellectual development" EXACT [] synonym: "ocular coloboma with or without hearing impairment, cleft lip/palate, and/or mental retardation" EXACT [] synonym: "uveal coloboma-cleft lip/palate-mental retardation syndrome" EXACT [] synonym: "uveal coloboma, with cleft lip and palate and mental retardation" EXACT [] synonym: "YAP1-RELATED CONDITION" EXACT [] xref: GARD:1440 xref: MESH:C565173 xref: ORDO:1473 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9296 ! cleft lip [Term] id: DOID:0111250 name: Parkinson's disease 3 alt_id: MESH:C566552 alt_id: MIM:602404 def: "A late onset Parkinson's disease characterized by mean age of onset of 59 years and that has_material_basis_in mutation in a locus in the 2p13 chromosome region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14663042 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9500549 "DO"] synonym: "PARK3" EXACT [] synonym: "Parkinson's disease 3, autosomal dominant" EXACT [] synonym: "Parkinson's disease 3, autosomal dominant Lewy body" EXACT [] synonym: "Parkinson disease 3" EXACT [] synonym: "Parkinson disease 3, autosomal dominant" EXACT [] synonym: "Parkinson disease 3, autosomal dominant Lewy body" EXACT [] xref: MESH:C537176 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0111251 name: Parkinson's disease 21 def: "A late onset Parkinson's disease characterized by autosomal dominant inheritance and mean age of onset at 67 years. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24218364 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27270108 "DO"] synonym: "PARK21" EXACT [] synonym: "Parkinson disease 21" EXACT [] synonym: "Parkinson disease type 21" EXACT [] xref: MIM:616361 xref: MONDO:0014604 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060892 ! late onset Parkinson's disease [Term] id: DOID:0111252 name: vestibular schwannomatosis alt_id: MIM:101000 def: "A schwannomatosis characterized by bilateral vestibular schwannomas or a combination of unilateral vestibular schwannomas, non-vestibular schwannomas, meningiomas, ependymomas, and specific eye abnormalities that has_material_basis_in heterozygous mutation in the NF2 gene on chromosome 22q12.2. Eye abnormalities include juvenile subcapsular or cortical cataract, epiretinal membrane in a person less than 40 years old, and retinal hamartoma. This disease has been revised by international consensus. It was previously referred to as neurofibromatosis 2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO"] synonym: "ACN" EXACT [] synonym: "acoustic neurofibromatosis" EXACT [] synonym: "BANF" EXACT [] synonym: "Bilateral Acoustic Neurinoma" EXACT [] synonym: "bilateral acoustic neurinomas" EXACT [] synonym: "bilateral acoustic neurofibromatoses" EXACT [] synonym: "Bilateral Acoustic Neurofibromatosis" EXACT [] synonym: "bilateral acoustic neuroma" EXACT [] synonym: "Bilateral Acoustic Schwannoma" EXACT [] synonym: "bilateral acoustic schwannomas" EXACT [] synonym: "BILATERAL VESTIBULAR SCHWANNOMA" EXACT [] synonym: "central neurofibromatoses" EXACT [] synonym: "Central Neurofibromatosis" EXACT [] synonym: "Central NF2 Neurofibromatoses" EXACT [] synonym: "Central NF2 Neurofibromatosis" EXACT [] synonym: "Familial Acoustic Neuroma" EXACT [] synonym: "Familial Acoustic Neuromas" EXACT [] synonym: "neurofibromatosis 2" EXACT [] synonym: "Neurofibromatosis, Central, NF 2" EXACT [] synonym: "Neurofibromatosis, central type" EXACT [] synonym: "Neurofibromatosis II" EXACT [] synonym: "Neurofibromatosis Type 2" EXACT [] synonym: "neurofibromatosis type II" EXACT [] synonym: "NF2" EXACT [] synonym: "NF2 (neurofibromatosis 2)" EXACT [] synonym: "NF2-related schwannomatosis" EXACT [] synonym: "schwannomatosis 3" EXACT [] synonym: "SWN3" EXACT [] synonym: "SWNV" EXACT [] synonym: "type 2 neurofibromatoses" EXACT [] synonym: "type II neurofibromatoses" EXACT [] xref: EFO:0004122 xref: GARD:7193 xref: ICD10CM:Q85.02 xref: ICD9CM:237.72 xref: MESH:D016518 xref: MONDO:0007039 xref: NCI:C3274 xref: ORDO:637 is_a: DOID:12689 ! acoustic neuroma is_a: DOID:3204 ! schwannomatosis [Term] id: DOID:0111253 name: neurofibromatosis 1 alt_id: MIM:162200 def: "A neurofibromatosis characterized by multiple cafe-au-lait macules, skin fold freckling, neurofibromas, optic gliomas, Lisch nodules or choroidal abnormalities in the eye, or a specific bone abnormality that has_material_basis_in the NF1 gene on chromosome 17q11.2. Bone abnormalities include a distinctive osseous lesion such as sphenoid dysplasia, anterolateral bowing of the tibia, or pseudarthrosis of a long bone. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34012067/ "DO", https://pubmed.ncbi.nlm.nih.gov/35698197/ "DO"] synonym: "molluscum fibrosum" EXACT [] synonym: "neurofibromatoses type I" EXACT [] synonym: "neurofibromatosis I" EXACT [] synonym: "neurofibromatosis type 1" EXACT [] synonym: "neurofibromatosis type I" EXACT [] synonym: "NF1" EXACT [] synonym: "NF1 (neurofibromatosis 1)" EXACT [] synonym: "peripheral neurofibromatoses" EXACT [] synonym: "peripheral neurofibromatosis" EXACT [] synonym: "peripheral neurofibromatosis, NF 1" EXACT [] synonym: "peripheral neurofibromatosis, NF1" EXACT [] synonym: "peripheral type neurofibromatosis" EXACT [] synonym: "Recklinghausen's disease of nerve" EXACT [] synonym: "Recklinghausen's neurofibromatosis" EXACT [] synonym: "Recklinghausen disease, nerve" EXACT [] synonym: "Recklinghausen disease of nerve" EXACT [] synonym: "Recklinghausens disease of nerve" EXACT [] synonym: "von Recklinghausen's disease" EXACT [] synonym: "von Recklinghausen disease" EXACT [] synonym: "von Recklinghausens disease" EXACT [] xref: ICD10CM:Q85.01 xref: ICD9CM:237.71 xref: MESH:D009456 xref: NCI:C3273 xref: ORDO:636 is_a: DOID:8712 ! neurofibromatosis [Term] id: DOID:0111254 name: glutaric acidemia I alt_id: MIM:231670 def: "An organic acidemia characterized by impaired lysine, hydroxylysine, and tryptophan metabolism, increased urinary excretion of glutaric acid, and accumulation of 3-hydroxyglutaric and glutaric acid, resulting in striatal injury and a severe dystonic dyskinetic movement disorder that has_material_basis_in homozygous or compound heterozygous mutation in the GCDH gene on chromosome 19p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16602100 "DO"] synonym: "GA1" EXACT [] synonym: "GA I" EXACT [] synonym: "glutaric academia type 1" EXACT [] synonym: "glutaric acidemia 1" EXACT [] synonym: "Glutaric Acidemia Type 1" EXACT [] synonym: "Glutaric Acidemia Type I" EXACT [] synonym: "glutaric aciduria 1" EXACT [] synonym: "Glutaric Aciduria I" EXACT [] synonym: "glutaric aciduria type 1" EXACT [] synonym: "glutaric aciduria type I" EXACT [] synonym: "glutaryl-CoA dehydrogenase deficiency" EXACT [] synonym: "glutaryl-coenzyme A dehydrogenase deficiency" EXACT [] xref: GARD:6522 xref: MESH:C536833 xref: NCI:C99101 xref: ORDO:25 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060159 ! organic acidemia is_a: DOID:9005627 ! Metabolic Brain Diseases is_a: DOID:9009132 ! Glutaric Aciduria [Term] id: DOID:0111255 name: McKusick-Kaufman syndrome alt_id: MIM:236700 def: "A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10802661 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21044901 "DO"] synonym: "HMCS" EXACT [] synonym: "hydrometrocolpos, postaxial polydactyly, and congenital heart malformation" EXACT [] synonym: "hydrometrocolpos-postaxial polydactyly syndrome" EXACT [] synonym: "hydrometrocolpos syndrome" EXACT [] synonym: "MKKS" EXACT [] synonym: "MKKS-RELATED CONDITION" BROAD [] xref: GARD:3427 xref: MESH:C538159 xref: ORDO:2473 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1148 ! polydactyly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:345 ! uterine disease is_a: DOID:9005371 ! Hydrocolpos is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111256 name: hyperferritinemia-cataract syndrome alt_id: MIM:600886 def: "A syndrome characterized by elevated circulating levels of ferritin without iron overload and early onset cataracts that has_material_basis_in heterozygous mutation in the iron responsive element in the 5-prime noncoding region of FTL on 19q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7493028 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7669675 "DO"] synonym: "Bonneau-Beaumont syndrome" EXACT [] synonym: "dominant hyperferritinemia and cataract" EXACT [] synonym: "hereditary hyperferritinemia-cataract syndrome" EXACT [] synonym: "hereditary hyperferritinemia with congenital cataracts" EXACT [] synonym: "HHCS" EXACT [] synonym: "HRFTC" EXACT [] synonym: "hyperferritinemia with or without cataract" EXACT [] xref: GARD:2806 xref: MESH:C538137 xref: ORDO:163 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001887 ! Hyperferritinemia [Term] id: DOID:0111257 name: gamma-glutamyl transpeptidase deficiency alt_id: MIM:231950 def: "An amino acid metabolic disorder characterized by accumulation of glutathione in the plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in GGT1 on 22q11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29483667 "DO"] synonym: "gamma-glutamyl transferase deficiency" EXACT [] synonym: "gamma-glutamyltransferase deficiency" EXACT [] synonym: "Gamma-glutamyltranspeptidase deficiency" EXACT [] synonym: "GGT1 deficiency" EXACT [] synonym: "GGT DEFICIENCY" EXACT [] synonym: "Glutathionuria" EXACT [] synonym: "GTG deficiency" EXACT [] xref: GARD:10099 xref: MESH:C536836 xref: ORDO:33573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111258 name: pentosuria alt_id: DOID:9008597 def: "An amino acid metabolic disorder characterized by excretion of excess pentose L-xylulose (1-4 g/day) in the urine that has_material_basis_in homozygous or compound heterozygous mutation in DCXR on 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22042873 "DO"] synonym: "essential pentosuria" EXACT [] synonym: "L-Xylulose reductase deficiency" EXACT [] synonym: "L-Xylulosuria" EXACT [] synonym: "PNTSU" EXACT [] synonym: "xylitol dehydrogenase deficiency" EXACT [] xref: GARD:418 xref: ICD10CM:E74.89 xref: MESH:C536652 xref: MIM:260800 xref: MONDO:0009846 xref: ORDO:2843 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111259 name: postaxial acrofacial dysostosis alt_id: MIM:263750 def: "A syndrome characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, cup-shaped ears, and supernumerary nipples that has_material_basis_in homozygous or compound heterozygous mutation in DHODH on 16q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19915526 "DO", https://www.ncbi.nlm.nih.gov/pubmed/501501 "DO"] synonym: "acrofacial dysostosis, Genee-Wiedmann type" EXACT [] synonym: "Genee-Wiedemann acrofacial dysostosis" EXACT [] synonym: "Genee-Wiedemann syndrome" EXACT [] synonym: "mandibulfacial dysostosis with postaxial limb anomalies" EXACT [] synonym: "Miller syndrome" EXACT [] synonym: "POADS" EXACT [] synonym: "POADS syndrome" EXACT [] synonym: "postaxial acrodysostosis" EXACT [] synonym: "postaxial acrofacial dysostosis (POADS)" EXACT [] synonym: "postaxial acrofacial dysostosis (POADS) syndrome" EXACT [] synonym: "Wildervanck-Smith syndrome" EXACT [] xref: GARD:8410 xref: MESH:C537680 xref: ORDO:246 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9005616 ! Micrognathism is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0111260 name: phosphoribosylpyrophosphate synthetase superactivity alt_id: MIM:300661 def: "An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20301734 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8253776 "DO"] synonym: "gout, PRPS-related" EXACT [] synonym: "PRPP synthetase superactivity" EXACT [] synonym: "PRPS1 superactivity" EXACT [] xref: MESH:C567064 xref: ORDO:3222 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:0111261 name: fumarase deficiency alt_id: MIM:606812 def: "An amino acid metabolic disorder characterized by metabolic acidosis, elevated levels of fumaric acid in the urine, early-onset hypotonia, profound psychomotor retardation, and brain abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in FH on 1q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22069215 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8200987 "DO"] synonym: "FH-RELATED CONDITION" BROAD [] synonym: "FMRD" EXACT [] synonym: "fumarate hydratase deficiency" EXACT [] synonym: "fumaric aciduria" EXACT [] synonym: "fumaricaciduria" EXACT [] xref: GARD:6476 xref: MESH:C538191 xref: ORDO:24 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111262 name: infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly def: "A brain disease characterized by cerebral and cerebellar atrophy, postnatal progressive microcephaly and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in MED17 on 11q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20950787 "DO"] synonym: "postnatal progressive microcephaly, seizures, and brain atrophy" EXACT [] synonym: "postnatal progressive microcephaly with seizures and brain atrophy" EXACT [] xref: GARD:10995 xref: MIM:613668 xref: MONDO:0013351 xref: ORDO:402364 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:9004462 ! Atrophy is_a: DOID:936 ! brain disease [Term] id: DOID:0111263 name: combined malonic and methylmalonic acidemia alt_id: MIM:614265 def: "An organic acidemia characterized by elevated levels of methylmalonic acid and malonic acid in body fluids typically resulting in developmental delay and failure to thrive in children and neurological symptoms in adults that has_material_basis_in homozygous or compound heterozygous mutation in ACSF3 on 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21841779 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9700595 "DO"] synonym: "CMAMMA" EXACT [] synonym: "combined malonic and methylmalonic aciduria" EXACT [] xref: GARD:10818 xref: MESH:C580002 xref: ORDO:289504 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060159 ! organic acidemia [Term] id: DOID:0111264 name: Ruijs-Aalfs syndrome def: "A syndrome characterized by genomic instability and susceptibility toward early onset hepatocellular carcinoma that has_material_basis_in homozygous or compound heterozygous mutation in SPRTN on 1q42.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25261934 "DO"] synonym: "progeroid features-hepatocellular carcinoma predisposition syndrome" EXACT [] synonym: "RJALS" EXACT [] xref: MIM:616200 xref: ORDO:435953 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:3911 ! progeria is_a: DOID:684 ! hepatocellular carcinoma is_a: DOID:9002981 ! Genomic Instability is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0111265 name: Boucher-Neuhauser syndrome alt_id: MIM:215470 def: "A syndrome characterized by spinocerebellar ataxia, hypogonadotropic hypogonadism, and chorioretinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24355708 "DO"] synonym: "ataxia-hypogonadism-choroidal dystrophy syndrome" EXACT [] synonym: "BNHS" EXACT [] synonym: "chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism" EXACT [] xref: GARD:944 xref: MESH:C565850 xref: ORDO:1180 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111266 name: geroderma osteodysplasticum alt_id: MIM:231070 def: "A syndrome characterized by lax and wrinkled skin, progeroid features, hip dislocation, joint laxity, severe short stature/dwarfism, severe osteoporosis, vertebral abnormalities and spontaneous fractures, and developmental delay and mild intellectual deficit that has_material_basis_in homozygous or compound heterozygous mutation in GORAB on 1q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18997784 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26000619 "DO"] synonym: "geroderma osteodysplastica" EXACT [] synonym: "geroderma osteodysplastica hereditaria" EXACT [] synonym: "gerodermia osteodysplastica" EXACT [] synonym: "GO" EXACT [] synonym: "Walt Disney dwarfism" EXACT [] xref: GARD:413 xref: MESH:C537799 xref: ORDO:2078 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080001 ! bone disease is_a: DOID:225 ! syndrome is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111267 name: hyaline body myopathy def: "A congenital myopathy characterized by accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers and a variable development of muscle weakness that has_material_basis_in mutation in MYH7 on 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22918376 "DO"] synonym: "myosin storage myopathy" EXACT [] xref: GARD:7148 xref: ORDO:53698 is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:0111268 name: autosomal recessive hyaline body myopathy def: "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17372140 "DO"] synonym: "autosomal recessive myosin storage myopathy" EXACT [] synonym: "CMYO7B" EXACT [] synonym: "CMYP7B" EXACT [] synonym: "congenital myopathy 7B" EXACT [] synonym: "congenital myopathy 7B, myosin storage, autosomal recessive" EXACT [] synonym: "MSMB" EXACT [] xref: MESH:C564970 xref: MIM:255160 xref: MONDO:0009708 xref: ORDO:636970 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111267 ! hyaline body myopathy [Term] id: DOID:0111269 name: autosomal dominant hyaline body myopathy alt_id: DOID:9001810 def: "A hyaline body myopathy that has_material_basis_in heterozygous mutation in MYH7 on 14q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16684601 "DO"] synonym: "CMYO7A" EXACT [] synonym: "CMYP7A" EXACT [] synonym: "congenital myopathy 7A" EXACT [] synonym: "congenital myopathy 7A, myosin storage, autosomal dominant" EXACT [] synonym: "MSMA" EXACT [] synonym: "myopathy with lysis of type I myofibrils" EXACT [] synonym: "myosin storage myopathy, autosomal dominant" EXACT [] synonym: "scapuloperoneal muscular dystrophy" EXACT [] synonym: "scapuloperoneal myopathy, MYH7-related" EXACT [] synonym: "scapuloperoneal syndrome, myopathic type" EXACT [] synonym: "SPMD" EXACT [] synonym: "SPMM" EXACT [] xref: MESH:C564253 xref: MIM:608358 xref: MONDO:0008409 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060253 ! scapuloperoneal myopathy is_a: DOID:0111267 ! hyaline body myopathy [Term] id: DOID:0111270 name: isolated sulfite oxidase deficiency alt_id: MIM:272300 def: "An inherited metabolic disorder characterized by increased sulfite in the urine with markedly decreased inorganic sulfate excretion and resulting in variable phenotypes ranging from severe early onset disease to late-onset, milder disease that has_material_basis_in homozygous or compound heterozygous mutation in SUOX on 12q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK453433/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/6025118 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9428520 "DO"] synonym: "sulfite oxidase deficiency" EXACT [] synonym: "sulfocysteinuria" EXACT [] xref: GARD:5062 xref: MESH:C538141 xref: ORDO:99731 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111271 name: Oliver-McFarlane syndrome alt_id: MIM:275400 def: "A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25480986 "DO"] synonym: "congenital trichomegaly, pigmentary retinal degeneration, and short stature" EXACT [] synonym: "long eyelashes-intellectual disability syndrome" EXACT [] synonym: "long eyelashes, mental retardation" EXACT [] synonym: "long eyelashes with mental retardation" EXACT [] synonym: "OMCS" EXACT [] synonym: "trichomegaly, pigmentary retina degeneration, dwarfism" EXACT [] synonym: "trichomegaly-retina pigmentary degeneration-dwarfism syndrome" EXACT [] synonym: "trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina" EXACT [] xref: GARD:5266 xref: MESH:C536554 xref: ORDO:3363 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060260 ! ptosis is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:0111272 name: occipital horn syndrome alt_id: MIM:304150 def: "A metal metabolism disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible joints, varicosities, abnormal copper transport, and multiple skeletal abnormalities that has_material_basis_in X-linked recessive inheritance of mutations in ATP7A on Xq21.1. This disorder is allelic to Menkes disease. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7842019 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7887410 "DO"] synonym: "EDS9" EXACT [] synonym: "EDS IX" EXACT [] synonym: "Ehlers-Danlos syndrome, occipital horn type" EXACT [] synonym: "Ehlers-Danlos syndrome type 9" EXACT [] synonym: "Ehlers-Danlos syndrome type IX" EXACT [] synonym: "OHS" EXACT [] synonym: "X-linked cutis laxa" EXACT [] xref: GARD:4017 xref: MESH:C537860 xref: ORDO:198 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:3144 ! cutis laxa is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:0111273 name: NARP syndrome alt_id: MIM:551500 def: "A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2137962 "DO"] synonym: "neurogenic muscle weakness, ataxia, and retinitis pigmentosa" EXACT [] synonym: "neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome" EXACT [] synonym: "neuropathy, ataxia and retinitis pigmentosa" EXACT [] synonym: "neuropathy, ataxia, retinitis pigmentosa syndrome" EXACT [] xref: GARD:262 xref: MESH:C537396 xref: ORDO:644 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:0111274 name: CODAS syndrome alt_id: MIM:600373 def: "A syndrome characterized by developmental delay, and cerebral, ocular, dental, auricular, and skeletal anomalies that has_material_basis_in homozygous or compound heterozygous mutation in LONP1 on 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25574826 "DO"] synonym: "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome" EXACT [] synonym: "cerebral, ocular, dental, auricular, and skeletal syndrome" EXACT [] synonym: "cerebral, ocular, dental, auricular, skeletal anomalies syndrome" EXACT [] synonym: "cerebro-oculo-dento-auriculo-skeletal syndrome" EXACT [] synonym: "LONP1-RELATED CONDITION" EXACT [] xref: GARD:1418 xref: MESH:C536434 xref: NCI:C126744 xref: ORDO:1458 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005560 ! Congenital Hip Dislocation is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0111275 name: speech-language disorder-1 def: "A speech disorder characterized by severe orofacial dyspraxia resulting in largely incomprehensible speech that has_material_basis_in heterozygous mutation in FOXP2 on 7q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11586359 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1934976 "DO"] synonym: "childhood apraxia of speech" EXACT [] synonym: "developmental apraxia of speech" EXACT [] synonym: "FOXP2-RELATED CONDITION" EXACT [] synonym: "SPCH1" EXACT [] synonym: "speech and language disorder with orofacial dyspraxia" EXACT [] synonym: "speech-language disorder type 1" EXACT [] xref: GARD:12889 xref: MIM:602081 xref: ORDO:209908 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060135 ! apraxia is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:92 ! speech disorder [Term] id: DOID:0111276 name: sensory ataxic neuropathy, dysarthria, and ophthalmoparesis alt_id: MESH:C579922 alt_id: MIM:607459 alt_id: OMIA:001467 def: "A mitochondrial metabolism disease characterized by mitochondrial dysfunction resulting in adult onset of sensory ataxic neuropathy, dysarthria, and progressive external ophthalmoparesis that has_material_basis_in homozygous or compound heterozygous mutation in POLG on 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12565911 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20220442 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9222196 "DO"] synonym: "ataxia neuropathy spectrum" EXACT [] synonym: "ATAXIA NEUROPATHY SPECTRUM DISORDERS" EXACT [] synonym: "ATAXIA WITH DYSARTHRIA" NARROW [] synonym: "autosomal recessive sensory ataxic neuropathy with mitochondrial DNA deletions" EXACT [] synonym: "EPILEPSY, PROGRESSIVE MYOCLONIC, WITH SENSORY ATAXIC NEUROPATHY" NARROW [] synonym: "EPM5" EXACT [] synonym: "MIRAS" EXACT [] synonym: "mitochondrial recessive ataxia syndrome" EXACT [] synonym: "progressive myoclonic epilepsy 5" EXACT [] synonym: "SANDO" EXACT [] synonym: "SCAE" NARROW [] synonym: "sensory ataxia neuropathy, dysarthria and ophthalmoplegia" EXACT [] xref: MESH:C537583 xref: ORDO:70595 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:539 ! ophthalmoplegia is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9001722 ! Dysarthria [Term] id: DOID:0111277 name: mitochondrial trifunctional protein deficiency def: "A lipid metabolism disorder characterized by abnormal fatty acid oxidation resulting a wide range of clinical manifestations from servere neonatal symptoms including cardiomyopathy, hypoglycemia, metabolic acidosis, skeletal myopathy and neuropathy, liver disease and death to a more mild phenotype including peripheral polyneuropathy, episodic rhabdomyolysis and pigmentary retinopathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12754706 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12838198 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7738175 "DO"] synonym: "HADHA-RELATED CONDITION" BROAD [] synonym: "HADHA-related disorder" BROAD [] synonym: "Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency" NARROW [] synonym: "Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency" NARROW [] synonym: "Long-Chain 3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency" NARROW [] synonym: "Long-Chain 3-OH Acyl-CoA Dehydrogenase Deficiency" NARROW [] synonym: "MTPD" EXACT [] synonym: "TFPD" EXACT [] synonym: "TFP deficiency" EXACT [] synonym: "trifunctional protein deficiency" EXACT [] synonym: "trifunctional protein deficiency with myopathy and neuropathy" RELATED [] xref: GARD:3684 xref: MESH:C566945 xref: MIM:PS609015 xref: NCI:C98991 xref: ORDO:746 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002882 ! Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency [Term] id: DOID:0111278 name: histiocytosis-lymphadenopathy plus syndrome alt_id: MIM:602782 def: "A syndrome characterized by histiocytosis, hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, and reduced height that has_material_basis_in homozygous or compound heterozygous mutation in SLC29A3 on 10q22.1. This syndrome comprises features from 4 histiocytic disorders that were previously considered distinct: Faisalabad histiocytosis, sinus histiocytosis with massive lymphadenopathy, H syndrome, and pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20140240 "DO"] synonym: "Faisalabad histiocytosis" EXACT [] synonym: "familial Rosai-Dorfman disease" EXACT [] synonym: "histiocytosis and lymphadenopathy with or without cutaneous, cardiac, and/or endocrine features, joint contractures, and/or deafness" EXACT [] synonym: "Histiocytosis with Joint Contractures and Sensorineural Deafness" EXACT [] synonym: "HJCD" EXACT [] synonym: "H SYNDROME" EXACT [] synonym: "Hyperpigmentation, Cutaneous, with Hypertrichosis, Hepatosplenomegaly, Heart Anomalies, and Hypogonadism With or Without Hearing Loss" EXACT [] synonym: "PHID" EXACT [] synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus" EXACT [] synonym: "pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome" EXACT [] synonym: "Rosai–Dorfman disease" EXACT [] synonym: "SHML" EXACT [] synonym: "sinus histiocytosis and massive lymphadenopathy" EXACT [] xref: EFO:1000528 xref: GARD:7588 xref: ICDO:9749/3 xref: MESH:C538322 xref: MONDO:0006412 xref: NCI:C36075 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:3405 ! histiocytosis is_a: DOID:9006836 ! Contracture [Term] id: DOID:0111279 name: psoriasis 7 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 1p that includes IL23R. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17236132 "DO"] synonym: "IL23R-RELATED CONDITION" BROAD [] synonym: "PSORIASIS 7, SUSCEPTIBILITY TO" RELATED [] synonym: "Psoriasis Susceptibility 7" RELATED [] synonym: "PSORS7" EXACT [] xref: MIM:605606 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111280 name: psoriasis 4 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 1q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9886260 "DO"] synonym: "PSORIASIS 4, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 4" EXACT [] synonym: "PSORS4" EXACT [] xref: MIM:603935 xref: MONDO:0011387 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111281 name: psoriasis 15 def: "A psoriasis characterized by pustular psoriasis that has_material_basis_in heterozygous mutation in the AP1S3 gene on chromosome 2q36.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24791904 "DO"] synonym: "PSORS15" EXACT [] synonym: "pustular psoriasis 15, susceptibility to" RELATED [] xref: MIM:616106 xref: MONDO:0014494 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111282 name: psoriasis 5 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 3q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10573011 "DO"] synonym: "PSORIASIS 5, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 5" EXACT [] synonym: "PSORS5" EXACT [] xref: MIM:604316 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111283 name: psoriasis 3 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 4q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8841203 "DO"] synonym: "PSORIASIS 3, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 3" EXACT [] synonym: "PSORS3" EXACT [] xref: MIM:601454 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111284 name: psoriasis 9 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 4q31-q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12485440 "DO"] synonym: "PSORIASIS 9, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 9" EXACT [] synonym: "PSORS9" EXACT [] xref: MIM:607857 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111285 name: psoriasis 11 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 5q31.1-q33.1 that includes IL12B. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17236132 "DO"] synonym: "PSORIASIS 11, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 11" EXACT [] synonym: "PSORS11" EXACT [] xref: MIM:612599 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111286 name: psoriasis 1 def: "A psoriasis that has_material_basis_in variation in HLA-C on chromosome 6p21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11841557 "DO"] synonym: "PSORIASIS 1, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 1" EXACT [] synonym: "PSORS1" EXACT [] xref: MIM:177900 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111287 name: psoriasis 13 def: "A psoriasis that has_material_basis_in variation in the TRAF3IP2 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20953188 "DO"] synonym: "PSORIASIS 13, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 13" EXACT [] synonym: "PSORS13" EXACT [] xref: MIM:614070 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111288 name: psoriasis 8 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 16q. This region overlaps one that is associated with inflammatory bowel disease 1 disease. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9259283 "DO"] synonym: "psoriasis 8, susceptibility to" EXACT [] synonym: "psoriasis susceptibility 8" EXACT [] synonym: "PSORS8" EXACT [] xref: MIM:610707 xref: MONDO:0012542 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111289 name: psoriasis 10 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 18p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14632189 "DO"] synonym: "PSORIASIS 10, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 10" EXACT [] synonym: "PSORS10" EXACT [] xref: MIM:612410 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111290 name: psoriasis 6 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 19p13 that includes BSG. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10986047 "DO"] synonym: "PSORIASIS 6, SUSCEPTIBILITY TO" EXACT [] synonym: "Psoriasis Susceptibility 6" EXACT [] synonym: "PSORS6" EXACT [] xref: MIM:605364 is_a: DOID:8893 ! psoriasis [Term] id: DOID:0111291 name: psoriasis 12 def: "A psoriasis that has_material_basis_in variation in a region on chromosome 20q13 that includes RNF114. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18364390 "DO"] synonym: "psoriasis 12, susceptibility to" RELATED [] synonym: "psoriasis susceptibility 12" RELATED [] synonym: "PSORS12" EXACT [] xref: MIM:612950 is_a: DOID:8893 ! psoriasis created_by: rgd creation_date: 2018-03-15T16:23:54Z [Term] id: DOID:0111292 name: idiopathic generalized epilepsy 10 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15115768 "DO"] synonym: "EIG10" EXACT [] synonym: "EJM7" NARROW [] synonym: "GABRD-RELATED CONDITION" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 10" RELATED [] synonym: "juvenile myoclonic epilepsy, susceptibility to, 7" RELATED [] xref: MIM:613060 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111293 name: generalized epilepsy with febrile seizures plus 4 alt_id: MIM:609800 alt_id: RDO:0013929 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 2p24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15827091 "DO"] synonym: "GEFS+4" EXACT [] synonym: "GEFS+, type 4" EXACT [] synonym: "GEFSP4" EXACT [] synonym: "GEFSP, Type 4" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 4" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 4" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 4" EXACT [] xref: MESH:C565227 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111294 name: generalized epilepsy with febrile seizures plus 2 alt_id: MIM:604403 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1A on chromosome 2q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10742094 "DO"] synonym: "FEB3A" NARROW [] synonym: "GEFS+2" EXACT [] synonym: "GEFS+2 familial febrile seizures 3A" NARROW [] synonym: "GEFS+, type 2" EXACT [] synonym: "GEFSP2" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 2" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 2" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 2" EXACT [] xref: MESH:C565810 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111295 name: generalized epilepsy with febrile seizures plus 7 alt_id: MIM:613863 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN9A on chromosome 2q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19763161 "DO"] synonym: "familial febrile seizures 3B" NARROW [] synonym: "FEB3B" NARROW [] synonym: "GEFS+7" EXACT [] synonym: "GEFS+7 FEBRILE SEIZURES, FAMILIAL, 3B" NARROW [] synonym: "GEFS+, type 7" EXACT [] synonym: "GEFSP7" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 7" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 7" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 7" EXACT [] xref: MESH:C567827 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111296 name: generalized epilepsy with febrile seizures plus 10 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in HCN1 on chromosome 5p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30351409 "DO"] synonym: "GEFS+10" EXACT [] synonym: "GEFS+, type 10" EXACT [] synonym: "GEFSP10" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 10" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 10" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 10" EXACT [] xref: MIM:618482 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111297 name: familial febrile seizures def: "A brain disease characterized by seizures during childhood associated with febrile episodes without any evidence of intracranial infection or defined pathologic or traumatic cause with a familial pattern of inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12429594 "DO"] synonym: "familial febrile convulsions" EXACT [] synonym: "FEB" EXACT [] xref: MIM:PS121210 is_a: DOID:9007956 ! Febrile Seizures created_by: rgd creation_date: 2017-11-30T00:00:00Z [Term] id: DOID:0111298 name: familial febrile seizures 8 alt_id: MIM:607681 def: "A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8730286 "DO"] synonym: "familial febrile convulsions 8" EXACT [] synonym: "FEB8" EXACT [] synonym: "GABRG2-RELATED CONDITION" BROAD [] synonym: "GEFS+3 familial febrile seizures 8" EXACT [] xref: MESH:C566975 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111299 name: generalized epilepsy with febrile seizures plus 8 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 6q16.3-q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19841378 "DO"] synonym: "GEFS+8" EXACT [] synonym: "GEFS+, TYPE 8" EXACT [] synonym: "GEFSP8" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 8" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 8" EXACT [] synonym: "Generalized Epilepsy with Febrile Seizures Plus, Type 8" EXACT [] xref: MIM:613828 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111300 name: generalized epilepsy with febrile seizures plus 6 alt_id: MIM:612279 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in variation in a region on chromosome 8p23-p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18625863 "DO"] synonym: "GEFS+6" EXACT [] synonym: "GEFSP6" EXACT [] synonym: "GEFS, Type 6" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 6" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 6" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 6" EXACT [] xref: MESH:C567371 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111301 name: generalized epilepsy with febrile seizures plus 9 alt_id: RDO:9001363 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in STX1B on chromosome 16p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25362483 "DO"] synonym: "GEFS+9" EXACT [] synonym: "GEFS+, type 9" EXACT [] synonym: "GEFSP9" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 9" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 9" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 9" EXACT [] xref: MIM:616172 xref: NCI:C192201 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus [Term] id: DOID:0111302 name: generalized epilepsy with febrile seizures plus 1 alt_id: MIM:604233 def: "A generalized epilepsy with febrile seizures plus that has_material_basis_in heterozygous mutation in SCN1B on chromosome 19q13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9697698 "DO"] synonym: "GEFS+1" EXACT [] synonym: "GEFSP1" EXACT [] synonym: "GEFS, type 1" EXACT [] synonym: "generalised epilepsy with febrile seizures plus 1" EXACT [] synonym: "generalised epilepsy with febrile seizures plus type 1" EXACT [] synonym: "generalized epilepsy with febrile seizures plus, type 1" EXACT [] xref: MESH:C565809 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus created_by: rgd creation_date: 2017-12-11T00:00:00Z [Term] id: DOID:0111303 name: familial febrile seizures 9 alt_id: MIM:611634 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3p24.2-p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17452582 "DO"] synonym: "familial febrile convulsions 9" EXACT [] synonym: "FEB9" EXACT [] xref: MESH:C566901 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111304 name: familial febrile seizures 10 alt_id: MIM:612637 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 3q26.2-q26.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18830713 "DO"] synonym: "familial febrile convulsions 10" EXACT [] synonym: "FEB10" EXACT [] xref: MESH:C567218 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111305 name: familial febrile seizures 4 def: "A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12402266 "DO"] synonym: "ADGRV1-RELATED CONDITION" BROAD [] synonym: "ADGRV1-RELATED DISORDER" BROAD [] synonym: "familial febrile convulsions 4" EXACT [] synonym: "FEB4" EXACT [] xref: MESH:C565788 xref: MIM:604352 xref: MONDO:0011443 is_a: DOID:0111297 ! familial febrile seizures created_by: slaulede creation_date: 2018-07-10T17:55:06Z [Term] id: DOID:0111306 name: familial febrile seizures 5 alt_id: MIM:609255 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 6q22-q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12429594 "DO"] synonym: "familial febrile convulsions 5" EXACT [] synonym: "FEB5" EXACT [] xref: MESH:C563762 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111307 name: familial febrile seizures 1 alt_id: MIM:121210 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 8q13-q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8730286 "DO"] synonym: "familial febrile convulsions 1" EXACT [] synonym: "familial seizures 1" EXACT [] synonym: "FEB1" EXACT [] xref: MESH:C565162 is_a: DOID:0111297 ! familial febrile seizures created_by: rgd creation_date: 2018-01-17T16:37:25Z [Term] id: DOID:0111308 name: familial febrile seizures 11 def: "A familial febrile seizures that has_material_basis_in homozygous mutation in the CPA6 gene on chromosome 8p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21922598 "DO"] synonym: "CPA6-RELATED CONDITION" BROAD [] synonym: "familial febrile convulsions 11" EXACT [] synonym: "FEB11" EXACT [] xref: MIM:614418 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111309 name: familial febrile seizures 6 alt_id: MIM:609253 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 18p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15557493 "DO"] synonym: "familial febrile convulsions 6" EXACT [] synonym: "FEB6" EXACT [] xref: MESH:C563764 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111310 name: familial febrile seizures 2 alt_id: MIM:602477 def: "A familial febrile seizures that has_material_basis_in variation in a region on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9384604 "DO"] synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 17" RELATED [] synonym: "familial febrile convulsions 2" EXACT [] synonym: "FEB2" EXACT [] synonym: "HCN2 RELATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY" RELATED [] xref: MESH:C566541 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111311 name: familial febrile seizures 7 alt_id: MIM:611515 def: "A familial febrile seizures that has_material_basis_in heterozygous mutation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17054683 "DO"] synonym: "familial febrile convulsions 7" EXACT [] synonym: "FEB7" EXACT [] xref: MESH:C566929 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:0111312 name: idiopathic generalized epilepsy 11 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19710712 "DO"] synonym: "EIG11" EXACT [] synonym: "EJA2" NARROW [] synonym: "EJM8" NARROW [] synonym: "idiopathic generalized epilepsy, susceptibility to, 11" RELATED [] synonym: "juvenile absence epilepsy, susceptibility to, 2" RELATED [] synonym: "juvenile myoclonic epilepsy, susceptibility to, 8" RELATED [] xref: MIM:607628 is_a: DOID:0060172 ! juvenile absence epilepsy is_a: DOID:1827 ! idiopathic generalized epilepsy is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111313 name: idiopathic generalized epilepsy 12 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19798636 "DO"] synonym: "EIG12" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 12" RELATED [] xref: MIM:614847 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111314 name: idiopathic generalized epilepsy 13 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11992121 "DO"] synonym: "ECA4" NARROW [] synonym: "EIG13" EXACT [] synonym: "EJM5" NARROW [] synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4" NARROW [] synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13" RELATED [] synonym: "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5" NARROW [] xref: MIM:611136 is_a: DOID:1825 ! childhood absence epilepsy is_a: DOID:1827 ! idiopathic generalized epilepsy is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111315 name: idiopathic generalized epilepsy 14 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24928908 "DO"] synonym: "EIG14" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 14" RELATED [] xref: MIM:616685 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111316 name: idiopathic generalized epilepsy 15 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27352968 "DO"] synonym: "EIG15" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 15" RELATED [] xref: MIM:618357 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111317 name: idiopathic generalized epilepsy 2 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 14q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10888596 "DO"] synonym: "EIG2" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 2" RELATED [] xref: MIM:606972 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111318 name: idiopathic generalized epilepsy 3 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 9q32-q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15101829 "DO"] synonym: "EIG3" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 3" RELATED [] xref: MIM:608762 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111319 name: idiopathic generalized epilepsy 4 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10q25-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16130088 "DO"] synonym: "EIG4" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 4" RELATED [] xref: MIM:609750 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111320 name: idiopathic generalized epilepsy 5 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 10p11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18241056 "DO"] synonym: "EIG5" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 5" RELATED [] xref: MIM:611934 is_a: DOID:1827 ! idiopathic generalized epilepsy created_by: rgd creation_date: 2018-03-12T14:56:55Z [Term] id: DOID:0111321 name: idiopathic generalized epilepsy 7 def: "An idiopathic generalized epilepsy that has_material_basis_in variation in a region on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9259280 "DO"] synonym: "EIG7" EXACT [] synonym: "EJM2" NARROW [] synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 7" EXACT [] synonym: "MYOCLONIC EPILEPSY, JUVENILE, 2" NARROW [] xref: MIM:604827 is_a: DOID:1827 ! idiopathic generalized epilepsy is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111322 name: idiopathic generalized epilepsy 8 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CASR on chromosome 3q13.3-q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18756473 "DO"] synonym: "EIG8" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 8" RELATED [] xref: MIM:612899 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111323 name: idiopathic generalized epilepsy 9 def: "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10762541 "DO"] synonym: "EIG9" EXACT [] synonym: "EJM6" NARROW [] synonym: "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 6" RELATED [] synonym: "idiopathic generalized epilepsy, susceptibility to, 9" RELATED [] xref: MIM:607682 is_a: DOID:1827 ! idiopathic generalized epilepsy [Term] id: DOID:0111324 name: juvenile absence epilepsy 1 def: "A juvenile absence epilepsy that has_material_basis_in heterozygous mutation in EFHC1 on 6p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14663045 "DO"] synonym: "EJA1" EXACT [] synonym: "JAE1" EXACT [] synonym: "juvenile absence epilepsy, susceptibility to, 1" RELATED [] xref: MIM:607631 is_a: DOID:0060172 ! juvenile absence epilepsy [Term] id: DOID:0111325 name: juvenile myoclonic epilepsy 10 def: "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous mutation in ICK on chromosome 6p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29539279 "DO"] synonym: "EJM10" EXACT [] xref: MIM:617924 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111326 name: juvenile myoclonic epilepsy 3 def: "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 6p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12830434 "DO"] synonym: "EJM3" EXACT [] synonym: "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 3" EXACT [] xref: MIM:608816 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111327 name: juvenile myoclonic epilepsy 4 def: "A juvenile myoclonic epilepsy that has_material_basis_in variation in a region on chromosome 5q12-q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17431681 "DO"] synonym: "EJM4" EXACT [] synonym: "MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 4" EXACT [] xref: MIM:611364 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111328 name: juvenile myoclonic epilepsy 9 def: "A juvenile myoclonic epilepsy that has_material_basis_in heterozygous variation in a region on chromosome 2q33-q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20467754 "DO"] synonym: "EJM9" EXACT [] synonym: "Epilepsy, juvenile myoclonic, susceptibility to, 9" EXACT [] xref: MIM:614280 is_a: DOID:4890 ! juvenile myoclonic epilepsy [Term] id: DOID:0111329 name: pyridoxamine 5'-phosphate oxidase deficiency alt_id: MIM:610090 def: "A vitamin metabolic disorder characterized by vitamin B6 deficienc resulting in neonatal-onset of severe seizures that can be controlled with pyridoxal 5'-phosphate treatment that has_material_basis_in homozygous or compound heterozygous mutation in PNPO on 17q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24658933 "DO"] synonym: "PNPOD" EXACT [] synonym: "PNPO deficiency" EXACT [] synonym: "PNPO-Related Neonatal Epileptic Encephalopathy" EXACT [] synonym: "Pyridoxal 5'-Phosphate-Dependent Epilepsy" EXACT [] synonym: "pyridoxal phosphate-dependent seizures" EXACT [] synonym: "pyridoxal phosphate-responsive seizures" EXACT [] synonym: "pyridoxamine 5'-oxidase deficiency" EXACT [] synonym: "Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency" EXACT [] synonym: "pyridoxine-5'-phosphate oxidase deficiency" EXACT [] synonym: "pyridoxine-resistant seizures, PLP-sensitive" EXACT [] xref: GARD:10730 xref: MESH:C566449 xref: ORDO:79096 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:1826 ! epilepsy is_a: DOID:9003676 ! Brain Hypoxia-Ischemia is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:0111330 name: combined saposin deficiency alt_id: MIM:611721 def: "A sphingolipidosis characterized by absence of expression of both isoforms of PSAP (SAP1 and SAP2) resulting in hepatosplenomegaly and severe neurological disease that has_material_basis_in homozygous or compound heterozygous mutation in PSAP on 10q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11309366 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1371116 "DO"] synonym: "combined SAP deficiency" EXACT [] synonym: "encephalopathy due to prosaposin deficiency" EXACT [] synonym: "prosaposin deficiency" EXACT [] synonym: "PSAPD" EXACT [] synonym: "SPHINGOLIPID ACTIVATOR PROTEIN 1 DEFICIENCY" EXACT [] xref: MESH:C567125 xref: ORDO:139406 is_a: DOID:10581 ! metachromatic leukodystrophy [Term] id: DOID:0111331 name: intellectual disability-severe speech delay-mild dysmorphism syndrome def: "A syndromic intellectual disability characterized by global developmental delay with moderate to severe speech delay, dysmorphic craniofacial features, and gross motor skill delays that particularly affects expressive speech that has_material_basis_in heterozygous mutation in the FOXP1 gene on chromosome 3p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24214399 "DO"] synonym: "FOXP1 Haploinsufficiency" EXACT [] synonym: "FOXP1-RELATED CONDITION" EXACT [] synonym: "FOXP1-Related Neurodevelopmental Disorder" EXACT [] synonym: "FOXP1 syndrome" EXACT [] synonym: "IDDLA" EXACT [] synonym: "intellectual developmental disorder with language impairment and with or without autistic features" EXACT [] synonym: "intellectual disability with language impairment" EXACT [] synonym: "INTELLECTUAL DISABILITY WITH LANGUAGE IMPAIRMENT AND AUTISTIC FEATURES" NARROW [] synonym: "mental retardation with language impairment and autistic features" NARROW [] synonym: "mental retardation with language impairment and with or without autistic features" EXACT [] xref: EFO:1001500 xref: GARD:12501 xref: MIM:613670 xref: MONDO:0013352 xref: ORDO:391372 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:9005466 ! Language Development Disorders [Term] id: DOID:0111332 name: Pitt-Hopkins-like syndrome 2 def: "A syndromic intellectual disability characterized by developmental delay and intellectual disability with many patients also displaying infantile hypotonia and autistic features that has_material_basis_in compound heterozygous or homozygous mutation in the NRXN1 gene on chromosome 2p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19896112 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22617343 "DO"] synonym: "NRXN1-RELATED CONDITION" BROAD [] synonym: "NRXN-related disorder" BROAD [] synonym: "PTHSL2" EXACT [] xref: MIM:614325 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:0060488 ! Pitt-Hopkins syndrome [Term] id: DOID:0111333 name: early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome def: "A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22101682 "DO"] synonym: "CMYO10A" NARROW [] synonym: "CMYP10A" NARROW [] synonym: "congenital myopathy 10A" EXACT [] synonym: "Congenital myopathy 10A, severe variant" NARROW [] synonym: "EMARDD" EXACT [] synonym: "MEGF10-related myopathy" EXACT [] synonym: "Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset" EXACT [] synonym: "Myopathy, Areflexia, Respiratory Distress, and Dysphagia, Early-Onset, Mild Variant" NARROW [] xref: GARD:12199 xref: MIM:614399 xref: MONDO:0013731 xref: ORDO:439212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy is_a: DOID:9000123 ! Deglutition Disorders is_a: DOID:9004659 ! Respiration Disorders is_a: DOID:9005219 ! Abnormal Reflexes [Term] id: DOID:0111334 name: congenital leptin deficiency def: "A syndrome characterized by severe early-onset obesity, hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine and metabolic dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in LEP on chromosome 7q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10523015 "DO"] synonym: "LEPD" EXACT [] synonym: "LEP-RELATED CONDITION" EXACT [] synonym: "Leptin Deficiency" NARROW [] synonym: "leptin deficiency or dysfunction" EXACT [] synonym: "LEPTIN DYSFUNCTION" NARROW [] synonym: "nonsyndromic morbid obesity 1" EXACT [] synonym: "obesity due to congenital leptin deficiency" EXACT [] xref: MIM:614962 xref: ORDO:66628 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:11981 ! morbid obesity is_a: DOID:225 ! syndrome is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111335 name: myopathy with extrapyramidal signs def: "A myopathy characterized by early childhood onset of proximal muscle weakness, with development of progressive extrapyramidal motor signs in most patients, and learning disabilities that has_material_basis_in compound heterozygous or homozygous mutation in the MICU1 gene on chromosome 10q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24336167 "DO"] synonym: "MPXPS" EXACT [] synonym: "proximal myopathy with extrapyramidal signs" EXACT [] xref: GARD:12978 xref: MIM:615673 xref: ORDO:401768 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:423 ! myopathy is_a: DOID:9005532 ! Muscle Weakness [Term] id: DOID:0111336 name: craniofacial-deafness-hand syndrome alt_id: MIM:122880 def: "A syndrome characterized by a flat facial profile, hypertelorism, a hypoplastic nose with slitlike nares, and sensorineural hearing loss that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6859126 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8664898 "DO"] synonym: "CDHS" EXACT [] synonym: "Sommer-Young-Wee-Frye syndrome" EXACT [] xref: GARD:1571 xref: MESH:C536453 xref: ORDO:1529 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111337 name: Jackson-Weiss syndrome alt_id: MIM:123150 def: "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1271196 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7874170 "DO"] synonym: "acrocephalosyndactyly Jackson Weiss type" EXACT [] synonym: "craniosynostosis, midfacial hypoplasia, and foot abnormalities" EXACT [] synonym: "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome" EXACT [] synonym: "enlarged great toes and craniofacial abnormalities" EXACT [] synonym: "JWS" EXACT [] xref: GARD:6796 xref: MESH:C537559 xref: NCI:C123814 xref: ORDO:1540 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:0111338 name: isolated elevated serum creatine phosphokinase levels def: "An inherited metabolic disorder characterized by elevated serum creatine kinase levels in the absence of muscle weakness or other symptoms that has_material_basis_in in some cases in heterozygous mutation in the CAV3 gene on chromosome 3p25.3. (DO)" [https://ghr.nlm.nih.gov/condition/isolated-hyperckemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/10746614 "DO"] synonym: "CPK, ELEVATED SERUM" EXACT [] synonym: "Creatine Phosphokinase, Elevated Serum" EXACT [] synonym: "idiopathic hyperCKemia" EXACT [] synonym: "isolated hyperCKemia" EXACT [] xref: MIM:123320 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111339 name: Vohwinkel syndrome alt_id: MIM:124500 def: "A syndrome characterized by severe, honeycomb-patterned palmoplantar keratosis, constrictions on the fingers and toes leading to autoamputation and mild to moderate congenital sensorineural hearing loss that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369869 "DO"] synonym: "congenital deafness with keratopachydermia and constrictions fo fingers and toes" EXACT [] synonym: "congenital deafness with keratopachydermia and constrictions of fingers and toes" EXACT [] synonym: "keratoderma hereditarium mutilans" EXACT [] synonym: "KHM" EXACT [] synonym: "mutilating keratoderma" EXACT [] synonym: "mutilating keratoderma of Vohwinkel" EXACT [] synonym: "mutilating keratoderma plus deafness" EXACT [] synonym: "palmoplantar keratoderma mutilans" EXACT [] synonym: "palmoplantar keratoderma mutilans Vohwinkel" EXACT [] synonym: "PPK mutilans and deafness" EXACT [] synonym: "PPK mutilans Vohwinkel" EXACT [] synonym: "VOWNKL" EXACT [] xref: MESH:C536457 xref: ORDO:3092 xref: ORDO:494 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:0111340 name: dominant optic atrophy plus syndrome alt_id: MIM:125250 def: "A syndrome characterized by visual loss and sensorineural hearing loss with onset in childhood and associated with other symptoms including; progressive external ophthalmoplegia, muscle cramps, hyperreflexia, and ataxia that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12566046 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20157015 "DO"] synonym: "AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME" EXACT [] synonym: "DOA+" EXACT [] synonym: "OPA1-RELATED OPTIC ATROPHY WITH OR WITHOUT EXTRAOCULAR FEATURES" EXACT [] synonym: "optic atrophy 1 and deafness" EXACT [] synonym: "optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy" EXACT [] xref: GARD:5243 xref: MESH:C537124 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111341 name: primary failure of tooth eruption alt_id: MIM:125350 def: "A tooth disease characterized by incomplete tooth eruption despite the presence of a clear eruption pathway that has_material_basis_in heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19061984 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29544499 "DO"] synonym: "dental noneruption" EXACT [] synonym: "PFE" EXACT [] synonym: "Posterior Openbite, Familial" EXACT [] synonym: "POSTERIOR OPENBITE MALOCCLUSION, FAMILIAL" EXACT [] synonym: "Primary Failure of Eruption, Nonsyndromic" EXACT [] synonym: "Primary Retention of Teeth" EXACT [] synonym: "unerupted second primary molar" EXACT [] xref: MESH:C565114 xref: ORDO:412206 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1091 ! tooth disease [Term] id: DOID:0111342 name: dermatopathia pigmentosa reticularis alt_id: MIM:125595 def: "An ectodermal dysplasia characterized by reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1303619 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16960809 "DO"] synonym: "DPR" EXACT [] xref: GARD:8550 xref: MESH:C535374 xref: ORDO:86920 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4123 ! nail disease is_a: DOID:9003984 ! Hyperpigmentation is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:987 ! alopecia [Term] id: DOID:0111343 name: lateral meningocele syndrome alt_id: MIM:130720 def: "A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25394726 "DO"] synonym: "Lehman syndrome" EXACT [] synonym: "LMNS" EXACT [] synonym: "LMS" EXACT [] xref: GARD:9873 xref: MESH:C537878 xref: ORDO:2789 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1088 ! meningocele is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-12-01T00:00:00Z [Term] id: DOID:0111344 name: myeloproliferative disorder with eosinophilia alt_id: MIM:131440 def: "A myeloproliferative neoplasm characterized by chronic proliferation of myeloid cells and eosinophilia in the peripheral blood and bone marrow that has_material_basis_in a fusion of the ETV6 and PDGFRB genes formed by a translocation from chromosome 12 to chromosome 5q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12181402 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8168137 "DO"] synonym: "atypical Philadelphia-negative chronic myeloid leukemia" EXACT [] synonym: "chronic myeloproliferative disorder with eosinophilia" EXACT [] synonym: "Clonal Eosinophilia with Chronic Myeloproliferative Disorder" EXACT [] synonym: "EMP" EXACT [] synonym: "Eosinophils, Malignant Proliferation of" EXACT [] synonym: "MPE" EXACT [] synonym: "PDGFRB-associated chronic eosinophilic leukemia" EXACT [] synonym: "primary eosinophilia with chronic myeloproliferative disorder" EXACT [] xref: MESH:C565054 xref: MESH:C580365 is_a: DOID:0080188 ! chronic myelomonocytic leukemia is_a: DOID:2226 ! myeloproliferative neoplasm is_a: DOID:9001371 ! Eosinophilia is_a: DOID:999 ! hypereosinophilic syndrome [Term] id: DOID:0111345 name: transient bullous dermolysis of the newborn def: "An epidermolysis bullosa dystrophica characterized by generalized blistering at birth that usually regresses by 6 to 24 months of age that has_material_basis_in heterozygous, compound heterozygous or homozygous mutation in COL7A1 on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16225626 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9406826 "DO"] synonym: "DEB-BDN" EXACT [] synonym: "DEB, bullous dermolysis of the newborn" EXACT [] synonym: "dystrophic epidermolysis bullosa, dominant neonatal" EXACT [] synonym: "dystrophic epidermolysis bullosa, neonatal" EXACT [] synonym: "epidermolysis bullosa dystrophica, dominant neonatal form" EXACT [] synonym: "epidermolysis bullosa dystrophica, neonatal form" EXACT [] synonym: "TBDN" EXACT [] xref: GARD:10010 xref: MESH:C536979 xref: MIM:131705 xref: MONDO:0007548 xref: ORDO:79411 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:0111346 name: epidermolysis bullosa simplex with mottled pigmentation alt_id: MIM:131960 def: "An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/421361 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8799157 "DO"] synonym: "EBS2F" EXACT [] synonym: "EBSMP" EXACT [] synonym: "epidermolysis bullosa simplex 2F with mottled pigmentation" EXACT [] synonym: "epidermolysis bullosa simplex-MP" EXACT [] synonym: "speckled hyperpigmentation, palmo-plantar punctate keratoses and childhood blistering" EXACT [] synonym: "speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering" EXACT [] xref: GARD:9737 xref: MESH:C535959 xref: ORDO:79397 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:0111347 name: epidermolysis bullosa with congenital localized absence of skin and deformity of nails alt_id: MIM:132000 def: "An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5910871 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8618021 "DO"] synonym: "EBD, Bart type" EXACT [] synonym: "epidermolysis bullosa dystrophica, Bart type" EXACT [] xref: MESH:C562638 is_a: DOID:0080015 ! physical disorder is_a: DOID:0080224 ! autosomal dominant dystrophic epidermolysis bullosa [Term] id: DOID:0111348 name: multiple epiphyseal dysplasia with myopia and deafness alt_id: MIM:132450 def: "A syndrome characterized by typically mild epiphyseal dysplasia, progessive myopia, retinal thinning, crenated cataracts, conductive deafness and brachydactyly that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/699354 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9800905 "DO"] synonym: "EDMMD" EXACT [] synonym: "multiple epiphyseal dysplasia, Beighton type" EXACT [] synonym: "multiple epiphyseal dysplasia-myopia-deafness syndrome" EXACT [] synonym: "multiple epiphyseal dysplasia with myopia and conductive deafness" EXACT [] xref: MESH:C565046 xref: ORDO:166011 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11830 ! myopia is_a: DOID:12721 ! multiple epiphyseal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:0111349 name: hereditary desmoid disease alt_id: MIM:135290 def: "A syndrome characterized by extraintestinal manifestation of familial adenomatous polyposis that has_material_basis_in in some cases by extreme 3' mutation in APC on 5q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10782927 "DO"] synonym: "desmoid tumor caused by somatic mutation" EXACT [] synonym: "familial infiltrative fibromatosis" EXACT [] synonym: "FIF" EXACT [] xref: MESH:C535944 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:9003078 ! Abdominal Neoplasms is_a: DOID:9003291 ! Aggressive Fibromatosis [Term] id: DOID:0111350 name: Laurin-Sandrow syndrome alt_id: MIM:135750 def: "A dysostosis characterized by polysyndactyly of hands and/or feet, mirror image duplication of the feet, nasal defects, and loss of identity between fibula and tibia that has_material_basis_in heterozygous inheritance of small (less than 80kb) duplications in a SHH regulatory element located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24456159 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4314818 "DO"] synonym: "duplication of fibula and ulna with absence of tibia and radius" EXACT [] synonym: "fibula ulna duplication, tibia radius absence" EXACT [] synonym: "Laurin-Sandrow Syndrome, Segmental" EXACT [] synonym: "LSS" EXACT [] synonym: "miccor hands and feet with nasal defects" EXACT [] synonym: "MIP" EXACT [] synonym: "MIPduplication of fibuland ulna with absence of tibia and radius" EXACT [] synonym: "mirror hands and feets-nasal defects syndrome" EXACT [] synonym: "mirror hands and feet with nasal defects" EXACT [] synonym: "mirror-image polydactyly" EXACT [] synonym: "Sandrow syndrome" EXACT [] synonym: "tetramelic mirror-image polydactyly" EXACT [] synonym: "TMIP" EXACT [] xref: GARD:155 xref: MESH:C535689 xref: ORDO:2378 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9000545 ! Ectromelia is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111351 name: D-2-hydroxyglutaric aciduria 1 def: "A D-2-hydroxyglutaric aciduria that has_material_basis_in homozygous or compound heterozygous mutation in D2HGDH on 2q37.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15609246 "DO"] synonym: "D2HGA1" EXACT [] xref: MIM:600721 is_a: DOID:0050575 ! D-2-hydroxyglutaric aciduria is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111352 name: D-2-hydroxyglutaric aciduria 2 def: "A D-2-hydroxyglutaric aciduria that has_material_basis_in heterozygous mutation in IDH2 on 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20847235 "DO"] synonym: "D2HGA2" EXACT [] xref: MIM:613657 is_a: DOID:0050575 ! D-2-hydroxyglutaric aciduria is_a: DOID:0050736 ! autosomal dominant disease created_by: slaulede creation_date: 2019-07-08T10:32:00Z [Term] id: DOID:0111353 name: arthrogryposis, renal dysfunction, and cholestasis 1 def: "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VPS33B on 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15052268 "DO"] synonym: "ARCS1" EXACT [] xref: MIM:208085 is_a: DOID:0050763 ! ARC syndrome [Term] id: DOID:0111354 name: arthrogryposis, renal dysfunction, and cholestasis 2 def: "An arthrogryposis, renal dysfunction, and cholestasis that has_material_basis_in homozygous or compound heterozygous mutation in VIPAS39 on 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20190753 "DO"] synonym: "ARCS2" EXACT [] xref: MIM:613404 is_a: DOID:0050763 ! ARC syndrome [Term] id: DOID:0111355 name: hydrolethalus syndrome 1 alt_id: MIM:236680 def: "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the HYLS1 gene on chromosome 11q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15843405 "DO"] synonym: "HLS1" EXACT [] xref: MESH:C565504 is_a: DOID:0050779 ! hydrolethalus syndrome [Term] id: DOID:0111356 name: hydrolethalus syndrome 2 def: "A hydrolethalus syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KIF7 gene on chromosome 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21552264 "DO"] synonym: "HLS2" EXACT [] xref: MIM:614120 is_a: DOID:0050779 ! hydrolethalus syndrome [Term] id: DOID:0111357 name: adermatoglyphia alt_id: MIM:136000 def: "A skin disease characterized by lack of epidermal ridges on the fingers, toes, palms and soles that has_material_basis_in heterozygous mutation in the SMARCAD1 gene on chromosome 4q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21820097 "DO"] synonym: "absence of fingerprints" EXACT [] synonym: "ADERM" EXACT [] synonym: "ADG" EXACT [] synonym: "Congenital absence of fingerprints" EXACT [] synonym: "Immigration delay disease" EXACT [] synonym: "isolated congenital adermatoglyphia" EXACT [] xref: GARD:12550 xref: MESH:C565010 xref: ORDO:289465 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111358 name: Floating-Harbor syndrome alt_id: MIM:136140 def: "A syndrome characterized by growth retardation, proportionate short stature, delayed bone age, delayed speech development and facial features including triangular shape, deep-set eyes, long eyelashes, bulbous nose, wide columella, short philtrum, and thin lips that has_material_basis_in heterozygous mutation in the SRCAP gene on chromosome 16p11.2. (DO)" [https://ghr.nlm.nih.gov/condition/floating-harbor-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/22265015 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7588969 "DO"] synonym: "FLHS" EXACT [] synonym: "Leisti-Hollander-Rimoin syndrome" EXACT [] synonym: "Pelletier-Leisti syndrome" EXACT [] synonym: "SRCAP-RELATED CONDITION" BROAD [] xref: GARD:6455 xref: MESH:C537062 xref: NCI:C175241 xref: ORDO:2044 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1657 ! ventricular septal defect is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111359 name: large congenital melanocytic nevus alt_id: MIM:137550 def: "A skin disease characterized by the presence at birth of a pigmented skin lesion composed of melanocytes of more than 20 cm in projected adult diameter that has_material_basis_in somatic mutation in the NRAS gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18671780 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23392294 "DO"] synonym: "CMNS" EXACT [] synonym: "congenital melanocytic nevus syndrome, somatic" EXACT [] synonym: "Congenital pigmented nevus" EXACT [] synonym: "Giant congenital melanocytic nevus" EXACT [] synonym: "GIANT CONGENITAL PIGMENTED NEVUS" EXACT [] synonym: "Giant Pigmented Hairy Nevus" EXACT [] synonym: "GMN" EXACT [] synonym: "GPHN" EXACT [] synonym: "LCMN" EXACT [] synonym: "MELANOCYTIC NEVUS SYNDROME, CONGENITAL" EXACT [] synonym: "PIGMENTED MOLES NEVUS SPILUS" NARROW [] synonym: "spitz nevus" NARROW [] xref: MESH:C536819 xref: NCI:C3944 xref: NCI:C4234 xref: ORDO:626 is_a: DOID:0080015 ! physical disorder is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9005120 ! Pigmented Nevus [Term] id: DOID:0111360 name: hypotrichosis-lymphedema-telangiectasia-renal defect syndrome alt_id: MIM:137940 def: "A syndrome characterized by onset in childhood of progressive hypotrichosis, lymphedema, telangiectasia, and renal defects that has_material_basis_in heterozygous mutation in the SOX18 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24697860 "DO"] synonym: "cutaneous telangiectasia, sparse hair and membranoproliferative glomerulonephritis" EXACT [] synonym: "glomerulonephritis, sparse hair, telangiectases" EXACT [] synonym: "glomerulonephritis with sparse hair and telangiectases" EXACT [] synonym: "HLT-renal defect syndrome" EXACT [] synonym: "HLTRS" EXACT [] synonym: "hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome" EXACT [] synonym: "telangiectatic membranoproliferative glomerulonephritis" EXACT [] xref: MESH:C536825 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111361 ! hypotrichosis-lymphedema-telangiectasia syndrome is_a: DOID:225 ! syndrome is_a: DOID:2920 ! membranoproliferative glomerulonephritis is_a: DOID:987 ! alopecia [Term] id: DOID:0111361 name: hypotrichosis-lymphedema-telangiectasia syndrome alt_id: MIM:607823 def: "A syndrome characterized by onset at birth or early childhood of progressive hypotrichosis, lymphedema, and telangiectasia that has_material_basis_in homozygous or compound heterozygous mutation in the SOX18 gene on chromosome 20q13.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12740761 "DO"] synonym: "HLTS" EXACT [] xref: MESH:C564327 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1272 ! telangiectasis is_a: DOID:225 ! syndrome is_a: DOID:4535 ! hypotrichosis is_a: DOID:4977 ! lymphedema [Term] id: DOID:0111362 name: hawkinsinuria alt_id: DOID:9008030 alt_id: MIM:140350 def: "An amino acid metabolic disorder characterized by a defect in tyrosine metabolism with transient metabolic acidosis and tyrosinemia that improves with a phenylalanine and tyrosine restricted diet and presence of the hawksin metabolite in the urine throughout life that has_material_basis_in heterozygous mutation in HPD on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11073718 "DO"] synonym: "4-alpha-hydroxyphenylpyruvate hydroxylase deficiency" EXACT [] synonym: "4-HPPD deficiency" EXACT [] synonym: "4-hydroxyphenylpyruvic acid dioxygenase deficiency" EXACT [] xref: GARD:5668 xref: MESH:C535845 xref: ORDO:2118 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9275 ! tyrosinemia [Term] id: DOID:0111363 name: Heinz body anemia alt_id: MIM:140700 def: "A congenital nonspherocytic hemolytic anemia characterized by nonspherocytic hemolytic anemia of Dacie type I with Heinz bodies seen in erythrocytes after splenectomy that has_material_basis_in heterozygous mutation in the HBA1, HBA2 or HBB genes on chromosome 11p15.4, 16p13.3, and 16p13.3, respectively. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14184033 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3997544 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8704193 "DO"] synonym: "Heinz Body Anemias" EXACT [] synonym: "Heinz Body Hemolytic Anemia" EXACT [] synonym: "Hemoglobin Tacoma" EXACT [] xref: GARD:10718 xref: MESH:C563030 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:0111364 name: Alzheimer's disease 9 alt_id: MIM:608907 def: "An Alzheimer's disease that has_material_basis_in heterozygous mutation in the ABCA7 gene on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21460840 "DO"] synonym: "AD9" EXACT [] synonym: "Alzheimer's disease 9, late onset" EXACT [] synonym: "Alzheimer disease 9" EXACT [] synonym: "Alzheimer Disease 9, Late-Onset" EXACT [] synonym: "Alzheimer disease 9, susceptibility to" RELATED [] xref: MESH:C563834 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:0111365 name: benign familial hematuria def: "A urinary system disease characterized by the presence of blood in the urine, thinning of the glomerular basement membrane and normal renal function that has_material_basis_in heterozygous mutation in the COL4A3 gene or the COL4A4 gene on chromosome 2q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8787673 "DO"] synonym: "BFH" EXACT [] synonym: "familial hematuria" EXACT [] synonym: "MICROSCOPIC HEMATURIA" EXACT [] synonym: "Thin-Basement-Membrane Nephropathy" EXACT [] synonym: "thin membrane nephropathy" EXACT [] synonym: "TMN" EXACT [] xref: MESH:C562476 xref: MIM:PS141200 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000363 ! Hematuria [Term] id: DOID:0111366 name: familial hepatic adenoma alt_id: MIM:142330 def: "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/207987 "DO"] synonym: "familial hepatic adenomas" EXACT [] synonym: "familial liver cell adenomas" EXACT [] xref: MESH:C564190 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050868 ! hepatocellular adenoma [Term] id: DOID:0111367 name: Beukes hip dysplasia alt_id: MIM:142669 def: "An osteoarthritis characterized by bilateral dysmorphism of the proximal femur resulting in severe progressive degenerative osteoarthritis of the hip joint in early adulthood that has_material_basis_in heterozygous mutation in UFSP2 on chromosome 4q35.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26428751 "DO"] synonym: "Beukes familial hip dysplasia" EXACT [] synonym: "BFHD" EXACT [] synonym: "BHD" EXACT [] synonym: "Cilliers-Beighton syndrome" EXACT [] synonym: "Hip Dysplasia, Beukes Type" EXACT [] synonym: "premature degenerative osteoarthropathy of hip" EXACT [] synonym: "premature degenerative osteoarthropathy of the hip" EXACT [] xref: GARD:2690 xref: MESH:C564185 xref: ORDO:2114 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:8398 ! osteoarthritis is_a: DOID:9005560 ! Congenital Hip Dislocation [Term] id: DOID:0111368 name: cholesterol-ester transfer protein deficiency def: "A lipid metabolism disorder characterized by elevated levels of alpha-lipoprotein in the blood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/168823 "DO"] synonym: "CEPT deficiency" EXACT [] synonym: "CETP deficiency" EXACT [] synonym: "Cholesteryl Ester Transfer Protein Deficiency" EXACT [] synonym: "familial hyperalphalipoproteinemia" EXACT [] synonym: "hyperalphalipoproteinemia" EXACT [] xref: MESH:C564591 xref: ORDO:79506 is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:0111369 name: hyperalphalipoproteinemia 1 def: "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the CETP gene on chromosome 16q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2215607 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6738363 "DO"] synonym: "CETP deficiency" EXACT [] synonym: "HALP1" EXACT [] xref: MIM:143470 xref: NCI:C128806 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111368 ! cholesterol-ester transfer protein deficiency [Term] id: DOID:0111370 name: apolipoprotein C-III deficiency alt_id: MIM:614028 def: "A cholesterol-ester transfer protein deficiency characterized by elevated levels of alpha-lipoprotein in the blood that has_material_basis_in heterozygous mutation in the APOC3 gene on chromosome 11q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2022742 "DO"] synonym: "HALP2" EXACT [] synonym: "hyperalphalipoproteinemia 2" EXACT [] xref: MESH:C566270 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111368 ! cholesterol-ester transfer protein deficiency [Term] id: DOID:0111371 name: isolated hyperchlorhidrosis def: "A skin disease characterized by excessive loss of salt in sweat resulting in low levels of salt in the blood in the absence of other symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the CA12 gene on chromosome 15q22.2. (DO)" [https://ghr.nlm.nih.gov/condition/isolated-hyperchlorhidrosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/21184099 "DO"] synonym: "carbonic anhydrase XII deficiency" EXACT [] synonym: "HYCHL" EXACT [] xref: MIM:143860 xref: ORDO:542657 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9004062 ! Hyperhidrosis [Term] id: DOID:0111373 name: familial progressive hyperpigmentation with or without hypopigmentation alt_id: MIM:145250 def: "A skin disease characterized by progressive, diffuse hyperpigmentation of variable intensity sometimes associated with cafe-au-lait macules and larger hypopigmented ash-leaf macules that has_material_basis_in heterozygous mutation in the KITLG gene on chromosome 12q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19375057 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21368769 "DO"] synonym: "familial progressive hyperpigmentation" EXACT [] synonym: "familial progressive hyperpigmentation, 2" NARROW [] synonym: "FPH2" NARROW [] synonym: "FPHH" EXACT [] synonym: "melanosis universalis hereditaria" EXACT [] synonym: "MUH" EXACT [] xref: MESH:C564163 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9003984 ! Hyperpigmentation [Term] id: DOID:0111374 name: selective pituitary thyroid hormone resistance alt_id: MIM:145650 def: "A hyperthyroidism characterized by mild to moderate hyperthyroidism, impaired pituitary response to thyroid hormone, elevated levels of thyroid hormone, and association with thyrotoxic features that has_material_basis_in heterozygous mutation in the THRB gene on chromosome 3p24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6798060 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8040303 "DO"] synonym: "familial hyperthyroidism due to inappropriate thyrotropin secretion" EXACT [] synonym: "pituitary resistance to thyroid hormone" EXACT [] synonym: "PRTH" EXACT [] synonym: "selective pituitary resistance to thyroid hormone" EXACT [] synonym: "THRB-RELATED CONDITION" BROAD [] xref: MESH:C564154 xref: ORDO:165994 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:7998 ! hyperthyroidism [Term] id: DOID:0111375 name: fetal akinesia deformation sequence syndrome def: "A syndrome characterized by decreased fetal movements, intrauterine growth restriction, joint contractures, and developmental anomalies, including lung hypoplasia, cleft palate, and cryptorchidism that often has_material_basis_in mutation in a gene associated with the neuromuscular junction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19261599 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22482962 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30498368 "DO"] synonym: "arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome" EXACT [] synonym: "FADS" EXACT [] synonym: "fetal akinesia deformation sequence" EXACT [] synonym: "foetal akinesia deformation sequence syndrome" EXACT [] synonym: "foetal akinesia sequence" EXACT [] synonym: "Pena-Shokeir syndrome type 1" EXACT [] xref: GARD:9634 xref: MIM:PS208150 xref: NCI:C129071 xref: ORDO:994 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9008582 ! Developmental Disease [Term] id: DOID:0111376 name: fetal akinesia deformation sequence syndrome 3 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the DOK7 gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19261599 "DO"] synonym: "FADS3" EXACT [] synonym: "fetal akinesia deformation sequence 3" EXACT [] xref: MIM:618389 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111377 name: fetal akinesia deformation sequence syndrome 1 alt_id: MIM:208150 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the MUSK gene on chromosome 9q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25537362 "DO"] synonym: "arthrogryposis multiplex congenita, pulmonary hypoplasia" EXACT [] synonym: "Arthrogryposis multiplex congenita, pulmonary hypoplasia, cryptorchidism, and unusual ophthalmological findings" EXACT [] synonym: "Arthrogryposis multiplex congenita with pulmonary hypoplasia" EXACT [] synonym: "FADS1" EXACT [] synonym: "Fetal Akinesia Deformation Sequence 1" EXACT [] synonym: "Fetal akinesia sequence" EXACT [] synonym: "Lethal Pena-Shokeir 1 syndrome" EXACT [] synonym: "Pena Shokeir Syndrome, Type 1" EXACT [] synonym: "Pena-Shokeir syndrome, type I" EXACT [] synonym: "RAPSN-related disorder" BROAD [] synonym: "RAPSN-related disorders" BROAD [] xref: MESH:C536647 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111378 name: fetal akinesia deformation sequence syndrome 2 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the RAPSN gene on chromosome 11p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18179903 "DO"] synonym: "FADS2" EXACT [] synonym: "fetal akinesia deformation sequence 2" EXACT [] xref: MIM:618388 xref: MONDO:0100102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111379 name: fetal akinesia deformation sequence syndrome 4 def: "A fetal akinesia deformation sequence that has_material_basis_in homozygous or compound heterozygous mutation in the NUP88 gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30543681 "DO"] synonym: "FADS4" EXACT [] synonym: "fetal akinesia deformation sequence 4" EXACT [] xref: MIM:618393 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111375 ! fetal akinesia deformation sequence syndrome [Term] id: DOID:0111380 name: solitary median maxillary central incisor alt_id: MIM:147250 def: "A tooth disease characterized by single deciduous and parmanent maxillary central incisor that may be isolated or occur with a range of other systemic anomalies that has_material_basis_in heterozygous mutation in SHH on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11471164 "DO"] synonym: "Fused incisors" EXACT [] synonym: "Single central maxillary incisor" EXACT [] synonym: "single median maxillary central incisor" EXACT [] synonym: "single upper central incisor" EXACT [] synonym: "SMMCI" EXACT [] synonym: "SMMCI syndrome" EXACT [] synonym: "solitary median maxillary central incisor syndrome" EXACT [] xref: GARD:4877 xref: MESH:C537342 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13714 ! anodontia [Term] id: DOID:0111381 name: IVIC syndrome alt_id: MIM:147750 def: "A syndrome characterized by radial ray defect of variable severity, mixed congenital hearing loss, mild thrombocytopenia, and external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SALL4 gene on chromosome 20q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17256792 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7395922 "DO"] synonym: "Instituto Venezolano de Investigaciones Cientificas syndrome" EXACT [] synonym: "oculo-oto-radial syndrome" EXACT [] synonym: "oculootoradial syndrome" EXACT [] synonym: "OORS" EXACT [] synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [] synonym: "SALL4-RELATED DISORDER" BROAD [] synonym: "SALL4-related spectrum disorder" BROAD [] synonym: "SALL4-related spectrum disorders" BROAD [] xref: GARD:269 xref: MESH:C535544 xref: ORDO:2307 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10488 ! imperforate anus is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006380 ! Bilateral Hearing Loss [Term] id: DOID:0111382 name: ischiocoxopodopatellar syndrome alt_id: MIM:147891 def: "A dysostosis characterized by hypoplasia or aplasia of the patellas and various anomalies of the pelvis and feet that has_material_basis_in heterozygous mutation in the TBX4 gene on chromosome 17q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11303519 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15106123 "DO"] synonym: "congenital coxa vara, patella aplasia and tarsal synostosis" EXACT [] synonym: "coxopodipatellar syndrome" EXACT [] synonym: "coxo-podo-patellar syndrome" EXACT [] synonym: "coxopodopatellar syndrome" EXACT [] synonym: "ICPPS" EXACT [] synonym: "ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension" EXACT [] synonym: "ischiopatellar dysplasia" EXACT [] synonym: "patella aplasia, coxa vara, and tarsal synostosis" EXACT [] synonym: "patella aplasia, coxa vara, tarsal synostosis" EXACT [] synonym: "Scott-Taor syndrome" EXACT [] synonym: "small patella syndrome" EXACT [] synonym: "SPS" EXACT [] synonym: "TBX4-RELATED CONDITION" BROAD [] xref: GARD:3030 xref: MESH:C535540 xref: MESH:C536307 xref: ORDO:1509 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11971 ! synostosis is_a: DOID:9005226 ! Coxa Vara [Term] id: DOID:0111383 name: autosomal dominant keratitis alt_id: MIM:148190 def: "A keratitis characterized by corneal opacification and vascularization and foveal hypoplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7668281 "DO"] synonym: "dominantly inherited keratitis" EXACT [] synonym: "hereditary keratitis" EXACT [] xref: GARD:3089 xref: MESH:C537022 xref: ORDO:2334 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4677 ! keratitis [Term] id: DOID:0111384 name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in HNRPA2B1 on 7p15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23455423 "DO"] synonym: "IBMPFD2" EXACT [] synonym: "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 2" EXACT [] synonym: "MSP2" EXACT [] synonym: "MULTISYSTEM PROTEINOPATHY 2" EXACT [] xref: MIM:615422 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0111385 name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in VCP on chromosome 9p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15034582 "DO"] synonym: "IBMPFD1" EXACT [] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1" EXACT [] synonym: "MSP1" EXACT [] synonym: "multisystem proteinopathy 1" EXACT [] xref: MIM:167320 xref: NCI:C122663 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0111386 name: inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 def: "An inclusion body myopathy with Paget disease of bone and frontotemporal dementia that has_material_basis_in heterozygous mutation in the HNRNPA1 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23455423 "DO"] synonym: "IBMPFD3" EXACT [] synonym: "Inclusion Body Myopathy with Early-Onset Paget Disease with or without Frontotemporal Dementia 3" EXACT [] synonym: "MSP3" EXACT [] synonym: "MULTISYSTEM PROTEINOPATHY 3" EXACT [] xref: MIM:615424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050881 ! inclusion body myopathy with Paget disease of bone and frontotemporal dementia [Term] id: DOID:0111387 name: familial isolated hypoparathyroidism def: "A hypoparathyroidism that has_material_basis_in mutation in PTH on chromosome 6p24.2 or in the GCM2 gene on chromosome 11p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11602629 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2212001 "DO"] synonym: "FIH" EXACT [] synonym: "hypoparathyroidism, autosomal dominant" NARROW [] synonym: "hypoparathyroidism, autosomal recessive" NARROW [] xref: MESH:C537156 xref: MIM:PS146200 is_a: DOID:11199 ! hypoparathyroidism [Term] id: DOID:0111388 name: X-linked hypoparathyroidism alt_id: MIM:307700 def: "A hypoparathyroidism that has_material_basis_in mutation in a region on chromosome Xq27.1 that appears to alter expression of SOX3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14431322 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9832036 "DO"] synonym: "agenesis of parathyroid glands" EXACT [] synonym: "HYPX" EXACT [] xref: MESH:C562782 xref: MESH:C563238 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11199 ! hypoparathyroidism [Term] id: DOID:0111389 name: mucopolysaccharidosis Ih/s def: "A mucopolysaccharidosis I characterized by an intermediate severity of symptoms including short stature, corneal clouding, joint stiffening, umbilical hernia, dysostosis multiplex, hepatosplenomegaly, and little to no intellectual dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10466419 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2128891 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550242 "DO"] synonym: "MPS1H/S" EXACT [] synonym: "MPS1-HS" EXACT [] synonym: "MPSIH/S" EXACT [] synonym: "MUCOPOLYSACCHARIDOSIS, MPS-I-H/S" EXACT [] synonym: "Mucopolysaccharidosis type 1H/S" EXACT [] synonym: "Mucopolysaccharidosis Type Ih S" EXACT [] synonym: "Mucopolysaccharidosis Type Ihs" EXACT [] xref: GARD:12560 xref: ICD10CM:E76.02 xref: MIM:607015 xref: NCI:C122782 xref: ORDO:93476 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12802 ! mucopolysaccharidosis I [Term] id: DOID:0111390 name: mucopolysaccharidosis Ih alt_id: MIM:607014 def: "A mucopolysaccharidosis I characterized by a severe phenotype that includes dysostosis multiplex, cognitive impairment, heart disease, respiratory problems, corneal clouding, hepatosplenomegaly, coarse facies and reduced life expectancy that has_material_basis_in homozygous or compound heterozygous mutation in the IDUA gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3124802 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7550242 "DO"] synonym: "dysostosis multiplex" EXACT [] synonym: "dysostosis multiplex syndrome" EXACT [] synonym: "Gargoylism" EXACT [] synonym: "Gargoylisms" EXACT [] synonym: "Hurler's Disease" EXACT [] synonym: "Hurler's Syndrome" EXACT [] synonym: "Hurler Disease" EXACT [] synonym: "Hurler disease MPS type 1H" EXACT [] synonym: "Hurler Syndrome" EXACT [] synonym: "Hurler Syndrome Gargoylism" EXACT [] synonym: "L-iduronidase deficiency, Hurler type" EXACT [] synonym: "MPS1-H" EXACT [] synonym: "MPS I - Hurler syndrome" EXACT [] synonym: "Mucopolysaccharidosis Type Ih" EXACT [] synonym: "mucopolysaccharidosis type I severe form" EXACT [] synonym: "Pfaundler-Hurler syndrome" EXACT [] xref: GARD:12559 xref: ICD10CM:E76.01 xref: NCI:C61261 xref: ORDO:93473 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12802 ! mucopolysaccharidosis I [Term] id: DOID:0111391 name: mucopolysaccharidosis IVA def: "A mucopolysaccharidosis IV characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate resulting in short stature, skeletal dysplasia, dental anomalies, and corneal clouding that has_material_basis_in homozygous or compound heterozygous mutation in the GALNS gene on chromosome 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18412124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7607677 "DO"] synonym: "GALNS deficiencies" EXACT [] synonym: "GALNS Deficiency" EXACT [] synonym: "Morquio A Disease" EXACT [] synonym: "Morquio Syndrome A" EXACT [] synonym: "MPS4A" EXACT [] synonym: "MPS IV A" EXACT [] synonym: "MPS IVA" EXACT [] synonym: "MPS IV - Morquio syndrome A" EXACT [] synonym: "Mucopolysaccharidosis, MPS-IV-A" EXACT [SNOMEDCT_2005_07_31:7259005] synonym: "Mucopolysaccharidosis Type IV A" EXACT [] synonym: "mucopolysaccharidosis type IVA" EXACT [] xref: GARD:3785 xref: ICD10CM:E76.210 xref: MIM:253000 xref: NCI:C84901 xref: ORDO:309297 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12804 ! mucopolysaccharidosis IV [Term] id: DOID:0111392 name: mucopolysaccharidosis type IVB def: "A mucopolysaccharidosis IV characterized by skeletal dysplasia, corneal clouding, and increased urinary keratan sulfate excretion that has_material_basis_in homozygous or compound heterozygous mutation in the GLB1 gene on chromosome 3p22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1928092 "DO", https://www.ncbi.nlm.nih.gov/pubmed/817853 "DO"] synonym: "beta-D-galactosidase deficiency" EXACT [] synonym: "Morquio's disease Type B" EXACT [] synonym: "Morquio disease B" EXACT [] synonym: "Morquio disease type B" EXACT [] synonym: "Morquio syndrome B" EXACT [] synonym: "Morquio Syndrome, Type B" EXACT [] synonym: "MPS4B" EXACT [] synonym: "MPS IV B" EXACT [] synonym: "MPS IVB" EXACT [] synonym: "MPS IV - Morquio syndrome B" EXACT [] synonym: "Mucopolysaccharidosis 4B" EXACT [] synonym: "mucopolysaccharidosis, MPS-IV-B" EXACT [] synonym: "mucopolysaccharidosis type IV B" EXACT [] synonym: "mucopolysaccharidosis type IVB (Morquio)" EXACT [] xref: ICD10CM:E76.211 xref: MIM:253010 xref: NCI:C84902 xref: ORDO:309310 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12804 ! mucopolysaccharidosis IV [Term] id: DOID:0111393 name: mucopolysaccharidosis type IIIC def: "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the HGSNAT gene on chromosome 8p11.2-p11.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16960811 "DO"] synonym: "Acetyl-CoA alpha-glucosaminide acetyltransferase deficiency" EXACT [] synonym: "heparan-alpha-glucosaminide N-acetyltransferase deficiency" EXACT [] synonym: "HGSNAT deficiency" EXACT [] synonym: "MPS 3 C" EXACT [] synonym: "MPS3C" EXACT [] synonym: "MPS III C" EXACT [] synonym: "MPS IIIC" EXACT [] synonym: "MPSIIIC" EXACT [] synonym: "MPS IIIC - Sanfilippo syndrome C" EXACT [] synonym: "MUCOPOLYSACCHARIDOSIS, MPS-III-C" EXACT [] synonym: "Mucopolysaccharidosis Type 3 C" EXACT [] synonym: "Mucopolysaccharidosis type 3C" EXACT [] synonym: "mucopolysaccharidosis type IIIC (Sanfilippo C)" EXACT [] synonym: "Sanfilippo syndrome C" EXACT [] synonym: "Sanfilippo syndrome type C" EXACT [] xref: GARD:7073 xref: MIM:252930 xref: NCI:C84899 xref: ORDO:79271 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111394 name: mucopolysaccharidosis type IIIB def: "A mucopolysaccharidosis III characterized by neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span that has_material_basis_in homozygous or compound heterozygous mutation in NAGLU on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15933803 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8650226 "DO"] synonym: "MPS 3 B" EXACT [] synonym: "MPS3B" EXACT [] synonym: "MPS III B" EXACT [] synonym: "MPS IIIB" EXACT [] synonym: "MPSIIIB" EXACT [] synonym: "MPS IIIB - Sanfilippo syndrome B" EXACT [] synonym: "mucopolysaccharidosis IIIB" EXACT [] synonym: "mucopolysaccharidosis, MPS-III-B" EXACT [] synonym: "Mucopoly-saccharidosis type 3B" EXACT [] synonym: "Mucopolysaccharidosis Type 3 B" EXACT [] synonym: "mucopolysaccharidosis type 3B" EXACT [] synonym: "mucopolysaccharidosis type IIIB (Sanfilippo B)" EXACT [] synonym: "N-acetyl-alpha-glucosaminidase deficiency" EXACT [] synonym: "Sanfilippo syndrome B" EXACT [] synonym: "Sanfilippo syndrome type B" EXACT [] xref: GARD:7072 xref: ICD10CM:E76.22 xref: MIM:252920 xref: ORDO:79270 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111395 name: mucopolysaccharidosis type IIIA def: "A mucopolysaccharidosis III characterized by severe clinical manifestation and earlier age of onset compared to other forms of mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in the SGSH gene on chromosome 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6796310 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7493035 "DO"] synonym: "heparan sulfamidase deficiency" EXACT [] synonym: "MPS 3 A" EXACT [] synonym: "MPS3A" EXACT [] synonym: "MPS III A" EXACT [] synonym: "MPS IIIA" EXACT [] synonym: "MPSIIIA" EXACT [] synonym: "MPS IIIA - Sanfilippo syndrome A" EXACT [] synonym: "mucopolysaccharidosis III-A" EXACT [] synonym: "mucopolysaccharidosis IIIA" EXACT [] synonym: "mucopolysaccharidosis, MPS-III-A" EXACT [] synonym: "mucopolysaccharidosis type 3 A" EXACT [] synonym: "mucopolysaccharidosis type 3A" EXACT [] synonym: "mucopolysaccharidosis type 3 A Sanfilippo syndrome" EXACT [] synonym: "mucopolysaccharidosis type IIIA (Sanfilippo A)" EXACT [] synonym: "Sanfilippo syndrome A" EXACT [] synonym: "Sanfilippo syndrome type A" EXACT [] xref: MIM:252900 xref: ORDO:79269 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111396 name: congenital dyserythropoietic anemia type I def: "A congenital dyserythropoietic anemia characterized by autosomal recessive inheritance of macrocytic anemia, ineffective erythropoiesis, and secondary hemochromatosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16098079 "DO"] synonym: "CDA1" EXACT [] synonym: "CDA I" EXACT [] synonym: "CDA type 1" EXACT [] synonym: "CDA type I" EXACT [] synonym: "Congenital dyserythropoietic anaemia type 1" EXACT [] synonym: "congenital dyserythropoietic anaemia type I" EXACT [] synonym: "congenital dyserythropoietic anemia type 1" EXACT [] xref: GARD:2000 xref: MONDO:0020337 xref: ORDO:98869 is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111397 name: congenital dyserythropoietic anemia type Ib def: "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in C15orf41 on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23716552 "DO"] synonym: "CDAN1B" EXACT [] synonym: "CDA, type Ib" EXACT [] xref: MIM:615631 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111396 ! congenital dyserythropoietic anemia type I [Term] id: DOID:0111398 name: congenital dyserythropoietic anemia type Ia def: "A congenital dyserythropoietic anemia type I that has_material_basis_in homozygous or compound heterozygous mutation in the CDAN1 gene on chromosome 15q15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12434312 "DO"] synonym: "CDA Ia" EXACT [] synonym: "CDAN1A" EXACT [] synonym: "CDA type Ia" EXACT [] xref: MIM:224120 xref: MONDO:0009135 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111396 ! congenital dyserythropoietic anemia type I [Term] id: DOID:0111399 name: congenital dyserythropoietic anemia type III alt_id: MIM:105600 def: "A congenital dyserythropoietic anemia characterized by nonprogressive mild to moderate anemia, macrocytosis in the peripheral blood, and giant multinucleated erythroblasts that has_material_basis_in heterozygous mutation in an 11 cM interval within chromosome 15q21-q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7711721 "DO"] synonym: "anaemia with multinucleated erythroblasts" EXACT [] synonym: "anemia with multinucleated erythroblasts" EXACT [] synonym: "CDA III" EXACT [] synonym: "CDAN3" EXACT [] synonym: "CDAN3A" EXACT [] synonym: "CDA type 3" EXACT [] synonym: "CDA type 3A" EXACT [] synonym: "CDA type III" EXACT [] synonym: "Congenital dyserythropoietic anaemia type 3" EXACT [] synonym: "congenital dyserythropoietic anaemia type III" EXACT [] synonym: "congenital dyserythropoietic anemia type 3" EXACT [] synonym: "congenital dyserythropoietic anemia type IIIA" EXACT [] synonym: "hereditary benign erythroreticulosis" EXACT [] synonym: "KIF23-RELATED CONDITION" EXACT [] xref: GARD:2002 xref: MESH:C566285 xref: ORDO:98870 is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111400 name: congenital dyserythropoietic anemia type IV def: "A congenital dyserythropoietic anemia characterized by ineffective erythropoiesis and hemolysis resulting in anemia and abnormal erythroblast morphology that has_material_basis_in heterozygous mutation in the KLF1 gene on chromosome 19p13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21055716 "DO"] synonym: "ANEMIA, CONGENITAL, WITH HEREDITARY PERSISTENCE OF FETAL AND EMBRYONIC HEMOGLOBIN" EXACT [] synonym: "CDA due to KLF1 mutation" EXACT [] synonym: "CDA IV" EXACT [] synonym: "CDAN4" EXACT [] synonym: "CDAN4A" NARROW [] synonym: "CDAN4B" NARROW [] synonym: "CDA type 4" EXACT [] synonym: "CDA, type IV" EXACT [] synonym: "CDA, type IVa" NARROW [] synonym: "CDA, type IVb" NARROW [] synonym: "congenital dyserythropoietic anaemia due to KLF1 mutation" EXACT [] synonym: "congenital dyserythropoietic anaemia type 4" EXACT [] synonym: "congenital dyserythropoietic anaemia type IV" EXACT [] synonym: "congenital dyserythropoietic anemia due to KLF1 mutation" EXACT [] synonym: "congenital dyserythropoietic anemia, type 4" EXACT [] synonym: "congenital dyserythropoietic anemia type IVa" NARROW [] synonym: "congenital dyserythropoietic anemia type IVb" NARROW [] synonym: "KLF1-RELATED CONDITION" EXACT [] xref: MIM:613673 xref: MIM:620969 xref: MONDO:0013355 xref: NCI:C157148 xref: ORDO:293825 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111401 name: congenital dyserythropoietic anemia type II def: "A congenital dyserythropoietic anemia characterized by mild to severe anemia, bi- and multinucleated erythroblasts in bone marrow, jaundice and splenomegaly and may lead to liver iron overload and gallstones that has_material_basis_in homozygous or compound heterozygous mutation in the SEC23B gene on chromosome 20p11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19561605 "DO"] synonym: "CDA II" EXACT [] synonym: "CDAN2" EXACT [] synonym: "CDA type 2" EXACT [] synonym: "CDA type II" EXACT [] synonym: "congenital dyserythropoietic anaemia type 2" EXACT [] synonym: "congenital dyserythropoietic anaemia type II" EXACT [] synonym: "congenital dyserythropoietic anemia, type 2" EXACT [] synonym: "Dyserythropoietic Anemia, HEMPAS Type" EXACT [] synonym: "HEMPAS" EXACT [] synonym: "HEMPAS anemia" EXACT [] synonym: "HEMPAS anemias" EXACT [] synonym: "hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)" EXACT [] synonym: "hereditary erythroblastic multinuclearity with positive acidified-serum test" EXACT [] synonym: "hereditary erythroblast multinuclearity with positive acidified serum" EXACT [] synonym: "SEC23B-CDG" EXACT [] xref: GARD:2001 xref: MIM:224100 xref: NCI:C175991 xref: ORDO:98873 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1338 ! congenital dyserythropoietic anemia [Term] id: DOID:0111402 name: mucopolysaccharidosis type IIID def: "A mucopolysaccharidosis III that has_material_basis_in homozygous or compound heterozygous mutation in GNS on chromosome 12q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12573255 "DO"] synonym: "GNS deficiency" EXACT [] synonym: "MPS 3 D" EXACT [] synonym: "MPS3D" EXACT [] synonym: "MPS III D" EXACT [] synonym: "MPS IIID" EXACT [] synonym: "MPS IIID - Sanfilippo syndrome D" EXACT [] synonym: "MUCOPOLYSACCHARIDOSIS, MPS-III-D" EXACT [] synonym: "Mucopolysaccharidosis type 3D" EXACT [] synonym: "mucopolysaccharidosis type 3 D" EXACT [] synonym: "N-acetylglucosamine-6-sulfatase deficiencies" EXACT [] synonym: "N-acetylglucosamine-6-sulfatase deficiency" EXACT [] synonym: "N-acetylglucosamine-6-sulfate sulfatase deficiencies" EXACT [] synonym: "N acetylglucosamine 6 sulfate sulfatase deficiency" EXACT [] synonym: "Sanfilippo syndrome D" EXACT [] synonym: "Sanfilippo syndrome type D" EXACT [] xref: GARD:7074 xref: MIM:252940 xref: NCI:C84900 xref: ORDO:79272 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12801 ! mucopolysaccharidosis III [Term] id: DOID:0111403 name: mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations def: "A syndromic intellectual disability characterized by global developmental delay, impaired intellectual development, and characteristic brain abnormalities that has_material_basis_in heterozygous mutation in the MAST1 gene on chromosome 19p13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30449657 "DO"] synonym: "MAST1-RELATED CONDITION" EXACT [] synonym: "MCCCHCM" EXACT [] xref: MIM:618273 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability created_by: rgd creation_date: 2017-10-18T11:02:58Z [Term] id: DOID:0111404 name: Jalili syndrome alt_id: MIM:217080 def: "A syndrome characterized by amelogenesis imperfecta and cone-rod retinal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in CNNM4 on chromosome 2q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19200527 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3236352 "DO"] synonym: "cone rod dystrophy-amelogenesis imperfecta syndrome" EXACT [] synonym: "cone-rod dystrophy and amelogenesis imperfecta" EXACT [] xref: GARD:1463 xref: MESH:C000596385 xref: ORDO:1873 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:225 ! syndrome [Term] id: DOID:0111405 name: Fraser syndrome 1 def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FRAS1 gene on chromosome 4q21.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12766769 "DO"] synonym: "CRYPTOPHTHALMOS SYNDROME" EXACT [] synonym: "FRAS1-RELATED CONDITION" EXACT [] synonym: "FRASRS1" EXACT [] xref: MIM:219000 is_a: DOID:0090001 ! Fraser syndrome [Term] id: DOID:0111406 name: Fraser syndrome 3 def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the GRIP1 gene on chromosome 12q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22510445 "DO"] synonym: "FRASRS3" EXACT [] xref: MIM:617667 is_a: DOID:0090001 ! Fraser syndrome [Term] id: DOID:0111407 name: Fraser syndrome 2 def: "A Fraser syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the FREM2 gene on chromosome 13q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15838507 "DO"] synonym: "FRASRS2" EXACT [] synonym: "FREM2-RELATED CONDITION" BROAD [] xref: MIM:617666 is_a: DOID:0090001 ! Fraser syndrome [Term] id: DOID:0111408 name: exudative vitreoretinopathy 5 alt_id: MIM:613310 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20159111 "DO"] synonym: "EVR5" EXACT [] synonym: "TSPAN12-RELATED CONDITION" EXACT [] xref: MESH:C567648 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111409 name: exudative vitreoretinopathy 3 alt_id: MIM:605750 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11179025 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15665352 "DO"] synonym: "EVR3" EXACT [] xref: MESH:C565297 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111410 name: exudative vitreoretinopathy 6 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23716654 "DO"] synonym: "EVR6" EXACT [] xref: MIM:616468 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111411 name: exudative vitreoretinopathy 4 def: "An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15024691 "DO"] synonym: "EVR4" EXACT [] synonym: "exudative vitreoretinopathy 4, autosomal dominant" NARROW [] synonym: "exudative vitreoretinopathy 4, autosomal recessive" NARROW [] synonym: "exudative vitreoretinopathy 4, digenic" NARROW [] xref: MESH:C566619 xref: MIM:601813 xref: MONDO:0011151 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050739 ! autosomal genetic disease [Term] id: DOID:0111412 name: exudative vitreoretinopathy 1 alt_id: MIM:133780 def: "An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12172548 "DO"] synonym: "Criswick-Schepens syndrome" EXACT [] synonym: "EVR1" EXACT [] synonym: "familial exudative vitreoretinopathy, autosomal dominant" EXACT [] synonym: "FEVR, autosomal dominant" EXACT [] synonym: "retinopathy of prematurity" NARROW [] synonym: "ROP" NARROW [] xref: MESH:C536382 xref: MONDO:0007589 xref: NCI:C175048 xref: ORDO:90050 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111413 name: X-linked exudative vitreoretinopathy 2 alt_id: MIM:305390 def: "An exudative vitreoretinopathy that has_material_basis_in mutation in NDP on chromosome Xp11.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8252044 "DO"] synonym: "EVR2" EXACT [] synonym: "EVRX" EXACT [] synonym: "familial exudative vitreoretinopathy, 2" EXACT [] synonym: "familial exudative vitreoretinopathy, X-linked recessive" EXACT [] synonym: "FEVRX" EXACT [] synonym: "FEVR, X-Linked" EXACT [] synonym: "X-linked exudative vitreoretinopathy" EXACT [] xref: MESH:C564428 is_a: DOID:0050535 ! exudative vitreoretinopathy is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:0111414 name: trichohepatoenteric syndrome def: "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28944135 "DO"] synonym: "fatal infantile diarrhea with trichorrhexis nodosa" EXACT [] synonym: "phenotypic diarrhea" EXACT [] synonym: "SD/THE" EXACT [] synonym: "syndromic diarrhea" EXACT [] synonym: "syndromic diarrhea/tricho-hepato-enteric syndrome" EXACT [] synonym: "THES" EXACT [] synonym: "THE syndrome" EXACT [] synonym: "tricho-hepato-enteric syndrome" EXACT [] xref: GARD:5258 xref: MESH:C565627 xref: MIM:PS222470 xref: ORDO:84064 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:9001487 ! Facies is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9007847 ! Infantile Diarrhea [Term] id: DOID:0111415 name: trichohepatoenteric syndrome 1 def: "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TTC37 gene on chromosome 5q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20176027 "DO"] synonym: "SKIC3-RELATED CONDITION" EXACT [] synonym: "THES1" EXACT [] xref: MIM:222470 is_a: DOID:0111414 ! trichohepatoenteric syndrome [Term] id: DOID:0111416 name: trichohepatoenteric syndrome 2 def: "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22444670 "DO"] synonym: "SKIC2-RELATED CONDITION" EXACT [] synonym: "THES2" EXACT [] xref: MIM:614602 is_a: DOID:0111414 ! trichohepatoenteric syndrome [Term] id: DOID:0111417 name: familial chylomicronemia syndrome def: "A familial hyperlipidemia characterized by hypertriglyceridemia and fasting chylomicronemia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23525082 "DO"] xref: ORDO:444490 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:0111418 name: familial apolipoprotein C-II deficiency def: "A familial chylomicronemia syndrome characterized by onset in adolescence or adulthood of hypertriglyceridemia and fasting chylomicronemia that has_material_basis_in homozygous or compound heterozygous mutation in the APOC2 gene on chromosome 19q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3467353 "DO"] synonym: "APOC2 DEFICIENCY" EXACT [] synonym: "Apolipoprotein C-II Deficiencies" EXACT [] synonym: "Apolipoprotein C II Deficiency" EXACT [] synonym: "familial APOC2 deficiency" EXACT [] synonym: "familial apoC-II deficiency" EXACT [] synonym: "hyperlipoproteinemia, type 1b" EXACT [] synonym: "Hyperlipoproteinemia Type Ib" EXACT [] synonym: "Type Ib Hyperlipoproteinemias" EXACT [] xref: MIM:207750 xref: ORDO:309020 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111419 name: familial chylomicronemia due to inhibition of lipoprotein lipase activity alt_id: MIM:118830 def: "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, very low levels of postheparin plasma lipolytic activity, presence in the circulation of a lipoprotein lipase inhibitor, and elevated adipose levels of lipoprotien lipase. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6833877 "DO"] synonym: "familial chylomicronemia due to circulating inhibitor of lipoprotein lipase" EXACT [] synonym: "hyperlipoproteinemia type 1C" EXACT [] synonym: "hyperlipoproteinemia type IC" EXACT [] xref: MESH:C566126 is_a: DOID:0111417 ! familial chylomicronemia syndrome is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:0111420 name: familial GPIHBP1 deficiency def: "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17883852 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23525082 "DO"] synonym: "familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency" EXACT [] synonym: "hyperlipoproteinemia type 1D" EXACT [] synonym: "hyperlipoproteinemia type ID" EXACT [] xref: MIM:615947 xref: ORDO:535458 is_a: DOID:0111417 ! familial chylomicronemia syndrome is_a: DOID:14118 ! familial lipoprotein lipase deficiency is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:0111421 name: familial apolipoprotein A5 deficiency def: "A familial chylomicronemia syndrome characterized by hyperchylomicronemia, elevated levels of very low density lipoprotein, and decreased LDL and HDL levels after fasting that has_material_basis_in heterozygous mutation in the APOA5 gene on chromosome 11q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16200213 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23525082 "DO"] synonym: "familial APOA5 deficiency" EXACT [] synonym: "familial apolipoprotein A-V deficiency" EXACT [] xref: MIM:144650 xref: ORDO:530849 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111422 name: familial lipase maturation factor 1 deficiency alt_id: MIM:246650 def: "A familial chylomicronemia syndrome characterized by hypertriglyceridemia, chylomicronemia, and decreased lipase activity that has_material_basis_in homozygous mutation in the LMF1 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17994020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23525082 "DO"] synonym: "combined lipase deficiency" EXACT [] synonym: "familial LMF1 deficiency" EXACT [] synonym: "Lipoprotein lipase deficiency with hepatic triglyceride lipase deficiency" EXACT [] synonym: "LMF1-RELATED CONDITION" EXACT [] synonym: "Lpl And Hl Deficiency" EXACT [] synonym: "Lpl And Htgl Deficiency" EXACT [] xref: MESH:C535904 xref: NCI:C126558 xref: ORDO:535453 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111417 ! familial chylomicronemia syndrome [Term] id: DOID:0111423 name: branchiootorenal syndrome 1 def: "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9020840 "DO"] synonym: "BOR1" EXACT [] xref: MIM:113650 xref: MONDO:0007236 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:0111424 name: branchiootorenal syndrome 2 def: "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17357085 "DO"] synonym: "BOR2" EXACT [] synonym: "SIX5-RELATED CONDITION" EXACT [] xref: MIM:610896 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:0111425 name: restrictive cardiomyopathy 1 def: "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNI3 gene on chromosome 19q13.42. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12531876 "DO"] synonym: "familial restrictive cardiomyopathy 1" EXACT [] synonym: "RCM1" EXACT [] xref: MESH:C566168 xref: MIM:115210 xref: MONDO:0007270 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0111426 name: restrictive cardiomyopathy 2 alt_id: MIM:609578 def: "A restrictive cardiomyopathy that has_material_basis_in variation in a region on chromosome 10q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16061566 "DO"] synonym: "familial restrictive cardiomyopathy 2" EXACT [] synonym: "RCM2" EXACT [] xref: MESH:C566512 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0111427 name: restrictive cardiomyopathy 3 alt_id: MIM:612422 def: "A restrictive cardiomyopathy that has_material_basis_in heterozygous mutation in the TNNT2 gene on chromosome 1q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16651346 "DO"] synonym: "familial restrictive cardiomyopathy 3" EXACT [] synonym: "RCM3" EXACT [] xref: MESH:C567316 is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:0111428 name: essential tremor 1 alt_id: MIM:190300 def: "An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16650084 "DO"] synonym: "ETM1" EXACT [] synonym: "familial essential tremor 1" EXACT [] synonym: "FET1" EXACT [] synonym: "HAND TREMOR" NARROW [] synonym: "Hereditary Essential Tremor, 1" EXACT [] xref: MESH:C536545 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111429 name: essential tremor 2 alt_id: MIM:602134 def: "An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9399207 "DO"] synonym: "ETM2" EXACT [] synonym: "hereditary essential tremor 2" EXACT [] xref: MESH:C536546 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111430 name: essential tremor 3 alt_id: MIM:611456 def: "An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16702189 "DO"] synonym: "ETM3" EXACT [] synonym: "hereditary essential tremor 3" EXACT [] xref: MESH:C566949 is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111431 name: essential tremor 4 def: "An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22863194 "DO"] synonym: "ETM4" EXACT [] synonym: "FUS-RELATED CONDITION" BROAD [] synonym: "hereditary essential tremor 4" EXACT [] xref: MIM:614782 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111432 name: essential tremor 5 def: "An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26188006 "DO"] synonym: "ETM5" EXACT [] synonym: "hereditary essential tremor 5" EXACT [] xref: MIM:616736 xref: MONDO:0014756 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4990 ! essential tremor [Term] id: DOID:0111433 name: optic atrophy 3 alt_id: MIM:165300 def: "An optic atrophy characterized by optic atrophy and cataract that has_material_basis_in heterozygous mutation in the OPA3 gene on chromosome 19q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15342707 "DO"] synonym: "ADOAC" EXACT [] synonym: "autosomal dominant optic atrophy type 3" EXACT [] synonym: "OPA3" EXACT [] synonym: "OPA3, autosomal dominant" EXACT [] synonym: "optic atrophy 3, autosomal dominant" EXACT [] synonym: "optic atrophy 3 with cataract" EXACT [] synonym: "optic atrophy and cataract, autosomal dominant" EXACT [] synonym: "optic atrophy, cataract, and neurologic disorder" EXACT [] xref: GARD:10203 xref: MESH:C537128 xref: ORDO:67036 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:83 ! cataract is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111434 name: optic atrophy 10 def: "An optic atrophy characterized by early-onset optic neuropathy and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the RTN4IP1 gene on chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26593267 "DO"] synonym: "OPA10" EXACT [] synonym: "optic atrophy 10 with or without ataxia, impaired intellectual development and seizures" EXACT [] synonym: "optic atrophy 10 with or without ataxia, mental retardation, and seizures" EXACT [] synonym: "RTN4IP1-RELATED CONDITION" EXACT [] xref: MIM:616732 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:9004866 ! Ataxia is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111435 name: optic atrophy 6 alt_id: MIM:258500 def: "An optic atrophy characterized by early onset of slowly progressive isolated optic atrophy that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 8q21-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14508503 "DO"] synonym: "OPA6" EXACT [] synonym: "Optic atrophy, congenital or early infantile, autosomal recessive" EXACT [] xref: MESH:C537127 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111436 name: optic atrophy 11 def: "An optic atrophy characterized by delayed psychomotor development, intellectual disability, ataxia, optic atrophy, and leukoencephalopathy consistent with mitochondrial dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the YME1L1 gene on chromosome 10p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27495975 "DO"] synonym: "OPA11" EXACT [] xref: MIM:617302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111437 name: optic atrophy 7 alt_id: MIM:612989 def: "An optic atrophy characterized by juvenile onset, severe bilateral deficiency in visual acuity, optic disc pallor, and central scotoma that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126A gene on chromosome 11q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19327736 "DO"] synonym: "OPA7" EXACT [] synonym: "optic atrophy 7 with or without auditory neuropathy" EXACT [] xref: MESH:C567833 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111438 name: optic atrophy 5 alt_id: MIM:610708 def: "An optic atrophy characterized by degeneration of retinal ganglion cells resulting in slowly progressive visual loss with variable onset from the first to third decades that has_material_basis_in heterozygous of mutation in DNM1L on chromosome 12p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28969390 "DO"] synonym: "DNM1L-RELATED DISORDERS" BROAD [] synonym: "OPA5" EXACT [] xref: MESH:C537126 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111439 name: optic atrophy 8 def: "An optic atrophy characterized by progressive visual loss during the first or second decade of life that has_material_basis_in heterozygous mutation in a region on chromosome 16q21-q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21349918 "DO"] synonym: "OPA8" EXACT [] xref: MIM:616648 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111440 name: optic atrophy 4 alt_id: MIM:605293 def: "An optic atrophy that has_material_basis_in heterozygous mutation in a region on chromosome 18q12.2-q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369594 "DO"] synonym: "OPA4" EXACT [] xref: MESH:C565343 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111441 name: optic atrophy 1 alt_id: MIM:165500 def: "An optic atrophy characterized by early childhood onset of visual impairment, temporal optic disc pallor, color vision deficits, and centrocecal scotoma of variable density that has_material_basis_in heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11017079 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11017080 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9514489 "DO"] synonym: "autosomal dominant optic atrophy Kjer type" EXACT [] synonym: "dominant optic atrophies" EXACT [] synonym: "Dominant Optic Atrophy" EXACT [] synonym: "hereditary optic atrophy, autosomal dominant" EXACT [] synonym: "hereditary optic atrophy, dominant" EXACT [] synonym: "Juvenile Optic Atrophies" EXACT [] synonym: "Juvenile Optic Atrophy" EXACT [] synonym: "Kjer's Optic Atrophy" EXACT [] synonym: "Kjer Optic Atrophy" EXACT [] synonym: "Kjers Optic Atrophy" EXACT [] synonym: "Kjer-Type Optic Atrophies" EXACT [] synonym: "Kjer Type Optic Atrophy" EXACT [] synonym: "OAK" EXACT [] synonym: "OPA1" EXACT [] synonym: "optic atrophy, autosomal dominant" EXACT [] synonym: "optic atrophy type 1" EXACT [] xref: MESH:D029241 xref: NCI:C169000 xref: NCI:C84577 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111442 name: optic atrophy 9 def: "An optic atrophy characterized by early childhood onset of decreased visual acuity and pallor of the optic discs, severely reduced visual acuity, paracentral scotoma, red-green dyschromatopsia, and temporal optic atrophy at the fundus that has_material_basis_in homozygous or compound heterozygous mutation in the ACO2 gene on chromosome 22q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25351951 "DO"] synonym: "ACO2-RELATED CONDITION" BROAD [] synonym: "ACO2-RELATED DISORDER" BROAD [] synonym: "OPA9" EXACT [] synonym: "OPTIC ATROPHY 9, AUTOSOMAL RECESSIVE" NARROW [] xref: MIM:616289 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111443 name: optic atrophy 2 alt_id: MIM:311050 def: "An optic atrophy that has_material_basis_in variation in a region on chromosome Xp11.4-p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9382106 "DO"] synonym: "OPA2" EXACT [] synonym: "OPTIC ATROPHY, NON-LEBER TYPE, WITH EARLY ONSET" EXACT [] synonym: "X-linked optic atrophy" EXACT [] synonym: "X-linked optic atrophy 2" EXACT [] xref: MESH:C537125 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:0111444 name: progressive myoclonus epilepsy 4 def: "A progressive myoclonus epilepsy characterized by progressive myoclonic epilepsy often associated with renal failure that has_material_basis_in homozygous or compound heterozygous of mutation in the SCARB2 gene on chromosome 4q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15364701 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19847901 "DO"] synonym: "action myoclonus-renal failure syndrome" EXACT [] synonym: "AMRF" EXACT [] synonym: "EPM4" EXACT [] synonym: "myoclonus nephropathy syndrome" EXACT [] synonym: "myoclonus-nephropathy syndromes" EXACT [] synonym: "progressive myoclonic epilepsy 4" EXACT [] synonym: "progressive myoclonic epilepsy 4, with or without renal failure" EXACT [] xref: MIM:254900 xref: ORDO:163696 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1074 ! kidney failure is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111445 name: progressive myoclonus epilepsy 10 def: "A progressive myoclonus epilepsy characterized by onset of progressive myoclonus, ataxia, spasticity, dysarthria, and cognitive decline in the first decade of life that has_material_basis_in homozygous or compoud heterozygous mutation in the PRDM8 gene on chromosome 4q21.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22961547 "DO"] synonym: "early-onset Lafora body disease" EXACT [] synonym: "EPM10" EXACT [] synonym: "progressive myoclonic epilepsy 10" EXACT [] xref: GARD:17482 xref: MIM:616640 xref: MONDO:0014717 xref: ORDO:324290 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111446 name: progressive myoclonus epilepsy 3 alt_id: MIM:611726 def: "A progressive myoclonus epilepsy characterized by onset of intractable myoclonic seizures before age 2 years and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the KCTD7 gene on chromosome 7q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17455289 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22748208 "DO"] synonym: "CLN14" EXACT [] synonym: "CLN14 disease" EXACT [] synonym: "EPILEPSY, PROGRESSIVE MYOCLONIC 3, WITH INTRACELLULAR INCLUSIONS" NARROW [] synonym: "Epilepsy, Progressive Myoclonic, 3, with or without Intracellular Inclusions" EXACT [] synonym: "EPM3" EXACT [] synonym: "neuronal ceroid lipofuscinosis 14" EXACT [] synonym: "PME type 3" EXACT [] synonym: "Progressive Myoclonic Epilepsy 3" EXACT [] synonym: "Progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [] synonym: "progressive myoclonus epilepsy type 3" EXACT [] xref: GARD:2167 xref: MESH:C567095 xref: ORDO:263516 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111447 name: progressive myoclonus epilepsy 7 def: "A progressive myoclonus epilepsy characterized by onset of severe progressive myoclonus and infrequent tonic-clonic seizures in the first or second decades of life that has_material_basis_in heterozygous mutation in the KCNC1 gene on chromosome 11p15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25401298 "DO"] synonym: "EPM7" EXACT [] synonym: "KCNC1-RELATED CONDITION" EXACT [] synonym: "MEAK" EXACT [] synonym: "myoclonus epilepsy and ataxia due to potassium channel mutation" EXACT [] synonym: "PME type 7" EXACT [] synonym: "progressive myoclonic epilepsy 7" EXACT [] synonym: "Progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [] synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7" EXACT [] synonym: "progressive myoclonus epilepsy type 7" EXACT [] xref: MIM:616187 xref: NCI:C142804 xref: ORDO:435438 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111448 name: progressive myoclonus epilepsy 1B def: "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PRICKLE1 gene on chromosome 12q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18976727 "DO"] synonym: "Epilepsy, progressive myoclonic 1B" EXACT [] synonym: "EPM1B" EXACT [] synonym: "Pme with Ataxia" EXACT [] synonym: "PRICKLE1-related progressive myoclonic epilepsy with ataxia" EXACT [] synonym: "PRICKLE1-related progressive myoclonus epilepsy with ataxia" EXACT [] synonym: "progressive myoclonus epilepsy with ataxia" EXACT [] xref: MESH:C580388 xref: MIM:612437 xref: MONDO:0012904 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3535 ! Unverricht-Lundborg syndrome is_a: DOID:9004866 ! Ataxia [Term] id: DOID:0111449 name: progressive myoclonus epilepsy 6 def: "A progressive myoclonus epilepsy characterized by onset of ataxia in the first years of life, followed by action myoclonus and seizures later in childhood, and loss of independent ambulation in the second decade that has_material_basis_in homozygous or compound heterozygous mutation in the GOSR2 gene on chromosome 17q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21549339 "DO"] synonym: "EPM6" EXACT [] synonym: "GOSR2-related progressive myoclonus ataxia" EXACT [] synonym: "North Sea progressive myoclonus epilepsy" EXACT [] synonym: "PME type 6" EXACT [] synonym: "progressive myoclonic epilepsy 6" EXACT [] synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6" EXACT [] synonym: "progressive myoclonus epilepsy type 6" EXACT [] xref: GARD:3872 xref: MIM:614018 xref: ORDO:280620 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111450 name: progressive myoclonus epilepsy 9 def: "A progressive myoclonus epilepsy characterized by childhood-onset severe myoclonic and tonic-clonic seizures and early-onset ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the LMNB2 gene on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25954030 "DO"] synonym: "EMP9" EXACT [] synonym: "EPM9" EXACT [] synonym: "PME type 9" EXACT [] synonym: "progressive myoclonic epilepsy 9" EXACT [] synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT [] synonym: "progressive myoclonic epilepsy type 9" EXACT [] synonym: "progressive myoclonus epilepsy type 9" EXACT [] xref: MIM:616540 xref: ORDO:457265 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111451 name: progressive myoclonus epilepsy 8 def: "A progressive myoclonus epilepsy characterized by childhood to adolescent-onset of action myoclonus, generalized tonic-clonic seizures, and slowly progressive, moderate to severe cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in CERS1 on chromosome 19p13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19243074 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24782409 "DO"] synonym: "EMP8" EXACT [] synonym: "EPM8" EXACT [] synonym: "PME type 8" EXACT [] synonym: "progressive myoclonic epilepsy 8" EXACT [] synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [] synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 8" EXACT [] synonym: "progressive myoclonus epilepsy type 8" EXACT [] xref: MIM:616230 xref: ORDO:424027 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:0111452 name: progressive myoclonus epilepsy 1A def: "An Unverricht-Lundborg syndrome that has_material_basis_in homozygous or compound heterozygous in the CSTB gene on chromosome 21q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8596935 "DO"] synonym: "EPM1A" EXACT [] xref: MIM:254800 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3535 ! Unverricht-Lundborg syndrome [Term] id: DOID:0111453 name: 2-aminoadipic 2-oxoadipic aciduria def: "An amino acid metabolic disorder characterized by defects in L-lysine degradation resulting in variable neurological symptoms but in many cases patients are asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the DHTKD1 gene on chromosome 10p14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23141293 "DO"] synonym: "2-ketoadipic aciduria" EXACT [] synonym: "AAKAD" EXACT [] synonym: "alpha-aminoadipic aciduria" EXACT [] synonym: "alpha-aminoadipic and alpha-ketoadipic aciduria" EXACT [] synonym: "aminoadipic aciduria" EXACT [] synonym: "AMOXAD" EXACT [] synonym: "DHTKD1-RELATED CONDITION" BROAD [] xref: MIM:204750 xref: ORDO:79154 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111454 name: SHORT syndrome alt_id: MIM:269880 def: "A syndrome of multiple anomalies whose name stands for short stature, hyperextensibility of joints, ocular depression, Rieger anomaly and teething delay which, along with mild intrauterine growth restriction, partial lipodystrophy, delayed bone age, hernias and progeroid appearance, that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay "DO", https://www.ncbi.nlm.nih.gov/pubmed/23810382 "DO"] synonym: "Aarskog-Ose-Pande syndrome" EXACT [] synonym: "lipodystrophy-Rieger anomaly-diabetes syndrome" EXACT [] synonym: "partial lipodystrophy with Rieger anomaly and short stature" EXACT [] synonym: "Rieger anomaly-partial lipodystrophy syndrome" EXACT [] synonym: "short stature, hyperextensibility, hernia, ocular depression, rieger anomaly, and teething delay" EXACT [] xref: GARD:7633 xref: MESH:C537327 xref: ORDO:3163 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12678 ! hypercalcemia is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0111455 name: GRACILE syndrome alt_id: MIM:603358 def: "A mitochondrial disorder characterized by fetal growth restriction, aminoaciduria, cholestasis, iron overload, lactocidosis, and early death that has_material_basis_in homozygous or compound heterozygous mutation in the BCS1L gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12215968 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9482441 "DO"] synonym: "BCS1L-related disorder" BROAD [] synonym: "Fellman disease" EXACT [] synonym: "Fellman syndrome" EXACT [] synonym: "Finnish lactic acidosis with hepatic hemosiderosis" EXACT [] synonym: "Finnish Lethal Neonatal Metabolic Syndrome" EXACT [] synonym: "FLNMS" EXACT [] synonym: "growth delay-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [] synonym: "growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome" EXACT [] synonym: "growth retardation, amino aciduria, cholestasis, iron overload, lactic acidosis, and early death" EXACT [] synonym: "neonatal lactic acidosis" NARROW [] xref: GARD:1 xref: MESH:C537934 xref: MONDO:0011308 xref: ORDO:53693 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12119 ! hemosiderosis is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome is_a: DOID:3650 ! lactic acidosis is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002207 ! Renal Aminoacidurias is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:0111456 name: Kaufman oculocerebrofacial syndrome alt_id: MIM:244450 def: "A syndromic intellectual disability characterized by developmental delay, growth retardation with a small head circumference, facial dysmorphisms, and low cholesterol levels that has_material_basis_in homozygous or compound heterozygous mutation in the UBE3B gene on chromosome 12q24.11. (DO)" [https://ghr.nlm.nih.gov/condition/kaufman-oculocerebrofacial-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23200864 "DO"] synonym: "blepharophimosis-ptosis-intellectual disability syndrome" EXACT [] synonym: "blepharophimosis-ptosis-mental retardation syndrome" EXACT [] synonym: "BPIDS" EXACT [] synonym: "BPID syndrome" EXACT [] synonym: "KOS" EXACT [] synonym: "oculocerebrofacial syndrome, Kaufman type" EXACT [] xref: GARD:3084 xref: MESH:C537013 xref: ORDO:2707 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:10348 ! blepharophimosis is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:0111457 name: STING-associated vasculopathy with onset in infancy def: "An autoimmune disease of the cardiovascular system characterized by onset in infancy of autoinflammatory vasculopathy causing severe skin lesions, particularly affecting the face, ears, nose, and digits, and resulting in ulceration, eschar formation, necrosis, and, in some cases, amputation that has_material_basis_in heterozygous gain of function mutation in the TMEM173 gene on chromosome 5q31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25029335 "DO"] synonym: "SAVI" EXACT [] synonym: "STING-associated vasculopathy, infantile-onset" EXACT [] xref: GARD:12357 xref: MIM:615934 xref: NCI:C177547 xref: ORDO:425120 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:178 ! vascular disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:0111458 name: galactose epimerase deficiency def: "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALE gene on chromosome 1p36.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8593531 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9700591 "DO"] synonym: "epimerase deficiency galactosemia" EXACT [] synonym: "epimerase deficiency galactosemias" EXACT [] synonym: "GALAC3" EXACT [] synonym: "galactose epimerase deficiencies" EXACT [] synonym: "Galactosemia 3" EXACT [] synonym: "Galactosemia III" EXACT [] synonym: "galactosemia type 3" EXACT [] synonym: "GALE-D" EXACT [] synonym: "GALE Deficiencies" EXACT [] synonym: "GALE Deficiency" EXACT [] synonym: "UDP-Galactose-4-Epimerase Deficiencies" EXACT [] synonym: "UDP Galactose 4 Epimerase Deficiency" EXACT [] synonym: "UDP Galactose 4 Epimerase Deficiency Disease" EXACT [] synonym: "UDP-galactose-4-epimerase deficiency diseases" EXACT [] synonym: "UDPglucose-4-epimerase deficiency" EXACT [] synonym: "UDPglucose-4-epimerase deficiency disease" EXACT [] synonym: "uridine diphosphate galactose-4-epimerase deficiency" EXACT [] xref: GARD:5392 xref: MIM:230350 xref: ORDO:79238 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9870 ! galactosemia [Term] id: DOID:0111459 name: classic galactosemia def: "A galactosemia that has_material_basis_in homozygous or compound heterozygous mutation in the GALT gene on chromosome 9p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11261429 "DO"] synonym: "classic galactosemias" EXACT [] synonym: "GALAC1" EXACT [] synonym: "Galactose-1-Phosphate Uridyltransferase Deficiencies" EXACT [] synonym: "Galactose 1 Phosphate Uridyltransferase Deficiency" EXACT [] synonym: "Galactose 1 Phosphate Uridyl Transferase Deficiency Disease" EXACT [] synonym: "Galactose 1 Phosphate Uridylyltransferase Deficiency" EXACT [] synonym: "galactosemia I" EXACT [] synonym: "galactosemia type 1" EXACT [] synonym: "GALT deficiencies" EXACT [] synonym: "GALT deficiency" EXACT [] synonym: "GALT-RELATED CONDITION" EXACT [] xref: GARD:13639 xref: MIM:230400 xref: NCI:C99104 xref: ORDO:79239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9870 ! galactosemia [Term] id: DOID:0111460 name: cardiofaciocutaneous syndrome 1 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the BRAF gene on chromosome 7q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16474404 "DO"] synonym: "CFC1" EXACT [] xref: MIM:115150 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111461 name: cardiofaciocutaneous syndrome 2 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the KRAS gene on chromosome 12p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16474404 "DO"] synonym: "CFC2" EXACT [] xref: MIM:615278 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111462 name: cardiofaciocutaneous syndrome 3 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16439621 "DO"] synonym: "CFC3" EXACT [] synonym: "MAP2K1-RELATED DISORDER" BROAD [] xref: MIM:615279 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111463 name: cardiofaciocutaneous syndrome 4 def: "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAPK2K2 gene on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20358587 "DO"] synonym: "CFC4" EXACT [] synonym: "MAP2K2-RELATED CONDITION" EXACT [] xref: MIM:615280 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060233 ! cardiofaciocutaneous syndrome [Term] id: DOID:0111464 name: combined oxidative phosphorylation deficiency 35 def: "A combined oxidative phosphorylation deficiency characterized by global developmental delay with intellectual disability, microcephaly, and early-onset seizures that has_material_basis_in homozygous or compound heterozygous mutation in the TRIT1 gene on chromosome 1p34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24901367 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28185376 "DO"] synonym: "COXPD35" EXACT [] synonym: "TRIT1 DEFICIENCY" EXACT [] xref: MIM:617873 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111465 name: combined oxidative phosphorylation deficiency 21 def: "A combined oxidative phosphorylation deficiency characterized by axial hypotonia, limb hypertonia, psychomotor delay, and hyperlactatemia that has_material_basis_in homozygous or compound heterozygous mutation in the TARS2 gene on chromosome 1q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24827421 "DO"] synonym: "COXPD21" EXACT [] xref: EFO:0009032 xref: MIM:615918 xref: MONDO:0014398 xref: ORDO:420733 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111466 name: combined oxidative phosphorylation deficiency 38 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS14 gene on chromosome 1q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30358850 "DO"] synonym: "COXPD38" EXACT [] xref: MIM:618378 xref: MONDO:0032712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: rgd creation_date: 2018-02-07T15:36:47Z [Term] id: DOID:0111467 name: combined oxidative phosphorylation deficiency 13 def: "A combined oxidative phosphorylation deficiency characterized by development of severe neurological impairment in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the PNPT1 gene on chromosome 2p16.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23084291 "DO"] synonym: "COXPD13" EXACT [] xref: MIM:614932 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111468 name: combined oxidative phosphorylation deficiency 25 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MARS2 gene on chromosome 2q33.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25754315 "DO"] synonym: "COXPD25" EXACT [] xref: EFO:0009035 xref: MIM:616430 xref: ORDO:447954 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111469 name: combined oxidative phosphorylation deficiency 16 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL44 gene on chromosome 2q36.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23315540 "DO"] synonym: "COXPD16" EXACT [] synonym: "infantile hypertrophic cardiomyopathy due to MRPL44 deficiency" EXACT [] xref: GARD:12892 xref: MIM:615395 xref: ORDO:352563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111470 name: combined oxidative phosphorylation deficiency 28 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A26 gene on chromosome 3p14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27132592 "DO"] synonym: "COXPD28" EXACT [] synonym: "neonatal severe cardiopulmonary failure due to mitochondrial methylation defect" EXACT [] xref: MIM:616794 xref: ORDO:466784 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2019-02-27T09:30:20Z [Term] id: DOID:0111471 name: combined oxidative phosphorylation deficiency 30 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT10C gene on chromosome 3q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27132592 "DO"] synonym: "COXPD30" EXACT [] xref: EFO:0009038 xref: MIM:616974 xref: ORDO:478042 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111472 name: combined oxidative phosphorylation deficiency 9 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL3 gene on chromosome 3q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21786366 "DO"] synonym: "COXPD9" EXACT [] xref: MIM:614582 xref: ORDO:319509 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111473 name: combined oxidative phosphorylation deficiency 5 alt_id: MIM:611719 def: "A combined oxidative phosphorylation deficiency characterized by severe hypotonia, lactic academia and congenital hyperammonemia that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS22 gene on chromosome 3q23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17873122 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21189481 "DO"] synonym: "COXPD5" EXACT [] synonym: "hypotonia with lactic acidemia and hyperammonemia" EXACT [] xref: MESH:C567126 xref: ORDO:137908 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111474 name: combined oxidative phosphorylation deficiency 1 alt_id: MIM:609060 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM1 gene on chromosome 3q25.32. (DO)" [https://ghr.nlm.nih.gov/condition/combined-oxidative-phosphorylation-deficiency-1 "DO"] synonym: "COXPD1" EXACT [] synonym: "early fatal progressive hepatoencephalopathy" EXACT [] synonym: "GFM1-RELATED CONDITION" EXACT [] synonym: "hepatoencephalopathy due to combined oxidative phosphorylation defect type 1" EXACT [] synonym: "hepatoencephalopathy due to COXPD1" EXACT [] xref: MESH:C563797 xref: NCI:C125663 xref: ORDO:137681 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:13413 ! hepatic encephalopathy [Term] id: DOID:0111475 name: combined oxidative phosphorylation deficiency 39 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GFM2 gene on chromosome 5q13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22700954 "DO"] synonym: "COXPD39" EXACT [] xref: MIM:618397 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111476 name: combined oxidative phosphorylation deficiency 19 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the LYRM4 gene on chromosome 6p25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23814038 "DO"] synonym: "COXPD19" EXACT [] synonym: "severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency" EXACT [] xref: MIM:615595 xref: ORDO:397593 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111477 name: combined oxidative phosphorylation deficiency 14 def: "A combined oxidative phosphorylation deficiency characterized by neonatal onset of global developmental delay, refractory seizures, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the FARS2 gene on chromosome 6p25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22499341 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22833457 "DO"] synonym: "COXPD14" EXACT [] xref: MIM:614946 xref: ORDO:319519 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111478 name: combined oxidative phosphorylation deficiency 20 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the VARS2 gene on chromosome 6p21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25058219 "DO"] synonym: "COXPD20" EXACT [] synonym: "VARS2-RELATED CONDITION" EXACT [] synonym: "VARS2-RELATED DISORDERS" EXACT [] xref: MIM:615917 xref: ORDO:420728 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111479 name: combined oxidative phosphorylation deficiency 8 def: "A combined oxidative phosphorylation deficiency characterized by lethal infantile hypertrophic cardiomyopathy and in some cases subtle skeletal muscle and brain involvement that has_material_basis_in homozygous or compound heterozygous mutation in the AARS2 gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21549344 "DO"] synonym: "COXPD8" EXACT [] synonym: "fatal infantile mitochondrial cardiomyopathy" EXACT [] synonym: "hypertrophic mitochondrial cardiomyopathy, fatal infantile" EXACT [] xref: MIM:614096 xref: NCI:C180851 xref: ORDO:319504 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111480 name: combined oxidative phosphorylation deficiency 10 def: "A combined oxidative phosphorylation deficiency characterized by hypertrophic cardiomyopathy and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the MTO1 gene on chromosome 6q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22608499 "DO"] synonym: "COXPD10" EXACT [] synonym: "infantile hypertrophic mitochondrial cardiomyopathy, and lactic acidosis" EXACT [] synonym: "mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency" EXACT [] xref: MIM:614702 xref: ORDO:314637 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111481 name: combined oxidative phosphorylation deficiency 11 def: "A combined oxidative phosphorylation deficiency characterized by neonatal hypotonia, lactic acidosis, death in infancy and in some cases respiratory insufficiency, foot deformities, or seizures that has_material_basis_in homozygous or compound heterozygous mutation in the RMND1 gene on chromosome 6q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23022099 "DO"] synonym: "COXPD11" EXACT [] synonym: "infantile encephaloneuromyopathy, due to mitochondrial translation defect" EXACT [] xref: MIM:614922 xref: ORDO:324535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111482 name: combined oxidative phosphorylation deficiency 36 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS2 gene on chromosome 9q34.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29576219 "DO"] synonym: "COXPD36" EXACT [] xref: MIM:617950 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111483 name: combined oxidative phosphorylation deficiency 2 alt_id: MIM:610498 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS16 gene on chromosome 10q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15505824 "DO"] synonym: "agenesis of corpus callosum with dysmorphism and fatal lactic acidosis" EXACT [] synonym: "COXPD2" EXACT [] xref: MESH:C566468 xref: ORDO:254920 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:3650 ! lactic acidosis is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111484 name: combined oxidative phosphorylation deficiency 18 def: "A combined oxidative phosphorylation deficiency characterized by intrauterine growth retardation, hypotonia, visual impairment, speech delay, and lactic acidosis that has_material_basis_in homozygous or compound heterozygous mutation in the SFXN4 gene on chromosome 10q26.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24119684 "DO"] synonym: "COXPD18" EXACT [] synonym: "growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome" EXACT [] xref: MIM:615578 xref: ORDO:391348 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111485 name: combined oxidative phosphorylation deficiency 24 def: "A combined oxidative phosphorylation deficiency typically characterized by delayed neurodevelopment, refractory seizures, hypotonia, and hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25385316 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25629079 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28077841 "DO"] synonym: "COXPD24" EXACT [] xref: EFO:0009034 xref: MIM:616239 xref: ORDO:444458 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111486 name: combined oxidative phosphorylation deficiency 3 alt_id: MIM:610505 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TSFM gene on chromosome 12q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17033963 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25037205 "DO"] synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" EXACT [] synonym: "COXPD3" EXACT [] synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" EXACT [] synonym: "fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3" EXACT [] synonym: "fatal mitochondrial disease due to COXPD3" EXACT [] xref: MESH:C566467 xref: ORDO:168566 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:3650 ! lactic acidosis is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2019-03-26T09:16:15Z [Term] id: DOID:0111487 name: combined oxidative phosphorylation deficiency 7 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in C12orf65 on chromosome 12q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20598281 "DO"] synonym: "COXPD7" EXACT [] synonym: "severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [] synonym: "severe C12ORF65-related COXPD" EXACT [] xref: MIM:613559 xref: ORDO:254930 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0111488 name: combined oxidative phosphorylation deficiency 31 def: "A combined oxidative phosphorylation deficiency characterized by global developmental delay, severe hypotonia, and left ventricular non-compaction that has_material_basis_in homozygous or compound heterozygous mutation in the MIPEP gene on chromosome 13q12.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27799064 "DO"] synonym: "COXPD31" EXACT [] synonym: "lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome" EXACT [] xref: MIM:617228 xref: ORDO:478049 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111489 name: combined oxidative phosphorylation deficiency 27 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the CARS2 gene on chromosome 13q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25361775 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25787132 "DO"] synonym: "COXPD27" EXACT [] xref: EFO:0009037 xref: MIM:616672 xref: NCI:C185238 xref: ORDO:477774 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111490 name: combined oxidative phosphorylation deficiency 26 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TRMT5 gene on chromosome 14q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26189817 "DO"] synonym: "COXPD26" EXACT [] synonym: "peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay" EXACT [] synonym: "PNSED" EXACT [] xref: EFO:0009036 xref: MIM:616539 xref: ORDO:477684 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111491 name: combined oxidative phosphorylation deficiency 15 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation] in the MTFMT gene on chromosome 15q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21907147 "DO"] synonym: "COXPD15" EXACT [] xref: MIM:614947 xref: ORDO:319524 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111492 name: combined oxidative phosphorylation deficiency 32 def: "A combined oxidative phosphorylation deficiency characterized by onset in infancy of delayed psychomotor development and developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS34 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28777931 "DO"] synonym: "COXPD32" EXACT [] xref: MIM:617664 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111493 name: combined oxidative phosphorylation deficiency 12 def: "A combined oxidative phosphorylation deficiency characterized by infantile onset of hypotonia and delayed psychomotor development or developmental regression that has_material_basis_in homozygous or compound heterozygous mutation in the EARS2 gene on chromosome 16p12.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22492562 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23008233 "DO"] synonym: "COXPD12" EXACT [] synonym: "leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome" EXACT [] synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" EXACT [] synonym: "LTBL" EXACT [] xref: GARD:13381 xref: MIM:614924 xref: ORDO:314051 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:0111494 name: combined oxidative phosphorylation deficiency 4 alt_id: MIM:610678 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TUFM gene on chromosome 16p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17160893 "DO"] synonym: "COXPD4" EXACT [] xref: MESH:C565690 xref: ORDO:254925 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111495 name: combined oxidative phosphorylation deficiency 33 alt_id: RDO:9005147 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the C1QBP gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28942965 "DO"] synonym: "COXPD33" EXACT [] xref: EFO:0009159 xref: MIM:617713 xref: NCI:C174440 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111496 name: combined oxidative phosphorylation deficiency 17 def: "A combined oxidative phosphorylation deficiency characterized by onset in the first years of life of severe hypertrophic cardiomyopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ELAC2 gene on chromosome 17p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23849775 "DO"] synonym: "COXPD17" EXACT [] xref: MIM:615440 xref: ORDO:369913 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111497 name: combined oxidative phosphorylation deficiency 34 def: "A combined oxidative phosphorylation deficiency typically characterized by congenital sensorineural deafness, increased serum lactate, and hepatic and renal dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS7 gene on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25556185 "DO"] synonym: "COXPD34" EXACT [] synonym: "syndromic sensorineural deafness due to combined oxidative phosphorylation defect" EXACT [] synonym: "syndromic sensorineural deafness due to COXPD" EXACT [] synonym: "syndromic sensorineural hearing loss due to COXPD" EXACT [] xref: MIM:617872 xref: MONDO:0054741 xref: ORDO:457223 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111498 name: combined oxidative phosphorylation deficiency 22 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5A1 gene on chromosome 18q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23596069 "DO"] synonym: "ATP5F1A-RELATED CONDITION" BROAD [] synonym: "COXPD22" EXACT [] xref: MIM:616045 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111499 name: combined oxidative phosphorylation deficiency 37 def: "A combined oxidative phosphorylation deficiency characterized by hypotonia, failure to thrive, liver disfunction, and neurodegeneration that has_material_basis_in homozygous or compound heterozygous mutation in MICOS13 on chromosome 19p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27485409 "DO"] synonym: "COXPD37" EXACT [] synonym: "MITOCHONDRIAL HEPATO-ENCEPHALOPATHY" EXACT [] xref: MIM:618329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111500 name: combined oxidative phosphorylation deficiency 23 def: "A combined oxidative phosphorylation deficiency characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the GTPBP3 gene on chromosome 19p13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25434004 "DO"] synonym: "COXPD23" EXACT [] xref: EFO:0009033 xref: MIM:616198 xref: NCI:C187986 xref: ORDO:444013 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111501 name: combined oxidative phosphorylation deficiency 29 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TXN2 gene on chromosome 22q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26626369 "DO"] synonym: "COXPD29" EXACT [] xref: MIM:616811 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency [Term] id: DOID:0111502 name: combined oxidative phosphorylation deficiency 6 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in hemizygous mutation in the AIFM1 gene on chromosome Xq26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20362274 "DO"] synonym: "COXPD6" EXACT [] synonym: "mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6" EXACT [] synonym: "mitochondrial encephalomyopathy due to COXPD6" EXACT [] synonym: "severe X-linked mitochondrial encephalomyopathy" EXACT [] synonym: "X-linked mitochondrial encephalomyopathy" EXACT [] xref: MIM:300816 xref: ORDO:238329 is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:0111503 name: Li-Fraumeni syndrome 1 alt_id: DOID:9004131 alt_id: MESH:C563754 alt_id: MIM:151623 def: "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1978757 "DO"] synonym: "LFL" NARROW [] synonym: "LFS1" EXACT [] synonym: "LFS3" RELATED [] synonym: "Li-Fraumeni -like syndrome" NARROW [] synonym: "Li-Fraumeni syndrome 3" RELATED [] xref: MESH:C538639 is_a: DOID:3012 ! Li-Fraumeni syndrome [Term] id: DOID:0111504 name: Li-Fraumeni syndrome 2 alt_id: MIM:609265 def: "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11479205 "DO"] synonym: "Breast and colorectal cancer, susceptibility to" RELATED [] synonym: "cancer predisposition syndrome, CHEK2-related" EXACT [] synonym: "LFS2" EXACT [] synonym: "TPDS4" EXACT [] synonym: "tumor predisposition syndrome 4" EXACT [] synonym: "tumor predisposition syndrome 4, breast/prostate/colorectal" EXACT [] xref: MESH:C563755 is_a: DOID:3012 ! Li-Fraumeni syndrome is_a: DOID:9001329 ! Tumor Predisposition Syndrome [Term] id: DOID:0111505 name: palmoplantar keratoderma-deafness syndrome alt_id: MIM:148350 def: "A syndrome characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has_material_basis_in heterozygous mutation in the GJB2 gene on chromosome 13q12.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10633135 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1532426 "DO"] synonym: "diffuse palmoplantar keratoderma with deafness" EXACT [] synonym: "focal palmoplantar keratoderma with sensorineural deafness" EXACT [] synonym: "HEREDITARY PALMOPLANTAR KERATODERMA" NARROW [] synonym: "Hereditary palmoplantar keratoderma with deafness" EXACT [] synonym: "Keratoderma palmoplantar deafness" EXACT [] synonym: "Palmoplantar Hyperkeratosis-Deafness Syndrome" EXACT [] synonym: "Palmoplantar Hyperkeratosis-Hearing Loss Syndrome" EXACT [] synonym: "Palmoplantar keratoderma and sensorineural deafness" EXACT [] synonym: "Palmoplantar Keratoderma-Hearing Loss Syndrome" EXACT [] synonym: "Palmoplantar Keratoderma with Deafness" EXACT [] synonym: "PPK-deafness syndrome" EXACT [] synonym: "PPK with deafness" EXACT [] xref: GARD:3094 xref: MESH:C536152 xref: ORDO:2202 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:0111506 name: palmoplantar keratoderma-esophageal carcinoma syndrome def: "A syndrome characterized by palmoplantar keratoderma and esophageal cancer that has_material_basis_in heterozygous mutation in the RHBDF2 gene on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13579162 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22265016 "DO"] synonym: "Bennion-Patterson syndrome" EXACT [] synonym: "Howell Evans syndrome" EXACT [] synonym: "keratosis palmaris et plantaris with esophageal cancer" EXACT [] synonym: "keratosis palmoplantaris-esophageal carcinoma syndrome" EXACT [] synonym: "keratosis palmoplantaris with esophageal cancer" EXACT [] synonym: "palmoplantar hyperkeratosis-esophageal carcinoma syndrome" EXACT [] synonym: "palmoplantar keratoderma with esophageal cancer" EXACT [] synonym: "TOC" EXACT [] synonym: "tylosis-oesophageal carcinoma syndrome" EXACT [] synonym: "tylosis with esophageal cancer" EXACT [] xref: GARD:3102 xref: MESH:C536164 xref: MIM:148500 xref: MONDO:0007856 xref: ORDO:2198 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:5041 ! esophageal cancer [Term] id: DOID:0111507 name: Lenz-Majewski hyperostotic dwarfism alt_id: MIM:151050 def: "A syndrome characterized by intellectual disability, sclerosing bone dysplasia, distinct craniofacial, dental, cutaneous and distal-limb anomalies that has_material_basis_in heterozygous mutation in the PTDSS1 gene on chromosome 8q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24241535 "DO"] synonym: "delayed closure of fontanel, proximal symphalangism, prominent cutaneous veins,mental retardation, and progressive skeletal sclerosis" EXACT [] synonym: "Lenz-Majewski hyperostosis syndrome" EXACT [] synonym: "Lenz-Majewski syndrome" EXACT [] synonym: "LMHD" EXACT [] synonym: "multiple congenital anomalies, mental retardation, and progressive skeletal sclerosis" EXACT [] xref: GARD:3223 xref: MESH:C537115 xref: ORDO:2658 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111508 name: Torrance type platyspondylic dysplasia alt_id: MIM:151210 def: "An osteochondrodysplasia characterized by decreased ossification of the skull base, disc-like platyspondyly, short thin ribs, hypoplastic pelvis with wide sacrosciatic notches and flat acetabular roof, and short tubular long bones with metaphyseal cupping that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14729840 "DO", https://www.ncbi.nlm.nih.gov/pubmed/448481 "DO"] synonym: "lethal short-limbed platyspondylic dwarfism, Torrance type" EXACT [] synonym: "lethal skeletal dysplasia" EXACT [] synonym: "Platyspondylic Chondrodysplasia, Torrance-Luton Type" EXACT [] synonym: "platyspondylic dysplasia, Torrance-Luton type" EXACT [] synonym: "Platyspondylic Lethal Skeletal Dysplasia, Luton Type" RELATED [] synonym: "Platyspondylic Lethal Skeletal Dysplasia, Torrance Type" EXACT [] synonym: "Platyspondylic Skeletal Dysplasia, Torrance Type" EXACT [] synonym: "PLSDL" RELATED [] synonym: "PLSD-T" EXACT [] synonym: "PLSDT" EXACT [] synonym: "PLSD-TL" EXACT [] synonym: "thanatophoric dysplasia, Luton variant" RELATED [] synonym: "thanatophoric dysplasia, Torrance variant" EXACT [] xref: GARD:4382 xref: MESH:C563627 xref: ORDO:85166 is_a: DOID:13481 ! thanatophoric dysplasia [Term] id: DOID:0111509 name: lymphedema-distichiasis syndrome alt_id: MIM:153400 def: "A syndrome characterized by lymphedema of the limbs and double rows of eyelashes that has_material_basis_in heterozygous mutation in the FOXC2 gene on chromosome 16q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11078474 "DO"] synonym: "hereditary lymphedema-distichiasis syndrome" EXACT [] synonym: "LPHDST" EXACT [] synonym: "lymphedema-distichiasis syndrome with renal disease and diabetes mellitus" NARROW [] synonym: "lymphedema with distichiasis" EXACT [] xref: GARD:333 xref: MESH:C537710 xref: NCI:C128191 xref: ORDO:33001 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema [Term] id: DOID:0111510 name: Marshall syndrome alt_id: MIM:154780 def: "An ectodermal dysplasia characterized by hypoplasia of the maxilla, nasal bones, and frontal sinuses, as well as calvarial thickening, myopia, early-onset cataracts, and sensorineural hearing loss that has_material_basis_in heterozygous or homozygous mutation (most frequently affecting splice sites) in the COL11A1 gene on chromosome 1p21.1. Mutations, typically null, in the COL11A1 gene may also cause Stickler syndrome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13520885 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25073711 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9529347 "DO"] synonym: "Deafness, myopia, cataract, saddle nose-Marshall type" EXACT [] synonym: "MRSHS" EXACT [] xref: GARD:6984 xref: MESH:C536025 xref: NCI:C128115 xref: ORDO:560 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:83 ! cataract is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111511 name: melanoma and neural system tumor syndrome alt_id: MIM:155755 def: "A syndrome characterized by predisposition to cutaneous melanoma and neural tumor (typically astrocytomas) development that has_material_basis_in heterozygous mutation in the CDKN2A gene on chromosome 9p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10797439 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8414022 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8635060 "DO"] synonym: "cutaneous malignant melanoma and cerebral astrocytoma" EXACT [] synonym: "melanoma astrocytoma syndrome" EXACT [] xref: GARD:8468 xref: MESH:C536149 xref: NCI:C176905 xref: ORDO:252206 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1909 ! melanoma is_a: DOID:225 ! syndrome is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:0111512 name: metachondromatosis alt_id: MIM:156250 def: "An osteochondrodysplasia characterized by the presence of both multiple multiple enchondromas and exostoses that has_material_basis_in heterozygous mutation in the PTPN11 gene on chromosome 12q24.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20577567 "DO"] synonym: "METCDS" EXACT [] xref: GARD:3560 xref: MESH:C562938 xref: ORDO:2499 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:0111513 name: metaphyseal dysplasia-maxillary hypoplasia-brachydactyly syndrome alt_id: MIM:156510 def: "An osteochondrodysplasia characterized by metaphyseal flaring of long bones, enlargement of the medial halves of the clavicles, maxillary hypoplasia, variable brachydactyly, and dystrophic teeth that has_material_basis_in heterozygous duplication of the RUNX2 gene on chromosome 6p21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23290074 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7137223 "DO"] synonym: "MDMHB" EXACT [] synonym: "metaphyseal dysplasia, maxillary hypoplasia, brachydactyly" EXACT [] synonym: "metaphyseal dysplasia with maxillary hypoplasia and brachydactyly" EXACT [] synonym: "metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly" EXACT [] synonym: "RUNX2-RELATED CONDITION" BROAD [] xref: GARD:3568 xref: MESH:C563586 xref: ORDO:2504 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001487 ! Facies [Term] id: DOID:0111514 name: metatropic dysplasia alt_id: MIM:156530 def: "A spondyloepimetaphyseal dysplasia characterized by short limbs with limitation and enlargement of joints, usually severe and progressive kyphoscoliosis, severe platyspondyly, and severe metaphyseal enlargement that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://ghr.nlm.nih.gov/condition/metatropic-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/18348257 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4963592 "DO"] synonym: "metatrophic dysplasia" EXACT [] synonym: "metatropic dwarfism" EXACT [] synonym: "metatropic dysplasia 1" EXACT [] synonym: "metatropic dysplasia type 1" EXACT [] xref: GARD:3571 xref: MESH:C537356 xref: NCI:C175209 xref: ORDO:2635 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111515 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 2 def: "A chronic progressive external ophthalmoplegia characterized by adult onset of progressive external ophthalmoplegia, exercise intolerance, muscle weakness, and signs and symptoms of spinocerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the RNASEH1 gene on chromosome 2p25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26094573 "DO"] synonym: "adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy" EXACT [] synonym: "adult-onset CPEO with mitochondrial myopathy" EXACT [] synonym: "autosomal recessive progressive external ophthalmoplegia 2" EXACT [] synonym: "PEOB2" EXACT [] xref: MIM:616479 xref: ORDO:329336 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive creation_date: 2012-12-11T00:00:00Z [Term] id: DOID:0111516 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 4 def: "A chronic progressive external ophthalmoplegia characterized by adult onset of eye muscle weakness and proximal limb muscle weakness that has_material_basis_in homozygous or compound heterozygous mutation in the DGUOK gene on chromosome 2p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23043144 "DO"] synonym: "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" EXACT [] synonym: "adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency" EXACT [] synonym: "PEOB4" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal recessive 4" EXACT [] xref: MIM:617070 xref: ORDO:329314 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive [Term] id: DOID:0111517 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 2 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the SLC25A4 gene on chromosome 4q35.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10926541 "DO"] synonym: "PEOA2" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal dominant 2" EXACT [] xref: MESH:C563750 xref: MIM:609283 xref: MONDO:0012238 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111518 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 5 alt_id: MIM:613077 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the RRM2B gene on chromosome 8q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19664747 "DO"] synonym: "autosomal dominant progressive external ophthalmoplegia 5" EXACT [] synonym: "PEOA5" EXACT [] xref: MESH:C567768 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111519 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 def: "A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23352259 "DO"] synonym: "DNA2-RELATED CONDITION" BROAD [] synonym: "DNA2-related mitochondrial DNA deletion syndrome" EXACT [] synonym: "mitochondrial DNA deletion syndrome with limb-girdle weakness" EXACT [] synonym: "mitochondrial DNA deletion syndrome with progressive myopathy" EXACT [] synonym: "mtDNA deletion syndrome with limb-girdle weakness" EXACT [] synonym: "mtDNA deletion syndrome with progressive myopathy" EXACT [] synonym: "PEOA6" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal dominant 6" EXACT [] xref: MIM:615156 xref: ORDO:352470 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111520 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 3 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the TWNK gene on chromosome 10q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11431692 "DO"] synonym: "PEOA3" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal dominant 3" EXACT [] xref: MESH:C563747 xref: MIM:609286 xref: MONDO:0012241 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111521 name: autosomal dominant progressive external ophthalmoplegia 1 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG gene on chromosome 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11431686 "DO"] synonym: "PEOA1" EXACT [] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 1" EXACT [] xref: MESH:C563575 xref: MIM:157640 xref: MONDO:0024528 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111522 name: autosomal recessive progressive external ophthalmoplegia 1 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the POLG gene on chromosome 15q26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11431686 "DO"] synonym: "PEOB1" EXACT [] synonym: "progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1" EXACT [] xref: MIM:258450 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive [Term] id: DOID:0111523 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 3 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in TK2 on chromosome 16q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21937588 "DO"] synonym: "PEOB3" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal recessive 3" EXACT [] xref: MIM:617069 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive created_by: rgd creation_date: 2017-11-30T00:00:00Z [Term] id: DOID:0111524 name: autosomal recessive progressive external ophthalmoplegia with mitochondrial DNA deletions 5 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in homozygous or compound heterozygous mutation in the TOP3A gene on chromosome 17p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29290614 "DO"] synonym: "PEOB5" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal recessive 5" EXACT [] xref: MIM:618098 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive [Term] id: DOID:0111525 name: autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 4 alt_id: MIM:610131 def: "A chronic progressive external ophthalmoplegia that has_material_basis_in heterozygous mutation in the POLG2 gene on chromosome 17q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16685652 "DO"] synonym: "PEOA4" EXACT [] synonym: "progressive external ophthalmoplegia, autosomal dominant 4" EXACT [] xref: MESH:C566437 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:0111526 name: Mullerian aplasia and hyperandrogenism alt_id: MIM:158330 def: "A disorder of sexual development characterized by primary amenorrhea, an underdeveloped or absent uterus, and clinical hyperandrogenism that has_material_basis_in heterozygous mutation in the WNT4 gene on chromosome 1p36.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15317892 "DO"] synonym: "Mullerian duct failure and hyperandrogenism" EXACT [] synonym: "WNT4 deficiency" EXACT [] xref: MESH:C567186 xref: NCI:C120376 xref: ORDO:247768 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11613 ! hyperandrogenism is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:0111527 name: spinal muscular atrophy with progressive myoclonic epilepsy alt_id: MIM:159950 def: "A motor neuron disease characterized by severe and progressive myoclonic epilepsy and lower-motor-neuron disease that has_material_basis_in homozygous or compound heterozygous mutation in the ASAH1 gene on chromosome 8p22. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy-with-progressive-myoclonic-epilepsy "DO", https://www.ncbi.nlm.nih.gov/pubmed/22703880 "DO"] synonym: "hereditary myoclonus and progressive distal muscular atrophy" EXACT [] synonym: "hereditary myoclonus-progressive distal muscular atrophy syndrome" EXACT [] synonym: "hereditary myoclonus with progressive distal muscular atrophy" EXACT [] synonym: "Jankovic Rivera syndrome" EXACT [] synonym: "SMA-PME" EXACT [] synonym: "SMAPME" EXACT [] xref: GARD:3044 xref: GARD:3875 xref: MESH:C537563 xref: ORDO:2590 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060160 ! childhood spinal muscular atrophy is_a: DOID:11720 ! distal myopathy is_a: DOID:891 ! progressive myoclonus epilepsy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:0111528 name: Naegeli-Franceschetti-Jadassohn syndrome alt_id: MIM:161000 def: "A ectodermal dysplasia characterized by reticulate hyperpigmentation that made fade with age, palmoplantar keratoderma, absence of dermatoglyphics, abnormal sweat function and dental anomalies that has_material_basis_in heterozygous mutation in the KRT14 gene on chromosome 17q21.2. (DO)" [https://ghr.nlm.nih.gov/condition/naegeli-franceschetti-jadassohn-syndrome-dermatopathia-pigmentosa-reticularis "DO", https://www.ncbi.nlm.nih.gov/pubmed/16960809 "DO"] synonym: "Naegeli syndrome" EXACT [] synonym: "NFJS" EXACT [] synonym: "NFJ syndrome" EXACT [] xref: GARD:3912 xref: MESH:C538331 xref: ORDO:69087 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11155 ! hypohidrosis is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:0111529 name: familial multiple nevi flammei alt_id: DOID:9006628 def: "A capillary disease characterized by dark red to purple, nonelevated, sharply circumscribed patches which blanch on pressure with a glass, do not spontaneously regress, and have normal rates endothelial cell turnover. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16846771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6716409 "DO"] synonym: "capillary malformations" EXACT [] synonym: "CMAL" EXACT [] synonym: "CMC" EXACT [] synonym: "Congenital Capillary Malformations" EXACT [] synonym: "congenital capillary malformations, 1" EXACT [] synonym: "familial multiple port-wine stains" EXACT [] synonym: "port-wine stain familial multiple" EXACT [] xref: GARD:3986 xref: MESH:C535816 xref: MESH:C562760 xref: MIM:163000 xref: MONDO:0008094 xref: ORDO:624 is_a: DOID:1271 ! capillary disease is_a: DOID:9001616 ! Port-Wine Stain is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:0111530 name: linear nevus sebaceous syndrome alt_id: MIM:163200 def: "A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17366580 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1918493 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22683711 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24006476 "DO"] synonym: "epidermal nevus syndrome" EXACT [] synonym: "Feuerstein Mims syndrome" EXACT [] synonym: "inflammatory linear verrucose epidermal nevus" EXACT [] synonym: "inflammatory linear verrucous epidermal naevus" EXACT [] synonym: "Jadassohn Nevus Phakomatosis" EXACT [] synonym: "Jadassohn Nevus Sebaceus" EXACT [] synonym: "Jadassohn Sebaceous Nevus" EXACT [] synonym: "JNP" EXACT [] synonym: "Linear Sebaceous Nevus" EXACT [] synonym: "Linear Verrucous Epidermal Nevus" EXACT [] synonym: "Nevus Sebaceus of Jadassohn" EXACT [] synonym: "nevus sebaceus syndrome" EXACT [] synonym: "Organoid Nevus Phakomatoses" EXACT [] synonym: "Organoid Nevus Phakomatosis" EXACT [] synonym: "organoid nevus syndrome" EXACT [] synonym: "Schimmelpenning Feuerstein Mims Syndrome" EXACT [] synonym: "Schimmelpenning Syndrome" EXACT [] synonym: "sebaceous nevus of Jadassohn" EXACT [] synonym: "SFM" EXACT [] synonym: "SFM syndrome" EXACT [] synonym: "Solomon syndrome" EXACT [] synonym: "verrucous epidermal nevus" EXACT [] synonym: "verrucous nevus" EXACT [] xref: EFO:1001841 xref: GARD:10291 xref: MESH:D054000 xref: ORDO:2612 is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9002969 ! Nevus is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111531 name: bilateral optic nerve hypoplasia alt_id: MIM:165550 def: "An optic nerve disease characterized by isolated optic nerve hypoplasia or aplasia that has_material_basis_in heterozygous mutation in the PAX6 gene on chromosome 11p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12721955 "DO"] synonym: "bilateral optic nerve aplasia" NARROW [] synonym: "familial bilateral optic nerve hypoplasia" EXACT [] synonym: "isolated optic nerve hypoplasia/aplasia" EXACT [] synonym: "ONH" EXACT [] xref: GARD:8419 xref: ICD10CM:H47.03 xref: ICD9CM:377.43 xref: MESH:C537130 xref: MESH:C563492 xref: MESH:D000080344 xref: NCI:C101268 xref: NCI:C98999 xref: ORDO:137902 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060857 ! septooptic dysplasia is_a: DOID:1891 ! optic nerve disease created_by: mtutaj creation_date: 2019-02-25T12:06:43Z [Term] id: DOID:0111532 name: osteoglophonic dysplasia alt_id: MIM:166250 def: "An osteochondrodysplasia characterized by rhizomelic dwarfism, craniosynostosis, prominent supraorbital ridge, depressed nasal bridge, nonossifying bone lesions, and multiple unerupted teeth that has_material_basis_in heterozygous missense mutation in the FGFR1 gene on chromosome 8p11.23. (DO)" [https://ghr.nlm.nih.gov/condition/osteoglophonic-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/15625620 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7422392 "DO"] synonym: "Fairbank-Keats syndrome" EXACT [] synonym: "OGD" EXACT [] synonym: "osteoglophonic dwarfism" EXACT [] xref: GARD:4142 xref: MESH:C536050 xref: ORDO:2645 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:0111533 name: gnathodiaphyseal dysplasia alt_id: MIM:166260 def: "An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. (DO)" [https://ghr.nlm.nih.gov/condition/gnathodiaphyseal-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/15124103 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23047743 "DO"] synonym: "GDD" EXACT [] synonym: "gnathodiaphyseal sclerosis" EXACT [] synonym: "Levin syndrome 2" EXACT [] synonym: "osteogenesis imperfecta, Levin type" EXACT [] synonym: "osteogenesis imperfecta with unusual skeletal lesions" EXACT [] xref: GARD:8698 xref: MESH:C536039 xref: ORDO:53697 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:9000066 ! Jaw Abnormalities created_by: rgd creation_date: 2016-01-13T00:00:00Z [Term] id: DOID:0111534 name: multicentric carpotarsal osteolysis syndrome alt_id: MIM:166300 def: "A syndrome characterized by progressive loss of bone, typically involving the carpal and tarsal bones, and in many cases chronic renal failure that has_material_basis_in heterozygous mutation in the MAFB gene on chromosome 20q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22387013 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3041835 "DO"] synonym: "carpal osteolysis" NARROW [] synonym: "hereditary osteolysis of carpal bones with or without nephropathy" EXACT [] synonym: "idiopathic multicentric osteolysis with or without nephropathy" EXACT [] synonym: "MAFB-RELATED CONDITION" BROAD [] synonym: "MCTO" EXACT [] synonym: "multicentric carpo-tarsal osteolysis with or without nephropathy" EXACT [] synonym: "multicentric osteolysis, autosomal dominant" EXACT [] synonym: "multicentric osteolysis nephropathy" EXACT [] xref: GARD:3818 xref: MESH:C567171 xref: NCI:C178416 xref: ORDO:2774 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006569 ! Osteolysis Hereditary Multicentric [Term] id: DOID:0111535 name: progressive osseous heteroplasia alt_id: MIM:166350 def: "A syndrome characterized by infantile onset of dermal ossification followed by progressive bone formation in skeletal muscle and deep fascia that has_material_basis_in heterozygous loss of function mutation in the Gs-alpha isoform of the GNAS gene on chromosome 20q13.32. (DO)" [https://ghr.nlm.nih.gov/condition/progressive-osseous-heteroplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/11784876 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8126048 "DO"] synonym: "cutaneous ossification" EXACT [] synonym: "ectopic ossification familial type" EXACT [] synonym: "familial ectopic ossification" EXACT [] synonym: "osteodermia" EXACT [] synonym: "osteoma cutis" EXACT [] synonym: "osteosis cutis" EXACT [] synonym: "POH" EXACT [] xref: GARD:109 xref: MESH:C562735 xref: NCI:C132062 xref: ORDO:2762 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9003295 ! Heterotopic Ossification is_a: DOID:9007168 ! Genetic Skin Diseases created_by: mtutaj creation_date: 2019-02-26T09:11:43Z [Term] id: DOID:0111536 name: Buschke-Ollendorff syndrome alt_id: MIM:166700 def: "A syndrome characterized by multiple subcutaneous nevi or nodules and osteopoikilosis that has_material_basis_in heterozygous mutation in the LEMD3 gene on chromosome 12q14.3. (DO)" [https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15489854 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19438932 "DO"] synonym: "BOS" EXACT [] synonym: "dermatofibrosis lenticularis disseminata" EXACT [] synonym: "DERMATOFIBROSIS LENTICULARIS DISSEMINATA, ISOLATED" RELATED [] synonym: "Dermatofibrosis lenticularis disseminata with osteopoikilosis" EXACT [] synonym: "Dermatoosteopoikilosis" EXACT [] synonym: "disseminated dermatofibrosis with osteopoikilosis" EXACT [] synonym: "LEMD3-RELATED CONDITION" EXACT [] synonym: "osteopathia condensans disseminata" EXACT [] synonym: "OSTEOPOIKILOSIS, ISOLATED" RELATED [] synonym: "osteopoikilosis with melorheostosis" RELATED [] synonym: "OSTEOPOIKILOSIS WITH OR WITHOUT MELORHEOSTOSIS" RELATED [] xref: GARD:1044 xref: MESH:C537415 xref: ORDO:1306 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11991 ! Osteopoikilosis is_a: DOID:225 ! syndrome is_a: DOID:9007168 ! Genetic Skin Diseases created_by: mtutaj creation_date: 2019-10-08T11:57:28Z [Term] id: DOID:0111537 name: paroxysmal extreme pain disorder alt_id: MIM:167400 def: "An autonomic nervous system disease characterized by onset in the neonatal period or infancy of paroxysms of rectal, ocular, or submandibular pain with flushing that has_material_basis_in heterozygous mutation in the SCN9A gene on chromosome 2q24.3. (DO)" [https://ghr.nlm.nih.gov/condition/paroxysmal-extreme-pain-disorder "DO", https://www.ncbi.nlm.nih.gov/pubmed/17145499 "DO"] synonym: "familial rectal pain" EXACT [] synonym: "PEPD" EXACT [] synonym: "PEXPD" EXACT [] synonym: "submandibular, ocular, and rectal pain with flushing" EXACT [] xref: GARD:12854 xref: MESH:C563475 xref: NCI:C125385 xref: ORDO:46348 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:9000641 ! Pain created_by: rgd creation_date: 2015-06-30T00:00:00Z [Term] id: DOID:0111538 name: paramyotonia congenita of Von Eulenburg def: "A neuromuscular disease characterized by onset in infancy or early childhood of bouts of myotonia and muscle weakness that are increased by cold exposure that has_material_basis_in heterozygous mutation in the SCN4A gene on chromosome 17q23.3. (DO)" [https://ghr.nlm.nih.gov/condition/paramyotonia-congenita "DO", https://www.ncbi.nlm.nih.gov/pubmed/1316765 "DO"] synonym: "Eulenburg disease" EXACT [] synonym: "myotonia congenita intermittens" EXACT [] synonym: "paralysis periodica paramyotonica" EXACT [] synonym: "PARAMYOTONIA CONGENITA" EXACT [] synonym: "PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS" NARROW [] synonym: "paramyotonia congenita without cold paralysis" NARROW [] synonym: "PMC" EXACT [] synonym: "Von Eulenburg paramyotonia congenita" EXACT [] xref: GARD:7325 xref: ICD10CM:G71.19 xref: MIM:168300 xref: ORDO:684 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:450 ! myotonic disease [Term] id: DOID:0111539 name: parastremmatic dwarfism alt_id: MIM:168400 def: "An osteochondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and bowing and twisting of lower limbs that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20503319 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4992387 "DO"] synonym: "parastremmatic dysplasia" EXACT [] xref: GARD:4222 xref: MESH:C537172 xref: ORDO:2646 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060249 ! scoliosis is_a: DOID:1059 ! intellectual disability is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:4667 ! kyphosis is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111540 name: prolidase deficiency alt_id: MIM:170100 def: "An amino acid metabolic disorder characterized by massive imidodipeptiduria, chronic and slowly healing ulcerations, recurrent infections, dysmorphic facial features, variable cognitive impairment, splenomegaly, and lack of or reduced prolidase activity that has_material_basis_in homozygous or compound heterozygous mutation in the PEPD gene on chromosome 19q13.11. (DO)" [https://ghr.nlm.nih.gov/condition/prolidase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/18340504 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1972707 "DO"] synonym: "Hyperimidodipeptiduria" EXACT [] synonym: "hyperimidodipeptidurias" EXACT [] synonym: "Imidodipeptidase Deficiencies" EXACT [] synonym: "Imidodipeptidase Deficiency" EXACT [] synonym: "PEPD-RELATED CONDITION" EXACT [] synonym: "peptidase deficiency" EXACT [] synonym: "prolidase deficiencies" EXACT [] xref: GARD:7473 xref: MESH:D056732 xref: NCI:C85029 xref: ORDO:742 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9252 ! amino acid metabolic disorder created_by: slaulede creation_date: 2019-01-15T17:42:02Z [Term] id: DOID:0111541 name: pigmented paravenous chorioretinal atrophy alt_id: MIM:172870 def: "An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15623792 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3778279 "DO"] synonym: "PPCRA" EXACT [] synonym: "PPRCA" EXACT [] xref: MESH:C566801 xref: ORDO:251295 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8466 ! retinal degeneration is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0111542 name: familial expansile osteolysis alt_id: MIM:174810 def: "A bone remodeling disease characterized by increased bone remodeling with osteolytic lesions mainly affecting the appendicular skeleton, bone pain, pathological fractures, childhood onset of conductive hearing loss, and premature tooth loss that has_material_basis_in heterozygous mutation in the TNFRSF11A gene on chromosome 18q21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10615125 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12362049 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17447113 "DO"] synonym: "EOF" EXACT [] synonym: "FEO" EXACT [] synonym: "HEPOD" EXACT [] synonym: "hereditary expansile polyostotic osteolytic dysplasia" EXACT [] synonym: "McCabe disease" EXACT [] xref: GARD:9168 xref: MESH:C536335 xref: ORDO:85195 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:0111543 name: juvenile polyposis-hereditary hemorrhagic telangiectasia syndrome alt_id: MIM:175050 def: "A syndrome characterized by hamartomatous polyps in the gastrointestinal tract, telangiectases of the skin, and oral and nasal mucosa, epistaxis, and arteriovenous malformations of the lungs, liver, brain, and gastrointestinal tract that has_material_basis_in heterozygous mutation in the SMAD4 gene on chromosome 18q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15031030 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101697 "DO"] synonym: "generalized juvenile polyposis with pulmonary arteriovenous malformation" EXACT [] synonym: "hereditary hemorrhagic telangiectasia with juvenile polyposis coli" EXACT [] synonym: "JP/HHT SYNDROME" EXACT [] synonym: "JP-HHT" EXACT [] synonym: "JPHHT Syndrome" EXACT [] synonym: "JPHT" EXACT [] synonym: "JPS/HHT" EXACT [] synonym: "JPSHHT" EXACT [] synonym: "Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia" EXACT [] xref: MESH:C563412 is_a: DOID:0050787 ! juvenile polyposis syndrome is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia [Term] id: DOID:0111544 name: Guttmacher syndrome alt_id: MIM:176305 def: "A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11968094 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8484413 "DO"] synonym: "autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias" EXACT [] synonym: "preaxial deficiency, postaxial polydactyly and hypospadias" EXACT [] synonym: "preaxial deficiency-postaxial polydactyly-hypospadias syndrome" EXACT [] xref: GARD:4470 xref: MESH:C538278 xref: ORDO:2957 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10892 ! hypospadias is_a: DOID:225 ! syndrome is_a: DOID:9003071 ! Postaxial Polydactyly is_a: DOID:9005329 ! Preaxial Polydactyly is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111545 name: familial male-limited precocious puberty alt_id: MIM:176410 def: "An endocrine system disease characterized by onset in early childhood of accelerated growth, early development of secondary sexual characteristics, and reduced adult height in males only that has_material_basis_in heterozygous mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://ghr.nlm.nih.gov/condition/familial-male-limited-precocious-puberty "DO", https://www.ncbi.nlm.nih.gov/pubmed/7692306 "DO"] synonym: "familial gonadotrophin-independent sexual precocity" EXACT [] synonym: "familial gonadotropin-independent male-limited sexual precocity" EXACT [] synonym: "familial gonadotropin-independent sexual precocity" EXACT [] synonym: "familial precocious puberty" EXACT [] synonym: "Familial Testotoxicosis" EXACT [] synonym: "FMPP" EXACT [] synonym: "Gonadotrophin-Independent Precocious Puberty" EXACT [] synonym: "Idiopathic sexual precocity" EXACT [] synonym: "LEYDIG CELL ADENOMA, SOMATIC, WITH MALE-LIMITED PRECOCIOUS PUBERTY" NARROW [] synonym: "Precocious Pseudopuberty" EXACT [] synonym: "Precocious puberty, male limited" EXACT [] synonym: "pubertas praecox" EXACT [] synonym: "sexual precocity" EXACT [] synonym: "testotoxicosis" EXACT [] xref: GARD:4475 xref: MESH:C536961 xref: MESH:C538542 xref: NCI:C113219 xref: ORDO:3000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007284 ! Precocious Puberty [Term] id: DOID:0111546 name: Currarino syndrome alt_id: MIM:176450 def: "A syndrome characterized by anorectal malformations, a presacral mass, and partial sacral agenesis with intact first sacral vertebra that has_material_basis_in heterozygous mutation in HLXB9 on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6789651 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9843207 "DO"] synonym: "Currarino triad" EXACT [] synonym: "hereditary sacral agenesis with presacral mass, anterior meningocele, and/or teratoma, and anorectal malformation" NARROW [] synonym: "sacral agenesis syndrome" NARROW [] synonym: "SCRA1" NARROW [] xref: GARD:1626 xref: MESH:C536221 xref: ORDO:1552 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:327 ! syringomyelia is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:0111547 name: retinal arterial tortuosity def: "An artery disease characterized by pronounced tortuosity of second- and third-order retinal arteries with normal first-order arteries and venous system that has_material_basis_in heterozygous mutation in the COL4A1 gene on chromosome 13q34. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12745002 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25228067 "DO"] synonym: "RATOR" EXACT [] synonym: "retinal arteriolar tortuosity" EXACT [] synonym: "RETINAL HEMORRHAGE WITH VASCULAR TORTUOSITY" EXACT [] synonym: "tortuosity of retinal arteries" EXACT [] xref: MIM:180000 xref: ORDO:75326 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050828 ! artery disease is_a: DOID:5679 ! retinal disease is_a: DOID:9000062 ! Retinal Hemorrhage is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:0111548 name: ring dermoid of cornea alt_id: MIM:180550 def: "A corneal disease characterized by annular limbal dermoids with corneal and conjunctival extension that has_material_basis_in heterozygous mutation in the PITX2 gene on chromosome 4q25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15591271 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7387508 "DO"] synonym: "Bilateral, annular limbal dermoids with corneal and conjunctival extension" EXACT [] synonym: "RDC" EXACT [] synonym: "Ring dermoid syndrome" EXACT [] xref: GARD:9696 xref: MESH:C535684 xref: ORDO:91481 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10124 ! corneal disease is_a: DOID:2658 ! dermoid cyst is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:0111549 name: aplasia of lacrimal and salivary glands alt_id: MIM:180920 def: "A syndrome characterized by irritable eyes, epiphora, xerostomia, variable aplasia or hypoplasia of the lacrimal, parotid, submandibular, and sublingual glands, and absence of the lacrimal puncta that has_material_basis_in heterozygous mutation in the FGF10 gene on chromosome 5p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15654336 "DO"] synonym: "absence of salivary glands" NARROW [] synonym: "ALSG" EXACT [] synonym: "congenital absence of lacrimal puncta and salivary glands" EXACT [] synonym: "parotid aplasia or hypoplasia" NARROW [] xref: ICD9CM:750.21 xref: MESH:C562407 xref: ORDO:86815 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10854 ! salivary gland disease is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111550 name: scalp-ear-nipple syndrome alt_id: MIM:181270 def: "An ectodermal dysplasia characterized by cutis aplasia of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears that has_material_basis_in heterozygous mutation in the KCTD1 gene on chromosome 18q11.2. (DO)" [https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23541344 "DO"] synonym: "Finlay-Marks syndrome" EXACT [] synonym: "hereditary syndrome of lumpy scalp, odd ears and rudimentary nipples" EXACT [] synonym: "SENS" EXACT [] synonym: "SEN syndrome" EXACT [] xref: GARD:159 xref: MESH:C536623 xref: ORDO:2036 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10892 ! hypospadias is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:0111551 name: neurogenic scapuloperoneal syndrome Kaeser type alt_id: MIM:181400 def: "A myopathy characterized by adult onset of foot dorsiflexor weakness, peroneal muscle weakness, scapuloperoneal weakness, and shoulder girdle muscle atrophy that has_material_basis_in heterozygous mutation in DES on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17439987 "DO"] synonym: "Kaeser syndrome" EXACT [] synonym: "SCAPULOPERONEAL SYNDROME, NEUROGENIC TYPE, OF KAESER" EXACT [] synonym: "scapuloperoneal syndrome type Kaeser" EXACT [] synonym: "SCPNK" EXACT [] synonym: "Stark-Kaeser syndrome" EXACT [] xref: GARD:10312 xref: MESH:C566695 xref: ORDO:85146 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:423 ! myopathy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0111552 name: scapuloperoneal spinal muscular atrophy alt_id: MIM:271220 def: "A motor neuron disease characterized by progressive scapuloperoneal atrophy and weakness, laryngeal palsy, congenital absence of muscles and in some cases developmental abnormalities of the bones that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1520078 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20037587 "DO"] synonym: "neurogenic scapuloperoneal amyotrophy, New England type" EXACT [] synonym: "scapuloperoneal form of spinal muscular atrophy" EXACT [] synonym: "scapuloperoneal neuronopathy" EXACT [] synonym: "spinal muscular atrophy, scapuloperoneal form" EXACT [] synonym: "SPSMA" EXACT [] xref: EFO:1001992 xref: GARD:10314 xref: ICD10CM:G12.1 xref: MIM:181405 xref: ORDO:431255 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111553 name: spondyloepiphyseal dysplasia Maroteaux type def: "An osteochondrodysplasia characterized by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, platyspondyly, severe brachydactyly, and pelvic abnormalities that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20503319 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2229114 "DO"] synonym: "pseudo-Morquio syndrome, type 2" EXACT [] synonym: "SED, Maroteaux type" EXACT [] synonym: "spondyloepiphyseal dysplasia of Maroteaux" EXACT [] xref: GARD:994 xref: MIM:184095 xref: ORDO:263482 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:0111554 name: spondylometaphyseal dysplasia Kozlowski type alt_id: MIM:184252 def: "A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19232556 "DO"] synonym: "dysmorphism arthrogryposis skeletal maturation advanced" EXACT [] synonym: "Jequier-Kozlowski syndrome" EXACT [] synonym: "skeletal dysplasia Jequier-Kozlowski type" EXACT [] synonym: "SMDK" EXACT [] synonym: "SMD, Kozlowski Type" EXACT [] xref: GARD:3047 xref: MESH:C535797 xref: ORDO:93314 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:0111555 name: Alkuraya-Kucinskas syndrome def: "A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in the KIAA1109 gene on chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25558065 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29290337 "DO"] synonym: "ALKKUCS" EXACT [] xref: MIM:617822 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:0111556 name: steatocystoma multiplex def: "A sebaceous gland disease characterized by the presence of multiple benign sebaceous cysts that has_material_basis_in heterozygous mutation in the KRT17 gene on chromosome 17q21.2. (DO)" [https://ghr.nlm.nih.gov/condition/steatocystoma-multiplex "DO", https://www.ncbi.nlm.nih.gov/pubmed/18098741 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9008238 "DO"] synonym: "Multiple Sebaceous Cyst" EXACT [] synonym: "Multiple Sebaceous Cysts" EXACT [] synonym: "Multiplex Steatocystomas" EXACT [] synonym: "Steatocystoma Multiplices" EXACT [] xref: GARD:5003 xref: MESH:D062685 xref: MIM:184500 xref: ORDO:841 is_a: DOID:0050449 ! pachyonychia congenita is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:0111557 name: Charcot-Marie-Tooth disease type 2A2B def: "A Charcot-Marie-Tooth disease type 2 characterized by onset of peripheral neuropathy in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in the MFN2 gene on chromosome 1p36.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21715711 "DO"] synonym: "AR-CMT2, Ouvrier type" EXACT [] synonym: "autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, autosomal recessive, type 2A2B" EXACT [] synonym: "axonal Charcot-Marie-Tooth disease, type 2A2, autosomal recessive" NARROW [] synonym: "axonal Charcot-Marie-Tooth disease, type 2A2B" EXACT [] synonym: "CMT2A2B" EXACT [] synonym: "SEOAN due to MFN2 deficiency" EXACT [] synonym: "severe early-onset axonal neuropathy due to MFN2 deficiency" EXACT [] xref: MIM:617087 xref: ORDO:90118 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004551 ! Charcot-Marie-Tooth Disease Type 2A2 [Term] id: DOID:0111558 name: Charcot-Marie-Tooth disease type 2DD def: "A Charcot-Marie-Tooth disease type 2 characterized by neuropathy mainly affecting the lower limbs that has_material_basis_in heterozygous mutation in the ATP1A1 gene on chromosome 1p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29499166 "DO"] synonym: "ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2" EXACT [] synonym: "ATP1A1-related CMT2" EXACT [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2DD" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2DD" EXACT [] synonym: "CMT2DD" EXACT [] xref: MIM:618036 xref: ORDO:521414 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111559 name: Charcot-Marie-Tooth disease type 2EE def: "A Charcot-Marie-Tooth disease type 2 characterized by slowly progressive axonal neuropathy primarily affecting the lower limbs with onset in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the MPV17 gene on chromosome 2p23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26437932 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30298599 "DO"] synonym: "Charcot-Marie-Tooth disease, axonal, type 2EE" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 2EE" EXACT [] synonym: "CMT2EE" EXACT [] xref: MIM:618400 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111560 name: Charcot-Marie-Tooth disease type 1G def: "A Charcot-Marie-Tooth disease type 1 characterized by distal muscle weakness and atrophy with onset in the first or second decade of life that has_material_basis_in heterozygous mutation in the PMP2 gene on chromosome 8q21.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26828946 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27009151 "DO"] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1G" EXACT [] synonym: "Charcot-Marie-Tooth Disease Type IG" EXACT [] synonym: "CMT1G" EXACT [] synonym: "PMP2-related Charcot-Marie-Tooth disease type 1" EXACT [] synonym: "PMP2-related Charcot-Marie-Tooth neuropathy type 1" EXACT [] synonym: "PMP2-related CMT1" EXACT [] synonym: "PMP2-related hereditary motor and sensory neuropathy type 1" EXACT [] xref: EFO:0010266 xref: MIM:618279 xref: ORDO:476394 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 is_a: DOID:0050736 ! autosomal dominant disease created_by: slaulede creation_date: 2019-01-15T17:45:30Z [Term] id: DOID:0111561 name: stiff skin syndrome alt_id: MIM:184900 def: "A skin disease characterized by hard, thick skin, usually over the entire body, limiting joint mobility and causing flexion contractures that has_material_basis_in heterozygous mutation in the FBN1 gene on chromosome 15q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20375004 "DO"] synonym: "SSKS" EXACT [] xref: GARD:5025 xref: MESH:C566112 xref: NCI:C118636 xref: ORDO:2833 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006836 ! Contracture is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111562 name: overhydrated hereditary stomatocytosis alt_id: MIM:185000 def: "A macrocytic anemia characterized by macrocytic hemolytic anemia and monovalent cation leak from red blood cells that has_material_basis_in heterozygous mutation in the RHAG gene on chromosome 6p12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18931342 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21849667 "DO"] synonym: "OHS" EXACT [] synonym: "OHST" EXACT [] synonym: "potassium-sodium disorder of erythrocyte" EXACT [] synonym: "RHAG-RELATED CONDITION" BROAD [] synonym: "Stomatocytosis I" EXACT [] synonym: "stomatocytosisIOHST" EXACT [] xref: GARD:4183 xref: MESH:C566111 xref: ORDO:3203 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2361 ! macrocytic anemia is_a: DOID:589 ! congenital hemolytic anemia is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9006795 ! Acid-Base Imbalance created_by: rgd creation_date: 2017-07-11T00:00:00Z [Term] id: DOID:0111563 name: Sturge-Weber syndrome def: "A vascular disease characterized by intracranial vascular anomaly, leptomeningeal angiomatosis, facial cutaneous vascular malformations, and glaucoma that has_material_basis_in somatic mutation in the GNAQ gene on chromosome 9q21.2. (DO)" [https://ghr.nlm.nih.gov/condition/sturge-weber-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15165630 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23656586 "DO"] synonym: "angiomatosis oculoorbital-thalamic syndrome" EXACT [] synonym: "encephalofacial angiomatosis" EXACT [] synonym: "encephalofacial hemangiomatosis syndrome" EXACT [] synonym: "encephalotrigeminal angiomatosis" EXACT [] synonym: "fourth phacomatosis" EXACT [] synonym: "leptomeningeal angiomatosis" EXACT [] synonym: "meningeal capillary angiomatosis" EXACT [] synonym: "meningofacial angiomatosis-cerebral calcification syndrome" EXACT [] synonym: "meningo oculo facial angiomatosis" EXACT [] synonym: "Neuroretinoangiomatosis" EXACT [] synonym: "Parkes Weber Syndrome" EXACT [] synonym: "PKWS" EXACT [] synonym: "Sturge's Syndrome" EXACT [] synonym: "Sturge Disease" EXACT [] synonym: "Sturge Kalischer Weber Syndrome" EXACT [] synonym: "Sturge syndrome" EXACT [] synonym: "Sturge Weber Dimitri syndrome" EXACT [] synonym: "Sturge-Weber-Krabbe angiomatosis" EXACT [] synonym: "Sturge Weber Krabbe syndrome" EXACT [] synonym: "Sturge-Weber phakomatosis" EXACT [] synonym: "SWS" EXACT [] xref: GARD:7706 xref: MESH:D013341 xref: MIM:185300 xref: MONDO:0008501 xref: NCI:C3391 xref: ORDO:3205 is_a: DOID:255 ! hemangioma is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9004079 ! Angiomatosis [Term] id: DOID:0111564 name: hypoplastic or aplastic tibia with polydactyly alt_id: MESH:C535564 alt_id: MESH:C566046 def: "A syndrome characterized by preaxial polydactyly of the hands and feet and hypoplasia or aplasia of the tibia that has_material_basis_in heterozygous mutation in the SHH regulatory region (ZRS) located in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19847792 "DO"] synonym: "absence of tibia with polydactyly" EXACT [] synonym: "absent tibia-polydactyly syndrome" EXACT [] synonym: "hypoplasia of tibia with polydactyly" EXACT [] synonym: "hypoplasia or aplasia of tibia with polydactyly" EXACT [] synonym: "hypoplastic tibiae-postaxial polydactyly syndrome" EXACT [] synonym: "polydactyly with absent tibia" EXACT [] synonym: "THYP" EXACT [] synonym: "tibial hemimelia-polydactyly-triphalangeal thumbs with fibular dimelia" EXACT [] synonym: "tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome" EXACT [] synonym: "tibial hypoplasia or aplasia with polydactyly" EXACT [] synonym: "Werner mesomelic syndrome" EXACT [] synonym: "WMS" EXACT [] xref: GARD:8309 xref: MIM:188740 xref: ORDO:3332 xref: ORDO:988 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia is_a: DOID:9000751 ! Absence of Tibia [Term] id: DOID:0111565 name: trichodontoosseous syndrome alt_id: MIM:190320 def: "A syndrome characterized by curly kinky hair at birth, enamel hypoplasia, taurodontism, thickening of cortical bones and variable expression of craniofacial morphology that has_material_basis_in heterozygous mutation in the DLX3 gene on chromosome 17q21.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22671030 "DO"] synonym: "TDO" EXACT [] synonym: "TDO syndrome" EXACT [] synonym: "tricho-dento-osseous syndrome" EXACT [] xref: GARD:7799 xref: MESH:C536549 xref: ORDO:3352 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111566 name: familial isolated trichomegaly alt_id: DOID:9001840 def: "An eyelid disease characterized by prolonged anagen phase of the eyelash hairs resulting in extremely long eyelashes that has_material_basis_in homozygous or compound heterozygous mutation in the FGF5 gene on chromosome 4q21.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24989505 "DO"] synonym: "long eyelashes" EXACT [] synonym: "TCMGLY" EXACT [] synonym: "trichomegaly" EXACT [] xref: MIM:190330 xref: ORDO:411788 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:421 ! hair disease is_a: DOID:530 ! eyelid disease [Term] id: DOID:0111567 name: retinal vasculopathy with cerebral leukodystrophy alt_id: MIM:192315 def: "A vascular disease characterized by adult onset of microvascular endotheliopathy resulting in central nervous system degeneration with progressive loss of vision, stroke, motor impairment, and cognitive decline that has_material_basis_in heterozygous mutation in TREX1 on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17660820 "DO"] synonym: "CRV" EXACT [] synonym: "hereditary cerebroretinal vasculopathy" EXACT [] synonym: "retinal vasculopathy and cerebral leukoencephalopathy" EXACT [] synonym: "retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations" EXACT [] synonym: "RVCL" EXACT [] synonym: "RVCL-S" EXACT [] synonym: "RVCLS" EXACT [] synonym: "vascular retinopathy with cerebral and renal involvement and Raynaud and migraine phenomena" EXACT [] xref: GARD:1217 xref: MESH:C566007 xref: ORDO:247691 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:178 ! vascular disease is_a: DOID:5679 ! retinal disease is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:0111568 name: congenital vertical talus alt_id: MIM:192950 def: "A connective tissue disease characterized by dislocation of the talonavicular joint with vertical orientation of the talus and rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot that has_material_basis_in heterozygous mutation in the HOXD10 gene on chromosome 2q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15368082 "DO"] synonym: "Charcot-Marie-Tooth Disease, Foot Deformity of" EXACT [] synonym: "congenital convex foot" EXACT [] synonym: "congenital rocker-bottom foot" EXACT [] synonym: "CVT" EXACT [] synonym: "pes valgus, congenital convex" EXACT [] synonym: "rocker-bottom foot" EXACT [] synonym: "rocker-bottom foot deformity" EXACT [] xref: GARD:5488 xref: MESH:C536345 xref: MESH:C564179 xref: ORDO:178382 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10595 ! Charcot-Marie-Tooth disease is_a: DOID:65 ! connective tissue disease is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:0111569 name: autosomal dominant vitreoretinochoroidopathy alt_id: MIM:193220 def: "A hereditary retinal dystrophy characterized by abnormal chorioretinal hypopigmentation and hyperpigmentation typically lying between the vortex veins and the ora serrata for 360 degrees and other ocular developmental anomalies that has_material_basis_in heterozygous mutation in the BEST1 gene on chromosome 11q12.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15452077 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7065944 "DO"] synonym: "ADVIRC" EXACT [] synonym: "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma" BROAD [] synonym: "microcornea, rod-cone dystrophy, cataract, and posterior staphyloma 2" NARROW [] synonym: "MRCS" BROAD [] synonym: "MRCS2" NARROW [] synonym: "Vitreoretinochoroidopathy" EXACT [] synonym: "Vitreoretinochoroidopathy, Autosomal Dominant, With Nanophthalmos" EXACT [] synonym: "Vitreoretinochoroidopathy dominant" EXACT [] synonym: "vitreoretinochoroidopathy with microcornea, glaucoma, and cataract" EXACT [] synonym: "VRCP" EXACT [] synonym: "VRCP autosomal dominant" EXACT [] xref: GARD:5507 xref: MESH:C536352 xref: ORDO:3086 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1417 ! choroid disease is_a: DOID:8500 ! hereditary retinal dystrophy [Term] id: DOID:0111570 name: snowflake vitreoretinal degeneration alt_id: MIM:193230 def: "An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18179896 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4812083 "DO"] synonym: "snowflake degeneration in hereditary vitreoretinal degeneration" EXACT [] synonym: "SVD" EXACT [] synonym: "vitreoretinal degeneration, Snowflake type" EXACT [] xref: GARD:9706 xref: MESH:C536677 xref: ORDO:91496 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:8466 ! retinal degeneration is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:0111571 name: Weyers acrofacial dysostosis alt_id: MIM:193530 def: "An acrofacial dysostosis characterized by dental anomalies, nail dystrophy, postaxial polydactyly, and mild short stature that has_material_basis_in heterozygous mutation in the genes EVC2 or EVC on chromosome 4p16.2. (DO)" [https://ghr.nlm.nih.gov/condition/weyers-acrofacial-dysostosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/10700184 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16404586 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9399901 "DO"] synonym: "acrodental dysostosis of Weyers" EXACT [] synonym: "acrofacial dysostosis of Weyers" EXACT [] synonym: "acrofacial dysostosis, Weyers type" EXACT [] synonym: "Curry Hall syndrome" EXACT [] synonym: "WAD" EXACT [] synonym: "Weyers acrodental dysostosis" EXACT [] xref: GARD:497 xref: MESH:C536695 xref: ORDO:952 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:0111572 name: familial woolly hair syndrome def: "A hair disease characterized by fine and tightly curled hair that grows slowly and stops growing after a few inches with hair shafts that display trichorrhexis nodosa and tapered ends. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19365138 "DO"] synonym: "congenital woolly hair" EXACT [] synonym: "familial wooly hair syndrome" EXACT [] synonym: "frizzy hair syndrome" EXACT [] synonym: "hereditary woolly hair syndrome" EXACT [] synonym: "hereditary wooly hair syndrome" EXACT [] synonym: "woolly hair" EXACT [] synonym: "woolly hair syndrome" EXACT [] synonym: "wooly hair" EXACT [] xref: GARD:5597 xref: MESH:C536745 xref: ORDO:170 is_a: DOID:421 ! hair disease created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:0111573 name: autosomal dominant woolly hair def: "A familial woolly hair syndrome that has_material_basis_in heterozygous mutation in the KRT74 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20346438 "DO"] synonym: "ADWH" EXACT [] xref: MIM:194300 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111572 ! familial woolly hair syndrome [Term] id: DOID:0111574 name: autosomal recessive woolly hair 3 def: "A familial woolly hair syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the KRT24 gene on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26160856 "DO"] synonym: "ARWH3" EXACT [] synonym: "WOOLLY HAIR, AUTOSOMAL RECESSIVE 3, WITH HYPOTRICHOSIS" EXACT [] xref: MIM:616760 xref: MONDO:0014765 is_a: DOID:4535 ! hypotrichosis is_a: DOID:9001083 ! Autosomal Recessive Woolly Hair [Term] id: DOID:0111575 name: dehydrated hereditary stomatocytosis def: "A hemolytic anemia characterized by altered intracellular cation content and cellular dehydration of erythocytes resulting in increased mean corpuscular hemoglobin concentrations and altered cell shapes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22529292 "DO"] synonym: "desiccytosis gardos" EXACT [] synonym: "DHS" EXACT [] synonym: "hereditary desiccytosis" EXACT [] synonym: "hereditary xerocytosis" EXACT [] synonym: "xerocytosis gardos" EXACT [] xref: GARD:5623 xref: MESH:C536764 xref: ORDO:3202 is_a: DOID:589 ! congenital hemolytic anemia created_by: slaulede creation_date: 2018-04-16T17:54:10Z [Term] id: DOID:0111576 name: dehydrated hereditary stomatocytosis 1 alt_id: MIM:194380 def: "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the PIEZO1 gene on chromosome 16q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22529292 "DO"] synonym: "dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema" EXACT [] synonym: "Dehydrated Hereditary Stomatocytosis, Pseudohyperkalemia, and Perinatal Edema" EXACT [] synonym: "dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and-or perinatal edema hemophagocytic lymphohistiocytosis" EXACT [] synonym: "DHS1" EXACT [] synonym: "familial pseudohyperkalemia 1, due to red cell leak" EXACT [] synonym: "pseudohyperkalemia Edinburgh" EXACT [] synonym: "PSHK1" EXACT [] xref: MESH:C566369 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111575 ! dehydrated hereditary stomatocytosis is_a: DOID:9001961 ! Hyperkalemia is_a: DOID:9008386 ! Hydrops Fetalis [Term] id: DOID:0111577 name: dehydrated hereditary stomatocytosis 2 def: "A dehydrated hereditary stomatocytosis that has_material_basis_in heterozygous mutation in the KCNN4 gene on chromosome 19q13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26148990 "DO"] synonym: "DHS2" EXACT [] xref: MIM:616689 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111575 ! dehydrated hereditary stomatocytosis [Term] id: DOID:0111578 name: Gillespie syndrome alt_id: MIM:206700 alt_id: OMIA:002097 def: "A syndrome characterized by iris hypoplasia, congenital hypotonia, cerebellar hypoplasia, variably cognitive impairment, and ataxia that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the ITPR1 gene on chromosome 3p26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27108797 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27108798 "DO"] synonym: "aniridia, cerebellar ataxia, and mental deficiency" EXACT [] synonym: "aniridia, cerebellar ataxia, and mental retardation" EXACT [] synonym: "aniridia-cerebellar ataxia-intellectual disability syndrome" EXACT [] synonym: "aniridia, cerebellar ataxia, mental deficiency" EXACT [] synonym: "GLSP" EXACT [] synonym: "ITPR1-RELATED SYNDROMIC AND NON-SYNDROMIC HEREDITARY ATAXIA" BROAD [] synonym: "partial aniridia-cerebellar ataxia-mental retardation" EXACT [] synonym: "partial aniridia-cerebellar ataxia-oligophrenia" EXACT [] synonym: "spinocerebellar ataxia, ITPR1-related" NARROW [] xref: GARD:13 xref: MESH:C536370 xref: ORDO:1065 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:12271 ! aniridia is_a: DOID:225 ! syndrome [Term] id: DOID:0111579 name: asthma, nasal polyps, and aspirin intolerance alt_id: MIM:208550 def: "A respiratory system disease characterized by asthma, aspirin-induced bronchoconstriction, and nasal polyps. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15496426 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15806396 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9393345 "DO"] synonym: "ASA Triad" EXACT [] synonym: "ASA TRIAD ASTHMA, ASPIRIN-INDUCED, SUSCEPTIBILITY TO" NARROW [] synonym: "ASTHMA AND NASAL POLYPS" NARROW [] xref: MESH:C565935 is_a: DOID:0080822 ! aspirin-induced respiratory disease is_a: DOID:9001472 ! Nasal Polyps [Term] id: DOID:0111580 name: Behr syndrome alt_id: MIM:210000 def: "A nervous system disease characterized by early-onset optic atrophy, ataxia, pyramidal signs, spasticity, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the OPA1 gene on chromosome 3q29. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6747661 "DO"] synonym: "Abortive cerebellar ataxia (BEHRS)" EXACT [] synonym: "BEHRS" EXACT [] synonym: "infantile hereditary optic atrophy, Behr complicated form of" EXACT [] synonym: "infantile hereditary optic atrophy, with neurologic abnormalities" EXACT [] synonym: "optic atrophy in early childhood, associated with ataxia, spasticity, mental retardation, and posterior column sensory loss" EXACT [] xref: GARD:849 xref: MESH:C537669 xref: NCI:C177251 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9004866 ! Ataxia is_a: DOID:9006743 ! Spasm created_by: mtutaj creation_date: 2019-05-01T11:58:09Z [Term] id: DOID:0111581 name: C syndrome alt_id: DOID:9007360 def: "A syndrome characterized by trigonocephaly, psychomotor retardation, hypotonia, variable cardiac defects, redundant skin, and dysmorphic facial features that has_material_basis_in heterozygous mutation in the CD96 gene on chromosome 3q13.1-q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17847009 "DO"] synonym: "Opitz C trigonocephaly" EXACT [] synonym: "Opitz trigonocephaly C syndrome" EXACT [] synonym: "Opitz trigonocephaly syndrome" EXACT [] synonym: "OTCS" EXACT [] synonym: "trigonocephaly C syndrome" EXACT [] synonym: "trigonocephaly syndrome" EXACT [] xref: GARD:5978 xref: MESH:C537418 xref: MIM:211750 xref: MONDO:0008893 xref: ORDO:1308 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:37 ! skin disease is_a: DOID:9001487 ! Facies is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:0111582 name: hereditary arterial and articular multiple calcification syndrome alt_id: MIM:211800 def: "A syndrome characterized by adult onset of calcification of arteries in the lower extremities and of the hand and foot capsule joints that has_material_basis_in homozygous or compound heterozygous mutation in the NT5E gene on chromosome 6q14.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21288095 "DO"] synonym: "ACDC" EXACT [] synonym: "arterial calcification and distal joint calcification" EXACT [] synonym: "arterial calcification due to CD73 deficiency" EXACT [] synonym: "arterial calcification due to deficiency of CD73" EXACT [] synonym: "calcification of joints and arteries" EXACT [] synonym: "CALJA" EXACT [] xref: GARD:10762 xref: MESH:C565891 xref: NCI:C201591 xref: ORDO:289601 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:178 ! vascular disease is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy [Term] id: DOID:0111583 name: carboxypeptidase N deficiency def: "A plasma protein metabolism disease characterized by low levels of carboxypeptidase N in the serum that may result in episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity that has_material_basis_in homozygous or compound heterozygous mutation in the CPN1 gene on chromosome 10q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12560874 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7437116 "DO"] synonym: "anaphylotoxin inactivator deficiency" EXACT [] synonym: "CPND" EXACT [] synonym: "deficiency of carboxypeptidase B" EXACT [] xref: MESH:C562876 xref: MIM:212070 xref: MONDO:08910 xref: NCI:C132196 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2345 ! plasma protein metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111584 name: dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome alt_id: MESH:C535580 alt_id: MESH:C535703 def: "A syndrome characterized by dilated cardiomyopathy and hypergonadotropic hypogonadism that has_material_basis_in heterozygous mutation in the LMNA gene on chromosome 1q22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12927431 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19283854 "DO"] synonym: "cardiogenital syndrome" EXACT [] synonym: "CARDIOMYOPATHY, DILATED, WITH PREMATURE OVARIAN FAILURE" EXACT [] synonym: "cardiomyopathy eith primary testicular failure" EXACT [] synonym: "CARDIOMYOPATHY WITH PRIMARY TESTICULAR FAILURE" EXACT [] synonym: "congestive cardiomyopathy-hypergonadotropic hypogonadism syndrome" EXACT [] synonym: "congestive cardiomyopathy with hypergonadotropic hypogonadism" EXACT [] synonym: "congestive or dilated cardiomyopathy with hypergonadotropic hypogonadism" EXACT [] synonym: "dilated cardiomyopathy with hypergonadotropic hypogonadism" EXACT [] synonym: "genital anomaly with cardiomyopathy" EXACT [] synonym: "Malouf syndrome" EXACT [] synonym: "Najjar syndrome" EXACT [] xref: GARD:3373 xref: MIM:212112 xref: NCI:C174217 xref: ORDO:2229 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:225 ! syndrome is_a: DOID:9006138 ! Laminopathies created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:0111585 name: carnitine-acylcarnitine translocase deficiency alt_id: MIM:212138 def: "A lipid metabolism disorder characterized by impaired long-chain fatty acid ozidation resulting in fasting-induced hypoketotic hypoglycemia, hyperammonemia, elevated creatine kinase and transaminases, dicarboxylic aciduria, very low free carnitine and abnormal acylcarnitine profile with marked elevation of the long-chain acylcarnitines that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A20 gene on chromosome 3p21.31. (DO)" [https://ghr.nlm.nih.gov/condition/carnitine-acylcarnitine-translocase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/15363639 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9399886 "DO"] synonym: "CACTD" EXACT [] synonym: "CACT Deficiency" EXACT [] synonym: "Carnitine-Acylcarnitine Carrier Deficiency" EXACT [] xref: GARD:1123 xref: MESH:C562812 xref: NCI:C133086 xref: ORDO:159 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:0111586 name: Martsolf syndrome 1 def: "A syndrome characterized by intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in RAB3GAP2 on chromosome 1q41. (DO)" [https://ghr.nlm.nih.gov/condition/rab18-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/16532399 "DO", https://www.ncbi.nlm.nih.gov/pubmed/677168 "DO"] synonym: "MARTS1" EXACT [] xref: MIM:212720 is_a: DOID:9006949 ! Martsolf Syndrome [Term] id: DOID:0111587 name: Gordon Holmes syndrome alt_id: MIM:212840 def: "An inherited metabolic disorder characterized by progressive cognitive decline, dementia, hypogonadotropic hypogonadism, and variable movement disorders resulting from disordered ubiquitination that has_material_basis_in homozygous or compound heterozygous mutation in the RNF216 gene on chromosome 7p22.1. (DO)" [https://ghr.nlm.nih.gov/condition/gordon-holmes-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23656588 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25841028 "DO"] synonym: "CAHH" EXACT [] synonym: "cerebellar ataxia and hypogonadotropic hypogonadism" EXACT [] synonym: "cerebellar ataxia-hypogonadism syndrome" EXACT [] synonym: "deficiency of luteinizing hormone-releasing hormone with ataxia" EXACT [] synonym: "GDHS" EXACT [] synonym: "LHRH deficiency and ataxia" EXACT [] synonym: "luteinizing hormone-releasing hormone deficiency with ataxia" EXACT [] xref: MESH:C565870 xref: ORDO:1173 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111588 name: Greenberg dysplasia alt_id: MIM:215140 def: "An inherited metabolic disorder characterized by a defect in cholesterol biosynthesis resulting in fetal hydrops, severe shortening of all long bones with a moth-eaten radiographic appearance, platyspondyly, disorganization of chondroosseous calcification, and ectopic ossification centers that has_material_basis_in homozygous or compound heterozygous mutation in LBR on chromosome 1q42.12. (DO)" [https://ghr.nlm.nih.gov/condition/greenberg-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/18382993 "DO"] synonym: "autosomal recessive lethal chondrodystrophy with congenital hydrops" EXACT [] synonym: "GRBGD" EXACT [] synonym: "Greenberg Skeletal Dysplasia" EXACT [] synonym: "HEM Dysplasia" EXACT [] synonym: "HEM skeletal dysplasia" EXACT [] synonym: "hydropic chondrodystrophy and prenatally lethal type" EXACT [] synonym: "hydrops-ectopic calcification-moth-eaten skeletal dysplasia" EXACT [] synonym: "hydrops-ectopic calcification-motheaten syndrome" EXACT [] synonym: "moth-eaten skeletal dysplasia" EXACT [] synonym: "skeletal dysplasia, Greenberg type" EXACT [] xref: GARD:8754 xref: MESH:C535858 xref: ORDO:1426 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:182 ! calcinosis is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9008386 ! Hydrops Fetalis [Term] id: DOID:0111589 name: COACH syndrome def: "A syndrome characterized by autosomal recessive inheritance of cerebellar vermis hypo/aplasia, oligophrenia, ataxia, ocular coloboma, and hepatic fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in one of 3 genes (TMEM67, CC2D2A, RPGRIP1L). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19574260 "DO"] synonym: "cerebellar vermis hypo-aplasia, oligophrenia, ataxia congenital, coloboma, and hepatic fibrosis" EXACT [] synonym: "cerebellar vermis hypo-aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis" EXACT [] synonym: "Gentile syndrome" EXACT [] synonym: "Joubert syndrome with congenital hepatic fibrosis" EXACT [] synonym: "Joubert syndrome with hepatic defect" EXACT [] synonym: "Joubert syndrome with ocular defect" NARROW [] synonym: "JS-H" EXACT [] xref: GARD:1410 xref: MESH:C536430 xref: ORDO:1454 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12270 ! coloboma is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome is_a: DOID:409 ! liver disease is_a: DOID:9004866 ! Ataxia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111590 name: Cohen syndrome alt_id: MIM:216550 alt_id: OMIA:001428 def: "A syndrome characterized by facial dysmorphism, microcephaly, truncal obesity, impaired intellectual development, progressive retinopathy, and intermittent congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13B gene on chromosome 8q22.2. (DO)" [https://ghr.nlm.nih.gov/condition/cohen-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12730828 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24334764 "DO"] synonym: "CHS1" EXACT [] synonym: "COH" EXACT [] synonym: "COH1" EXACT [] synonym: "hypotonia, obesity, and prominent incisors" EXACT [] synonym: "Norio syndrome" EXACT [] synonym: "obesity-hypotonia syndrome" EXACT [] synonym: "Pepper syndrome" EXACT [] synonym: "prominent incisors-obesity-hypotonia syndrome" EXACT [] synonym: "trapped neutrophil syndrome" EXACT [] synonym: "VPS13B-RELATED CONDITION" EXACT [] xref: GARD:6126 xref: MESH:C536438 xref: ORDO:193 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:11830 ! myopia is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9970 ! obesity [Term] id: DOID:0111591 name: congenital heart defects, hamartomas of tongue, and polysyndactyly alt_id: MESH:C535849 alt_id: MESH:C537137 def: "A syndrome characterized by congenital heart defects, hamartomas of tongue, and polysyndactyly that has_material_basis_in homozygous or compound heterozygous mutation in the WDPCP gene on chromosome 2p15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1516223 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25427950 "DO"] synonym: "CHDTHP" EXACT [] synonym: "heart defect, tongue hamartoma and polysyndactyly" EXACT [] synonym: "heart defect-tongue hamartoma-polysyndactyly syndrome" EXACT [] synonym: "Orstavik Lindemann Solberg syndrome" EXACT [] synonym: "Ostravik-Lindemann-Solberg syndrome" EXACT [] synonym: "WDPCP-RELATED CONDITION" BROAD [] xref: GARD:4166 xref: MIM:217085 xref: ORDO:1338 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11193 ! syndactyly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9005873 ! Tongue Neoplasms is_a: DOID:9007253 ! Hamartoma [Term] id: DOID:0111592 name: plasminogen deficiency type I alt_id: MIM:217090 alt_id: OMIA:002020 def: "A syndrome characterized by decreased serum plasminogen activity, decreased plasminogen antigen levels, and chronic mucosal pseudomembranous lesions typically manifesting as ligneous conjunctivitis that has_material_basis_in homozygous or compound heterozygous mutation in PLG on chromosome 6q26. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-plasminogen-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/12850227 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16849641 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9242524 "DO"] synonym: "DYSPLASMINOGENEMIA" RELATED [] synonym: "LIGNEOUS CONJUNCTIVITIS" RELATED [] synonym: "ligneous membranitis" RELATED [] synonym: "plasminogen deficiency, type 1" EXACT [] synonym: "plasminogen deficiency, type II" RELATED [] synonym: "PLG-RELATED CONDITION" BROAD [] xref: GARD:4380 xref: ICD10CM:E88.02 xref: MESH:C566897 xref: ORDO:722 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:6195 ! conjunctivitis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111593 name: distal arthrogryposis type 10 alt_id: MIM:187370 def: "A distal arthrogryposis that has_material_basis_in heterozygous mutation in the chromosome region 2q31.3-q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17103435 "DO"] synonym: "DA10" EXACT [] synonym: "plantar flexion contracture" EXACT [] synonym: "short Achilles tendon" EXACT [] synonym: "short tendo calcaneus" EXACT [] xref: MESH:C566069 xref: ORDO:251515 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111594 name: distal arthrogryposis type 5D def: "A distal arthrogryposis characterized by severe camptodactyly of the hands, mild camptodactyly of the toes, extension contractures of the knee, and distinctive facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ECEL1 gene on chromosome 2q37.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23261301 "DO"] synonym: "DA5D" EXACT [] synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [] synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [] xref: MIM:615065 xref: ORDO:329457 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111595 name: congenital contractural arachnodactyly alt_id: MIM:121050 def: "A distal arthrogryposis characterized by contractures, arachnodactyly, scoliosis, and crumpled ears that has_material_basis_in heterozygous mutation in the FBN2 gene on chromosome 5q23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4552107 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9106527 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9714438 "DO"] synonym: "Beals-Hecht syndrome" EXACT [] synonym: "Beals syndrome" EXACT [] synonym: "CCA" EXACT [] synonym: "contractural arachnodactyly, Beals type" EXACT [] synonym: "DA9" EXACT [] synonym: "distal arthrogryposis type 9" EXACT [] synonym: "ear anomalies-contractures-dysplasia of bone with kyphoscoliosis" EXACT [] synonym: "FBN2-RELATED CONDITION" BROAD [] synonym: "multiple contractures with arachnodactyly" EXACT [] xref: MESH:C536211 xref: NCI:C129865 xref: ORDO:115 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:9005367 ! Arachnodactyly is_a: DOID:9006836 ! Contracture [Term] id: DOID:0111596 name: distal arthrogryposis type 1 alt_id: DOID:9001339 alt_id: MESH:C565097 alt_id: MIM:126050 def: "A distal arthrogryposis characterized by autosomal domiant inheritance of contractures of the distal regions of the hands and feet with no facial involvement or other anomalies. (DO)" [https://ghr.nlm.nih.gov/condition/distal-arthrogryposis-type-1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7039311 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8923936 "DO"] synonym: "AMCD1" EXACT [] synonym: "DA1" EXACT [] synonym: "digitotalar dysmorphism" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type 1" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type I" EXACT [] synonym: "hereditary ulnar drift" EXACT [] xref: GARD:787 xref: MESH:C535378 xref: ORDO:1146 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111597 name: distal arthrogryposis type 1A def: "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12592607 "DO"] synonym: "DA1A" EXACT [] xref: MIM:108120 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111596 ! distal arthrogryposis type 1 [Term] id: DOID:0111598 name: distal arthrogryposis type 1B def: "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the MYBPC1 gene on chromosome 12q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20045868 "DO"] synonym: "DA1B" EXACT [] xref: MIM:614335 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111596 ! distal arthrogryposis type 1 [Term] id: DOID:0111599 name: distal arthrogryposis type 2B def: "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9012416 "DO"] synonym: "arthrogryposis multiplex congenita, type 2B" EXACT [] synonym: "ARTHYRGRYPOSIS, DISTAL, TYPE 2B" RELATED [] synonym: "DA2B" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type 2B" EXACT [] synonym: "distal arthrogryposis multiplex congenita type II, with craniofacial abnormalities" EXACT [] synonym: "Freeman-Sheldon syndrome variant" EXACT [] synonym: "FSSV" EXACT [] synonym: "Sheldon-Hall syndrome" EXACT [] synonym: "SHS" EXACT [] xref: MESH:C538400 is_a: DOID:9006523 ! Distal Arthrogryposis Type 2 [Term] id: DOID:0111600 name: distal arthrogryposis type 2B1 def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNI2 gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12592607 "DO"] synonym: "DA2B1" EXACT [] xref: MIM:601680 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111599 ! distal arthrogryposis type 2B [Term] id: DOID:0111601 name: distal arthrogryposis type 2B2 def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the TNNT3 gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12865991 "DO"] synonym: "DA2B2" EXACT [] xref: MIM:618435 xref: MONDO:0032750 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111599 ! distal arthrogryposis type 2B [Term] id: DOID:0111602 name: distal arthrogryposis type 2B3 def: "A distal arthrogryposis type 2B that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16642020 "DO"] synonym: "DA2B3" EXACT [] synonym: "distal arthrogryposis type 2B3 (Sheldon-Hall)" EXACT [] xref: MIM:618436 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111599 ! distal arthrogryposis type 2B [Term] id: DOID:0111603 name: distal arthrogryposis type 7 alt_id: MIM:158300 def: "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15282353 "DO"] synonym: "DA7" EXACT [] synonym: "Dutch-Kentucky syndrome" EXACT [] synonym: "Hecht-Beals syndrome" EXACT [] synonym: "Hecht Syndrome" EXACT [] synonym: "inability to completely open mouth and short finger-flexor tendons" EXACT [] synonym: "MYH8-RELATED CONDITION" BROAD [] synonym: "trismus-pseudocamptodactyly" EXACT [] synonym: "trismus-pseudocamptodactyly syndrome" EXACT [] xref: GARD:2621 xref: MESH:C535857 xref: ORDO:3377 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006588 ! Trismus is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111604 name: Freeman-Sheldon syndrome def: "A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures. (DO)" [https://ghr.nlm.nih.gov/condition/freeman-sheldon-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21032118 "DO"] synonym: "craniocarpotarsal dysplasia" EXACT [] synonym: "craniocarpotarsal dystrophy" EXACT [] synonym: "FSS" EXACT [] synonym: "whistling face syndrome" EXACT [] synonym: "whistling face-windmill vane hand syndrome" EXACT [] xref: MESH:C535483 xref: NCI:C98931 xref: ORDO:2053 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:225 ! syndrome is_a: DOID:2339 ! Crouzon syndrome [Term] id: DOID:0111605 name: distal arthrogryposis type 2A def: "A Freeman-Sheldon syndrome that has_material_basis_in heterozygous mutation in the MYH3 gene on chromosome 17p13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16642020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO"] synonym: "DA2A" EXACT [] synonym: "distal arthrogryposis type 2A (Freeman-Sheldon)" EXACT [] xref: MIM:193700 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111604 ! Freeman-Sheldon syndrome [Term] id: DOID:0111606 name: autosomal recessive Whistling face syndrome def: "A Freeman-Sheldon syndrome that has autosomal recessive inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20964128 "DO"] xref: GARD:100024 xref: MIM:277720 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111604 ! Freeman-Sheldon syndrome [Term] id: DOID:0111607 name: distal arthrogryposis type 3 alt_id: MIM:114300 def: "A distal arthrogryposis characterized by distal arthrogryposis with short stature and cleft palate that has_material_basis_in heterozygous mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24726473 "DO"] synonym: "camptodactyly, cleft palate, and clubfoot" EXACT [] synonym: "camptodactyly-cleft palate-clubfoot syndrome" EXACT [] synonym: "DA3" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type 2a" EXACT [] synonym: "distal arthrogryposis multiplex congenita, type IIa" EXACT [] synonym: "Gordon syndrome" EXACT [] xref: GARD:2553 xref: MESH:C537288 xref: ORDO:376 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11836 ! clubfoot is_a: DOID:674 ! cleft palate is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111608 name: distal arthrogryposis type 5 alt_id: MIM:108145 def: "A distal arthrogryposis characterized by distal arthrogryposis with ocular abnormalities that has_material_basis_in heterozygous gain of function mutation in the PIEZO2 gene on chromosome 18p11.22-p11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23487782 "DO"] synonym: "arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome" EXACT [] synonym: "arthrogryposis with oculomotor limitation and electroretinal abnormalities" EXACT [] synonym: "DA5" EXACT [] synonym: "DAIIB" EXACT [] synonym: "distal arthrogryposis type IIb" EXACT [] synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [] synonym: "oculomelic amyoplasia" EXACT [] xref: GARD:4047 xref: MESH:C537737 xref: MONDO:0007158 xref: ORDO:1154 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:539 ! ophthalmoplegia is_a: DOID:5679 ! retinal disease [Term] id: DOID:0111609 name: distal arthrogryposis type 6 alt_id: MIM:108200 def: "A distal arthrogryposis characterized by distal arthrogryposis with sensorineural deafness. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5539065 "DO"] synonym: "arthrogryposis and sensorineural deafness" EXACT [] synonym: "arthrogryposis-like hand anomaly and sensorineural deafness" EXACT [] synonym: "arthrogryposis-like hand anomaly-sensorineural deafness syndrome" EXACT [] synonym: "DA6" EXACT [] synonym: "familial hand abnormality and sensori-neural deafness" EXACT [] xref: GARD:784 xref: MESH:C535386 xref: ORDO:1144 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111610 name: distal arthrogryposis type 4 alt_id: MIM:609128 def: "A distal arthrogryposis characterized by distal arthrogryposis with severe scoliosis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19571066 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7039311 "DO"] synonym: "arthrogryposis-severe scoliosis syndrome" EXACT [] synonym: "arthrogryposis with severe scoliosis" EXACT [] synonym: "DA4" EXACT [] synonym: "DAIID" EXACT [] synonym: "distal arthrogryposis type IID" EXACT [] xref: MESH:C563791 xref: ORDO:65720 is_a: DOID:0050646 ! distal arthrogryposis [Term] id: DOID:0111611 name: autosomal recessive spinocerebellar ataxia 4 alt_id: MIM:607317 def: "An autosomal recessive cerebellar ataxia characterized by ataxic gait with spasticity, hyperreflexia of the lower limbs, and mitochondrial defects that has_material_basis_in homozygous or compound heterozygous mutation in the VPS13D gene on chromosome 1p36.22-p36.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29604224 "DO"] synonym: "autosomal recessive cerebellar ataxia-saccadic intrusion syndrome" EXACT [] synonym: "SCA24" EXACT [] synonym: "SCAR4" EXACT [] synonym: "SCASI" EXACT [] synonym: "spinocerebellar ataxia 24" EXACT [] synonym: "spinocerebellar ataxia with saccadic intrusions" EXACT [] synonym: "VPS13D-RELATED CONDITION" EXACT [] xref: GARD:4952 xref: MESH:C537310 xref: ORDO:95434 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111612 name: autosomal recessive spinocerebellar ataxia 3 alt_id: MIM:271250 def: "An autosomal recessive cerebellar ataxia characterized by spinocerebellar ataxia with optic and cochlear degeneration that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 6p23-p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11175288 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4154794 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4434170 "DO"] synonym: "autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome" EXACT [] synonym: "autosomal recessive spinocerebellar ataxia type 3" EXACT [] synonym: "SCABD" EXACT [] synonym: "SCAR3" EXACT [] synonym: "spinocerebellar ataxia with blindness and deafness" EXACT [] xref: GARD:9971 xref: MESH:C537309 xref: ORDO:95433 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111613 name: autosomal recessive spinocerebellar ataxia 23 def: "An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24658003 "DO"] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency" EXACT [] synonym: "SCAR23" EXACT [] xref: MIM:616949 xref: ORDO:404493 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111614 name: autosomal recessive spinocerebellar ataxia 22 alt_id: MIM:616948 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the VWA3B gene on chromosome 2q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26157035 "DO"] synonym: "SCAR22" EXACT [] xref: MESH:C542540 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111615 name: autosomal recessive spinocerebellar ataxia 24 def: "An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the UBA5 gene on chromosome 3q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26872069 "DO"] synonym: "SCAR24" EXACT [] synonym: "UBA5-RELATED CONDITION" BROAD [] xref: MIM:617133 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111616 name: autosomal recessive spinocerebellar ataxia 27 def: "An autosomal recessive cerebellar ataxia characterized by adult onset of progressive gait difficulties and other cerebellar signs that has_material_basis_in homozygous or compound heterozygous mutation in the GDAP2 gene on chromosome 1p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30084953 "DO"] synonym: "SCAR27" EXACT [] xref: EFO:0010248 xref: MIM:618369 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111617 name: autosomal recessive spinocerebellar ataxia 6 alt_id: MIM:608029 def: "An autosomal recessive cerebellar ataxia characterized by onset in infancy of nonprogressive cerebellar ataxia without intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 20q11-q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12811539 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4003033 "DO"] synonym: "autosomal recessive spinocerebellar ataxia type 6" EXACT [] synonym: "infantile nonprogressive cerebellar ataxia, autosomal recessive" EXACT [] synonym: "infantile-onset autosomal recessive nonprogressive cerebellar ataxia" EXACT [] synonym: "Norwegian infantile onset ataxia" EXACT [] synonym: "SCAR6" EXACT [] xref: GARD:4954 xref: MESH:C537312 xref: ORDO:284332 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111618 name: autosomal recessive spinocerebellar ataxia 8 alt_id: MESH:C579934 alt_id: MIM:610743 def: "An autosomal recessive cerebellar ataxia characterized by slowly progressive neurodegeneration resulting in gait ataxia and other cerebellar signs, spasticity, secondary musculoskeletal abnormalities, and ocular movement anomalies that has_material_basis_in homozygous or compound heterozygous mutation in SYNE1 on chromosome 6q25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17159980 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27086870 "DO"] synonym: "Arca1" EXACT [] synonym: "autosomal recessive ataxia, Beauce type" EXACT [] synonym: "Autosomal Recessive Cerebellar Ataxia Type 1" EXACT [] synonym: "recessive ataxia of Beauce" EXACT [] synonym: "SCAR8" EXACT [] synonym: "SYNE1-related autosomal recessive cerebellar ataxia" EXACT [] xref: GARD:12234 xref: MESH:C565188 xref: ORDO:88644 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia [Term] id: DOID:0111619 name: combined D-2- and L-2-hydroxyglutaric aciduria def: "A 2-hydroxyglutaric aciduria characterized by neonatal-onset encephalopathy with severe hypotonia, intractable seizures, respiratory distress, and lack of psychomotor development resulting in early death that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A1 gene on chromosome 22q11.21. (DO)" [https://ghr.nlm.nih.gov/condition/2-hydroxyglutaric-aciduria "DO", https://www.ncbi.nlm.nih.gov/pubmed/10963100 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23561848 "DO"] synonym: "combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia" EXACT [] synonym: "combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria" EXACT [] synonym: "combined D,L-2-hydroxyglutaric aciduria" EXACT [] synonym: "D2L2AD" EXACT [] synonym: "D,L-2-HGA" EXACT [] synonym: "D,L-2-hydroxyglutaric acidemia" EXACT [] synonym: "D,L-2-hydroxyglutaric aciduria" EXACT [] synonym: "SLC25A1-RELATED CONDITION" BROAD [] xref: MIM:615182 xref: ORDO:356978 is_a: DOID:0050573 ! 2-hydroxyglutaric aciduria is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111620 name: corneal dystrophy-perceptive deafness syndrome alt_id: MIM:217400 def: "A syndrome characterized by congenital corneal endothelial dystrophy and progressive, postlingual sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLC4A11 gene on chromosome 20p13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17220209 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5312820 "DO"] synonym: "CDPD" EXACT [] synonym: "CDPD1" EXACT [] synonym: "congenital corneal dystrophy, progressive sensorineural deafness" EXACT [] synonym: "Corneal Dystrophy and Perceptive Deafness" EXACT [] synonym: "corneal dystrophy and sensorineural deafness" EXACT [] synonym: "corneal dystrophy with progressive deafness" EXACT [] synonym: "corneal endothelial dystrophy and perceptive deafness" EXACT [] synonym: "Harboyan syndrome" EXACT [] xref: GARD:1529 xref: MESH:C535473 xref: ORDO:1490 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy created_by: rgd creation_date: 2018-01-17T17:46:52Z [Term] id: DOID:0111621 name: Temtamy syndrome alt_id: MIM:218340 def: "A syndrome characterized by variable craniofacial dysmorphism, ocular coloboma, seizures, and brain abnormalities including partial or complete absence of the corpus callosum that has_material_basis_in [zygosity of] mutation in the C12ORF57 gene on chromosome 12p13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23453666 "DO"] synonym: "craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome" EXACT [] synonym: "Craniofacial dysmorphism with ocular coloboma absent corpus callosum and aortic dilatation" EXACT [] synonym: "Dysmorphism, corpus callosum agenesis and colobomas" EXACT [] synonym: "mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum" EXACT [] synonym: "Temtamy-Shalash syndrome" EXACT [] synonym: "TEMTYS" EXACT [] xref: GARD:5688 xref: MESH:C536959 xref: NCI:C148371 xref: ORDO:1777 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2019-07-09T08:33:00Z [Term] id: DOID:0111622 name: ACTH-independent macronodular adrenal hyperplasia def: "A primary hyperaldosteronism characterized by multiple bilateral adrenocortical nodules that cause a striking enlargement of the adrenal gland and production of an excess of cortisol. (DO)" [https://ghr.nlm.nih.gov/condition/primary-macronodular-adrenal-hyperplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/16215323 "DO"] synonym: "Cushing syndrome due to macronodular adrenal hyperplasia" EXACT [] synonym: "massive macronodular adrenocortical disease" EXACT [] synonym: "MMAD" EXACT [] xref: EFO:0009041 xref: GARD:10824 xref: MIM:PS219080 xref: ORDO:189427 is_a: DOID:446 ! primary hyperaldosteronism created_by: rgd creation_date: 2018-02-07T14:46:31Z [Term] id: DOID:0111623 name: ACTH-independent macronodular adrenal hyperplasia 1 def: "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12727968 "DO"] synonym: "ACTH-independent adrenal Cushing syndrome, somatic" EXACT [] synonym: "ACTH-independent Cushing syndrome" EXACT [] synonym: "ACTH-independent macronodular adrenocortical hyperplasia" EXACT [] synonym: "adrenal Cushing syndrome, due to AIMAH" EXACT [] synonym: "adrenocorticotropic hormone-independent macronodular adrenal hyperplasia" EXACT [] synonym: "AIMAH" EXACT [] synonym: "AIMAH1" EXACT [] synonym: "corticotropin-independent macronodular adrenal hyperplasia" EXACT [] synonym: "primary macronodular adrenal hyperplasia" EXACT [] xref: MESH:C565662 xref: MIM:219080 xref: MONDO:0020735 xref: OMIA:001937 is_a: DOID:0111622 ! ACTH-independent macronodular adrenal hyperplasia is_a: DOID:9005158 ! Cushing Syndrome [Term] id: DOID:0111624 name: ACTH-independent macronodular adrenal hyperplasia 2 def: "An ACTH-independent macronodular adrenal hyperplasia that has_material_basis_in a combination of autosomal dominant and second hit somatic mutation in the ARMC5 gene on chromosome 16p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24283224 "DO"] synonym: "AIMAH2" EXACT [] synonym: "ARMC5-RELATED CONDITION" EXACT [] synonym: "MACRONODULAR ADRENAL HYPERPLASIA 2" EXACT [] synonym: "primary macronodular adrenal hyperplasia" EXACT [] xref: EFO:0009148 xref: MIM:615954 is_a: DOID:0111622 ! ACTH-independent macronodular adrenal hyperplasia is_a: DOID:9005158 ! Cushing Syndrome [Term] id: DOID:0111625 name: ventriculomegaly - cystic kidney disease def: "A syndrome characterized by onset in utero of dilated cerebral ventricles and microscopic renal tubular cysts that has_material_basis_in homozygous or compound heterozygous mutation in the CRB2 gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2478019 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25557780 "DO"] synonym: "congenital nephrosis-cerebral ventriculomegaly syndrome" EXACT [] synonym: "CRB2-RELATED CONDITION" BROAD [] synonym: "cystic kidney disease with ventriculomegaly" EXACT [] synonym: "VMCKD" EXACT [] xref: MESH:C565657 xref: MIM:219730 xref: MONDO:0009063 xref: ORDO:443988 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9009131 ! Ventriculomegaly [Term] id: DOID:0111626 name: D-glyceric aciduria alt_id: MIM:220120 def: "An inherited metabolic disorder characterized by impaired serine and fructose metabolism resulting in elevated excretion of D-glyceric acid that has_material_basis_in homozygous or compound heterozygous mutation in the GLYCTK gene on chromosome 3p21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20949620 "DO"] synonym: "deficiency of glycerate kinase" EXACT [] synonym: "D-glycerate kinase deficiency" EXACT [] synonym: "D-Glyceric Acidemia" EXACT [] synonym: "D-Glycericacidemia" EXACT [] synonym: "glycerate kinase deficiency" EXACT [] xref: GARD:234 xref: ICD10CM:E72.59 xref: MESH:C535767 xref: NCI:C128804 xref: ORDO:128804 xref: ORDO:941 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0111627 name: DOORS syndrome alt_id: MIM:220500 def: "A syndrome characterized by sensorineural deafness, onychodystrophy, osteodystrophy, seizures, and intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. (DO)" [https://ghr.nlm.nih.gov/condition/doors-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/1132883 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24291220 "DO"] synonym: "autosomal recessive deafness-onychodystrophy syndrome" EXACT [] synonym: "brachydactyly due to absence of distal phalanges" EXACT [] synonym: "deafness, onychodystrophy, osteodystrophy, and mental retardation syndrome" EXACT [] synonym: "deafness, onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome" EXACT [] synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome" EXACT [] synonym: "deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome" EXACT [] synonym: "Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome" EXACT [] synonym: "deafness-onychoosteodystrophy-intellectual disability syndrome" EXACT [] synonym: "digitorenocerebral syndrome" EXACT [] synonym: "DOORS" EXACT [] synonym: "DOOR syndrome" EXACT [] synonym: "DRC syndrome" EXACT [] synonym: "Eronen syndrome" EXACT [] xref: GARD:1685 xref: MESH:C563052 xref: ORDO:79500 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: gthayman creation_date: 2019-04-10T05:17:17Z [Term] id: DOID:0111628 name: high myopia-sensorineural deafness syndrome def: "A syndrome characterized by severe myopia and moderate to profound, bilateral, progressive sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the SLITRK6 gene on chromosome 13q31.1. (DO)" [https://ghr.nlm.nih.gov/condition/deafness-and-myopia-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23543054 "DO"] synonym: "deafness and myopia" EXACT [] synonym: "deafness and myopia syndrome" EXACT [] synonym: "DFNMYP" EXACT [] xref: GARD:12844 xref: MIM:221200 xref: ORDO:363396 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9002189 ! High Myopia is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2019-07-11T13:26:12Z [Term] id: DOID:0111629 name: dihydropyrimidinase deficiency alt_id: MIM:222748 def: "A pyrimidine metabolic disorder characterized by a defect in the degradation of uracil and thymine resulting in elevated levels of 5,6-dihydrouracil and 5,6-dihydrothymine in urine that has_material_basis_in homozygous or compound heterozygous mutation in the DPYS gene on chromosome 8q22.3. (DO)" [https://ghr.nlm.nih.gov/condition/dihydropyrimidinase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/29054612 "DO"] synonym: "DIHYDROPYRIMIDINURIA" EXACT [] synonym: "DPH deficiency" EXACT [] synonym: "DPYSD" EXACT [] synonym: "DPYS deficiency" EXACT [] synonym: "DPYS-RELATED CONDITION" EXACT [] xref: GARD:12347 xref: MESH:C562815 xref: ORDO:38874 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050832 ! pyrimidine metabolic disorder [Term] id: DOID:0111630 name: familial erythrocytosis 8 def: "A primary polycythemia characterized by erythrocytosis and in some cases hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the BPGM gene on chromosome 7q33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2542247 "DO"] synonym: "Bisphosphoglycerate Mutase Deficiency" EXACT [] synonym: "BISPHOSPHOGLYCEROMUTASE DEFICIENCY" EXACT [] synonym: "BPGM DEFICIENCY" EXACT [] synonym: "diphosphoglycerate mutase deficiency of erythrocyte" EXACT [] synonym: "DPGM deficiency" EXACT [] synonym: "ECYT8" EXACT [] synonym: "hemolytic anemia due to diphosphoglycerate mutase deficiency" EXACT [] xref: MIM:222800 xref: ORDO:714 is_a: DOID:10780 ! primary polycythemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:0111631 name: familial erythrocytosis 7 def: "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in either the HBA2 or HBA1 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10676771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5913291 "DO"] synonym: "alpha-globin type erythrocytosis" EXACT [] synonym: "alpha-globin type polycythemia" EXACT [] synonym: "ECYT7" EXACT [] synonym: "ERYTHROCYTOSIS 7" EXACT [] xref: MIM:617981 is_a: DOID:10780 ! primary polycythemia [Term] id: DOID:0111632 name: familial erythrocytosis 6 def: "A primary polycythemia characterized by high oxygen affinity hemoglobin and compensatory polycythemia that has_material_basis_in heterozygous mutation in HBB on chromosome 11p15.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10676771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17795074 "DO"] synonym: "beta-globin type erythrocytosis" EXACT [] synonym: "beta-globin type polycythemia" EXACT [] synonym: "ECYT6" EXACT [] synonym: "erythrocytosis 6" EXACT [] xref: MIM:617980 is_a: DOID:10780 ! primary polycythemia created_by: slaulede creation_date: 2018-06-18T00:00:00Z [Term] id: DOID:0111633 name: congenital sucrase-isomaltase deficiency alt_id: MIM:222900 def: "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1. (DO)" [https://ghr.nlm.nih.gov/condition/congenital-sucrase-isomaltase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/3925457 "DO"] synonym: "congenital sucrase-isomaltose malabsorption" EXACT [] synonym: "congenital sucrose intolerance" EXACT [] synonym: "congenital sucrose-isomaltase malabsorption" EXACT [] synonym: "Congenital Sucrose-Isomaltose Malabsorption" EXACT [] synonym: "CSID" EXACT [] synonym: "disaccharide intolerance" EXACT [] synonym: "Disaccharide intolerance, 1" EXACT [] synonym: "disaccharide intolerance I" EXACT [] synonym: "SI deficiency" EXACT [] synonym: "SI-RELATED CONDITION" EXACT [] synonym: "sucrase-isomaltase deficiency" EXACT [] xref: GARD:7710 xref: ICD10CM:E74.31 xref: MESH:C538139 xref: NCI:C128190 xref: ORDO:35122 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0111634 name: autosomal recessive nonsyndromic deafness 99 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual, severe to profound sensorineural hearing loss without vestibular dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM132E gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12673573 "DO"] synonym: "autosomal recessive deafness 99" EXACT [] synonym: "DFNB99" EXACT [] xref: MIM:618481 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111635 name: autosomal recessive nonsyndromic deafness 57 def: "An autosomal recessive nonsyndromic deafness characterized by symmetric bilateral moderate to severe hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the PDZD7 gene on chromosome 10q24.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29048736 "DO"] synonym: "autosomal recessive deafness-57" EXACT [] synonym: "DFNB57" EXACT [] xref: MIM:618003 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111636 name: autosomal recessive nonsyndromic deafness 113 def: "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the CEACAM16 gene on chromosome 19q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29703829 "DO"] synonym: "autosomal recessive deafness 113" EXACT [] synonym: "DFNB113" EXACT [] xref: MIM:618410 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111637 name: autosomal recessive nonsyndromic deafness 112 def: "An autosomal recessive nonsyndromic deafness characterized by postlingual progressive sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the BDP1 gene on chromosome 5q13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24312468 "DO"] synonym: "autosomal recessive deafness 112" EXACT [] synonym: "DFNB112" EXACT [] xref: MIM:618257 xref: MONDO:0032639 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111638 name: autosomal recessive nonsyndromic deafness 100 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual onset of profound sensorineural deafness without vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the PPIP5K2 gene on chromosome 5q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29590114 "DO"] synonym: "autosomal recessive deafness 100" EXACT [] synonym: "DFNB100" EXACT [] xref: MIM:618422 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111639 name: autosomal recessive nonsyndromic deafness 109 def: "An autosomal recessive nonsyndromic deafness characterized by bilateral congenital severe to profound sensorineural hearing loss and vestibular dysplasia without balance or movement issues that has_material_basis_in homozygous or compound heterozygous mutation in the ESRP1 gene on chromosome 8q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29107558 "DO"] synonym: "autosomal recessive deafness-109" EXACT [] synonym: "DFNB109" EXACT [] xref: MIM:618013 xref: MONDO:0033202 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111640 name: autosomal recessive nonsyndromic deafness 111 def: "An autosomal recessive nonsyndromic deafness characterized by early-onset, moderate to severe sensorineural hearing loss with no vestibular involvement that has_material_basis_in homozygous or compound heterozygous mutation in the MPZL2 gene on chromosome 11q23.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29961571 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29982980 "DO"] synonym: "autosomal recessive deafness 111" EXACT [] synonym: "DFNB111" EXACT [] synonym: "MPZL2-RELATED CONDITION" EXACT [] xref: MIM:618145 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111641 name: autosomal recessive nonsyndromic deafness 94 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the NARS2 gene on chromosome 11q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25807530 "DO"] synonym: "autosomal recessive deafness 94" EXACT [] synonym: "DFNB94" EXACT [] xref: MIM:618434 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111642 name: autosomal recessive nonsyndromic deafness 114 def: "An autosomal recessive nonsyndromic deafness characterized by congenital profound sensorineural hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the GRAP gene on chromosome 17p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30610177 "DO"] synonym: "autosomal recessive deafness 114" EXACT [] synonym: "DFNB114" EXACT [] synonym: "hearing loss, autosomal recessive 114" EXACT [] xref: MIM:618456 xref: MONDO:0032761 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: slaulede creation_date: 2018-04-12T13:58:33Z [Term] id: DOID:0111643 name: autosomal recessive nonsyndromic deafness 115 def: "An autosomal recessive nonsyndromic deafness characterized by onset in early childhood of severe sensorineural hearing impairment that has_material_basis_in homozygous or compound heterozygous mutation in the SPNS2 gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30973865 "DO"] synonym: "autosomal recessive deafness 115" EXACT [] synonym: "DFNB115" EXACT [] synonym: "hearing loss, autosomal recessive 115" EXACT [] xref: MIM:618457 xref: MONDO:0032762 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:0111644 name: autosomal recessive nonsyndromic deafness 110 def: "An autosomal recessive nonsyndromic deafness characterized by prelingual, bilateral hearing loss that has_material_basis_in homozygous or compound heterozygous mutation in the COCH gene on chromosome 14q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29449721 "DO"] synonym: "autosomal recessive deafness-110" EXACT [] synonym: "DFNB110" EXACT [] xref: MIM:618094 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: slaulede creation_date: 2019-07-02T08:14:05Z [Term] id: DOID:0111645 name: Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome alt_id: MIM:608105 def: "An infancy electroclinical syndrome characterized by onset of focal seizures in infancy and exercise-induced dystonia in childhood that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31257402 "DO"] synonym: "EPRPDC" EXACT [] synonym: "RE-PED-WC" EXACT [] synonym: "Rolandic epilepsy, with paroxysmal exercise-induced dystonia and writer's cramp" EXACT [] synonym: "Rolandic-type focal motor epilepsy and exercise-induced dystonia" EXACT [] xref: MESH:C535499 xref: ORDO:163727 is_a: DOID:0050703 ! infancy electroclinical syndrome is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3329 ! benign epilepsy with centrotemporal spikes is_a: DOID:543 ! dystonia [Term] id: DOID:0111646 name: congenital lactase deficiency alt_id: MIM:223000 def: "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3. (DO)" [https://ghr.nlm.nih.gov/condition/lactose-intolerance "DO", https://www.ncbi.nlm.nih.gov/pubmed/16400612 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5419986 "DO"] synonym: "CLD" EXACT [] synonym: "congenital alactasia" EXACT [] synonym: "congenital alactasia syndrome" EXACT [] synonym: "congenital lactose intolerance" EXACT [] synonym: "congenital lactose malabsorption" EXACT [] synonym: "disaccharide Intolerance II" EXACT [] xref: ICD10CM:E73.0 xref: MESH:C562600 xref: ORDO:53690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:0111647 name: Schopf-Schulz-Passarge syndrome alt_id: MIM:224750 def: "An ectodermal dysplasia characterized by multiple eyelid apocrine hidrocystomas, palmoplantar keratoderma, hypotrichosis, hypodontia and nail dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the WNT10A gene on chromosome 2q35. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19559398 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2947556 "DO"] synonym: "eccrine tumors-ectodermal dysplasia" EXACT [] synonym: "eccrine tumors with ectodermal dysplasia" EXACT [] synonym: "keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [] synonym: "keratosis palmoplantaris with cystic eyelids, hypodontia, and hypotrichosis" EXACT [] synonym: "palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [] synonym: "palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome" EXACT [] synonym: "SSPS" EXACT [] xref: MESH:C565607 xref: ORDO:50944 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13714 ! anodontia is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2173 ! eyelid benign neoplasm is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:0111648 name: ectopia lentis with ectopia of pupil alt_id: MIM:225200 def: "An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20702823 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7696232 "DO"] synonym: "ADAMTSL4-RELATED CONDITION" BROAD [] synonym: "Ectopia Lentis et Pupillae" EXACT [] xref: MESH:C563268 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:238 ! pupil disease is_a: DOID:9004201 ! Ectopia Lentis created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:0111649 name: ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome def: "An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15805154 "DO", https://www.ncbi.nlm.nih.gov/pubmed/6302256 "DO"] synonym: "CDH3-RELATED CONDITION" BROAD [] synonym: "ectodermal dysplasia, ectrodactyly, and macular dystrophy" EXACT [] synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy" EXACT [] synonym: "ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome" EXACT [] synonym: "EEMS" EXACT [] synonym: "EEM Syndrome" EXACT [] xref: GARD:2078 xref: MESH:C536190 xref: MIM:225280 xref: MONDO:0009155 xref: ORDO:1897 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4448 ! macular degeneration is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111650 name: ectodermal dysplasia 13 def: "An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27049303 "DO"] synonym: "ECTD13" EXACT [] synonym: "ectodermal dysplasia 13, hair/tooth type" EXACT [] xref: MIM:617392 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111651 name: ectodermal dysplasia 15 def: "An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30425301 "DO"] synonym: "ECTD15" EXACT [] synonym: "Ectodermal Dysplasia 15, Hypohidrotic/Hair Type" EXACT [] xref: MIM:618535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111652 name: ectodermal dysplasia 12 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27838789 "DO"] synonym: "ECTD12" EXACT [] synonym: "ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type" EXACT [] xref: MIM:617337 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111653 name: ectodermal dysplasia 11A def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17354266 "DO"] synonym: "ECTD11A" EXACT [] synonym: "ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant" EXACT [] synonym: "HED" EXACT [] xref: MIM:614940 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111654 name: ectodermal dysplasia 11B def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11780064 "DO"] synonym: "ECTD11B" EXACT [] synonym: "ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive" EXACT [] xref: MIM:614941 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111655 name: pure hair and nail ectodermal dysplasia def: "An ectodermal dysplasia characterized by onychodystrophy and severe hypotrichosis without nonectodermal or other ectodermal manifestations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23063621 "DO"] synonym: "Ectodermal Dysplasia, Pure Hair-Nail Type" EXACT [] xref: MESH:C566592 xref: ORDO:69084 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4123 ! nail disease is_a: DOID:421 ! hair disease [Term] id: DOID:0111656 name: ectodermal dysplasia 9 alt_id: OMIA:002157 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23063621 "DO"] synonym: "ECTD9" EXACT [] synonym: "ectodermal dysplasia 9, hair/nail type" EXACT [] xref: MIM:614931 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111657 name: ectodermal dysplasia 5 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15675952 "DO"] synonym: "ECTD5" EXACT [] synonym: "ectodermal dysplasia 5, hair/nail type" EXACT [] xref: MIM:614927 xref: MONDO:0013973 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111658 name: ectodermal dysplasia 4 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT85 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16525032 "DO"] synonym: "ECTD4" EXACT [] synonym: "ectodermal dysplasia 4, hair/nail type" EXACT [] xref: MIM:602032 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111659 name: ectodermal dysplasia 6 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 17p12-q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17107387 "DO"] synonym: "ECTD6" EXACT [] synonym: "ectodermal dysplasia 6, hair/nail type" EXACT [] xref: MIM:614928 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111660 name: ectodermal dysplasia 7 def: "A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the KRT74 gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24714551 "DO"] synonym: "ECTD7" EXACT [] synonym: "ectodermal dysplasia 7, hair/nail type" EXACT [] xref: MIM:614929 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111655 ! pure hair and nail ectodermal dysplasia [Term] id: DOID:0111661 name: ectodermal dysplasia 8 def: "An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18184143 "DO", https://www.ncbi.nlm.nih.gov/pubmed/856958 "DO"] synonym: "ECTD8" EXACT [] synonym: "ectodermal dysplasia 8, hair/tooth/nail type" EXACT [] synonym: "Fried's tooth and nail syndrome" EXACT [] xref: MIM:602401 xref: ORDO:99672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0111662 name: ectodermal dysplasia 14 def: "An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27736875 "DO"] synonym: "ECTD14" EXACT [] synonym: "ECTN14" EXACT [] synonym: "ectodermal dysplasia 14, hair/tooth type with hypohidrosis" NARROW [] synonym: "ECTODERMAL DYSPLASIA 14, HAIR/TOOTH TYPE WITH OR WITHOUT HYPOHIDROSIS" EXACT [] synonym: "Ectodermal dysplasia-14 of the hair/tooth type" EXACT [] synonym: "TSPEAR-related disorder of tooth and hair follicle morphogenesis" EXACT [] xref: MIM:618180 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia created_by: slaulede creation_date: 2018-11-09T00:00:00Z [Term] id: DOID:0111663 name: ectodermal dysplasia 10A alt_id: MIM:129490 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10431241 "DO"] synonym: "anhidrotic ectodermal dysplasia 3" EXACT [] synonym: "autosomal dominant ectodermal dysplasia-10A" EXACT [] synonym: "autosomal dominant ectodermal dysplasia 10A, hypohidrotic/hair/tooth type" EXACT [] synonym: "AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA" EXACT [] synonym: "AUTOSOMAL DOMINANT HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME" EXACT [] synonym: "ECTD10A" EXACT [] synonym: "ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT" EXACT [] synonym: "HED" EXACT [] xref: MESH:D053359 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111664 name: ectodermal dysplasia 1 alt_id: MIM:305100 alt_id: OMIA:000543 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8434608 "DO"] synonym: "anhidrotic ectodermal dysplasia 1" EXACT [] synonym: "anhydrotic ectodermal dysplasia 1" EXACT [] synonym: "Christ Siemens Touraine syndrome" EXACT [] synonym: "CST syndrome" EXACT [] synonym: "CST syndromes" EXACT [] synonym: "ECTD1" EXACT [] synonym: "ED1" EXACT [] synonym: "EDA" EXACT [] synonym: "EDA1" EXACT [] synonym: "HED1" EXACT [] synonym: "hypohidrotic ectodermal dysplasia 1" EXACT [] synonym: "XHED" EXACT [] synonym: "XLHED" EXACT [] synonym: "X-linked anhidrotic ectodermal dysplasia" EXACT [] synonym: "X-linked anhydrotic ectodermal dysplasia" EXACT [] synonym: "X-linked ectodermal dysplasia 1, hypohidrotic/hair/tooth type" EXACT [] synonym: "X-linked hypohidrotic ectodermal dysplasia" EXACT [] synonym: "X-linked hypohidrotic ectodermal dysplasia 1" EXACT [] synonym: "X-linked hypohydridic ectodermal dysplasia" EXACT [] xref: MESH:D053358 xref: ORDO:181 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia created_by: rgd creation_date: 2017-03-03T00:00:00Z [Term] id: DOID:0111665 name: ectodermal dysplasia 10B alt_id: MIM:224900 def: "A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10431241 "DO"] synonym: "anhidridic ectodermal dysplasia, autosomal recessive" BROAD [] synonym: "anhidrotic ectodermal dysplasia, autosomal recessive" BROAD [] synonym: "anhydridic ectodermal dysplasia, autosomal recessive" BROAD [] synonym: "anhydrotic ectodermal dysplasia, autosomal recessive" BROAD [] synonym: "AUTOSOMAL RECESSIVE HYPOHIDROTIC ECTODERMAL DYSPLASIA SYNDROME" EXACT [] synonym: "ECTD10B" EXACT [] synonym: "ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive" EXACT [] synonym: "ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE" EXACT [] synonym: "EDA" EXACT [] synonym: "hypohidrotic ectodermal dysplasia, autosomal recessive" BROAD [] xref: MESH:D053360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia [Term] id: DOID:0111666 name: proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome alt_id: MIM:225790 def: "A syndrome characterized by hydranencephaly, glomeruloid vasculopathy of the central nervous system and retinal vessels, diffuse clastic ischemic lesions of the brain stem, basal ganglia, and spinal cord with calcifications, and fetal akinesia with arthrogryposis that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR2 gene on chromosome 14q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20206334 "DO"] synonym: "cerebral proliferative glomeruloid vasculopathy" EXACT [] synonym: "encephaloclastic proliferative vasculopathy" EXACT [] synonym: "EPV" EXACT [] synonym: "Fowler syndrome" EXACT [] synonym: "Fowler vasculopathy" EXACT [] synonym: "Hydranencephaly, Fowler Type" EXACT [] synonym: "hydrocephaly-hydranencephaly due to cerebral vasculopathy" EXACT [] synonym: "proliferative vasculopathy and hydranencephaly/hydrocephaly" EXACT [] synonym: "PVHH" EXACT [] xref: MESH:C565593 xref: ORDO:221126 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:4626 ! hydranencephaly [Term] id: DOID:0111667 name: enterokinase deficiency alt_id: MIM:226200 def: "An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11719902 "DO"] synonym: "congenital enterokinase deficiency" EXACT [] synonym: "congenital enteropathy due to enteropeptidase deficiency" EXACT [] synonym: "deficiency of enteropeptidase" EXACT [] synonym: "enteropeptidase deficiency" EXACT [] synonym: "TMPRSS15-RELATED CONDITION" EXACT [] xref: MESH:C562649 xref: ORDO:168601 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5295 ! intestinal disease is_a: DOID:655 ! inherited metabolic disorder created_by: slaulede creation_date: 2018-07-10T15:38:52Z [Term] id: DOID:0111668 name: Kohlschutter-Tonz syndrome alt_id: MIM:226750 def: "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22424600 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22482807 "DO"] synonym: "amelocerebrohypohidrotic syndrome" EXACT [] synonym: "epilepsy and yellow teeth" EXACT [] synonym: "epilepsy-dementia-amelogenesis imperfecta" EXACT [] synonym: "epilepsy-dementia-amelogenesis imperfecta syndrome" EXACT [] synonym: "epilepsy, dementia, and amelogenesis imperfecta" EXACT [] synonym: "Kohlschutter's syndrome" EXACT [] synonym: "Kohlschutter syndrome" EXACT [] synonym: "KTZS" EXACT [] xref: GARD:3128 xref: MESH:C537213 xref: ORDO:1946 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1307 ! dementia is_a: DOID:1826 ! epilepsy is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:225 ! syndrome [Term] id: DOID:0111669 name: hyaline fibromatosis syndrome alt_id: MIM:228600 def: "A connective tissue disease characterized by abnormal growth of hyalinized fibrous tissue especially around the subcutaneous regions on the scalp, ears, neck, face, hands, and feet, gingival hypertrophy, joint contractures, and osteolytic bone lesions that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR2 gene on chromosome 4q21.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22383261 "DO"] synonym: "Fibromatosis Hyalinica Multiplex Juvenilis" EXACT [] synonym: "Fibromatosis Juvenile Hyaline" EXACT [] synonym: "HFS" EXACT [] synonym: "hyaline fibromatosis syndromes" EXACT [] synonym: "infantile systemic hyalinoses" EXACT [] synonym: "Infantile Systemic Hyalinosis" EXACT [] synonym: "inherited systemic hyalinosis" EXACT [] synonym: "juvenile hyaline fibromatoses" EXACT [] synonym: "juvenile hyalinoses" EXACT [] synonym: "Juvenile Hyalinosis" EXACT [] synonym: "Murray Syndrome" EXACT [] synonym: "Puretic Syndrome" EXACT [] synonym: "Puretic Syndromes" EXACT [] synonym: "systemic hyalinoses" EXACT [] synonym: "systemic hyalinosis" EXACT [] synonym: "systemic juvenile hyalinoses" EXACT [] synonym: "systemic juvenile hyalinosis" EXACT [] xref: MESH:D057770 xref: NCI:C98297 xref: ORDO:498474 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:65 ! connective tissue disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111670 name: primary hyperoxaluria type 1 alt_id: MIM:259900 alt_id: OMIA:001672 def: "A primary hyperoxaluria characterized by failure to transaminate glyoxylate resulting in accumulation of calcium oxalate in various tissues that has_material_basis_in homozygous or compound heterozygous mutation in the AGXT gene on chromosome 2q37.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19479957 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2039493 "DO"] synonym: "alanine-glyoxylate aminotransferase deficiency" EXACT [] synonym: "glycolic aciduria" EXACT [] synonym: "Hepatic AGT Deficiency" EXACT [] synonym: "HP1" EXACT [] synonym: "HYPEROXALURIA, PRIMARY, TYPE I" EXACT [] synonym: "Oxalosis 1" EXACT [] synonym: "oxalosis I" EXACT [] synonym: "peroxisomal alanine glyoxylate aminotransferase deficiency" EXACT [] synonym: "PH1" EXACT [] synonym: "primary hyperoxaluria type I" EXACT [] synonym: "serine:pyruvate aminotransferase deficiency" EXACT [] xref: GARD:2835 xref: MESH:C536414 xref: NCI:C123212 xref: ORDO:93598 is_a: DOID:2977 ! primary hyperoxaluria [Term] id: DOID:0111671 name: primary hyperoxaluria type 2 alt_id: MIM:260000 def: "A primary hyperoxaluria characterized by elevated urinary excretion of oxalate and L-glycerate, recurrent nephrolithiasis and nephrocalcinosis, and end-stage renal disease that has_material_basis_in homozygous or compound heterozygous mutation in the GRHPR gene on chromosome 9p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK2692/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10484776 "DO"] synonym: "D-glycerate dehydrogenase deficiency" EXACT [] synonym: "glyceric aciduria" EXACT [] synonym: "glyoxylate reductase-hydroxypyruvate reductase deficiency" EXACT [] synonym: "HP2" EXACT [] synonym: "L-glyceric aciduria" EXACT [] synonym: "oxalosis 2" EXACT [] synonym: "oxalosis II" EXACT [] synonym: "primary hyperoxaluria type II" EXACT [] xref: GARD:2836 xref: MESH:C536415 xref: NCI:C123213 xref: ORDO:93599 is_a: DOID:2977 ! primary hyperoxaluria [Term] id: DOID:0111672 name: primary hyperoxaluria type 3 def: "A primary hyperoxaluria characterized by recurring calcium oxalate stones that has_material_basis_in homozygous or compound heterozygous mutation in the HOGA1 gene on chromosome 10q24.2. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK316514/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26340091 "DO"] synonym: "HP3" EXACT [] synonym: "PH III" EXACT [] synonym: "primary hyperoxaluria type III" EXACT [] xref: GARD:10738 xref: MIM:613616 xref: MONDO:0013327 xref: NCI:C123214 xref: ORDO:93600 is_a: DOID:2977 ! primary hyperoxaluria [Term] id: DOID:0111673 name: Saul-Wilson syndrome def: "A bone development disease characterized by early developmental delay primarily involving speech, distinct facial features, short stature, brachydactyly, clubfoot deformities, cataracts, and microcephaly that has_material_basis_in heterozygous mutation in the COG4 gene on chromosome 16q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30290151 "DO"] synonym: "MICROCEPHALIC OSTEODYSPLASTIC DYSPLASIA" EXACT [] synonym: "microcephalic osteodysplastic dysplasia, Saul-Wilson type" EXACT [] synonym: "SWILS" EXACT [] xref: MIM:618150 xref: ORDO:85172 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2015-12-08T00:00:00Z [Term] id: DOID:0111674 name: intellectual developmental disorder with short stature and behavioral abnormalities alt_id: MIM:618687 def: "A syndrome characterized by intellectual disability, global developmental delay, short stature, aphasia, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the IQSEC1 gene on chromosome 3p25.2-p25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31607425 "DO"] synonym: "IDDSSBA" EXACT [] xref: EFO:0010652 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111675 name: neurooculocardiogenitourinary syndrome def: "A syndrome characterized by impaired growth and anomalies of the ocular, craniofacial, neurologic, cardiovascular, genitourinary, skeletal, and gastrointestinal systems that has_material_basis_in heterozygous mutation in the WDR37 gene on chromosome 10p15.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31327510 "DO"] synonym: "NOCGUS" EXACT [] xref: EFO:0010663 xref: MIM:618652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111676 name: high molecular weight kininogen deficiency alt_id: MIM:228960 def: "A blood coagulation disease characterized by deficiency of high molecular weight kininogen but not of low molecular weight kininogen resulting in abnormal surface-mediated activation of fibrinolysis that has_material_basis_in homozygous or compound heterozygous mutation in the KNG1 gene on chromosome 3q27.3. Both high and low molecular weight kininogen are encoded by the KNG1 gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12576314 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2989293 "DO"] synonym: "congenital high-molecular-weight kininogen deficiency" EXACT [] synonym: "Fitzgerald Trait" EXACT [] synonym: "Flaujeac Factor Deficiency" EXACT [] synonym: "FLAUJEAC TRAIT" NARROW [] synonym: "HMWK Deficiency" EXACT [] synonym: "KININOGEN DEFICIENCY, HIGH MOLECULAR WEIGHT AND LOW MOLECULAR WEIGHT" NARROW [] synonym: "total kininogen deficiency" EXACT [] synonym: "Williams trait" NARROW [] xref: GARD:2684 xref: MESH:C537060 xref: NCI:C98946 xref: ORDO:483 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:0111677 name: familial benign fleck retina alt_id: MIM:228980 def: "A retinal disease characterized by a striking pattern of diffuse, yellow-white, fleck-like lesions extending to the far periphery of the retina but with no apparent visual or electrophysiologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the PLA2G5 gene on chromosome 1p36.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22137173 "DO"] synonym: "FRFB" EXACT [] xref: MESH:C565564 xref: ORDO:363989 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:0111678 name: hereditary folate malabsorption alt_id: MIM:229050 def: "A vitamin metabolic disorder characterized by impaired intestinal folate absorption and impaired transport of folate into the central nervous system resulting in megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits that has_material_basis_in homozygous or compound heterozygous mutation in the SLC46A1 gene on chromosome 17q11.2. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-folate-malabsorption "DO", https://www.ncbi.nlm.nih.gov/pubmed/17129779 "DO"] synonym: "congenital defect of folate absorption" EXACT [] synonym: "congenital folate malabsorption" EXACT [] synonym: "folic acid transport defect" EXACT [] xref: GARD:12983 xref: MESH:C562799 xref: NCI:C156424 xref: ORDO:90045 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14026 ! folic acid deficiency anemia is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:0111679 name: glutamate formiminotransferase deficiency def: "A vitamin metabolic disorder characterized by elevated formiminoglutamate in urine and plasma and variable intellectual, developmental, and hematological phenotypes that has_material_basis_in homozygous or compound heterozygous mutation in the FTCD gene on chromosome 21q22.3. (DO)" [https://ghr.nlm.nih.gov/condition/glutamate-formiminotransferase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/12815595 "DO"] synonym: "Arakawa syndrome 1" EXACT [] synonym: "FIGLUria" EXACT [] synonym: "FIGLU-Uria" EXACT [] synonym: "formiminoglutamic acidemia" EXACT [] synonym: "formiminoglutamic aciduria" EXACT [] synonym: "formiminoglutamicaciduria (FIGLU-uria)" EXACT [] synonym: "formiminotransferase cyclodeaminase deficiency" EXACT [] synonym: "formiminotransferase deficiency" EXACT [] synonym: "formiminotransferase deficiency syndrome" EXACT [] synonym: "FTCD deficiency" EXACT [] xref: GARD:9279 xref: MESH:C537425 xref: MIM:229100 xref: MONDO:0009240 xref: ORDO:51208 is_a: DOID:0050718 ! vitamin metabolic disorder is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:0111680 name: essential fructosuria alt_id: DOID:9001168 alt_id: MIM:229800 def: "A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7833921 "DO"] synonym: "Essential benign fructosuria" EXACT [] synonym: "fructokinase deficiency" EXACT [] synonym: "Fructosuria" EXACT [] synonym: "Hepatic fructokinase deficiency" EXACT [] synonym: "Ketohexokinase deficiency" EXACT [] xref: ICD10CM:E74.11 xref: MESH:C538068 xref: ORDO:2056 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000875 ! Fructose Metabolism, Inborn Errors [Term] id: DOID:0111681 name: glutamate-cysteine ligase deficiency def: "An amino acid metabolic disorder characterized by decreased levels of cellular glutathione and gamma-glutamylcysteine and hemolytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the GCLC gene on chromosome 6p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10515893 "DO", https://www.ncbi.nlm.nih.gov/pubmed/5058793 "DO"] synonym: "CNSHA7" EXACT [] synonym: "congenital nonspherocytic hemolytic anemia 7" EXACT [] synonym: "gamma-glutamylcysteine synthetase deficiency" EXACT [] synonym: "hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency" EXACT [] xref: MESH:C565557 xref: MIM:230450 xref: MONDO:0009259 xref: ORDO:33574 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:0111682 name: diffuse cystic renal dysplasia alt_id: MIM:601331 def: "A cystic kidney disease characterized by nonsyndromic diffuse cystic dysplasia of the kidneys that has_material_basis_in heterozygous mutation in the BICC1 gene on chromosome 10q21.1. The same mutation maybe found in unaffected parents suggesting incomplete penetrance of the disorder or that additional environmental factors are required for development of the disorder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21922595 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8725780 "DO"] synonym: "CYSRD" EXACT [] synonym: "susceptibility to cystic renal dysplasia" EXACT [] xref: GARD:4658 xref: MESH:C537755 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2975 ! cystic kidney disease [Term] id: DOID:0111683 name: neurofibromatosis-Noonan syndrome def: "A RASopathy characterized by neurofibromatosis and manifestations of Noonan syndrome including short stature, ptosis, midface hypoplasia, webbed neck, learning disabilities, and muscle weakness that has_material_basis_in heterozygous mutation in NF1 on chromosome 17q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12707950 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2411134 "DO"] synonym: "neurofibromatosis type 1-Noonan syndrome" EXACT [] synonym: "neurofibromatosis with Noonan phenotype" EXACT [] synonym: "NFNS" EXACT [] xref: GARD:372 xref: MESH:C537393 xref: MIM:601321 xref: MONDO:0011035 xref: ORDO:638 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:3490 ! Noonan syndrome is_a: DOID:8712 ! neurofibromatosis [Term] id: DOID:0111684 name: hereditary mixed polyposis syndrome def: "An intestinal disease characterized by a mixture of hyperplastic, atypical juvenile and adenomatous polyps that are associated with an increased risk of developing colorectal cancer when untreated. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8644741 "DO"] synonym: "HMPS" EXACT [] xref: MIM:PS601228 xref: ORDO:157794 is_a: DOID:0050424 ! familial adenomatous polyposis [Term] id: DOID:0111685 name: hereditary mixed polyposis syndrome 1 alt_id: MIM:601228 def: "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous duplication of a region on chromosome 15q15.3-q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22561515 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8644741 "DO"] synonym: "chromosome 15q13-q14 duplication syndrome, 40-KB" EXACT [] synonym: "colorectal adenoma and carcinoma 1" NARROW [] synonym: "colorectal cancer, susceptibility to, 4" NARROW [] synonym: "colorectal cancer, susceptibility to, on chromosome 15" NARROW [] synonym: "CRAC1" EXACT [] synonym: "CRCS4" NARROW [] synonym: "HMPS1" EXACT [] xref: MESH:C563365 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:0111684 ! hereditary mixed polyposis syndrome [Term] id: DOID:0111686 name: hereditary mixed polyposis syndrome 2 alt_id: MIM:610069 def: "A hereditary mixed polyposis syndrome that has_material_basis_in heterozygous mutation in the BMPR1A gene on chromosome 10q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16525031 "DO"] synonym: "HMPS2" EXACT [] xref: MESH:C566451 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111684 ! hereditary mixed polyposis syndrome [Term] id: DOID:0111687 name: Potocki-Shaffer syndrome alt_id: MIM:601224 def: "A syndrome characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina that has_material_basis_in heterozygosity for a contiguous gene deletion on chromosome 11p11.2. (DO)" [https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/20140962 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8644736 "DO"] synonym: "11p11.2 deletion" EXACT [] synonym: "chromosome 11p11.2 deletion syndrome" EXACT [] synonym: "defect11 syndrome" EXACT [] synonym: "deletion of chromosome 11p11.2" EXACT [] synonym: "P11PDS" EXACT [] synonym: "proximal 11P deletion syndrome" EXACT [] synonym: "PSS" EXACT [] xref: GARD:9762 xref: MESH:C538356 xref: NCI:C75456 xref: ORDO:52022 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:206 ! hereditary multiple exostoses [Term] id: DOID:0111688 name: Ayme-Gripp syndrome alt_id: MIM:601088 def: "A syndrome characterized by congenital cataracts, sensorineural hearing loss, intellectual disability, seizures, brachycephaly, a distinctive flat facial appearance, and reduced growth that has_material_basis_in heterozygous mutation in MAF on chromosome 16q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25865493 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8834052 "DO"] synonym: "AYGRP" EXACT [] synonym: "congenital cataracts with sensorineural deafness, Down syndrome-like facial appearance, short stature, and mental retardation" EXACT [] xref: EFO:0009020 xref: MESH:C563390 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:0111689 name: familial adult myoclonic epilepsy def: "An adolescence-adult electroclinical syndrome characterized by adult-onset cortical myoclonus typically first seen as tremulous finger movements and myoclonus of the extremities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20548044 "DO"] synonym: "BAFME" EXACT [] synonym: "benign adult familial myoclonic epilepsy" EXACT [] synonym: "benign adult familial myoclonus epilepsy" EXACT [] synonym: "FAME" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy" EXACT [] synonym: "FCMTE" EXACT [] synonym: "FMCTE" EXACT [] xref: MIM:PS601068 xref: ORDO:86814 is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:0111690 name: familial adult myoclonic epilepsy 1 alt_id: MIM:601068 def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the SAMD12 gene on chromosome 8q24.11-q24.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29507423 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29939203 "DO"] synonym: "BAFME1" EXACT [] synonym: "benign adult familial myoclonic epilepsy 1" EXACT [] synonym: "benign adult familial myoclonic epilepsy, type 1" EXACT [] synonym: "FAME1" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 1" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 1" EXACT [] synonym: "familial cortical tremor" EXACT [] synonym: "FCMTE1" EXACT [] xref: MESH:C563399 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111691 name: familial adult myoclonic epilepsy 5 def: "A familial adult myoclonic epilepsy characterized by onset of seizures in adolescence, followed by the development of cortical myoclonic tremor that has_material_basis_in homozygous or compound heterozygous mutation in the CNTN2 gene on chromosome 1q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23518707 "DO"] synonym: "FAME5" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 5" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 5" EXACT [] synonym: "FCMTE5" EXACT [] xref: MIM:615400 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111692 name: familial adult myoclonic epilepsy 2 alt_id: MIM:607876 def: "A familial adult myoclonic epilepsy characterized by onset of tremor affecting the fingers, hand, and voice in adolescence or young adulthood with somewhat later onset of rhythmic myoclonic jerks and generalized tonic-clonic seizures that has_material_basis_in a heterozygous 5-bp repeat expansion in STARD7 on chromosome 2q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22491192 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24114805 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31664034 "DO"] synonym: "ADCME" EXACT [] synonym: "BAFME2" EXACT [] synonym: "benign adult familial myoclonic epilepsy 2" EXACT [] synonym: "benign adult familial myoclonic epilepsy type 2" EXACT [] synonym: "cortical myoclonus and epilepsy, autosomal dominant" EXACT [] synonym: "FAME2" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 2" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 2" EXACT [] synonym: "FCMTE2" EXACT [] xref: MESH:C564313 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy created_by: rgd creation_date: 2017-10-31T13:41:25Z [Term] id: DOID:0111693 name: familial adult myoclonic epilepsy 4 def: "A familial adult myoclonic epilepsy that has_material_basis_in heterozygous mutation in the YEATS2 gene on chromosome 3q27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31539032 "DO"] synonym: "FAME4" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 4" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 4" EXACT [] synonym: "FCMTE4" EXACT [] xref: MIM:615127 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy created_by: gthayman creation_date: 2019-04-30T14:46:13Z [Term] id: DOID:0111694 name: familial adult myoclonic epilepsy 7 def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the RAPGEF2 gene on chromosome 4q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29507423 "DO"] synonym: "BAFME7" EXACT [] synonym: "BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY 7" EXACT [] synonym: "FAME7" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 7" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 7" EXACT [] synonym: "FCMTE7" EXACT [] xref: MIM:618075 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111695 name: familial adult myoclonic epilepsy 3 alt_id: MIM:613608 def: "A familial adult myoclonic epilepsy characterized by onset between 10 and 40 years of age of cortical tremor, mainly affecting the hands and voice that has_material_basis_in a heterozygous 5-bp repeat expansion in the MARCHF6 gene on chromosome 5p15.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31664039 "DO"] synonym: "FAME3" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 3" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 3" EXACT [] synonym: "FCMTE3" EXACT [] xref: MESH:C567098 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111696 name: familial adult myoclonic epilepsy 6 def: "A familial adult myoclonic epilepsy that has_material_basis_in a heterozygous 5-bp repeat expansion in the TNRC6A gene on chromosome 16p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29507423 "DO"] synonym: "BAFME6" EXACT [] synonym: "benign adult familial myoclonic epilepsy 6" EXACT [] synonym: "FAME6" EXACT [] synonym: "familial cortical myoclonic tremor and epilepsy 6" EXACT [] synonym: "familial cortical myoclonic tremor with epilepsy 6" EXACT [] synonym: "FCMTE6" EXACT [] xref: MIM:618074 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111689 ! familial adult myoclonic epilepsy [Term] id: DOID:0111697 name: cleft palate, cardiac defects, and intellectual disabillity alt_id: MIM:600987 def: "A syndrome characterized by a combination of congenital heart defects, variable cleft lip/palate, short stature, microcephaly, and digital anomalies that has_material_basis_in heterozygous mutation in the MEIS2 gene on chromosome 15q14. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24678003 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8825606 "DO"] synonym: "Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies" EXACT [] synonym: "cleft palate, cardiac defects, and impaired intellectual development" EXACT [] synonym: "cleft palate, cardiac defects, and mental retardation" EXACT [] synonym: "CPCMR" EXACT [] synonym: "MEIS2-related disorder" BROAD [] xref: MESH:C563414 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10907 ! microcephaly is_a: DOID:1682 ! congenital heart disease is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:0111698 name: proprotein convertase 1/3 deficiency def: "A syndrome characterized by severe childhood obesity, hypoadrenalism, hypogonadism, reactive hypoglycaemia, and elevated circulating levels of certain prohormones that has_material_basis_in homozygous or compound heterozygous mutation in the PCSK1 gene on chromosome 5q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14617756 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7477119 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9207799 "DO"] synonym: "obesity and endocrinopathy due to impaired processing of prohormones" EXACT [] synonym: "obesity due to prohormone convertase I deficiency" EXACT [] synonym: "obesity with impaired prohormone processing" EXACT [] synonym: "PCI deficiency" EXACT [] synonym: "PCSK1-RELATED CONDITION" EXACT [] xref: MESH:C563423 xref: MIM:600955 xref: MONDO:0010961 xref: ORDO:71528 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:28 ! endocrine system disease is_a: DOID:9970 ! obesity created_by: mtutaj creation_date: 2019-03-21T11:28:01Z [Term] id: DOID:0111699 name: Van den Ende-Gupta syndrome alt_id: MIM:600920 alt_id: OMIA:002016 def: "A syndrome characterized by severe contractual arachnodactyly, distinctive facial features, blepharophimosis, and absence of neurological involvement that has_material_basis_in homozygous or compound heterozygous mutation in the SCARF2 gene on chromosome 22q11.21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23808541 "DO"] synonym: "blepharophimosis, arachnodactyly, and congenital contractures" EXACT [] synonym: "Marden Walker Like Syndrome" EXACT [] synonym: "Marden-Walker-like syndrome without psychmotor retardation" EXACT [] synonym: "Marden Walker like syndrome without psychomotor retardation" EXACT [] synonym: "VDEGS" EXACT [] xref: GARD:3382 xref: MESH:C535909 xref: ORDO:2460 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10348 ! blepharophimosis is_a: DOID:225 ! syndrome is_a: DOID:9005367 ! Arachnodactyly is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111700 name: ankyrin-B-related cardiac arrhythmia alt_id: MIM:600919 def: "A heart disease characterized by a broad spectrum of cardiac arrhythmias including; bradycardia, sinus arrhythmia, delayed conduction/conduction block, idiopathic ventricular fibrillation, and catecholaminergic polymorphic ventricular tachycardia that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. (DO)" [https://ghr.nlm.nih.gov/condition/ankyrin-b-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15178757 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17242276 "DO"] synonym: "ANK2-ASSOCIATED COMPLEX NEURODEVELOPMENTAL DISORDER" RELATED [] synonym: "ANK2-ASSOCIATED NEURODEVELOPMENTAL DISORDER" RELATED [] synonym: "ANK2-RELATED AUTISM" RELATED [] synonym: "ANK2-RELATED CONDITION" BROAD [] synonym: "Ankyrin-B Syndrome" EXACT [] synonym: "LONG QT SYNDROME 4" RELATED [] synonym: "LQT4" RELATED [] xref: GARD:13294 xref: MESH:C566996 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:0111701 name: long QT syndrome 4 def: "A long QT syndrome that has_material_basis_in heterozygous mutation in the ANK2 gene on chromosome 4q25-q26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7485162 "DO"] synonym: "ANK2-ASSOCIATED COMPLEX NEURODEVELOPMENTAL DISORDER" RELATED [] synonym: "ANK2-ASSOCIATED NEURODEVELOPMENTAL DISORDER" RELATED [] synonym: "ANK2-RELATED AUTISM" RELATED [] synonym: "LQT4" EXACT [] xref: GARD:10432 xref: MESH:C563428 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:0111702 name: loose anagen hair syndrome alt_id: MIM:600628 def: "An alopecia characterized by anagen phase (actively growing) hair that is easily pulled from the scalp typically presenting in childhood in fair haired individuals and improving with age. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1705765 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2915059 "DO"] synonym: "loose anagen syndrome" EXACT [] synonym: "loose anagen syndromes" EXACT [] xref: GARD:3287 xref: MESH:D058247 xref: ORDO:168 is_a: DOID:225 ! syndrome is_a: DOID:987 ! alopecia [Term] id: DOID:0111703 name: familial hypertryptophanemia alt_id: DOID:9009018 def: "An amino acid metabolic disorder characterized by elevated urine and plasma tryptophan levels that has_material_basis_in homozygous or compound heterozygous mutation in the TDO2 gene on chromosome 4q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28285122 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7628119 "DO"] synonym: "Hypertryptophanemia" EXACT [] synonym: "HYPTRP" EXACT [] xref: GARD:2871 xref: MESH:C563467 xref: MIM:600627 xref: MONDO:0010907 xref: ORDO:2224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: slaulede creation_date: 2018-06-18T16:11:15Z [Term] id: DOID:0111704 name: chromosome 2q37 deletion syndrome alt_id: MIM:600430 def: "A chromosomal deletion syndrome characterized by variable features, likely resulting from different sized deletions, including; brachydactyly type E, short stature, mild to moderate intellectual disability, behavioral abnormalities, and dysmorphic facial features that has_material_basis_in heterozygosity for a contiguous deletion of several genes on chromosome 2q37.2. (DO)" [https://ghr.nlm.nih.gov/condition/2q37-deletion-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23188045 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24715439 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25402011 "DO"] synonym: "2q37 deletion syndrome" EXACT [] synonym: "2q37 microdeletion syndrome" EXACT [] synonym: "Albright's hereditary osteodystrophy-like syndrome" EXACT [] synonym: "Albright hereditary osteodystrophy-like syndrome" EXACT [] synonym: "Albright hereditary osteodystrophy type 3" EXACT [] synonym: "BDMR" EXACT [] synonym: "brachydactyly-intellectual disability syndrome" EXACT [] synonym: "Brachydactyly-Mental Retardation syndrome" EXACT [] synonym: "Chromosome 2, monosomy 2q37" EXACT [] synonym: "Del(2)(q37)" EXACT [] synonym: "Deletion 2q37" EXACT [] synonym: "monosomy 2q37" EXACT [] synonym: "monosomy 2q37qter" EXACT [] xref: MESH:C538317 xref: NCI:C129021 xref: ORDO:1001 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:0111705 name: oculoectodermal syndrome alt_id: MIM:600268 def: "An ectodermal dysplasia characterized by epibulbar dermoids and aplasia cutis congenita that has_material_basis_in somatic mosaic mutation in the KRAS gene on chromosome 12p12.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25808193 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26970110 "DO"] synonym: "aplasia cutis congenita-epibulbar dermoids syndrome" EXACT [] synonym: "Aplasia Cutis Congenita with Epibulbar Dermoids" EXACT [] synonym: "oculoectodermal syndrome, somatic" EXACT [] synonym: "OES" EXACT [] synonym: "Toriello-Lacassie-Droste syndrome" EXACT [] xref: GARD:10366 xref: MESH:C563969 xref: ORDO:3339 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2658 ! dermoid cyst created_by: mtutaj creation_date: 2019-03-26T14:28:13Z [Term] id: DOID:0111706 name: oblique facial clefting 1 alt_id: MIM:600251 def: "An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. (DO)" [https://en.wikipedia.org/wiki/Craniofacial_cleft#Tessier_classification "DO", https://www.ncbi.nlm.nih.gov/pubmed/21703590 "DO", https://www.ncbi.nlm.nih.gov/pubmed/820824 "DO"] synonym: "OBLFC1" EXACT [] synonym: "oblique facial clefts" EXACT [] synonym: "Oculomaxillofacial Dysostosis" EXACT [] synonym: "oculomaxillofacial dysplasia with oblique facial clefts" EXACT [] synonym: "Richieri Costa Gorlin syndrome" EXACT [] synonym: "SPECC1L-RELATED CONDITION" BROAD [] synonym: "Tessier number 4 facial cleft" EXACT [] xref: MESH:C537736 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:9004563 ! Maxillofacial Abnormalities is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0111707 name: Bothnian type palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has_material_basis_in heterozygous mutation in the AQP5 gene on chromosome 12q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23830519 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7531539 "DO"] synonym: "Diffuse Palmoplantar Keratoderma, Bothnian Type" EXACT [] synonym: "PPKB" EXACT [] xref: GARD:1862 xref: MESH:C536173 xref: MIM:600231 xref: MONDO:0010849 xref: ORDO:2337 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma [Term] id: DOID:0111708 name: focal nonepidermolytic palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma characterized by localized areas of hyperkeratosis located mainly on pressure points and sites of recurrent friction. (DO)" [https://en.wikipedia.org/wiki/Palmoplantar_keratoderma#Focal "DO", https://www.ncbi.nlm.nih.gov/pubmed/21176769 "DO"] synonym: "early onset tylosis (type B)" EXACT [] synonym: "familial tylosis" EXACT [] synonym: "FNEPPK" EXACT [] synonym: "Focal non epidermolytic palmoplantar keratoderma" EXACT [] synonym: "Focal Palmoplantar Keratoderma" EXACT [] synonym: "hyperkeratosis of the palms and soles and esophageal papillomas" EXACT [] synonym: "isolated focal non-epidermolytic palmoplantar keratoderma" EXACT [] synonym: "late onset tylosis (type A)" EXACT [] xref: MESH:C538682 xref: ORDO:448264 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:2615 ! papilloma [Term] id: DOID:0111709 name: focal nonepidermolytic palmoplantar keratoderma 1 alt_id: OMIA:002088 def: "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT16 gene on chromosome 17q21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8595410 "DO"] synonym: "FNEPPK1" EXACT [] synonym: "PPKFNE" EXACT [] xref: MIM:613000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111708 ! focal nonepidermolytic palmoplantar keratoderma [Term] id: DOID:0111710 name: focal or diffuse nonepidermolytic palmoplantar keratoderma def: "A nonepidermolytic palmoplantar keratoderma characterized by focal or diffuse palmoplantar keratodermas with minor or absent nail changes that has_material_basis_in heterozygous mutation in the KRT6C gene on chromosome 12q13.13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19609311 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21801157 "DO"] synonym: "autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering" EXACT [] synonym: "PPKNEFD" EXACT [] xref: MIM:615735 xref: ORDO:402003 is_a: DOID:0050428 ! nonepidermolytic palmoplantar keratoderma is_a: DOID:0050736 ! autosomal dominant disease [Term] id: DOID:0111711 name: focal nonepidermolytic palmoplantar keratoderma 2 def: "A focal nonepidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25285920 "DO"] synonym: "FNEPPK2" EXACT [] xref: MIM:616400 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111708 ! focal nonepidermolytic palmoplantar keratoderma [Term] id: DOID:0111712 name: Kagami-Ogata syndrome alt_id: MIM:608149 def: "A syndrome characterized by polyhydramnios, fetal macrosomia, abdominal wall defects, skeletal abnormalities, feeding difficulties and impaired swallowing, dysmorphic features, developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10951461 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12938037 "DO"] synonym: "Chromosome 14, Paternal Uniparental Disomy" EXACT [] synonym: "Paternal uniparental disomy 14" EXACT [] xref: MESH:C536471 xref: ORDO:254519 is_a: DOID:225 ! syndrome is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:0111713 name: Temple syndrome def: "A syndrome characterized by low birth weight, hypotonia and motor delay, feeding problems early in life, early puberty, and significantly reduced final height that has_material_basis_in heterozygous mutation in an impriniting region on chromosome 14q32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18454453 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24891339 "DO"] synonym: "maternal uniparental disomy of chromosome 14" EXACT [] xref: MIM:616222 xref: NCI:C120409 xref: ORDO:254516 is_a: DOID:225 ! syndrome is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:0111714 name: Mulchandani-Bhoj-Conlin syndrome def: "A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26248010 "DO"] synonym: "maternal uniparental disomy of chromosome 20" EXACT [] synonym: "maternal UPD(20)" EXACT [] synonym: "MBCS" EXACT [] synonym: "UPD(20)mat" EXACT [] xref: MIM:617352 xref: ORDO:96186 is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:0111715 name: Schaaf-Yang syndrome alt_id: MIM:615547 def: "A syndrome characterized by delayed psychomotor development, impaired intellectual development, hypotonia, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the maternally imprinted gene MAGEL2 on chromosome 15q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27195816 "DO"] synonym: "Chitayat-Hall syndrome" EXACT [] synonym: "distal arthrogryposis with hypopituitarism, mental retardation, and facial anomalies" EXACT [] synonym: "MAGEL2-RELATED CONDITION" EXACT [] synonym: "MAGEL2-related Prader-Willi-like syndrome" EXACT [] synonym: "MAGEL2-related PWLS" EXACT [] synonym: "Prader-Willi-like syndrome" EXACT [] synonym: "PWLS" EXACT [] synonym: "SHFYNG" EXACT [] xref: GARD:13316 xref: MESH:C535385 xref: ORDO:398069 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:1059 ! intellectual disability is_a: DOID:11983 ! Prader-Willi syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:0111716 name: cryptophthalmia def: "A physical disorder characterized by ocular dysplasia with eyelid malformation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30802441 "DO"] synonym: "cryptophthalmos" EXACT [] xref: ICD9CM:743.06 xref: NCI:C124520 xref: ORDO:98562 is_a: DOID:0080015 ! physical disorder is_a: DOID:530 ! eyelid disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:0111717 name: isolated cryptophthalmia alt_id: MIM:123570 def: "A cryptophthalmia characterized by absence of the eyelids with skin covering the eye and often an underlying malformed eye. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16352480 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29688405 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31366340 "DO"] synonym: "CRYPTOP" EXACT [] synonym: "Cryptophthalmos with Microphthalmia and Peters Anomaly" EXACT [] synonym: "FREM2-RELATED CONDITION" BROAD [] synonym: "isolated unilateral or bilateral cryptophthalmos" EXACT [] synonym: "simple ankyloblepharon" EXACT [] xref: MESH:C565138 xref: ORDO:91396 is_a: DOID:0111716 ! cryptophthalmia [Term] id: DOID:0111718 name: partial cryptophthalmia def: "An isolated cryptophthalmia characterized by an ill-defined upper eyelid that is completely fused, often over an abnormally developed globe and a keratinized cornea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31366340 "DO"] synonym: "incomplete cryptophthalmos" EXACT [] xref: ORDO:98950 is_a: DOID:0111717 ! isolated cryptophthalmia [Term] id: DOID:0111719 name: complete cryptophthalmia def: "An isolated cryptophthalmia characterized by failure of formation of the lid folds and globe results in skin extending from the brow to the cheek without identifiable adnexal structures and often the presence of a vestigial ocular structure or cyst within the socket. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31366340 "DO"] xref: ORDO:98949 is_a: DOID:0111717 ! isolated cryptophthalmia [Term] id: DOID:0111720 name: congenital symblepharon def: "An isolated cryptophthalmia characterized by fusion of the upper eyelid skin to the superior aspect of the globe often associated with microphthalmia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16352480 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31366340 "DO"] xref: ORDO:98948 is_a: DOID:0111717 ! isolated cryptophthalmia [Term] id: DOID:0111721 name: amelogenesis imperfecta type 3 def: "An amelogenesis imperfecta characterized by soft enamel that is initially of normal thickness but lost soon after tooth eruption. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30506946 "DO"] synonym: "AI3" EXACT [] synonym: "amelogenesis imperfecta type III" EXACT [] synonym: "hypocalcified amelogenesis imperfecta" EXACT [] xref: ORDO:100032 is_a: DOID:2187 ! amelogenesis imperfecta created_by: slaulede creation_date: 2020-01-10T14:12:33Z [Term] id: DOID:0111722 name: amelogenesis imperfecta type 3C def: "An amelogenesis imperfecta type 3 that is characterized by hypocalcified enamel in both the primary and secondary dentition and that has_material_basis_in homozygous mutation in the RELT gene on chromosome 11q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30506946 "DO"] synonym: "AI3C" EXACT [] synonym: "amelogenesis imperfecta, hypocalcification type, autosomal recessive" EXACT [] synonym: "amelogenesis imperfecta type IIIC" EXACT [] xref: MIM:618386 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111721 ! amelogenesis imperfecta type 3 created_by: rgd creation_date: 2016-10-18T00:00:00Z [Term] id: DOID:0111723 name: Jacobsen Syndrome alt_id: MIM:147791 def: "A chromosomal deletion syndrome that is characterized by growth retardation, psychomotor retardation, distinctive facial features, skeletal abnormalities, and isoimmune thrombocytopenia that has_material_basis_in deletion of terminal chromosome 11q. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4134631 "DO"] synonym: "11q23 deletion disorder" EXACT [] synonym: "11q deletion disorder" EXACT [] synonym: "11q deletion syndrome" EXACT [] synonym: "11q terminal deletion disorder" EXACT [] synonym: "Chromosome 11q Deletion Syndrome" EXACT [] synonym: "Jacobsen Distal 11q Deletion Syndrome" EXACT [] synonym: "Jacobsen thrombocytopenia" EXACT [] synonym: "JBS" EXACT [] synonym: "Paris Trousseau syndrome" EXACT [] synonym: "Paris Trousseau thrombocytopenia" EXACT [] synonym: "partial 11q monosomy syndrome" EXACT [] xref: GARD:307 xref: MESH:D054868 xref: NCI:C75457 xref: ORDO:2308 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:0111724 name: geleophysic dysplasia def: "A bone development disease characterized by short-limb dwarfism, brachydactyly, cardiac valvular disease, characteristic facial appearance, skin thickening, and laryngotracheal stenosis. (DO)" [https://ghr.nlm.nih.gov/condition/geleophysic-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301776 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31516831 "DO"] synonym: "geleophysic dysplasias" EXACT [] synonym: "GPHYSD" EXACT [] xref: GARD:2449 xref: MIM:PS231050 xref: ORDO:2623 is_a: DOID:0111243 ! acromicric dysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9003936 ! Cardiomegaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111725 name: geleophysic dysplasia 1 alt_id: OMIA:001509 def: "A geleophysic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the ADAMTSL2 gene on chromosome 9q34.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21683322 "DO"] synonym: "ADAMTSL2-RELATED CONDITION" EXACT [] synonym: "GPHYSD1" EXACT [] synonym: "Musladin-Lueke syndrome" EXACT [] xref: MIM:231050 xref: NCI:C202607 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111724 ! geleophysic dysplasia [Term] id: DOID:0111726 name: geleophysic dysplasia 2 def: "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21683322 "DO"] synonym: "GPHYSD2" EXACT [] xref: MIM:614185 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111724 ! geleophysic dysplasia [Term] id: DOID:0111727 name: geleophysic dysplasia 3 def: "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in the LTBP3 gene on chromosome 11q13.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27068007 "DO"] synonym: "GPHYSD3" EXACT [] xref: MIM:617809 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111724 ! geleophysic dysplasia [Term] id: DOID:0111728 name: familial episodic pain syndrome def: "A peripheral neuropathy characterized by recurrent, stereotyped, episodic intense pain, occurring predominantly in either the upper body or lower limbs, which is triggered or exacerbated by fatigue, cold exposure, fasting, weather changes and/or physical stress or exertion. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24813307 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28298626 "DO"] synonym: "FEPS" EXACT [] xref: GARD:12684 xref: MIM:PS615040 xref: ORDO:391384 is_a: DOID:870 ! neuropathy is_a: DOID:9000641 ! Pain [Term] id: DOID:0111729 name: familial episodic pain syndrome 1 def: "A familial episodic pain syndrome characterized by onset in infancy of episodic debilitating upper body pain triggered by fasting, cold, and physical stress that has_material_basis_in heterozygous mutation in the TRPA1 gene on chromosome 8q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20547126 "DO"] synonym: "FEPS1" EXACT [] xref: MIM:615040 xref: ORDO:391389 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111728 ! familial episodic pain syndrome [Term] id: DOID:0111730 name: familial episodic pain syndrome 2 def: "A familial episodic pain syndrome characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities that has_material_basis_in heterozygous mutation in the SCN10A gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23115331 "DO"] synonym: "FEPS2" EXACT [] xref: MIM:615551 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111728 ! familial episodic pain syndrome [Term] id: DOID:0111731 name: familial episodic pain syndrome 3 def: "A familial episodic pain syndrome characterized by early childhood onset of intense episodic pain mainly affecting the distal lower extremities, but sometimes also the upper extremities, with pain cycles lasting several days and exacerbated by fatigue that has_material_basis_in heterozygous mutation in the SCN11A gene on chromosome 3p22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24207120 "DO"] synonym: "FEPS3" EXACT [] xref: MIM:615552 xref: NCI:C125390 xref: ORDO:391392 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111728 ! familial episodic pain syndrome [Term] id: DOID:0111732 name: Eiken syndrome alt_id: MIM:600002 def: "A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6734674 "DO"] synonym: "bone modeling defect of hands and feet" EXACT [] synonym: "Eiken skeletal dysplasia" EXACT [] xref: MESH:C564010 xref: ORDO:79106 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111733 name: HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES alt_id: DOID:9004418 alt_id: MESH:C536714 alt_id: MIM:600001 def: "A syndrome characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies that has_material_basis_in heterozygous mutation in GATA6 on chromosome 18q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22158542 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8071961 "DO"] synonym: "Congenital Heart Defects, and Other Congenital Anomalies" EXACT [] synonym: "congenital pancreatic hypoplasia with diabetes mellitus and congenital heart disease" EXACT [] synonym: "GATA6-RELATED CONGENITAL HEART DISEASE WITH OR WITHOUT PANCREATIC AGENESIS OR NEONATAL DIABETES" EXACT [] synonym: "HDCA" EXACT [] synonym: "PACHD" EXACT [] synonym: "pancreatic agenesis and congenital heart defects" EXACT [] synonym: "pancreatic hypoplasia-diabetes-congenital heart disease syndrome" EXACT [] synonym: "pancreatic hypoplasia-diabetes-heart disease" EXACT [] synonym: "Yorifuji-Okuno syndrome" EXACT [] xref: MESH:C564011 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050877 ! pancreatic agenesis is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9351 ! diabetes mellitus created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:0111734 name: aminoglycoside-induced deafness alt_id: MIM:580000 def: "A drug-induced hearing loss characterized by hearing loss induced by therapeutic doses of aminoglycoside antibiotics that has_material_basis_in mutation in the mitochondrial genes MTRNR1 or MTCO1 in combination with homozygous mutation in TRMU on chromosome 22q13.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16152638 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7689389 "DO"] synonym: "Deafness, mitochondrial, modifier of" RELATED [] synonym: "streptomycin-induced deafness" EXACT [] synonym: "streptomycin ototoxicity" EXACT [] synonym: "TRMU-RELATED CONDITION" BROAD [] xref: MESH:C564013 is_a: DOID:0070310 ! drug-induced hearing loss is_a: DOID:10003 ! sensorineural hearing loss created_by: rgd creation_date: 2018-01-17T18:02:10Z [Term] id: DOID:0111735 name: X-linked deafness 4 alt_id: MIM:300066 def: "An X-linked nonsyndromic deafness characterized by progressive hearing loss with postlingual onset and earlier onset in males compared to females that has_material_basis_in mutation in the SMPX gene on chromosome Xp22.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8872482 "DO"] synonym: "Deafness, Nonsyndromic Sensorineural Progressive 6" EXACT [] synonym: "DFN6" EXACT [] synonym: "DFNX4" EXACT [] synonym: "progressive X-linked deafness 6" EXACT [] xref: MESH:C564723 xref: NCI:C180844 is_a: DOID:0050566 ! X-linked nonsyndromic deafness created_by: mtutaj creation_date: 2019-06-25T13:28:26Z [Term] id: DOID:0111736 name: X-linked deafness 3 alt_id: MIM:300030 def: "An X-linked nonsyndromic deafness characterized by congenital, bilateral, profound and sensorineural hearing loss in males and bilateral, mild to moderate high frequency sensorineural hearing impairment with later onset in heterozygous females that has_material_basis_in mutation in a region on chromosome Xp21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18005182 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7942846 "DO"] synonym: "DFN4" EXACT [] synonym: "DFNX3" EXACT [] synonym: "X-linked deafness 4, congenital sensorineural" EXACT [] xref: MESH:C564727 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111737 name: X-linked deafness 2 alt_id: DOID:0080783 alt_id: MIM:304400 def: "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20412083 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7839145 "DO"] synonym: "Deafness 3, conductive, with stapes fixation" EXACT [] synonym: "Deafness, Conductive, with Stapes Fixation" EXACT [] synonym: "DFN3" EXACT [] synonym: "DFNX2" EXACT [] synonym: "mixed deafness with perilymphatic gusher" EXACT [] synonym: "Nance deafness" EXACT [] synonym: "perilymphatic gusher-deafness syndrome" EXACT [] synonym: "profound sensorineural deafness with or without a conductive component" EXACT [] synonym: "profound sensorineural deafness with or without a conductive component, associated with a unique developmental abnormality of the ear" EXACT [] synonym: "progressive hearing loss stapes fixation" EXACT [] synonym: "X-linked deafness type 2" EXACT [] synonym: "X-linked mixed conductive and neurosensory deafness" EXACT [] synonym: "X-linked mixed conductive and neurosensory hearing loss" EXACT [] synonym: "X-linked mixed conductive and sensorineural deafness" EXACT [] synonym: "X-linked mixed conductive and sensorineural hearing loss" EXACT [] synonym: "X-linked sensorineural deafness" EXACT [] synonym: "X-linked stapes gusher syndrome" EXACT [] xref: MESH:C536424 xref: ORDO:383 is_a: DOID:0050566 ! X-linked nonsyndromic deafness is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:0111738 name: X-linked deafness 7 def: "An X-linked nonsyndromic deafness characterized by congenital, bilateral, mixed or conductive hearing loss and other ear anomalies that has_material_basis_in homozygous or hemizygous mutation in the GPRASP2 gene on chromosome Xq22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28096187 "DO"] synonym: "DFNX7" EXACT [] synonym: "X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome" EXACT [] xref: MIM:301018 xref: MONDO:0044702 xref: ORDO:500188 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111739 name: X-linked deafness 1 alt_id: MIM:304500 def: "An X-linked nonsyndromic deafness characterized by congenital profound sensorineural hearing loss in males and mild to moderate high-frequency hearing loss in heterozygous females that has_material_basis_in mutation in the PRPS1 gene on chromosome Xq22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20021999 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8968763 "DO"] synonym: "DFN2" EXACT [] synonym: "DFNX1" EXACT [] synonym: "X-linked deafness 2, sensorineural congenital" EXACT [] xref: MESH:C564433 is_a: DOID:0050566 ! X-linked nonsyndromic deafness [Term] id: DOID:0111740 name: X-linked deafness 6 def: "An X-linked nonsyndromic deafness characterized by severe bilateral sensorineural hearing loss with cochlear malformation in males and mild to moderate hearing loss in females with later onset that has_material_basis_in mutation in the COL4A6 gene on chromosome Xq22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23714752 "DO"] synonym: "COL4A6-RELATED CONDITION" EXACT [] synonym: "DFNX6" EXACT [] xref: MIM:300914 is_a: DOID:0050566 ! X-linked nonsyndromic deafness created_by: slaulede creation_date: 2018-09-11T14:51:18Z [Term] id: DOID:0111741 name: X-linked deafness 5 alt_id: MIM:300614 def: "A neuropathy characterized by childhood onset of auditory neuropathy and later onset of distal sensory impairment due to diffuse peripheral neuropathy that has_material_basis_in hemizygous or homozygous mutation in the AIFM1 gene on chromosome Xq26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16816020 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25986071 "DO"] synonym: "AUNX1" EXACT [] synonym: "DFNX5" EXACT [] synonym: "X-linked auditory neuropathy 1 with peripheral sensory neuropathy" EXACT [] synonym: "X-linked auditory neuropathy with peripheral sensory neuropathy type 1" EXACT [] synonym: "X-linked deafness 5 with peripheral neuropathy" EXACT [] synonym: "X-linked HSAN with deafness" EXACT [] xref: MESH:C564472 xref: NCI:C180843 xref: ORDO:139583 is_a: DOID:0050566 ! X-linked nonsyndromic deafness is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:9001890 ! Auditory Neuropathy [Term] id: DOID:0111742 name: cerebellar ataxia type 42 def: "An autosomal dominant cerebellar ataxia characterized by gait instability, dysarthria, nystagmus, and saccadic pursuits with variable age of onset and severity and slow progression that has_material_basis_in heterozygous mutation of the CACNA1G gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26456284 "DO"] synonym: "CACNA1G-RELATED CONDITION" BROAD [] synonym: "CACNA1G-RELATED DISORDERS" EXACT [] synonym: "SCA42" EXACT [] synonym: "spinocerebellar ataxia 42" EXACT [] synonym: "SPINOCEREBELLAR ATAXIA TYPE 42" EXACT [] xref: EFO:0009059 xref: MIM:616795 xref: NCI:C171269 xref: ORDO:458803 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0111743 name: cerebellar ataxia type 47 def: "An autosomal dominant cerebellar ataxia characterized by adult onset of slowly progressive cerebellar ataxia or in some cases earlier onset of ataxia accompanied by delayed motor development and short stature that has_material_basis_in heterozygous mutation in the PUM1 gene on chromosome 1p35.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29474920 "DO"] synonym: "PUM1-RELATED CONDITION" BROAD [] synonym: "SCA47" EXACT [] synonym: "spinocerebellar ataxia 47" EXACT [] synonym: "SPINOCEREBELLAR ATAXIA 47, EARLY-ONSET" NARROW [] synonym: "spinocerebellar ataxia type 47" EXACT [] xref: MIM:617931 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111744 name: cerebellar ataxia type 41 def: "An autosomal dominant cerebellar ataxia that has_material_basis_in heterozygous mutation in the TRPC3 gene on chromosome 4q27. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25477146 "DO"] synonym: "SCA41" EXACT [] synonym: "spinocerebellar ataxia 41" EXACT [] synonym: "SPINOCEREBELLAR ATAXIA TYPE 41" EXACT [] xref: EFO:0009058 xref: MIM:616410 xref: ORDO:458798 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111745 name: cerebellar ataxia type 43 def: "An autosomal dominant cerebellar ataxia characterized by adult-onset, slowly progressive, gait and limb ataxia, often associated with peripheral neuropathy typically affecting the motor system that has_material_basis_in heterozygous mutation in MME on chromosome 3q25.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27583304 "DO"] synonym: "MME-RELATED CONDITION" BROAD [] synonym: "SCA43" EXACT [] synonym: "spinocerebellar ataxia 43" EXACT [] xref: EFO:0009060 xref: MIM:617018 xref: MONDO:0014867 xref: ORDO:497764 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111746 name: cerebellar ataxia type 48 def: "An autosomal dominant cerebellar ataxia characterized by mid-adult onset of gait ataxia and/or cognitive-affective symptoms that has_material_basis_in heterozygous mutation in the STUB1 gene on chromosome 16p13.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30381368 "DO"] synonym: "SCA48" EXACT [] synonym: "spinocerebellar ataxia 48" EXACT [] xref: EFO:0010251 xref: MIM:618093 xref: MONDO:0032526 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia creation_date: 2011-07-12T00:00:00Z [Term] id: DOID:0111747 name: cerebellar ataxia type 9 def: "An autosomal dominant cerebellar ataxia characterized by adult onset of ataxia and imbalance and demyelinating lesions on brain MRI. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31632837 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9159738 "DO"] synonym: "SCA9" EXACT [] synonym: "SPINOCEREBELLAR ATAXIA 9" EXACT [] xref: GARD:10481 xref: MIM:612876 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:0111748 name: mitochondrial complex V (ATP synthase) deficiency mitochondrial type 1 def: "A mitochondrial complex V (ATP synthase) deficiency characterized by lactic acidemia, hypotonia, and neurodegenerative disease that has_material_basis_in mutation in mitochondrial gene MTATP6. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1550128 "DO"] synonym: "MC5DM1" EXACT [] xref: MIM:500015 xref: NCI:C186788 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0111749 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 6 def: "A mitochondrial complex V (ATP synthase) deficiency characterized by episodic regression of gross motor skills beginning in early childhood that has_material_basis_in homozygous or compound heterozygous mutation in the ATP5MD gene on chromosome 10q24.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29917077 "DO"] synonym: "MC5DN6" EXACT [] synonym: "mitochondrial complex V deficiency, nuclear type 6" EXACT [] xref: EFO:0010656 xref: MIM:618683 is_a: DOID:0111143 ! mitochondrial complex V (ATP synthase) deficiency [Term] id: DOID:0111750 name: adult-onset ataxia and polyneuropathy alt_id: MIM:500010 def: "A mitochondrial metabolism disease characterized by adult-onset of ataxia and polyneuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16049925 "DO"] xref: MESH:C564020 is_a: DOID:1389 ! polyneuropathy is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9004866 ! Ataxia created_by: mtutaj creation_date: 2019-03-26T08:31:01Z [Term] id: DOID:0111751 name: mitochondrial nonsyndromic sensorineural deafness def: "A sensorineural hearing loss that has_material_basis_in mutation in one of several different mitochondrial genes including; MTRNR1, MTTS1, MTCO1, MTTH, MTND1, and MTTI. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10577941 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16650816 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17341440 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7689389 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8019558 "DO"] synonym: "mitochondrially inherited nonsyndromic sensorineural deafness" EXACT [] xref: MIM:500008 xref: NCI:C148321 is_a: DOID:9007966 ! Nonsyndromic Sensorineural Hearing Loss [Term] id: DOID:0111752 name: autosomal-mitochondrial sensorineural deafness alt_id: MIM:221745 def: "A sensorineural hearing loss characterized by progressive, severe to profound deafness that has_material_basis_in digenic inheritance of mutations in the mitochondrial gene MTRNR1 and an unidentified nuclear gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1613771 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8817331 "DO"] synonym: "Sensorineural Deafness, Autosomal-Mitochondrial Type" EXACT [] xref: MESH:C565637 is_a: DOID:0080578 ! digenic disease is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:0111753 name: infantile hypertrophic cardiomyopathy def: "A hypertrophic cardiomyopathy characterized by isolated hypertrophic cardiomyopathy and congestive heart failure that has_material_basis_in mutation in the overlapping mitochondrial genes MTATP6 and MTATP8. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19188198 "DO"] xref: MIM:500006 is_a: DOID:11984 ! hypertrophic cardiomyopathy [Term] id: DOID:0111754 name: Leber plus disease def: "A syndrome characterized by Leber's hereditary optic neuropathy in combination with other serious systemic or neurological abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27696015 "DO"] synonym: "LHON plus disease" EXACT [] xref: ORDO:99718 is_a: DOID:225 ! syndrome is_a: DOID:705 ! Leber hereditary optic neuropathy [Term] id: DOID:0111755 name: Leber hereditary optic neuropathy and dystonia alt_id: MIM:500001 def: "A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has_material_basis_in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17562939 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19458970 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3711913 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3736869 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8644732 "DO"] synonym: "familial dystonia with visual failure and striatal lucencies" EXACT [] synonym: "LDYT" EXACT [] synonym: "Leber Hereditary Optic Neuropathy With Dystonia" EXACT [] synonym: "Leber optic atrophy with dystonia" EXACT [] synonym: "Marsden Syndrome" EXACT [] xref: MESH:C536024 is_a: DOID:0111754 ! Leber plus disease is_a: DOID:543 ! dystonia [Term] id: DOID:0111756 name: Leber hereditary optic neuropathy with demyelinating disease of CNS def: "A Leber plus disease characterized by Leber hereditary optic neuropathy and demyelination in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14213470 "DO"] synonym: "optic atrophy with demyelinating disease of CNS" EXACT [] xref: MIM:165200 is_a: DOID:0111754 ! Leber plus disease is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:0111757 name: Y-linked deafness def: "A nonsyndromic deafness characterized by a Y-lnked inheritance mode. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23352258 "DO"] synonym: "DFNY" EXACT [] xref: MIM:PS400043 is_a: DOID:0050563 ! nonsyndromic deafness is_a: DOID:0050738 ! Y-linked monogenic disease created_by: rgd creation_date: 2017-03-01T00:00:00Z [Term] id: DOID:0111758 name: Y-linked deafness 2 def: "A Y-linked deafness characterized by male-limited bilateral progressive sensorineural hearing loss of variable severity, with onset in the third to fifth decades of life that has_material_basis_in mutation in the TBL1Y gene on chromosome Yp11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30341416 "DO"] synonym: "DFNY2" EXACT [] xref: MIM:400047 is_a: DOID:0111757 ! Y-linked deafness [Term] id: DOID:0111759 name: Y-linked deafness 1 def: "A Y-linked deafness characterized by male-limited postlingual progressive sensorineural hearing loss of variable severity, with onset in the first to third decades of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18720061 "DO"] synonym: "DFNY1" EXACT [] xref: MIM:400043 is_a: DOID:0111757 ! Y-linked deafness [Term] id: DOID:0111760 name: 46,XX sex reversal alt_id: OMIA:000901 def: "A gonadal dysgenesis characterized by presentation of an XX karyotype and male external genitalia ranging from normal to ambiguous. (DO)" [https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301589 "DO"] synonym: "46, XX gonadal sex reversal" EXACT [] synonym: "46, XX Testicular Disorder of Sex Development" EXACT [] synonym: "46, XX Testicular Disorders of Sex Development" EXACT [] synonym: "46, XX Testicular DSD" EXACT [] synonym: "De la Chapelle syndrome" EXACT [] synonym: "SRXX" EXACT [] synonym: "XX Male Syndrome" EXACT [] synonym: "XX Male Syndromes" EXACT [] synonym: "XX Sex Reversal" EXACT [] synonym: "XX Sex Reversals" EXACT [] synonym: "XXSR" EXACT [] synonym: "XX testicular DSD" EXACT [] synonym: "XX testicular DSD (disorder of sexual development)" EXACT [] xref: GARD:399 xref: MESH:D058531 xref: ORDO:393 is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:9005851 ! 46, XX Disorders of Sex Development created_by: rgd creation_date: 2015-11-11T00:00:00Z [Term] id: DOID:0111761 name: 46,XX sex reversal 1 def: "A 46,XX sex reversal that has_material_basis_in translocation of SRY onto the X chromosome. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15378545 "DO"] synonym: "46,XX GONADAL DYSGENESIS, COMPLETE, SRY-POSITIVE" EXACT [] synonym: "46,XX SEX REVERSAL, SRY-POSITIVE" EXACT [] synonym: "46,XX TRUE HERMAPHRODITISM, SRY-POSITIVE" RELATED [] synonym: "OVOTESTICULAR DISORDER OF SEX DEVELOPMENT" RELATED [] synonym: "OVOTESTICULAR DSD" RELATED [] synonym: "SRXX1" EXACT [] synonym: "SRY-positive XX male" EXACT [] xref: MIM:400045 xref: NCI:C179867 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111760 ! 46,XX sex reversal is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0111762 name: 46,XX sex reversal 3 def: "A 46,XX sex reversal that has_material_basis_in genomic duplications or deletions in the SOX3 regulatory region on chromosome Xq26. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21183788 "DO"] synonym: "46,XX SEX REVERSAL, SOX3-CHROMOSOME Xq26 DELETION SYNDROME" NARROW [] synonym: "CHROMOSOME Xq26 DUPLICATION SYNDROME" EXACT [] synonym: "SRXX3" EXACT [] xref: MIM:300833 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111760 ! 46,XX sex reversal is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:0111763 name: 46,XX sex reversal 2 def: "A 46,XX sex reversal that has_material_basis_in heterozygous duplication or triplication of a 68-kb regulatory region -584 to -516 kb upstream of the SOX9 gene on chromosome 17q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21208124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8262517 "DO"] synonym: "chromosome 17q24 dupication syndrome" EXACT [] synonym: "chromosome 17q24 duplication syndrome" EXACT [] synonym: "SRXX2" EXACT [] xref: MIM:278850 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111760 ! 46,XX sex reversal is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: mtutaj creation_date: 2019-03-21T14:46:37Z [Term] id: DOID:0111764 name: 46,XX sex reversal 4 def: "A 46,XX sex reversal that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27378692 "DO"] synonym: "SRXX4" EXACT [] xref: MIM:617480 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111760 ! 46,XX sex reversal [Term] id: DOID:0111765 name: X-linked cardiac valvular dysplasia def: "A heart valve disease characterized by multivalvular dysplasia and regurgitation with more severe phenotypes in hemizygous males compared to heterozygous females that has_material_basis_in mutation in the FLNA gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-cardiac-valvular-dysplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/17190868 "DO"] synonym: "congenital valvular heart disease" EXACT [] synonym: "CVD1" EXACT [] synonym: "CVDPX" EXACT [] synonym: "Dystrophie valvulaire associee a FLNA" EXACT [] synonym: "EDS 5" EXACT [] synonym: "EDS5" EXACT [] synonym: "Ehlers-Danlos syndrome type 5" EXACT [] synonym: "Ehlers-Danlos syndrome, type V" EXACT [] synonym: "filamin A-related X-linked myxomatous valvular dysplasia" EXACT [] synonym: "FLNA-related valvular dystrophy" EXACT [] synonym: "FLNA-related X-linked myxomatous valvular dysplasia" EXACT [] synonym: "X-linked myxomatous valvular dystrophy" EXACT [] synonym: "XMVD" EXACT [] xref: MESH:C535576 xref: MESH:C536197 xref: MIM:314400 xref: MONDO:0010753 xref: NCI:C141423 xref: NCI:C173469 xref: ORDO:555877 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:1682 ! congenital heart disease is_a: DOID:9003253 ! Myxoma is_a: DOID:988 ! mitral valve prolapse [Term] id: DOID:0111766 name: X-linked VACTERL association alt_id: MIM:276950 alt_id: MIM:314390 def: "A VACTERL association that has_material_basis_in mutation in the ZIC3 gene on chromosome Xq26.3 or the FANCB gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15502827 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20452998 "DO"] synonym: "VACTERL/VATER Association with Hydrocephalus" EXACT [] synonym: "VACTERL association with hydrocephaly" EXACT [] synonym: "VACTERL association with hydrocephaly, X-linked" EXACT [] synonym: "VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS" EXACT [] synonym: "VACTERL-H" EXACT [] synonym: "VACTERL-H VATER ASSOCIATION WITH HYDROCEPHALUS" NARROW [] synonym: "VACTERL-H, X-Linked" EXACT [] synonym: "VACTERL hydrocephaly" EXACT [] synonym: "VACTERLX" EXACT [] synonym: "VATER/VACTERL association with CNS malformations" RELATED [] synonym: "VATER Association with Hydrocephalus" EXACT [] synonym: "VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY" NARROW [] synonym: "X-linked VACTERL association with hydrocephalus" EXACT [] synonym: "X-linked VACTERL-H syndrome" EXACT [] xref: GARD:8498 xref: MESH:C564751 xref: MESH:C564752 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10908 ! hydrocephalus is_a: DOID:14679 ! VACTERL association is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:0111767 name: X-linked thrombocytopenia with beta-thalassemia alt_id: MIM:314050 def: "A hematopoietic system disease characterized by variable thrombocytopenia, hemolytic anemia, splenomegaly, and abnormalities in hemoglobin chain synthesis resulting in imbalance between the alpha and beta chains that has_material_basis_in homozygous or hemizygous missense mutation in the DNA binding domain of the GATA1 gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18930124 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22102271 "DO"] synonym: "beta-thalassemia-X-linked thrombocytopenia syndrome" EXACT [] synonym: "Thrombocytopenia, Platelet Dysfunction, Hemolysis, and Imbalanced Globin Synthesis" EXACT [] synonym: "XLTT" EXACT [] xref: MESH:C564050 xref: NCI:C134941 xref: ORDO:231393 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12241 ! beta thalassemia is_a: DOID:1588 ! thrombocytopenia is_a: DOID:9003603 ! Hemolysis created_by: mtutaj creation_date: 2019-03-26T14:00:27Z [Term] id: DOID:0111768 name: X-linked properdin deficiency alt_id: MESH:C564075 alt_id: MESH:C564076 alt_id: MIM:312060 def: "A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8530058 "DO"] synonym: "CFPD" EXACT [] synonym: "CFP-RELATED CONDITION" EXACT [] synonym: "complement factor properdin deficiency" EXACT [] synonym: "PFD" EXACT [] synonym: "properdin deficiency, type 1" EXACT [] synonym: "Properdin Deficiency, Type I" EXACT [] synonym: "Properdin Deficiency, Type II" RELATED [] synonym: "properdin deficiency, type III" RELATED [] synonym: "properdin P factor deficiency" EXACT [] xref: GARD:9913 xref: MESH:C537241 xref: ORDO:2966 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:626 ! complement deficiency [Term] id: DOID:0111769 name: 46,XY sex reversal 6 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the MAP3K1 gene on chromosome 5q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21129722 "DO"] synonym: "46,XY GONADAL DYSGENESIS, PARTIAL OR COMPLETE, MAP3K1-RELATED" EXACT [] synonym: "46,XY SEX REVERSAL, PARTIAL OR COMPLETE, MAP3K1-RELATED" EXACT [] synonym: "46,XY sex reversal, type 6" EXACT [] synonym: "SRXY6" EXACT [] xref: MIM:613762 xref: MONDO:0013410 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14448 ! 46,XY sex reversal created_by: mtutaj creation_date: 2019-03-26T12:51:49Z [Term] id: DOID:0111770 name: 46,XY sex reversal 9 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the ZFPM2 gene on chromosome 8q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24549039 "DO"] synonym: "46,XY sex reversal, ZFPM2-related" EXACT [] synonym: "SRXY9" EXACT [] xref: MIM:616067 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14448 ! 46,XY sex reversal created_by: mtutaj creation_date: 2019-11-20T11:07:05Z [Term] id: DOID:0111771 name: 46,XY sex reversal 4 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation but with the absence of other features of the chromosome 9p deletion syndrome that has_material_basis_in heterozygous deletion of a region on chromosome 9p. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10780781 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19417767 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO"] synonym: "chromosome 9p24.3 deletion syndrome" EXACT [] synonym: "complete or partial 46,XY gonadal dysgenesis with 9p24.3 deletion" EXACT [] synonym: "SRXY4" EXACT [] xref: MESH:C567887 xref: MIM:154230 xref: MONDO:0007938 xref: NCI:C132270 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111772 name: 46,XY sex reversal 3 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous mutation in the NR5A1 gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10369247 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO"] synonym: "46,XY Gonadal Dysgenesis, Complete or Partial, With or Without Adrenal Failure" EXACT [] synonym: "46,XY Sex Reversal, Partial or Complete, NR5A1-Related" EXACT [] synonym: "DISORDER OF SEX DEVELOPMENT, 46,XY, NR5A1-RELATED" EXACT [] synonym: "SRXY3" EXACT [] synonym: "XY sex reversal, with or without adrenal failure" EXACT [] xref: MIM:612965 xref: MONDO:0013066 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111773 name: 46,XY sex reversal 8 alt_id: MIM:614279 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the AKR1C2 gene on chromosome 10p15.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21802064 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4352099 "DO"] synonym: "male pseudohermaphroditism due to deficiency of testicular 17,20-desmolase" EXACT [] synonym: "SRXY8" EXACT [] synonym: "TDD" EXACT [] xref: MESH:C564109 xref: ORDO:443087 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111774 name: 46,XY sex reversal 7 alt_id: MIM:233420 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in DHH on chromosome 12q13.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15356051 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO"] synonym: "DHH-related 46,XY gonadal dysgenesis, complete" EXACT [] synonym: "DHH-related 46,XY gonadal dysgenesis, complete or partial" EXACT [] synonym: "DHH-related 46,XY sex reversal, partial or complete" EXACT [] synonym: "GDXYM" EXACT [] synonym: "SRXY7" EXACT [] synonym: "XY gonadal dysgenesis, male limited" EXACT [] xref: MESH:C565537 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14448 ! 46,XY sex reversal created_by: mtutaj creation_date: 2019-03-21T10:59:23Z [Term] id: DOID:0111775 name: 46,XY sex reversal 10 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in heterozygous deletion of a region upstream of the SOX9 gene on chromosome 17q24. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22051515 "DO"] synonym: "chromosome 17q24 deletion syndrome" EXACT [] synonym: "SRXY10" EXACT [] xref: MIM:616425 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111776 name: 46,XY sex reversal 5 alt_id: MIM:613080 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in homozygous or compound heterozygous mutation in the CBX2 gene on chromosome 17q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19361780 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO"] synonym: "46,Xy Gonadal Dysgenesis, Complete, Cbx2-Related" EXACT [] synonym: "46,XY SEX REVERSAL, CBX2-RELATED" EXACT [] synonym: "Disorder Of Sex Development, 46,Xy, Cbx2-Related" EXACT [] synonym: "SRXY5" EXACT [] synonym: "XY sex reversal, CBX2-related" EXACT [] xref: MESH:C567766 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111777 name: 46,XY sex reversal 2 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous duplication of the NR0B1 gene on chromosome Xp21.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/567843 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7951319 "DO"] synonym: "46XY sex reversal 2, dosage-sensitive" EXACT [] synonym: "46,XY sex reversal, DAX1-related" EXACT [] synonym: "dosage-sensitive sex reversal" EXACT [] synonym: "DSS" EXACT [] synonym: "SRXY2" EXACT [] xref: GARD:9159 xref: MESH:C535601 xref: MIM:300018 xref: MONDO:0010226 xref: NCI:C202543 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:0111778 name: 46,XY sex reversal 1 def: "A 46 XY sex reversal characterized by an XY karyotype, phenotypically female genitalia and failure to develop secondary sexual characteristics at puberty including menstruation that has_material_basis_in hemizygous mutation in SRY on chromosome Yp11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1956279 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2247151 "DO"] synonym: "46,XY GONADAL DYSGENESIS, COMPLETE, SRY-46,XY TRUE HERMAPHRODITISM, SRY-RELATED" NARROW [] synonym: "46,XY SEX REVERSAL, SRY-RELATED" EXACT [] synonym: "SEX-REVERSING LOCUS ON X" NARROW [] synonym: "SRVX" NARROW [] synonym: "SRXY1" EXACT [] synonym: "TDFX" NARROW [] synonym: "X-chromosomal testis-determining factor" NARROW [] xref: MIM:400044 xref: NCI:C128188 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:14448 ! 46,XY sex reversal is_a: DOID:9006982 ! Ovotesticular Disorders of Sex Development [Term] id: DOID:0111779 name: X-linked panhypopituitarism alt_id: MIM:312000 def: "A panhypopituitarism that has_material_basis_in duplications in the SOX3 gene on chromosome Xq27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15800844 "DO"] synonym: "PHPX" EXACT [] synonym: "pituitary dwarfism IV" EXACT [] xref: GARD:6737 xref: MESH:C538613 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9410 ! panhypopituitarism [Term] id: DOID:0111780 name: TARP syndrome alt_id: MIM:311900 def: "A syndrome characterized by talipes equinovarus, atrial septal defect, Robin sequence (micrognathia, cleft palate, and glossoptosis), and persistent left superior vena cava typically resulting in late prenatal or early postnatal mortality that has_material_basis_in hemizygous mutation in the RBM10 gene on chromosome Xp11.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20451169 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30450804 "DO"] synonym: "Pierre Robin sequence-congenital heart defect-talipes syndrome" EXACT [] synonym: "Pierre Robin syndrome-congenital heart defect-talipes syndrome" EXACT [] synonym: "Pierre Robin syndrome with congenital heart malformation and clubfoot" EXACT [] synonym: "talipes equinovarus, atrial septal defect, Robin sequence, and persistence of left superior vena cava" EXACT [] synonym: "talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome" EXACT [] synonym: "TARPS" EXACT [] xref: GARD:10089 xref: MESH:C536942 xref: ORDO:2886 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11836 ! clubfoot is_a: DOID:1682 ! congenital heart disease is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome [Term] id: DOID:0111781 name: Waisman syndrome def: "A syndrome characterized by delayed psychomotor development, impaired intellectual development, and early-onset Parkinson disease that has_material_basis_in hemizygous or homozygous mutation in the RAB39B gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25434005 "DO"] synonym: "basal ganglia disorder with mental retardation" EXACT [] synonym: "Basal Ganglion Disorder With Mental Retardation" EXACT [] synonym: "BGMR" EXACT [] synonym: "early-onset parkinsonism-intellectual disability syndrome" EXACT [] synonym: "early onset parkinsonism with mental retardation" EXACT [] synonym: "Laxova Brown Hogan syndrome" EXACT [] synonym: "Laxova-Opitz syndrome" EXACT [] synonym: "WSMN" EXACT [] synonym: "WSN" EXACT [] synonym: "X-linked recessive basal ganglia disorder with mental retardation" EXACT [] xref: GARD:3203 xref: MESH:C537179 xref: MIM:311510 xref: MONDO:0010709 xref: NCI:C184991 xref: ORDO:2379 is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:0111782 name: otopalatodigital syndrome spectrum disorder def: "A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10706363 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16926860 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301567 "DO"] synonym: "fronto-otopalatodigital osteodysplasia" EXACT [] synonym: "OPD spectrum disorder" EXACT [] synonym: "OPSD" EXACT [] synonym: "otopalatodigital spectrum disorder" EXACT [] xref: MESH:C567577 xref: ORDO:364541 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111783 name: otopalatodigital syndrome type 1 alt_id: MIM:311300 def: "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20301567 "DO"] synonym: "FRONTOOTOPALATODIGITAL OSTEODYSPLASIA" NARROW [] synonym: "OPD1" EXACT [] synonym: "OPD I SYNDROME" EXACT [] synonym: "OPD syndrome 1" EXACT [] synonym: "Opd Syndrome, Type 1" EXACT [] synonym: "OTOPALATODIGITAL SPECTRUM DISORDER" BROAD [] synonym: "oto-palato-digital syndrome, type 1" EXACT [] synonym: "oto-palato-digital syndrome, type I" EXACT [] synonym: "otopalatodigital syndrome type I" EXACT [] synonym: "Taybi syndrome" EXACT [] xref: GARD:5121 xref: MESH:C536065 xref: NCI:C118845 xref: ORDO:90650 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111784 name: otopalatodigital syndrome type 2 alt_id: MIM:304120 def: "An otopalatodigital syndrome spectrum disorder characterized by disabling skeletal anomalies and variable malformations in the hindbrain, heart, intestines, and kidneys that frequently lead to perinatal death in males and less severe phenotypes in females that has_material_basis_in hemizygous or heterozygous mutation in exons 3, 4, or 5 in males or exons 28 or 29 in females of the FLNA gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/otopalatodigital-syndrome-type-2 "DO", https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15654694 "DO"] synonym: "Andre syndrome" EXACT [] synonym: "Cranioorodigital Syndrome" EXACT [] synonym: "cranio-oro-digital syndrome" EXACT [] synonym: "Faciopalatoosseous syndrome" EXACT [] synonym: "FPO" EXACT [] synonym: "OPD2" EXACT [] synonym: "OPD II Syndrome" EXACT [] synonym: "OPD Syndrome 2" EXACT [] synonym: "OPD Syndrome, Type 2" EXACT [] synonym: "Oto-Palato-Digital Syndrome, Type 2" EXACT [] synonym: "otopalatodigital syndrome type II" EXACT [] xref: GARD:5802 xref: MESH:C538089 xref: ORDO:90652 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111785 name: frontometaphyseal dysplasia def: "An otopalatodigital syndrome spectrum disorder characterized by abnormal ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism, urogenital anomalies, and hearing loss. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15523633 "DO"] synonym: "FMD" EXACT [] xref: GARD:826 xref: MESH:C538064 xref: MIM:PS305620 is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111786 name: frontometaphyseal dysplasia 1 def: "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, and urogenital defects that has_material_basis_in homozygous or hemizygous mutation in FLNA on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15523633 "DO"] synonym: "FMD1" EXACT [] xref: MIM:305620 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111785 ! frontometaphyseal dysplasia [Term] id: DOID:0111787 name: frontometaphyseal dysplasia 2 def: "A frontometaphyseal dysplasia characterized by generalized skeletal dysplasia, deafness, urogenital defects and an increased tendency to form keloid scars that has_material_basis_in heterozygous mutation in MAP3K7 on chromosome 6q15. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27426733 "DO"] synonym: "FMD2" EXACT [] xref: MIM:617137 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111785 ! frontometaphyseal dysplasia created_by: slaulede creation_date: 2018-11-09T17:18:38Z [Term] id: DOID:0111788 name: Melnick-Needles syndrome def: "An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/melnick-needles-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/12612583 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16538226 "DO"] synonym: "Melnick Needles Osteodysplasty" EXACT [] synonym: "MNS" EXACT [] synonym: "Osteodysplasty of Melnick and Needles" EXACT [] xref: GARD:7011 xref: MIM:309350 xref: ORDO:1826 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder [Term] id: DOID:0111789 name: Frank-Ter Haar syndrome def: "An otopalatodigital syndrome spectrum disorder characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks, and micrognathia) and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the SH3PXD2B gene on chromosome 5q35.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15523657 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20137777 "DO"] synonym: "BORRONE DERMATOCARDIOSKELETAL SYNDROME" EXACT [] synonym: "Borrone Di Rocco Crovato Syndrome" EXACT [] synonym: "FTHS" EXACT [] synonym: "megalocornea, multiple skeletal anomalies, and developmental delay" EXACT [] synonym: "Melnick-Needles syndrome, autosomal recessive" EXACT [] synonym: "Ter Haar syndrome" EXACT [] xref: GARD:5138 xref: MESH:C537274 xref: MIM:249420 xref: MONDO:0009579 xref: ORDO:137834 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111782 ! otopalatodigital syndrome spectrum disorder is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:381 ! arthropathy is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:988 ! mitral valve prolapse [Term] id: DOID:0111790 name: congenital nystagmus 1 alt_id: MIM:310700 def: "A congenital nystagmus that has_material_basis_in mutation in the FRMD7 gene on chromosome Xq26.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17013395 "DO"] synonym: "congenital motor nystagmus" EXACT [] synonym: "FRMD7-related infantile nystagmus" EXACT [] synonym: "IIN" NARROW [] synonym: "NYS1" EXACT [] synonym: "Nystagmus 1, Congenital, X- Linked" EXACT [] synonym: "Nystagmus 1, Infantile, X-Linked" EXACT [] synonym: "Nystagmus, congenital motor, 1" EXACT [] synonym: "NYSTAGMUS, INFANTILE IDIOPATHIC" NARROW [] synonym: "NYSTAGMUS, INFANTILE PERIODIC ALTERNATING, X-LINKED" NARROW [] synonym: "XIPAN" NARROW [] synonym: "X-Linked Congenital Nystagmus" EXACT [] synonym: "X-linked idiopathic infantile nystagmus" EXACT [] synonym: "X-linked infantile nystagmus" EXACT [] synonym: "XLPAN" NARROW [] xref: GARD:2969 xref: MESH:C537853 xref: MESH:C580539 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:9649 ! congenital nystagmus created_by: slaulede creation_date: 2019-06-28T10:46:49Z [Term] id: DOID:0111791 name: congenital nystagmus 7 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 1q31.3-q32.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22065086 "DO"] synonym: "congenital nystagmus 7, autosomal dominant" EXACT [] synonym: "NYS7" EXACT [] xref: MIM:614826 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111792 name: congenital nystagmus 2 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 6p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8661013 "DO"] synonym: "congenital motor nystagmus 2" EXACT [] synonym: "NYS2" EXACT [] synonym: "Nystagmus 2, Congenital, Autosomal Dominant" EXACT [] xref: GARD:9599 xref: MESH:C537854 xref: MIM:164100 xref: MONDO:0008106 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9649 ! congenital nystagmus created_by: mtutaj creation_date: 2020-01-21T14:21:39Z [Term] id: DOID:0111793 name: congenital nystagmus 3 alt_id: MIM:608345 def: "A congenital nystagmus that has_material_basis_in heterozygous mutation in a region of chromosome 7p11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9806847 "DO"] synonym: "congenital nystagmus 3, autosomal dominant" EXACT [] synonym: "NYS3" EXACT [] xref: GARD:9600 xref: MESH:C537855 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111795 name: congenital nystagmus 6 def: "A congenital nystagmus that has_material_basis_in hemizygous of homoxygous mutation in the GPR143 gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17516023 "DO"] synonym: "congenital nystagmus 6, X-linked" EXACT [] synonym: "GPR143-RELATED CONDITION" BROAD [] synonym: "NYS6" EXACT [] xref: MIM:300814 is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111796 name: congenital nystagmus 5 def: "A congenital nystagmus that has_material_basis_in hemizygous or heterozygous mutation in a region of chromosome Xp11.4. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10090899 "DO"] synonym: "congenital nystagmus 5, X-linked" EXACT [] synonym: "NYS5" EXACT [] xref: MIM:300589 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111797 name: autosomal recessive congenital nystagmus alt_id: MIM:257400 def: "A congenital nystagmus characterized by autosomal recessive inheritance. (DO)" [https://europepmc.org/article/med/305814 "DO"] synonym: "congenital motor nystagmus, autosomal recessive" EXACT [] xref: GARD:9609 xref: MESH:C564938 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:0111798 name: X-linked nephrolithiasis type I alt_id: MIM:310468 def: "A renal tubular transport disease characterized by proximal renal tubular reabsorptive failure, hypercalciuria, nephrolithiasis, and renal insufficiency with absence of rickets that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.23. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15558518 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8559248 "DO"] synonym: "Nephrolithiasis 1" EXACT [] synonym: "NEPHROLITHIASIS, X-LINKED RECESSIVE" EXACT [] synonym: "Nephrolithiasis, X-Linked Recessive, Type 1" EXACT [] synonym: "NPHL1" EXACT [] synonym: "Urolithiasis, X-Linked Recessive, Type 1" EXACT [] synonym: "X-linked nephrolithiasis with renal failure" EXACT [] synonym: "X-linked recessive nephrolithiasis with renal failure" EXACT [] synonym: "XRN" EXACT [] xref: MESH:C562901 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080652 ! calcium oxalate nephrolithiasis is_a: DOID:1074 ! kidney failure is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:0111799 name: syndromic microphthalmia 1 alt_id: DOID:0111810 alt_id: MIM:309800 def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/lenz-microphthalmia-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/30842225/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/13300470 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24431331 "DO"] comment: type 4 obsoleted by omim, merged into type 1[LS] synonym: "ANOP1" EXACT [] synonym: "ANOPHTHALMIA - MICROPHTHALMIA" EXACT [] synonym: "Lenz dysmorphogenic syndrome" EXACT [] synonym: "Lenz dysplasia" EXACT [] synonym: "Lenz microphthalmia" EXACT [] synonym: "Lenz microphthalmia syndrome" EXACT [] synonym: "Lenz syndrome" EXACT [] synonym: "Lenz type microphthalmia" EXACT [] synonym: "MAA" EXACT [] synonym: "MCOPS1" EXACT [] synonym: "MCOPS4" NARROW [] synonym: "microphthalmia-ankyloblepharon-intellectual disability syndrome" EXACT [] synonym: "microphthalmia or anophthalmos with associated anomalies" EXACT [] synonym: "microphthalmia with ankyloblepharon and mental retardation" EXACT [] synonym: "syndromic microphthalmia 4" NARROW [] xref: GARD:5066 xref: GARD:87 xref: MESH:C537464 xref: ORDO:568 xref: ORDO:85275 is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:9002049 ! Anophthalmia is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0111800 name: syndromic microphthalmia 12 def: "A syndromic microphthalmia characterized by bilateral microphthalmia, pulmonary hypoplasia, and diaphragmatic hernia that has_material_basis_in compound heterozygous or heterozygous mutation in the RARB gene on chromosome 3p24.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17506106 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24075189 "DO"] synonym: "MCOPS12" EXACT [] synonym: "Microphthalmia with or without Pulmonary Hypoplasia, Diaphragmatic Hernia, and/or Cardiac Defects" EXACT [] xref: GARD:13235 xref: MIM:615524 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080636 ! syndromic microphthalmia created_by: slaulede creation_date: 2019-06-21T11:40:53Z [Term] id: DOID:0111801 name: syndromic microphthalmia 3 alt_id: MIM:206900 def: "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, with various extraocular symptoms that has_material_basis_in heterozygous mutation in the SOX2 gene on chromosome 3q26.33. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12612584 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20803647 "DO"] synonym: "AEG syndrome" EXACT [] synonym: "anophthalmia/microphthalmia-esophageal atresia syndrome" EXACT [] synonym: "Anophthalmia, Clinical, With Associated Anomalies" EXACT [] synonym: "Anophthalmia-Esophageal-Genital Syndrome" EXACT [] synonym: "anophthalmia microphthalmia esophageal atresia" EXACT [] synonym: "MCOPS3" EXACT [] synonym: "Microphthalmia And Esophageal Atresia Syndrome" EXACT [] synonym: "OPTIC NERVE HYPOPLASIA AND ABNORMALITIES OF THE CENTRAL NERVOUS SYSTEM" NARROW [] synonym: "Sox2 Anophthalmia Syndrome" EXACT [] synonym: "SOX2-related eye disorders" EXACT [] synonym: "syndromic microphthalmia type 3" EXACT [] xref: GARD:1443 xref: MESH:C565948 xref: ORDO:77298 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:10485 ! esophageal atresia is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0111802 name: syndromic microphthalmia 14 def: "A syndromic microphthalmia characterized by microphthalmia with coloboma or clinical anophthalmia, with or without rhizomelic skeletal dysplasia that has_material_basis_in heterozygous or homozygous mutation in the MAB21L2 gene on chromosome 4q31.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24906020 "DO"] synonym: "colobomatous microphthalmia-rhizomelic dysplasia syndrome" EXACT [] synonym: "MCOPS14" EXACT [] synonym: "MCSKS" EXACT [] synonym: "MICROPHTHALMIA/COLOBOMA AND SKELETAL DYSPLASIA SYNDROME" EXACT [] synonym: "microphthalmia and/or coloboma with or without rhizomelic skeletal dysplasia" EXACT [] synonym: "MICROPHTHALMIA AND COLOBOMA, WITH OR WITHOUT RHIZOMELIC SKELETAL DYSPLASIA" EXACT [] synonym: "microphthalmia or coloboma with or without rhizomelic skeletal dysplasia" EXACT [] xref: MIM:615877 xref: ORDO:424099 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:12270 ! coloboma [Term] id: DOID:0111803 name: syndromic microphthalmia 8 alt_id: MIM:601349 def: "A syndromic microphthalmia characterized by microcephaly, microphthalmia, ectrodactyly of the lower limbs, prognathism and intellectual disability that has_material_basis_in mutation in a region of chromosome 6q21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12471201 "DO"] synonym: "MCOPS8" EXACT [] synonym: "microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism" EXACT [] synonym: "microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome" EXACT [] synonym: "MMEP" EXACT [] synonym: "MMEP syndrome" EXACT [] synonym: "syndromic microphthalmia type 8" EXACT [] synonym: "Viljoen-Smart syndrome" EXACT [] xref: GARD:3693 xref: MESH:C537686 xref: ORDO:3434 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:10907 ! microcephaly is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9003576 ! Prognathism [Term] id: DOID:0111804 name: syndromic microphthalmia 11 def: "A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22095910 "DO"] synonym: "MCOPS11" EXACT [] xref: MIM:614402 is_a: DOID:0080636 ! syndromic microphthalmia created_by: mtutaj creation_date: 2020-03-02T08:45:39Z [Term] id: DOID:0111805 name: syndromic microphthalmia 6 alt_id: MIM:607932 def: "A syndromic microphthalmia characterized by clinical anophthalmia or microphthalmia, retinal dystrophy, and/or myopia, associated in some cases with cerebral anomalies that has_material_basis_in heterozygous mutation in the BMP4 gene on chromosome 14q22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18252212 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21340693 "DO"] synonym: "Anophthalmia, Clinical, With Micrognathia, Malformed Ears, Digital Anomalies, And Abnormal External Genitalia" EXACT [] synonym: "Bakrania-Ragge syndrome" EXACT [] synonym: "BMP4-RELATED CONDITION" BROAD [] synonym: "BMP4-RELATED SYNDROMIC MICROPHTHALMIA" EXACT [] synonym: "MCOPS6" EXACT [] synonym: "Microphthalmia And Pituitary Anomalies" EXACT [] synonym: "microphthalmia with brain and digit anomalies" EXACT [] synonym: "microphthalmia with brain and digit developmental anomalies" EXACT [] synonym: "syndromic microphthalmia type 6" EXACT [] xref: GARD:3645 xref: MESH:C566440 xref: ORDO:139471 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:0111806 name: syndromic microphthalmia 5 alt_id: MIM:610125 def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15846561 "DO"] synonym: "ANOPHTHALMIA-MICROPHTHALMIA SYNDROME" EXACT [] synonym: "early-onset retinal dystrophy and pituitary dysfunction" NARROW [] synonym: "MCOPS5" EXACT [] synonym: "MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION," EXACT [] synonym: "OTX2-RELATED SYNDROMIC MICROPHTHALMIA" EXACT [] synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [] synonym: "syndromic microphthalmia type 5" EXACT [] xref: GARD:3692 xref: MESH:C566441 xref: ORDO:178364 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080636 ! syndromic microphthalmia [Term] id: DOID:0111807 name: syndromic microphthalmia 9 alt_id: DOID:0050819 alt_id: MIM:601186 def: "A syndromic microphthalmia characterized by bilateral clinical anophthalmia, pulmonary hypoplasia or aplasia, cardiac malformations, and diaphragmatic defects that has_material_basis_in homozygous or compound heterozygous mutation in the STRA6 gene on chromosome 15q24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17236193 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17273977 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26373900 "DO"] synonym: "anophthalmia/microphthalmia and pulmonary hypoplasia" EXACT [] synonym: "anophthalmia-pulmonary hypoplasia syndrome" EXACT [] synonym: "Anophthalmia with Pulmonary Hypoplasia" EXACT [] synonym: "clinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformations" EXACT [] synonym: "clinical anophthalmia with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm" EXACT [] synonym: "ISOLATED ANOPHTHALMIA-MICROPHTHALMIA SYNDROME" EXACT [] synonym: "Matthew-Wood syndrome" EXACT [] synonym: "MCOPCB8" NARROW [] synonym: "MCOPS9" EXACT [] synonym: "PMD MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 8" NARROW [] synonym: "PULMONARY AGENESIS, MICROPHTHALMIA, AND DIAPHRAGMATIC DEFECT" NARROW [] synonym: "pulmonary agenesis microphthalmi and diaphragmatic defect" EXACT [] synonym: "Spear Syndrome" EXACT [] synonym: "syndromic microphthalmia type 9" EXACT [] xref: MESH:C537768 xref: ORDO:2470 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:850 ! lung disease is_a: DOID:9002049 ! Anophthalmia created_by: slaulede creation_date: 2019-10-10T16:54:05Z [Term] id: DOID:0111808 name: linear skin defects with multiple congenital anomalies 1 alt_id: MIM:309801 def: "A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia and linear skin defects on the face and neck in females and in utero lethality in males that has_material_basis_in heterozygous or hemizygous mutation in the HCCS gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17033964 "DO"] synonym: "LSDMCA1" EXACT [] synonym: "MCOPS7" EXACT [] synonym: "microphthalmia, dermal aplasia, and sclerocornea" EXACT [] synonym: "microphthalmia-dermal aplasia-sclerocornea syndrome" EXACT [] synonym: "Microphthalmia with linear skin defect syndrome" EXACT [] synonym: "microphthalmia with linear skin lesions syndrome" EXACT [] synonym: "Midas syndrome" EXACT [] synonym: "syndromic microphthalmia 7" EXACT [] synonym: "syndromic microphthalmia type 7" EXACT [] xref: MESH:C537466 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:0111875 ! MLS syndrome [Term] id: DOID:0111809 name: syndromic microphthalmia 2 alt_id: MIM:300166 def: "A syndromic microphthalmia characterized by dental radiculomegaly, congenital cataract, microphthalmia, facial dismorphism and congenital heart disease that has_material_basis_in heterozygous mutation in the BCOR gene on chromosome Xp11.4. (DO)" [https://ghr.nlm.nih.gov/condition/oculofaciocardiodental-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15004558 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8723122 "DO"] synonym: "ANOP2" EXACT [] synonym: "BCOR-RELATED CONDITION" EXACT [] synonym: "BCOR-RELATED DISORDER" EXACT [] synonym: "cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome" EXACT [] synonym: "cataracts, microphthalmia, radiculomegaly and septal heart defects" EXACT [] synonym: "MAA2" EXACT [] synonym: "Marashi Gorlin syndrome" EXACT [] synonym: "MCOPS2" EXACT [] synonym: "oculo facio cardio dental syndrome" EXACT [] synonym: "oculofaciocardiodental syndrome" EXACT [] synonym: "OFCD syndrome" EXACT [] synonym: "syndromic microphthalmia type 2" EXACT [] xref: GARD:4628 xref: MESH:C537465 xref: ORDO:2712 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:1681 ! heart septal defect is_a: DOID:83 ! cataract [Term] id: DOID:0111811 name: syndromic microphthalmia 13 def: "A syndromic microphthalmia characterized by colobomatous microphthalmia, microcephaly, short stature, and psychomotor retardation that has_material_basis_in mutation in the HMGB3 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24993872 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4998085 "DO"] synonym: "colobomatous microphthalmia with microcephaly, short stature, and psychomotor retardation" EXACT [] synonym: "MAINE MICROPHTHALMOS" EXACT [] synonym: "MCOPS13" EXACT [] synonym: "X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome" EXACT [] xref: MIM:300915 xref: ORDO:431140 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:10907 ! microcephaly [Term] id: DOID:0111812 name: syndromic microphthalmia 10 alt_id: MIM:611222 def: "A syndromic microphthalmia characterized by congenital microphthalmia and blindness, microcephaly, progressive spasticity, seizures, progressive atrophy of the brain and profound intellectual disability. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16566018 "DO"] synonym: "MCOPS10" EXACT [] synonym: "microphthalmia and brain atrophy" EXACT [] synonym: "microphthalmia-brain atrophy syndrome" EXACT [] synonym: "MOBA" EXACT [] xref: GARD:9292 xref: MESH:C566985 xref: ORDO:77299 is_a: DOID:0080636 ! syndromic microphthalmia is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:0111813 name: syndactyly type 8 alt_id: MIM:309630 def: "A syndactyly characterized by isolated fusion of the fourth and fifth metacarpals that has_material_basis_in hemizygous or homozygous mutation in the FGF16 gene on chromosome Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23709756 "DO"] synonym: "fusion of metacarpals 4 and 5" EXACT [] synonym: "Metacarpal 4 5 Fusion" EXACT [] synonym: "MF4" EXACT [] xref: GARD:3559 xref: MESH:C564100 xref: ORDO:2498 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11193 ! syndactyly is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:0111814 name: methylmalonic acidemia and homocysteinemia cblX type alt_id: MESH:C563136 def: "A methylmalonic acidemia characterized by onset in infancy of severely delayed psychomotor development, failure to thrive, intellectual disability, and intractable epilepsy that has_material_basis_in hemizygous or homozygous mutation in the HCFC1 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23000143 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24011988 "DO"] synonym: "combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX" EXACT [] synonym: "MAXCX" EXACT [] synonym: "methylmalonic aciduria with homocystinuria, type cblX" EXACT [] synonym: "MRX3" EXACT [] synonym: "XLID3" EXACT [] synonym: "X-linked intellectual developmental disorder 3" EXACT [] synonym: "X-linked mental retardation 3" EXACT [] xref: MIM:309541 xref: ORDO:369962 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0111815 name: low molecular weight proteinuria with hypercalciuric nephrocalcinosis alt_id: MIM:308990 def: "A Dent disease characterized by elevated levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in the CLCN5 gene on chromosome Xp11.22. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9062355 "DO"] synonym: "low molecular weight proteinuria with hypercalciuria and nephrocalcinosis" EXACT [] xref: MESH:C545036 is_a: DOID:0050699 ! Dent disease is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:9001738 ! Hypercalciuria [Term] id: DOID:0111816 name: syndactyly type 1 def: "A syndactyly characterized by complete or partial webbing between the third and fourth fingers and/or the second and third toes that has_material_basis_in heterozygous duplication of a region of chromosome 2q34-q36. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21167467 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7915184 "DO"] synonym: "CHROMOSOME 2q35 DUPLICATION SYNDROME" EXACT [] synonym: "craniosynostosis, Philadelphia type" NARROW [] synonym: "SD1" EXACT [] synonym: "SDTY1" EXACT [] synonym: "syndactyly type 1, with or without craniosynostosis" EXACT [] synonym: "syndactyly type I" EXACT [] synonym: "zygodactyly 2" EXACT [] xref: GARD:5081 xref: MESH:C566096 xref: MIM:185900 xref: MONDO:0008512 xref: ORDO:93402 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111817 name: syndactyly type 3 alt_id: MIM:186100 def: "A syndactyly characterized by complete and bilateral syndactyly between the 4th and 5th fingers that has_material_basis_in heterozygous mutation in the GJA1 gene on chromosome 6q22.31. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12457340 "DO", https://www.ncbi.nlm.nih.gov/pubmed/14361398 "DO"] synonym: "familial syndactyly type 3" EXACT [] synonym: "Ring and little finger syndactyly" EXACT [] synonym: "ringand little finger syndactyly" EXACT [] synonym: "SDTY3" EXACT [] synonym: "syndactyly of fingers 4 and 5" EXACT [] synonym: "Syndactyly of fingers four and five" EXACT [] synonym: "syndactyly of fingers IV and V" EXACT [] synonym: "syndactyly of the ring and little finger" EXACT [] synonym: "syndactyly type III" EXACT [] xref: GARD:5088 xref: MESH:C538154 xref: ORDO:93404 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111818 name: syndactyly type 4 alt_id: MIM:186200 def: "A syndactyly characterized by complete bilateral syndactyly involving all digits 1 to 5 that has_material_basis_in heterozygous mutation of a SHH regulatory element in intron 5 of the LMBR1 gene on chromosome 7q36.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17476456 "DO"] synonym: "Haas type polysyndactyly" EXACT [] synonym: "Haas type syndactyly" EXACT [] synonym: "SD4" EXACT [] synonym: "SDTY4" EXACT [] synonym: "syndactyly type IV" EXACT [] xref: GARD:4434 xref: MESH:C566092 xref: ORDO:93405 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:1148 ! polydactyly [Term] id: DOID:0111819 name: syndactyly type 5 alt_id: MIM:186300 def: "A syndactyly characterized by postaxial syndactyly of the hands and feet associated with metacarpal and metatarsal fusion typically affecting the 4th and 5th or the 3rd and 4th digits that has_material_basis_in heterozygous mutation in the HOXD13 gene on chromosome 2q31.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16222680 "DO"] synonym: "SDTY5" EXACT [] synonym: "syndactyly type V" EXACT [] synonym: "syndactyly with associated metacarpal and metatarsal fusion" EXACT [] synonym: "syndactyly with metacarpal and metatarsal fusion" EXACT [] xref: GARD:5089 xref: MESH:C538155 xref: ORDO:93406 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly [Term] id: DOID:0111820 name: zygodactyly 1 def: "A syndactyly characterized by webbing between the second and third toes in the absence of hand involvement. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16189548 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27072775 "DO"] synonym: "ZD1" EXACT [] xref: MESH:C565223 xref: MIM:609815 xref: MONDO:0012351 is_a: DOID:11193 ! syndactyly created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0111821 name: ichthyosis follicularis-alopecia-photophobia syndrome 1 def: "A syndrome characterized by ichthyosis follicularis, atrichia, and photophobia that has_material_basis_in hemizygous or homozygous mutation in the MBTPS2 gene on chromosome Xp22.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22105905 "DO", https://www.ncbi.nlm.nih.gov/pubmed/4037843 "DO"] synonym: "ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia" EXACT [] synonym: "ichthyosis follicularis-atrichia-photophobia syndrome 1" EXACT [] synonym: "IFAP1" EXACT [] synonym: "IFAP syndrome 1" EXACT [] synonym: "IFAP syndrome-1 with or without Bresheck syndrome" EXACT [] synonym: "IFAP syndrome with or without Bresheck syndrome" EXACT [] xref: MESH:C536085 xref: MIM:308205 xref: MONDO:0100213 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9002152 ! IFAP Syndrome created_by: mtutaj creation_date: 2019-12-03T10:50:34Z [Term] id: DOID:0111822 name: CHILD syndrome alt_id: MIM:308050 alt_id: OMIA:002117 def: "A syndrome characterized by congenital hemidysplasia, ichythyosiform erythrodema, and limb defects that has_material_basis_in heterozygous mutation in the NSDHL gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7408908 "DO"] synonym: "CHILD nevus" EXACT [] synonym: "congenital hemidysplasia with ichthyosiform erythroderma and limb defects" EXACT [] synonym: "congenital hemidysplasia with ichthyosiform nevus and limbs defects" EXACT [] synonym: "unilateral ichthyosiform erythroderma, with ipsilateral malformations, especially absence deformity of limbs" EXACT [] xref: GARD:6039 xref: MESH:C562515 xref: ORDO:139 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111823 name: autosomal hemophilia A def: "A blood coagulation disease characterized by autosomal inheritance of a Factor VIII deficiency. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1169993 "DO"] synonym: "autosomal factor VIII deficiency" EXACT [] synonym: "MILD HEMOPHILIA A" NARROW [] xref: MIM:134500 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:12134 ! factor VIII deficiency [Term] id: DOID:0111824 name: Aarskog syndrome def: "A syndrome characterized by facial, limbs and genital anomalies, and a disproportionate acromelic short stature. (DO)" [https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome "DO"] synonym: "Aarskog disease" EXACT [] synonym: "Aarskog-Scott syndrome" EXACT [] synonym: "AAS" EXACT [] synonym: "Facio-Digito-Genital Dysplasia" EXACT [] synonym: "faciodigitogenital syndrome" EXACT [] synonym: "faciogenital dysplasia" EXACT [] synonym: "FGDY" EXACT [] xref: MESH:C535331 xref: ORDO:915 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:0111825 name: autosomal dominant Aarskog syndrome def: "An Aarskog syndrome characterized by autosomal dominant inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6344635 "DO"] xref: MIM:100050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111824 ! Aarskog syndrome [Term] id: DOID:0111826 name: Abruzzo-Erickson syndrome alt_id: MIM:302905 def: "A syndrome characterized by cleft palate, coloboma, hypospadias, deafness, short stature, and radial synostosis that has_material_basis_in hemizygous mutation in the TBX22 gene on chromosome Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22784330 "DO", https://www.ncbi.nlm.nih.gov/pubmed/839509 "DO"] synonym: "ABERS" EXACT [] synonym: "Charge-Like Syndrome, X-Linked" EXACT [] synonym: "cleft palate-coloboma-deafness syndrome" EXACT [] xref: GARD:360 xref: MESH:C535559 xref: ORDO:921 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:9003483 ! Conductive Hearing Loss is_a: DOID:9004563 ! Maxillofacial Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities created_by: mtutaj creation_date: 2019-03-26T12:22:42Z [Term] id: DOID:0111827 name: X-linked spinal muscular atrophy 2 alt_id: MIM:301830 def: "A spinal muscular atrophy characterized by neonatal onset of severe hypotonia, areflexia, and multiple congenital contractures associated with loss of anterior horn cells and infantile death that has_material_basis_in hemizygous mutation in the UBA1 gene on chromosome Xp11.3. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-infantile-spinal-muscular-atrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/18179898 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3341327 "DO"] synonym: "Amcx1" EXACT [] synonym: "Arthrogryposis, X-Linked, Type I" EXACT [] synonym: "distal AMC, X-linked" EXACT [] synonym: "Distal Arthrogryposis Multiplex Congenita, X-Linked" EXACT [] synonym: "infantile-onset X-linked spinal muscular atrophy" EXACT [] synonym: "Smax2" EXACT [] synonym: "spinal muscular atrophy with arthrogryposis" EXACT [] synonym: "X-linked spinal muscular atrophy, infantile" EXACT [] synonym: "X-linked spinal muscular atrophy, lethal infantile" EXACT [] synonym: "X-linked spinal muscular atrophy type 2" EXACT [] synonym: "XLSMA" EXACT [] xref: GARD:8521 xref: MESH:C535380 xref: ORDO:1145 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:0111828 name: X-linked cerebellar ataxia def: "A hereditary ataxia characterized by X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10807077 "DO"] xref: ORDO:247765 is_a: DOID:0050953 ! X-linked hereditary ataxia [Term] id: DOID:0111829 name: X-linked spinocerebellar ataxia 1 def: "An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10797423 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22912398 "DO"] synonym: "Olivopontocerebellar Atrophy, X-Linked" EXACT [] synonym: "OPCAX" EXACT [] synonym: "OPCA, X-Linked" EXACT [] synonym: "SCAX1" EXACT [] synonym: "X-linked progressive cerebellar ataxia" EXACT [] synonym: "X-linked spinocerebellar ataxia" EXACT [] xref: MESH:C563134 xref: MIM:302500 xref: MONDO:0010547 xref: ORDO:1175 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:14784 ! olivopontocerebellar atrophy is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111830 name: X-linked spinocerebellar ataxia 2 def: "An X-linked cerebellar ataxia characterized by infantile onset of ataxia, severe atrophy of the cerebellum, diffuse small cysts, pale inferior olives, and gliosis with X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13541590 "DO"] synonym: "early-onset cerebellar ataxia with extrapyramidal involvement" EXACT [] synonym: "SCAX2" EXACT [] xref: GARD:9978 xref: MESH:C537314 xref: MIM:302600 xref: MONDO:0010548 is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111831 name: X-linked spinocerebellar ataxia 3 alt_id: MIM:301790 def: "An X-linked cerebellar ataxia characterized by onset in infancy of hypotonia, ataxia, sensorineural deafness, developmental delay, esotropia, and optic atrophy with X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3614654 "DO"] synonym: "SCAX3" EXACT [] synonym: "Schmidley syndrome" EXACT [] synonym: "X-linked ataxia-deafness syndrome" EXACT [] synonym: "X-linked spinocerebellar ataxia type 3" EXACT [] xref: GARD:9981 xref: MESH:C537315 xref: ORDO:85297 is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111832 name: X-linked spinocerebellar ataxia 4 alt_id: MIM:301840 def: "An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3470628 "DO"] synonym: "SCAX4" EXACT [] synonym: "X-linked ataxia-dementia syndrome" EXACT [] synonym: "X-linked spinocerebellar ataxia type 4" EXACT [] xref: GARD:9980 xref: MESH:C537316 xref: ORDO:85292 is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:0111833 name: X-linked spinocerebellar ataxia 5 def: "An X-linked cerebellar ataxia characterized by neonatal hypotonia, delayed motor development, nonprogressive ataxia, nystagmus, and dysarthria that has_material_basis_in hemizygous mutation in region of chromosome Xq25-q27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18241076 "DO"] synonym: "SCAX5" EXACT [] synonym: "X-linked non progressive cerebellar ataxia" EXACT [] xref: MESH:C567478 xref: MIM:300703 xref: MONDO:0010404 xref: ORDO:314978 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111828 ! X-linked cerebellar ataxia is_a: DOID:9002121 ! Spinocerebellar Ataxias created_by: mtutaj creation_date: 2019-07-15T08:51:37Z [Term] id: DOID:0111834 name: X-linked reticulate pigmentary disorder def: "A pigmentation disease characterized by early onset of recurrent respiratory infections, failure to thrive resulting from inflammatory gastroenteritis or colitis, and reticular pigmentation abnormalities of the skin in hemizygous males and only pigmentary abnormalities along the lines of Blaschko in heterozygous females that has_material_basis_in mutation in the POLA1 gene on chromosome Xp22.1-p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27019227 "DO"] synonym: "familial cutaneous amyloidosis" EXACT [] synonym: "Partington disease" EXACT [] synonym: "PDR" EXACT [] synonym: "Pigmentary disorder, reticulate, with systemic manifestations, X-linked" EXACT [] synonym: "POLA1-RELATED CONDITION" BROAD [] synonym: "reticulate pigmentary disorder with systemic manifestations" EXACT [] synonym: "X-linked reticulate pigmentary disorder with systemic manifestations" EXACT [] synonym: "XLPDR" EXACT [] xref: MESH:C564461 xref: MIM:301220 xref: ORDO:85453 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:0111835 name: congenital nongoitrous hypothyroidism 9 def: "A congenital hypothyroidism characterized by a small thyroid gland with low free T4 levels and inappropriately normal levels of thyroid-stimulating hormone that has_material_basis_in hemizygous mutation in the IRS4 gene on chromosome Xq22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30061370 "DO"] synonym: "CHNG9" EXACT [] xref: MIM:301035 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0111836 name: congenital nongoitrous hypothyroidism 7 alt_id: MIM:618573 def: "A congenital hypothyroidism characterized by normal-to-low T4 and normal-to-high thyrotropin levels, with reduced or absent pituitary responsiveness to thyrotropin-releasing hormone that has_material_basis_in homozygous or compound heterozygous mutation in the TRHR gene on chromosome 8q23.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9141550 "DO"] synonym: "central hypothyroidism due to TRH receptor deficiency" EXACT [] synonym: "CHNG7" EXACT [] synonym: "generalized thyrotropin-releasing hormone resistance" EXACT [] synonym: "resistance to thyrotropin-releasing hormone syndrome" EXACT [] synonym: "TRH resistance syndrome" EXACT [] xref: MESH:C566049 xref: ORDO:99832 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism [Term] id: DOID:0111837 name: congenital nongoitrous hypothyroidism 8 def: "A congenital hypothyroidism characterized by relatively mild central hypothyroidism that has_material_basis_in heterozygous or hemizygous mutation in the TBL1X gene on chromosome Xp22.3-p22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27603907 "DO"] synonym: "CHNG8" EXACT [] xref: MIM:301033 xref: MONDO:0026731 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9000591 ! Congenital Nongoitrous Hypothyroidism created_by: rgd creation_date: 2017-03-28T00:00:00Z [Term] id: DOID:0111838 name: Basilicata-Akhtar syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30224647 "DO"] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, 36" EXACT [] synonym: "MRXS36" EXACT [] synonym: "MRXSBA" EXACT [] synonym: "syndromic X-linked mental retardation 36" EXACT [] synonym: "syndromic X-linked mental retardation, Basilicata-Akhtar type" EXACT [] xref: MIM:301032 xref: MONDO:0026730 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:0111839 name: congenital disorder of glycosylation Icc def: "A congenital disorder of glycosylation type I characterized by developmental delay, impaired intellectual development, and mild facial dysmorphism associated with abnormal serum transferrin isoelectic focusing consistent with a type 1 pattern that has_material_basis_in hemizygous mutation in the MAGT1 gene on chromosome Xq21.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31036665 "DO"] synonym: "CDG1CC" EXACT [] synonym: "congenital disorder of glycosylation type 1CC" EXACT [] synonym: "congenital disorder of glycosylation type Icc" EXACT [] synonym: "MAGT1-RELATED CONDITION" BROAD [] xref: MIM:301031 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111840 name: Van Esch-O'Driscoll syndrome def: "A syndromic X-linked intellectual disability characterized by variable degrees of intellectual disability, moderate to severe short stature, microcephaly, hypogonadism, and variable congenital malformations that has_material_basis_in hemizygous mutation in the POLA1 gene on chromosome Xp22.1-p21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31006512 "DO"] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, VAN ESCH-O'DRISCOLL TYPE" EXACT [] synonym: "MRXSVEOD" EXACT [] synonym: "POLA1-RELATED CONDITION" BROAD [] synonym: "VEODS" EXACT [] synonym: "X-LINKED INTELLECTUAL DISABILITY, VAN ESCH TYPE" EXACT [] xref: MIM:301030 xref: ORDO:163976 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111841 name: Shukla-Vernon syndrome def: "A syndrome characterized by global developmental delay, variably impaired intellectual development, variable dysmorphic features, and behavioral abnormalities, including autism spectrum disorder and ADHD that has_material_basis_in hemizygous mutation in the BCORL1 gene on chromosome Xq26.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30941876 "DO"] synonym: "SHUVER" EXACT [] xref: EFO:0010278 xref: MIM:301029 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:0111842 name: Keipert syndrome alt_id: MIM:301026 def: "A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has_material_basis_in hemizygous mutation in the GPC4 gene on chromosome Xq26.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30982611 "DO"] synonym: "KPTS" EXACT [] synonym: "nasodigitoacoustic syndrome" EXACT [] xref: GARD:267 xref: MESH:C538337 xref: NCI:C186306 xref: ORDO:2662 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital is_a: DOID:9008681 ! Deafness [Term] id: DOID:0111843 name: Paganini-Miozzo syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, high myopia, and mild dysmorphic facial features that has_material_basis_in hemizygous mutation in the HS6ST2 gene on chromosome Xq26.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30471091 "DO"] synonym: "MENTAL RETARDATION, X-LINKED, SYNDROMIC, PAGANINI-MIOZZO TYPE" EXACT [] synonym: "MRXSPM" EXACT [] xref: EFO:0010261 xref: MIM:301025 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome [Term] id: DOID:0111844 name: X-linked intellectual developmental disorder 108 def: "A syndromic X-linked intellectual disability characterized by global developmental delay, delayed walking, and poor speech acquisition that has_material_basis_in hemizygous mutation in the SLC9A7 gene on chromosome Xp11.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30335141 "DO"] synonym: "MRX108" EXACT [] synonym: "X-linked mental retardation 108" EXACT [] xref: MIM:301024 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:0111845 name: Mullegama-Klein-Martinez syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has_material_basis_in heterozygous or hemizygous mutation in the STAG2 gene on chromosome Xq25. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28296084 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30765867 "DO"] synonym: "MKMS" EXACT [] synonym: "NEDXCF" EXACT [] synonym: "STAG2-RELATED CONDITION" BROAD [] synonym: "STAG2-related disorder" BROAD [] synonym: "X-linked neurodevelopmental disorder with craniofacial abnormalities" EXACT [] xref: MIM:301022 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: gthayman creation_date: 2019-04-12T07:15:14Z [Term] id: DOID:0111846 name: X-linked congenital hemolytic anemia def: "A congenital hemolytic anemia characterized by mild congenital hemolytic anemia without morphologic red cell abnormalities that has_material_basis_in hemizygous mutation in the ATP11C gene on chromosome Xq27.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26944472 "DO"] synonym: "HACXL" EXACT [] xref: MIM:301015 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:0111847 name: osteogenesis imperfecta type 19 def: "An osteogenesis imperfecta characterized by prenatal fractures and generalized osteopenia, with severe short stature in adulthood, variable scoliosis and pectal deformity, and marked anterior angulation of the tibia that has_material_basis_in hemizygous mutation in MBTPS2 on chromosome Xp22.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27380894 "DO"] synonym: "OI19" EXACT [] synonym: "osteogenesis imperfecta type XIX" EXACT [] xref: MIM:301014 xref: NCI:C164153 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0111848 name: osteogenesis imperfecta type 18 def: "An osteogenesis imperfecta characterized by congenital bowing of the long bones, wormian bones, blue sclerae, vertebral collapse, and multiple fractures in the first years of life that has_material_basis_in homozygous or compound heterozygous mutation in TENT5A on chromosome 6q14.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29358272 "DO"] synonym: "OI18" EXACT [] synonym: "osteogenesis imperfecta type XVIII" EXACT [] xref: MIM:617952 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta created_by: mtutaj creation_date: 2019-03-20T09:45:39Z [Term] id: DOID:0111849 name: osteogenesis imperfecta type 20 def: "An osteogenesis imperfecta characterized by osteopenia, skeletal deformity, and both healed and new fractures on radiography that has_material_basis_in homozygous or compound heterozygous mutation in MESD on chromosome 15q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31564437 "DO"] synonym: "OI20" EXACT [] synonym: "osteogenesis imperfecta type XX" EXACT [] xref: MIM:618644 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta [Term] id: DOID:0111850 name: primary ciliary dyskinesia 36 def: "A primary ciliary dyskinesia characterized by absence of outer dynein arms, defects in inner dynein arms, chronic airway disease and recurrent sinopulmonary infections, male infertility, and laterality defects in about half of patients that has_material_basis_in hemizygous mutation in the PIH1D3 gene on chromosome Xq22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28041644 "DO"] synonym: "CILD36" EXACT [] synonym: "primary ciliary dyskinesia 36, with or without situs inversus" EXACT [] synonym: "X-linked primary ciliary dyskinesia 36" EXACT [] xref: MIM:300991 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: slaulede creation_date: 2018-08-16T17:22:29Z [Term] id: DOID:0111851 name: primary ciliary dyskinesia 44 def: "A primary ciliary dyskinesia characterized by recurrent sinopulmonary infections, defective mucociliary clearance, short respiratory epithelial cell motile cilia with decreased motility, and absence of situs inversus that has_material_basis_in homozygous or compound heterozygous mutation in the NEK10 gene on chromosome 3p24.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31959991 "DO"] synonym: "CILD44" EXACT [] synonym: "primary ciliary dyskinesia 44 without situs inversus" EXACT [] xref: MIM:618781 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111852 name: primary ciliary dyskinesia 38 def: "A primary ciliary dyskinesia characterized by significant loss of both the inner and outer dynein arms, chronic airway disease, recurrent sinopulmonary infections, and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP300 gene on chromosome 11q22.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29727692 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29727693 "DO"] synonym: "CILD38" EXACT [] synonym: "primary ciliary dyskinesia 38 with or without situs inversus" EXACT [] xref: MIM:618063 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:0111853 name: primary ciliary dyskinesia 40 def: "A primary ciliary dyskinesia characterized by a subtle defect in the bend of the distal portion of the cilia, reduced ciliary clearance in-vitro, relatively mild respiratory phenotype and laterality defects in all reported patients that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH9 gene on chromosome 17p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30471717 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30471718 "DO"] synonym: "CILD40" EXACT [] synonym: "DNAH9-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 40 with or without situs inversus" EXACT [] xref: MIM:618300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia created_by: slaulede creation_date: 2018-06-18T17:13:56Z [Term] id: DOID:0111854 name: primary ciliary dyskinesia 39 def: "A primary ciliary dyskinesia characterized by ciliary kinetic defects in some patients, chronic sinopulmonary infections beginning soon after birth and laterality defects in about half of patients that has_material_basis_in homozygous or compound heterozygous mutation in the LRRC56 gene on chromosome 11p15.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30388400 "DO"] synonym: "CILD39" EXACT [] synonym: "LRRC56-RELATED CONDITION" EXACT [] synonym: "primary ciliary dyskinesia 39 with or without situs inversus" EXACT [] xref: MIM:618254 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111855 name: primary ciliary dyskinesia 42 def: "A primary ciliary dyskinesia characterized by severe reduction or absence of multiple motile cilia in respiratory epithelia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the MCIDAS gene on chromosome 5q11.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25048963 "DO"] synonym: "CILD42" EXACT [] synonym: "primary ciliary dyskinesia 42 without situs inversus" EXACT [] xref: MIM:618695 xref: NCI:C202610 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111856 name: primary ciliary dyskinesia 43 def: "A primary ciliary dyskinesia characterized by reduced generation of multiple motile cilia, onset of respiratory insufficiency soon after birth, recurrent upper and lower respiratory infections,variable infertility, and laterality defects in about half of patients that has_material_basis_in heterozygous mutation in FOXJ1 on chromosome 17q25.1. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31630787 "DO"] synonym: "CILD43" EXACT [] synonym: "primary ciliary dyskinesia 43 with or without situs inversus" EXACT [] xref: MIM:618699 xref: MONDO:0032874 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9562 ! primary ciliary dyskinesia created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:0111857 name: primary ciliary dyskinesia 45 def: "A primary ciliary dyskinesia characterized by absence of inner dynein arms with some axonemal disorganization in airway epithelial cells, absence of both inner and outer dynein arms in sperm from infertile male patients, recurrent sinopulmonary infections, defective mucociliary clearance, and absence of laterality defects that has_material_basis_in homozygous or compound heterozygous mutation in the TTC12 gene on chromosome 11q23.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/31978331 "DO"] synonym: "CILD45" EXACT [] synonym: "primary ciliary dyskinesia 45 without situs inversus" EXACT [] xref: MIM:618801 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia [Term] id: DOID:0111858 name: primary ciliary dyskinesia 41 def: "A primary ciliary dyskinesia characterized by hyperkinetic ciliary beat patterns, defects in ciliary orientation, chronic sinusitis, otitis media, and bronchiectasis that has_material_basis_in homozygous or compound heterozygous mutation in the GAS2L2 gene on chromosome 17q12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30665704 "DO"] synonym: "CILD41" EXACT [] synonym: "GAS2L2-RELATED CONDITION" EXACT [] xref: MIM:618449 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9562 ! primary ciliary dyskinesia created_by: rgd creation_date: 2015-07-14T00:00:00Z [Term] id: DOID:0111859 name: midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis def: "A syndrome characterized by midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis that has_material_basis_in hemizygous mutation in the AMMECR1 gene on chromosome Xq23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27811305/ "DO"] synonym: "AMMECR1-RELATED CONDITION" EXACT [] synonym: "MFHIEN" EXACT [] xref: MIM:300990 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:225 ! syndrome is_a: DOID:2373 ! hereditary elliptocytosis is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111860 name: AMME complex alt_id: MIM:300194 def: "A syndrome characterized by Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis that has_material_basis_in hemizygous deletion of multiple genes including COL4A5, FACL4 and AMMECR1 on chromosome Xq22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12011158/ "DO"] synonym: "Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome" EXACT [] synonym: "Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis" EXACT [] synonym: "AMME syndrome" EXACT [] synonym: "ATS-MR" EXACT [] synonym: "chromosome Xq22.3 telomeric deletion syndrome" EXACT [] xref: MESH:C564570 xref: ORDO:86818 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10983 ! Alport syndrome is_a: DOID:2373 ! hereditary elliptocytosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111861 name: Meester-Loeys syndrome def: "A syndrome characterized by early-onset aortic aneurysm and dissection in hemizygous males and variable presentation from unaffected to fatal aortic dissection in heterozygous females, as well as facial dysmorphism, connective tissue anomalies, and features of Loeys-Dietz syndrome that has_material_basis_in mutation in BGN on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27632686/ "DO"] synonym: "BGN-RELATED CONDITION" BROAD [] synonym: "MRLS" EXACT [] xref: MIM:300989 xref: NCI:C187989 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2019-03-19T15:36:14Z [Term] id: DOID:0111862 name: congenital bilateral absence of vas deferens def: "A male infertility that is characterized by bilateral absence of the vas deferens resulting in obstroctive azoospermia and male infertility. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27476656/ "DO"] synonym: "absence of vas deferens" EXACT [] synonym: "absent vasa" EXACT [] synonym: "CAVD" EXACT [] synonym: "CBAVD" EXACT [] synonym: "congenital absence of vas deferens" EXACT [] synonym: "Congenital Aplasia of Vas Deferens" EXACT [] synonym: "congenital bilateral absence of the vas deferens" EXACT [] synonym: "congenital bilateral agenesis of vas deferens" EXACT [] synonym: "congenital bilateral aplasia of the vas deferens" EXACT [] synonym: "congenital bilateral aplasia of vas deferens" EXACT [] xref: MESH:C535984 xref: MIM:PS277180 xref: NCI:C129303 xref: ORDO:48 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080015 ! physical disorder is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2019-09-10T09:58:44Z [Term] id: DOID:0111863 name: X-linked congenital bilateral absence of vas deferens def: "A congenital bilateral absence of vas deferens that has_material_basis_in mutation in the ADGRG2 gene on chromosome Xp22.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27476656/ "DO"] synonym: "CBAVDX" EXACT [] synonym: "congenital bilateral aplasia of vas deferens, X-linked" EXACT [] xref: MIM:300985 is_a: DOID:0111862 ! congenital bilateral absence of vas deferens [Term] id: DOID:0111864 name: autosomal recessive congenital bilateral absence of vas deferens def: "A congenital bilateral absence of vas deferens that has_material_basis_in homozygous or compound heterozygous mutation in the CFTR gene on chromosome 7q31.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7529962/ "DO"] synonym: "congenital bilateral aplasia of vas deferens from CFTR mutation" EXACT [] xref: MIM:277180 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111862 ! congenital bilateral absence of vas deferens created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:0111865 name: MEND syndrome def: "A lipid metabolism disorder characterized by a defect in sterol biosynthesis that results in variable features including intellectual disability, short stature, scoliosis, digital abnormalities, cataracts, and dermatologic abnormalities that has_material_basis_in hemizygous mutation in EBP on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22229330/ "DO", https://pubmed.ncbi.nlm.nih.gov/24700572/ "DO"] synonym: "male EBP disorder with neurological defects" EXACT [] synonym: "male EBP disorder with neurologic defects" EXACT [] synonym: "MEND" EXACT [] xref: MIM:300960 xref: ORDO:401973 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:225 ! syndrome is_a: DOID:3146 ! lipid metabolism disorder created_by: gthayman creation_date: 2019-04-10T00:00:00Z [Term] id: DOID:0111866 name: trichothiodystrophy def: "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO", https://pubmed.ncbi.nlm.nih.gov/18603627/ "DO"] synonym: "IBIDS syndrome" EXACT [] synonym: "IBIDS syndromes" EXACT [] synonym: "ichthyosiform erythroderma with hair abnormality and mental and growth retardation" EXACT [] synonym: "Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature" EXACT [] synonym: "PIBIDS Syndrome" EXACT [] synonym: "PIBIDS syndromes" EXACT [] synonym: "Pollitt syndrome" EXACT [] synonym: "Trichothiodystrophies" EXACT [] synonym: "trichothiodystrophy syndrome" EXACT [] synonym: "trichothiodystrophy syndromes" EXACT [] synonym: "trichothiodystrophy with congenital ichtyosis" EXACT [] synonym: "TTD" EXACT [] xref: MESH:D054463 xref: MIM:PS601675 xref: ORDO:33364 is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111867 name: nonphotosensitive trichothiodystrophy def: "A trichothiodystrophy characterized by absence of extreme sensitivity to UV radiation. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO", https://pubmed.ncbi.nlm.nih.gov/18603627/ "DO"] synonym: "ABHS" EXACT [] synonym: "Amish Brittle Hair Brain Syndrome" EXACT [] synonym: "Amish Brittle Hair Syndrome" EXACT [] synonym: "BIDS" EXACT [] synonym: "BIDS BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME" EXACT [] synonym: "BIDS Syndrome" EXACT [] synonym: "BIDS Syndromes" EXACT [] synonym: "BRITTLE HAIR-IMPAIRED INTELLECT-DECREASED FERTILITY-SHORT STATURE SYNDROME" EXACT [] synonym: "Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome" EXACT [] synonym: "Hair Brain Syndrome" EXACT [] synonym: "Hair-Brain Syndromes" EXACT [] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111866 ! trichothiodystrophy [Term] id: DOID:0111868 name: nonphotosensitive trichothiodystrophy 5 def: "A nonphotosensitive trichothiodystrophy characterized by sparse and brittle hair, facial dysmorphism, global developmental delays, growth deficiency, hypogonadism, and structural brain abnormalities that has_material_basis_in hemizygous mutation in the RNF113A gene on chromosome Xq24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25612912/ "DO", https://pubmed.ncbi.nlm.nih.gov/31880405/ "DO"] synonym: "RNF113A-RELATED CONDITION" EXACT [] synonym: "TTD5" EXACT [] xref: MIM:300953 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111869 name: photosensitive trichothiodystrophy 2 def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC3 gene on chromosome 2q14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9012405/ "DO"] synonym: "TTD2" EXACT [] xref: MIM:616390 xref: MONDO:0014615 xref: NCI:C173103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2960 ! photosensitive trichothiodystrophy [Term] id: DOID:0111870 name: nonphotosensitive trichothiodystrophy 7 def: "A nonphotosensitive trichothiodystrophy characterized by cysteine- and threonine-deficient hair that displays a diagnostic alternating light and dark 'tiger-tail' banding pattern under polarization microscopy, as well as ichthyosis that has_material_basis_in homozygous or compound heterozygous mutation in the TARS1 gene on chromosome 5p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31374204/ "DO"] synonym: "TTD7" EXACT [] xref: MIM:618546 xref: NCI:C173102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111871 name: photosensitive trichothiodystrophy 3 def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2H5 gene on chromosome 6q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15220921/ "DO"] synonym: "trichothiodystrophy, complementation group A" EXACT [] synonym: "TTD3" EXACT [] synonym: "TTDA" EXACT [] xref: MIM:616395 xref: NCI:C173099 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2960 ! photosensitive trichothiodystrophy [Term] id: DOID:0111872 name: nonphotosensitive trichothiodystrophy 6 def: "A nonphotosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the GTF2E2 gene on chromosome 8p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26996949/ "DO"] synonym: "trichothiodystrophy-6" EXACT [] synonym: "TTD6" EXACT [] xref: MIM:616943 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111873 name: photosensitive trichothiodystrophy 1 def: "A photosensitive trichothiodystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the ERCC2 gene on chromosome 19q13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9195225/ "DO"] synonym: "ICHTHYOSIFORM ERYTHRODERMA WITH HAIR ABNORMALITY AND MENTAL AND GROWTH RETARDATION" EXACT [] synonym: "trichothiodystrophy type 1" EXACT [] synonym: "TTD1" EXACT [] synonym: "TTDP" EXACT [] xref: MESH:C564734 xref: MIM:601675 xref: MONDO:0011125 xref: NCI:C156433 is_a: DOID:0050427 ! xeroderma pigmentosum is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2960 ! photosensitive trichothiodystrophy is_a: DOID:4123 ! nail disease is_a: DOID:421 ! hair disease is_a: DOID:9005622 ! Congenital Ichthyosis with Trichothiodystrophy [Term] id: DOID:0111874 name: Sabinas brittle hair syndrome alt_id: MIM:211390 def: "A nonphotosensitive trichothiodystrophy characterized by congenital hypotrichosis, mild to moderate onychodysplasia, varying intellectual disability, and sterility. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7325159/ "DO"] synonym: "brittle hair and mental deficit" EXACT [] synonym: "brittle hair-mental deficiency syndrome" EXACT [] synonym: "Sabinas syndrome" EXACT [] synonym: "trichothiodystrophy type B" EXACT [] xref: MESH:C536320 xref: ORDO:3123 is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy [Term] id: DOID:0111875 name: MLS syndrome def: "A syndrome characterized by linear skin defects and various other congenital anomalies. The classical diagnosis consisted of unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects but patients with a molecular diagnosis of MLS syndrome may not display eye abnormalities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20301767/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK7041/ "DO"] synonym: "linear skin defects with multiple congenital anomalies" EXACT [] synonym: "microphthalmia with linear skin defects" EXACT [] synonym: "microphthalmia with linear skin defects syndrome" EXACT [] synonym: "MLS" EXACT [] xref: MIM:PS309801 is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:0111876 name: linear skin defects with multiple congenital anomalies 3 def: "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, cardiomyopathy, and various other congenital anomalies that has_material_basis_in heterozygous mutation in the NDUFB11 gene on chromosome Xp11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25772934/ "DO"] synonym: "linear skin defects with cardiomyopathy and other congenital anomalies" EXACT [] synonym: "LSDMCA3" EXACT [] xref: MIM:300952 xref: MONDO:0010494 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111875 ! MLS syndrome [Term] id: DOID:0111877 name: linear skin defects with multiple congenital anomalies 2 def: "A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23122588/ "DO", https://pubmed.ncbi.nlm.nih.gov/9747372/ "DO"] synonym: "APLCC" EXACT [] synonym: "LSDMCA2" EXACT [] synonym: "reticulolinear aplasia cutis congenita with microcephaly, facial dysmorphism, and other congenital anomalies" EXACT [] xref: MIM:300887 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0111875 ! MLS syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:0111878 name: Diamond-Blackfan anemia 7 alt_id: MIM:612562 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL11 gene on chromosome 1p36.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19061985/ "DO"] synonym: "DBA7" EXACT [] synonym: "RPL11-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567254 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: mtutaj creation_date: 2019-06-25T13:20:08Z [Term] id: DOID:0111879 name: Diamond-Blackfan anemia 6 alt_id: MIM:612561 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL5 gene on chromosome 1p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19061985/ "DO"] synonym: "Aase Smith Syndrome 2" EXACT [] synonym: "Aase-Smith syndrome II" EXACT [] synonym: "anemia and triphalangeal thumbs" EXACT [] synonym: "congenital anemia and triphalangeal thumbs" EXACT [] synonym: "DBA6" EXACT [] synonym: "hypoplastic anemia-triphalangeal thumbs, Aase-Smith type" EXACT [] synonym: "RPL5-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C538442 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111880 name: Diamond-Blackfan anemia 17 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS27 gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25424902/ "DO"] synonym: "DBA17" EXACT [] synonym: "RPS27-related Diamond-Blackfan anemia" EXACT [] xref: MIM:617409 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111881 name: Diamond-Blackfan anemia 8 alt_id: MIM:612563 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS7 gene on chromosome 2p25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19061985/ "DO"] synonym: "DBA8" EXACT [] synonym: "RPS7-RELATED CONDITION" EXACT [] synonym: "RPS7-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567253 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: slaulede creation_date: 2018-09-11T15:16:36Z [Term] id: DOID:0111882 name: Diamond-Blackfan anemia 12 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL15 gene on chromosome 3p24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23812780/ "DO"] synonym: "DBA12" EXACT [] synonym: "RPL15-RELATED CONDITION" EXACT [] synonym: "RPL15-related Diamond-Blackfan anemia" EXACT [] xref: MIM:615550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: mtutaj creation_date: 2019-10-28T10:44:39Z [Term] id: DOID:0111883 name: Diamond-Blackfan anemia 5 alt_id: MIM:612528 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35A gene on chromosome 3q29. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18535205/ "DO"] synonym: "DBA5" EXACT [] synonym: "RPL35A-RELATED CONDITION" EXACT [] synonym: "RPL35A-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567280 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: slaulede creation_date: 2018-04-26T10:14:05Z [Term] id: DOID:0111884 name: Diamond-Blackfan anemia 9 alt_id: MIM:613308 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS10 gene on chromosome 6p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20116044/ "DO"] synonym: "DBA9" EXACT [] synonym: "RPS10-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567650 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111885 name: Diamond-Blackfan anemia 2 alt_id: MIM:606129 def: "A Diamond-Blackfan anemia that has_material_basis_in mutation in a region of chromosome 8p23.3-p22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11264183/ "DO"] synonym: "DBA2" EXACT [] xref: MESH:C536130 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111886 name: Diamond-Blackfan anemia 19 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL35 gene on chromosome 9q33.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28280134/ "DO"] synonym: "DBA19" EXACT [] synonym: "RPL35-related Diamond-Blackfan anemia" EXACT [] xref: MIM:618312 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111887 name: Diamond-Blackfan anemia 3 alt_id: MIM:610629 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS24 gene on chromosome 10q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17186470/ "DO"] synonym: "DBA3" EXACT [] synonym: "RPS24-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C536355 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: mtutaj creation_date: 2019-06-25T13:47:13Z [Term] id: DOID:0111888 name: Diamond-Blackfan anemia 10 alt_id: MIM:613309 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS26 gene on chromosome 12q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20116044/ "DO"] synonym: "DBA10" EXACT [] synonym: "RPS26-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567649 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111889 name: Diamond-Blackfan anemia 13 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS29 gene on chromosome 14q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24829207/ "DO"] synonym: "DBA13" EXACT [] synonym: "RPS29-related Diamond-Blackfan anemia" EXACT [] xref: MIM:615909 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111890 name: Diamond-Blackfan anemia 4 alt_id: MIM:612527 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS17 gene on chromosome 15q25.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17647292/ "DO"] synonym: "DBA4" EXACT [] synonym: "RPS17-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567281 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111891 name: Diamond-Blackfan anemia 20 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS15A gene on chromosome 16p12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27909223/ "DO"] synonym: "DBA20" EXACT [] synonym: "RPS15A-related Diamond-Blackfan anemia" EXACT [] xref: MIM:618313 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111892 name: Diamond-Blackfan anemia 11 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL26 gene on chromosome 17p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22431104/ "DO"] synonym: "DBA11" EXACT [] synonym: "RPL26-related Diamond-Blackfan anemia" EXACT [] xref: MIM:614900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111893 name: Diamond-Blackfan anemia 16 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL27 gene on chromosome 17q21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25424902/ "DO"] synonym: "DBA16" EXACT [] synonym: "RPL27-related Diamond-Blackfan anemia" EXACT [] xref: MIM:617408 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: mtutaj creation_date: 2020-03-06T11:21:22Z [Term] id: DOID:0111894 name: Diamond-Blackfan anemia 15 with mandibulofacial dysostosis def: "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia and mandibulofacial dysostosis (micrognathia, downslanting palpebral fissures, submucosal cleft palate or bifid uvula, and malar hypoplasia) that has_material_basis_in heterozygous mutation in the RPS28 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24942156/ "DO"] synonym: "DBA15" EXACT [] xref: MIM:606164 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0111895 name: Diamond-Blackfan anemia 1 alt_id: MIM:105650 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPS19 gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9988267/ "DO"] synonym: "DBA1" EXACT [] synonym: "RPS19-related Diamond-Blackfan anemia" EXACT [] xref: MESH:C567302 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: rgd creation_date: 2016-03-11T00:00:00Z [Term] id: DOID:0111896 name: Diamond-Blackfan anemia 18 def: "A Diamond-Blackfan anemia that has_material_basis_in heterozygous mutation in the RPL18 gene on chromosome 19q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28280134/ "DO"] synonym: "DBA18" EXACT [] synonym: "RPL18-related Diamond-Blackfan anemia" EXACT [] xref: MIM:618310 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1339 ! Diamond-Blackfan anemia [Term] id: DOID:0111897 name: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis def: "A Diamond-Blackfan anemia characterized by Diamond-Blackfan anemia, bilateral microtia, and cleft palate that has_material_basis_in hemizygous mutation in the TSR2 gene on chromosome Xp11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11424144/ "DO", https://pubmed.ncbi.nlm.nih.gov/24942156/ "DO"] synonym: "DBA14" EXACT [] xref: MIM:300946 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1339 ! Diamond-Blackfan anemia is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:0111898 name: CK syndrome alt_id: DOID:9002836 def: "A lipid metabolism disorder characterized by increased methylsterol levels in cells and cerebrospinal fluid, mild to severe cognitive impairment, seizures, microcephaly, cerebral cortical malformations, dysmorphic facial features, and thin body habitus that has_material_basis_in hemizygous mutation in the NSDHL gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19377476/ "DO", https://pubmed.ncbi.nlm.nih.gov/21129721/ "DO"] synonym: "X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome" EXACT [] synonym: "X-linked mental retardation with thin body habitus and cortical malformation" EXACT [] xref: MIM:300831 xref: ORDO:251383 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9005768 ! Thinness is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:0111899 name: X-linked thrombophilia due to factor IX defect alt_id: MIM:300807 def: "A thrombophilia characterized by normal levels of F9 antigen, but very high levels of F9 activity that has_material_basis_in hemizygous gain of function mutation in F9 on chromosome Xq27.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19846852/ "DO"] synonym: "protection against deep venous thrombosis" NARROW [] synonym: "THPH8" EXACT [] xref: MESH:C567581 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111900 name: autosomal dominant thrombophilia due to protein S deficiency alt_id: MIM:612336 def: "A protein S deficiency characterized by reduced serum protein S levels and recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROS1 gene on chromosome 3q11.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/6239102/ "DO", https://pubmed.ncbi.nlm.nih.gov/7545463/ "DO", https://pubmed.ncbi.nlm.nih.gov/7780139/ "DO"] synonym: "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY" BROAD [] synonym: "hereditary thrombophilia due to protein S deficiency, autosomal dominant" EXACT [] synonym: "PROS1-RELATED CONDITION" BROAD [] synonym: "REDUCED PROTEIN S ACTIVITY" BROAD [] synonym: "THPH5" EXACT [] xref: MESH:C567347 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2451 ! protein S deficiency [Term] id: DOID:0111901 name: heparin cofactor II deficiency def: "A thrombophilia characterized by increased risk of thromboembolism that has_material_basis_in heterozygous mutation in the HCF2 gene on chromosome 22q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2647747/ "DO", https://pubmed.ncbi.nlm.nih.gov/8562924/ "DO"] synonym: "HCF 2 deficiency" EXACT [] synonym: "HCF2 deficiency" EXACT [] synonym: "HCF II deficiency" EXACT [] synonym: "susceptibility to thrombophilia due to heparin cofactor II deficiency" EXACT [] synonym: "THPH10" EXACT [] synonym: "thrombophilia due to heparin cofactor II deficiency" EXACT [] synonym: "THROMBOTIC STROKE" BROAD [] xref: MESH:C562865 xref: MIM:612356 xref: MONDO:0012876 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060903 ! thrombosis is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111902 name: thrombophilia due to activated protein C resistance alt_id: MESH:C566056 alt_id: MIM:188055 def: "A thrombophilia characterized by resistance of F5 to cleavage and inactivation and increased tendency for thrombosis that has_material_basis_in heterozygous mutation in F5 on chromosome 1q24.2. (DO)" [https://ghr.nlm.nih.gov/condition/factor-v-leiden-thrombophilia "DO", https://pubmed.ncbi.nlm.nih.gov/8164741/ "DO", https://pubmed.ncbi.nlm.nih.gov/8430067/ "DO", https://pubmed.ncbi.nlm.nih.gov/9454742/ "DO"] synonym: "activated protein C resistance" EXACT [] synonym: "APC resistance" EXACT [] synonym: "Apc Resistance, Leiden Type" EXACT [] synonym: "Factor V Leiden Thrombophilia" EXACT [] synonym: "Hereditary Resistance To Activated Protein C" EXACT [] synonym: "PCCF DEFICIENCY" EXACT [] synonym: "PROC COFACTOR DEFICIENCY" EXACT [] synonym: "Protein C Cofactor Deficiency" EXACT [] synonym: "THPH2" EXACT [] synonym: "Thrombophilia due to Deficiency of Activated Protein C Cofactor" EXACT [] synonym: "thrombophilia due to factor V Leiden" EXACT [] synonym: "thrombophilia V" EXACT [] xref: MESH:D020016 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:0111903 name: thrombophilia due to HRG deficiency alt_id: MIM:613116 def: "A thrombophilia characterized by decreased histidine-rich glycoprotein (HRG) plasma levels and a tendency to develop thrombosis that has_material_basis_in heterozygous mutation in HRG on chromosome 3q27.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8236132/ "DO", https://pubmed.ncbi.nlm.nih.gov/9414276/ "DO"] synonym: "hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency" EXACT [] synonym: "hereditary thrombophilia due to congenital HRG deficiency" EXACT [] synonym: "THPH11" EXACT [] synonym: "thrombophilia due to elevated histidine-rich glycoprotein" EXACT [] synonym: "thrombophilia due to histidine-rich glycoprotein deficiency" EXACT [] xref: MESH:C567737 xref: ORDO:217467 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111904 name: autosomal recessive thrombophilia due to protein C deficiency alt_id: MIM:612304 def: "A protein C deficiency characterized by typically early onset of venous thrombosis although in some cases it may have a milder, later onset that has_material_basis_in homozygous or compound heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10942114/ "DO", https://pubmed.ncbi.nlm.nih.gov/6139528/ "DO"] synonym: "Hereditary Thrombophilia, due to Protein C Deficiency, Autosomal Recessive" EXACT [] synonym: "PROC deficiency, autosomal recessive" EXACT [] synonym: "protein C deficiency, autosomal recessive" EXACT [] synonym: "THPH4" EXACT [] xref: MESH:C567353 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9006363 ! Congenital Thrombotic Disease, due to Protein C Deficiency [Term] id: DOID:0111905 name: autosomal recessive thrombophilia due to protein S deficiency alt_id: MIM:614514 def: "A protein S deficiency characterized by thrombosis and secondary hemorrhage usually beginning in early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the PROS1 gene on chromosome 3q11.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10063989/ "DO", https://pubmed.ncbi.nlm.nih.gov/20484936/ "DO"] synonym: "autosomal recessive thrombophilia due to congenital protein S deficiency" EXACT [] synonym: "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN S DEFICIENCY" BROAD [] synonym: "Hereditary Thrombophilia, due to Protein S Deficiency, Autosomal Recessive" EXACT [] synonym: "PROS1-RELATED CONDITION" BROAD [] synonym: "reduced protein S activity" BROAD [] synonym: "severe hereditary thrombophilia due to congenital protein S deficiency" EXACT [] synonym: "THPH6" EXACT [] xref: MESH:C567348 xref: ORDO:743 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2451 ! protein S deficiency created_by: mtutaj creation_date: 2019-02-13T13:10:28Z [Term] id: DOID:0111906 name: thrombophilia due to decreased release of PLAT alt_id: MIM:612348 def: "A thrombophilia characterized by impaired capacity for release of fibrinolytic activity from the blood vessel walls. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12643326/ "DO", https://pubmed.ncbi.nlm.nih.gov/665314/ "DO"] synonym: "ACTIVATOR" NARROW [] synonym: "familial hyperfibrinolysis due to increased release of tissue plasminogen activator" EXACT [] synonym: "Familial Thrombophilia due to Decreased Release of Tissue Plasminogen Activator" EXACT [] synonym: "THPH9" EXACT [] synonym: "THPH9 HYPERFIBRINOLYSIS, FAMILIAL, DUE TO INCREASED RELEASE OF TISSUE PLASMINOGEN" EXACT [] xref: MESH:C567341 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:0111907 name: thrombophilia due to thrombin defect def: "A thrombophilia characterized by recurrent thrombophilia that has_material_basis_in heterozygous mutation in F2 on chromosome 11p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11570053/ "DO", https://pubmed.ncbi.nlm.nih.gov/22716977/ "DO"] synonym: "prothrombin-related thrombophilia" EXACT [] synonym: "THPH1" EXACT [] synonym: "THROMBOPHILIA DUE TO FACTOR 2 DEFECT" EXACT [] xref: GARD:10815 xref: MIM:188050 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia created_by: slaulede creation_date: 2018-09-11T14:11:44Z [Term] id: DOID:0111908 name: thrombophilia due to thrombomodulin defect alt_id: MIM:614486 def: "A thrombophilia characterized by increased risk of developing arterial but not venous thrombosis that has_material_basis_in mutation in the THBD gene on chromosome 20p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22036808/ "DO"] synonym: "THBD-related bleeding disorder" EXACT [] synonym: "THBD-related coagulopathy" EXACT [] synonym: "THPH12" EXACT [] synonym: "thrombomodulin-related bleeding disorder" EXACT [] synonym: "thrombomodulin-related coagulopathy" EXACT [] xref: MESH:C566057 xref: ORDO:436169 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2452 ! thrombophilia created_by: mtutaj creation_date: 2019-03-21T13:56:44Z [Term] id: DOID:0111909 name: autosomal dominant thrombophilia due to protein C deficiency alt_id: MIM:176860 def: "A thrombophilia characterized by reduced serum levels or impaired activity of PROC and in some patients recurrent venous thrombosis that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10942114/ "DO", https://pubmed.ncbi.nlm.nih.gov/2437584/ "DO", https://pubmed.ncbi.nlm.nih.gov/6547008/ "DO"] synonym: "HEREDITARY THROMBOPHILIA DUE TO CONGENITAL PROTEIN C DEFICIENCY" EXACT [] synonym: "Hereditary Thrombophilia, due To Protein C Deficiency, Autosomal Dominant" EXACT [] synonym: "PROC Deficiency, Autosomal Dominant" EXACT [] synonym: "PROC DEFICIENCY, AUTOSOMAL DOMINANT PROTEIN C DEFICIENCY, ACQUIRED" RELATED [] synonym: "protein C deficiency, autosomal dominant" EXACT [] synonym: "THPH3" EXACT [] xref: MESH:C567163 is_a: DOID:9006363 ! Congenital Thrombotic Disease, due to Protein C Deficiency [Term] id: DOID:0111910 name: spermatogenic failure def: "A male infertility characterized by disruption of the process of sperm development from diploid cells into mature haploid spermatozoa. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30656449/ "DO"] synonym: "SPGF" EXACT [] xref: EFO:0000279 xref: MIM:PS258150 is_a: DOID:12336 ! male infertility created_by: rgd creation_date: 2020-07-23T00:00:00Z [Term] id: DOID:0111911 name: spermatogenic failure 34 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the FSIP2 gene on chromosome 2q32.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30137358/ "DO"] synonym: "SPGF34" EXACT [] xref: MIM:618153 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:0111912 name: spermatogenic failure 41 def: "A spermatogenic failure characterized by oligozoospermia and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP70 gene on chromosome 10q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31621862/ "DO"] synonym: "SPGF41" EXACT [] xref: MIM:618670 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111913 name: spermatogenic failure 30 def: "A spermatogenic failure characterized by nonobstructive azoospermia or cryptozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TDRD9 gene on chromosome 14q32.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28536242/ "DO"] synonym: "SPGF30" EXACT [] xref: MIM:618110 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111914 name: spermatogenic failure 35 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely impaired sperm motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the QRICH2 gene on chromosome 17q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30683861/ "DO"] synonym: "SPGF35" EXACT [] xref: MIM:618341 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111915 name: spermatogenic failure 33 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in immotile spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the WDR66 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30122540/ "DO"] synonym: "MALE INFERTILITY DUE TO SPERM MOTILITY DISORDER" EXACT [] synonym: "MALE INFERTILITY WITH SPERMATOGENESIS DISORDER DUE TO SINGLE GENE MUTATION" EXACT [] synonym: "male infertility with teratozoospermia due to single gene mutation" BROAD [] synonym: "non-syndromic male infertility due to sperm motility disorder" EXACT [] synonym: "SPGF33" EXACT [] xref: MIM:618152 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111916 name: spermatogenic failure 28 def: "A spermatogenic failure characterized by nonobstructive azoospermia and a Sertoli cell-only phenotype in testes that has_material_basis_in homozygous or compound heterozygous mutation in the FANCM gene on chromosome 14q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30075111/ "DO"] synonym: "SPGF28" EXACT [] xref: MIM:618086 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2019-03-15T14:05:31Z [Term] id: DOID:0111917 name: spermatogenic failure 43 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in absence of forward motility in spermatozoa and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the SPEF2 gene on chromosome 5p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31048344/ "DO", https://pubmed.ncbi.nlm.nih.gov/31151990/ "DO"] synonym: "SPGF43" EXACT [] xref: MIM:618751 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111918 name: spermatogenic failure 40 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severely reduced to absent sperm motility and abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP65 gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31413122/ "DO"] synonym: "SPGF40" EXACT [] xref: MIM:618664 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111919 name: spermatogenic failure 38 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in infertility and asthenoteratozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the ARMC2 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30686508/ "DO"] synonym: "MALE INFERTILITY WITH TERATOZOOSPERMIA DUE TO SINGLE GENE MUTATION" BROAD [] synonym: "SPERM TAIL ANOMALY" BROAD [] synonym: "SPGF38" EXACT [] xref: MIM:618433 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111920 name: spermatogenic failure 25 def: "A spermatogenic failure characterized by maturation arrest at the primary spermatocyte stage resulting in severe oligozoospermia or azoospermia, small testes, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TEX15 gene on chromosome 8p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26199321/ "DO"] synonym: "SPGF25" EXACT [] xref: MIM:617960 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: slaulede creation_date: 2019-03-19T15:24:54Z [Term] id: DOID:0111921 name: spermatogenic failure 36 def: "A spermatogenic failure characterized by spermatozoa showing anomalies of the head, acrosome, and nucleus of the sperm resulting in reduced fertility that has_material_basis_in heterozygous mutation in the PPP2R3C gene on chromosome 14q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30893644/ "DO"] synonym: "SPGF36" EXACT [] xref: MIM:618420 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111922 name: spermatogenic failure 31 def: "A male failure due to acephalic spermatozoa that is characterized by oligozoospermia with a high proportion of acephalic sperm that has_material_basis_in homozygous or compound heterozygous mutation in the PMFBP1 gene on chromosome 16q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30032984/ "DO"] synonym: "CYBA Deficiency" EXACT [] synonym: "SPGF31" EXACT [] xref: MIM:618112 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa created_by: rgd creation_date: 2017-03-28T00:00:00Z [Term] id: DOID:0111923 name: spermatogenic failure 42 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella resulting in severly impaired sperm progressive motility and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC29 gene on chromosome 4q31.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31735292/ "DO", https://pubmed.ncbi.nlm.nih.gov/31735294/ "DO"] synonym: "SPGF42" EXACT [] xref: MIM:618745 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2019-09-03T14:40:00Z [Term] id: DOID:0111924 name: spermatogenic failure 26 def: "A spermatogenic failure due to acephalic spermatozoa that is characterized by acephalic spermatozoa due to breakage at the midpiece of the sperm that has_material_basis_in homozygous or compound heterozygous mutation in the TSGA10 gene on chromosome 2q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28905369/ "DO"] synonym: "SPGF26" EXACT [] xref: MIM:617961 xref: MONDO:0054730 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112311 ! male infertility due to acephalic spermatozoa [Term] id: DOID:0111925 name: spermatogenic failure 32 def: "A spermatogenic failure characterized by nonobstructive azoospermia, absence of spermatogenic cells and a Sertoli cell-only phenotype in testes that has_material_basis_in heterozygous mutation in the SOHLH1 gene on chromosome 9q34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20506135/ "DO"] synonym: "SPGF32" EXACT [] xref: MIM:618115 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111926 name: spermatogenic failure 39 def: "A spermatogenic failure characterized by multiple morphologic anomalies of the sperm flagellum, lack of the outer dynein arms in the flagella, and asthenozoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH17 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31178125/ "DO"] synonym: "SPGF39" EXACT [] xref: MIM:618643 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111927 name: spermatogenic failure 37 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, asthenoteratozoospermia, and infertility that has_material_basis_in homozygous or compound heterozygous mutation in the TTC21A gene on chromosome 3p22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30929735/ "DO"] synonym: "SPGF37" EXACT [] xref: MIM:618429 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111928 name: spermatogenic failure 27 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella, loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in AK7 on chromosome 14q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29365104/ "DO"] synonym: "SPGF27" EXACT [] xref: MIM:617965 xref: MONDO:0054731 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: rgd creation_date: 2016-04-13T17:29:34Z [Term] id: DOID:0111929 name: spermatogenic failure 24 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella, malformed sperm heads, and very low sperm counts that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP69 gene on chromosome 7q21.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29606301/ "DO"] synonym: "SPGF24" EXACT [] xref: MIM:617959 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure [Term] id: DOID:0111930 name: spermatogenic failure 29 def: "A spermatogenic failure characterized by nonobstructive azoospermia or oligozoospermia, immotile sperm, and sperm acrosome and head-neck junction abnormalities that has_material_basis_in homozygous or compound geterozygous mutation in the SPINK2 gene on chromosome 4q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28554943/ "DO"] synonym: "SPGF29" EXACT [] xref: MIM:618091 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: slaulede creation_date: 2018-09-14T00:00:00Z [Term] id: DOID:0111931 name: syndactyly-telecanthus-anogenital and renal malformations syndrome alt_id: MIM:300707 def: "A syndrome characterized by toe syndactyly, telecanthus and anogenital and renal malformations that has_material_basis_in heterozygous mutation in the FAM58A gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18297069/ "DO", https://pubmed.ncbi.nlm.nih.gov/8818947/ "DO"] synonym: "STAR" EXACT [] synonym: "STAR Syndrome" EXACT [] synonym: "Syndactyly with Renal and Anogenital Malformations" EXACT [] synonym: "toe syndactyly, telecanthus, and anogenital and renal malformations" EXACT [] xref: GARD:10295 xref: MESH:C567475 xref: ORDO:140952 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9003133 ! Hypertelorism created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111932 name: severe congenital encephalopathy due to MECP2 mutation alt_id: MIM:300673 def: "A brain disease characterized by severe neonatal encephalopathy, developmental delay, and microcephaly that has_material_basis_in hemizygous mutation in the MECP2 gene on chromosome Xq28. (DO)" [https://ghr.nlm.nih.gov/condition/mecp2-related-severe-neonatal-encephalopathy "DO", https://pubmed.ncbi.nlm.nih.gov/12615169/ "DO"] synonym: "MECP2-related severe neonatal encephalopathy" EXACT [] synonym: "neonatal severe encephalopathy" EXACT [] synonym: "neonatal severe encephalopathy due to MECP2 mutation" EXACT [] synonym: "neonatal severe encephalopathy due to MECP2 mutations" EXACT [] synonym: "severe neonatal-onset encephalopathy with microcephaly" EXACT [] xref: MESH:C566878 xref: NCI:C132293 xref: ORDO:209370 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders created_by: rgd creation_date: 2017-04-04T00:00:00Z [Term] id: DOID:0111933 name: phosphoglycerate kinase 1 deficiency alt_id: MIM:300653 def: "A glucose metabolism disease characterized by impaired ability to break down glucose resulting in the variable presentation of hemolytic anemia, myopathy, and neurologic anomalies that has_material_basis_in hemizygous or homozygous mutation in the PGK1 gene on chromosome Xq21.1. (DO)" [https://ghr.nlm.nih.gov/condition/phosphoglycerate-kinase-deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/16567715/ "DO", https://pubmed.ncbi.nlm.nih.gov/4230542/ "DO"] synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "glycogen storage disease due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT [] synonym: "PGK1 Deficiency" EXACT [] synonym: "PGK1-RELATED CONDITION" EXACT [] synonym: "PGK1-RELATED DISORDER" EXACT [] synonym: "PGK Deficiency" EXACT [] synonym: "phosphoglycerate kinase deficiency" EXACT [] xref: GARD:7389 xref: MESH:C567067 xref: NCI:C126738 xref: ORDO:713 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:4194 ! glucose metabolism disease is_a: DOID:655 ! inherited metabolic disorder created_by: gthayman creation_date: 2019-05-29T11:57:07Z [Term] id: DOID:0111934 name: immunodeficiency 38 def: "A primary immunodeficiency disease characterized by development of severe clinical disease upon infection with weakly virulent mycobacteria and intracranial calcification that has_material_basis_in homozygous or compound heterozygous mutation in the ISG15 gene on chromosome 1p36.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22859821/ "DO", https://pubmed.ncbi.nlm.nih.gov/25307056/ "DO"] synonym: "autosomal recessive ISG15 deficiency" EXACT [] synonym: "IMD38" EXACT [] synonym: "immunodeficiency 38, mycobacteriosis, autosomal recessive" EXACT [] synonym: "immunodeficiency 38 with basal ganglia calcification" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency" EXACT [] xref: MIM:616126 xref: ORDO:319563 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060230 ! basal ganglia calcification is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111935 name: immunodeficiency 16 def: "A combined T cell and B cell immunodeficiency characterized by classic Kaposi sarcoma of childhood, poor T-cell recall immune responses, and decrease in the proportion of circulating memory B cells that has_material_basis_in homozygous or compound heterozygous mutation in the TNFRSF4 gene on chromosome 1p36.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20156905/ "DO", https://pubmed.ncbi.nlm.nih.gov/23897980/ "DO"] synonym: "combined immunodeficiency due to OX40 deficiency" EXACT [] synonym: "combined immunodeficiency with childhood-onset Kaposi sarcoma" EXACT [] synonym: "combined immunodeficiency with impaired immunity to HHV-8" EXACT [] synonym: "combined immunodeficiency with impaired immunity to human herpes virus 8" EXACT [] synonym: "IMD16" EXACT [] synonym: "OX40 deficiency" EXACT [] xref: MIM:615593 xref: ORDO:431149 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111936 name: immunodeficiency 14 alt_id: MIM:615513 alt_id: MIM:619281 def: "A combined T cell and B cell immunodeficiency characterized by B- and T-cell abnormalities and onset of recurrent sinopulmonary and other infections in early childhood that has_material_basis_in heterozygous activating mutation in the PIK3CD gene on chromosome 1p36.22. (DO)" [https://ghr.nlm.nih.gov/condition/activated-pi3k-delta-syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/24165795/ "DO"] synonym: "activated PI3K-delta syndrome" EXACT [] synonym: "APDS" EXACT [] synonym: "APDS (Activated PI3K-delta Syndrome)" EXACT [] synonym: "APD Syndrome" EXACT [] synonym: "autosomal dominant immunodeficiency 14A" NARROW [] synonym: "autosomal dominant immunodeficiency-14A with lymphoproliferation" NARROW [] synonym: "autosomal recessive immunodeficiency 14B" NARROW [] synonym: "IMD14" EXACT [] synonym: "IMD14A" NARROW [] synonym: "IMD14B" NARROW [] synonym: "p110-delta-activating mutation causing senescent T cells, lymphadenopathy, and immunodeficiency" EXACT [] synonym: "PASLI" EXACT [] synonym: "PASLI disease" EXACT [] synonym: "senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation" EXACT [] xref: GARD:11983 xref: MESH:C585640 xref: NCI:C187988 xref: ORDO:397596 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111937 name: immunodeficiency 22 def: "A severe combined immunodeficiency characterized by severe combined immunodeficiency, selective CD4 lymphopenia, and lack of CD28 expression on CD8+ T cells that has_material_basis_in homozygous or compound heterozygous mutation in the LCK gene on chromosome 1p35.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9664084/ "DO"] synonym: "IMD22" EXACT [] synonym: "SCID due to LCK deficiency" EXACT [] synonym: "SCID due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [] synonym: "severe combined immunodeficiency due to LCK deficiency" EXACT [] synonym: "severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency" EXACT [] xref: MIM:615758 xref: MONDO:0014334 xref: NCI:C176808 xref: ORDO:280142 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111938 name: immunodeficiency 24 def: "A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24870241/ "DO"] synonym: "IMD24" EXACT [] synonym: "SCID due to CTPS1 deficiency" EXACT [] synonym: "severe combined immunodeficiency due to CTPS1 deficiency" EXACT [] xref: MIM:615897 xref: ORDO:420573 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111939 name: immunodeficiency 37 def: "A combined T cell and B cell immunodeficiency characterized by hypogammaglobulinemia with profoundly reduced memory B cells and memory T cells and increased numbers of circulating naive lymphocytes that has_material_basis_in homozygous or compound heterozygous mutation in the BCL10 gene on chromosome 1p22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25365219/ "DO"] synonym: "IMD37" EXACT [] xref: MIM:616098 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111940 name: immunodeficiency 42 def: "A primary immunodeficiency disease characterized by onset in infancy of increased susceptibility to mycobacterial and candidal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RORC gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26160376/ "DO"] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency" EXACT [] synonym: "autosomal recessive MSMD due to complete RORgamma receptor defiency" EXACT [] synonym: "autosomal recessive primary immunodeficiency due to RORC mutation" EXACT [] synonym: "IMD42" EXACT [] xref: MIM:616622 xref: ORDO:477857 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111941 name: immunodeficiency 20 def: "A primary immunodeficiency disease characterized by a defect in spontaneous NK cell cytotoxicity that has_material_basis_in homozygous or compound heterozygous mutation in the FCGR3A gene on chromosome 1q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23006327/ "DO"] synonym: "autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity" EXACT [] synonym: "autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity" EXACT [] synonym: "CD16 deficiency" EXACT [] synonym: "IMD20" EXACT [] xref: MIM:615707 xref: ORDO:437552 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111942 name: immunodeficiency 25 alt_id: MIM:610163 def: "A T cell deficiency characterized by decreased T cell counts, normal B cell counts, and eosinophilia that has_material_basis_in homozygous or compound heterozygous mutation in the CD247 gene on chromosome 1q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16672702/ "DO"] synonym: "IMD25" EXACT [] synonym: "immunodeficiency due to defect in CD3-zeta" EXACT [] xref: MESH:C565712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111943 name: immunodeficiency 48 alt_id: MIM:269840 def: "A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2511270/ "DO"] synonym: "combined immunodeficiency due to ZAP70 deficiency" EXACT [] synonym: "IMD48" EXACT [] synonym: "selective T-cell defect" EXACT [] synonym: "STCD" EXACT [] synonym: "ZAP70-related SCID" EXACT [] synonym: "ZAP70-related severe combined immunodeficiency" EXACT [] synonym: "zeta-associated-protein 70 deficiency" EXACT [] xref: GARD:387 xref: MESH:C536722 xref: ORDO:911 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2019-02-27T08:16:15Z [Term] id: DOID:0111944 name: immunodeficiency 31B def: "A primary immunodeficiency disease characterized by impaired cellular responses to interferons A, B, and G resulting increased susceptibility to mycobacteria, Salmonella, and viruses that has_material_basis_in homozygous or compound heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12590259/ "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO"] synonym: "IMD31B" EXACT [] synonym: "IMMUNODEFICIENCY 31B, MYCOBACTERIAL AND VIRAL INFECTIONS, AUTOSOMAL RECESSIVE" EXACT [] synonym: "MYCOBACTERIAL AND VIRAL INFECTIONS, SUSCEPTIBILITY TO, AUTOSOMAL RECESSIVE" RELATED [] synonym: "predisposition to severe viral infection due to STAT1 deficiency" EXACT [] synonym: "STAT1 deficiency, autosomal recessive" EXACT [] synonym: "susceptibility to viral and mycobacterial infections due to STAT1 deficiency" EXACT [] xref: MIM:613796 xref: ORDO:391311 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001415 ! Mycobacterium Infections is_a: DOID:934 ! viral infectious disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111945 name: immunodeficiency 31A def: "A primary immunodeficiency disease characterized by impaired response to IFNG but not to INFA or IFNB resulting in increased susceptibility to mycobacterial infection that has_material_basis_in heterozygous mutation in the STAT1 gene on chromosome 2q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11452125/ "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO"] synonym: "IMD31A" EXACT [] synonym: "IMMUNODEFICIENCY 31A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency" EXACT [] synonym: "MSMD due to partial signal transducer and activator of transcription 1 deficiency" EXACT [] synonym: "MSMD due to partial STAT1 deficiency" EXACT [] synonym: "STAT1 deficiency, autosomal dominant" EXACT [] xref: MIM:614892 xref: ORDO:319595 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111946 name: immunodeficiency 31C def: "A primary immunodeficiency disease characterized by onset in infancy or childhood of chronic mucocutaneous candidiasis and increased IFNG activation that has_material_basis_in heterozygous gain of function mutation in the STAT1 gene on chromosome 2q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21714643/ "DO", https://pubmed.ncbi.nlm.nih.gov/23534974/ "DO", https://pubmed.ncbi.nlm.nih.gov/23541320/ "DO"] synonym: "autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome" EXACT [] synonym: "autosomal dominant immunodeficiency 31C" EXACT [] synonym: "CANDF7" EXACT [] synonym: "familial candidiasis 7" EXACT [] synonym: "familial chronic mucocutaneous candidiasis, autosomal dominant" BROAD [] synonym: "IMD31C" EXACT [] xref: MIM:614162 xref: NCI:C172099 xref: ORDO:391487 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2058 ! chronic mucocutaneous candidiasis is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111947 name: immunodeficiency 21 alt_id: MIM:614172 def: "A primary immunodeficiency disease characterized by profoundly decreased or absent monocytes, B lymphocytes, natural killer (NK) lymphocytes, and circulating and tissue dendritic cells with normal or nearly normal T cell numbers that has_material_basis_in heterozygous mutation in the GATA2 gene on chromosome 3q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21242295/ "DO", https://pubmed.ncbi.nlm.nih.gov/21670465/ "DO", https://pubmed.ncbi.nlm.nih.gov/24227816/ "DO"] synonym: "COMBINED IMMUNODEFICIENCY WITH SUSCEPTIBILITY TO MYCOBACTERIAL, VIRAL, AND FUNGAL INFECTIONS" EXACT [] synonym: "DCML" EXACT [] synonym: "dendritic cell, monocyte, B and NK lymphoid deficiency" EXACT [] synonym: "DENDRITIC CELL, MONOCYTE, B LYMPHOCYTE, AND NATURAL KILLER LYMPHOCYTE DEFICIENCY" EXACT [] synonym: "GATA2 deficiency" EXACT [] synonym: "IMD21" EXACT [] synonym: "monocyte-B-natural killer-dendritic cell deficiency syndrome" EXACT [] synonym: "monocytopenia and mycobacterial infection syndrome" EXACT [] synonym: "monocytopenia with susceptibility to infections" EXACT [] synonym: "monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia" EXACT [] synonym: "MONOMAC" EXACT [] synonym: "monomac monocytopenia with susceptibility to mycobacterial, fungal, and papillomavirus infections and myelodysplasia" EXACT [] xref: GARD:10934 xref: MESH:D000077428 xref: NCI:C126349 xref: ORDO:228423 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111948 name: immunodeficiency 46 def: "A combined T cell and B cell immunodeficiency characterized by hypo- or agammaglobulinemia, normal lymphocyte counts, intermittent neutropenia, intermittent thrombocytopenia, decreased numbers of memory B cells, impaired immunoglobulin class-switching, and decreased proliferative responses of T cells that has_material_basis_in homozygous or compound heterozygous mutation in the TFRC gene on chromosome 3q29. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26642240/ "DO"] synonym: "CID due to TFRC deficiency" EXACT [] synonym: "combined immunodeficiency due to TFRC deficiency" EXACT [] synonym: "IMD46" EXACT [] synonym: "TFRC-related combined immunodeficiency" EXACT [] xref: MIM:616740 xref: ORDO:476113 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111949 name: immunodeficiency 36 def: "A combined T cell and B cell immunodeficiency characterized by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27221134/ "DO"] synonym: "activated phosphoinositide 3-kinase delta syndrome 2" EXACT [] synonym: "IMD36" EXACT [] synonym: "immunodeficiency-36 with lymphoproliferation" EXACT [] xref: MIM:616005 xref: NCI:C176703 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2018-01-17T14:46:50Z [Term] id: DOID:0111950 name: immunodeficiency 29 def: "A primary immunodeficiency disease characterized by undetectable IL12B secretion by leukocytes and increased susceptibility to intracellular bacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IL12B gene on chromosome 5q33.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO", https://pubmed.ncbi.nlm.nih.gov/9854038/ "DO"] synonym: "IL12B deficiency" EXACT [] synonym: "IMD29" EXACT [] synonym: "immunodeficiency 29, mycobacteriosis" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency" EXACT [] synonym: "MSMD due to complete IL12B deficiency" EXACT [] synonym: "MSMD due to complete interleukin 12B deficiency" EXACT [] xref: MIM:614890 xref: ORDO:319558 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111951 name: immunodeficiency 40 def: "A combined T cell and B cell immunodeficiency characterized by reduced T-cell number and function, with variable defects in B-cell and NK-cell function resulting in onset in early childhood of invasive bacterial and viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK2 gene on chromosome 5q35.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26083206/ "DO"] synonym: "DOCK2 deficiency" EXACT [] synonym: "IMD40" EXACT [] xref: GARD:12653 xref: MIM:616433 xref: NCI:C176799 xref: ORDO:447737 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111952 name: immunodeficiency 57 def: "A primary immunodeficiency disease characterized by recurrent infections starting in the first year of life, lymphopenia, altered production of various cytokines, inflammatory polyarthritis, and chronic active inflammation of the digestive tract that has_material_basis_in homozygous or compound heterozygous mutation in the RIPK1 gene on chromosome 6p25.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30026316/ "DO"] synonym: "IMD57" EXACT [] synonym: "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome" EXACT [] synonym: "immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome" EXACT [] synonym: "immunodeficiency 57 with autoinflammation" EXACT [] synonym: "RIPK1-RELATED CONDITION" BROAD [] xref: MIM:618108 xref: ORDO:529977 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111953 name: immunodeficiency 23 def: "A combined T cell and B cells immunodeficiency characterized by marked atopy and autoimmunity caused by increased T(H)2 and T(H)17 cytokine production by CD4(+) T cells, T-cell lymphopenia, reduced memory B-cell numbers, recurrent respiratory and skin infections beginning in early childhood, increased serum IgE, and variable developmental delay or intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the PGM3 gene on chromosome 6q14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14981714/ "DO", https://pubmed.ncbi.nlm.nih.gov/24589341/ "DO"] synonym: "CID due to PGM3 deficiency" EXACT [] synonym: "combined immunodeficiency due to PGM3 deficiency" EXACT [] synonym: "IMD23" EXACT [] synonym: "Immunodeficiency-Vasculitis-Myoclonus Syndrome" EXACT [] synonym: "immunodeficiency with hyper IgE and cognitive impairment" EXACT [] synonym: "IVMS" EXACT [] synonym: "PGM3-CDG" EXACT [] synonym: "PGM3-related congenital disorder of glycosylation" EXACT [] xref: GARD:4331 xref: MIM:615816 xref: NCI:C126339 xref: ORDO:443811 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: slaulede creation_date: 2018-08-17T13:59:10Z [Term] id: DOID:0111954 name: immunodeficiency 60 def: "A combined T cell and B cell immunodeficiency characterized by variably decreased immunoglobulin production, decreased T-regulatory cells, overall impaired lymphocyte maturation, inflammatory bowel disease and recurrent sinopulmonary infections that has_material_basis_in heterozygous mutation in the BACH2 gene on chromosome 6q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28530713/ "DO"] synonym: "BACH2-RELATED CONDITION" NARROW [] synonym: "BRIDA" EXACT [] synonym: "IMD60" EXACT [] synonym: "immunodeficiency 60 and autoimmunity" EXACT [] synonym: "immunodeficiency and autoimmunity, BACH2-related" EXACT [] xref: MIM:618394 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111955 name: immunodeficiency 27A def: "A primary immunodeficiency disease characterized by high circulating levels of IFNG, failure of cellular responses to IFNG, and early and often fatal mycobacterial infections that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO", https://pubmed.ncbi.nlm.nih.gov/8960473/ "DO", https://pubmed.ncbi.nlm.nih.gov/8960475/ "DO"] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "autosomal recessive MSMD due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "IFNGR1 DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT [] synonym: "IMD27A" EXACT [] synonym: "immunodeficiency 27A, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:209950 xref: ORDO:319569 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111956 name: immunodeficiency 27B def: "A primary immunodeficiency disease characterized by residual cellular responses to IFNG in vitro and recurrent, moderately severe infections with environmental mycobacteria or bacillus Calmette-Guerin that has_material_basis_in heterozygous mutation in the IFNGR1 gene on chromosome 6q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10192386/ "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO"] synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "autosomal dominant MSMD due to partial IFNgammaR1 deficiency" EXACT [] synonym: "autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency" EXACT [] synonym: "IFNGR1 DEFICIENCY, AUTOSOMAL DOMINANT" EXACT [] synonym: "IMD27B" EXACT [] synonym: "immunodeficiency 27B, mycobacteriosis, autosomal dominant" EXACT [] xref: MIM:615978 xref: ORDO:319581 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111957 name: immunodeficiency 11A def: "A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23374270/ "DO", https://pubmed.ncbi.nlm.nih.gov/23561803/ "DO"] synonym: "CARD11 deficiency" EXACT [] synonym: "CARD11 Immunodeficiency" EXACT [] synonym: "IMD11" EXACT [] synonym: "IMD11A" EXACT [] synonym: "immunodeficiency 11" EXACT [] synonym: "SCID due to CARD11 deficiency" EXACT [] synonym: "severe combined immunodeficiency due to CARD11 deficiency" EXACT [] xref: MIM:615206 xref: ORDO:357237 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111958 name: immunodeficiency 11B def: "A T cell deficiency characterized by defects in T-cell activation, increased IgE, eosinophilia and early childhood onset of moderate to severe atopic dermatitis that has_material_basis_in heterozygous mutation in the CARD11 gene on chromosome 7p22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28628108/ "DO"] synonym: "atopic dermatitis, elevated IgE, and eosinophilia" EXACT [] synonym: "IMD11B" EXACT [] synonym: "immunodeficiency 11B with atopic dermatitis" EXACT [] xref: MIM:617638 xref: NCI:C176630 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111959 name: immunodeficiency 15B def: "A severe combined immunodeficiency characterized by onset in infancy of life-threatening bacterial, fungal, and viral infections, failure to thrive, impaired differentiation and activation of immune cells, and hypo- or agammaglobulinemia but relatively normal B and T cell numbers that has_material_basis_in homozygous or compound heterozygous mutation in the IKBKB gene on chromosome 8p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24369075/ "DO"] synonym: "IMD15B" EXACT [] xref: MIM:615592 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:9008991 ! IMMUNODEFICIENCY 15 created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111960 name: immunodeficiency 15A def: "A combined T cell and B cell immunodeficiency characterized by immune dysregulation, combined T and B cell deficiency, inflammation, and epithelial defects that has_material_basis_in heterozygous missense mutation in the IKBKB gene on chromosome 8p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30337470/ "DO"] synonym: "IMD15A" EXACT [] xref: MIM:618204 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency is_a: DOID:9008991 ! IMMUNODEFICIENCY 15 created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111961 name: immunodeficiency 26 def: "A severe combined immunodeficiency characterized by virtually absent peripheral B and T cells but normal numbers of NK cells, complete block in B-cell differentiation, and a defect in slow repair of DNA double-strand breaks in fibroblasts, that has_material_basis_in homozygous or compound heterozygous mutation in the PRKDC gene on chromosome 8q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19075392/ "DO", https://pubmed.ncbi.nlm.nih.gov/23722905/ "DO"] synonym: "IMD26" EXACT [] synonym: "immunodeficiency 26 with or without neurologic abnormalities" EXACT [] synonym: "immunodeficiency 26 without neurologic abnormalities" NARROW [] synonym: "SCID due to DNA-PKcs deficiency" EXACT [] synonym: "severe combined immunodeficiency due to DNA-PKcs deficiency" EXACT [] xref: MIM:615966 xref: NCI:C176795 xref: ORDO:317425 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:9003814 ! Neurologic Manifestations created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111962 name: combined immunodeficiency def: "A primary immunodeficiency disease that involves multiple components of the immune system. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32048120/ "DO"] synonym: "MAN2B2-RELATED DISORDER" NARROW [] is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111963 name: dendritic cell deficiency def: "A primary immunodeficiency disease characterized by impaired function or reduced numbers of dendritic cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"] is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111964 name: B cell and dendritic cell deficiency def: "A combined immunodeficiency characterized by impaired function or reduced numbers of dendritic cells and B cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"] is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0111965 name: T cell, B cell, and NK cell deficiency def: "A combined immunodeficiency characterized by impaired function or reduced numbers of T cells, B cells, and natural killer (NK) cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"] is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111966 name: monocyte, dendritic cell, and NK cell deficiency def: "A combined immunodeficiency characterized by impaired function or reduced numbers of monocytes, dendritic cells, and natural killer (NK) cells. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK27092/ "DO"] is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111967 name: immunodeficiency 54 def: "An NK cell deficiency characterized by severe intra- and extrauterine growth retardation, microcephaly, decreased numbers of CD56(dim) natural killer cells, adrenal insufficiency, and recurrent viral infections that has_material_basis_in homozygous or compound heterozygous mutation in the MCM4 gene on chromosome 8q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16532402/ "DO", https://pubmed.ncbi.nlm.nih.gov/22354167/ "DO"] synonym: "familial isolated natural killer cell deficiency" EXACT [] synonym: "IMD54" EXACT [] synonym: "MCM4-RELATED CONDITION" EXACT [] synonym: "Natural Killer Cell and Glucocorticoid Deficiency with DNA Repair Defect" EXACT [] synonym: "NKCD" EXACT [] synonym: "NKGCD" EXACT [] synonym: "primary immunodeficiency due to MCM4 deficiency" EXACT [] synonym: "primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency" EXACT [] xref: MESH:C566492 xref: MIM:609981 xref: NCI:C123729 xref: ORDO:75391 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080709 ! NK cell deficiency is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111968 name: immunodeficiency 41 alt_id: MIM:606367 def: "A combined immunodeficiency characterized by a defect in T cell regulation with proliferation of CD8+ T cells, impaired antibody specific responses, and elevated cytokines resulting in recurrent viral, fungal, and bacterial infections, lymphadenopathy, and variable autoimmune features that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RA gene on chromosome 10p15.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23416241/ "DO", https://pubmed.ncbi.nlm.nih.gov/9096364/ "DO"] synonym: "CD25 Deficiency" EXACT [] synonym: "deficiency of interleukin 2 receptor, alpha" EXACT [] synonym: "IL2RA Deficiency" EXACT [] synonym: "IMD41" EXACT [] synonym: "IMMUNODEFICIENCY 41 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY" EXACT [] synonym: "immunodeficiency due to CD25 deficiency" EXACT [] synonym: "interleukin-2 receptor alpha chain deficiency" EXACT [] xref: MESH:C565232 xref: ORDO:169100 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111969 name: immunodeficiency 39 def: "A primary immunodeficiency disease characterized by impaired interferon I and III production in response to influenza virus infection that has_material_basis_in homozygous or compond heterozygous mutation in the IRF7 gene on chromosome 11p15.5. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25814066/ "DO"] synonym: "IMD39" EXACT [] synonym: "IRF7-RELATED CONDITION" EXACT [] xref: MIM:616345 xref: MONDO:0014597 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111970 name: immunodeficiency 10 alt_id: MIM:612783 def: "A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26560041/ "DO"] synonym: "CID due to STIM1 deficiency" EXACT [] synonym: "combined immunodeficiency due to STIM1 deficiency" EXACT [] synonym: "IMD10" EXACT [] synonym: "Immune Dysfunction with T-Cell Inactivation due to Calcium Entry Defect 2" EXACT [] synonym: "STIM1 deficiency" EXACT [] xref: MESH:C557827 xref: ORDO:317430 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111971 name: immunodeficiency 18 alt_id: MIM:615615 def: "A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15546002/ "DO", https://pubmed.ncbi.nlm.nih.gov/8490660/ "DO"] synonym: "CD3-epsilon deficiency" EXACT [] synonym: "IMD18" EXACT [] synonym: "immunodeficiency 18, SCID variant" RELATED [] synonym: "immunodeficiency 18, severe combined" RELATED [] synonym: "immunodeficiency due to defect in CD3-Epsilon" EXACT [] synonym: "immunodeficiency variant" RELATED [] xref: MESH:C566082 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111972 name: immunodeficiency 19 def: "A severe combined immunodeficiency characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections with a T cell-negative, B cell-positive, natural killer cell-positive immune cell phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the CD3D gene on chromosome 11q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14602880/ "DO", https://pubmed.ncbi.nlm.nih.gov/21883749/ "DO"] synonym: "CD3-DELTA DEFICIENCY" EXACT [] synonym: "IMD19" EXACT [] synonym: "immunodeficiency 19, severe combined" EXACT [] synonym: "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE" EXACT [] synonym: "severe combined immunodeficiency, T-cell-negative, B-cell-positive, NK-cell-positive" EXACT [] xref: MIM:615617 xref: MONDO:0014280 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111973 name: immunodeficiency 17 alt_id: MIM:615607 def: "A T cell deficiency characterized by partial T-cell lymphopenia with normal numbers of B and NK cells and highly variable clincal severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3G gene on chromosome 11q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1635567/ "DO", https://pubmed.ncbi.nlm.nih.gov/17277165/ "DO", https://pubmed.ncbi.nlm.nih.gov/8325321/ "DO"] synonym: "CD3-Gamma Deficiency" EXACT [] synonym: "CD3 Gamma Deficient" EXACT [] synonym: "IMD17" EXACT [] synonym: "immunodeficiency 17, CD3 gamma deficient" EXACT [] synonym: "Immunodeficiency due to Defect in CD3-Gamma" EXACT [] synonym: "SCID-like immunodeficiency, T-cell-partial, B-cell-positive, NK-cell-positive" EXACT [] xref: MESH:C566083 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111974 name: immunodeficiency 59 alt_id: MIM:233600 def: "A B cell and dendritic cell deficiency characterized by granulocytopenia, B-cell and dentritic cell deficiency, recurrent septic infections of the respiratory tract, skin, and mucous membranes, and stress-induced hypoglycemia that has_material_basis_in homozygous or compound heterozygous mutation in the HYOU1 gene on chromosome 11q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27913302/ "DO"] synonym: "granulocytopenia with immunoglobin abnormality" EXACT [] synonym: "granulocytopenia with immunoglobulin abnormality" EXACT [] synonym: "HYOU1-RELATED CONDITION" EXACT [] synonym: "IMD59" EXACT [] synonym: "immunodeficiency 59 and hypoglycemia" EXACT [] xref: MESH:C565535 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111964 ! B cell and dendritic cell deficiency is_a: DOID:12987 ! agranulocytosis is_a: DOID:2583 ! agammaglobulinemia created_by: rgd creation_date: 2017-08-08T00:00:00Z [Term] id: DOID:0111975 name: immunodeficiency 44 def: "A primary immunodeficiency disease characterized by increased susceptibility to viral infections and adverse multisystemic reaction to vaccination with apparent defects in mitochondrial fission and fusion that has_material_basis_in homozygous or compound heterozygous mutation in the STAT2 gene on chromosome 12q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23391734/ "DO", https://pubmed.ncbi.nlm.nih.gov/26122121/ "DO"] synonym: "IMD44" EXACT [] xref: MIM:616636 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111976 name: immunodeficiency 9 alt_id: MIM:612782 def: "A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16582901/ "DO", https://pubmed.ncbi.nlm.nih.gov/20004786/ "DO"] synonym: "CID due to ORAI1 deficiency" EXACT [] synonym: "combined immunodeficiency due to ORAI1 deficiency" EXACT [] synonym: "IMD9" EXACT [] synonym: "immune dysfunction with T-cell inactivation due to calcium entry defect 1" EXACT [] synonym: "ORAI1-RELATED CONDITION" BROAD [] xref: MESH:C557826 xref: ORDO:317428 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111977 name: immunodeficiency 7 def: "A T cell deficiency characterized by decreased or absent CD3+ T cells with TCR-alpha/beta expression, immune dysregulation, recurrent infections, and failure to thrive that has_material_basis_in homozygous or compound heterozygous mutation in the TRAC gene on chromosome 14q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21206088/ "DO"] synonym: "IMD7" EXACT [] synonym: "immunodeficiency 7, TCR-alpha/beta deficient" EXACT [] synonym: "T-Cell Receptor-Alpha/Beta Deficiency" EXACT [] synonym: "TCR-alpha/beta deficiency" EXACT [] synonym: "TCR-alpha-beta-positive T-cell deficiency" EXACT [] xref: MIM:615387 xref: ORDO:397959 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:9500 ! leukocyte disease created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:0111978 name: immunodeficiency 65 def: "A primary immunodeficiency disease characterized by onset in early infancy of recurrent and severe viral infections, impaired cellular type I interferon response, and poor outcomes after vaccination with live attenuated vaccines that has_material_basis_in homozygous or compound heterozygous mutation in the IRF9 gene on chromosome 14q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30143481/ "DO", https://pubmed.ncbi.nlm.nih.gov/30826365/ "DO"] synonym: "IMD65" EXACT [] synonym: "immunodeficiency 65, susceptibility to viral infections" EXACT [] xref: MIM:618648 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2019-03-20T08:37:01Z [Term] id: DOID:0111979 name: immunodeficiency 49 def: "A T cell deficiency characterized by T cell lymphopenia, low T-cell receptor excision circles, impaired T-cell proliferative responses, dysmorphic facial features, hypotonia and severe global developmental delay that has_material_basis_in heterozygous mutation in the BCL11B gene on chromosome 14q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27959755/ "DO", https://pubmed.ncbi.nlm.nih.gov/29985992/ "DO"] synonym: "BCL11B-RELATED BAFOPATHY" BROAD [] synonym: "IMD49" EXACT [] synonym: "immunodeficiency 49, severe combined" EXACT [] synonym: "SCID, T CELL-NEGATIVE, B CELL-POSITIVE, NK CELL-POSITIVE, WITH INTELLECTUAL DISABILITY, SPASTICITY, AND CRANIOFACIAL ABNORMALITIES" EXACT [] synonym: "severe combined immunodeficiency, T-cell-negative, B-cell-positive, NK-cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities" EXACT [] xref: MIM:617237 xref: MONDO:0014981 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11200 ! T cell deficiency is_a: DOID:627 ! severe combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111980 name: immunodeficiency 64 def: "A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27776107/ "DO", https://pubmed.ncbi.nlm.nih.gov/29155103/ "DO", https://pubmed.ncbi.nlm.nih.gov/29282224/ "DO"] synonym: "IMD64" EXACT [] synonym: "immunodeficiency-64 with lymphoproliferation" EXACT [] xref: MIM:618534 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111965 ! T cell, B cell, and NK cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111981 name: immunodeficiency 43 alt_id: MIM:241600 def: "A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16549777/ "DO", https://pubmed.ncbi.nlm.nih.gov/25702838/ "DO"] synonym: "B2M deficiency" EXACT [] synonym: "BETA-2-MICROGLOBULIN DEFICIENCY" EXACT [] synonym: "hypercatabolic hypoproteinemia" EXACT [] synonym: "IMD43" EXACT [] xref: MESH:C565476 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:655 ! inherited metabolic disorder created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111982 name: immunodeficiency 56 def: "A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23440042/ "DO"] synonym: "combined immunodeficiency due to IL21R deficiency" EXACT [] synonym: "IL21R immunodeficiency" EXACT [] synonym: "IMD56" EXACT [] xref: MIM:615207 xref: ORDO:357329 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111983 name: immunodeficiency 52 def: "A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27242165/ "DO", https://pubmed.ncbi.nlm.nih.gov/27522155/ "DO"] synonym: "IMD52" EXACT [] synonym: "severe combined immunodeficiency due to LAT deficiency" EXACT [] xref: MIM:617514 xref: ORDO:504523 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111984 name: immunodeficiency 58 def: "A combined T cell and B cell immunodeficiency characterized by defective T-cell function with decreased Treg cells and deficient CD3/CD28 costimulation responses in both CD4+ and CD8+ T cells, variable impairment in B-cell function, early-onset skin lesions, recurrent respiratory infections or allergies, and chronic persistent infections that has_material_basis_in homozygous or compound heterozygous mutation in the CARMIL2 gene on chromosome 16q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27647349/ "DO", https://pubmed.ncbi.nlm.nih.gov/29479355/ "DO"] synonym: "CARMIL2-RELATED CONDITION" EXACT [] synonym: "IMD58" EXACT [] synonym: "severe combined immunodeficiency due to CARMIL2 deficiency" EXACT [] xref: MIM:618131 xref: ORDO:542301 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111985 name: immunodeficiency 32B def: "A monocyte, dendritic cell, and NK cell deficiency characterized by defects in monocyte, dendritic cell, and natural killer (NK) cell development or function resulting recurrent infections particularly viral nfections that has_material_basis_in homozygous or compound heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27893462/ "DO", https://pubmed.ncbi.nlm.nih.gov/6279813/ "DO"] synonym: "IMD32B" EXACT [] synonym: "IMMUNODEFICIENCY 32B, MONOCYTE AND DENDRITIC CELL DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT [] synonym: "IRF8 DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT [] synonym: "monocyte and dendritic cell deficiency, autosomal recessive" EXACT [] xref: MIM:226990 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111966 ! monocyte, dendritic cell, and NK cell deficiency is_a: DOID:9500 ! leukocyte disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111986 name: immunodeficiency 32A def: "A dendritic cell deficiency characterized by marked loss of CD11C-positive/CD1C dendritic cells and increased susceptibility to mycobacterial infections that has_material_basis_in heterozygous mutation in the IRF8 gene on chromosome 16q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21524210/ "DO"] synonym: "CD11C-POSITIVE/CD1C-POSITIVE DENDRITIC CELL DEFICIENCY, AUTOSOMAL DOMINANT" EXACT [] synonym: "IMD32A" EXACT [] synonym: "IMMUNODEFICIENCY 32A, MYCOBACTERIOSIS, AUTOSOMAL DOMINANT" EXACT [] synonym: "IRF8 deficiency, autosomal dominant" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency" EXACT [] synonym: "MSMD due to partial interferon regulatory factor 8 deficiency" EXACT [] synonym: "MSMD due to partial IRF8 deficiency" EXACT [] xref: MIM:614893 xref: MONDO:0013957 xref: ORDO:319600 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111963 ! dendritic cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111987 name: immunodeficiency 13 def: "A T cell deficiency characterized by decreased CD4 T-lymphocyte counts that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22184408/ "DO"] synonym: "IMD13" EXACT [] synonym: "UNC119-RELATED CONDITION" BROAD [] xref: GARD:12375 xref: MIM:615518 xref: ORDO:228000 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111988 name: immunodeficiency 12 def: "A combined immunodeficiency characterized by decreased titers of specific antibodies and impaired T cells proliferative responses to mitogens that has_material_basis_in homozygous or compound heterozygous mutation in the MALT1 gene on chromosome 18q21.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23727036/ "DO", https://pubmed.ncbi.nlm.nih.gov/24332264/ "DO"] synonym: "combined immunodeficiency due to MALT1 deficiency" EXACT [] synonym: "IMD12" EXACT [] xref: MIM:615468 xref: ORDO:397964 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111989 name: immunodeficiency 35 alt_id: MIM:611521 def: "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial infection after BCG vaccination and impaired cellular responses to IL-12, IFN-alpha/beta, IL-23, and IL-10 that has_material_basis_in homozygous or compound heterozygous mutation in the TYK2 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26304966/ "DO"] synonym: "autosomal recessive HIES with atypical mycobacteriosis" EXACT [] synonym: "autosomal recessiv HIES with atypical mycobacteriosis" EXACT [] synonym: "Hyper-IgE Syndrome with Atypical Mycobacteriosis, Autosomal Recessive" EXACT [] synonym: "IMD35" EXACT [] synonym: "susceptibility to infection due to TYK2 deficiency" EXACT [] synonym: "TYK2 Deficiency" EXACT [] synonym: "tyrosine kinase 2 deficiency" EXACT [] xref: MESH:C566928 xref: ORDO:331226 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080545 ! hyper IgE syndrome is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111990 name: immunodeficiency 30 def: "A T cell and NK cell immunodeficiency characterized by absence of responses to IL12 and IL23 in T calls and NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL12RB1 gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO", https://pubmed.ncbi.nlm.nih.gov/9603732/ "DO", https://pubmed.ncbi.nlm.nih.gov/9603733/ "DO"] synonym: "IL12RB1 Deficiency" EXACT [] synonym: "IMD30" EXACT [] synonym: "Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency" EXACT [] synonym: "MSMD due to complete IL12RB1 deficiency" EXACT [] synonym: "MSMD due to complete interleukin 12 receptor beta 1 deficiency" EXACT [] xref: MIM:614891 xref: NCI:C176800 xref: ORDO:319552 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111991 name: immunodeficiency 62 def: "A B cell deficiency characterized by onset late in the first decade of life of recurrent upper and lower respiratory infections, impaired antibody response to vaccination, low levels of circulating memory B cells, and almost undetectable antibodies that has_material_basis_in homozygous or compound heterozygous mutation in the ARHGEF1 gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30521495/ "DO"] synonym: "IMD62" EXACT [] xref: MIM:618459 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2115 ! B cell deficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111992 name: immunodeficiency 53 def: "A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26385063/ "DO"] synonym: "IMD53" EXACT [] synonym: "RELB-RELATED CONDITION" EXACT [] xref: MIM:617585 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0111993 name: immunodeficiency 55 def: "A combined immunodeficiency characterized by intrauterine growth retardation and a defect in DNA replication causing impaired immune cell differentiation in the bone marrow resulting in natural killer cell deficiency and chronic neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the GINS1 gene on chromosome 20p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28414293/ "DO"] synonym: "combined immunodeficiency due to GINS1 deficiency" EXACT [] synonym: "IMD55" EXACT [] xref: MIM:617827 xref: ORDO:505227 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111994 name: immunodeficiency 45 def: "A primary immunodeficiency disease characterized by impaired control the replication of certain viruses and failure to develop an antiviral state in response to alpha-interferon or beta-interferon that has_material_basis_in homozygous or compound heterozygous mutation in the IFNAR2 gene on chromosome 21q22.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26424569/ "DO"] synonym: "IMD45" EXACT [] xref: MIM:616669 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111995 name: immunodeficiency 28 def: "A primary immunodeficiency disease characterized by increased susceptibility to mycobacterial disease, high levels of IFNG in the plasma, and absence of cellular response to IFNG that has_material_basis_in homozygous or compound heterozygous mutation in the IFNGR2 gene on chromosome 21q22.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11335769/ "DO", https://pubmed.ncbi.nlm.nih.gov/19084105/ "DO"] synonym: "IFNGR2 deficiency" EXACT [] synonym: "IMD28" EXACT [] synonym: "immunodeficiency 28, mycobacteriosis" EXACT [] synonym: "immunodeficiency 28, mycobacteriosis, autosomal recessive" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency" EXACT [] synonym: "Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency" EXACT [] synonym: "MSMD due to complete IFNgammaR2 deficiency" EXACT [] synonym: "MSMD due to complete interferon gamma receptor 2 deficiency" EXACT [] xref: MIM:614889 xref: ORDO:319547 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111996 name: immunodeficiency 51 def: "A primary immunodeficiency disease characterized by onset of chronic mucocutaneous candidiasis in the first years of life and lack of cellular responses to stimulation with certain IL17 isoforms that has_material_basis_in homozygous or compound heterozygous mutation in the IL17RA gene on chromosome 22q11.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27930337/ "DO"] synonym: "CANDF5" EXACT [] synonym: "familial candidiasis 5" EXACT [] synonym: "IMD51" EXACT [] xref: MIM:613953 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2058 ! chronic mucocutaneous candidiasis is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111997 name: immunodeficiency 63 def: "A T cell and NK cell immunodeficiency characterized by increased numbers but impaired differentiation of NK cells, T cell abnormalities, recurrent infections, and abnormal immune pathway activation resulting in lymphoid proliferation, dermatitis, enteropathy, and hypergammaglobulinemia that has_material_basis_in homozygous or compound heterozygous mutation in the IL2RB gene on chromosome 22q12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31040184/ "DO", https://pubmed.ncbi.nlm.nih.gov/31040185/ "DO"] synonym: "CD122 deficiency" EXACT [] synonym: "IL2RB deficiency" EXACT [] synonym: "IL2RB-RELATED CONDITION" EXACT [] synonym: "IMD63" EXACT [] synonym: "Immunodeficiency 63 with Lymphoproliferation and Autoimmunity" EXACT [] synonym: "interleukin 2 receptor, beta, deficiency of" EXACT [] xref: MIM:618495 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111998 name: immunodeficiency 66 def: "A primary immunodeficiency disease characterized by onset in infancy of recurrent bacterial infections and defective immune cell migration and chemotaxis primarily in neutrophils although other cell types may also be affected that has_material_basis_in homozygous or compound heterozygous mutation in the MKL1 gene on chromosome 22q13.1-q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26224645/ "DO"] synonym: "IMD66" EXACT [] xref: MIM:618847 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0111999 name: immunodeficiency 61 alt_id: MIM:300310 def: "A B cell deficiency characterized by onset in early childhood of recurrent infections due to an intrinsic defect in the ability of B cells to produce antibodies that has_material_basis_in hemizygous mutation in the SH3KBP1 gene on chromosome Xp22.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29636373/ "DO"] synonym: "AGMX2" EXACT [] synonym: "IMD61" EXACT [] synonym: "XLA2" EXACT [] synonym: "X-linked agammaglobulinemia type 2" EXACT [] xref: MESH:C538057 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:14179 ! X-linked agammaglobulinemia is_a: DOID:2115 ! B cell deficiency created_by: gthayman creation_date: 2019-04-17T11:33:21Z [Term] id: DOID:0112000 name: immunodeficiency 34 alt_id: MIM:300645 def: "A phagocyte bactericidal dysfunction characterized by impaired respiratory burst in all types of phagocytes and increased susceptibility to infection by poorly virulent mycobacteria that has_material_basis_in hemizygous mutation in the CYBB gene on chromosome Xp21.1-p11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17293536/ "DO", https://pubmed.ncbi.nlm.nih.gov/21278736/ "DO"] synonym: "AMCBX2" EXACT [] synonym: "Atypical Mycobacterial Infection, Disseminated, X-Linked 2" EXACT [] synonym: "Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 2" EXACT [] synonym: "IMD34" EXACT [] synonym: "X-linked familial atypical mycobacteriosis 2" EXACT [] synonym: "X-linked immunodeficiency 34, mycobacteriosis" EXACT [] synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency" EXACT [] synonym: "X-linked MSMD due to CYBB deficiency" EXACT [] xref: MESH:C567068 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3262 ! phagocyte bactericidal dysfunction is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0112001 name: immunodeficiency 50 def: "A combined immunodeficiency characterized by profound lymphopenia, hypogammaglobulinemia, poor immune response to vaccine antigens, fluctuating neutropenia and onset in early childhood of recurrent bacterial or varicella zoster virus infections that has_material_basis_in hemizygous mutation in MSN on chromosome Xq12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27405666/ "DO"] synonym: "CID due to Moesin deficiency" EXACT [] synonym: "combined immunodeficiency due to Moesin deficiency" EXACT [] synonym: "IMD50" EXACT [] synonym: "immunodeficiency 50, X-linked recessive" EXACT [] synonym: "MSN-related combined immunodeficiency" EXACT [] synonym: "X-linked Moesin-associated immunodeficiency" EXACT [] xref: MIM:300988 xref: ORDO:504530 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0112002 name: immunodeficiency 47 def: "A primary immunodeficiency disease characterized by liver dysfunction, recurrent bacterial infections, hypogammaglobulinemia, and defective glycosylation of serum proteins that has_material_basis_in hemizygous mutation in the ATP6AP1 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27231034/ "DO"] synonym: "CDG2S" EXACT [] synonym: "CDG IIs" EXACT [] synonym: "CDGIIs" EXACT [] synonym: "congenital disorder of glycosylation, type IIs" EXACT [] synonym: "IMD47" EXACT [] synonym: "immunodeficiency and hepatopathy with or without neurologic features" EXACT [] xref: MIM:300972 xref: MONDO:0010504 is_a: DOID:0050571 ! congenital disorder of glycosylation type II is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: rgd creation_date: 2018-01-17T15:00:22Z [Term] id: DOID:0112003 name: immunodeficiency 33 alt_id: MESH:C536289 alt_id: MESH:C564468 alt_id: MESH:C567070 def: "A combined immunodeficiency characterized by early-onset severe infection and variable immunological abnormalities that has_material_basis_in hemizygous mutation in the IKBKG gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15356572/ "DO", https://pubmed.ncbi.nlm.nih.gov/31965418/ "DO"] synonym: "AMCBX1" EXACT [] synonym: "Atypical Mycobacterial Infection, Disseminated, X-Linked 1" EXACT [] synonym: "Atypical Mycobacterial Infection, Familial Disseminated, X-Linked 1" EXACT [] synonym: "Atypical Mycobacteriosis, Familial, X-Linked 1" EXACT [] synonym: "IMD33" EXACT [] synonym: "IMMUNODEFICIENCY 33, MYCOBACTERIOSIS, X-LINKED" EXACT [] synonym: "Immunodeficiency without Anhidrotic Ectodermal Dysplasia" EXACT [] synonym: "IPD2" EXACT [] synonym: "isolated immunodeficiency" EXACT [] synonym: "pure immunodeficiency" EXACT [] synonym: "recurrent isolated invasive pneumococcal disease 2" EXACT [] synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency" EXACT [] synonym: "X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency" EXACT [] synonym: "X-linked MSMD due to IKBKG deficiency" EXACT [] synonym: "X-linked MSMD due to NEMO deficiency" EXACT [] synonym: "X-linked mycobacterial disease, susceptibility to, 1" EXACT [] xref: MIM:300636 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0112004 name: immunodeficiency 71 def: "A combined immunodeficiency characterized by thrombocytopenia, impaired neutrophil and T-cell chemotaxis, impaired T-cell activation, and onset in infancy or early childhood of recurrent infections and inflammatory features that has_material_basis_in homozygous or compound heterozygous mutation in the ARPC1B gene on chromosome 7q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30254128/ "DO"] synonym: "ARPC1B-RELATED CONDITION" EXACT [] synonym: "IMD71" EXACT [] synonym: "immunodeficiency-71 with inflammatory disease and congenital thrombocytopenia" EXACT [] synonym: "platelet abnormalities with eosinophilia and immune-mediated inflammatory disease" EXACT [] synonym: "PLTEID" EXACT [] xref: MIM:617718 xref: MONDO:0060583 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:2218 ! blood platelet disease is_a: DOID:9001371 ! Eosinophilia is_a: DOID:9005372 ! Inflammation created_by: mtutaj creation_date: 2020-08-22T00:00:00Z [Term] id: DOID:0112005 name: immunodeficiency 70 def: "A combined T cell and B cell immunodeficiency characterized by decreased CD4+ T cells, decreased CD19+ B cells, recurrent bacterial infections, and severe cutaneous warts on the hands, feet, and face that has_material_basis_in heterozygous mutation in the IVNS1ABP gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32499645/ "DO"] synonym: "IMD70" EXACT [] xref: MIM:618969 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112006 name: immunodeficiency 69 def: "A T cell and NK cell immunodeficiency characterized by increased susceptibility to disseminated mycobacterial infection and failure of T and NK cells to produce gamma-interferon when stimulated in vitro that has_material_basis_in homozygous or compound heterozygous mutation in the IFNG gene on chromosome 12q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32163377/ "DO"] synonym: "IFNG deficiency, autosomal recessive" EXACT [] synonym: "IMD69" EXACT [] synonym: "immunodeficiency 69, mycobacteriosis" EXACT [] synonym: "immunodeficiency 69, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:618963 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080710 ! T cell and NK cell immunodeficiency is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112007 name: growth hormone secreting pituitary adenoma 2 def: "A growth hormone secreting pituitary adenoma characterized by adult-onset sporadic acromegaly and somatic somatotropinoma that has_material_basis_in mutation in the GPR101 gene on chromosome Xq26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25470569/ "DO", https://pubmed.ncbi.nlm.nih.gov/25806920/ "DO"] synonym: "ACROMEGALY DUE TO PITUITARY ADENOMA 2" EXACT [] synonym: "GH-secreting pituitary adenoma 2" EXACT [] synonym: "PAGH2" EXACT [] synonym: "PITA2" EXACT [] synonym: "X-linked acromegaly" EXACT [] xref: MIM:300943 is_a: DOID:6255 ! growth hormone secreting pituitary adenoma created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112008 name: pituitary adenoma 5 def: "A pituitary adenoma characterized by development of different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in the CDH23 gene on chromosome 10q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28413019/ "DO"] synonym: "PITA5" EXACT [] synonym: "pituitary adenoma 5, multiple types" EXACT [] xref: MIM:617540 is_a: DOID:3829 ! pituitary adenoma created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112009 name: pituitary adenoma 1 def: "A pituitary adenoma characterized by different types of familial or sporadic pituitary adenomas that has_material_basis_in heterozygous mutation in AIP on chromosome 11q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16728643/ "DO", https://pubmed.ncbi.nlm.nih.gov/17360484/ "DO"] synonym: "PITA1" EXACT [] synonym: "pituitary adenoma 1, multiple types" EXACT [] synonym: "PITUITARY ADENOMA PREDISPOSITION" RELATED [] xref: MIM:102200 is_a: DOID:3829 ! pituitary adenoma created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112010 name: pituitary adenoma 3 def: "A pituitary adenoma characterized by development of predominantly GH-secreting pituitary adenomas but also in some patients ACTH-secreting adenomas that has_material_basis_in somatic mutation in the GNAS gene on chromosome 20q13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28766057/ "DO", https://pubmed.ncbi.nlm.nih.gov/9589663/ "DO"] synonym: "PITA3" EXACT [] synonym: "pituitary adenoma 3, multiple types" EXACT [] synonym: "pituitary adenoma 3, multiple types, somatic" NARROW [] xref: MIM:617686 xref: MONDO:0054665 is_a: DOID:3829 ! pituitary adenoma created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112011 name: mutilating palmoplantar keratoderma with periorificial keratotic plaques def: "A keratosis characterized by a bilateral mutilating palmoplantar keratoderma and periorificial keratotic plaques with severe pruritus of lesions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16227106/ "DO", https://pubmed.ncbi.nlm.nih.gov/17367233/ "DO", https://pubmed.ncbi.nlm.nih.gov/22405088/ "DO"] synonym: "mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques" EXACT [] synonym: "OLMS" EXACT [] synonym: "Olmsted syndrome" EXACT [] synonym: "palmoplantar and periorificial keratoderma" EXACT [] xref: GARD:4075 xref: MIM:PS614594 xref: ORDO:659 is_a: DOID:3390 ! palmoplantar keratosis created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112012 name: X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques def: "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in hemizygous mutation in the MBTPS2 gene on chromosome Xp22.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17367233/ "DO", https://pubmed.ncbi.nlm.nih.gov/24313295/ "DO"] synonym: "OLMSX" EXACT [] synonym: "PPKMX" EXACT [] synonym: "X-linked Olmsted syndrome" EXACT [] xref: MIM:300918 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112013 name: autosomal dominant mutilating palmoplantar keratoderma with periorificial keratotic plaques def: "A mutilating palmoplantar keratoderma with periorificial keratotic plaques that has_material_basis_in heterozygous mutation in the TRPV3 gene on chromosome 17p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22405088/ "DO", https://pubmed.ncbi.nlm.nih.gov/24452206/ "DO"] synonym: "autosomal dominant Olmsted syndrome" EXACT [] synonym: "mutilating palmoplantar keratoderma with periorificial keratotic plaques 1" EXACT [] synonym: "OLMS1" EXACT [] synonym: "Olmsted syndrome 1" EXACT [] synonym: "PPKM1" EXACT [] xref: MIM:614594 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:0112014 name: congenital megabladder def: "A bladder disease characterized by a massively dilated urinary bladder with disruption of the smooth muscle in the wall of the bladder that has_material_basis_in heterozygous mutation in the MYOCD gene on chromosome 17p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31513549/ "DO"] synonym: "MGBL" EXACT [] xref: EFO:0010655 xref: MIM:618719 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080015 ! physical disorder is_a: DOID:365 ! bladder disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112015 name: immunodeficiency 72 def: "A combined immunodeficiency characterized by onset in the first year of life of recurrent infections or systemic inflammation, increased susceptibility to bacterial and viral infections, development of atopy or allergies, hepatosplenomegaly, lymphoproliferation and variable immune cell abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the NCKAP1L gene on chromosome 12q13.1-q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32647003/ "DO"] synonym: "IMD72" EXACT [] synonym: "immunodeficiency 72 with autoinflammation" EXACT [] synonym: "immunodeficiency 72 with autoinflammation and lymphoproliferation" EXACT [] xref: MIM:618982 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2019-03-27T09:05:18Z [Term] id: DOID:0112016 name: non-syndromic X-linked intellectual disability 2 alt_id: MIM:300428 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males and mild intellectual disability in females, in addition males are relatively short with a large head and have a highly arched palate, square face, prominent ears, and large testicular volumes that has_material_basis_in hemizygous or heterozygous mutation in a region on chromosome Xp22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2602357/ "DO", https://pubmed.ncbi.nlm.nih.gov/6839531/ "DO"] synonym: "MRX2" EXACT [] synonym: "XLID2" EXACT [] synonym: "X-linked intellectual developmental disorder 2" EXACT [] synonym: "X-linked mental retardation 2" EXACT [] xref: MESH:C563135 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112017 name: non-syndromic X-linked intellectual disability 73 alt_id: MIM:300355 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability in males that has_material_basis_in hemizygous mutation in a region on chromosome Xp22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11477616/ "DO"] synonym: "MRX73" EXACT [] synonym: "XLID73" EXACT [] synonym: "X-linked intellectual developmental disorder 73" EXACT [] synonym: "X-linked mental retardation 73" EXACT [] xref: MESH:C564528 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112018 name: non-syndromic X-linked intellectual disability 104 def: "A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25644381/ "DO"] synonym: "FRMPD4-RELATED CONDITION" EXACT [] synonym: "MRX104" EXACT [] synonym: "XLID104" EXACT [] synonym: "X-linked intellectual developmental disorder 104" EXACT [] synonym: "X-linked mental retardation 104" EXACT [] xref: MIM:300983 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: slaulede creation_date: 2018-07-10T17:47:59Z [Term] id: DOID:0112019 name: non-syndromic X-linked intellectual disability 19 alt_id: MIM:300844 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous or heterozygous mutation in the RPS6KA3 gene on chromosome Xp22.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17100996/ "DO"] synonym: "MRX19" EXACT [] synonym: "XLID19" EXACT [] synonym: "X-linked intellectual developmental disorder 19" EXACT [] synonym: "X-linked mental retardation 19" EXACT [] xref: MESH:C563141 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112020 name: non-syndromic X-linked intellectual disability 103 def: "A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24817631/ "DO", https://pubmed.ncbi.nlm.nih.gov/25644381/ "DO"] synonym: "MRX103" EXACT [] synonym: "XLID103" EXACT [] synonym: "X-linked intellectual developmental disorder 103" EXACT [] synonym: "X-linked mental retardation 103" EXACT [] xref: MIM:300982 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112021 name: non-syndromic X-linked intellectual disability ARX-related alt_id: MESH:C564502 alt_id: MIM:300419 def: "A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10398246/ "DO", https://pubmed.ncbi.nlm.nih.gov/17480217/ "DO"] synonym: "ARX-related intellectual disability" EXACT [] synonym: "MRX29" EXACT [] synonym: "MRX32" EXACT [] synonym: "MRX33" EXACT [] synonym: "MRX38" EXACT [] synonym: "MRX43" EXACT [] synonym: "MRX52" EXACT [] synonym: "MRX54" EXACT [] synonym: "MRX76" EXACT [] synonym: "MRX87" EXACT [] synonym: "MRXARX" EXACT [] synonym: "XLID29" EXACT [] synonym: "X-linked intellectual developmental disorder 29" EXACT [] synonym: "X-linked mental retardation 29" EXACT [] synonym: "X-linked mental retardation 29 and others" EXACT [] synonym: "X-linked mental retardation 32" EXACT [] synonym: "X-linked mental retardation 33" EXACT [] synonym: "X-linked mental retardation 38" EXACT [] synonym: "X-linked mental retardation 43" EXACT [] synonym: "X-linked mental retardation 52" EXACT [] synonym: "X-linked mental retardation 54" EXACT [] synonym: "X-linked mental retardation 76" EXACT [] synonym: "X-linked mental retardation 87" EXACT [] synonym: "X-linked mental retardation with or without seizures, ARX-related" EXACT [] xref: GARD:5614 xref: MESH:C563150 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112022 name: non-syndromic X-linked intellectual disability 21 def: "A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18801879/ "DO"] synonym: "IL1RAPL1-related condition" BROAD [] synonym: "IL1RAPL1-related disorder" BROAD [] synonym: "MRX21" EXACT [] synonym: "MRX34" EXACT [] synonym: "XLID21" EXACT [] synonym: "X-linked intellectual developmental disorder 21" EXACT [] synonym: "X-linked mental retardation 21" EXACT [] synonym: "X-linked mental retardation 21/34" EXACT [] synonym: "X-linked mental retardation 34" EXACT [] xref: MESH:C563148 xref: MIM:300143 xref: MONDO:0010256 xref: NCI:C179707 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112023 name: non-syndromic X-linked intellectual disability 20 alt_id: MIM:300047 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11-q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7573127/ "DO"] synonym: "MRX20" EXACT [] synonym: "XLID20" EXACT [] synonym: "X-linked intellectual developmental disorder 20" EXACT [] synonym: "X-linked mental retardation 20" EXACT [] xref: MESH:C563142 xref: MONDO:0010231 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112024 name: non-syndromic X-linked intellectual disability 58 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10449641/ "DO", https://pubmed.ncbi.nlm.nih.gov/12070254/ "DO"] synonym: "MRX58" EXACT [] synonym: "XLID58" EXACT [] synonym: "X-linked intellectual developmental disorder 58" EXACT [] synonym: "X-linked mental retardation 58" EXACT [] xref: MESH:C564566 xref: MIM:300210 xref: MONDO:0010266 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112025 name: female-restricted syndromic X-linked intellectual disability 99 def: "A syndromic X-linked intellectual disability characterized by delayed psychomotor development, mild to moderate intellectual disability, and a wide range of additional congenital anomalies that has_material_basis_in heterozygous mutation in the USP9X gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26833328/ "DO"] synonym: "MRXS99F" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 99, female-restricted" EXACT [] synonym: "syndromic X-linked mental retardation 99, female-restricted" EXACT [] synonym: "USP9X-RELATED CONDITION" BROAD [] synonym: "USP9X RELATED DISORDER" BROAD [] synonym: "USP9X-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability" EXACT [] xref: GARD:13638 xref: MIM:300968 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: gthayman creation_date: 2019-03-12T12:06:46Z [Term] id: DOID:0112026 name: non-syndromic X-linked intellectual disability 99 def: "A non-syndromic X-linked intellectual disability characterized by developmental delay, hypotonia, and variable behavioral abnormalities that has_material_basis_in hemizygous mutation in the USP9X gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24607389/ "DO"] synonym: "MRX99" EXACT [] synonym: "USP9X-RELATED CONDITION" BROAD [] synonym: "USP9X RELATED DISORDER" BROAD [] synonym: "USP9X-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "XLID99" EXACT [] synonym: "X-linked intellectual developmental disorder 99" EXACT [] synonym: "X-linked mental retardation 99" EXACT [] xref: MIM:300919 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112027 name: non-syndromic X-linked intellectual disability 14 alt_id: MIM:300062 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and impaired speech that has_material_basis_in mutation in a region on chromosome Xp11.3-q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8026106/ "DO"] synonym: "MRX14" EXACT [] synonym: "XLID14" EXACT [] synonym: "X-linked intellectual developmental disorder 14" EXACT [] synonym: "X-linked mental retardation 14" EXACT [] synonym: "X-linked mental retardation, nonspecific, type 14" EXACT [] xref: GARD:8557 xref: MESH:C537454 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2019-12-30T09:42:48Z [Term] id: DOID:0112028 name: non-syndromic X-linked intellectual disability 45 alt_id: MIM:300498 def: "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability during childhood, large and simple ears, relatively large hands, and normal behavior that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10398246/ "DO"] synonym: "INTELLECTUAL DISABILITY, X-LINKED 45" EXACT [] synonym: "MRX45" EXACT [] synonym: "XLID45" EXACT [] synonym: "X-linked intellectual developmental disorder 45" EXACT [] synonym: "X-linked mental retardation 45" EXACT [] xref: MESH:C564503 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112029 name: non-syndromic X-linked intellectual disability 50 alt_id: MIM:300115 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xp11.3-p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9415477/ "DO"] synonym: "MRX50" EXACT [] synonym: "XLID50" EXACT [] synonym: "X-linked intellectual developmental disorder 50" EXACT [] synonym: "X-linked mental retardation 50" EXACT [] xref: MESH:C564713 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112030 name: non-syndromic X-linked intellectual disability 84 alt_id: MIM:300505 def: "A non-syndromic X-linked intellectual disability characterized by nonspecific intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3-q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15326629/ "DO"] synonym: "MRX84" EXACT [] synonym: "XLID84" EXACT [] synonym: "X-linked intellectual developmental disorder 84" EXACT [] synonym: "X-linked mental retardation 84" EXACT [] xref: MESH:C564501 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112031 name: non-syndromic X-linked intellectual disability 89 alt_id: MIM:300848 def: "A non-syndromic X-linked intellectual disability characterized by severe developmental delay that has_material_basis_in heterozygous mutation in a region on chromosome Xp11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14628291/ "DO", https://pubmed.ncbi.nlm.nih.gov/23871722/ "DO"] synonym: "MRX89" EXACT [] synonym: "XLID89" EXACT [] synonym: "X-linked intellectual developmental disorder 89" EXACT [] synonym: "X-linked mental retardation 89" EXACT [] xref: MESH:C564036 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112032 name: non-syndromic X-linked intellectual disability 92 alt_id: MIM:300851 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16385466/ "DO", https://pubmed.ncbi.nlm.nih.gov/23871722/ "DO"] synonym: "MRX92" EXACT [] synonym: "XLID92" EXACT [] synonym: "X-linked intellectual developmental disorder 92" EXACT [] synonym: "X-linked mental retardation 92" EXACT [] xref: MESH:C564483 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2019-03-27T10:37:08Z [Term] id: DOID:0112033 name: non-syndromic X-linked intellectual disability 81 alt_id: MIM:300433 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xp11.2-q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12673650/ "DO"] synonym: "MRX81" EXACT [] synonym: "XLID81" EXACT [] synonym: "X-linked intellectual developmental disorder 81" EXACT [] synonym: "X-linked mental retardation 81" EXACT [] xref: MESH:C564515 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112034 name: non-syndromic X-linked intellectual disability 9 alt_id: MIM:309549 def: "A non-syndromic X-linked intellectual disability characterized by nonprogressive intellectual disability that has_material_basis_in hemizygous mutation in the FTSJ1 gene on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10398246/ "DO", https://pubmed.ncbi.nlm.nih.gov/15162322/ "DO"] synonym: "MRX44" EXACT [] synonym: "MRX9" EXACT [] synonym: "XLID9" EXACT [] synonym: "X-linked intellectual developmental disorder 9" EXACT [] synonym: "X-linked mental retardation 44" EXACT [] synonym: "X-linked mental retardation 9" EXACT [] xref: MESH:C563137 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:0112035 name: non-syndromic X-linked intellectual disability 96 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disabillity that has_material_basis_in hemizygous mutation in SYP on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19377476/ "DO"] synonym: "MRX96" EXACT [] synonym: "XLID96" EXACT [] synonym: "X-linked intellectual developmental disorder 96" EXACT [] synonym: "X-linked mental retardation 96" EXACT [] xref: MIM:300802 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112036 name: non-syndromic X-linked intellectual disability 105 def: "A non-syndromic X-linked intellectual disability characterized by borderline to moderate intellectual disability, variable poor or absent speech, and behavioral problems that has_material_basis_in hemizygous mutation in the USP27X gene on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25644381/ "DO"] synonym: "MRX105" EXACT [] synonym: "XLID105" EXACT [] synonym: "X-linked intellectual developmental disorder 105" EXACT [] synonym: "X-linked mental retardation 105" EXACT [] xref: MIM:300984 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112037 name: chromosome Xp11.22 duplication syndrome alt_id: MESH:C563140 alt_id: MESH:C563147 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability and slow speech development that has_material_basis_in duplication of a small region within chromosome Xp11.22 involving both the HSD17B10 and HUWE1 genes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22840365/ "DO", https://pubmed.ncbi.nlm.nih.gov/7943039/ "DO"] synonym: "HUWE1-RELATED DISORDER" BROAD [] synonym: "HUWE1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] synonym: "MRX17" EXACT [] synonym: "MRX31" EXACT [] synonym: "X-linked mental retardation 17" EXACT [] synonym: "X-linked mental retardation 31" EXACT [] synonym: "Xp11.22 microduplication syndrome" EXACT [] xref: MIM:300705 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112038 name: non-syndromic X-linked intellectual disability 1 alt_id: MESH:C564489 alt_id: MIM:309530 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20473311/ "DO", https://pubmed.ncbi.nlm.nih.gov/3177466/ "DO"] synonym: "MRX" EXACT [] synonym: "MRX1" EXACT [] synonym: "MRX18" EXACT [] synonym: "MRX78" EXACT [] synonym: "XLID1" EXACT [] synonym: "X-linked intellectual developmental disorder 1" EXACT [] synonym: "X-linked mental retardation 1" EXACT [] synonym: "X-linked mental retardation 1/78" EXACT [] synonym: "X-linked mental retardation 18" EXACT [] synonym: "X-linked mental retardation 78" EXACT [] xref: GARD:13221 xref: MESH:C567906 xref: NCI:C133729 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112039 name: non-syndromic X-linked intellectual disability 77 alt_id: MIM:300454 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability, severe speech problems and aggressive behavior that has_material_basis_in hemizygous mutation in a region on chromosome Xq12-q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12949971/ "DO"] synonym: "MRX77" EXACT [] synonym: "XLID77" EXACT [] synonym: "X-linked intellectual developmental disorder 77" EXACT [] synonym: "X-linked mental retardation 77" EXACT [] xref: MESH:C564511 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112040 name: non-syndromic X-linked intellectual disability 100 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24812067/ "DO"] synonym: "INTELLECTUAL DISABILITY, X-LINKED 100" EXACT [] synonym: "KIF4A-RELATED CONDITION" BROAD [] synonym: "MRX100" EXACT [] synonym: "XLID100" EXACT [] synonym: "X-linked intellectual developmental disorder 100" EXACT [] synonym: "X-linked mental retardation 100" EXACT [] xref: MIM:300923 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112041 name: non-syndromic X-linked intellectual disability 90 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the DLG3 gene on chromosome Xq13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15185169/ "DO"] synonym: "DLG3-RELATED CONDITION" EXACT [] synonym: "DLG3-related disorder" EXACT [] synonym: "MRX90" EXACT [] synonym: "XLID90" EXACT [] synonym: "X-linked intellectual developmental disorder 90" EXACT [] synonym: "X-linked mental retardation 90" EXACT [] xref: MIM:300850 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112042 name: Tonne-Kalscheuer syndrome def: "A syndromic X-linked intellectual disability characterized by global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities in most patients and variable congenital anomalies in some patients that has_material_basis_in mutation in the RLIM gene on chromosome Xq13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25735484/ "DO", https://pubmed.ncbi.nlm.nih.gov/29728705/ "DO"] synonym: "intellectual developmental disorder with or without hand and foot anomalies, genital anomalies, or congenital diaphragmatic hernia" EXACT [] synonym: "MRX61" EXACT [] synonym: "RLIM-RELATED SYNDROMIC INTELLECTUAL DISABILITY" EXACT [] synonym: "TOKAS" EXACT [] synonym: "X-linked mental retardation 61" EXACT [] xref: MIM:300978 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: gthayman creation_date: 2019-04-19T12:03:39Z [Term] id: DOID:0112043 name: non-syndromic X-linked intellectual disability 91 alt_id: MIM:300577 def: "A non-syndromic X-linked intellectual disability characterized by severe intellectual disability that has_material_basis_in heterozygous mutation in a region on chromosome Xq13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15915161/ "DO"] synonym: "MRX91" EXACT [] synonym: "XLID91" EXACT [] synonym: "X-linked intellectual developmental disorder 91" EXACT [] synonym: "X-linked intellectual disability 91" EXACT [] synonym: "X-linked mental retardation 91" EXACT [] xref: MESH:C564482 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: slaulede creation_date: 2018-11-09T10:26:28Z [Term] id: DOID:0112044 name: non-syndromic X-linked intellectual disability 98 def: "A non-syndromic X-linked intellectual disability characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures, with males generally more severely affected than females that has_material_basis_in heterozygous or hemizygous mutation in NEXMIF on chromosome Xq13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23615299/ "DO", https://pubmed.ncbi.nlm.nih.gov/27358180/ "DO"] synonym: "MRX98" EXACT [] synonym: "NEXMIF-RELATED CONDITION" EXACT [] synonym: "XLID98" EXACT [] synonym: "X-linked intellectual developmental disorder 98" EXACT [] synonym: "X-linked mental retardation 98" EXACT [] xref: MIM:300912 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112045 name: non-syndromic X-linked intellectual disability 93 alt_id: MIM:300659 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17668385/ "DO"] synonym: "BRWD3-RELATED DISORDER" EXACT [] synonym: "MRX93" EXACT [] synonym: "XLID93" EXACT [] synonym: "X-linked intellectual developmental disorder 93" EXACT [] synonym: "X-linked mental retardation 93" EXACT [] synonym: "X-linked mental retardation with macrocephaly" EXACT [] xref: MESH:C567066 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9003816 ! Macrocephaly created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112046 name: non-syndromic X-linked intellectual disability 97 alt_id: MIM:300803 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability with speech delay that has_material_basis_in mutation in the ZNF711 gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10398247/ "DO", https://pubmed.ncbi.nlm.nih.gov/27993705/ "DO"] synonym: "MRX65" EXACT [] synonym: "MRX97" EXACT [] synonym: "MRXZ" EXACT [] synonym: "nonsyndromic X-linked intellectual developmental disorder 97" EXACT [] synonym: "XLID97" EXACT [] synonym: "X-linked intellectual developmental disorder 97" EXACT [] synonym: "X-linked mental retardation 65" EXACT [] synonym: "X-linked mental retardation 97" EXACT [] synonym: "X-linked mental retardation, ZNF711-related" EXACT [] xref: MESH:C567583 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2019-03-21T11:40:37Z [Term] id: DOID:0112047 name: non-syndromic X-linked intellectual disability 53 alt_id: MIM:300324 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq22.2-q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11337751/ "DO"] synonym: "MRX53" EXACT [] synonym: "XLID53" EXACT [] synonym: "X-linked intellectual developmental disorder 53" EXACT [] synonym: "X-linked mental retardation 53" EXACT [] xref: MESH:C564533 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-06-16T12:44:21Z [Term] id: DOID:0112048 name: non-syndromic X-linked intellectual disability 101 def: "A non-syndromic X-linked intellectual disability characterized by global developmental delay that has_material_basis_in hemizygous mutation in the MID2 gene on chromosome Xq22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24115387/ "DO"] synonym: "INTELLECTUAL DISABILITY, X-LINKED 101" EXACT [] synonym: "MRX101" EXACT [] synonym: "XLID101" EXACT [] synonym: "X-linked intellectual developmental disorder 101" EXACT [] synonym: "X-linked mental retardation 101" EXACT [] xref: MIM:300928 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112049 name: non-syndromic X-linked intellectual disability 23 alt_id: MIM:300046 def: "A non-syndromic X-linked intellectual disability characterized by decreased verbal but not performance IQs that has_material_basis_in mutation in a region on chromosome Xq23-q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/6711606/ "DO", https://pubmed.ncbi.nlm.nih.gov/8852668/ "DO"] synonym: "MRX23" EXACT [] synonym: "XLID23" EXACT [] synonym: "X-linked intellectual developmental disorder 23" EXACT [] synonym: "X-linked mental retardation 23" EXACT [] xref: MESH:C563144 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112050 name: non-syndromic X-linked intellectual disability 63 alt_id: MIM:300387 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10854107/ "DO", https://pubmed.ncbi.nlm.nih.gov/11889465/ "DO"] synonym: "ACSL4-RELATED CONDITION" EXACT [] synonym: "ACSL4-related intellectual disability" EXACT [] synonym: "MRX63" EXACT [] synonym: "MRX68" EXACT [] synonym: "XLID63" EXACT [] synonym: "X-linked intellectual developmental disorder 63" EXACT [] synonym: "X-linked mental retardation 63" EXACT [] synonym: "X-linked mental retardation 68" EXACT [] xref: GARD:5613 xref: MESH:C564522 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-08-03T12:10:30Z [Term] id: DOID:0112051 name: non-syndromic X-linked intellectual disability 30 alt_id: MESH:C563151 alt_id: MIM:300558 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in hemizygous mutation in the PAK3 gene on chromosome Xq23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10946356/ "DO", https://pubmed.ncbi.nlm.nih.gov/9332663/ "DO", https://pubmed.ncbi.nlm.nih.gov/9731525/ "DO"] synonym: "MRX30" EXACT [] synonym: "MRX47" EXACT [] synonym: "XLID30" EXACT [] synonym: "X-linked intellectual developmental disorder 30" EXACT [] synonym: "X-linked mental retardation 30" EXACT [] synonym: "X-linked mental retardation 30/47" EXACT [] synonym: "X-linked mental retardation 47" EXACT [] xref: MESH:C563146 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112052 name: non-syndromic X-linked intellectual disability 82 alt_id: MIM:300518 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in a region on chromosome Xq24-q25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15526294/ "DO"] synonym: "MRX82" EXACT [] synonym: "XLID82" EXACT [] synonym: "X-linked impaired intellectual development 82" EXACT [] synonym: "X-linked intellectual developmental disorder 82" EXACT [] synonym: "X-linked mental retardation 82" EXACT [] xref: MESH:C564496 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112053 name: non-syndromic X-linked intellectual disability 88 def: "A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability that has_material_basis_in mutation in a region on chromosome Xq24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12089445/ "DO", https://pubmed.ncbi.nlm.nih.gov/23871722/ "DO"] synonym: "MRX88" EXACT [] synonym: "XLID88" EXACT [] synonym: "X-linked intellectual developmental disorder 88" EXACT [] synonym: "X-linked mental retardation 88" EXACT [] xref: MIM:300852 xref: MONDO:0010454 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112054 name: non-syndromic X-linked intellectual disability 107 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous or hemizygous mutation in CXorf56 on chromosome Xq24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29374277/ "DO"] synonym: "MRX107" EXACT [] synonym: "XLID107" EXACT [] synonym: "X-linked intellectual developmental disorder 107" EXACT [] synonym: "X-linked mental retardation 107" EXACT [] xref: MIM:301013 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:0112055 name: non-syndromic X-linked intellectual disability 46 alt_id: MIM:300436 def: "A non-syndromic X-linked intellectual disability characterized by moderate intellectual disability in most patients that has_material_basis_in hemizygous mutation in a region on chromosome Xq25-q26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9783701/ "DO"] synonym: "ARHGEF6-RELATED CONDITION" BROAD [] synonym: "INTELLECTUAL DISABILITY, X-LINKED 46" EXACT [] synonym: "MRX46" EXACT [] synonym: "XLID46" EXACT [] synonym: "X-linked intellectual developmental disorder 46" EXACT [] synonym: "X-linked mental retardation 46" EXACT [] xref: MESH:C564513 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: slaulede creation_date: 2019-01-14T17:54:12Z [Term] id: DOID:0112056 name: X-linked intellectual disability-short stature-overweight syndrome def: "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability often associated with speech delay, short stature, elevated body mass index, and a truncal obesity pattern in older males that has_material_basis_in hemizygous mutation in the THOC2 gene on chromosome Xq25. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26166480/ "DO"] synonym: "intellectual developmental disorder, X-linked syndromic, Kumar type" EXACT [] synonym: "MRX12" EXACT [] synonym: "MRX35" EXACT [] synonym: "MRXSK" EXACT [] synonym: "XLID12" EXACT [] synonym: "X-linked intellectual developmental disorder 12" EXACT [] synonym: "X-linked mental retardation 12" EXACT [] synonym: "X-linked mental retardation 35" EXACT [] xref: MIM:300957 xref: MONDO:0010496 xref: ORDO:457240 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112057 name: non-syndromic X-linked intellectual disability 42 alt_id: MIM:300372 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in mutation in a region on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11807862/ "DO"] synonym: "MRX42" EXACT [] synonym: "XLID42" EXACT [] synonym: "X-linked intellectual developmental disorder 42" EXACT [] synonym: "X-linked mental retardation 42" EXACT [] xref: MESH:C564524 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112058 name: non-syndromic X-linked intellectual disability 41 def: "A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GDI1 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8826463/ "DO", https://pubmed.ncbi.nlm.nih.gov/9106537/ "DO", https://pubmed.ncbi.nlm.nih.gov/9620768/ "DO"] synonym: "MRX41" EXACT [] synonym: "MRX48" EXACT [] synonym: "XLID41" EXACT [] synonym: "X-linked intellectual developmental disorder 41" EXACT [] synonym: "X-linked mental retardation 41" EXACT [] synonym: "X-linked mental retardation 48" EXACT [] xref: MIM:300849 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-09-28T00:00:00Z [Term] id: DOID:0112059 name: non-syndromic X-linked intellectual disability 72 alt_id: MIM:300271 def: "A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in the RAB39B gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11050621/ "DO", https://pubmed.ncbi.nlm.nih.gov/20159109/ "DO"] synonym: "MRX72" EXACT [] synonym: "XLID72" EXACT [] synonym: "X-linked intellectual developmental disorder 72" EXACT [] synonym: "X-linked mental retardation 72" EXACT [] xref: MESH:C564547 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-08-03T12:02:41Z [Term] id: DOID:0112060 name: Raynaud-Claes syndrome def: "A syndromic X-linked intellectual disability characterized by borderline to severe intellectual disability, impaired language development, and variable additional features including; behavioral problems, psychiatric disorders, seizures, progressive ataxia, brain abnormalities, and facial dysmorphisms that has_material_basis_in heterozygous or hemizygous mutation in the CLCN4 gene on chromosome Xp22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23647072/ "DO", https://pubmed.ncbi.nlm.nih.gov/27550844/ "DO", https://pubmed.ncbi.nlm.nih.gov/8826458/ "DO", https://pubmed.ncbi.nlm.nih.gov/9415477/ "DO"] synonym: "CLCN4-RELATED DISORDER" EXACT [] synonym: "CLCN4-RELATED X-LINKED INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "mental retardation, X-linked 15" EXACT [] synonym: "mental retardation, X-linked 49" EXACT [] synonym: "mental retardation, X-linked 49/15" EXACT [] synonym: "MRX15" EXACT [] synonym: "MRX49" EXACT [] synonym: "MRXSRC" EXACT [] xref: EFO:0009066 xref: MIM:300114 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080009 ! X-linked dominant disease created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112061 name: immunodeficiency 73b with defective neutrophil chemotaxis and lymphopenia def: "A combined immunodeficiency characterized by onset of recurrent infections in infancy or early childhood and variable immune system abnormalities including B- and T-cell lymphopenia, decreased immunoglobulin subsets, decreased TCR excision circles and dysfunctional T cells, decreased NK cells, neutropenia, and impaired neutrophil chemotaxis that has_material_basis_in heterozygous gain-of-function mutation in the RAC2 gene on chromosome 22q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30723080/ "DO", https://pubmed.ncbi.nlm.nih.gov/32542921/ "DO"] synonym: "IMD73B" EXACT [] synonym: "Immunodeficiency 73B" EXACT [] xref: MIM:618986 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112062 name: immunodeficiency 73c with defective neutrophil chemotaxis and hypogammaglobulinemia def: "A combined immunodeficiency characterized by onset of recurrent infection in early childhood, impaired neutrophil chemotaxis, decreased B cells, hypogammaglobulinemia, and other variable features that has_material_basis_in homozygous or compound heterozygous mutation in the RAC2 gene on chromosome 22q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25512081/ "DO"] synonym: "IMD73C" EXACT [] synonym: "immunodeficiency 73C" EXACT [] xref: MIM:618987 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112063 name: X-Linked immunodeficiency 74 def: "A T cell deficiency characterized by severe respiratory insufficiency in response to infection with the COVID19 coronavirus and impaired signaling through the TLR7 pathway that has_material_basis_in hemizygous mutation in the TLR7 gene on chromosome Xp22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32706371/ "DO"] synonym: "COVID19-related immunodeficiency-74, X-linked" EXACT [] synonym: "IMD74" EXACT [] synonym: "Immunodeficiency 74" EXACT [] synonym: "Immunodeficiency 74, COVID19-related" EXACT [] synonym: "respiratory insufficiency due to SARS-CoV-2 viral infection" EXACT [] synonym: "TLR7 deficiency" EXACT [] synonym: "X-linked immunodeficiency 74,COVID-19-related" EXACT [] xref: MIM:301051 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080600 ! COVID-19 is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112064 name: immunodeficiency 73a with defective neutrophil chemotaxis and leukocytosis alt_id: MIM:608203 def: "A combined immunodeficiency characterized by onset of recurrent infections in early infancy, leukocytosis, neutrophilia, decreased TCR excision circles, decreased neutrophil chemotaxis, and T-cell abnormalities that has_material_basis_in heterozygous loss of function mutation in the RAC2 gene on chromosome 22q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21167572/ "DO", https://pubmed.ncbi.nlm.nih.gov/32542921/ "DO"] synonym: "IMD73A" EXACT [] synonym: "neutrophil immunodeficiency syndrome" EXACT [] xref: MESH:C564275 xref: ORDO:183707 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0111962 ! combined immunodeficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112065 name: nuclear type mitochondrial complex I deficiency def: "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the nuclear genome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22644603/ "DO", https://pubmed.ncbi.nlm.nih.gov/22972949/ "DO"] synonym: "MC1DN" EXACT [] xref: MIM:PS252010 is_a: DOID:0060536 ! mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112066 name: nuclear type mitochondrial complex I deficiency 6 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11220739/ "DO"] synonym: "MC1DN6" EXACT [] xref: MIM:618228 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112067 name: nuclear type mitochondrial complex I deficiency 25 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous and compound heterozygous mutation in the NDUFB3 gene on chromosome 2q33.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22277967/ "DO"] synonym: "MC1DN25" EXACT [] xref: MIM:618246 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112068 name: nuclear type mitochondrial complex I deficiency 5 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS1 gene on chromosome 2q33.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11349233/ "DO"] synonym: "MC1DN5" EXACT [] synonym: "NDUFS1-RELATED CONDITION" EXACT [] xref: MIM:618226 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112069 name: nuclear type mitochondrial complex I deficiency 22 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA10 gene on chromosome 2q37.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21150889/ "DO"] synonym: "MC1DN22" EXACT [] xref: MIM:618243 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112070 name: nuclear type mitochondrial complex I deficiency 18 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF3 gene on chromosome 2p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19463981/ "DO"] synonym: "MC1DN18" EXACT [] xref: MIM:618240 xref: MONDO:0032623 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112071 name: nuclear type mitochondrial complex I deficiency 31 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMMDC1 gene on chromosome 3q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28604674/ "DO"] synonym: "MC1DN31" EXACT [] xref: MIM:618251 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112072 name: nuclear type mitochondrial complex I deficiency 20 alt_id: MIM:611126 def: "A nuclear type mitochondrial complex I deficiency characterized by infantile onset of acute metabolic acidosis, hypertrophic cardiomyopathy, and muscle weakness associated with deficiency of mitochondrial complex I activity in muscle, liver, and fibroblasts that has_material_basis_in homozygous or compound heterozygous mutation in the ACAD9 gene on chromosome 3q21.3. (DO)" [https://ghr.nlm.nih.gov/condition/acad9-deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/17564966/ "DO", https://pubmed.ncbi.nlm.nih.gov/21057504/ "DO"] synonym: "ACAD9 deficiency" EXACT [] synonym: "ACAD9-RELATED CONDITION" EXACT [] synonym: "Acyl-CoA dehydrogenase 9 deficiency" EXACT [] synonym: "deficiency of acyl-CoA dehydrogenase family, member 9" EXACT [] synonym: "MC1DN20" EXACT [] synonym: "mitochondrial complex 1 deficiency due to ACAD9 deficiency" EXACT [] synonym: "mitochondrial complex I deficiency due to ACAD9 deficiency" EXACT [] xref: MESH:C567006 xref: ORDO:99901 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency is_a: DOID:11984 ! hypertrophic cardiomyopathy is_a: DOID:9002802 ! Acidoses is_a: DOID:9005532 ! Muscle Weakness is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112073 name: nuclear type mitochondrial complex I deficiency 9 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS6 gene on chromosome 5p15.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15372108/ "DO"] synonym: "MC1DN9" EXACT [] xref: MIM:618232 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112074 name: nuclear type mitochondrial complex I deficiency 1 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS4 gene on chromosome 5q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10330338/ "DO", https://pubmed.ncbi.nlm.nih.gov/10944442/ "DO"] synonym: "MC1DN1" EXACT [] xref: MIM:252010 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-06-23T10:46:32Z [Term] id: DOID:0112075 name: nuclear type mitochondrial complex I deficiency 10 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF2 gene on chromosome 5q12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16200211/ "DO"] synonym: "MC1DN10" EXACT [] synonym: "NDUFAF2-RELATED DISORDER" EXACT [] xref: MIM:618233 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112076 name: nuclear type mitochondrial complex I deficiency 13 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA2 gene on chromosome 5q31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18513682/ "DO"] synonym: "MC1DN13" EXACT [] xref: MIM:618235 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112077 name: nuclear type mitochondrial complex I deficiency 15 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF4 gene on chromosome 6q16.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18179882/ "DO"] synonym: "MC1DN15" EXACT [] xref: MIM:618237 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112078 name: nuclear type mitochondrial complex I deficiency 17 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF6 gene on chromosome 8q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18614015/ "DO"] synonym: "MC1DN17" EXACT [] xref: MIM:618239 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112079 name: nuclear type mitochondrial complex I deficiency 24 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB9 gene on chromosome 8q24.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22200994/ "DO"] synonym: "MC1DN24" EXACT [] xref: MIM:618245 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112080 name: nuclear type mitochondrial complex I deficiency 32 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB8 gene on chromosome 10q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29429571/ "DO"] synonym: "MC1DN32" EXACT [] xref: MIM:618252 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112081 name: nuclear type mitochondrial complex I deficiency 8 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS3 gene on chromosome 11p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14729820/ "DO"] synonym: "MC1DN8" EXACT [] xref: MIM:618230 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112082 name: nuclear type mitochondrial complex I deficiency 4 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV1 gene on chromosome 11q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10080174/ "DO"] synonym: "MC1DN4" EXACT [] synonym: "NDUFV1-RELATED CONDITION" EXACT [] synonym: "NDUFV1-RELATED DISORDER" EXACT [] synonym: "NDUFV1-RELATED DISORDERS" EXACT [] xref: MIM:618225 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112083 name: nuclear type mitochondrial complex I deficiency 2 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS8 gene on chromosome 11q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9837812/ "DO"] synonym: "MC1DN2" EXACT [] xref: MIM:618222 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: slaulede creation_date: 2018-05-22T18:34:35Z [Term] id: DOID:0112084 name: nuclear type mitochondrial complex I deficiency 29 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM126B gene on chromosome 11q14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27374773/ "DO"] synonym: "MC1DN29" EXACT [] xref: MIM:618250 xref: MONDO:0032633 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112085 name: nuclear type mitochondrial complex I deficiency 19 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the FOXRED1 gene on chromosome 11q24.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20818383/ "DO"] synonym: "MC1DN19" EXACT [] synonym: "mitochondrial complex I deficiency, mitochondrial type 19" RELATED [] xref: MIM:618241 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112086 name: nuclear type mitochondrial complex I deficiency 26 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA9 gene on chromosome 12p13.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22114105/ "DO"] synonym: "MC1DN26" EXACT [] synonym: "NDUFA9-RELATED CONDITION" EXACT [] xref: MIM:618247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112087 name: nuclear type mitochondrial complex I deficiency 23 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA12 gene on chromosome 12q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21617257/ "DO"] synonym: "MC1DN23" EXACT [] xref: MIM:618244 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-16T00:00:00Z [Term] id: DOID:0112088 name: nuclear type mitochondrial complex I deficiency 21 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NUBPL gene on chromosome 14q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20818383/ "DO"] synonym: "MC1DN21" EXACT [] synonym: "NUBPL-RELATED CONDITION" EXACT [] xref: MIM:618242 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112089 name: nuclear type mitochondrial complex I deficiency 11 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF1 gene on chromosome 15q15.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17557076/ "DO"] synonym: "MC1DN11" EXACT [] xref: MIM:618234 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112090 name: nuclear type mitochondrial complex I deficiency 27 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MTFMT gene on chromosome 15q22.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22499348/ "DO"] synonym: "MC1DN27" EXACT [] xref: MIM:618248 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: slaulede creation_date: 2018-10-11T10:50:34Z [Term] id: DOID:0112091 name: nuclear type mitochondrial complex I deficiency 34 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF8 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31866046/ "DO"] synonym: "MC1DN34" EXACT [] xref: MIM:618776 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112092 name: nuclear type mitochondrial complex I deficiency 7 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFV2 gene on chromosome 18p11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12754703/ "DO"] synonym: "MC1DN7" EXACT [] xref: MIM:618229 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112093 name: nuclear type mitochondrial complex I deficiency 3 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFS7 gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10330338/ "DO", https://pubmed.ncbi.nlm.nih.gov/17275378/ "DO"] synonym: "MC1DN3" EXACT [] xref: MIM:618224 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112094 name: nuclear type mitochondrial complex I deficiency 14 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA11 gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18306244/ "DO"] synonym: "MC1DN14" EXACT [] xref: MIM:618236 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112095 name: nuclear type mitochondrial complex I deficiency 28 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA13 gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25901006/ "DO"] synonym: "MC1DN28" EXACT [] xref: MIM:618249 xref: MONDO:0032632 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112096 name: nuclear type mitochondrial complex I deficiency 16 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFAF5 gene on chromosome 20p12.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18940309/ "DO"] synonym: "MC1DN16" EXACT [] xref: MIM:618238 xref: MONDO:0032621 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112097 name: nuclear type mitochondrial complex I deficiency 33 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFA6 gene on chromosome 22q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30245030/ "DO"] synonym: "MC1DN33" EXACT [] xref: MIM:618253 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112098 name: nuclear type mitochondrial complex I deficiency 30 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFB11 gene on chromosome Xp11.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26741492/ "DO"] synonym: "MC1DN30" EXACT [] xref: MIM:301021 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112099 name: nuclear type mitochondrial complex I deficiency 12 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in hemizygous mutation in the NDUFA1 gene on chromosome Xq24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17262856/ "DO"] synonym: "MC1DN12" EXACT [] xref: MIM:301020 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-08-21T00:00:00Z [Term] id: DOID:0112100 name: mitochondrial type mitochondrial complex I deficiency def: "A mitochondrial complex I deficiency that has_material_basis_in mutation in a gene in the mitochondrial genome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22972949/ "DO"] synonym: "MC1DM" EXACT [] is_a: DOID:0060536 ! mitochondrial complex I deficiency created_by: mtutaj creation_date: 2020-10-17T00:00:00Z [Term] id: DOID:0112101 name: mitochondrial type mitochondrial complex I deficiency 1 def: "A mitochondrial type mitochondrial complex I deficiency that has_material_basis_in mutation in MTND3 in the mitochondrial genome. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11456298/ "DO"] synonym: "MC1DM1" EXACT [] xref: MIM:500014 is_a: DOID:0112100 ! mitochondrial type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2019-05-16T09:41:11Z [Term] id: DOID:0112102 name: Sotos syndrome 2 def: "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NFIX gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20673863/ "DO"] synonym: "Malan overgrowth syndrome" EXACT [] synonym: "Malan syndrome" EXACT [] synonym: "MALNS" EXACT [] synonym: "NFIX-RELATED CONDITION" BROAD [] synonym: "SOTOS2" EXACT [] xref: MIM:614753 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14748 ! Sotos syndrome created_by: mtutaj creation_date: 2019-12-30T08:58:21Z [Term] id: DOID:0112103 name: Sotos syndrome 1 def: "A Sotos syndrome that has_material_basis_in heterozygous mutation in the NSD1 gene or deletion in the chromosome region 5q35 that includes the NSD1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11896389/ "DO", https://pubmed.ncbi.nlm.nih.gov/14517949/ "DO"] synonym: "NSD1-RELATED CONDITION" EXACT [] synonym: "SOTOS1" EXACT [] xref: MIM:117550 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14748 ! Sotos syndrome created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112104 name: Sotos syndrome 3 def: "A Sotos syndrome that has_material_basis_in homozygous mutation in the APC2 gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25753423/ "DO"] synonym: "APC2-RELATED CONDITION" BROAD [] synonym: "SOTOS3" EXACT [] xref: MIM:617169 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:14748 ! Sotos syndrome created_by: mtutaj creation_date: 2019-03-19T13:31:16Z [Term] id: DOID:0112105 name: X-linked parkinsonism-spasticity syndrome def: "A movement disease characterized by slowly progressive development of parkinsonian features and variably penetrant spasticity that has_material_basis_in hemizygous mutation in the ATP6AP2 gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20629132/ "DO", https://pubmed.ncbi.nlm.nih.gov/23595882/ "DO"] synonym: "X-linked parkinsonism with spasticity" EXACT [] synonym: "XPDS" EXACT [] xref: MIM:300911 xref: ORDO:363654 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080855 ! Parkinsonism created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112106 name: chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia def: "A syndrome characterized by chondrodysplasia associated with other features including intrauterine growth retardation, hydrocephaly, macrocephaly, frontal bossing, microphthalmia, small low-set ears, and short flat nose that has_material_basis_in heterozygous mutation in the HDAC6 gene on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16001442/ "DO"] synonym: "X-linked dominant chondrodysplasia, Chassaing-Lacombe type" EXACT [] synonym: "X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome" EXACT [] xref: MIM:300863 xref: ORDO:163966 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0080352 ! X-linked chondrodysplasia punctata 2 is_a: DOID:10629 ! microphthalmia is_a: DOID:10908 ! hydrocephalus created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112107 name: McLeod syndrome alt_id: MIM:300842 def: "A neuroacanthocytosis characterized by absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, compensated hemolysis, and involuntary movements that has_material_basis_in mutation in XK on chromosome Xp21.1. (DO)" [https://medlineplus.gov/genetics/condition/mcleod-neuroacanthocytosis-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/17683354/ "DO", https://pubmed.ncbi.nlm.nih.gov/8004674/ "DO"] synonym: "MCLDS" EXACT [] synonym: "McLeod neuroacanthocytosis syndrome" EXACT [] synonym: "McLeod Phenotype" EXACT [] synonym: "McLeod syndrome with chronic granulomatous disease" EXACT [] synonym: "McLeod syndrome with or without chronic granulomatous disease" EXACT [] synonym: "Neuroacanthocytosis, McLeod Type" EXACT [] synonym: "X-linked McLeod syndrome" EXACT [] xref: GARD:10731 xref: MESH:C564038 xref: ORDO:59306 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050765 ! neuroacanthocytosis created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112108 name: myofibrillar myopathy 10 def: "A myofibrillar myopathy characterized by onset of muscle pain, cramping, and exercise fatigue in the first or second decades of life that has_material_basis_in homozygous or compound heterozygous mutation in the SVIL gene on chromosome 10p11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32779703/ "DO"] synonym: "MFM10" EXACT [] xref: MIM:619040 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112109 name: spermatogenic failure 44 def: "A spermatogenic failure characterized by high prevalence of acephalic sperm and reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the CEP112 gene on chromosome 17q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31654588/ "DO"] synonym: "SPGF44" EXACT [] xref: MIM:619044 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112110 name: combined oxidative phosphorylation deficiency 49 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MIEF2 gene on chromosome 17p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29361167/ "DO"] synonym: "COXPD49" EXACT [] xref: MIM:619024 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112111 name: combined oxidative phosphorylation deficiency 50 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS25 gene on chromosome 3p25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31039582/ "DO"] synonym: "COXPD50" EXACT [] xref: MIM:619025 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112112 name: combined oxidative phosphorylation deficiency 48 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NSUN3 gene on chromosome 3q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27356879/ "DO"] synonym: "COXPD48" EXACT [] xref: MIM:619012 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112113 name: combined oxidative phosphorylation deficiency 45 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPL12 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23603806/ "DO"] synonym: "COXPD45" EXACT [] xref: MIM:618951 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112114 name: combined oxidative phosphorylation deficiency 47 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS28 gene on chromosome 8q21.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30566640/ "DO"] synonym: "COXPD47" EXACT [] xref: MIM:618958 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112115 name: combined oxidative phosphorylation deficiency 46 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the MRPS23 gene on chromosome 17q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26741492/ "DO"] synonym: "COXPD46" EXACT [] xref: MIM:618952 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112116 name: combined oxidative phosphorylation deficiency 43 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the TIMM22 gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30452684/ "DO"] synonym: "COXPD43" EXACT [] xref: MIM:618851 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112117 name: combined oxidative phosphorylation deficiency 40 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the QRSL1 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26741492/ "DO"] synonym: "COXPD40" EXACT [] synonym: "QRSL1-related COXPD" EXACT [] xref: MIM:618835 xref: ORDO:570491 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112118 name: combined oxidative phosphorylation deficiency 42 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATC gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30283131/ "DO"] synonym: "COXPD42" EXACT [] xref: MIM:618839 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112119 name: combined oxidative phosphorylation deficiency 41 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GATB gene on chromosome 4q31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30283131/ "DO"] synonym: "COXPD41" EXACT [] xref: MIM:618838 xref: MONDO:0030007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2019-03-20T10:01:07Z [Term] id: DOID:0112120 name: SHOX-related short stature alt_id: MIM:300582 def: "A bone development disease characterized by height below the third percentile for chronological age that has_material_basis_in mutation in the SHOX gene or the SHOXY gene on chromosomes Xp22.33 and Yp11.2, respectively. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9140395/ "DO", https://pubmed.ncbi.nlm.nih.gov/9916840/ "DO"] synonym: "idiopathic familial short stature" EXACT [] synonym: "ISS" EXACT [] synonym: "X-linked idiopathic short stature" NARROW [] xref: MESH:C564479 xref: ORDO:314795 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080006 ! bone development disease is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112121 name: nephrogenic syndrome of inappropriate antidiuresis alt_id: MIM:300539 def: "A renal tubular transport disease characterized by inappropriate antidiuretic hormone secretion resulting in inability to excrete a free water load, inappropriately concentrated urine, and undetectable or low plasma arginine vasopressin levels that has_material_basis_in hemizygous gain-of-function mutation in the AVPR2 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15872203/ "DO"] synonym: "AVPR2-RELATED CONDITION" BROAD [] synonym: "NSIAD" EXACT [] xref: MESH:C564491 xref: ORDO:93606 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:3401 ! inappropriate ADH syndrome is_a: DOID:447 ! renal tubular transport disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112122 name: X-linked epilepsy with variable learning disabilities and behavior disorders alt_id: MIM:300491 def: "An epilepsy characterized by epilepsy with variable learning disabilities and behavioral disorders in some patients that has_material_basis_in heterozygous or hemizygous mutation in the SYN1 gene on chromosome Xp11.3-p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14985377/ "DO", https://pubmed.ncbi.nlm.nih.gov/21441247/ "DO"] synonym: "EPILX" EXACT [] synonym: "EPILX1" EXACT [] synonym: "X-linked bathing epilepsy" EXACT [] synonym: "X-linked epilepsy 1 with variable learning disabilities and behavior disorders" EXACT [] synonym: "X-linked epilepsy-learning disabilities-behavior disorders syndrome" EXACT [] synonym: "X-linked epilepsy with reflex bathing seizures" EXACT [] xref: MESH:C564505 xref: ORDO:85294 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1826 ! epilepsy is_a: DOID:8927 ! learning disability created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112123 name: deafness, dystonia, and cerebral hypomyelination alt_id: MIM:300475 def: "A syndrome characterized by motor and intellectual disabilities, dystonia, sensorineural deafness, white-matter changes and disorganization of the Golgi apparatus that has_material_basis_in heterozygous mutation in the BCAP31 gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24011989/ "DO"] synonym: "CADDS" NARROW [] synonym: "contiguous Abcd1/Dxs1375e deletion syndrome" EXACT [] synonym: "DDCH" EXACT [] synonym: "severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome" EXACT [] synonym: "severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome" EXACT [] xref: GARD:12472 xref: MESH:C564508 xref: ORDO:369939 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112124 name: X-linked retinitis pigmentosa and sinorespiratory infections alt_id: DOID:9005415 alt_id: MIM:300455 def: "A syndrome characterized by retinitis pigmentosa and recurrent respiratory infections with nasal ciliary abnormalities and hearing loss in some patients that has_material_basis_in mutation in the RPGR gene on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10094550/ "DO", https://pubmed.ncbi.nlm.nih.gov/1733835/ "DO"] synonym: "primary ciliary dyskinesia-retinitis pigmentosa syndrome" EXACT [] synonym: "RETINITIS PIGMENTOSA, SINORESPIRATORY INFECTIONS, AND DEAFNESS" NARROW [] synonym: "RPSRDF" EXACT [] synonym: "X-linked retinitis pigmentosa and sinorespiratory infections with deafness" NARROW [] synonym: "X-linked retinitis pigmentosa and sinorespiratory infections, with or without deafness" EXACT [] xref: MESH:C567595 xref: ORDO:247522 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9008680 ! Respiratory Tract Infections is_a: DOID:9008681 ! Deafness created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112125 name: alpha-thalassemia myelodysplasia syndrome alt_id: MIM:300448 def: "A syndrome characterized by acquired alpha-thalassemia in association with a multilineage myelodysplasia that has_material_basis_in somatic mutation in the ATRX gene on chromosome Xq21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12858175/ "DO"] synonym: "acquired HbH disease" EXACT [] synonym: "acquired hemoglobin H disease" EXACT [] synonym: "alpha-thalassemia-myelodysplastic syndrome" EXACT [] synonym: "ATMDS" EXACT [] xref: MESH:C563023 xref: ORDO:231401 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:1099 ! alpha thalassemia created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112126 name: Stocco Dos Santos type X-linked intellectual disability alt_id: MIM:300434 def: "A syndromic X-linked intellectual disability characterized by severe intellectual disability, hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections that has_material_basis_in mutation in the SHROOM4 gene on chromosome Xp11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16249884/ "DO"] synonym: "mental retardation, Stocco dos Santos type" EXACT [] synonym: "MRXSDS" EXACT [] synonym: "SDSX" EXACT [] synonym: "Stocco dos Santos Syndrome" EXACT [] synonym: "Stocco dos Santos X-linked mental retardation syndrome" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Stocco dos Santos type" EXACT [] synonym: "X-linked mental retardation, Stocco Dos Santos type" EXACT [] xref: MESH:C537495 xref: ORDO:85288 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112127 name: HRPT-related hyperuricemia alt_id: MIM:300323 def: "A hyperuricemia characterized by excessive purine production often resulting in renal stones, uric acid nephropathy, and renal obstruction that has_material_basis_in hemizygous mutation in the HPRT1 gene on chromosome Xq26.2-q26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10657589/ "DO", https://pubmed.ncbi.nlm.nih.gov/2896620/ "DO"] synonym: "Gout, HPRT-Related" EXACT [] synonym: "HPRT1-RELATED DISORDERS" BROAD [] synonym: "HPRT deficiency, grade I" EXACT [] synonym: "HPRT-related hyperuricemia" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency, partial" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade I" EXACT [] synonym: "hypoxanthine guanine phosphoribosyltransferase partial deficiency" EXACT [] synonym: "Kelley-Seegmiller syndrome" EXACT [] synonym: "partial HPRT1 deficiency" EXACT [] synonym: "partial HPRT deficiency" EXACT [] xref: MESH:C562583 xref: ORDO:79233 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:13189 ! gout is_a: DOID:1920 ! hyperuricemia created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112128 name: X-linked severe congenital neutropenia alt_id: MIM:300299 def: "A severe congenital neutropenia that has_material_basis_in hemizygous activating mutation in WAS on chromosome Xp11.23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11242115/ "DO"] synonym: "SCNX" EXACT [] synonym: "XLN" EXACT [] xref: GARD:3981 xref: MESH:C564539 xref: NCI:C176818 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0080012 ! X-linked recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112129 name: severe congenital neutropenia 7 def: "A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in the CSF3R gene on chromosome 1p34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24753537/ "DO", https://pubmed.ncbi.nlm.nih.gov/26324699/ "DO"] synonym: "autosomal recessive severe congenital neutropenia 7" EXACT [] synonym: "autosomal recessive severe congenital neutropenia due to CSF3R deficiency" EXACT [] synonym: "SCN7" EXACT [] xref: MIM:617014 xref: ORDO:420702 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112130 name: autosomal dominant severe congenital neutropenia def: "A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. (DO)" [https://medlineplus.gov/genetics/condition/severe-congenital-neutropenia "DO", https://pubmed.ncbi.nlm.nih.gov/28593997/ "DO"] xref: GARD:9558 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112131 name: severe congenital neutropenia 2 alt_id: MIM:613107 def: "An autosomal dominant severe congenital neutropenia that has_material_basis_in heterozygous mutation in the GFI1 gene on chromosome 1p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12778173/ "DO"] synonym: "SCN2" EXACT [] synonym: "severe congenital neutropenia, autosomal dominant 2" EXACT [] xref: MESH:C567748 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112132 name: severe congenital neutropenia 5 def: "A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in the VPS45 gene on chromosome 1q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23599270/ "DO", https://pubmed.ncbi.nlm.nih.gov/23738510/ "DO"] synonym: "congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome" EXACT [] synonym: "congenital neutropenia-myelofibrosis-nephromegaly syndrome" EXACT [] synonym: "SCN5" EXACT [] synonym: "severe congenital neutropenia 5, autosomal recessive" EXACT [] synonym: "VPS45 deficiency" EXACT [] xref: MIM:615285 xref: ORDO:369852 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112133 name: severe congenital neutropenia 3 alt_id: MIM:610738 def: "A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in the HAX1 gene on chromosome 1q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17187068/ "DO", https://pubmed.ncbi.nlm.nih.gov/21108402/ "DO"] synonym: "autosomal dominant or sporadic congenital neutropenia" EXACT [] synonym: "congenital agranulocytosis" EXACT [] synonym: "infantile agranulocytosis" EXACT [] synonym: "infantile genetic agranulocytosis" EXACT [] synonym: "Kostmann's agranulocytosis" EXACT [] synonym: "Kostmann's syndrome" EXACT [] synonym: "Kostmann disease" EXACT [] synonym: "Kostmann syndrome" EXACT [] synonym: "SCN3" EXACT [] synonym: "severe congenital neutropenia 3, autosomal recessive" EXACT [] synonym: "severe infantile genetic neutropenia" BROAD [] xref: GARD:302 xref: MESH:C537592 xref: ORDO:99749 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112134 name: severe congenital neutropenia 6 def: "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the JAGN1 gene on chromosome 3p25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25129144/ "DO"] synonym: "autosomal recessive severe congenital neutropenia due to JAGN1 deficiency" EXACT [] synonym: "SCN6" EXACT [] synonym: "severe congenital neutropenia 6, autosomal recessive" EXACT [] xref: MIM:616022 xref: ORDO:423384 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112135 name: severe congenital neutropenia 8 def: "An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28972538/ "DO"] synonym: "autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities" EXACT [] synonym: "SCN8" EXACT [] synonym: "SDSL" EXACT [] synonym: "severe congenital neutropenia 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities" EXACT [] synonym: "severe congenital neutropenia, autosomal dominant 8" EXACT [] synonym: "Shwachman-Diamond syndrome-like" EXACT [] xref: MIM:618752 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112136 name: severe congenital neutropenia 4 alt_id: MIM:612541 def: "A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC3 gene on chromosome 17q21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19118303/ "DO"] synonym: "autosomal recessive severe congenital neutropenia due to G6PC3 deficiency" EXACT [] synonym: "G6PC3-RELATED CONDITION" EXACT [] synonym: "SCN4" EXACT [] synonym: "severe congenital neutropenia, autosomal recessive 4" EXACT [] synonym: "severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome" EXACT [] xref: MESH:C567260 xref: ORDO:331176 is_a: DOID:0050590 ! severe congenital neutropenia is_a: DOID:0050737 ! autosomal recessive disease created_by: rgd creation_date: 2017-10-19T15:06:42Z [Term] id: DOID:0112137 name: combined oxidative phosphorylation deficiency 51 def: "A combined oxidative phosphorylation deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the PTCD3 gene on chromosome 2p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30607703/ "DO"] synonym: "COXPD51" EXACT [] xref: MIM:619057 xref: MONDO:0033631 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112138 name: primary coenzyme Q10 deficiency 9 def: "A coenzyme Q10 deficiency disease characterized by onset in the first decade of life of cerebellar ataxia associated with cerebellar atrophy that has_material_basis_in mutation homozygous or compound heterozygous in the COQ5 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29044765/ "DO"] synonym: "COQ10D9" EXACT [] xref: MIM:619028 is_a: DOID:0050730 ! coenzyme Q10 deficiency disease is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112139 name: nuclear type mitochondrial complex I deficiency 35 def: "A nuclear type mitochondrial complex I deficiency that has_material_basis_in homozygous or compound heterozygous mutation in the NDUFB10 gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28040730/ "DO"] synonym: "MC1DN35" EXACT [] xref: MIM:619003 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:0112140 name: retinitis pigmentosa 83 def: "A retinitis pigmentosa characterized by onset of night blindness in the first decade of life, decreased central vision in the second decade of life, and retinal degeneration that has_material_basis_in heterozygous mutation in ARL3 on chromosome 10q24.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30932721/ "DO"] synonym: "RP83" EXACT [] xref: MIM:618173 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112141 name: retinitis pigmentosa 84 def: "A retinitis pigmentosa characterized by onset of night blindness between ages 3 and 4 years and complete blindness as early as age 7 that has_material_basis_in homozygous or compound heterozygous mutation in the DHX38 gene on chromosome 16q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24737827/ "DO", https://pubmed.ncbi.nlm.nih.gov/30208423/ "DO"] synonym: "RP84" EXACT [] xref: MIM:618220 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112142 name: retinitis pigmentosa 85 def: "A retinitis pigmentosa that has_material_basis_in homozygous or compound heterozygous mutation in AHR on chromosome 7p21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29726989/ "DO"] synonym: "RP85" EXACT [] xref: MIM:618345 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112143 name: retinitis pigmentosa 86 def: "A retinitis pigmentosa characterized by night blindness followed by progressive narrowing of visual fields and decline in visual acuity that has_material_basis_in mutation in the KIAA1549 gene on chromosome 7q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30120214/ "DO"] synonym: "RP86" EXACT [] xref: MIM:618613 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112144 name: retinitis pigmentosa 87 def: "A retinitis pigmentosa characterized by slowly progressive visual disturbance and extensive choroid/retinal atrophy that has_material_basis_in heterozygous mutation in the RPE65 gene on chromosome 1p31.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27307694/ "DO", https://pubmed.ncbi.nlm.nih.gov/30628748/ "DO"] synonym: "retinitis pigmentosa 87 with choroidal involvement" EXACT [] synonym: "RP87" EXACT [] xref: MIM:618697 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112145 name: retinitis pigmentosa 88 def: "A retinitis pigmentosa characterized by night blindness and constriction of peripheral visual fields, with mildly reduced visual acuity that has_material_basis_in homozygous or compound heterozygous mutation in the RP1L1 gene on chromosome 8p23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30025130/ "DO", https://pubmed.ncbi.nlm.nih.gov/31236346/ "DO", https://pubmed.ncbi.nlm.nih.gov/31833436/ "DO"] synonym: "RP1L1-RELATED CONDITION" BROAD [] synonym: "RP88" EXACT [] xref: MIM:618826 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112146 name: retinitis pigmentosa 89 def: "A retinitis pigmentosa characterized by onset of retinitis pigmentosa in the first decade of life and additional features of ciliopathy that has_material_basis_in heterozygous mutation in the KIF3B gene on chromosome 20q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32386558/ "DO"] synonym: "RP89" EXACT [] xref: MIM:618955 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112147 name: retinitis pigmentosa 90 def: "A retinitis pigmentosa characterized by onset in the first decade of life of night blindness that has_material_basis_in homozygous or compound heterozygous mutation in the IDH3A gene on chromosome 15q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28412069/ "DO"] synonym: "RP90" EXACT [] xref: MIM:619007 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112148 name: Uruguay faciocardiomusculoskeletal syndrome alt_id: MIM:300280 def: "A syndrome characterized by distinctive facial appearance, muscular hypertrophy, and cardiac ventricular hypertrophy that has_material_basis_in hemizygous mutation in the FHL1 gene on chromosome Xq26.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11102932/ "DO", https://pubmed.ncbi.nlm.nih.gov/26933038/ "DO"] synonym: "faciocardiomusculoskeletal syndrome, Uruguay type" EXACT [] synonym: "FCMSU" EXACT [] xref: MESH:C564544 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0080000 ! muscular disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112149 name: terminal osseous dysplasia alt_id: MIM:300244 def: "A syndrome characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma during infancy that has_material_basis_in heterozygous mutation in the FLNA gene on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20598277/ "DO"] synonym: "digital osseous dysplasia with facial pigmentary defects and multiple frenula" EXACT [] synonym: "ODPD" EXACT [] synonym: "ODPF" EXACT [] synonym: "ODPF syndrome" EXACT [] synonym: "terminal osseous dysplasia and pigmentary defects" EXACT [] synonym: "terminal osseous dysplasia-pigmentary defects syndrome" EXACT [] synonym: "TOD" EXACT [] synonym: "TODPD" EXACT [] xref: MESH:C564554 xref: ORDO:88630 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112150 name: X-linked spondyloepimetaphyseal dysplasia alt_id: MIM:300106 def: "A spondyloepimetaphyseal dysplasia that has_material_basis_in hemizygous mutation in BGN on chromosome Xq28. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27236923/ "DO", https://pubmed.ncbi.nlm.nih.gov/8064814/ "DO"] synonym: "BGN-RELATED CONDITION" BROAD [] synonym: "SEMDX" EXACT [] synonym: "SEMD, X-Linked" EXACT [] xref: GARD:4979 xref: MESH:C564714 xref: NCI:C188996 xref: ORDO:93349 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia created_by: mtutaj creation_date: 2020-11-04T00:00:00Z [Term] id: DOID:0112151 name: corpus callosum agenesis-abnormal genitalia syndrome alt_id: MIM:300004 def: "A syndrome characterized by agenesis of the corpus callosum, severe intellectual disability, seizures, and spasticity with males showing a severe phenotype and females showing a mild or non-affected phenotype that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14722918/ "DO", https://pubmed.ncbi.nlm.nih.gov/1605226/ "DO"] synonym: "ACC-abnormal genitalia syndrome" EXACT [] synonym: "ACC with abnormal genitalia" EXACT [] synonym: "agenesis of corpus callosum with abnormal genitalia" EXACT [] synonym: "corpus callosum agenesis with abnormal genitalia" EXACT [] synonym: "microcephaly-corpus callosum agenesis-abnormal genitalia syndrome" EXACT [] synonym: "Proud-Levine-Carpenter syndrome" EXACT [] synonym: "Proud syndrome" EXACT [] xref: GARD:4528 xref: MESH:C563110 xref: ORDO:2508 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9001999 ! Agenesis of Corpus Callosum created_by: mtutaj creation_date: 2020-11-04T00:00:00Z [Term] id: DOID:0112152 name: CHIME syndrome alt_id: MIM:280000 def: "A syndrome characterized by colobomas, congenital heart defects, migratory ichthyosiform dermatosis, intellectual disability, and ear anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the PIGL gene on chromosome 17p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22444671/ "DO"] synonym: "CHIME" EXACT [] synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, impaired intellectual development, and ear anomalies syndrome" EXACT [] synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies (CHIME) syndrome" EXACT [] synonym: "coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome" EXACT [] synonym: "coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome" EXACT [] synonym: "congenital disorder of glycosylation due to PIGL deficiency" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 5" EXACT [] synonym: "GPIBD5" EXACT [] synonym: "neuroectodermal dysplasia, CHIME type" EXACT [] synonym: "neuroectodermal syndrome, Zunich type" EXACT [] synonym: "PIGL-CDG" EXACT [] synonym: "Zunich-Kaye syndrome" EXACT [] synonym: "Zunich neuroectodermal syndrome" EXACT [] xref: GARD:310 xref: MESH:C536729 xref: ORDO:3474 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:1682 ! congenital heart disease is_a: DOID:1697 ! ichthyosis is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9003483 ! Conductive Hearing Loss created_by: mtutaj creation_date: 2020-11-03T00:00:00Z [Term] id: DOID:0112153 name: hypomyelinating leukodystrophy 20 def: "A hypomyelinating leukodystrophy characterized by progressive loss of developmental milestones starting at about 12 to 16 months of age after normal early development that has_material_basis_in homozygous or compound heterozygous mutation in CNP on chromosome 17q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32128616/ "DO"] synonym: "HLD20" EXACT [] xref: MIM:619071 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: mtutaj creation_date: 2020-07-31T11:45:15Z [Term] id: DOID:0112154 name: inflammatory bowel disease 30 def: "An inflammatory bowel disease characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease that has_material_basis_in heterozygous mutation in the CARD8 gene on chromosome 19q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29408806/ "DO"] synonym: "CARD8-RELATED CONDITION" EXACT [] synonym: "IBD30" EXACT [] synonym: "inflammatory bowel disease (Crohn disease) 30" EXACT [] xref: MIM:619079 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112155 name: inflammatory bowel disease 29 def: "An inflammatory bowel disease that has_material_basis_in heterozygous mutation in the INAVA gene on chromosome 1q32.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29420262/ "DO"] synonym: "IBD29" EXACT [] xref: MIM:618077 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112156 name: X-linked dyserythropoietic anemia def: "An anemia characterized by early-onset anemia and bone marrow erythroid hypoplasia with variable neutropenia that has_material_basis_in hemizygous splice-site mutation in the GATA1 gene on chromosome Xp11.23. This mutaion impairs expression of the long isoform of GATA1 but expression of a short form is seen. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16783379/ "DO", https://pubmed.ncbi.nlm.nih.gov/22706301/ "DO"] synonym: "XLANP" EXACT [] synonym: "X-linked anemia with/without neutropenia and/or platelet abnormalities" EXACT [] synonym: "X-linked anemia with or without neutropenia and/or platelet abnormalities" EXACT [] synonym: "X-linked dyserythropoietic anemia with abnormal platelets and neutropenia" EXACT [] xref: MIM:300835 xref: ORDO:363727 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1227 ! neutropenia is_a: DOID:2218 ! blood platelet disease is_a: DOID:2355 ! anemia created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112157 name: X-linked atrophic macular degeneration def: "A macular degeneration characterized by macular atrophy causing progressive loss of visual acuity with minimal peripheral visual impairment that has_material_basis_in hemizygous mutation in RPGR on chromosome Xp11.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12160730/ "DO"] xref: MIM:300834 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9001007 ! X-Linked Macular Dystrophy created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112158 name: De Sanctis-Cacchione syndrome alt_id: MIM:278800 def: "A xeroderma pigmentosum characterized by xeroderma pigmentosum, short stature, intellectual disabilities, and progressive neurologic degeneration. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10767341/ "DO", https://pubmed.ncbi.nlm.nih.gov/2168777/ "DO", https://pubmed.ncbi.nlm.nih.gov/28491977/ "DO"] synonym: "Desanctis-Cacchione Syndrome" EXACT [] synonym: "xeroderma pigmentosum, mental deficiency, dwarfism, and gonadal hypoplasia" EXACT [] synonym: "xeroderma pigmentosum with neurologic manifestation" EXACT [] synonym: "xerodermic idiocy of de Sanctis and Cacchione" EXACT [] xref: GARD:8276 xref: MESH:C535992 xref: NCI:C84666 xref: ORDO:1569 is_a: DOID:0050427 ! xeroderma pigmentosum is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112159 name: autosomal dominant nonsyndromic deafness 78 def: "An autosomal dominant nonsyndromic deafness characterized by congenital onset of profound bilateral sensorineural hearing loss affecting all frequencies that has_material_basis_in heterozygous mutation in the carboxy-terminal domain of the SLC12A2 gene on chromosome 5q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32294086/ "DO"] synonym: "autosomal dominant deafness 78" EXACT [] synonym: "DFNA78" EXACT [] xref: MIM:619081 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112160 name: autosomal dominant nonsyndromic deafness 79 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31972369/ "DO"] synonym: "autosomal dominant deafness 79" EXACT [] synonym: "DFNA79" EXACT [] xref: MIM:619086 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2020-07-31T11:55:23Z [Term] id: DOID:0112161 name: Noonan syndrome 13 def: "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32721402/ "DO"] synonym: "NS13" EXACT [] xref: MIM:619087 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112162 name: autosomal recessive nonsyndromic deafness 116 def: "An autosomal recessive nonsyndromic deafness that has_material_basis_in homozygous or compound heterozygous mutation in the CLDN9 gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31175426/ "DO"] synonym: "autosomal recessive deafness 116" EXACT [] synonym: "DFNB116" EXACT [] xref: MIM:619093 xref: MONDO:0033670 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: mtutaj creation_date: 2019-02-13T14:54:42Z [Term] id: DOID:0112163 name: spermatogenic failure 45 def: "A spermatogenic failure characterized by male infertility due to severe teratozoospermia with multiple morphologic abnormalities of the flagella and disruption of the axonemal complex and mitochondrial sheath that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH2 gene on chromosome 17p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30811583/ "DO"] synonym: "SPGF45" EXACT [] xref: MIM:619094 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112164 name: spermatogenic failure 46 def: "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with multiple morphologic abnormalities of the flagella and disorganization of the axonemal and periaxonemal structures that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH8 gene on chromosome 6p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32619401/ "DO", https://pubmed.ncbi.nlm.nih.gov/32681648/ "DO"] synonym: "DNAH8-RELATED CONDITION" EXACT [] synonym: "SPGF46" EXACT [] xref: MIM:619095 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2019-02-12T10:11:43Z [Term] id: DOID:0112165 name: autosomal dominant nonsyndromic deafness 74 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the PDE1C gene on chromosome 7p14.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29860631/ "DO"] synonym: "autosomal dominant deafness 74" EXACT [] synonym: "DFNA74" EXACT [] xref: MIM:618140 xref: MONDO:0029137 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2020-09-04T13:40:09Z [Term] id: DOID:0112166 name: autosomal dominant nonsyndromic deafness 75 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the TRRAP gene on chromosome 7q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31231791/ "DO"] synonym: "autosomal dominant deafness 75" EXACT [] synonym: "DFNA75" EXACT [] synonym: "TRRAP-RELATED CONDITION" BROAD [] synonym: "TRRAP-RELATED DISORDER" BROAD [] xref: MIM:618778 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112167 name: autosomal dominant nonsyndromic deafness 76 def: "An autosomal dominant nonsyndromic deafness characterized by progressive or nonprogressive hearing loss with variable age at onset and typically is more severe at higher frequencies that has_material_basis_in heterozygous mutation in the PLS1 gene on chromosome 3q23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30872814/ "DO", https://pubmed.ncbi.nlm.nih.gov/31397523/ "DO", https://pubmed.ncbi.nlm.nih.gov/31432506/ "DO"] synonym: "autosomal dominant deafness 76" EXACT [] synonym: "DFNA76" EXACT [] synonym: "PLS1-RELATED CONDITION" EXACT [] xref: MIM:618787 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2019-02-13T13:19:12Z [Term] id: DOID:0112168 name: autosomal dominant nonsyndromic deafness 77 def: "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the ABCC1 gene on chromosome 16p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31273342/ "DO"] synonym: "autosomal dominant deafness 77" EXACT [] synonym: "DFNA77" EXACT [] xref: MIM:618915 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness created_by: mtutaj creation_date: 2019-10-04T10:38:35Z [Term] id: DOID:0112169 name: Noonan syndrome 11 def: "A Noonan syndrome characterized by clinical characteristics of Noonan syndrome, varying impairment of intellectual development, and cardiac hypertrophy that has_material_basis_in heterozygous mutation in the MRAS gene on chromosome 3q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28289718/ "DO"] synonym: "NS11" EXACT [] xref: MIM:618499 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome created_by: mtutaj creation_date: 2020-09-29T09:38:19Z [Term] id: DOID:0112170 name: Noonan syndrome 12 def: "A Noonan syndrome characterized by macrocephaly, facial anomalies including hypertelorism, downslanting palpebral fissures, and low-set ears, and other Noonan syndrome features that has_material_basis_in heterozygous mutation in the RRAS2 gene on chromosome 11p15.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31130282/ "DO", https://pubmed.ncbi.nlm.nih.gov/31130285/ "DO"] synonym: "NS12" EXACT [] synonym: "RRAS2-RELATED CONDITION" EXACT [] xref: MIM:618624 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3490 ! Noonan syndrome created_by: mtutaj creation_date: 2019-02-08T15:18:56Z [Term] id: DOID:0112171 name: wrinkly skin syndrome def: "A syndrome characterized by sagging or wrinkly skin, reduced skin elasticity, delayed closure of the fontanel, typically mild developmental delay, and variable other skeletal, neurological and facial features that has_material_basis_in homozygous or compound heterozygous mutation in the ATP6V0A2 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18157129/ "DO", https://pubmed.ncbi.nlm.nih.gov/4765201/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK5200/ "DO"] synonym: "WSS" EXACT [] xref: GARD:273 xref: MESH:C536750 xref: MIM:278250 xref: MONDO:0010208 xref: ORDO:2834 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:3144 ! cutis laxa created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112172 name: hereditary combined deficiency of vitamin K-dependent clotting factors def: "A blood coagulation disease characterized by reduced hepatic gamma-carboxylation of glutamic acid residues of all vitamin K-dependent blood coagulation factors and the anticoagulant factors protein C and protein S resulting in a bleeding tendency that is usually reversed by oral administration of vitamin K that has_material_basis_in a heritable mutation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20630065/ "DO"] synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT [] xref: ORDO:98434 is_a: DOID:0050177 ! monogenic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112173 name: combined deficiency of vitamin K-dependent clotting factors 1 alt_id: MIM:277450 def: "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the GGCX gene on chromosome 2p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9845520/ "DO"] synonym: "Factors II, VII, IX, And X, Combined Deficiency Of" EXACT [] synonym: "Familial Multiple Coagulation Factor Deficiency III" EXACT [] synonym: "FMFD III" EXACT [] synonym: "GGCX-RELATED CONDITION" BROAD [] synonym: "Glutamic Acid, Deficient Gamma-Carboxylation Of" EXACT [] synonym: "MCFD3" EXACT [] synonym: "Multiple Coagulation Factor Deficiency III" EXACT [] synonym: "Vitamin K-Dependent Coagulation Defect" EXACT [] synonym: "VKCFD" EXACT [] synonym: "VKCFD1" EXACT [] xref: MESH:C564741 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112172 ! hereditary combined deficiency of vitamin K-dependent clotting factors created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112174 name: combined deficiency of vitamin K-dependent clotting factors 2 alt_id: MIM:607473 def: "A hereditary combined deficiency of vitamin K-dependent clotting factors that has_material_basis_in homozygous or compound heterozygous mutation in the VKORC1 gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14765194/ "DO"] synonym: "combined deficiency of vitamin K-dependent clotting factors, type 2" EXACT [] synonym: "VKCFD2" EXACT [] xref: MESH:C564393 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112172 ! hereditary combined deficiency of vitamin K-dependent clotting factors is_a: DOID:9004931 ! Coagulation Protein Disorders created_by: mtutaj creation_date: 2020-12-02T00:00:00Z [Term] id: DOID:0112175 name: spermatogenic failure 47 def: "A spermatogenic failure characterized by asthenoteratospermia,reduced sperm concentrations, and immotile spermatozoa with short or absent flagella as well as centriolar abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the DZIP1 gene on chromosome 13q32.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32051257/ "DO"] synonym: "SPGF47" EXACT [] xref: MIM:619102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2019-02-08T16:24:01Z [Term] id: DOID:0112176 name: spermatogenic failure 48 def: "A spermatogenic failure that is characterized by impaired spermatogenesis, primarily occurring at meiosis that has_material_basis_in homozygous or compound heterozygous mutation in M1AP on chromosome 2p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32017041/ "DO", https://pubmed.ncbi.nlm.nih.gov/32673564/ "DO"] synonym: "SPGF48" EXACT [] xref: MIM:619108 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:0112177 name: Mayer-Rokitansky-Kuster-Hauser syndrome def: "A syndrome characterized by aplasia of the uterus and upper part of the vagina in patients with normal secondary sex characteristics and a 46,XX karyotype. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32819397/ "DO"] synonym: "APLASIA OF THE UTERUS" NARROW [] synonym: "CAUV UROGENITAL ADYSPLASIA" NARROW [] synonym: "MRK anomaly" EXACT [] synonym: "MRKH anomaly" EXACT [] synonym: "MRKH syndrome" EXACT [] synonym: "Mullerian Aplasia" EXACT [] synonym: "MULLERIAN APLASIA/DYSGENESIS" EXACT [] synonym: "Mullerian duct failure" EXACT [] synonym: "RKH syndrome" EXACT [] synonym: "Rokitansky Kuster Hauser syndrome" EXACT [] synonym: "Rokitansky syndrome" EXACT [] synonym: "UTERUS BIPARTITUS SOLIDUS RUDIMENTARIUS CUM VAGINA SOLIDA" EXACT [] synonym: "von Mayer-Rokitansky-Kuster anomaly" EXACT [] xref: MESH:C537371 xref: NCI:C124853 xref: ORDO:3109 is_a: DOID:225 ! syndrome is_a: DOID:9005835 ! Congenital Abnormalities is_a: DOID:9005851 ! 46, XX Disorders of Sex Development created_by: mtutaj creation_date: 2020-12-22T14:53:11Z [Term] id: DOID:0112178 name: Mayer-Rokitansky-Kuster-Hauser syndrome type 1 def: "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by isolated utero-vaginal atresia in patients with an otherwise normal 46 XX karyotype. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16691591/ "DO"] synonym: "congenital absence of uterus and vagina" EXACT [] synonym: "MRKH syndrome type 1" EXACT [] synonym: "Rokitansky sequence" EXACT [] xref: MIM:277000 xref: ORDO:247775 is_a: DOID:0112177 ! Mayer-Rokitansky-Kuster-Hauser syndrome created_by: mtutaj creation_date: 2020-12-22T14:59:11Z [Term] id: DOID:0112179 name: Mayer-Rokitansky-Kuster-Hauser syndrome type 2 def: "A Mayer-Rokitansky-Kuster-Hauser syndrome characterized by congenital aplasia of the uterus and upper two thirds of the vagina that is associated with at least one other malformation such as renal, vertebral, or, less commonly, auditory and cardiac defects. (DO)" [https://pubmed.ncbi.nlm.nih.gov/469663/ "DO"] synonym: "atypical MRKH syndrome" EXACT [] synonym: "Klippel-Feil deformity, conductive deafness, and absent vagina" EXACT [] synonym: "Mayer-Rokitansky-Kuster-Hauser Syndrome, Type II" EXACT [] synonym: "MRKH syndrome type 2" EXACT [] synonym: "MRKH, Type II" EXACT [] synonym: "mullerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome" EXACT [] synonym: "Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies" EXACT [] synonym: "mullerian duct aplasia, unilateral renal aplasia, and cervicothoracic somite dysplasia" EXACT [] synonym: "MURCS" EXACT [] synonym: "MURCS association" EXACT [] xref: MIM:601076 xref: ORDO:2578 is_a: DOID:0112177 ! Mayer-Rokitansky-Kuster-Hauser syndrome created_by: mtutaj creation_date: 2020-09-04T13:10:00Z [Term] id: DOID:0112180 name: urocanase deficiency alt_id: MIM:276880 def: "A histidine metabolism disease characterized by urocanic aciduria and other variable manifestations including intellectual disability and intermittent ataxia that has_material_basis_in mutation homozygous or compound heterozygous in the UROC1 gene on chromosome 3q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19304569/ "DO", https://pubmed.ncbi.nlm.nih.gov/6107814/ "DO"] synonym: "encephalopathy due to urocanase deficiency" EXACT [] synonym: "high urine urocanic acid levels" EXACT [] synonym: "urocanate hydratase deficiency" EXACT [] synonym: "urocanic aciduria" EXACT [] synonym: "UROCD" EXACT [] xref: GARD:8539 xref: MESH:C536479 xref: ORDO:210128 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9265 ! histidine metabolism disease created_by: mtutaj creation_date: 2019-02-13T12:31:20Z [Term] id: DOID:0112181 name: Schinzel type phocomelia alt_id: MIM:276820 def: "A syndrome characterized by severe malformations of upper and lower limbs,severely hypoplastic pelvis, and abnormal genitalia that has_material_basis_in homozygous or compound heterozygous mutation in the WNT7A gene on chromosome 3p25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16826533/ "DO", https://pubmed.ncbi.nlm.nih.gov/20949531/ "DO"] synonym: "AARRS" EXACT [] synonym: "Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome" EXACT [] synonym: "Al-Awadi-Raas-Rothschild Syndrome" EXACT [] synonym: "Al Awadi Rass Rothschild syndrome" EXACT [] synonym: "Al Awadi Syndrome" EXACT [] synonym: "aplasia/hypoplasia of limbs and pelvis" EXACT [] synonym: "congenital absence of ulna and fibula" EXACT [] synonym: "Limb-Pelvis Hypoplasia-Aplasia syndrome" EXACT [] synonym: "LPHAS" EXACT [] synonym: "Schinzel phocomelia syndrome" EXACT [] synonym: "severe limb deficit" EXACT [] synonym: "Ulna and fibula absence of with severe limb deficiency" EXACT [] xref: GARD:9212 xref: MESH:C535612 xref: ORDO:2879 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13938 ! amenorrhea is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia created_by: mtutaj creation_date: 2020-07-17T13:04:05Z [Term] id: DOID:0112182 name: mismatch repair cancer syndrome def: "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24737826/ "DO", https://pubmed.ncbi.nlm.nih.gov/7661930/ "DO"] synonym: "childhood cancer syndrome" EXACT [] synonym: "CMMRDS" EXACT [] synonym: "CMMR-D syndrome" EXACT [] synonym: "CNS tumors with Familial polyposis of the colon" EXACT [] synonym: "CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME" EXACT [] synonym: "mismatch repair cancer syndromes" EXACT [] synonym: "mismatch repair deficiency" EXACT [] synonym: "MMRCS" EXACT [] synonym: "MMR deficiency" EXACT [] synonym: "Turcot syndrome" EXACT [] xref: MESH:C536928 xref: MIM:PS276300 xref: NCI:C3938 xref: ORDO:252202 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9007502 ! Brain Neoplasms is_a: DOID:9008443 ! Colorectal Neoplasms created_by: mtutaj creation_date: 2019-03-05T08:16:37Z [Term] id: DOID:0112183 name: familial thyroid dyshormonogenesis def: "A congenital hypothyroidism characterized by thyroid hormone deficiency that is present from birth and results from defects in thyroid hormone synthesis. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15863666/ "DO"] synonym: "dyshormogenetic goiter" EXACT [] synonym: "Thyroid Dyshormonogenesis" EXACT [] synonym: "thyroid hormonogenesis defect" EXACT [] xref: ORDO:95716 is_a: DOID:0050328 ! congenital hypothyroidism created_by: mtutaj creation_date: 2020-12-22T15:35:11Z [Term] id: DOID:0112184 name: thyroid dyshormonogenesis 5 alt_id: MIM:274900 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18042646/ "DO"] synonym: "congenital hypothyroidism due to dyshormonogenesis, 5" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 5" EXACT [] synonym: "TDH5" EXACT [] xref: MESH:C562771 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2020-12-22T15:31:11Z [Term] id: DOID:0112185 name: thyroid dyshormonogenesis 1 alt_id: MIM:274400 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9171822/ "DO"] synonym: "genetic defect in thyroid hormonogenesis 1" EXACT [] synonym: "Hypothyroidism, Congenital, due to Dyshormonogenesis, 1" EXACT [] synonym: "iodide accumulation, transport, or trapping defect" EXACT [] synonym: "iodine accumulation, transport, or trapping defect" EXACT [] synonym: "SLC5A5-RELATED CONDITION" EXACT [] synonym: "TDH1" EXACT [] xref: MESH:C564766 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2020-12-22T15:35:11Z [Term] id: DOID:0112186 name: thyroid dyshormonogenesis 2A alt_id: MIM:274500 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TPO on chromosome 2p25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1401057/ "DO"] synonym: "congenital hypothyroidism due to dyshormonogenesis 2A" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 2A" EXACT [] synonym: "iodide peroxidase deficiency" EXACT [] synonym: "TDH2A" EXACT [] synonym: "thyroid peroxidase deficiency" EXACT [] xref: MESH:C563206 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2020-10-13T08:05:17Z [Term] id: DOID:0112187 name: thyroid dyshormonogenesis 3 alt_id: MIM:274700 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17244789/ "DO"] synonym: "congenital hypothyroidism due to dyshormonogenesis 3" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 3" EXACT [] synonym: "TDH3" EXACT [] synonym: "TG-RELATED CONDITION" BROAD [] xref: MESH:C562769 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2020-12-22T15:47:11Z [Term] id: DOID:0112188 name: thyroid dyshormonogenesis 4 alt_id: MIM:274800 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18434651/ "DO"] synonym: "Deiodinase Deficiency" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 4" EXACT [] synonym: "Hypothyroidism, Congenital, due to Dyshormonogenesis, 4" EXACT [] synonym: "iodotyrosine dehalogenase deficiency" EXACT [] synonym: "TDH4" EXACT [] xref: MESH:C562770 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: rgd creation_date: 2017-04-18T00:00:00Z [Term] id: DOID:0112189 name: thyroid dyshormonogenesis 6 alt_id: MIM:607200 def: "A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOX2 on chromosome 15q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12110737/ "DO"] synonym: "congenital hypothyroidism due to dyshormonogenesis 6" EXACT [] synonym: "DUOX2-RELATED CONDITION" EXACT [] synonym: "genetic defect in thyroid hormonogenesis 6" EXACT [] synonym: "nongoitrous euthyroid hyperthyrotropinemia" NARROW [] synonym: "TDH6" EXACT [] xref: MESH:C564608 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112183 ! familial thyroid dyshormonogenesis created_by: mtutaj creation_date: 2019-12-16T09:44:40Z [Term] id: DOID:0112190 name: distal arthrogryposis type 1C def: "A distal arthrogryposis type 1 characterized by congenital contractures, scoliosis, and short stature that has_material_basis_in heterozygous or homozygous mutation in the MYLPF gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32707087/ "DO"] synonym: "DA1C" EXACT [] xref: MIM:619110 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0111596 ! distal arthrogryposis type 1 created_by: mtutaj creation_date: 2020-07-07T07:39:50Z [Term] id: DOID:0112191 name: tetraamelia syndrome alt_id: DOID:9000993 def: "A syndrome characterized by rudimentary or absent appendages and anomalies involving the cranium and face, urogenital system, anorectum, heart, lungs, skeleton, and/or central nervous system. (DO)" [https://medlineplus.gov/genetics/condition/tetra-amelia-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/16283889/ "DO"] synonym: "TETAMS" EXACT [] synonym: "Tetra-Amelia" EXACT [] synonym: "Tetraamelia Multiple Malformations" EXACT [] synonym: "tetraamelia-multiple malformations syndrome" EXACT [] synonym: "Tetra-Amelia Syndrome" EXACT [] synonym: "Zimmer phocomelia" EXACT [] synonym: "Zimmer Taub Sova syndrome" EXACT [] xref: GARD:386 xref: MESH:C536500 xref: MIM:PS273395 xref: MONDO:0010110 xref: ORDO:3301 is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-12-22T16:00:00Z [Term] id: DOID:0112192 name: tetraamelia syndrome 1 alt_id: MIM:273395 def: "A tetraamelia syndrome characterized by complete limb agenesis without defects of scapulae or clavicles that has_material_basis_in homozygous or compound heterozygous mutation in WNT3 on chromosome 17q21.31-q21.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14872406/ "DO"] synonym: "TETAMS1" EXACT [] synonym: "Tetra-Amelia Autosomal Recessive" EXACT [] synonym: "Tetraamelia, Autosomal Recessive" EXACT [] synonym: "tetra-amelia syndrome 1" EXACT [] synonym: "tetraamelia syndrome, autosomal recessive" EXACT [] xref: GARD:5148 xref: MESH:C536498 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112191 ! tetraamelia syndrome created_by: mtutaj creation_date: 2020-12-22T16:10:11Z [Term] id: DOID:0112193 name: tetraamelia syndrome 2 alt_id: MIM:618021 def: "A tetraamelia syndrome characterized by rudimentary or absent appendages, bilateral agenesis of the lungs, pulmonary vascular abnormalities, and dysmorphic features that has_material_basis_in homozygous or compound heterozygous mutation in RSPO2 on chromosome 8q23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16283889/ "DO", https://pubmed.ncbi.nlm.nih.gov/29769720/ "DO"] synonym: "absence of upper and lower limbs with pulmonary hypoplasia" EXACT [] synonym: "syndrome of tetraamelia with pulmonary hypoplasia" EXACT [] synonym: "TETAMS2" EXACT [] synonym: "tetraamelia syndrome 2 with pulmonary agenesis" EXACT [] synonym: "tetra-amelia with pulmonary hypoplasia" EXACT [] synonym: "tetraamelia with pulmonary hypoplasia" EXACT [] xref: GARD:5147 xref: MESH:C536499 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112191 ! tetraamelia syndrome is_a: DOID:9000096 ! Lung Agenesis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:0112194 name: Filippi syndrome alt_id: MESH:C537528 alt_id: MIM:272440 def: "A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18553552/ "DO", https://pubmed.ncbi.nlm.nih.gov/25439729/ "DO"] synonym: "craniodigital syndrome-mental retardation, Scott type" EXACT [] synonym: "craniodigital syndrome with mental retardation" EXACT [] synonym: "FLPIS" EXACT [] synonym: "Scott Bryant Graham Syndrome" EXACT [] synonym: "Scott craniodigital syndrome with mental retardation" EXACT [] synonym: "syndactyly type I with microcephaly and mental retardation" EXACT [] synonym: "type 1 syndactyly-microcephaly-intellectual disability syndrome" EXACT [] xref: GARD:62 xref: MESH:C538152 xref: ORDO:3255 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-12-22T16:17:11Z [Term] id: DOID:0112195 name: spondyloperipheral dysplasia alt_id: MIM:271700 def: "An osteochondrodysplasia characterized by platyspondyly, brachydactyly type E changes, bilateral short ulnae, and mild short stature that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15316962/ "DO", https://pubmed.ncbi.nlm.nih.gov/8723097/ "DO"] synonym: "familial spondyloepiphyseal dysplasia" EXACT [] synonym: "spondyloperipheral dysplasia, short ulna" EXACT [] synonym: "spondyloperipheral dysplasia-short ulna syndrome" EXACT [] synonym: "spondyloperipheral dysplasia with short ulna" EXACT [] xref: MESH:C535799 xref: NCI:C135088 xref: ORDO:1856 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2020-11-06T09:20:20Z [Term] id: DOID:0112196 name: spondylometaepiphyseal dysplasia, short limb-hand type def: "A spondyloepimetaphyseal dysplasia characterized by short stature, short limbs and hands, and typical radiological features which include platyspondyly, metaphyseal, and epiphyseal involvement, short tubular bones of the limbs, and abnormal calcification of cartilage that has_material_basis_in homozygous or compound heterozygous mutation in the DDR2 gene on chromosome 1q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31406622/ "DO", https://pubmed.ncbi.nlm.nih.gov/8434618/ "DO"] synonym: "SMED, Short Limb-Abnormal Calcification Type" EXACT [] synonym: "SMED, Short Limb-Hand Type" EXACT [] synonym: "SMED-SL" EXACT [] synonym: "SMED-SL/AC" EXACT [] synonym: "SMED type 2" EXACT [] synonym: "SMED Type II" EXACT [] synonym: "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome" EXACT [] synonym: "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type" EXACT [] xref: GARD:10616 xref: MESH:C564794 xref: MIM:271665 xref: MONDO:0010077 xref: ORDO:93358 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2020-12-22T18:19:11Z [Term] id: DOID:0112197 name: spondyloepimetaphyseal dysplasia with joint laxity def: "A spondyloepimetaphyseal dysplasia characterized by spinal abnormalities and gross articular hypermobility. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30358852/ "DO"] synonym: "PRIMARY BONE DYSPLASIA WITH MULTIPLE JOINT DISLOCATIONS" EXACT [] synonym: "SEMDJL" EXACT [] xref: GARD:4982 xref: MESH:C562968 xref: MIM:PS271640 xref: ORDO:93359 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9005077 ! Joint Instability created_by: mtutaj creation_date: 2020-12-22T18:24:11Z [Term] id: DOID:0112198 name: spondyloepimetaphyseal dysplasia with joint laxity type 1 def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by vertebral abnormalities and ligamentous laxity that result in spinal misalignment and progressive severe kyphoscoliosis, thoracic asymmetry, and respiratory compromise that has_material_basis_in homozygous or compound heterozygous mutation in the B3GALT6 gene on chromosome 1p36.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10482874/ "DO"] synonym: "SEMDJL1" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1, with fractures" NARROW [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity type 1, with or without fractures" EXACT [] xref: MIM:271640 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity created_by: mtutaj creation_date: 2020-12-22T18:29:11Z [Term] id: DOID:0112199 name: spondyloepimetaphyseal dysplasia with joint laxity type 2 alt_id: MIM:603546 def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by short stature, distinctive midface retrusion, progressive knee malalignment, generalized ligamentous laxity, multiple joint dislocations, and mild spinal deformity that has_material_basis_in heterozygous mutation in KIF22 on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19277648/ "DO", https://pubmed.ncbi.nlm.nih.gov/22152677/ "DO"] synonym: "KIF22-RELATED CONDITION" EXACT [] synonym: "SEMDJL2" EXACT [] synonym: "SEMD-MD" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with joint laxicity, Hall type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, Hall type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type" EXACT [] synonym: "spondyloepimetaphyseal dysplasia with multiple dislocations, leptodactylic type" EXACT [] xref: MESH:C535784 xref: NCI:C125419 xref: ORDO:93360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity created_by: mtutaj creation_date: 2020-11-10T14:09:01Z [Term] id: DOID:0112200 name: spondyloepimetaphyseal dysplasia with joint laxity type 3 def: "A spondyloepimetaphyseal dysplasia with joint laxity characterized by multiple joint dislocations at birth, severe joint laxity, scoliosis, gracile metacarpals and metatarsals, delayed bone age, and poorly ossified carpal and tarsal bones that has_material_basis_in homozygous or compound heterozygous mutation in the EXOC6B gene on chromosome 2p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26669664/ "DO"] synonym: "SEMDJL3" EXACT [] xref: MIM:618395 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112197 ! spondyloepimetaphyseal dysplasia with joint laxity created_by: mtutaj creation_date: 2020-03-11T07:29:20Z [Term] id: DOID:0112201 name: osteogenesis imperfecta type 21 def: "An osteogenesis imperfecta characterized by multiple fractures that often occur after minor trauma, disproportionate short stature, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in KDELR2 on chromosome 7p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33053334/ "DO"] synonym: "OI21" EXACT [] synonym: "osteogenesis imperfecta type XXI" EXACT [] xref: MIM:619131 xref: MONDO:0030861 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12347 ! osteogenesis imperfecta created_by: rgd creation_date: 2017-10-19T15:03:51Z [Term] id: DOID:0112202 name: developmental and epileptic encephalopathy def: "An electroclinical syndrome characterized by epileptiform activity and at least one other pathology that together contribute to cognitive and behavioral impairments including developmental delay or regression with onset anywhere from birth to adulthood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28276062/ "DO", https://pubmed.ncbi.nlm.nih.gov/31926847/ "DO"] synonym: "DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY WITH JOINT LAXITY" NARROW [] synonym: "KCNA3-ASSOCIATED DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY" NARROW [] synonym: "RYR3-RELATED CONDITION" BROAD [] synonym: "RYR3-RELATED EPILEPTIC ENCEPHALOPATHY" NARROW [] synonym: "TMEM63B-ASSOCIATED DISORDER" BROAD [] xref: MIM:PS308350 is_a: DOID:0050701 ! electroclinical syndrome created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112203 name: developmental and epileptic encephalopathy 67 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of lifes of seizures, global developmental delay with impaired motor and intellectual development, poor or absent speech, movement disorders, and stereotypic or autistic behavior that has_material_basis_in heterozygous mutation in the CUX2 gene on chromosome 12q24.11-q24.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29630738/ "DO"] synonym: "DEE67" EXACT [] synonym: "early infantile epileptic encephalopathy 67" EXACT [] synonym: "EIEE67" EXACT [] xref: MIM:618141 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: slaulede creation_date: 2018-10-11T10:53:07Z [Term] id: DOID:0112204 name: developmental and epileptic encephalopathy 68 def: "A developmental and epileptic encephalopathy characterized by progressive development of seizures starting in infancy, developmental delay, axial hypotonia, spasticity of the limbs, clonus, and cortical atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TRAK1 gene on chromosome 3p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28364549/ "DO"] synonym: "DEE68" EXACT [] synonym: "early infantile epileptic encephalopathy 68" EXACT [] synonym: "EIEE68" EXACT [] xref: MIM:618201 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112205 name: developmental and epileptic encephalopathy 69 def: "A developmental and epileptic encephalopathy characterized by early-onset refractory seizures, hypotonia, and profoundly impaired development that has_material_basis_in heterozygous mutation in the CACNA1E gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30343943/ "DO"] synonym: "CACNA1E-RELATED CONDITION" EXACT [] synonym: "DEE69" EXACT [] synonym: "early infantile epileptic encephalopathy 69" EXACT [] synonym: "EIEE69" EXACT [] xref: MIM:618285 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2020-08-17T09:48:43Z [Term] id: DOID:0112206 name: developmental and epileptic encephalopathy 70 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of of epileptic spasms or seizures, hypsarrhythmia on EEG, severely delayed psychomotor development with impaired or absent walking and language skills, and moderate to severe intellectual impairment that has_material_basis_in heterozygous mutation in the PHACTR1 gene on chromosome 6p24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30256902/ "DO"] synonym: "DEE70" EXACT [] synonym: "early infantile epileptic encephalopathy 70" EXACT [] synonym: "EIEE70" EXACT [] xref: MIM:618298 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112207 name: developmental and epileptic encephalopathy 71 def: "A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30575854/ "DO"] synonym: "DEE71" EXACT [] synonym: "early infantile epileptic encephalopathy 71" EXACT [] synonym: "EIEE71" EXACT [] synonym: "glutaminase deficiency with neonatal epileptic encephalopathy" EXACT [] xref: MIM:618328 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:11161 ! neonatal respiratory failure created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112208 name: developmental and epileptic encephalopathy 72 def: "A developmental and epileptic encephalopathy characterized by onset around 5 months of age of infantile spasms, hypsarrhythmia on EEG, and severely delayed psychomotor development with impaired or absent walking and language skills that has_material_basis_in heterozygous mutation in the NEUROD2 gene on chromosome 17q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30323019/ "DO"] synonym: "DEE72" EXACT [] synonym: "early infantile epileptic encephalopathy 72" EXACT [] synonym: "EIEE72" EXACT [] xref: MIM:618374 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112209 name: developmental and epileptic encephalopathy 73 def: "A developmental and epileptic encephalopathy characterized by onset in the months of life of refractory seizures, profound developmental delay, failure to thrive, hypotonia, and are unable to walk, speak, or feed properly that has_material_basis_in heterozygous mutation in the RNF13 gene on chromosome 3q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30595371/ "DO"] synonym: "DEE73" EXACT [] synonym: "early infantile epileptic encephalopathy 73" EXACT [] synonym: "EIEE73" EXACT [] xref: MIM:618379 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112210 name: developmental and epileptic encephalopathy 74 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27864268/ "DO"] synonym: "DEE74" EXACT [] synonym: "early infantile epileptic encephalopathy 74" EXACT [] synonym: "EIEE74" EXACT [] synonym: "GABRG2-RELATED CONDITION" BROAD [] xref: MIM:618396 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T00:00:00Z [Term] id: DOID:0112211 name: developmental and epileptic encephalopathy 75 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of severe refractory seizures, multifocal spikes and hypsarrhythmia on EEG, severely impaired intellectual development with inability to walk, absent speech, and hypotonia with axial hyperreflexia that has_material_basis_in homozygous or compound heterozygous mutation in the PARS2 gene on chromosome 1p32.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29915213/ "DO"] synonym: "DEE75" EXACT [] synonym: "early infantile epileptic encephalopathy 75" EXACT [] synonym: "EIEE75" EXACT [] xref: MIM:618437 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:31:00Z [Term] id: DOID:0112212 name: developmental and epileptic encephalopathy 76 def: "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31031012/ "DO"] synonym: "ACTL6B-RELATED BAFOPATHY" BROAD [] synonym: "ACTL6B-RELATED RECESSIVE EPILEPSY" EXACT [] synonym: "DECAM" EXACT [] synonym: "DEE76" EXACT [] synonym: "developmental delay, epileptic encephalopathy, cerebral atrophy, and abnormal myelination" EXACT [] synonym: "developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination" EXACT [] synonym: "early infantile epileptic encephalopathy 76" EXACT [] synonym: "EIEE76" EXACT [] xref: MIM:618468 xref: NCI:C179296 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:34:11Z [Term] id: DOID:0112213 name: multiple congenital anomalies-hypotonia-seizures syndrome 4 def: "A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31148362/ "DO", https://pubmed.ncbi.nlm.nih.gov/32588908/ "DO"] synonym: "DEE77" EXACT [] synonym: "developmental and epileptic encephalopathy 77" EXACT [] synonym: "early infantile epileptic encephalopathy 77" EXACT [] synonym: "EIEE77" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 19" EXACT [] synonym: "GPIBD19" EXACT [] synonym: "MCAHS4" EXACT [] xref: MIM:618548 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080503 ! multiple congenital anomalies-hypotonia-seizures syndrome is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2021-01-28T21:39:11Z [Term] id: DOID:0112214 name: developmental and epileptic encephalopathy 78 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in the GABRA2 gene on chromosome 4p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29422393/ "DO", https://pubmed.ncbi.nlm.nih.gov/29961870/ "DO"] synonym: "DEE78" EXACT [] synonym: "early infantile epileptic encephalopathy 78" EXACT [] synonym: "EIEE78" EXACT [] synonym: "GABRA2-RELATED CONDITION" BROAD [] xref: MIM:618557 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:44:11Z [Term] id: DOID:0112215 name: developmental and epileptic encephalopathy 79 def: "A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severely impaired psychomotor development, hypomyelination, cerebral atrophy, and thinning of the corpus callosum that has_material_basis_in heterozygous mutation in the GABRA5 gene on chromosome 15q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29961870/ "DO", https://pubmed.ncbi.nlm.nih.gov/31056671/ "DO"] synonym: "DEE79" EXACT [] synonym: "early infantile epileptic encephalopathy 79" EXACT [] synonym: "EIEE79" EXACT [] xref: MIM:618559 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:48:11Z [Term] id: DOID:0112216 name: developmental and epileptic encephalopathy 80 def: "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31256876/ "DO"] synonym: "DEE80" EXACT [] synonym: "early infantile epileptic encephalopathy 80" EXACT [] synonym: "EIEE80" EXACT [] synonym: "glycophosphatidylinositol biosynthesis defect 20" EXACT [] synonym: "glycosylphosphatidylinositol biosynthesis defect 20" EXACT [] synonym: "GPIBD20" EXACT [] xref: MIM:618580 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2021-01-28T21:52:11Z [Term] id: DOID:0112217 name: developmental and epileptic encephalopathy 81 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of severe refractory seizures, little developmental progress, cerebral atrophy, impaired myelination, thin corpus callosum, and progressive leukoencephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DMXL2 gene on chromosome 15q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30237576/ "DO", https://pubmed.ncbi.nlm.nih.gov/31688942/ "DO"] synonym: "DEE81" EXACT [] synonym: "early infantile epileptic encephalopathy 81" EXACT [] synonym: "EIEE81" EXACT [] xref: MIM:618663 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T21:56:11Z [Term] id: DOID:0112218 name: developmental and epileptic encephalopathy 83 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31820119/ "DO"] synonym: "Barakat-Perenthaler syndrome" EXACT [] synonym: "DEE83" EXACT [] synonym: "early infantile epileptic encephalopathy 83" EXACT [] synonym: "EIEE83" EXACT [] xref: MIM:618744 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:00:11Z [Term] id: DOID:0112219 name: developmental and epileptic encephalopathy 84 def: "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of refractory seizures, severely impaired global development, impaired intellectual development, absent speech, and inability to walk that has_material_basis_in homozygous or compound heterozygous mutation in the UGDH gene on chromosome 4p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32001716/ "DO"] synonym: "DEE84" EXACT [] synonym: "early infantile epileptic encephalopathy 84" EXACT [] synonym: "EIEE84" EXACT [] synonym: "Jamuar syndrome" EXACT [] xref: MIM:618792 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:04:11Z [Term] id: DOID:0112220 name: developmental and epileptic encephalopathy 86 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the DALRD2 gene on chromosome 3p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32427860/ "DO"] synonym: "DEE86" EXACT [] synonym: "early infantile epileptic encephalopathy 86" EXACT [] synonym: "EIEE86" EXACT [] xref: MIM:618910 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:07:11Z [Term] id: DOID:0112221 name: developmental and epileptic encephalopathy 87 def: "A developmental and epileptic encephalopathy characterized by global developmental delay, severely impaired motor and cognitive development, hypotonia, and onset of frequent refractory seizures or infantile spasms between 6 and 15 months of age that has_material_basis_in heterozygous mutation in the CDK19 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32330417/ "DO"] synonym: "DEE87" EXACT [] synonym: "early infantile epileptic encephalopathy 87" EXACT [] synonym: "EIEE87" EXACT [] xref: MIM:618916 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:11:11Z [Term] id: DOID:0112222 name: developmental and epileptic encephalopathy 88 def: "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the MDH1 gene on chromosome 2p15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31538237/ "DO"] synonym: "DEE88" EXACT [] synonym: "early infantile epileptic encephalopathy 88" EXACT [] synonym: "EIEE88" EXACT [] xref: MIM:618959 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:15:11Z [Term] id: DOID:0112223 name: developmental and epileptic encephalopathy 89 def: "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32282878/ "DO"] synonym: "DEE89" EXACT [] synonym: "early infantile epileptic encephalopathy 89" EXACT [] xref: MIM:619124 is_a: DOID:0050709 ! early infantile epileptic encephalopathy is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-01-28T22:22:11Z [Term] id: DOID:0112224 name: chondrodysplasia with joint dislocations gPAPP type def: "An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21549340/ "DO", https://pubmed.ncbi.nlm.nih.gov/22887726/ "DO"] synonym: "GPAPP deficiency" EXACT [] xref: GARD:11009 xref: MIM:614078 xref: MONDO:0013561 xref: ORDO:280586 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005077 ! Joint Instability created_by: mtutaj creation_date: 2020-01-30T13:07:42Z [Term] id: DOID:0112225 name: BH4-deficient hyperphenylalaninemia B alt_id: MIM:233910 def: "A tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia that is characterized by hyperphenylalaninemia, depletion of the neurotransmitters dopamine and serotonin, and progressive cognitive and motor deficits that has_material_basis_in homozygous or compound heterozygous mutation in the GCH1 gene on chromosome 14q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7869202/ "DO"] synonym: "DYSTONIA, DOPA-RESPONSIVE, WITH OR WITHOUT HYPERPHENYLALANINEMIA, AUTOSOMAL RECESSIVE" NARROW [] synonym: "GTP cyclohydrolase 1 deficiency" EXACT [] synonym: "GTP Cyclohydrolase I Deficiency" EXACT [] synonym: "HPABH4B" EXACT [] synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia B" EXACT [] synonym: "tetrahydrobiopterin-deficient hyperphenylalaninemia due to GTP cyclohydrolase I deficiency" EXACT [] xref: MESH:C562656 xref: NCI:C141442 xref: ORDO:2102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081132 ! tetrahydrobiopterin (BH4)-deficient hyperphenylalaninemia is_a: DOID:9281 ! phenylketonuria created_by: mtutaj creation_date: 2021-01-28T22:30:11Z [Term] id: DOID:0112226 name: Bosch-Boonstra-Schaaf optic atrophy syndrome alt_id: DOID:9002038 def: "A syndrome characterized by delayed development, moderate intellectual disability, and optic atrophy that has_material_basis_in heterozygous mutation in the NR2F1 gene on chromosome 5q15. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24462372/ "DO"] synonym: "BBSOAS" EXACT [] synonym: "Bosch-Boonstra optic atrophy syndrome" RELATED [] synonym: "optic atrophy-intellectual disability syndrome" EXACT [] xref: MIM:615722 xref: ORDO:401777 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2020-02-18T11:48:34Z [Term] id: DOID:0112227 name: tubulinopathy def: "A congenital nervous system abnormality characterized by complex cortical malformations including in most cases dysmorphic basal ganglia that has_material_basis_in mutation in one or more of the tubulin genes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24860126/ "DO", https://pubmed.ncbi.nlm.nih.gov/31386652/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK350554/ "DO"] xref: EFO:0020030 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2490 ! congenital nervous system abnormality created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0112228 name: lissencephaly 9 with complex brainstem malformation alt_id: DOID:9005346 def: "A lissencephaly characterized by global developmental delay, impaired intellectual development with poor or absent speech, pachygyria, lissencephaly, and malformation of the brainstem that has_material_basis_in heterozygous mutation in the MACF1 gene on chromosome 1p34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24507697/ "DO", https://pubmed.ncbi.nlm.nih.gov/30471716/ "DO"] synonym: "LIS9" EXACT [] synonym: "lissencephaly 9" EXACT [] synonym: "LISSENCEPHALY WITH BRAINSTEM HYPOPLASIA" EXACT [] synonym: "lissencephaly with decussation defect" EXACT [] synonym: "MACF1-RELATED CONDITION" EXACT [] synonym: "posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome" EXACT [] synonym: "SPECTRAPLAKINOPATHY TYPE I" EXACT [] xref: MIM:618325 xref: ORDO:572013 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0112229 name: lissencephaly 10 alt_id: DOID:9006184 def: "A lissencephaly characterized by variably delayed development, mildly to moderately impaired intellectual development and language delay, seizures, brain features consistent with neuronal migration defects that has_material_basis_in heterozygous mutation in the CEP85L gene on chromosome 6q22.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32097630/ "DO"] synonym: "LIS10" EXACT [] xref: MIM:618873 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease created_by: mtutaj creation_date: 2021-03-29T19:36:11Z [Term] id: DOID:0112230 name: lissencephaly 5 alt_id: DOID:9004164 def: "A lissencephaly characterized by hydrocephalus, seizures, severely delayed psychomotor development, and cobblestone changes in the cortex, more severe in the posterior region, and subcortical band heterotopia that has_material_basis_in homozygous or compound heterozygous mutation in the LAMB1 gene on chromosome 7q31.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23472759/ "DO", https://pubmed.ncbi.nlm.nih.gov/25925986/ "DO"] synonym: "LAMB1-RELATED CONDITION" EXACT [] synonym: "LIS5" EXACT [] xref: MIM:615191 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2021-03-29T19:39:11Z [Term] id: DOID:0112231 name: lissencephaly 7 with cerebellar hypoplasia alt_id: DOID:9002648 def: "A lissencephaly characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the CDK5 gene on chromosome 7q36.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25560765/ "DO"] synonym: "LIS7" EXACT [] xref: MIM:616342 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070338 ! cerebellar hypoplasia created_by: mtutaj creation_date: 2021-03-29T19:42:11Z [Term] id: DOID:0112232 name: lissencephaly 3 alt_id: DOID:9000102 alt_id: MIM:611603 def: "A lissencephaly characterized by brain malformations, microcephaly, developmental delay and epilepsy that has_material_basis_in heterozygous mutation in the TUBA1A gene on chromosome 12q13.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17218254/ "DO", https://pubmed.ncbi.nlm.nih.gov/30744660/ "DO"] synonym: "LIS3" EXACT [] synonym: "LISSENCEPHALY DUE TO TUBA1A MUTATION" EXACT [] synonym: "LISSENCEPHALY TYPE 3" EXACT [] synonym: "TUBA1A-ASSOCIATED TUBULINOPATHY" EXACT [] synonym: "TUBA1A-RELATED CONDITION" EXACT [] synonym: "TUBULINOPATHIES" BROAD [] synonym: "TUBULINOPATHY" BROAD [] synonym: "TUBULINOPATHY-ASSOCIATED DYSGYRIA" EXACT [] xref: MESH:C566908 xref: NCI:C148461 xref: ORDO:171680 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly created_by: mtutaj creation_date: 2021-03-29T19:45:11Z [Term] id: DOID:0112233 name: lissencephaly 8 alt_id: DOID:9003247 def: "A lissencephaly characterized by delayed psychomotor development, intellectual disability with poor or absent speech, early-onset refractory seizures, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TMTC3 gene on chromosome 12q21.32. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27773428/ "DO"] synonym: "LIS8" EXACT [] xref: MIM:617255 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050737 ! autosomal recessive disease created_by: mtutaj creation_date: 2021-03-29T19:49:11Z [Term] id: DOID:0112234 name: microlissencephaly def: "A lissencephaly characterized by lissencephaly in combination with severe congenital microcephaly. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9588537/ "DO"] synonym: "microlissencephalies" EXACT [] xref: ORDO:1083 is_a: DOID:0050453 ! lissencephaly created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:0112235 name: lissencephaly 4 alt_id: DOID:9008921 def: "A microlissencephaly characterized by lissencephaly, severe brain atrophy, extreme microcephaly, and profound intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the NDE1 gene on chromosome 16p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21529751/ "DO", https://pubmed.ncbi.nlm.nih.gov/21529752/ "DO"] synonym: "LIS4" EXACT [] synonym: "lissencephaly 4 with microcephaly" EXACT [] xref: MIM:614019 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112234 ! microlissencephaly is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly created_by: mtutaj creation_date: 2021-03-29T20:01:11Z [Term] id: DOID:0112236 name: lissencephaly 6 alt_id: DOID:9008089 def: "A microlissencephaly characterized by severe microcephaly, developmental delay, lissencephaly, pachygyria, and hypoplasia of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the KATNB1 gene on chromosome 16q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25521378/ "DO", https://pubmed.ncbi.nlm.nih.gov/25521379/ "DO"] synonym: "KATNB1-RELATED CONDITION" EXACT [] synonym: "LIS6" EXACT [] synonym: "lissencephaly 6 with microcephaly" EXACT [] xref: MIM:616212 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112234 ! microlissencephaly is_a: DOID:10907 ! microcephaly created_by: mtutaj creation_date: 2021-03-29T00:00:00Z [Term] id: DOID:0112237 name: lissencephaly 1 def: "A lissencephaly characterized by an abnormally thick cortex, reduced or abnormal lamination, and diffuse neuronal heterotopia that has_material_basis_in mutation heterozygous in the PAFAH1B1 gene on chromosome 17p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11754098/ "DO", https://pubmed.ncbi.nlm.nih.gov/12668601/ "DO"] synonym: "ILS" EXACT [] synonym: "LIS1" EXACT [] synonym: "LISSENCEPHALY, CLASSIC" EXACT [] synonym: "LISSENCEPHALY SEQUENCE, ISOLATED" EXACT [] synonym: "PAFAH1B1-ASSOCIATED LISSENCEPHALY/SUBCORTICAL BAND HETEROTOPIA" BROAD [] synonym: "PAFAH1B1-RELATED CONDITION" BROAD [] synonym: "PAFAH1B1-related lissencephaly" EXACT [] synonym: "SBH" RELATED [] synonym: "SCLH" RELATED [] synonym: "SUBCORTICAL BAND HETEROTOPIA" RELATED [] synonym: "SUBCORTICAL LAMINAR HETEROTOPIA" RELATED [] xref: MIM:607432 xref: ORDO:95232 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0050736 ! autosomal dominant disease created_by: rgd creation_date: 2015-06-18T00:00:00Z [Term] id: DOID:0112238 name: X-linked lissencephaly 2 alt_id: DOID:9006520 alt_id: MIM:300215 def: "A lissencephaly characterized by structural brain anomalies, early-onset intractable seizures, severe psychomotor retardation, and ambiguous genitalia that has_material_basis_in mutation in ARX on chromosome Xp21.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11891829/ "DO", https://pubmed.ncbi.nlm.nih.gov/12379852/ "DO"] synonym: "hydranencephaly and abnormal genitalia" EXACT [] synonym: "hydranencephaly with abnormal genitalia" EXACT [] synonym: "LISX2" EXACT [] synonym: "XLAG" EXACT [] synonym: "XLAG (X-linked lissencephaly with abnormal genitalia) syndrome" EXACT [] synonym: "X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome" EXACT [] synonym: "X-linked lissencephaly with abnormal genitalia" EXACT [] synonym: "X-linked lissencephaly with ambiguous genitalia" EXACT [] synonym: "XLIS2" EXACT [] synonym: "XLISG" EXACT [] xref: MESH:C564563 xref: ORDO:452 is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias created_by: mtutaj creation_date: 2021-03-29T21:07:11Z [Term] id: DOID:0112239 name: X-linked lissencephaly 1 def: "A lissencephaly characterized by classic lissencephaly and intellectual disability in males that has_material_basis_in mutation in DCX on chromosome Xq23. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9132485/ "DO", https://pubmed.ncbi.nlm.nih.gov/9489699/ "DO"] synonym: "lissencephalies type 1" EXACT [] synonym: "Lissencephaly 1" EXACT [] synonym: "Lissencephaly Type 1" EXACT [] synonym: "lissencephaly type 1 due to doublecortin gene mutation" EXACT [] synonym: "LISX1" EXACT [] synonym: "XLIS1" EXACT [] xref: MIM:300067 is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias created_by: mtutaj creation_date: 2021-03-29T21:11:11Z [Term] id: DOID:0112240 name: Leber congenital amaurosis with early-onset deafness alt_id: DOID:9009120 def: "A sensory system disease characterized by early-onset and severe photoreceptor and cochlear cell loss that has_material_basis_in heterozygous mutation in the TUBB4B gene on chromosome 9q34.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29198720/ "DO"] synonym: "LCAEOD" EXACT [] xref: MIM:617879 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:14791 ! Leber congenital amaurosis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:0112241 name: multiple benign circumferential skin creases on limbs alt_id: DOID:9002281 def: "A skin disease characterized by benign circumferential skin creases, mainly on the limbs, due to folding of excess skin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26637975/ "DO"] synonym: "CCSF" EXACT [] synonym: "CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE" EXACT [] synonym: "congenital circumferential skin folds" EXACT [] synonym: "Congenital Symmetric Circumferential Skin Creases" EXACT [] synonym: "Kunze Riehm syndrome" EXACT [] synonym: "Michelin Tire Baby Syndrome" EXACT [] synonym: "multiple benign ring-shaped skin creases of limbs" EXACT [] xref: GARD:3589 xref: MESH:C537575 xref: MIM:PS156610 xref: ORDO:2505 is_a: DOID:1059 ! intellectual disability is_a: DOID:3144 ! cutis laxa is_a: DOID:674 ! cleft palate is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007253 ! Hamartoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:0112242 name: congenital symmetric circumferential skin creases 1 alt_id: DOID:9005935 def: "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the TUBB gene on chromosome 6p21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26637975/ "DO"] synonym: "CSCSC1" NARROW [] synonym: "TUBB-RELATED CONDITION" BROAD [] xref: MIM:156610 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112241 ! multiple benign circumferential skin creases on limbs created_by: mtutaj creation_date: 2021-03-29T21:24:11Z [Term] id: DOID:0112243 name: congenital symmetric circumferential skin creases 2 alt_id: DOID:9008922 def: "A multiple benign circumferential skin creases on limbs characterized by folding of excess skin, which leads to ringed creases, primarily of the limbs, intellectual disability, cleft palate, and dysmorphic features that has_material_basis_in heterozygous mutation in the MAPRE2 gene on chromosome 18q12.1-q12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26637975/ "DO"] synonym: "CSCSC2" EXACT [] xref: MIM:616734 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112241 ! multiple benign circumferential skin creases on limbs created_by: mtutaj creation_date: 2021-03-29T21:29:11Z [Term] id: DOID:0112244 name: alopecia, neurologic defects, and endocrinopathy syndrome alt_id: DOID:9003428 alt_id: MIM:612079 def: "A syndrome characterized by alopecia, neurologic defects, and endocrinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the RBM28 gene on chromosome 7q32.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18439547/ "DO"] synonym: "alopecia-progressive neurological defect-endocrinopathy syndrome" EXACT [] synonym: "ANES" EXACT [] synonym: "ANE Syndrome" EXACT [] xref: MESH:C567425 xref: ORDO:157954 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:28 ! endocrine system disease is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2021-03-29T21:33:11Z [Term] id: DOID:0112245 name: focal segmental glomerulosclerosis 3 alt_id: DOID:9000237 def: "A focal segmental glomerulosclerosis that has_material_basis_in loss of function mutation in the CD2AP gene on chromosome 6p12.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12764198/ "DO"] synonym: "CD2AP-RELATED CONDITION" EXACT [] synonym: "focal segmental glomerulosclerosis 3, susceptibility to" RELATED [] synonym: "FSGS3" EXACT [] xref: MIM:607832 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:1312 ! focal segmental glomerulosclerosis created_by: mtutaj creation_date: 2021-03-29T21:36:11Z [Term] id: DOID:0112246 name: glutaric acidemia type 3 alt_id: DOID:9004214 alt_id: MIM:231690 def: "A peroxisomal disease characterized by isolated accumulation of glutaric acid in the absence of other clinical phenotype that has_material_basis_in homozygous or compound heterozygous mutation in the SUGCT gene on chromosome 7p14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23893049/ "DO"] synonym: "GA3" EXACT [] synonym: "GA III" EXACT [] synonym: "glutaric aciduria 3" EXACT [] synonym: "Glutaric Aciduria III" EXACT [] synonym: "glutaric aciduria type 3" EXACT [] synonym: "Glutaryl-CoA Oxidase Deficiency" EXACT [] xref: GARD:12469 xref: MESH:C562818 xref: ORDO:35706 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009132 ! Glutaric Aciduria is_a: DOID:906 ! peroxisomal disease created_by: mtutaj creation_date: 2021-03-29T21:40:11Z [Term] id: DOID:0112247 name: congenital heart defects, dysmorphic facial features, and intellectual developmental disorder alt_id: DOID:9003115 def: "A syndrome characterized by congenital heart defects, dysmorphic facial features, and impaired intellectual developmental that has_material_basis_in heterozygous mutation in the CDK13 gene on chromosome 7p14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27479907/ "DO", https://pubmed.ncbi.nlm.nih.gov/29021403/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK536784/ "DO"] synonym: "CDK13-Related CHDFIDD" EXACT [] synonym: "CDK13-RELATED CONDITION" EXACT [] synonym: "CDK13-Related Disorder" EXACT [] synonym: "CHDFIDD" EXACT [] xref: MIM:617360 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-03-29T21:44:11Z [Term] id: DOID:0112248 name: 17-beta hydroxysteroid dehydrogenase 3 deficiency alt_id: DOID:9005168 def: "A pseudohermaphroditism characterized by undermasculinization in males including hypoplastic-to-normal internal genitalia with female external genitalia and the absence of a prostate, impaired testicular synthesis of testosterone resulting in insufficient formation of dihydrotestosterone during fetal development and resulting in pseudohermaphroditism in males that has_material_basis_in homozygous or compound heterozygous mutation of the HSD17B3 gene on chromosome 9q22. (DO)" [https://medlineplus.gov/genetics/condition/17-beta-hydroxysteroid-dehydrogenase-3-deficiency/ "DO", https://pubmed.ncbi.nlm.nih.gov/11158067/ "DO", https://pubmed.ncbi.nlm.nih.gov/8550739/ "DO"] synonym: "17-alpha ketosteroid reductase deficiency of testis" EXACT [] synonym: "17-beta-hydroxysteroid dehydrogenase deficiency" EXACT [] synonym: "17-Beta Hydroxysteroid Dehydrogenase III Deficiency" EXACT [] synonym: "17-Hydroxysteroid Dehydrogenase Deficiency" EXACT [] synonym: "17-ketoreductase deficiency" EXACT [] synonym: "17-ketosteroidreductase deficiency" EXACT [] synonym: "17-Ketosteroid Reductase Deficiency Of Testis" EXACT [] synonym: "17-Ksr Deficiency" EXACT [] synonym: "46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency" EXACT [] synonym: "Male pseudohermaphroditism with gynecomastia" EXACT [] synonym: "neutral 17-beta-hydroxysteroid oxidoreductase deficiency" EXACT [] synonym: "PSEUDOHERMAPHRODITISM, MALE, WITH GYNECOMASTIA POLYCYSTIC OVARIAN DISEASE DUE TO 17-KETOSTEROID REDUCTASE DEFICIENCY" NARROW [] synonym: "TESTOSTERONE 17-BETA-DEHYDROGENASE DEFICIENCY" RELATED [] xref: GARD:5659 xref: MESH:C537805 xref: MIM:264300 xref: MONDO:0009916 xref: NCI:C120203 xref: ORDO:752 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12698 ! gynecomastia is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:3765 ! pseudohermaphroditism is_a: DOID:9003766 ! 46, XY Disorders of Sex Development created_by: mtutaj creation_date: 2021-03-29T21:54:11Z [Term] id: DOID:0112249 name: GAPO syndrome alt_id: DOID:9008322 alt_id: MIM:230740 def: "A syndrome characterized by growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25045128/ "DO", https://pubmed.ncbi.nlm.nih.gov/6507471/ "DO"] synonym: "GAPOS" EXACT [] synonym: "growth delay-alopecia-pseudoanodontia-optic atrophy syndrome" EXACT [] synonym: "Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy" EXACT [] synonym: "Odontotrichomelic Syndrome" EXACT [] synonym: "tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities" EXACT [] xref: MESH:C535642 xref: ORDO:2067 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:13714 ! anodontia is_a: DOID:225 ! syndrome is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2021-03-29T21:57:11Z [Term] id: DOID:0112250 name: Gaucher's disease type IIIC alt_id: DOID:9007825 alt_id: MIM:231005 def: "A Gaucher's disease type III characterized by additional presence of cardiovascular calcifications that has_material_basis_in homozygosity for an asp409-to-his (D409H) mutation in the GBA1 gene on chromosome 1q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10636167/ "DO"] synonym: "cardiovascular Gaucher disease" EXACT [] synonym: "Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome" EXACT [] synonym: "Gaucher disease type 3C" EXACT [] synonym: "Gaucher Disease, Type IIIc" EXACT [] synonym: "GD3C" EXACT [] xref: MESH:C565553 xref: ORDO:2072 is_a: DOID:0110959 ! Gaucher's disease type III created_by: mtutaj creation_date: 2021-03-29T22:00:11Z [Term] id: DOID:0112251 name: Ghosal hematodiaphyseal syndrome alt_id: DOID:9003776 alt_id: MIM:231095 def: "A syndrome characterized by increased bone density with predominant diaphyseal involvement and aregenerative corticosteroid-sensitive anemia that has_material_basis_in homozygous or compound heterozygous mutation in TBXAS1 on chromosome 7q34. (DO)" [https://medlineplus.gov/genetics/condition/ghosal-hematodiaphyseal-dysplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/18264100/ "DO", https://pubmed.ncbi.nlm.nih.gov/3385529/ "DO"] synonym: "diaphyseal dysplasia-anemia syndrome" EXACT [] synonym: "GHDD" EXACT [] synonym: "Ghosal Hematodiaphyseal Dysplasia" EXACT [] synonym: "Ghosal Syndrome" EXACT [] synonym: "TBXAS1-RELATED CONDITION" EXACT [] xref: GARD:10297 xref: MESH:C565551 xref: ORDO:1802 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9000300 ! Refractory Anemia created_by: mtutaj creation_date: 2021-03-29T21:03:11Z [Term] id: DOID:0112252 name: glutathione synthetase deficiency of erythrocytes alt_id: DOID:9006583 def: "A glutathione synthetase deficiency characterized by hemolytic anemia and deficiency in GSH that is limited to the red blood cells, with nucleated cells able to maintain normal or near normal expression levels that has_material_basis_in homozygous or compound heterozygous mutation in GSS on chromosome 20q11.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/5476481/ "DO", https://pubmed.ncbi.nlm.nih.gov/659603/ "DO", https://pubmed.ncbi.nlm.nih.gov/8896573/ "DO"] synonym: "CNSHA6" EXACT [] synonym: "congenital nonspherocytic hemolytic anemia 6" EXACT [] synonym: "glutathione synthetase deficiency without 5-oxoprolinuria" EXACT [] synonym: "GSSDE" EXACT [] synonym: "hemolytic anemia due to glutathione synthetase deficiency" EXACT [] synonym: "hemolytic anemia due to glutathione synthetase deficiency of erythrocytes" EXACT [] xref: MESH:C565545 xref: MIM:231900 xref: MONDO:0009284 xref: ORDO:289849 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080699 ! glutathione synthetase deficiency is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia created_by: mtutaj creation_date: 2021-03-29T21:06:11Z [Term] id: DOID:0112253 name: combined cellular and humoral immune defects with granulomas alt_id: DOID:9008188 alt_id: MIM:233650 def: "A combined immunodeficiency characterized by combined cellular and humoral deficiencies and multiple granulomas that has_material_basis_in homozyous or compound heterozygous mutation in the RAG1 gene or the RAG2 gene on chromosome 11p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18463379/ "DO"] synonym: "CCHIDG" EXACT [] synonym: "CID due to RAG 1/2 deficiency" EXACT [] synonym: "combined immunodeficiency due to RAG 1/2 deficiency" EXACT [] synonym: "combined immunodeficiency with granulomatosis" EXACT [] synonym: "COMBINED IMMUNODEFICIENCY WITH SKIN GRANULOMAS" EXACT [] xref: GARD:13587 xref: MESH:C567115 xref: ORDO:157949 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:3265 ! chronic granulomatous disease created_by: mtutaj creation_date: 2021-03-29T21:09:11Z [Term] id: DOID:0112254 name: hepatic venoocclusive disease with immunodeficiency alt_id: DOID:9008664 alt_id: MIM:235550 def: "A syndrome characterized by severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells, hepatic vascular occlusion, and fibrosis that has_material_basis_in homozygous or compound heterozygous mutation in the SP110 gene on chromosome 2q37.1. (DO)" [https://medlineplus.gov/genetics/condition/hepatic-veno-occlusive-disease-with-immunodeficiency/ "DO", https://pubmed.ncbi.nlm.nih.gov/16648851/ "DO"] synonym: "Familial Veno-Occlusive Disease with Immunodeficiency" EXACT [] synonym: "hepatic veno-occlusive disease-immunodeficiency syndrome" EXACT [] synonym: "Hepatic Veno-Occlusive Disease with Immunodeficiency" EXACT [] synonym: "Veno-Occlusive Disease and Immunodeficiency Syndrome" EXACT [] synonym: "VODI" EXACT [] xref: GARD:10083 xref: MESH:C537257 xref: ORDO:79124 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080177 ! hepatic veno-occlusive disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-03-29T21:13:11Z [Term] id: DOID:0112255 name: homocystinuria-megaloblastic anemia cblE type alt_id: DOID:9005758 def: "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in the MTRR gene on chromosome 5p15.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3384945/ "DO"] synonym: "functional methionine synthase deficiency type cblE" EXACT [] synonym: "HMAE" EXACT [] synonym: "HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA, cblE COMPLEMENTATION TYPE" EXACT [] synonym: "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism, cblE complementation type" EXACT [] synonym: "Methylcobalamin Deficiency, CblE Type" EXACT [] synonym: "Vitamin B12-Responsive Homocystinuria, CblE Type" EXACT [] xref: MESH:C565510 xref: MIM:236270 xref: MONDO:0009354 xref: NCI:C142173 xref: ORDO:2169 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009103 ! Homocystinuria-Megaloblastic Anemia created_by: mtutaj creation_date: 2021-03-29T21:17:11Z [Term] id: DOID:0112256 name: homocystinuria-megaloblastic anemia cblG type def: "An amino acid metabolic disorder characterized by failure of cells to incorporate methyltetrahydrofolate into methionine, impaired methionine synthase activity in the presence of a reducing agent, and somewhat variable features that include delayed psychomotor development, hypotonia, megaloblastic anemia, homocystinuria, and hypomethioninemia that has_material_basis_in homozygous or compound heterozygous mutation in MTR on chromosome 1q43. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3384945/ "DO", https://pubmed.ncbi.nlm.nih.gov/8968737/ "DO"] synonym: "homocystinuria-megaloblastic anemia due to defect in cobalamin metabolism cblG complementation type" EXACT [] synonym: "methylcobalamin deficiency, cblG type" EXACT [] xref: GARD:3577 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9009103 ! Homocystinuria-Megaloblastic Anemia created_by: mtutaj creation_date: 2021-03-29T21:20:11Z [Term] id: DOID:0112257 name: hydroxykynureninuria alt_id: DOID:9002475 alt_id: MIM:236800 def: "An amino acid metabolic disorder characterized by impaired tryptophan metabolism resulting in high urinary excretion of kynurenine, xanthurenic acid and 3-hydroxykynurenine that has_material_basis_in homozygous or compound heterozygous mutation in the KYNU gene on chromosome 2q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17334708/ "DO"] synonym: "kynureninase deficiency" EXACT [] synonym: "KYNURENINASE DEFICIENCY, PARTIAL" EXACT [] synonym: "xanthurenic aciduria" EXACT [] xref: GARD:10039 xref: MESH:C536081 xref: ORDO:79155 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2021-03-29T22:30:11Z [Term] id: DOID:0112258 name: N-acetylglutamate synthase deficiency alt_id: DOID:9005654 alt_id: MIM:237310 def: "A urea cycle disorder characterized by accumulation of ammonia in the blood that has_material_basis_in homozygous or compound heterozygous mutation in the NAGS gene on chromosome 17q21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12594532/ "DO", https://pubmed.ncbi.nlm.nih.gov/3139931/ "DO"] synonym: "hyperammonemia due to N-acetylglutamate synthase deficiency" EXACT [] synonym: "Hyperammonemia due to N-Acetylglutamate Synthetase Deficiency" EXACT [] synonym: "N-Acetyl Glutamate Synthetase Deficiency" EXACT [] synonym: "N-Acetylglutamate Synthetase Deficiency" EXACT [] synonym: "NAGSD" EXACT [] synonym: "NAGS deficiency" EXACT [] synonym: "NAG synthetase deficiency" EXACT [] xref: GARD:7158 xref: MESH:C536109 xref: NCI:C129307 xref: ORDO:927 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9267 ! urea cycle disorder created_by: mtutaj creation_date: 2021-03-29T22:34:11Z [Term] id: DOID:0112259 name: Leydig cell hypoplasia alt_id: DOID:9001157 alt_id: MIM:238320 def: "A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://medlineplus.gov/genetics/condition/leydig-cell-hypoplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/7719343/ "DO"] synonym: "46,XY Disorder of Sex Development Due To LH Defects" EXACT [] synonym: "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT [] synonym: "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [] synonym: "46,XY DSD due to LH resistance or LHB deficiency" EXACT [] synonym: "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT [] synonym: "Leydig Cell Agenesis" EXACT [] synonym: "Leydig Cell Hypoplasia with Male Pseudohermaphroditism" EXACT [] synonym: "LH Resistance Due To LH Receptor Deactivation" EXACT [] synonym: "LUTEINIZING HORMONE RESISTANCE, FEMALE" NARROW [] synonym: "Male Hypergonadotropic Hypogonadism Due To LHCGR Defect" EXACT [] xref: GARD:3244 xref: MESH:C562567 xref: ORDO:755 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3765 ! pseudohermaphroditism is_a: DOID:9003766 ! 46, XY Disorders of Sex Development created_by: mtutaj creation_date: 2021-03-29T22:42:11Z [Term] id: DOID:0112260 name: Leydig cell hypoplasia type I def: "A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10714363/ "DO", https://pubmed.ncbi.nlm.nih.gov/11041448/ "DO"] synonym: "46,XY disorder of sex development due to complete LH receptor inactivation" EXACT [] synonym: "46,XY disorder of sex development due to complete LH resistance" EXACT [] synonym: "46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation" EXACT [] synonym: "46,XY disorder of sex development due to complete luteinizing hormone resistance" EXACT [] synonym: "46,XY DSD due to complete LH receptor inactivation" EXACT [] synonym: "46,XY DSD due to complete LH resistance" EXACT [] synonym: "46,XY DSD due to complete luteinizing hormone receptor inactivation" EXACT [] synonym: "46,XY DSD due to complete luteinizing hormone resistance" EXACT [] synonym: "Leydig Cell Hypoplasia, Complete" EXACT [] synonym: "Leydig cell hypoplasia due to complete LH receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to complete luteinizing hormone resistance" EXACT [] synonym: "Leydig Cell Hypoplasia, Type 1" EXACT [] synonym: "LEYDIG HYPOPLASIA, TYPE I" EXACT [] xref: ORDO:96265 is_a: DOID:0112259 ! Leydig cell hypoplasia created_by: mtutaj creation_date: 2021-03-29T23:32:11Z [Term] id: DOID:0112261 name: Leydig cell hypoplasia type II def: "A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11041448/ "DO"] synonym: "46,XY disorder of sex development due to partial LH receptor inactivation" EXACT [] synonym: "46,XY disorder of sex development due to partial LH resistance" EXACT [] synonym: "46,XY disorder of sex development due to partial luteinizing hormone resistance" EXACT [] synonym: "46,XY DSD due to partial LH receptor inactivation" EXACT [] synonym: "46,XY DSD due to partial LH resistance" EXACT [] synonym: "46,XY DSD due to partial luteinizing hormone resistance" EXACT [] synonym: "Leydig cell hypoplasia due to partial LH receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to partial LH resistance" EXACT [] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation" EXACT [] synonym: "Leydig cell hypoplasia due to partial luteinizing hormone resistance" EXACT [] synonym: "LEYDIG CELL HYPOPLASIA, PARTIAL" EXACT [] xref: ORDO:96266 is_a: DOID:0112259 ! Leydig cell hypoplasia created_by: mtutaj creation_date: 2021-03-29T23:36:11Z [Term] id: DOID:0112262 name: leucine-sensitive hypoglycemia of infancy alt_id: DOID:9004440 alt_id: MIM:240800 def: "An amino acid metabolic disorder characterized by development of hypoglycemia after high-protein feedings or leucine infusion that has_material_basis_in heterozygous mutation in the SUR1 gene on chromosome 11p15.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15356046/ "DO"] synonym: "leucine-induced hypoglycemia" EXACT [] synonym: "LIH" EXACT [] xref: EFO:0006856 xref: GARD:9915 xref: MESH:C537150 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9993 ! hypoglycemia created_by: mtutaj creation_date: 2021-03-29T23:41:11Z [Term] id: DOID:0112263 name: hypoinsulinemic hypoglycemia with hemihypertrophy alt_id: DOID:9001032 def: "An inherited metabolic disorder characterized by neonatal macrosomia, asymmetrical overgrowth, and recurrent, severe hypoinsulinemic hypoglycemia in infancy that has_material_basis_in heterozygous activating mutation in the AKT2 gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21979934/ "DO"] synonym: "HIHGHH" EXACT [] synonym: "hypoinsulinemic hypoglycemia and body hemihypertrophy" EXACT [] synonym: "HYPOINSULINEMIC HYPOGLYCEMIA AND HEMIHYPERTROPHY" EXACT [] xref: MIM:240900 xref: ORDO:293964 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9006378 ! Facial Hemihypertrophy is_a: DOID:9993 ! hypoglycemia created_by: mtutaj creation_date: 2021-03-29T23:45:11Z [Term] id: DOID:0112264 name: Woodhouse-Sakati syndrome alt_id: DOID:9007524 def: "A syndrome characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia that has_material_basis_in homozygous or compound heterozygous mutation in the DCAF17 gene on chromosome 2q31.1. (DO)" [https://medlineplus.gov/genetics/condition/woodhouse-sakati-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/19026396/ "DO", https://pubmed.ncbi.nlm.nih.gov/6876115/ "DO"] synonym: "diabetes-hypogonadism-deafness-intellectual disability syndrome" EXACT [] synonym: "diabetes-hypogonadism-hearing loss-intellectual disability syndrome" EXACT [] synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome" EXACT [] synonym: "hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome" EXACT [] synonym: "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, alopecia" EXACT [] synonym: "progressive extrapyramidal disorder with primary hypogonadism, mental retardation, and alopecia" EXACT [] synonym: "WDSKS" EXACT [] synonym: "WSS" EXACT [] xref: GARD:5592 xref: MESH:C536742 xref: MIM:241080 xref: MONDO:0009419 xref: ORDO:3464 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:679 ! basal ganglia disease is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9351 ! diabetes mellitus is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2021-03-29T23:49:11Z [Term] id: DOID:0112265 name: iminoglycinuria alt_id: DOID:9007948 alt_id: MIM:242600 def: "A renal tubular transport disease characterized by impaired renal tube reabsorption of proline, hydroxyproline and glycine and elevated urine levels of the imino acids and glycine that has_material_basis_in homozygous mutation in SLC36A2 on chromosome 5q33.1 combined with either heterozygous mutation in SLC6A20 gene on chromosome 3p21.31 or homozygous mutation in SLC6A19 on chromosome 5p15.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19033659/ "DO"] xref: GARD:8424 xref: MESH:C536285 xref: ORDO:42062 is_a: DOID:0080578 ! digenic disease is_a: DOID:447 ! renal tubular transport disease created_by: mtutaj creation_date: 2021-03-29T23:53:11Z [Term] id: DOID:0112266 name: nephrotic syndrome type 23 alt_id: DOID:9005998 def: "A familial nephrotic syndrome characterized by onset of proteinuria in the first or second decade of life, mesangial hypercellularity, focal segmental glomerulosclerosis, and effacement of podocyte foot processes that has_material_basis_in homozygous or compound heterozygous mutation in the KIRREL1 gene on chromosome 1q23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31472902/ "DO"] synonym: "KIRREL1-RELATED CONDITION" EXACT [] synonym: "NPHS23" EXACT [] xref: MIM:619201 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2021-03-29T23:56:11Z [Term] id: DOID:0112267 name: nephrotic syndrome type 21 alt_id: DOID:9001780 def: "A familial nephrotic syndrome characterized by onset of rapidly, progressive kidney dysfunction in the first year of life, proteinuria, and diffuse mesangial sclerosis that has_material_basis_in homozygous or compound heterozygous mutation in the AVIL gene on chromosome 12q14.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29058690/ "DO"] synonym: "NPHS21" EXACT [] xref: MIM:618594 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2021-03-29T23:59:11Z [Term] id: DOID:0112268 name: nephrotic syndrome type 22 alt_id: DOID:9006110 def: "A familial nephrotic syndrome characterized by onset of progressive kidney dysfunction in infancy, edema, hypoproteinemia, proteinuria, microscopic hematuria, effacement of the podocyte foot processes, glomerulosclerosis, and thickening of the glomerular basement membrane that has_material_basis_in homozygous or compound heterozygous mutation in the NOS1AP gene on chromosome 1q23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33523862/ "DO"] synonym: "NPHS22" EXACT [] xref: MIM:619155 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2021-03-30T00:03:11Z [Term] id: DOID:0112269 name: primary ovarian insufficiency 18 alt_id: DOID:9002167 def: "A primary ovarian insufficiency characterized by irregular menstrual cycles and cessation of menstruation in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33508233/ "DO"] synonym: "POF18" EXACT [] synonym: "premature ovarian failure 18" EXACT [] xref: MIM:619203 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-03-30T07:58:11Z [Term] id: DOID:0112270 name: spermatogenic failure 52 alt_id: DOID:9008964 def: "A spermatogenic failure that is characterized by non-obstructive azoospermia resulting from meiotic arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in C14orf39 on chromosome 14q23.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33508233/ "DO"] synonym: "SPGF52" EXACT [] xref: MIM:619202 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2021-03-30T08:01:11Z [Term] id: DOID:0112271 name: spermatogenic failure 49 alt_id: DOID:9003200 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the sperm flagella resulting in markedly reduced or no progressive motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP58 gene on chromosome 10q25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32791035/ "DO"] synonym: "SPGF49" EXACT [] synonym: "SPGF98" EXACT [] xref: MIM:619144 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-03-30T08:06:11Z [Term] id: DOID:0112272 name: spermatogenic failure 50 alt_id: DOID:9006198 def: "A spermatogenic failure that is characterized by azoospermia resulting from meiotic arrest at prophase I that has_material_basis_in homozygous or compound heterozygous mutation in the XRCC2 gene on chromosome 7q36.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30042186/ "DO"] synonym: "SPGF50" EXACT [] xref: MIM:619145 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2021-03-30T08:09:11Z [Term] id: DOID:0112273 name: spermatogenic failure 51 alt_id: DOID:9008842 def: "A spermatogenic failure characterized by severe asthenoteratozoospermia with multiple morphologic abnormalities of the flagella resulting in reduced to absent motility that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP91 gene on chromosome 3q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32161152/ "DO"] synonym: "SPGF51" EXACT [] xref: MIM:619177 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-03-30T08:12:11Z [Term] id: DOID:0112274 name: X-linked spermatogenic failure 3 alt_id: DOID:9007466 def: "A spermatogenic failure characterized by asthenoteratozoospermia with multiple morphologic abnormalities of the flagella that has_material_basis_in hemizygous mutation in the CFAP47 gene on chromosome Xp21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33472045/ "DO"] synonym: "SPGFX3" EXACT [] xref: MIM:301059 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:0112275 name: developmental and epileptic encephalopathy 93 alt_id: DOID:9008555 def: "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29668857/ "DO"] synonym: "DEE93" EXACT [] synonym: "IECEE3" EXACT [] synonym: "infantile or early childhood epileptic encephalopathy 3" EXACT [] xref: MIM:618012 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2021-04-29T22:14:36Z [Term] id: DOID:0112276 name: neurodevelopmental disorder with involuntary movements alt_id: DOID:9001978 def: "A movement disease characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis that has_material_basis_in heterozygous mutation of the GNAO1 gene on chromosome 16q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27068059/ "DO", https://pubmed.ncbi.nlm.nih.gov/28357411/ "DO"] synonym: "GNAO1-RELATED CONDITION" BROAD [] synonym: "NEDIM" EXACT [] xref: MIM:617493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:480 ! movement disease is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2021-04-29T22:16:35Z [Term] id: DOID:0112277 name: immunodeficiency 79 def: "A T cell deficiency characterized by childhood onset of recurrent and recalcitrant skin warts due to uncontrolled viral infection with human papillomavirus and absence of the CD4 antigen on T cells, monocytes, and dendritic cells that has_material_basis_in homozygous or compound heterozygous mutation in CD4 on chromosome 12p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31781092/ "DO", https://pubmed.ncbi.nlm.nih.gov/33471124/ "DO"] synonym: "IMD79" EXACT [] xref: MIM:619238 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency created_by: mtutaj creation_date: 2021-04-29T22:19:01Z [Term] id: DOID:0112278 name: primary ovarian insufficiency 19 alt_id: DOID:9000665 def: "A primary ovarian insufficiency characterized by irregular menses that cease in the third decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the HSF2BP gene on chromosome 21q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32845237/ "DO"] synonym: "POF19" EXACT [] synonym: "POI19" EXACT [] synonym: "premature ovarian failure 19" EXACT [] xref: MIM:619245 xref: MONDO:0030985 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2021-04-29T22:22:42Z [Term] id: DOID:0112279 name: spermatogenic failure 53 alt_id: DOID:9008411 def: "A spermatogenic failure characterized by infertility resulting from absence of oocyte activation and ultrastructural abnormalities of the sperm head that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL9 gene on chromosome 19p13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33626338/ "DO"] synonym: "SPGF53" EXACT [] xref: MIM:619258 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-04-29T22:25:15Z [Term] id: DOID:0112280 name: spondyloepiphyseal dysplasia def: "An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs. (DO)" [https://emedicine.medscape.com/article/1260836-overview "DO", https://pubmed.ncbi.nlm.nih.gov/16080123/ "DO"] synonym: "SED" EXACT [] xref: GARD:7687 xref: MONDO:0016761 xref: ORDO:253 is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2021-04-29T17:38:06Z [Term] id: DOID:0112281 name: spondyloepiphyseal dysplasia Stanescu type alt_id: DOID:9004463 def: "A spondyloepiphyseal dysplasia characterized by accumulation of glycoprotein in chondrocytes, progressive joint contracture with premature degenerative joint disease, generalized platyspondyly, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands that has_material_basis_in heterozygous mutation in COL2A1 on chromosome 12q13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26183434/ "DO", https://pubmed.ncbi.nlm.nih.gov/6430256/ "DO", https://pubmed.ncbi.nlm.nih.gov/9592900/ "DO"] synonym: "SED, STANESCU TYPE" EXACT [] synonym: "SEDSTN" EXACT [] synonym: "Stanescu type of spondyloepiphyseal dysplasia" EXACT [] xref: MIM:616583 xref: ORDO:459051 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:28:17Z [Term] id: DOID:0112282 name: spondyloepiphyseal dysplasia Kimberley type alt_id: DOID:9002341 alt_id: MIM:608361 def: "A spondyloepiphyseal dysplasia that has_material_basis_in heterozygous mutation in the ACAN gene on chromosome 15q26.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16080123/ "DO", https://pubmed.ncbi.nlm.nih.gov/1978986/ "DO"] synonym: "SEDK" EXACT [] xref: MESH:C564252 xref: ORDO:93283 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:30:13Z [Term] id: DOID:0112283 name: spondyloepiphyseal dysplasia Kondo-Fu type alt_id: DOID:9003246 def: "A spondyloepiphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the MBTPS1 gene on chromosome 16q23.3-q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30046013/ "DO"] synonym: "SEDKF" EXACT [] synonym: "SED with elevated blood lysosomal enzymes" EXACT [] xref: EFO:0010168 xref: MIM:618392 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:32:04Z [Term] id: DOID:0112284 name: spondyloepiphyseal dysplasia tarda def: "A spondyloepiphyseal dysplasia characterized by impaired growth of the bones of the spine and the ends of the long bones that becomes apparent in after birth. (DO)" [https://medlineplus.gov/genetics/condition/x-linked-spondyloepiphyseal-dysplasia-tarda/ "DO", https://pubmed.ncbi.nlm.nih.gov/3213464/ "DO"] xref: ORDO:93284 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T19:04:40Z [Term] id: DOID:0112285 name: autosomal dominant spondyloepiphyseal dysplasia tarda alt_id: DOID:9007036 alt_id: MIM:184100 def: "A spondyloepiphyseal dysplasia tarda that has_material_basis_in heterozygous mutation in a region of chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1353665/ "DO", https://pubmed.ncbi.nlm.nih.gov/3213464/ "DO"] xref: GARD:10624 xref: MESH:C566658 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda created_by: mtutaj creation_date: 2021-04-29T22:34:15Z [Term] id: DOID:0112286 name: spondyloepiphyseal dysplasia with punctate corneal dystrophy alt_id: DOID:9000649 alt_id: MIM:183850 def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia and punctate dystrophy of the full depth of the corneal stroma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/414988/ "DO"] xref: MESH:C566660 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia is_a: DOID:2566 ! corneal dystrophy created_by: mtutaj creation_date: 2021-04-29T22:36:28Z [Term] id: DOID:0112287 name: spondyloepiphyseal dysplasia-brachydactyly and distinctive speech alt_id: DOID:9005310 def: "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, brachydactyly, and distinctive speech. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17515304/ "DO"] synonym: "Fantasy Island Syndrome" EXACT [] synonym: "SED-BDS" EXACT [] synonym: "SED-brachydactyly and distinctive speech" EXACT [] synonym: "spondyloepiphyseal dysplasia, Cantu type" EXACT [] synonym: "Tattoo Dysplasia" EXACT [] xref: GARD:10629 xref: MESH:C567128 xref: MIM:611717 xref: MONDO:0012716 xref: ORDO:163654 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:38:37Z [Term] id: DOID:0112288 name: spondyloepiphyseal dysplasia Nishimura type alt_id: DOID:9007564 def: "A spondyloepiphyseal dysplasia characterized by disproportionate short stature with short limbs, small hands and feet, midface hypoplasia with a small nose, mild spondylar dysplasia, delayed epiphyseal ossification of the hip and knee, and severe brachydactyly with cone-shaped phalangeal epiphyses that has_material_basis_in heterozygous gain-of-function mutation in the MIR140 gene on chromosome 16q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30804514/ "DO"] synonym: "SEDN" EXACT [] synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA MIR140 TYPE NISHIMURA" EXACT [] xref: MIM:618618 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T22:41:05Z [Term] id: DOID:0112289 name: spondyloepiphyseal dysplasia tarda with characteristic facies alt_id: DOID:9008185 alt_id: MIM:600093 def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of skeletal dysplasia, microcephaly, unusual facies, and moderate developmental delay. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8298734/ "DO"] xref: MESH:C564003 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2021-04-29T22:42:51Z [Term] id: DOID:0112290 name: spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis alt_id: DOID:9001252 def: "A syndrome characterized by early-onset retinal degeneration, sensorineural hearing loss, short stature, vertebral anomalies, epiphyseal dysplasia, and motor and intellectual delay that has_material_basis_in homozygous or compound heterozygous mutation in NMNAT1 on chromosome 1p36.22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32533184/ "DO", https://pubmed.ncbi.nlm.nih.gov/33668384/ "DO"] synonym: "SHILCA" EXACT [] synonym: "SHILCA Syndrome" EXACT [] xref: MIM:619260 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:14791 ! Leber congenital amaurosis is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2021-04-29T22:44:47Z [Term] id: DOID:0112291 name: autosomal recessive spondyloepiphyseal dysplasia tarda Leroy-Spranger type alt_id: DOID:9000095 alt_id: MIM:609223 def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance with late-onset of short-trunk type of short stature, abnormal spinal curvature, and minor leg deformities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14755466/ "DO"] xref: MESH:C563772 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda created_by: mtutaj creation_date: 2021-04-29T22:48:28Z [Term] id: DOID:0112292 name: spondyloepiphyseal dysplasia tarda with intellectual disability alt_id: DOID:9005685 alt_id: MIM:271620 def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of spondyloepiphyseal dysplasia associated with mild to moderate intellectual disability. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3612708/ "DO"] synonym: "spondyloepiphyseal dysplasia tarda with mental retardation" EXACT [] xref: MESH:C564796 xref: ORDO:163665 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2021-04-29T22:50:42Z [Term] id: DOID:0112293 name: autosomal recessive spondyloepiphyseal dysplasia tarda alt_id: DOID:9008360 alt_id: MIM:271600 def: "A spondyloepiphyseal dysplasia tarda characterized by autosomal recessive inheritance of short stature, flat vertebrae, and severe hip disease. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19994087/ "DO"] xref: MESH:C564797 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda created_by: mtutaj creation_date: 2021-04-29T22:53:26Z [Term] id: DOID:0112294 name: spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability alt_id: DOID:9002773 alt_id: MIM:602611 def: "A syndrome characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate, and intellectual disability. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9557884/ "DO"] synonym: "Spondyloepiphyseal Dysplasia with Coronal Craniosynostosis, Cataracts, Cleft Palate, and Mental Retardation" EXACT [] xref: MESH:C566515 xref: ORDO:163649 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia is_a: DOID:1059 ! intellectual disability is_a: DOID:2340 ! craniosynostosis is_a: DOID:674 ! cleft palate is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2021-04-29T22:56:04Z [Term] id: DOID:0112295 name: spondylometaphyseal dysplasia alt_id: DOID:9007642 def: "An osteochondrodysplasia characterized by platyspondyly (flattened vertebrae) and marked hip and knee metaphyseal lesions. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16752352/ "DO"] synonym: "spondylometaphyseal dysplasias" EXACT [] xref: MIM:PS184255 xref: ORDO:254 is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2021-04-29T22:09:44Z [Term] id: DOID:0112296 name: spondylometaphyseal dysplasia Algerian type alt_id: DOID:9000592 alt_id: MIM:184253 def: "A spondylometaphyseal dysplasia characterized by dwarfism, genu valgum deformity, progressive kypho-scoliosis, wrist deformity, myopia and severe metaphyseal dysplasia, with moderate spinal changes and minimal changes in the hands and feet. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3368247/ "DO"] synonym: "spondylometaphyseal dysplasia, Schmidt type" EXACT [] synonym: "spondylometaphyseal dysplasia with severe genu valgum" EXACT [] xref: GARD:504 xref: MESH:C535794 xref: ORDO:93316 is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:00:08Z [Term] id: DOID:0112297 name: spondylometaphyseal dysplasia corner fracture type alt_id: DOID:9000546 alt_id: MIM:184255 def: "A spondylometaphyseal dysplasia characterized by flake-like, triangular, or curvilinear ossification centers at the edges of irregular metaphyses that simulate fractures that has_material_basis_in heterozygous mutation in FN1 on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2343127/ "DO", https://pubmed.ncbi.nlm.nih.gov/29100092/ "DO"] synonym: "FN1-RELATED CONDITION" BROAD [] synonym: "SMDCF" EXACT [] synonym: "spondylometaphyseal dysplasia, Sutcliffe type" EXACT [] xref: GARD:4991 xref: MESH:C535793 xref: ORDO:93315 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:9001547 ! Tibial Fractures is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2021-04-29T23:01:47Z [Term] id: DOID:0112298 name: spondylometaphyseal dysplasia Sedaghatian type alt_id: DOID:9003961 alt_id: MIM:250220 def: "A spondylometaphyseal dysplasia characterized by neonatal lethality, severe metaphyseal chondrodysplasia with mild limb shortening, platyspondyly, delayed epiphyseal ossification, irregular iliac crests, pulmonary hemorrhage, severe hypotonia and cardiorespiratory problems that has_material_basis_in homozygous or compound heterozygous mutation in the GPX4 gene on chromosome 19p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24706940/ "DO"] synonym: "GPX4-RELATED CONDITION" EXACT [] synonym: "Lethal Metaphyseal Dysplasia" EXACT [] synonym: "Metaphyseal Chondrodysplasia, Congenital Lethal" EXACT [] synonym: "Sedaghatian Chondrodysplasia" EXACT [] synonym: "SMDS" EXACT [] xref: GARD:4993 xref: MESH:C535798 xref: ORDO:93317 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:03:20Z [Term] id: DOID:0112299 name: axial spondylometaphyseal dysplasia alt_id: DOID:9006983 alt_id: MIM:602271 def: "A spondylometaphyseal dysplasia characterized by postnatal growth failure, metaphyseal changes of truncal-juxtatruncal bones, and retinal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the CFAP410 gene on chromosome 21q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21910225/ "DO", https://pubmed.ncbi.nlm.nih.gov/26167768/ "DO"] synonym: "CFAP410-RELATED CONDITION" BROAD [] synonym: "SMDAX" EXACT [] synonym: "SMD, axial" EXACT [] synonym: "SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL" EXACT [] xref: GARD:8720 xref: MESH:C535795 xref: ORDO:168549 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:05:06Z [Term] id: DOID:0112300 name: spondylometaphyseal dysplasia with cone-rod dystrophy alt_id: DOID:9005400 def: "A spondylometaphyseal dysplasia characterized by postnatal growth deficiency, profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT1A gene on chromosome 3q29. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15326626/ "DO", https://pubmed.ncbi.nlm.nih.gov/24387990/ "DO"] synonym: "SMD-CRD" EXACT [] synonym: "SMDCRD" EXACT [] synonym: "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome" EXACT [] xref: GARD:10647 xref: MESH:C563825 xref: MIM:608940 xref: MONDO:0012160 xref: ORDO:85167 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2021-04-29T23:06:40Z [Term] id: DOID:0112301 name: spondylometaphyseal dysplasia type A4 alt_id: DOID:9005008 alt_id: MIM:609052 def: "A spondylometaphyseal dysplasia characterized by severe metaphyseal changes of the femoral neck and ovoid, flattened vertebral bodies with anterior tongue-like deformities. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1870931/ "DO", https://pubmed.ncbi.nlm.nih.gov/9637426/ "DO"] synonym: "SMDA4" EXACT [] xref: GARD:458 xref: MESH:C563803 xref: ORDO:168555 is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:08:21Z [Term] id: DOID:0112302 name: spondylometaphyseal dysplasia East African type alt_id: DOID:9006984 alt_id: MIM:611702 def: "A spondylometaphyseal dysplasia characterized by oval vertebral bodies with wide, bracket-shaped metaphyses and small, round epiphyses without anterior tonguing of the vertebral bodies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12457408/ "DO"] xref: GARD:4992 xref: MESH:C535796 is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:09:43Z [Term] id: DOID:0112303 name: spondylometaphyseal dysplasia with corneal dystrophy alt_id: DOID:9006773 def: "A spondylometaphyseal dysplasia characterized by spondylometaphyseal dysplasia and corneal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the PLCB3 gene on chromosome 11q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29122926/ "DO"] synonym: "SMDCD" EXACT [] xref: MIM:618961 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:2566 ! corneal dystrophy created_by: mtutaj creation_date: 2021-04-29T23:11:21Z [Term] id: DOID:0112304 name: spondylometaphyseal dysplasia Megarbane-Dagher-Melike type alt_id: DOID:9005899 alt_id: MIM:613320 def: "A spondylometaphyseal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the PAM16 gene on chromosome 16p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24786642/ "DO"] synonym: "Chondrodysplasia, Megarbane-Dagher-Melki Type" EXACT [] synonym: "Megarbane-Dagher-Melike type chondrodysplasia" EXACT [] synonym: "Megarbane-Dagher-Melki type of spondylometaphyseal dysplasia" EXACT [] synonym: "SMDMDM" EXACT [] synonym: "spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type" EXACT [] xref: MESH:C567644 xref: ORDO:401979 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2021-04-29T23:12:45Z [Term] id: DOID:0112305 name: spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism alt_id: DOID:9006430 alt_id: MIM:607543 def: "A spondylometaphyseal dysplasia characterized by short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of spondylometaphyseal dysplasia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12503112/ "DO"] synonym: "SMD With Bowed Forearms And Facial Dysmorphism" EXACT [] synonym: "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome" EXACT [] xref: GARD:8719 xref: MESH:C535791 xref: ORDO:168552 is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-04-29T23:15:01Z [Term] id: DOID:0112306 name: Mahvash disease def: "An endocrine pancreas disease characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and increased serum glucagon levels that has_material_basis_in homozygous or compound heterozygous inactivating mutation of the GCGR gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29702528/ "DO"] synonym: "alpha-cell hyperplasia with glucagonemia" EXACT [] synonym: "GCGR-related hyperglucagonemia" EXACT [] synonym: "MVAH" EXACT [] synonym: "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" EXACT [] xref: GARD:10460 xref: MIM:619290 xref: ORDO:438274 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1428 ! endocrine pancreas disease created_by: mtutaj creation_date: 2021-04-29T23:16:55Z [Term] id: DOID:0112307 name: sarcosinemia alt_id: DOID:9005413 def: "An amino acid metabolic disorder characterized by increased concentrations of sarcosine in plasma and urine that has_material_basis_in homozygous or compound heterozygous mutation in the SARDH gene on chromosome 9q34.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22825317/ "DO", https://pubmed.ncbi.nlm.nih.gov/5936868/ "DO"] synonym: "deficiency of sarcosin dehydrogenase complex" EXACT [] synonym: "deficiency of sarcosine dehydrogenase complex" EXACT [] synonym: "demethylation defect of N-methylglycine" EXACT [] synonym: "hypersarcosinemia" EXACT [] synonym: "SARCOS" EXACT [] synonym: "SARCOSINE DEHYDROGENASE COMPLEX DEFICIENCY" EXACT [] synonym: "SARD deficiency" EXACT [] synonym: "SARDHD" EXACT [] synonym: "SARDH deficiency" EXACT [] xref: GARD:158 xref: MESH:C537236 xref: MIM:268900 xref: MONDO:0010008 xref: ORDO:3129 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2021-04-29T23:18:44Z [Term] id: DOID:0112308 name: central precocious puberty def: "An endocrine system disease characterized by early activation of the hypothalamic-pituitary-gonadal axis resulting in development of secondary sexual characteristics before the age of 8 years in girls and 9 years in boys. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23738509/ "DO", https://pubmed.ncbi.nlm.nih.gov/30086862/ "DO"] synonym: "gonadotropin-dependant precocious puberty" EXACT [] xref: EFO:0009029 xref: ICD10CM:E22.8 xref: NCI:C113217 xref: ORDO:759 is_a: DOID:9007284 ! Precocious Puberty created_by: mtutaj creation_date: 2021-06-03T21:57:17Z [Term] id: DOID:0112309 name: central precocious puberty 2 alt_id: DOID:9005385 def: "A central precocious puberty that has_material_basis_in heterozygous mutation on the paternal allele of the MKRN3 gene on chromosome 15q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23738509/ "DO"] synonym: "CPPB2" EXACT [] synonym: "MKRN3-RELATED CONDITION" EXACT [] xref: MIM:615346 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112308 ! central precocious puberty created_by: mtutaj creation_date: 2021-06-03T22:01:09Z [Term] id: DOID:0112310 name: central precocious puberty 1 alt_id: DOID:9006905 alt_id: MIM:176400 def: "A central precocious puberty that has_material_basis_in heterozygous mutation in the KISS1R gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18272894/ "DO"] synonym: "CPPB1" EXACT [] xref: MESH:C562787 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112308 ! central precocious puberty created_by: mtutaj creation_date: 2021-06-03T22:04:10Z [Term] id: DOID:0112311 name: male infertility due to acephalic spermatozoa def: "A spermatogenic failure characterized by male infertility caused by a majority of spermatozoa lacking heads. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27640305/ "DO"] synonym: "acephalic spermatozoa syndrome" EXACT [] xref: MONDO:0035153 xref: ORDO:529970 is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-10-12T14:17:38Z [Term] id: DOID:0112312 name: male infertility due to globozoospermia alt_id: DOID:9000296 alt_id: DOID:9001850 def: "A spermatogenic failure characterized by male infertility caused by the majority of spermatozoa having round heads and acrosome defects. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3338587/ "DO"] synonym: "globozoospermia" EXACT [] synonym: "globozoospermias" EXACT [] synonym: "globozoospermia syndrome" EXACT [] synonym: "male infertility due to round-headed spermatozoa" EXACT [] xref: GARD:12502 xref: NCI:C158500 xref: ORDO:171709 is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:9002321 ! Teratozoospermia created_by: mtutaj creation_date: 2021-10-12T16:22:12Z [Term] id: DOID:0112313 name: brain small vessel disease alt_id: DOID:9007269 def: "A brain disease characterized by abnormalities in the small blood vessels in the brain. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16598045/ "DO"] synonym: "brain small vessel diseases" EXACT [] synonym: "BSVD" EXACT [] synonym: "cerebral microangiopathies" EXACT [] synonym: "cerebral microangiopathy" EXACT [] synonym: "cerebral small vessel disease" EXACT [] synonym: "cerebral small vessel diseases" EXACT [] synonym: "COL4-RELATED CEREBRAL SMALL VESSEL DISEASE" NARROW [] xref: EFO:0008493 xref: MESH:D059345 xref: MIM:PS175780 is_a: DOID:6713 ! cerebrovascular disease created_by: mtutaj creation_date: 2021-10-12T16:24:37Z [Term] id: DOID:0112314 name: brain small vessel disease 2 alt_id: DOID:9007357 def: "A brain small vessel disease characterized by disturbed vascular supply to the brain leading to cerebral degeneration, porencephaly, and hemiplegia, seizures, and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in COL4A2 on chromosome 13q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22209246/ "DO"] synonym: "ACQUIRED PORENCEPHALY" RELATED [] synonym: "BSVD2" EXACT [] synonym: "COL4A2-RELATED CONDITION" BROAD [] synonym: "COL4A2-RELATED DISORDER" BROAD [] synonym: "Gould syndrome 2" EXACT [] synonym: "POREN2" EXACT [] synonym: "porencephaly 2" EXACT [] xref: MIM:614483 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060263 ! porencephaly is_a: DOID:0112313 ! brain small vessel disease created_by: mtutaj creation_date: 2021-10-12T16:47:59Z [Term] id: DOID:0112315 name: brain small vessel disease 3 alt_id: DOID:9007013 def: "A brain small vessel disease characterized by impaired basement membrane morphology resulting in increased fragility of cerebral blood vessels and an increased risk of intracranial bleeds of variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the COLGALT1 gene on chromosome 19p13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30412317/ "DO"] synonym: "BSVD3" EXACT [] xref: MIM:618360 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112313 ! brain small vessel disease created_by: mtutaj creation_date: 2021-10-12T16:50:25Z [Term] id: DOID:0112316 name: methemoglobinemia and ambiguous genitalia alt_id: DOID:9005696 alt_id: MIM:250790 def: "A disorder of sexual development characterized by severely reduced 17,20-lyase activity of CYP17A1, sex steroid deficiency with no deficiency in glucocorticoid and mineralocorticoid reserves, absent or disturbed pubertal development, and mild to severe methemoglobinemia that has_material_basis_in homozygous or compound heterozygous mutation in the CYB5A gene on chromosome 18q22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20080843/ "DO", https://pubmed.ncbi.nlm.nih.gov/22170710/ "DO"] synonym: "METAG" EXACT [] synonym: "methemoglobinemia due to deficiency of cytochrome B5" EXACT [] synonym: "methemoglobinemia type IV" EXACT [] synonym: "pure isolated 17,20-lyase deficiency" EXACT [] xref: MESH:C567102 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10783 ! methemoglobinemia is_a: DOID:1923 ! disorder of sexual development created_by: mtutaj creation_date: 2021-10-12T16:52:59Z [Term] id: DOID:0112317 name: Schindler disease def: "A lysosomal storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3149698/ "DO"] synonym: "Alpha-N-Acetylgalactosaminidase Deficiency" EXACT [] synonym: "Alpha-Naga Deficiency" EXACT [] synonym: "Naga Deficiency" EXACT [] xref: ORDO:3137 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3211 ! lysosomal storage disease created_by: mtutaj creation_date: 2021-10-12T16:57:08Z [Term] id: DOID:0112318 name: Schindler disease type 1 alt_id: DOID:9008896 alt_id: MIM:609241 def: "A Schindler disease characterized by infantile onset of neuroaxonal dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2889023/ "DO"] synonym: "Alpha-Galactosidase B Deficiency" EXACT [] synonym: "Alpha-Galnac Deficiency, Schindler Type" EXACT [] synonym: "Alpha-N-acetylgalactosaminidase deficiency, type 1" EXACT [] synonym: "Alpha-N-Acetylgalactosaminidase Deficiency, Type I" EXACT [] synonym: "Angiokeratoma Corporis Diffusum-Glycopeptiduria" EXACT [] synonym: "Galb Deficiency" EXACT [] synonym: "Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum" EXACT [] synonym: "NAGA deficiency type 1" EXACT [] synonym: "Naga Deficiency, Type I" EXACT [] synonym: "Neuroaxonal dystrophy, Schindler type" EXACT [] synonym: "Neuronal Axonal Dystrophy, Schindler Type" EXACT [] synonym: "Schindler Disease, Type I" EXACT [] xref: GARD:116 xref: MESH:C536631 xref: ORDO:79279 is_a: DOID:0112317 ! Schindler disease is_a: DOID:2367 ! neuroaxonal dystrophy created_by: mtutaj creation_date: 2021-10-12T17:24:35Z [Term] id: DOID:0112319 name: Kanzaki disease def: "A Schindler disease characterized by adult-onset of angiokeratoma corporis diffusum and mild intellectual impairment that has_material_basis_in homozygous mutation in the gene encoding alpha-N-galactosaminidase (NAGA) on chromosome 22q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2564952/ "DO"] synonym: "Alpha-N-acetylgalactosaminidase deficiency adult onset" EXACT [] synonym: "Alpha-N-acetylgalactosaminidase deficiency type 2" EXACT [] synonym: "alpha-N-Acetylgalactosaminidase Deficiency, Type II" EXACT [] synonym: "NAGA deficiency type 2" EXACT [] synonym: "NAGA Deficiency, Type II" EXACT [] synonym: "Schindler disease, type 2" EXACT [] synonym: "Schindler Disease, Type II" EXACT [] xref: GARD:9161 xref: MIM:609242 xref: ORDO:79280 is_a: DOID:0112317 ! Schindler disease created_by: mtutaj creation_date: 2021-10-12T17:31:08Z [Term] id: DOID:0112320 name: Schindler disease type 3 def: "A Schindler disease characterized by mild to moderate neurologic manifestations with onset after infancy but earlier than in Schindler disease type 3 that has_material_basis_in homozygous or compound heterozygous mutation in the NAGA gene on chromosome 22q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8071745/ "DO"] synonym: "alpha-N-acetylgalactosaminidase deficiency type 3" EXACT [] synonym: "Alpha-N-Acetylgalactosaminidase Deficiency, Type III" EXACT [] synonym: "NAGA deficiency type 3" EXACT [] synonym: "NAGA DEFICIENCY, TYPE III" EXACT [] synonym: "SCHINDLER DISEASE, TYPE III" EXACT [] xref: GARD:3903 xref: ORDO:79281 is_a: DOID:0112317 ! Schindler disease created_by: mtutaj creation_date: 2021-10-12T17:35:58Z [Term] id: DOID:0112321 name: alacrima, achalasia, and impaired intellectual development syndrome alt_id: DOID:9004427 def: "A congenital disorder of glycosylation characterized by onset in infancy of alacrima, achalasia, and impaired intellectual development without adrenal insufficiency that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPA gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24035193/ "DO"] synonym: "AAMR" EXACT [] synonym: "alacrima, achalasia, and mental retardation syndrome" EXACT [] xref: MIM:615510 xref: NCI:C202544 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:5212 ! congenital disorder of glycosylation is_a: DOID:9004034 ! Alacrima is_a: DOID:9005110 ! Familial Esophageal Achalasia is_a: DOID:9006811 ! Congenital Alacrima created_by: mtutaj creation_date: 2021-10-12T17:41:08Z [Term] id: DOID:0112322 name: pontocerebellar hypoplasia type 1 alt_id: DOID:9009228 def: "A pontocerebellar hypoplasia characterized by spinal cord anterior horn cell degeneration combined with pontocerebellar hypoplasia. (DO)" [https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/ "DO", https://pubmed.ncbi.nlm.nih.gov/21749694/ "DO", https://pubmed.ncbi.nlm.nih.gov/29656927/ "DO"] synonym: "Norman disease" EXACT [] synonym: "PCH1" EXACT [] xref: GARD:10704 xref: MESH:C548069 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T14:30:30Z [Term] id: DOID:0112323 name: pontocerebellar hypoplasia type 1D alt_id: DOID:9009227 def: "A pontocerebellar hypoplasia type 1 characterized by severe hypotonia and motor neuronopathy detectable at birth or in infancy that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC9 gene on chromosome 4q27. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29727687/ "DO", https://pubmed.ncbi.nlm.nih.gov/30690203/ "DO"] synonym: "PCH1D" EXACT [] xref: MIM:618065 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: mtutaj creation_date: 2021-11-16T14:59:03Z [Term] id: DOID:0112324 name: pontocerebellar hypoplasia type 11 alt_id: DOID:9003995 def: "A pontocerebellar hypoplasia characterized by severely delayed psychomotor development with intellectual disability and poor speech, microcephaly, dysmorphic features, and pontocerebellar hypoplasia on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D23 gene on chromosome 3q12.1-q12.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28823706/ "DO"] synonym: "PCH11" EXACT [] xref: MIM:617695 xref: MONDO:0054669 xref: ORDO:611247 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:01:03Z [Term] id: DOID:0112325 name: pontocerebellar hypoplasia type 14 alt_id: DOID:9001507 def: "A pontocerebellar hypoplasia characterized by congenital onset of progressive microcephaly, poor or absent psychomotor development, and severely impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PPIL1 gene on chromosome 6p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33220177/ "DO"] synonym: "PCH14" EXACT [] xref: MIM:619301 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:03:29Z [Term] id: DOID:0112326 name: pontocerebellar hypoplasia type 15 alt_id: DOID:9005060 def: "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the CDC40 gene on chromosome 6q21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33220177/ "DO"] synonym: "PCH15" EXACT [] xref: MIM:619302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:05:01Z [Term] id: DOID:0112327 name: pontocerebellar hypoplasia type 12 alt_id: DOID:9004840 def: "A pontocerebellar hypoplasia that has_material_basis_in homozygous or compound heterozygous mutation in the COASY gene on chromosome 17q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30089828/ "DO"] synonym: "COASY-RELATED CONDITION" BROAD [] synonym: "COASY-related pontocerebellar hypoplasia" EXACT [] synonym: "PCH12" EXACT [] xref: MIM:618266 xref: ORDO:611256 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:07:18Z [Term] id: DOID:0112328 name: pontocerebellar hypoplasia type 2 alt_id: DOID:9003707 def: "A pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy. (DO)" [https://medlineplus.gov/genetics/condition/pontocerebellar-hypoplasia/ "DO"] synonym: "PCH2" EXACT [] xref: GARD:10705 xref: MESH:C548070 xref: MONDO:0016759 xref: ORDO:2524 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T14:33:36Z [Term] id: DOID:0112329 name: pontocerebellar hypoplasia type 2F alt_id: DOID:9004573 def: "A pontocerebellar hypoplasia type 2 characterized by progressive microcephaly and variable neurologic signs and symptoms that has_material_basis_in homozygous or compound heterozygous mutation in the TSEN15 gene on chromosome 1q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27392077/ "DO"] synonym: "PCH2F" EXACT [] xref: MIM:617026 xref: MONDO:0014874 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112328 ! pontocerebellar hypoplasia type 2 created_by: mtutaj creation_date: 2021-11-16T15:10:14Z [Term] id: DOID:0112330 name: pontocerebellar hypoplasia type 1E alt_id: DOID:9005567 def: "A pontocerebellar hypoplasia type 1 characterized by onset shortly after birth of severe hypotonia and respiratory insufficiency with most patients dying within weeks of birth that has_material_basis_in homozygous or compound heterozygous mutation in the SLC25A46 gene on chromosome 5q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26168012/ "DO", https://pubmed.ncbi.nlm.nih.gov/28653766/ "DO"] synonym: "PCH1E" EXACT [] xref: MIM:619303 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: mtutaj creation_date: 2021-11-16T15:12:14Z [Term] id: DOID:0112331 name: pontocerebellar hypoplasia type 1F alt_id: DOID:9004539 def: "A pontocerebellar hypoplasia type 1 characterized by hypotonia, global developmental delay, poor overall growth, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC1 gene on chromosome 10q24.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33463720/ "DO"] synonym: "PCH1F" EXACT [] xref: MIM:619304 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: mtutaj creation_date: 2021-11-16T15:13:46Z [Term] id: DOID:0112332 name: pontocerebellar hypoplasia type 13 alt_id: DOID:9001590 def: "A pontocerebellar hypoplasia characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem that has_material_basis_in homozygous or compound heterozygous mutation in the VPS51 gene on chromosome 11q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31207318/ "DO"] synonym: "PCH13" EXACT [] xref: EFO:0010636 xref: MIM:618606 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:15:19Z [Term] id: DOID:0112333 name: pontocerebellar hypoplasia type 16 alt_id: DOID:9007990 def: "A pontocerebellar hypoplasia characterized by hypotonia and severe global developmental delay apparent from early infancy that has_material_basis_in homozygous or compound heterozygous mutation in the MINPP1 gene on chromosome 10q23.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33168985/ "DO", https://pubmed.ncbi.nlm.nih.gov/33257696/ "DO"] synonym: "PCH16" EXACT [] xref: MIM:619527 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2021-11-16T15:16:58Z [Term] id: DOID:0112334 name: pontocerebellar hypoplasia type 1C alt_id: DOID:9006688 def: "A pontocerebellar hypoplasia type 1 characterized by severe muscle weakness and failure to thrive apparent in the first months of life that has_material_basis_in homozygous or compound heterozygous mutation in the EXOSC8 gene on chromosome 13q13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24989451/ "DO"] synonym: "HYPOMYELINATION WITH SPINAL MUSCULAR ATROPHY AND CEREBELLAR HYPOPLASIA" EXACT [] synonym: "PCH1C" EXACT [] xref: MIM:616081 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112322 ! pontocerebellar hypoplasia type 1 created_by: mtutaj creation_date: 2021-11-16T15:18:17Z [Term] id: DOID:0112335 name: spermatogenic failure 54 alt_id: DOID:9001569 def: "A spermatogenic failure characterized by male infertility due to oligoteratoasthenozoospermia, with markedly reduced sperm counts and severely reduced or absent sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the CATIP gene on chromosome 2q35. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32503832/ "DO"] synonym: "SPGF54" EXACT [] xref: MIM:619379 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-11-16T15:19:56Z [Term] id: DOID:0112336 name: spermatogenic failure 56 alt_id: DOID:9003560 def: "A spermatogenic failure characterized by male infertility due to multiple morphologic abnormalities of the flagella with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the DNAH10 gene on chromosome 12q24.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34237282/ "DO"] synonym: "SPGF56" EXACT [] xref: MIM:619515 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-11-16T15:22:02Z [Term] id: DOID:0112337 name: spermatogenic failure 55 alt_id: DOID:9008489 def: "A spermatogenic failure characterized by male infertility due to asthenozoospermia, with severely reduced sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the SPAG17 gene on chromosome 1p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28548327/ "DO"] synonym: "SPGF55" EXACT [] xref: MIM:619380 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-11-16T15:23:19Z [Term] id: DOID:0112338 name: spermatogenic failure 57 alt_id: DOID:9007053 def: "A spermatogenic failure characterized by male infertility due to error-prone meiosis of germ cells and spermatogenic arrest at the late pachytene stage that has_material_basis_in homozygous or compound heterozygous mutation in the PNLDC1 gene on chromosome 6q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34347949/ "DO"] synonym: "MALE INFERTILITY WITH AZOOSPERMIA OR OLIGOZOOSPERMIA DUE TO SINGLE GENE MUTATION" BROAD [] synonym: "SPGF57" EXACT [] xref: MIM:619528 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2021-11-16T15:24:41Z [Term] id: DOID:0112339 name: Tatton-Brown-Rahman syndrome alt_id: DOID:9007831 def: "A syndromic intellectual disability characterized by tall stature, a distinctive facial appearance, and impaired intellectual development that has_material_basis_in heterozygous mutation in the DNMT3A gene on chromosome 2p23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24614070/ "DO", https://pubmed.ncbi.nlm.nih.gov/34315901/ "DO"] synonym: "DNMT3A overgrowth syndrome" EXACT [] synonym: "DOS" EXACT [] synonym: "Tatton-Brown-Rahman overgrowth syndrome" EXACT [] synonym: "TBRS" EXACT [] xref: MIM:615879 xref: ORDO:404443 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9006084 ! Gigantism is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2022-03-07T10:43:52Z [Term] id: DOID:0112340 name: craniotubular dysplasia Ikegawa type def: "A craniodiaphyseal dysplasia characterized by childhood-onset short stature in association with macrocephaly, dolichocephaly, or prominent forehead that has_material_basis_in homozygous or compound heterozygous mutation in the TMEM53 gene on chromosome 1p34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33824347/ "DO"] synonym: "CTDI" EXACT [] synonym: "TMEM53-RELATED CRANIOTUBULAR DYSPLASIA" EXACT [] xref: MIM:619727 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080032 ! craniodiaphyseal dysplasia created_by: mtutaj creation_date: 2022-03-07T10:49:09Z [Term] id: DOID:0112341 name: hereditary spastic paraplegia 80 alt_id: DOID:9000479 def: "A hereditary spastic paraplegia characterized by juvenile-onset of progressive spasticity and hyperreflexia affecting mainly the lower limbs that has_material_basis_in heterozygous mutation in the UBAP1 gene on chromosome 9p13.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30929741/ "DO"] synonym: "autosomal dominant spastic paraplegia 80" EXACT [] synonym: "SPG80" EXACT [] synonym: "UBAP1-RELATED CONDITION" EXACT [] xref: MIM:618418 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T10:51:25Z [Term] id: DOID:0112342 name: hereditary spastic paraplegia 86 alt_id: DOID:9000731 def: "A hereditary spastic paraplegia characterized by early childhood onset of global developmental delay and early-onset progressive spasticity mainly affecting the lower limbs but also affecting the upper lmbs that has_material_basis_in homozygous or compound heterozygous mutation in the ABHD16A gene on chromosome 6p21.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34489854/ "DO", https://pubmed.ncbi.nlm.nih.gov/34866177/ "DO"] synonym: "spastic paraplegia 86 autosomal recessive" EXACT [] synonym: "SPG86" EXACT [] xref: MIM:619735 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T10:54:24Z [Term] id: DOID:0112343 name: hereditary spastic paraplegia 82 alt_id: DOID:9003993 def: "A hereditary spastic paraplegia characterized by onset in infancy of global developmental delay, significant motor impairment, and progressive spasticity mainly affecting the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the PCYT2 gene on chromosome 17q25.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31637422/ "DO"] synonym: "spastic paraplegia 82 autosomal recessive" EXACT [] synonym: "SPG82" EXACT [] xref: MIM:618770 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T10:56:53Z [Term] id: DOID:0112344 name: hereditary spastic paraplegia 79B alt_id: DOID:9002985 def: "A hereditary spastic paraplegia characterized by onset of spastic paraplegia and optic atrophy in the first decade of life that has_material_basis_in homozygous or compound heterozygous mutation in the UCHL1 gene on chromosome 4p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28007905/ "DO"] synonym: "autosomal recessive spastic paraplegia 79" RELATED [] synonym: "autosomal recessive spastic paraplegia 79B" EXACT [] synonym: "early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome" EXACT [] synonym: "NDGOA" EXACT [] synonym: "neurodegeneration with optic atrophy, childhood-onset" EXACT [] synonym: "SPG79" RELATED [] synonym: "SPG79B" EXACT [] xref: MIM:615491 xref: ORDO:352654 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T10:58:55Z [Term] id: DOID:0112345 name: hereditary spastic paraplegia 85 alt_id: DOID:9002197 def: "A hereditary spastic paraplegia characterized by onset of motor symptoms (e.g. spasticity and hyperreflexia of the lower limbs) in the first few years of life that has_material_basis_in homozygous or compound heterozygous mutation in the RNF170 gene on chromosome 8p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31636353/ "DO"] synonym: "spastic paraplegia 85 autosomal recessive" EXACT [] synonym: "SPG85" EXACT [] xref: MIM:619686 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:00:45Z [Term] id: DOID:0112346 name: hereditary spastic paraplegia 83 alt_id: DOID:9006133 def: "A hereditary spastic paraplegia characterized by progressive lower limb spasticity resulting in gait instability that has_material_basis_in homozygous or compound heterozygous mutation in the HPDL gene on chromosome 1p34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32707086/ "DO"] synonym: "spastic paraplegia 83 autosomal recessive" EXACT [] synonym: "SPG83" EXACT [] xref: MIM:619027 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:02:39Z [Term] id: DOID:0112347 name: hereditary spastic paraplegia 84 alt_id: DOID:9000072 def: "A hereditary spastic paraplegia characterized by onset in the first 2 decades of life of slowly progressive walking difficulties due to lower limb weakness, stiffness, and spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the PI4KA gene on chromosome 22q11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34415322/ "DO"] synonym: "spastic paraplegia 84 autosomal recessive" EXACT [] synonym: "SPG84" EXACT [] xref: EFO:0020858 xref: MIM:619621 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:04:06Z [Term] id: DOID:0112348 name: hereditary spastic paraplegia 78 alt_id: DOID:9003368 def: "A hereditary spastic paraplegia characterized predominantly by spasticity and muscle weakness of the lower limbs that has_material_basis_in homozygous or compound heterozygous mutation in the ATP13A2 gene on chromosome 1p36.13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28137957/ "DO"] synonym: "ATP13A2-RELATED CONDITION" BROAD [] synonym: "AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78" EXACT [] synonym: "spastic paraplegia 78 autosomal recessive" EXACT [] synonym: "SPG78" EXACT [] xref: MIM:617225 xref: ORDO:513436 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:05:29Z [Term] id: DOID:0112349 name: hereditary spastic paraplegia 81 alt_id: DOID:9005550 def: "A hereditary spastic paraplegia characterized by onset in infancy, delayed motor development, progressive spasticity, and other neurologic impairments that has_material_basis_in homozygous or compound heterozygous mutation in the SELENOI gene on chromosome 2p23.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28052917/ "DO", https://pubmed.ncbi.nlm.nih.gov/29500230/ "DO"] synonym: "autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction" EXACT [] synonym: "autosomal recessive complex SPG due to Kennedy pathway dysfunction" EXACT [] synonym: "spastic paraplegia 81 autosomal recessive" EXACT [] synonym: "SPG81" EXACT [] xref: MIM:618768 xref: ORDO:506353 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: mtutaj creation_date: 2022-03-07T11:07:23Z [Term] id: DOID:0112350 name: spermatogenic failure 61 alt_id: DOID:9003991 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete meiotic arrest at the primary spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the STAG3 gene on chromosome 7q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31125047/ "DO", https://pubmed.ncbi.nlm.nih.gov/31682730/ "DO"] synonym: "SPGF61" EXACT [] xref: MIM:619672 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2022-03-07T11:08:57Z [Term] id: DOID:0112351 name: spermatogenic failure 62 alt_id: DOID:9000031 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia with complete metaphase arrest at the spermatocyte stage that has_material_basis_in homozygous or compound heterozygous mutation in the RNF212 gene on chromosome 4p16.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31125047/ "DO"] synonym: "SPGF62" EXACT [] xref: MIM:619673 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2022-03-07T11:12:31Z [Term] id: DOID:0112352 name: spermatogenic failure 58 alt_id: DOID:9005122 def: "A spermatogenic failure characterized by multiple morphologic abnormalities of the flagella and immotile or severely reduced progressive motility of sperm that has_material_basis_in homozygous or compound heterozygous mutation in the IFT74 gene on chromosome 9p21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33689014/ "DO"] synonym: "MMAF" EXACT [] synonym: "MULTIPLE MORPHOLOGICAL ANOMALIES OF SPERM FLAGELLA" EXACT [] synonym: "SPGF58" EXACT [] xref: MIM:619585 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2022-03-07T11:14:03Z [Term] id: DOID:0112353 name: spermatogenic failure 64 alt_id: DOID:9000302 def: "A spermatogenic failure characterized by male infertility due to oligoasthenoteratozoospermia or nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the FBXO43 gene on chromosome 8q22.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30878252/ "DO", https://pubmed.ncbi.nlm.nih.gov/34595750/ "DO"] synonym: "SPGF64" EXACT [] xref: MIM:619696 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2022-03-07T11:16:36Z [Term] id: DOID:0112354 name: spermatogenic failure 65 alt_id: DOID:9003804 def: "A spermatogenic failure characterized by male infertility due to asthenoteratozoospermia with severely reduced or absent progressive sperm motillity and multiple morphologic abnormalities of the flagella that has_material_basis_in homozygous or compound heterozygous mutation in the DHND1 gene on chromosome 11p15.4. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34932939/ "DO"] synonym: "DNHD1-RELATED CONDITION" EXACT [] synonym: "SPGF65" EXACT [] xref: MIM:619712 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2022-03-07T11:17:35Z [Term] id: DOID:0112355 name: spermatogenic failure 60 alt_id: DOID:9000091 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB1 gene on chromosome 16q22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32741963/ "DO"] synonym: "SPGF 60" EXACT [] synonym: "SPGF60" EXACT [] xref: MIM:619646 xref: MONDO:0030493 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2022-03-07T11:18:49Z [Term] id: DOID:0112356 name: spermatogenic failure 63 alt_id: DOID:9002940 def: "A spermatogenic failure characterized by male infertility due to severe oligozoospermia with markedly reduced progressive sperm motility that has_material_basis_in homozygous or compound heterozygous mutation in the RPL10L gene on chromosome 14q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32111475/ "DO"] synonym: "SPGF63" EXACT [] xref: MIM:619689 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure created_by: mtutaj creation_date: 2022-03-07T11:20:36Z [Term] id: DOID:0112357 name: spermatogenic failure 59 alt_id: DOID:9002386 def: "A spermatogenic failure that is characterized by male infertility due to nonobstructive azoospermia that has_material_basis_in homozygous or compound heterozygous mutation in the TERB2 gene on chromosome 15q21.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33211200/ "DO"] synonym: "SPGF59" EXACT [] xref: MIM:619645 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:14227 ! azoospermia created_by: mtutaj creation_date: 2022-03-07T11:22:02Z [Term] id: DOID:0112358 name: short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 alt_id: DOID:9005035 def: "A syndrome characterized by reduced growth, thin and short long bones, distinctive facial dysmorphism, dental and skeletal abnormalities, and absence of developmental delay or intellectual disability that has_material_basis_in homozygous or compound heterozygous mutation in the SCUBE3 gene on chromosome 6p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33308444/ "DO"] synonym: "SSFSC2" EXACT [] xref: MIM:619184 xref: MONDO:0030953 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004675 ! Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies created_by: mtutaj creation_date: 2022-04-28T16:56:25Z [Term] id: DOID:0112359 name: congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay alt_id: DOID:9006401 def: "A syndrome characterized by variable congenital anomalies of the kidney and urinary tract and variable presentation of ear abnormalities, hearing loss, and global developmental delay that has_material_basis_in heterozygous mutation in the PBX1 gene on chromosome 1q23.3 or deletion of a genomic region that includes the PBX1 gene. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28566479/ "DO", https://pubmed.ncbi.nlm.nih.gov/29036646/ "DO"] synonym: "CAKUTHED" EXACT [] synonym: "PBX1-RELATED CONDITION" EXACT [] synonym: "PBX1-RELATED INTELLECTUAL DISABILITY AND PLEIOTROPIC DEVELOPMENTAL DEFECTS" NARROW [] xref: MIM:617641 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:18 ! urinary system disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2022-04-28T17:06:04Z [Term] id: DOID:0112360 name: spondylocostal dysostosis 6 alt_id: DOID:9007515 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the RIPPLY2 gene on chromosome 6q14.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25343988/ "DO"] synonym: "SCDO6" EXACT [] synonym: "spondylocostal dysostosis 6, autosomal recessive" EXACT [] xref: MIM:616566 is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive created_by: mtutaj creation_date: 2022-04-28T18:47:47Z [Term] id: DOID:0112361 name: spondylocostal dysostosis 3 alt_id: DOID:9008439 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the LFNG gene on chromosome 7p22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16385447/ "DO"] synonym: "SCDO3" EXACT [] synonym: "spondylocostal dysostosis 3, autosomal recessive" EXACT [] xref: MIM:609813 is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive created_by: mtutaj creation_date: 2022-04-28T18:50:44Z [Term] id: DOID:0112362 name: spondylocostal dysostosis 2 alt_id: DOID:9001037 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the MESP2 gene on chromosome 15q26.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15122512/ "DO"] synonym: "SCDO2" EXACT [] synonym: "spondylocostal dysostosis 2, autosomal recessive" EXACT [] synonym: "spondylocostal dysostosis type 2" EXACT [] xref: MIM:608681 is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive created_by: mtutaj creation_date: 2022-04-28T18:52:45Z [Term] id: DOID:0112363 name: spondylocostal dysostosis 5 alt_id: DOID:9005408 def: "A spondylocostal dysostosis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in the TBX6 gene on chromosome 16p11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23335591/ "DO", https://pubmed.ncbi.nlm.nih.gov/25564734/ "DO"] synonym: "congenital scoliosis with or without rib anomalies" EXACT [] synonym: "SCDO5" EXACT [] synonym: "SPONDYLOCOSTAL DYSPLASIA" RELATED [] synonym: "spondylothoracic dysostosis" EXACT [] synonym: "TACS" EXACT [] synonym: "TBX6-associated congenital scoliosis" EXACT [] xref: MIM:122600 xref: MONDO:0007389 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:0050739 ! autosomal genetic disease created_by: mtutaj creation_date: 2022-04-28T18:55:10Z [Term] id: DOID:0112364 name: spondylocostal dysostosis 4 alt_id: DOID:9008362 def: "A spondylocostal dysostosis that has_material_basis_in heterozygous or compound homozygous mutation in the HES7 gene on chromosome 17p13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18775957/ "DO"] synonym: "SCDO4" EXACT [] synonym: "spondylocostal dysostosis 4, autosomal recessive" EXACT [] xref: MIM:613686 is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive created_by: mtutaj creation_date: 2022-04-28T18:57:17Z [Term] id: DOID:0112365 name: spondylocostal dysostosis 1 alt_id: DOID:9007004 alt_id: MIM:277300 def: "A spondylocostal dysostosis that has_material_basis_in homozygous or compound heterozygous mutation in the DLL3 gene on chromosome 19q13.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10742114/ "DO"] synonym: "autosomal recessive spondylocostal dysostosis 1" EXACT [] synonym: "costovertebral dysplasia" EXACT [] synonym: "DLL3-RELATED CONDITION" EXACT [] synonym: "DLL3-related disorder" EXACT [] synonym: "Jarcho-Levin syndrome" EXACT [] synonym: "SCDO1" EXACT [] synonym: "spondylocostal dysplasia, recessive form" EXACT [] synonym: "spondylothoracic dysostosis" EXACT [] xref: MESH:C537565 is_a: DOID:225 ! syndrome is_a: DOID:9006006 ! Spondylocostal Dysostosis, Autosomal Recessive is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9009073 ! Diaphragmatic Hernia created_by: mtutaj creation_date: 2022-04-28T18:59:07Z [Term] id: DOID:0112367 name: Coffin-Siris syndrome 8 alt_id: DOID:9002142 def: "A Coffin-Siris syndrome characterized by variable degrees of impaired intellectual development including speech impairment, hypotonia, feeding difficulties, and behavioral abnormalities and variable occurence of other dysmophic features that has_material_basis_in heterozygous mutation in the SMARCC2 gene on chromosome 12q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30580808/ "DO"] synonym: "CSS8" EXACT [] synonym: "SMARCC2-RELATED BAFOPATHY" EXACT [] synonym: "SMARCC2-RELATED CONDITION" EXACT [] xref: MIM:618362 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-02T23:15:08Z [Term] id: DOID:0112368 name: Coffin-Siris syndrome 5 alt_id: DOID:9009053 def: "A Coffin-Siris syndrome characterized by delayed psychomotor development, intellectual disability, coarse facial features, and hypoplasia of the distal phalanges, particularly the fifth digit that has_material_basis_in heterozygous mutation in the SMARCE1 gene on chromosome 17q21.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22426308/ "DO", https://pubmed.ncbi.nlm.nih.gov/23906836/ "DO"] synonym: "CSS5" EXACT [] xref: MIM:616938 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-02T23:17:26Z [Term] id: DOID:0112369 name: Coffin-Siris syndrome 7 alt_id: DOID:9009178 def: "A Coffin-Siris syndrome characterized by global developmental delay with mild to moderate intellectual disability, speech impairment, behavioral abnormalities, poor overall growth, coarse facial features, and hypoplastic fifth toenails that has_material_basis_in heterozygous mutation in the DPF2 gene on chromosome 11q13.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29429572/ "DO"] synonym: "CSS7" EXACT [] xref: MIM:618027 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-03T07:59:31Z [Term] id: DOID:0112370 name: Coffin-Siris syndrome 12 alt_id: DOID:9003485 def: "A Coffin-Siris syndrome characterized by global developmental delay with variably impaired intellectual development, speech and language delay, and behavioral abnormalities, such as autism or hyperactivity that has_material_basis_in heterozygous mutation in the BICRA gene on chromosome 19q13.33. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33232675/ "DO"] synonym: "BICRA-RELATED CONDITION" EXACT [] synonym: "CSS12" EXACT [] xref: MIM:619325 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-03T08:02:29Z [Term] id: DOID:0112371 name: Coffin-Siris syndrome 10 alt_id: DOID:9001894 def: "A Coffin-Siris syndrome characterized by mild to severe intellectual disability, global developmental delay, mild but distinct facial dysmorphism, fifth finger clinodactyly, and small stature that has_material_basis_in heterozygous mutation in the SOX4 gene on chromosome 6p22.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30661772/ "DO"] synonym: "CSS10" EXACT [] synonym: "IDDSDF" EXACT [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES" EXACT [] xref: MIM:618506 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-03T08:04:02Z [Term] id: DOID:0112372 name: Coffin-Siris syndrome 11 alt_id: DOID:9006260 def: "A Coffin-Siris syndrome characterized by global developmental delay and impaired intellectual development associated with hypotonia, feeding difficulties, and variable dysmorphic features that has_material_basis_in heterozygous mutation in the SMARCD1 gene on chromosome 12q13.12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30879640/ "DO"] synonym: "CSS11" EXACT [] xref: MIM:618779 xref: MONDO:0032912 is_a: DOID:1925 ! Coffin-Siris syndrome created_by: mtutaj creation_date: 2022-06-03T08:05:39Z [Term] id: DOID:0112373 name: autosomal dominant auditory neuropathy 3 alt_id: DOID:9002849 def: "An autosomal dominant nonsyndromic deafness characterized by progressive hearing loss with inability to discriminate speech but preserved sensitivity to sound, preservation of outer hair cell function and abnormal or absent auditory brainstem responses and that has_material_basis_in heterozygous mutation in the TMEM43 gene on chromosome 3p25.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34050020/ "DO"] synonym: "AUNA3" EXACT [] xref: MIM:619832 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:9001890 ! Auditory Neuropathy created_by: mtutaj creation_date: 2022-06-03T08:07:27Z [Term] id: DOID:0112374 name: muscular dystrophy-dystroglycanopathy def: "A congenital muscular dystrophy characterized by muscular dystrophy resulting from defective glycosylation of dystroglycan. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19299310/ "DO"] comment: On 2022-06-02, DOID:0050588 [muscular dystrophy-dystroglycanopathy] has been renamed to [muscular dystrophy-dystroglycanopathy type B1] -- thank you DO :-( synonym: "CMD due to dystroglycanopathy" EXACT [] synonym: "congenital muscular dystrophy due to dystroglycanopathy" EXACT [] synonym: "MDDG" EXACT [] xref: ORDO:370953 is_a: DOID:0050557 ! congenital muscular dystrophy created_by: mtutaj creation_date: 2022-06-02T19:28:16Z [Term] id: DOID:0112375 name: muscular dystrophy-dystroglycanopathy type B def: "A muscular dystrophy-dystroglycanopathy characterized by early onset of muscle weakness, intellectual disability in most cases, and variable presence of mild brain anomalies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15792865/ "DO", https://pubmed.ncbi.nlm.nih.gov/17878207/ "DO"] synonym: "MDDGB" EXACT [] xref: MIM:PS613155 is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy created_by: mtutaj creation_date: 2022-06-02T19:35:43Z [Term] id: DOID:0112376 name: muscular dystrophy-dystroglycanopathy type B15 alt_id: DOID:9001076 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the DPM3 gene on chromosome 1q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31469168/ "DO"] synonym: "congenital muscular dystrophy, DPM3-related" EXACT [] synonym: "MDDGB15" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15" EXACT [] xref: MIM:618992 xref: MONDO:0033556 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B created_by: mtutaj creation_date: 2022-06-03T09:09:25Z [Term] id: DOID:0112377 name: muscular dystrophy-dystroglycanopathy type B14 alt_id: DOID:9000748 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the GMPPB gene on chromosome 3p21.31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23768512/ "DO"] synonym: "congenital muscular dystrophy, GMPPB-related" EXACT [] synonym: "MDDGB14" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (Congenital with Impaired Intellectual Development), type B, 14" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14" EXACT [] xref: MIM:615351 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2022-06-03T09:11:18Z [Term] id: DOID:0112378 name: muscular dystrophy-dystroglycanopathy type B3 alt_id: DOID:9008630 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT1 gene on chromosome 1p34.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19067344/ "DO", https://pubmed.ncbi.nlm.nih.gov/19299310/ "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B3" EXACT [] synonym: "congenital muscular dystrophy, POMGNT1-related" EXACT [] synonym: "MDDGB3" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 3" EXACT [] xref: MIM:613151 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2022-06-03T09:15:28Z [Term] id: DOID:0112379 name: muscular dystrophy-dystroglycanopathy type B4 alt_id: DOID:9005845 def: "A muscular dystrophy-dystroglycanopathy type B characterized by muscular dystropy resulting from impaired glycosylation of dystroglycan in the absence of intellectual impairment that has_material_basis_in homozygous or compound heterozygous mutation in the FKTN gene on chromosome 9q31.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17878207/ "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy without impaired intellectual development, type B4" EXACT [] synonym: "congenital muscular dystrophy, FKTN-related" EXACT [] synonym: "MDDGB4" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital without mental retardation), Type B, 4" EXACT [] xref: MIM:613152 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B created_by: mtutaj creation_date: 2022-06-03T09:45:53Z [Term] id: DOID:0112380 name: muscular dystrophy-dystroglycanopathy type B2 alt_id: DOID:9005669 def: "A muscular dystrophy-dystroglycanopathy type B that has_material_basis_in homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17634419/ "DO"] synonym: "congenital muscular dystrophy-dystroglycanopathy with impaired intellectual development, type B2" EXACT [] synonym: "congenital muscular dystrophy-dystroglycanopathy with mental retardation, type B2" EXACT [] synonym: "congenital muscular dystrophy, POMT2-related" EXACT [] synonym: "MDDGB2" EXACT [] synonym: "Muscular Dystrophy-Dystroglycanopathy (congenital with mental retardation), Type B, 2" EXACT [] xref: MIM:613156 xref: NCI:C126690 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0112375 ! muscular dystrophy-dystroglycanopathy type B is_a: DOID:1059 ! intellectual disability created_by: mtutaj creation_date: 2022-06-03T09:49:42Z [Term] id: DOID:0112381 name: muscular dystrophy-dystroglycanopathy type C12 alt_id: DOID:9006042 def: "A muscular dystrophy-dystroglycanopathy characterized by limb-girdle congenital muscular dystrophy and cognitive impairment that has_material_basis_in homozygous or compound heterozygous mutation in the POMK gene on chromosome 8p11.21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24925318/ "DO"] synonym: "LGMD due to POMK deficiency" EXACT [] synonym: "Limb-girdle muscular dystrophy due to POMK deficiency" EXACT [] synonym: "MDDGC12" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMK-RELATED" EXACT [] xref: EFO:0010955 xref: MIM:616094 xref: ORDO:445110 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy created_by: mtutaj creation_date: 2022-06-03T09:51:37Z [Term] id: DOID:0112382 name: muscular dystrophy-dystroglycanopathy type C8 alt_id: DOID:9001671 def: "A muscular dystrophy-dystroglycanopathy characterized by onset in childhood of a variable phrenotype that ranges from mild intellectual disability and gait abnormalities to asymptomatic that has_material_basis_in homozygous or compound heterozygous mutation in the POMGNT2 gene on chromosome 3p22.1. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27066570/ "DO"] synonym: "Autosomal Recessive Limb-Girdle Muscular Dystrophy 24" EXACT [] synonym: "Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 24" EXACT [] synonym: "LGMDR24" EXACT [] synonym: "limb-girdle muscular dystrophy-dystroglycanopathy (type C8)" EXACT [] synonym: "MDDGC8" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 8" EXACT [] synonym: "MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY, LIMB-GIRDLE, POMGNT2-RELATED" EXACT [] xref: MIM:618135 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy is_a: DOID:0112374 ! muscular dystrophy-dystroglycanopathy created_by: mtutaj creation_date: 2022-06-03T09:56:53Z [Term] id: DOID:0112383 name: KINSSHIP syndrome alt_id: DOID:9001233 def: "A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18616733/ "DO", https://pubmed.ncbi.nlm.nih.gov/33961779/ "DO"] synonym: "horseshoe KIdney, Nievergelt/Savarirayan mesomelic dysplasia, Seizures, Hypertrichosis, impaired Intellectual development, Pulmonary involvement" EXACT [] synonym: "KINS" EXACT [] synonym: "MESOMELIC DYSPLASIA, AFF3-RELATED" EXACT [] synonym: "MESOMELIC DYSPLASIA, STEICHEN-GERSDORF TYPE" EXACT [] xref: MIM:619297 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9009006 ! Mesomelic Dysplasia created_by: mtutaj creation_date: 2022-06-03T10:27:42Z [Term] id: DOID:070355 name: multisystem proteinopathy def: "A motor neuron disease that has_material_basis_in some inheritance and affects muscle, bone, and the nervous system. (DO)" [https://n.neurology.org/content/85/8/658 "DO"] is_a: DOID:231 ! motor neuron disease [Term] id: DOID:100 name: intestinal infectious disease def: "An intestinal disease that involves intestinal infection that has_material_basis_in viruses, bacteria, fungi and parasites. (DO)" [http://en.wikipedia.org/wiki/Intestine "DO"] synonym: "bacterial enteritis" EXACT [] xref: ICD10CM:A00-A09 xref: ICD9CM:001-009.99 xref: RDO:9004384 is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10003 name: sensorineural hearing loss def: "An inner ear disease that is characterized by hearing loss resulting from damage to the cochlea, auditory nerve and/or brainstem. (DO)" [https://medlineplus.gov/ency/article/003291.htm "DO"] synonym: "autosomal dominant deafness with peripheral neuropathy" NARROW [] synonym: "bilateral sensorineural hearing impairment" NARROW [] synonym: "central hearing loss" EXACT [] synonym: "cochlear hearing loss" EXACT [] synonym: "CONGENITAL SENSORINEURAL HEARING IMPAIRMENT" NARROW [] synonym: "perceptive deafness" EXACT [] synonym: "perceptive hearing loss" EXACT [] synonym: "perceptive hearing loss or deafness" EXACT [] synonym: "progressive sensorineural hearing impairment" NARROW [] synonym: "sensorineural deafness" EXACT [] synonym: "sensorineural hearing loss disorder" EXACT [] synonym: "sensory hearing loss" EXACT [] xref: EFO:1001176 xref: ICD10CM:H90.5 xref: ICD9CM:389.1 xref: MESH:D006319 xref: NCI:C26739 xref: NCI:C34662 is_a: DOID:2952 ! inner ear disease is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:10011 name: thyroid lymphoma def: "A thyroid gland cancer that has_material_basis_in lymphocytes. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK544282/ "DO"] xref: NCI:C5265 is_a: DOID:0060058 ! lymphoma is_a: DOID:1781 ! thyroid cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10016 name: multiple endocrine neoplasia type 2B alt_id: MIM:162300 def: "A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. (DO)" [http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b "DO", http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/15965261 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract "DO"] synonym: "MEA 2b" EXACT [] synonym: "MEA IIb" EXACT [] synonym: "MEN 2b" EXACT [] synonym: "MEN2b" EXACT [] synonym: "MEN 3" EXACT [] synonym: "MEN3" NARROW [] synonym: "MEN IIb" EXACT [] synonym: "MEN III" EXACT [] synonym: "MEN type IIB" EXACT [] synonym: "MUCOSAL NEUROMA SYNDROME" NARROW [] synonym: "mucosal neuroma syndromes" EXACT [] synonym: "mucosal neuromata with endocrine tumors" EXACT [] synonym: "multiple endocrine neoplasia, type 3" EXACT [] synonym: "Multiple Endocrine Neoplasia, Type IIb" EXACT [] synonym: "MULTIPLE ENDOCRINE NEOPLASIA, TYPE III" NARROW [] synonym: "multiple endocrine neoplasms type 2B" EXACT [] synonym: "Wagenmann Froboese syndrome" EXACT [] xref: ICD10CM:E31.23 xref: ICD9CM:258.03 xref: MESH:D018814 xref: NCI:C3227 xref: ORDO:247709 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:10017 name: multiple endocrine neoplasia type 1 alt_id: MIM:131100 def: "A multiple endocrine neoplasia that has_material_basis_in a mutation in the MEN1 tumor suppressor gene and is characterized by over active endocrine glands frequently involving tumors of the parathyroid glands, the pituitary gland, and the pancreas. (DO)" [http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_1 "DO", http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000398.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/25509899 "DO"] synonym: "MEA 1" EXACT [] synonym: "MEA I" EXACT [] synonym: "MEN 1" EXACT [] synonym: "MEN1" EXACT [] synonym: "MEN1-RELATED CONDITION" EXACT [] synonym: "MEN I" EXACT [] synonym: "MEN type I" EXACT [] synonym: "multiple endocrine neoplasia type I" EXACT [] synonym: "multiple endocrine neoplasms type 1" EXACT [] synonym: "multiple endocrine neoplasms type I" EXACT [] synonym: "Wermer's syndrome" EXACT [] synonym: "Wermer syndrome" EXACT [] synonym: "Wermer syndrome MEN1 somatic mutations" NARROW [] xref: GARD:3829 xref: ICD10CM:E31.21 xref: ICD9CM:258.01 xref: MESH:D018761 xref: NCI:C3225 xref: ORDO:652 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3125 ! multiple endocrine neoplasia [Term] id: DOID:1002 name: endometritis def: "An endometrial disease that is characterized by inflammation of the endometrium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7511354 "DO"] synonym: "endomyometritis" EXACT [] xref: EFO:1001312 xref: MESH:D004716 xref: NCI:C26764 is_a: DOID:1003 ! pelvic inflammatory disease is_a: DOID:1005 ! endometrial disease is_a: DOID:345 ! uterine disease [Term] id: DOID:10020 name: ampulla of Vater cancer def: "A duodenum cancer that is located_in the ampulla of Vater. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25485917/ "DO"] synonym: "malignant tumour of ampulla of Vater" EXACT [] xref: ICD10CM:C24.1 xref: ICD9CM:156.2 xref: NCI:C3536 is_a: DOID:10021 ! duodenum cancer is_a: DOID:4606 ! bile duct cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:10021 name: duodenum cancer def: "A small intestine cancer that is located_in the beginning section of the small intestine. (DO)" [http://en.wikipedia.org/wiki/Duodenal_cancer "DO"] synonym: "cancer of duodenum" EXACT [] synonym: "duodenal cancer" EXACT [] xref: ICD10CM:C17.0 xref: ICD9CM:152.0 xref: NCI:C4803 xref: NCI:C9328 is_a: DOID:10154 ! small intestine cancer is_a: DOID:9000256 ! Duodenal Neoplasms created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:10022 name: ampulla of Vater benign neoplasm def: "A duodenal benign neoplasm that is located_in the ampulla of Vater. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5620475/ "DO"] synonym: "tumor of the ampulla of Vater" EXACT [] xref: NCI:C4443 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:1737 ! duodenal benign neoplasm is_a: DOID:4138 ! bile duct disease [Term] id: DOID:10024 name: migraine with aura alt_id: MIM:609179 alt_id: MIM:609670 def: "A migraine characterized by migraine headache which is preceded or accompanied by a transient focal neurological phenomenon. (DO)" [http://en.wikipedia.org/wiki/Migraine "DO", http://www.mayoclinic.org/diseases-conditions/migraine-with-aura/basics/definition/con-20030404 "DO"] synonym: "acute onset aura migraine" EXACT [] synonym: "basilar artery migraine" EXACT [] synonym: "basilar migraine" EXACT [] synonym: "basilar migraines" EXACT [] synonym: "basilar type migraine" EXACT [] synonym: "Classical Migraine" EXACT [] synonym: "Classic Migraine" EXACT [] synonym: "Complicated Migraine" EXACT [] synonym: "Hemiplegic-Ophthalmoplegic Migraine" EXACT [] synonym: "MGR13" RELATED [] synonym: "MGR7" RELATED [] synonym: "MGR9" RELATED [] synonym: "Migraine Aura without Headache" EXACT [] synonym: "Migraine with Acute Onset Aura" EXACT [] synonym: "migraine with auras" EXACT [] synonym: "migraine with aura, susceptibility to, 7" RELATED [] synonym: "migraine with aura, susceptibility to, 9" RELATED [] synonym: "migraine with prolonged aura" EXACT [] synonym: "migraine with typical aura" EXACT [] synonym: "prolonged aura migraine" EXACT [] synonym: "typical aura without headache" EXACT [] xref: EFO:0005295 xref: ICD10CM:G43.1 xref: ICD9CM:346.0 xref: MESH:D020325 xref: MONDO:0005475 xref: NCI:C117005 is_a: DOID:6364 ! migraine [Term] id: DOID:10027 name: tabes dorsalis def: "A tertiary neurosyphilis that results in slow degeneration of the nerve cells and nerve fibers that carry sensory information to the brain. The infection has symptom intense, stabbing pain in the back and legs that recurs irregularly, has symptom gait ataxia, has symptom hyperesthesia, has symptom paresthesia, has symptom loss of bladder sensation leading to urine retention, has symptom erectile dysfunction. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO", http://www.ninds.nih.gov/disorders/tabes_dorsalis/tabes_dorsalis.htm "DO"] synonym: "Locomotor Ataxia" EXACT [] synonym: "Locomotor Ataxias" EXACT [] synonym: "Myelosyphilis" EXACT [] synonym: "posterior spinal sclerosis" EXACT [] synonym: "Spinal Cord Syphilis" EXACT [] synonym: "Spinal Meningovascular Syphilis" EXACT [] synonym: "Syphilitic Meningomyelitides" EXACT [] synonym: "Syphilitic Meningomyelitis" EXACT [] synonym: "tabes dorsalis - neurosyphilis" EXACT [] synonym: "Tabes Spinalis" EXACT [] synonym: "Tabetic Neurosyphilis" EXACT [] xref: EFO:0007505 xref: GARD:8730 xref: ICD10CM:A52.11 xref: ICD9CM:094.0 xref: MESH:D013606 xref: NCI:C35057 is_a: DOID:319 ! spinal cord disease is_a: DOID:9001414 ! Neurosyphilis is_a: DOID:9988 ! tertiary neurosyphilis [Term] id: DOID:1003 name: pelvic inflammatory disease def: "A female reproductive system disease that is characterized by an infection of the female reproductive organs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25992748 "DO"] synonym: "adnexitis" EXACT [] synonym: "inflammatory pelvic diseases" EXACT [] synonym: "PID" EXACT [] xref: EFO:1001388 xref: ICD10CM:N73.9 xref: ICD9CM:614.9 xref: MESH:D000292 xref: NCI:C3889 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9000129 ! Pelvic Infection is_a: DOID:9003261 ! Adnexal Diseases [Term] id: DOID:10030 name: pulmonary interstitial emphysema def: "A pulmonary emphysema that is characterized by the abnormal location of gas within the pulmonary interstitium and lymphatics usually due to positive pressure ventilation. (DO)" [https://radiopaedia.org/articles/pulmonary-interstitial-emphysema?lang=us "DO", https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/p/pulmonary-interstitial-emphysema.html "DO"] synonym: "interstitial emphysema" EXACT [] xref: ICD10CM:J98.2 xref: ICD9CM:518.1 xref: NCI:C34571 is_a: DOID:9001931 ! Hereditary Pulmonary Emphysema [Term] id: DOID:10031 name: compensatory emphysema def: "A pulmonary emphysema that is characterized by overinflation of part of a lung in response to either removal by surgery of another part of the lung or deceased size of another part of the lung. (DO)" [https://en.wikipedia.org/wiki/Pneumatosis "DO", https://www.google.com/books/edition/Airway_Stenting_in_Interventional_Radiol/oQ92DwAAQBAJ?hl=en&gbpv=1&dq=Compensatory+emphysema&pg=PA27 "DO"] xref: ICD10CM:J98.3 xref: ICD9CM:518.2 is_a: DOID:9001931 ! Hereditary Pulmonary Emphysema [Term] id: DOID:10032 name: hyperlucent lung def: "A lung disease that is characterized by increased lucency compared to the other lung on a chest radiograph or CT. (DO)" [https://journal.chestnet.org/article/S0012-3692(19)31381-9/fulltext "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4587024/ "DO"] synonym: "Hyperlucent Lungs" EXACT [] synonym: "Hyperlucent Thorax" EXACT [] synonym: "MacLeod Syndrome" EXACT [] synonym: "Swyer James Syndrome" EXACT [] synonym: "Unilateral Hyperlucent Lung" EXACT [] synonym: "Unilateral Hyperlucent Lungs" EXACT [] xref: MESH:D019568 is_a: DOID:850 ! lung disease is_a: DOID:9001931 ! Hereditary Pulmonary Emphysema [Term] id: DOID:10033 name: cycloplegia def: "An eye accommodation disease that is characterized by paralysis of the ciliary muscle of the eye, resulting in a loss of accommodation. (DO)" [https://en.wikipedia.org/wiki/Cycloplegia "DO"] synonym: "ciliary muscle paresis" EXACT [] synonym: "cycloplegic paralysis of accommodation" EXACT [] synonym: "paresis of accommodation" EXACT [] xref: EFO:0005758 xref: ICD10CM:H52.52 xref: ICD9CM:367.51 is_a: DOID:10034 ! eye accommodation disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10034 name: eye accommodation disease def: "An eye disease that is characterized by decreased ability to change the optical power of the eye to maintain a clear image. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20582770 "DO"] xref: ICD10CM:H52.5 xref: ICD9CM:367.5 is_a: DOID:5614 ! eye disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10035 name: asymptomatic neurosyphilis def: "A tertiary neurosyphilis that results_in mild meningitis. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"] xref: ICD10CM:A52.2 xref: ICD9CM:094.3 xref: RDO:9002434 is_a: DOID:9988 ! tertiary neurosyphilis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10039 name: late congenital syphilis def: "A congenital syphilis that occurs in children at or greater than two years of age who acquired the infection trans-placentally. The infection has_symptom gummatous ulcers, has_symptom periosteal lesions, has_symptom paresis, has_symptom tabes, has_symptom optic atrophy, has_symptom interstitial keratitis, has_symptom sensorineural deafness, and has_symptom dental deformities. (DO)" [http://en.wikipedia.org/wiki/Late_congenital_syphilis "DO", http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html "DO"] synonym: "juvenile neurosyphilis" EXACT [] xref: EFO:0007339 xref: ICD10CM:A50.40 xref: ICD10CM:A50.5 xref: ICD9CM:090.4 xref: ICD9CM:090.5 xref: RDO:9002435 is_a: DOID:9856 ! congenital syphilis is_a: DOID:9988 ! tertiary neurosyphilis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10040 name: malignant eyelid melanoma def: "A skin melanoma that arises from the upper or lower eyelid. (DO)" [https://eyewiki.aao.org/Malignant_Melanoma_of_the_Eyelid "DO"] xref: NCI:C4358 is_a: DOID:0060116 ! sensory system cancer is_a: DOID:2173 ! eyelid benign neoplasm is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10041 name: dysplastic nevus syndrome def: "A syndrome that is characterized by the presence of multiple dysplastic nevi (atypical moles) and a history of melanoma in two family members. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/familial-atypical-multiple-mole-melanoma-syndrome "DO"] synonym: "B K mole syndrome" EXACT [] synonym: "dysplastic nevi" EXACT [] synonym: "dysplastic nevus" EXACT [] synonym: "familial atypical multiple mole-melanoma" EXACT [] synonym: "FAMMM" EXACT [] synonym: "FAMM syndrome" EXACT [] xref: EFO:0004199 xref: GARD:9281 xref: MESH:D004416 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9002969 ! Nevus is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:10044 name: balloon cell malignant melanoma def: "A skin melanoma that is characterized by the presence of nodules which contain large melanoma cells with clear, foamy or finely vacuolated cytoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27984232/ "DO"] xref: NCI:C4227 is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10047 name: nodular malignant melanoma def: "A melanoma that is characterized as highly aggressive and manifests as a uniform blue-black, blue-red, or amelanotic nodule. (DO)" [http://en.wikipedia.org/wiki/Nodular_melanoma "DO", http://www.clevelandclinicmeded.com/medicalpubs/diseasemanagement/dermatology/cutaneous-malignant-melanoma/ "DO"] synonym: "EFO:0008515" EXACT [] synonym: "nodular melanoma" EXACT [SNOMEDCT_2005_07_31:2142002] xref: EFO:0008515 xref: GARD:9961 xref: NCI:C4225 xref: RDO:9003243 is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:1005 name: endometrial disease def: "A uterine disease that is located_in the endometrium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25100707 "DO"] synonym: "endometrial diseases" EXACT [] xref: NCI:C3504 is_a: DOID:345 ! uterine disease [Term] id: DOID:10054 name: skin amelanotic melanoma def: "A skin melanoma that is characterized by a lack of melanin pigment in most of the melanoma tumor cells. (DO)" [https://dermnetnz.org/topics/amelanotic-melanoma/ "DO"] synonym: "EFO:0002894" EXACT [] synonym: "skin amelanotic malignant melanoma" EXACT [] xref: EFO:0002894 xref: NCI:C4633 is_a: DOID:4359 ! amelanotic melanoma is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10069 name: subglottis benign neoplasm def: "A laryngeal benign neoplasm that is located_in the subglottic area of the larynx. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4427 "DO"] synonym: "subglottic tumor" EXACT [] xref: NCI:C4426 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:10070 name: larynx leiomyoma def: "A laryngeal benign neoplasm that derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20737370 "DO"] xref: NCI:C6027 is_a: DOID:127 ! leiomyoma is_a: DOID:2598 ! laryngeal benign neoplasm created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10071 name: larynx squamous papilloma def: "A laryngeal benign neoplasm that is characterized by the presence of a connective tissue core covered by stratified squamous epithelium and that has_symptom hoarseness. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK562327/ "DO"] synonym: "Laryngeal Squamous Cell Papilloma" EXACT [] xref: NCI:C7742 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:10073 name: syphilitic meningitis def: "A bacterial meningitis that is characterized by inflammation of the tissues covering the brain and spinal cord. (DO)" [https://medlineplus.gov/ency/article/000724.htm "DO"] synonym: "meningeal syphilis" EXACT [] synonym: "syphilitic aseptic meningitis" EXACT [] xref: GARD:8731 xref: ICD9CM:094.2 xref: MESH:C536775 is_a: DOID:9001414 ! Neurosyphilis is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:10074 name: hymenolepiasis def: "A parasitic helminthiasis infectious disease that involves infection of the bowel by Hymenolepis nana or Hymenolepis diminuta. The symptoms include diarrhea, gastrointestinal discomfort, itchy anus, poor appetite and weakness. (DO)" [http://en.wikipedia.org/wiki/Hymenolepiasis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001378.htm "DO"] synonym: "dwarf tapeworm infection" EXACT [] synonym: "Hymenolepiases" EXACT [] synonym: "Hymenolepis Infection" EXACT [] synonym: "Hymenolepis Infections" EXACT [] synonym: "hymenolepis infectious disease" EXACT [] xref: EFO:0007317 xref: GARD:2787 xref: ICD10CM:B71.0 xref: ICD9CM:123.6 xref: MESH:D006925 xref: NCI:C84768 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9006970 ! Cestode Infections [Term] id: DOID:10075 name: diphyllobothriasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia. (DO)" [http://en.wikipedia.org/wiki/Diphyllobothrium "DO", http://www.dpd.cdc.gov/dpdx/HTML/Diphyllobothriasis.htm "DO"] synonym: "Diphyllobothriases" EXACT [] synonym: "Diphyllobothrium infection" EXACT [] synonym: "fish tapeworm" EXACT [] xref: EFO:0007238 xref: GARD:942 xref: ICD10CM:B70.0 xref: ICD9CM:123.4 xref: MESH:D004169 xref: NCI:C128391 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9006970 ! Cestode Infections [Term] id: DOID:10079 name: cysticercosis def: "A taeniasis that results from ingestion of eggs or larvae of the Taenia solium tapeworm in undercooked pork or fecally contaminated food or water, which subsequently infect the central nervous system, heart, muscles, subcutaneous tissues, and eyes. Neurocysticercosis causes seizures, mental disturbances, focal neurologic deficits and intracerebral lesions. (DO)" [http://en.wikipedia.org/wiki/Cysticercosis "DO"] synonym: "cysticercoses" EXACT [] synonym: "intestinal taenia solium infection" EXACT [] synonym: "pork tapeworm infection" EXACT [] synonym: "tapeworm infection intestinal taenia solum" EXACT [] synonym: "tenia solium infectious disease" EXACT [] xref: EFO:0007231 xref: GARD:8194 xref: ICD10CM:B69 xref: ICD9CM:123.1 xref: MESH:D003551 xref: NCI:C34520 is_a: DOID:0050596 ! taeniasis is_a: DOID:114 ! heart disease is_a: DOID:5614 ! eye disease is_a: DOID:66 ! muscle tissue disease is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:10080 name: sparganosis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected. (DO)" [http://en.wikipedia.org/wiki/Sparganosis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Sparganosis.htm "DO"] synonym: "infection by Sparganum" EXACT [] synonym: "sparganoses" EXACT [] xref: EFO:0007488 xref: ICD10CM:B70.1 xref: ICD9CM:123.5 xref: MESH:D013031 xref: NCI:C35030 is_a: DOID:0080784 ! urinary tract infection is_a: DOID:10075 ! diphyllobothriasis is_a: DOID:2952 ! inner ear disease is_a: DOID:3463 ! breast disease is_a: DOID:850 ! lung disease is_a: DOID:936 ! brain disease [Term] id: DOID:10081 name: syphilitic encephalitis def: "An encephalitis that has_material_basis_in central neural system infection by Treponema pallidum. (DO)" [https://link.springer.com/article/10.1007/s10072-017-3109-0 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5884904/ "DO"] xref: ICD9CM:094.81 is_a: DOID:9003824 ! Infectious Encephalitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10087 name: gastric leiomyoma def: "A gastrointestinal system benign neoplasm that is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern. (DO)" [https://radiopaedia.org/articles/gastric-leiomyoma?lang=us "DO"] synonym: "leiomyoma of the stomach" EXACT [] xref: NCI:C3876 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10095 name: intracranial abscess def: "A central nervous system disease that is located_in the skull and is characterized by a collection of pus (infected material) inside the skull. (DO)" [https://www.nlm.nih.gov/medlineplus/ency/article/001416.htm "DO"] xref: ICD9CM:324.0 xref: NCI:C34734 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:10112 name: sleeping sickness def: "A trypanosomiasis that results from infection by Trypanosoma brucei and gambiense, which is transmitted by the bite of an infected tsetse fly (Glossina spp). The symptoms include fever, headache, joint pain, itching, confusion, sensory disturbances, poor coordination and sleep disturbances. (DO)" [http://en.wikipedia.org/wiki/African_trypanosomiasis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001362.htm "DO", http://www.who.int/mediacentre/factsheets/fs259/en/ "DO"] synonym: "African sleeping sickness" EXACT [] synonym: "African trypanosomiasis" EXACT [] synonym: "human African trypanosomiasis" EXACT [] synonym: "Nagana" EXACT [] xref: EFO:0005225 xref: GARD:7826 xref: ICD10CM:B56 xref: ICD9CM:086.5 xref: MESH:D014353 xref: NCI:C84541 xref: ORDO:3385 is_a: DOID:10113 ! trypanosomiasis [Term] id: DOID:10113 name: trypanosomiasis def: "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans. (DO)" [http://en.wikipedia.org/wiki/Trypanosomiasis "DO"] synonym: "Trypanosomiases" EXACT [] xref: ICD10CM:B57.2 xref: ICD9CM:086 xref: MESH:D014352 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9007293 ! Euglenozoa Infections [Term] id: DOID:10122 name: hyperpigmentation of eyelid alt_id: MIM:145100 def: "An eyelid disease that is characterized by dark eyelids. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4756872/ "DO"] synonym: "dark eyelids" EXACT [] synonym: "dyspigmentation of eyelid" EXACT [] xref: EFO:1000711 xref: ICD10CM:H02.71 xref: ICD9CM:374.52 xref: MESH:C562400 is_a: DOID:530 ! eyelid disease is_a: DOID:9003984 ! Hyperpigmentation [Term] id: DOID:10123 name: pigmentation disease def: "A skin disease that is characterized by discoloration of the skin. (DO)" [https://medlineplus.gov/skinpigmentationdisorders.html "DO"] synonym: "Ito Syndrome" EXACT [] synonym: "Pigmentation Disorder" EXACT [] synonym: "Pigmentation Disorders" EXACT [] synonym: "Schamberg's disease" EXACT [] synonym: "Schamberg disease" EXACT [] synonym: "Schambergs disease" EXACT [] xref: EFO:1000755 xref: ICD9CM:709.09 xref: MESH:D010859 xref: MIM:PS227220 xref: MONDO:0019288 is_a: DOID:37 ! skin disease is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:10124 name: corneal disease def: "An eye disease that affects the cornea, which is the transparent surface of the eye that assists in light refraction. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26731 "DO"] synonym: "corneal diseases" EXACT [] xref: EFO:0009464 xref: ICD10CM:H18.9 xref: ICD9CM:371.9 xref: MESH:D003316 xref: NCI:C26731 is_a: DOID:5614 ! eye disease [Term] id: DOID:10125 name: acute hydrops keratoconus def: "A keratoconus that is characterized by stromal edema due to leakage of aqueous humor through a tear in Descemet's membrane. (DO)" [https://en.wikipedia.org/wiki/Corneal_hydrops "DO", https://webeye.ophth.uiowa.edu/eyeforum/cases/241-acute-corneal-hydrops.htm "DO"] xref: ICD9CM:371.62 is_a: DOID:10126 ! keratoconus created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10126 name: keratoconus def: "A corneal disease characterized by structural changes within the cornea causing it to thin and change, leading to a protruding conical shape. (DO)" [http://en.wikipedia.org/wiki/Keratoconus "DO", http://ghr.nlm.nih.gov/glossary=keratoconus "DO"] synonym: "conical cornea" EXACT [] xref: EFO:0004223 xref: GARD:6824 xref: ICD10CM:H18.6 xref: ICD9CM:371.6 xref: MESH:D007640 xref: MIM:PS148300 xref: MONDO:0015486 xref: NCI:C26806 xref: ORDO:156071 is_a: DOID:10124 ! corneal disease [Term] id: DOID:10127 name: cerebral artery occlusion def: "A cerebrovascular disease that is characterized by blockage in one or more of the cerebral arteries. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8584085/ "DO"] xref: ICD9CM:434 is_a: DOID:3527 ! cerebral arterial disease created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:10128 name: venous insufficiency def: "A vein disease that is characterized by impaired flow of blood through the veins. (DO)" [http://my.clevelandclinic.org/disorders/venous_insufficiency/hic_venous_insufficiency.aspx "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000203.htm "DO"] synonym: "peripheral venous insufficiency" EXACT [] synonym: "Venous Insufficiencies" EXACT [] xref: ICD9CM:459.81 xref: MESH:D014689 xref: NCI:C127822 is_a: DOID:866 ! vein disease [Term] id: DOID:10131 name: psychologic vaginismus def: "A psychosexual disorder that is characterized by involuntary spasm of the outer muscles of the vagina during penetration that results from a psychological cause. (DO)" [https://my.clevelandclinic.org/health/diseases/15723-vaginismus "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35113 "DO"] synonym: "functional vaginismus" EXACT [] synonym: "non-organic vaginismus" EXACT [] synonym: "psychogenic vaginismus" EXACT [] synonym: "vaginismus" EXACT [] xref: ICD10CM:F52.5 xref: ICD9CM:306.51 xref: MESH:D052065 xref: NCI:C35113 is_a: DOID:10132 ! psychosexual disorder is_a: DOID:121 ! vaginal disease is_a: DOID:1876 ! sexual dysfunction [Term] id: DOID:10132 name: psychosexual disorder def: "A sexual disorder that is characterized as a sexual problem that is psychological, rather than physiological in origin. (DO)" [https://en.wikipedia.org/wiki/Psychosexual_disorder "DO"] synonym: "psychological sexual dysfunction" EXACT [] synonym: "psychological sexual dysfunctions" EXACT [] synonym: "psychosexual disorders" EXACT [] synonym: "psychosexual dysfunction" EXACT [] synonym: "psychosexual dysfunctions" EXACT [] xref: ICD9CM:302.79 is_a: DOID:0060043 ! sexual health disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10138 name: xerophthalmia def: "A dry eye syndrome that is characterized by conjunctival and corneal xerosis, Bitot's spots, keratomalacia, nyctalopia, and retinopathy resulting from vitamin A deficiency. (DO)" [https://www.nature.com/articles/eye201417 "DO", https://www.ncbi.nlm.nih.gov/books/NBK431094/ "DO"] synonym: "conjunctival xerosis" EXACT [] synonym: "Xerophthalmias" EXACT [] xref: ICD10CM:E50.7 xref: ICD9CM:375.15 xref: MESH:D014985 xref: NCI:C34503 is_a: DOID:10140 ! dry eye syndrome is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:10139 name: conjunctival degeneration xref: ICD10CM:H11.10 xref: ICD9CM:372.50 is_a: DOID:4251 ! conjunctival disease is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10140 name: dry eye syndrome def: "A lacrimal apparatus disease that is characterized by persistent irritation or burning of the coreneal surface. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29498987/ "DO"] synonym: "dry eye disease" EXACT [] synonym: "dry eye syndromes" EXACT [] synonym: "tear film insufficiency" EXACT [] xref: EFO:1000906 xref: ICD10CM:H04.12 xref: MESH:D015352 xref: NCI:C34553 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:225 ! syndrome [Term] id: DOID:10146 name: thymus lymphoma def: "A thymus cancer that arises from the thymus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12063471/ "DO"] synonym: "EFO:1000054" EXACT [] synonym: "lymphoma of thymus" EXACT [] synonym: "primary thymic lymphoma" EXACT [] synonym: "thymic lymphoma" EXACT [] xref: EFO:1000054 xref: NCI:C134997 xref: NCI:C6451 is_a: DOID:0060058 ! lymphoma is_a: DOID:3277 ! thymus cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10149 name: long bones of lower limb cancer def: "A bone cancer that is manifested in the long bones of the lower limb. (DO)" [http://www.wrongdiagnosis.com/medical/malignant_neoplasm_of_long_bones_of_lower_limb.htm "DO"] synonym: "malignant neoplasm of long bones of leg" EXACT [] xref: ICD10CM:C40.2 xref: ICD9CM:170.7 is_a: DOID:184 ! bone cancer [Term] id: DOID:10151 name: malignant neoplasm of short bones of lower limb def: "A bone cancer that is located in the short bones of lower limbs. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6145567/ "DO"] synonym: "malignant neoplasm of short bone of lower limb" EXACT [SNOMEDCT_2005_07_31:94003005] synonym: "malignant neoplasm of short bones of leg" EXACT [SNOMEDCT_2005_07_31:187964009] xref: ICD10CM:C40.3 xref: ICD9CM:170.8 is_a: DOID:10149 ! long bones of lower limb cancer [Term] id: DOID:10152 name: Meckel's diverticulum cancer def: "An ileum cancer originating from Meckel's diverticulum. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC6582065/ "DO"] synonym: "malignant neoplasm of Meckel's diverticulum" EXACT [] synonym: "Meckel diverticulum cancer" EXACT [] xref: ICD9CM:152.3 is_a: DOID:10153 ! ileum cancer [Term] id: DOID:10153 name: ileum cancer def: "A small intestine cancer that is located_in the ileum. (DO)" [http://en.wikipedia.org/wiki/Ileum "DO"] synonym: "cancer of ileum" EXACT [] synonym: "cancer of the ileum" EXACT [] synonym: "ileal cancer" EXACT [] synonym: "ileal cancers" EXACT [] synonym: "ileum cancers" EXACT [] synonym: "malignant neoplasm of ileum" EXACT [] xref: ICD10CM:C17.2 xref: ICD9CM:152.2 is_a: DOID:10154 ! small intestine cancer is_a: DOID:9000670 ! Ileal Neoplasms [Term] id: DOID:10154 name: small intestine cancer def: "An intestinal cancer that is located_in the small intestine. (DO)" [http://en.wikipedia.org/wiki/Small_intestine "DO"] synonym: "malignant small intestine neoplasm" EXACT [] xref: GARD:9385 xref: ICD10CM:C17 xref: ICD9CM:152.9 xref: MONDO:0000956 xref: NCI:C7523 is_a: DOID:10155 ! intestinal cancer created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:10155 name: intestinal cancer def: "A gastrointestinal system cancer that is located_in the intestine. (DO)" [http://en.wikipedia.org/wiki/Intestine "DO"] synonym: "EFO:0007330" EXACT [] synonym: "intestinal cancers" EXACT [] synonym: "intestines cancer" EXACT [] synonym: "malignant intestinal tumors" EXACT [] synonym: "malignant neoplasm of intestine" EXACT [] xref: EFO:0007330 xref: ICD10CM:C26.0 xref: ICD9CM:159.0 xref: NCI:C4572 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:9002245 ! Intestinal Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10156 name: benign ileal neoplasm def: "A small intestine benign neoplasm that affects the wall of the ileum. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3130 "DO"] synonym: "EFO:1000981" EXACT [] xref: EFO:1000981 is_a: DOID:7505 ! small intestine benign neoplasm is_a: DOID:9000670 ! Ileal Neoplasms [Term] id: DOID:10159 name: osteonecrosis def: "An ischemic bone disease that results_in necrosis located_in bone. (DO)" [http://en.wikipedia.org/wiki/Avascular_necrosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/007260.htm "DO"] synonym: "aseptic necrosis" EXACT [] synonym: "aseptic necrosis of bone" EXACT [] synonym: "avascular necrosis of bone" EXACT [] synonym: "Bone Aseptic Necrosis" EXACT [] synonym: "Bone Avascular Necrosis" EXACT [] synonym: "bone necroses" EXACT [] synonym: "Bone Necrosis" EXACT [] synonym: "Kienbock's Disease" NARROW [] synonym: "Kienbock Disease" NARROW [] synonym: "Kienboeck's disease" NARROW [] synonym: "Kienboeck Disease" NARROW [] synonym: "Kienboecks disease" NARROW [] synonym: "osteonecroses" EXACT [] xref: EFO:0004259 xref: ICD10CM:M87 xref: ICD10CM:M87.9 xref: ICD9CM:732.3 xref: ICD9CM:733.41 xref: ICD9CM:733.42 xref: ICD9CM:733.43 xref: ICD9CM:733.44 xref: MESH:D010020 xref: MIM:PS608805 xref: NCI:C34404 xref: NCI:C34841 xref: NCI:C34880 xref: NCI:C35226 xref: NCI:C35517 is_a: DOID:0080008 ! ischemic bone disease is_a: DOID:9005749 ! Necrosis [Term] id: DOID:10174 name: lacrimal passage granuloma synonym: "Granuloma of lacrimal passages" EXACT [ICD9CM_2006:375.81] xref: ICD10CM:H04.81 xref: ICD9CM:375.81 xref: RDO:9004728 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:530 ! eyelid disease is_a: DOID:9002019 ! Granuloma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10175 name: optic papillitis def: "An optic neuritis that is characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins resulting in swelling around the optic disc. (DO)" [https://en.wikipedia.org/wiki/Optic_papillitis "DO"] synonym: "papillitis" EXACT [] xref: EFO:1001074 xref: ICD10CM:H35.81 xref: ICD10CM:H47.1 xref: ICD10CM:H47.11 xref: ICD9CM:362.83 xref: ICD9CM:377.0 xref: ICD9CM:377.01 is_a: DOID:1210 ! optic neuritis is_a: DOID:146 ! papilledema [Term] id: DOID:10176 name: neuroretinitis def: "An eye disease that is characterized by inflammation of the retina. (DO)" [https://eyewiki.aao.org/Neuroretinitis "DO"] synonym: "juxtapapillary focal retinitis and retinochoroiditis" EXACT [] synonym: "papilloretinitis" EXACT [] is_a: DOID:3612 ! retinitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10177 name: malignant hypertensive renal disease xref: RDO:9002843 is_a: DOID:1073 ! renal hypertension is_a: DOID:10824 ! malignant hypertension created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10183 name: endobronchial lipoma def: "A lipoma that is located within the lumen of a bronchus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5563533/ "DO"] xref: NCI:C5063 is_a: DOID:3315 ! lipoma is_a: DOID:3906 ! bronchial benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10184 name: spindle cell lipoma def: "A lipoma that is an asymptomatic, slow-growing subcutaneous tumor that has a predilection for the posterior back, neck, and shoulders of older men. (DO)" [http://en.wikipedia.org/wiki/Lipoma "DO"] xref: ICDO:8857/0 xref: NCI:C4254 is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10187 name: esophageal lipoma def: "A lipoma located in the esophagus. (DO)" [https://radiopaedia.org/articles/oesophageal-lipoma?lang=us "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5043252/ "DO"] synonym: "lipoma of esophagus" EXACT [] xref: NCI:C5701 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:9000117 ! Esophageal Neoplasms created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10188 name: skin lipoma def: "A skin benign neoplasm that derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23600336 "DO"] synonym: "cutaneous lipoma" EXACT [] synonym: "cutaneous lipomatous tumor" EXACT [] synonym: "lipoma of face" EXACT [] synonym: "lipoma of skin" EXACT [] xref: ICD9CM:214.0 xref: NCI:C4616 xref: NCI:C5566 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:1019 name: osteomyelitis def: "A bone inflammation disease that has_material_basis_in infection located_in bone or located_in bone marrow. (DO)" [http://en.wikipedia.org/wiki/Osteomyelitis "DO", http://my.clevelandclinic.org/disorders/osteomyelitis/hic_osteomyelitis.aspx "DO", http://www.mayoclinic.com/health/osteomyelitis/DS00759 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000437.htm "DO"] synonym: "osteomyelitides" EXACT [] xref: EFO:0003102 xref: GARD:7286 xref: ICD9CM:730.1 xref: MESH:D010019 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:1564 ! fungal infectious disease is_a: DOID:3342 ! bone inflammation disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9007047 ! Infectious Bone Diseases [Term] id: DOID:10190 name: liver lipoma def: "A lipoma located in the liver. (DO)" [https://radiopaedia.org/articles/hepatic-lipoma-2?lang=us "DO"] synonym: "hepatic lipoma" EXACT [] synonym: "lipoma of the liver" EXACT [] xref: NCI:C5750 is_a: DOID:3315 ! lipoma is_a: DOID:916 ! liver benign neoplasm created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:10192 name: pleomorphic lipoma def: "A lipoma that is characterized by floret giant cells with overlapping nuclei. (DO)" [http://en.wikipedia.org/wiki/Pleomorphic_lipoma "DO"] synonym: "pleomorphic lipomas" EXACT [] xref: ICDO:8854/0 xref: NCI:C3703 is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10193 name: conventional lipoma def: "A lipoma that is characterized as a benign well-circumscribed tumor, composed of lobules of mature adipocytes, that arises within subcutaneous tissue, deep soft tissues or on the surface of bones. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26857660/ "DO"] synonym: "classic type lipoma" EXACT [] xref: NCI:C27530 is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10194 name: kidney lipoma def: "A lipoma that is located in the kidney. (DO)" [https://www.mayoclinic.org/diseases-conditions/lipoma/symptoms-causes/syc-20374470 "DO"] synonym: "lipoma of kidney" EXACT [] xref: NCI:C5101 is_a: DOID:3116 ! kidney benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10195 name: pleural lipoma def: "A respiratory system benign neoplasm that derives_from fat cells and is located_in the pleura. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29222220 "DO"] synonym: "lipoma of pleura" EXACT [] xref: NCI:C6644 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:9000315 ! Pleural Neoplasms created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10199 name: breast lipoma def: "A breast benign neoplasm that is composed of lipocytes. (DO)" [https://en.wikipedia.org/wiki/Benign_tumor "DO"] synonym: "lipoma of breast" EXACT [] xref: NCI:C4647 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10200 name: chest wall lipoma def: "A thoracic benign neoplasm that derives_from fat cells and is located_in the chest wall. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23919840 "DO"] synonym: "lipoma of the chest wall" EXACT [] xref: NCI:C6719 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10201 name: gallbladder lipoma def: "A gallbladder benign neoplasm that is located_in the gallbladder and derives_from fat cells. (DO)" [https://link.springer.com/referenceworkentry/10.1007%2F978-3-319-26587-2_156-1 "DO"] synonym: "lipoma of the gallbladder" EXACT [] xref: NCI:C5835 is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10203 name: external ear lipoma def: "An auditory system benign neoplasm that is located in the external ear. (DO)" [https://clinmedjournals.org/articles/ijdrt/journal-of-dermatology-research-and-therapy-ijdrt-1-010.pdf "DO"] synonym: "external auditory meatus lipoma" EXACT [] synonym: "lipoma of external auditory meatus" EXACT [] synonym: "lipoma of the external ear" EXACT [] xref: NCI:C4618 is_a: DOID:0080619 ! auditory system benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10205 name: axillary lipoma def: "An thoracic benign neoplasm that is located_in the axilla, an area directly under the arm and shoulder joint composed_of adipose tissue. (DO)" [http://en.wikipedia.org/wiki/Axilla "DO", http://en.wikipedia.org/wiki/Lipoma "DO"] synonym: "lipoma of axilla" EXACT [] xref: NCI:C35419 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10206 name: lipoma of spermatic cord def: "A paratesticular lipoma that is located_in the spermatic cord and derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1422475/ "DO"] synonym: "spermatic cord lipoma" EXACT [] xref: ICD9CM:214.4 xref: NCI:C3606 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:10207 ! paratesticular lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10207 name: paratesticular lipoma def: "A reproductive organ benign neoplasm that derives_from fat cells located_in the paratesticular region. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11103506/ "DO"] xref: NCI:C6384 is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10208 name: chondroid lipoma def: "A lipoma that is a deep-seated, firm, yellow tumors that characteristically occur on the legs of women. (DO)" [http://en.wikipedia.org/wiki/Lipoma "DO"] xref: ICDO:8862/0 xref: NCI:C6503 is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10209 name: extrahepatic bile duct lipoma def: "A biliary tract benign neoplasm that is located_in the extrahepatic bile duct and derives_from fat cells. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer "DO"] synonym: "Lipoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5854] xref: NCI:C5854 xref: RDO:9003931 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:4138 ! bile duct disease is_a: DOID:9002936 ! Bile Duct Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10211 name: cholelithiasis def: "Presence or formation of GALLSTONES in the BILIARY TRACT, usually in the gallbladder (CHOLECYSTOLITHIASIS) or the common bile duct (CHOLEDOCHOLITHIASIS)." [MESH:D002769] synonym: "Cholelithiases" EXACT [] xref: EFO:0004799 xref: ICD9CM:574.5 xref: MESH:D002769 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:1022 name: pinta disease def: "A primary bacterial infectious disease that results_in infection located_in skin, has_material_basis_in Treponema carateum, which is transmitted_by contact with skin and mucous membrane of an infected person. The infection has_symptom pruritic plaque, which slowly enlarges and becomes pigmented and hyperkeratotic. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26304920 "DO"] synonym: "pinta" EXACT [] xref: EFO:1001396 xref: GARD:7397 xref: ICD10CM:A67.0 xref: ICD10CM:A67.1 xref: ICD10CM:A67.2 xref: ICD10CM:A67.3 xref: ICD10CM:A67.9 xref: ICD9CM:103 xref: ICD9CM:103.0 xref: ICD9CM:103.1 xref: ICD9CM:103.2 xref: ICD9CM:103.3 xref: MESH:D010874 xref: NCI:C85011 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9000746 ! Treponemal Infections is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:10223 name: dermatomyositis def: "A myositis that results_in inflammation located_in muscle or located_in skin where a skin rash is often seen prior to the onset of muscle weakness. The disease may result from either a viral infection or an autoimmune reaction. (DO)" [http://en.wikipedia.org/wiki/Dermatomyositis "DO", http://www.myositis.org/learn-about-myositis/types-of-myositis/dermatomyositis "DO"] synonym: "dermatomyositides" EXACT [] synonym: "dermatopolymyositides" EXACT [] synonym: "Dermatopolymyositis" EXACT [] synonym: "polymyositis-dermatomyositides" EXACT [] synonym: "polymyositis dermatomyositis" EXACT [] synonym: "polymyositis with skin involvement" EXACT [] synonym: "sclerodermatomyositis" NARROW [] xref: EFO:0000398 xref: EFO:1001995 xref: GARD:6263 xref: ICD10CM:M33 xref: ICD9CM:710.3 xref: MESH:D003882 xref: NCI:C26744 xref: ORDO:221 is_a: DOID:0080745 ! polymyositis is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:1023 name: borderline leprosy def: "A leprosy that results in small numerous red irregularly shaped plaques. (DO)" [http://en.wikipedia.org/wiki/Borderline_leprosy "DO"] synonym: "Borderline Leprosies" EXACT [] synonym: "borderline or dimorphous leprosy" EXACT [] synonym: "Dimorphous Leprosies" EXACT [] synonym: "Dimorphous Leprosy" EXACT [] synonym: "midborderline leprosy" EXACT [] xref: EFO:0001055 xref: ICD10CM:A30.3 xref: ICD9CM:030.3 xref: MESH:D015439 is_a: DOID:9001594 ! Paucibacillary Leprosy [Term] id: DOID:10230 name: aortic atherosclerosis synonym: "atherosclerosis of aorta" EXACT [] xref: ICD10CM:I70.0 xref: ICD9CM:440.0 is_a: DOID:1936 ! atherosclerosis is_a: DOID:520 ! aortic disease created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:10234 name: histoplasmosis pericarditis synonym: "histoplasmosis with pericarditis" EXACT [] xref: ICD9CM:115.93 is_a: DOID:1731 ! histoplasmosis is_a: DOID:1787 ! pericarditis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10235 name: Brown's tendon sheath syndrome def: "A mechanical strabismus that is characterized by impairment of eye movements. (DO)" [https://rarediseases.org/rare-diseases/brown-syndrome/ "DO"] synonym: "Brown's sheath syndrome" EXACT [] synonym: "Brown tendon sheath syndrome" EXACT [] synonym: "tendon sheath syndrome of Brown" EXACT [] xref: GARD:5963 xref: ICD10CM:H50.61 xref: ICD9CM:378.61 is_a: DOID:9306 ! mechanical strabismus [Term] id: DOID:10236 name: exhibitionism def: "A paraphilia disorder that is characterized by recurrent sexual urges, fantasies, or behaviors involving the exposure of one's genitals to an unsuspecting stranger. (DO)" [https://www.britannica.com/topic/exhibitionism "DO"] synonym: "exhibitionisms" EXACT [] xref: ICD10CM:F65.2 xref: ICD9CM:302.4 xref: MESH:D005084 xref: NCI:C94352 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:1024 name: leprosy alt_id: MIM:246300 alt_id: MIM:607572 alt_id: MIM:609888 alt_id: MIM:610988 alt_id: MIM:613223 alt_id: MIM:613407 def: "A primary bacterial infectious disease that results_in infection located_in superficial peripheral nerves, located_in skin, located_in mucous membranes of the upper respiratory tract, located_in anterior chamber of the eyes, or located_in testes, has_material_basis_in Mycobacterium leprae, which is transmitted_by aerosol spread from infected nasal secretions to exposed nasal and oral mucosa. The infection has_symptom skin lesions, has_symptom sensory loss, has_symptom motor loss and has_symptom eye damage. (DO)" [http://en.wikipedia.org/wiki/Leprosy "DO"] synonym: "Hansen's disease" EXACT [] synonym: "Hansen disease" EXACT [] synonym: "Hansens Disease" EXACT [] synonym: "Leprosies" EXACT [] synonym: "LEPROSY, EARLY-ONSET, SUSCEPTIBILITY TO" NARROW [] synonym: "LEPROSY, PAUCIBACILLARY TYPE, SUSCEPTIBILITY TO, 1" EXACT [] synonym: "LEPROSY, PROTECTION AGAINST" NARROW [] synonym: "leprosy, susceptibility to, 1" RELATED [] synonym: "leprosy, susceptibility to, 2" RELATED [] synonym: "leprosy, susceptibility to, 3" RELATED [] synonym: "leprosy, susceptibility to, 4" RELATED [] synonym: "leprosy, susceptibility to, 5" RELATED [] synonym: "leprosy, susceptibility to, 6" RELATED [] synonym: "LPRS1" RELATED [] synonym: "LPRS2" RELATED [] synonym: "LPRS3" RELATED [] synonym: "LPRS4" RELATED [] synonym: "LPRS5" RELATED [] synonym: "LPRS6" RELATED [] synonym: "susceptibility to leprosy and multibacillary leprosy" RELATED [] xref: EFO:0001054 xref: GARD:6886 xref: ICD10CM:A30 xref: ICD9CM:030 xref: MESH:D007918 xref: NCI:C84824 xref: ORDO:548 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:2519 ! testicular disease is_a: DOID:5614 ! eye disease is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9001415 ! Mycobacterium Infections is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:10241 name: thalassemia def: "A microcytic anemia characterized by decreased synthesis of one or more hemoglobin polypeptide chains. (DO)" [https://www.genome.gov/Genetic-Disorders/Thalassemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/11283697 "DO"] synonym: "hemoglobin J (Baltimore)" RELATED [] synonym: "hemoglobin Karatsu" RELATED [] synonym: "Hemoglobin Lepore (Augusta)" RELATED [] synonym: "Hemoglobin Lepore (Baltimore)" RELATED [] synonym: "Hemoglobin Lepore (Boston)" RELATED [] synonym: "Hemoglobin Lepore (Hollandia)" RELATED [] synonym: "Hemoglobin Lepore (Washington)" RELATED [] synonym: "Hemoglobin Lepore Trait" RELATED [] synonym: "Hemoglobin Pylos" RELATED [] synonym: "hemoglobin Riyadh" RELATED [] synonym: "hemoglobin Tunis-Bizerte" RELATED [] synonym: "sickle-cell thalassemia with crisis" EXACT [] synonym: "sickle-cell thalassemia without crisis" EXACT [] synonym: "thalassemia Hb-S disease with crisis" EXACT [] synonym: "thalassemia Hb-S disease without crisis" EXACT [] synonym: "thalassemias" EXACT [] xref: EFO:1001996 xref: GARD:7756 xref: ICD10CM:D56 xref: ICD9CM:282.4 xref: MESH:D013789 xref: MONDO:0000984 xref: NCI:C35069 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11252 ! microcytic anemia is_a: DOID:2860 ! hemoglobinopathy [Term] id: DOID:10242 name: ehrlichiosis def: "A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. (DO)" [http://en.wikipedia.org/wiki/Ehrlichiosis "DO"] synonym: "Ehrlichioses" EXACT [] synonym: "human ehrlichiosis" EXACT [] xref: GARD:2092 xref: ICD10CM:A77.4 xref: ICD9CM:082.4 xref: MESH:D016873 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9008029 ! Anaplasmataceae Infections [Term] id: DOID:10247 name: pleurisy def: "A pleural disease that is characterized by inflammation of the pleura, the lining of the pleural cavity surrounding the lungs. (DO)" [http://en.wikipedia.org/wiki/Pleurisy "DO", http://www.merck.com/mmhe/sec04/ch052/ch052b.html#sb052_2 "DO"] synonym: "pleurisies" EXACT [] synonym: "pleuritides" EXACT [] synonym: "pleuritis" EXACT [] xref: EFO:1001825 xref: ICD10CM:R09.1 xref: ICD9CM:511.8 xref: MESH:D010998 xref: NCI:C26860 is_a: DOID:1532 ! pleural disease is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:1025 name: tuberculoid leprosy def: "A leprosy that results in one erythematous large plaque with well-defined borders that are elevated and that slope down into an atrophic center. (DO)" [http://en.wikipedia.org/wiki/Tuberculoid_leprosy "DO"] synonym: "macular leprosies" EXACT [] synonym: "Macular Leprosy" EXACT [] synonym: "Neural Leprosies" EXACT [] synonym: "Neural Leprosy" EXACT [] synonym: "smooth leprosy" EXACT [] synonym: "tuberculoid leprosies" EXACT [] synonym: "type T leprosy" EXACT [] xref: EFO:0001056 xref: ICD10CM:A30.1 xref: ICD9CM:030.1 xref: MESH:D015441 is_a: DOID:9001594 ! Paucibacillary Leprosy [Term] id: DOID:10250 name: louping ill def: "A viral infectious disease that results in infection in sheep and rarely humans, has_material_basis_in Louping ill virus, which is transmitted by sheep tick, Ixodes ricinus. The infection has symptom lethargy, has symptom muscle pains, has symptom fever, and has symptom focal neurological signs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15606630 "DO"] xref: EFO:0007348 xref: ICD10CM:A84.89 xref: ICD9CM:063.1 xref: MESH:D008146 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9006097 ! Sheep Diseases [Term] id: DOID:10254 name: strawberry gallbladder synonym: "cholesterolosis of gallbladder" EXACT [] xref: ICD10CM:K82.4 xref: ICD9CM:575.6 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:10261 name: otorrhea def: "An auditory system disease that is characterized by the discharge or drainage of fluid from the ear. (DO)" [https://medlineplus.gov/ency/article/003042.htm "DO"] synonym: "discharging ear" EXACT [] xref: ICD10CM:H92.1 xref: ICD9CM:388.6 xref: NCI:C35199 is_a: DOID:2742 ! auditory system disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10264 name: mumps def: "A viral infectious disease that results in inflammation located in salivary gland, has_material_basis_in Mumps rubulavirus, which is transmitted by droplet spread of saliva or mucus from the mouth, nose, or throat of an infected person, or transmitted by contaminated fomites. The infection has symptom fever, has symptom headache, has symptom muscle aches, has symptom tiredness, has symptom loss of appetite, has symptom swollen and tender salivary glands under the ears or jaw on one or both sides of the face. (DO)" [http://www.cdc.gov/mumps/about/downloads/mumps-factsheet.pdf "DO"] synonym: "epidemic parotitides" EXACT [] synonym: "epidemic parotitis" EXACT [] synonym: "Mumps virus infectious disease" EXACT [] xref: EFO:0007383 xref: GARD:7116 xref: ICD10CM:B26 xref: ICD9CM:072 xref: MESH:D009107 xref: NCI:C29888 is_a: DOID:10301 ! parotitis is_a: DOID:10883 ! herpangina is_a: DOID:9002710 ! Rubulavirus Infections [Term] id: DOID:10266 name: subendocardial infarction acute myocardial infarction xref: ICD9CM:410.7 is_a: DOID:9408 ! acute myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:10272 name: left bundle branch hemiblock synonym: "left bundle branch block" EXACT [] xref: ICD10CM:I44.60 xref: ICD9CM:426.2 xref: RDO:9002668 is_a: DOID:10273 ! heart conduction disease is_a: DOID:9003912 ! Bundle-Branch Block created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:10273 name: heart conduction disease def: "A cardiovascular system disease that involves the heart's electrical conduction system. (DO)" [http://en.wikipedia.org/wiki/Conduction_system_of_the_heart "DO"] synonym: "conduction system disorder" EXACT [] synonym: "heart rhythm disease" EXACT [] xref: EFO:0005137 xref: ICD9CM:426.6 is_a: DOID:114 ! heart disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:10283 name: prostate cancer def: "A male reproductive organ cancer that is located_in the prostate. (DO)" [http://www.cancer.gov/dictionary?CdrID=445079 "DO", https://www.genome.gov/Genetic-Disorders/Prostate-Cancer "DO"] synonym: "cancer of prostate" EXACT [] synonym: "cancer of the prostate" EXACT [] synonym: "CYP3A4 PROMOTER POLYMORPHISM, Cyp3a4-v" RELATED [] synonym: "familial prostate cancer" NARROW [] synonym: "GEN1-RELATED PROSTATE CANCER" NARROW [] synonym: "malignant tumor of prostate" EXACT [] synonym: "malignant tumor of the prostate" EXACT [] synonym: "NGP - new growth of prostate" EXACT [] synonym: "PROSTATE CANCER, PROGRESSION AND METASTASIS OF" NARROW [] synonym: "prostate cancers" EXACT [] synonym: "prostate cancer, susceptibility to" RELATED [] synonym: "prostate cancer, susceptibility to, in African Americans" RELATED [] synonym: "prostatic cancer" EXACT [] synonym: "tumor of the prostate" EXACT [] xref: EFO:0000196 xref: ICD10CM:C61 xref: ICD9CM:185 xref: MIM:176807 xref: MONDO:0008315 xref: NCI:C3343 xref: NCI:C7378 xref: ORDO:1331 is_a: DOID:3856 ! male reproductive organ cancer is_a: DOID:9002304 ! Prostatic Neoplasms created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:10286 name: prostate carcinoma def: "A prostate cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "carcinoma of prostate" EXACT [] synonym: "EFO:0001663" EXACT [] synonym: "metastatic prostate carcinoma" NARROW [] xref: EFO:0001663 xref: NCI:C128122 xref: NCI:C4863 is_a: DOID:10283 ! prostate cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:10287 name: prostate squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the prostate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23877521 "DO"] synonym: "squamous cell carcinoma of prostate" RELATED [] synonym: "squamous cell carcinoma of the prostate" EXACT [NCI2004_11_17:C5536] xref: NCI:C5536 xref: RDO:9001822 is_a: DOID:10286 ! prostate carcinoma is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:10289 name: prostate malignant phyllodes tumor def: "A prostate cancer that is characterized by the presence of glandular elements and a cellular stroma that exhibits mitotic activity and nuclear atypia and that arises from the prostate gland. (DO)" [https://www.hindawi.com/journals/jo/2009/241270/ "DO"] synonym: "malignant phyllodes neoplasm of the prostate" EXACT [] synonym: "malignant phyllodes tumor of prostate" EXACT [] synonym: "phyllodes tumor of the prostate" EXACT [] xref: MESH:C549759 xref: NCI:C5531 is_a: DOID:10283 ! prostate cancer is_a: DOID:9004240 ! Phyllodes Tumor [Term] id: DOID:1029 name: familial periodic paralysis def: "A metal metabolism disorder that is characterized by episodes of muscle paralysis in which the affected muscles become flaccid and the deep tendon reflexes disappear. Between the episodes the affected muscles usually work normally, and that are caused by mutations in genes involved in the sodium and calcium channels in nerve cells. (DO)" [https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/periodic-paralysis.html "DO", https://www.ninds.nih.gov/health-information/disorders/familial-periodic-paralyses "DO"] synonym: "familial periodic paralyses" EXACT [] synonym: "normokalemic periodic paralyses" EXACT [] synonym: "normokalemic periodic paralysis" EXACT [] xref: GARD:6422 xref: MESH:D010245 xref: NCI:C84709 is_a: DOID:0080000 ! muscular disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:10290 name: prostate lymphoma def: "A prostate cancer that affects lymphocytes and arises from the prostate gland. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6614933/ "DO"] synonym: "lymphoma of prostate" EXACT [] synonym: "lymphoma of the prostate" EXACT [] xref: NCI:C5533 is_a: DOID:0060058 ! lymphoma is_a: DOID:10283 ! prostate cancer created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:10293 name: monocular esotropia def: "An esotropia that is characterized by an excessive convergence of the visual axes, resulting in a cross-eye appearance. (DO)" [https://en.wikipedia.org/wiki/Esotropia "DO"] xref: ICD10CM:H50.01 xref: ICD9CM:378.01 is_a: DOID:9840 ! esotropia created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10300 name: Raynaud disease alt_id: MIM:179600 def: "A peripheral vascular disease that is characterized by bilateral Raynaud phenomenon, the abrupt onset of digital paleness or cyanosis in response to cold exposure or stress. (DO)" [https://medlineplus.gov/raynaudsdisease.html "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/raynauds-phenomenon "DO"] synonym: "hereditary cold fingers" EXACT [] synonym: "Raynaud's disease" EXACT [] synonym: "Raynaud's syndrome" EXACT [] synonym: "Raynaud Phenomenon" EXACT [] synonym: "Raynauds disease" EXACT [] xref: EFO:1001145 xref: ICD10CM:I73.0 xref: MESH:D011928 is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:10301 name: parotitis def: "A parotid disease characterized by the inflammation of one or both parotid glands. (DO)" [http://en.wikipedia.org/wiki/Parotitis "DO"] synonym: "parotiditides" EXACT [] synonym: "parotiditis" EXACT [] synonym: "parotitides" EXACT [] xref: EFO:0007423 xref: ICD10CM:K11.2 xref: MESH:D010309 xref: NCI:C114281 is_a: DOID:10302 ! parotid disease is_a: DOID:10303 ! sialadenitis [Term] id: DOID:10302 name: parotid disease def: "A salivary gland disease that is located in the parotid gland. (DO)" [https://www.mayoclinic.org/diseases-conditions/parotid-tumor/cdc-20388269 "DO"] synonym: "parotid diseases" EXACT [] xref: EFO:0007422 xref: MESH:D010305 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:10303 name: sialadenitis def: "A salivary gland disease that is characterized as an infection of the salivary glands. (DO)" [https://rarediseases.info.nih.gov/diseases/7638/sialadenitis "DO"] synonym: "chronic sialadenitides" EXACT [] synonym: "Chronic Sialadenitis" EXACT [] synonym: "irradiation-induced sialadenitides" EXACT [] synonym: "Irradiation Induced Sialadenitis" EXACT [] synonym: "Salivary Gland Adenitides" EXACT [] synonym: "Salivary Gland Adenitis" EXACT [] synonym: "Salivary Gland Inflammation" EXACT [] synonym: "Salivary Gland Inflammations" EXACT [] synonym: "Sialadenitides" EXACT [] synonym: "Sialitides" EXACT [] synonym: "Sialitis" EXACT [] synonym: "sialoadenitides" EXACT [] synonym: "sialoadenitis" EXACT [] xref: EFO:1001179 xref: GARD:7638 xref: ICD10CM:K11.20 xref: ICD9CM:527.2 xref: MESH:D012793 xref: NCI:C115165 xref: NCI:C26882 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:10310 name: viral meningitis def: "A meningitis that has_material_basis_in a viral infection. (DO)" [https://en.wikipedia.org/wiki/Viral_meningitis "DO"] synonym: "viral meningitides" EXACT [] xref: EFO:1001236 xref: ICD10CM:A87 xref: ICD9CM:047.9 xref: MESH:D008587 xref: NCI:C118298 is_a: DOID:9003736 ! Central Nervous System Viral Diseases is_a: DOID:9471 ! meningitis [Term] id: DOID:10314 name: endocarditis def: "A endocardium disease characterized by inflammation of the endocardium of the heart chambers and valves. (DO)" [http://en.wikipedia.org/wiki/Endocarditis "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/endo/ "DO"] synonym: "endocarditides" EXACT [] xref: EFO:0000465 xref: ICD10CM:I33.9 xref: ICD9CM:421.9 xref: MESH:D004696 xref: NCI:C34582 xref: NCI:C35432 is_a: DOID:0050825 ! endocardium disease is_a: DOID:114 ! heart disease [Term] id: DOID:10316 name: pneumoconiosis def: "An interstitial lung disease that is caused by the inhalation of dust. (DO)" [http://en.wikipedia.org/wiki/Pneumoconiosis "DO"] synonym: "pneumoconioses" EXACT [] xref: ICD10CM:J64 xref: ICD9CM:505 xref: MESH:D011009 xref: MONDO:0015926 xref: NCI:C26861 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:9000310 ! Lung Injury is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:10319 name: mixed mineral dust pneumoconiosis def: "A pneumoconiosis caused by the inhalation of mixed mineral dust particles. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC6928373/ "DO"] xref: NCI:C27559 is_a: DOID:10316 ! pneumoconiosis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10320 name: asbestosis def: "A pneumoconiosis caused by inhalation and retention of asbestos fibers. (DO)" [http://en.wikipedia.org/wiki/Asbestosis "DO"] synonym: "Asbestoses" EXACT [] synonym: "Idiopathic Interstitial Pneumonitis - from Asbestos Exposure" EXACT [] synonym: "Pulmonary Fibrosis - from Asbestos Exposure" EXACT [] xref: EFO:0007153 xref: GARD:5852 xref: ICD10CM:J61 xref: ICD9CM:501 xref: MESH:D001195 xref: NCI:C84573 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10321 name: baritosis def: "A pneumoconiosis that is characterized by the formation of fine dense lesions in the lung parenchyma, caused by long standing exposure to barium dust. The lesions do not affect the lung function and disappear without treatment after the exposure to barium dust stops. (DO)" [https://rarediseases.info.nih.gov/diseases/8371/baritosis "DO"] synonym: "deposition of barium in the lungs" EXACT [] synonym: "inhalation of barytes" EXACT [] xref: GARD:8371 xref: MESH:C537080 xref: NCI:C34410 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10322 name: berylliosis def: "A pneumoconiosis that involves allergic response located_in lungs caused by inhalation of beryllium compounds. (DO)" [http://en.wikipedia.org/wiki/Berylliosis "DO"] synonym: "beryllioses" EXACT [] synonym: "beryllium disease" EXACT [] synonym: "beryllium poisoning" EXACT [] xref: EFO:0007168 xref: ICD10CM:J63.2 xref: MESH:D001607 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10323 name: byssinosis def: "A pneumoconiosis that is characterized by hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp, and has symptoms of chest tightness, cough and wheezing. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7767605/ "DO"] synonym: "Brown Lung" EXACT [] synonym: "Brown Lung Disease" EXACT [] synonym: "Brown Lung Diseases" EXACT [] synonym: "Brown Lungs" EXACT [] synonym: "Byssinoses" EXACT [] synonym: "cotton mill fever" EXACT [] synonym: "flax-dressers' disease" EXACT [] synonym: "stripper's asthma" EXACT [] xref: EFO:1000851 xref: GARD:5976 xref: ICD10CM:J66.0 xref: MESH:D002095 xref: NCI:C84605 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10324 name: anthracosilicosis def: "A pneumoconiosis that is characterized by fibrosis of the lung parenchyma caused by inhalation of carbon and silica dust. It manifests as shortness of breath and induces fibrous nodule formation in the lung. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4765255/ "DO"] synonym: "anthracosilicoses" EXACT [] xref: EFO:1000813 xref: ICD10CM:J60 xref: MESH:D000874 xref: NCI:C34389 is_a: DOID:10325 ! silicosis is_a: DOID:10327 ! anthracosis [Term] id: DOID:10325 name: silicosis def: "A pneumoconiosis that is an inflammation and scarring of the upper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles. (DO)" [http://en.wikipedia.org/wiki/Silicosis "DO"] synonym: "pneumoconiosis due to silicates" EXACT [] synonym: "silica pneumoconiosis" EXACT [] synonym: "Silicoses" EXACT [] synonym: "silicotic fibrosis of lung" EXACT [] xref: EFO:0007485 xref: GARD:7647 xref: ICD10CM:J62 xref: ICD10CM:J62.8 xref: ICD9CM:502 xref: MESH:D012829 xref: NCI:C3369 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10326 name: Caplan's syndrome def: "A pneumoconiosis that results_in humans that also have rheumatoid arthritis. (DO)" [http://en.wikipedia.org/wiki/Caplan%27s_syndrome "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000137.htm "DO"] synonym: "Caplan's disease" EXACT [] synonym: "Caplans syndrome" EXACT [] synonym: "Caplan syndrome" EXACT [] synonym: "Caplan syndromes" EXACT [] synonym: "rheumatoid pneumoconiosis" EXACT [] xref: EFO:0007192 xref: MESH:D002205 is_a: DOID:10316 ! pneumoconiosis is_a: DOID:225 ! syndrome is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:10327 name: anthracosis def: "A pneumoconiosis that is characterized by deposition of carbon or coal dust in the lung parenchyma leading to the formation of black nodules and emphysema. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386010/ "DO"] synonym: "anthracoses" EXACT [] synonym: "Black Lung" EXACT [] synonym: "Black Lung Disease" EXACT [] synonym: "black lung diseases" EXACT [] synonym: "Black Lungs" EXACT [] synonym: "Coal Miner's Lung" EXACT [] synonym: "Coal Miner's Lungs" EXACT [] synonym: "coal miner's pneumoconiosis" EXACT [] synonym: "Coal Miner Lung" EXACT [] synonym: "Coal Miners Lung" EXACT [] synonym: "Coal Worker's Pneumoconioses" EXACT [] synonym: "Coalworker's Pneumoconioses" EXACT [] synonym: "Coal Worker's Pneumoconiosis" EXACT [] synonym: "coalworker's pneumoconiosis" EXACT [] synonym: "Coal Worker Pneumoconiosis" EXACT [] synonym: "Coalworker Pneumoconiosis" EXACT [] synonym: "coal workers' lung" EXACT [] synonym: "Coal Workers Pneumoconiosis" EXACT [] synonym: "coalworkers pneumoconiosis" EXACT [] synonym: "melanoedema" EXACT [] xref: EFO:1000814 xref: ICD9CM:500 xref: MESH:D055008 xref: NCI:C34390 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10328 name: siderosis def: "A pneumoconiosis that is characterized by the deposition of excess iron in body tissue resulting from inhalation of iron in the mining dust or welding fumes. (DO)" [https://en.wikipedia.org/wiki/Siderosis "DO"] synonym: "pulmonary siderosis" EXACT [] synonym: "sideroses" EXACT [] xref: GARD:7645 xref: ICD10CM:J63.4 xref: MESH:D012806 is_a: DOID:10316 ! pneumoconiosis [Term] id: DOID:10329 name: pulmonary talcosis def: "A pneumoconiosis that is characterized by fibrosis and granulomatous changes in the lung parenchyma and resulting from exposure to talc. (DO)" [https://diagnosticpathology.biomedcentral.com/articles/10.1186/1746-1596-7-26 "DO", https://pubmed.ncbi.nlm.nih.gov/34390717/ "DO", https://pubmed.ncbi.nlm.nih.gov/34401315/ "DO", https://radiopaedia.org/articles/talcosis-1 "DO"] synonym: "pneumoconiosis due to talc" EXACT [] synonym: "talcosis" EXACT [] synonym: "talc pneumoconiosis" EXACT [] xref: ICD10CM:J62.0 xref: NCI:C27026 is_a: DOID:10316 ! pneumoconiosis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10330 name: slate pneumoconiosis def: "A pneumoconiosis that is caused by exposure to slate dust. (DO)" [https://academic.oup.com/occmed/article/67/1/20/2420658 "DO", https://pubmed.ncbi.nlm.nih.gov/7426466/ "DO"] synonym: "schistosis" EXACT [] xref: MONDO:0001004 xref: NCI:C35397 is_a: DOID:10316 ! pneumoconiosis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10331 name: kaolin pneumoconiosis def: "A pneumoconiosis that is caused by inhalation of kaolin dust. (DO)" [https://www.amjmed.com/article/S0002-9343%2820%2930716-6/fulltext "DO"] synonym: "kaolinosis" EXACT [] xref: GARD:8355 xref: NCI:C35315 is_a: DOID:10316 ! pneumoconiosis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:10337 name: glaucomatous atrophy of optic disc def: "An optic atrophy that is characterized by optic nerve damage with increased optic cup to disc ratio secondary to glaucoma, which is an eye disease related to abnormal aqueous fluid outflow that inappropriately raises intraocular pressure and results in optic nerve atrophy with progressive visual field loss. Glaucomatous atrophy of optic disc can be caused by any form of glaucoma. (DO)" [https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3083760/ "DO"] synonym: "glaucomatous atrophy [cupping] of optic disc" EXACT [] xref: ICD10CM:H47.23 xref: ICD9CM:377.14 is_a: DOID:1279 ! ocular motility disease is_a: DOID:1686 ! glaucoma is_a: DOID:5723 ! optic atrophy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10341 name: chronic meningitis xref: ICD10CM:G03.1 xref: ICD9CM:322.2 is_a: DOID:9471 ! meningitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10348 name: blepharophimosis def: "An eyelid disease that is characterized by abnormal narrowness of the palpebral fissure in the horizontal direction caused by the lateral displacement of the medial canthi of the eyelids. (DO)" [https://en.wikipedia.org/wiki/Blepharophimosis "DO"] synonym: "blepharophimoses" EXACT [] xref: GARD:5932 xref: ICD10CM:H02.52 xref: ICD9CM:374.46 xref: MESH:D016569 is_a: DOID:0080015 ! physical disorder is_a: DOID:530 ! eyelid disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:10349 name: solitary cyst of breast def: "A breast cyst that is characterized by single, fluid-filled cyst in the breast parenchyma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14223874 "DO"] synonym: "solitary cyst of the breast" EXACT [] xref: ICD10CM:N60.0 xref: ICD10CM:N60.09 xref: ICD9CM:610.0 xref: NCI:C3378 is_a: DOID:10350 ! breast cyst [Term] id: DOID:1035 name: aggressive NK-cell leukemia def: "A leukemia that is characterized by the systemic proliferation of NK cells closely associated with Epstein-Barr virus and that is located_in the peripheral blood, bone marrow, liver, and spleen. (DO)" [https://en.wikipedia.org/wiki/Aggressive_NK-cell_leukemia "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C8647 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6191480/ "DO"] synonym: "aggressive NK-cell leukaemia" EXACT [] synonym: "large granular lymphocyte leukemia, NK-cell type" EXACT [] synonym: "natural killer cell leukaemia" EXACT [] synonym: "natural killer cell leukemia" EXACT [] xref: ICD10CM:C94.8 xref: ICDO:9948/3 xref: NCI:C8647 is_a: DOID:0050687 ! cell type cancer is_a: DOID:1037 ! lymphoid leukemia is_a: DOID:9500 ! leukocyte disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10350 name: breast cyst def: "A breast benign neoplasm that is characterized by a fluid-filled sac. (DO)" [https://en.wikipedia.org/wiki/Breast_cyst "DO"] synonym: "breast cysts" EXACT [] synonym: "cyst of the breast" EXACT [] xref: EFO:1000848 xref: MESH:D047688 xref: NCI:C5315 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:9007583 ! Cysts [Term] id: DOID:10352 name: breast fibroadenosis def: "A breast benign neoplasm that has_material_basis_in fibrous tissue and epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [https://en.wikipedia.org/wiki/Fibrosis "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2429655/?page=1 "DO"] synonym: "fibroadenosis of breast" EXACT [] xref: ICD10CM:N60.2 xref: ICD9CM:610.2 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:10353 name: fibrosclerosis of breast def: "A non-proliferative fibrocystic change of the breast that contains scar tissue. (DO)" [https://en.wikipedia.org/wiki/Fibrosclerosis_of_breast "DO"] synonym: "breast fibrosis" EXACT [] synonym: "EFO:1000145" EXACT [] synonym: "fibrosis of the breast" EXACT [] xref: EFO:1000145 xref: ICD10CM:N60.3 xref: ICD9CM:610.3 xref: MONDO:0006118 xref: NCI:C3660 is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast [Term] id: DOID:10354 name: breast fibrocystic disease def: "A breast benign neoplasm that has_material_basis_in fibrous tissue and is characterized by the development of cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3511705 "DO"] synonym: "benign breast disease" EXACT [] synonym: "Breast Cystic Disease" EXACT [] synonym: "Breast Cystic Diseases" EXACT [] synonym: "Breast Dysplasia" EXACT [] synonym: "Breast Fibrocystic Change" EXACT [] synonym: "Breast Fibrocystic Changes" EXACT [] synonym: "Chronic Cystic Mastitis" EXACT [] synonym: "Cystic Disease of Breast" EXACT [] synonym: "Diffuse cystic mastopathy" EXACT [] synonym: "EFO:0003014" EXACT [] synonym: "Fibrocystic Changes of Breast" EXACT [] synonym: "Fibrocystic Disease of Breast" EXACT [] synonym: "fibrocystic mastopathy" EXACT [] synonym: "mammary dysplasia" EXACT [] xref: EFO:0003014 xref: ICD10CM:N60.1 xref: ICD9CM:610.1 xref: MESH:D005348 xref: NCI:C3039 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1036 name: chronic leukemia def: "A leukemia that develops slowly. (DO)" [http://www.nlm.nih.gov/medlineplus/leukemiaadultchronic.html "DO"] synonym: "adult chronic leukemia" RELATED [] xref: NCI:C3483 is_a: DOID:1240 ! leukemia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:10361 name: eosinophilic meningitis def: "A chronic meningitis that is characterized by the presence of 10 or more eosinophils/microL in the cerebrospinal fluid (CSF) or a CSF eosinophilia of at least 10 percent. Symptoms of this condition range from mild headache to severe, throbbing headache, dizziness, nausea, vomiting, fever, neck stiffness, paresthesia, and stabbing pain in the trunk and limbs aggravated by touch. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31972289/ "DO"] xref: ICD9CM:322.1 xref: NCI:C128374 is_a: DOID:10341 ! chronic meningitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10366 name: epididymis cancer def: "A male reproductive organ cancer that is located in the epididymis. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC3720153/ "DO"] synonym: "malignant epididymal tumor" EXACT [] synonym: "malignant neoplasm of epididymis" EXACT [] synonym: "malignant tumor of epididymis" EXACT [] xref: ICD10CM:C63.0 xref: ICD9CM:187.5 xref: NCI:C3558 is_a: DOID:0080373 ! epididymis disease is_a: DOID:3856 ! male reproductive organ cancer created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10368 name: epididymis adenocarcinoma def: "An epididymis cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of the epididymis" EXACT [] xref: NCI:C39957 is_a: DOID:10366 ! epididymis cancer is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:1037 name: lymphoid leukemia alt_id: DOID:10747 def: "A leukemia that has_material_basis_in a B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. (DO)" [http://www.cancer.gov/dictionary?CdrID=616067 "DO"] synonym: "EFO:0000220" EXACT [] synonym: "lymphoblastic leukaemia" EXACT [] synonym: "lymphocytic leukaemia" EXACT [] synonym: "lymphocytic leukemia" EXACT [] synonym: "lymphocytic leukemias" EXACT [] synonym: "lymphoid leukemias" EXACT [] xref: EFO:0000220 xref: EFO:0004289 xref: ICD10CM:C91 xref: ICD9CM:204 xref: ICDO:9820/3 xref: MESH:D007945 xref: NCI:C7539 is_a: DOID:0060058 ! lymphoma is_a: DOID:1240 ! leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10371 name: yaws def: "A primary bacterial infectious disease that results in infection located in skin, located in joint or located in bone, has_material_basis_in Treponema pallidum subsp pertenue, which is transmitted by direct skin contact with an infected person. The infection has symptom skin lesions. (DO)" [http://en.wikipedia.org/wiki/Yaws "DO", http://www.who.int/mediacentre/factsheets/fs316/en/ "DO"] synonym: "bouba" EXACT [] synonym: "frambesia" EXACT [] synonym: "frambesias" EXACT [] synonym: "frambesia tropica" EXACT [] synonym: "frambesia tropicas" EXACT [] synonym: "frambosie" EXACT [] synonym: "polypapilloma tropicum" EXACT [] synonym: "thymosis" EXACT [] xref: EFO:0007548 xref: GARD:7913 xref: ICD10CM:A66 xref: ICD9CM:102 xref: MESH:D015001 xref: NCI:C41353 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:0080001 ! bone disease is_a: DOID:9000746 ! Treponemal Infections is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:10375 name: strabismic amblyopia def: "An amblyopia that is characterized by strabismus or eye misalignment. The brain begins to ignore the eye that is not straight and the vision subsequently drops in that eye. (DO)" [https://aapos.org/glossary/amblyopia "DO", https://pubmed.ncbi.nlm.nih.gov/25051925/ "DO"] synonym: "suppression amblyopia" EXACT [] synonym: "suppression amblyopias" EXACT [] xref: ICD10CM:H53.03 xref: ICD9CM:368.01 is_a: DOID:10376 ! amblyopia created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:10376 name: amblyopia def: "An eye disease that is characterized by poor vision in one eye resulting from the brain failing to process inputs from one eye and over time favors the other eye. The weaker or lazy eye often wanders inward or outward. (DO)" [https://en.wikipedia.org/wiki/Amblyopia "DO", https://www.nei.nih.gov/learn-about-eye-health/eye-conditions-and-diseases/amblyopia-lazy-eye "DO"] synonym: "amblyopias" EXACT [] synonym: "Anisometropic Amblyopia" EXACT [] synonym: "anisometropic amblyopias" EXACT [] synonym: "Developmental Amblyopia" EXACT [] synonym: "Developmental Amblyopias" EXACT [] synonym: "lazy eye" EXACT [] synonym: "lazy eyes" EXACT [] xref: ICD10CM:H53.00 xref: ICD9CM:368.00 xref: MESH:D000550 xref: MONDO:0001020 xref: NCI:C118764 is_a: DOID:5614 ! eye disease is_a: DOID:9000343 ! Vision Disorders is_a: DOID:936 ! brain disease [Term] id: DOID:10377 name: refractive amblyopia def: "An amblyopia that is characterized by refractive error in one or both eyes that is not corrected early in childhood resulting in poor development of the visual function in the affected eye(s). (DO)" [https://aapos.org/glossary/amblyopia "DO"] synonym: "ametropic amblyopia" EXACT [] xref: ICD10CM:H53.02 xref: ICD9CM:368.03 is_a: DOID:10376 ! amblyopia created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:10378 name: deprivation amblyopia def: "An amblyopia that is characterized by a structural anomaly that impairs vision like a droopy eyelid or an opacity in the eye, such as a cataract or corneal scar. (DO)" [https://aapos.org/glossary/amblyopia "DO"] synonym: "disuse amblyopia" EXACT [] synonym: "pattern-deprivation amblyopia" EXACT [] synonym: "stimulus deprivation-induced amblyopia" EXACT [] synonym: "stimulus deprivation-induced amblyopias" EXACT [] xref: ICD10CM:H53.01 xref: ICD9CM:368.02 is_a: DOID:10376 ! amblyopia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10383 name: amyotrophic neuralgia def: "A brachial plexus neuropathy that is characterized by acute, recurrent episodes of brachial plexus neuropathy with muscle weakness and atrophy preceded by severe pain in the affected arm, and that has_material_basis_in heterozygous mutation in the SEPT9 gene on chromosome 17q25. (DO)" [https://medlineplus.gov/genetics/condition/hereditary-neuralgic-amyotrophy/ "DO"] synonym: "amyotrophic neuralgias" EXACT [] synonym: "hereditary neuralgic amyotrophies" EXACT [] synonym: "hereditary neuralgic amyotrophy" EXACT [] synonym: "hereditary neuralgic amyotrophy (HNA)" EXACT [] synonym: "neuralgic amyotrophies" EXACT [] synonym: "neuralgic amyotrophy" EXACT [] xref: ICD9CM:353.5 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:3690 ! brachial plexus neuropathy is_a: DOID:9005968 ! Neuralgia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1039 name: prolymphocytic leukemia def: "A chronic lymphocytic leukemia that is characterized by the presence of medium-sized lymphocytes with visible nucleoli (prolymphocytes) in the peripheral blood, bone marrow, and spleen. (DO)" [https://cancer.ca/en/cancer-information/cancer-types/non-hodgkin-lymphoma/what-is-non-hodgkin-lymphoma/prolymphocytic-leukemias "DO"] synonym: "PLL" EXACT [] synonym: "Prolymphocytic leukaemia" EXACT [] synonym: "prolymphocytic leukemias" EXACT [] xref: ICDO:9832/3 xref: MESH:D015463 xref: NCI:C3181 is_a: DOID:1037 ! lymphoid leukemia is_a: DOID:1040 ! chronic lymphocytic leukemia [Term] id: DOID:10393 name: secondary hypertrophic osteoarthropathy def: "Symmetrical osteitis of the four limbs, chiefly localized to the phalanges and the terminal epiphyses of the long bones of the forearm and leg, sometimes extending to the proximal ends of the limbs and the flat bones, and accompanied by dorsal kyphosis and joint involvement. It is often secondary to chronic conditions of the lungs and heart. (Dorland, 27th ed)" [MESH:D010005] synonym: "Clubbed Finger" EXACT [] synonym: "Clubbed Fingers" EXACT [] synonym: "HPOA - hypertrophic pulmonary osteoarthropathy" EXACT [SNOMEDCT_2005_07_31:203357004] synonym: "hypertrophic pulmonary osteoarthropathy" EXACT [] synonym: "Marie Bamberger Disease" EXACT [] synonym: "Secondary Hypertrophic Osteoarthropathies" EXACT [] xref: EFO:1001174 xref: ICD9CM:731.2 xref: MESH:D010005 xref: RDO:0006249 is_a: DOID:3342 ! bone inflammation disease is_a: DOID:381 ! arthropathy [Term] id: DOID:10398 name: pneumonic plague def: "A plague that results_in infection located_in lung, which results from direct inhalation of the bacillus and has_symptom fever, has_symptom chills, has_symptom cough and has_symptom difficulty breathing. (DO)" [https://en.wikipedia.org/wiki/Pneumonic_plague "DO"] synonym: "pneumonic plagues" EXACT [] synonym: "primary pneumonic plague" EXACT [] synonym: "secondary pneumonic plague" EXACT [] xref: ICD10CM:A20.2 xref: ICD9CM:020.3 xref: ICD9CM:020.4 xref: ICD9CM:020.5 is_a: DOID:3482 ! plague is_a: DOID:850 ! lung disease created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10399 name: seminal vesicle chronic gonorrhea synonym: "Gonococcal seminal vesiculitis, chronic" EXACT [ICD9CM_2006:098.34] xref: ICD9CM:098.34 xref: RDO:9004910 is_a: DOID:10400 ! gonococcal seminal vesiculitis created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:104 name: bacterial infectious disease def: "A disease by infectious agent that results_in infection, has_material_basis_in Bacteria. (DO)" [http://en.wikipedia.org/wiki/Pathogenic_bacteria "DO"] synonym: "bacterial infection" EXACT [] synonym: "bacterial infections" EXACT [] xref: EFO:0000771 xref: ICD10CM:A49.9 xref: MESH:D001424 xref: NCI:C2890 is_a: DOID:9004384 ! Bacterial Infections and Mycoses [Term] id: DOID:1040 name: chronic lymphocytic leukemia def: "A lymphocytic leukemia characterized by over production of B-cells and their accumulation in bone marrow and blood. (DO)" [http://en.wikipedia.org/wiki/B-cell_chronic_lymphocytic_leukemia "DO", http://www.cancer.gov/dictionary?cdrid=346545 "DO"] synonym: "B-cell chronic lymphocytic leukaemia" EXACT [] synonym: "B-cell chronic lymphoid leukemia" RELATED [] synonym: "chronic lymphatic leukaemia" EXACT [] synonym: "chronic lymphatic leukemia" EXACT [] synonym: "chronic lymphocytic leukaemia" EXACT [] synonym: "chronic lymphoid leukemia" EXACT [] synonym: "CLL" EXACT [] synonym: "EFO:0000095" EXACT [] synonym: "lymphoplasmacytic leukaemia" EXACT [] synonym: "lymphoplasmacytic leukemia" EXACT [] xref: EFO:0000095 xref: EFO:0000169 xref: GARD:6104 xref: ICD10CM:C91.10 xref: ICD9CM:204.1 xref: NCI:C3163 xref: ORDO:67038 is_a: DOID:0060058 ! lymphoma is_a: DOID:1037 ! lymphoid leukemia created_by: rgd creation_date: 2016-07-12T00:00:00Z [Term] id: DOID:10400 name: gonococcal seminal vesiculitis synonym: "gonorrhea of seminal vesicle" EXACT [] is_a: DOID:7551 ! gonorrhea is_a: DOID:9365 ! vesiculitis created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:10423 name: acute pericementitis synonym: "acute periodontitis" EXACT [] xref: ICD9CM:523.33 xref: NCI:C34354 is_a: DOID:824 ! periodontitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:10426 name: Klippel-Feil syndrome alt_id: MESH:C536887 alt_id: MESH:C536888 def: "A physical disorder that is characterized by abnormal segmentation of the vertebra during fetal development which results in fusion located in cervical vertebra. (DO)" [http://en.wikipedia.org/wiki/Klippel%E2%80%93Feil_syndrome "DO", http://www.ninds.nih.gov/disorders/klippel_feil/klippel_feil.htm "DO", http://www.wheelessonline.com/ortho/klippel_feil_syndrome "DO"] synonym: "autosomal dominant Klippel-Feil syndrome" EXACT [] synonym: "autosomal recessive Klippel-Feil syndrome" EXACT [] synonym: "cervical fusion syndrome" EXACT [] synonym: "cervical vertebral fusion, autosomal dominant" EXACT [] synonym: "Cervical vertebral fusion, autosomal recessive" EXACT [] synonym: "congenital dystrophia brevicollis" EXACT [] synonym: "congenital synostosis of cervical vertebrae" EXACT [] synonym: "Dystrophia Brevicollis Congenita" EXACT [] synonym: "KFS" EXACT [] synonym: "Kfs, Autosomal Recessive" EXACT [] synonym: "Klippel-Feil and Turner syndrome" EXACT [] synonym: "Klippel-Feil deformity, deafness and facial asymmetry" EXACT [] synonym: "Klippel-Feil sequence" EXACT [] synonym: "vertebral cervical fusion syndrome" EXACT [] xref: GARD:10280 xref: ICD10CM:Q76.1 xref: ICD9CM:756.16 xref: MESH:D007714 xref: MIM:PS118100 xref: NCI:C98967 xref: ORDO:2345 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080015 ! physical disorder is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:10428 name: stable condition keratoconus xref: ICD10CM:H18.61 xref: ICD9CM:371.61 xref: RDO:9004354 is_a: DOID:10126 ! keratoconus created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10435 name: purulent acute otitis media def: "A suppurative otitis media with sudden onset and a short course. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false "DO"] xref: ICD9CM:382.02 is_a: DOID:11506 ! suppurative otitis media created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10439 name: Mooren's ulcer def: "A corneal ulcer that is characterized by painful peripheral corneal ulceration, sterile limbal inflammation, and episcleral and conjunctival edema. (DO)" [https://eyewiki.aao.org/Mooren%27s_Ulcer "DO"] synonym: "Mooren ulcer" EXACT [] xref: ICD10CM:H16.05 xref: ICD9CM:370.07 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10440 name: mycotic corneal ulcer def: "A corneal ulcer that is characterized by ulceration of the cornea secondary to fungal infection and is caused by minor trauma and subsequent infection by mycotic organisms, such as candida, aspergillus, fusarium, and rhizopus. (DO)" [https://eyewiki.aao.org/Fungal_Keratitis "DO"] xref: ICD10CM:H16.06 xref: ICD9CM:370.05 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10441 name: marginal corneal ulcer def: "A corneal ulcer that is characterized by infiltrate formation in the marginal zone that is parallel but separated from the limbus. (DO)" [https://www.reviewofoptometry.com/article/is-it-an-ulcer-or-an-infiltrate "DO"] xref: ICD10CM:H16.04 xref: ICD9CM:370.01 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10442 name: hypopyon ulcer xref: ICD10CM:H16.03 xref: ICD9CM:370.04 xref: RDO:9003091 is_a: DOID:10443 ! hypopyon created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10443 name: hypopyon xref: ICD10CM:H20.05 xref: ICD9CM:364.05 xref: NCI:C50593 xref: RDO:9003090 is_a: DOID:9383 ! iridocyclitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10444 name: ring corneal ulcer def: "A corneal ulcer that is characterized by a ring of infiltration and/or ulceration that forms on the cornea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16693254 "DO"] xref: ICD10CM:H16.02 xref: ICD9CM:370.02 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10445 name: perforated corneal ulcer def: "A corneal ulcer that has progressed and thinned the cornea such that the cornea ruptures, leaving a small hole that may drain or appear to contain pigment. (DO)" [https://www.aao.org/eyenet/article/corneal-perforations "DO"] xref: ICD10CM:H16.07 xref: ICD9CM:370.06 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10456 name: tonsillitis def: "An upper respiratory tract disease which is characterized by inflammation of the tonsils resulting from bacterial (Group A streptococcus) and viral (Epstein-Barr virus, adenovirus) infections. Symptoms include a severe sore throat, painful or difficult swallowing, coughing, headache, myalgia, fever and chills. (DO)" [http://en.wikipedia.org/wiki/Tonsillitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tonsillitis "DO"] synonym: "chronic tonsillitis" EXACT [] synonym: "throat infection - tonsillitis" EXACT [] synonym: "Tonsillitides" EXACT [] xref: ICD10CM:J35.01 xref: ICD9CM:474.00 xref: MESH:D014069 xref: NCI:C116006 is_a: DOID:2275 ! pharyngitis is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:10457 name: Legionnaires' disease alt_id: MIM:608556 def: "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough. (DO)" [http://en.wikipedia.org/wiki/Legionellosis "DO"] synonym: "infection by Legionella pneumophilia" EXACT [] synonym: "legionella" EXACT [] synonym: "legionella pneumonia" EXACT [] synonym: "Legionella pneumophila Infection" EXACT [] synonym: "Legionella pneumophila Infections" EXACT [] synonym: "Legionnaire's Disease" EXACT [] synonym: "Legionnaire Disease" EXACT [] synonym: "Legionnaire disease, susceptibility to" RELATED [] xref: EFO:0007343 xref: ICD10CM:A48.1 xref: ICD9CM:482.84 xref: MESH:D007877 xref: MONDO:0005824 xref: NCI:C128339 is_a: DOID:10458 ! legionellosis is_a: DOID:874 ! bacterial pneumonia [Term] id: DOID:10458 name: legionellosis def: "A primary bacterial infectious disease that results_in infection located_in respiratory tract, has_material_basis_in Legionella pneumophila, which is transmitted_by inhalation of droplets containing bacteria. The symptoms include dry cough, fever, headache and diarrhea. (DO)" [http://en.wikipedia.org/wiki/Legionellosis "DO", http://www.cdc.gov/mmwr/preview/mmwrhtml/mm4934a1.htm "DO"] synonym: "legionella infection" EXACT [] synonym: "legionelloses" EXACT [] xref: EFO:0007342 xref: MESH:D007876 xref: NCI:C128334 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008680 ! Respiratory Tract Infections is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:10459 name: common cold def: "An upper respiratory tract disease which involves inflammation of the mucous membranes of the nose, throat, eyes, and eustachian tubes with watery then purulent discharge. This is an acute contagious disease caused by rhinoviruses, human parainfluenza viruses, human respiratory syncytial virus, influenza viruses, adenoviruses, enteroviruses, or metapneumovirus. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=common%20cold "DO", https://medlineplus.gov/commoncold.html "DO"] synonym: "acute coryza" EXACT [] synonym: "acute nasopharyngitis" EXACT [] synonym: "acute rhinitis" EXACT [] synonym: "Acute viral rhinopharyngitis" EXACT [] synonym: "Catarrh" EXACT [] synonym: "Catarrhs" EXACT [] synonym: "Common Colds" EXACT [] synonym: "rhino-sinusitis" EXACT [] synonym: "Rhinovirus Infection" RELATED [] xref: EFO:0007214 xref: ICD9CM:460 xref: MESH:D003139 xref: MONDO:0005709 xref: NCI:C34500 xref: NCI:C78599 is_a: DOID:9003470 ! Picornaviridae Infections is_a: DOID:9008680 ! Respiratory Tract Infections is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:10460 name: nasopharyngitis def: "A nasopharyngeal disease which involves inflammation of the nasal passages and upper part of the pharynx. (DO)" [http://medical-dictionary.thefreedictionary.com/nasopharyngitis "DO", http://www.merriam-webster.com/medical/nasopharyngitis "DO"] synonym: "chronic nasopharyngitis" EXACT [] synonym: "nasopharyngitides" EXACT [] xref: ICD10CM:J00 xref: ICD10CM:J31.1 xref: ICD9CM:472.2 xref: MESH:D009304 xref: NCI:C34837 is_a: DOID:2275 ! pharyngitis is_a: DOID:9561 ! nasopharyngeal disease [Term] id: DOID:10461 name: dentin caries synonym: "compound dental caries" EXACT [] synonym: "dental caries extending into dentine" EXACT [] xref: ICD10CM:K02 xref: ICD9CM:521.02 is_a: DOID:216 ! dental caries created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10471 name: patellar tendinitis synonym: "patellar tendonitis" EXACT [] xref: ICD10CM:M76.5 xref: ICD10CM:M76.50 xref: ICD9CM:726.64 xref: RDO:9003129 is_a: DOID:971 ! tendinitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10480 name: diaphragmatic eventration def: "A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG." [MESH:D003965] synonym: "Diaphragm Eventration" EXACT [] synonym: "Eventration of Diaphragm" EXACT [] xref: EFO:1000898 xref: ICD10CM:Q79.1 xref: MESH:D003965 xref: NCI:C98912 is_a: DOID:10481 ! diaphragm disease is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:10481 name: diaphragm disease def: "A muscular disease that is located_in the diaphragm. (DO)" [http://www.bmc.org/thoracicsurgery/diseasesandconditions-diaphragm.htm "DO"] xref: EFO:0007233 xref: ICD10CM:J98.6 xref: ICD9CM:519.4 is_a: DOID:0080000 ! muscular disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10485 name: esophageal atresia def: "Congenital abnormality characterized by the lack of full development of the ESOPHAGUS that commonly occurs with TRACHEOESOPHAGEAL FISTULA. Symptoms include excessive SALIVATION; GAGGING; CYANOSIS; and DYSPNEA." [MESH:D004933] synonym: "congenital atresia of esophagus" EXACT [] synonym: "congenital imperforate esophagus" EXACT [] synonym: "Esophageal Atresias" EXACT [] synonym: "imperforate esophagus" EXACT [] synonym: "oesophageal atresia" EXACT [] xref: GARD:6381 xref: ICD10CM:Q39.0 xref: MESH:D004933 xref: NCI:C87072 is_a: DOID:6050 ! esophageal disease is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:10486 name: intestinal atresia alt_id: MIM:243600 def: "Congenital obliteration of the lumen of the intestine, with the ILEUM involved in 50% of the cases and the JEJUNUM and DUODENUM following in frequency. It is the most frequent cause of INTESTINAL OBSTRUCTION in NEWBORNS. (From Stedman, 25th ed)" [MESH:D007409] synonym: "Apple Peel Intestinal Atresia" EXACT [] synonym: "Apple-Peel Intestinal Atresias" EXACT [] synonym: "Apple Peel Small Bowel Syndrome" EXACT [] synonym: "Apple Peel Syndrome" EXACT [] synonym: "Apple Peel Syndromes" EXACT [] synonym: "Congenital Intestinal Atresia" EXACT [] synonym: "Congenital Intestinal Atresias" EXACT [] synonym: "Familial Apple Peel Jejunal Atresia" EXACT [] synonym: "Jejunal Atresia" EXACT [] xref: ICD10CM:Q41.1 xref: MESH:D007409 xref: NCI:C84790 is_a: DOID:5295 ! intestinal disease is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:10487 name: Hirschsprung's disease alt_id: MIM:142623 alt_id: MIM:600155 alt_id: MIM:600156 alt_id: MIM:606874 alt_id: MIM:606875 alt_id: MIM:608462 alt_id: MIM:611644 alt_id: MIM:613711 alt_id: MIM:613712 def: "A megacolon that is characterized by a blockage of the large intestine due to improper muscle movement in the bowel. (DO)" [http://en.wikipedia.org/wiki/Hirschsprung%27s_disease "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001140.htm "DO", http://www.uptodate.com/contents/congenital-aganglionic-megacolon-hirschsprung-disease "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/hirschsprung-disease "DO"] synonym: "aganglionic megacolon" EXACT [] synonym: "colonic aganglionosis" EXACT [] synonym: "congenital intestinal aganglionosis" EXACT [] synonym: "congenital megacolon" EXACT [] synonym: "CSMD3-ASSOCIATED HIRSCHSPRUNG DISEASE" NARROW [] synonym: "Hirschsprung disease" EXACT [] synonym: "Hirschsprung disease, dominant" NARROW [] synonym: "Hirschsprung disease, protection against" RELATED [] synonym: "Hirschsprung disease, recessive" NARROW [] synonym: "Hirschsprung Disease, Susceptibility to, 1" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 2" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 3" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 4" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 5" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 6" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 7" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 8" RELATED [] synonym: "Hirschsprung Disease, Susceptibility to, 9" RELATED [] synonym: "Hirschsprungs disease" EXACT [] synonym: "HSCR" EXACT [] synonym: "HSCR1" EXACT [] synonym: "HSCR2" EXACT [] synonym: "HSCR3" EXACT [] synonym: "HSCR4" EXACT [] synonym: "HSCR5" EXACT [] synonym: "HSCR6" EXACT [] synonym: "HSCR7" EXACT [] synonym: "HSCR8" EXACT [] synonym: "HSCR9" EXACT [] synonym: "macrocolon" EXACT [] synonym: "MGC" EXACT [] synonym: "pelvirectal achalasia" EXACT [] synonym: "rectosigmoid aganglionosis" EXACT [] synonym: "rectosigmoid colon aganglionosis" EXACT [] synonym: "total colonic aganglionosis" EXACT [] xref: EFO:0004241 xref: GARD:6660 xref: ICD10CM:Q43.1 xref: MESH:D006627 xref: MIM:PS142623 xref: MONDO:0018309 xref: NCI:C34700 xref: ORDO:388 is_a: DOID:11372 ! megacolon is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:10488 name: imperforate anus alt_id: MIM:207500 alt_id: MIM:301800 def: "A congenital abnormality characterized by the persistence of the anal membrane, resulting in a thin membrane covering the normal ANAL CANAL. Imperforation is not always complete and is treated by surgery in infancy. This defect is often associated with NEURAL TUBE DEFECTS; MENTAL RETARDATION; and DOWN SYNDROME." [MESH:D001006] synonym: "anal atresia" EXACT [] synonym: "anal atresias" EXACT [] synonym: "congenital atresia of anus" EXACT [] synonym: "congenital or infantile occlusion of anus" EXACT [] xref: GARD:6769 xref: ICD10CM:Q42.3 xref: MESH:D001006 xref: NCI:C84784 is_a: DOID:0080015 ! physical disorder is_a: DOID:3128 ! anus disease is_a: DOID:9001471 ! Anorectal Malformations [Term] id: DOID:10493 name: adrenal cortical hypofunction alt_id: DOID:9008329 synonym: "Adrenal Cortical Insufficiency" EXACT [NCI2004_11_17:C27150] synonym: "Adrenocortical Insufficiency" EXACT [] synonym: "Corticoadrenal insufficiency" EXACT [SNOMEDCT_2005_07_31:267483004] xref: EFO:0009491 xref: ICD9CM:255.4 xref: MIM:184757 xref: NCI:C26691 xref: RDO:9000796 xref: RDO:9004277 is_a: DOID:3952 ! adrenal cortex disease is_a: DOID:9008622 ! Adrenal Insufficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:10499 name: orbital granuloma xref: ICD10CM:H05.11 xref: ICD9CM:376.11 xref: NCI:C3653 xref: RDO:9003003 is_a: DOID:1397 ! chronic orbital inflammation created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10507 name: Dressler's syndrome def: "A pericarditis characterized by inflammation, occurring after injury, located_in pericardium. (DO)" [http://en.wikipedia.org/wiki/Dressler%27s_syndrome "DO", http://www.mayoclinic.org/diseases-conditions/dresslers-syndrome/basics/definition/con-20026307 "DO"] synonym: "Donath-Landsteiner hemolytic anemia" EXACT [] synonym: "Donath-Landsteiner syndrome" EXACT [] synonym: "Dressler syndrome" EXACT [] synonym: "Harley syndrome" EXACT [] synonym: "immune hemolytic anemia, paroxysmal cold" EXACT [] synonym: "postmyocardial infarction syndrome" EXACT [] xref: ICD10CM:I24.1 xref: ICD9CM:411.0 xref: MESH:C538618 is_a: DOID:1787 ! pericarditis is_a: DOID:718 ! autoimmune hemolytic anemia [Term] id: DOID:10516 name: malignant otitis externa def: "An otitis externa which involves infection of the external ear that has spread to involve the skull bone containing part of the ear canal, the middle ear, and the inner ear. It is caused by the bacteria Pseudomonas. This is common in people with weakened immune systems and in older people with diabetes. (DO)" [http://www.merck.com/mmhe/sec19/ch219/ch219c.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000672.htm "DO"] xref: ICD10CM:H60.2 xref: ICD9CM:380.14 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9463 ! otitis externa created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10518 name: beach ear def: "An otitis externa which is a microbial infection that occurs suddenly, rapidly worsens, and becomes very painful and alarming. It is caused by swimming in polluted water, scratching the ear or inside the ear and object stuck in the ear. It is occasionally associated with middle ear infection or upper respiratory infections such as colds. (DO)" [http://en.wikipedia.org/wiki/Otitis_externa "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000622.htm "DO"] synonym: "acute bacterial inflammation of external ear" EXACT [] synonym: "acute otitis externa, diffuse" EXACT [] synonym: "acute swimmer's ear" EXACT [] synonym: "acute swimmers' ear" EXACT [] synonym: "tank ear" EXACT [] xref: ICD9CM:380.12 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9463 ! otitis externa created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10519 name: chronic fungal otitis externa def: "A otomycosis which is persistent and long-lasting or recurrent. (DO)" [http://www.scielo.br/pdf/bjorl/v75n3/v75n3a10.pdf "DO"] synonym: "chronic mycotic otitis externa" EXACT [] xref: ICD9CM:380.15 xref: MONDO:0001052 is_a: DOID:0050147 ! otomycosis is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:10520 name: acute infection of pinna def: "An otitis externa which involves bacterial infections often related to underlying comorbidities as well as trauma. Common sources of trauma include ear piercing, boxing, blunt trauma, burns, bite wounds and iatrogenic insults. The common bacterial pathogens are staphylococcal and streptococcal species. (DO)" [http://books.google.com/books?id=kggm5ighzbUC&pg=PA462&lpg#v=onepage&q=&f=false "DO"] xref: ICD9CM:380.11 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9463 ! otitis externa created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10525 name: double pterygium def: "A pterygium that is characterized by a fleshy outpouching of conjunctival growth that appears to have multiple heads or areas of bulk or origin and has_symptom multiple fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Double pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Double pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5598180/ "DO"] xref: ICD9CM:372.44 is_a: DOID:0002116 ! pterygium created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10526 name: conjunctival pterygium def: "A pterygium that is characterized by conjunctival degeneration, a fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Conjunctival pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Conjunctival pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO"] synonym: "web eye" EXACT [] is_a: DOID:0002116 ! pterygium is_a: DOID:10139 ! conjunctival degeneration created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10533 name: viral pneumonia def: "A pneumonia described as an inflammatory illness of the lung commonly caused by viruses such as influenza virus, parainfluenza, adenovirus, rhinovirus, herpes simplex virus, respiratory syncytial virus, hantavirus, and cytomegalovirus. (DO)" [http://en.wikipedia.org/wiki/Pneumonia "DO"] synonym: "viral pneumonias" EXACT [] xref: EFO:0007541 xref: ICD10CM:J12.9 xref: ICD9CM:480 xref: MESH:D011024 is_a: DOID:552 ! pneumonia is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10534 name: stomach cancer alt_id: MIM:613659 def: "A gastrointestinal system cancer that is located_in the stomach. (DO)" [http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer "DO", http://en.wikipedia.org/wiki/Stomach "DO"] synonym: "cancer of stomach" EXACT [] synonym: "cancer of the stomach" EXACT [] synonym: "familial diffuse gastric cancer and cleft lip with or without cleft palate" NARROW [] synonym: "gastric cancer" EXACT [] synonym: "gastric cancers" EXACT [] synonym: "intestinal gastric cancer" NARROW [] synonym: "stomach cancers" EXACT [] xref: EFO:0003897 xref: GARD:7704 xref: ICD10CM:C16 xref: ICD10CM:C16.2 xref: ICD10CM:C16.5 xref: ICD10CM:C16.6 xref: ICD9CM:151 xref: ICD9CM:151.4 xref: ICD9CM:151.5 xref: ICD9CM:151.6 xref: NCI:C3387 xref: NCI:C9331 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:9000217 ! Stomach Neoplasms [Term] id: DOID:10536 name: malignant gastric granular cell tumor synonym: "malignant gastric granular cell tumour" EXACT [] synonym: "malignant granular cell tumor of stomach" EXACT [] synonym: "malignant granular cell tumour of stomach" EXACT [] xref: NCI:C5484 is_a: DOID:10534 ! stomach cancer is_a: DOID:9008863 ! Malignant Granular Cell Tumor created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10538 name: gastric fundus cancer def: "A stomach cancer that is located_in the gastric fundus. (DO)" [https://www.cancer.org/cancer/stomach-cancer/about/what-is-stomach-cancer.html "DO"] synonym: "Ca fundus - stomach" EXACT [] synonym: "EFO:0000178" EXACT [] synonym: "malignant neoplasm of fundus of stomach" EXACT [] synonym: "malignant tumor of fundus of stomach" EXACT [] xref: EFO:0000178 xref: ICD10CM:C16.1 xref: ICD9CM:151.3 is_a: DOID:10534 ! stomach cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10540 name: gastric lymphoma synonym: "familial primary gastric lymphoma" EXACT [] synonym: "lymphoma of the stomach" EXACT [] synonym: "primary gastric lymphoma" EXACT [] xref: GARD:6485 xref: MESH:C535648 xref: NCI:C4636 is_a: DOID:0060060 ! non-Hodgkin lymphoma is_a: DOID:10534 ! stomach cancer [Term] id: DOID:10541 name: microinvasive gastric cancer synonym: "early gastric cancer" EXACT [SNOMEDCT_2005_07_31:276809004] synonym: "Surface gastric cancer" EXACT [NCI2004_11_17:C27131] xref: NCI:C27131 xref: RDO:9002468 is_a: DOID:3717 ! gastric adenocarcinoma created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10544 name: pylorus cancer synonym: "Ca pylorus - stomach" EXACT [] synonym: "malignant neoplasm of prepylorus" NARROW [] synonym: "malignant neoplasm of pylorus of stomach" EXACT [] synonym: "malignant tumor of pylorus" EXACT [] xref: ICD10CM:C16.4 xref: ICD9CM:151.1 xref: NCI:C188051 is_a: DOID:10534 ! stomach cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10547 name: pyloric antrum cancer synonym: "malignant neoplasm of antrum of stomach" EXACT [] synonym: "malignant tumor of pyloric antrum" EXACT [] xref: ICD10CM:C16.3 xref: ICD9CM:151.2 is_a: DOID:10544 ! pylorus cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10548 name: cardia cancer def: "A cancer located_in the gastric cardia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33758614 "DO"] synonym: "Ca cardia - stomach" EXACT [] synonym: "malignant neoplasm of cardia of stomach" EXACT [] xref: ICD10CM:C16.0 xref: ICD9CM:151.0 is_a: DOID:10534 ! stomach cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:10550 name: acute eustachian salpingitis def: "A otosalpingitis with a sudden onset and a short course. (DO)" [http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false "DO"] synonym: "acute eustachian tube salpingitis" EXACT [SNOMEDCT_2005_07_31:194268005] xref: ICD10CM:H68.01 xref: ICD9CM:381.51 xref: RDO:9003843 is_a: DOID:2000 ! otosalpingitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10554 name: meningoencephalitis def: "A central nervous system disease that involves encephalitis which occurs along with meningitis. (DO)" [http://en.wikipedia.org/wiki/Encephalitis "DO"] synonym: "Cerebromeningitides" EXACT [] synonym: "Cerebromeningitis" EXACT [] synonym: "Encephalomeningitides" EXACT [] synonym: "Encephalomeningitis" EXACT [] synonym: "Meningoencephalitides" EXACT [] xref: EFO:0007364 xref: ICD10CM:A69.22 xref: MESH:D008590 xref: NCI:C34813 is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:9003736 ! Central Nervous System Viral Diseases is_a: DOID:9471 ! meningitis is_a: DOID:9588 ! encephalitis [Term] id: DOID:10556 name: supine hypotensive syndrome def: "A vascular disease that is characterized by severe supine hypotension in late pregnancy, whose clinical presentation ranges from minimal cardiovascular alterations to severe shock, resulting from inferior vena cava compression by gravid uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22537582 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8164943 "DO"] synonym: "antepartum maternal hypotension syndrome" EXACT [] synonym: "postpartum maternal hypotension syndrome" EXACT [] xref: ICD9CM:669.20 xref: RDO:9002794 is_a: DOID:178 ! vascular disease is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1056 name: oculocerebrorenal syndrome alt_id: MIM:309000 def: "A syndrome that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney. (DO)" [https://ghr.nlm.nih.gov/condition/lowe-syndrome "DO", https://www.omim.org/entry/309000 "DO"] synonym: "cerebro oculo renal syndrome" EXACT [] synonym: "cerebrooculorenal syndrome" EXACT [] synonym: "Lowe Bickel syndrome" EXACT [] synonym: "Lowe Disease" EXACT [] synonym: "Lowe Oculocerebrorenal Syndrome" EXACT [] synonym: "Lowe Syndrome" EXACT [] synonym: "Lowe Terrey MacLachlan Syndrome" EXACT [] synonym: "OCRL" EXACT [] synonym: "OCRL1" EXACT [] synonym: "Oculocerebrorenal Dystrophy" EXACT [] synonym: "oculocerebrorenal syndrome of Lowe" EXACT [] synonym: "phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency" EXACT [] synonym: "renal oculocerebrodystrophy" EXACT [] xref: GARD:3295 xref: ICD10CM:E72.03 xref: MESH:D009800 xref: NCI:C84940 xref: ORDO:534 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:447 ! renal tubular transport disease is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005730 ! Amino Acid Transport Disorders, Inborn is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:10567 name: late yaws def: "A yaws that appears after five years of the initial infection and is characterized by disabling consequences of the nose, bones and palmar/plantar hyperkeratosis. (DO)" [https://www.who.int/neglected_diseases/diseases/yaws/en/ "DO"] synonym: "gummata and ulcers due to yaws" EXACT [] synonym: "gummata of yaws" EXACT [] synonym: "gummatous frambeside" EXACT [] synonym: "multiple papillomata due to yaws and wet crab yaws" EXACT [] synonym: "nodular late yaws" EXACT [] synonym: "ulcers of yaws" EXACT [] synonym: "yaws gummata and ulcers" EXACT [] xref: ICD10CM:A66.1 xref: ICD10CM:A66.4 xref: ICD9CM:102.1 xref: ICD9CM:102.4 xref: NCI:C41354 is_a: DOID:10371 ! yaws created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10568 name: early yaws def: "A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. (DO)" [http://www.who.int/mediacentre/factsheets/fs316/en/ "DO"] synonym: "bone and joint lesions due to yaws" EXACT [] synonym: "bone and joint yaws lesion" EXACT [] synonym: "chancre of yaws" EXACT [] synonym: "initial frambesial ulcer" EXACT [] synonym: "initial lesions of yaws" EXACT [] synonym: "initial or primary frambesia" EXACT [] synonym: "primary frambesia" EXACT [] xref: ICD10CM:A66.0 xref: ICD10CM:A66.6 xref: ICD9CM:102.0 xref: ICD9CM:102.6 xref: NCI:C41352 is_a: DOID:10371 ! yaws created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10573 name: osteomalacia def: "A bone remodeling disease that has_material_basis_in a vitamin D deficiency which results_in softening located_in bone. (DO)" [http://en.wikipedia.org/wiki/Osteomalacia "DO", http://my.clevelandclinic.org/disorders/osteomalacia/hic_osteomalacia.aspx "DO", http://www.mayoclinic.com/health/osteomalacia/DS00935 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000376.htm "DO", http://www.wheelessonline.com/ortho/osteomalacia "DO"] synonym: "adult rickets" EXACT [] xref: EFO:1002027 xref: GARD:7285 xref: ICD9CM:268.2 xref: MESH:D010018 xref: NCI:C26838 is_a: DOID:0080005 ! bone remodeling disease is_a: DOID:10609 ! rickets [Term] id: DOID:10575 name: calcium metabolism disease alt_id: RDO:0001607 def: "Disorders in the processing of calcium in the body: its absorption, transport, storage, and utilization." [MESH:D002128] synonym: "calcium metabolism disorder" EXACT [] synonym: "calcium metabolism disorders" EXACT [] xref: EFO:0005769 xref: ICD9CM:275.4 xref: MESH:D002128 is_a: DOID:0050032 ! mineral metabolism disease [Term] id: DOID:10579 name: leukodystrophy def: "A cerebral degeneration characterized by dysfunction of the white matter of the brain. (DO)" [http://en.wikipedia.org/wiki/Leukodystrophy "DO"] synonym: "CST3-RELATED LEUKODYSTROPHY" NARROW [] xref: GARD:6895 xref: ICD9CM:330.0 xref: MIM:PS221820 xref: NCI:C61253 is_a: DOID:1443 ! cerebral degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10581 name: metachromatic leukodystrophy def: "A sphingolipidosis characterized by the accumulation of sulfatides in cells, especially the myelin producing cells of the nervous system. (DO)" [http://en.wikipedia.org/wiki/Metachromatic_leukodystrophy "DO", http://ghr.nlm.nih.gov/condition/metachromatic-leukodystrophy "DO"] synonym: "ARSA deficiencies" EXACT [] synonym: "ARSA Deficiency" EXACT [] synonym: "Arylsulfatase A Deficiencies" EXACT [] synonym: "Arylsulfatase A Deficiency" EXACT [] synonym: "Arylsulfatase A Deficiency Disease" EXACT [] synonym: "Arylsulfatase A Pseudodeficiency" RELATED [] synonym: "ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE" RELATED [] synonym: "Cerebral sclerosis, Diffuse, Metachromatic Form" EXACT [] synonym: "Cerebroside Sulfatase Deficiencies" EXACT [] synonym: "Cerebroside Sulfatase Deficiency" EXACT [] synonym: "CEREBROSIDE SULFATASE DEFICIENCY PSEUDOARYLSULFATASE A DEFICIENCY" NARROW [] synonym: "Cerebroside Sulphatase Deficiency Disease" EXACT [] synonym: "deficiency of cerebroside-sulfatase" EXACT [] synonym: "Greenfield's Disease" EXACT [] synonym: "Greenfield Disease" EXACT [] synonym: "Infant Metachromatic Leukodystrophies" EXACT [] synonym: "Infant Metachromatic Leukodystrophy" EXACT [] synonym: "Infant-Type Metachromatic Leukodystrophies" EXACT [] synonym: "Infant-Type Metachromatic Leukodystrophy" EXACT [] synonym: "Juvenile Metachromatic Leukodystrophies" EXACT [] synonym: "Juvenile-Type Metachromatic Leukodystrophies" EXACT [] synonym: "Juvenile-Type Metachromatic Leukodystrophy" EXACT [] synonym: "Metachromatic Leukodystrophies" EXACT [] synonym: "metachromatic leukodystrophies, adult" NARROW [] synonym: "metachromatic leukodystrophies, adult-type" NARROW [] synonym: "METACHROMATIC LEUKODYSTROPHY, ADULT" NARROW [] synonym: "metachromatic leukodystrophy, adult-type" NARROW [] synonym: "METACHROMATIC LEUKODYSTROPHY, JUVENILE" NARROW [] synonym: "METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE" NARROW [] synonym: "METACHROMATIC LEUKODYSTROPHY, MILD" NARROW [] synonym: "METACHROMATIC LEUKODYSTROPHY, SEVERE" NARROW [] synonym: "metachromatic leukodystrophy, variant" NARROW [] synonym: "metachromatic leukoencephalopathies" EXACT [] synonym: "metachromatic leukoencephalopathy" EXACT [] synonym: "MLD" EXACT [] synonym: "Scholz cerebral sclerosis" EXACT [] synonym: "sulfatide lipidosis" EXACT [] synonym: "sulfatide lipoidosis" EXACT [] xref: GARD:3230 xref: ICD10CM:E75.25 xref: MESH:D007966 xref: MIM:250100 xref: MONDO:0018868 xref: NCI:C61251 xref: ORDO:512 is_a: DOID:1927 ! sphingolipidosis is_a: DOID:9002902 ! Sulfatidosis is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:10582 name: Refsum disease alt_id: MIM:266500 def: "A lipid metabolic disorder that is characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. (DO)" [https://en.wikipedia.org/wiki/Refsum_disease "DO", https://medlineplus.gov/genetics/condition/refsum-disease/ "DO", https://pubmed.ncbi.nlm.nih.gov/30578512/ "DO", https://rarediseases.org/rare-diseases/refsum-disease/ "DO", MESH:D012035] synonym: "Adult Refsum Disease" EXACT [] synonym: "adult Refsum diseases" EXACT [] synonym: "Classic Refsum Disease" EXACT [] synonym: "Classic Refsum Diseases" EXACT [] synonym: "Hemeralopia Heredoataxia Polyneuritiformis" EXACT [] synonym: "Hereditary Motor And Sensory Neuropathy Iv" EXACT [] synonym: "Hereditary Motor and Sensory Neuropathy Type IV" EXACT [] synonym: "Heredopathia Atactica Polyneuritiformis" EXACT [] synonym: "HMSN 4" EXACT [] synonym: "HMSN4" EXACT [] synonym: "HMSN IV" EXACT [] synonym: "HMSN Type IV" EXACT [] synonym: "HSMN IV" EXACT [] synonym: "PHYH-RELATED CONDITION" EXACT [] synonym: "Phytanic Acid Oxidase Deficiency" EXACT [] synonym: "Phytanic Acid Storage Disease" EXACT [] synonym: "Refsum's disease" EXACT [] synonym: "Refsum's Syndrome" EXACT [] synonym: "Refsum Disease, Phytanic Acid Oxidase Deficiency" EXACT [] synonym: "Refsum Disease, Phytanoyl CoA Hydroxylase Deficiency" EXACT [] synonym: "Refsums disease" EXACT [] synonym: "Refsums Syndrome" EXACT [] synonym: "Refsum Syndrome" EXACT [] synonym: "Refsum Thiebaut Syndrome" EXACT [] synonym: "Refsum-Thiebaut syndromes" EXACT [] xref: GARD:5691 xref: ICD10CM:G60.1 xref: ICD9CM:356.3 xref: MESH:D012035 xref: NCI:C85043 xref: ORDO:773 is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:10584 name: retinitis pigmentosa def: "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss. (DO)" [http://en.wikipedia.org/wiki/Retinitis_pigmentosa "DO", http://ghr.nlm.nih.gov/condition/retinitis-pigmentosa "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4043609/ "DO", https://www.genome.gov/Genetic-Disorders/Retinitis-Pigmentosa "DO"] synonym: "autosomal dominant retinitis pigmentosa" NARROW [] synonym: "autosomal recessive retinitis pigmentosa" NARROW [] synonym: "pericentral pigmentary retinopathy" EXACT [] synonym: "pigmentary retinopathies" EXACT [] synonym: "pigmentary retinopathy" EXACT [] synonym: "progressive retinal atrophy, type 3" NARROW [] synonym: "retinitis pigmentosa, dominant" NARROW [] synonym: "retinitis pigmentosa, dominant/recessive" NARROW [] synonym: "retinitis pigmentosa, recessive" NARROW [] synonym: "RP" EXACT [] synonym: "syndromic retinitis pigmentosa" NARROW [] synonym: "syndromic RP" NARROW [] synonym: "tapetoretinal degeneration" EXACT [] synonym: "tapetoretinal degenerations" EXACT [] xref: EFO:0020026 xref: EFO:0020028 xref: GARD:5694 xref: ICD10CM:H35.52 xref: MESH:D012174 xref: MIM:268000 xref: MIM:PS268000 xref: MONDO:0019200 xref: NCI:C85045 xref: OMIA:001455 xref: OMIA:001918 xref: ORDO:791 is_a: DOID:8466 ! retinal degeneration is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:10587 name: Krabbe disease alt_id: MIM:245200 alt_id: OMIA:000578 def: "An autosomal recessive metabolic disorder caused by a deficiency of GALACTOSYLCERAMIDASE leading to intralysosomal accumulation of galactolipids such as GALACTOSYLCERAMIDES and PSYCHOSINE. It is characterized by demyelination associated with large multinucleated globoid cells, predominantly involving the white matter of the central nervous system. The loss of MYELIN disrupts normal conduction of nerve impulses." [MESH:D007965] synonym: "beta galactocerebrosidase deficiency" EXACT [] synonym: "classic globoid cell leukodystrophy" EXACT [] synonym: "Diffuse Globoid Body Sclerosis" EXACT [] synonym: "Early Onset Globoid Cell Leukodystrophy" EXACT [] synonym: "galactocerebrosidase deficiencies" EXACT [] synonym: "Galactocerebrosidase Deficiency" EXACT [] synonym: "Galactosylceramidase Deficiency Disease" EXACT [] synonym: "galactosylceramidase deficiency diseases" EXACT [] synonym: "galactosylceramide beta-galactosidase deficiencies" EXACT [] synonym: "Galactosylceramide beta Galactosidase Deficiency" EXACT [] synonym: "Galactosylceramide beta Galactosidase Deficiency Disease" EXACT [] synonym: "galactosylceramide-beta-galactosidase deficiency diseases" EXACT [] synonym: "Galactosylceramide Lipidosis" EXACT [] synonym: "Galactosylcerebrosidase Deficiency" EXACT [] synonym: "Galactosylsphingosine Lipidosis" EXACT [] synonym: "GALC Deficiencies" EXACT [] synonym: "GALC Deficiency" EXACT [] synonym: "GCL" EXACT [] synonym: "GLD" EXACT [] synonym: "Globoid Cell Leukodystrophies" EXACT [] synonym: "Globoid Cell Leukodystrophy" EXACT [] synonym: "Globoid Cell Leukoencephalopathies" EXACT [] synonym: "Globoid Cell Leukoencephalopathy" EXACT [] synonym: "Globoid Leukodystrophies" EXACT [] synonym: "Globoid Leukodystrophy" EXACT [] synonym: "Infantile Globoid Cell Leukodystrophy" EXACT [] synonym: "Krabbe's Disease" EXACT [] synonym: "Krabbe's leukodystrophy" EXACT [] synonym: "Krabbe Leukodystrophy" EXACT [] synonym: "Krabbes disease" EXACT [] synonym: "Krabbes leukodystrophy" EXACT [] synonym: "late onset globoid cell leukodystrophy" EXACT [] synonym: "psychosine lipidosis" EXACT [] xref: GARD:6844 xref: ICD10CM:E75.23 xref: MESH:D007965 xref: NCI:C133088 xref: NCI:C61254 is_a: DOID:1927 ! sphingolipidosis is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:10588 name: adrenoleukodystrophy def: "A leukodystrophy that disrupts the breakdown of very-long-chain fatty acids resulting in progressive brain damage, failure of the adrenal glands and eventually death. (DO)" [http://en.wikipedia.org/wiki/Adrenoleukodystrophy "DO", https://ghr.nlm.nih.gov/condition/x-linked-adrenoleukodystrophy "DO"] synonym: "Addison disease and cerebral sclerosis" EXACT [] synonym: "adrenomyeloneuropathy" RELATED [] synonym: "ALD" EXACT [] synonym: "ALD (adrenoleukodystrophy)" EXACT [] synonym: "AMN" RELATED [] synonym: "Bronze Schilder disease" EXACT [] synonym: "diffuse sclerosis" EXACT [] synonym: "Encephalitis periaxialis concentrica" EXACT [] synonym: "Encephalitis periaxialis, Schilder's" EXACT [] synonym: "melanodermic leukodystrophies" EXACT [] synonym: "melanodermic leukodystrophy" EXACT [] synonym: "Schilder Addison Complex" EXACT [] synonym: "Siemerling Creutzfeldt disease" EXACT [] synonym: "sudanophilic cerebral sclerosis" EXACT [] synonym: "X-ALD" EXACT [] synonym: "X-ALD (X-linked adrenoleukodystrophy)" EXACT [] synonym: "X-linked adrenoleukodystrophy" EXACT [] synonym: "X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY" NARROW [] xref: ICD10CM:E71.52 xref: MESH:D000326 xref: MIM:300100 xref: MONDO:0018544 xref: NCI:C61252 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders is_a: DOID:9008622 ! Adrenal Insufficiency is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:1059 name: intellectual disability def: "A specific developmental disorder that involves significant limitations both in mental functioning and in adaptive behavior such as communicating, taking care of him or herself, and social skills. (DO)" [http://aaidd.org/intellectual-disability/definition#.WsPDT2VvqaU "DO", https://en.wikipedia.org/wiki/Intellectual_disability "DO"] synonym: "autosomal recessive non-syndromic intellectual disability" NARROW [] synonym: "CLIP1-RELATED INTELLECTUAL DISABILITY" NARROW [] synonym: "idiocy" EXACT [] synonym: "intellectual deficiency" EXACT [] synonym: "intellectual deficiency, moderate" NARROW [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER" EXACT [] synonym: "Intellectual Development Disorder" EXACT [] synonym: "intellectual development disorders" EXACT [] synonym: "Intellectual Disabilities" EXACT [] synonym: "INTELLECTUAL DISABILITY (MODERATE)" NARROW [] synonym: "intellectual disability, dominant" NARROW [] synonym: "Intellectual disability, mild" NARROW [] synonym: "INTELLECTUAL DISABILITY, PROFOUND" NARROW [] synonym: "INTELLECTUAL DISABILITY, RECESSIVE" NARROW [] synonym: "INTELLECTUAL DISABILITY, SEVERE" NARROW [] synonym: "Intellectual disability syndrome" NARROW [] synonym: "intellectual disability with severe speech impairment" NARROW [] synonym: "INTELLECTUAL FUNCTIONING DISABILITY" EXACT [] synonym: "mental deficiencies" EXACT [] synonym: "mental deficiency" EXACT [] synonym: "mental retardation" EXACT [] synonym: "psychosocial mental retardation" NARROW [] synonym: "psychosocial mental retardations" NARROW [] synonym: "severe intellectual deficiency" NARROW [] synonym: "syndromic intellectual disability" NARROW [] xref: EFO:0003847 xref: MESH:D008607 xref: NCI:C84392 xref: NCI:C97250 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:9002320 ! Neurobehavioral Manifestations is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:10590 name: mild pre-eclampsia def: "A pre-eclampsia characterized by the presence of hypertension without evidence of end-organ damage, in a woman who was normotensive before 20 weeks' gestation. (DO)" [https://www.britannica.com/science/mild-preeclampsia "DO"] xref: ICD9CM:642.40 is_a: DOID:10591 ! pre-eclampsia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10591 name: pre-eclampsia def: "A hypertension occurring during pregnancy characterized by large amounts of protein in the urine (proteinuria) and edema, usually by the last trimester of pregnancy. (DO)" [http://en.wikipedia.org/wiki/Pre-eclampsia "DO", http://ghr.nlm.nih.gov/condition/preeclampsia "DO", https://www.ncbi.nlm.nih.gov/pubmed/24400024 "DO"] synonym: "edema proteinuria hypertension gestosis" EXACT [] synonym: "EPH Complex" EXACT [] synonym: "EPH Gestosis" EXACT [] synonym: "EPOXIDE HYDROLASE POLYMORPHISM" RELATED [] synonym: "gestational hypertension" EXACT [] synonym: "HELLP" RELATED [] synonym: "HEMOLYSIS, ELEVATED LIVER ENZYMES, AND LOW PLATELET COUNT" RELATED [] synonym: "hypertension induced by pregnancy" EXACT [] synonym: "PEE" EXACT [] synonym: "Preeclampsia" EXACT [] synonym: "preeclampsia/eclampsia" EXACT [] synonym: "Preeclampsia, susceptibility to" RELATED [] synonym: "pregnancy associated hypertension" EXACT [] synonym: "proteinuric hypertension of pregnancy" EXACT [] xref: EFO:0000668 xref: ICD10CM:O14 xref: ICD10CM:O14.9 xref: ICD10CM:O14.90 xref: MESH:D011225 xref: MIM:PS189800 xref: NCI:C34943 xref: NCI:C85021 xref: ORDO:275555 is_a: DOID:9001650 ! Pregnancy-Induced Hypertension [Term] id: DOID:10593 name: idiopathic progressive polyneuropathy xref: ICD9CM:356.4 is_a: DOID:1389 ! polyneuropathy created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:10595 name: Charcot-Marie-Tooth disease alt_id: MIM:180800 def: "A neuromuscular disease that is characterized by a slowly progressive degeneration of the muscles of the foot, lower leg, hand and forearm. (DO)" [https://www.genome.gov/11009201 "DO", https://www.genome.gov/Genetic-Disorders/Charcot-Marie-Tooth-Disease "DO"] synonym: "Charcot Marie disease" EXACT [] synonym: "Charcot Marie Tooth hereditary neuropathy" EXACT [] synonym: "Charcot Marie Tooth muscular atrophy" EXACT [] synonym: "Charcot Marie Tooth syndrome" EXACT [] synonym: "CMT - Charcot-Marie-Tooth disease" EXACT [] synonym: "hereditary areflexic dystasia" EXACT [] synonym: "hereditary areflexic dystasias" EXACT [] synonym: "peroneal muscular atrophies" EXACT [] synonym: "peroneal muscular atrophy" EXACT [] synonym: "Roussy Levy disease" EXACT [] synonym: "Roussy Levy hereditary areflexic dystasia" EXACT [] synonym: "Roussy Levy syndrome" EXACT [] xref: EFO:0004148 xref: GARD:6034 xref: ICD9CM:356.1 xref: MESH:D002607 xref: MIM:PS118220 xref: MONDO:0015626 xref: NCI:C75467 is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:106 name: pleural tuberculosis def: "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17426219 "DO"] synonym: "Pearly disease" EXACT [] synonym: "Pleural Tuberculoses" EXACT [] synonym: "tuberculosis of pleura" EXACT [] synonym: "Tuberculous Pleurisies" EXACT [] synonym: "Tuberculous Pleurisy" EXACT [] synonym: "tuberculous pleurisy in primary progressive tuberculosis" EXACT [] synonym: "tuberculous pleuritis" EXACT [] xref: EFO:0007446 xref: ICD10CM:A15.6 xref: ICD9CM:010.1 xref: ICD9CM:012.0 xref: MESH:D014396 xref: NCI:C26898 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:1205 ! allergic disease is_a: DOID:1532 ! pleural disease is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:1060 name: Hartnup disease alt_id: MIM:234500 def: "An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Hartnup "DO"] synonym: "aminoaciduria, Hartnup type" EXACT [] synonym: "deficiency of tryptophan oxygenase" EXACT [] synonym: "Hartnup disorder" EXACT [] synonym: "HND" EXACT [] synonym: "neutral 1 amino acid transport defect" EXACT [] synonym: "neutral amino acids transport disorder" EXACT [] synonym: "Neutral Amino Acid Transport Defect" EXACT [] synonym: "neutral amino acid transport disorder" EXACT [] xref: GARD:6569 xref: ICD10CM:E72.02 xref: MESH:D006250 xref: NCI:C84748 xref: ORDO:2116 is_a: DOID:9002207 ! Renal Aminoacidurias is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005730 ! Amino Acid Transport Disorders, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:10600 name: chronic tic disorder def: "A tic disorder that is characterized by single or multiple motor or phonic tics, but not both, which are present for more than a year. (DO)" [http://en.wikipedia.org/wiki/Tic_disorder "DO"] synonym: "chronic motor or vocal tic disorder" EXACT [] xref: ICD10CM:F95.1 xref: ICD9CM:307.22 xref: NCI:C116768 is_a: DOID:2769 ! tic disorder created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:10603 name: glucose intolerance def: "A pathological state in which BLOOD GLUCOSE level is less than approximately 140 mg/100 ml of PLASMA at fasting, and above approximately 200 mg/100 ml plasma at 30-, 60-, or 90-minute during a GLUCOSE TOLERANCE TEST. This condition is seen frequently in DIABETES MELLITUS, but also occurs with other diseases and MALNUTRITION." [MESH:D018149] synonym: "glucose intolerances" EXACT [] synonym: "glucose malabsorption" EXACT [] synonym: "impaired glucose tolerance" EXACT [] synonym: "impaired glucose tolerances" EXACT [] synonym: "malabsorption of glucose" EXACT [] xref: ICD10CM:R73.03 xref: MESH:D018149 xref: NCI:C34646 is_a: DOID:4195 ! hyperglycemia [Term] id: DOID:10604 name: lactose intolerance def: "A carbohydrate metabolic disorder that is characterized by the impaired ability to digest lactose. (DO)" [https://medlineplus.gov/genetics/condition/lactose-intolerance/ "DO"] synonym: "alactasia" EXACT [] synonym: "Dairy Product Intolerance" EXACT [] synonym: "Hypolactasia" EXACT [] synonym: "Lactose Malabsorption" EXACT [] synonym: "LM - lactose malabsorption" EXACT [] synonym: "milk sugar intolerance" EXACT [] xref: EFO:1000062 xref: ICD10CM:E73 xref: MESH:D007787 xref: NCI:C3154 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10605 name: short bowel syndrome alt_id: MESH:D012778 def: "An intestinal disease that is characterized by a reduced ability to absorb nutrients due to the physical loss or the loss of function of a portion of the small and/or large intestine. (DO)" [https://rarediseases.org/rare-diseases/short-bowel-syndrome/ "DO"] synonym: "acquired short bowel syndrome" RELATED [] synonym: "congenital short bowel syndrome" EXACT [] synonym: "congenital short bowel syndrome 1" EXACT [] synonym: "CONGENITAL SHORT BOWEL SYNDROME, AUTOSOMAL RECESSIVE" EXACT [] synonym: "CSBS" EXACT [] synonym: "short gut syndrome" EXACT [] xref: MIM:615237 xref: NCI:C99059 is_a: DOID:5295 ! intestinal disease is_a: DOID:9000790 ! Postoperative Complications is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10606 name: blind loop syndrome def: "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption. (DO)" [https://en.wikipedia.org/wiki/Blind_loop_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/20572300 "DO"] synonym: "bacterial overgrowth syndrome" EXACT [] synonym: "Stagnant Loop Syndrome" EXACT [] synonym: "stagnant loop syndromes" EXACT [] xref: EFO:0007175 xref: ICD10CM:K90.2 xref: ICD9CM:579.2 xref: MESH:D001765 xref: NCI:C34431 is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10607 name: tropical sprue def: "A chronic malabsorption syndrome, occurring mainly in residents of or visitors to the tropics or subtropics. The failed INTESTINAL ABSORPTION of nutrients from the SMALL INTESTINE results in MALNUTRITION and ANEMIA that is due to FOLIC ACID deficiency." [MESH:D013182] synonym: "Idiopathic Tropical Malabsorption Syndrome" EXACT [] synonym: "tropical steatorrhea" EXACT [] xref: GARD:7824 xref: ICD10CM:K90.1 xref: ICD9CM:579.1 xref: MESH:D013182 xref: NCI:C45428 is_a: DOID:5295 ! intestinal disease is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10608 name: celiac disease alt_id: MIM:212750 alt_id: MIM:607202 alt_id: MIM:609753 alt_id: MIM:609754 alt_id: MIM:609755 alt_id: MIM:611598 alt_id: MIM:612005 alt_id: MIM:612006 alt_id: MIM:612007 alt_id: MIM:612008 alt_id: MIM:612009 alt_id: MIM:612010 alt_id: MIM:612011 def: "An autoimmune disease of gastrointestinal tract that is caused by a reaction located_in small intestine to gliadin, a prolamin (gluten protein) found in wheat, and similar proteins found in the crops of the tribe Triticeae. The disease is associated with HLA-DQ gene. It has_symptom abdominal pain, has_symptom constipation, has_symptom diarrhea, has_symptom nausea and vomiting, and has_symptom loss of appetite. (DO)" [http://en.wikipedia.org/wiki/Coeliac_disease "DO", http://www.celiac.org/ "DO", http://www.mayoclinic.com/health/celiac-disease/DS00319 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000233.htm "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/celiac-disease "DO"] synonym: "AIS5" NARROW [] synonym: "CELIAC1" RELATED [] synonym: "CELIAC10" RELATED [] synonym: "CELIAC11" RELATED [] synonym: "CELIAC12" RELATED [] synonym: "CELIAC13" RELATED [] synonym: "CELIAC2" RELATED [] synonym: "CELIAC3" RELATED [] synonym: "CELIAC4" RELATED [] synonym: "CELIAC5" RELATED [] synonym: "CELIAC6" RELATED [] synonym: "CELIAC7" RELATED [] synonym: "CELIAC8" RELATED [] synonym: "CELIAC9" RELATED [] synonym: "celiac disease, susceptibility to, 1" RELATED [] synonym: "celiac disease, susceptibility to, 10" RELATED [] synonym: "celiac disease, susceptibility to, 11" RELATED [] synonym: "celiac disease, susceptibility to, 12" RELATED [] synonym: "celiac disease, susceptibility to, 13" RELATED [] synonym: "celiac disease, susceptibility to, 2" RELATED [] synonym: "celiac disease, susceptibility to, 3" RELATED [] synonym: "celiac disease, susceptibility to, 4" RELATED [] synonym: "celiac disease, susceptibility to, 5" RELATED [] synonym: "celiac disease, susceptibility to, 6" RELATED [] synonym: "celiac disease, susceptibility to, 7" RELATED [] synonym: "celiac disease, susceptibility to, 8" RELATED [] synonym: "celiac disease, susceptibility to, 9" RELATED [] synonym: "celiac sprue" EXACT [] synonym: "celiac sprue, susceptibility to, 1" RELATED [] synonym: "coeliac disease" EXACT [] synonym: "Gluten Enteropathies" EXACT [] synonym: "Gluten Enteropathy" EXACT [] synonym: "Gluten-Sensitive Enteropathies" EXACT [] synonym: "gluten-sensitive enteropathy" EXACT [] synonym: "gluten-sensitive enteropathy, susceptibility to, 1" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 10" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 11" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 12" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 13" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 2" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 3" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 4" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 5" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 6" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 7" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 8" RELATED [] synonym: "gluten-sensitive enteropathy, susceptibility to, 9" RELATED [] synonym: "GSES" EXACT [] synonym: "idiopathic steatorrhea" EXACT [] synonym: "nontropical sprue" EXACT [] synonym: "sprue" EXACT [] xref: EFO:0001060 xref: GARD:11998 xref: ICD10CM:K90.0 xref: ICD9CM:579.0 xref: MESH:D002446 xref: MIM:PS212750 xref: NCI:C26714 xref: ORDO:555 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:10609 name: rickets def: "A bone remodeling disease that has_material_basis_in impaired mineralization or calcification of bones before epiphyseal closure due to deficiency or impaired metabolism of vitamin D, phosphorus or calcium which results_in softening and deformity located_in bone. (DO)" [http://en.wikipedia.org/wiki/Rickets "DO", http://www.mayoclinic.com/health/rickets/DS00813 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000344.htm "DO", http://www.umm.edu/ency/article/000344.htm "DO", https://en.wikipedia.org/wiki/Rickets#Types "DO", https://www.ncbi.nlm.nih.gov/pubmed/26365554 "DO"] synonym: "active rickets" EXACT [SNOMEDCT_2005_07_31:190640006] synonym: "rachitides" EXACT [] synonym: "rachitis" EXACT [] synonym: "vitamin D hydroxylation-deficient rickets" EXACT [] xref: EFO:0005583 xref: GARD:5700 xref: ICD10CM:E55.0 xref: MESH:D012279 xref: NCI:C26878 xref: ORDO:289157 is_a: DOID:0080005 ! bone remodeling disease is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9006359 ! Vitamin D Deficiency [Term] id: DOID:10610 name: pancreatic steatorrhea synonym: "pancreatic steatorrhoea" EXACT [] xref: ICD10CM:K90.3 xref: ICD9CM:579.4 xref: RDO:9004840 is_a: DOID:26 ! pancreas disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10611 name: protein-losing enteropathy alt_id: MIM:226300 def: "Pathological conditions in the INTESTINES that are characterized by the gastrointestinal loss of serum proteins, including SERUM ALBUMIN; IMMUNOGLOBULINS; and at times LYMPHOCYTES. Severe condition can result in HYPOGAMMAGLOBULINEMIA or LYMPHOPENIA. Protein-losing enteropathies are associated with a number of diseases including INTESTINAL LYMPHANGIECTASIS; WHIPPLE'S DISEASE; and NEOPLASMS of the SMALL INTESTINE." [MESH:D011504] synonym: "CD55-RELATED CONDITION" EXACT [] synonym: "CHAPLE" EXACT [] synonym: "COMPLEMENT HYPERACTIVATION, ANGIOPATHIC THROMBOSIS, AND PROTEIN-LOSING ENTEROPATHY" EXACT [] synonym: "Exudative Enteropathies" EXACT [] synonym: "Exudative Enteropathy" EXACT [] synonym: "idiopathic hypercatabolic hypoproteinemia" EXACT [] synonym: "idiopathic hypercatabolic hypoproteinemias" EXACT [] synonym: "protein-losing enteropathies" EXACT [] xref: MESH:D011504 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:10612 name: allergic urticaria def: "An urticaria that is characterized by erythematous papules and plaques, has_symptom pruritis, and has_material_basis_in allergic reaction. (DO)" [https://www.aafp.org/afp/2017/0601/p717.html "DO"] xref: EFO:1000669 xref: ICD10CM:L50.0 xref: ICD9CM:708.0 is_a: DOID:1205 ! allergic disease is_a: DOID:1555 ! urticaria created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10615 name: acute gonococcal cervicitis def: "An acute cervicitis that is caused by gonorrhea. (DO)" [https://www.mayoclinic.org/diseases-conditions/cervicitis/symptoms-causes/syc-20370814 "DO"] synonym: "acute gonorrhea of cervix" EXACT [] synonym: "gonococcal cervicitis" EXACT [] xref: ICD9CM:098.15 is_a: DOID:10616 ! acute cervicitis is_a: DOID:7551 ! gonorrhea created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10616 name: acute cervicitis def: "A cervicitis that is characterized by onset within the past 1 - 3 days. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23606387 "DO"] xref: NCI:C27056 is_a: DOID:2568 ! cervicitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10619 name: lymph node cancer def: "A lymphatic system cancer that is located_in the lymph node. (DO)" [http://www.cancer.org/cancer/cancerbasics/lymph-nodes-and-cancer "DO"] synonym: "lymph node neoplasm" EXACT [] xref: GARD:6932 xref: NCI:C35497 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:9942 ! lymph node disease [Term] id: DOID:1062 name: Fanconi syndrome def: "A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. (DO)" [http://en.wikipedia.org/wiki/Fanconi_syndrome "DO", http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/fanconi_syndrome.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000333.htm "DO"] synonym: "adult Fanconi anemia" EXACT [] synonym: "adult Fanconi syndrome" EXACT [] synonym: "congenital Fanconi syndrome" EXACT [] synonym: "De Toni-Debre-Fanconi Syndrome" EXACT [] synonym: "deToni Fanconi syndrome" EXACT [] synonym: "Fanconi-de-Toni syndrome" EXACT [] synonym: "Fanconi Renotubular Syndrome" EXACT [] synonym: "Fanconi Syndrome with Intestinal Malabsorption and Galactose Intolerance" EXACT [] synonym: "Fanconi Syndrome without Cystinosis" EXACT [] synonym: "FRTS" EXACT [] synonym: "Hepatic Glycogenosis with Amino Aciduria and Glucosuria" EXACT [] synonym: "Hepatic Glycogenosis with Fanconi Nephropathy" EXACT [] synonym: "Hepatorenal Glycogenosis with Renal Fanconi Syndrome" EXACT [] synonym: "Idiopathic De Toni-Debre-Fanconi Syndrome" EXACT [] synonym: "Lignac Fanconi Syndrome" EXACT [] synonym: "Luder Sheldon Syndrome" EXACT [] synonym: "Neonatal De Toni-Debre-Fanconi Syndrome" EXACT [] synonym: "Primary Toni-Debre-Fanconi Syndrome" EXACT [] synonym: "proximal renal tubular dysfunction" EXACT [] synonym: "pseudo phlorizin diabetes" EXACT [] synonym: "renal Fanconi syndrome" EXACT [] synonym: "RFS" EXACT [] synonym: "Toni-Debre-Fanconi syndrome" EXACT [] xref: GARD:9118 xref: MESH:D005198 xref: MIM:PS134600 xref: NCI:C3034 xref: NCI:C4377 xref: ORDO:3337 is_a: DOID:225 ! syndrome is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:10627 name: primary optic atrophy xref: ICD10CM:H47.21 xref: ICD9CM:377.11 xref: RDO:9003215 is_a: DOID:5723 ! optic atrophy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10629 name: microphthalmia def: "An eye disease where one or both eyeballs are abnormally small. (DO)" [http://en.wikipedia.org/wiki/Microphthalmia "DO", http://ghr.nlm.nih.gov/condition/microphthalmia "DO"] synonym: "anophthalmia/microphthalmia" EXACT [] synonym: "BILATERAL MICROPHTHALMOS" NARROW [] synonym: "COMPLEX MICROPHTHALMIA" NARROW [] synonym: "microphthalmos" EXACT [] synonym: "simple microphthalmos" NARROW [] synonym: "UNILATERAL MICROPHTHALMOS" NARROW [] xref: EFO:0005569 xref: GARD:12085 xref: ICD10CM:Q11.2 xref: ICD9CM:743.1 xref: MESH:D008850 xref: MIM:PS251600 xref: NCI:C98989 is_a: DOID:5614 ! eye disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:1063 name: interstitial nephritis def: "Inflammation of the interstitial tissue of the kidney. This term is generally used for primary inflammation of KIDNEY TUBULES and/or surrounding interstitium. For primary inflammation of glomerular interstitium, see GLOMERULONEPHRITIS. Infiltration of the inflammatory cells into the interstitial compartment results in EDEMA, increased spaces between the tubules, and tubular renal dysfunction." [MESH:D009395] synonym: "interstitial nephritides" EXACT [] synonym: "renal tubulo-interstitial disease" EXACT [] synonym: "tubulointerstitial nephritides" EXACT [] synonym: "tubulointerstitial nephritis" EXACT [] xref: ICD10CM:N12 xref: MESH:D009395 xref: NCI:C26834 is_a: DOID:10952 ! nephritis [Term] id: DOID:10631 name: partial optic atrophy xref: ICD9CM:377.15 is_a: DOID:5723 ! optic atrophy created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10632 name: Wolfram syndrome def: "A syndrome that is characterized by diabetes mellitus, optic atrophy, and deafness. (DO)" [http://en.wikipedia.org/wiki/Wolfram_syndrome "DO"] synonym: "diabetes insipidus and mellitus with optic atrophy and deafness" EXACT [] synonym: "diabetes insipidus, diabetes mellitus, optic atrophy, and deafness" EXACT [] synonym: "DIDMOAD" EXACT [] synonym: "DIDMOAD syndrome" EXACT [] synonym: "DIDMOADUD" EXACT [] synonym: "WFS" EXACT [] xref: GARD:7898 xref: MESH:D014929 xref: NCI:C35133 xref: ORDO:3463 is_a: DOID:9005165 ! Deaf-Blind Disorders is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9409 ! diabetes insipidus is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:1064 name: cystinosis alt_id: MIM:219800 def: "A lysosomal storage disease characterized by the abnormal accumulation of cystine in the lysosomes. It follows an autosomal recessive inheritance pattern and that has_material_basis_in mutations in the CTNS gene, located on chromosome 17. (DO)" [http://ghr.nlm.nih.gov/condition/cystinosis "DO", https://en.wikipedia.org/wiki/Cystinosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/12110740 "DO"] synonym: "CTNS" EXACT [] synonym: "cystine diatheses" EXACT [] synonym: "Cystine Diathesis" EXACT [] synonym: "Cystine Disease" EXACT [] synonym: "cystine diseases" EXACT [] synonym: "Cystine Storage Disease" EXACT [] synonym: "Cystine Storage Diseases" EXACT [] synonym: "Cystinoses" EXACT [] synonym: "CYSTINOSIS, ATYPICAL NEPHROPATHIC" NARROW [] synonym: "Defect of Cystinosin" EXACT [] synonym: "defect of lysosomal cystine transport protein" EXACT [] synonym: "nephropathic cystinoses" EXACT [] synonym: "nephropathic cystinosis" EXACT [] xref: GARD:6236 xref: MESH:D003554 xref: NCI:C129932 xref: NCI:C2976 xref: ORDO:213 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:10646 name: schizotypal personality disorder def: "A personality disorder that involves a need for social isolation, anxiety in social situations, odd behavior and thinking, and often unconventional beliefs. (DO)" [http://en.wikipedia.org/wiki/Schizotypal_personality_disorder "DO"] synonym: "Borderline Schizophrenia" EXACT [] synonym: "borderline schizophrenias" EXACT [] synonym: "Incipient Schizophrenia" EXACT [] synonym: "Incipient Schizophrenias" EXACT [] synonym: "Latent Schizophrenia" EXACT [] synonym: "Latent Schizophrenias" EXACT [] synonym: "Pseudoneurotic Schizophrenia" EXACT [] synonym: "Pseudoneurotic Schizophrenias" EXACT [] synonym: "Pseudopsychopathic Schizophrenia" EXACT [] synonym: "Pseudopsychopathic Schizophrenias" EXACT [] synonym: "schizotypal personality disorders" EXACT [] xref: ICD10CM:F21 xref: ICD9CM:301.22 xref: MESH:D012569 xref: NCI:C92632 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10648 name: acute inferoposterior infarction xref: ICD9CM:410.30 is_a: DOID:9408 ! acute myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:10649 name: acute inferolateral myocardial infarction xref: ICD9CM:410.20 is_a: DOID:9408 ! acute myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:10651 name: acute anterolateral myocardial infarction xref: ICD9CM:410.0 is_a: DOID:9408 ! acute myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:10652 name: Alzheimer's disease alt_id: MIM:502500 def: "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. (DO)" [http://en.wikipedia.org/wiki/Alzheimer%27s_disease "DO", http://www.merriam-webster.com/medical/alzheimer%27s%20disease "DO", http://www.nia.nih.gov/alzheimers/publication/alzheimers-disease-fact-sheet "DO"] synonym: "acute confusional senile dementia" EXACT [] synonym: "AD" EXACT [] synonym: "alpha-2-macroglobulin polymorphism" RELATED [] synonym: "Alzheimer dementia (AD)" EXACT [] synonym: "Alzheimer disease" EXACT [] synonym: "Alzheimer disease, association with" RELATED [] synonym: "Alzheimer Disease, Early-Onset, Susceptibility To" RELATED [] synonym: "ALZHEIMER DISEASE, EARLY-ONSET, WITH CEREBRAL AMYLOID ANGIOPATHY" NARROW [] synonym: "Alzheimer Disease, Late-Onset, Susceptibility To" RELATED [] synonym: "ALZHEIMER DISEASE, PROTECTION AGAINST" NARROW [] synonym: "Alzheimer Disease, Susceptibility To" EXACT [] synonym: "Alzheimer Sclerosis" EXACT [] synonym: "Alzheimers dementia" EXACT [] synonym: "Alzheimer Syndrome" EXACT [] synonym: "Alzheimer Type Dementia" EXACT [] synonym: "Alzheimer Type Dementia (ATD)" EXACT [] synonym: "Alzheimer Type Senile Dementia" EXACT [] synonym: "Early Onset Alzheimer Disease" EXACT [] synonym: "EARLY-ONSET FAMILIAL ALZHEIMER DISEASE" NARROW [] synonym: "familial Alzheimer disease" RELATED [] synonym: "Familial Alzheimer Disease (FAD)" EXACT [] synonym: "Focal Onset Alzheimer's Disease" EXACT [] synonym: "Late Onset Alzheimer Disease" NARROW [] synonym: "late-onset Alzheimers disease" NARROW [] synonym: "presenile Alzheimer dementia" EXACT [] synonym: "presenile and senile dementia" NARROW [] synonym: "presenile dementia" EXACT [] synonym: "primary senile degenerative dementia" EXACT [] synonym: "SDAT" EXACT [] synonym: "senile dementia" EXACT [] synonym: "transferrin variant C1/C2" RELATED [] xref: EFO:0000249 xref: EFO:1001870 xref: GARD:10254 xref: ICD9CM:331.0 xref: MESH:D000544 xref: MONDO:0004975 xref: NCI:C2866 is_a: DOID:1307 ! dementia is_a: DOID:680 ! tauopathy [Term] id: DOID:10655 name: lipoma of colon synonym: "colonic lipoma" EXACT [] xref: NCI:C5493 xref: RDO:9004391 is_a: DOID:4118 ! colon neuroendocrine neoplasm is_a: DOID:6460 ! large intestine lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10656 name: colon leiomyoma synonym: "colonic leiomyoma" EXACT [] xref: NCI:C5492 is_a: DOID:5143 ! large bowel leiomyoma is_a: DOID:5353 ! colonic disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10657 name: colonic lymphangioma synonym: "lymphangioma of colon" EXACT [] xref: MONDO:0001093 xref: NCI:C5500 is_a: DOID:1475 ! lymphangioma is_a: DOID:235 ! colonic benign neoplasm created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:1066 name: residual stage of open angle glaucoma synonym: "open-angle glaucoma residual stage" EXACT [] xref: ICD10CM:H40.15 xref: ICD9CM:365.15 is_a: DOID:1067 ! open-angle glaucoma is_a: DOID:9007746 ! Glaucoma 1, Open Angle, O created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10660 name: mediastinum neuroblastoma def: "A malignant mediastinal neurogenic neoplasm that has_material_basis_in immature nerve cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=45418 "DO"] synonym: "neuroblastoma of mediastinum" EXACT [NCI2004_11_17:C6628] xref: EFO:1000367 xref: NCI:C6628 xref: RDO:9002771 is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10661 name: mediastinum ganglioneuroblastoma synonym: "ganglioneuroblastoma of mediastinum" EXACT [] xref: NCI:C6627 is_a: DOID:10660 ! mediastinum neuroblastoma is_a: DOID:4163 ! ganglioneuroblastoma is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1067 name: open-angle glaucoma def: "A glaucoma characterized by optic nerve damage resulting in progressive loss of visual field and increased pressure in the eye due to trabecular blockage. (DO)" [http://en.wikipedia.org/wiki/Glaucoma "DO", http://www.merckmanuals.com/professional/eye_disorders/glaucoma/primary_open-angle_glaucoma.html "DO"] synonym: "compensated glaucoma" EXACT [] synonym: "compensated glaucomas" EXACT [] synonym: "Compensative Glaucoma" EXACT [] synonym: "Compensative Glaucomas" EXACT [] synonym: "Glaucoma Simplex" EXACT [] synonym: "glaucoma simplices" EXACT [] synonym: "Open Angle Glaucomas" EXACT [] synonym: "Pigmentary Glaucoma" NARROW [] synonym: "Pigmentary Glaucomas" NARROW [] synonym: "Simple Glaucoma" EXACT [] synonym: "simple glaucomas" EXACT [] synonym: "wide-angle glaucoma" EXACT [] xref: EFO:0004190 xref: EFO:0021425 xref: ICD10CM:H40.1 xref: ICD9CM:365.1 xref: MESH:D005902 xref: NCI:C34641 is_a: DOID:1686 ! glaucoma [Term] id: DOID:1068 name: juvenile glaucoma alt_id: MIM:137750 def: "A primary open angle glaucoma early age of onset, rapidly progressive with more severely elevated and fluctuating intraocular pressures. (DO)" [https://eyewiki.aao.org/Juvenile_open_angle_glaucoma "DO", https://ghr.nlm.nih.gov/condition/early-onset-glaucoma "DO"] synonym: "Glaucoma 1, Open Angle, A" EXACT [] synonym: "GLAUCOMA 1, OPEN ANGLE, A, AUTOSOMAL RECESSIVE" NARROW [] synonym: "GLAUCOMA 1, OPEN ANGLE, A, DIGENIC" NARROW [] synonym: "glaucoma of childhood" EXACT [] synonym: "GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET, 1" NARROW [] synonym: "GLC1A" EXACT [] synonym: "GLC1L" NARROW [] synonym: "JOAG1 GLAUCOMA 1, OPEN ANGLE, L" NARROW [] synonym: "MYOC-related disorders" BROAD [] xref: MESH:C564234 xref: ORDO:98977 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1070 ! primary open angle glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:10685 name: separation anxiety disorder def: "An anxiety disorder that involves the feeling of excessive and inappropriate levels of anxiety over being separated from a person to whom the individual has a strong emotional attachment or place. (DO)" [http://en.wikipedia.org/wiki/Separation_anxiety_disorder "DO"] synonym: "separation anxiety" EXACT [] xref: EFO:1001916 xref: MESH:D001010 is_a: DOID:2030 ! anxiety disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:10686 name: lactocele def: "A breast cyst that develops during or shortly after lactation and is characterized by retention of milk or a milky substance that is usually located_in the mammary glands. (DO)" [https://en.wikipedia.org/wiki/Galactocele "DO"] synonym: "galactocele" EXACT [] synonym: "Galactocoele" EXACT [] synonym: "Galactocoele of childhood" EXACT [] synonym: "lacteal cyst" EXACT [] xref: ICD10CM:N64.89 xref: ICD9CM:611.5 xref: MESH:C535998 xref: NCI:C3515 is_a: DOID:10350 ! breast cyst [Term] id: DOID:10688 name: hypertrophy of breast def: "A breast disease that is characterized by the progressive, excessive enlargement of breast connective tissue. (DO)" [https://en.wikipedia.org/wiki/Breast_hypertrophy "DO"] synonym: "breasts enlarged" EXACT [] synonym: "large breast" EXACT [] xref: ICD9CM:611.1 xref: NCI:C3125 is_a: DOID:3463 ! breast disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10690 name: mastitis def: "A breast disease characterized by painful infection of the breast tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25940456 "DO"] synonym: "breast inflammation" EXACT [] synonym: "inflammatory breast disease" EXACT [] synonym: "inflammatory disease of breast" EXACT [] xref: EFO:1001034 xref: MESH:D008413 xref: NCI:C53662 is_a: DOID:3463 ! breast disease is_a: DOID:9001791 ! Puerperal Disorders [Term] id: DOID:10691 name: fat necrosis of breast def: "A breast disease that is characterized by the death of breast adipocytes, usually secondary to injury. (DO)" [https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/fat-necrosis-and-oil-cysts-in-the-breast.html "DO"] synonym: "breast fat necrosis" EXACT [] xref: ICD10CM:N64.1 xref: ICD9CM:611.3 xref: NCI:C3661 is_a: DOID:3463 ! breast disease is_a: DOID:9007691 ! Fat Necrosis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10697 name: chronic endophthalmitis xref: ICD9CM:360.03 xref: RDO:9003026 is_a: DOID:9724 ! purulent endophthalmitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10699 name: paragonimiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by flukes of the genus Paragonimus. In the acute phase, the symptoms are diarrhea, abdominal pain, fever, cough, urticaria, hepatosplenomegaly, pulmonary abnormalities, and eosinophilia. Pulmonary manifestations include cough, expectoration of discolored sputum, hemoptysis, and chest radiographic abnormalities. Various organs like brain, spleen and liver can be infected. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Paragonimiasis.htm "DO"] synonym: "Infection by Paragonimus" EXACT [] synonym: "lung fluke disease" EXACT [] synonym: "lung fluke infection" EXACT [] synonym: "Paragonimiases" EXACT [] synonym: "Paragonimus westermani Infection" EXACT [] synonym: "pulmonary paragonimiasis" EXACT [] xref: EFO:0007418 xref: GARD:9815 xref: ICD10CM:B66.4 xref: ICD9CM:121.2 xref: MESH:D010237 xref: NCI:C84995 is_a: DOID:2529 ! splenic disease is_a: DOID:409 ! liver disease is_a: DOID:888 ! fasciolopsiasis is_a: DOID:936 ! brain disease [Term] id: DOID:1070 name: primary open angle glaucoma alt_id: MIM:137760 alt_id: OMIA:001870 alt_id: OMIA:001976 def: "An open-angle glaucoma that is characterized by the absence of any apparent obstruction of aqueous outflow through the trabecular meshwork with gonioscopy, but often with elevated intraocular pressure. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5464971/ "DO"] synonym: "chronic simple glaucoma" EXACT [] synonym: "GLAUCOMA 1, OPEN ANGLE, E" NARROW [] synonym: "GLC1E" NARROW [] synonym: "POAG" EXACT [] synonym: "primary open angle glaucoma, ADAMTS10-related" NARROW [] synonym: "primary open angle glaucoma, adult-onset" NARROW [] xref: ICD10CM:H40.11 xref: ICD9CM:365.11 xref: MESH:C562750 xref: NCI:C35394 is_a: DOID:1067 ! open-angle glaucoma [Term] id: DOID:10718 name: giardiasis def: "A parasitic protozoa infectious disease that involves infection of the small intestine by a single-celled enteric protozoan parasite Giardia intestinalis. The symptoms include greasy and malodorous stools, diarrhea, abdominal pain, bloating, nausea, and vomiting. (DO)" [http://en.wikipedia.org/wiki/Giardiasis "DO", http://www.dpd.cdc.gov/DPDx/HTML/Giardiasis.htm "DO"] synonym: "beaver feaver" EXACT [] synonym: "giardiases" EXACT [] synonym: "infection by Giardia lamblia" EXACT [] synonym: "lambliases" EXACT [] synonym: "lambliasis" EXACT [] xref: ICD10CM:A07.1 xref: ICD9CM:007.1 xref: MESH:D005873 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9002892 ! Parasitic Intestinal Diseases [Term] id: DOID:10719 name: toxic diffuse goiter xref: EFO:0004237 xref: GARD:6549 xref: ICD9CM:242.00 xref: RDO:9003954 is_a: DOID:7998 ! hyperthyroidism created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:1073 name: renal hypertension def: "Persistent high BLOOD PRESSURE due to KIDNEY DISEASES, such as those involving the renal parenchyma, the renal vasculature, or tumors that secrete RENIN." [MESH:D006977] synonym: "renal hypertensions" EXACT [] xref: EFO:1002039 xref: MESH:D006977 xref: NCI:C3121 is_a: DOID:11130 ! secondary hypertension is_a: DOID:557 ! kidney disease [Term] id: DOID:1074 name: kidney failure def: "A kidney disease characterized by the failure of the kidneys to adequately filter waste products from the blood. (DO)" [http://en.wikipedia.org/wiki/Renal_failure "DO", http://www.nlm.nih.gov/medlineplus/kidneyfailure.html "DO"] synonym: "kidney failures" EXACT [] synonym: "Kidney Insufficiencies" EXACT [] synonym: "Kidney Insufficiency" EXACT [] synonym: "Renal Failure" EXACT [] synonym: "Renal Failures" EXACT [] synonym: "Renal Insufficiencies" EXACT [] synonym: "renal unsufficiency" EXACT [] xref: EFO:1002048 xref: ICD10CM:N19 xref: ICD9CM:586 xref: MESH:D051437 xref: NCI:C4376 is_a: DOID:557 ! kidney disease [Term] id: DOID:10742 name: cerebral lipidosis xref: ICD9CM:330.1 is_a: DOID:1443 ! cerebral degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10744 name: broad ligament malignant neoplasm def: "A uterine adnexa cancer that is located_in the broad ligament. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26140828 "DO"] synonym: "malignant neoplasm of broad ligament of uterus" EXACT [] xref: ICD10CM:C57.1 xref: ICD9CM:183.3 xref: NCI:C179934 is_a: DOID:11747 ! uterine adnexa cancer created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:10754 name: otitis media alt_id: MIM:166760 def: "A otitis which involves inflammation of the middle ear. (DO)" [http://en.wikipedia.org/wiki/Otitis_media "DO"] synonym: "A2ML1-RELATED CONDITION" EXACT [] synonym: "COME/ROM" EXACT [] synonym: "FAMILIAL OTITIS MEDIA" NARROW [] synonym: "Middle Ear Inflammation" EXACT [] synonym: "Nonsyndromic otitis media" NARROW [] synonym: "OMS" EXACT [] synonym: "OTITIS MEDIA, CHRONIC/RECURRENT" NARROW [] synonym: "OTITIS MEDIA, SUSCEPTIBILITY TO" RELATED [] synonym: "SUSCEPTIBILITY TO NONSYNDROMIC OTITIS MEDIA" RELATED [] xref: EFO:0004992 xref: ICD10CM:H66.9 xref: ICD9CM:382.9 xref: MESH:D010033 xref: NCI:C34885 is_a: DOID:5100 ! middle ear disease is_a: DOID:9007481 ! Otitis [Term] id: DOID:10755 name: petrositis def: "An osteomyelitis that has_material_basis_in infection located_in petrous part of temporal bone. (DO)" [http://medical-dictionary.thefreedictionary.com/petrositis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001254.htm "DO"] synonym: "acute petrositis" EXACT [] synonym: "chronic petrositis" EXACT [] synonym: "Gradenigo's Syndrome" EXACT [] synonym: "Gradenigo Lannois syndrome" EXACT [] synonym: "Gradenigos Syndrome" EXACT [] synonym: "Gradenigo Syndrome" EXACT [] synonym: "inflammation of petrous bone" RELATED [] synonym: "petrositides" EXACT [] synonym: "petrous apicitides" EXACT [] synonym: "petrous apicitis" EXACT [] xref: ICD10CM:H70.2 xref: ICD10CM:H70.21 xref: ICD10CM:H70.22 xref: ICD9CM:383.2 xref: ICD9CM:383.21 xref: ICD9CM:383.22 xref: MESH:D059270 xref: MONDO:0001109 is_a: DOID:1019 ! osteomyelitis is_a: DOID:10754 ! otitis media [Term] id: DOID:1076 name: chronic pyelonephritis xref: ICD10CM:N11 xref: ICD10CM:N11.9 xref: ICD9CM:590.0 xref: NCI:C123216 is_a: DOID:11400 ! pyelonephritis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10762 name: portal hypertension def: "Abnormal increase of resistance to blood flow within the hepatic PORTAL SYSTEM, frequently seen in LIVER CIRRHOSIS and conditions with obstruction of the PORTAL VEIN." [MESH:D006975] synonym: "Cruveilhier Baumgarten Syndrome" EXACT [] synonym: "NCPH" EXACT [] xref: EFO:0000666 xref: GARD:8229 xref: ICD10CM:K76.6 xref: ICD9CM:572.3 xref: MESH:D006975 xref: MIM:PS617068 xref: NCI:C3119 is_a: DOID:272 ! hepatic vascular disease [Term] id: DOID:10763 name: hypertension def: "An artery disease characterized by chronic elevated blood pressure in the arteries. (DO)" [https://en.wikipedia.org/wiki/Hypertension "DO", https://www.ncbi.nlm.nih.gov/pubmed/24352797 "DO"] synonym: "high blood pressure" EXACT [] synonym: "high blood pressures" EXACT [] synonym: "HTN" EXACT [] synonym: "hyperpiesia" EXACT [] synonym: "hypertensive disease" RELATED [] synonym: "increased aldosterone to renin ratio" RELATED [] synonym: "vascular hypertensive disorder" EXACT [] xref: EFO:0000537 xref: ICD9CM:401-405.99 xref: MESH:D006973 xref: NCI:C3117 is_a: DOID:0050828 ! artery disease [Term] id: DOID:10772 name: thrombotic thrombocytopenic purpura alt_id: MIM:274150 def: "An acquired, congenital, or familial disorder caused by PLATELET AGGREGATION with THROMBOSIS in terminal arterioles and capillaries. Clinical features include THROMBOCYTOPENIA; HEMOLYTIC ANEMIA; AZOTEMIA; FEVER; and thrombotic microangiopathy. The classical form also includes neurological symptoms and end-organ damage, such as RENAL FAILURE." [MESH:D011697] synonym: "ADAMTS13-RELATED CONDITION" EXACT [] synonym: "congenital microangiopathic hemolytic anemia" EXACT [] synonym: "congenital thrombotic thrombocytopenic purpura" EXACT [] synonym: "deficiency of Upshaw factor" EXACT [] synonym: "Familial Thrombotic Microangiopathy" EXACT [] synonym: "Familial Thrombotic Thrombocytopenia Purpura" EXACT [] synonym: "Familial Thrombotic Thrombocytopenic Purpura" EXACT [] synonym: "Familial thrombotic thrombocytopenic purpura / haemolytic uraemic syndrome" NARROW [] synonym: "Familial TTP/HUS" NARROW [] synonym: "hereditary thrombotic thrombocytopenic purpura" EXACT [] synonym: "hereditary thrombotic thrombocytopenic purpura, infantile- or adult-onset" EXACT [] synonym: "MICROANGIOPATHIC HEMOLYTIC ANEMIA" EXACT [] synonym: "Moschcowitz's syndrome" EXACT [] synonym: "Moschcowitz disease" EXACT [] synonym: "Moschkowitz disease" EXACT [] synonym: "thrombotic thrombocytopenic purpura, adult onset" NARROW [] synonym: "thrombotic thrombocytopenic purpura, chronic relapsing" NARROW [] synonym: "thrombotic thrombopenic purpura" EXACT [] synonym: "TTP" EXACT [] synonym: "Upshaw-Schulman syndrome" EXACT [] synonym: "USS" EXACT [] xref: GARD:9430 xref: ICD10CM:M31.19 xref: MESH:D011697 xref: NCI:C78797 is_a: DOID:2452 ! thrombophilia is_a: DOID:9005876 ! Thrombocytopenic Purpura [Term] id: DOID:10773 name: bubonic plague alt_id: DOID:0050068 def: "A plague that results_in infection located_in lymph node producing a bubo, which is an inflamed, necrotic, and hemorrhagic lymphoid tissue. The infection has_symptom enlarged, tender lymph nodes, has_symptom fever, has_symptom chills and has_symptom prostration. (DO)" [https://en.wikipedia.org/wiki/Bubonic_plague "DO"] synonym: "black death" EXACT [] synonym: "pestis minor" EXACT [] xref: GARD:183 xref: ICD10CM:A20.0 xref: ICD9CM:020.0 is_a: DOID:3482 ! plague is_a: DOID:9942 ! lymph node disease created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:10778 name: fiedler's myocarditis synonym: "fiedler myocarditis" EXACT [] synonym: "idiopathic myocarditis" EXACT [] synonym: "isolated (Fiedler's) myocarditis" EXACT [] xref: ICD10CM:I40.1 xref: ICD9CM:422.91 is_a: DOID:3951 ! acute myocarditis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10779 name: septic myocarditis def: "An acute myocarditis that is characterized by an underlying infectious insult to the myocardium that induces acute inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27574633 "DO"] xref: ICD10CM:I40.0 xref: ICD9CM:422.92 is_a: DOID:3951 ! acute myocarditis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10780 name: primary polycythemia def: "A polycythemia that has_material_basis_in factors intrinsic to red cell precursors. (DO)" [https://en.wikipedia.org/wiki/Polycythemia#Primary_polycythemia "DO"] synonym: "familial erythrocytosis" EXACT [] synonym: "familiar polycythemia" EXACT [] synonym: "HEMOGLOBIN JOHNSTOWN" RELATED [] synonym: "HEMOGLOBIN NEW MEXICO" RELATED [] synonym: "primary polycythemias" EXACT [] xref: ICD9CM:289.6 xref: MIM:PS133100 xref: NCI:C26955 xref: RDO:9002589 is_a: DOID:8432 ! polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:10782 name: mesenteric lymphadenitis def: "INFLAMMATION of LYMPH NODES in the MESENTERY." [MESH:D008640] synonym: "mesenteric adenitis" EXACT [] synonym: "mesenteric lymphadenitides" EXACT [] xref: ICD10CM:I88.0 xref: ICD9CM:289.2 xref: MESH:D008640 xref: NCI:C26830 is_a: DOID:1602 ! lymphadenitis is_a: DOID:9006175 ! Peritoneal Diseases [Term] id: DOID:10783 name: methemoglobinemia def: "The presence of methemoglobin in the blood, resulting in cyanosis. A small amount of methemoglobin is present in the blood normally, but injury or toxic agents convert a larger proportion of hemoglobin into methemoglobin, which does not function reversibly as an oxygen carrier. Methemoglobinemia may be due to a defect in the enzyme NADH methemoglobin reductase (an autosomal recessive trait) or to an abnormality in hemoglobin M (an autosomal dominant trait). (Dorland, 27th ed)" [MESH:D008708] synonym: "HEMOGLOBIN TUBINGEN" RELATED [] synonym: "methemoglobinemias" EXACT [] xref: ICD10CM:D74 xref: ICD9CM:289.7 xref: MESH:D008708 xref: NCI:C34817 is_a: DOID:2860 ! hemoglobinopathy [Term] id: DOID:10784 name: Queensland tick typhus def: "A spotted fever that has_material_basis_in Rickettsia australis, which is transmitted_by ticks (Ixodes holocyclus). The infection has_symptom fever, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash, and has_symptom lymphadenopathy. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#Rickettsia_australis_%28Queensland_tick_typhus%29 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Australian tick typhus" EXACT [] synonym: "North Queensland tick typhus" EXACT [] synonym: "Rickettsia australis spotted fever" EXACT [] is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:10787 name: premature menopause def: "An ovarian dysfunction that is the loss of normal ovarian function before age 40. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26316242 "DO"] synonym: "menopause praecox" EXACT [] xref: EFO:0009005 xref: ICD10CM:E28.31 xref: ICD9CM:256.31 xref: MESH:D008594 xref: NCI:C80099 is_a: DOID:1414 ! ovarian dysfunction [Term] id: DOID:1079 name: setariasis def: "A filariasis that involves parasitic infection of the abdomen in cattle, horses and sheep by nematodes of the genus Setaria. (DO)" [http://www.jstor.org/stable/pdfplus/3277411.pdf "DO"] synonym: "infectious disease by Setaria" EXACT [] synonym: "setariases" EXACT [] xref: EFO:0007482 xref: MESH:D012719 is_a: DOID:1080 ! filariasis is_a: DOID:9006372 ! Animal Helminthiasis [Term] id: DOID:10790 name: chronic frontal sinusitis def: "A frontal sinusitis which lasts for 12 weeks or more. This causes steady headache, localized tenderness and intermittent, purulent nasal and postnasal drainage. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] xref: ICD10CM:J32.1 xref: ICD9CM:473.1 xref: NCI:C34473 is_a: DOID:10791 ! frontal sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10791 name: frontal sinusitis def: "A sinusitis which involves infection of the frontal sinuses over the eyes in the brow area. This causes pain or pressure in the frontal sinus cavity and headache over the forehead. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO", http://www3.niaid.nih.gov/topics/sinusitis/overview.htm "DO"] synonym: "frontal sinusitides" EXACT [] xref: MESH:D015522 xref: NCI:C34626 is_a: DOID:0050127 ! sinusitis [Term] id: DOID:10792 name: chronic maxillary sinusitis def: "A maxillary sinusitis which lasts for 12 weeks or more. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] synonym: "chronic antritis" EXACT [] xref: ICD9CM:473.0 xref: NCI:C34477 is_a: DOID:2051 ! maxillary sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10793 name: chronic sphenoidal sinusitis def: "A sphenoid sinusitis which lasts for 12 weeks or more. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"] synonym: "Sphenoidal sinus-chr." EXACT [SNOMEDCT_2005_07_31:266384001] xref: ICD10CM:J32.3 xref: ICD9CM:473.3 xref: NCI:C34480 xref: RDO:9003990 is_a: DOID:10794 ! sphenoid sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:10794 name: sphenoid sinusitis def: "A sinusitis which involves infection of sphenoid sinuses that causes pain or pressure behind the eyes, but often refers to the vertex of the head. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"] synonym: "Sphenoidal Sinusitides" EXACT [] synonym: "Sphenoidal Sinusitis" EXACT [] synonym: "Sphenoid Sinusitides" EXACT [] xref: EFO:0007489 xref: MESH:D015524 xref: NCI:C35031 is_a: DOID:0050127 ! sinusitis is_a: DOID:0080001 ! bone disease [Term] id: DOID:1080 name: filariasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the lymphatics and subcutaneous tissue by nematodes of the superfamily Filarioidea. (DO)" [http://en.wikipedia.org/wiki/Filariasis "DO"] synonym: "disease due to superfamily Filarioidea" EXACT [] synonym: "elaeophoriases" EXACT [] synonym: "elaeophoriasis" EXACT [] synonym: "Filariases" EXACT [] synonym: "filarioidea infection" EXACT [] synonym: "filarioidea infections" EXACT [] xref: ICD10CM:B74 xref: ICD9CM:125.9 xref: MESH:D005368 xref: NCI:C34611 is_a: DOID:37 ! skin disease is_a: DOID:75 ! lymphatic system disease is_a: DOID:9003105 ! Spirurida Infections [Term] id: DOID:10802 name: acute gonococcal epididymo-orchitis synonym: "gonococcal epididymo-orchitis" EXACT [] xref: ICD9CM:098.13 is_a: DOID:7551 ! gonorrhea is_a: DOID:9401 ! epididymo-orchitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10808 name: gastric ulcer def: "Ulceration of the GASTRIC MUCOSA due to contact with GASTRIC JUICE. It is often associated with HELICOBACTER PYLORI infection or consumption of nonsteroidal anti-inflammatory drugs (NSAIDS)." [MESH:D013276] synonym: "acute gastric ulcer with haemorrhage and perforation" EXACT [] synonym: "acute gastric ulcer with hemorrhage and obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage and perforation" EXACT [] synonym: "acute gastric ulcer with hemorrhage and perforation, with obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage and perforation, without mention of obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage AND with perforation but without obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage, with obstruction" EXACT [] synonym: "acute gastric ulcer with hemorrhage, with perforation AND with obstruction" EXACT [] synonym: "acute gastric ulcer without hemorrhage and without perforation" EXACT [] synonym: "acute gastric ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] synonym: "acute gastric ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [] synonym: "acute gastric ulcer with perforation" EXACT [] synonym: "acute gastric ulcer with perforation AND obstruction" EXACT [] synonym: "acute gastric ulcer with perforation, with obstruction" EXACT [] synonym: "bleeding acute gastric ulcer" EXACT [] synonym: "chronic gastric ulcer without hemorrhage AND without perforation" EXACT [] synonym: "chronic gastric ulcer without hemorrhage AND without perforation but with obstruction" EXACT [] synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" EXACT [] synonym: "gastric ulcers" EXACT [] synonym: "Stomach Ulcer" EXACT [] synonym: "stomach ulcers" EXACT [] xref: EFO:0009454 xref: ICD10CM:K25 xref: ICD9CM:531 xref: MESH:D013276 xref: NCI:C3388 is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:1081 name: mansonelliasis def: "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies. (DO)" [http://en.wikipedia.org/wiki/Mansonelliasis "DO"] synonym: "Acanthocheilonema perstans Infection" EXACT [] synonym: "Acanthocheilonema perstans infections" EXACT [] synonym: "Dipetalonema perstans Infection" EXACT [] synonym: "Dipetalonema perstans Infections" EXACT [] synonym: "Mansonella perstans Infection" EXACT [] synonym: "Mansonella perstans Infections" EXACT [] synonym: "Mansonelliases" EXACT [] synonym: "Mansonelloses" EXACT [] synonym: "mansonellosis" EXACT [] xref: EFO:0007357 xref: GARD:8216 xref: ICD10CM:B74.4 xref: MESH:D008368 xref: NCI:C84882 is_a: DOID:1080 ! filariasis [Term] id: DOID:10810 name: tibialis tendinitis xref: ICD9CM:726.72 is_a: DOID:971 ! tendinitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10811 name: nasal cavity cancer def: "A respiratory system cancer that is located_in the nasal cavity. (DO)" [http://en.wikipedia.org/wiki/Nasal_cavity "DO"] synonym: "malignant neoplasm of nasal cavities" EXACT [] synonym: "malignant tumor of the nasal cavity" EXACT [] xref: ICD10CM:C30.0 xref: ICD9CM:160.0 xref: NCI:C4918 xref: RDO:9002281 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:2163 ! nasal cavity disease is_a: DOID:9006040 ! Sinonasal Neoplasms created_by: rgd creation_date: 2017-09-26T00:00:00Z [Term] id: DOID:10812 name: nasal cavity olfactory neuroblastoma synonym: "olfactory neuroblastoma of the nasal cavity" EXACT [] xref: NCI:C7604 is_a: DOID:10811 ! nasal cavity cancer is_a: DOID:369 ! olfactory neuroblastoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10813 name: nasal cavity lymphoma synonym: "lymphoma of nasal cavity" EXACT [] synonym: "lymphoma of the nasal cavity" EXACT [] xref: NCI:C6074 is_a: DOID:0060058 ! lymphoma is_a: DOID:10811 ! nasal cavity cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:10816 name: duodenum adenocarcinoma def: "A duodenum cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of duodenum" RELATED [] synonym: "duodenal adenocarcinoma" EXACT [] synonym: "EFO:1000223" EXACT [] xref: EFO:1000223 xref: NCI:C7889 is_a: DOID:10021 ! duodenum cancer is_a: DOID:4906 ! small intestine adenocarcinoma created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:10817 name: sexual sadism def: "A condition in which there is a derivation of pleasure from inflicting pain, discomfort or humiliation on another person or persons. The sexual significance of sadistic wishes or behavior may be conscious or unconscious." [MESH:D012448] synonym: "sadism" EXACT [] synonym: "sadisms" EXACT [] synonym: "sexual sadisms" EXACT [] xref: ICD10CM:F65.52 xref: ICD9CM:302.84 xref: MESH:D012448 xref: NCI:C94358 is_a: DOID:0060043 ! sexual health disorder is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:1082 name: dirofilariasis def: "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions. (DO)" [https://en.wikipedia.org/wiki/Dirofilariasis "DO"] synonym: "Dirofilaria infectious disease" EXACT [] synonym: "Dirofilariases" EXACT [] synonym: "Heartworm Disease" EXACT [] synonym: "infection by Dirofilaria" EXACT [] xref: EFO:0007239 xref: GARD:11908 xref: ICD10CM:B74.8 xref: MESH:D004184 is_a: DOID:1080 ! filariasis is_a: DOID:850 ! lung disease is_a: DOID:9006372 ! Animal Helminthiasis [Term] id: DOID:10823 name: malignant essential hypertension synonym: "accelerated essential hypertension" EXACT [] xref: ICD9CM:401.0 xref: NCI:C34802 is_a: DOID:10824 ! malignant hypertension is_a: DOID:10825 ! essential hypertension created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:10824 name: malignant hypertension def: "A hypertension that is characterized by rapid onset of extremely high blood pressure. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3118 "DO"] xref: EFO:1001031 xref: MESH:D006974 xref: NCI:C3118 is_a: DOID:10763 ! hypertension [Term] id: DOID:10825 name: essential hypertension alt_id: MIM:145500 alt_id: MIM:603918 alt_id: MIM:604329 alt_id: MIM:607329 alt_id: MIM:608742 alt_id: MIM:610261 alt_id: MIM:610262 alt_id: MIM:610948 alt_id: MIM:611014 def: "A hypertension with no known cause. It is the most common type of hypertension. (DO)" [http://en.wikipedia.org/wiki/Essential_hypertension "DO", http://www.merckmanuals.com/professional/cardiovascular_disorders/hypertension/overview_of_hypertension.html "DO"] synonym: "EHT" EXACT [] synonym: "ESSENTIAL HYPERTENSION, GENETIC" NARROW [] synonym: "essential hypertension, susceptibility to" RELATED [] synonym: "essential hypertension, susceptibility to, 1" RELATED [] synonym: "essential hypertension, susceptibility to, 2" RELATED [] synonym: "essential hypertension, susceptibility to, 3" RELATED [] synonym: "essential hypertension, susceptibility to, 4" RELATED [] synonym: "essential hypertension, susceptibility to, 5" RELATED [] synonym: "essential hypertension, susceptibility to, 6" RELATED [] synonym: "essential hypertension, susceptibility to, 7" RELATED [] synonym: "essential hypertension, susceptibility to, 8" RELATED [] synonym: "GNB3 POLYMORPHISM" RELATED [] synonym: "HYPERTENSION, ESSENTIAL, BODY MASS-RELATED" NARROW [] synonym: "HYPERTENSION, ESSENTIAL, KIDNEY FUNCTION-RELATED" NARROW [] synonym: "Hypertension, salt-sensitive essential, susceptibility to" RELATED [] synonym: "HYT1" RELATED [] synonym: "HYT2" RELATED [] synonym: "HYT3" RELATED [] synonym: "HYT4" RELATED [] synonym: "HYT5" RELATED [] synonym: "HYT6" RELATED [] synonym: "HYT7" RELATED [] synonym: "HYT8" RELATED [] synonym: "idiopathic hypertension" EXACT [] synonym: "primary hypertension" EXACT [] xref: EFO:1002032 xref: ICD10CM:I10 xref: ICD9CM:401 xref: MESH:D000075222 xref: MONDO:0001134 xref: NCI:C3478 xref: ORDO:243761 is_a: DOID:10763 ! hypertension [Term] id: DOID:10834 name: voyeurism def: "A paraphilia characterized by repetitive looking at unsuspecting people, usually strangers, who are either naked, in the act of disrobing, or engaging in sexual activity, as the method for achieving sexual excitement." [MESH:D014843] synonym: "Voyeurisms" EXACT [] xref: ICD10CM:F65.3 xref: ICD9CM:302.82 xref: MESH:D014843 xref: NCI:C94360 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:10835 name: chylocele of tunica vaginalis xref: ICD9CM:608.84 xref: RDO:9004645 is_a: DOID:48 ! male reproductive system disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:10841 name: Eastern equine encephalitis def: "A viral infectious disease that results in inflammation located in brain of horses and humans, has_material_basis_in Eastern equine encephalitis virus, which is transmitted by Aedes, transmitted by Coquillettidia, and transmitted by Culex species of mosquitoes. The infection has symptom sudden onset of headache, has symptom high fever, has symptom chills, has symptom vomiting, has symptom disorientation, has symptom seizures, and has symptom coma. (DO)" [http://www.cdc.gov/EasternEquineEncephalitis/index.html "DO", http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO", http://www.ncagr.gov/vet/FactSheets/EEE.htm "DO"] synonym: "Eastern Equine Encephalitides" EXACT [] synonym: "Eastern Equine Encephalomyelitides" EXACT [] synonym: "EEE" RELATED [] synonym: "neuroinvasive Eastern equine encephalitis virus infection" EXACT [] xref: EFO:0007242 xref: GARD:10821 xref: ICD10CM:A83.2 xref: ICD9CM:062.2 xref: MESH:D020242 is_a: DOID:9002578 ! Equine Encephalomyelitis is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:10842 name: Murray Valley encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in Murray Valley encephalitis virus, which is transmitted_by Culex annulirostris mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom drowsiness, has_symptom confusion, has_symptom fitting, and has_symptom weakness. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13007862 "DO"] synonym: "Australian encephalitis" EXACT [] synonym: "Australian X disease" EXACT [] xref: ICD10CM:A83.4 xref: ICD9CM:062.4 is_a: DOID:646 ! viral encephalitis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10843 name: Western equine encephalitis def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Western equine encephalomyelitis virus, which is transmitted_by Culex and transmitted_by Aedes species of mosquitoes. The infection has_symptom fever, has_symptom headache, has_symptom nausea, has_symptom vomiting, has_symptom anorexia, has_symptom malaise, has_symptom altered mental status, and has_symptom weakness. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO"] synonym: "WEE" RELATED [] xref: EFO:0007546 xref: GARD:7888 xref: ICD10CM:A83.1 xref: ICD9CM:062.1 xref: MESH:D020241 xref: NCI:C85227 is_a: DOID:9002578 ! Equine Encephalomyelitis [Term] id: DOID:10844 name: Japanese encephalitis def: "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO", http://www.cdc.gov/ncidod/dvbid/jencephalitis/qa.htm "DO"] synonym: "Japanese B Encephalitis" EXACT [] synonym: "Japanese B Viral Encephalitis" EXACT [] xref: EFO:0007332 xref: GARD:6797 xref: ICD10CM:A83.0 xref: ICD9CM:062.0 xref: MESH:D004672 xref: NCI:C34577 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:10845 name: St. Louis encephalitis def: "A viral infectious disease that results_in inflammation located_in brain, has_material_basis_in St. Louis encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions and has_symptom spastic paralysis. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO", http://www.cdc.gov/ncidod/dvbid/sle/Sle_FactSheet.html "DO"] synonym: "neuroinvasive St. Louis encephalitis virus infection" EXACT [] synonym: "Saint Louis Encephalitis" EXACT [] synonym: "St. Louis Meningoencephalitides" EXACT [] synonym: "St. Louis Meningoencephalitis" EXACT [] synonym: "St. Louis Viral Encephalitis" EXACT [] synonym: "Type C Lethargic Encephalitis" EXACT [] xref: EFO:0007495 xref: ICD10CM:A83.3 xref: ICD9CM:062.3 xref: MESH:D004674 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:10846 name: angiodysplasia of intestine xref: ICD9CM:569.84 xref: RDO:9004387 is_a: DOID:2494 ! angiodysplasia is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:10849 name: sexual masochism def: "Pleasure derived from being physically or psychologically abused, whether inflicted by oneself or by others. Masochism includes sexual masochism." [MESH:D008398] synonym: "masochism" EXACT [] synonym: "masochisms" EXACT [] synonym: "sexual masochisms" EXACT [] xref: ICD10CM:F65.51 xref: ICD9CM:302.83 xref: MESH:D008398 xref: NCI:C94356 is_a: DOID:0060043 ! sexual health disorder is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:1085 name: Edwards syndrome def: "A chromosomal duplciation syndrome that is characterized by slow growth before birth and a low birth weight and that has_material_basis_in three copies of chromosome 18. (DO)" [https://ghr.nlm.nih.gov/condition/trisomy-18 "DO"] synonym: "complete trisomy 18 syndrome" EXACT [] synonym: "E3 trisomy" EXACT [] synonym: "mosaic trisomy 18 syndrome" EXACT [] synonym: "trisomy 18" EXACT [] synonym: "trisomy 18 syndrome" EXACT [] synonym: "trisomy E syndrome" EXACT [] xref: ICD9CM:758.2 xref: MESH:D000073842 xref: NCI:C101362 xref: NCI:C36626 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:10852 name: middle ear cholesterol granuloma def: "A otitis media which is an expansile, inflammatory mass of granulation tissue in the middle ear. It is a foreign body reaction to cholesterol deposits that occur in obstructed fluid-filled air cells of the temporal bone. It is present with a conductive hearing loss and a blue eardrum. (DO)" [http://books.google.com/books?id=ZjbGu_NasbcC&pg=RA1-PA75&lpg#v=onepage&q=&f=false "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/16354369 "DO"] synonym: "cholesterin granuloma" EXACT [] synonym: "cholesterin granuloma of middle ear" EXACT [] xref: NCI:C3655 is_a: DOID:10754 ! otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10854 name: salivary gland disease def: "A mouth disease located_in the salivary gland. (DO)" [https://www.cedars-sinai.org/health-library/diseases-and-conditions/s/salivary-gland-disease-and-tumors.html "DO"] synonym: "non-neoplastic salivary gland disease" EXACT [] synonym: "salivary gland diseases" EXACT [] xref: EFO:0008581 xref: ICD9CM:527.8 xref: MESH:D012466 is_a: DOID:403 ! mouth disease [Term] id: DOID:10863 name: paralytic squint synonym: "Incomitant dissociation" EXACT [SNOMEDCT_2005_07_31:155195008] synonym: "Paralytic strabismus" EXACT [ICD9CM_2006:378.5] xref: EFO:0009678 xref: ICD10CM:H49 xref: ICD9CM:378.5 xref: RDO:9003352 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10864 name: partial third-nerve palsy synonym: "partial third-nerve palsies" EXACT [] synonym: "Third nerve palsy with pupil sparing" EXACT [SNOMEDCT_2005_07_31:194118007] synonym: "Third or oculomotor nerve palsy, partial" EXACT [ICD9CM_2006:378.51] xref: ICD9CM:378.51 is_a: DOID:10863 ! paralytic squint is_a: DOID:562 ! third cranial nerve disease [Term] id: DOID:10865 name: abducens nerve palsy alt_id: DOID:9002293 def: "A cranial nerve palsy characterized by lateral rectus muscle weakness resulting from damage to the abducens (sixth cranial) nerve. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35356946/ "DO", https://www.aapos.org/glossary/sixth-nerve-palsy "DO", https://www.ncbi.nlm.nih.gov/books/NBK482177/ "DO"] synonym: "6th Nerve Palsies" EXACT [] synonym: "6th Nerve Palsy" EXACT [] synonym: "abducens nerve disease" EXACT [] synonym: "Abducens Nerve Diseases" EXACT [] synonym: "abducens nerve disorder" EXACT [] synonym: "Abducens Nerve Palsies" EXACT [] synonym: "abducens nerve weakness" EXACT [] synonym: "Abducens Palsy" EXACT [] synonym: "Abducens Palsy, Childhood, Benign Recurrent" EXACT [] synonym: "Benign Recurrent Abducens Palsy, Children" EXACT [] synonym: "Benign Recurrent Abducens Palsy of Childhood" EXACT [] synonym: "Cranial Nerve VI Diseases" EXACT [] synonym: "Cranial Nerve VI Palsy" EXACT [] synonym: "disorder of abducent nerve" EXACT [] synonym: "Lateral rectus muscle denervation paresis" EXACT [] synonym: "lateral rectus muscle innervation disorder" EXACT [] synonym: "Lateral Rectus Palsies" EXACT [] synonym: "Lateral Rectus Palsy" EXACT [] synonym: "Nerve Palsies, VI" EXACT [] synonym: "Sixth Cranial Nerve Diseases" EXACT [] synonym: "sixth cranial nerve disorder" EXACT [] synonym: "Sixth Cranial Nerve Disorders" EXACT [] synonym: "Sixth Cranial Nerve Palsy" EXACT [] synonym: "Sixth Nerve Palsies" EXACT [] synonym: "Sixth Nerve Palsy" EXACT [] synonym: "VI Nerve Palsy" EXACT [] synonym: "VIth Cranial Nerve Diseases" EXACT [] synonym: "VIth nerve disorder" EXACT [] synonym: "VIth nerve paralysis" EXACT [] xref: GARD:9482 xref: MESH:D020434 xref: MIM:100200 xref: NCI:C27592 xref: NCI:C27593 is_a: DOID:3817 ! cranial nerve palsy [Term] id: DOID:10866 name: total third-nerve palsy synonym: "Third nerve palsy with pupil involved" EXACT [SNOMEDCT_2005_07_31:194119004] synonym: "Third or oculomotor nerve palsy, total" EXACT [ICD9CM_2006:378.52] synonym: "total oculomotor nerve palsy" EXACT [] synonym: "total third-nerve palsies" EXACT [] xref: ICD9CM:378.52 is_a: DOID:10863 ! paralytic squint is_a: DOID:562 ! third cranial nerve disease [Term] id: DOID:10869 name: fourth cranial nerve palsy alt_id: MIM:136480 synonym: "familial congenital fourth cranial nerve palsy" EXACT [] synonym: "familial congenital trochlear nerve palsy" EXACT [] synonym: "fourth nerve palsies" EXACT [] synonym: "fourth nerve palsy" EXACT [] synonym: "fourth or trochlear nerve palsy" EXACT [] synonym: "Strabismus from Superior Oblique Palsy" EXACT [] synonym: "Superior Oblique Oculomotor Palsy, Familial Congenital" EXACT [] synonym: "trochlear nerve palsies" EXACT [] synonym: "trochlear nerve palsy" EXACT [] xref: MESH:C565007 is_a: DOID:10863 ! paralytic squint is_a: DOID:13864 ! trochlear nerve disease is_a: DOID:3817 ! cranial nerve palsy [Term] id: DOID:10871 name: age related macular degeneration def: "A degeneration of macula and posterior pole that is characterized by a loss of vision in the center of the visual field (the macula) resulting from damage to the retina and resulting in blurring of the sharp central vision. (DO)" [http://en.wikipedia.org/wiki/Macular_degeneration "DO"] synonym: "age related maculopathies" EXACT [] synonym: "age related maculopathy" EXACT [] synonym: "senile macular degeneration" EXACT [] synonym: "senile macular retinal degeneration" EXACT [] xref: EFO:0001365 xref: ICD10CM:H35.30 xref: ICD9CM:362.50 xref: MIM:PS603075 xref: NCI:C84391 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2007 ! degeneration of macula and posterior pole created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:10873 name: Kuhnt-Junius degeneration def: "A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision." [MESH:D057135] synonym: "exudative age-related macular degeneration" EXACT [] synonym: "Exudative Macular Degeneration" EXACT [] synonym: "Exudative senile macular degeneration of retina" EXACT [ICD9CM_2006:362.52] synonym: "Neovascular Age-Related Macular Degeneration" EXACT [] synonym: "Senile macular degeneration, wet" EXACT [MTHICD9_2006:362.52] synonym: "Wet Macular Degeneration" EXACT [] synonym: "Wet Macular Degenerations" EXACT [] synonym: "Wet senile macular retinal degeneration" EXACT [SNOMEDCT_2005_07_31:16018000] xref: EFO:0004683 xref: ICD10CM:H35.32 xref: ICD9CM:362.52 xref: MESH:D057135 xref: RDO:0007784 is_a: DOID:2007 ! degeneration of macula and posterior pole is_a: DOID:4448 ! macular degeneration [Term] id: DOID:1088 name: meningocele def: "A spina bifida that is characterized by herniation of the meninges between the vertebrae. (DO)" [https://en.wikipedia.org/wiki/Spina_bifida#Meningocele "DO"] synonym: "Acquired Meningocele" EXACT [] synonym: "acquired meningoceles" EXACT [] synonym: "herniation of meninges" EXACT [] synonym: "Meningeal Herniation" EXACT [] synonym: "meningeal herniations" EXACT [] synonym: "Meninges Herniation" EXACT [] synonym: "meninges herniations" EXACT [] synonym: "Meningoceles" EXACT [] synonym: "rudimentary meningocele" EXACT [] synonym: "rudimentary meningoceles" EXACT [] synonym: "traumatic meningocele" EXACT [] synonym: "traumatic meningoceles" EXACT [] xref: MESH:D008588 is_a: DOID:0080016 ! spina bifida is_a: DOID:1283 ! enterocele [Term] id: DOID:10880 name: iliac vein thrombophlebitis synonym: "phlebitis and thrombophlebitis of the iliac vein" EXACT [] xref: ICD10CM:I80.21 xref: ICD9CM:451.81 is_a: DOID:3875 ! thrombophlebitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10881 name: hand, foot and mouth disease def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human coxsackievirus A16 or has_material_basis_in Human enterovirus 71, which are transmitted_by contaminated fomites, and transmitted_by contact with nose and throat secretions, saliva, blister fluid and stool of infected persons. The infection has_symptom fever, has_symptom poor appetite, has_symptom malaise, has_symptom sore throat, has_symptom painful sores in the mouth, and has_symptom skin rash on the palms of the hands and soles of the feet. (DO)" [http://www.cdc.gov/ncidod/dvrd/revb/enterovirus/hfhf.htm "DO"] synonym: "Hand, Foot, Mouth Disease" EXACT [] synonym: "vesicular stomatitis and exanthem" EXACT [] xref: EFO:0007294 xref: ICD10CM:B08.4 xref: ICD9CM:074.3 xref: MESH:D006232 xref: NCI:C128439 is_a: DOID:9000220 ! Coxsackievirus Infections is_a: DOID:934 ! viral infectious disease [Term] id: DOID:10882 name: epidemic pleurodynia def: "A viral infectious disease that results in necrosis located in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has symptom severe chest pain, has symptom fever, has symptom malaise, has symptom pleuritis, and has symptom headache. (DO)" [https://www.merckmanuals.com/professional/infectious-diseases/enteroviruses/epidemic-pleurodynia "DO"] synonym: "Bamble disease" EXACT [] synonym: "Bornholm Disease" EXACT [] synonym: "devil's grip" EXACT [] synonym: "Epidemic Myalgia" EXACT [] synonym: "Epidemic Myalgias" EXACT [] synonym: "epidemic myositis" EXACT [] synonym: "epidemic pleurisy" EXACT [] synonym: "Epidemic Pleurodynias" EXACT [] xref: EFO:0007259 xref: ICD10CM:B33.0 xref: ICD9CM:074.1 xref: MESH:D011000 is_a: DOID:66 ! muscle tissue disease is_a: DOID:9000220 ! Coxsackievirus Infections [Term] id: DOID:10883 name: herpangina def: "A viral infectious disease that results in infection located in mouth, has_material_basis_in Human coxsackievirus A16, Human enterovirus 71, group B coxsackievirus, or echoviruses, which are transmitted by ingestion of food contaminated with feces, transmitted by contact with pharyngeal secretions, or transmitted by droplet spread of oronasal secretions. The infection has symptom fever, has symptom sore throat, and has symptom lesions in the back area of the mouth, particularly the soft palate or tonsillar pillars. (DO)" [http://en.wikipedia.org/wiki/Herpangina "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000969.htm "DO"] synonym: "herpanginas" EXACT [] synonym: "vesicular pharyngitis" EXACT [] xref: EFO:0007306 xref: ICD10CM:B08.5 xref: ICD9CM:074.0 xref: MESH:D006557 is_a: DOID:10456 ! tonsillitis is_a: DOID:403 ! mouth disease is_a: DOID:9000220 ! Coxsackievirus Infections is_a: DOID:9006823 ! Echovirus Infections [Term] id: DOID:10887 name: lepromatous leprosy def: "A leprosy that results in early cutaneous lesions which consist of pale macules that are small, diffuse, and symmetric. This form of leprosy is characterized by hypoesthesia over extensor surfaces of the distal extremities, alopecia affecting lateral aspects of the eyebrows, saddle-nose deformity and oral lepromas. (DO)" [https://www.amjmed.com/article/S0002-9343(17)30612-5/fulltext "DO"] synonym: "cutaneous leprosies" EXACT [] synonym: "Cutaneous Leprosy" EXACT [] synonym: "lepromatous leprosies" EXACT [] synonym: "nodular leprosies" EXACT [] synonym: "nodular leprosy" EXACT [] synonym: "type L leprosy" EXACT [] xref: EFO:0001057 xref: ICD10CM:A30.5 xref: ICD9CM:030.0 xref: MESH:D015440 is_a: DOID:1024 ! leprosy is_a: DOID:9005723 ! Multibacillary Leprosy [Term] id: DOID:1089 name: tethered spinal cord syndrome synonym: "occult spinal dysraphism" EXACT [] synonym: "occult spinal dysraphisms" EXACT [] synonym: "occult spinal dysraphism sequence" EXACT [] synonym: "tethered cord syndrome" EXACT [] synonym: "tethered cord syndromes" EXACT [] xref: EFO:1001210 xref: GARD:4018 xref: NCI:C99080 is_a: DOID:0080073 ! spina bifida occulta is_a: DOID:225 ! syndrome is_a: DOID:319 ! spinal cord disease created_by: rgd creation_date: 2017-12-11T00:00:00Z [Term] id: DOID:10892 name: hypospadias def: "A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum. (DO)" [http://en.wikipedia.org/wiki/Hypospadias "DO", http://ghr.nlm.nih.gov/glossary=hypospadias "DO"] synonym: "familial hypospadias" EXACT [] synonym: "hypospadia" EXACT [] xref: EFO:0004209 xref: ICD10CM:Q54 xref: MESH:D007021 xref: MIM:PS300633 xref: NCI:C40341 xref: ORDO:440 is_a: DOID:0080015 ! physical disorder is_a: DOID:1529 ! penile disease is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:10907 name: microcephaly def: "A congenital nervous system abnormality that is characterized by a significantly smaller than normal head in infants. (DO)" [https://en.wikipedia.org/wiki/Microcephaly "DO"] synonym: "Classical primary microcephaly" NARROW [] synonym: "Congenital microcephaly" EXACT [] synonym: "Microcephalies" EXACT [] synonym: "microcephalus" EXACT [] synonym: "microencephaly" EXACT [] synonym: "PRIMARY MICROCEPHALY, RECESSIVE" NARROW [] synonym: "PROGRESSIVE MICROCEPHALY" NARROW [] synonym: "Severe Congenital Microcephalies" EXACT [] synonym: "Severe Congenital Microcephaly" EXACT [] xref: GARD:3603 xref: GARD:7038 xref: ICD10CM:Q02 xref: ICD9CM:742.1 xref: MESH:D008831 xref: NCI:C85874 is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9005611 ! Malformations of Cortical Development, Group I is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:10908 name: hydrocephalus alt_id: MIM:236600 alt_id: MIM:236635 def: "A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head. (DO)" [http://en.wikipedia.org/wiki/Hydrocephalus "DO", http://ghr.nlm.nih.gov/glossary=hydrocephalus "DO", http://www.mayoclinic.org/diseases-conditions/hydrocephalus/basics/definition/con-20030706?_ga=1.124310025.2017809229.1415219956 "DO"] synonym: "aqueductal stenoses" EXACT [] synonym: "aqueductal stenosis" EXACT [] synonym: "CCDC88C-RELATED CONDITION" BROAD [] synonym: "cerebral ventriculomegalies" EXACT [] synonym: "Cerebral Ventriculomegaly" EXACT [] synonym: "Congenital Hydrocephalus" EXACT [] synonym: "fetal cerebral ventriculomegalies" EXACT [] synonym: "fetal cerebral ventriculomegaly" EXACT [] synonym: "HYC1" EXACT [] synonym: "hydrocephalus ex vacuo" EXACT [] synonym: "hydrocephalus ex-vacuos" EXACT [] synonym: "hydrocephalus, X-linked" EXACT [] synonym: "hydrocephaly" EXACT [] synonym: "nonsyndromic hydrocephalus, autosomal recessive" EXACT [OMIM:236600] synonym: "nonsyndromic hydrocephalus, autosomal recessive 1" EXACT [] synonym: "post traumatic hydrocephalus" EXACT [] synonym: "SEVERE HYDROCEPHALUS" NARROW [] synonym: "ventriculomegaly" EXACT [] xref: GARD:6682 xref: ICD10CM:G91 xref: MESH:D006849 xref: MIM:PS236600 xref: NCI:C3111 xref: NCI:C98876 xref: ORDO:2182 xref: ORDO:2185 is_a: DOID:1443 ! cerebral degeneration [Term] id: DOID:1091 name: tooth disease def: "A mouth disease located_in the teeth. (DO)" [https://medlineplus.gov/toothdisorders.html "DO"] synonym: "teeth disease" EXACT [] synonym: "tooth diseases" EXACT [] xref: EFO:1001216 xref: MESH:D014076 is_a: DOID:403 ! mouth disease is_a: DOID:9001349 ! Stomatognathic Diseases [Term] id: DOID:10913 name: benign essential hypertension xref: ICD9CM:401.1 xref: NCI:C3656 is_a: DOID:10825 ! essential hypertension created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:10914 name: amnestic disorder def: "A cognitive disorder where the memory is disturbed or lost and involves the loss of memories previously established, loss of the ability to create new memories, or loss of the ability to learn new information. (DO)" [http://en.wikipedia.org/wiki/Amnesia "DO", http://www.minddisorders.com/A-Br/Amnestic-disorders.html "DO"] synonym: "amnesia" EXACT [] synonym: "Amnesia Memory Loss" EXACT [] synonym: "amnesias" EXACT [] synonym: "Amnestic State" EXACT [] synonym: "amnestic states" EXACT [] synonym: "amnestic syndrome" EXACT [] synonym: "Global Amnesia" EXACT [] synonym: "global amnesias" EXACT [] synonym: "Hysterical Amnesia" EXACT [] synonym: "Hysterical Amnesias" EXACT [] synonym: "Korsakoff's psychosis or syndrome" EXACT [] synonym: "Tactile Amnesia" EXACT [] synonym: "Tactile Amnesias" EXACT [] synonym: "temporary amnesia" EXACT [] synonym: "temporary amnesias" EXACT [] xref: EFO:1001454 xref: ICD10CM:R41.3 xref: ICD9CM:294.0 xref: MESH:D000647 xref: NCI:C2867 is_a: DOID:1561 ! cognitive disorder is_a: DOID:9008023 ! Memory Disorders [Term] id: DOID:10915 name: Wernicke-Korsakoff syndrome alt_id: MIM:277730 def: "A nutritional deficiency disease that is characterized by ophthalmoplegia, ataxia, change in mental status and acute onset of severe memory impairment without any dysfunction in intellectual abilities, and has_material_basis_in thiamine deficiency. (DO)" [https://en.wikipedia.org/wiki/Wernicke%E2%80%93Korsakoff_syndrome "DO"] synonym: "ALCOHOL-INDUCED ENCEPHALOPATHY" EXACT [] synonym: "Korsakoff's psychosis" EXACT [] synonym: "Korsakoff's syndrome" EXACT [] synonym: "Korsakoff psychoses" EXACT [] synonym: "Korsakoff Psychosis" EXACT [] synonym: "Korsakoff syndrome" EXACT [] synonym: "Korsakov's psychosis" EXACT [] synonym: "Korsakov psychosis" EXACT [] synonym: "transketolase defect" EXACT [] synonym: "Wernicke-Korsakoff syndromes" EXACT [] xref: EFO:1001242 xref: MESH:D020915 xref: NCI:C35764 xref: NCI:C84803 is_a: DOID:0070313 ! thiamine deficiency disease is_a: DOID:9008023 ! Memory Disorders is_a: DOID:9008602 ! Alcohol Amnestic Disorder [Term] id: DOID:10921 name: Siberian tick typhus def: "A spotted fever that has_material_basis_in Rickettsia sibirica, which is transmitted_by ticks (Dermacentor nuttalli, Dermacentor marginatus and Haemaphysalis concinna). The infection has_symptom fever, has_symptom eschar, has_symptom regional adenopathy, and has_symptom maculopapular rash. (DO)" [http://cmr.asm.org/cgi/content/full/18/4/719#%27%27Rickettsia_sibirica_subsp._sibirica%27%27_%28Siberian_tick_typhus_or_North_Asian_tick_typhus%29 "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "manchurian typhus" EXACT [] synonym: "North Asian tick fever" EXACT [] synonym: "North Asian tick typhus" EXACT [] synonym: "Rickettsia sibirica spotted fever" EXACT [] xref: ICD10CM:A77.2 xref: ICD9CM:082.2 is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:10923 name: sickle cell anemia def: "A sickle cell disease that is characterized by the replacement of both of the beta-globin subunits in hemoglobin with hemoglobin S, resulting in a low number of red blood cells, repeated infections, and periodic episodes of pain. (DO)" [https://en.wikipedia.org/wiki/Sickle_cell_disease "DO", https://ghr.nlm.nih.gov/condition/sickle-cell-disease "DO", https://www.nhlbi.nih.gov/health-topics/sickle-cell-disease "DO"] synonym: "drepanocytosis" EXACT [] synonym: "haemoglobin SC disease" EXACT [] synonym: "HbS disease" EXACT [] synonym: "HbSS disease" EXACT [] synonym: "Hb-SS disease without crisis" EXACT [] synonym: "hemoglobin Chori" RELATED [] synonym: "HEMOGLOBIN D (IRAN)" RELATED [] synonym: "HEMOGLOBIN KORLE-BU" RELATED [] synonym: "Hemoglobin Quebec-Chori" RELATED [] synonym: "HEMOGLOBIN ROCKFORD" RELATED [] synonym: "hemoglobin S disease" EXACT [] synonym: "hemoglobin S diseases" EXACT [] synonym: "hemoglobin S disease without crisis" EXACT [] synonym: "homozygous sickle cell disease" EXACT [] synonym: "sickle-cell/Hb-C disease without crisis" EXACT [] synonym: "sickle cell anaemia" EXACT [] synonym: "sickle cell anemias" EXACT [] synonym: "sickle cell disease" EXACT [] synonym: "sickle cell diseases" EXACT [] synonym: "sickle cell disorder" EXACT [] synonym: "sickle cell disorders" EXACT [] synonym: "sickling disorder due to hemoglobin S" EXACT [] xref: EFO:0000697 xref: GARD:8614 xref: ICD10CM:D57.1 xref: ICD10CM:D57.2 xref: ICD9CM:282.6 xref: ICD9CM:282.63 xref: MESH:D000755 xref: MONDO:0011382 xref: NCI:C34383 xref: NCI:C34676 xref: ORDO:232 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081445 ! sickle cell disease is_a: DOID:2860 ! hemoglobinopathy is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:10927 name: gastrojejunal ulcer synonym: "acute gastrojejunal ulcer with hemorrhage" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage AND obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage AND perforation" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage and perforation, with obstruction" EXACT [] synonym: "acute gastrojejunal ulcer, with hemorrhage, with obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with hemorrhage, with perforation AND with obstruction" EXACT [] synonym: "acute gastrojejunal ulcer without hemorrhage AND without perforation" EXACT [] synonym: "acute gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] synonym: "acute gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with perforation" EXACT [] synonym: "acute gastrojejunal ulcer with perforation AND obstruction" EXACT [] synonym: "acute gastrojejunal ulcer with perforation, with obstruction" EXACT [] synonym: "chronic gastrojejunal ulcer without hemorrhage AND without perforation" EXACT [] synonym: "chronic gastrojejunal ulcer without hemorrhage, without perforation AND without obstruction" EXACT [] synonym: "chronic gastrojejunal ulcer without mention of hemorrhage or perforation, without mention of obstruction" EXACT [] xref: ICD10CM:K28.0 xref: ICD9CM:534.0 is_a: DOID:750 ! peptic ulcer disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:10930 name: borderline personality disorder def: "A personality disorder that involves a prolonged disturbance of personality function characterized by depth and variability of moods. (DO)" [http://en.wikipedia.org/wiki/Borderline_personality_disorder "DO"] synonym: "Borderline Personality Disorders" EXACT [] xref: EFO:0005429 xref: ICD10CM:F60.3 xref: ICD9CM:301.83 xref: MESH:D001883 xref: NCI:C92633 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10931 name: dependent personality disorder def: "A personality disorder that is characterized by a pervasive psychological dependence on other people. (DO)" [http://en.wikipedia.org/wiki/Dependent_personality_disorder "DO"] synonym: "dependent personality disorders" EXACT [] synonym: "passive dependent personality" EXACT [] xref: ICD10CM:F60.7 xref: ICD9CM:301.6 xref: MESH:D003859 xref: NCI:C92637 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10932 name: obsessive-compulsive personality disorder def: "A personality disorder that is characterized by a pervasive pattern of preoccupation with orderliness, perfectionism, and mental and interpersonal control at the expense of flexibility, openness, and efficiency. (DO)" [http://en.wikipedia.org/wiki/Obsessive%E2%80%93compulsive_personality_disorder "DO"] synonym: "Anankastic personality disorder" RELATED [SNOMEDCT_2005_07_31:191762008] synonym: "compulsive personalities" EXACT [] synonym: "Compulsive Personality" EXACT [] synonym: "compulsive personality disorder" EXACT [] synonym: "Compulsive Personality Disorders" EXACT [] synonym: "obsessional personality" RELATED [] synonym: "Obsessive-Compulsive Personalities" EXACT [] synonym: "obsessive-compulsive personality" EXACT [] synonym: "OCPD" EXACT [] xref: ICD10CM:F60.5 xref: ICD9CM:301.4 xref: MESH:D003193 xref: NCI:C92638 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10933 name: obsessive-compulsive disorder alt_id: MIM:164230 def: "An anxiety disorder that involves unwanted and repeated thoughts, feelings, ideas, sensations (obsessions), or behaviors that make them feel driven to do something (compulsions). (DO)" [https://www.nimh.nih.gov/health/topics/obsessive-compulsive-disorder-ocd/index.shtml "DO"] synonym: "anancastic neurosis" EXACT [] synonym: "anankastic personalities" EXACT [] synonym: "anankastic personality" EXACT [] synonym: "increased/decreased serotonin transporter activity" RELATED [] synonym: "obsessive-compulsive disorder, protection against" RELATED [] synonym: "Obsessive-Compulsive Disorders" EXACT [] synonym: "obsessive-compulsive disorder, susceptibility to" RELATED [] synonym: "obsessive-compulsive neuroses" EXACT [] synonym: "obsessive-compulsive neurosis" EXACT [] synonym: "OCD" EXACT [] xref: EFO:0004242 xref: ICD10CM:F42 xref: ICD9CM:300.3 xref: MESH:D009771 xref: NCI:C88411 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:10934 name: multiple personality disorder def: "A dissociative disorder that involves the simultaneous display of multiple distinct identities or personalities. (DO)" [http://en.wikipedia.org/wiki/Dissociative_identity_disorder "DO"] synonym: "Dissociative Identity Disorder" EXACT [] synonym: "dual personalities" EXACT [] synonym: "Dual Personality" EXACT [] synonym: "Multiple Identity Disorder" EXACT [] synonym: "multiple identity disorders" EXACT [] synonym: "Multiple Personalities" EXACT [] synonym: "Multiple Personality" EXACT [] synonym: "Multiple Personality Disorders" EXACT [] xref: ICD10CM:F44.81 xref: ICD9CM:300.14 xref: MESH:D009105 xref: NCI:C94330 is_a: DOID:10935 ! dissociative disorder [Term] id: DOID:10935 name: dissociative disorder def: "A disease of mental health in which the normally well-integrated functions of memory, identity, perception, or consciousness are separated (dissociated). (DO)" [https://www.mayoclinic.org/diseases-conditions/dissociative-disorders/symptoms-causes/syc-20355215 "DO"] synonym: "dissociation" EXACT [] synonym: "dissociative disease" EXACT [] synonym: "dissociative disorders" EXACT [] synonym: "Dissociative Hysteria" EXACT [] synonym: "dissociative hysterias" EXACT [] synonym: "Dissociative Reaction" EXACT [] synonym: "dissociative reactions" EXACT [] synonym: "fugue" EXACT [] xref: ICD10CM:F44.9 xref: ICD9CM:300.15 xref: ICD9CM:300.9 xref: MESH:D004213 xref: NCI:C92197 is_a: DOID:150 ! disease of mental health [Term] id: DOID:10936 name: schizoid personality disorder def: "A personality disorder that is characterized by a lack of interest in social relationships, a tendency towards a solitary lifestyle, secretiveness, emotional coldness and sometimes sexual apathy, with a simultaneous rich, elaborate and exclusively internal fantasy world. (DO)" [http://en.wikipedia.org/wiki/Schizoid_personality_disorder "DO"] synonym: "schizoid personalities" EXACT [] synonym: "Schizoid Personality" EXACT [] synonym: "schizoid personality disorders" EXACT [] xref: ICD10CM:F60.1 xref: ICD9CM:301.2 xref: MESH:D012557 xref: NCI:C92631 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10937 name: impulse control disorder def: "A disease of mental health that involves a failure to resist an impulsive act or behaviour that may be harmful to self or others. (DO)" [https://en.wikipedia.org/wiki/Impulse_control_disorder "DO"] synonym: "disruptive, impulse control, and conduct disorders" EXACT [] xref: ICD10CM:F63.9 xref: ICD9CM:312.30 xref: MESH:D007174 xref: MONDO:0001162 xref: NCI:C34723 is_a: DOID:150 ! disease of mental health [Term] id: DOID:10938 name: paranoid personality disorder def: "A personality disorder that is characterized by paranoia and a pervasive, long-standing suspiciousness and generalized mistrust of others. (DO)" [http://en.wikipedia.org/wiki/Paranoid_personality_disorder "DO"] synonym: "paranoid personalities" EXACT [] synonym: "paranoid personality" EXACT [] synonym: "paranoid personality disorders" EXACT [] xref: ICD10CM:F60.0 xref: ICD9CM:301.0 xref: MESH:D010260 xref: NCI:C92630 is_a: DOID:1510 ! personality disorder [Term] id: DOID:10939 name: antisocial personality disorder def: "A personality disorder that involves a pervasive pattern of disregard for, and violation of, the rights of others that begins in childhood or early adolescence and continues into adulthood. (DO)" [http://en.wikipedia.org/wiki/Antisocial_personality_disorder "DO"] synonym: "antisocial behavior" EXACT [] synonym: "Antisocial Behavior Following Childhood Maltreatment, Susceptibility To" EXACT [] synonym: "Antisocial Personalities" EXACT [] synonym: "Antisocial Personality" EXACT [] synonym: "Antisocial Personality Disorders" EXACT [] synonym: "asocial personality" EXACT [] synonym: "dissocial personality disorder" EXACT [] synonym: "Dyssocial Behavior" EXACT [] synonym: "Dyssocial Behaviors" EXACT [] synonym: "psychopath.personality" EXACT [] synonym: "Psychopathic Personalities" EXACT [] synonym: "Psychopathic Personality" EXACT [] synonym: "psychopathic personality disorder" EXACT [] synonym: "Sociopathic Personalities" EXACT [] synonym: "Sociopathic Personality" EXACT [] xref: EFO:0004890 xref: ICD10CM:F60.2 xref: ICD9CM:301.7 xref: MESH:D000987 xref: NCI:C88413 is_a: DOID:1510 ! personality disorder [Term] id: DOID:1094 name: attention deficit hyperactivity disorder alt_id: MIM:143465 alt_id: MIM:608903 alt_id: MIM:608904 alt_id: MIM:608905 alt_id: MIM:608906 alt_id: MIM:612311 alt_id: MIM:612312 def: "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age. (DO)" [http://en.wikipedia.org/wiki/Attention-Deficit_Hyperactivity_Disorder "DO", https://www.genome.gov/Genetic-Disorders/Attention-Deficit-Hyperactivity-Disorder "DO"] synonym: "ADDH" EXACT [] synonym: "ADHD" EXACT [] synonym: "ADHD1" RELATED [] synonym: "ADHD2" RELATED [] synonym: "ADHD3" RELATED [] synonym: "ADHD4" RELATED [] synonym: "ADHD5" RELATED [] synonym: "ADHD6" RELATED [] synonym: "attention deficit disorder" EXACT [] synonym: "attention deficit disorders" EXACT [] synonym: "Attention Deficit Disorders with Hyperactivity" EXACT [] synonym: "Attention Deficit Disorder with Hyperactivity" EXACT [] synonym: "attention deficit hyperactivity disorders" EXACT [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 1" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 2" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 3" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 4" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 5" RELATED [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 6" RELATED [] synonym: "DOPAMINE RECEPTOR D4 POLYMORPHISM" RELATED [] synonym: "hyperactivity disorder" NARROW [] synonym: "hyperactivity of childhood" EXACT [] synonym: "hyperkinetic disorder" EXACT [] synonym: "hyperkinetic syndrome" EXACT [] synonym: "minimal brain dysfunction" EXACT [] synonym: "tryptophan 5-monooxygenase deficiency" NARROW [] xref: EFO:0003888 xref: MESH:D001289 xref: NCI:C35092 xref: NCI:C97160 is_a: DOID:9009161 ! Attention Deficit and Disruptive Behavior Disorders [Term] id: DOID:10941 name: intracranial aneurysm def: "Abnormal outpouching in the wall of intracranial blood vessels. Most common are the saccular (berry) aneurysms located at branch points in CIRCLE OF WILLIS at the base of the brain. Vessel rupture results in SUBARACHNOID HEMORRHAGE or INTRACRANIAL HEMORRHAGES. Giant aneurysms (>2.5 cm in diameter) may compress adjacent structures, including the OCULOMOTOR NERVE. (From Adams et al., Principles of Neurology, 6th ed, p841)" [MESH:D002532] synonym: "Anterior Cerebral Artery Aneurysm" EXACT [] synonym: "Anterior Communicating Artery Aneurysm" EXACT [] synonym: "Basilar Artery Aneurysm" EXACT [] synonym: "basilar artery aneurysms" EXACT [] synonym: "Berry Aneurysm" EXACT [] synonym: "Berry Aneurysms" EXACT [] synonym: "Brain Aneurysm" EXACT [] synonym: "Brain Aneurysms" EXACT [] synonym: "Cerebral Aneurysm" EXACT [] synonym: "Cerebral Aneurysms" EXACT [] synonym: "Giant Intracranial Aneurysm" EXACT [] synonym: "Giant Intracranial Aneurysms" EXACT [] synonym: "Intracranial Aneurysms" EXACT [] synonym: "Intracranial Mycotic Aneurysm" EXACT [] synonym: "Intracranial Mycotic Aneurysms" EXACT [] synonym: "Middle Cerebral Artery Aneurysm" EXACT [] synonym: "Posterior Cerebral Artery Aneurysm" EXACT [] synonym: "posterior communicating artery aneurysm" EXACT [] xref: EFO:0003870 xref: MESH:D002532 xref: NCI:C34458 is_a: DOID:13089 ! intracranial arterial disease is_a: DOID:3527 ! cerebral arterial disease is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:10944 name: tongue disease def: "A mouth disease located_in the tongue. (DO)" [https://medlineplus.gov/tonguedisorders.html "DO"] synonym: "microglossia" EXACT [] synonym: "microglossias" EXACT [] synonym: "Tongue Diseases" EXACT [] xref: ICD10CM:K14 xref: ICD9CM:529.9 xref: MESH:D014060 xref: NCI:C173793 is_a: DOID:403 ! mouth disease [Term] id: DOID:10952 name: nephritis def: "A kidney disease that is characterized by an inflammation of the kidneys. (DO)" [https://en.wikipedia.org/wiki/Nephritis "DO"] synonym: "nephritides" EXACT [] xref: EFO:1002050 xref: ICD10CM:N05 xref: MESH:D009393 xref: NCI:C26833 is_a: DOID:557 ! kidney disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:10955 name: strongyloidiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, lungs, skin and central nervous system with nematode Strongyloides stercoralis. (DO)" [http://en.wikipedia.org/wiki/Strongyloidiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Strongyloidiasis.htm "DO"] synonym: "anguilluliases" EXACT [] synonym: "anguilluliasis" EXACT [] synonym: "disseminated strongyloidiasis" EXACT [] synonym: "infection by strongyloides" EXACT [] synonym: "strongyloidiases" EXACT [] xref: EFO:0007501 xref: GARD:8195 xref: ICD10CM:B78 xref: ICD9CM:127.2 xref: MESH:D013322 xref: NCI:C128398 is_a: DOID:9000928 ! Central Nervous System Helminthiasis is_a: DOID:9001455 ! Intestinal Helminthiasis is_a: DOID:9003369 ! Strongylida Infections is_a: DOID:9003947 ! Parasitic Lung Diseases is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:10963 name: cholesteatoma of attic xref: EFO:1000676 xref: ICD10CM:H71.0 xref: ICD9CM:385.31 xref: RDO:9003800 is_a: DOID:10964 ! cholesteatoma of middle ear created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:10964 name: cholesteatoma of middle ear def: "A mass of KERATIN-producing squamous EPITHELIUM that resembles an inverted (suck-in) bag of skin in the MIDDLE EAR. It arises from the eardrum (TYMPANIC MEMBRANE) and grows into the MIDDLE EAR causing erosion of EAR OSSICLES and MASTOID that contains the INNER EAR." [MESH:D018424] synonym: "aural cholesteatoma" EXACT [] synonym: "aural cholesteatomas" EXACT [] synonym: "cholesteatoma of middle ear and/or mastoid" EXACT [] synonym: "cholesteatoma of middle ear and mastoid" EXACT [] synonym: "cholesteatoma of the middle ear" EXACT [] synonym: "epidermosis of ear" EXACT [] synonym: "epidermosis of middle ear" EXACT [] synonym: "middle ear cholesteatoma" EXACT [] synonym: "middle ear cholesteatomas" EXACT [] xref: EFO:1000678 xref: ICD10CM:H71 xref: ICD9CM:385.3 xref: ICD9CM:385.32 xref: MESH:D018424 xref: NCI:C3654 is_a: DOID:5100 ! middle ear disease is_a: DOID:869 ! cholesteatoma [Term] id: DOID:10965 name: spastic diplegia def: "A spastic cerebral palsy that affects lower extremities resulting in tight leg and hip muscles. The legs cross at the knees, making it difficult to walk. (DO)" [https://rarediseases.info.nih.gov/diseases/9637/spastic-diplegia-cerebral-palsy "DO"] synonym: "cerebral spastic infantile paralysis" EXACT [] synonym: "infantile diplegic cerebral palsy" EXACT [] synonym: "infantile spastic cerebral palsy" EXACT [] synonym: "Little's disease" EXACT [] synonym: "Littles disease" EXACT [] synonym: "spastic diplegias" EXACT [] synonym: "spastic diplegic cerebral palsy" EXACT [] xref: ICD10CM:G80.1 xref: ICD9CM:343.0 xref: NCI:C34781 is_a: DOID:0050669 ! spastic cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10966 name: lipoid nephrosis def: "A kidney disease with no or minimal histological glomerular changes on light microscopy and with no immune deposits. It is characterized by lipid accumulation in the epithelial cells of KIDNEY TUBULES and in the URINE. Patients usually show NEPHROTIC SYNDROME indicating the presence of PROTEINURIA with accompanying EDEMA." [MESH:D009402] synonym: "Glomerulopathies, Minimal Change" EXACT [] synonym: "Idiopathic Minimal Change Nephrotic Syndrome" EXACT [] synonym: "Lipoid Nephroses" EXACT [] synonym: "Minimal Change Disease" EXACT [] synonym: "Minimal Change Diseases" EXACT [] synonym: "Minimal Change Glomerulonephritides" EXACT [] synonym: "Minimal Change Glomerulonephritis" EXACT [] synonym: "Minimal Change Glomerulopathy" EXACT [] synonym: "Minimal Change Nephropathies" EXACT [] synonym: "Minimal Change Nephropathy" EXACT [] synonym: "Minimal Change Nephrotic Syndrome" EXACT [] synonym: "nephrotic syndrome with lesion of minimal change glomerulonephritis" EXACT [] synonym: "nephrotic syndrome with lesion of minimal change nephrotic syndrome" EXACT [] xref: EFO:1001020 xref: MESH:D009402 xref: NCI:C34844 xref: NCI:C35540 is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:2527 ! nephrosis is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:10967 name: spastic hemiplegia def: "A spastic cerebral palsy that affects one side of the body resulting in stiff arm, hand and leg. On the affected side,the arm and leg may not develop normally. (DO)" [https://www.cerebralpalsyguide.com/cerebral-palsy/types/spastic/ "DO"] synonym: "congenital hemiplegia" EXACT [] synonym: "hemiplegic cerebral palsy" EXACT [] synonym: "hemiplegic infantile cerebral palsy" EXACT [] synonym: "spastic hemiplegic cerebral palsy" EXACT [] xref: GARD:10448 xref: ICD9CM:343.1 is_a: DOID:0050669 ! spastic cerebral palsy is_a: DOID:10969 ! hemiplegia created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10968 name: spastic monoplegia def: "A spastic cerebral palsy that affects only one limb. (DO)" [http://en.wikipedia.org/wiki/Cerebral_palsy#Ataxic "DO"] synonym: "monoplegic cerebral palsies" EXACT [] synonym: "monoplegic cerebral palsy" EXACT [] synonym: "monoplegic infantile cerebral palsy" EXACT [] synonym: "spastic monoplegic cerebral palsy" EXACT [] xref: GARD:10446 xref: ICD9CM:343.3 is_a: DOID:0050669 ! spastic cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10969 name: hemiplegia def: "A central nervous system disease that is characterized by the complete paralysis of half of the body. (DO)" [https://en.wikipedia.org/wiki/Hemiparesis "DO"] synonym: "crossed hemiplegia" EXACT [] synonym: "crossed hemiplegias" EXACT [] synonym: "Flaccid Hemiplegia" EXACT [] synonym: "flaccid hemiplegias" EXACT [] synonym: "HEMIPLEGIA/HEMIPARESIS" BROAD [] synonym: "Hemiplegias" EXACT [] synonym: "Infantile Hemiplegia" EXACT [] synonym: "Infantile Hemiplegias" EXACT [] synonym: "Monoplegia" EXACT [] synonym: "Monoplegias" EXACT [] synonym: "Post-Ictal Hemiplegia" EXACT [] synonym: "post-ictal hemiplegias" EXACT [] synonym: "postnatal infantile hemiplegia" EXACT [] synonym: "transient hemiplegia" EXACT [] synonym: "transient hemiplegias" EXACT [] xref: EFO:0009453 xref: GARD:6583 xref: ICD9CM:343.4 xref: MESH:D006429 is_a: DOID:331 ! central nervous system disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:10970 name: spastic quadriplegic cerebral palsy def: "A spastic cerebral palsy that is characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth, affecting all four limbs, and with difficulty with walking and talking. (DO)" [https://cerebralpalsygroup.com/cerebral-palsy/spastic/ "DO"] synonym: "inherited congenital spastic quadriplegia" EXACT [] synonym: "inherited congenital spastic tetraplegia" EXACT [] synonym: "quadriplegic infantile cerebral palsy" EXACT [] synonym: "spastic quadriplegia" EXACT [] synonym: "tetraplegic infantile cerebral palsy" EXACT [] xref: GARD:10447 xref: ICD9CM:343.2 xref: MIM:PS612900 xref: ORDO:210141 is_a: DOID:0050669 ! spastic cerebral palsy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:10971 name: acute salpingo-oophoritis synonym: "acute salpingitis and oophoritis" EXACT [] xref: ICD10CM:N70.03 xref: ICD9CM:614.0 is_a: DOID:10972 ! salpingo-oophoritis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10972 name: salpingo-oophoritis synonym: "salpingitis/oophoritis" EXACT [] synonym: "tubo-ovarian inflammatory disease" EXACT [] xref: ICD10CM:N70 xref: ICD9CM:614.2 xref: NCI:C171201 is_a: DOID:10974 ! oophoritis is_a: DOID:5733 ! salpingitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10973 name: acute salpingitis xref: ICD10CM:N70.01 xref: MONDO:0001173 xref: NCI:C40120 is_a: DOID:5733 ! salpingitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:10974 name: oophoritis def: "An ovarian disease that is characterized by inflammation of the ovary. (DO)" [https://en.wikipedia.org/wiki/Oophoritis "DO"] synonym: "oophoritides" EXACT [] xref: EFO:1001071 xref: ICD10CM:N70.92 xref: MESH:D009869 is_a: DOID:1003 ! pelvic inflammatory disease is_a: DOID:1100 ! ovarian disease [Term] id: DOID:10976 name: membranous glomerulonephritis alt_id: MIM:614692 def: "A type of glomerulonephritis that is characterized by the accumulation of immune deposits (COMPLEMENT MEMBRANE ATTACK COMPLEX) on the outer aspect of the GLOMERULAR BASEMENT MEMBRANE. It progresses from subepithelial dense deposits, to basement membrane reaction and eventual thickening of the basement membrane." [MESH:D015433] synonym: "CONGENITAL MEMBRANOUS NEPHROPATHY DUE TO FETOMATERNAL ANTI-NEUTRAL ENDOPEPTIDASE ALLOIMMUNIZATION" EXACT [] synonym: "Extramembranous Glomerulopathy" EXACT [] synonym: "Heymann Nephritis" EXACT [] synonym: "idiopathic membranous glomerulonephritides" EXACT [] synonym: "Idiopathic Membranous Glomerulonephritis" EXACT [] synonym: "Idiopathic Membranous Nephropathy" EXACT [] synonym: "MBNP" EXACT [] synonym: "Membranous Glomerulonephritides" EXACT [] synonym: "Membranous Glomerulonephropathy" EXACT [] synonym: "membranous glomerulopathy" EXACT [] synonym: "membranous nephropathy" EXACT [] synonym: "membranous nephropathy, susceptibility to" RELATED [] xref: EFO:0004254 xref: ICD10CM:N03.2 xref: MESH:D015433 xref: NCI:C34645 is_a: DOID:2921 ! glomerulonephritis is_a: DOID:417 ! autoimmune disease [Term] id: DOID:1098 name: hemolytic disease of the fetus def: "A microcytic anemia that is characterized by Rho(D) incompatibility, which may develop when a woman with Rh-negative blood is impregnated by an individual with Rh-positive blood and conceives a fetus with Rh-positive blood, sometimes resulting in hemolysis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK557423/ "DO", MESH:D004899] synonym: "alloimmune HDFN" EXACT [] synonym: "BLOOD GROUP--KIDD SYSTEM" RELATED [] synonym: "EF - erythroblastosis foetalis" EXACT [] synonym: "Erythroblastosis Fetali" EXACT [] synonym: "Erythroblastosis Fetalis" EXACT [] synonym: "fetal erythroblastosis" EXACT [] synonym: "haemolytic disease due to rhesus isoimmunisation" EXACT [] synonym: "hemolytic disease of newborn" EXACT [] synonym: "Hemolytic disease of the fetus and newborn" EXACT [] synonym: "KELL K/K BLOOD GROUP POLYMORPHISM" RELATED [] synonym: "newborn hemolytic disease" EXACT [] synonym: "newborn hemolytic diseases" EXACT [] synonym: "RADIN BLOOD GROUP" RELATED [] synonym: "rhesus isoimmunisation of the newborn" EXACT [] xref: EFO:1000937 xref: ICD10CM:P55 xref: ICD10CM:P55.9 xref: ICD9CM:773 xref: MESH:D004899 xref: MONDO:0006760 xref: NCI:C101304 is_a: DOID:11252 ! microcytic anemia is_a: DOID:2914 ! immune system disease is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:10983 name: Alport syndrome def: "A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. (DO)" [http://en.wikipedia.org/wiki/Alport_syndrome "DO"] synonym: "Alport's syndrome" EXACT [] synonym: "congenital hereditary hematuria" EXACT [] synonym: "DISEASE OF GLOMERULAR BASEMENT MEMBRANE" EXACT [] synonym: "familial nephritis" EXACT [] synonym: "hematuria nephropathy deafness syndrome" EXACT [] synonym: "Hematuric Hereditary Nephritis" EXACT [] synonym: "Hemorrhagic Familial Nephritis" EXACT [] synonym: "hemorrhagic hereditary nephritis" EXACT [] synonym: "hereditary familial congenital hemorrhagic nephritis" EXACT [] synonym: "hereditary hematuria syndrome" EXACT [] synonym: "hereditary interstitial pyelonephritis" EXACT [] synonym: "hereditary nephritis" BROAD [] xref: EFO:0004128 xref: GARD:5785 xref: MESH:D009394 xref: MIM:PS301050 xref: NCI:C34842 xref: ORDO:63 is_a: DOID:0050177 ! monogenic disease is_a: DOID:10952 ! nephritis is_a: DOID:225 ! syndrome is_a: DOID:854 ! collagen disease is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:10986 name: discitis def: "A cartilage disease that is characterized by an infection of the intervertebral disc space. (DO)" [https://medlineplus.gov/ency/article/000993.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK541047 "DO", MESH:D015299] synonym: "diskitis" EXACT [1] synonym: "spondylodiscitis" EXACT [1] synonym: "spondylodiskitis" EXACT [1] xref: EFO:1000900 xref: ICD10CM:M46.4 xref: MESH:D015299 is_a: DOID:1222 ! cartilage disease is_a: DOID:6590 ! spondylitis [Term] id: DOID:10989 name: conjunctival vascular disease synonym: "Conjunctival vascular abnormality" EXACT [SNOMEDCT_2005_07_31:193900004] synonym: "vascular abnormalities of conjunctiva" EXACT [ICD9CM_2006:372.74] xref: ICD10CM:H11.41 xref: ICD9CM:372.74 xref: NCI:C35116 xref: RDO:9003824 is_a: DOID:4251 ! conjunctival disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1099 name: alpha thalassemia alt_id: MIM:604131 def: "A thalassemia involving the genes HBA1and HBA2 hemoglobin genes. (DO)" [http://en.wikipedia.org/wiki/Alpha_Thalassemia "DO"] synonym: "alpha thalassaemia" EXACT [] synonym: "alpha-thalassemia and related diseases" EXACT [] synonym: "ALPHA-THALASSEMIA, HMONG TYPE" NARROW [] synonym: "alpha-Thalassemias" EXACT [] synonym: "ALPHA-THALASSEMIA, ZF TYPE" NARROW [] synonym: "A-Thalassemia" EXACT [] synonym: "HEMOGLOBIN CHAROLLES" RELATED [] synonym: "Hemoglobin Constant Spring" RELATED [] synonym: "HEMOGLOBIN KOYA DORA" RELATED [] synonym: "HEMOGLOBIN MANUKAU" RELATED [] synonym: "Hemoglobin New York" RELATED [] synonym: "hemoglobin Petah Tikva" RELATED [] synonym: "hemoglobin Prato" RELATED [] synonym: "hemoglobin Quong Sze" RELATED [] xref: GARD:621 xref: ICD9CM:282.43 xref: MESH:D017085 xref: NCI:C34368 is_a: DOID:10241 ! thalassemia [Term] id: DOID:10991 name: basal ganglia cerebrovascular disease def: "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA), such as INFARCTION; HEMORRHAGE; or ISCHEMIA in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (DYSKINESIAS) and muscle weakness (HEMIPARESIS)." [MESH:D020144] synonym: "Basal Ganglia Vascular Disease" EXACT [] synonym: "basal ganglia vascular diseases" EXACT [] synonym: "Lenticulostriate Vascular Disease" EXACT [] synonym: "Lenticulostriate Vascular Diseases" EXACT [] synonym: "Lenticulostriate Vasculopathies" EXACT [] synonym: "Lenticulostriate Vasculopathy" EXACT [] xref: EFO:1000640 xref: MESH:D020144 is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:10992 name: acute hemorrhagic leukoencephalitis alt_id: MIM:606752 alt_id: RDO:0005478 def: "A very rare form of acute disseminated encephalomyelitis, characterized by a brief but intense attack of inflammation and necrotizing vasculitis of venules and hemorrhage, and edema. (DO)" [http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis#Acute_hemorrhagic_leukoencephalitis "DO", http://rarediseases.info.nih.gov/gard/8629/acute-hemorrhagic-leukoencephalitis/resources/1 "DO"] synonym: "acute haemorrhagic leucoencephalitis of Weston Hurst" EXACT [SNOMEDCT_2005_07_31:72986009] synonym: "acute hemorrhagic encephalomyelitides" EXACT [] synonym: "acute hemorrhagic encephalomyelitis" EXACT [] synonym: "Acute Hemorrhagic Leukoencephalitides" EXACT [] synonym: "acute necrotizing hemorrhagic leukoencephalitis" EXACT [] synonym: "AHL" EXACT [OMIM:606752] synonym: "Encephalomyelitis, Acute Necrotizing Hemorrhagic" EXACT [] synonym: "Hemorrhagic Necrotizing Encephalomyelitis" EXACT [] synonym: "Hurst's Disease" EXACT [] synonym: "Hurst Disease" EXACT [] synonym: "Hursts Disease" EXACT [] synonym: "Hurst Syndrome" EXACT [] synonym: "Leukoencephalitis Acuta Hemorrhagica" EXACT [] synonym: "Necrotizing Hemorrhagic Encephalomyelitides" EXACT [] synonym: "subacute hemorrhagic leukoencephalitides" EXACT [] synonym: "subacute hemorrhagic leukoencephalitis" EXACT [] synonym: "Weston-Hurst syndrome" EXACT [] xref: EFO:0007132 xref: GARD:8629 xref: MESH:D004684 xref: NCI:C84535 is_a: DOID:639 ! acute disseminated encephalomyelitis is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS [Term] id: DOID:10993 name: postinfectious encephalitis def: "An encephalitis that is characterized by the immune system mistakenly attacking healthy cells in the brain instead of attacking only the cells causing the infection, often occurring two to three weeks after the initial infection. (DO)" [https://www.mayoclinic.org/diseases-conditions/encephalitis/symptoms-causes/syc-20356136 "DO"] synonym: "postinfective encephalitis" EXACT [] synonym: "secondary encephalitis" EXACT [] is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:9588 ! encephalitis created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:10997 name: immature cataract def: "A senile cataract that is characterized by variable opacification of the lens of the eye with some clear lens fibers remaining. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"] synonym: "incipient cataract" EXACT [] synonym: "incipient senile cataract" EXACT [] synonym: "water clefts" EXACT [] xref: ICD10CM:H25.09 xref: RDO:9004348 is_a: DOID:9669 ! senile cataract created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:110 name: lens disease def: "An eye disease that affects the lens of the eye, which is the transparent disc that focuses light to the photosensors in the back of the eye. (DO)" [https://en.wikipedia.org/wiki/Lens_(anatomy) "DO"] synonym: "lens diseases" EXACT [] xref: EFO:0009674 xref: ICD10CM:H27.9 xref: MESH:D007905 xref: NCI:C26812 is_a: DOID:5614 ! eye disease [Term] id: DOID:1100 name: ovarian disease def: "A female reproductive system disease that is located_in the ovary. (DO)" [https://medlineplus.gov/ovariandisorders.html "DO"] synonym: "ovarian diseases" EXACT [] xref: EFO:0005771 xref: MESH:D010049 xref: NCI:C26841 is_a: DOID:2277 ! gonadal disease is_a: DOID:9003261 ! Adnexal Diseases [Term] id: DOID:11014 name: anorectal stricture synonym: "stenosis of rectum and anus" EXACT [] xref: ICD10CM:K62.4 is_a: DOID:3128 ! anus disease is_a: DOID:9001471 ! Anorectal Malformations [Term] id: DOID:11028 name: pseudopterygium xref: ICD9CM:372.52 is_a: DOID:10124 ! corneal disease is_a: DOID:10139 ! conjunctival degeneration created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11029 name: pinguecula def: "A yellowish thickened lesion on the conjunctiva near the CORNEA representing a benign degenerative change in the CONJUNCTIVA caused by the leakage and deposition of certain blood proteins through the permeable capillaries near the LIMBUS." [MESH:D059407] synonym: "Pingueculas" EXACT [] xref: EFO:1001824 xref: ICD10CM:H11.15 xref: ICD9CM:372.51 xref: MESH:D059407 xref: NCI:C129468 is_a: DOID:10139 ! conjunctival degeneration is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:11030 name: corneal edema def: "An excessive amount of fluid in the cornea due to damage of the epithelium or endothelium causing decreased visual acuity." [MESH:D015715] synonym: "corneal edemas" EXACT [] synonym: "corneal oedema" EXACT [] xref: EFO:1000879 xref: ICD10CM:H18.20 xref: ICD9CM:371.2 xref: MESH:D015715 xref: NCI:C50508 is_a: DOID:10124 ! corneal disease [Term] id: DOID:11031 name: bullous keratopathy def: "A blister-like swelling of the cornea." [] xref: ICD10CM:H18.1 xref: ICD9CM:371.23 xref: NCI:C26970 is_a: DOID:11030 ! corneal edema is_a: DOID:2283 ! keratopathy [Term] id: DOID:11032 name: secondary corneal edema xref: ICD10CM:H18.23 xref: ICD9CM:371.22 is_a: DOID:11030 ! corneal edema created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:11033 name: idiopathic corneal edema xref: ICD10CM:H18.22 xref: ICD9CM:371.21 xref: RDO:9004443 is_a: DOID:11030 ! corneal edema created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:11034 name: contact lens corneal edema def: "Corneal edema due to wearing of contact lenses. (ICD-9)" [] xref: ICD9CM:371.24 is_a: DOID:11030 ! corneal edema created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:11036 name: chronic rapidly progressive glomerulonephritis synonym: "chronic glomerulonephritis with lesion of rapidly progressive glomerulonephritis" EXACT [] xref: ICD9CM:582.4 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11037 name: dissociative amnesia def: "A dissociative disorder where he continuity of the patient's memory is disrupted. Patients with dissociative amnesia have recurrent episodes in which they forget important personal information or events, usually connected with trauma or severe stress. (DO)" [https://www.merckmanuals.com/professional/psychiatric-disorders/dissociative-disorders/dissociative-amnesia "DO"] synonym: "dissociative amnesias" EXACT [] synonym: "psychogenic amnesia" EXACT [] xref: ICD10CM:F44.0 xref: ICD9CM:300.12 xref: NCI:C94328 is_a: DOID:10914 ! amnestic disorder is_a: DOID:10935 ! dissociative disorder created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11038 name: depersonalization disorder def: "A dissociative disorder in which the sufferer is affected by persistent or recurrent feelings of depersonalization and/or derealization. (DO)" [http://en.wikipedia.org/wiki/Depersonalization_disorder "DO"] synonym: "Neurotic derealization" EXACT [MTHICD9_2006:300.6] xref: GARD:6260 xref: ICD9CM:300.6 xref: NCI:C94331 xref: RDO:9004219 is_a: DOID:10935 ! dissociative disorder created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11042 name: Felty's syndrome alt_id: MIM:134750 def: "A syndrome that results_in rheumatoid arthritis, splenomegaly and neutropenia. (DO)" [http://en.wikipedia.org/wiki/Felty%27s_syndrome "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000445.htm "DO"] synonym: "familial Felty's syndrome" EXACT [] synonym: "Familial Feltys Syndrome" EXACT [] synonym: "Familial Felty Syndrome" EXACT [] synonym: "Feltys Syndrome" EXACT [] synonym: "Felty syndrome" EXACT [] synonym: "rheumatoid arthritis, splenomegaly and neutropenia" EXACT [] synonym: "rheumatoid arthritis with splenoadenomegaly and leukopenia" EXACT [] xref: EFO:0007269 xref: GARD:8234 xref: ICD10CM:M05.0 xref: ICD9CM:714.1 xref: MESH:D005258 xref: NCI:C84712 is_a: DOID:225 ! syndrome is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:11044 name: gastroschisis alt_id: MIM:230750 def: "A congenital defect with major fissure in the ABDOMINAL WALL lateral to, but not at, the UMBILICUS. This results in the extrusion of VISCERA. Unlike OMPHALOCELE, herniated structures in gastroschisis are not covered by a sac or PERITONEUM." [MESH:D020139] synonym: "congenital fissure of the abdominal cavity" EXACT [] synonym: "gastroschises" EXACT [] xref: EFO:1000949 xref: GARD:8661 xref: ICD10CM:Q79.3 xref: ICD9CM:756.73 xref: MESH:D020139 xref: NCI:C84725 is_a: DOID:0080015 ! physical disorder is_a: DOID:9004681 ! Abdominal Hernia is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:11049 name: meconium aspiration syndrome def: "A lung disease that is characterized by a newborn breathing in a mixture of meconium and amniotic fluid into the lungs around the time of delivery. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27206687/ "DO"] synonym: "meconium aspiration" EXACT [] synonym: "meconium inhalation" EXACT [] synonym: "neonatal aspiration of meconium" EXACT [] xref: EFO:1001037 xref: GARD:10494 xref: ICD10CM:P24.0 xref: ICD10CM:P24.00 xref: ICD10CM:P24.01 xref: MESH:D008471 xref: NCI:C87093 is_a: DOID:225 ! syndrome is_a: DOID:9000310 ! Lung Injury is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:11054 name: urinary bladder cancer alt_id: MIM:109800 def: "An urinary system cancer that results_in malignant growth located_in the urinary bladder. (DO)" [http://en.wikipedia.org/wiki/Bladder_cancer "DO"] synonym: "bladder cancer" EXACT [] synonym: "bladder cancers" EXACT [] synonym: "BLADDER CANCER, TRANSITIONAL CELL, SOMATIC" NARROW [] synonym: "cancer of bladder" EXACT [] synonym: "cancer of the bladder" EXACT [] synonym: "malignant tumor of urinary bladder" EXACT [] synonym: "tumor of the bladder" EXACT [] xref: GARD:12210 xref: ICD10CM:C67 xref: ICD9CM:188 xref: MESH:D001749 xref: MONDO:0001187 xref: NCI:C2901 xref: NCI:C9334 is_a: DOID:3996 ! urinary system cancer is_a: DOID:9009116 ! Urinary Bladder Neoplasm [Term] id: DOID:11055 name: pasteurellosis def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Pasteurella multocida, which is transmitted_by animal bite, scratch, or lick. The infection has_symptom joint pain has_symptom fever, has_symptom rigors, has_symptom pneumonia, has_symptom meningeal irritation, and has_symptom tachycardia. (DO)" [http://en.wikipedia.org/wiki/Pasteurellosis "DO"] synonym: "pasteurella infection" EXACT [] synonym: "pasteurella infections" EXACT [] synonym: "pasteurella infectious disease" EXACT [] synonym: "pasteurelloses" EXACT [] xref: EFO:0007424 xref: ICD10CM:A28.0 xref: ICD9CM:027.2 xref: MESH:D010326 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008746 ! Pasteurellaceae Infections [Term] id: DOID:1106 name: esophagus lymphoma synonym: "lymphoma of esophagus" EXACT [] synonym: "lymphoma of oesophagus" EXACT [] synonym: "oesophagus lymphoma" EXACT [] xref: NCI:C5687 is_a: DOID:0060058 ! lymphoma is_a: DOID:5041 ! esophageal cancer created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:11060 name: placenta praevia def: "A placenta disease that is characterized by placenta attachment to the uterine wall close to or covering the cervix. (DO)" [http://en.wikipedia.org/wiki/Placenta_previa "DO"] synonym: "placenta previa" EXACT [] xref: EFO:0007442 xref: ICD10CM:O44 xref: MESH:D010923 xref: NCI:C26858 is_a: DOID:780 ! placenta disease is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:1107 name: esophageal carcinoma def: "A esophageal cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Esophageal_cancer "DO"] synonym: "cancer of esophagus" EXACT [] synonym: "cancer of oesophagus" EXACT [] synonym: "carcinoma of esophagus" EXACT [] synonym: "carcinoma of oesophagus" EXACT [] synonym: "EFO:0002916" EXACT [] synonym: "esophageal carcinoma, somatic" EXACT [] xref: EFO:0002916 xref: NCI:C3513 xref: ORDO:70482 is_a: DOID:305 ! carcinoma is_a: DOID:5041 ! esophageal cancer created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:11076 name: Brucella suis brucellosis def: "A brucellosis that involves an infection caused by Brucella suis [NCBITaxon:29461] in swine and humans. The disease has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom diaphoresis, has_symptom arthralgia, has_symptom myalgia, has_symptom headache, has_symptom anorexia, and has_symptom fatigue. (DO)" [http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5822a3.htm "DO"] is_a: DOID:11077 ! brucellosis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11077 name: brucellosis def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue. (DO)" [http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm "DO"] synonym: "brucelloses" EXACT [] synonym: "Cyprus fever" EXACT [] synonym: "Cyprus fevers" EXACT [] synonym: "Gibraltar fever" RELATED [] synonym: "Malta fever" EXACT [] synonym: "Maltese fever" EXACT [] synonym: "Mediterranean fever" RELATED [] synonym: "pulmonary brucelloses" EXACT [] synonym: "pulmonary brucellosis" EXACT [] synonym: "rock fever" EXACT [] synonym: "rock fevers" EXACT [] synonym: "undulant fever" EXACT [] xref: EFO:0007185 xref: GARD:5966 xref: ICD10CM:A23 xref: ICD9CM:023 xref: MESH:D002006 xref: NCI:C84602 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:11079 name: leech infestation def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation by members of the subclass Hirudinea. The leeches remain attached to their hosts and feed on blood until they become full, at which point they fall off to digest. While feeding, they release an anesthetic and use a combination of mucus and suction to stay attached and secrete an anti-clotting enzyme, hirudin, into the host's blood stream. (DO)" [http://en.wikipedia.org/wiki/Leech "DO", http://www.plosone.org/article/info\:doi/10.1371/journal.pone.0010057 "DO"] synonym: "hirudiniasis" EXACT [] synonym: "leeches" EXACT [] xref: ICD10CM:B88.3 xref: ICD9CM:134.2 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:1108 name: esophagus melanoma synonym: "esophageal melanoma" EXACT [] synonym: "melanoma of esophagus" EXACT [] synonym: "melanoma of oesophagus" EXACT [] synonym: "oesophagus melanoma" EXACT [] xref: MONDO:0001192 xref: NCI:C5707 is_a: DOID:1909 ! melanoma is_a: DOID:5784 ! esophageal neuroendocrine tumor created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:11080 name: myiasis def: "A parasitic ectoparasitic infectious disease that is caused by parasitic dipterous fly larvae (maggots) feeding on the host's necrotic or living tissue. (DO)" [http://en.wikipedia.org/wiki/Myiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"] synonym: "infestation by fly larvae" EXACT [] synonym: "infestation by maggots" EXACT [] synonym: "Maggot Infestation" EXACT [] synonym: "Maggot Infestations" EXACT [] synonym: "Myiases" EXACT [] xref: EFO:0007389 xref: ICD10CM:B87 xref: ICD9CM:134.0 xref: MESH:D009198 xref: NCI:C128400 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:11086 name: chorioretinal scar xref: ICD10CM:H31.0 xref: ICD9CM:363.3 is_a: DOID:5679 ! retinal disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11088 name: asphyxia neonatorum def: "A respiratory system disease that is characterized by deprivation of oxygen to a newborn infant that lasts long enough during the birth process to cause physical harm, usually to the brain. (DO)" [https://en.wikipedia.org/wiki/Perinatal_asphyxia "DO"] synonym: "asphyxia in liveborn infant" EXACT [] synonym: "birth asphyxia" EXACT [] synonym: "postnatal asphyxia" EXACT [] xref: EFO:1000824 xref: GARD:5857 xref: ICD10CM:P84 xref: ICD9CM:768.9 xref: MESH:D001238 is_a: DOID:1579 ! respiratory system disease is_a: DOID:9001041 ! Asphyxia is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:11100 name: Q fever def: "A primary bacterial infectious disease that is a zoonotic infectious disease affecting multiple organs, has_material_basis_in Coxiella burnetii, which is transmitted_by inhalation of air contaminated by barnyard dust containing dried placental material, birth fluids, or excreta of infected herd animals, transmitted_by ingestion of contaminated milk, transmitted_by tick bites and transmitted_by contact with infected person. The infection has_symptom fever, has_symptom headache, has_symptom cough, has_symptom pleuritic chest pain, has_symptom myalgia and has_symptom arthralgia. (DO)" [http://en.wikipedia.org/wiki/Q_fever "DO", http://www.cdc.gov/qfever/symptoms/index.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/15021054 "DO"] synonym: "Acute Q Fever" EXACT [] synonym: "Acute Q Fevers" EXACT [] synonym: "Chronic Q Fever" EXACT [] synonym: "Chronic Q Fevers" EXACT [] synonym: "Coxiella burnetii Fever" EXACT [] synonym: "Coxiella burnetii Fevers" EXACT [] synonym: "Coxiella burnetii Infection" EXACT [] synonym: "Coxiella burnetii Infections" EXACT [] synonym: "Coxiella burnetii Vector Borne Disease" EXACT [] synonym: "infection due to Coxiella burnetii" EXACT [] synonym: "Q Fevers" EXACT [] synonym: "Query Fever" EXACT [] synonym: "Query Fevers" EXACT [] xref: EFO:0005224 xref: GARD:7515 xref: ICD10CM:A78 xref: ICD9CM:083.0 xref: MESH:D011778 xref: NCI:C34970 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:11101 name: trench fever def: "A primary bacterial infectious disease that results in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted by body lice (Pediculus humanus corporis). The infection has symptom relapsing fever, has symptom headache, has symptom shin pain, and has symptom soreness of the muscles of the legs and back. (DO)" [http://en.wikipedia.org/wiki/Trench_fever "DO"] synonym: "His-Werner disease" EXACT [] synonym: "Quintan fever" EXACT [] synonym: "shin bone fever" EXACT [] synonym: "tibialgic fever" EXACT [] synonym: "trench fevers" EXACT [] synonym: "Wolhynian fever" EXACT [] xref: EFO:0007519 xref: ICD10CM:A79.0 xref: ICD9CM:083.1 xref: MESH:D014205 is_a: DOID:11102 ! bartonellosis [Term] id: DOID:11102 name: bartonellosis def: "A primary bacterial infectious disease that is caused by the bacteria of the genus Bartonella. (DO)" [https://en.wikipedia.org/wiki/Bartonellosis "DO"] synonym: "Bartonella Infection" EXACT [] synonym: "Bartonella infections" EXACT [] synonym: "Bartonella infectious disease" EXACT [] synonym: "bartonelliasis" EXACT [] synonym: "bartonelloses" EXACT [] synonym: "Rochalimaea infection" EXACT [] synonym: "Rochalimaea infections" EXACT [] synonym: "verruga peruana" EXACT [] xref: EFO:0007166 xref: ICD10CM:A44 xref: ICD9CM:088.0 xref: MESH:D001474 xref: NCI:C84586 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9003175 ! Bartonellaceae Infections [Term] id: DOID:11103 name: rickettsialpox def: "A spotted fever that has_material_basis_in Rickettsia akari, which is transmitted_by house mouse mite (Liponyssoides sanguineus) found on mice and other rodents. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, and has_symptom papulovesicular rash. (DO)" [http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "Rickettsia akari spotted fever" EXACT [] synonym: "Vesicular rickettsiosis" EXACT [] xref: ICD10CM:A79.1 xref: ICD9CM:083.2 is_a: DOID:11104 ! spotted fever created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:11104 name: spotted fever def: "A primary bacterial infectious disease that results in infection, located in endothelial cell of artery or located in endothelial cell of vein, has_material_basis_in Rickettsia, which is transmitted by ticks and mites. The infection has symptom fever, has symptom headache, has symptom fatigue, has symptom muscle aches, and has symptom maculopapular or petechial rash. A distinctive eschar (blackened or crusted skin) may develop at the site of a tick bite. (DO)" [http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "spotted fever group rickettsial disease" EXACT [] xref: EFO:1002047 xref: GARD:4998 xref: ICD10CM:A77.9 xref: ICD9CM:082.0 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9007347 ! Rickettsia Infections created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:11105 name: fundus albipunctatus alt_id: MIM:136880 def: "A fundus dystrophy that is characterized by discrete uniform white dots over the entire fundus with greatest density in the midperiphery and no macular involvement. (DO)" [http://www.omim.org/entry/136880 "DO"] synonym: "FUNDUS ALBIPUNCTATUS, AUTOSOMAL RECESSIVE" NARROW [] synonym: "pigmentary retinal dystrophy" EXACT [] synonym: "RETINITIS PUNCTATA ALBESCENS" NARROW [] synonym: "RETINITIS PUNCTATA ALBESCENS, AUTOSOMAL DOMINANT" NARROW [] xref: MESH:C562733 is_a: DOID:5679 ! retinal disease is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:11111 name: hydronephrosis def: "Abnormal enlargement or swelling of a KIDNEY due to dilation of the KIDNEY CALICES and the KIDNEY PELVIS. It is often associated with obstruction of the URETER or chronic kidney diseases that prevents normal drainage of urine into the URINARY BLADDER." [MESH:D006869] synonym: "Hydronephroses" EXACT [] xref: EFO:0005562 xref: ICD10CM:N13.30 xref: ICD9CM:591 xref: MESH:D006869 xref: NCI:C26796 is_a: DOID:5200 ! urinary tract obstruction is_a: DOID:557 ! kidney disease [Term] id: DOID:11119 name: Gilles de la Tourette syndrome alt_id: MIM:137580 def: "A tic disorder that is characterized by multiple physical (motor) tics and at least one vocal (phonic) tic present for more than a year. (DO)" [http://en.wikipedia.org/wiki/Tic_disorder "DO", http://en.wikipedia.org/wiki/Tourette%27s_disorder "DO"] synonym: "chronic motor and vocal tic disorder" EXACT [] synonym: "combined multiple motor and vocal tic disorder" EXACT [] synonym: "Gilles de la Tourette's Disease" EXACT [] synonym: "Gilles De La Tourette's Syndrome" EXACT [] synonym: "GTS" EXACT [] synonym: "Guinon's disease" EXACT [] synonym: "motor-verbal tic disorder" EXACT [] synonym: "psychogenic tics" EXACT [] synonym: "Tourette's Disease" EXACT [] synonym: "Tourette's Disorder" EXACT [] synonym: "Tourette's syndrome" EXACT [] synonym: "Tourette Disease" EXACT [] synonym: "Tourette Disorder" EXACT [] synonym: "TOURETTE DISORDER CHRONIC MOTOR TICS" NARROW [] synonym: "Tourettes Disease" EXACT [] synonym: "Tourettes Disorder" EXACT [] synonym: "Tourettes syndrome" EXACT [] synonym: "Tourette syndrome" EXACT [] synonym: "TS" EXACT [] xref: EFO:0004895 xref: GARD:7783 xref: ICD10CM:F95.2 xref: ICD9CM:307.23 xref: MESH:D005879 xref: NCI:C35078 is_a: DOID:225 ! syndrome is_a: DOID:2769 ! tic disorder is_a: DOID:679 ! basal ganglia disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:11120 name: psychologic dyspareunia def: "Recurrent genital pain occurring during, before, or after SEXUAL INTERCOURSE in either the male or the female." [MESH:D004414] synonym: "dyspareunia" EXACT [] synonym: "non-organic dyspareunia" EXACT [] synonym: "psychogenic dyspareunia" EXACT [] xref: ICD10CM:F52.6 xref: ICD9CM:302.76 xref: MESH:D004414 xref: MONDO:0001196 is_a: DOID:10132 ! psychosexual disorder is_a: DOID:1876 ! sexual dysfunction [Term] id: DOID:11121 name: pulpitis def: "A dental pulp disease characterized by inflammation. (DO)" [https://www.ada.org/publications/cdt/glossary-of-dental-clinical-terms "DO", https://www.merckmanuals.com/professional/dental-disorders/common-dental-disorders/pulpitis "DO"] synonym: "endodontic inflammation" EXACT [] synonym: "endodontic inflammations" EXACT [] synonym: "pulpitides" EXACT [] xref: EFO:1001139 xref: ICD10CM:K04.0 xref: ICD9CM:522.0 xref: MESH:D011671 xref: NCI:C52595 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:11123 name: Henoch-Schoenlein purpura def: "A hypersensitivity vasculitis that is characterized by purpura (purplish plaques), arthralgia, gastrointestinal upset, and/or glomerulonephritis, and may be related to increased immune response following an infection. (DO)" [https://rarediseases.info.nih.gov/diseases/8204/henoch-schonlein-purpura "DO"] synonym: "allergic purpura" EXACT [] synonym: "Anaphylactoid Purpura" EXACT [] synonym: "autoimmune purpura" EXACT [] synonym: "Hemorrhagic Vasculitis" EXACT [] synonym: "Henoch Purpura" EXACT [] synonym: "Henoch-Schoenlein purpura nephritis" NARROW [] synonym: "Henoch-Scholein purpura" EXACT [] synonym: "Henoch Schonlein Purpura" EXACT [] synonym: "Henoch Schonlein Purpuras" EXACT [] synonym: "Henoch-Schönlein purpura" EXACT [] synonym: "HSP" EXACT [] synonym: "IgAV" EXACT [] synonym: "IgA vasculitis" EXACT [] synonym: "Nonthrombocytopenic Purpura" EXACT [] synonym: "Nonthrombopenic Purpura" EXACT [] synonym: "Nonthrombopenic Purpuras" EXACT [] synonym: "Purpura Hemorrhagica" EXACT [] synonym: "rheumatoid purpura" EXACT [] xref: EFO:1000965 xref: GARD:8204 xref: ICD10CM:D69.0 xref: ICD9CM:287.0 xref: MESH:D011695 xref: NCI:C34963 is_a: DOID:3326 ! purpura is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:9809 ! hypersensitivity vasculitis [Term] id: DOID:11125 name: qualitative platelet defect synonym: "Qualitative platelet deficiency" EXACT [SNOMEDCT_2005_07_31:191311007] xref: ICD9CM:287.1 xref: RDO:9002789 is_a: DOID:2218 ! blood platelet disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11126 name: acquired thrombocytopenia synonym: "secondary thrombocytopenia" EXACT [] xref: ICD10CM:D69.5 xref: ICD9CM:287.4 xref: RDO:9002307 is_a: DOID:1588 ! thrombocytopenia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11129 name: dislocation of ear ossicle synonym: "dislocation of ear ossicles" EXACT [] xref: ICD9CM:385.23 xref: MONDO:0001199 is_a: DOID:5100 ! middle ear disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11130 name: secondary hypertension xref: EFO:1002034 xref: ICD10CM:I15 xref: ICD9CM:405 xref: NCI:C3657 xref: RDO:9001819 is_a: DOID:10763 ! hypertension created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:11132 name: prostatic hypertrophy alt_id: MIM:600082 def: "Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both." [MESH:D011470] synonym: "benign prostatic hyperplasia" EXACT [] synonym: "benign prostatic hypertrophy" EXACT [] synonym: "prostatic hyperplasia" EXACT [] xref: EFO:0000284 xref: MESH:D011470 xref: NCI:C2897 is_a: DOID:47 ! prostate disease [Term] id: DOID:11133 name: prostatic cyst synonym: "cyst of prostate" EXACT [] xref: ICD10CM:N42.83 xref: ICD9CM:600.3 xref: MONDO:0001202 is_a: DOID:11132 ! prostatic hypertrophy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11134 name: prolapse of lacrimal gland synonym: "dislocation of lacrimal gland" EXACT [] xref: ICD10CM:H04.16 xref: ICD9CM:375.16 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:9006649 ! Prolapse created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:1114 name: esophagus sarcoma def: "An esophageal cancer that arises from transformed cells of mesenchymal origin sarcoma and located_in the esophagus. (DO)" [http://en.wikipedia.org/wiki/Sarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/1658495 "DO"] synonym: "esophageal sarcoma" EXACT [] xref: NCI:C5341 is_a: DOID:1115 ! sarcoma is_a: DOID:5041 ! esophageal cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11148 name: hypersecretion glaucoma def: "A glaucoma characterized by high aqueous fluid production and inflow relative to aqueous fluid outflow leading to inappropriately elevated intraocular pressure, which may lead to optic nerve damage and visual field loss. Hypersecretion glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Hypersecretion glaucoma is caused by high aqueous fluid inflow relative to outflow. (DO)" [https://en.wikipedia.org/wiki/Glaucoma#Primary_glaucoma_and_its_variants "DO", https://jamanetwork.com/journals/jamaophthalmology/article-abstract/624904 "DO"] xref: ICD10CM:H40.82 xref: ICD9CM:365.81 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11149 name: aqueous misdirection def: "A glaucoma characterized by shallowing of the central and peripheral anterior chamber from posterior pressure such that the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Aqueous misdirection has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Aqueous misdirection is caused by an abnormal relationsihp between the ciliary body, lens, and anterior vitreous such that aqueous flow is diverted into the posterior segment, leading to increased posterior pressure, which further closes the angle. Aqueous misdirection may occur in association with glaucoma surgery, trauma, endophthalmitis, and retinopathy of prematurity. (DO)" [https://eyewiki.aao.org/Aqueous_misdirection "DO"] xref: ICD10CM:H40.83 xref: ICD9CM:365.83 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:1115 name: sarcoma def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic mesoderm. (DO)" [http://cancergenome.nih.gov/cancersselected/Sarcoma "DO", http://en.wikipedia.org/wiki/Sarcoma "DO", http://www.cancer.gov/dictionary?CdrID=45562 "DO"] synonym: "connective and soft tissue neoplasm" EXACT [] synonym: "EFO:0000691" EXACT [] synonym: "sarcomas" EXACT [] synonym: "soft tissue sarcoma" NARROW [] synonym: "soft tissue sarcomas" NARROW [] synonym: "tumor of soft tissue and skeleton" EXACT [] xref: EFO:0000691 xref: EFO:1001968 xref: ICD9CM:171.9 xref: ICDO:8800/3 xref: MESH:D012509 xref: NCI:C128195 xref: NCI:C132276 xref: NCI:C21603 xref: NCI:C60505 xref: NCI:C9118 xref: NCI:C9306 is_a: DOID:0050687 ! cell type cancer is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms [Term] id: DOID:11151 name: cholecystolithiasis def: "Presence or formation of GALLSTONES in the GALLBLADDER." [MESH:D041761] xref: EFO:1000864 xref: MESH:D041761 xref: NCI:C34443 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:10211 ! cholelithiasis [Term] id: DOID:11153 name: miliaria rubra def: "A miliaria that is characterized by erythematous papules resulting in leakage of sweat into the deeper, subcorneal layers of the epidermis provoking a local inflammatory reaction. (DO)" [https://en.wikipedia.org/wiki/Miliaria "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO"] synonym: "prickly heat" EXACT [] xref: EFO:1000735 xref: ICD10CM:L74.0 xref: ICD9CM:705.1 is_a: DOID:1382 ! miliaria [Term] id: DOID:11155 name: hypohidrosis def: "A sweat gland disease that is characterized by reduced ability to sweat, has_symptom hyperthermia and dry skin of affected areas, and has_material_basis_in trauma to the sweat glands. (DO)" [https://en.wikipedia.org/wiki/Hypohidrosis "DO"] synonym: "oligohidrosis" EXACT [] xref: EFO:1000712 xref: ICD10CM:L74.4 xref: MESH:D007007 xref: NCI:C34718 is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:11156 name: anhidrosis def: "A hypohidrosis that is characterized by the inability to sweat and has_symptom hyperthermia and dry skin. (DO)" [https://en.wikipedia.org/wiki/Hypohidrosis "DO", https://my.clevelandclinic.org/health/diseases/15891-anhidrosis-lack-of-sweat "DO"] synonym: "absence of sweating" EXACT [] synonym: "adiaphoresis" EXACT [] synonym: "familial generalized anhidrosis with abnormal or absent sweat glands" NARROW [] synonym: "familial generalized anhidrosis with normal sweat glands" NARROW [] xref: EFO:1000670 xref: ICD9CM:705.0 xref: MIM:206600 xref: NCI:C34385 is_a: DOID:11155 ! hypohidrosis created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:1116 name: pertussis def: "A commensal bacterial infectious disease that results_in inflammation located_in respiratory tract, has_material_basis_in Bordetella pertussis, or has_material_basis_in Bordetella parapertussis, which produce toxins that paralyze the cilia of the respiratory epithelial cells. The infection is characterized by a prolonged, high-pitched, deeply indrawn breath (whoop). (DO)" [http://en.wikipedia.org/wiki/Pertussis "DO", http://www.merck.com/mmhe/sec23/ch272/ch272g.html#sec23-ch272-ch272g-800 "DO"] synonym: "pertusses" EXACT [] synonym: "respiratory Bordetella pertussis infection" EXACT [] synonym: "WC - whooping cough" EXACT [] synonym: "whooping cough" EXACT [] xref: EFO:0000650 xref: MESH:D014917 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:9007021 ! Bordetella Infections is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:11161 name: neonatal respiratory failure def: "A respiratory failure that is characterized by inadequate gas exchange by the respiratory system in neonates. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26781405/ "DO"] synonym: "respiratory failure of newborn" EXACT [] xref: ICD10CM:P28.5 xref: ICD9CM:770.84 is_a: DOID:11162 ! respiratory failure created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11162 name: respiratory failure def: "A lung disease characterized by inadequate gas exchange by the respiratory system. (DO)" [http://en.wikipedia.org/wiki/Respiratory_failure "DO"] synonym: "acute and chronic respiratory failure" EXACT [] synonym: "acute-on-chronic respiratory failure" EXACT [] synonym: "acute respiratory failure" NARROW [] synonym: "chronic respiratory failure" NARROW [] synonym: "Depressions, Ventilatory" EXACT [] synonym: "PROGRESSIVE PULMONARY FAILURE" NARROW [] synonym: "Respiratory Depression" EXACT [] synonym: "Respiratory Insufficiency" EXACT [] synonym: "respiratory insufficiency/failure" EXACT [] synonym: "Ventilatory Depression" EXACT [] xref: EFO:0009686 xref: EFO:0009842 xref: ICD10CM:J96.0 xref: ICD9CM:518.81 xref: MESH:D012131 xref: NCI:C27043 is_a: DOID:850 ! lung disease is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:11164 name: band keratopathy alt_id: MIM:217500 synonym: "band-shaped corneal dystrophy" EXACT [] synonym: "band-shaped keratopathy" EXACT [] xref: ICD10CM:H18.42 xref: ICD9CM:371.43 xref: MESH:C562399 xref: NCI:C118765 is_a: DOID:1237 ! corneal degeneration is_a: DOID:2566 ! corneal dystrophy [Term] id: DOID:11165 name: common wart def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in human papillomavirus (types 2 and 4). This infection is characterized by a raised wart with roughened surface, most common on hands, but can grow anywhere on the body. (DO)" [http://en.wikipedia.org/wiki/Wart "DO"] synonym: "EFO:0009662" EXACT [] xref: EFO:0009662 xref: NCI:C27087 xref: NCI:C5028 is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:11166 name: papillomavirus infectious disease def: "Papilloma virus infections commonly cause skin or mucous membrane growths (warts)." [] synonym: "chronic human papillomavirus infection" NARROW [] synonym: "HPV18I1" RELATED [] synonym: "HPV18I2" RELATED [] synonym: "human papilloma virus infection" NARROW [] synonym: "human papillomavirus infectious disease" NARROW [] synonym: "human papillomavirus type 18 integration site 1" RELATED [] synonym: "human papillomavirus type 18 integration site 2" RELATED [] synonym: "Papillomavirus Infection" EXACT [] synonym: "papillomavirus infections" EXACT [] synonym: "papillomavirus type 18 integration site 1" RELATED [] synonym: "papillomavirus type 18 integration site 2" RELATED [] xref: EFO:0001668 xref: EFO:0010060 xref: MESH:D030361 is_a: DOID:9000251 ! DNA Virus Infections is_a: DOID:9003373 ! Uterine Cervical Neoplasms is_a: DOID:9004886 ! Tumor Virus Infections created_by: mtutaj creation_date: 2019-10-16T08:47:32Z [Term] id: DOID:11168 name: anogenital venereal wart def: "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, or throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194d.html "DO"] synonym: "anogenital human papilloma virus infectious disease" EXACT [] synonym: "anogenital warts" EXACT [] synonym: "condyloma acuminatum" EXACT [] synonym: "Condylomata Acuminata" EXACT [] synonym: "Genital Wart" EXACT [] synonym: "Genital Warts" EXACT [] synonym: "genital wart virus infectious disease" EXACT [] synonym: "Venereal Wart" EXACT [] synonym: "Venereal Warts" EXACT [] xref: EFO:0007147 xref: ICD10CM:A63.0 xref: ICD9CM:078.11 xref: MESH:D003218 xref: NCI:C2960 xref: NCI:C4820 is_a: DOID:121 ! vaginal disease is_a: DOID:1529 ! penile disease is_a: DOID:3128 ! anus disease is_a: DOID:3178 ! skin papilloma is_a: DOID:9003767 ! Viral Sexually Transmitted Diseases [Term] id: DOID:11175 name: enophthalmos def: "Recession of the eyeball into the orbit." [MESH:D015841] xref: ICD10CM:H05.4 xref: ICD9CM:376.5 xref: MESH:D015841 xref: NCI:C79552 is_a: DOID:930 ! orbital disease [Term] id: DOID:11177 name: total internal ophthalmoplegia xref: ICD9CM:367.52 is_a: DOID:10034 ! eye accommodation disease is_a: DOID:238 ! pupil disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11180 name: non-suppurative otitis media def: "A otitis media which involves transudation of fluid in the middle ear without pus formation. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 "DO"] synonym: "nonsuppurative otitis media" EXACT [] xref: ICD10CM:H65 xref: ICD9CM:381.4 is_a: DOID:10754 ! otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11181 name: serous glue ear def: "A non-suppurative otitis media that is characterized by effusion with very thick and glue-like middle ear fluid which may cause conductive hearing impairment. (DO)" [http://en.wikipedia.org/wiki/Otitis_media#Otitis_media_with_effusion "DO"] xref: ICD10CM:H65.2 xref: ICD9CM:381.1 xref: RDO:9003852 is_a: DOID:11180 ! non-suppurative otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11184 name: acute conjunctivitis xref: ICD10CM:H10.02 xref: ICD9CM:372.03 is_a: DOID:6195 ! conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11186 name: allescheriosis def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Pseudallescheria boydii, which results_in_formation_of abscesses. (DO)" [https://pubmed.ncbi.nlm.nih.gov/934264/ "DO"] synonym: "petriellidosis" EXACT [] xref: ICD10CM:B48.2 xref: ICD9CM:117.6 is_a: DOID:0050292 ! primary systemic mycosis created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:11189 name: pulp degeneration xref: ICD10CM:K04.2 xref: ICD9CM:522.2 xref: NCI:C34962 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:11190 name: pseudomembranous conjunctivitis def: "A acute conjunctivitis which involves a fibrin-rich exudate formation on the surface of the conjunctiva. Infectious causes of pseudomembranes include Corynebacterium diphtheriae, streptococci, pneumococci, herpes simplex virus, adenovirus, Chlamydia and gonococci. Other causes include chemical (alkali) irritants, erythema multiforme, and ocular pemphigoid. (DO)" [http://bjo.bmj.com/content/55/5/312.full.pdf "DO", https://www.ncbi.nlm.nih.gov/pubmed/9400798 "DO"] xref: ICD10CM:H10.22 xref: ICD9CM:372.04 xref: NCI:C35196 xref: RDO:9003079 is_a: DOID:11184 ! acute conjunctivitis is_a: DOID:6195 ! conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11193 name: syndactyly def: "A synostosis that results_in the fusion of two or more digits. (DO)" [http://en.wikipedia.org/wiki/Syndactyly "DO", http://www.hmc.psu.edu/healthinfo/pq/poly.htm "DO", http://www.wheelessonline.com/ortho/syndactyly "DO"] synonym: "non-syndromic syndactyly" NARROW [] synonym: "polysyndactyly" EXACT [] synonym: "symphalangism" EXACT [] synonym: "symphalangy" EXACT [] synonym: "syndactylia" EXACT [] synonym: "syndactylias" EXACT [] synonym: "syndactylies" EXACT [] synonym: "webbing of digits" EXACT [] xref: GARD:13181 xref: ICD10CM:Q70 xref: ICD9CM:755.1 xref: MESH:D013576 xref: NCI:C125597 xref: NCI:C87125 xref: ORDO:90025 is_a: DOID:11971 ! synostosis is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:11195 name: acute laryngopharyngitis def: "An upper respiratory tract disease which involves inflammation of both larynx and pharynx. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=laryngopharyngitis "DO"] xref: ICD10CM:J06.0 xref: ICD9CM:465.0 xref: RDO:9004967 is_a: DOID:974 ! upper respiratory tract disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:11197 name: serous conjunctivitis except viral def: "A viral acute conjunctivitis that is characterized by conjunctival inflammation and serous discharge. (DO)" [https://www.aafp.org/afp/1998/0215/p735.html "DO"] xref: ICD10CM:H10.23 xref: ICD9CM:372.01 is_a: DOID:11184 ! acute conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11198 name: DiGeorge syndrome alt_id: MIM:188400 def: "A syndrome that has_material_basis_in a large deletion of the chromosome 22q11.2 region which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome "DO", https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome "DO"] synonym: "22q11.2 deletion syndrome" EXACT [] synonym: "22q11.2DS" EXACT [] synonym: "autosomal dominant Opitz G Bbb syndrome" EXACT [] synonym: "CATCH22" NARROW [] synonym: "CHROMOSOME 22q11.2 DELETION SYNDROME" EXACT [] synonym: "DGCR" NARROW [] synonym: "DGS" EXACT [] synonym: "DiGeorge's syndrome" EXACT [] synonym: "DiGeorge Anomaly" EXACT [] synonym: "DiGeorge Sequence" EXACT [] synonym: "Familial Third and Fourth Pharyngeal Pouch Syndrome" EXACT [] synonym: "hypoplasia of thymus and parathyroids" EXACT [] synonym: "pharyngeal pouch syndrome" EXACT [] synonym: "Sedlackova syndrome" EXACT [] synonym: "third and fourth pharyngeal pouch syndrome" NARROW [] synonym: "thymic aplasia syndrome" EXACT [] xref: GARD:10299 xref: ICD10CM:D82.1 xref: ICD9CM:279.11 xref: MESH:D004062 xref: NCI:C2989 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001460 ! 22q11 Deletion Syndrome [Term] id: DOID:11199 name: hypoparathyroidism def: "A parathyroid gland disease characterized by decreased function of parathyroid glands with underproduction of parathyroid hormone (PTH), leading to abnormally low ionized calcium levels in the blood. (DO)" [http://en.wikipedia.org/wiki/Hypoparathyroidism "DO", http://ghr.nlm.nih.gov/glossary=hypoparathyroidism "DO", http://www.mayoclinic.org/diseases-conditions/hypoparathyroidism/basics/definition/con-20030780?_ga=1.221847067.2017809229.1415219956 "DO"] synonym: "idiopathic hypoparathyroidism" EXACT [] xref: EFO:0009451 xref: GARD:6733 xref: ICD10CM:E20 xref: ICD9CM:252.1 xref: MESH:D007011 xref: NCI:C78350 xref: ORDO:2238 is_a: DOID:11201 ! parathyroid gland disease [Term] id: DOID:112 name: esophageal varix def: "Dilated blood vessels in the ESOPHAGUS or GASTRIC FUNDUS that shunt blood from the portal circulation (PORTAL SYSTEM) to the systemic venous circulation. Often they are observed in individuals with portal hypertension (HYPERTENSION, PORTAL)." [MESH:D004932] synonym: "Bleeding esophageal varices" EXACT [SNOMEDCT_2005_07_31:17709002] synonym: "Bleeding oesophageal varices" EXACT [SNOMEDCT_2005_07_31:236067006] synonym: "Esophageal and Gastric Varices" EXACT [] synonym: "esophageal varices" EXACT [] synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [] synonym: "esophageal varices with bleeding" EXACT [] synonym: "esophageal varices with bleeding in disease EC" EXACT [] synonym: "esophageal varices without bleeding" EXACT [] synonym: "esophageal varices without mention of bleeding" EXACT [] synonym: "gastric varices" EXACT [] synonym: "Gastric Varix" EXACT [] xref: EFO:0009545 xref: GARD:6384 xref: ICD10CM:I85.01 xref: ICD9CM:456.0 xref: ICD9CM:456.2 xref: ICD9CM:456.20 xref: MESH:D004932 xref: MONDO:0001221 xref: NCI:C53506 xref: NCI:C78282 is_a: DOID:10762 ! portal hypertension is_a: DOID:6050 ! esophageal disease is_a: DOID:866 ! vein disease [Term] id: DOID:11200 name: T cell deficiency alt_id: DOID:613 def: "A primary immunodeficiency disease that is characterized by decreased numbers of circulating or functioning T cells. (DO)" [https://en.wikipedia.org/wiki/T_cell_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/18755723 "DO"] synonym: "T-cell Immunodeficiency" EXACT [] synonym: "T-lymphocyte deficiency" EXACT [] synonym: "T-lymphocyte immunodeficiency" EXACT [] xref: NCI:C27145 xref: NCI:C27872 is_a: DOID:612 ! primary immunodeficiency disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11201 name: parathyroid gland disease def: "An endocrine system disease that is located_in the parathyroid gland. (DO)" [http://en.wikipedia.org/wiki/Parathyroid_disease "DO"] synonym: "disease of parathyroid glands" EXACT [] synonym: "Parathyroid Disease" EXACT [] synonym: "parathyroid diseases" EXACT [] synonym: "Parathyroid Disorder" EXACT [] synonym: "parathyroid disorders" EXACT [] xref: EFO:0005754 xref: ICD10CM:E21.5 xref: ICD9CM:252.9 xref: MESH:D010279 xref: NCI:C26844 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:11202 name: primary hyperparathyroidism def: "A hyperparathyroidism that is characterized by overproduction of parathyroid hormone and elevated levels of calcium in the blood. (DO)" [https://rarediseases.org/rare-diseases/primary-hyperparathyroidism/ "DO"] synonym: "familial benign hypercalcemia" EXACT [SNOMEDCT_2005_07_31:190868007] synonym: "familial primary hyperparathyroidism" EXACT [] synonym: "primary hyperparathyroidisms" EXACT [] xref: EFO:0002620 xref: EFO:0008519 xref: GARD:8612 xref: ICD10CM:E21.0 xref: ICD9CM:252.01 xref: MESH:D049950 xref: NCI:C48280 xref: ORDO:99878 is_a: DOID:13543 ! hyperparathyroidism [Term] id: DOID:11203 name: Angelucci's syndrome synonym: "acute atopic conjunctivitis" EXACT [SNOMEDCT_2005_07_31:193863004] synonym: "Angelucci syndrome" EXACT [] xref: ICD10CM:H10.1 xref: ICD9CM:372.05 xref: NCI:C34353 xref: RDO:9002737 is_a: DOID:11204 ! allergic conjunctivitis is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11204 name: allergic conjunctivitis def: "A chronic conjunctivitis that is an inflammation of the conjunctiva involing red, itchy, and watery eyes a resulting from an exposure to an allergen or an irritant. (DO)" [http://en.wikipedia.org/wiki/Allergic_conjunctivitis "DO"] synonym: "Allergic Conjunctivitides" EXACT [] synonym: "Atopic Conjunctivitides" EXACT [] synonym: "Atopic Conjunctivitis" EXACT [] xref: EFO:0007141 xref: MESH:D003233 xref: NCI:C34506 is_a: DOID:2475 ! chronic conjunctivitis is_a: DOID:9002850 ! Immediate Hypersensitivity [Term] id: DOID:11206 name: opioid abuse def: "A substance abuse that involves the recurring use of opioid drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Opioid "DO"] synonym: "opioid use disorder" EXACT [] xref: EFO:0010702 xref: ICD10CM:F11.1 xref: ICD9CM:305.5 is_a: DOID:302 ! substance abuse created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:11211 name: buphthalmos alt_id: MIM:231300 def: "A hydrophthalmos characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure, increased corneal diameter, and swelling of the globe and has_symptom early vision loss, photophobia, blepharospasm, tearing, increased corneal diameter, increased corneal thickness, and enlarged globe. Buphthalmos is caused by severe congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1135/ "DO"] synonym: "BUPHTHALMOS GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET" NARROW [] synonym: "congenital glaucoma" BROAD [] synonym: "CYP1B1-RELATED CONDITION" BROAD [] synonym: "CYP1B1-RELATED DISORDER" BROAD [] synonym: "GLAUCOMA 3, PRIMARY CONGENITAL, A, DIGENIC" NARROW [] synonym: "GLAUCOMA, PRIMARY OPEN ANGLE, JUVENILE-ONSET" NARROW [] synonym: "GLC3" EXACT [] synonym: "GLC3A" EXACT [] synonym: "primary congenital glaucoma 3, A" EXACT [] synonym: "primary congenital glaucoma 3A" EXACT [] synonym: "simple buphthalmos" EXACT [] xref: ICD9CM:743.21 xref: MESH:C565547 xref: NCI:C148260 is_a: DOID:0050593 ! primary congenital glaucoma is_a: DOID:11212 ! hydrophthalmos [Term] id: DOID:11212 name: hydrophthalmos def: "A primary congenital glaucoma characterized by early onset glaucoma in one or both eyes with elevated intraocular pressure and increased corneal diameter and has_symptom early vision loss, increased corneal diameter, and increased corneal thickness. Hydrophthalmus is caused by congenital defects of the trabecular meshwork and anterior chamber angle that block aqueous outflow and raises intraocular pressure, leading to optic nerve atrophy and early vision loss. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1135/ "DO"] xref: EFO:1000968 xref: ICD10CM:Q15.0 xref: MESH:D006871 xref: NCI:C50648 is_a: DOID:0050593 ! primary congenital glaucoma is_a: DOID:1067 ! open-angle glaucoma is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:11213 name: acute contagious conjunctivitis def: "A bacterial acute conjunctivitis that is characterized by highly contagious conjunctival hypermia and mucopurulent discharge and has_material_basis_in Hemophilius Aegypticus. (DO)" [https://www.aafp.org/afp/1998/0215/p735.html "DO"] synonym: "Contagious opthalmia" EXACT [SNOMEDCT_2005_07_31:399047004] synonym: "Pink eye" EXACT [SNOMEDCT_2005_07_31:267734002] synonym: "Pinkeye" EXACT [SNOMEDCT_2005_07_31:399219006] xref: NCI:C35704 xref: RDO:9003083 is_a: DOID:11184 ! acute conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11217 name: chronic tympanitis xref: ICD10CM:H73.1 xref: ICD9CM:384.1 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:11219 name: conjunctival folliculosis def: "An acute conjunctivitis characterized by conjunctival folliculosis and follicular hypertrophy of the palpebral conjunctivae. (DO)" [https://www.ajo.com/article/S0002-9394(21)90838-9/abstract "DO"] synonym: "acute follicular conjunctivitis" EXACT [ICD9CM_2006:372.02] xref: ICD10CM:H10.01 xref: ICD9CM:372.02 xref: RDO:9003084 is_a: DOID:11184 ! acute conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11223 name: small intestine diverticulitis synonym: "Diverticulosis of small intestine with hemorrhage" EXACT [] xref: RDO:9003925 is_a: DOID:7475 ! diverticulitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11227 name: acute hemorrhagic conjunctivitis def: "A viral infectious disease that results in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted by contaminated fomites or transmitted by contact with contaminated hands. The infection has symptom vascular dilation, has symptom eyelid edema, has symptom photophobia, has symptom redness of the eyes, has symptom watering of the eye, has symptom conjunctival congestion, and has symptom superficial punctate epithelial keratitis. (DO)" [https://en.wikipedia.org/wiki/Acute_hemorrhagic_conjunctivitis "DO"] synonym: "acute hemorrhagic conjunctivitides" EXACT [] synonym: "Apollo disease" EXACT [] synonym: "epidemic hemorrhagic conjunctivitis" EXACT [] xref: EFO:0007131 xref: ICD9CM:077.4 xref: MESH:D003232 xref: NCI:C34505 is_a: DOID:9000608 ! Viral Conjunctivitis is_a: DOID:9006549 ! Enterovirus Infections [Term] id: DOID:1123 name: spondyloarthropathy def: "Heterogeneous group of arthritic diseases sharing clinical and radiologic features. They are associated with the HLA-B27 ANTIGEN and some with a triggering infection. Most involve the axial joints in the SPINE, particularly the SACROILIAC JOINT, but can also involve asymmetric peripheral joints. Subsets include ANKYLOSING SPONDYLITIS; REACTIVE ARTHRITIS; PSORIATIC ARTHRITIS; and others." [MESH:D025242] synonym: "spondarthropathy" EXACT [] synonym: "spondylarthrosis" EXACT [] synonym: "spondyloarthropathies" EXACT [] xref: EFO:0000706 xref: GARD:4971 xref: MESH:D025242 is_a: DOID:381 ! arthropathy [Term] id: DOID:11230 name: acute orbital inflammation synonym: "acute inflammation of orbit" EXACT [ICD9CM_2006:376.0] xref: ICD10CM:H05.0 xref: ICD9CM:376.0 xref: RDO:9002989 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11231 name: orbital periostitis def: "An acute orbital inflammation that is characterized by inflammation of the periosteum of the orbit. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919808/ "DO"] xref: ICD10CM:H05.03 xref: ICD9CM:376.02 xref: RDO:9002992 is_a: DOID:11230 ! acute orbital inflammation is_a: DOID:9957 ! periostitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11232 name: orbital osteomyelitis def: "An acute orbital inflammation that is characterized by inflammation of the medullary cavity of orbital bone that eventually spreads to the periosteum. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3249811/ "DO"] xref: ICD10CM:H05.02 xref: ICD9CM:376.03 xref: RDO:9002990 is_a: DOID:11230 ! acute orbital inflammation created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11233 name: orbital tenonitis def: "An acute orbital inflammation that is characterized by inflammation of the capsule of Tenon. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2884909/ "DO"] synonym: "tenonitis" EXACT [] xref: ICD9CM:376.04 xref: RDO:9002994 is_a: DOID:11230 ! acute orbital inflammation created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11234 name: orbital cellulitis def: "An acute orbital inflammation that is characterized by painful orbital mass and has_symptom eyelid edema, has_symptom erythema, has_symptom chemiosis, has_symptom proptosis, has_symptom blurred vision, has_symptom headache, has_symptom fever and has_symptom double vision. (DO)" [https://en.wikipedia.org/wiki/Tenonitis "DO"] synonym: "Orbital Cellulitides" EXACT [] xref: EFO:1001076 xref: ICD10CM:H05.01 xref: ICD9CM:376.01 xref: MESH:D054517 xref: NCI:C99000 is_a: DOID:11230 ! acute orbital inflammation is_a: DOID:3488 ! cellulitis is_a: DOID:930 ! orbital disease [Term] id: DOID:11235 name: adhesive otitis media def: "An auditory system disease that is characterized by a thin retracted ear drum becomes sucked into the middle-ear space and stuck (i.e., adherent) to the ossicles and other bones of the middle ear. (DO)" [https://en.wikipedia.org/wiki/Otitis_media#Adhesive_otitis_media "DO"] synonym: "chronic adhesive otitis media" EXACT [] xref: ICD10CM:H74.1 xref: ICD9CM:385.1 xref: RDO:9004867 is_a: DOID:10754 ! otitis media created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11239 name: appendix cancer def: "A intestinal cancer that is located_in the appendix. (DO)" [http://en.wikipedia.org/wiki/Vermiform_appendix "DO"] synonym: "appendiceal cancer" EXACT [] synonym: "cancer of appendix" EXACT [] synonym: "cancer of the appendix" EXACT [] synonym: "malignant neoplasm of appendix vermiformis" EXACT [] synonym: "malignant tumor of appendix" EXACT [] synonym: "malignant tumor of the appendix" EXACT [] xref: ICD10CM:C18.1 xref: ICD9CM:153.5 xref: NCI:C9333 is_a: DOID:10155 ! intestinal cancer is_a: DOID:11240 ! appendiceal neoplasm is_a: DOID:60000 ! appendix disease [Term] id: DOID:11240 name: appendiceal neoplasm alt_id: RDO:0004891 def: "Tumors or cancer of the APPENDIX." [MESH:D001063] synonym: "appendiceal neoplasms" EXACT [] synonym: "Appendix Adenoma" NARROW [] synonym: "appendix neoplasm" EXACT [] synonym: "Appendix Villous Adenoma" NARROW [] synonym: "neoplasm of appendix" EXACT [] xref: EFO:0003880 xref: EFO:1000089 xref: EFO:1000093 xref: MESH:D001063 xref: NCI:C4434 is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:9003694 ! Cecal Neoplasms [Term] id: DOID:11241 name: appendix lymphoma synonym: "appendiceal lymphoma" EXACT [] xref: NCI:C5513 is_a: DOID:0060058 ! lymphoma is_a: DOID:11239 ! appendix cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:11242 name: plethora of newborn synonym: "neonatal polycythemia" EXACT [] xref: ICD10CM:P61.1 xref: ICD9CM:776.4 xref: NCI:C27069 xref: RDO:9002582 is_a: DOID:8432 ! polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:11243 name: anemia of prematurity def: "A neonatal anemia that is characterized by anemia experienced by preterm infants in the early postnatal weeks. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20463861/ "DO", https://www.nature.com/articles/s41372-021-00992-0 "DO"] xref: ICD10CM:P61.2 xref: ICD9CM:776.6 xref: MONDO:0001239 xref: NCI:C97167 is_a: DOID:11244 ! neonatal anemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:11244 name: neonatal anemia def: "An anemia that is characterized by a lower red blood cell count than normal in neonates. (DO)" [https://my.clevelandclinic.org/health/diseases/15698-anemia-in-newborns "DO"] synonym: "anemia neonatorum" EXACT [] synonym: "neonatal anaemia" EXACT [] synonym: "neonatal anemias" EXACT [] xref: MESH:D000751 xref: MONDO:0001240 is_a: DOID:2355 ! anemia is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:11245 name: transient neonatal neutropenia xref: ICD10CM:P61.5 xref: ICD9CM:776.7 is_a: DOID:1227 ! neutropenia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11246 name: DIC in newborn synonym: "Disseminated intravascular coagulation in newborn" EXACT [] xref: ICD10CM:P60 xref: ICD9CM:776.2 xref: NCI:C111856 xref: RDO:9002937 is_a: DOID:11247 ! disseminated intravascular coagulation created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11247 name: disseminated intravascular coagulation def: "A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism may arise from any of a number of disorders. A majority of the patients manifest skin lesions, sometimes leading to PURPURA FULMINANS." [MESH:D004211] synonym: "Consumption Coagulopathies" EXACT [] synonym: "Consumption Coagulopathy" EXACT [] synonym: "Defibrination syndrome" EXACT [ICD9CM_2006:286.6] synonym: "DIC" EXACT [NCI2004_11_17:C2992] synonym: "DIC with the fibrinolytic phenotype" NARROW [] synonym: "Diffuse or disseminated intravascular coagulation" EXACT [MTHICD9_2006:286.6] synonym: "Disseminated Intravascular Coagulations" EXACT [] xref: ICD9CM:286.6 xref: MESH:D004211 xref: NCI:C2992 xref: RDO:0001199 is_a: DOID:1247 ! blood coagulation disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:2452 ! thrombophilia [Term] id: DOID:11249 name: vitamin K deficiency bleeding def: "A nutritional deficiency disease that is characterized by easy bleeding due to an inability to form blood clots caused by vitamin K deficiency, occurs most commonly in newborns, and has_material_basis_in deficiency of vitamin K secondary to liver prematurity, lack of vitamin K in a breastmilk diet, largely sterile gut, malabsorption, diarrhea, chronic illness, menorrhagia, chronic kidney disease, and some medications. (DO)" [https://en.wikipedia.org/wiki/Haemorrhagic_disease_of_the_newborn "DO", https://medlineplus.gov/ency/article/007320.htm "DO", https://www.cdc.gov/ncbddd/vitamink/facts.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5592002/ "DO"] synonym: "deficiency of vitamin K" EXACT [] synonym: "hemorrhagic disease of newborn" EXACT [] synonym: "newborn hemorrhagic disease" EXACT [] synonym: "newborn hemorrhagic diseases" EXACT [] synonym: "vitamin K deficiencies" EXACT [] synonym: "vitamin K deficiency" EXACT [] synonym: "vitamin K deficiency hemorrhagic disease" EXACT [] xref: EFO:1000964 xref: ICD10CM:E56.1 xref: ICD9CM:269.0 xref: MESH:D006475 xref: MESH:D014813 xref: NCI:C99108 is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9004153 ! Infant Nutrition Disorders is_a: DOID:9004644 ! Avitaminosis [Term] id: DOID:11252 name: microcytic anemia def: "An anemia that is characterized by a low normal mean corpuscular volume (MCV) (less than 80 fL) and is defined by the presence of small, often hypochromic, red blood cells in a peripheral blood smear. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1578956/ "DO"] synonym: "Anemia, Hypochromic Microcytic, with Defect in Iron Metabolism" EXACT [] synonym: "IRIDA" EXACT [] synonym: "Iron-Handling Disorder, Hereditary" EXACT [] synonym: "Iron-Refractory Iron Deficiency Anemia" EXACT [] synonym: "Pseudo-Iron-Deficiency Anemia" EXACT [] synonym: "TMPRSS6-RELATED CONDITION" EXACT [] xref: MESH:C562385 xref: MIM:206200 xref: MONDO:0001245 xref: NCI:C35141 is_a: DOID:2355 ! anemia [Term] id: DOID:11254 name: Brill-Zinsser disease def: "An epidemic typhus that is a mild form of the disease, which recurs in someone after a long period of latency due to immunosuppression, malnutrition or other illnesses. (DO)" [http://en.wikipedia.org/wiki/Epidemic_typhus "DO"] synonym: "Brill's disease" EXACT [ICD9CM_2006:081.1] synonym: "Brill disease" EXACT [] synonym: "Brills disease" EXACT [] synonym: "latent typhus" RELATED [] synonym: "recrudescent typhus" EXACT [MTHICD9_2006:081.1] synonym: "sporadic typhus" RELATED [] xref: EFO:0007182 xref: ICD10CM:A75.1 xref: ICD9CM:081.1 xref: RDO:9002599 is_a: DOID:0050480 ! epidemic typhus created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:11256 name: typhus def: "A primary bacterial infectious disease that refers to a group of diseases, located in endothelial cells of the small venous, arterial, and capillary vessels, has_material_basis_in Rickettsia bacteria, which are transmitted by lice, transmitted by fleas, and transmitted by mites. (DO)" [https://en.wikipedia.org/wiki/Typhus "DO"] synonym: "classical typhus" RELATED [] synonym: "European typhus" RELATED [] synonym: "exanthematic typhus fever" EXACT [] synonym: "exanthematous typhus" RELATED [] synonym: "famine fever" RELATED [] synonym: "flea typhus" EXACT [] synonym: "Hospital fever" RELATED [] synonym: "louse-borne [epidemic] typhus" EXACT [] synonym: "Mexican typhus" RELATED [] synonym: "Moscow typhus" EXACT [] synonym: "Petechial fever" RELATED [] synonym: "Prison fever" RELATED [] synonym: "rat flea typhus" RELATED [] synonym: "ship fever" RELATED [] synonym: "shop typhus" RELATED [] synonym: "typhus exanthematique" RELATED [] synonym: "typhus fever" EXACT [] xref: EFO:0009117 xref: GARD:7833 xref: ICD10CM:A75.0 xref: ICD10CM:A75.2 xref: ICD10CM:A75.9 xref: ICD9CM:080 xref: ICD9CM:081.0 xref: ICD9CM:081.9 xref: NCI:C84689 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9007347 ! Rickettsia Infections created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:11257 name: social phobia def: "A phobic disorder that involves social anxiety occurring only in specific public or social situations, interactions with others or being evaluated or scrutinized by other people. (DO)" [http://en.wikipedia.org/wiki/Social_phobia "DO"] synonym: "social anxiety disorder" EXACT [] synonym: "social anxiety disorders" EXACT [] synonym: "social evaluation fear" EXACT [] synonym: "social evaluation phobia" EXACT [] synonym: "social phobias" EXACT [] synonym: "sociophobia" EXACT [] synonym: "sociophobias" EXACT [] xref: EFO:1001917 xref: ICD10CM:F40.1 xref: ICD9CM:300.23 xref: MESH:D000072861 xref: NCI:C34927 is_a: DOID:591 ! phobic disorder [Term] id: DOID:11258 name: cat-scratch disease def: "A bartonellosis that results_in infection located_in lymph node, has_material_basis_in Bartonella henselae or has_material_basis_in Bartonella clarridgeiae, which are transmitted_by scratch or bite of a kitten, or transmitted_by contact of animal's saliva with an eye or through broken skin. The infection has_symptom regional lymphadenopathy, has_symptom headache, has_symptom chills, has_symptom backache, and has_symptom abdominal pain. (DO)" [http://en.wikipedia.org/wiki/Cat_scratch_disease "DO", http://kidshealth.org/parent/infections/bacterial_viral/cat_scratch.html# "DO"] synonym: "benign lymphoreticulosis" EXACT [] synonym: "catscratch disease" EXACT [] synonym: "cat scratch fever" EXACT [] synonym: "Debre's Syndrome" EXACT [] synonym: "Debre-Mollaret Syndrome" EXACT [] synonym: "Foshay-Mollaret Cat Scratch Fever" EXACT [] synonym: "inoculation lymphoreticuloses" EXACT [] synonym: "Inoculation Lymphoreticulosis" EXACT [] synonym: "inoculative lymphoreticuloses" EXACT [] synonym: "inoculative lymphoreticulosis" EXACT [] xref: EFO:0007195 xref: ICD10CM:A28.1 xref: ICD9CM:078.3 xref: MESH:D002372 xref: NCI:C84620 is_a: DOID:11102 ! bartonellosis is_a: DOID:1602 ! lymphadenitis [Term] id: DOID:11260 name: rabies def: "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. (DO)" [http://en.wikipedia.org/wiki/Rabies "DO", https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/rabies "DO"] synonym: "hydrophobia" EXACT [] synonym: "lyssa" EXACT [] synonym: "lyssas" EXACT [] xref: GARD:7516 xref: ICD10CM:A82 xref: ICD9CM:071 xref: MESH:D011818 xref: NCI:C28182 is_a: DOID:9008603 ! Rhabdoviridae Infections [Term] id: DOID:11262 name: ornithosis def: "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Chlamydia psittaci, which is transmitted_by inhaling aerosolized dried droppings or transmitted_by contact with infected birds. The infection has_symptom fever, has_symptom headache, has_symptom rash, has_symptom chills, and has_symptom pneumonia. (DO)" [http://en.wikipedia.org/wiki/Psittacosis "DO"] synonym: "ornithoses" EXACT [] synonym: "psittacoses" EXACT [] synonym: "psittacosis" EXACT [] xref: EFO:0007410 xref: ICD10CM:A70 xref: ICD9CM:073 xref: MESH:D009956 xref: NCI:C34873 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008527 ! Chlamydophila Infections [Term] id: DOID:11263 name: chlamydia def: "A commensal bacterial infectious disease that is caused by Chlamydia trachomatis. (DO)" [http://en.wikipedia.org/wiki/Chlamydia_infection "DO"] synonym: "Chlamydia Infection" EXACT [] synonym: "chlamydia infections" EXACT [] synonym: "chlamydial disease" EXACT [] synonym: "chlamydial Infection" EXACT [] synonym: "chlamydia trachomatis infectious disease" EXACT [] xref: EFO:0007205 xref: MESH:D002690 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases is_a: DOID:9008090 ! Chlamydiaceae Infections created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:11265 name: trachoma def: "A commensal bacterial infectious disease that results_in infection located_in eye, has_material_basis_in Chlamydia trachomatis (A, B, Ba and C serovars), which is transmitted_by contact with eye discharge from the infected person and transmitted_by congenital method. The infection causes eyelid to turn inward which makes eyelashes to scratch the cornea. (DO)" [http://en.wikipedia.org/wiki/Trachoma "DO", http://www.cdc.gov/ncidod/dbmd/diseaseinfo/trachoma_t.htm "DO", http://www.who.int/blindness/causes/priority/en/index2.html "DO"] synonym: "active stage trachoma" EXACT [] synonym: "Egyptian ophthalmia" EXACT [] synonym: "trachoma dubium" EXACT [] synonym: "trachomas" EXACT [] xref: GARD:10374 xref: ICD10CM:A71 xref: ICD10CM:A71.0 xref: ICD10CM:A71.1 xref: ICD9CM:076 xref: ICD9CM:076.0 xref: ICD9CM:076.1 xref: MESH:D014141 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:10124 ! corneal disease is_a: DOID:11263 ! chlamydia is_a: DOID:9700 ! bacterial conjunctivitis [Term] id: DOID:11266 name: Hantavirus hemorrhagic fever with renal syndrome def: "A viral infectious disease that is a hemorrhagic fever, located in kidney, has_material_basis_in Orthohantavirus dobravaense, has_material_basis_in Orthohantavirus hantanense, has_material_basis_in Orthohantavirus puumalaense, has_material_basis_in Orthohantavirus seoulense, which are carried and transmitted by rodents. The infection has symptom headache, has symptom fever, has symptom muscle pains, has symptom facial flush, has symptom petechiae, has symptom proteinuria, and has symptom renal failure. (DO)" [http://whqlibdoc.who.int/bulletin/1983/Vol61-No2/bulletin_1983_61%282%29_269-275.pdf "DO", http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/hfrs.htm "DO", https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome "DO"] synonym: "epidemic hemorrhagic fever" EXACT [] synonym: "epidemic hemorrhagic fevers" EXACT [] synonym: "hemorrhagic fever with renal syndrome" EXACT [] synonym: "hemorrhagic nephroso-nephritides" EXACT [] synonym: "hemorrhagic nephroso nephritis" EXACT [] synonym: "hemorrhagic nephrosonephritis" EXACT [] synonym: "HFRS" EXACT [] synonym: "Puumala virus nephropathy" EXACT [] synonym: "Russian hemorrhagic fever" EXACT [] xref: EFO:0007299 xref: ICD10CM:A98.5 xref: ICD9CM:078.6 xref: MESH:D006480 xref: NCI:C84753 is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease is_a: DOID:9007401 ! Viral Hemorrhagic Fevers is_a: DOID:9007533 ! Hantavirus Infections [Term] id: DOID:11267 name: keratomalacia synonym: "Retinol Deficiency" EXACT [] synonym: "Xerotic Keratitis" EXACT [] xref: GARD:6825 xref: ICD10CM:H18.44 xref: ICD9CM:371.45 xref: MESH:C536156 is_a: DOID:1237 ! corneal degeneration is_a: DOID:9008550 ! Vitamin A Deficiency [Term] id: DOID:11269 name: chronic apical periodontitis xref: ICD9CM:522.6 is_a: DOID:823 ! periapical periodontitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11277 name: Plummer's disease synonym: "Plummer disease" EXACT [] synonym: "toxic nodular goiter" EXACT [] xref: EFO:0009191 xref: ICD10CM:E05.2 xref: ICD9CM:242.3 xref: NCI:C35171 is_a: DOID:7998 ! hyperthyroidism created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11282 name: solar retinopathy synonym: "solar retinitis" EXACT [] xref: ICD10CM:H31.02 xref: ICD9CM:363.31 is_a: DOID:11086 ! chorioretinal scar created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11283 name: peripheral scars of retina xref: ICD9CM:363.34 is_a: DOID:11086 ! chorioretinal scar created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11285 name: tick paralysis def: "A tick infestation that is characterized by an acute, ascending, flaccid motor paralysis, which is caused by the introduction of a neurotoxin into humans during attachment and feeding by the females of several tick species such as Dermacentor andersoni, Dermacentor variabilis, Amblyomma americanum, Amblyomma maculatum, Ixodes scapularis, Ixodes pacificus, Ixodes holocyclus, Rhipicephalus sanguineus and Otobius megnini. The symptoms include local inflammation, edema and hemorrhage. (DO)" [http://www.cdc.gov/mmwr/preview/mmwrhtml/00040975.htm "DO", http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/10428629 "DO"] synonym: "Tick Paralyses" EXACT [] xref: EFO:0007509 xref: GARD:7771 xref: MESH:D013985 is_a: DOID:4109 ! tick infestation is_a: DOID:9007773 ! Tick Toxicoses [Term] id: DOID:11289 name: ventilation pneumonitis def: "An extrinsic allergic alveolitis caused by inhalation of antigens from thermophilic actinomycetes species growing in air conditioners and humidifiers. Fungi like Aureobasidium sp and Candida albicans that survive in the contaminated water in humidifiers and air conditioners are also known to cause the disease. (DO)" [http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf "DO"] synonym: "Air-conditioner and humidifier lung" EXACT [SNOMEDCT_2005_07_31:195990006] synonym: "Humidifier lung" EXACT [SNOMEDCT_2005_07_31:48347002] xref: ICD10CM:J67.7 xref: ICD9CM:495.7 xref: RDO:9002683 is_a: DOID:841 ! extrinsic allergic alveolitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:1129 name: pituitary apoplexy def: "The sudden loss of blood supply to the PITUITARY GLAND, leading to tissue NECROSIS and loss of function (PANHYPOPITUITARISM). The most common cause is hemorrhage or INFARCTION of a PITUITARY ADENOMA. It can also result from acute hemorrhage into SELLA TURCICA due to HEAD TRAUMA; INTRACRANIAL HYPERTENSION; or other acute effects of central nervous system hemorrhage. Clinical signs include severe HEADACHE; HYPOTENSION; bilateral visual disturbances; UNCONSCIOUSNESS; and COMA." [MESH:D010899] xref: EFO:1001108 xref: MESH:D010899 xref: NCI:C26853 is_a: DOID:1130 ! pituitary infarct is_a: DOID:9003104 ! Intracranial Hemorrhages [Term] id: DOID:11294 name: arteriovenous malformation def: "A hemangioma that is characterized by a configuration of blood vessels that shunts arterial blood directly into veins by bypassing the capillary system. (DO)" [http://en.wikipedia.org/wiki/Arteriovenous_malformation "DO"] synonym: "arteriovenous hemangioma" EXACT [] synonym: "arteriovenous malformations" EXACT [] synonym: "cirsoid aneurysm" EXACT [] synonym: "racemose aneurysm" EXACT [] synonym: "racemose angioma" EXACT [] synonym: "racemose hemangioma" EXACT [] xref: ICD10CM:I77.0 xref: ICDO:9123/0 xref: MESH:D001165 xref: NCI:C2882 is_a: DOID:255 ! hemangioma is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:11295 name: retinal microaneurysm def: "Aneurysm of the MICROVASCULATURE. Charcot?Bouchard aneurysms are aneurysms of the brain vasculature which is a common cause of CEREBRAL HEMORRHAGE. Retinal microaneurysm is an early diagnostic sign of DIABETIC RETINOPATHY." [MESH:D000071071] synonym: "Charcot Bouchard Aneurysm" EXACT [] synonym: "Charcot Bouchard Aneurysms" EXACT [] synonym: "microaneurysm" EXACT [] synonym: "Microaneurysms" EXACT [] synonym: "Miliary Aneurysm" EXACT [] synonym: "Miliary Aneurysms" EXACT [] synonym: "Retinal Microaneurysms" EXACT [] xref: ICD9CM:362.14 xref: MESH:D000071071 xref: RDO:0016073 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:11299 name: vertebral artery occlusion synonym: "occlusion and stenosis of vertebral artery" EXACT [] xref: ICD10CM:I65.0 xref: ICD9CM:433.2 xref: RDO:9004098 is_a: DOID:0050828 ! artery disease is_a: DOID:5976 ! occlusion precerebral artery created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:1130 name: pituitary infarct synonym: "pituitary infarction" EXACT [] xref: NCI:C27117 is_a: DOID:3646 ! necrosis of pituitary created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11302 name: cercarial dermatitis def: "A schistosomiasis that is a short-term, cutaneous inflammatory response associated with penetration of the skin by cercariae of bird schistosome, Austrobilharzia variglandis. The disease has symptom skin reddening, has symptom skin itching, in the water or immediately after emerging and has symptom itchy, raised papules, occur within hours of infection. (DO)" [https://en.wikipedia.org/wiki/Swimmer%27s_itch "DO", https://www.cdc.gov/parasites/swimmersitch/index.html "DO"] synonym: "cutaneous schistosomiasis" EXACT [] synonym: "sea bather's eruption" EXACT [] xref: GARD:9747 xref: ICD10CM:B65.3 xref: ICD9CM:120.3 xref: NCI:C34457 xref: RDO:9002363 is_a: DOID:1395 ! schistosomiasis is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:11312 name: Mobitz type II atrioventricular block synonym: "Mobitz II atrioventricular block" EXACT [MTHICD9_2006:426.12] xref: ICD9CM:426.12 xref: NCI:C62018 xref: RDO:9003342 is_a: DOID:0050822 ! second-degree atrioventricular block created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11315 name: African histoplasmosis def: "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted by airborne spores and results in formation of nodules, results in formation of ulcers and results in formation of osteolytic bone lesions. (DO)" [http://www.cdc.gov/eid/content/13/11/1647.htm "DO"] xref: ICD9CM:115.10 xref: RDO:9002327 is_a: DOID:1731 ! histoplasmosis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11316 name: histoplasmosis retinitis synonym: "histoplasmosis with retinitis" EXACT [] xref: ICD9CM:115.92 xref: RDO:9002693 is_a: DOID:3612 ! retinitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11320 name: Kyasanur forest disease def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Kyasanur forest disease virus, which is transmitted by Haemaphysalis spinigera tick bite. The infection has symptom fever, has symptom headache, has symptom stiffness of the neck, has symptom severe muscle pain, has symptom cough, has symptom dehydration, and has symptom bleeding problems. (DO)" [http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/kyasanur.htm "DO"] xref: GARD:8257 xref: ICD10CM:A98.2 xref: ICD9CM:065.2 xref: MESH:D007733 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers [Term] id: DOID:11328 name: schizophreniform disorder def: "A psychotic disorder that involves schizophrenia symptoms over time period of one month. (DO)" [http://en.wikipedia.org/wiki/Schizophreniform_disorder "DO"] synonym: "schizophreniform disorders" EXACT [] xref: ICD10CM:F20.81 xref: ICD9CM:295.4 xref: NCI:C94376 is_a: DOID:2468 ! psychotic disorder is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11329 name: ainhum alt_id: MIM:103400 def: "A connective tissue disease that results in increasing fibrous constriction and ultimately in spontaneous amputation of the toes and especially the little toes. A painful constriction of the base of the fifth toe frequently followed by bilateral spontaneous amputation (autoamputation) a few years later. (DO)" [http://en.wikipedia.org/wiki/Ainhum "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ainhum "DO"] synonym: "dactylolysis spontanea" EXACT [] synonym: "spontaneous dactylolyses" EXACT [] synonym: "spontaneous dactylolysis" EXACT [] xref: GARD:9512 xref: ICD10CM:L94.6 xref: ICD9CM:136.0 xref: MESH:D000387 xref: NCI:C84544 is_a: DOID:0080011 ! bone resorption disease [Term] id: DOID:11330 name: erysipelas def: "An acute infection of the skin caused by species of STREPTOCOCCUS. This disease most frequently affects infants, young children, and the elderly. Characteristics include pink-to-red lesions that spread rapidly and are warm to the touch. The commonest site of involvement is the face." [MESH:D004886] xref: EFO:1001462 xref: GARD:6370 xref: ICD10CM:A46 xref: ICD9CM:035 xref: MESH:D004886 is_a: DOID:2723 ! dermatitis is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:11335 name: sarcoidosis alt_id: MIM:181000 alt_id: MIM:612387 alt_id: MIM:612388 def: "A hypersensitivity reaction type IV disease characterized by the growth of collections of inflammatory cells (granulomas) in multiple organs. (DO)" [http://en.wikipedia.org/wiki/Sarcoidosis "DO", http://ghr.nlm.nih.gov/glossary=sarcoidosis "DO", http://www.mayoclinic.org/diseases-conditions/sarcoidosis/basics/definition/con-20022569?_ga=1.188430891.2017809229.1415219956 "DO"] synonym: "Besnier Boeck disease" EXACT [] synonym: "Besnier Boeck Schaumann Syndrome" EXACT [] synonym: "Boeck's Disease" EXACT [] synonym: "Boeck's Sarcoid" EXACT [] synonym: "Boeck Disease" EXACT [] synonym: "Boeck Sarcoid" EXACT [] synonym: "Boecks Disease" EXACT [] synonym: "Boecks Sarcoid" EXACT [] synonym: "lymphogranulomatosis" EXACT [] synonym: "sarcoidoses" EXACT [] synonym: "sarcoidosis, susceptibility to, 1" RELATED [] synonym: "sarcoidosis, susceptibility to, 2" RELATED [] synonym: "sarcoidosis, susceptibility to, 3" RELATED [] synonym: "Schaumann's Syndrome" EXACT [] synonym: "Schaumann's syndromes" EXACT [] synonym: "Schaumann Disease" EXACT [] synonym: "Schaumann syndrome" EXACT [] synonym: "SS1" RELATED [] synonym: "SS2" RELATED [] synonym: "SS3" RELATED [] xref: EFO:0000690 xref: GARD:7607 xref: ICD10CM:D86 xref: ICD9CM:135 xref: MESH:D012507 xref: MONDO:0019338 xref: NCI:C34995 xref: ORDO:797 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:2916 ! hypersensitivity reaction type IV disease [Term] id: DOID:11336 name: rhinoscleroma def: "A primary bacterial infectious disease that involves the inflammation of mucosa lining the nasal cavity, pharynx, larynx, trachea and bronchi that is characterized by the formation of granulomas, dense induration of the tissues and nodular deformity caused by Klebsiella rhinoscleromatis. (DO)" [http://en.wikipedia.org/wiki/Rhinoscleroma "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rhinoscleroma "DO"] synonym: "nasal scleroma" EXACT [] synonym: "nasal scleromas" EXACT [] synonym: "rhinoscleromas" EXACT [] xref: EFO:0007470 xref: ICD9CM:040.1 xref: MESH:D012226 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:2825 ! nose disease is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9003828 ! Klebsiella Infections is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:11337 name: Lemierre's syndrome def: "A commensal bacterial infectious disease that is characterized by systemic sepsis, ulcerative or necrotic lesions and multisystem abscesses caused by Fusobacterium necrophorum. The disease often first presents as a severe tonsillitis or pharyngitis with high-grade fever and chills together with leukocytosis, cervical pain and neck swelling. (DO)" [http://en.wikipedia.org/wiki/Fusobacterium_necrophorum "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=necrobacillosis "DO"] synonym: "acute sore throat" RELATED [] synonym: "human necrobacillosis" EXACT [] synonym: "Lemierre's disease" EXACT [] synonym: "Lemierre disease" EXACT [] synonym: "Lemierres disease" EXACT [] synonym: "Lemierres syndrome" EXACT [] synonym: "Lemierre syndrome" EXACT [] synonym: "postanginal sepses" EXACT [] synonym: "postanginal sepsis" EXACT [] xref: GARD:6882 xref: ICD9CM:040.3 xref: MESH:D057831 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:3875 ! thrombophlebitis is_a: DOID:9001724 ! Fusobacterium Infections is_a: DOID:9004130 ! Pharyngeal Diseases [Term] id: DOID:11338 name: tetanus alt_id: RDO:0006683 def: "A primary bacterial infectious disease that results in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli. (DO)" [http://en.wikipedia.org/wiki/Tetanus "DO"] synonym: "clostridial tetanus" EXACT [] synonym: "infection due to Clostridium tetani" EXACT [] xref: EFO:0005593 xref: GARD:5144 xref: ICD10CM:A35 xref: ICD9CM:037 xref: MESH:D013742 xref: NCI:C85185 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9006732 ! Clostridium Infections [Term] id: DOID:11339 name: pneumocystosis def: "An opportunistic mycosis that is located in lungs, but can also occur in eyes, ears, skin, thyroid, pituitary, palate, parathyroid, esophagus, pleura, heart, liver, spleen, small intestine, adrenals, kidneys, bone marrow, and lymph nodes, has_material_basis_in Pneumocystis jirovecii that effects interstitial and alveolar tissues and has symptom nonproductive cough, has symptom shortness of breath, and has symptom fever. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000671.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pneumocystis%20carinii%20pneumonia "DO"] synonym: "Pneumocystis carinii Pneumonia" EXACT [] synonym: "Pneumocystis jirovecii pneumonia" EXACT [] synonym: "Pneumocystis pneumonia" EXACT [] synonym: "Pneumocystis Pneumonias" EXACT [] synonym: "Pneumocystoses" EXACT [] synonym: "Pneumocystosis pneumonia" EXACT [] synonym: "Pneumonia, Interstitial Plasma Cell" EXACT [] synonym: "Pneumonias, Pneumocystis carinii" EXACT [] synonym: "pulmonary pneumocystosis" EXACT [] xref: EFO:0007448 xref: GARD:4386 xref: ICD10CM:B59 xref: ICD9CM:136.3 xref: MESH:D011020 xref: NCI:C3334 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:552 ! pneumonia is_a: DOID:9005724 ! Fungal Lung Diseases is_a: DOID:9007019 ! Pneumocystis Infections [Term] id: DOID:1134 name: gingival recession def: "Exposure of the root surface when the edge of the gum (GINGIVA) moves apically away from the crown of the tooth. This is common with advancing age, vigorous tooth brushing, diseases, or tissue loss of the gingiva, the PERIODONTAL LIGAMENT and the supporting bone (ALVEOLAR PROCESS)." [MESH:D005889] synonym: "Atrophy of Gingiva" EXACT [] synonym: "gingiva atrophies" EXACT [] synonym: "Gingiva Atrophy" EXACT [] synonym: "gingival atrophies" EXACT [] synonym: "gingival atrophy" EXACT [] synonym: "gingival recessions" EXACT [] synonym: "localized gingival recession" NARROW [] synonym: "minimal gingival recession" NARROW [] synonym: "moderate gingival recession" NARROW [] synonym: "severe gingival recession" NARROW [] xref: ICD10CM:K06.0 xref: ICD10CM:K06.01 xref: ICD9CM:523.2 xref: ICD9CM:523.24 xref: MESH:D005889 xref: MONDO:0001268 xref: NCI:C82068 is_a: DOID:1483 ! gingival disease is_a: DOID:9005858 ! Periodontal Atrophy [Term] id: DOID:11342 name: arcus senilis alt_id: MIM:107800 def: "A corneal disease in which there is a deposition of phospholipid and cholesterol in the corneal stroma and anterior sclera." [MESH:D001112] synonym: "Arcus Corneae" EXACT [] synonym: "arcus of cornea" EXACT [] synonym: "Corneal Arcus" EXACT [] xref: EFO:1000818 xref: ICD10CM:H18.41 xref: MESH:D001112 is_a: DOID:1237 ! corneal degeneration is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:11343 name: scleral disease def: "An eye disease that affects the sclera, which is the white fibrous outer layer of the eyeball. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C79717 "DO"] synonym: "sclera disease" EXACT [] synonym: "sclera diseases" EXACT [] synonym: "scleral diseases" EXACT [] xref: ICD10CM:H15 xref: MESH:D015422 xref: NCI:C79717 is_a: DOID:5614 ! eye disease [Term] id: DOID:11353 name: bladder diverticulum alt_id: MIM:109820 synonym: "diverticulum of bladder" EXACT [] xref: ICD10CM:N32.3 xref: ICD9CM:596.3 xref: MESH:C562406 xref: NCI:C160155 is_a: DOID:365 ! bladder disease is_a: DOID:9001008 ! Diverticulum [Term] id: DOID:11354 name: stone in bladder diverticulum synonym: "calculus in diverticulum of bladder" EXACT [] xref: ICD9CM:594.0 is_a: DOID:11353 ! bladder diverticulum is_a: DOID:11355 ! bladder calculus created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11355 name: bladder calculus def: "Stones in the URINARY BLADDER; also known as vesical calculi, bladder stones, or cystoliths." [MESH:D001744] synonym: "bladder calculi" EXACT [] synonym: "Bladder Stone" EXACT [] synonym: "bladder stones" EXACT [] synonym: "Calculi of Urinary Bladder" EXACT [] synonym: "Cystolith" EXACT [] synonym: "Cystoliths" EXACT [] synonym: "Urinary Bladder Calculi" EXACT [] synonym: "Urinary Bladder Calculus" EXACT [] synonym: "Urinary Bladder Stone" EXACT [] synonym: "Urinary Bladder Stones" EXACT [] synonym: "vesical calculi" EXACT [] synonym: "vesical calculus" EXACT [] xref: EFO:1000839 xref: ICD10CM:N21.0 xref: MESH:D001744 is_a: DOID:365 ! bladder disease is_a: DOID:9590 ! lower urinary tract calculus [Term] id: DOID:11360 name: Phlebotomus fever def: "A viral infectious disease that results in infection, has_material_basis_in Sandfly fever Naples virus, or has_material_basis_in Sandfly fever sicilian virus, which are transmitted by Phlebotomus papatasi sandfly. The infection has symptom fever, has symptom severe frontal headaches, has symptom muscle ache, has symptom joint aches, has symptom flushing of the face, and has symptom tachycardia. (DO)" [http://en.wikipedia.org/wiki/Pappataci_fever "DO"] synonym: "Pappataci Fever" EXACT [] synonym: "Pappataci Fevers" EXACT [] synonym: "Phlebotomus Fevers" EXACT [] synonym: "sandfly-borne arboviral fever" EXACT [] synonym: "sandfly-borne bunyavirus fever" EXACT [] synonym: "sandfly-borne phleboviral disease" EXACT [] synonym: "Sandfly Fever" EXACT [] synonym: "Sandfly Fevers" EXACT [] xref: EFO:0007437 xref: ICD10CM:A93.1 xref: ICD9CM:066.0 xref: MESH:D010217 is_a: DOID:9004137 ! Bunyaviridae Infections is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:11364 name: lens subluxation def: "Incomplete rupture of the zonule with the displaced lens remaining behind the pupil. In dislocation, or complete rupture, the lens is displaced forward into the anterior chamber or backward into the vitreous body. When congenital, this condition is known as ECTOPIA LENTIS." [MESH:D007906] synonym: "Lens Dislocation" EXACT [] synonym: "Lens Dislocation and Subluxation" EXACT [] synonym: "Lens Dislocations" EXACT [] synonym: "Lens Subluxations" EXACT [] synonym: "Subluxation of lens" EXACT [ICD9CM_2006:379.32] xref: ICD10CM:H27.11 xref: ICD9CM:379.32 xref: MESH:D007906 xref: NCI:C34772 xref: RDO:0005444 is_a: DOID:110 ! lens disease [Term] id: DOID:11367 name: congenital aphakia synonym: "congenital absence of lens" EXACT [] synonym: "congenital primary aphakia" EXACT [] synonym: "CPA" EXACT [] synonym: "CPAK" EXACT [] xref: ICD10CM:Q12.3 xref: ICD9CM:743.35 xref: MESH:C537786 xref: NCI:C35172 is_a: DOID:0080015 ! physical disorder is_a: DOID:0080607 ! anterior segment dysgenesis 2 is_a: DOID:9008804 ! Aphakia [Term] id: DOID:11371 name: functional diarrhea synonym: "functional diarrhoea" EXACT [] xref: ICD10CM:K59.1 xref: ICD9CM:564.5 is_a: DOID:13250 ! diarrhea is_a: DOID:5353 ! colonic disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11372 name: megacolon def: "A colonic disease that is characterized by an abnormal dilation of the colon. (DO)" [http://en.wikipedia.org/wiki/Megacolon "DO"] synonym: "dilatation of colon" EXACT [] synonym: "megacolons" EXACT [] xref: ICD10CM:K59.39 xref: MESH:D008531 xref: NCI:C34810 is_a: DOID:5353 ! colonic disease [Term] id: DOID:11374 name: anal spasm xref: ICD10CM:K59.4 xref: ICD9CM:564.6 is_a: DOID:3128 ! anus disease [Term] id: DOID:11379 name: gnathomiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection due to migrating immature worms of Gnathostoma spinigerum or Gnathostoma hispidum, which occurs by eating undercooked fish or poultry containing third-stage larvae, or by drinking water containing infective second-stage larvae in Cyclops. Migration in the subcutaneous tissues causes intermittent, migratory, painful, pruritic swellings (cutaneous larva migrans). Migration to other tissues (visceral larva migrans), result in cough, hematuria, and ocular involvement, with the most serious manifestations eosinophilic meningitis with myeloencephalitis. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Gnathostomiasis.htm "DO"] synonym: "gnathostoma infection" EXACT [] synonym: "gnathostoma infections" EXACT [] synonym: "gnathostomiases" EXACT [] synonym: "gnathostomiasis" EXACT [] synonym: "infectious disease by gnathostoma" EXACT [] xref: EFO:0007289 xref: GARD:9286 xref: ICD10CM:B83.1 xref: ICD9CM:128.1 xref: MESH:D058429 xref: NCI:C128395 is_a: DOID:9003105 ! Spirurida Infections [Term] id: DOID:1138 name: spinal meningioma synonym: "spinal cord meningioma" EXACT [] xref: GARD:10264 xref: NCI:C6935 is_a: DOID:1140 ! spinal canal and spinal cord meningioma is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:11382 name: corneal neovascularization def: "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION." [MESH:D016510] synonym: "Corneal Angiogenesis" EXACT [] synonym: "Corneal Neovascularizations" EXACT [] xref: EFO:1000880 xref: ICD10CM:H16.4 xref: ICD9CM:370.6 xref: MESH:D016510 xref: RDO:0006962 is_a: DOID:10124 ! corneal disease is_a: DOID:4677 ! keratitis is_a: DOID:9002493 ! Ocular Neovascularization [Term] id: DOID:11383 name: cryptorchidism alt_id: MIM:219050 def: "A developmental defect in which a TESTIS or both TESTES failed to descend from high in the ABDOMEN to the bottom of the SCROTUM. Testicular descent is essential to normal SPERMATOGENESIS which requires temperature lower than the BODY TEMPERATURE. Cryptorchidism can be subclassified by the location of the maldescended testis." [MESH:D003456] synonym: "Abdominal Cryptorchidism" EXACT [] synonym: "Bilateral Cryptorchidism" EXACT [] synonym: "Cryptorchidism, Unilateral Or Bilateral" EXACT [] synonym: "Cryptorchism" EXACT [] synonym: "Inguinal Cryptorchidism" EXACT [] synonym: "Undescended Testes" EXACT [] synonym: "undescended testicle" EXACT [] synonym: "undescended testicles" EXACT [] synonym: "Undescended Testis" EXACT [] synonym: "Unilateral Cryptorchidism" EXACT [] xref: EFO:0004562 xref: ICD10CM:Q53.9 xref: ICD9CM:752.51 xref: MESH:D003456 xref: NCI:C12326 is_a: DOID:1923 ! disorder of sexual development is_a: DOID:2519 ! testicular disease [Term] id: DOID:11385 name: expressive language disorder def: "A language disorder that involves difficulties with verbal and written expression characterized by an ability to use expressive spoken language that is markedly below the appropriate level for the mental age, but with a language comprehension that is within normal limits. (DO)" [http://en.wikipedia.org/wiki/Expressive_language_disorder "DO"] synonym: "Developmental expressive language disorder" EXACT [SNOMEDCT_2005_07_31:268734000] xref: ICD10CM:F80.1 xref: ICD9CM:315.31 xref: NCI:C92562 xref: RDO:9003879 is_a: DOID:93 ! language disorder created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11387 name: epidural abscess def: "A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001416.htm "DO"] synonym: "Cranial Epidural Abscess" EXACT [] synonym: "Cranial Extradural Abscess" EXACT [] synonym: "EFO:0007260" EXACT [] synonym: "Extradural Abscess" EXACT [] synonym: "Intracranial Epidural Abscess" EXACT [] synonym: "Intracranial Extradural Abscess" EXACT [] synonym: "intracranial extradural abscesses" EXACT [] synonym: "Spinal Epidural Abscess" EXACT [] synonym: "spinal extradural abscess" EXACT [] xref: EFO:0007260 xref: MESH:D020802 is_a: DOID:319 ! spinal cord disease is_a: DOID:331 ! central nervous system disease is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:9000325 ! Abscess is_a: DOID:9006960 ! Perimeningeal Infections [Term] id: DOID:11389 name: subdural empyema def: "A central nervous system disease that is characterized by the collection or gathering of pus within the subdural space. (DO)" [https://en.wikipedia.org/wiki/Subdural_empyema "DO"] synonym: "subdural abscess" EXACT [] synonym: "subdural abscess, intracranial" EXACT [] synonym: "subdural empyemas" EXACT [] xref: EFO:1001196 xref: MESH:D013354 is_a: DOID:9004425 ! Empyema is_a: DOID:9006960 ! Perimeningeal Infections [Term] id: DOID:11390 name: cerebral arteritis xref: ICD9CM:437.4 is_a: DOID:525 ! central nervous system vasculitis created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:11394 name: adult respiratory distress syndrome def: "A respiratory failure that results from diffuse injury to the endothelium of the lung (as in sepsis, chest trauma, massive blood transfusion, aspiration of the gastric contents, or pneumonia) and is characterized by pulmonary edema with an abnormally high amount of protein in the edematous fluid and by difficult rapid breathing and hypoxemia. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=adult+respiratory+distress+syndrome "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5392788/ "DO"] synonym: "Acute Respiratory Distress Syndrome" EXACT [] synonym: "adult RDS" EXACT [] synonym: "ARDS" EXACT [] synonym: "ARDSs, Human" EXACT [] synonym: "Human ARDS" EXACT [] synonym: "non-cardiogenic pulmonary edema" EXACT [] synonym: "Shock Lung" EXACT [] xref: EFO:1000637 xref: GARD:5698 xref: ICD10CM:J80 xref: MESH:D012128 xref: NCI:C3353 is_a: DOID:11162 ! respiratory failure is_a: DOID:225 ! syndrome is_a: DOID:850 ! lung disease is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:11396 name: pulmonary edema def: "A respiratory failure that is characterized by the accumulation of fluid in the lung tissues causing disturbance of the gas exchange that may lead to respiratory failure. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11357010/ "DO"] synonym: "Pulmonary Edemas" EXACT [] synonym: "Wet Lung" EXACT [] synonym: "Wet Lungs" EXACT [] xref: EFO:1001134 xref: ICD10CM:J81 xref: ICD10CM:J81.1 xref: MESH:D011654 xref: MONDO:0006932 xref: NCI:C26868 is_a: DOID:11162 ! respiratory failure [Term] id: DOID:114 name: heart disease def: "A cardiovascular system disease that involves the heart. (DO)" [http://en.wikipedia.org/wiki/Heart_disease "DO"] synonym: "Abnormal cardiac atrium morphology" NARROW [] synonym: "cardiac disease" EXACT [] synonym: "cardiac diseases" EXACT [] synonym: "heart diseases" EXACT [] xref: EFO:0003777 xref: HP:0005120 xref: ICD10CM:I51.9 xref: ICD9CM:429.9 xref: MESH:D006331 xref: MONDO:0005267 xref: NCI:C3079 is_a: DOID:0060118 ! thoracic disease is_a: DOID:1287 ! cardiovascular system disease [Term] id: DOID:1140 name: spinal canal and spinal cord meningioma xref: NCI:C5134 is_a: DOID:3565 ! meningioma is_a: DOID:5612 ! spinal cancer [Term] id: DOID:11400 name: pyelonephritis def: "Inflammation of the KIDNEY involving the renal parenchyma (the NEPHRONS); KIDNEY PELVIS; and KIDNEY CALICES. It is characterized by ABDOMINAL PAIN; FEVER; NAUSEA; VOMITING; and occasionally DIARRHEA." [MESH:D011704] synonym: "Necrotizing Pyelonephritis" EXACT [] synonym: "Pyelonephritides" EXACT [] synonym: "Pyelonephritis, Acute Necrotizing" EXACT [] xref: EFO:1001141 xref: ICD10CM:N16 xref: ICD9CM:590.80 xref: MESH:D011704 xref: NCI:C34965 is_a: DOID:1063 ! interstitial nephritis is_a: DOID:2744 ! pyelitis [Term] id: DOID:11401 name: xanthogranulomatous pyelonephritis def: "A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES." [MESH:D011705] synonym: "Xanthogranulomatous Pyelonephritides" EXACT [] xref: EFO:1001244 xref: MESH:D011705 xref: NCI:C123038 is_a: DOID:1076 ! chronic pyelonephritis is_a: DOID:11400 ! pyelonephritis [Term] id: DOID:11405 name: diphtheria def: "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys. (DO)" [http://en.wikipedia.org/wiki/Diphtheria "DO"] synonym: "corynebacterium infection" EXACT [] synonym: "diphtherias" EXACT [] xref: EFO:0005549 xref: GARD:1875 xref: MESH:D004165 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9003413 ! Corynebacterium Infections [Term] id: DOID:11406 name: choroiditis def: "Inflammation of the choroid." [MESH:D002833] synonym: "choroiditides" EXACT [] xref: GARD:6062 xref: ICD10CM:H30.9 xref: MESH:D002833 is_a: DOID:12574 ! posterior uveitis is_a: DOID:1417 ! choroid disease [Term] id: DOID:1142 name: alternating exotropia xref: ICD10CM:H50.15 xref: ICD9CM:378.15 is_a: DOID:1143 ! exotropia created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11424 name: fallopian tube endometriosis def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the fallopian tube. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] synonym: "endometriosis of fallopian tube" EXACT [] xref: ICD10CM:N80.2 xref: ICD9CM:617.2 xref: NCI:C26763 is_a: DOID:1962 ! fallopian tube disease is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11427 name: endosalpingiosis def: "A female reproductive system disease characterized by the growth of fallopian tube-like epithelium outside the fallopian tube. (DO)" [https://en.wikipedia.org/wiki/Endosalpingiosis "DO"] xref: NCI:C179646 xref: NCI:C40121 is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11428 name: endometriosis of intestine def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the intestine. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2653346/ "DO"] xref: ICD10CM:N80.5 xref: ICD9CM:617.5 is_a: DOID:289 ! endometriosis is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11429 name: endometriosis of pelvic peritoneum def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the pelvic peritoneum. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] xref: ICD10CM:N80.3 xref: ICD9CM:617.3 is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:1143 name: exotropia def: "A form of ocular misalignment where the visual axes diverge inappropriately. For example, medial rectus muscle weakness may produce this condition as the affected eye will deviate laterally upon attempted forward gaze. An exotropia occurs due to the relatively unopposed force exerted on the eye by the lateral rectus muscle, which pulls the eye in an outward direction." [MESH:D005099] synonym: "CONCOMITANT EXOTROPIA" NARROW [] synonym: "divergent concomitant strabismus" EXACT [] synonym: "divergent strabismus" EXACT [] synonym: "exodeviation" EXACT [] synonym: "exodeviations" EXACT [] synonym: "exophoria" EXACT [] synonym: "primary exotropia" EXACT [] synonym: "secondary exotropia" EXACT [] xref: ICD10CM:H50.1 xref: ICD9CM:378.1 xref: MESH:D005099 xref: NCI:C34601 is_a: DOID:540 ! strabismus [Term] id: DOID:11430 name: endometriosis in scar of skin def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the scar of the skin. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] xref: ICD10CM:N80.6 xref: ICD9CM:617.6 is_a: DOID:289 ! endometriosis is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11431 name: endometriosis of rectovaginal septum and vagina def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the rectovaginal septum and vagina. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] xref: ICD10CM:N80.4 xref: ICD9CM:617.4 is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11432 name: endometriosis of ovary def: "A female reproductive system disease characterized by the growth of endometrial tissue that is located_in the ovary. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] synonym: "ovarian endometriosis" EXACT [] xref: EFO:1000418 xref: ICD10CM:N80.1 xref: ICD9CM:617.1 xref: NCI:C27628 is_a: DOID:1100 ! ovarian disease is_a: DOID:289 ! endometriosis created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:11446 name: sciatic neuropathy def: "Disease or damage involving the SCIATIC NERVE, which divides into the PERONEAL NERVE and TIBIAL NERVE (see also PERONEAL NEUROPATHIES and TIBIAL NEUROPATHY). Clinical manifestations may include SCIATICA or pain localized to the hip, PARESIS or PARALYSIS of posterior thigh muscles and muscles innervated by the peroneal and tibial nerves, and sensory loss involving the lateral and posterior thigh, posterior and lateral leg, and sole of the foot. The sciatic nerve may be affected by trauma; ISCHEMIA; COLLAGEN DISEASES; and other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1363)" [MESH:D020426] synonym: "Sciatic Inflammatory Neuropathy" RELATED [] synonym: "Sciatic Nerve Disease" EXACT [] synonym: "sciatic nerve diseases" EXACT [] synonym: "Sciatic Nerve Injuries" EXACT [] synonym: "Sciatic Nerve Injury" EXACT [] synonym: "Sciatic Nerve Neuralgia-Neuritides" EXACT [] synonym: "Sciatic Nerve Neuralgia-Neuritis" EXACT [] synonym: "Sciatic Nerve Palsies" EXACT [] synonym: "Sciatic Nerve Palsy" EXACT [] synonym: "Sciatic Neuritides" EXACT [] synonym: "Sciatic Neuritis" EXACT [] synonym: "sciatic neuropathies" EXACT [] xref: EFO:1001166 xref: MESH:D020426 is_a: DOID:12528 ! lesion of sciatic nerve [Term] id: DOID:11450 name: allergic cutaneous vasculitis def: "A hypersensitivity vasculitis that results_in inflammation of small blood vessels, characterized clinically by palpable purpura, which is a slightly elevated purpuric rash over one or more areas of the skin. (DO)" [https://medlineplus.gov/ency/article/000874.htm "DO"] synonym: "allergic cutaneous angiitides" EXACT [] synonym: "Allergic Cutaneous Angiitis" EXACT [] synonym: "allergic cutaneous vasculitides" EXACT [] synonym: "autoimmune hypersensitivity angiitis" EXACT [] synonym: "Cutaneous Leukocytoclastic Angiitides" EXACT [] synonym: "Cutaneous Leukocytoclastic Angiitis" EXACT [] synonym: "Cutaneous Leukocytoclastic Vasculitides" EXACT [] synonym: "cutaneous leukocytoclastic vasculitis" EXACT [] synonym: "hypersensitivity angiitides" EXACT [] synonym: "hypersensitivity angiitis" EXACT [] xref: MESH:D018366 is_a: DOID:37 ! skin disease is_a: DOID:9809 ! hypersensitivity vasculitis [Term] id: DOID:11452 name: perinatal jaundice due to hepatocellular damage xref: EFO:1000750 xref: ICD9CM:774.4 is_a: DOID:2383 ! neonatal jaundice created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11457 name: brain compression def: "A brain disease that is characterized by pressure on the intracranial tissues by an effusion of blood or cerebrospinal fluid, an abscess, a neoplasm, a depressed fracture of the skull, or edema of the brain. (DO)" [https://en.wikipedia.org/wiki/Brain_herniation "DO"] synonym: "cerebellar compression" NARROW [] synonym: "cerebral compression" NARROW [] xref: ICD10CM:G93.5 xref: ICD9CM:348.4 is_a: DOID:9000998 ! Brain Injuries is_a: DOID:9005214 ! Anatomical Pathological Conditions is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-01-30T00:00:00Z [Term] id: DOID:11459 name: pseudotumor cerebri alt_id: MIM:243200 def: "A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS)." [MESH:D011559] synonym: "benign intracranial hypertension" EXACT [] synonym: "idiopathic intracranial hypertension" EXACT [] xref: EFO:1001132 xref: GARD:4561 xref: ICD10CM:G93.2 xref: ICD9CM:348.2 xref: MESH:D011559 xref: NCI:C85035 is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9428 ! intracranial hypertension [Term] id: DOID:11465 name: autonomic nervous system disease def: "A peripheral nervous system disease that is located_in the autonomic nervous system. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27339825/ "DO", MESH:D001342] synonym: "ANS (autonomic nervous system) diseases" EXACT [] synonym: "ANS Disease" EXACT [] synonym: "ANS diseases" EXACT [] synonym: "Autonomic Central Nervous System Diseases" EXACT [] synonym: "Autonomic Disease" EXACT [] synonym: "Autonomic Diseases" EXACT [] synonym: "autonomic nervous system diseases" EXACT [] synonym: "autonomic nervous system disorder" EXACT [] synonym: "Autonomic Nervous System Disorders" EXACT [] synonym: "AUTONOMIC NERVOUS SYSTEM DYSFUNCTION" EXACT [] synonym: "Autonomic Peripheral Nervous System Diseases" EXACT [] synonym: "Disorders of the Autonomic Nervous System" EXACT [] synonym: "parasympathetic nervous system diseases" EXACT [] synonym: "segmental autonomic dysfunction" EXACT [] synonym: "segmental autonomic dysfunctions" EXACT [] synonym: "sympathetic nervous system diseases" EXACT [] xref: EFO:0009532 xref: ICD9CM:337.1 xref: MESH:D001342 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:863 ! nervous system disease [Term] id: DOID:11472 name: subglottis cancer synonym: "Ca larynx - subglottis" EXACT [] synonym: "malignant subglottic tumor" EXACT [] synonym: "malignant tumor of subglottis" EXACT [SNOMEDCT_2005_07_31:363430007] xref: ICD10CM:C32.2 xref: ICD9CM:161.2 xref: NCI:C3546 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:11476 name: osteoporosis alt_id: MIM:166710 def: "A bone resorption disease characterized by decreased density of normally mineralized bone which results_in the thinning of bone tissue and decreased mechanical strength. (DO)" [http://en.wikipedia.org/wiki/Osteoporosis "DO", http://www.mayoclinic.com/health/osteoporosis/DS00128 "DO", http://www.niams.nih.gov/Health_Info/Bone/default.asp "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000360.htm "DO"] synonym: "age-related bone loss" EXACT [] synonym: "age-related bone losses" EXACT [] synonym: "age-related osteoporoses" EXACT [] synonym: "age related osteoporosis" EXACT [] synonym: "FRACTURE, HIP, SUSCEPTIBILITY TO" RELATED [] synonym: "involutional osteoporosis" EXACT [] synonym: "LRP5-RELATED PRIMARY OSTEOPOROSIS" NARROW [] synonym: "Osteoporoses" EXACT [] synonym: "OSTEOPOROSIS, EARLY-ONSET, SUSCEPTIBILITY TO" RELATED [] synonym: "OSTEOPOROSIS, SUSCEPTIBILITY TO" RELATED [] synonym: "post-traumatic osteoporoses" EXACT [] synonym: "post-traumatic osteoporosis" EXACT [] synonym: "senile osteoporoses" EXACT [] synonym: "senile osteoporosis" EXACT [] synonym: "WNT1-RELATED CONDITION" BROAD [] synonym: "X-LINKED OSTEOPOROSIS WITH FRACTURES" NARROW [] xref: EFO:0003882 xref: ICD10CM:M81.0 xref: ICD9CM:733.0 xref: MESH:D010024 xref: NCI:C3298 is_a: DOID:0080011 ! bone resorption disease is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:1148 name: polydactyly def: "A physical disorder that is characterized by the presence of more than five fingers per hand or five toes per foot. (DO)" [https://en.wikipedia.org/wiki/Polydactyly "DO"] synonym: "hyperdactylies" EXACT [] synonym: "hyperdactyly" EXACT [] synonym: "polydactylia" EXACT [] synonym: "polydactylias" EXACT [] synonym: "polydactylies" EXACT [] synonym: "polydactylism" EXACT [] synonym: "polydactylisms" EXACT [] synonym: "supernumerary digit" RELATED [] xref: GARD:4410 xref: ICD10CM:Q69 xref: ICD9CM:755.0 xref: MESH:D017689 xref: MIM:603596 xref: MONDO:0021003 xref: NCI:C87110 is_a: DOID:0080015 ! physical disorder is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:11481 name: constrictive pericarditis def: "Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS." [MESH:D010494] synonym: "Constrictive Pericarditides" EXACT [] synonym: "Heart Pick's Disease" EXACT [] synonym: "Pick's Disease of Heart" EXACT [] synonym: "Pick Disease, Heart" EXACT [] synonym: "Pick Disease of Heart" EXACT [] synonym: "Picks Disease, Heart" EXACT [] xref: EFO:1000878 xref: ICD9CM:423.2 xref: MESH:D010494 xref: NCI:C78246 is_a: DOID:1787 ! pericarditis [Term] id: DOID:11482 name: hemopericardium def: "A pericardial effusion that results from blood in the pericardial sac. (DO)" [http://en.wikipedia.org/wiki/Hemopericardium "DO"] synonym: "haemopericardium" EXACT [] xref: EFO:0007298 xref: ICD9CM:423.0 xref: NCI:C111644 is_a: DOID:118 ! pericardial effusion created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11486 name: Horner's syndrome alt_id: MIM:143000 def: "An autonomic neuropathy that is characterized by the classic triad of unilateral ptosis, unilateral miosis with anisocoria, and ipsilateral facial anhidrosis, resulting from unilateral paralysis of the cervical sympathetics. (DO)" [https://pubmed.ncbi.nlm.nih.gov/14610154/ "DO"] synonym: "Acquired Horner Syndrome" EXACT [] synonym: "Bernard's Syndrome" EXACT [] synonym: "Bernard Horner syndrome" EXACT [] synonym: "Bernards Syndrome" EXACT [] synonym: "Bernard Syndrome" EXACT [] synonym: "Bernard Syndromes" EXACT [] synonym: "Central Horner Syndrome" EXACT [] synonym: "cervical sympathetic paralysis" EXACT [] synonym: "Claude Bernard Horner Syndrome" EXACT [] synonym: "Horners Syndrome" EXACT [] synonym: "Horners Syndrome, Pupil" EXACT [] synonym: "Horner syndrome" EXACT [] synonym: "Horner Syndrome, Pupil" EXACT [] synonym: "Miosis, Innervational Defect" EXACT [] synonym: "Oculosympathetic Syndrome" EXACT [] synonym: "Oculosympathetic Syndromes" EXACT [] synonym: "Ptosis Sympathetic" EXACT [] synonym: "Pupil Horner's Syndrome" EXACT [] synonym: "Sympathetic Ocular Ophthalmoplegia" EXACT [] synonym: "Sympathetic Ocular Ophthalmoplegias" EXACT [] xref: GARD:6670 xref: ICD10CM:G90.2 xref: MESH:D006732 xref: NCI:C28155 is_a: DOID:11504 ! autonomic neuropathy is_a: DOID:225 ! syndrome is_a: DOID:9003165 ! Miosis [Term] id: DOID:11488 name: idiopathic peripheral autonomic neuropathy xref: ICD10CM:G90.0 xref: ICD9CM:337.0 is_a: DOID:11465 ! autonomic nervous system disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:11491 name: acquired night blindness def: "A nutritional deficiency disease that is characterized by vitamin A deficiency causing poor adaptation of the eyes to low levels of light, and has_material_basis_in lack of vitamin A such that rhodopsin, a light sensitive retinal pigment, cannot be regenerated. (DO)" [https://en.wikipedia.org/wiki/Nyctalopia "DO", https://en.wikipedia.org/wiki/Vitamin_A_deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/25804276 "DO"] xref: ICD10CM:H53.62 xref: ICD9CM:368.62 is_a: DOID:5113 ! nutritional deficiency disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:115 name: cardiac tamponade def: "A pericardial effusion in which fluid accumulates in the pericardium (the sac in which the heart is enclosed) and the pericardial spaces fills up faster than the pericardial sac can stretch. (DO)" [http://en.wikipedia.org/wiki/Cardiac_tamponade "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000194.htm "DO"] synonym: "cardiac tamponades" EXACT [] synonym: "Pericardial Tamponade" EXACT [] synonym: "pericardial tamponades" EXACT [] synonym: "Rose's tamponade" EXACT [] xref: EFO:1001285 xref: ICD10CM:I31.4 xref: ICD9CM:423.3 xref: MESH:D002305 xref: NCI:C50481 is_a: DOID:118 ! pericardial effusion [Term] id: DOID:11502 name: mitral valve insufficiency def: "Backflow of blood from the LEFT VENTRICLE into the LEFT ATRIUM due to imperfect closure of the MITRAL VALVE. This can lead to mitral valve regurgitation." [MESH:D008944] synonym: "congenital insufficiency of mitral valve" EXACT [] synonym: "congenital mitral insufficiency" EXACT [] synonym: "congenital mitral malformation" EXACT [] synonym: "congenital mitral regurgitation" EXACT [] synonym: "mitral incompetence" EXACT [] synonym: "mitral insufficiency" EXACT [] synonym: "mitral regurgitation" EXACT [] synonym: "mitral valve incompetence" EXACT [] synonym: "mitral valve regurgitation" EXACT [] xref: EFO:0009539 xref: ICD10CM:Q23.3 xref: ICD9CM:396.3 xref: ICD9CM:746.6 xref: MESH:D008944 xref: NCI:C50852 xref: NCI:C50888 is_a: DOID:61 ! mitral valve disease [Term] id: DOID:11503 name: diabetic autonomic neuropathy synonym: "diabetic autonomic neuropathies" EXACT [] xref: EFO:1000783 xref: NCI:C27068 is_a: DOID:11504 ! autonomic neuropathy is_a: DOID:9743 ! diabetic neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11504 name: autonomic neuropathy xref: NCI:C27033 is_a: DOID:11465 ! autonomic nervous system disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11506 name: suppurative otitis media def: "A otitis media which involves inflammation of the middle ear with infected effusion containing pus. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA129&lpg#v=onepage&q=&f=false "DO"] synonym: "otitis media with effusion - purulent" EXACT [] synonym: "Purulent Otitis Media" EXACT [] xref: EFO:0007503 xref: ICD10CM:H66.4 xref: ICD9CM:382.4 xref: MESH:D010035 is_a: DOID:10754 ! otitis media is_a: DOID:9005889 ! Suppuration [Term] id: DOID:11507 name: rumination disorder alt_id: MESH:D019959 def: "An eating disorder that is characterized by effortless regurgitation of most meals following consumption. (DO)" [http://en.wikipedia.org/wiki/Rumination_syndrome "DO"] synonym: "childhood eating and feeding disorders" EXACT [] synonym: "Feeding and Eating Disorders of Childhood" EXACT [] synonym: "psychogenic rumination" EXACT [] synonym: "rumination disorders" EXACT [] xref: GARD:7594 xref: ICD9CM:307.53 xref: MESH:D000079562 xref: NCI:C92567 is_a: DOID:8670 ! eating disorder [Term] id: DOID:11512 name: Budd-Chiari syndrome alt_id: MIM:600880 def: "A hepatic vascular disease that is characterized by a spectrum of disease states, including anatomic abnormalities and hypercoagulable disorders, resulting in hepatic venous outflow occlusion. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16971261/ "DO"] synonym: "BDCHS" EXACT [] synonym: "Chiari's syndrome" EXACT [] synonym: "Chiaris syndrome" EXACT [] synonym: "Chiari Syndrome" EXACT [] synonym: "Hepatic Vein Thromboses" EXACT [] synonym: "Hepatic Vein Thrombosis" EXACT [] synonym: "hepatic venous outflow obstruction" EXACT [] synonym: "membranous obstruction of inferior vena cava" NARROW [] synonym: "MOVC" NARROW [] xref: EFO:1000966 xref: ICD10CM:I82.0 xref: MESH:D006502 is_a: DOID:225 ! syndrome is_a: DOID:272 ! hepatic vascular disease is_a: DOID:409 ! liver disease is_a: DOID:9003871 ! Venous Thrombosis [Term] id: DOID:11514 name: fissured tongue alt_id: MESH:C564239 def: "The occurrence of of breaks or slits in the tissue of the dorsal surface of the TONGUE." [MESH:D014063] synonym: "congenital fissure of tongue" EXACT [] synonym: "congenital plicated tongue" EXACT [] synonym: "fissured tongues" EXACT [] synonym: "fissure of tongue" EXACT [] synonym: "Furrowed Tongue" EXACT [] synonym: "Furrowed Tongues" EXACT [] synonym: "geographic tongue and fissured tongue" EXACT [] synonym: "Lingua Plicata" EXACT [] synonym: "Lingua Plicatas" EXACT [] synonym: "plicated tongue" EXACT [] synonym: "scrotal tongue" EXACT [] synonym: "scrotal tongues" EXACT [] xref: ICD10CM:K14.5 xref: ICD9CM:529.5 xref: MESH:D014063 is_a: DOID:10944 ! tongue disease [Term] id: DOID:11516 name: hypertensive heart disease def: "A heart disease that is caused by high blood pressure. (DO)" [http://en.wikipedia.org/wiki/Heart_disease "DO", http://en.wikipedia.org/wiki/Hypertensive_heart_disease "DO"] xref: ICD10CM:I11 xref: ICD9CM:402 xref: MONDO:0001302 xref: NCI:C157879 is_a: DOID:114 ! heart disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:11518 name: abnormal pupillary function synonym: "abnormal pupillary functions" EXACT [] xref: ICD10CM:H57.09 xref: ICD9CM:379.49 is_a: DOID:238 ! pupil disease [Term] id: DOID:11520 name: benign hypertensive renal disease synonym: "hypertensive renal disease, benign, without mention of renal failure" EXACT [ICD9CM_2006:403.10] xref: ICD9CM:403.1 xref: RDO:9003035 is_a: DOID:1073 ! renal hypertension created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11527 name: laryngostenosis def: "Developmental or acquired stricture or narrowing of the LARYNX. Symptoms of respiratory difficulty depend on the degree of laryngeal narrowing." [MESH:D007829] synonym: "acquired laryngeal stenoses" EXACT [] synonym: "Acquired Laryngeal Stenosis" EXACT [] synonym: "Acquired Subglottic Stenoses" EXACT [] synonym: "Acquired Subglottic Stenosis" EXACT [] synonym: "Congenital Subglottic Stenoses" EXACT [] synonym: "Congenital Subglottic Stenosis" EXACT [] synonym: "Laryngeal Stenoses" EXACT [] synonym: "Laryngeal Stenosis" EXACT [] synonym: "laryngostenoses" EXACT [] synonym: "stenosis of larynx" EXACT [] xref: ICD10CM:J38.6 xref: ICD9CM:478.74 xref: MESH:D007829 xref: NCI:C79608 is_a: DOID:786 ! laryngeal disease is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:11541 name: recurrent corneal erosion synonym: "recurrent erosion of cornea" EXACT [] synonym: "recurrent erosion syndrome" EXACT [] xref: ICD10CM:H18.83 xref: ICD9CM:371.42 is_a: DOID:1237 ! corneal degeneration created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11543 name: corneal abscess xref: ICD10CM:H16.31 xref: ICD9CM:370.55 xref: NCI:C26969 is_a: DOID:9858 ! deep keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11547 name: corneal deposit synonym: "cornea deposits" EXACT [] xref: ICD10CM:H18.00 xref: ICD9CM:371.10 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11549 name: Adie syndrome alt_id: MESH:C531601 alt_id: MIM:103100 def: "A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. (DO)" [http://en.wikipedia.org/wiki/Adie_syndrome "DO", http://www.ninds.nih.gov/disorders/holmes_adie/holmes_adie.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Adie's%20syndrome "DO"] synonym: "Adie's pupil or syndrome" EXACT [] synonym: "Adie's pupil syndrome" EXACT [] synonym: "Adie's syndrome" EXACT [] synonym: "Holmes Adie syndrome" EXACT [] synonym: "poorly reacting pupil" EXACT [] synonym: "poorly reacting pupils" EXACT [] synonym: "tonic, sluggishly reacting pupil and hypoactive or absent tendon reflexes" EXACT [] xref: EFO:0004126 xref: GARD:5749 xref: MESH:D000270 xref: NCI:C34357 is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:225 ! syndrome is_a: DOID:562 ! third cranial nerve disease is_a: DOID:9008776 ! Tonic Pupil [Term] id: DOID:11550 name: oculomotor nerve paralysis synonym: "III nerve palsy" EXACT [] synonym: "IIIrd nerve Paralysis" EXACT [] synonym: "Third cranial nerve paralysis" EXACT [] xref: ICD10CM:H49.0 xref: NCI:C27597 is_a: DOID:562 ! third cranial nerve disease [Term] id: DOID:11552 name: Bowman's membrane folds or rupture synonym: "Bowman membrane folds or rupture" EXACT [] xref: ICD10CM:H18.31 xref: ICD9CM:371.31 xref: RDO:9003417 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11554 name: Chandler syndrome def: "A corneal dystrophy that is characterized by corneal edema, iris atrophy, and secondary angle-closure glaucoma caused by an inflammatory or infectious insult that causes the endothelium to fail to pump aqueous humor from the cornea, leading to fluid accumulation, microcystic edema, and angle-closure glaucoma. (DO)" [https://rarediseases.info.nih.gov/diseases/6033/chandlers-syndrome "DO"] synonym: "Chandler's syndrome" EXACT [] synonym: "Chandlers syndrome" EXACT [] synonym: "endothelial corneal dystrophy" EXACT [] synonym: "posterior membrane corneal dystrophy" EXACT [] is_a: DOID:9003072 ! Iridocorneal Endothelial Syndrome created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:11555 name: Fuchs' endothelial dystrophy def: "A corneal dystrophy characterized by accumulation of focal outgrowths (guttae) and thickening of Descemet's membrane, leading to corneal edema and loss of vision. (DO)" [http://en.wikipedia.org/wiki/Fuchs%27_dystrophy "DO", http://ghr.nlm.nih.gov/condition/fuchs-endothelial-dystrophy "DO", http://rarediseases.info.nih.gov/gard/10018/corneal-dystrophy-fuchs-endothelial-1/resources/1 "DO", http://www.mayoclinic.org/diseases-conditions/fuchs-dystrophy/basics/definition/con-20023893?_ga=1.163328703.2017809229.1415219956 "DO"] synonym: "FCED" EXACT [] synonym: "Fuch's endothelial dystrophy" EXACT [] synonym: "Fuch endothelial dystrophy" EXACT [] synonym: "Fuchs atrophy" EXACT [] synonym: "Fuchs Corneal Dystrophy" EXACT [] synonym: "Fuchs Dystrophy" EXACT [] synonym: "Fuchs endothelial corneal dystrophy" EXACT [] xref: EFO:0003946 xref: GARD:10018 xref: ICD10CM:H18.51 xref: MESH:D005642 xref: MIM:PS136800 xref: MONDO:0005321 xref: NCI:C84721 xref: ORDO:98974 is_a: DOID:0060443 ! corneal endothelial dystrophy [Term] id: DOID:11557 name: acute serous otitis media def: "A acute transudative otitis media with thin, watery and sterile effusion. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false "DO"] synonym: "acute non-suppurative otitis media - serous" EXACT [] xref: ICD10CM:H65.0 xref: ICD9CM:381.01 xref: RDO:9003859 is_a: DOID:3697 ! acute transudative otitis media [Term] id: DOID:11558 name: acute allergic serous otitis media def: "A acute serous otitis media caused by an allergen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15301306 "DO"] xref: ICD9CM:381.04 is_a: DOID:11557 ! acute serous otitis media is_a: DOID:1205 ! allergic disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1156 name: chondrocalcinosis def: "An arthritis that has_material_basis_in the accumulation of salt crystals located_in joint. (DO)" [http://en.wikipedia.org/wiki/Chondrocalcinosis "DO", http://my.clevelandclinic.org/disorders/pseudogout/hic_pseudogout.aspx "DO", http://www.mayoclinic.com/health/pseudogout/DS00717 "DO", http://www.merckmanuals.com/professional/sec04/ch035/ch035c.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000421.htm "DO", http://www.rheumatology.org/practice/clinical/patients/diseases_and_conditions/pseudogout.asp "DO"] synonym: "Calcium Pyrophosphate Deposition Disease" EXACT [] synonym: "Calcium Pyrophosphate Dihydrate Deposition" EXACT [] synonym: "chondrocalcinoses" EXACT [] synonym: "pseudogout" EXACT [] xref: ICD9CM:712.1 xref: MESH:D002805 xref: NCI:C34955 xref: ORDO:1416 is_a: DOID:848 ! arthritis is_a: DOID:9005593 ! Crystal Arthropathies [Term] id: DOID:11561 name: hypertensive retinopathy def: "Degenerative changes to the RETINA due to HYPERTENSION." [MESH:D058437] synonym: "Hypertensive Retinopathies" EXACT [] xref: EFO:1000977 xref: ICD10CM:H35.03 xref: ICD9CM:362.11 xref: MESH:D058437 xref: NCI:C3514 xref: RDO:0007828 is_a: DOID:10763 ! hypertension is_a: DOID:5679 ! retinal disease [Term] id: DOID:11563 name: retinal vasculitis def: "A vasculitis that is characterized by inflammation of the vascular branches of the retinal artery and has_symptom painless decrease of visual acuity, visual floaters, dark spot in vision, decreased ability to distinguish colors, and distortion of images such as linear images. (DO)" [https://en.wikipedia.org/wiki/Retinal_vasculitis "DO"] xref: EFO:1001156 xref: ICD10CM:H35.06 xref: ICD9CM:362.18 xref: MESH:D031300 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:865 ! vasculitis [Term] id: DOID:11569 name: neurocirculatory asthenia def: "A somatoform disorder that involves heart disease symptoms without any identifiable physiological abnormalities. (DO)" [http://en.wikipedia.org/wiki/Da_Costa%27s_syndrome "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1277260/ "DO"] synonym: "cardiac neuroses" EXACT [] synonym: "cardiac neurosis" EXACT [] synonym: "cardiovascular malfunction arising from mental factors" EXACT [] synonym: "cardiovascular neurosis" EXACT [] synonym: "Da Costa's syndrome" EXACT [] synonym: "Effort Syndrome" EXACT [] synonym: "hyperkinetic heart syndrome" EXACT [] synonym: "Krishaber's disease" EXACT [] synonym: "neurocirculatory asthenias" EXACT [] xref: ICD9CM:306.2 xref: MESH:D009449 is_a: DOID:2030 ! anxiety disorder is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:11572 name: listeria meningitis def: "A bacterial meningitis that has_material_basis_in Listeria monocytogenes infection. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21877182 "DO"] synonym: "Listeria Cerebritis" EXACT [] synonym: "Listeria Meningoencephalitis" EXACT [] synonym: "Listeria monocytogenes Meningitis" EXACT [] xref: EFO:1001021 xref: MESH:D008584 xref: MONDO:0006836 is_a: DOID:11573 ! listeriosis is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:11573 name: listeriosis def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Listeria monocytogenes, which is transmitted_by ingestion of contaminated food or raw milk or transmitted_by congenital method. Ingestion of Listeria by pregnant women has_symptom nausea, has_symptom vomiting, has_symptom diarrhea, has_symptom fever, has_symptom malaise, has_symptom back pain, and has_symptom headache. Maternal infection with Listeria can result in chorioamnionitis, premature labor, spontaneous abortion, or stillbirth. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001380.htm "DO"] synonym: "infection by listeria monocytogenes" EXACT [] synonym: "Listeria Infection" EXACT [] synonym: "Listeria Infections" EXACT [] synonym: "Listerioses" EXACT [] xref: EFO:0007347 xref: ICD10CM:A32 xref: ICD9CM:027.0 xref: MESH:D008088 xref: NCI:C82994 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002823 ! Gram-Positive Bacterial Infections [Term] id: DOID:11574 name: streptococcal meningitis def: "A bacterial meningitis that has_material_basis_in streptococcal bacteria. (DO)" [https://medlineplus.gov/ency/article/000607.htm "DO"] xref: ICD10CM:G00.2 xref: ICD9CM:320.2 is_a: DOID:9470 ! bacterial meningitis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:11577 name: Cauda equina syndrome def: "A peripheral nervous system disease that involves an acute loss of function of the lumbar plexus, neurologic elements (nerve roots) of the spinal canal below the termination (conus) of the spinal cord. (DO)" [http://en.wikipedia.org/wiki/Cauda_equina_syndrome "DO"] synonym: "cauda equina syndromes" EXACT [] xref: EFO:0007196 xref: GARD:10987 xref: ICD10CM:G83.4 xref: ICD9CM:344.6 xref: MESH:D000077684 xref: NCI:C35436 is_a: DOID:225 ! syndrome is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:11581 name: phlyctenulosis synonym: "phlyctenular keratoconjunctivitis" EXACT [] synonym: "strumous ophthalmia" EXACT [] xref: ICD10CM:H16.25 xref: ICD9CM:370.31 is_a: DOID:9368 ! keratoconjunctivitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:11589 name: Riley-Day syndrome alt_id: MIM:223900 def: "A hereditary sensory neuropathy that is characterized by gastrointestinal dysfunction, gastroesophageal reflux, vomiting crises, recurrent pneumonia, seizures, gait abnormalities with loss of ambulation, kyphoscoliosis, postural hypotension, hypertension crises, absence of fungiform papillae on the tongue, decreased deep tendon reflexes, defective lacrimation, and impaired pain and temperature perception and has_material_basis_in homozygous or compound heterozygous mutation in the IKBKAP gene (ELP1) on chromosome 9q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26769677/ "DO"] synonym: "dominant hereditary sensory neuropathy, type 3" EXACT [] synonym: "dominant hereditary sensory neuropathy, type III" EXACT [] synonym: "DYS" EXACT [] synonym: "familial autonomic nervous dysfunction" EXACT [] synonym: "familial dysautonomia" EXACT [] synonym: "FD" EXACT [] synonym: "hereditary and autonomic neuropathy, type III" EXACT [] synonym: "hereditary sensory and autonomic neuropathy 3" EXACT [] synonym: "Hereditary Sensory and Autonomic Neuropathy Type III" EXACT [] synonym: "hereditary sensory neuropathy type 3" EXACT [] synonym: "HSAN (hereditary sensory and autonomic neuropathy) type III" EXACT [] synonym: "HSAN 3" EXACT [] synonym: "HSAN3" EXACT [] synonym: "HSAN III" EXACT [] synonym: "HSAN type III" EXACT [] synonym: "HSN-III" EXACT [] xref: ICD10CM:G90.1 xref: MESH:D004402 xref: NCI:C84706 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:225 ! syndrome is_a: DOID:9003171 ! Primary Dysautonomias [Term] id: DOID:1159 name: functional gastric disease xref: ICD9CM:536.8 xref: RDO:9003446 is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11593 name: bladder lateral wall cancer synonym: "Lateral Wall of bladder" EXACT [NCI2004_11_17:C12333] synonym: "lateral wall of bladder cancer" EXACT [] synonym: "malignant neoplasm of lateral wall of urinary bladder" EXACT [] xref: ICD10CM:C67.2 xref: ICD9CM:188.2 xref: NCI:C12333 xref: RDO:9001946 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11594 name: ring staphyloma xref: ICD10CM:H15.85 xref: ICD9CM:379.15 is_a: DOID:11595 ! scleral staphyloma [Term] id: DOID:11595 name: scleral staphyloma synonym: "Scleral ectasia" EXACT [] is_a: DOID:11343 ! scleral disease [Term] id: DOID:11599 name: Frey syndrome alt_id: MIM:144100 def: "An autonomic nervous system disease that is characterized by facial sweating and flushing with gustatory stimulation, resulting from a disruption of the auriculotemporal nerve pathways. (DO)" [https://pubmed.ncbi.nlm.nih.gov/12269550/ "DO"] synonym: "auriculotemporal nerve syndrome" EXACT [] synonym: "auriculotemporal syndrome" EXACT [] synonym: "Baillarger Syndrome" EXACT [] synonym: "Frey's Syndrome" EXACT [] synonym: "gustatory hyperhidroses" EXACT [] synonym: "Gustatory Hyperhidrosis" EXACT [] synonym: "gustatory sweating" EXACT [] synonym: "Salivosudoriparous Syndrome" EXACT [] synonym: "salivosudoriparous syndromes" EXACT [] synonym: "von Frey's Syndrome" EXACT [] synonym: "von Freys syndrome" EXACT [] synonym: "von Frey syndrome" EXACT [] xref: EFO:1000940 xref: GARD:6467 xref: MESH:D013547 is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:225 ! syndrome is_a: DOID:9004062 ! Hyperhidrosis [Term] id: DOID:116 name: pericardium cancer synonym: "malignant neoplasm of pericardium" EXACT [] synonym: "malignant tumor of Pericardium" EXACT [NCI2004_11_17:C4567] synonym: "Pericardial tumor" EXACT [NCI2004_11_17:C4651] xref: ICD10CM:C38.0 xref: NCI:C4567 xref: NCI:C4651 xref: RDO:9002747 is_a: DOID:0050829 ! pericardium disease is_a: DOID:117 ! heart cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11603 name: infant gynecomastia def: "A breast disease that is characterized by benign proliferation of glandular breast tissue and occurs in children less than one year of age. (DO)" [https://www.aafp.org/afp/2012/0401/p716.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/28260521 "DO"] synonym: "breast engorgement in newborn" EXACT [] synonym: "neonatal gynaecomastia" EXACT [] synonym: "newborn gynecomastia" EXACT [] xref: ICD10CM:P83.4 xref: ICD9CM:778.7 xref: NCI:C117312 is_a: DOID:12698 ! gynecomastia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:11608 name: fungal meningitis def: "A meningitis that has_material_basis_in a fungal infection. (DO)" [https://en.wikipedia.org/wiki/Fungal_meningitis "DO"] synonym: "fungal meningitides" EXACT [] synonym: "fungal pachymeningitides" EXACT [] synonym: "fungal pachymeningitis" EXACT [] xref: EFO:1000942 xref: MESH:D016921 is_a: DOID:9001177 ! Central Nervous System Fungal Infections is_a: DOID:9471 ! meningitis [Term] id: DOID:11612 name: polycystic ovary syndrome alt_id: MIM:184700 def: "An ovarian dysfunction that is characterized by hyperandrogenism, polycystic ovaries, hirsutism, oligomenorrhea or amenorrhea, anovulation and excessive body weight. (DO)" [http://ghr.nlm.nih.gov/glossary=polycysticovarysyndrome "DO", https://en.wikipedia.org/wiki/Polycystic_ovary_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/28791858 "DO", https://www.ncbi.nlm.nih.gov/pubmed/20591140 "DO"] synonym: "hyperandrogenemia" EXACT [] synonym: "Multicystic ovaries" EXACT [] synonym: "PCO" EXACT [] synonym: "PCO1" EXACT [] synonym: "PCOS" EXACT [] synonym: "PCOS1" EXACT [] synonym: "Polycystic Ovarian disease" EXACT [NCI2004_11_17:C27086] synonym: "Polycystic Ovarian Syndrome" EXACT [] synonym: "Polycystic ovaries" EXACT [] synonym: "polycystic ovary" EXACT [CSP2005:2587-6111] synonym: "Polycystic Ovary Syndrome 1" EXACT [] synonym: "POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO" RELATED [] synonym: "Sclerocystic Ovarian Degeneration" EXACT [] synonym: "Sclerocystic Ovaries" EXACT [] synonym: "Sclerocystic Ovary" EXACT [] synonym: "Sclerocystic Ovary Syndrome" EXACT [] synonym: "Stein-Leventhal synd." EXACT [] synonym: "Stein Leventhal syndrome" EXACT [] xref: EFO:0000660 xref: ICD10CM:E28.2 xref: ICD9CM:256.4 xref: MESH:D011085 xref: NCI:C26862 xref: NCI:C92847 is_a: DOID:1414 ! ovarian dysfunction is_a: DOID:225 ! syndrome is_a: DOID:5119 ! ovarian cyst [Term] id: DOID:11613 name: hyperandrogenism alt_id: RDO:0003503 def: "A condition caused by the excessive secretion of ANDROGENS from the ADRENAL CORTEX; the OVARIES; or the TESTES. The clinical significance in males is negligible. In women, the common manifestations are HIRSUTISM and VIRILISM as seen in patients with POLYCYSTIC OVARY SYNDROME and ADRENOCORTICAL HYPERFUNCTION." [MESH:D017588] synonym: "hyperandrogenization syndrome" EXACT [SNOMEDCT_2005_07_31:237793004] xref: EFO:0009006 xref: MESH:D017588 is_a: DOID:1923 ! disorder of sexual development is_a: DOID:9002128 ! Adrenogenital Syndrome is_a: DOID:9005851 ! 46, XX Disorders of Sex Development [Term] id: DOID:11615 name: penile cancer synonym: "cancer of penis" EXACT [] synonym: "Ca penis" EXACT [SNOMEDCT_2005_07_31:154536009] synonym: "malignant neoplasm of body of penis" EXACT [] synonym: "malignant penile tumor" EXACT [] synonym: "penile Ca" EXACT [SNOMEDCT_2005_07_31:93954003] synonym: "penile cancers" EXACT [] synonym: "penis cancer" EXACT [] synonym: "penis cancers" EXACT [] xref: ICD10CM:C60 xref: ICD10CM:C60.2 xref: ICD9CM:187.3 xref: ICD9CM:187.4 xref: NCI:C7547 is_a: DOID:3856 ! male reproductive organ cancer is_a: DOID:9003196 ! Penile Neoplasms created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:11623 name: dental pulp necrosis def: "A dental pulp disease characterized by death of the pulp tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/3867505/ "DO", https://www.aae.org/specialty/wp-content/uploads/sites/2/2017/07/endodonticdiagnosisfall2013.pdf "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6481543/ "DO"] synonym: "dental pulp autolyses" EXACT [] synonym: "Dental Pulp Autolysis" EXACT [] synonym: "Dental Pulp Gangrene" EXACT [] synonym: "dental pulp necroses" EXACT [] synonym: "necrosis of the pulp" EXACT [] synonym: "necrotic pulp" EXACT [] synonym: "Pulp Gangrene" EXACT [] synonym: "Pulp Gangrenes" EXACT [] synonym: "Pulp Mummification" EXACT [] synonym: "Pulp Mummifications" EXACT [] synonym: "pulp necroses" EXACT [] synonym: "pulp necrosis" EXACT [] xref: ICD10CM:K04.1 xref: ICD9CM:522.1 xref: MESH:D003790 is_a: DOID:5330 ! dental pulp disease is_a: DOID:9005749 ! Necrosis [Term] id: DOID:11624 name: penile benign neoplasm synonym: "EFO:1001094" EXACT [] xref: EFO:1001094 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:9003196 ! Penile Neoplasms [Term] id: DOID:11629 name: pelvic muscle wasting def: "A prolapse of female genital organ that is characterized by a decrease in muscle mass and tissue in the pelvic floor, vagina, vulva and urinary tract due to aging, menopause and its subsequent reduction of estrogen, or a combination of the two. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27219835/ "DO"] xref: ICD10CM:N81.84 xref: ICD9CM:618.83 is_a: DOID:1284 ! prolapse of female genital organ created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:11633 name: thyroid hormone resistance syndrome def: "An inherited autosomal recessive trait, characterized by peripheral resistance to THYROID HORMONES and the resulting elevation in serum levels of THYROXINE and TRIIODOTHYRONINE. This syndrome is caused by mutations of gene THRB encoding the THYROID HORMONE RECEPTORS BETA in target cells. HYPOTHYROIDISM in these patients is partly overcome by the increased thyroid hormone levels." [MESH:D018382] synonym: "generalized resistance to thyroid hormone" EXACT [] synonym: "generalized thyroid hormone resistance" EXACT [] synonym: "GRTH" EXACT [] synonym: "GTHR" EXACT [] synonym: "Refetoff DeWind DeGroot syndrome" EXACT [] synonym: "Refetoff syndrome" EXACT [] synonym: "THRB-RELATED CONDITION" BROAD [] synonym: "thyroid hormone resistance" EXACT [] synonym: "thyroid hormone responsiveness defect" EXACT [] synonym: "thyroid hormone unresponsiveness" EXACT [] xref: MESH:D018382 xref: NCI:C131816 xref: NCI:C85191 is_a: DOID:1459 ! hypothyroidism is_a: DOID:225 ! syndrome is_a: DOID:2855 ! hyperthyroxinemia [Term] id: DOID:11634 name: myxedema alt_id: MIM:255900 def: "A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips." [MESH:D009230] synonym: "myxedemas" EXACT [] xref: EFO:1001055 xref: MESH:D009230 xref: NCI:C34834 is_a: DOID:1459 ! hypothyroidism is_a: DOID:3141 ! mucinoses [Term] id: DOID:11637 name: accommodative spasm synonym: "spasm of accommodation" EXACT [] xref: ICD10CM:H52.53 xref: ICD9CM:367.53 is_a: DOID:10034 ! eye accommodation disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11638 name: presbyopia def: "The normal decreasing elasticity of the crystalline lens that leads to loss of accommodation." [MESH:D011305] synonym: "presbyopias" EXACT [] xref: ICD10CM:H52.4 xref: ICD9CM:367.4 xref: MESH:D011305 is_a: DOID:10034 ! eye accommodation disease is_a: DOID:9835 ! refractive error [Term] id: DOID:11650 name: bronchopulmonary dysplasia alt_id: DOID:9001403 def: "A lung disease that is characterized by underdeveloped lungs in newborns that can be easily irritated or inflamed after birth resulting in damage to the alveoli of the lungs and bronchi. Most newborns who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds at birth, and have breathing problems. (DO)" [https://www.nhlbi.nih.gov/health/bronchopulmonary-dysplasia "DO"] synonym: "bronchopulmonary dysplasia of newborn" EXACT [] synonym: "bronchopulmonary dysplasias" EXACT [] synonym: "Chronic lung disease of prematurity" EXACT [] synonym: "Neonatal chronic lung disease" EXACT [] synonym: "neonatal chronic respiratory disease" EXACT [] synonym: "perinatal bronchopulmonary dysplasia" EXACT [] xref: ICD10CM:P27.1 xref: MESH:D001997 xref: MONDO:0019091 xref: NCI:C90599 is_a: DOID:9000945 ! Ventilator-Induced Lung Injury is_a: DOID:9004676 ! Premature Infant Diseases created_by: mtutaj creation_date: 2023-01-30T20:27:47Z [Term] id: DOID:11653 name: conjunctival deposit xref: ICD10CM:H11.11 xref: ICD9CM:372.56 is_a: DOID:4251 ! conjunctival disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11656 name: cicatricial pemphigoid alt_id: MIM:164185 def: "A pemphigoid that is characterized by skin lesions and scaring and located_in mucous membranes and located_in skin. (DO)" [http://en.wikipedia.org/wiki/Cicatricial_pemphigoid "DO", http://www.merckmanuals.com/professional/eye_disorders/conjunctival_and_scleral_disorders/cicatricial_pemphigoid.html "DO"] synonym: "benign mucosal pemphigoid" EXACT [] synonym: "benign mucosal pemphigoids" EXACT [] synonym: "benign mucous membrane pemphigoid" EXACT [] synonym: "benign mucous membrane pemphigoid with ocular involvement" EXACT [] synonym: "cicatricial pemphigoid with ocular involvement" EXACT [] synonym: "localised cicatricial pemphigoid" NARROW [] synonym: "mucous membrane pemphigoid" EXACT [] synonym: "Ocular Cicatricial Pemphigoid" EXACT [] synonym: "ocular cicatricial pemphigoids" EXACT [] synonym: "ocular pemphigoid" EXACT [] synonym: "ocular pemphigus" EXACT [] synonym: "vegetating cicatricial pemphigoid" NARROW [] xref: EFO:0008610 xref: EFO:0008611 xref: EFO:0008612 xref: EFO:1000680 xref: GARD:5913 xref: ICD10CM:L12.1 xref: ICD9CM:694.6 xref: ICD9CM:694.61 xref: MESH:D010390 xref: NCI:C34907 is_a: DOID:0080841 ! pemphigoid is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:1166 name: palindromic rheumatism def: "An arthritis that involves sudden and rapidly developing attacks of arthritis with a remission period that results_in no joint damage or symptoms. (DO)" [http://arthritis.about.com/od/diseasesandconditions/a/palindromic.htm "DO", http://en.wikipedia.org/wiki/Palindromic_rheumatism "DO", http://www.palindromicrheumatism.org/ "DO", https://rarediseases.info.nih.gov/diseases/7304/palindromic-rheumatism "DO", https://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/expert-answers/palindromic-rheumatism/faq-20058516 "DO"] synonym: "Hench's syndrome" EXACT [] synonym: "Hench-Rosenberg syndrome" EXACT [] synonym: "palindromic rheumatism syndrome" EXACT [] xref: GARD:7304 xref: ICD10CM:M12.3 xref: ICD10CM:M12.30 xref: ICD9CM:719.3 xref: ICD9CM:719.31 xref: MESH:C538103 is_a: DOID:225 ! syndrome is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:11661 name: blue color blindness def: "A color blindness that is characterized by a selective deficiency of blue vision, has_material_basis_in autosomal dominant inheritance of a mutation in the OPN1SW gene and is associated with a deficiency or absence of blue-sensitive cone photoreceptor function. (DO)" [http://www.omim.org/entry/190900 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=88629 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2788922 "DO"] synonym: "blue colorblindness" EXACT [] synonym: "CBT" EXACT [] synonym: "COLORBLINDNESS, TRITAN" EXACT [] synonym: "COLORBLINDNESS, TRITANOPIC" EXACT [] synonym: "tritan defect" EXACT [] synonym: "tritanopia" EXACT [] xref: ICD10CM:H53.55 xref: ICD9CM:368.53 xref: MIM:190900 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13399 ! color blindness [Term] id: DOID:11664 name: nephrosclerosis def: "Hardening of the KIDNEY due to infiltration by fibrous connective tissue (FIBROSIS), usually caused by renovascular diseases or chronic HYPERTENSION. Nephrosclerosis leads to renal ISCHEMIA." [MESH:D009400] synonym: "Nephroscleroses" EXACT [] synonym: "renal sclerosis" EXACT [] xref: EFO:1000041 xref: GARD:7179 xref: ICD10CM:I12 xref: ICD10CM:N26.9 xref: ICD9CM:587 xref: MESH:D009400 is_a: DOID:1073 ! renal hypertension is_a: DOID:557 ! kidney disease [Term] id: DOID:11665 name: Patau syndrome synonym: "Bartholin-Patau syndrome" EXACT [] synonym: "chromosome 13 duplication" EXACT [] synonym: "Chromosome 13 trisomy syndrome" EXACT [] synonym: "Complete Trisomy 13 Syndrome" EXACT [] synonym: "D1 trisomy" EXACT [] synonym: "Patau's Syndrome" EXACT [] synonym: "Trisomy 13" EXACT [] synonym: "trisomy 13 syndrome" EXACT [] xref: ICD10CM:Q91.7 xref: ICD9CM:758.1 xref: MESH:C536305 xref: NCI:C101223 xref: NCI:C36529 is_a: DOID:225 ! syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:11668 name: hypopigmentation of eyelid def: "A pigmentation disease that is characterized by loss of pigmentation of the eyelid and has_symptom white or light macules or patches on the eyelid, and has_material_basis_in autoimmune conditions like vitiligo, chronic inflammation, malignancy, or exposure to destructive substances. (DO)" [https://en.wikipedia.org/wiki/Vitiligo "DO", https://www.aafp.org/afp/1998/0601/p2695.html "DO"] xref: EFO:1000713 xref: ICD10CM:H02.73 xref: ICD9CM:374.53 is_a: DOID:530 ! eyelid disease is_a: DOID:9005660 ! Hypopigmentation created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:11669 name: hypertrichosis of eyelid xref: ICD10CM:H02.86 xref: ICD9CM:374.54 is_a: DOID:420 ! hypertrichosis is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11671 name: hypotrichosis of eyelid xref: ICD10CM:H02.72 xref: ICD9CM:374.55 is_a: DOID:4535 ! hypotrichosis is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11678 name: onchocerciasis def: "A filariasis that involves parasitic infection caused by the nematode Onchocerca volvulus, which is transmitted to humans through the bite of a blackfly of the genus Simulium. The worms spread throughout the body and, when they die, cause intense itching and a strong immune system response that can destroy nearby tissue. The symptoms include pruritus, dermatitis, blindness, onchocercomata (subcutaneous nodules), and lymphadenopathy. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Filariasis.htm "DO"] synonym: "infection by Onchocerca volvulus" EXACT [] synonym: "Onchocerca volvulus infection" EXACT [] synonym: "Onchocerciases" EXACT [] synonym: "volvulosis" EXACT [] xref: EFO:0007402 xref: GARD:7252 xref: ICD10CM:B73 xref: ICD9CM:125.3 xref: MESH:D009855 xref: NCI:C34861 is_a: DOID:1080 ! filariasis is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:1168 name: familial hyperlipidemia def: "Conditions with excess LIPIDS in the blood." [MESH:D006949] synonym: "familial hyperlipoproteinemia" EXACT [] synonym: "Hyperlipemia" EXACT [] synonym: "hyperlipemias" EXACT [] synonym: "hyperlipidaemia" RELATED [] synonym: "Hyperlipidemia" EXACT [] synonym: "Lipemia" EXACT [] synonym: "Lipemias" EXACT [] synonym: "Lipidemia" EXACT [] synonym: "lipidemias" EXACT [] xref: EFO:0003774 xref: ICD10CM:E78.5 xref: MESH:D006949 xref: MONDO:0001336 xref: MONDO:0021187 xref: NCI:C34707 xref: NCI:C34709 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9003370 ! Dyslipidemias [Term] id: DOID:11684 name: melanoacanthoma xref: EFO:1000733 xref: NCI:C27548 xref: RDO:9003559 is_a: DOID:6498 ! seborrheic keratosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11685 name: inflamed seborrheic keratosis xref: ICD10CM:L82.0 xref: ICD9CM:702.11 is_a: DOID:6498 ! seborrheic keratosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11693 name: acute apical periodontitis synonym: "acute apical periodontitis of pulpal origin" EXACT [] xref: ICD10CM:K04.4 xref: ICD9CM:522.4 xref: RDO:9003073 is_a: DOID:823 ! periapical periodontitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11695 name: portal vein thrombosis def: "A hepatic vascular disease that is characterized by a blood clot that forms within the hepatic portal vein. (DO)" [http://en.wikipedia.org/wiki/Portal_vein_thrombosis "DO"] xref: ICD10CM:I81 xref: ICD9CM:452 xref: NCI:C78565 is_a: DOID:272 ! hepatic vascular disease is_a: DOID:9003871 ! Venous Thrombosis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:117 name: heart cancer def: "A cardiovascular cancer located_in the heart. (DO)" [http://en.wikipedia.org/wiki/Heart_cancer "DO"] synonym: "cardiac cancer" EXACT [] synonym: "cardiac cancers" EXACT [] synonym: "heart cancers" EXACT [] synonym: "malignant cardiac tumor" EXACT [] synonym: "malignant neoplasm of heart" EXACT [] xref: GARD:2619 xref: ICD9CM:164.1 xref: MESH:D006338 xref: NCI:C3081 xref: NCI:C3548 is_a: DOID:176 ! cardiovascular cancer is_a: DOID:5093 ! thoracic cancer is_a: DOID:9006547 ! Heart Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11701 name: selective IgA deficiency disease alt_id: MIM:137100 def: "A selective immunoglobulin deficiency disease that is the result of a deficiency of immunoglobulin A (IgA), an antibody that protects against infections of the mucous membranes lining the mouth, airways, and digestive tract. (DO)" [http://en.wikipedia.org/wiki/Selective_immunoglobulin_A_deficiency "DO"] synonym: "Gamma-a-globulin, selective deficiency of" EXACT [] synonym: "IGAD1" EXACT [] synonym: "Iga, selective deficiency of" EXACT [] synonym: "Immunoglobulin A deficiency" EXACT [SNOMEDCT_2005_07_31:29260007] synonym: "Immunoglobulin A Deficiency 1" EXACT [] synonym: "Immunoglobulin a, selective deficiency of" EXACT [] synonym: "selective IgA immunodeficiency" EXACT [] synonym: "selective immunoglobulin A deficiency" EXACT [] xref: EFO:1001929 xref: MESH:C536290 xref: NCI:C123434 xref: NCI:C26964 is_a: DOID:0060025 ! immunoglobulin alpha deficiency is_a: DOID:11702 ! dysgammaglobulinemia [Term] id: DOID:11702 name: dysgammaglobulinemia def: "A selective immunoglobulin deficiency disease that is caused by a reduction in some types of gamma globulins. (DO)" [http://en.wikipedia.org/wiki/Dysgammaglobulinemia "DO"] synonym: "dysgammaglobulinemias" EXACT [] xref: MESH:D004406 is_a: DOID:6025 ! selective immunoglobulin deficiency disease is_a: DOID:620 ! blood protein disease [Term] id: DOID:1171 name: hyperlipoproteinemia type V alt_id: MIM:144650 def: "A severe type of hyperlipidemia, sometimes familial, that is characterized by the elevation of both plasma CHYLOMICRONS and TRIGLYCERIDES contained in VERY-LOW-DENSITY LIPOPROTEINS. Type V hyperlipoproteinemia is often associated with DIABETES MELLITUS and is not caused by reduced LIPOPROTEIN LIPASE activity as in HYPERLIPOPROTEINEMIA TYPE I ." [MESH:D006954] synonym: "familial hyperlipoproteinemia type 5" EXACT [] synonym: "familial hyperlipoproteinemia type V" EXACT [] synonym: "Fredrickson type V lipaemia" EXACT [] synonym: "Hyperchylomicronemia Late Onset" EXACT [] synonym: "Hyperchylomicronemia With Hyperprebetalipoproteinemia, Familial" EXACT [] synonym: "Hyperlipemia, Combined Fat And Carbohydrate Induced" EXACT [] synonym: "hyperlipoproteinemias type V" EXACT [] synonym: "Hyperlipoproteinemia Type 5" EXACT [] synonym: "late-onset hyperchylomicronemias" EXACT [] synonym: "Mixed Hyperlipemia" EXACT [] synonym: "Mixed Hyperlipemias" EXACT [] synonym: "Type V Hyperlipidemia" EXACT [] synonym: "Type V Hyperlipidemias" EXACT [] xref: MESH:D006954 xref: NCI:C35645 is_a: DOID:1168 ! familial hyperlipidemia is_a: DOID:9006599 ! Hypertriglyceridemia is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:11712 name: lipoatrophic diabetes mellitus def: "A type 2 diabetes mellitus that is characterized by severe insulin resistance and lipodystrophy. (DO)" [http://en.wikipedia.org/wiki/Lipoatrophic_diabetes "DO"] synonym: "FAMILIAL PARTIAL LIPODYSTROPHY 2" EXACT [] synonym: "lipoatrophic diabetes" EXACT [] xref: EFO:0007346 xref: MESH:D003923 xref: NCI:C34537 is_a: DOID:811 ! lipodystrophy is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:11713 name: diabetic angiopathy alt_id: DOID:10182 alt_id: MIM:603933 alt_id: MIM:612623 alt_id: MIM:612624 alt_id: MIM:612628 alt_id: MIM:612633 alt_id: MIM:612634 alt_id: MIM:612635 def: "A peripheral vascular disease that is characterized by narrowing of the arteries as a complication arising from chronic diabetes. (DO)" [https://en.wikipedia.org/wiki/Diabetic_angiopathy "DO"] synonym: "diabetic angiopathies" EXACT [] synonym: "diabetic microangiopathies" EXACT [] synonym: "Diabetic Microangiopathy" EXACT [] synonym: "diabetic neuropathy, susceptibility to" RELATED [] synonym: "diabetic nonproliferative retinopathy, susceptibility to" RELATED [] synonym: "diabetic peripheral angiopathy" EXACT [] synonym: "diabetic proliferative retinopathy, susceptibility to" RELATED [] synonym: "diabetic retinopathy, susceptibility to" RELATED [] synonym: "diabetic vascular complication" EXACT [] synonym: "diabetic vascular complications" EXACT [] synonym: "diabetic vascular disease" EXACT [] synonym: "diabetic vascular diseases" EXACT [] synonym: "diabetic vascular disorder" EXACT [] synonym: "END-STAGE RENAL DISEASE, DIABETIC, SUSCEPTIBILITY TO" RELATED [] synonym: "macrovascular complications of diabetes" RELATED [] synonym: "microvascular complications of diabetes, protection against" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 1" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 2" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 3" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 4" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 5" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 6" RELATED [] synonym: "microvascular complications of diabetes, susceptibility to, 7" RELATED [] synonym: "MVCD1" RELATED [] synonym: "MVCD2" RELATED [] synonym: "MVCD3" RELATED [] synonym: "MVCD4" RELATED [] synonym: "MVCD5" RELATED [] synonym: "MVCD6" RELATED [] synonym: "MVCD7" RELATED [] synonym: "SUPEROXIDE DISMUTASE 2 POLYMORPHISM" RELATED [] xref: EFO:0010977 xref: EFO:1000896 xref: ICD9CM:250.7 xref: MESH:D003925 xref: MIM:PS603933 xref: NCI:C35610 is_a: DOID:341 ! peripheral vascular disease is_a: DOID:9002661 ! Diabetes Complications is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:11714 name: gestational diabetes def: "A diabetes mellitus that manifests during pregnancy. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26824237/ "DO"] synonym: "GDM" EXACT [] synonym: "gestational diabetes mellitus" EXACT [] synonym: "GESTATIONAL DIABETES MELLITUS UNCONTROLLED" NARROW [] synonym: "maternal gestational diabetes mellitus" EXACT [] synonym: "Pregnancy-Induced Diabetes" EXACT [] xref: EFO:0004593 xref: ICD10CM:O24.4 xref: MESH:D016640 xref: NCI:C34942 is_a: DOID:9004702 ! Pregnancy Complications is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:11716 name: prediabetes syndrome def: "A glucose metabolism disease that is characterized by blood glucose levels are high, but not high enough to be classified as type 2 diabetes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26280340/ "DO"] synonym: "prediabetes" EXACT [] synonym: "prediabetic state" EXACT [] synonym: "prediabetic states" EXACT [] xref: EFO:1001121 xref: MESH:D011236 xref: NCI:C122685 is_a: DOID:4194 ! glucose metabolism disease is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:11717 name: neonatal diabetes def: "A diabetes mellitus that is characterized by hyperglycemia occurring within the first 6 months of life. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5928785/ "DO"] synonym: "diabetes mellitus syndrome in newborn infant" EXACT [] synonym: "neonatal diabetes mellitus" EXACT [] xref: ICD10CM:P70.2 xref: ICD9CM:775.1 xref: NCI:C99248 is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9351 ! diabetes mellitus created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:11718 name: antidepressant type abuse def: "A substance abuse that involves the recurring use of antidepressant drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Antidepressant "DO"] synonym: "antidepressant use disorder" EXACT [] xref: ICD9CM:305.8 is_a: DOID:302 ! substance abuse created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:11719 name: oculopharyngeal muscular dystrophy alt_id: MIM:164300 def: "An autosomal dominant hereditary disease that presents in late in life and is characterized by DYSPHAGIA and progressive ptosis of the eyelids. Mutations in the gene for POLY(A)-BINDING PROTEIN II have been associated with oculopharyngeal muscular dystrophy." [MESH:D039141] synonym: "oculopharyngeal dystrophy" EXACT [] synonym: "oculopharyngeal muscular dystrophies" EXACT [] synonym: "oculopharyngeal muscular dystrophy 1" EXACT [] synonym: "OPMD" EXACT [] synonym: "OPMD1" EXACT [] synonym: "progressive muscular dystrophy, oculopharyngeal type" EXACT [] xref: MESH:D039141 xref: NCI:C84942 is_a: DOID:929 ! myopathy of extraocular muscle is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:1172 name: hyperlipoproteinemia type IV alt_id: MIM:144600 alt_id: MIM:145750 def: "A hypertriglyceridemia disorder, often with autosomal dominant inheritance. It is characterized by the persistent elevations of plasma TRIGLYCERIDES, endogenously synthesized and contained predominantly in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins). In contrast, the plasma CHOLESTEROL and PHOSPHOLIPIDS usually remain within normal limits." [MESH:D006953] synonym: "carbohydrate inducible hyperlipemia" EXACT [] synonym: "carbohydrate inducible hyperlipemias" EXACT [] synonym: "endogenous hyperlipidaemia" EXACT [] synonym: "Familial Hyperlipoproteinemia Type 4" EXACT [] synonym: "Familial Type IV Hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type IV hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type IV lipidaemia" EXACT [] synonym: "Fredrickson type IV lipidemia" EXACT [] synonym: "Hyper prebeta lipoproteinemia" EXACT [] synonym: "hyperprebetalipoproteinemia" EXACT [] synonym: "type IV hyperlipoproteinemias" EXACT [] synonym: "VLDL hyperlipoproteinemia" EXACT [] xref: ICD10CM:E78.1 xref: ICD9CM:272.1 xref: MESH:D006953 xref: NCI:C34711 is_a: DOID:9006599 ! Hypertriglyceridemia is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:11720 name: distal myopathy def: "A muscular dystrophy that is characterized by predominant weakness and atrophy beginning in the feet and/or hands. (DO)" [https://rarediseases.org/rare-diseases/distal-myopathy/ "DO"] synonym: "distal muscle weakness" EXACT [] synonym: "distal muscular dystrophies" EXACT [] synonym: "distal muscular dystrophy" EXACT [] synonym: "distal myopathy, early-onset, autosomal dominant" EXACT [] synonym: "distal myopathy, late hereditary" EXACT [] synonym: "distal myopathy, Markesbery Griggs type" EXACT [] xref: ICD10CM:G71.09 xref: MESH:D049310 xref: MIM:PS160500 xref: NCI:C84675 xref: ORDO:399086 xref: ORDO:399096 xref: ORDO:5448 xref: ORDO:63273 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11721 name: glycogen storage disease VII alt_id: MIM:232800 alt_id: OMIA:000421 def: "A glycogen storage disease that is characterized by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis and that has_material_basis_in homozygous or compound heterozygous mutation in the PFKM gene, which encodes muscle phosphofructokinase, on chromosome 12q13. (DO)" [https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vii/ "DO"] synonym: "glycogenosis 7" EXACT [] synonym: "Glycogen storage disease 7" EXACT [] synonym: "glycogen storage disease type VII" EXACT [] synonym: "GSD7" EXACT [] synonym: "GSD VII" EXACT [] synonym: "muscle phosphofructokinase deficiencies" EXACT [] synonym: "Muscle Phosphofructokinase Deficiency" EXACT [] synonym: "PFKM deficiencies" EXACT [] synonym: "PFKM deficiency" EXACT [] synonym: "phosphofructokinase myopathy" EXACT [] synonym: "Tarui's disease" EXACT [] synonym: "Tarui Disease" EXACT [] synonym: "Taruis disease" EXACT [] xref: ICD10CM:E74.09 xref: MESH:D006014 xref: NCI:C118437 xref: ORDO:371 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11722 name: myotonic dystrophy type 1 alt_id: MIM:160900 def: "A myotonic disease that is characterized by progressive muscle wasting and weakness affecting the distal skeletal and smooth muscles of lower legs, hands, neck, and face along with myotonia and cataracts and has_material_basis_in the autosomal dominant inheritance of the DMPK gene containing an expansion of a CTG trinucleotide repeat in the non-coding region. (DO)" [http://en.wikipedia.org/wiki/Myotonic_dystrophy "DO", http://ghr.nlm.nih.gov/condition/myotonic-dystrophy "DO", http://omim.org/entry/160900 "DO", http://www.genome.gov/25521207 "DO", http://www.ncbi.nlm.nih.gov/books/NBK1165/ "DO"] synonym: "congenital myotonic dystrophies" EXACT [] synonym: "congenital myotonic dystrophy" EXACT [] synonym: "DM" EXACT [] synonym: "DM1" EXACT [] synonym: "dystrophia myotonica" EXACT [] synonym: "dystrophia myotonica 1" EXACT [] synonym: "myotonia atrophica" EXACT [] synonym: "Myotonia Dystrophica" EXACT [] synonym: "myotonic dystrophies" EXACT [] synonym: "Myotonic Dystrophy 1" EXACT [] synonym: "myotonic dystrophy of Steinert" EXACT [] synonym: "PROMM" EXACT [] synonym: "PROMM (Proximal Myotonic Myopathy)" EXACT [] synonym: "Proximal Myotonic Myopathies" EXACT [] synonym: "proximal myotonic myopathy" EXACT [] synonym: "Ricker syndrome" EXACT [] synonym: "Steinert's disease" EXACT [] synonym: "Steinert disease" EXACT [] synonym: "Steinert myotonic dystrophy" EXACT [] synonym: "Steinert myotonic dystrophy syndrome" EXACT [] synonym: "Steinerts disease" EXACT [] xref: GARD:8310 xref: ICD10CM:G71.11 xref: ICD9CM:359.21 xref: NCI:C84679 xref: NCI:C84914 is_a: DOID:450 ! myotonic disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:11723 name: Duchenne muscular dystrophy def: "A muscular dystrophy that has_material_basis_in X-linked mutations in the DMD gene found on the X chromosome. It is characterized by rapidly progressing muscle weakness and muscle atrophy initially involving the lower extremities and eventually affecting the whole body. It affects males whereas females can be carriers. The symptoms start before the age of six and may appear at infancy. (DO)" [http://en.wikipedia.org/wiki/Duchenne_muscular_dystrophy "DO", http://omim.org/entry/300377 "DO", http://www.genome.gov/19518854 "DO"] synonym: "childhood pseudohypertrophic muscular dystrophy" EXACT [] synonym: "DMD" EXACT [] synonym: "Duchenne and Becker muscular dystrophy" EXACT [] synonym: "Duchenne-Becker muscular dystrophy" EXACT [] synonym: "Duchenne Type Progressive Muscular Dystrophy" EXACT [] synonym: "DYSTROPHINOPATHIES" EXACT [] synonym: "INTERMEDIATE MUSCULAR DYSTROPHY" NARROW [] synonym: "muscular dystrophy, Duchenne and Becker types" EXACT [] synonym: "muscular dystrophy, Duchenne type" EXACT [] synonym: "pseudohypertrophic muscular dystrophy" EXACT [] synonym: "pseudohypertrophic progressive muscular dystrophy, Duchenne type" EXACT [] synonym: "X-linked DMD-related dystrophinopathy" RELATED [] xref: EFO:0000429 xref: GARD:6291 xref: MESH:D020388 xref: MIM:310200 xref: MONDO:0010679 xref: NCI:C75482 xref: OMIA:001081 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11724 name: limb-girdle muscular dystrophy def: "A muscular dystrophy that is characterized by weakening of the muscles of the hip and shoulders which comprise the limb girdle muscles. (DO)" [http://en.wikipedia.org/wiki/Limb-girdle_muscular_dystrophy "DO", http://ghr.nlm.nih.gov/condition/limb-girdle-muscular-dystrophy "DO", http://www.ncbi.nlm.nih.gov/books/NBK1408/ "DO"] synonym: "Erb's muscular dystrophy" EXACT [] synonym: "Leyden-Mbius muscular dystrophy" EXACT [] synonym: "limb-girdle muscular dystrophies" EXACT [] synonym: "LIMB-GIRDLE MUSCULAR DYSTROPHY, DOMINANT" NARROW [] synonym: "LIMB-GIRDLE MUSCULAR DYSTROPHY, RECESSIVE" NARROW [] synonym: "Limb-Girdle Syndrome" EXACT [] synonym: "myopathic limb-girdle syndrome" EXACT [] xref: EFO:0000758 xref: GARD:6907 xref: ICD10CM:G71.03 xref: MESH:D049288 xref: MIM:PS609308 xref: MONDO:0016971 xref: NCI:C84828 xref: ORDO:263 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11725 name: Cornelia de Lange syndrome def: "A syndrome that is characterized by slow growth before and after birth, intellectual disability that is usually severe to profound, skeletal abnormalities involving the arms and hands, and distinctive facial features. (DO)" [http://en.wikipedia.org/wiki/Cornelia_de_Lange_Syndrome "DO", http://ghr.nlm.nih.gov/condition/cornelia-de-lange-syndrome "DO", http://www.omim.org/entry/122470 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/30/viewAbstract "DO"] synonym: "BDLS" EXACT [] synonym: "Brachmann De Lange syndrome" EXACT [] synonym: "CDL" EXACT [] synonym: "CDLS" EXACT [] synonym: "de Lange's syndrome" EXACT [] synonym: "de Lange syndrome" EXACT [] synonym: "typus degenerativus amstelodamensis" EXACT [] synonym: "X-linked CDLS" EXACT [] xref: GARD:10109 xref: MESH:D003635 xref: MIM:PS122470 xref: NCI:C75016 xref: ORDO:199 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080014 ! chromosomal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:11726 name: Emery-Dreifuss muscular dystrophy def: "A muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle. (DO)" [http://en.wikipedia.org/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy "DO", http://ghr.nlm.nih.gov/condition/emery-dreifuss-muscular-dystrophy "DO"] synonym: "autosomal dominant Emery Dreifuss muscular dystrophy" NARROW [] synonym: "autosomal recessive Emery Dreifuss muscular dystrophy" NARROW [] synonym: "benign scapuloperoneal muscular dystrophy with cardiomyopathy" EXACT [] synonym: "benign scapuloperoneal muscular dystrophy with early contractures" EXACT [] synonym: "EDMD" EXACT [] synonym: "Emery Dreifuss syndrome" EXACT [] synonym: "Emery-Dreifuss type muscular dystrophy" EXACT [] synonym: "humeroperoneal neuromuscular disease" EXACT [] synonym: "X-linked Emery-Dreifuss muscular dystrophy" NARROW [] xref: EFO:0000463 xref: GARD:6329 xref: MESH:D020389 xref: MIM:PS310300 xref: MONDO:0016830 xref: NCI:C84685 xref: ORDO:261 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11727 name: facioscapulohumeral muscular dystrophy def: "An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420)" [MESH:D020391] synonym: "facioscapulohumeral atrophies" EXACT [] synonym: "facioscapulohumeral atrophy" EXACT [] synonym: "Facio-Scapulo-Humeral Dystrophy" EXACT [] synonym: "facioscapulohumeral muscular dystrophies" EXACT [] synonym: "Facioscapulohumeral Type Progressive Muscular Dystrophy" EXACT [] synonym: "Facioscapuloperoneal Muscular Dystrophy" EXACT [] synonym: "FMD" EXACT [] synonym: "FSHD" EXACT [] synonym: "FSH Muscular Dystrophy" EXACT [] synonym: "Landouzy-Dejerine dystrophies" EXACT [] synonym: "Landouzy Dejerine dystrophy" EXACT [] synonym: "Landouzy-Dejerine muscular dystrophy" EXACT [] xref: EFO:0000491 xref: GARD:9941 xref: ICD10CM:G71.02 xref: MESH:D020391 xref: MIM:PS158900 xref: MONDO:0001347 xref: NCI:C84704 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:11729 name: Lyme disease def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia burgdorferi, which is transmitted_by blacklegged tick (Ixodes scapularis) or transmitted_by western blacklegged tick (Ixodes pacificus). The infection has_symptom fever, has_symptom headache, has_symptom fatigue, and has_symptom skin rash called erythema migrans. If left untreated, infection can spread to joints, the heart, and the nervous system. (DO)" [http://www.cdc.gov/lyme/transmission/index.html "DO"] synonym: "Bannwarth syndrome" EXACT [] synonym: "Bannworth's syndrome" EXACT [] synonym: "Lyme Arthritis" EXACT [] synonym: "Lyme Borreliosis" EXACT [] synonym: "lyme neuroborreliosis" EXACT [] synonym: "neuroborreliosis" EXACT [] synonym: "neurological Lyme disease" EXACT [] xref: EFO:0008510 xref: GARD:12073 xref: ICD10CM:A69.2 xref: ICD9CM:088.81 xref: MESH:D008193 xref: NCI:C45161 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004477 ! Borrelia Infections [Term] id: DOID:11736 name: odontoclasia def: "The active destruction of the deciduous teeth of children by a process that seems to differ from caries. One of its distinguishing features is that the permanent teeth are not affected. B. G. Bibby, Food and the Teeth (1990) 270:61." [] xref: ICD9CM:521.05 xref: RDO:9002438 is_a: DOID:216 ! dental caries created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:11746 name: parametrium malignant neoplasm def: "A uterine adnexa cancer that is located_in the parametrium. (DO)" [https://www.sciencedirect.com/topics/medicine-and-dentistry/parametrium "DO"] xref: ICD10CM:C57.3 xref: ICD9CM:183.4 is_a: DOID:11747 ! uterine adnexa cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:11747 name: uterine adnexa cancer def: "A uterine cancer that is located_in the adnexa. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6043913 "DO"] xref: ICD10CM:C57.4 xref: ICD9CM:183 xref: ICD9CM:183.9 is_a: DOID:363 ! uterine cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:11748 name: round ligament malignant neoplasm def: "A uterine adnexa cancer that is located_in the round ligament. (DO)" [https://pmc.ncbi.nlm.nih.gov/articles/PMC4365377/ "DO"] synonym: "malignant neoplasm of round ligament" EXACT [] synonym: "malignant neoplasm of round ligament of uterus" EXACT [] xref: ICD10CM:C57.2 xref: ICD9CM:183.5 is_a: DOID:11747 ! uterine adnexa cancer created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11750 name: Bordetella parapertussis whooping cough def: "A pertussis that is a milder disease caused by the bacterium Bordetella parapertussis. The disease has_symptom coughing, has_symptom sneezing, or has_symptom runny nose. (DO)" [http://en.wikipedia.org/wiki/Pertussis "DO"] xref: ICD10CM:A37.1 xref: ICD9CM:033.1 is_a: DOID:1116 ! pertussis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:11752 name: acute endophthalmitis xref: ICD9CM:360.01 xref: RDO:9003030 is_a: DOID:9724 ! purulent endophthalmitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11754 name: siderosis of eye def: "An eye degenerative disease that is characterized by intraocular iron toxicity typically due to a retained foreign body. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30787536 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3390063 "DO"] synonym: "siderosis of globe" EXACT [] xref: ICD10CM:H44.32 xref: ICD9CM:360.23 is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11755 name: choledocholithiasis def: "A common bile duct disease characterized by the presence of at least one gallstone in the common bile duct. (DO)" [https://medlineplus.gov/ency/article/000274.htm "DO", https://www.ncbi.nlm.nih.gov/books/NBK441961/ "DO"] synonym: "common bile duct cholelithiasis" EXACT [] xref: EFO:1000865 xref: MESH:D042883 is_a: DOID:10211 ! cholelithiasis is_a: DOID:4137 ! common bile duct disease [Term] id: DOID:11758 name: iron deficiency anemia def: "A microcytic anemia that is characterized by pallor, fatigue, lightheadedness, and weakness and has_material_basis_in low total body iron causing impaired synthesis of red blood cells. (DO)" [https://medlineplus.gov/ency/article/000584.htm "DO", https://www.merckmanuals.com/professional/hematology-and-oncology/anemias-caused-by-deficient-erythropoiesis/iron-deficiency-anemia "DO"] synonym: "iron deficiency anemias" EXACT [] xref: ICD9CM:280.8 xref: MESH:D018798 xref: MONDO:0001356 is_a: DOID:0050642 ! hypochromic microcytic anemia is_a: DOID:2351 ! iron metabolism disease is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:11759 name: hypochromic anemia def: "An anemia that is characterized by a decrease in the ratio of the weight of hemoglobin to the volume of the erythrocyte. As a result, the red cells have an area of central pallor which is increased in size. The leading cause is iron deficiency. (DO)" [https://en.wikipedia.org/wiki/Hypochromic_anemia "DO", MESH:D000747] synonym: "chloroses" EXACT [] synonym: "chlorosis" EXACT [] synonym: "hypochromic anemias" EXACT [] xref: ICD10CM:D50 xref: MESH:D000747 xref: MONDO:0001357 xref: NCI:C34380 is_a: DOID:2355 ! anemia [Term] id: DOID:1176 name: bronchial disease def: "A lower respiratory tract disease that affects the airways leading into the lungs, which is caused due to inflammation of the bronchi and bronchioles, infection, or blockage. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11685087 "DO"] synonym: "bronchial diseases" EXACT [] xref: EFO:1002018 xref: MESH:D001982 is_a: DOID:0050161 ! lower respiratory tract disease [Term] id: DOID:11760 name: Kohler's disease def: "An osteochondrosis that results_in death and collapse located_in navicular bone of foot. (DO)" [http://en.wikipedia.org/wiki/K%C3%B6hler_disease "DO"] synonym: "juvenile osteochondrosis of foot" EXACT [] synonym: "Kohler disease" EXACT [] xref: GARD:6842 xref: ICD9CM:732.5 is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:11766 name: blind hypotensive eye xref: ICD9CM:360.41 xref: RDO:9004882 is_a: DOID:790 ! ocular hypotension created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11771 name: spontaneous ocular nystagmus synonym: "ocular nystagmus" EXACT [] synonym: "searching eye movements" EXACT [] synonym: "visual deprivation nystagmus" EXACT [] xref: ICD10CM:H55.03 xref: ICD9CM:379.53 xref: RDO:9004265 is_a: DOID:9650 ! pathologic nystagmus created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11772 name: leukocoria synonym: "leucocoria" EXACT [] xref: ICD10CM:H44.53 xref: ICD9CM:360.44 is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11776 name: absolute glaucoma def: "A glaucoma that is characterized by a total loss of vision, uncontrolled pressure in the eye, severe pain in the eye, absence of pupillary light reflex, absence of pupillary response, and the eye has a stony appearance. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3669490/ "DO"] synonym: "blind hypertensive eye" EXACT [] xref: ICD9CM:360.42 is_a: DOID:1686 ! glaucoma is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11781 name: regular astigmatism xref: ICD10CM:H52.22 xref: ICD9CM:367.21 is_a: DOID:11782 ! astigmatism created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:11782 name: astigmatism alt_id: MIM:603047 def: "A refractive error characterized by the optics of the eye to focus a point object into a sharp focused image on the retina, has_symptom blurred vision. (DO)" [http://en.wikipedia.org/wiki/Astigmatism_%28eye%29 "DO"] synonym: "corneal astigmatism" NARROW [] xref: EFO:0004222 xref: EFO:1002040 xref: ICD10CM:H52.2 xref: ICD9CM:367.2 xref: MESH:D001251 is_a: DOID:9835 ! refractive error [Term] id: DOID:11783 name: necrosis of ear ossicle synonym: "partial loss or necrosis of ear ossicles" EXACT [] xref: ICD9CM:385.24 is_a: DOID:2742 ! auditory system disease is_a: DOID:5100 ! middle ear disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:11786 name: splenic sequestration xref: ICD9CM:289.52 is_a: DOID:2529 ! splenic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11787 name: chronic congestive splenomegaly xref: ICD10CM:D73.2 xref: ICD9CM:289.51 is_a: DOID:2529 ! splenic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11793 name: phthisical cornea xref: ICD9CM:371.05 is_a: DOID:1237 ! corneal degeneration created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11797 name: chronic laryngitis def: "A laryngitis in which symptoms last longer than three weeks. Gastroesophageal reflux, and lingering bronchitis can cause the disease. (DO)" [http://en.wikipedia.org/wiki/Laryngitis "DO", http://www.merck.com/mmhe/sec19/ch222/ch222d.html#sec19-ch222-ch222d-263 "DO"] xref: ICD10CM:J37.0 xref: ICD9CM:476.0 xref: NCI:C26975 is_a: DOID:3437 ! laryngitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:118 name: pericardial effusion def: "A pericardium disease that is characterized by an abnormal accumulation of fluid in the pericardial cavity. (DO)" [http://en.wikipedia.org/wiki/Pericardial_effusion "DO"] synonym: "chylopericardium" EXACT [] synonym: "chylopericardiums" EXACT [] synonym: "pericardial effusions" EXACT [] xref: MESH:D010490 xref: NCI:C3319 is_a: DOID:0050829 ! pericardium disease [Term] id: DOID:11801 name: protein-energy malnutrition def: "A nutritional deficiency disease that is characterized by inadequate dietary protein and calories, which can have profound systemic effects including decreased metabolism, altered tissue distribution, compromised immunity, and impaired growth, and has_material_basis_in dietary deprivation. (DO)" [https://en.wikipedia.org/wiki/Protein%E2%80%93energy_malnutrition "DO"] synonym: "protein calorie malnutrition" EXACT [] synonym: "protein-energy malnutritions" EXACT [] xref: EFO:0009563 xref: ICD10CM:E46 xref: ICD9CM:263.9 xref: MESH:D011502 xref: NCI:C34952 is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:9004989 ! Protein Deficiency [Term] id: DOID:11809 name: bladder neck cancer synonym: "malignant neoplasm of urinary bladder neck" EXACT [] synonym: "malignant tumor of bladder neck" EXACT [] xref: ICD10CM:C67.5 xref: ICD9CM:188.5 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11811 name: urinary bladder posterior wall cancer synonym: "malignant neoplasm of posterior wall of urinary bladder" EXACT [] xref: ICD10CM:C67.4 xref: ICD9CM:188.4 xref: RDO:9001948 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11812 name: bladder sarcoma def: "A sarcoma and malignant neoplasm of urinary bladder that is located_in the bladder. (DO)" [https://my.clevelandclinic.org/health/diseases/16512-genitourinary-sarcomas "DO"] synonym: "sarcoma of bladder" EXACT [] synonym: "sarcoma of the urinary bladder" EXACT [] xref: NCI:C4669 is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:1115 ! sarcoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11813 name: bladder trigone cancer synonym: "malignant neoplasm of trigone of urinary bladder" EXACT [] synonym: "malignant tumor of trigone of bladder" EXACT [] synonym: "malignant tumor of trigone of urinary bladder" EXACT [] xref: ICD10CM:C67.0 xref: ICD9CM:188.0 xref: RDO:9001950 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11814 name: urinary bladder anterior wall cancer synonym: "malignant neoplasm of anterior wall of urinary bladder" EXACT [] xref: ICD10CM:C67.3 xref: ICD9CM:188.3 xref: RDO:9001951 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11816 name: vitreous syneresis alt_id: RDO:9003048 synonym: "Vitreous degeneration" EXACT [ICD9CM_2006:379.21] xref: ICD10CM:H43.81 xref: ICD9CM:379.21 xref: RDO:9003069 is_a: DOID:9720 ! vitreous disease is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11817 name: urachus cancer synonym: "malignant tumor of urachus" EXACT [] synonym: "urachal cancer" EXACT [] synonym: "Urachal carcinoma" EXACT [] xref: GARD:7836 xref: ICD10CM:C67.7 xref: ICD9CM:188.7 xref: MESH:C536475 is_a: DOID:11054 ! urinary bladder cancer [Term] id: DOID:11818 name: ureteric orifice cancer synonym: "malignant neoplasm of ureteric orifice of urinary bladder" EXACT [] synonym: "malignant tumor of ureteric orifice" EXACT [] synonym: "orifice of the ureter" EXACT [] synonym: "orifice of the ureter cancer" EXACT [] xref: ICD10CM:C67.6 xref: ICD9CM:188.6 xref: NCI:C12337 is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:11819 ! ureter cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11819 name: ureter cancer def: "A urinary system cancer that is located_in the ureter. (DO)" [http://en.wikipedia.org/wiki/Ureter_cancer "DO"] synonym: "cancer of ureter" EXACT [] synonym: "malignant tumour of ureter" EXACT [] synonym: "malignant ureteral tumor" EXACT [] synonym: "ureteral cancer" EXACT [] synonym: "ureteral cancers" EXACT [] synonym: "ureter cancers" EXACT [] xref: EFO:0003844 xref: ICD10CM:C66 xref: ICD9CM:189.2 xref: MIM:191600 xref: NCI:C7543 is_a: DOID:3996 ! urinary system cancer is_a: DOID:9003753 ! Ureteral Neoplasms created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:11820 name: bladder dome cancer synonym: "malignant neoplasm of apex of urinary bladder" EXACT [] synonym: "malignant neoplasm of dome of urinary bladder" EXACT [] synonym: "malignant tumor of vault of bladder" EXACT [] synonym: "Superior Surface of bladder" EXACT [NCI2004_11_17:C12332] synonym: "Superior Surface of bladder cancer" EXACT [] xref: ICD10CM:C67.1 xref: ICD9CM:188.1 xref: NCI:C12332 xref: RDO:9001953 is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11821 name: bladder lymphoma synonym: "Lymphoma of the urinary bladder" EXACT [] xref: NCI:C6164 is_a: DOID:0060058 ! lymphoma is_a: DOID:11054 ! urinary bladder cancer created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:11823 name: hepatorenal syndrome def: "An acute kidney failure that is characterized by severe renal vasoconstriction. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK470565/ "DO"] xref: GARD:6610 xref: ICD10CM:K76.7 xref: ICD9CM:572.4 xref: MESH:D006530 xref: NCI:C113400 is_a: DOID:225 ! syndrome is_a: DOID:3021 ! acute kidney failure is_a: DOID:409 ! liver disease [Term] id: DOID:11824 name: multicentric reticulohistiocytosis def: "A syndrome that is characterized by papulonodular skin lesions containing a proliferation of true macrophages associated with arthritis. (DO)" [http://en.wikipedia.org/wiki/Multicentric_reticulohistiocytosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/23130232 "DO"] synonym: "lipoid dermatoarthritis" EXACT [] xref: GARD:7103 xref: ICD10CM:E78.81 xref: MONDO:0015347 xref: NCI:C27896 xref: ORDO:139436 is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:4330 ! non-Langerhans-cell histiocytosis is_a: DOID:848 ! arthritis created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:11829 name: degenerative myopia def: "Excessive axial myopia associated with complications (especially posterior staphyloma and CHOROIDAL NEOVASCULARIZATION) that can lead to BLINDNESS." [MESH:D047728] synonym: "Degenerative Myopias" EXACT [] synonym: "Pathological Myopia" EXACT [] synonym: "Pathological Myopias" EXACT [] synonym: "progressive high (degenerative) myopia" EXACT [ICD9CM_2006:360.21] synonym: "progressive high myopia" EXACT [MTHICD9_2006:360.21] synonym: "Progressive Myopia" EXACT [] synonym: "Progressive Myopias" EXACT [] xref: EFO:0004207 xref: ICD10CM:H44.2 xref: ICD9CM:360.21 xref: MESH:D047728 xref: NCI:C157149 xref: RDO:0007546 is_a: DOID:11830 ! myopia is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:11830 name: myopia def: "A refractive error characterized by the inability to see farther objects clearly. (DO)" [http://en.wikipedia.org/wiki/Myopia "DO", http://ghr.nlm.nih.gov/glossary=myopia "DO", http://www.mayoclinic.org/diseases-conditions/nearsightedness/basics/definition/con-20027548 "DO"] synonym: "myopias" EXACT [] synonym: "near-sightedness" EXACT [] synonym: "nearsightedness" EXACT [] synonym: "near vision" EXACT [] synonym: "short-sightedness" EXACT [] xref: EFO:0003927 xref: ICD10CM:H52.1 xref: ICD9CM:367.1 xref: MESH:D009216 xref: MIM:PS160700 xref: MONDO:0001384 xref: NCI:C102533 is_a: DOID:9835 ! refractive error [Term] id: DOID:11831 name: cortical blindness def: "Total loss of vision in all or part of the visual field due to bilateral OCCIPITAL LOBE (i.e., VISUAL CORTEX) damage or dysfunction. Anton syndrome is characterized by the psychic denial of true, organic cortical blindness. (Adams et al., Principles of Neurology, 6th ed, p460)" [MESH:D019575] synonym: "Anton's Syndrome" EXACT [] synonym: "Anton Babinski syndrome" EXACT [] synonym: "Antons Syndrome" EXACT [] synonym: "Anton Syndrome" EXACT [] synonym: "Blindness, Cortical, Post-Ictal" EXACT [] synonym: "Blindness, Cortical, Transient" EXACT [] synonym: "Psychic Denial of Blindness" EXACT [] synonym: "Reversible Cortical Blindness" EXACT [] synonym: "Reversible Cortical Blindnesses" EXACT [] synonym: "Transient Anton's Syndrome" EXACT [] synonym: "Transient Antons Syndrome" EXACT [] synonym: "transient Anton syndrome" EXACT [] xref: ICD10CM:H47.61 xref: ICD9CM:377.75 xref: MESH:D019575 xref: NCI:C118707 is_a: DOID:1432 ! blindness is_a: DOID:5691 ! visual cortex disease [Term] id: DOID:11832 name: visual epilepsy def: "Visual seizures mainly present as epileptic auras, but can be simple hallucinations related with an occipital origin, or complex hallucinations associated with more anterior regions of the brain. The appearance of lateralised visual phenomena suggests an origin located in the contralateral hemisphere." [PMID:25760720] synonym: "Childhood occipital visual epilepsy" EXACT [] synonym: "COVE" EXACT [] synonym: "Gastaut syndrome" EXACT [] synonym: "idiopathic childhood occipital epilepsy, Gastaut type" EXACT [] synonym: "late onset benign occipital epilepsy" EXACT [] synonym: "Sensory Seizure" EXACT [] synonym: "Sensory Seizures" EXACT [] synonym: "Somatosensory Seizure" EXACT [] synonym: "somatosensory seizures" EXACT [] synonym: "visual seizure" EXACT [] synonym: "visual seizures" EXACT [] xref: MONDO:0001386 xref: NCI:C3980 is_a: DOID:1826 ! epilepsy is_a: DOID:5691 ! visual cortex disease is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:11836 name: clubfoot alt_id: MIM:119800 def: "A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities. (DO)" [http://en.wikipedia.org/wiki/Club_foot "DO", https://www.ncbi.nlm.nih.gov/pubmed/17610748 "DO"] synonym: "BILATERAL TALIPES EQUINOVARUS" NARROW [] synonym: "CCF" EXACT [] synonym: "clubfeet" EXACT [] synonym: "Congenital Clubfeet" EXACT [] synonym: "Congenital Clubfoot" EXACT [] synonym: "congenital clubfoot with or without deficiency of long bones and/or mirror-image polydactyly" EXACT [] synonym: "Congenital equinovarus" EXACT [MTHICD9_2006:754.51] synonym: "Congenital Talipes Equinovarus" EXACT [] synonym: "Equinovarus" EXACT [] synonym: "Equinovarus deformity of foot" EXACT [SNOMEDCT_2005_07_31:249808002] synonym: "Idiopathic congenital talipes equinovarus" EXACT [] synonym: "pie torcido" EXACT [] synonym: "pie torcidos" EXACT [] synonym: "PITX1-RELATED CONDITION" EXACT [] synonym: "talipes equinovarus" EXACT [] xref: ICD10CM:Q66.0 xref: ICD10CM:Q66.89 xref: ICD9CM:754.51 xref: MESH:D003025 xref: NCI:C188148 xref: NCI:C84641 is_a: DOID:0080006 ! bone development disease is_a: DOID:9007152 ! Talipes [Term] id: DOID:11838 name: penis sarcoma def: "A sarcoma and malignant neoplasm of penis that is located_in the penis. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5020210/ "DO"] synonym: "sarcoma of penis" EXACT [] xref: NCI:C7730 is_a: DOID:1115 ! sarcoma is_a: DOID:11615 ! penile cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:11839 name: glans penis cancer synonym: "malignant neoplasm of glans penis" EXACT [] synonym: "malignant tumor of glans penis" EXACT [] synonym: "malignant tumour of glans penis" EXACT [] xref: ICD10CM:C60.1 xref: ICD9CM:187.2 xref: RDO:9002242 is_a: DOID:11615 ! penile cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:1184 name: nephrotic syndrome def: "A nephrosis characterized by marked increase in glomerular protein permeability resulting in marked elevation of urine protein levels, hypoalbuminemia, hyperlipidemia, and hypercoagulability. (DO)" [https://en.wikipedia.org/wiki/Nephrotic_syndrome "DO", https://www.niddk.nih.gov/health-information/kidney-disease/nephrotic-syndrome-adults "DO"] synonym: "NEPHROTIC RANGE PROTEINURIA" NARROW [] synonym: "Nephrotic Syndromes" EXACT [] xref: EFO:0004255 xref: ICD9CM:581 xref: MESH:D009404 xref: NCI:C34845 is_a: DOID:225 ! syndrome is_a: DOID:2527 ! nephrosis [Term] id: DOID:11840 name: coronary artery vasospasm alt_id: MIM:163729 def: "Spasm of the large- or medium-sized coronary arteries." [MESH:D003329] synonym: "coronary artery spasm" EXACT [] synonym: "Coronary artery spasm 1, susceptibility to" NARROW [] synonym: "Coronary artery spasm 2, susceptibility to" NARROW [] synonym: "Coronary artery spasm 3, susceptibility to" NARROW [] synonym: "Coronary Artery Vasospasms" EXACT [] synonym: "Coronary Vasospasm" EXACT [] synonym: "Coronary Vasospasms" EXACT [] xref: EFO:0004225 xref: MESH:D003329 xref: NCI:C34515 is_a: DOID:3393 ! coronary artery disease is_a: DOID:9000528 ! Coronary Disease [Term] id: DOID:11843 name: coronary artery anomaly synonym: "congenital anomaly of coronary artery" EXACT [] synonym: "congenital coronary artery anomaly" EXACT [] synonym: "coronary artery abnormality" EXACT [] xref: GARD:1534 xref: ICD9CM:746.85 is_a: DOID:3393 ! coronary artery disease created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:11847 name: coronary thrombosis alt_id: RDO:0005278 def: "Coagulation of blood in any of the CORONARY VESSELS. The presence of a blood clot (THROMBUS) often leads to MYOCARDIAL INFARCTION." [MESH:D003328] synonym: "coronary artery thrombosis" EXACT [] synonym: "coronary thromboses" EXACT [] xref: EFO:1000883 xref: ICD10CM:I22 xref: MESH:D003328 is_a: DOID:0060903 ! thrombosis is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:11850 name: transient refractive change xref: ICD9CM:367.81 xref: RDO:9004037 is_a: DOID:9835 ! refractive error created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:11851 name: indeterminate leprosy def: "A leprosy that is an early form of the disease which causes one to a few hypopigmented or erythematous macules. (DO)" [https://rarediseases.org/rare-diseases/leprosy/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3875986/ "DO"] synonym: "uncharacteristic leprosy" EXACT [] xref: ICD10CM:A30.0 xref: ICD9CM:030.2 is_a: DOID:1024 ! leprosy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:11853 name: monocular exotropia xref: ICD10CM:H50.11 xref: ICD9CM:378.11 is_a: DOID:1143 ! exotropia created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11864 name: peripheral focal chorioretinitis xref: ICD9CM:363.04 xref: RDO:9003511 is_a: DOID:1979 ! focal chorioretinitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1187 name: tibial neuropathy def: "Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)" [MESH:D020429] synonym: "internal popliteal neuropathies" EXACT [] synonym: "Internal Popliteal Neuropathy" EXACT [] synonym: "Lateral Plantar Neuropathies" EXACT [] synonym: "Lateral Plantar Neuropathy" EXACT [] synonym: "Medial Plantar Nerve Disease" EXACT [] synonym: "Medial Plantar Neuropathies" EXACT [] synonym: "Medial Plantar Neuropathy" EXACT [] synonym: "Medial Popliteal Neuropathies" EXACT [] synonym: "Medial Popliteal Neuropathy" EXACT [] synonym: "Posterior Tibial Nerve Diseases" EXACT [] synonym: "Posterior Tibial Neuropathies" EXACT [] synonym: "Posterior Tibial Neuropathy" EXACT [] synonym: "Post-Traumatic Tibial Neuropathies" EXACT [] synonym: "Post-Traumatic Tibial Neuropathy" EXACT [] synonym: "Tibial Nerve Disease" EXACT [] synonym: "Tibial Nerve Diseases" EXACT [] synonym: "tibial neuropathies" EXACT [] xref: EFO:1001213 xref: MESH:D020429 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:11870 name: Pick's disease alt_id: MIM:172700 def: "A frontotemporal dementia that is characterized by a spectrum of neuropsychiatric symptoms ranging from those that affect the patient's personality to those that cause a decline in cognitive function. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK562226/ "DO", MESH:D020774] synonym: "circumscribed lobar atrophy of the brain" EXACT [] synonym: "circumscribed lobar brain atrophy" EXACT [] synonym: "dementia in Pick's disease" EXACT [] synonym: "Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions" EXACT [] synonym: "Lobar Atrophies (Brain)" EXACT [] synonym: "Lobar Atrophy (Brain)" EXACT [] synonym: "Lobar Atrophy Of Brain" EXACT [] synonym: "Lobar Atrophy of the Brain" EXACT [] synonym: "Pick Disease" EXACT [] synonym: "Pick Disease Of Brain" EXACT [] synonym: "Pick Disease of the Brain" EXACT [] synonym: "Picks disease" EXACT [] synonym: "Picks disease of brain" EXACT [] xref: EFO:0003096 xref: GARD:7392 xref: ICD10CM:G31.01 xref: ICD9CM:331.11 xref: MESH:D020774 xref: NCI:C85008 is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:11871 name: macular keratitis xref: ICD10CM:H16.11 xref: ICD9CM:370.22 is_a: DOID:4677 ! keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11874 name: abnormal threshold of rods synonym: "abnormal dark adaptation curve" EXACT [ICD9CM_2006:368.63] xref: ICD10CM:H53.61 xref: ICD9CM:368.63 xref: RDO:9003333 is_a: DOID:8499 ! night blindness created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:11875 name: denture stomatitis def: "Inflammation of the mouth due to denture irritation." [MESH:D013282] synonym: "Denture sore mouth" EXACT [MTHICD9_2006:528.9] synonym: "Denture Stomatitides" EXACT [] xref: EFO:1000893 xref: ICD10CM:K12.1 xref: MESH:D013282 xref: RDO:0006625 is_a: DOID:9637 ! stomatitis [Term] id: DOID:1188 name: mononeuropathy def: "A neuropathy that is characterized by damage to a single nerve, which results in loss of movement, sensation, or other function of that nerve. (DO)" [https://medlineplus.gov/ency/article/000780.htm "DO"] synonym: "mononeuropathies" EXACT [] synonym: "mononeuropathy multiplex syndrome" EXACT [] synonym: "mononeuropathy multiplex syndromes" EXACT [] xref: EFO:0009558 xref: ICD10CM:G58.9 xref: MESH:D020422 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:870 ! neuropathy [Term] id: DOID:11885 name: ureteral benign neoplasm synonym: "neoplasm of ureter" EXACT [] synonym: "ureteral tumor" EXACT [] xref: NCI:C3427 is_a: DOID:731 ! urinary system benign neoplasm is_a: DOID:9003753 ! Ureteral Neoplasms created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:11887 name: ureter leiomyoma def: "An ureteral benign neoplasm that derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23894911 "DO"] synonym: "ureteral leiomyoma" EXACT [] xref: NCI:C6161 is_a: DOID:11885 ! ureteral benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:11888 name: schwannoma of ureter synonym: "ureteral schwannoma" EXACT [] xref: NCI:C6162 is_a: DOID:11885 ! ureteral benign neoplasm is_a: DOID:3192 ! neurilemmoma is_a: DOID:956 ! peripheral nerve schwannoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11889 name: female breast nipple and areola cancer def: "A female breast cancer that is located_in the nipple and areola. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22647686 "DO"] synonym: "malignant neoplasm of nipple and areola of female breast" EXACT [] synonym: "malignant neoplasm of nipple or areola of female breast" EXACT [] xref: ICD9CM:174.0 xref: RDO:9001784 is_a: DOID:0050671 ! female breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:119 name: vaginal cancer def: "A female reproductive system cancer that is located_in the vagina. (DO)" [http://www.cancer.gov/dictionary?CdrID=523460 "DO"] synonym: "cancer of the vagina" EXACT [] synonym: "cancer of vagina" EXACT [] synonym: "malignant neoplasm of vagina" EXACT [] synonym: "malignant tumor of vagina" EXACT [] synonym: "malignant vaginal tumor" EXACT [] synonym: "vagina cancer" EXACT [] synonym: "vagina cancers" EXACT [] synonym: "vaginal cancers" EXACT [] xref: GARD:9348 xref: ICD10CM:C52 xref: ICD9CM:184.0 xref: NCI:C3437 xref: NCI:C7410 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:9006698 ! Vaginal Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11905 name: labium majus cancer def: "A vulva cancer that is located_in the labium majus. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16006794/ "DO"] synonym: "malignant neoplasm of labia majora" EXACT [] synonym: "malignant tumor of labia majora" EXACT [] xref: ICD10CM:C51.0 xref: ICD9CM:184.1 xref: NCI:C7638 is_a: DOID:1245 ! vulva cancer is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:11907 name: ecthyma def: "An ulcerative pyoderma usually caused by group A beta-hemolytic streptococcal infection at the site of minor trauma. (Dorland, 27th ed)" [MESH:D004473] synonym: "ecthymas" EXACT [] xref: EFO:1000689 xref: MESH:D004473 is_a: DOID:4223 ! pyoderma is_a: DOID:8504 ! impetigo is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:11914 name: gastroparesis def: "Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS." [MESH:D018589] synonym: "gastric atonia" EXACT [] synonym: "Gastric Stases" EXACT [] synonym: "Gastric Stasis" EXACT [] synonym: "Gastroparalysis" EXACT [MTHICD9_2006:536.3] synonym: "Gastropareses" EXACT [] synonym: "gastroparesis syndrome" EXACT [] xref: EFO:1000948 xref: ICD10CM:K31.84 xref: ICD9CM:536.3 xref: MESH:D018589 xref: NCI:C80512 is_a: DOID:1159 ! functional gastric disease is_a: DOID:76 ! stomach disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:11917 name: tinea cruris def: "A dermatophytosis that results_in fungal skin infection located_in groin, located_in perineum, or located_in perianal region, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching in groin, thigh skin folds, or anus and results_in_formation_of rash which appears as raised red plaques (platelike areas) and scaly patches with sharply defined borders that may blister and ooze. (DO)" [http://en.wikipedia.org/wiki/Tinea_cruris "DO"] synonym: "dermatophytosis of groin & perianal area" EXACT [] synonym: "dermatophytosis of groin and perianal area" EXACT [] synonym: "Dhobie itch" EXACT [] xref: ICD9CM:110.3 xref: MESH:D000084002 xref: NCI:C34535 is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:1192 name: peripheral nervous system neoplasm def: "A nervous system cancer that is located in the peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Peripheral_nervous_system "DO"] synonym: "neoplasm of peripheral nerve" EXACT [] synonym: "peripheral nerve neoplasm" EXACT [] synonym: "peripheral nerve neoplasms" EXACT [] synonym: "Peripheral Nerve Neoplasms, Benign" EXACT [] synonym: "Peripheral Nerve Neoplasms, Malignant" EXACT [] synonym: "Peripheral Nerve Neoplastic Infiltration" EXACT [] synonym: "Peripheral Nerve Tumor" EXACT [] synonym: "Peripheral Nerve Tumors" EXACT [] synonym: "peripheral nervous system benign neoplasms" EXACT [] synonym: "peripheral nervous system malignant neoplasms" EXACT [] synonym: "tumor of PNS" EXACT [] synonym: "tumour of cranial and spinal nerves" EXACT [] xref: EFO:0002431 xref: MESH:D010524 xref: NCI:C3321 xref: NCI:C4972 is_a: DOID:3093 ! nervous system cancer is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9006557 ! Nervous System Neoplasms [Term] id: DOID:11920 name: tracheal cancer def: "A respiratory system cancer that is located_in the trachea. (DO)" [http://en.wikipedia.org/wiki/Lung_cancer "DO"] synonym: "malignant neoplasm of trachea" EXACT [] synonym: "malignant tracheal tumor" EXACT [] synonym: "malignant tumor of trachea" EXACT [] xref: ICD10CM:C33 xref: ICD9CM:162.0 xref: NCI:C9346 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:9003134 ! tracheal neoplasm created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:11934 name: head and neck cancer def: "An organ system cancer that arises in the head or neck region. This region includes the nasal cavity, sinuses, lips, mouth, salivary glands, throat, or larynx. (DO)" [http://apps.who.int/bookorders/anglais/detart1.jsp?sesslan=1&codlan=1&codcol=70&codcch=9 "DO", http://en.wikipedia.org/wiki/Head_and_neck_cancer "DO", http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck "DO", http://www.cancer.gov/dictionary?CdrID=257519 "DO"] synonym: "cancer of head and neck" EXACT [] synonym: "EFO:0006859" EXACT [] synonym: "head/neck neoplasm" EXACT [] synonym: "head and neck malignant neoplasia" EXACT [] synonym: "head and neck neoplasm" EXACT [] synonym: "head and neck tumours" EXACT [] synonym: "tumor of head and neck" EXACT [] xref: EFO:0006859 xref: GARD:12425 xref: NCI:C3077 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9006169 ! Head and Neck Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:11949 name: Creutzfeldt-Jakob disease alt_id: MIM:123400 def: "A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27))" [MESH:D007562] synonym: "CJD" EXACT [] synonym: "Creutzfeldt Jacob Disease" EXACT [] synonym: "Creutzfeldt Jacob syndrome" EXACT [] synonym: "CREUTZFELDT-JAKOB DISEASE, FAMILIAL CREUTZFELDT-JAKOB DISEASE, SPORADIC" NARROW [] synonym: "CREUTZFELDT-JAKOB DISEASE, HEIDENHAIN VARIANT" NARROW [] synonym: "CREUTZFELDT-JAKOB DISEASE, VARIANT" NARROW [] synonym: "Creutzfeldt-Jakob syndrome" EXACT [] synonym: "familial Creutzfeldt Jakob disease" EXACT [] synonym: "familial Creutzfeldt-Jakob diseases" EXACT [] synonym: "New Variant Creutzfeldt Jakob Disease" EXACT [] synonym: "protection against Creutzfeldt-Jakob disease" RELATED [] synonym: "sCJD" NARROW [] synonym: "subacute spongiform encephalopathies" EXACT [] synonym: "subacute spongiform encephalopathy" EXACT [] synonym: "transmissible virus dementia" EXACT [] synonym: "vCJD" NARROW [] synonym: "V CJD (variant Creutzfeldt Jakob disease)" EXACT [] xref: EFO:0004226 xref: GARD:6956 xref: ICD10CM:A81.0 xref: ICD9CM:046.1 xref: MESH:D007562 xref: NCI:C26802 is_a: DOID:1307 ! dementia is_a: DOID:649 ! prion disease [Term] id: DOID:1195 name: ischemic neuropathy synonym: "Ischemic peripheral neuropathy" EXACT [] xref: NCI:C27025 xref: RDO:9002718 is_a: DOID:870 ! neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:11963 name: esophagitis def: "INFLAMMATION, acute or chronic, of the ESOPHAGUS caused by BACTERIA, chemicals, or TRAUMA." [MESH:D004941] synonym: "acute esophagitis" EXACT [] synonym: "esophagitides" EXACT [] xref: ICD10CM:K20 xref: ICD10CM:K20.9 xref: ICD9CM:530.1 xref: MESH:D004941 xref: NCI:C9224 is_a: DOID:2326 ! gastroenteritis is_a: DOID:6050 ! esophageal disease [Term] id: DOID:11968 name: postmenopausal atrophic vaginitis def: "A vaginitis that occurs in postmenopausal women and is characterized by vaginal atrophy secondary to estrogen deficiency. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20003787 "DO"] synonym: "Atrophic Vaginitides" EXACT [] synonym: "Atrophic Vaginitis" EXACT [] synonym: "senile vaginitis" EXACT [] xref: EFO:1001271 xref: ICD10CM:N95.2 xref: ICD9CM:627.3 xref: MESH:D059268 is_a: DOID:2170 ! vaginitis [Term] id: DOID:11971 name: synostosis def: "A dysostosis that results_in abnormal fusing of adjacent bones. (DO)" [http://en.wikipedia.org/wiki/Synostosis "DO", http://medical-dictionary.thefreedictionary.com/synostosis "DO"] synonym: "synostoses" EXACT [] xref: MESH:D013580 is_a: DOID:1934 ! dysostosis is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:11975 name: coloboma of optic nerve alt_id: MIM:120430 synonym: "COLOBOMA OF OPTIC DISC" EXACT [] synonym: "Congenital coloboma of the optic nerve" EXACT [] synonym: "MORNING GLORY DISC ANOMALY" NARROW [] synonym: "Morning glory syndrome" EXACT [] synonym: "Optic nerve coloboma" EXACT [] synonym: "OPTIC NERVE HEAD PITS, BILATERAL CONGENITAL" NARROW [] xref: GARD:13354 xref: GARD:8502 xref: ICD10CM:Q14.2 xref: ICD9CM:377.23 xref: MESH:C535970 is_a: DOID:12270 ! coloboma is_a: DOID:1393 ! visual pathway disease [Term] id: DOID:11976 name: botulism def: "A primary bacterial infectious disease that involves intoxication caused by botulinum neurotoxins (BoNTA, B, E and F) located in neuromuscular junction resulting in descending muscle paralysis, has_material_basis_in Clostridium botulinum A, has_material_basis_in Clostridium botulinum B, has_material_basis_in Clostridium botulinum E and has_material_basis_in Clostridium botulinum F. (DO)" [http://en.wikipedia.org/wiki/Botulism "DO", https://en.wikipedia.org/wiki/Botulism "DO", https://www.cdc.gov/botulism/index.html "DO"] synonym: "botulism poisoning" EXACT [] synonym: "food poisoning due to clostridium botulinum" EXACT [] synonym: "infection due to clostridium botulinum" EXACT [] synonym: "intoxication with clostridium botulinum toxin" EXACT [] synonym: "toxico infectious botulism" EXACT [] xref: EFO:0005542 xref: GARD:943 xref: ICD10CM:A05.1 xref: MESH:D001906 xref: NCI:C84599 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:3602 ! toxic encephalopathy is_a: DOID:439 ! neuromuscular junction disease is_a: DOID:9006436 ! Foodborne Diseases is_a: DOID:9006732 ! Clostridium Infections [Term] id: DOID:11981 name: morbid obesity def: "The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2." [MESH:D009767] synonym: "morbid obesities" EXACT [] synonym: "severe obesities" EXACT [] synonym: "severe obesity" EXACT [] xref: EFO:0001074 xref: ICD9CM:278.01 xref: MESH:D009767 xref: NCI:C34858 is_a: DOID:9970 ! obesity [Term] id: DOID:11983 name: Prader-Willi syndrome alt_id: MIM:176270 def: "A chromosomal disease that is characterized by weak muscle tone, feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating and obesity. (DO)" [https://ghr.nlm.nih.gov/condition/prader-willi-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1330/ "DO"] synonym: "Labhart Willi Prader Fanconi syndrome" EXACT [] synonym: "Labhart Willi Syndrome" EXACT [] synonym: "Prader Labhart Willi Syndrome" EXACT [] synonym: "PRADER-WILLI-LIKE SYNDROME ASSOCIATED WITH CHROMOSOME 6" NARROW [] synonym: "PRADER-WILLI SYNDROME CHROMOSOME REGION" NARROW [] synonym: "PWCR" NARROW [] synonym: "PWS" EXACT [] synonym: "Royer's Syndrome" EXACT [] synonym: "Royers Syndrome" EXACT [] synonym: "Royer syndrome" EXACT [] xref: GARD:5575 xref: ICD10CM:Q87.11 xref: ICD9CM:759.81 xref: MESH:D011218 xref: NCI:C75463 xref: ORDO:739 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9970 ! obesity [Term] id: DOID:11984 name: hypertrophic cardiomyopathy def: "An intrinsic cardiomyopathy that is characterized by abnormal thickening (hypertrophy) of the heart without any obvious cause. (DO)" [http://en.wikipedia.org/wiki/Hypertrophic_cardiomyopathy "DO", http://www.mayoclinic.org/diseases-conditions/hypertrophic-cardiomyopathy/basics/definition/con-20030747 "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cm/ "DO"] synonym: "CONCENTRIC HYPERTROPHIC CARDIOMYOPATHY" NARROW [] synonym: "hypertrophic cardiomyopathies" EXACT [] synonym: "hypertrophic obstructive cardiomyopathies" EXACT [] synonym: "hypertrophic obstructive cardiomyopathy" EXACT [] xref: EFO:0000538 xref: ICD9CM:425.1 xref: MESH:D002312 xref: NCI:C34449 xref: ORDO:217568 is_a: DOID:0060036 ! intrinsic cardiomyopathy is_a: DOID:5805 ! subvalvular aortic stenosis [Term] id: DOID:11988 name: conjunctival concretion xref: ICD10CM:H11.12 xref: ICD9CM:372.54 xref: RDO:9003827 is_a: DOID:11653 ! conjunctival deposit created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11990 name: ulceroglandular tularemia def: "A tularemia that results_in painful regional lymphadenopathy and an ulcerated skin lesion. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"] xref: ICD10CM:A21.0 xref: ICD9CM:021.0 is_a: DOID:2123 ! tularemia is_a: DOID:75 ! lymphatic system disease is_a: DOID:9003209 ! Bacterial Skin Diseases created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:11991 name: Osteopoikilosis def: "An osteosclerosis that results_in numerous bone islands located_in skeleton. (DO)" [http://en.wikipedia.org/wiki/Osteopoikilosis "DO"] synonym: "osteopoikiloses" EXACT [] xref: GARD:4158 xref: ICD10CM:Q78.8 xref: ICD9CM:756.53 xref: MESH:D010023 xref: NCI:C84985 is_a: DOID:4254 ! osteosclerosis is_a: DOID:65 ! connective tissue disease [Term] id: DOID:11994 name: atrophy of testis xref: ICD10CM:N50.0 xref: ICD9CM:608.3 xref: NCI:C123259 is_a: DOID:2519 ! testicular disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:11996 name: spermatic cord torsion alt_id: MIM:187400 alt_id: RDO:0006594 def: "The twisting of the SPERMATIC CORD due to an anatomical abnormality that left the TESTIS mobile and dangling in the SCROTUM. The initial effect of testicular torsion is obstruction of venous return. Depending on the duration and degree of cord rotation, testicular symptoms range from EDEMA to interrupted arterial flow and testicular pain. If blood flow to testis is absent for 4 to 6 h, SPERMATOGENESIS may be permanently lost." [MESH:D013086] synonym: "spermatic cord torsions" EXACT [] synonym: "testicular torsion" EXACT [] synonym: "testicular torsions" EXACT [] synonym: "torsion of testicle" EXACT [] synonym: "torsion of testicular cord" EXACT [] synonym: "torsion of testis" EXACT [] xref: ICD10CM:N44.0 xref: ICD10CM:N44.00 xref: ICD10CM:N44.02 xref: ICD9CM:608.2 xref: MESH:D013086 xref: NCI:C26885 is_a: DOID:2519 ! testicular disease is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:11997 name: spermatocele def: "A cystic dilation of the EPIDIDYMIS, usually in the head portion (caput epididymis). The cyst fluid contains dead SPERMATOZOA and can be easily differentiated from TESTICULAR HYDROCELE and other testicular lesions." [MESH:D013088] synonym: "Epididymal Cyst" EXACT [] synonym: "Epididymal Cysts" EXACT [] synonym: "Spermatoceles" EXACT [] xref: EFO:1001189 xref: ICD10CM:N43.4 xref: ICD10CM:N43.40 xref: ICD10CM:N50.3 xref: ICD9CM:608.1 xref: MESH:D013088 xref: NCI:C120909 xref: NCI:C3865 is_a: DOID:48 ! male reproductive system disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:120 name: female reproductive organ cancer def: "A reproductive organ cancer that is manifested in the female genitals. This includes organs such as the ovaries, fallopian tubes, uterus, cervix, vagina and vulva. (DO)" [http://en.wikipedia.org/wiki/Template\:Female_genital_neoplasia "DO", http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm "DO"] synonym: "EFO:1001331" EXACT [] synonym: "female reproductive cancer" EXACT [] synonym: "malignant Gynecologic tumor" EXACT [NCI2004_11_17:C4913] synonym: "malignant neoplasm of female genital organ" EXACT [] xref: EFO:1001331 xref: ICD10CM:C57 xref: ICD9CM:184 xref: NCI:C3053 xref: NCI:C4913 is_a: DOID:193 ! reproductive organ cancer is_a: DOID:9007399 ! Female Genital Neoplasms [Term] id: DOID:12001 name: tracheal lymphoma synonym: "lymphoma of the trachea" EXACT [] synonym: "lymphoma of trachea" EXACT [] xref: NCI:C6248 is_a: DOID:0060058 ! lymphoma is_a: DOID:11920 ! tracheal cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12002 name: trachea sarcoma def: "A sarcoma and malignant tumor of trachea that is located_in the trachea. (DO)" [http://en.wikipedia.org/wiki/Lung_cancer "DO"] synonym: "sarcoma of the trachea" EXACT [] xref: NCI:C6050 is_a: DOID:1115 ! sarcoma is_a: DOID:11920 ! tracheal cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:12003 name: trachea squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the trachea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26066883 "DO"] synonym: "EFO:1000600" EXACT [] synonym: "squamous cell carcinoma of trachea" RELATED [] synonym: "Tracheal Epidermoid carcinoma" EXACT [NCI2004_11_17:C4448] xref: EFO:1000600 xref: NCI:C4448 xref: RDO:9002271 is_a: DOID:4876 ! trachea carcinoma is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:1201 name: trigeminal nerve neoplasm synonym: "neoplasm of trigeminal nerve" EXACT [] synonym: "tumor of trigeminal nerve" EXACT [] xref: NCI:C5122 is_a: DOID:2815 ! cranial nerve malignant neoplasm is_a: DOID:561 ! trigeminal nerve disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12010 name: anterior ischemic optic neuropathy def: "Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)" [MESH:D018917] synonym: "ischemic optic neuropathies" EXACT [] synonym: "ischemic optic neuropathy" EXACT [] synonym: "Optic Nerve Ischemia" EXACT [] synonym: "Optic Nerve Ischemias" EXACT [] synonym: "posterior ischemic optic neuropathy" EXACT [] xref: EFO:1000809 xref: GARD:9790 xref: ICD10CM:H47.01 xref: ICD9CM:377.41 xref: MESH:D018917 is_a: DOID:178 ! vascular disease is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:12016 name: frontal lobe neoplasm synonym: "malignant neoplasm of frontal lobe" EXACT [] synonym: "neoplasm of frontal lobe" EXACT [] synonym: "tumor of frontal lobe" EXACT [] xref: ICD10CM:C71.1 xref: ICD9CM:191.1 xref: NCI:C5572 xref: RDO:9004697 is_a: DOID:368 ! cerebrum cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:12028 name: Conn's syndrome def: "An adrenal adenoma characterized by the over production of aldosterone. (DO)" [http://en.wikipedia.org/wiki/Conn%27s_syndrome "DO"] synonym: "Conn syndrome" EXACT [] xref: GARD:7456 xref: ICD10CM:E26.01 xref: ICD9CM:255.12 xref: NCI:C34510 is_a: DOID:225 ! syndrome is_a: DOID:446 ! primary hyperaldosteronism is_a: DOID:656 ! adrenal adenoma created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12029 name: sympathetic ophthalmia def: "A panuveitis that is characterized by bilateral diffuse intraocular inflammation following penetrating trauma to an eye, has_symptom blurry vision, watering, pain, and photophobia. (DO)" [http://eyewiki.aao.org/Sympathetic_Ophthalmia "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3277011/ "DO"] synonym: "sympathetic ophthalmias" EXACT [] synonym: "sympathetic uveitides" EXACT [] synonym: "sympathetic uveitis" EXACT [] xref: EFO:1001205 xref: ICD10CM:H44.13 xref: ICD9CM:360.11 xref: MESH:D009879 is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat is_a: DOID:12030 ! panuveitis [Term] id: DOID:1203 name: drug-induced mental disorder xref: ICD9CM:292.8 xref: RDO:9003368 is_a: DOID:8646 ! substance-induced psychosis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12030 name: panuveitis def: "An uveitis that is characterized by inflammation of all layers of the uvea (middle layer) of the eye, which includes the iris, ciliary body, and choroid. (DO)" [https://rarediseases.info.nih.gov/diseases/8577/panuveitis "DO"] synonym: "diffuse uveitis" EXACT [] xref: EFO:1001082 xref: GARD:8577 xref: ICD10CM:H44.11 xref: ICD9CM:360.12 xref: MESH:D015864 xref: NCI:C84989 is_a: DOID:13141 ! uveitis [Term] id: DOID:12043 name: kernicterus due to isoimmunization xref: EFO:1000721 xref: ICD10CM:P57.0 xref: ICD9CM:773.4 xref: NCI:C101270 is_a: DOID:11244 ! neonatal anemia is_a: DOID:2382 ! kernicterus is_a: DOID:2383 ! neonatal jaundice created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1205 name: allergic disease def: "An immune system disease that is an exaggerated immune response to allergens, such as insect venom, dust mites, pollen, pet dander, drugs or some foods. (DO)" [http://en.wikipedia.org/wiki/Allergy "DO"] synonym: "allergic hypersensitivity disease" EXACT [] synonym: "allergic reaction" EXACT [] synonym: "allergic reactions" EXACT [] synonym: "allergies" EXACT [] synonym: "allergy" EXACT [] synonym: "eye allergy" RELATED [] synonym: "hypersensitivities" EXACT [] synonym: "hypersensitivity" EXACT [] synonym: "hypersensitivity reaction type I disease" EXACT [] xref: EFO:0003785 xref: EFO:0005751 xref: ICD10CM:T78.40 xref: MESH:D006967 xref: MONDO:0005271 xref: NCI:C3114 is_a: DOID:2914 ! immune system disease [Term] id: DOID:12053 name: cryptococcosis def: "An opportunistic mycosis that results_in fungal infection and has_material_basis_in Cryptococcus neoformans or Cryptococcus gattii. (DO)" [http://en.wikipedia.org/wiki/Cryptococcosis "DO"] synonym: "Busse-Buschke's disease" EXACT [] synonym: "cryptococcal infection" EXACT [] synonym: "cryptococcoses" EXACT [] synonym: "cryptococcus neoformans infection" RELATED [] synonym: "European cryptococcosis" EXACT [] synonym: "torula" EXACT [] synonym: "Toruloses" EXACT [] synonym: "torulosis" EXACT [] xref: EFO:0007229 xref: GARD:6218 xref: ICD10CM:B45 xref: ICD9CM:117.5 xref: MESH:D003453 xref: NCI:C2967 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:12055 name: sarcoid meningitis synonym: "meningitis in sarcoidosis" EXACT [] xref: ICD10CM:D86.81 xref: ICD9CM:321.4 is_a: DOID:13403 ! neurosarcoidosis is_a: DOID:9471 ! meningitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1206 name: Rett syndrome alt_id: MIM:312750 def: "A pervasive developmental disease that is characterized by normal early growth and development followed by a slowing of development, loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, problems with walking, seizures, and intellectual disability. (DO)" [http://www.nichd.nih.gov/health/topics/rett_syndrome.cfm "DO", http://www.ninds.nih.gov/disorders/rett/detail_rett.htm "DO", https://medlineplus.gov/ency/article/001536.htm "DO"] synonym: "autism, dementia, ataxia, and loss of purposeful hand use" EXACT [] synonym: "autism, dementia, ataxia, loss of purposeful hand use syndrome" EXACT [] synonym: "cerebroatrophic hyperammonemia" EXACT [] synonym: "cerebroatrophic hyperammonemias" EXACT [] synonym: "Rett's disorder" EXACT [] synonym: "Rett's syndrome" EXACT [] synonym: "Rett disorder" EXACT [] synonym: "Retts syndrome" EXACT [] synonym: "RTS" EXACT [] synonym: "RTT" EXACT [] xref: EFO:0001079 xref: GARD:5696 xref: ICD10CM:F84.2 xref: MESH:D015518 xref: MONDO:0010726 xref: NCI:C75488 is_a: DOID:0060040 ! pervasive developmental disorder is_a: DOID:225 ! syndrome is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:12064 name: mediastinum neurofibroma synonym: "neurofibroma of mediastinum" EXACT [] xref: NCI:C6631 xref: RDO:9004344 is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:12070 name: Dieulafoy lesion synonym: "Dieulafoy lesion (hemorrhagic) of intestine" EXACT [] synonym: "Dieulafoy lesion (hemorrhagic) of stomach and duodenum" EXACT [] xref: GARD:10930 xref: ICD10CM:K31.82 xref: ICD9CM:537.84 is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12072 name: pylorospasm xref: ICD9CM:537.81 xref: RDO:9003451 is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12084 name: transient arthropathy synonym: "Transient arthropathy involving forearm" NARROW [] synonym: "Transient arthropathy involving hand" NARROW [] synonym: "Transient arthropathy involving lower leg" NARROW [] synonym: "Transient arthropathy involving multiple sites" NARROW [] synonym: "Transient arthropathy involving pelvic region and thigh" NARROW [] synonym: "Transient arthropathy involving shoulder region" NARROW [] synonym: "Transient arthropathy involving upper arm" NARROW [] xref: ICD9CM:716.41 is_a: DOID:2092 ! transient arthritis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12087 name: deep corneal vascularisation synonym: "deep vascularization of cornea" EXACT [] xref: ICD10CM:H16.44 xref: ICD9CM:370.63 xref: RDO:9004126 is_a: DOID:11382 ! corneal neovascularization created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1209 name: nutritional optic neuropathy def: "An optic neuritis that is characterized by nutritional deficiency causing optic nerve dysfunction, has_symptom painless bilateral progressive decrease in visual acuity and color perception, and has_material_basis_in nuritional deficits, especially of folate and vitamin B, which can be associated with restrictive diets and alcohol abuse. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25345287 "DO"] xref: ICD10CM:H46.2 xref: ICD9CM:377.33 is_a: DOID:1210 ! optic neuritis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12096 name: sodoku disease def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Spirillum minus, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom relapsing fever, has_symptom rash and has_symptom joint pain. (DO)" [http://en.wikipedia.org/wiki/Rat_bite_fever "DO", http://protmed.uoradea.ro/facultate/anale/protectia_mediului/2009/miscellaneous/06.Indries%20Mirela%202.pdf "DO"] synonym: "rat-bite fever" EXACT [] synonym: "ratbite fever" EXACT [] synonym: "rat-bite fevers" EXACT [] synonym: "ratbite fevers" EXACT [] synonym: "sodoku" EXACT [] synonym: "spirillary fever" EXACT [] synonym: "spirillosis" EXACT [] xref: EFO:1001144 xref: ICD10CM:A25.0 xref: ICD9CM:026.0 xref: MESH:D011906 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:12098 name: trigeminal neuralgia alt_id: MIM:190400 def: "A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)" [MESH:D014277] synonym: "epileptiform neuralgia" EXACT [] synonym: "epileptiform neuralgias" EXACT [] synonym: "Fothergill disease" EXACT [] synonym: "Idiopathic Trigeminal Neuralgia" EXACT [] synonym: "idiopathic trigeminal neuralgias" EXACT [] synonym: "Secondary Trigeminal Neuralgia" EXACT [] synonym: "Secondary Trigeminal Neuralgias" EXACT [] synonym: "Tic Douloureux" EXACT [] synonym: "trifacial neuralgia" EXACT [] synonym: "trifacial neuralgias" EXACT [] synonym: "trifocal neuralgia" EXACT [] synonym: "trigeminal neuralgias" EXACT [] xref: EFO:1001219 xref: GARD:7805 xref: ICD10CM:G50.0 xref: ICD9CM:350.1 xref: MESH:D014277 is_a: DOID:225 ! syndrome is_a: DOID:561 ! trigeminal nerve disease [Term] id: DOID:121 name: vaginal disease def: "A female reproductive system disease that is located_in the vagina. (DO)" [https://en.wikipedia.org/wiki/Vaginal_disease "DO"] synonym: "vaginal diseases" EXACT [] xref: MESH:D014623 xref: NCI:C26910 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:1210 name: optic neuritis def: "An optic nerve disease that results_in inflammation located_in optic nerve which may cause a complete or partial loss of vision. (DO)" [https://www.mayoclinic.org/diseases-conditions/optic-neuritis/symptoms-causes/syc-20354953 "DO"] synonym: "anterior optic neuritides" EXACT [] synonym: "anterior optic neuritis" EXACT [] synonym: "neuropapillitides" EXACT [] synonym: "neuropapillitis" EXACT [] synonym: "optic neuritides" EXACT [] synonym: "posterior optic neuritides" EXACT [] synonym: "posterior optic neuritis" EXACT [] xref: EFO:0007405 xref: GARD:7320 xref: ICD10CM:H46 xref: ICD9CM:377.3 xref: MESH:D009902 xref: NCI:C84950 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:12105 name: inflammatory spondylopathy synonym: "inflammatory spondylopathies in disease classified elsewhere" EXACT [] synonym: "inflammatory spondylopathies in disease EC" EXACT [] synonym: "inflammatory spondylopathy in disease classified elsewhere" EXACT [] xref: ICD9CM:720.81 is_a: DOID:6590 ! spondylitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12108 name: bullous retinoschisis xref: ICD9CM:361.12 is_a: DOID:8465 ! retinoschisis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12117 name: pulmonary alveolar microlithiasis alt_id: MIM:265100 def: "A lung disease that is characterized the accumulation of tiny fragments of calcium phosphate gradually accumulate in the alveoli of the lungs. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27514591/ "DO"] xref: GARD:11894 xref: ICD10CM:J84.02 xref: ICD9CM:516.2 xref: MESH:C562405 is_a: DOID:182 ! calcinosis is_a: DOID:850 ! lung disease [Term] id: DOID:12118 name: pulmonary hemosiderosis alt_id: MIM:235500 def: "A lung disease with an unknown etiology affecting the lungs which results in bleeding from tiny alveolar capillaries. Examination of sputum and bronchoalveolar lavage fluid can disclose hemosiderin-laden alveolar macrophages (siderophages), and the lung biopsy shows numerous siderophages in the alveoli. Alveolar hemorrhage is characterized by hemoptysis, shortness of breath, alveolar infiltrates on chest radiograph, and various degrees of anaemia. Following a bleeding episode, the alveolar macrophages convert the hemoglobin's iron into hemosiderin within 36-72h. (DO)" [http://en.wikipedia.org/wiki/Brown_induration "DO", http://en.wikipedia.org/wiki/Idiopathic_pulmonary_haemosiderosis "DO", https://erj.ersjournals.com/content/24/1/162.full "DO"] synonym: "alveolar hypoventilation syndrome" EXACT [] synonym: "brown induration" EXACT [] synonym: "brown lung" EXACT [] synonym: "idiopathic pulmonary hemosiderosis" EXACT [] synonym: "pulmonary hemosiderosis with deficiency of gamma-a globulin" EXACT [] xref: ICD10CM:J84.03 xref: ICD9CM:516.1 xref: MIM:178550 xref: ORDO:99931 is_a: DOID:12119 ! hemosiderosis is_a: DOID:850 ! lung disease [Term] id: DOID:12119 name: hemosiderosis def: "An iron metabolism disease that has_material_basis_in an accumulation of hemosiderin, an iron-storage complex, resulting in iron overload. (DO)" [http://en.wikipedia.org/wiki/Hemosiderosis "DO"] synonym: "haemosiderosis" EXACT [] synonym: "hemosideroses" EXACT [] xref: GARD:6595 xref: MESH:D006486 xref: NCI:C82892 is_a: DOID:9005725 ! Iron Overload [Term] id: DOID:12120 name: pulmonary alveolar proteinosis def: "A lung disease that is characterized by abnormal accumulation of surfactant occurs within the alveoli, interfering with gas exchange. (DO)" [http://en.wikipedia.org/wiki/Pulmonary_alveolar_proteinosis "DO"] synonym: "Pulmonary Alveolar Proteinoses" EXACT [] xref: ICD10CM:J84.01 xref: ICD9CM:516.0 xref: MESH:D011649 xref: MIM:PS265120 xref: MONDO:0001437 xref: NCI:C85037 xref: ORDO:264675 is_a: DOID:850 ! lung disease [Term] id: DOID:12123 name: postinflammatory pulmonary fibrosis synonym: "post-inflammatory pulmonary fibrosis" EXACT [] xref: ICD10CM:J84.10 xref: ICD9CM:515 is_a: DOID:3770 ! pulmonary fibrosis created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:12124 name: episcleritis periodica fugax def: "A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate. (DO)" [https://eyewiki.aao.org/Episcleritis "DO"] xref: ICD10CM:H15.11 xref: ICD9CM:379.01 is_a: DOID:11343 ! scleral disease [Term] id: DOID:12125 name: neurotrophic keratoconjunctivitis def: "A degenerative disease of the corneal epithelium resulting from impaired corneal innervation. " [] xref: ICD10CM:H16.23 xref: ICD9CM:370.35 xref: RDO:9003229 is_a: DOID:9368 ! keratoconjunctivitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12128 name: pica disease def: "An eating disorder that is characterized by an appetite for non-nutritive substances or food ingredients. (DO)" [http://en.wikipedia.org/wiki/Pica_%28disorder%29 "DO"] synonym: "allotriophagy" EXACT [] synonym: "geophagia" EXACT [] synonym: "pica" EXACT [] xref: ICD9CM:307.52 xref: MESH:D010842 xref: NCI:C92566 is_a: DOID:8670 ! eating disorder is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:12129 name: bulimia nervosa alt_id: MIM:607499 def: "An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. (DO)" [http://en.wikipedia.org/wiki/Bulimia_nervosa "DO"] synonym: "BN" EXACT [] synonym: "BULIMIA NERVOSA, AGE OF ONSET OF WEIGHT LOSS IN" RELATED [] synonym: "BULIMIA NERVOSA, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "BULN1" NARROW [] synonym: "hyperorexia nervosa" EXACT [] xref: EFO:0005204 xref: ICD10CM:F50.2 xref: MESH:D052018 is_a: DOID:8670 ! eating disorder is_a: DOID:9004099 ! Bulimia [Term] id: DOID:12132 name: granulomatosis with polyangiitis alt_id: MIM:608710 def: "An autoimmune disease that is characterized by necrotizing granulomatous inflammation of the upper and lower respiratory tract, glomerulonephritis, vasculitis, and the presence of antineutrophil cytoplasmatic autoantibodies (ANCAs) in patient sera, and is located_in lung, located_in kidney, located_in skin resulting from an autoimmune attack by antineutrophil cytoplasmic antibodies against small and medium-size blood vessels. (DO)" [https://en.wikipedia.org/wiki/Granulomatosis_with_polyangiitis "DO"] synonym: "granulomatosis with polyangiitides" EXACT [] synonym: "necrotizing respiratory granulomatosis" EXACT [] synonym: "Wegener's granulomatosis" EXACT [] synonym: "Wegener's syndrome" EXACT [] synonym: "Wegener granulomatosis" EXACT [] synonym: "Wegener granulomatosis, formerly" EXACT [] synonym: "WG" EXACT [] xref: EFO:0005297 xref: GARD:7880 xref: ICD10CM:M31.3 xref: ICD9CM:446.4 xref: MESH:D014890 xref: NCI:C3444 is_a: DOID:0060050 ! autoimmune disease of blood is_a: DOID:3082 ! interstitial lung disease is_a: DOID:37 ! skin disease is_a: DOID:557 ! kidney disease is_a: DOID:9003819 ! Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis [Term] id: DOID:12134 name: factor VIII deficiency alt_id: MIM:306700 alt_id: OMIA:000437 def: "A blood coagulation disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. (DO)" [http://en.wikipedia.org/wiki/Hemophilia_A "DO"] synonym: "classic hemophilia" EXACT [] synonym: "classic hemophilia A" EXACT [] synonym: "classic hemophilias" EXACT [] synonym: "congenital factor 8 deficiency" EXACT [] synonym: "congenital factor VIII deficiency" EXACT [] synonym: "congenital factor VIII disorder" EXACT [] synonym: "Congenital Hemophilia A" EXACT [] synonym: "F8-RELATED CONDITION" BROAD [] synonym: "factor VIII (Okayama)" RELATED [] synonym: "haemophilia" EXACT [] synonym: "haemophilia A" EXACT [] synonym: "HEMA" EXACT [] synonym: "hemophilia" EXACT [] synonym: "hemophilia A" EXACT [] synonym: "hemophilia A, FVIII deficiency" EXACT [] synonym: "subhemophilia" EXACT [] xref: EFO:0007267 xref: GARD:6591 xref: ICD10CM:D66 xref: ICD9CM:286.0 xref: MESH:D006467 xref: MONDO:0010602 xref: NCI:C27146 xref: NCI:C3093 xref: ORDO:98878 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:12139 name: dysthymic disorder def: "A mood disorder that involves the presence of a low mood almost daily over a span of at least two years. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"] synonym: "dysthymia" EXACT [] synonym: "dysthymic disorders" EXACT [] xref: EFO:0008623 xref: ICD9CM:300.4 xref: MESH:D019263 xref: MONDO:0001442 xref: NCI:C34562 is_a: DOID:3324 ! mood disorder [Term] id: DOID:1214 name: tympanosclerosis alt_id: MESH:D063371 def: "The formation of dense connective tissue in the TYMPANIC MEMBRANE that does not necessarily cause or lead to loss of hearing." [MESH:D063371] synonym: "intratympanic tympanosclerosis" EXACT [] synonym: "myringoscleroses" EXACT [] synonym: "myringosclerosis" EXACT [] synonym: "tympanic calcification" EXACT [] synonym: "tympanoscleroses" EXACT [] xref: EFO:1001812 xref: ICD9CM:385.09 xref: MESH:D000092163 is_a: DOID:2742 ! auditory system disease is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:12140 name: Chagas disease def: "A trypanosomiasis that is a tropical parasitic disease caused by the flagellate protozoan Trypanosoma cruzi, which is transmitted to humans and other mammals by an insect vector, the blood-sucking assassin bugs of the subfamily Triatominae (family Reduviidae), most commonly species belonging to the Triatoma, Rhodnius, and Panstrongylus genera. The symptoms include fever, fatigue, body aches, headache, rash, loss of appetite, diarrhea, vomiting, swelling of the eyelids and myocarditis. (DO)" [http://en.wikipedia.org/wiki/Chagas_disease "DO"] synonym: "American trypanosomiasis" EXACT [] synonym: "Chagas' disease with digestive system involvement" EXACT [] synonym: "Chagas' disease with nervous system involvement" EXACT [] synonym: "Chagas' disease with other organ involvement" EXACT [] synonym: "South American trypanosomiasis" EXACT [] xref: EFO:0008559 xref: GARD:6030 xref: ICD9CM:086.2 xref: MESH:D014355 xref: ORDO:3386 is_a: DOID:10113 ! trypanosomiasis [Term] id: DOID:12143 name: neurogenic bladder def: "Dysfunction of the URINARY BLADDER due to disease of the central or peripheral nervous system pathways involved in the control of URINATION. This is often associated with SPINAL CORD DISEASES, but may also be caused by BRAIN DISEASES or PERIPHERAL NERVE DISEASES." [MESH:D001750] synonym: "Atonic Neurogenic Bladder" EXACT [] synonym: "Bladder Neurogenesis" EXACT [] synonym: "Neurogenic Bladder Disorder" EXACT [] synonym: "neurogenic bladder disorders" EXACT [] synonym: "Neurogenic Dysfunction of the Urinary Bladder" EXACT [] synonym: "neurogenic urinary bladder" EXACT [] synonym: "Neurogenic Urinary Bladder, Atonic" EXACT [] synonym: "Neurogenic Urinary Bladder Disorder" EXACT [] synonym: "Neurogenic Urinary Bladder, Spastic" EXACT [] synonym: "Neurogenic Urinary Bladder, Uninhibited" EXACT [] synonym: "Neuropathic Bladder" EXACT [] synonym: "Spastic Neurogenic Bladder" EXACT [] synonym: "Uninhibited Neurogenic Bladder" EXACT [] synonym: "Urinary Bladder Neurogenesis" EXACT [] synonym: "urinary bladder neurogenic dysfunction" EXACT [] xref: ICD9CM:596.54 xref: MESH:D001750 xref: NCI:C79696 is_a: DOID:365 ! bladder disease is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:12144 name: low compliance bladder synonym: "hyperactivity of bladder" EXACT [MTHICD9_2006:596.51] synonym: "hypertonic bladder" EXACT [SNOMEDCT_2005_07_31:314717001] synonym: "hypertonicity of bladder" EXACT [ICD9CM_2006:596.51] xref: ICD9CM:596.52 xref: RDO:9003064 is_a: DOID:365 ! bladder disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12145 name: detrusor sphincter dyssynergia xref: ICD9CM:596.55 xref: RDO:9003072 is_a: DOID:365 ! bladder disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12148 name: alveolar echinococcosis def: "An echinococcosis that is caused by the larvae of Echinococcus multilocularis affecting the liver as a slow growing, destructive tumor, with abdominal pain, biliary obstruction, and occasionally metastatic lesions into the lungs and brain. (DO)" [http://en.wikipedia.org/wiki/Echinococcosis "DO"] synonym: "alveolococcosis" EXACT [] synonym: "echinococcus multilocularis infection" RELATED [] synonym: "multilocular hydatid" EXACT [] synonym: "small fox tapeworm" EXACT [] xref: GARD:207 xref: ICD10CM:B67.7 xref: ICD9CM:122.7 xref: MESH:C536591 is_a: DOID:1496 ! echinococcosis is_a: DOID:409 ! liver disease is_a: DOID:850 ! lung disease is_a: DOID:9006925 ! Hepatic Echinococcosis is_a: DOID:936 ! brain disease [Term] id: DOID:12155 name: lymphocytic choriomeningitis def: "A viral infectious disease that results in infection located in brain, or located in meninges, or located in brain and meninges, has_material_basis_in Mammarenavirus choriomeningitidis, which is transmitted by common house mouse, Mus musculus. The infection has symptom fever, has symptom lack of appetite, has symptom headache, has symptom muscle aches, has symptom malaise, has symptom nausea, and has symptom vomiting. (DO)" [http://en.wikipedia.org/wiki/Lymphocytic_choriomeningitis "DO"] synonym: "Armstrong's Syndrome" EXACT [] synonym: "Armstrong Syndrome" EXACT [] synonym: "LCM" EXACT [] synonym: "Lymphocytic Choriomeningitis Virus Encephalomyelitis" EXACT [] synonym: "lymphocytic meningitis" EXACT [] synonym: "lymphocytic meningoencephalitis" EXACT [] xref: ICD10CM:A87.2 xref: MESH:D008216 xref: NCI:C174114 is_a: DOID:10310 ! viral meningitis is_a: DOID:3944 ! Arenaviridae infectious disease is_a: DOID:936 ! brain disease [Term] id: DOID:12156 name: arachnoiditis def: "Acute or chronic inflammation of the arachnoid membrane of the meninges most often involving the spinal cord or base of the brain. This term generally refers to a persistent inflammatory process characterized by thickening of the ARACHNOID membrane and dural adhesions. Associated conditions include prior surgery, infections, trauma, SUBARACHNOID HEMORRHAGE, and chemical irritation. Clinical features vary with the site of inflammation, but include cranial neuropathies, radiculopathies, and myelopathies. (From Joynt, Clinical Neurology, 1997, Ch48, p25)" [MESH:D001100] synonym: "arachnoiditides" EXACT [] synonym: "arachnoid membrane inflammation" EXACT [] synonym: "arachnoid membrane inflammations" EXACT [] xref: GARD:5839 xref: ICD10CM:G03 xref: MESH:D001100 xref: NCI:C37913 is_a: DOID:9471 ! meningitis [Term] id: DOID:12157 name: aseptic meningitis def: "A meningitis that is characterized by meningeal inflammation not caused by an identifiable bacterial pathogen in the cerebrospinal fluid. A large majority of them are caused by enteroviruses. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2728900/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23622323 "DO"] synonym: "acute aseptic meningitis" EXACT [] xref: EFO:1000823 xref: ICD10CM:G03.0 xref: MESH:D008582 xref: NCI:C118299 is_a: DOID:10310 ! viral meningitis is_a: DOID:225 ! syndrome is_a: DOID:9471 ! meningitis [Term] id: DOID:12161 name: peripheral retinal degeneration synonym: "peripheral degeneration of retina" EXACT [] xref: ICD10CM:H35.4 xref: ICD9CM:362.6 xref: NCI:C34919 is_a: DOID:8466 ! retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12162 name: pseudoretinitis pigmentosa synonym: "secondary pigmentary degeneration of retina" EXACT [] synonym: "secondary pigmentary retinal degeneration" EXACT [] xref: ICD10CM:H35.45 xref: ICD9CM:362.65 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12163 name: senile reticular retinal degeneration synonym: "senile reticular degeneration of retina" EXACT [] xref: ICD9CM:362.64 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12164 name: Blessig's cysts synonym: "Blessig cysts" EXACT [] synonym: "Iwanoff's cysts" EXACT [] synonym: "Microcystoid degeneration of retina" EXACT [] synonym: "Microcystoid retinal degeneration" EXACT [] xref: ICD10CM:H35.42 xref: ICD9CM:362.62 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12165 name: retinal lattice degeneration synonym: "palisade degeneration of retina" EXACT [] xref: ICD10CM:H35.41 xref: ICD9CM:362.63 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12166 name: cobblestone retinal degeneration synonym: "Paving stone degeneration of retina" EXACT [] synonym: "Paving stone retinal degeneration" EXACT [] xref: ICD10CM:H35.43 xref: ICD9CM:362.61 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12167 name: secondary vitreoretinal degeneration xref: ICD10CM:H35.46 xref: ICD9CM:362.66 is_a: DOID:12161 ! peripheral retinal degeneration created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12168 name: ulnar nerve lesion synonym: "lesion of ulnar nerve" EXACT [] xref: ICD10CM:G56.2 xref: ICD9CM:354.2 is_a: DOID:4613 ! ulnar neuropathy is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12169 name: carpal tunnel syndrome def: "A nerve compression syndrome characterized by pressure on the median nerve at the wrist resulting in numbness, tingling, pain, and muscle weakness in the hand and forearm. (DO)" [https://en.wikipedia.org/wiki/Carpal_tunnel_syndrome "DO", https://medlineplus.gov/ency/article/000433.htm "DO", https://orthoinfo.aaos.org/en/diseases--conditions/carpal-tunnel-syndrome/ "DO"] synonym: "carpal tunnel median neuropathy" EXACT [] synonym: "CARPAL TUNNEL SYNDROME, FAMILIAL" EXACT [] synonym: "Carpal Tunnel Syndromes" EXACT [] synonym: "Compression Neuropathy, Carpal Tunnel" EXACT [] synonym: "CTS" EXACT [] synonym: "CTS - carpal tunnel syndrome" EXACT [] synonym: "Entrapment Neuropathy, Carpal Tunnel" EXACT [] synonym: "median nerve entrapment" EXACT [] synonym: "thenar amyotrophy of carpal origin" EXACT [] xref: EFO:0004143 xref: ICD10CM:G56.0 xref: ICD9CM:354.0 xref: MESH:D002349 xref: MIM:PS115430 xref: NCI:C34450 is_a: DOID:571 ! median neuropathy is_a: DOID:573 ! nerve compression syndrome is_a: DOID:9004498 ! Cumulative Trauma Disorders [Term] id: DOID:1217 name: fascioloidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver of a variety of wild and domestic ruminants by Fascioloides magna. (DO)" [http://en.wikipedia.org/wiki/Fascioloides_magna "DO"] synonym: "Fascioloidiases" EXACT [] xref: EFO:0007268 xref: MESH:D005213 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:888 ! fasciolopsiasis is_a: DOID:9006372 ! Animal Helminthiasis [Term] id: DOID:12170 name: radial nerve lesion synonym: "lesion of radial nerve" EXACT [] synonym: "radial nerve lesions" EXACT [] xref: EFO:1001143 xref: ICD10CM:G56.3 xref: ICD9CM:354.3 is_a: DOID:12171 ! radial neuropathy is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex [Term] id: DOID:12171 name: radial neuropathy def: "Disease involving the RADIAL NERVE. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the AXILLA and radial groove of the HUMERUS." [MESH:D020425] synonym: "crutch palsies" EXACT [] synonym: "Crutch Palsy" EXACT [] synonym: "Radial Nerve Disease" EXACT [] synonym: "Radial Nerve Diseases" EXACT [] synonym: "Radial Neuropathies" EXACT [] synonym: "Saturday Night Palsies" EXACT [] synonym: "Saturday Night Palsy" EXACT [] synonym: "superficial radial nerve lesion" EXACT [] xref: MESH:D020425 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:12175 name: dyshormonogenic goiter synonym: "dyshormonogenic goitre" EXACT [] xref: ICD9CM:246.1 is_a: DOID:12176 ! goiter [Term] id: DOID:12176 name: goiter def: "A thyroid gland disease that involves an abnormal enlargement of the thyroid gland. (DO)" [http://www.thyroid.org/patients/patient_brochures/goiter.html "DO"] synonym: "goiters" EXACT [] synonym: "goitre" EXACT [] xref: EFO:0004283 xref: ICD9CM:240.9 xref: MESH:D006042 xref: NCI:C26785 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:12177 name: common variable immunodeficiency def: "An agammaglobulinemia that is characterized by low Ig levels with phenotypically normal B cells that can proliferate but do not develop into Ig-producing cells and that esults in insufficient production of antibodies needed to respond to exposure of pathogens. (DO)" [http://en.wikipedia.org/wiki/Common_variable_immunodeficiency "DO", http://www.merck.com/mmpe/sec13/ch164/ch164g.html "DO"] synonym: "acquired agammaglobulinemia" EXACT [] synonym: "Acquired Hypogammaglobulinemia" EXACT [] synonym: "acquired hypogammaglobulinemias" EXACT [] synonym: "autosomal dominant common variable immunodeficiency" NARROW [] synonym: "common variable agammaglobulinemia" EXACT [] synonym: "Common Variable Hypogammaglobulinemia" EXACT [] synonym: "common variable hypogammaglobulinemias" EXACT [] synonym: "Common Variable Immune Deficiency" EXACT [] synonym: "COMMON VARIABLE IMMUNE DEFICIENCY, DOMINANT" NARROW [] synonym: "COMMON VARIABLE IMMUNE DEFICIENCY, RECESSIVE" NARROW [] synonym: "Common Variable Immunodeficiencies" EXACT [] synonym: "CVID" NARROW [] synonym: "IL21 DEFICIENCY" EXACT [] synonym: "late-onset immunoglobulin deficiencies" EXACT [] synonym: "late-onset immunoglobulin deficiency" EXACT [] synonym: "sporadic hypogammaglobulinemia" EXACT [] xref: EFO:0000367 xref: EFO:0020035 xref: GARD:6140 xref: ICD10CM:D83 xref: ICD9CM:279.06 xref: MESH:D017074 xref: MIM:PS607594 xref: MONDO:0015517 xref: NCI:C26725 xref: ORDO:1572 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:417 ! autoimmune disease [Term] id: DOID:12179 name: tinea corporis def: "A dermatophytosis that results_in fungal infection located_in skin, limited to the stratum corneum of the epidermis, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, and has_symptom red colored skin rash. The border of the rash lesions look scaly. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000877.htm "DO"] synonym: "dermatophytosis of the body" EXACT [] synonym: "dermatophytosis of the trunk" EXACT [] xref: ICD9CM:110.5 is_a: DOID:8913 ! dermatophytosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1218 name: echinostomiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Echinostomiasis.htm "DO"] synonym: "Echinostomiases" EXACT [] synonym: "infection by Echinochasmus" EXACT [] xref: EFO:0007246 xref: MESH:D004451 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:888 ! fasciolopsiasis [Term] id: DOID:12185 name: otosclerosis def: "An otitis interna characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. (DO)" [http://en.wikipedia.org/wiki/Otosclerosis "DO", http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/middle_ear_and_tympanic_membrane_disorders/otosclerosis.html?qt=otosclerosis&alt=sh "DO"] synonym: "otoscleroses" EXACT [] synonym: "otospongioses" EXACT [] synonym: "otospongiosis" EXACT [] synonym: "OTS" EXACT [] xref: EFO:0004213 xref: ICD10CM:H80.80 xref: ICD9CM:387.8 xref: MESH:D010040 xref: MIM:PS166800 xref: NCI:C185242 xref: ORDO:2794 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2952 ! inner ear disease [Term] id: DOID:1219 name: dicrocoeliasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Dicrocoelium dendriticum. The symptoms include cholecystitis, liver abscesses and upper abdominal pain. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Dicrocoeliasis.htm "DO"] synonym: "dicrocoeliases" EXACT [] synonym: "disease due to dicrocoeliidae" EXACT [] xref: EFO:0007234 xref: ICD10CM:B66.2 xref: MESH:D004011 is_a: DOID:888 ! fasciolopsiasis [Term] id: DOID:12190 name: descending colon cancer synonym: "Ca descending colon" EXACT [] synonym: "malignant neoplasm of left colon" EXACT [] synonym: "malignant tumor of descending colon" EXACT [] xref: ICD10CM:C18.6 xref: ICD9CM:153.2 is_a: DOID:219 ! colon cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:12191 name: splenic flexure cancer synonym: "Ca splenic flexure - colon" EXACT [] synonym: "malignant neoplasm of splenic flexure" EXACT [] synonym: "malignant tumor of splenic flexure" EXACT [] xref: ICD10CM:C18.5 xref: ICD9CM:153.7 is_a: DOID:12190 ! descending colon cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:12192 name: sigmoid colon cancer synonym: "Ca sigmoid colon" EXACT [] synonym: "malignant tumor of sigmoid colon" EXACT [] xref: ICD10CM:C18.7 xref: ICD9CM:153.3 is_a: DOID:219 ! colon cancer [Term] id: DOID:12196 name: superficial keratitis xref: ICD10CM:H16.10 xref: ICD9CM:370.20 xref: RDO:9002831 is_a: DOID:4677 ! keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12197 name: punctate epithelial keratoconjunctivitis synonym: "punctate keratitis" EXACT [] synonym: "Thygeson's superficial punctate keratitis" EXACT [] synonym: "Thygeson superficial punctate keratitis" EXACT [] xref: ICD10CM:H16.14 xref: ICD9CM:370.21 is_a: DOID:12196 ! superficial keratitis is_a: DOID:9368 ! keratoconjunctivitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12205 name: dengue disease alt_id: MIM:614371 def: "A viral infectious disease that results in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted by Aedes mosquito bite. The infection has symptom fever, has symptom severe headache, has symptom severe pain behind the eyes, has symptom joint pain, has symptom muscle and bone pain, has symptom rash, and has symptom mild bleeding. (DO)" [http://www.cdc.gov/dengue/fAQFacts/index.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue "DO"] synonym: "Break Bone Fever" EXACT [] synonym: "Breakbone Fever" EXACT [] synonym: "Classical Dengue" EXACT [] synonym: "Classical Dengue Fever" EXACT [] synonym: "Classical Dengue Fevers" EXACT [] synonym: "Classical Dengues" EXACT [] synonym: "classic dengue" EXACT [] synonym: "dengue" EXACT [] synonym: "Dengue Fever" EXACT [] synonym: "dengue fever, protection against" RELATED [] synonym: "DENGUE FEVER, SUSCEPTIBILITY TO" NARROW [] synonym: "DENGUE HEMORRHAGIC FEVER, SUSCEPTIBILITY TO" NARROW [] synonym: "DENGUE SHOCK SYNDROME, SUSCEPTIBILITY TO" NARROW [] synonym: "dengue virus, susceptibility to" RELATED [] xref: EFO:0005547 xref: GARD:6254 xref: ICD10CM:A90 xref: ICD9CM:061 xref: MESH:D003715 xref: NCI:C34528 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:12206 name: dengue hemorrhagic fever def: "A dengue disease that occurs when a person experiences a second infection with a heterologous Dengue virus serotype, which is transmitted_by Aedes mosquito bite. The infection has_symptom hemorrhagic lesions of the skin, has_symptom thrombocytopenia, has_symptom reduction in the fluid part of the blood, and has_symptom high fever. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC88892/pdf/cm000480.pdf "DO", http://www.nlm.nih.gov/MEDLINEPLUS/ency/article/001373.htm "DO", http://www.who.int/mediacentre/factsheets/fs117/en/ "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dengue%20hemorrhagic%20fever "DO"] synonym: "dengue haemorrhagic fever" EXACT [] synonym: "DHF" EXACT [] synonym: "hemorrhagic dengue" EXACT [] synonym: "Hemorrhagic Dengues" EXACT [] synonym: "Philippine Hemorrhagic Fever" EXACT [] synonym: "Severe Dengue" EXACT [] synonym: "Severe Dengues" EXACT [] synonym: "Singapore hemorrhagic fever" EXACT [] synonym: "Thai hemorrhagic fever" EXACT [] xref: EFO:0004227 xref: ICD10CM:A91 xref: MESH:D019595 xref: NCI:C34683 is_a: DOID:12205 ! dengue disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12211 name: filarial elephantiasis def: "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis. (DO)" [https://www.cdc.gov/parasites/lymphaticfilariasis/index.html "DO", https://www.who.int/news-room/fact-sheets/detail/lymphatic-filariasis "DO"] synonym: "bancroftian elephantiases" EXACT [] synonym: "Bancroftian Elephantiasis" EXACT [] synonym: "Bancroftian filarial chyluria" EXACT [] synonym: "elephantiasis of eyelid" EXACT [] synonym: "Filarial Elephantiases" EXACT [] synonym: "Lymphatic Filariases" EXACT [] synonym: "lymphatic filariasis" EXACT [] xref: EFO:0007272 xref: MESH:D004605 xref: NCI:C128360 is_a: DOID:1080 ! filariasis is_a: DOID:4976 ! elephantiasis is_a: DOID:530 ! eyelid disease [Term] id: DOID:12215 name: oligohydramnios def: "A placenta disease that is characterized by a deficiency of amniotic fluid sometimes resulting in an embryonic defect through adherence between embryo and amnion. (DO)" [http://www.merriam-webster.com/medlineplus/oligohydramnios "DO"] synonym: "ANHYDRAMNIOS" NARROW [] synonym: "antepartum oligohydramnios" EXACT [] synonym: "oligohydramnios - delivered" EXACT [] xref: EFO:0007401 xref: ICD10CM:O41.0 xref: ICD10CM:O41.00 xref: ICD9CM:658.0 xref: MESH:D016104 xref: NCI:C92839 is_a: DOID:780 ! placenta disease is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:12217 name: Lewy body dementia alt_id: MIM:127750 def: "A dementia that is characterized by the development of abnormal proteinaceous (alpha-synuclein) cytoplasmic inclusions, called Lewy bodies, throughout the brain that results in progressive decline in mental abilities that has_material_basis_in accumulation of alpha-synuclein, SCNA, (protein). The causal mutation might be in SCNA or SCNB or some other gene(s) but the end result is always accumulation of SCNA in Lewy bodies. (DO)" [http://en.wikipedia.org/wiki/Dementia_with_Lewy_bodies "DO", http://www.mayoclinic.org/diseases-conditions/lewy-body-dementia/basics/definition/CON-20025038 "DO"] synonym: "cortical Lewy body disease" EXACT [] synonym: "dementia with Lewy bodies" EXACT [] synonym: "Diffuse Lewy Body Disease" EXACT [] synonym: "DIFFUSE LEWY BODY DISEASE DIFFUSE LEWY BODY DISEASE WITH GAZE PALSY" NARROW [] synonym: "DLB" EXACT [] synonym: "Lewy body disease" EXACT [] synonym: "Lewy Body Type Senile Dementia" EXACT [] synonym: "LEWY BODY VARIANT OF ALZHEIMER'S DISEASE" NARROW [] synonym: "LEWY BODY VARIANT OF ALZHEIMER DISEASE" NARROW [] synonym: "senile dementia of the Lewy body type" EXACT [] xref: EFO:0006792 xref: GARD:3243 xref: ICD10CM:G31.83 xref: ICD9CM:331.82 xref: MESH:D020961 xref: NCI:C84826 is_a: DOID:0080855 ! Parkinsonism is_a: DOID:1307 ! dementia [Term] id: DOID:1222 name: cartilage disease def: "A connective tissue disease that is located_in cartilage. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146013/ "DO"] synonym: "cartilage diseases" EXACT [] synonym: "cartilage disorder" EXACT [] synonym: "chondropathy" EXACT [] xref: EFO:0005802 xref: ICD10CM:M94.9 xref: MESH:D002357 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:12223 name: specific bursitis often of occupational origin synonym: "specific bursitides often of occupational origin" EXACT [] xref: ICD9CM:727.2 is_a: DOID:2965 ! bursitis is_a: DOID:9005463 ! Occupational Diseases created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12225 name: Plica syndrome xref: ICD10CM:M67.5 xref: ICD9CM:727.83 is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12234 name: cascade stomach synonym: "Hourglass stricture or stenosis of stomach" EXACT [ICD9CM_2006:537.6] xref: ICD10CM:K31.2 xref: ICD9CM:537.6 xref: RDO:9003454 is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12236 name: primary biliary cholangitis def: "A liver cirrhosis characterized by chronic and slow progressive destruction of intrahepatic bile ducts. (DO)" [http://en.wikipedia.org/wiki/Primary_biliary_cirrhosis "DO", http://www.merckmanuals.com/professional/hepatic_and_biliary_disorders/fibrosis_and_cirrhosis/primary_biliary_cirrhosis_pbc.html?qt=primary%20biliary%20cirrhosis&alt=sh "DO", https://www.mayoclinic.org/diseases-conditions/primary-biliary-cholangitis-pbc/symptoms-causes/syc-20376874 "DO"] synonym: "biliary cirrhosis" EXACT [] synonym: "biliary liver cirrhoses" EXACT [] synonym: "biliary liver cirrhosis" EXACT [] synonym: "cholestatic cirrhosis" EXACT [] synonym: "chronic nonsuppurative destructive cholangitis" EXACT [] synonym: "obstructive liver cirrhosis" EXACT [] synonym: "PBC" EXACT [] synonym: "primary biliary cirrhosis" EXACT [] synonym: "secondary biliary cirrhosis" EXACT [] xref: EFO:0004267 xref: EFO:1001486 xref: EFO:1001487 xref: GARD:7459 xref: ICD10CM:K74.3 xref: ICD10CM:K74.5 xref: ICD9CM:571.6 xref: MESH:D008105 xref: MIM:PS109720 xref: NCI:C27167 xref: NCI:C51225 xref: ORDO:186 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:1852 ! intrahepatic cholestasis is_a: DOID:5082 ! liver cirrhosis [Term] id: DOID:12237 name: bile reflux def: "A biliary tract disease characterized by the flow of bile up into the stomach and/or esophagus. (DO)" [https://en.wikipedia.org/wiki/Biliary_reflux "DO", https://www.mayoclinic.org/diseases-conditions/bile-reflux/symptoms-causes/syc-20370115 "DO"] xref: EFO:1000838 xref: MESH:D001655 is_a: DOID:4071 ! duodenogastric reflux is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:12239 name: anal margin squamous cell carcinoma synonym: "perianal skin squamous cell carcinoma" EXACT [] synonym: "squamous cell carcinoma of anal margin" EXACT [] xref: ICD10CM:C44.520 xref: NCI:C6925 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4284 ! anal margin carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:12241 name: beta thalassemia alt_id: MIM:613985 def: "A thalassemia characterized by the reduced or absent synthesis of the beta globin chains of hemoglobin. (DO)" [http://en.wikipedia.org/wiki/Beta_thalassemia "DO", https://ghr.nlm.nih.gov/condition/beta-thalassemia "DO", https://pubmed.ncbi.nlm.nih.gov/31030806/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1426/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10395635 "DO"] synonym: "beta0^ Thalassemia" NARROW [] synonym: "beta^0^ Thalassemia" NARROW [] synonym: "Beta-e-thalassemia" NARROW [] synonym: "Beta-Houston-thalassemia" NARROW [] synonym: "BETA-MALAY-THALASSEMIA" NARROW [] synonym: "BETA-THALASSEMIA DOMINANT" NARROW [] synonym: "BETA-THALASSEMIA HBB/LCRB" NARROW [] synonym: "Beta-thalassemia, lermontov type" EXACT [] synonym: "beta thalassemias" EXACT [] synonym: "beta Type Microcytemia" EXACT [] synonym: "beta Type Microcytemias" EXACT [] synonym: "beta Type Thalassemia" EXACT [] synonym: "beta Type Thalassemias" EXACT [] synonym: "BETA ZERO THALASSEMIA" NARROW [] synonym: "Erythroblastic Anemia" EXACT [] synonym: "erythroblastic anemias" EXACT [] synonym: "HEMOGLOBIN AGENOGI" RELATED [] synonym: "HEMOGLOBIN AUBAGNE" RELATED [] synonym: "Hemoglobin Brescia" RELATED [] synonym: "HEMOGLOBIN CARIBBEAN" RELATED [] synonym: "hemoglobin City of Hope" RELATED [] synonym: "HEMOGLOBIN DEER LODGE" RELATED [] synonym: "Hemoglobin Durham-N.C." RELATED [] synonym: "HEMOGLOBIN E (SASKATOON)" RELATED [] synonym: "Hemoglobin F Disease" EXACT [] synonym: "HEMOGLOBIN HK" RELATED [] synonym: "HEMOGLOBIN HOFU" RELATED [] synonym: "HEMOGLOBIN HRADEC KRALOVE" RELATED [] synonym: "Hemoglobin J (Cambridge)" RELATED [] synonym: "HEMOGLOBIN J (RAMBAM)" RELATED [] synonym: "Hemoglobin Mississippi" RELATED [] synonym: "Hemoglobin MS" RELATED [] synonym: "HEMOGLOBIN Q (INDIA)" RELATED [] synonym: "HEMOGLOBIN SAKI" RELATED [] synonym: "hemoglobin Siriraj" RELATED [] synonym: "Mediterranean anemia" EXACT [] synonym: "Mediterranean anemias" EXACT [] xref: GARD:871 xref: ICD10CM:D56.1 xref: ICD9CM:282.44 xref: MESH:D017086 xref: NCI:C34375 xref: ORDO:848 is_a: DOID:10241 ! thalassemia [Term] id: DOID:12246 name: histoplasmosis meningitis synonym: "histoplasmosis with meningitis" EXACT [] xref: ICD9CM:115.91 is_a: DOID:11608 ! fungal meningitis is_a: DOID:1731 ! histoplasmosis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12253 name: testicular lymphoma synonym: "lymphoma of the testis" EXACT [] synonym: "malignant lymphoma of testis" EXACT [SNOMEDCT_2005_07_31:277664004] xref: NCI:C6810 is_a: DOID:0060058 ! lymphoma is_a: DOID:2998 ! testicular cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12257 name: medulloadrenal hyperfunction xref: ICD10CM:E27.5 xref: ICD9CM:255.6 xref: RDO:9004082 is_a: DOID:9553 ! adrenal gland disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12259 name: hemophilia B def: "A blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000539.htm "DO"] synonym: "Christmas disease" EXACT [] synonym: "congenital factor IX deficiency" EXACT [] synonym: "congenital factor IX disorder" EXACT [] synonym: "F9 deficiencies" EXACT [] synonym: "F9 Deficiency" EXACT [] synonym: "factor IX deficiencies" EXACT [] synonym: "factor IX deficiency" EXACT [] synonym: "functional factor IX deficiency," EXACT [] synonym: "Haemophilia B" EXACT [] synonym: "HEMB" EXACT [] synonym: "hemophilia B(M)" EXACT [] synonym: "hemophilia B Brandenburg" NARROW [] synonym: "HEMOPHILIA B, FACTOR IX DEFICIENCY" EXACT [] synonym: "hemophilia B Leyden" NARROW [] synonym: "hereditary factor IX deficiency disease" EXACT [] synonym: "plasma thromboplastin component deficiency" EXACT [] synonym: "plasma thromboplastin component deficiency hemophilia B(M)" NARROW [] xref: EFO:0009154 xref: GARD:8732 xref: ICD10CM:D67 xref: ICD9CM:286.1 xref: MESH:D002836 xref: MIM:306900 xref: MONDO:0010604 xref: NCI:C26721 xref: OMIA:000438 xref: ORDO:98879 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:12265 name: chronic salpingo-oophoritis synonym: "chronic salpingitis/oophoritis" EXACT [] synonym: "chronic salpingitis and oophoritis" EXACT [] xref: ICD10CM:N70.1 xref: ICD9CM:614.1 is_a: DOID:10972 ! salpingo-oophoritis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:1227 name: neutropenia def: "A decrease in the number of NEUTROPHILS found in the blood." [MESH:D009503] synonym: "neutropenias" EXACT [] xref: ICD10CM:D70 xref: ICD9CM:288.0 xref: MESH:D009503 xref: MONDO:0001475 xref: NCI:C80520 is_a: DOID:12987 ! agranulocytosis [Term] id: DOID:12270 name: coloboma alt_id: MIM:120300 alt_id: MIM:216820 def: "An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc. (DO)" [http://en.wikipedia.org/wiki/Coloboma "DO", http://ghr.nlm.nih.gov/condition/coloboma "DO"] synonym: "agenesis of macula" EXACT [] synonym: "CHORIORETINAL COLOBOMA" NARROW [] synonym: "COI" EXACT [] synonym: "coloboma of eye" EXACT [] synonym: "coloboma of iris, choroid, and retina" EXACT [] synonym: "colobomas" EXACT [] synonym: "congenital ocular coloboma" EXACT [] synonym: "ocular coloboma" EXACT [] synonym: "ocular coloboma, autosomal dominant" NARROW [] synonym: "ocular coloboma, autosomal recessive" NARROW [] synonym: "uveoretinal coloboma" EXACT [] xref: GARD:1433 xref: ICD10CM:Q13.0 xref: MESH:D003103 xref: NCI:C98877 xref: ORDO:194 xref: ORDO:98945 is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:12271 name: aniridia def: "An iris disease that is characterized by a complete or partial absence of the colored part of the eye. (DO)" [https://medlineplus.gov/genetics/condition/aniridia/ "DO"] synonym: "absent iris" EXACT [] synonym: "AN" EXACT [] synonym: "aplasia of iris" EXACT [] synonym: "atypical aniridia" NARROW [] synonym: "CATARACT, CONGENITAL, WITH LATE-ONSET CORNEAL DYSTROPHY" NARROW [] synonym: "congenital aniridia" EXACT [] synonym: "irideremia" EXACT [] synonym: "isolated aniridia" EXACT [] xref: EFO:0004132 xref: GARD:5816 xref: ICD10CM:Q13.1 xref: ICD9CM:743.45 xref: MESH:D015783 xref: MIM:PS106210 xref: MONDO:0019172 xref: NCI:C84563 xref: ORDO:250923 is_a: DOID:240 ! iris disease is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:12273 name: anisometropia def: "A condition of an inequality of refractive power of the two eyes." [MESH:D015858] xref: ICD10CM:H52.31 xref: ICD9CM:367.31 xref: MESH:D015858 is_a: DOID:9835 ! refractive error [Term] id: DOID:12275 name: cutaneous diphtheria def: "A pyoderma that is a milder form of diphtheria restricted to the skin producing shallow skin ulcers is caused by direct physical contact of indivduals infected with Corynebacterium diphtheriae as the bacteria releases the diphtheria toxin. (DO)" [http://en.wikipedia.org/wiki/Diphtheria "DO", http://www.merck.com/mmpe/sec14/ch172/ch172c.html "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A1746 "DO"] xref: EFO:1000683 xref: ICD10CM:A36.3 xref: ICD9CM:032.85 xref: NCI:C34544 is_a: DOID:4223 ! pyoderma [Term] id: DOID:12276 name: malignant tumor of undescended testis synonym: "malignant neoplasm of retained testis" EXACT [] synonym: "malignant neoplasm of undescended testis" EXACT [] synonym: "malignant tumor of retained testis" EXACT [] synonym: "malignant tumour of retained testis" EXACT [] synonym: "malignant tumour of undescended testis" EXACT [] xref: ICD10CM:C62.0 xref: ICD9CM:186.0 xref: RDO:9003719 is_a: DOID:2998 ! testicular cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12282 name: femoral vein thrombophlebitis synonym: "phlebitis and thrombophlebitis of femoral vein" EXACT [] synonym: "thrombophlebitis of deep femoral vein" EXACT [] synonym: "thrombophlebitis of the femoral vein" EXACT [] xref: ICD10CM:I80.1 xref: ICD9CM:451.11 is_a: DOID:3875 ! thrombophlebitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12286 name: testicular leukemia xref: NCI:C9277 is_a: DOID:1240 ! leukemia is_a: DOID:2998 ! testicular cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12287 name: Crimean-Congo hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthonairovirus haemorrhagiae, which is transmitted_by Hyalomma ticks. The infection has_symptom headache, has_symptom high fever, has_symptom back pain, has_symptom joint pain, has_symptom stomach pain, has_symptom vomiting, has_symptom red eyes, has_symptom flushed face, has_symptom red throat, has_symptom petechiae (red spots) on the palate, has_symptom jaundice, has_symptom nosebleeds, and has_symptom blood in the feces and urine. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/cchf.htm "DO", http://www.who.int/mediacentre/factsheets/fs208/en/ "DO"] synonym: "CHF Congo virus" EXACT [] synonym: "Congo virus infection" EXACT [] synonym: "Congo Virus Infections" EXACT [] synonym: "Crimean hemorrhagic fever" EXACT [] synonym: "Crimean hemorrhagic fevers" EXACT [] xref: ICD10CM:A98.0 xref: ICD9CM:065.0 xref: MESH:D006479 xref: NCI:C34682 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004137 ! Bunyaviridae Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers [Term] id: DOID:1229 name: paranoid schizophrenia def: "A schizophrenia characterized by delusions or auditory hallucinations of persecution or being plotted against without thought disorder, disorganized behavior, or affective flattening. (DO)" [http://en.wikipedia.org/wiki/Paranoid_schizophrenia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000936.htm "DO"] synonym: "chronic paranoid schizophrenia" EXACT [] synonym: "paranoid schizophrenias" EXACT [] synonym: "paranoid type schizophrenia" EXACT [] synonym: "paranoid type schizophrenia subchronic state" EXACT [] synonym: "paraphrenia - late" EXACT [] synonym: "paraphrenic schizophrenia" EXACT [] xref: ICD10CM:F20.0 xref: ICD9CM:295.3 xref: ICD9CM:295.32 xref: MESH:D012563 xref: NCI:C35006 is_a: DOID:5419 ! schizophrenia [Term] id: DOID:12294 name: atypical depressive disorder def: "A mood disorder that is characterized by mood reactivity and positivity, significant weight gain or increased appetite, excessive sleep or somnolence, a sensation of heaviness in limbs known as leaden paralysis, and significant social impairment as a consequence of hypersensitivity to perceived interpersonal rejection. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"] synonym: "Atypical depression" EXACT [SNOMEDCT_2005_07_31:192371004] xref: ICD10CM:F32.89 xref: ICD9CM:296.82 xref: RDO:9003234 is_a: DOID:3324 ! mood disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12297 name: Vogt-Koyanagi-Harada disease def: "An autoimmune disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. (DO)" [http://en.wikipedia.org/wiki/Vogt%E2%80%93Koyanagi%E2%80%93Harada_syndrome "DO"] synonym: "Harada's disease" EXACT [] synonym: "uveomeningoencephalitic syndrome" EXACT [] synonym: "uveomeningoencephalitides" EXACT [] synonym: "Uveomeningoencephalitis" EXACT [] synonym: "VKH Syndrome" EXACT [] synonym: "VKH Syndrome (Vogt Koyanagi Harada)" EXACT [] synonym: "Vogt Koyanagi Harada syndrome" EXACT [] synonym: "Vogt-Koyanagi syndrome" EXACT [] xref: GARD:7862 xref: ICD10CM:H20.82 xref: ICD9CM:364.24 xref: MESH:D014607 xref: MONDO:0018092 xref: NCI:C85218 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:13141 ! uveitis is_a: DOID:225 ! syndrome is_a: DOID:438 ! autoimmune disease of the nervous system [Term] id: DOID:12298 name: intrahepatic gall duct cancer synonym: "Ca intrahepatic bile ducts" EXACT [] synonym: "malignant neoplasm of intrahepatic bile ducts" EXACT [] synonym: "malignant neoplasm of intrahepatic biliary passages" EXACT [] synonym: "malignant neoplasm of intrahepatic gall duct" EXACT [SNOMEDCT_2005_07_31:187777008] xref: ICD9CM:155.1 xref: RDO:9003143 is_a: DOID:3121 ! gallbladder cancer created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:12304 name: conjunctival pigmentation xref: EFO:1000682 xref: ICD10CM:H11.13 xref: ICD9CM:372.55 xref: RDO:9004848 is_a: DOID:10123 ! pigmentation disease is_a: DOID:11653 ! conjunctival deposit created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12305 name: Bloch-Sulzberger syndrome alt_id: MESH:C531716 alt_id: MIM:308300 def: "A genodermatosis occurring mostly in females and characterized by skin changes in three phases - vesiculobullous, verrucous papillomatous, and macular melanodermic. Hyperpigmentation is bizarre and irregular. Sixty percent of patients have abnormalities of eyes, teeth, central nervous system, and skin appendages." [MESH:D007184] synonym: "Bloch-Siemens-Sulzberger Syndrome" EXACT [] synonym: "Bloch-Siemens Syndrome" EXACT [] synonym: "incontinentia pigmenti" EXACT [] synonym: "INCONTINENTIA PIGMENTI, ATYPICAL" NARROW [] synonym: "incontinentia pigmenti, familial male-lethal type" EXACT [] synonym: "Incontinentia pigmenti syndrome" EXACT [] synonym: "incontinentia pigmenti, type II" EXACT [] synonym: "incontinentia pigmenti, type II, atypical" NARROW [] synonym: "IP" EXACT [] synonym: "IP2" EXACT [] xref: EFO:1000672 xref: ICD10CM:Q82.3 xref: MESH:D007184 xref: MONDO:0010631 xref: NCI:C84787 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:12306 name: vitiligo alt_id: MIM:193200 alt_id: MIM:606579 alt_id: MIM:607836 alt_id: MIM:608391 alt_id: MIM:608392 alt_id: MIM:609400 def: "An autoimmune disease that causes depigmentation of patches of skin resulting from loss of function or death of melanoctyes. (DO)" [http://en.wikipedia.org/wiki/Vitiligo "DO"] synonym: "AIS1" RELATED [] synonym: "AIS2" RELATED [] synonym: "AIS3" RELATED [] synonym: "AIS4" RELATED [] synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED" RELATED [] synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 4-RELATED" RELATED [] synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 7-RELATED" RELATED [] synonym: "AUTOIMMUNE DISEASE SUSCEPTIBILITY LOCUS, CHROMOSOME 8-RELATED" RELATED [] synonym: "Autoimmune Disease, Susceptibility To, 1" RELATED [] synonym: "Autoimmune Disease, Susceptibility To, 2" RELATED [] synonym: "Autoimmune Disease, Susceptibility To, 3" RELATED [] synonym: "Autoimmune Disease, Susceptibility To, 4" RELATED [] synonym: "SLEV1" EXACT [] synonym: "VAMAS1" RELATED [] synonym: "VAMAS2" RELATED [] synonym: "VAMAS3" RELATED [] synonym: "VAMAS4" RELATED [] synonym: "VAMAS5" RELATED [] synonym: "VAMAS6" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 2" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 3" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 4" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 5" RELATED [] synonym: "Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6" RELATED [] synonym: "vitiligo-related systemic lupus erythematosus" EXACT [] synonym: "VTLG" EXACT [] xref: EFO:0004208 xref: GARD:10751 xref: ICD10CM:L80 xref: ICD9CM:709.01 xref: MESH:D014820 xref: NCI:C26915 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:9005660 ! Hypopigmentation [Term] id: DOID:12307 name: anterior corneal pigmentation synonym: "anterior corneal pigmentations" EXACT [] xref: ICD10CM:H18.01 xref: ICD9CM:371.11 xref: RDO:9003424 is_a: DOID:11547 ! corneal deposit created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12308 name: Dubin-Johnson syndrome alt_id: MIM:237500 def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin without elevation of liver alanine transaminase and aspartate transaminase enzymes as a result of the deficient ability of hepatocytes to secrete conjugated bilirubin into the bile. (DO)" [http://en.wikipedia.org/wiki/Dubin-Johnson_syndrome "DO"] synonym: "ABCC2-RELATED CONDITION" EXACT [] synonym: "chronic idiopathic jaundice" EXACT [] synonym: "chronic idiopathic jaundices" EXACT [] synonym: "DJS" EXACT [] synonym: "HBLRDJ" EXACT [] synonym: "Hyperbilirubinemia 2" EXACT [] synonym: "HYPERBILIRUBINEMIA, DUBIN-JOHNSON TYPE" EXACT [] synonym: "Hyperbilirubinemia II" EXACT [] xref: GARD:6289 xref: ICD10CM:E80.6 xref: MESH:D007566 xref: NCI:C34741 is_a: DOID:2383 ! neonatal jaundice is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia [Term] id: DOID:12309 name: urticaria pigmentosa def: "The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules." [MESH:D014582] synonym: "EFO:1001229" EXACT [] synonym: "Maculopapular Cutaneous Mastocytoses" EXACT [] synonym: "Maculopapular Cutaneous Mastocytosis" EXACT [] synonym: "UP/MPCM" EXACT [] xref: EFO:1001229 xref: MESH:D014582 xref: NCI:C3433 xref: ORDO:79457 is_a: DOID:10123 ! pigmentation disease is_a: DOID:3663 ! cutaneous mastocytosis [Term] id: DOID:12311 name: stromal corneal pigmentation synonym: "stromal corneal pigmentations" EXACT [] xref: EFO:1000770 xref: ICD10CM:H18.06 xref: ICD9CM:371.12 xref: RDO:9003426 is_a: DOID:10123 ! pigmentation disease is_a: DOID:11547 ! corneal deposit created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12318 name: granular corneal dystrophy def: "An epithelial-stromal TGFBI dystrophy that is characterized by progressive accumulation of deposits within the layers of the cornea. (DO)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO"] xref: ICD10CM:H18.53 xref: ICD9CM:371.53 xref: NCI:C34651 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:12323 name: cough variant asthma def: "A chronic asthma that is characterized by chronic nonproductive cough without shortness of breath. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19272144 "DO"] xref: ICD10CM:J45.991 xref: ICD9CM:493.82 is_a: DOID:0080809 ! chronic asthma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:12325 name: kyphoscoliotic heart disease xref: ICD10CM:I27.1 xref: ICD9CM:416.1 is_a: DOID:12326 ! chronic pulmonary heart disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12326 name: chronic pulmonary heart disease xref: ICD9CM:416.8 xref: RDO:9002765 is_a: DOID:8515 ! Cor pulmonale created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12328 name: marasmus def: "A protein-energy malnutrition that is characterized by severe caloric deprivation, has_symptom emaciation, decreased height and weight gain, and decreased metabolism with hypothermia, bradycardia, and constipation, and has_material_basis_in severe caloric deprivation. (DO)" [https://www.jpedhc.org/article/S0891-5245(96)90071-1/pdf "DO"] synonym: "Nutritional atrophy" EXACT [MTHICD9_2006:261] synonym: "Nutritional marasmus" EXACT [] xref: EFO:1001033 xref: ICD10CM:E41 xref: ICD9CM:261 xref: RDO:9003147 is_a: DOID:11801 ! protein-energy malnutrition created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:1233 name: transvestism def: "Disorder characterized by recurrent, intense sexually arousing fantasies, sexual urges, or behaviors involving cross-dressing in a heterosexual male. The fantasies, urges, or behaviors cause clinically significant distress or impairment in social, occupational or other areas of functioning. (from APA, DSM-IV, 1994)" [MESH:D014190] synonym: "cross dresser" EXACT [] synonym: "dual-role transvestism" EXACT [] synonym: "fetishistic transvestism" EXACT [] synonym: "Transvestic Fetishism" EXACT [] synonym: "Transvestic Fetishisms" EXACT [] synonym: "Transvestisms" EXACT [] xref: ICD10CM:F64.1 xref: ICD9CM:302.3 xref: MESH:D014190 xref: NCI:C94359 is_a: DOID:0060044 ! paraphilia disorder is_a: DOID:1235 ! fetishism [Term] id: DOID:12332 name: hematocele of tunica vaginalis testis def: "Hemorrhage into a canal or cavity of the body, such as the space covered by the serous membrane (tunica vaginalis) around the TESTIS leading to testicular hematocele or scrotal hematocele." [MESH:D006398] synonym: "hematocele" EXACT [] synonym: "hematoceles" EXACT [] synonym: "male hematocele" EXACT [] synonym: "Scrotal Hematocele" EXACT [] synonym: "scrotal hematoceles" EXACT [] synonym: "testicular hematocele" EXACT [] synonym: "testicular hematoceles" EXACT [] xref: MESH:D006398 is_a: DOID:2519 ! testicular disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:12333 name: male genital organ stricture synonym: "stricture of male genital organs" EXACT [] xref: ICD9CM:608.85 xref: RDO:9004648 is_a: DOID:48 ! male reproductive system disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:12335 name: male genital organ vascular disease synonym: "vascular disorder of male genital organs" EXACT [] xref: ICD10CM:N50.1 xref: ICD9CM:608.83 xref: RDO:9004654 is_a: DOID:178 ! vascular disease is_a: DOID:48 ! male reproductive system disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:12336 name: male infertility def: "The inability of the male to effect FERTILIZATION of an OVUM after a specified period of unprotected intercourse. Male sterility is permanent infertility." [MESH:D007248] synonym: "MALE INFERTILITY DUE TO GONADAL DYSGENESIS OR SPERM DISORDER" NARROW [] synonym: "male sterility" EXACT [] synonym: "male sub-fertility" EXACT [] synonym: "male subfertility" EXACT [] xref: EFO:0004248 xref: ICD10CM:N46 xref: ICD9CM:606 xref: MESH:D007248 is_a: DOID:48 ! male reproductive system disease is_a: DOID:5223 ! infertility [Term] id: DOID:12337 name: varicocele def: "A condition characterized by the dilated tortuous veins of the SPERMATIC CORD with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." [MESH:D014646] synonym: "scrotal varices" EXACT [] synonym: "Varicoceles" EXACT [] xref: ICD10CM:I86.1 xref: ICD9CM:456.4 xref: MESH:D014646 is_a: DOID:178 ! vascular disease is_a: DOID:48 ! male reproductive system disease is_a: DOID:9742 ! pelvic varices [Term] id: DOID:12339 name: retroperitoneal lymphoma xref: MONDO:0001499 xref: NCI:C7353 is_a: DOID:0060058 ! lymphoma is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:1234 name: gender incongruence alt_id: DOID:10919 alt_id: MIM:600952 def: "A sexual health disorder that involves a conflict between a person's actual physical gender and the gender that person identifies himself or herself as. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001527.htm "DO"] synonym: "gender identify disorder" EXACT [] synonym: "gender identity disorder" EXACT [] synonym: "transsexualism" EXACT [] synonym: "transsexuality" EXACT [] xref: EFO:0008587 xref: ICD10CM:F64.2 xref: ICD9CM:302.50 xref: ICD9CM:302.6 xref: MESH:D014189 is_a: DOID:0060043 ! sexual health disorder created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12341 name: retroperitoneal sarcoma def: "A malignant retroperitoneal cancer and sarcoma that is located_in the retroperitoneal space. (DO)" [http://en.wikipedia.org/wiki/Retroperitoneal_space "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1665230/ "DO"] xref: NCI:C4832 is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:12342 name: retroperitoneum carcinoma synonym: "carcinoma of Retroperitoneum" EXACT [] synonym: "carcinoma of the retroperitoneum" EXACT [] xref: NCI:C7352 is_a: DOID:305 ! carcinoma is_a: DOID:5875 ! retroperitoneal cancer created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:12347 name: osteogenesis imperfecta alt_id: OMIA:000754 alt_id: OMIA:002112 def: "An osteochondrodysplasia that has_material_basis_in a deficiency in type-I collagen which results_in brittle bones and defective connective tissue. (DO)" [http://en.wikipedia.org/wiki/Osteogenesis_imperfecta "DO", http://ghr.nlm.nih.gov/condition/osteogenesis-imperfecta "DO", http://orthoinfo.aaos.org/topic.cfm?topic=a00051 "DO", http://osteogenesisimperfecta.org/ "DO", http://www.niams.nih.gov/Health_Info/bone/osteogenesis_Imperfecta/ "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001573.htm "DO"] synonym: "brittle bone disease" EXACT [] synonym: "Fragilitas Ossium" EXACT [] synonym: "KIF5B-RELATED OSTEOGENESIS IMPERFECTA SYNDROME" NARROW [] synonym: "Lobstein's Disease" EXACT [] synonym: "Lobstein's syndrome" EXACT [] synonym: "Lobstein Disease" EXACT [] synonym: "Lobsteins Disease" EXACT [] synonym: "mild osteogenesis imperfecta" NARROW [] synonym: "osteogenesis imperfecta, recessive" NARROW [] synonym: "osteogenesis imperfecta with blue sclerae" EXACT [] synonym: "osteopenic nonfracture syndrome" NARROW [] synonym: "osteopsathyrosis" EXACT [] synonym: "Vrolik's disease" EXACT [] xref: GARD:1017 xref: ICD9CM:756.51 xref: MESH:D010013 xref: MIM:PS166200 xref: NCI:C26837 xref: NCI:C99003 xref: ORDO:666 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:854 ! collagen disease [Term] id: DOID:12349 name: primary eye hypotony synonym: "primary hypotony of eye" EXACT [] xref: ICD10CM:H44.44 xref: ICD9CM:360.31 xref: RDO:9004884 is_a: DOID:790 ! ocular hypotension created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:1235 name: fetishism def: "A condition in which inanimate objects are utilized as a preferred or exclusive method of stimulating erotic arousal." [MESH:D005329] synonym: "Fetishism (Psychiatric)" EXACT [] synonym: "Fetishisms (Psychiatric)" EXACT [] xref: ICD10CM:F65.0 xref: ICD9CM:302.81 xref: MESH:D005329 xref: NCI:C94353 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:12351 name: alcoholic hepatitis def: "INFLAMMATION of the LIVER due to ALCOHOL ABUSE. It is characterized by NECROSIS of HEPATOCYTES, infiltration by NEUTROPHILS, and deposit of MALLORY BODIES. Depending on its severity, the inflammatory lesion may be reversible or progress to LIVER CIRRHOSIS." [MESH:D006519] synonym: "acute alcoholic hepatitis" EXACT [] synonym: "acute alcoholic liver disease" EXACT [] synonym: "chronic alcoholic hepatitides" EXACT [] synonym: "chronic alcoholic hepatitis" EXACT [] xref: EFO:1001345 xref: ICD9CM:571.1 xref: MESH:D006519 xref: NCI:C34352 is_a: DOID:2237 ! hepatitis is_a: DOID:9001285 ! Alcoholic Liver Diseases [Term] id: DOID:12355 name: prostatocystitis xref: ICD10CM:N41.3 xref: ICD9CM:601.3 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12357 name: viral labyrinthitis def: "A labyrinthitis which involves viral infection of the inner ear through the upper airway or the blood stream. The symptoms may include hearing loss and ringing in the ears. If the virus reaches the vestibular system, dizziness, severe vertigo with nausea and vomiting, and imbalance can occur. (DO)" [http://books.google.com/books?id=uCDyjzqAL3wC&pg=PA69&lpg#v=onepage&q=&f=false "DO"] synonym: "epidemic vertigo" EXACT [] xref: ICD9CM:386.35 is_a: DOID:1468 ! labyrinthitis is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:12358 name: patulous eustachian tube def: "A eustachian tube disorder with a wider eustachian tube which allows a larger bolus of bacteria-laden material from the nasopharynx during an infection to enter the middle ear, causing a more fulminant infection. (DO)" [http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA53&lpg#v=onepage&q=&f=false "DO"] xref: GARD:10812 xref: ICD10CM:H69.0 xref: ICD9CM:381.7 xref: RDO:9003838 is_a: DOID:9739 ! eustachian tube disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12359 name: endocrine exophthalmos xref: ICD9CM:376.2 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12360 name: lateral displacement of eye synonym: "lateral displacement of globe" EXACT [] xref: ICD10CM:H05.21 xref: ICD9CM:376.36 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12361 name: Graves' disease alt_id: MIM:275000 alt_id: MIM:300351 alt_id: MIM:603372 alt_id: MIM:603388 def: "An autoimmune disease of endocrine system that involves production of excessive amount of thyroid hormones, located_in thyroid gland. (DO)" [http://en.wikipedia.org/wiki/Graves_disease "DO"] synonym: "autoimmune hyperthyroidism" EXACT [] synonym: "Basedow's disease" EXACT [] synonym: "Basedow disease" EXACT [] synonym: "Basedows disease" EXACT [] synonym: "exophthalmic goiter" EXACT [] synonym: "exophthalmic goiters" EXACT [] synonym: "Grave's disease" EXACT [] synonym: "Graves disease" EXACT [] synonym: "Graves disease, susceptibility to, 1" RELATED [] synonym: "Graves disease, susceptibility to, 2" RELATED [] synonym: "Graves disease, susceptibility to, X-linked 1" RELATED [] synonym: "Graves hyperthyroidism" EXACT [] synonym: "GRD" EXACT [] synonym: "GRD1" RELATED [] synonym: "GRD2" RELATED [] synonym: "GRDX1 GRAVES DISEASE, SUSCEPTIBILITY TO, X-LINKED 2" RELATED [] synonym: "GRDX2" RELATED [] synonym: "Hyperthyroidism, Autoimmune Graves Disease, Susceptibility To, 1" RELATED [] xref: EFO:0004237 xref: ICD10CM:E05.0 xref: MESH:D006111 xref: NCI:C3071 is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:12176 ! goiter is_a: DOID:7998 ! hyperthyroidism is_a: DOID:930 ! orbital disease [Term] id: DOID:12362 name: thyrotoxic exophthalmos xref: ICD9CM:376.21 xref: RDO:9003019 is_a: DOID:12359 ! endocrine exophthalmos created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12363 name: intermittent proptosis synonym: "intermittent exophthalmos" EXACT [] xref: ICD10CM:H05.25 xref: ICD9CM:376.34 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12364 name: pulsating exophthalmos xref: ICD10CM:H05.26 xref: ICD9CM:376.35 xref: RDO:9003029 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12365 name: malaria alt_id: MIM:609148 alt_id: MIM:611162 def: "A parasitic protozoa infectious disease characterized as a vector-borne infectious disease caused by the presence of protozoan parasites of the genus Plasmodium in the red blood cells, transmitted from an infected to an uninfected individual by the bite of anopheline mosquitoes, and characterized by periodic attacks of chills and fever that coincide with mass destruction of blood cells and the release of toxic substances by the parasite at the end of each reproductive cycle. (DO)" [http://en.wikipedia.org/wiki/Malaria "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malaria "DO"] synonym: "DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE" RELATED [] synonym: "Glycophorin C, Gerbich Variant" RELATED [] synonym: "induced malaria" EXACT [] synonym: "MALARIA, CEREBRAL, RESISTANCE TO" RELATED [] synonym: "MALARIA, CEREBRAL, SUSCEPTIBILITY TO" RELATED [] synonym: "MALARIA, MILD, SUSCEPTIBILITY TO" RELATED [] synonym: "MALARIA, RESISTANCE TO" RELATED [] synonym: "MALARIA, SEVERE, RESISTANCE TO" RELATED [] synonym: "MALARIA, SEVERE, SUSCEPTIBILITY TO" RELATED [] synonym: "MALS" EXACT [] synonym: "marsh fever" EXACT [] synonym: "paludism" EXACT [] synonym: "Plasmodium Infection" EXACT [] synonym: "Plasmodium Infections" EXACT [] synonym: "plasmodium vivax, resistance to" RELATED [] synonym: "remittent fever" EXACT [] synonym: "susceptibility to malaria" RELATED [] xref: EFO:0001068 xref: EFO:0009157 xref: GARD:6961 xref: ICD10CM:B54 xref: ICD9CM:084 xref: MESH:D008288 xref: NCI:C34797 xref: ORDO:673 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9000518 ! Parasitemia [Term] id: DOID:12369 name: prolapse of urethra def: "A prolapse of female genital organ that is characterized by the descent of the urethra from the normal anatomic location toward or through the vaginal opening. (DO)" [https://en.wikipedia.org/wiki/Urethrocele "DO"] synonym: "urethrocele" EXACT [] xref: ICD10CM:N81.0 xref: ICD9CM:618.03 xref: NCI:C123256 is_a: DOID:1284 ! prolapse of female genital organ is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1237 name: corneal degeneration xref: ICD10CM:H18.4 xref: ICD9CM:371.4 is_a: DOID:10124 ! corneal disease is_a: DOID:9799 ! eye degenerative disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12375 name: bronchopneumonia def: "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchopneumonia "DO"] synonym: "Bronchial Pneumonia" EXACT [] synonym: "Bronchial Pneumonias" EXACT [] synonym: "Bronchopneumonias" EXACT [] synonym: "chest infection - bronchopneumonia" EXACT [] synonym: "lobular pneumonia" EXACT [] xref: EFO:0007184 xref: ICD10CM:J18.0 xref: ICD9CM:485 xref: MESH:D001996 xref: NCI:C26710 is_a: DOID:1176 ! bronchial disease is_a: DOID:552 ! pneumonia [Term] id: DOID:12376 name: juvenile spinal muscular atrophy def: "A childhood spinal muscular atrophy that has age of onset after 18 months and is characterized by muscle weakness after early childhood and the ability to stand and walk and that has_material_basis_in homozygous or compound heterozygous mutation in the SMN1 gene on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO"] synonym: "juvenile muscular atrophy" EXACT [] synonym: "Kugelberg-Welander disease" EXACT [] synonym: "Kugelberg-Welander syndrome" EXACT [] synonym: "KWS" EXACT [] synonym: "SMA3" EXACT [] synonym: "SMA III" EXACT [] synonym: "spinal muscular atrophy, familial" EXACT [] synonym: "spinal muscular atrophy, mild childhood and adolescent form" EXACT [] synonym: "spinal muscular atrophy type 3" EXACT [] synonym: "spinal muscular atrophy type III" EXACT [] xref: ICD9CM:335.11 xref: MIM:253400 xref: MONDO:0009672 xref: NCI:C118847 is_a: DOID:0060160 ! childhood spinal muscular atrophy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:12377 name: spinal muscular atrophy def: "A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy. (DO)" [http://en.wikipedia.org/wiki/Spinal_muscular_atrophy "DO", https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy "DO", https://www.genome.gov/Genetic-Disorders/Spinal-Muscular-Atrophy "DO", https://www.ncbi.nlm.nih.gov/pubmed/26022173 "DO"] synonym: "adult onset spinal muscular atrophy" EXACT [] synonym: "bulbospinal neuronopathies" EXACT [] synonym: "bulbospinal neuronopathy" EXACT [] synonym: "distal spinal muscular atrophy" EXACT [] synonym: "hereditary motor neuronopathies" EXACT [] synonym: "hereditary motor neuronopathy" EXACT [] synonym: "myelopathic muscular atrophy" EXACT [] synonym: "oculopharyngeal spinal muscular atrophy" EXACT [] synonym: "progressive myelopathic muscular atrophy" EXACT [] synonym: "progressive proximal myelopathic muscular atrophy" EXACT [] synonym: "proximal spinal muscular atrophy" NARROW [] synonym: "spinal amyotrophies" EXACT [] synonym: "spinal amyotrophy" EXACT [] synonym: "spinal muscular atrophy, dominant" NARROW [] xref: EFO:0003823 xref: EFO:0008525 xref: GARD:7674 xref: ICD10CM:G12.9 xref: ICD9CM:335.1 xref: MESH:D009134 xref: NCI:C85075 is_a: DOID:231 ! motor neuron disease is_a: DOID:319 ! spinal cord disease [Term] id: DOID:12382 name: complex partial epilepsy def: "A disorder characterized by recurrent partial seizures marked by impairment of cognition. During the seizure the individual may experience a wide variety of psychic phenomenon including formed hallucinations, illusions, deja vu, intense emotional feelings, confusion, and spatial disorientation. Focal motor activity, sensory alterations and AUTOMATISM may also occur. Complex partial seizures often originate from foci in one or both temporal lobes. The etiology may be idiopathic (cryptogenic partial complex epilepsy) or occur as a secondary manifestation of a focal cortical lesion (symptomatic partial complex epilepsy). (From Adams et al., Principles of Neurology, 6th ed, pp317-8)" [MESH:D017029] synonym: "complex partial epileptic seizure" EXACT [] synonym: "complex partial seizure disorder" EXACT [] synonym: "cryptogenic partial complex epilepsy" EXACT [] synonym: "Disorder, Complex Partial Seizures" EXACT [] synonym: "Psychic Equivalent Epilepsy" EXACT [] synonym: "psychomotor epilepsy" EXACT [] synonym: "symptomatic partial complex epilepsy" EXACT [] xref: EFO:1000877 xref: MESH:D017029 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:12384 name: dysentery def: "An intestinal infectious disease that involves inflammation of the intestines, especially colon, due to chemical irritants, bacteria, protozoa, or parasitic worms, which results in severe diarrhea with passage of mucus and blood. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO", http://en.wikipedia.org/wiki/Dysentery "DO", http://www.who.int/topics/dysentery/en/ "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=dysentery "DO"] synonym: "Infectious diarrhea" EXACT [] synonym: "infectious diarrheal disease" EXACT [] synonym: "infectious diarrheal diseases" EXACT [] xref: EFO:1001869 xref: ICD9CM:009.2 xref: MESH:D004403 is_a: DOID:100 ! intestinal infectious disease is_a: DOID:2326 ! gastroenteritis [Term] id: DOID:12385 name: shigellosis def: "A primary bacterial infectious disease that results_in infection located_in epithelium of colon, has_material_basis_in Shigella boydii, has_material_basis_in Shigella dysenteriae, has_material_basis_in Shigella flexneri, or has_material_basis_in Shigella sonnei, which produce toxins that can attack the lining of the large intestine, causing swelling, ulcers on the intestinal wall, and bloody diarrhea. The bacteria are transmitted_by ingestion of food and water contaminated with feces. (DO)" [http://www.merck.com/mmpe/sec14/ch173/ch173q.html?qt=shigellosis&alt=sh "DO"] synonym: "Bacillary Dysentery" EXACT [] synonym: "Dysentery, Shigella dysenteriae type 1" EXACT [] synonym: "Shiga bacillus Dysentery" EXACT [] synonym: "Shigella boydii dysenteries" EXACT [] synonym: "Shigella boydii Dysentery" EXACT [] synonym: "Shigella boydii infectious disease" EXACT [] synonym: "Shigella dysenteriae Dysenteries" EXACT [] synonym: "Shigella dysenteriae Dysentery" EXACT [] synonym: "Shigella Dysenteries" EXACT [] synonym: "Shigella Dysentery" EXACT [] synonym: "Shigella flexneri Dysenteries" EXACT [] synonym: "Shigella flexneri Dysentery" EXACT [] synonym: "Shigella flexneri infectious disease" EXACT [] synonym: "Shigella gastroenteritis" EXACT [] synonym: "Shigella sonnei Dysenteries" EXACT [] synonym: "Shigella sonnei dysentery" EXACT [] synonym: "Shigella sonnei infectious disease" EXACT [] xref: EFO:0005585 xref: GARD:4818 xref: ICD10CM:A03 xref: ICD10CM:A03.0 xref: ICD10CM:A03.1 xref: ICD10CM:A03.2 xref: ICD9CM:004 xref: ICD9CM:004.0 xref: ICD9CM:004.1 xref: ICD9CM:004.2 xref: MESH:D004405 xref: NCI:C157978 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:12384 ! dysentery is_a: DOID:5353 ! colonic disease is_a: DOID:9003491 ! Enterobacteriaceae Infections [Term] id: DOID:12386 name: balantidiasis def: "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14760781 "DO"] synonym: "Balantidiases" EXACT [] synonym: "Balantidiosis" EXACT [] synonym: "Balantidium coli infection" EXACT [] synonym: "B coli infection" EXACT [] synonym: "human balantidiasis" NARROW [] synonym: "large-intestinal infection with Balantidium coli" EXACT [] xref: EFO:0007163 xref: GARD:809 xref: ICD10CM:A07.0 xref: ICD9CM:007.0 xref: MESH:D001447 xref: NCI:C84583 is_a: DOID:9002892 ! Parasitic Intestinal Diseases is_a: DOID:9006772 ! Ciliophora Infections [Term] id: DOID:12387 name: nephrogenic diabetes insipidus def: "A diabetes insipidus that is characterized by a complete or partial resistance of the kidneys to vasopressin (ADH). (DO)" [http://en.wikipedia.org/wiki/Nephrogenic_diabetes_insipidus "DO", http://ghr.nlm.nih.gov/condition/nephrogenic-diabetes-insipidus "DO", https://medlineplus.gov/ency/article/000511.htm "DO"] synonym: "acquired nephrogenic diabetes insipidus" EXACT [] synonym: "ADH-Resistant Diabetes Insipidus" EXACT [] synonym: "Congenital Nephrogenic Diabetes Insipidus" EXACT [] synonym: "DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL DOMINANT" NARROW [] synonym: "DIABETES INSIPIDUS, NEPHROGENIC, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Diabetes Insipidus Renalis" EXACT [] synonym: "NDI" EXACT [] synonym: "vasopressin-resistant diabetes insipidus" EXACT [] xref: GARD:7178 xref: ICD10CM:N25.1 xref: ICD9CM:588.1 xref: MESH:D018500 xref: NCI:C84919 xref: ORDO:223 is_a: DOID:557 ! kidney disease is_a: DOID:9409 ! diabetes insipidus [Term] id: DOID:12388 name: neurohypophyseal diabetes insipidus alt_id: MIM:125700 def: "A central diabetes insipidus that is characterized by polyuria and polydipsia due to a deficiency in vasopressin synthesis and that has_material_basis_in heterozygous mutation in the arginine vasopressin gene (AVP) on chromosome 20p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15070970/ "DO"] synonym: "CDI" EXACT [] synonym: "Diabetes Insipidus Cranial Type" EXACT [] synonym: "DIABETES INSIPIDUS, NEUROHYPOPHYSEAL, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Diabetes Insipidus, Neurohypophyseal Type" EXACT [] synonym: "Diabetes Insipidus Primary Central" EXACT [] synonym: "Diabetes Insipidus Secondary To Vasopressin Deficiency" EXACT [] synonym: "Neurogenic Diabetes Insipidus" EXACT [] synonym: "Pituitary Diabetes Insipidus" EXACT [] synonym: "Vasopressin Defective Diabetes Insipidus" EXACT [] synonym: "vasopressin deficiency" EXACT [] xref: MESH:D020790 xref: NCI:C84933 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081055 ! central diabetes insipidus is_a: DOID:26 ! pancreas disease [Term] id: DOID:12395 name: spastic entropion xref: ICD9CM:374.03 is_a: DOID:12397 ! entropion [Term] id: DOID:12397 name: entropion def: "The turning inward (inversion) of the edge of the eyelid, with the tarsal cartilage turned inward toward the eyeball. (Dorland, 27th ed)" [] synonym: "Entropions" EXACT [] xref: ICD9CM:374.00 xref: MESH:D004774 is_a: DOID:530 ! eyelid disease [Term] id: DOID:12399 name: pathological gambling alt_id: MIM:606349 def: "An impulse control disorder that involves the uncontrollable impulse to gamble, irrespective of the interference the behaviour has on the individual's life. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3004711/ "DO"] synonym: "compulsive gambling" EXACT [] synonym: "gambling" EXACT [] synonym: "pathologic gambling" EXACT [] xref: EFO:0004699 xref: EFO:1001926 xref: ICD10CM:F63.0 xref: ICD9CM:312.31 xref: MESH:D005715 xref: NCI:C94335 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:1240 name: leukemia def: "A cancer that affects the blood or bone marrow characterized by an abnormal proliferation of blood cells. (DO)" [http://en.wikipedia.org/wiki/Leukemia "DO", http://www.cancer.gov/dictionary?CdrID=45343 "DO"] synonym: "EFO:0000565" EXACT [] synonym: "leucocythaemia" EXACT [] synonym: "leucocythaemias" EXACT [] synonym: "Leucocythemia" EXACT [] synonym: "leucocythemias" EXACT [] synonym: "Leukemia, post-chemotherapy, susceptibility to" RELATED [] synonym: "leukemias" EXACT [] xref: EFO:0000565 xref: ICD10CM:C95.90 xref: ICD9CM:208 xref: ICDO:9800/3 xref: MESH:D007938 xref: NCI:C128120 xref: NCI:C141365 xref: NCI:C21604 xref: NCI:C3161 xref: NCI:C60428 is_a: DOID:2531 ! hematologic cancer is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:12400 name: kleptomania def: "An impulse control disorder that involves the repeated impulse to steal for no great gain, when he or she has sufficient money to pay for the item and no need for what is stolen. (DO)" [https://en.wikipedia.org/wiki/Kleptomania "DO"] synonym: "pathological stealing" EXACT [] xref: ICD10CM:F63.2 xref: ICD9CM:312.32 xref: NCI:C94333 is_a: DOID:10937 ! impulse control disorder created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12401 name: intermittent explosive disorder def: "An impulse control disorder that involves the episodic inability to control violent impulses with a disproportionate degree of aggressiveness. (DO)" [https://en.wikipedia.org/wiki/Intermittent_explosive_disorder "DO"] synonym: "explosive personality disorder" EXACT [] xref: ICD10CM:F63.81 xref: ICD9CM:301.3 xref: ICD9CM:312.34 xref: NCI:C94332 is_a: DOID:10937 ! impulse control disorder created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12402 name: pyromania def: "An impulse control disorder that involves the uncontrollable impulse to repeatedly set fires with no obvious motive. (DO)" [https://en.wikipedia.org/wiki/Pyromania "DO"] synonym: "arson" EXACT [] synonym: "arsons" EXACT [] synonym: "firesetting behavior" EXACT [] synonym: "firesetting behaviors" EXACT [] synonym: "pathological firesetting" EXACT [] synonym: "pyromanias" EXACT [] xref: ICD10CM:F63.1 xref: ICD9CM:312.33 xref: MESH:D005391 xref: NCI:C94334 is_a: DOID:10937 ! impulse control disorder [Term] id: DOID:12403 name: tinea pedis def: "A dermatophytosis that results_in fungal infection located_in skin of foot, especially between the toes, has_material_basis_in Trichophyton or has_material_basis_in Epidermophyton and has_symptom fissures, has_symptom scaling, has_symptom maceration, and eroded areas between the toes and on the plantar surface of the foot. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=athlete%27s%20foot "DO"] synonym: "athlete's foot" EXACT [] synonym: "athlete foot" EXACT [] synonym: "athletes foot" EXACT [] synonym: "dermatophytosis of foot" EXACT [] synonym: "ringworm of foot" EXACT [] xref: EFO:0007512 xref: ICD10CM:B35.3 xref: ICD9CM:110.4 xref: MESH:D014008 is_a: DOID:8913 ! dermatophytosis is_a: DOID:9003842 ! Foot Dermatoses is_a: DOID:9006202 ! Pruritus [Term] id: DOID:1241 name: luxation of globe synonym: "Luxation of eye" EXACT [SNOMEDCT_2005_07_31:20842008] xref: ICD10CM:H44.82 xref: ICD9CM:360.81 xref: RDO:9003052 is_a: DOID:1242 ! globe disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1242 name: globe disease def: "An eye disease that involves the globe of the eye. (DO)" [https://en.wikipedia.org/wiki/Globe_(human_eye) "DO"] xref: EFO:0003966 xref: ICD10CM:H44.39 xref: ICD9CM:360.29 is_a: DOID:5614 ! eye disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12424 name: thyrocalcitonin secretion disease synonym: "disorder of thyrocalcitonin secretion" EXACT [] xref: ICD9CM:246.0 xref: RDO:9004420 is_a: DOID:50 ! thyroid gland disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:1243 name: labia minora cancer def: "A vulva cancer that is located_in the labium minora. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13103721 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24113413 "DO"] synonym: "malignant neoplasm of labia minora" EXACT [] synonym: "malignant neoplasm of labium minus" EXACT [] synonym: "malignant tumor of labia minora" EXACT [] xref: ICD10CM:C51.1 xref: ICD9CM:184.2 xref: NCI:C7637 is_a: DOID:1245 ! vulva cancer is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12445 name: conjugate gaze palsy synonym: "palsy of conjugate gaze" EXACT [] xref: ICD9CM:378.81 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12449 name: aplastic anemia def: "A normocytic anemia that is characterized by a deficiency of red blood cells, white blood cells and platelets produced by bone marrow. (DO)" [http://en.wikipedia.org/wiki/Aplastic_anemia "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/aplastic/ "DO"] synonym: "acquired aplastic anemia" NARROW [] synonym: "aplastic anemias" EXACT [] synonym: "APLASTIC ANEMIA, SUSCEPTIBILITY TO" RELATED [] synonym: "hypoplastic anemia" EXACT [] synonym: "hypoplastic anemias" EXACT [] synonym: "INHERITED APLASTIC ANEMIA" NARROW [] synonym: "severe aplastic anemia" NARROW [] xref: EFO:0006926 xref: EFO:0006927 xref: GARD:5836 xref: ICD10CM:D61.9 xref: ICD9CM:284.9 xref: MESH:D000741 xref: MIM:609135 xref: MONDO:0015909 xref: NCI:C2870 xref: ORDO:182040 is_a: DOID:720 ! normocytic anemia is_a: DOID:9007222 ! Bone Marrow Failure Disorders [Term] id: DOID:1245 name: vulva cancer def: "A female reproductive organ cancer that is located_in the vulva. (DO)" [https://en.wikipedia.org/wiki/Vulvar_cancer "DO"] synonym: "cancer of the vulva" EXACT [] synonym: "cancer of vulva" EXACT [] synonym: "Ca vulva" EXACT [] synonym: "malignant neoplasm of vulva" EXACT [] synonym: "malignant tumor of vulva" EXACT [] synonym: "malignant vulvar tumor" EXACT [] synonym: "vulva cancers" EXACT [] synonym: "vulval cancer" EXACT [] synonym: "vulvar cancer" EXACT [] synonym: "vulvar cancers" EXACT [] xref: GARD:9349 xref: ICD10CM:C51 xref: ICD9CM:184.4 xref: NCI:C7502 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:9005804 ! Vulvar Neoplasms created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:12450 name: pancytopenia def: "An anemia that is characterized by a reduction in the number of red blood cells, white blood cells, and platelets. (DO)" [https://en.wikipedia.org/wiki/Pancytopenia "DO"] synonym: "pancytopenias" EXACT [] xref: ICD10CM:D61.81 xref: ICD9CM:284.1 xref: MESH:D010198 xref: NCI:C34889 xref: NCI:C80693 is_a: DOID:2355 ! anemia is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:12451 name: sulfhemoglobinemia def: "A morbid condition due to the presence of sulfmethemoglobin in the blood. It is marked by persistent cyanosis, but the blood count does not reveal any special abnormality in the blood. It is thought to be caused by the action of hydrogen sulfide absorbed from the intestine. (Stedman, 25th ed)" [MESH:D013436] synonym: "sulfemoglobinemia" EXACT [] synonym: "sulfhemoglobinemias" EXACT [] xref: EFO:1001200 xref: MESH:D013436 is_a: DOID:620 ! blood protein disease is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:12465 name: secondary hyperparathyroidism of renal origin synonym: "hyperparathyroidism due to renal insufficiency" EXACT [SNOMEDCT_2005_07_31:19034001] xref: ICD10CM:N25.81 xref: ICD9CM:588.81 is_a: DOID:12466 ! secondary hyperparathyroidism is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:12466 name: secondary hyperparathyroidism def: "Abnormally elevated PARATHYROID HORMONE secretion as a response to HYPOCALCEMIA. It is caused by chronic KIDNEY FAILURE or other abnormalities in the controls of bone and mineral metabolism, leading to various BONE DISEASES, such as RENAL OSTEODYSTROPHY." [MESH:D006962] synonym: "secondary hyperparathyroidisms" EXACT [] xref: EFO:1001173 xref: MESH:D006962 xref: NCI:C113335 is_a: DOID:13543 ! hyperparathyroidism [Term] id: DOID:1247 name: blood coagulation disease alt_id: DOID:2212 def: "A hematopoietic system disease that is characterized by abnormal blood clotting or bleeding. (DO)" [https://www.cedars-sinai.edu/Patients/Health-Conditions/Coagulation-System-Disorders.aspx "DO"] synonym: "ABNORMALITY OF COAGULATION" EXACT [] synonym: "blood coagulation disorder" EXACT [] synonym: "blood coagulation disorders" EXACT [] synonym: "FIBRINOGEN MILANO XII, DIGENIC" RELATED [] synonym: "postpartum coagulation defect" EXACT [] synonym: "postpartum coagulation defect with delivery" EXACT [] synonym: "protein Z deficiency" NARROW [] xref: EFO:0009314 xref: ICD10CM:D68.9 xref: ICD9CM:286 xref: MESH:D001778 xref: NCI:C2902 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:12474 name: capillariasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, liver and lungs caused by Capillaria species. (DO)" [https://en.wikipedia.org/wiki/Capillariasis "DO"] synonym: "capillaria infection" EXACT [] xref: ICD10CM:B81.1 xref: ICD9CM:127.5 is_a: DOID:409 ! liver disease is_a: DOID:5295 ! intestinal disease is_a: DOID:850 ! lung disease is_a: DOID:9002992 ! Nematode Infections created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:12475 name: pes anserinus tendinitis or bursitis xref: ICD9CM:726.61 is_a: DOID:204 ! enthesopathy created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:1248 name: ocular hyperemia synonym: "hyperemia eye" EXACT [] synonym: "hyperemia of conjunctiva" EXACT [] is_a: DOID:4251 ! conjunctival disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12491 name: Vagus nerve disease def: "Diseases of the tenth cranial nerve, including brain stem lesions involving its nuclei (solitary, ambiguus, and dorsal motor), nerve fascicles, and intracranial and extracranial course. Clinical manifestations may include dysphagia, vocal cord weakness, and alterations of parasympathetic tone in the thorax and abdomen." [MESH:D020421] synonym: "Cranial Nerve X Diseases" EXACT [] synonym: "disorder of pneumogastric [10th] nerve" EXACT [ICD9CM_2006:352.3] synonym: "disorder of vagal nerve" EXACT [MTHICD9_2006:352.3] synonym: "disorder of vagus nerve" EXACT [SNOMEDCT_2005_07_31:73765005] synonym: "Pneumogastric Nerve Disorder" EXACT [] synonym: "Pneumogastric Nerve Disorders" EXACT [] synonym: "Tenth Cranial Nerve Diseases" EXACT [] synonym: "Vagus nerve diseases" EXACT [] synonym: "Vagus Nerve Disorder" EXACT [] synonym: "Vagus Nerve Disorders" EXACT [] synonym: "Vagus Nerve Motor Disorder" EXACT [] synonym: "Vagus Nerve Sensory Disorder" EXACT [] synonym: "Vagus Neuropathies" EXACT [] synonym: "Vagus Neuropathy" EXACT [] xref: ICD10CM:G52.2 xref: ICD9CM:352.3 xref: MESH:D020421 xref: NCI:C27591 xref: RDO:0006815 is_a: DOID:3418 ! glossopharyngeal nerve disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:125 name: vagina leiomyoma def: "A vaginal benign neoplasm that is a benign tumor of smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25672089 "DO"] synonym: "leiomyoma of vagina" EXACT [] xref: NCI:C6373 is_a: DOID:0060114 ! vaginal benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12506 name: Bell's palsy def: "A facial paralysis resulting from dysfunction in the cranial nerve VII (facial nerve). (DO)" [http://en.wikipedia.org/wiki/Bell%27s_palsy "DO"] synonym: "acute idiopathic facial neuropathy" EXACT [] synonym: "Acute Inflammatory Facial Neuropathy" EXACT [] synonym: "Bell's (facial) palsy" EXACT [] synonym: "Bell's Palsies" EXACT [] synonym: "Bell palsies" EXACT [] synonym: "Bell palsy" EXACT [] synonym: "Bells Palsy" EXACT [] synonym: "Herpetic Facial Paralyses" EXACT [] synonym: "Herpetic Facial Paralysis" EXACT [] synonym: "idiopathic facial paralyses" EXACT [] synonym: "idiopathic facial paralysis" EXACT [] xref: EFO:0007167 xref: GARD:5906 xref: ICD9CM:351.0 xref: MESH:D020330 is_a: DOID:13934 ! facial paralysis is_a: DOID:1756 ! facial nerve disease is_a: DOID:225 ! syndrome is_a: DOID:9002834 ! Herpesviridae Infections [Term] id: DOID:1251 name: tuberculous epididymitis def: "An urogenital tuberculosis that is located_in epididymis, has_symptom pain and has_symptom scrotal swelling. (DO)" [http://www.nature.com/aja/journal/v7/n3/abs/aja200560a.html "DO"] xref: ICD9CM:016.4 is_a: DOID:2149 ! urogenital tuberculosis is_a: DOID:9402 ! epididymitis [Term] id: DOID:12510 name: retinal ischemia def: "An ischemia that is characterized by restriction in blood supply to the retina. (DO)" [http://www.med.umich.edu/1libr/Ophthalmology/Retina/RetinalIschemia.pdf "DO", https://en.wikipedia.org/wiki/Ocular_ischemic_syndrome "DO"] xref: ICD10CM:H35.82 xref: ICD9CM:362.84 xref: RDO:9000523 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:326 ! ischemia [Term] id: DOID:12514 name: retinal perforation alt_id: RDO:0006479 def: "Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes." [] synonym: "Retinal Break" EXACT [] synonym: "retinal breaks" EXACT [] synonym: "Retinal Dialyse" EXACT [] synonym: "Retinal Dialyses" EXACT [] synonym: "Retinal dialysis" EXACT [SNOMEDCT_2005_07_31:232003005] synonym: "Retinal Hole" EXACT [] synonym: "Retinal Holes" EXACT [] synonym: "Retinal Perforations" EXACT [] synonym: "Retinal Tear" EXACT [] synonym: "retinal tears" EXACT [] xref: EFO:0010698 xref: MESH:D012167 xref: NCI:C50732 is_a: DOID:5327 ! retinal detachment is_a: DOID:5679 ! retinal disease [Term] id: DOID:1252 name: trichuriasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection located_in intestine in humans, has_material_basis_in Trichuris trichiura, which is transmitted_by ingestion of food contaminated with egg-carrying soil. The infection has_symptom abdominal pain, has_symptom diarrhea, has_symptom rectal prolapse and has_symptom growth retardation. (DO)" [http://en.wikipedia.org/wiki/Trichuriasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Trichuriasis.htm "DO"] synonym: "infection by Trichuris trichura" EXACT [] synonym: "trichocephaliases" EXACT [] synonym: "Trichocephaliasis" EXACT [] synonym: "Trichuriases" EXACT [] synonym: "Trichuriasis infection" EXACT [] synonym: "trichuris trichiura infection" EXACT [] synonym: "whipworm disease" EXACT [] xref: EFO:0007524 xref: GARD:10720 xref: MESH:D014257 xref: NCI:C128399 is_a: DOID:5295 ! intestinal disease is_a: DOID:9004683 ! Enoplida Infections [Term] id: DOID:12522 name: bagassosis def: "An extrinsic allergic alveolitis that is an industrial disease characterized by cough, difficult breathing, chills, fever, and prolonged weakness caused by the inhalation of the dust of bagasse containing thermophilic actinomycetes. (DO)" [http://www.merriam-webster.com/medical/bagassosis "DO"] synonym: "sugar cane worker pneumonitis" EXACT [] xref: ICD10CM:J67.1 xref: ICD9CM:495.1 xref: NCI:C34409 is_a: DOID:10316 ! pneumoconiosis is_a: DOID:841 ! extrinsic allergic alveolitis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:12524 name: plantar nerve lesion synonym: "lesion of plantar nerve" EXACT [] xref: ICD10CM:G57.6 xref: ICD9CM:355.6 is_a: DOID:1187 ! tibial neuropathy is_a: DOID:9473 ! mononeuritis of lower limb created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12526 name: tarsal tunnel syndrome def: "Entrapment of the distal branches of the posterior TIBIAL NERVE (which divides into the medial plantar, lateral plantar, and calcanial nerves) in the tarsal tunnel, which lies posterior to the internal malleolus and beneath the retinaculum of the flexor muscles of the foot. Symptoms include ankle pain radiating into the foot which tends to be aggravated by walking. Examination may reveal Tinel's sign (radiating pain following nerve percussion) over the tibial nerve at the ankle, weakness and atrophy of the small foot muscles, or loss of sensation in the foot. (From Foot Ankle 1990;11(1):47-52)" [MESH:D013641] synonym: "Posterior Tibial Nerve Neuralgia" EXACT [] synonym: "Tarsal Tunnel Entrapment Neuropathy" EXACT [] synonym: "Tarsal Tunnel Syndromes" EXACT [] synonym: "Tarsal Tunnel Tibial Neuropathy" EXACT [] xref: EFO:1001208 xref: GARD:7733 xref: ICD10CM:G57.5 xref: ICD9CM:355.5 xref: MESH:D013641 xref: NCI:C85183 xref: RDO:0006673 is_a: DOID:1187 ! tibial neuropathy is_a: DOID:573 ! nerve compression syndrome [Term] id: DOID:12527 name: common peroneal nerve lesion xref: ICD10CM:G57.3 xref: ICD9CM:355.3 is_a: DOID:6925 ! peroneal nerve paralysis is_a: DOID:9473 ! mononeuritis of lower limb created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12528 name: lesion of sciatic nerve synonym: "sciatic nerve lesion" EXACT [] synonym: "sciatic nerve lesions" EXACT [] xref: ICD10CM:G57.0 xref: ICD9CM:355.0 is_a: DOID:9473 ! mononeuritis of lower limb created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12529 name: tibial nerve palsy is_a: DOID:1187 ! tibial neuropathy is_a: DOID:9473 ! mononeuritis of lower limb created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12531 name: von Willebrand's disease def: "A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. (DO)" [http://en.wikipedia.org/wiki/Von_Willebrand_disease "DO", http://ghr.nlm.nih.gov/condition/von-willebrand-disease "DO"] synonym: "Angiohemophilia" EXACT [] synonym: "angiohemophilias" EXACT [] synonym: "HEREDITARY VON WILLEBRAND DISEASE" EXACT [] synonym: "Vascular Hemophilia" EXACT [] synonym: "Vascular Hemophilias" EXACT [] synonym: "Vascular Pseudohemophilia" EXACT [] synonym: "Vascular Pseudohemophilias" EXACT [] synonym: "von Willebrand's Diseases" EXACT [] synonym: "von Willebrand's factor deficiency" EXACT [] synonym: "von Willebrand's-Jurgens' disease" EXACT [] synonym: "von Willebrand Disease" EXACT [] synonym: "von Willebrand Disease, Recessive Form" EXACT [] synonym: "von Willebrand diseases" EXACT [] synonym: "Von Willebrand Disorder" EXACT [] synonym: "von Willebrand-Jrgens disease" EXACT [] xref: EFO:0003910 xref: GARD:7867 xref: ICD10CM:D68.0 xref: ICD9CM:286.4 xref: MESH:D014842 xref: MONDO:0019565 xref: NCI:C68677 is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:12537 name: hypermobility of coccyx synonym: "coccygeal hypermobility syndrome" EXACT [] synonym: "hypermobility of the coccyx" EXACT [] xref: ICD9CM:724.71 xref: RDO:9003750 is_a: DOID:1123 ! spondyloarthropathy created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1254 name: trichostrongylosis def: "A trichostrongyloidiasis that involves infection of the small intestine with Trichostrongylus colubriformis or Trichostrongylus axei, which results in abdominal pain, diarrhea, anorexia, headache, fatigue, anemia and eosinophilia. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Trichostrongylosis.htm "DO"] synonym: "infection by Trichostrongylus" EXACT [] synonym: "infection by Trichostrongylus species" EXACT [] synonym: "trichostrongyliasis" EXACT [] synonym: "Trichostrongyloses" EXACT [] xref: EFO:0007523 xref: ICD10CM:B81.2 xref: ICD9CM:127.6 xref: MESH:D014253 is_a: DOID:1255 ! trichostrongyloidiasis [Term] id: DOID:12546 name: atrophic nonflaccid tympanic membrane xref: ICD10CM:H73.82 xref: ICD9CM:384.82 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:12549 name: hepatitis A def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis A virus, which is transmitted_by ingestion of contaminated food or water, or transmitted_by direct contact with an infected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. (DO)" [http://www.cdc.gov/hepatitis/HAV/index.htm "DO", http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf "DO"] synonym: "Infectious Hepatitides" EXACT [] synonym: "Infectious Hepatitis" EXACT [] synonym: "Viral hepatitis A" RELATED [] synonym: "viral hepatitis, type A" EXACT [] xref: EFO:0007305 xref: MESH:D006506 xref: NCI:C3096 is_a: DOID:9006549 ! Enterovirus Infections is_a: DOID:9007329 ! Human Viral Hepatitis [Term] id: DOID:1255 name: trichostrongyloidiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by nematodes of the superfamily Trichostrongyloidea. (DO)" [http://en.wikipedia.org/wiki/Strongylida "DO"] synonym: "trichostrongyloidiases" EXACT [] xref: EFO:0007522 xref: MESH:D014252 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9003369 ! Strongylida Infections [Term] id: DOID:12550 name: hepatic coma synonym: "hepatic comas" EXACT [] synonym: "Hepatocerebral intoxication" EXACT [MTHICD9_2006:572.2] xref: ICD10CM:K72.91 xref: RDO:9004030 is_a: DOID:13413 ! hepatic encephalopathy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12554 name: hemolytic-uremic syndrome def: "A kidney disease that is characterized by hemolytic anemia, thrombocytopenia, and renal failure caused by platelet thrombi in the microcirculation of the kidney and other organs. (DO)" [https://en.wikipedia.org/wiki/Hemolytic-uremic_syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1367/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15728781 "DO"] synonym: "familial hemolytic uremic syndrome" NARROW [] synonym: "Gasser's syndrome" EXACT [] synonym: "Gassers Syndrome" EXACT [] synonym: "Gasser syndrome" EXACT [] synonym: "haemolytic-uraemic syndrome" EXACT [] synonym: "sporadic hemolytic uremic syndrome" NARROW [] synonym: "typical hemolytic uremic syndrome" EXACT [] xref: GARD:6588 xref: ICD10CM:D59.3 xref: ICD9CM:283.11 xref: MESH:D006463 xref: MIM:PS235400 xref: NCI:C75545 is_a: DOID:225 ! syndrome is_a: DOID:4676 ! uremia is_a: DOID:583 ! hemolytic anemia is_a: DOID:9000326 ! Thrombotic Microangiopathies [Term] id: DOID:12556 name: acute kidney tubular necrosis def: "An acute kidney failure that is characterized by necrosis of epithelial tubule cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1904420/ "DO"] synonym: "acute renal failure with lesion of tubular necrosis" EXACT [] synonym: "acute renal failure with tubular necrosis" EXACT [] synonym: "acute tubular necrosis" EXACT [] synonym: "acute tubule necrosis" EXACT [] synonym: "ATN - acute tubular necrosis" EXACT [] synonym: "Lower Nephron Nephroses" EXACT [] synonym: "Lower Nephron Nephrosis" EXACT [] xref: EFO:1000794 xref: ICD10CM:N17.0 xref: MESH:D007683 xref: NCI:C34749 is_a: DOID:3021 ! acute kidney failure [Term] id: DOID:12557 name: Duane retraction syndrome def: "A syndrome characterized by marked limitation of abduction of the eye, variable limitation of adduction and retraction of the globe, and narrowing of the palpebral fissure on attempted adduction. The condition is caused by aberrant innervation of the lateral rectus by fibers of the OCULOMOTOR NERVE." [MESH:D004370] synonym: "Acrorenoocular Syndrome" EXACT [] synonym: "acrorenoocular syndromes" EXACT [] synonym: "Co Contractive Retraction Syndrome" EXACT [] synonym: "co-contractive retraction syndromes" EXACT [] synonym: "DRRS" EXACT [] synonym: "DRS" EXACT [] synonym: "Duane's Syndrome" EXACT [] synonym: "Duane Anomaly" EXACT [] synonym: "Duane Anomaly with Radial Abnormalities and Deafness" EXACT [] synonym: "Duanes Syndrome" EXACT [] synonym: "Duane Syndrome" EXACT [] synonym: "DUS" EXACT [] synonym: "isolated Duane anomalies" EXACT [] synonym: "Isolated Duane Anomaly" EXACT [] synonym: "Isolated Duane Retraction Syndrome" EXACT [] synonym: "Ocular Retraction Syndrome" EXACT [] synonym: "Ocular Retraction Syndromes" EXACT [] synonym: "retraction syndrome" EXACT [] synonym: "retraction syndromes" EXACT [] synonym: "Stilling Turk Duane syndrome" EXACT [] synonym: "Stilling-Turk-Duane syndromes" EXACT [] xref: ICD10CM:H50.81 xref: ICD9CM:378.71 xref: MESH:D004370 xref: MIM:PS126800 xref: MONDO:0007473 xref: NCI:C84678 xref: ORDO:233 is_a: DOID:1279 ! ocular motility disease is_a: DOID:225 ! syndrome is_a: DOID:540 ! strabismus is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:12558 name: chronic progressive external ophthalmoplegia def: "A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)" [MESH:D017246] synonym: "chronic progressive external ophthalmoplegia with myopathy, somatic" NARROW [] synonym: "CPEO" EXACT [] synonym: "Graefe's Disease" EXACT [] synonym: "Graefe Disease" EXACT [] synonym: "Mitochondrial Ocular Myopathy" EXACT [] synonym: "Ocular Muscular Dystrophies" EXACT [] synonym: "Ocular Muscular Dystrophy" EXACT [] synonym: "Ocular Myopathy of Von Graefe Fuchs" EXACT [] synonym: "Progressive external ophthalmoplegia" EXACT [] synonym: "progressive external ophthalmoplegia, proximal myopathy, and sudden death" RELATED [] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions" NARROW [] xref: EFO:0002509 xref: GARD:4503 xref: ICD10CM:H49.4 xref: ICD9CM:378.72 xref: MESH:D017246 xref: MIM:PS157640 is_a: DOID:539 ! ophthalmoplegia is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:12559 name: idiopathic juvenile osteoporosis alt_id: MIM:259750 alt_id: RDO:0003582 def: "An osteoporosis with no known cause that is characterized by pain in the back and extremities, walking difficulties, multiple fractures, and radiological evidence of osteoporosis. (DO)" [http://www.niams.nih.gov/Health_Info/Bone/Bone_Health/Juvenile/juvenile_osteoporosis.asp#b "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=85193 "DO"] synonym: "childhood-onset primary osteoporosis" EXACT [] synonym: "idiopathic osteoporosis" EXACT [] synonym: "juvenile osteoporosis" EXACT [] synonym: "juvenile primary osteoporosis" EXACT [] xref: ICD9CM:733.02 xref: MESH:C537700 is_a: DOID:11476 ! osteoporosis [Term] id: DOID:12566 name: ulceration of vulva def: "A vulvar disease that is characterized by the presence of ulcers. (DO)" [https://www.dermnetnz.org/topics/differential-diagnosis-of-vulval-ulcers/ "DO"] xref: ICD10CM:N77.0 xref: ICD9CM:616.51 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:12568 name: dyscalculia def: "A learning disability involving a math disability can cause such difficulties as learning math concepts (such as quantity, place value, and time), difficulty memorizing math facts, difficulty organizing numbers, and understanding how problems are organized on the page. (DO)" [http://en.wikipedia.org/wiki/Learning_disability#Types_of_learning_disabilities "DO"] synonym: "Acalculia" EXACT [] synonym: "acalculias" EXACT [] synonym: "Acquired Dyscalculia" EXACT [] synonym: "Acquired Dyscalculias" EXACT [] synonym: "Developmental Dyscalculia" EXACT [] synonym: "Developmental Dyscalculias" EXACT [] synonym: "disorder of arithmetical skills" EXACT [] synonym: "Dyscalculias" EXACT [] synonym: "mathematics disorder" EXACT [] synonym: "Primary Dyscalculia" EXACT [] synonym: "Primary Dyscalculias" EXACT [] synonym: "Secondary Acalculia" EXACT [] synonym: "secondary acalculias" EXACT [] xref: MESH:D060705 is_a: DOID:8927 ! learning disability [Term] id: DOID:12570 name: phacolytic glaucoma def: "A phacogenic glaucoma that is characterized by acute onset of open-angle glaucoma secondary to a leaking mature or hypermature cataract and has_symptom chronic progressive vision loss with acute onset of pain, redness, and blurry vision. Phacolytic glaucomas are caused by direct obstruction of aqueous outflow pathways from leaking cataractous lens proteins. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30950286/ "DO"] xref: ICD9CM:365.51 is_a: DOID:12571 ! phacogenic glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:12571 name: phacogenic glaucoma def: "A glaucoma characterized by glaucomatous optic atrophy secondary to a lens abnormality and has_symptom progressive decreased vision, especially decreased peripheral vision. Phacogenic glaucoma can be caused by cataracts, trauma to the eye, or age-related damage that obstructs aqueous outflow, leading to inappropriately increased intraocular pressure and eventual optic nerve atrophy with associated vision loss. (DO)" [https://eyewiki.aao.org/Lens_Induced_Glaucomas "DO"] xref: ICD9CM:365.59 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:12573 name: neonatal thyrotoxicosis xref: ICD10CM:P72.1 xref: ICD9CM:775.3 xref: NCI:C114906 is_a: DOID:7997 ! thyrotoxicosis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12574 name: posterior uveitis def: "Inflammation of the choroid as well as the retina and vitreous body. Some form of visual disturbance is usually present. The most important characteristics of posterior uveitis are vitreous opacities, choroiditis, and chorioretinitis." [MESH:D015866] xref: EFO:1001119 xref: GARD:4457 xref: MESH:D015866 xref: NCI:C35111 xref: ORDO:280892 is_a: DOID:12030 ! panuveitis [Term] id: DOID:12577 name: urethral obstruction def: "Partial or complete blockage in any part of the URETHRA that can lead to difficulty or inability to empty the URINARY BLADDER. It is characterized by an enlarged, often damaged, bladder with frequent urges to void." [MESH:D014524] synonym: "obstruction of urethra" EXACT [] synonym: "urethral obstructions" EXACT [] xref: MESH:D014524 xref: NCI:C79804 is_a: DOID:5200 ! urinary tract obstruction is_a: DOID:732 ! urethral disease [Term] id: DOID:12580 name: Cri-du-Chat syndrome alt_id: MIM:123450 def: "A syndrome that has_material_basis_in deletion of the end of the chromosome 5 p arm and that is characterized by intellectual disability, delayed development, small head size, low birth weight, weak muscle tone widely set eyes, low-set ears, a small jaw, a rounded face and a high-pitched cry that sounds like that of a cat. (DO)" [https://ghr.nlm.nih.gov/condition/cri-du-chat-syndrome "DO", https://www.genome.gov/Genetic-Disorders/Cri-du-Chat "DO"] synonym: "5p deletion syndrome" EXACT [] synonym: "5p deletion syndromes" EXACT [] synonym: "5p Minus Syndrome" EXACT [] synonym: "5p Minus Syndromes" EXACT [] synonym: "5p partial monosomy syndrome" EXACT [] synonym: "5p Syndrome" EXACT [] synonym: "5p- Syndromes" EXACT [] synonym: "Cat Cry Syndrome" EXACT [] synonym: "Cat Cry Syndromes" EXACT [] synonym: "Chromosome 5p Deletion Syndrome" EXACT [] synonym: "Chromosome 5p- Syndrome" EXACT [] synonym: "Chromosome 5p- Syndromes" EXACT [] synonym: "Chromosome 5 Short Arm Deletion Syndrome" EXACT [] synonym: "Cri-du-Chat Syndromes" EXACT [] synonym: "crying cat syndrome" EXACT [] synonym: "crying cat syndromes" EXACT [] synonym: "deletion of short arm of chromosome 5 syndrome" EXACT [] xref: GARD:6213 xref: ICD10CM:Q93.4 xref: ICD9CM:758.31 xref: MESH:D003410 xref: NCI:C34518 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:12581 name: olecranon bursitis synonym: "bursitis of elbow" EXACT [] synonym: "bursitis of elbow region" EXACT [] synonym: "capped elbow" EXACT [] synonym: "elbow bursitis" EXACT [] synonym: "miner's elbow" EXACT [] synonym: "miners' elbow" EXACT [] synonym: "shoe boil" EXACT [] xref: ICD10CM:M70.2 xref: ICD9CM:726.33 is_a: DOID:12223 ! specific bursitis often of occupational origin is_a: DOID:204 ! enthesopathy created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:12583 name: velocardiofacial syndrome def: "A chromosomal deletion disease that has_material_basis_in da 1.5- to 3.0-Mb hemizygous deletion of chromosome 22q11.2 and that is characterized by variable developmental problems and schizoid features. Haploinsufficiency of the TBX1 gene in particular is responsible for most of the physical malformations. (DO)" [https://www.genome.gov/Genetic-Disorders/Velocardiofacial-Syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/19243607 "DO"] synonym: "CHROMOSOME 22q11.2 DELETION SYNDROME" EXACT [] synonym: "conotruncal anomaly face syndrome/velocardiofacial syndrome" EXACT [] synonym: "deletion 22q11.2 syndrome" EXACT [] synonym: "Shprintzen syndrome" EXACT [] synonym: "Shprintzen VCF syndrome" EXACT [] synonym: "VCFS" EXACT [] synonym: "VCF syndrome" EXACT [] synonym: "VCF-velocardiofacial syndrome" EXACT [] synonym: "velo cardio facial syndrome" EXACT [] xref: ICD10CM:Q93.81 xref: ICD9CM:758.32 xref: MIM:192430 is_a: DOID:9001460 ! 22q11 Deletion Syndrome created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:12594 name: Potter's syndrome def: "A renal agenesis characterized by the typical physical appearance and associated pulmonary hypoplasia of a newborn as a direct result of kidney failure, oligohydramnios and compression while in the uterus. (DO)" [http://en.wikipedia.org/wiki/Potter_Syndrome "DO", https://en.wikipedia.org/wiki/Potter_sequence "DO", https://rarediseases.info.nih.gov/diseases/4462/potter-syndrome "DO"] synonym: "Potter sequence" EXACT [] synonym: "Potter syndrome" EXACT [] xref: GARD:4462 xref: ICD10CM:Q60.6 xref: NCI:C40435 is_a: DOID:12215 ! oligohydramnios is_a: DOID:14766 ! renal agenesis is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1260 name: parametritis def: "Inflammation of the parametrium, the connective tissue of the pelvic floor, extending from the subserous coat of the uterus laterally between the layers of the BROAD LIGAMENT." [MESH:D010249] synonym: "parametritides" EXACT [] synonym: "pelvic cellulitides" EXACT [] synonym: "pelvic cellulitis" EXACT [] xref: EFO:1001084 xref: MESH:D010249 is_a: DOID:1003 ! pelvic inflammatory disease [Term] id: DOID:12603 name: acute leukemia def: "A lymphoid leukemia that occurs when a hematopoietic stem cell undergoes malignant transformation into a primitive, undifferentiated cell with abnormal longevity producing large numbers of white blood cells to be produced and enter the blood stream. (DO)" [http://en.wikipedia.org/wiki/Acute_leukemia "DO", http://www.bloodjournal.org/content/bloodjournal/128/3/462.full.pdf "DO", http://www.merck.com/mmpe/sec11/ch142/ch142b.html "DO"] synonym: "EFO:1000068" EXACT [] synonym: "MIXED PHENOTYPE ACUTE LEUKEMIA, T/MYELOID, NOT OTHERWISE SPECIFIED" NARROW [] synonym: "stem cell leukaemia" EXACT [] synonym: "stem cell leukemia" EXACT [] xref: EFO:1000068 xref: ICD10CM:C95.00 xref: ICD9CM:208.0 xref: ICDO:9801/3 xref: NCI:C9300 is_a: DOID:1037 ! lymphoid leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12637 name: perineocele def: "A prolapse of the female genital organ that is characterized by an isolated central defect and herniation of the posterior perineum in patients without diffuse vaginal prolapse. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16442600 "DO"] xref: ICD10CM:N81.81 xref: ICD9CM:618.05 is_a: DOID:1284 ! prolapse of female genital organ created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:12638 name: hypertrophic pyloric stenosis def: "A pyloric stenosis characterized by the enlargement of the muscle surrounding the pylorus, causing severe projectile non-bilious vomiting. (DO)" [http://en.wikipedia.org/wiki/Pyloric_stenosis "DO"] synonym: "congenital hypertrophic pyloric stenosis" EXACT [] synonym: "congenital or infantile stricture of pylorus" EXACT [] synonym: "MIM:PS179010" EXACT [] xref: EFO:0004707 xref: ICD10CM:Q40.0 xref: ICD9CM:750.5 xref: MESH:D046248 xref: NCI:C98952 is_a: DOID:12639 ! pyloric stenosis [Term] id: DOID:12639 name: pyloric stenosis def: "Narrowing of the pyloric canal with varied etiology. A common form is due to muscle hypertrophy (PYLORIC STENOSIS, HYPERTROPHIC) seen in infants." [] xref: EFO:0009626 xref: ICD10CM:K31.1 xref: MESH:D011707 xref: NCI:C34966 is_a: DOID:3122 ! gastric outlet obstruction [Term] id: DOID:12641 name: displacement of cardia through esophageal hiatus synonym: "congenital hiatus hernia" EXACT [] xref: ICD10CM:Q40.1 xref: ICD9CM:750.6 is_a: DOID:12642 ! hiatus hernia [Term] id: DOID:12642 name: hiatus hernia alt_id: MIM:142400 def: "STOMACH herniation located at or near the diaphragmatic opening for the ESOPHAGUS, the esophageal hiatus." [MESH:D006551] synonym: "diaphragmatic - hiatus -hernia" EXACT [] synonym: "esophageal hernia" EXACT [] synonym: "esophageal hernias" EXACT [] synonym: "hiatal hernia" EXACT [] synonym: "Hiatal Hernias" EXACT [] synonym: "Hiatus Hernias" EXACT [] synonym: "Paraesophageal Hernia" EXACT [] synonym: "Paraesophageal Hernias" EXACT [] synonym: "Paraesophageal Hiatal Hernia" EXACT [] synonym: "Paraesophageal Hiatal Hernias" EXACT [] synonym: "Sliding Esophageal Hernia" EXACT [] synonym: "Sliding Esophageal Hernias" EXACT [] synonym: "sliding hiatal hernia" EXACT [] synonym: "sliding hiatal hernias" EXACT [] xref: ICD10CM:K44 xref: MESH:D006551 xref: NCI:C98945 is_a: DOID:76 ! stomach disease is_a: DOID:9009073 ! Diaphragmatic Hernia [Term] id: DOID:12657 name: vestibulocochlear nerve disease def: "Pathological processes of the VESTIBULOCOCHLEAR NERVE, including the branches of COCHLEAR NERVE and VESTIBULAR NERVE. Common examples are VESTIBULAR NEURITIS, cochlear neuritis, and ACOUSTIC NEUROMA. Clinical signs are varying degree of HEARING LOSS; VERTIGO; and TINNITUS." [MESH:D000160] synonym: "Acoustic Nerve Disease" EXACT [] synonym: "acoustic nerve diseases" EXACT [] synonym: "Acoustic Nerve Disorder" EXACT [] synonym: "Acoustic Nerve Disorders" EXACT [] synonym: "Cochlear Nerve Disease" EXACT [] synonym: "Cochlear Nerve Diseases" EXACT [] synonym: "Cochlear Nerve Disorder" EXACT [] synonym: "Cochlear Nerve Disorders" EXACT [] synonym: "Cochlear Neuritides" EXACT [] synonym: "Cochlear Neuritis" EXACT [] synonym: "Cranial Nerve VIII Diseases" EXACT [] synonym: "Cranial Nerve VIII Disorders" EXACT [] synonym: "Eighth Cranial Nerve Diseases" EXACT [] synonym: "Vestibular Nerve Disease" EXACT [] synonym: "Vestibular Nerve Diseases" EXACT [] synonym: "vestibular nerve disorder" EXACT [] synonym: "vestibular nerve disorders" EXACT [] synonym: "vestibulocochlear nerve diseases" EXACT [] xref: ICD10CM:H93.3 xref: ICD9CM:388.5 xref: MESH:D000160 xref: MONDO:0001563 xref: NCI:C27207 is_a: DOID:2889 ! retrocochlear disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:12661 name: tooth ankylosis alt_id: MIM:157950 def: "Solid fixation of a tooth resulting from fusion of the cementum and alveolar bone, with obliteration of the periodontal ligament. It is uncommon in the deciduous dentition and very rare in permanent teeth. (Jablonski's Dictionary of Dentistry, 1992)" [MESH:D020254] synonym: "ankylosis of teeth" EXACT [] synonym: "ankylosis of tooth" EXACT [] synonym: "dental ankyloses" EXACT [] synonym: "Dental Ankylosis" EXACT [] synonym: "Dentoalveolar Ankyloses" EXACT [] synonym: "Dentoalveolar Ankylosis" EXACT [] synonym: "Teeth Ankyloses" EXACT [] synonym: "teeth ankylosis" EXACT [] synonym: "tooth ankyloses" EXACT [] xref: EFO:1001215 xref: GARD:701 xref: ICD10CM:K03.5 xref: ICD9CM:521.6 xref: MESH:D020254 xref: MONDO:0008007 is_a: DOID:214 ! teeth hard tissue disease is_a: DOID:227 ! ankylosis [Term] id: DOID:12662 name: paracoccidioidomycosis def: "A primary systemic mycosis that results_in systemic fungal infection located_in mucosa, located_in lymph nodes, located_in bone, located_in skin or located_in lungs, has_material_basis_in Paracoccidioides brasiliensis. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/Dimorphic_systemic/Paracoccidioidomycosis/ "DO"] synonym: "mucocutaneous-lymphangitic paracoccidioidomycosis" EXACT [] synonym: "paracoccidioidal mycosis" EXACT [] synonym: "paracoccidioidomycoses" EXACT [] synonym: "South American blastomycosis" EXACT [] xref: EFO:0007417 xref: GARD:7323 xref: ICD10CM:B41 xref: ICD9CM:116.1 xref: MESH:D010229 xref: NCI:C34891 is_a: DOID:0050134 ! cutaneous mycosis is_a: DOID:0050292 ! primary systemic mycosis is_a: DOID:0080001 ! bone disease is_a: DOID:3488 ! cellulitis is_a: DOID:850 ! lung disease is_a: DOID:9942 ! lymph node disease [Term] id: DOID:12663 name: blastomycosis def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening. (DO)" [http://en.wikipedia.org/wiki/Blastomycosis "DO"] synonym: "blastomyces dermatitidis Infection" EXACT [] synonym: "blastomycoses" EXACT [] synonym: "blastomycotic infection" EXACT [] synonym: "Chicago disease" EXACT [] synonym: "Gilchrist's Disease" EXACT [] synonym: "Gilchrist Disease" EXACT [] synonym: "Gilchrists Disease" EXACT [] synonym: "infection by blastomyces dermatitidis" EXACT [] synonym: "North American blastomycosis" EXACT [] xref: EFO:0007174 xref: GARD:5931 xref: ICD10CM:B40 xref: ICD9CM:116.0 xref: MESH:D001759 xref: NCI:C34428 is_a: DOID:0050292 ! primary systemic mycosis is_a: DOID:1563 ! dermatomycosis is_a: DOID:9005724 ! Fungal Lung Diseases [Term] id: DOID:12667 name: binocular vision disease synonym: "simultaneous visual perception without fusion" EXACT [] xref: EFO:0009535 xref: ICD10CM:H53.30 xref: ICD9CM:368.30 xref: NCI:C34422 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12668 name: abnormal retinal correspondence xref: ICD10CM:H53.31 xref: ICD9CM:368.34 xref: RDO:9003359 is_a: DOID:12667 ! binocular vision disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12678 name: hypercalcemia def: "Abnormally high level of calcium in the blood." [MESH:D006934] synonym: "hypercalcemia disease" EXACT [] synonym: "hypercalcemias" EXACT [] synonym: "Milk Alkali Syndrome" EXACT [] xref: EFO:0005563 xref: ICD10CM:E83.52 xref: ICD9CM:275.42 xref: MESH:D006934 xref: MIM:PS143880 xref: MONDO:0001566 xref: NCI:C3112 is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:9004004 ! Water-Electrolyte Imbalance [Term] id: DOID:12679 name: nephrocalcinosis alt_id: MESH:C531755 alt_id: RDO:0000168 alt_id: RDO:0000169 def: "A condition characterized by calcification of the renal tissue itself. It is usually seen in distal RENAL TUBULAR ACIDOSIS with calcium deposition in the DISTAL KIDNEY TUBULES and the surrounding interstitium. Nephrocalcinosis causes RENAL INSUFFICIENCY." [MESH:D009397] synonym: "kidney disorder involving deposition of calcium and oxalate or phosphate in the renal tubules" EXACT [] synonym: "Nephrocalcinoses" EXACT [] xref: GARD:7177 xref: MESH:D009397 xref: NCI:C84918 is_a: DOID:182 ! calcinosis is_a: DOID:557 ! kidney disease [Term] id: DOID:12680 name: pseudobulbar palsy def: "A brain disease that is characterized by damage to neurons of the corticobulbar tract, has_symptom dysarthria, has_symptom dysphagia, has_symptom spasticity located_in tongue, has_symptom gag reflex, and has_symptom emotional outbursts. (DO)" [https://en.wikipedia.org/wiki/Corticobulbar_tract "DO", https://en.wikipedia.org/wiki/Pseudobulbar_palsy "DO"] synonym: "Pseudobulbar Dysarthria" EXACT [] synonym: "pseudobulbar dysarthrias" EXACT [] synonym: "Pseudobulbar Mutism" EXACT [] synonym: "pseudobulbar mutisms" EXACT [] synonym: "pseudobulbar palsies" EXACT [] synonym: "Pseudobulbar Paralysis" EXACT [] synonym: "Pseudobulbar Pareses" EXACT [] synonym: "pseudobulbar paresis" EXACT [] synonym: "pseudobulbar syndrome" EXACT [] synonym: "pseudobulbar syndromes" EXACT [] synonym: "spastic bulbar palsies" EXACT [] synonym: "spastic bulbar palsy" EXACT [] xref: EFO:1001131 xref: ICD9CM:335.23 xref: MESH:D020828 xref: NCI:C129934 is_a: DOID:225 ! syndrome is_a: DOID:231 ! motor neuron disease is_a: DOID:9005246 ! Paralysis is_a: DOID:936 ! brain disease [Term] id: DOID:12683 name: vestibular neuronitis def: "A inner ear infectious disease caused by a viral infection which involves inflammation of the vestibular nerve. It usually results as a complication of an upper respiratory infection. This causes sudden and severe vertigo, nausea and vomiting. Auditory symptoms are usually absent. (DO)" [http://en.wikipedia.org/wiki/Vestibular_neuritis "DO", https://www.ncbi.nlm.nih.gov/pubmed/16448876 "DO"] synonym: "Acute Peripheral Vestibulopathies" EXACT [] synonym: "Acute Peripheral Vestibulopathy" EXACT [] synonym: "Acute Vestibular Neuritides" EXACT [] synonym: "Acute Vestibular Neuritis" EXACT [] synonym: "Epidemic Neurolabyrinthitides" EXACT [] synonym: "Epidemic Neurolabyrinthitis" EXACT [] synonym: "Episodic Recurrent Vertigo" EXACT [] synonym: "Episodic Recurrent Vertigos" EXACT [] synonym: "Recurrent Vestibular Neuritides" EXACT [] synonym: "Recurrent Vestibular Neuritis" EXACT [] synonym: "Recurrent Vestibulopathies" EXACT [] synonym: "Recurrent Vestibulopathy" EXACT [] synonym: "Subacute Vestibular Neuritides" EXACT [] synonym: "Subacute Vestibular Neuritis" EXACT [] synonym: "Vestibular Nerve Inflammation" EXACT [] synonym: "Vestibular Nerve Inflammations" EXACT [] synonym: "Vestibular Nerve Neuritides" EXACT [] synonym: "Vestibular Nerve Neuritis" EXACT [] synonym: "Vestibular Neuritides" EXACT [] synonym: "Vestibular Neuritis" EXACT [] synonym: "Vestibular Neuronitides" EXACT [] synonym: "Vestibular Neuropathies" EXACT [] synonym: "Vestibular Neuropathy" EXACT [] xref: EFO:0007537 xref: ICD10CM:H81.2 xref: ICD9CM:386.12 xref: MESH:D020338 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:4953 ! poliomyelitis [Term] id: DOID:12685 name: mixed receptive-expressive language disorder def: "A communication disorder that involves both the receptive and expressive areas of communication may be affected in any degree, from mild to severe. (DO)" [http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder, http://en.wikipedia.org/wiki/Mixed_receptive-expressive_language_disorder "DO"] xref: ICD10CM:F80.2 xref: ICD9CM:315.32 xref: NCI:C92563 is_a: DOID:2033 ! communication disorder [Term] id: DOID:12689 name: acoustic neuroma def: "A benign SCHWANNOMA of the eighth cranial nerve (VESTIBULOCOCHLEAR NERVE), mostly arising from the vestibular branch (VESTIBULAR NERVE) during the fifth or sixth decade of life. Clinical manifestations include HEARING LOSS; HEADACHE; VERTIGO; TINNITUS; and FACIAL PAIN. Bilateral acoustic neuromas are associated with NEUROFIBROMATOSIS 2. (From Adams et al., Principles of Neurology, 6th ed, p673)" [MESH:D009464] synonym: "acoustic neurilemmoma" EXACT [] synonym: "acoustic neurilemmomas" EXACT [] synonym: "Acoustic Neurilemoma" EXACT [] synonym: "Acoustic Neurilemomas" EXACT [] synonym: "Acoustic Neurinoma" EXACT [] synonym: "Acoustic Neurinomas" EXACT [] synonym: "Acoustic Neuromas" EXACT [] synonym: "Acoustic Schwannoma" EXACT [] synonym: "Acoustic Schwannomas" EXACT [] synonym: "Acoustic Tumor" EXACT [] synonym: "Acoustic Tumors" EXACT [] synonym: "Cerebellopontine Angle Acoustic Neuroma" EXACT [] synonym: "Melanocytic Vestibular Schwannoma" EXACT [] synonym: "Melanocytic Vestibular Schwannomas" EXACT [] synonym: "neurinoma of the acoustic nerve" EXACT [] synonym: "unilateral acoustic neuroma" EXACT [] synonym: "vestibular neurilemmoma" EXACT [] synonym: "vestibular schwannoma" EXACT [] synonym: "vestibular schwannomas" EXACT [] xref: EFO:0000693 xref: GARD:223 xref: MESH:D009464 xref: NCI:C3276 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:3192 ! neurilemmoma is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms [Term] id: DOID:12697 name: locked-in syndrome def: "A nervous system disease that is characterized by complete paralysis of all voluntary muscles except for the ones that control the movements of the eyes. (DO)" [http://rarediseases.org/rare-diseases/locked-in-syndrome/ "DO"] synonym: "cerebromedullospinal disconnection" EXACT [] synonym: "de-efferented state" EXACT [] synonym: "locked-in state" EXACT [] synonym: "locked-in syndromes" EXACT [] synonym: "ventral pontine syndrome" EXACT [] xref: GARD:6919 xref: ICD10CM:G83.5 xref: ICD9CM:344.81 xref: MESH:D000080422 is_a: DOID:12835 ! quadriplegia is_a: DOID:225 ! syndrome is_a: DOID:440 ! neuromuscular disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:12698 name: gynecomastia def: "A disorder of sexual development that is characterized by enlargement or swelling of male breast tissue resulting from elevated male estrogen levels or imbalanced estrogen and testosterone levels. (DO)" [https://my.clevelandclinic.org/health/diseases/16227-enlarged-male-breast-tissue-gynecomastia "DO", https://www.mayoclinic.org/diseases-conditions/gynecomastia/symptoms-causes/syc-20351793 "DO"] synonym: "Adolescent Gynecomastia" EXACT [] synonym: "Male Breast Enlargement" EXACT [] xref: ICD10CM:N62 xref: MESH:D006177 xref: NCI:C3073 is_a: DOID:1923 ! disorder of sexual development is_a: DOID:3463 ! breast disease [Term] id: DOID:127 name: leiomyoma def: "A cell type benign neoplasm that is a benign tumor of smooth muscle cells. (DO)" [http://en.wikipedia.org/wiki/Cancer "DO", http://en.wikipedia.org/wiki/Leiomyoma "DO"] synonym: "Fibroid" EXACT [] synonym: "fibroids" EXACT [] synonym: "Fibroid Tumor" EXACT [] synonym: "Fibroid Tumors" EXACT [] synonym: "Fibroid Uterus" EXACT [] synonym: "Fibromyoma" EXACT [] synonym: "Fibromyomas" EXACT [] synonym: "Leiomyomas" EXACT [] synonym: "leiomyomatous neoplasm" EXACT [] synonym: "leiomyomatous tumor" EXACT [] synonym: "renal leiomyoma" NARROW [] synonym: "Uterine Fibroma" EXACT [] synonym: "uterine fibromas" EXACT [] xref: EFO:1000050 xref: ICDO:8890/0 xref: MESH:D007889 xref: NCI:C3157 xref: NCI:C60426 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:9003582 ! Muscle Tissue Neoplasms [Term] id: DOID:1270 name: hereditary hemorrhagic telangiectasia def: "A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. (DO)" [http://en.wikipedia.org/wiki/Hereditary_hemorrhagic_telangiectasia "DO", http://ghr.nlm.nih.gov/condition/hereditary-hemorrhagic-telangiectasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1351/ "DO"] synonym: "hereditary hemorrhagic telangiectasia of Rendu, Osler, and Weber" EXACT [] synonym: "HHT" EXACT [] synonym: "ORW Disease" EXACT [] synonym: "Osler's disease" EXACT [] synonym: "Osler disease" EXACT [] synonym: "OSLER HEMORRHAGIC TELANGIECTASIA SYNDROME" RELATED [] synonym: "Osler Rendu disease" EXACT [] synonym: "Osler Rendu Weber disease" EXACT [] synonym: "Osler Weber Rendu syndrome" EXACT [] synonym: "PULMONARY ARTERIOVENOUS MALFORMATION" NARROW [] synonym: "Rendu Osler Weber" EXACT [] synonym: "Weber Osler" EXACT [] xref: GARD:6626 xref: ICD10CM:I78.0 xref: ICD9CM:448.0 xref: MESH:D013683 xref: MIM:PS187300 xref: NCI:C35064 xref: ORDO:774 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1272 ! telangiectasis is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:12700 name: hyperprolactinemia alt_id: MIM:615555 def: "An acquired metabolic disease that has_material_basis_in the presence of abnormally-high levels of prolactin in the blood. (DO)" [http://en.wikipedia.org/wiki/Hyperprolactinemia "DO"] synonym: "FAMILIAL HYPERPROLACTINEMIA" NARROW [] synonym: "HPRL" EXACT [] synonym: "Hyperprolactinaemia" EXACT [] synonym: "hyperprolactinemias" EXACT [] synonym: "Inappropriate Prolactin Secretion" EXACT [] synonym: "Inappropriate Prolactin Secretion Syndrome" EXACT [] synonym: "pregnancy-related A-G syndrome" EXACT [] synonym: "prolactin hypersecretion syndrome" EXACT [] xref: EFO:0007319 xref: ICD10CM:E22.1 xref: MESH:D006966 xref: NCI:C113168 is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:2444 ! hyperpituitarism [Term] id: DOID:12704 name: ataxia telangiectasia alt_id: MIM:208900 def: "An autosomal recessive cerebellar ataxia that is characterized by cerebellar ataxia, telangiectases, immune defects, and a predisposition to malignancy and that has_material_basis_in homozygous or compound heterozygous mutation in the ATM gene on chromosome 11q22. (DO)" [https://ghr.nlm.nih.gov/condition/ataxia-telangiectasia "DO"] synonym: "AT" EXACT [] synonym: "AT1" EXACT [] synonym: "ATA" NARROW [] synonym: "ataxia telangiectasia syndrome" EXACT [] synonym: "ATAXIA-TELANGIECTASIA VARIANT" NARROW [] synonym: "ATAXIA-TELANGIECTASIA WITHOUT IMMUNODEFICIENCY" NARROW [] synonym: "ATC" NARROW [] synonym: "AT, COMPLEMENTATION GROUP C" NARROW [] synonym: "AT, COMPLEMENTATION GROUP D" NARROW [] synonym: "AT, COMPLEMENTATION GROUP E" NARROW [] synonym: "ATD" NARROW [] synonym: "ATE" NARROW [] synonym: "Boder-Sedgwick syndrome" EXACT [] synonym: "cerebello-oculocutaneous telangiectasia" EXACT [] synonym: "Louis Bar syndrome" EXACT [] synonym: "LOUIS-BAR SYNDROME AT, COMPLEMENTATION GROUP A" NARROW [] xref: EFO:0004924 xref: GARD:5862 xref: MESH:D001260 xref: MONDO:0008840 xref: NCI:C2887 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:1272 ! telangiectasis is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:12705 name: Friedreich ataxia def: "An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)" [MESH:D005621] synonym: "Friedreich's Ataxia" EXACT [] synonym: "Friedreich's Disease" EXACT [] synonym: "Friedreich's Familial Ataxia" EXACT [] synonym: "Friedreich's Hereditary Ataxia" EXACT [] synonym: "Friedreich's hereditary ataxias" EXACT [] synonym: "Friedreich's hereditary spinal ataxia" EXACT [] synonym: "Friedreich's tabes" EXACT [] synonym: "Friedreich ataxias" EXACT [] synonym: "Friedreich disease" EXACT [] synonym: "Friedreich familial ataxia" EXACT [] synonym: "Friedreich Hereditary Ataxia" EXACT [] synonym: "Friedreich Hereditary Spinal Ataxia" EXACT [] synonym: "Friedreichs Familial Ataxia" EXACT [] synonym: "Friedreichs Hereditary Ataxia" EXACT [] synonym: "Friedreich spinocerebellar ataxia" EXACT [] synonym: "hereditary spinal scleroses" EXACT [] synonym: "hereditary spinal sclerosis" EXACT [] xref: GARD:6468 xref: ICD10CM:G11.11 xref: ICD9CM:334.0 xref: MESH:D005621 xref: NCI:C84718 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:12707 name: myoclonic cerebellar dyssynergia alt_id: MIM:213400 def: "A condition marked by progressive CEREBELLAR ATAXIA combined with MYOCLONUS usually presenting in the third decade of life or later. Additional clinical features may include generalized and focal SEIZURES, spasticity, and DYSKINESIAS. Autosomal recessive and autosomal dominant patterns of inheritance have been reported. Pathologically, the dentate nucleus and brachium conjunctivum of the CEREBELLUM are atrophic, with variable involvement of the spinal cord, cerebellar cortex, and basal ganglia. (From Joynt, Clinical Neurology, 1991, Ch37, pp60-1)" [MESH:D002527] synonym: "cerebellar dyssynergia" EXACT [] synonym: "cerebellar dyssynergias" EXACT [] synonym: "cerebelloparenchymal disorder V" EXACT [] synonym: "CPD5" EXACT [] synonym: "Dentate Cerebellar Ataxia" EXACT [] synonym: "Dentate Cerebellar Ataxias" EXACT [] synonym: "Dentate Cerebellar Atrophies" EXACT [] synonym: "Dentate Cerebellar Atrophy" EXACT [] synonym: "Dentate Nucleus Syndrome, Ramsay Hunt" EXACT [] synonym: "Dyssynergia Cerebellaris Myoclonica" EXACT [] synonym: "Dyssynergia Cerebellaris Myoclonica Of Hunt" EXACT [] synonym: "Dyssynergia Cerebellaris Progressiva" EXACT [] synonym: "Myoclonic Cerebellar Dyssynergias" EXACT [] synonym: "myoclonus and ataxia" EXACT [] synonym: "progressive cerebellar tremor" EXACT [] synonym: "Ramsay Hunt cerebellar syndrome" EXACT [] synonym: "Ramsay Hunt dentate syndrome" EXACT [] synonym: "spinodentate atrophy" EXACT [] xref: EFO:1001053 xref: GARD:9256 xref: MESH:D002527 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:1271 name: capillary disease def: "A vascular disease that is located_in the capillaries. (DO)" [http://en.wikipedia.org/wiki/Capillary#Pathophysiology "DO"] synonym: "disease of capillaries" EXACT [] xref: ICD10CM:I78 xref: ICD9CM:448 xref: RDO:9002798 is_a: DOID:178 ! vascular disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12711 name: black piedra def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Piedraia hortae, an ascomycetous fungus forming hard black nodules on the shafts of the scalp, beard, moustache and pubic hair. (DO)" [http://en.wikipedia.org/wiki/Black_piedra "DO", http://mycology.adelaide.edu.au/Mycoses/Superficial/Black_piedra/ "DO"] xref: EFO:0007171 xref: ICD10CM:B36.3 xref: ICD9CM:111.3 is_a: DOID:0050133 ! superficial mycosis [Term] id: DOID:12712 name: nephronophthisis def: "A kidney disease that is characterized by a chronic tubulointerstitial nephritis that progress to terminal renal failure during the second decade (juvenile form) or before the age of 5 years (infantile form) resulting from dysfunction of ciliary proteins (ciliopathy). (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770134/ "DO"] synonym: "medullary cystic disease" EXACT [] synonym: "medullary cystic kidney" EXACT [] synonym: "Nephronophthisis 8" NARROW [] xref: GARD:206 xref: ICD10CM:Q61.5 xref: MIM:PS256100 xref: NCI:C123200 xref: ORDO:655 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2975 ! cystic kidney disease created_by: rgd creation_date: 2015-05-12T00:00:00Z [Term] id: DOID:12714 name: Ellis-Van Creveld syndrome alt_id: MIM:225500 def: "A syndrome characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails and teeth, and in many patients congenital cardiac defects that has_material_basis_in homozygous or compound heterozygous mutation in either the EVC or EVC2 gene on chromosome 4p16.2. (DO)" [https://ghr.nlm.nih.gov/condition/ellis-van-creveld-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/10700184 "DO"] synonym: "Chondroectodermal Dysplasia" EXACT [] synonym: "chondroectodermal dysplasias" EXACT [] synonym: "Ellis Van Creveld dysplasia" EXACT [] synonym: "EVC" EXACT [] synonym: "mesoectodermal dysplasia" EXACT [] synonym: "mesoectodermal dysplasias" EXACT [] xref: GARD:1301 xref: ICD10CM:Q77.6 xref: ICD9CM:756.55 xref: MESH:D004613 xref: NCI:C84684 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:12716 name: newborn respiratory distress syndrome alt_id: DOID:9002636 alt_id: MESH:C538359 alt_id: OMIA:000101 def: "A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory+distress+syndrome "DO"] synonym: "HMD - hyaline membrane disease" EXACT [] synonym: "infantile respiratory distress syndrome" EXACT [] synonym: "NEONATAL RESPIRATORY DISTRESS" EXACT [] synonym: "Neonatal Respiratory Distress Syndrome" EXACT [] synonym: "pulmonary hyaline membrane disease" EXACT [] synonym: "pulmonary hypoperfusion syndrome of newborn" EXACT [] synonym: "RDS - Infants" EXACT [] synonym: "respiratory distress syndrome, infant" EXACT [] synonym: "respiratory distress syndrome of newborn" EXACT [] xref: EFO:1000644 xref: ICD10CM:P22.0 xref: MESH:D012127 is_a: DOID:11162 ! respiratory failure is_a: DOID:850 ! lung disease is_a: DOID:9004676 ! Premature Infant Diseases [Term] id: DOID:12718 name: chronic gonococcal salpingitis def: "A chronic salpingitis that is caused by gonorrhea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14846362 "DO"] synonym: "gonococcal salpingitis" EXACT [] xref: ICD9CM:098.37 is_a: DOID:5731 ! chronic salpingitis is_a: DOID:9008538 ! Neisseriaceae Infections created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:1272 name: telangiectasis def: "Permanent dilation of preexisting blood vessels (CAPILLARIES; ARTERIOLES; VENULES) creating small focal red lesions, most commonly in the skin or mucous membranes. It is characterized by the prominence of skin blood vessels, such as vascular spiders." [MESH:D013684] synonym: "spider vein" EXACT [] synonym: "spider veins" EXACT [] synonym: "Telangiectases" EXACT [] synonym: "telangiectasia" EXACT [] synonym: "telangiectasias" EXACT [] xref: MESH:D013684 xref: NCI:C28194 is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:12720 name: cerebral atherosclerosis synonym: "cerebral atheroscleroses" EXACT [] xref: EFO:1000860 xref: ICD10CM:I67.2 xref: ICD9CM:437.0 xref: NCI:C34459 is_a: DOID:1936 ! atherosclerosis [Term] id: DOID:12721 name: multiple epiphyseal dysplasia def: "An osteochondrodysplasia that has_material_basis_in defective cartilage mineralization into bone which results in irregular ossification centers of the located in hip or located in knee. The disease has symptom fatigue, has symptom joint pain. (DO)" [http://en.wikipedia.org/wiki/Multiple_epiphyseal_dysplasia "DO", http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia "DO"] synonym: "multiple epiphyseal dysplasia, dominant" RELATED [] synonym: "polyepiphyseal dysplasia" EXACT [] xref: GARD:10756 xref: ICD9CM:756.56 xref: MIM:PS132400 xref: ORDO:251 xref: RDO:9002946 is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1273 name: respiratory syncytial virus infectious disease def: "A viral infectious disease that results_in infection located_in upper respiratory tract or located_in lower respiratory tract, has_material_basis_in Human respiratory syncytial virus, which is transmitted_by droplet spread of nasal secretions from an infected person while coughing or sneezing, or transmitted_by contaminated fomites. The infection has_symptom runny nose, has_symptom fever, has_symptom cough, has_symptom wheezing, and has_symptom respiratory distress. (DO)" [http://www.merck.com/mmhe/sec23/ch273/ch273i.html?qt=respiratory%20syncytial%20virus&alt=sh#sec23-ch273-ch273i-982g "DO"] synonym: "respiratory syncytial virus" EXACT [] synonym: "respiratory syncytial virus infection" EXACT [] synonym: "respiratory syncytial virus infections" EXACT [] synonym: "RSV" EXACT [] synonym: "RSV infection" EXACT [] synonym: "RSV infectious disease" EXACT [] xref: EFO:1001413 xref: MESH:D018357 xref: NCI:C3354 is_a: DOID:9001953 ! Pneumovirus Infections is_a: DOID:934 ! viral infectious disease [Term] id: DOID:12731 name: pars planitis alt_id: MIM:606177 def: "Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata." [MESH:D015868] synonym: "posterior cyclitis" EXACT [] xref: EFO:1001088 xref: GARD:7339 xref: ICD10CM:H30.2 xref: ICD9CM:363.21 xref: MESH:D015868 xref: NCI:C34903 is_a: DOID:11406 ! choroiditis is_a: DOID:12732 ! intermediate uveitis is_a: DOID:8886 ! chorioretinitis [Term] id: DOID:12732 name: intermediate uveitis def: "Inflammation of the pars plana, ciliary body, and adjacent structures." [MESH:D015867] synonym: "chronic cyclitis" EXACT [] synonym: "peripheral uveoretinitis" EXACT [] xref: EFO:1000986 xref: MESH:D015867 xref: NCI:C35110 is_a: DOID:13141 ! uveitis [Term] id: DOID:12733 name: hypercementosis alt_id: RDO:0005831 def: "A regressive change of teeth characterized by excessive development of secondary cementum on the tooth surface. It may occur on any part of the root, but the apical two-thirds are most commonly affected. (Dorland, 27th ed)" [MESH:D006936] synonym: "cementation hyperplasia" EXACT [] synonym: "Hypercementoses" EXACT [] xref: EFO:1000970 xref: ICD10CM:K03.4 xref: ICD9CM:521.5 xref: MESH:D006936 is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:12735 name: hernia of ovary and fallopian tube def: "A female reproductive system disease that is characterized by the protrusion of the ovary and fallopian tube through a defect inthe abdominal wall. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3327571/ "DO"] xref: ICD10CM:N83.4 xref: ICD10CM:N83.40 xref: ICD9CM:620.4 is_a: DOID:229 ! female reproductive system disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12750 name: cyclosporiasis def: "A coccidiosis that involves infection of the intestine with the parasitic protozoan Cyclospora cayetanensis, which is transmitted by contaminated food and water. The symptoms include watery diarrhea, anorexia, weight loss, abdominal pain, nausea and vomiting, myalgias, low-grade fever, and fatigue. (DO)" [https://www.cdc.gov/parasites/cyclosporiasis/index.html "DO"] synonym: "cyclosporiases" EXACT [] xref: EFO:0007230 xref: GARD:9528 xref: ICD10CM:A07.4 xref: ICD9CM:007.5 xref: MESH:D021866 xref: NCI:C128409 is_a: DOID:2113 ! coccidiosis [Term] id: DOID:12753 name: corneal staphyloma xref: ICD10CM:H18.72 xref: ICD9CM:371.73 xref: RDO:9003434 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:12756 name: lacrimal duct cancer synonym: "malignant neoplasm of lacrimal duct" EXACT [] synonym: "malignant tumor of lacrimal duct" EXACT [] xref: ICD9CM:190.7 xref: NCI:C3567 is_a: DOID:292 ! lacrimal system cancer created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:12759 name: choroid cancer synonym: "malignant tumor of choroid" EXACT [SNOMEDCT_2005_07_31:363466008] synonym: "malignant tumor of the choroid" EXACT [NCI2004_11_17:C3566] xref: EFO:1000866 xref: ICD10CM:C69.3 xref: ICD9CM:190.6 xref: NCI:C2949 xref: NCI:C3566 is_a: DOID:3479 ! uveal cancer is_a: DOID:9000994 ! Choroid Neoplasms [Term] id: DOID:1278 name: Tolosa-Hunt syndrome def: "An idiopathic syndrome characterized by the formation of granulation tissue in the anterior cavernous sinus or superior orbital fissure, producing a painful ophthalmoplegia. (Adams et al., Principles of Neurology, 6th ed, p271)" [MESH:D020333] xref: GARD:7777 xref: MESH:D020333 xref: NCI:C85193 is_a: DOID:1279 ! ocular motility disease is_a: DOID:225 ! syndrome [Term] id: DOID:12782 name: cicatricial ectropion xref: ICD9CM:374.14 is_a: DOID:1570 ! ectropion [Term] id: DOID:12783 name: migraine without aura alt_id: MIM:607501 def: "A migraine that is characterized by migraine headaches that are not accompanied by an aura. (DO)" [http://en.wikipedia.org/wiki/Migraine "DO"] synonym: "Common Migraine" EXACT [] synonym: "Common Migraines" EXACT [] synonym: "MGOA" EXACT [] synonym: "MGR4" RELATED [] synonym: "migraine without aura, susceptibility to, 4" RELATED [] xref: EFO:0005296 xref: ICD10CM:G43.0 xref: ICD9CM:346.1 xref: MESH:D020326 xref: MONDO:0011847 xref: MONDO:0100431 xref: NCI:C117004 is_a: DOID:6364 ! migraine [Term] id: DOID:12785 name: diabetic polyneuropathy synonym: "diabetes mellitus with polyneuropathy" EXACT [] synonym: "polyneuropathy in diabetes" EXACT [] xref: EFO:1000783 xref: ICD9CM:357.2 is_a: DOID:9743 ! diabetic neuropathy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1279 name: ocular motility disease def: "Disorders that feature impairment of eye movements as a primary manifestation of disease. These conditions may be divided into infranuclear, nuclear, and supranuclear disorders. Diseases of the eye muscles or oculomotor cranial nerves (III, IV, and VI) are considered infranuclear. Nuclear disorders are caused by disease of the oculomotor, trochlear, or abducens nuclei in the BRAIN STEM. Supranuclear disorders are produced by dysfunction of higher order sensory and motor systems that control eye movements, including neural networks in the CEREBRAL CORTEX; BASAL GANGLIA; CEREBELLUM; and BRAIN STEM. Ocular torticollis refers to a head tilt that is caused by an ocular misalignment. Opsoclonus refers to rapid, conjugate oscillations of the eyes in multiple directions, which may occur as a parainfectious or paraneoplastic condition (e.g., OPSOCLONUS-MYOCLONUS SYNDROME). (Adams et al., Principles of Neurology, 6th ed, p240)" [] synonym: "conjugate gaze spasm" EXACT [] synonym: "conjugate gaze spasms" EXACT [] synonym: "Convergence Excess" EXACT [] synonym: "Convergence Excesses" EXACT [] synonym: "Convergence Insufficiencies" EXACT [] synonym: "Convergence Insufficiency" EXACT [] synonym: "Cyclophoria" EXACT [] synonym: "Cyclophorias" EXACT [] synonym: "disorder of eye movements" EXACT [SNOMEDCT_2005_07_31:45030009] synonym: "Eye Motility Disorder" EXACT [] synonym: "Eye Motility Disorders" EXACT [] synonym: "Eye Movement Disorder" EXACT [] synonym: "Eye Movement Disorders" EXACT [] synonym: "Ocular Motility Disorder" EXACT [] synonym: "Ocular Motility Disorders" EXACT [] synonym: "Ocular Torticollis" EXACT [] synonym: "Opsoclonus" EXACT [] synonym: "Parinaud's Syndrome" EXACT [] synonym: "Parinauds Syndrome" EXACT [] synonym: "Parinaud Syndrome" EXACT [] synonym: "Paroxysmal Ocular Dyskinesia" EXACT [] synonym: "Paroxysmal Ocular Dyskinesias" EXACT [] synonym: "Pseudoophthalmoplegia" EXACT [] synonym: "Pseudoophthalmoplegias" EXACT [] synonym: "Skew Deviation" EXACT [] synonym: "Skew Deviations" EXACT [] synonym: "Smooth Pursuit Deficiencies" EXACT [] synonym: "smooth pursuit deficiency" EXACT [] synonym: "spasm of conjugate gaze" EXACT [] xref: EFO:1001990 xref: GARD:7061 xref: GARD:7237 xref: ICD9CM:378.9 xref: MESH:D015835 is_a: DOID:331 ! central nervous system disease is_a: DOID:5614 ! eye disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:12797 name: hallucinogen abuse def: "A substance abuse that involves the recurring use of hallucinogenic drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Hallucinogen "DO"] synonym: "hallucinogen use disorder" EXACT [] xref: ICD10CM:F16.1 xref: ICD9CM:305.3 is_a: DOID:302 ! substance abuse created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12798 name: mucopolysaccharidosis def: "A lysosomal storage disease that involves the accumulation of glycosaminoglycans in the tissues and their excretion in the urine. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Mucopolysaccharidosis "DO"] synonym: "IDUA pseudodeficiency" RELATED [] synonym: "mucopolysaccharidoses" EXACT [] xref: GARD:7065 xref: ICD10CM:E76.3 xref: ICD9CM:277.5 xref: MESH:D009083 xref: MIM:PS607014 xref: NCI:C61259 xref: ORDO:79213 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:3141 ! mucinoses is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:12799 name: mucopolysaccharidosis II alt_id: MIM:309900 def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. (DO)" [http://en.wikipedia.org/wiki/Hunter_syndrome "DO"] synonym: "deficiency of iduronate-2-sulphatase" EXACT [] synonym: "Hunter's syndrome" EXACT [] synonym: "Hunters syndrome" EXACT [] synonym: "Hunter Syndrome" EXACT [] synonym: "Hunter Syndrome Gargoylism" EXACT [] synonym: "I2S Deficiency" EXACT [] synonym: "IDS DEFICIENCY" EXACT [] synonym: "Iduronate 2 Sulfatase Deficiency" EXACT [] synonym: "Iduronate Sulfatase Deficiency" EXACT [] synonym: "MPS2" EXACT [] synonym: "MPS II" EXACT [] synonym: "MPS II - Hunter syndrome" EXACT [] synonym: "Mucopolysaccharidosis 2" EXACT [] synonym: "MUCOPOLYSACCHARIDOSIS, MPS-II" EXACT [] synonym: "Mucopolysaccharidosis Type 2" EXACT [] synonym: "Mucopolysaccharidosis Type II" EXACT [] synonym: "mucopolysaccharidosis type II, mild form" NARROW [] synonym: "mucopolysaccharidosis type II, severe form" NARROW [] synonym: "SIDS deficiency" EXACT [] synonym: "sulfoiduronate sulfatase deficiency" EXACT [] xref: GARD:6675 xref: ICD10CM:E76.1 xref: MESH:D016532 xref: NCI:C61260 xref: ORDO:580 is_a: DOID:12798 ! mucopolysaccharidosis is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:12800 name: mucopolysaccharidosis VI alt_id: MIM:253200 alt_id: OMIA:000666 def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme N-acetylgalactosamine 4-sulfatase. (DO)" [http://en.wikipedia.org/wiki/Maroteaux-Lamy_syndrome "DO"] synonym: "ARSB deficiencies" EXACT [] synonym: "ARSB deficiency" EXACT [] synonym: "arylsulfatase B deficiencies" EXACT [] synonym: "Arylsulfatase B Deficiency" EXACT [] synonym: "deficiency of N-acetylgalactosamine-4-sulfatase" EXACT [] synonym: "Maroteaux Lamy Syndrome" EXACT [] synonym: "MPS6" EXACT [] synonym: "MPS VI" EXACT [] synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT [] synonym: "Mucopolysaccharidosis 6" EXACT [] synonym: "Mucopolysaccharidosis Type 6" EXACT [] synonym: "mucopolysaccharidosis type VI" EXACT [] synonym: "mucopolysaccharidosis type VI, intermediate" NARROW [] synonym: "mucopolysaccharidosis type VI, mild" NARROW [] synonym: "mucopolysaccharidosis type VI, severe" NARROW [] synonym: "N-acetylgalactosamine-4-sulfatase deficiencies" EXACT [] synonym: "N-acetylgalactosamine-4-sulfatase deficiency" EXACT [] synonym: "polydystrophic dwarfism" EXACT [] xref: GARD:7095 xref: MESH:D009087 xref: NCI:C61264 xref: ORDO:583 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12801 name: mucopolysaccharidosis III alt_id: OMIA:001309 alt_id: OMIA:001342 def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. (DO)" [http://en.wikipedia.org/wiki/Sanfilippo_syndrome "DO"] synonym: "acetyl-CoA:alpha-glucosaminide N-acetyltransferase deficiencies" EXACT [] synonym: "acetyl CoA:alpha glucosaminide N-acetyltransferase deficiency" EXACT [] synonym: "Heparan Sulfate Sulfatase Deficiency" EXACT [] synonym: "Mucopolysaccharidosis 3" EXACT [] synonym: "mucopolysaccharidosis, MPS-III" EXACT [] synonym: "N-acetyl-alpha-D-glucosaminidase deficiencies" EXACT [] synonym: "N Acetyl alpha D Glucosaminidase Deficiency" EXACT [] synonym: "NAGLU deficiencies" EXACT [] synonym: "NAGLU Deficiency" EXACT [] synonym: "N-sulphoglucosamine sulphohydrolase deficiency" EXACT [] synonym: "Polydystrophic Oligophrenia" EXACT [] synonym: "Polydystrophic Oligophrenias" EXACT [] synonym: "San Filippo's Syndrome" EXACT [] synonym: "Sanfilippo's Syndrome" EXACT [] synonym: "SANFILIPPO DISEASE" EXACT [] synonym: "San Filippos Syndrome" EXACT [] synonym: "Sanfilippos Syndrome" EXACT [] synonym: "San Filippo Syndrome" EXACT [] synonym: "Sanfilippo syndrome" EXACT [] synonym: "Sanfilippo syndromes" EXACT [] synonym: "sulfamidase deficiencies" EXACT [] synonym: "sulfamidase deficiency" EXACT [] xref: MESH:D009084 xref: NCI:C61262 xref: NCI:C84897 xref: NCI:C84898 xref: ORDO:581 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12802 name: mucopolysaccharidosis I alt_id: OMIA:000664 def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis#MPS_I "DO"] synonym: "alpha-L-Iduronidase Deficiencies" EXACT [] synonym: "alpha L Iduronidase Deficiency" EXACT [] synonym: "Hurler Scheie Syndrome" EXACT [] synonym: "IDUA-RELATED CONDITION" EXACT [] synonym: "iduronidase deficiency disease" EXACT [] synonym: "Lipochondrodystrophies" EXACT [] synonym: "Lipochondrodystrophy" EXACT [] synonym: "Mucopolysaccharidosis 1" EXACT [] synonym: "Mucopolysaccharidosis, MPS-I" EXACT [SNOMEDCT_2005_07_31:75610003] synonym: "mucopolysaccharidosis type 1" EXACT [] synonym: "mucopolysaccharidosis type I" EXACT [] xref: GARD:10335 xref: MESH:D008059 xref: NCI:C85053 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12803 name: Sly syndrome alt_id: MIM:253220 alt_id: OMIA:000667 def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme beta-glucuronidase resulting in the inability to degrade glucuronic acid-containing glycosaminoglycans. (DO)" [http://en.wikipedia.org/wiki/Mucopolysaccharidosis_VII "DO", http://omim.org/entry/253220 "DO"] synonym: "beta-glucuronidase deficiencies" EXACT [] synonym: "beta Glucuronidase Deficiency" EXACT [] synonym: "deficiency of beta-glucuronidase" EXACT [] synonym: "GUSB deficiencies" EXACT [] synonym: "GUSB Deficiency" EXACT [] synonym: "MPS7" EXACT [] synonym: "MPS VII" EXACT [] synonym: "MPS VII - Sly syndrome" EXACT [] synonym: "Mucopolysaccharidosis 7" EXACT [] synonym: "mucopolysaccharidosis type VII" EXACT [] synonym: "mucopolysaccharidosis VII" EXACT [] synonym: "Sly disease" EXACT [] xref: ICD10CM:E76.29 xref: MESH:D016538 xref: NCI:C84903 is_a: DOID:12798 ! mucopolysaccharidosis is_a: DOID:225 ! syndrome [Term] id: DOID:12804 name: mucopolysaccharidosis IV def: "A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzymes galactose 6-sulfate sulfatase (Type A) or beta-galactosidase (Type B) needed to break down the keratan sulfate sugar chain. (DO)" [http://en.wikipedia.org/wiki/Morquio_syndrome "DO"] synonym: "chondroosteodystrophy" NARROW [] synonym: "deficiency of chondroitinsulphatase" EXACT [] synonym: "deficiency of N-acetylgalactosamine-6-sulphatase" EXACT [] synonym: "Eccentroosteochondrodysplasia" EXACT [] synonym: "eccentro osteochondrodysplasia" EXACT [] synonym: "Eccentroosteochondrodysplasias" EXACT [] synonym: "eccentro-osteochondrodysplasias" EXACT [] synonym: "Galactosamine-6-Sulfatase Deficiencies" EXACT [] synonym: "Galactosamine 6 Sulfatase Deficiency" EXACT [] synonym: "Morquio's Disease" EXACT [] synonym: "Morquio's Syndrome" EXACT [] synonym: "Morquio Disease" EXACT [] synonym: "Morquios Disease" EXACT [] synonym: "Morquios Syndrome" EXACT [] synonym: "Morquio Syndrome" EXACT [] synonym: "Morquio Syndromes" EXACT [] synonym: "Mucopolysaccharidosis 4" EXACT [] synonym: "mucopolysaccharidosis, MPS-IV" EXACT [] synonym: "mucopolysaccharidosis type IV" EXACT [] synonym: "osteochondrodystrophy" NARROW [] xref: ICD10CM:E76.219 xref: MESH:D009085 xref: NCI:C61263 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:12809 name: chronic lacrimal gland enlargement synonym: "chronic enlargement of lacrimal gland" EXACT [] xref: ICD10CM:H04.03 xref: ICD9CM:375.03 is_a: DOID:950 ! dacryoadenitis is_a: DOID:9938 ! dacryocystitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:1283 name: enterocele def: "A prolapse of female genital organ that is characterized by the descent of a peritoneal sac containing small bowel into the rectovagnial space causing a bulge in the posterior vaginal wall. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8202302 "DO"] synonym: "hernia" EXACT [] synonym: "hernias" EXACT [] synonym: "vaginal enterocele" NARROW [] xref: EFO:0020006 xref: ICD10CM:K46 xref: ICD9CM:618.6 xref: MESH:D006547 is_a: DOID:1284 ! prolapse of female genital organ is_a: DOID:1285 ! rectal disease is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:12835 name: quadriplegia def: "Severe or complete loss of motor function in all four limbs which may result from BRAIN DISEASES; SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or rarely MUSCULAR DISEASES. The locked-in syndrome is characterized by quadriplegia in combination with cranial muscle paralysis. Consciousness is spared and the only retained voluntary motor activity may be limited eye movements. This condition is usually caused by a lesion in the upper BRAIN STEM which injures the descending cortico-spinal and cortico-bulbar tracts." [MESH:D011782] synonym: "Flaccid Quadriplegia" EXACT [] synonym: "flaccid quadriplegias" EXACT [] synonym: "Flaccid Tetraplegia" EXACT [] synonym: "Flaccid Tetraplegias" EXACT [] synonym: "Paralysis, Spinal, Quadriplegic" EXACT [] synonym: "Quadripareses" EXACT [] synonym: "Quadriparesis" EXACT [] synonym: "Quadriplegias" EXACT [] synonym: "Spastic Quadriplegia" EXACT [] synonym: "Spastic Quadriplegias" EXACT [] synonym: "Spastic Tetraplegia" EXACT [] synonym: "Spastic Tetraplegias" EXACT [] synonym: "Tetraplegia" EXACT [] synonym: "tetraplegias" EXACT [] xref: EFO:0009684 xref: ICD10CM:G82.5 xref: ICD9CM:344.00 xref: MESH:D011782 xref: NCI:C50721 is_a: DOID:331 ! central nervous system disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:12836 name: senile entropion synonym: "involutional entropion" EXACT [] xref: ICD9CM:374.01 is_a: DOID:12397 ! entropion [Term] id: DOID:12837 name: thyroid crisis def: "A dangerous life-threatening hypermetabolic condition characterized by high FEVER and dysfunction of the cardiovascular, the nervous, and the gastrointestinal systems." [MESH:D013958] synonym: "Thyroid Storm" EXACT [] synonym: "Thyrotoxic Crisis" EXACT [] synonym: "Thyrotoxic Storm" EXACT [] xref: EFO:1001212 xref: MESH:D013958 xref: NCI:C112836 is_a: DOID:50 ! thyroid gland disease is_a: DOID:7997 ! thyrotoxicosis [Term] id: DOID:1284 name: prolapse of female genital organ def: "A female reproductive system disease that is characterized by the descent of one or more of the pelvic structures (bladder, uterus, vagina) from the normal anatomic location toward or through the vaginal opening. (DO)" [https://www.aafp.org/afp/2010/0501/p1111.html "DO"] xref: ICD9CM:618.8 is_a: DOID:229 ! female reproductive system disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:12841 name: ancylostomiasis def: "A parasitic helminthiasis infectious disease that involves infection of skin, eyes, and viscera in humans by the parasitic nematodes Ancylostoma braziliense, Ancylostoma ceylanicum, Ancylostoma duodenale or Ancylostoma caninum. The larvae cause lesions on the skin at the site of penetration. The infection has_symptom intestinal bleeding, has_symptom abdominal pain, has_symptom anemia, has_symptom severe diarrhea and has_symptom malnutrition. (DO)" [http://en.wikipedia.org/wiki/Ancylostomiasis "DO"] synonym: "ancylostomiases" EXACT [] xref: EFO:0007145 xref: GARD:9742 xref: ICD10CM:B76.0 xref: MESH:D000724 xref: NCI:C35805 is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease is_a: DOID:9006535 ! Hookworm Infections [Term] id: DOID:12842 name: Guillain-Barre syndrome alt_id: MIM:139393 def: "An autoimmune disease of peripheral nervous system that causes body's immune system to attack part of the peripheral nervous system. (DO)" [http://www.ninds.nih.gov/disorders/gbs/gbs.htm "DO"] synonym: "acute autoimmune neuropathies" EXACT [] synonym: "Acute Autoimmune Neuropathy" EXACT [] synonym: "Acute Infectious Polyneuritis" EXACT [] synonym: "acute infective polyneuritis" EXACT [] synonym: "acute inflammatory demyelinating polyneuropathy" NARROW [] synonym: "Acute Inflammatory Demyelinating Polyradiculoneuropathy" EXACT [] synonym: "acute inflammatory demyelinating polyradiculopathy" EXACT [] synonym: "Acute Inflammatory Polyneuropathies" EXACT [] synonym: "Acute Inflammatory Polyneuropathy" EXACT [] synonym: "Acute Inflammatory Polyradiculoneuropathies" EXACT [] synonym: "Acute Inflammatory Polyradiculoneuropathy" EXACT [] synonym: "acute postinfectious polyneuropathy" EXACT [] synonym: "AIDP POLYNEUROPATHY, INFLAMMATORY DEMYELINATING, CHRONIC" NARROW [] synonym: "CIDP" NARROW [] synonym: "GBS" EXACT [] synonym: "Guillain-Barre Syndrome, Familial" EXACT [] synonym: "Guillain-Barré Syndrome" EXACT [] synonym: "Guillaine Barre Syndrome" EXACT [] synonym: "infectious neuronitis" EXACT [] synonym: "Inflammatory Polyneuropathy Acutes" EXACT [] synonym: "Landry Guillain Barre Syndrome" EXACT [] synonym: "post-infectious polyneuritis" EXACT [] synonym: "postinfectious polyneuritis" EXACT [] xref: EFO:0007292 xref: GARD:6554 xref: MESH:D020275 xref: NCI:C116345 is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:225 ! syndrome is_a: DOID:4308 ! polyradiculoneuropathy [Term] id: DOID:12849 name: autistic disorder alt_id: MIM:209850 alt_id: MIM:300425 alt_id: MIM:300495 alt_id: MIM:300496 alt_id: MIM:300830 alt_id: MIM:300847 alt_id: MIM:300872 alt_id: MIM:607373 alt_id: MIM:608049 alt_id: MIM:608636 alt_id: MIM:609378 alt_id: MIM:610676 alt_id: MIM:610836 alt_id: MIM:610838 alt_id: MIM:610908 alt_id: MIM:611015 alt_id: MIM:611016 alt_id: MIM:612100 alt_id: MIM:613410 alt_id: MIM:613436 alt_id: MIM:615091 alt_id: MIM:618830 def: "An autism spectrum disorder that is characterized by symptoms across all three symptom domains (communication, social, restricted repetitive interests and behaviors), delayed language development, and symptom onset prior to age 3 years. (DO)" [http://en.wikipedia.org/wiki/Autism "DO", http://www.neurodevnet.ca "DO"] synonym: "autism" EXACT [] synonym: "autism 1" NARROW [] synonym: "Autism-Speech Delay" RELATED [] synonym: "autism, susceptibility to, 10" RELATED [] synonym: "autism, susceptibility to, 11" RELATED [] synonym: "autism, susceptibility to, 12" RELATED [] synonym: "autism, susceptibility to, 13" RELATED [] synonym: "autism, susceptibility to, 15" RELATED [] synonym: "autism, susceptibility to, 16" RELATED [] synonym: "autism, susceptibility to, 17" RELATED [] synonym: "autism, susceptibility to,19" RELATED [] synonym: "autism, susceptibility to, 20" RELATED [] synonym: "autism, susceptibility to, 3" RELATED [] synonym: "autism, susceptibility to, 7" RELATED [] synonym: "autism, susceptibility to, 8" RELATED [] synonym: "autism, susceptibility to, 9" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 1" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 2" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 3" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 4" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 5" RELATED [] synonym: "Autism, Susceptibility to, X-Linked 6" RELATED [] synonym: "AUTISM WITH OR WITHOUT SEIZURES" EXACT [] synonym: "autistic behavior" EXACT [] synonym: "AUTISTIC DISORDER AUTISM, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "AUTISTIC DISORDER OF CHILDHOOD ONSET" EXACT [] synonym: "autistic disorders" EXACT [] synonym: "AUTS1" RELATED [] synonym: "AUTS10" RELATED [] synonym: "AUTS11" RELATED [] synonym: "AUTS12" RELATED [] synonym: "AUTS13" RELATED [] synonym: "AUTS15" RELATED [] synonym: "AUTS16" RELATED [] synonym: "AUTS17" RELATED [] synonym: "AUTS19" RELATED [] synonym: "AUTS2" RELATED [] synonym: "AUTS20" RELATED [] synonym: "AUTS2-RELATED CONDITION" BROAD [] synonym: "AUTS3" RELATED [] synonym: "AUTS4" RELATED [] synonym: "AUTS7" RELATED [] synonym: "AUTS8" RELATED [] synonym: "AUTS9" RELATED [] synonym: "AUTSX1" RELATED [] synonym: "AUTSX2" RELATED [] synonym: "AUTSX3" RELATED [] synonym: "AUTSX4" RELATED [] synonym: "AUTSX5" RELATED [] synonym: "AUTSX6" RELATED [] synonym: "CHD8-RELATED DISORDER" NARROW [] synonym: "CHD8-RELATED DISORDERS" NARROW [] synonym: "childhood autism" EXACT [] synonym: "CHROMOSOME 15q11.2 DUPLICATION SYNDROME" NARROW [] synonym: "CHROMOSOME 15q11-q13 DUPLICATION SYNDROME" EXACT [] synonym: "CHROMOSOME Xp22 DELETION SYNDROME" EXACT [] synonym: "DUPLICATION 15q11-q13 SYNDROME AUTISM, SUSCEPTIBILITY TO, 4" RELATED [] synonym: "early infantile autism" EXACT [] synonym: "epsilon-trimethyllysine hydroxylase deficiency" EXACT [] synonym: "infantile autism" EXACT [] synonym: "Kanner's syndrome" EXACT [] synonym: "Kanners syndrome" EXACT [] synonym: "Kanner syndrome" EXACT [] synonym: "NLGN1-RELATED CONDITION" EXACT [] synonym: "PTCHD1-RELATED CONDITION" EXACT [] synonym: "severe autism" NARROW [] synonym: "SLC9A9-RELATED CONDITION" NARROW [] synonym: "TMLHED" EXACT [] synonym: "X-linked mental retardation" NARROW [] xref: EFO:0003758 xref: ICD10CM:F84.0 xref: ICD9CM:299.0 xref: MESH:D001321 xref: MIM:PS209850 xref: NCI:C126692 xref: NCI:C97161 xref: ORDO:106 is_a: DOID:0060041 ! autism spectrum disorder [Term] id: DOID:1285 name: rectal disease alt_id: RDO:0004869 def: "Pathological developments in the RECTUM region of the large intestine (INTESTINE, LARGE)." [] synonym: "anorectal disease" EXACT [] synonym: "Anorectal Diseases" EXACT [] synonym: "Anorectal Disorder" EXACT [] synonym: "Anorectal Disorders" EXACT [] synonym: "Rectal Diseases" EXACT [] synonym: "Rectal Disorder" EXACT [] synonym: "rectal disorders" EXACT [] xref: EFO:0009685 xref: MESH:D012002 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:12857 name: Achilles bursitis synonym: "Achilles bursitis or tendinitis" EXACT [] synonym: "Capped hock" EXACT [] synonym: "Haglund's deformity" EXACT [] synonym: "Haglund's disease" EXACT [] xref: ICD10CM:M76.6 is_a: DOID:2965 ! bursitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12858 name: Huntington's disease alt_id: MIM:143100 def: "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities. (DO)" [http://en.wikipedia.org/wiki/Huntington_disease "DO", http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=118&Disease_Disease_Search_diseaseGroup=huntington&Disease_Disease_Search_diseaseType=Pat&Disease(s)%20concerned=Huntington-disease&title=Huntington-disease&search=Disease_Search_Simple "DO"] synonym: "akinetic rigid variant of Huntington disease" EXACT [] synonym: "HD" EXACT [] synonym: "Huntington's chorea" EXACT [] synonym: "Huntington chorea" EXACT [] synonym: "Huntington Chronic Progressive Hereditary Chorea" EXACT [] synonym: "Huntington disease" EXACT [] synonym: "Huntington Disease, Akinetic Rigid Variant" EXACT [] synonym: "juvenile Huntington disease" EXACT [] synonym: "juvenile onset Huntington disease" EXACT [] synonym: "late onset Huntington disease" EXACT [] xref: EFO:0000533 xref: GARD:6677 xref: ICD9CM:333.4 xref: MESH:D006816 xref: MONDO:0007739 xref: NCI:C147072 xref: NCI:C82342 is_a: DOID:12859 ! choreatic disease is_a: DOID:1307 ! dementia is_a: DOID:1561 ! cognitive disorder is_a: DOID:679 ! basal ganglia disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:12859 name: choreatic disease alt_id: MIM:118700 alt_id: OMIA:002084 def: "A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. (DO)" [http://en.wikipedia.org/wiki/Chorea "DO", http://www.ncbi.nlm.nih.gov/mesh?term=Choreatic%20Disorders "DO"] synonym: "BCH" EXACT [] synonym: "Benign Hereditary Chorea" EXACT [] synonym: "benign hereditary choreas" EXACT [] synonym: "BHC" EXACT [] synonym: "Chorea" EXACT [] synonym: "Chorea Disorder" EXACT [] synonym: "chorea disorders" EXACT [] synonym: "Choreas" EXACT [] synonym: "Chorea Syndrome" EXACT [] synonym: "Chorea Syndromes" EXACT [] synonym: "Choreatic Disorder" EXACT [] synonym: "Choreatic Disorders" EXACT [] synonym: "Choreatic Syndrome" EXACT [] synonym: "Choreatic Syndromes" EXACT [] synonym: "Choreic Movement" EXACT [] synonym: "Choreic Movements" EXACT [] synonym: "Choreiform Movement" EXACT [] synonym: "Choreiform Movements" EXACT [] synonym: "Chronic Progressive Chorea" EXACT [] synonym: "Chronic Progressive Choreas" EXACT [] synonym: "Hereditary Chorea" EXACT [] synonym: "Hereditary Choreas" EXACT [] synonym: "Hereditary Progressive Chorea Without Dementia" EXACT [] synonym: "Paroxysmal Dyskinesia" EXACT [] synonym: "Paroxysmal Dyskinesias" EXACT [] synonym: "Rheumatic Chorea" EXACT [] synonym: "Rheumatic Choreas" EXACT [] synonym: "Senile Chorea" EXACT [] synonym: "Senile Choreas" EXACT [] synonym: "St. Vitus's Dance" EXACT [] synonym: "St. Vitus's Dances" EXACT [] synonym: "St. Vitus Dance" EXACT [] synonym: "St. Vituss Dance" EXACT [] synonym: "Sydenham's chorea" EXACT [] synonym: "Sydenham chorea" EXACT [] synonym: "Sydenham choreas" EXACT [] synonym: "Sydenhams chorea" EXACT [] xref: EFO:0004152 xref: MESH:D002819 xref: ORDO:1429 is_a: DOID:480 ! movement disease is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:1287 name: cardiovascular system disease def: "A disease of anatomical entity which occurs in the blood, heart, blood vessels or the lymphatic system that passes nutrients (such as amino acids and electrolytes), gases, hormones, blood cells or lymph to and from cells in the body to help fight diseases and help stabilize body temperature and pH to maintain homeostasis. (DO)" [http://en.wikipedia.org/wiki/Circulatory_system "DO"] subset: RGD_JBrowse_slim synonym: "cardiovascular disease" EXACT [] synonym: "cardiovascular diseases" EXACT [] synonym: "disease of subdivision of hemolymphoid system" EXACT [] xref: EFO:0000319 xref: ICD9CM:429.2 xref: MESH:D002318 xref: NCI:C2931 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:12883 name: hypochondriasis def: "A somatoform disorder that involves an excessive preoccupation or worry about having a serious illness. (DO)" [http://en.wikipedia.org/wiki/Hypochondriasis "DO"] synonym: "hypochondria" EXACT [] synonym: "hypochondriacal disorder" EXACT [] synonym: "hypochondriacal neuroses" EXACT [] synonym: "hypochondriacal neurosis" EXACT [] xref: ICD10CM:F45.21 xref: ICD9CM:300.7 xref: MESH:D006998 xref: NCI:C9493 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:12889 name: Miller Fisher syndrome def: "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia. (DO)" [http://en.wikipedia.org/wiki/Miller_Fisher_syndrome#Classification "DO"] synonym: "Fisher's syndrome" EXACT [] synonym: "Fisher Syndrome" EXACT [] synonym: "Guillain Barre Syndrome, Miller Fisher Variant" EXACT [] synonym: "Miller Fisher variant of Guillain Barre syndrome" EXACT [] synonym: "ophthalmoplegia, ataxia and areflexia syndrome" EXACT [] xref: EFO:0007371 xref: GARD:3668 xref: ICD10CM:G61.0 xref: MESH:D019846 xref: NCI:C116958 is_a: DOID:1279 ! ocular motility disease is_a: DOID:12842 ! Guillain-Barre syndrome is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:1289 name: neurodegenerative disease def: "A central nervous system disease that results in the progressive deterioration of function or structure of neurons. (DO)" [http://en.wikipedia.org/wiki/Degenerative_disease "DO", http://en.wikipedia.org/wiki/Neurodegeneration "DO"] synonym: "central nervous system degenerative diseases" EXACT [] synonym: "degenerative disease" EXACT [] synonym: "Degenerative Neurologic Disease" EXACT [] synonym: "degenerative neurologic diseases" EXACT [] synonym: "Degenerative Neurologic Disorder" EXACT [] synonym: "degenerative neurologic disorders" EXACT [] synonym: "Nervous System Degenerative Diseases" EXACT [] synonym: "Neurodegenerative Diseases" EXACT [] synonym: "Neurodegenerative Disorder" EXACT [] synonym: "Neurodegenerative Disorders" EXACT [] synonym: "Neurodegenerative illness progressing to crippling dystonia and death with relentless cerebral atrophy" NARROW [] synonym: "neurologic degenerative condition" EXACT [] synonym: "neurologic degenerative conditions" EXACT [] synonym: "progressive neurodegenerative disease" NARROW [] synonym: "severe cystic degeneration of the brain" NARROW [] synonym: "spinal cord degenerative diseases" EXACT [] synonym: "subacute myelo-opticoneuropathy" NARROW [] synonym: "TMEM63B-ASSOCIATED DISORDER" BROAD [] xref: EFO:0005772 xref: EFO:0020919 xref: ICD10CM:G31.9 xref: MESH:D019636 xref: NCI:C27090 is_a: DOID:331 ! central nervous system disease is_a: DOID:863 ! nervous system disease [Term] id: DOID:12894 name: Sjogren's syndrome alt_id: MIM:270150 def: "An autoimmune disease that involves attack of immune cells which destroy the exocrine glands that produce tears and saliva. (DO)" [http://en.wikipedia.org/wiki/Sj%C3%B6gren%27s_syndrome "DO"] synonym: "Sicca Syndrome" EXACT [] synonym: "Sjogrens Syndrome" EXACT [] synonym: "Sjogren Syndrome" EXACT [] synonym: "xerodermosteosis" EXACT [] xref: EFO:0000699 xref: GARD:10252 xref: ICD10CM:M35.0 xref: ICD9CM:710.2 xref: MESH:D012859 xref: NCI:C26883 xref: NCI:C70647 is_a: DOID:0060029 ! autoimmune disease of exocrine system is_a: DOID:10140 ! dry eye syndrome is_a: DOID:7148 ! rheumatoid arthritis is_a: DOID:9006511 ! Xerostomia [Term] id: DOID:12895 name: keratoconjunctivitis sicca def: "Drying and inflammation of the conjunctiva as a result of insufficient lacrimal secretion. When found in association with XEROSTOMIA and polyarthritis, it is called SJOGREN'S SYNDROME." [MESH:D007638] synonym: "KCS" EXACT [] xref: EFO:1000906 xref: GARD:8444 xref: MESH:D007638 is_a: DOID:10140 ! dry eye syndrome is_a: DOID:9368 ! keratoconjunctivitis [Term] id: DOID:12897 name: submandibular gland disease def: "Diseases involving the SUBMANDIBULAR GLAND." [MESH:D013364] synonym: "submandibular gland diseases" EXACT [] xref: MESH:D013364 xref: RDO:0006641 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:12899 name: benign lymphoepithelial lesion of salivary gland synonym: "Godwin tumor" EXACT [] xref: NCI:C3949 xref: RDO:9004891 is_a: DOID:10854 ! salivary gland disease is_a: DOID:9003216 ! Salivary Gland Neoplasms created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:12900 name: Mikulicz disease def: "An autoimmune disease that is characterized by chronic enlargement of the glands of the head and neck, has_symptom lumps of the face and neck, dry eyes, dry mouth, and intermittent fever, and is often associated with an underlying autoimmune disorder, hematologic malignancy, tuberculosis infection, or syphilis infection. (DO)" [https://rarediseases.org/rare-diseases/mikulicz-syndrome/ "DO"] synonym: "IgG4-related dacryoadenitis and sialadenitis" EXACT [] synonym: "Mikulicz's disease" EXACT [] xref: EFO:0000699 xref: GARD:7043 xref: ICD10CM:K11.8 xref: MESH:D008882 xref: NCI:C34819 is_a: DOID:0060030 ! autoimmune disease of eyes, ear, nose and throat is_a: DOID:10854 ! salivary gland disease is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:12901 name: necrotizing sialometaplasia def: "A benign, inflammatory, variably ulcerated, occasionally bilateral, self-healing lesion of the minor salivary glands that is often confused clinically and histologically with carcinoma." [MESH:D012797] synonym: "Necrotizing Sialometaplasias" EXACT [] xref: EFO:1001057 xref: MESH:D012797 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:12904 name: mucocele of salivary gland def: "A form of retention cyst of the floor of the mouth, usually due to obstruction of the ducts of the submaxillary or sublingual glands, presenting a slowly enlarging painless deep burrowing mucocele of one side of the mouth. It is also called sublingual cyst and sublingual ptyalocele." [MESH:D011900] synonym: "mucous retention cyst of salivary gland" EXACT [] synonym: "ranula" EXACT [] synonym: "ranulas" EXACT [] synonym: "salivary cyst" EXACT [] synonym: "salivary gland mucocele" EXACT [] xref: ICD10CM:K11.6 xref: ICD9CM:527.6 xref: MESH:D011900 xref: NCI:C127828 xref: NCI:C27649 is_a: DOID:10854 ! salivary gland disease is_a: DOID:9004508 ! Mucocele [Term] id: DOID:12905 name: sialolithiasis def: "Calculi occurring in a salivary gland. Most salivary gland calculi occur in the submandibular gland, but can also occur in the parotid gland and in the sublingual and minor salivary glands." [MESH:D015494] synonym: "Salivary Gland Calculi" EXACT [] synonym: "Salivary Gland Calculus" EXACT [] synonym: "Salivary Gland Stone" EXACT [] synonym: "Salivary Gland Stones" EXACT [] synonym: "Sialolith" EXACT [] synonym: "Sialoliths" EXACT [] synonym: "stone of salivary gland or duct" EXACT [] xref: EFO:1001180 xref: ICD10CM:K11.5 xref: ICD9CM:527.5 xref: MESH:D015494 is_a: DOID:10854 ! salivary gland disease is_a: DOID:9001730 ! Salivary Calculi [Term] id: DOID:12918 name: thromboangiitis obliterans alt_id: MIM:211480 def: "A non-atherosclerotic, inflammatory thrombotic disease that commonly involves small and medium-sized arteries or veins in the extremities. It is characterized by occlusive THROMBOSIS and FIBROSIS in the vascular wall leading to digital and limb ISCHEMIA and ulcerations. Thromboangiitis obliterans is highly associated with tobacco smoking." [MESH:D013919] synonym: "Buerger's disease" EXACT [] synonym: "Buerger disease" EXACT [] synonym: "Buergers disease" EXACT [] synonym: "presenile gangrene" EXACT [] synonym: "thromboangitis obliterans" EXACT [] xref: EFO:1001211 xref: ICD10CM:I73.1 xref: ICD9CM:443.1 xref: MESH:D013919 xref: NCI:C35070 is_a: DOID:341 ! peripheral vascular disease is_a: DOID:865 ! vasculitis is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:12919 name: Plasmodium ovale malaria def: "A malaria characterized as a relatively mild form caused by a parasite Plasmodium ovale, which is characterized by tertian chills and febrile paroxysms, and that ends spontaneously. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ovale%20malaria "DO"] synonym: "Malariaby Plasmodium ovale" EXACT [MTHICD9_2006:084.3] synonym: "Ovale malaria" EXACT [SNOMEDCT_2005_07_31:19341001] xref: ICD10CM:B53.0 xref: ICD9CM:084.3 is_a: DOID:12365 ! malaria created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:12926 name: hypodermyiasis def: "A myiasis that involves parasitic infestation of warble flies of the genus Hypoderma, on cattle and deer and Dermatobia hominis on humans. The larvae of human botfly, Dermatobia hominis, feed in a subdermal cavity causing cutaneous swellings on the body or scalp that may produce discharges and be painful. (DO)" [http://en.wikipedia.org/wiki/Dermatobia_hominis "DO", http://en.wikipedia.org/wiki/Hypodermyiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"] synonym: "hypodermyiases" EXACT [] xref: EFO:0007320 xref: GARD:2883 xref: MESH:D007000 is_a: DOID:11080 ! myiasis [Term] id: DOID:12927 name: screw worm infectious disease def: "A myiasis that involves parasitic infestation of Cochliomyia hominivorax or Chrysomya bezziana larvae, which feed on the living tissues of warm-blooded animals. In Cochliomyia infestation, larvae migrate from the subdermis to other tissues in the body, causing extreme damage in the process. Chrysomya bezziana larvae feed and can cause permanent tissue damage. (DO)" [http://en.wikipedia.org/wiki/Chrysomya_bezziana "DO", http://www.dpd.cdc.gov/dpdx/HTML/Myiasis.htm "DO"] synonym: "screw worm infection" EXACT [] synonym: "screw worm infections" EXACT [] xref: EFO:0007479 xref: MESH:D012610 is_a: DOID:11080 ! myiasis [Term] id: DOID:12929 name: endocardial fibroelastosis alt_id: MIM:226000 def: "An endocardium disease that is characterized by a thickening of the inmost lining of the heart chambers due to an increase in the amount of supporting connective tissue and elastic fibers. (DO)" [http://en.wikipedia.org/wiki/Endocardial_fibroelastosis "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/219/viewAbstract "DO"] synonym: "elastomyofibrosis" EXACT [] synonym: "endocardial fibroelastoses" EXACT [] synonym: "endomyocardial fibroelastosis" EXACT [] xref: EFO:0007251 xref: GARD:2121 xref: GARD:6336 xref: ICD10CM:I42.4 xref: ICD9CM:425.3 xref: MESH:D004695 xref: NCI:C98922 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0050825 ! endocardium disease [Term] id: DOID:1293 name: labia minora carcinoma def: "A vulva carcinoma that is located_in the labia minora. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13733610 "DO"] synonym: "carcinoma of labia minora" EXACT [] xref: NCI:C9364 is_a: DOID:1243 ! labia minora cancer is_a: DOID:1294 ! vulva carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:12930 name: dilated cardiomyopathy def: "An intrinsic cardiomyopathy that is characterized by an an enlarged heart and damage to the myocardium causing the heart to pump blood inefficiently. (DO)" [http://en.wikipedia.org/wiki/Dilated_cardiomyopathy "DO"] synonym: "ANKRD1-related condition" BROAD [] synonym: "ANKRD1-related dilated cardiomyopathy" NARROW [] synonym: "autosomal dominant dilated cardiomyopathy" NARROW [] synonym: "congestive cardiomyopathies" EXACT [] synonym: "congestive cardiomyopathy" EXACT [] synonym: "dilated cardiomyopathies" EXACT [] synonym: "dilated cardiomyopathy, and heart failure" NARROW [] synonym: "dilated cardiomyopathy, autosomal recessive" NARROW [] synonym: "dilated cardiomyopathy, dominant" NARROW [] synonym: "dilated cardiomyopathy, recessive" NARROW [] synonym: "familial dilated cardiomyopathy" NARROW [] synonym: "familial idiopathic cardiomyopathies" NARROW [] synonym: "familial idiopathic cardiomyopathy" NARROW [] synonym: "fatal cardiomyopathy" NARROW [] synonym: "fatal cardiomyopathy, infantile" NARROW [] synonym: "FDC" NARROW [] synonym: "IDCM" NARROW [] synonym: "idiopathic dilated cardiomyopathies" NARROW [] synonym: "idiopathic dilated cardiomyopathy" NARROW [] synonym: "idiopathic dilation cardiomyopathy" NARROW [] synonym: "LEFT VENTRICULAR DILATATION" EXACT [] synonym: "left ventricular noncompaction 4" NARROW [] synonym: "LVNC4" NARROW [] synonym: "NEONATAL CARDIOMYOPATHY" NARROW [] synonym: "primary dilated cardiomyopathy" NARROW [] xref: EFO:0000372 xref: EFO:0000407 xref: EFO:0009094 xref: EFO:0009142 xref: EFO:0010953 xref: GARD:221 xref: MESH:D002311 xref: MIM:PS115200 xref: NCI:C84673 xref: ORDO:217604 is_a: DOID:0060036 ! intrinsic cardiomyopathy is_a: DOID:9003936 ! Cardiomegaly [Term] id: DOID:12932 name: endomyocardial fibrosis def: "A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE)." [MESH:D004719] synonym: "African endomyocardial fibrosis" EXACT [] synonym: "Becker's disease" EXACT [] synonym: "Endomyocardial Fibroses" EXACT [] synonym: "endomyocardial sclerosis" EXACT [] synonym: "obscure African cardiomyopathy" EXACT [] xref: EFO:1000921 xref: GARD:6340 xref: ICD9CM:425.0 xref: MESH:D004719 xref: NCI:C34585 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:397 ! restrictive cardiomyopathy [Term] id: DOID:12934 name: Kearns-Sayre syndrome def: "A mitochondrial disorder featuring the triad of chronic progressive EXTERNAL OPHTHALMOPLEGIA, cardiomyopathy (CARDIOMYOPATHIES) with conduction block (HEART BLOCK), and RETINITIS PIGMENTOSA. Disease onset is in the first or second decade. Elevated CSF protein, sensorineural deafness, seizures, and pyramidal signs may also be present. Ragged-red fibers are found on muscle biopsy. (Adams et al., Principles of Neurology, 6th ed, p984)" [MESH:D007625] synonym: "chronic progressive external ophthalmoplegia with myopathy" EXACT [] synonym: "CPEO with myopathies" EXACT [] synonym: "CPEO with Myopathy" EXACT [] synonym: "CPEO With Ragged-Red Fibers" EXACT [] synonym: "Kearn Sayre Mitochondrial Cytopathy" EXACT [] synonym: "Kearns-Sayre Mitochondrial Cytopathy" EXACT [] synonym: "Kearns Sayre Shy Daroff Syndrome" EXACT [] synonym: "Kearns Syndrome" EXACT [] synonym: "Kearn Syndrome" EXACT [] synonym: "KSS" EXACT [] synonym: "Oculocraniosomatic Syndrome" EXACT [] synonym: "oculocraniosomatic syndromes" EXACT [] synonym: "Ophthalmoplegia, Pigmentary Degeneration of Retina, and Cardiomyopathy" EXACT [] synonym: "ophthalmoplegia plus syndrome" EXACT [] synonym: "ophthalmoplegia plus syndromes" EXACT [] synonym: "progressive external ophthalmoplegia with ragged-red fibers" EXACT [] xref: GARD:6817 xref: ICD10CM:H49.81 xref: MESH:D007625 xref: MIM:530000 xref: MONDO:0010787 xref: NCI:C84798 xref: ORDO:480 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:12558 ! chronic progressive external ophthalmoplegia is_a: DOID:225 ! syndrome is_a: DOID:9003594 ! Mitochondrial Cytopathy [Term] id: DOID:12935 name: alcoholic cardiomyopathy def: "Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE)." [MESH:D002310] synonym: "alcohol-induced heart muscle disease" EXACT [] synonym: "dilated cardiomyopathy secondary to alcohol" EXACT [] xref: EFO:1000801 xref: ICD10CM:I42.6 xref: ICD9CM:425.5 xref: MESH:D002310 xref: NCI:C53653 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:3978 ! extrinsic cardiomyopathy is_a: DOID:9004354 ! Alcohol-Related Disorders [Term] id: DOID:1294 name: vulva carcinoma def: "A vulva cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://www.cancer.gov/cancertopics/types/vulvar "DO"] synonym: "carcinoma of vulva" EXACT [] synonym: "EFO:0002921" EXACT [] synonym: "vulvar carcinoma" EXACT [] xref: EFO:0002921 xref: NCI:C4866 is_a: DOID:1245 ! vulva cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:12958 name: paralytic lagophthalmos xref: ICD10CM:H02.23 xref: ICD9CM:374.21 is_a: DOID:12959 ! lagophthalmos created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12959 name: lagophthalmos xref: ICD10CM:H02.2 xref: ICD9CM:374.2 xref: MESH:D000092164 is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:12960 name: acrocephalosyndactylia alt_id: MIM:101200 def: "A synostosis that results_in craniosynostosis and syndactyly. (DO)" [http://en.wikipedia.org/wiki/Acrocephalosyndactylia "DO"] synonym: "acrocephalosyndactylias" EXACT [] synonym: "Acrocephalosyndactylies, Type 1" EXACT [] synonym: "Acrocephalosyndactyly (Apert)" EXACT [] synonym: "Acrocephalosyndactyly, Type 1" EXACT [] synonym: "ACROCEPHALOSYNDACTYLY, TYPE II" NARROW [] synonym: "Acrocephaly, Skull Asymmetry, and Mild Syndactyly" EXACT [] synonym: "ACROCEPHALY, SKULL ASYMMETRY, AND MILD SYNDACTYLY SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES" NARROW [] synonym: "ACS1" EXACT [] synonym: "ACS I APERT-CROUZON DISEASE" NARROW [] synonym: "ACS II" NARROW [] synonym: "Apert Crouzon Disease" EXACT [] synonym: "Apert Syndrome" EXACT [] synonym: "Craniofacial-Skeletal-Dermatologic Dysplasia" EXACT [] synonym: "Dysostosis Craniofacialis with Hypertelorism" EXACT [] synonym: "Kurczynski Casperson Syndrome" EXACT [] synonym: "Noack Syndrome" EXACT [] synonym: "Noack Syndromes" EXACT [] synonym: "Syndactylic Oxycephalies" EXACT [] synonym: "Syndactylic Oxycephaly" EXACT [] synonym: "Type I Acrocephalosyndactylies" EXACT [] synonym: "Type I Acrocephalosyndactyly" EXACT [] synonym: "Type II Acrocephalosyndactylies" EXACT [] synonym: "VOGT cephalodactyly" NARROW [] xref: EFO:0004123 xref: ICD9CM:755.55 xref: MESH:D000168 xref: MONDO:0019796 xref: NCI:C34348 xref: NCI:C99099 is_a: DOID:11193 ! syndactyly is_a: DOID:11971 ! synostosis is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:12961 name: Poland syndrome alt_id: MIM:173800 def: "A physical disorder that is characterized by missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25831684 "DO"] synonym: "Poland's syndactyly" EXACT [] synonym: "Poland anomaly" EXACT [] synonym: "Poland sequence" EXACT [] synonym: "Poland syndactyly" EXACT [] xref: GARD:7412 xref: ICD10CM:Q79.8 xref: MESH:D011045 xref: NCI:C85017 is_a: DOID:0080015 ! physical disorder is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome [Term] id: DOID:12965 name: subleukemic leukemia def: "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal. (DO)" [http://medical-dictionary.thefreedictionary.com/subleukemic+leukemia "DO"] is_a: DOID:1240 ! leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12969 name: central nervous system leukemia def: "A leukemia located_in the central nervous system. (DO)" [http://www.springerlink.com/content/gl61tx644217n938/ "DO"] synonym: "leukemia of the CNS" EXACT [] xref: MONDO:0001606 xref: NCI:C5440 is_a: DOID:1240 ! leukemia is_a: DOID:5772 ! central nervous system hematologic cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:12971 name: hereditary spherocytosis alt_id: MESH:C536356 def: "A congenital hemolytic anemia characterized by the production of red blood cells with a sphere shape, rather than the normal biconcave disk shape. (DO)" [http://en.wikipedia.org/wiki/Hereditary_spherocytosis "DO", https://research.nhgri.nih.gov/RBCmembrane/ "DO"] synonym: "acholuric jaundice" EXACT [] synonym: "chronic acholuric jaundice" EXACT [] synonym: "congenital hemolytic jaundice" EXACT [] synonym: "congenital spherocytic hemolytic anemia" EXACT [] synonym: "congenital spherocytosis" EXACT [] synonym: "Debrie's familial haemolytic disease" EXACT [] synonym: "dominant spherocytosis" NARROW [] synonym: "hereditary spherocytic hemolytic anemia" EXACT [] synonym: "hereditary spherocytoses" EXACT [] synonym: "HS" EXACT [] synonym: "Minkowski-Chauffard disease" EXACT [] synonym: "Minkowski-Chauffard-Gänsslen syndrome" EXACT [] synonym: "Minkowski-Chauffard haemolytic jaundice" EXACT [] synonym: "Minkowski Chauffard syndrome" EXACT [] synonym: "recessive spherocytosis" NARROW [] synonym: "spherocytic anemia" EXACT [] synonym: "SPHEROCYTOSIS" BROAD [] xref: EFO:0011064 xref: GARD:6639 xref: ICD10CM:D58.0 xref: ICD9CM:282.0 xref: MESH:D013103 xref: NCI:C97074 xref: ORDO:822 is_a: DOID:13603 ! obstructive jaundice is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:12972 name: intrapelvic lymph node leukemic reticuloendotheliosis synonym: "leukemic reticuloendotheliosis involving intrapelvic lymph nodes" EXACT [] synonym: "leukemic reticuloendotheliosis of intrapelvic lymph nodes" EXACT [] xref: ICD9CM:202.46 is_a: DOID:10619 ! lymph node cancer is_a: DOID:285 ! hairy cell leukemia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:12978 name: Plasmodium vivax malaria alt_id: MIM:110700 def: "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vivax+malaria "DO"] synonym: "malaria by Plasmodium vivax" EXACT [] synonym: "resistance to Plasmodium vivax infection" RELATED [] synonym: "vivax malaria" EXACT [] xref: EFO:0007445 xref: ICD10CM:B51 xref: ICD9CM:084.1 xref: MESH:D016780 xref: NCI:C34800 is_a: DOID:12365 ! malaria [Term] id: DOID:12984 name: vagus nerve neoplasm synonym: "neoplasm of vagus nerve" EXACT [] synonym: "vagus nerve tumors" EXACT [] xref: NCI:C5831 is_a: DOID:2815 ! cranial nerve malignant neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:12986 name: leukostasis def: "Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs." [MESH:D018921] synonym: "Leukostases" EXACT [] synonym: "Leukostasis Syndrome" EXACT [] synonym: "Leukostasis Syndromes" EXACT [] xref: EFO:1001016 xref: MESH:D018921 xref: MONDO:0006831 xref: NCI:C4062 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:12987 name: agranulocytosis def: "A leukopenia that is characterized by a severe lack of of granulocytes with a drop in granulocyte concentration below 200 cells/mm³ of blood. (DO)" [https://en.wikipedia.org/wiki/Agranulocytosis "DO"] synonym: "Agranulocytoses" EXACT [] synonym: "Granulocytopenia" EXACT [] synonym: "Granulocytopenias" EXACT [] synonym: "granulocytopenic disorder" EXACT [] synonym: "granulopenia" EXACT [] xref: MESH:D000380 xref: NCI:C2863 is_a: DOID:615 ! leukopenia [Term] id: DOID:12995 name: conduct disorder def: "A specific developmental disorder marked by a pattern of repetitive behavior wherein the rights of others or social norms are violated. (DO)" [http://en.wikipedia.org/wiki/Conduct_disorder "DO", http://www.nmha.org/go/conduct-disorder "DO"] synonym: "behavior disorder" EXACT [] synonym: "conduct disorders" EXACT [] xref: EFO:0004216 xref: ICD10CM:F91 xref: ICD9CM:312.9 xref: MESH:D019955 xref: NCI:C89329 is_a: DOID:9009161 ! Attention Deficit and Disruptive Behavior Disorders [Term] id: DOID:12996 name: acute dacryocystitis xref: ICD10CM:H04.32 xref: ICD9CM:375.32 xref: MONDO:0001610 is_a: DOID:9938 ! dacryocystitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:12997 name: phlegmonous dacryocystitis xref: ICD10CM:H04.31 xref: ICD9CM:375.33 xref: RDO:9003289 is_a: DOID:9938 ! dacryocystitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13001 name: carotid stenosis alt_id: RDO:0007010 def: "Narrowing or stricture of any part of the CAROTID ARTERIES, most often due to atherosclerotic plaque formation. Ulcerations may form in atherosclerotic plaques and induce THROMBUS formation. Platelet or cholesterol emboli may arise from stenotic carotid lesions and induce a TRANSIENT ISCHEMIC ATTACK; CEREBROVASCULAR ACCIDENT; or temporary blindness (AMAUROSIS FUGAX). (From Adams et al., Principles of Neurology, 6th ed, pp 822-3)" [MESH:D016893] synonym: "Carotid Artery Narrowing" EXACT [] synonym: "Carotid Artery Narrowings" EXACT [] synonym: "Carotid Artery Plaque" EXACT [] synonym: "Carotid Artery Plaques" EXACT [] synonym: "Carotid Artery Stenoses" EXACT [] synonym: "Carotid Artery Stenosis" EXACT [] synonym: "Carotid Artery Ulcerating Plaque" EXACT [] synonym: "Carotid Occlusive Disease" EXACT [] synonym: "Carotid Stenoses" EXACT [] synonym: "Carotid Stenosis, Susceptibility To" RELATED [] synonym: "Carotid Ulcer" EXACT [] synonym: "Carotid Ulcers" EXACT [] synonym: "Common Carotid Artery Stenosis" EXACT [] synonym: "External Carotid Artery Stenosis" NARROW [] synonym: "Internal Carotid Artery Stenosis" NARROW [] xref: EFO:0002615 xref: MESH:D016893 xref: NCI:C95804 is_a: DOID:3407 ! carotid artery disease is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:13002 name: subclavian steal syndrome alt_id: RDO:0006634 def: "A clinically significant reduction in blood supply to the BRAIN STEM and CEREBELLUM (i.e., VERTEBROBASILAR INSUFFICIENCY) resulting from reversal of blood flow through the VERTEBRAL ARTERY from occlusion or stenosis of the proximal subclavian or brachiocephalic artery. Common symptoms include VERTIGO; SYNCOPE; and INTERMITTENT CLAUDICATION of the involved upper extremity. Subclavian steal may also occur in asymptomatic individuals. (From J Cardiovasc Surg 1994;35(1):11-4; Acta Neurol Scand 1994;90(3):174-8)" [MESH:D013349] synonym: "basilar steal syndrome" EXACT [] synonym: "Basilar Steal Syndromes" EXACT [] synonym: "Brachial Basilar Insufficiency Syndrome" EXACT [] synonym: "Brachial-Basilar Insufficiency Syndromes" EXACT [] synonym: "Subclavian Artery Stenoses" EXACT [] synonym: "Subclavian Artery Stenosis" EXACT [] synonym: "Subclavian Carotid Artery Steal Syndrome" EXACT [] synonym: "Subclavian Steal" EXACT [] synonym: "Subclavian Steal Phenomenon" EXACT [] synonym: "subclavian steal steno-occlusive disease" EXACT [] synonym: "subclavian steal syndromes" EXACT [] xref: EFO:1001195 xref: ICD9CM:435.2 xref: MESH:D013349 xref: NCI:C35044 is_a: DOID:13003 ! vertebrobasilar insufficiency is_a: DOID:225 ! syndrome [Term] id: DOID:13003 name: vertebrobasilar insufficiency def: "Localized or diffuse reduction in blood flow through the vertebrobasilar arterial system, which supplies the BRAIN STEM; CEREBELLUM; OCCIPITAL LOBE; medial TEMPORAL LOBE; and THALAMUS. Characteristic clinical features include SYNCOPE; lightheadedness; visual disturbances; and VERTIGO. BRAIN STEM INFARCTIONS or other BRAIN INFARCTION may be associated." [] synonym: "vertebrobasilar arterial insufficiency" EXACT [] synonym: "Vertebrobasilar artery syndrome" EXACT [] synonym: "Vertebrobasilar Dolichoectasia" EXACT [] synonym: "vertebrobasilar dolichoectasias" EXACT [] synonym: "Vertebro-Basilar Insufficiencies" EXACT [] synonym: "Vertebrobasilar Insufficiencies" EXACT [] synonym: "Vertebro Basilar Insufficiency" EXACT [] synonym: "Vertebro Basilar Ischemia" EXACT [] synonym: "Vertebrobasilar Ischemia" EXACT [] synonym: "Vertebro-Basilar Ischemias" EXACT [] synonym: "vertebrobasilar ischemias" EXACT [] xref: EFO:1001449 xref: ICD10CM:G45.0 xref: ICD9CM:435.3 xref: MESH:D014715 is_a: DOID:13095 ! vertebral artery insufficiency is_a: DOID:223 ! basilar artery insufficiency [Term] id: DOID:13005 name: intra-abdominal lymph node mast cell malignancy synonym: "malignant mast cell tumors involving intra-abdominal lymph nodes" EXACT [] synonym: "mast cell malignancy of intra-abdominal lymph nodes" EXACT [] xref: ICD9CM:202.63 is_a: DOID:10619 ! lymph node cancer is_a: DOID:3664 ! mast cell neoplasm [Term] id: DOID:13014 name: shipyard eye synonym: "EKC" EXACT [] synonym: "Epidemic keratoconjunctivitis" EXACT [] xref: ICD10CM:B30.0 xref: ICD9CM:077.1 xref: NCI:C34590 is_a: DOID:9368 ! keratoconjunctivitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13025 name: retinopathy of prematurity def: "A bilateral retinopathy occurring in premature infants treated with excessively high concentrations of oxygen, characterized by vascular dilatation, proliferation, and tortuosity, edema, and retinal detachment, with ultimate conversion of the retina into a fibrous mass that can be seen as a dense retrolental membrane. Usually growth of the eye is arrested and may result in microophthalmia, and blindness may occur. (Dorland, 27th ed)" [MESH:D012178] synonym: "premature retinopathy" EXACT [CSP2005:1114-9578] synonym: "Prematurity Retinopathies" EXACT [] synonym: "Prematurity Retinopathy" EXACT [] synonym: "Retrolental Fibroplasia" EXACT [] synonym: "Retrolental Fibroplasias" EXACT [] xref: EFO:1001158 xref: GARD:5695 xref: ICD10CM:H35.1 xref: ICD9CM:362.21 xref: MESH:D012178 xref: NCI:C34982 xref: RDO:0006483 is_a: DOID:5679 ! retinal disease is_a: DOID:9004676 ! Premature Infant Diseases [Term] id: DOID:13026 name: lobomycosis def: "A dermatomycosis that results in infection located in skin or located in subcutaneous tissue, has_material_basis_in Lacazia loboi and has symptom crusty plaques, has symptom tumors and results in formation of nodular lesions. (DO)" [http://www.cdc.gov/EID/content/15/8/1301.htm "DO", http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Lobomycosis/index.html "DO"] synonym: "Cutaneous blastomycosis" RELATED [] synonym: "cutaneous lobomycosis" EXACT [] synonym: "infection by Loboa loboi" EXACT [] synonym: "Jorge Lobo's Disease" EXACT [] synonym: "Jorge Lobo Disease" EXACT [] synonym: "Jorge Lobos Disease" EXACT [] synonym: "Keloidal Blastomycoses" EXACT [] synonym: "Keloidal Blastomycosis" EXACT [] synonym: "Lacazioses" EXACT [] synonym: "Lacaziosis" EXACT [] synonym: "Lobomycoses" EXACT [] xref: EFO:1001805 xref: ICD10CM:B48.0 xref: ICD9CM:116.2 xref: MESH:D060368 is_a: DOID:0050135 ! subcutaneous mycosis is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:13027 name: transient global amnesia def: "An amnestic disorder that is characterized by temporary but almost total disruption of short-term memory with a range of problems accessing older memories. (DO)" [http://en.wikipedia.org/wiki/Transient_global_amnesia "DO"] synonym: "TGA (transient global amnesia)" EXACT [] xref: GARD:8172 xref: ICD10CM:G45.4 xref: ICD9CM:437.7 xref: MESH:D020236 xref: NCI:C85198 is_a: DOID:10914 ! amnestic disorder is_a: DOID:225 ! syndrome is_a: DOID:936 ! brain disease [Term] id: DOID:13031 name: balanoposthitis xref: ICD10CM:N47.6 xref: ICD9CM:607.1 xref: RDO:9003945 is_a: DOID:1529 ! penile disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13033 name: balanitis def: "Inflammation of the head of the PENIS, glans penis." [MESH:D001446] synonym: "Balanitides" EXACT [] xref: EFO:1000833 xref: ICD10CM:N48.1 xref: MESH:D001446 xref: NCI:C26705 xref: RDO:0004971 is_a: DOID:1529 ! penile disease [Term] id: DOID:13034 name: relapsing fever def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Borrelia, which is transmitted_by tick or transmitted_by body louse. (DO)" [http://www.cdc.gov/ncidod/dvbid/RelapsingFever/index.html "DO"] synonym: "Relapsing Fevers" EXACT [] xref: ICD10CM:A68 xref: ICD9CM:087 xref: MESH:D012061 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004477 ! Borrelia Infections [Term] id: DOID:13035 name: louse-borne relapsing fever def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia recurrentis, which is transmitted_by body louse (Pediculus humanus). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30869050 "DO"] xref: ICD10CM:A68.0 xref: ICD9CM:087.0 xref: NCI:C128426 is_a: DOID:13034 ! relapsing fever [Term] id: DOID:13036 name: tick-borne relapsing fever def: "A relapsing fever that is characterized by relapsing or recurring episodes of fever, has_material_basis_in Borrelia hermsii, has_material_basis_in Borrelia parkeri or has_material_basis_in Borrelia duttoni, which are transmitted_by soft ticks (Ornithodoros parkeri and Ornithodoros hermsii). The infection has_symptom tachypnea, has_symptom tachycardia, has_symptom hepatosplenomegaly and has_symptom lymphadenopathy. (DO)" [http://en.wikipedia.org/wiki/Relapsing_fever "DO"] synonym: "soft tick relapsing fever" EXACT [] xref: ICD10CM:A68.1 xref: ICD9CM:087.1 xref: NCI:C34976 is_a: DOID:13034 ! relapsing fever [Term] id: DOID:13037 name: mechanical lagophthalmos xref: ICD10CM:H02.22 xref: ICD9CM:374.22 is_a: DOID:12959 ! lagophthalmos created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13038 name: cicatricial lagophthalmos xref: ICD10CM:H02.21 xref: ICD9CM:374.23 is_a: DOID:12959 ! lagophthalmos created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13042 name: persistent fetal circulation syndrome alt_id: MIM:265380 def: "A syndrome of persistent PULMONARY HYPERTENSION in the newborn infant (INFANT, NEWBORN) without demonstrable HEART DISEASES. This neonatal condition can be caused by severe pulmonary vasoconstriction (reactive type), hypertrophy of pulmonary arterial muscle (hypertrophic type), or abnormally developed pulmonary arterioles (hypoplastic type). The newborn patient exhibits CYANOSIS and ACIDOSIS due to the persistence of fetal circulatory pattern of right-to-left shunting of blood through a patent ductus arteriosus (DUCTUS ARTERIOSUS, PATENT) and at times a patent foramen ovale (FORAMEN OVALE, PATENT)." [MESH:D010547] synonym: "ACD MPV" EXACT [] synonym: "ACDMPV" EXACT [] synonym: "alveolar capillary dysplasia" EXACT [] synonym: "alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [] synonym: "Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins And Other Congenital Anomalies" EXACT [] synonym: "Congenital alveolar capillary dysplasia" EXACT [] synonym: "congenital alveolar capillary dysplasia with misalignment of pulmonary veins" EXACT [] synonym: "Familial Persistent Pulmonary Hypertension of the Newborn" EXACT [] synonym: "fetal circulation" EXACT [] synonym: "Misalignment of the Pulmonary Vessels" EXACT [] synonym: "Persistent Fetal Circulation" EXACT [] synonym: "persistent foetal circulation" EXACT [] synonym: "persistent foetal circulation syndrome" EXACT [] synonym: "persistent pulmonary hypertension of newborn" EXACT [] synonym: "persistent pulmonary hypertension of the newborn" EXACT [] xref: EFO:1001103 xref: ICD10CM:P29.3 xref: ICD10CM:P29.30 xref: ICD9CM:747.83 xref: MESH:C536590 xref: MESH:D010547 xref: NCI:C85006 xref: NCI:C98809 is_a: DOID:225 ! syndrome is_a: DOID:6432 ! pulmonary hypertension is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:13046 name: acute sphenoidal sinusitis def: "A sphenoid sinusitis which lasts for less than 4 weeks. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO"] synonym: "Sphenoidal sinus -acute" EXACT [SNOMEDCT_2005_07_31:266378004] xref: ICD10CM:J01.3 xref: ICD10CM:J01.30 xref: ICD9CM:461.3 xref: RDO:9003993 is_a: DOID:10794 ! sphenoid sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13050 name: corpus luteum cyst def: "An ovarian cyst that arises from the accumulation of fluid in the follicle after an oocyte has been release. (DO)" [https://www.mayoclinic.org/diseases-conditions/ovarian-cysts/multimedia/corpus-luteum-cyst/img-20007971 "DO"] synonym: "corpus luteum cysts" EXACT [] xref: ICD9CM:620.1 is_a: DOID:5119 ! ovarian cyst created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13060 name: traumatic glaucoma def: "A glaucoma characterized by elevated intraocular pressure secondary to ocular trauma, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Traumatic glaucoma is caused by ocular trauma that affects aqueous outflow, such as trauma that leads to inflammation or deposition of proteins in the trabecular network, that changes the anterior chamber angle, or that causes chronic inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4741166/ "DO"] synonym: "glaucoma associated with ocular trauma" EXACT [] xref: ICD9CM:365.65 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13068 name: renal osteodystrophy def: "Decalcification of bone or abnormal bone development due to chronic KIDNEY DISEASES, in which 1,25-DIHYDROXYVITAMIN D3 synthesis by the kidneys is impaired, leading to reduced negative feedback on PARATHYROID HORMONE. The resulting SECONDARY HYPERPARATHYROIDISM eventually leads to bone disorders." [MESH:D012080] synonym: "Chronic kidney disease-mineral and bone disorder" EXACT [] synonym: "CKD-MBD" EXACT [] synonym: "renal osteodystrophies" EXACT [] synonym: "renal rickets" EXACT [] xref: EFO:1001152 xref: ICD10CM:N25.0 xref: ICD9CM:588.0 xref: MESH:D012080 xref: NCI:C114827 is_a: DOID:10609 ! rickets is_a: DOID:12466 ! secondary hyperparathyroidism is_a: DOID:557 ! kidney disease [Term] id: DOID:1307 name: dementia def: "A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm "DO"] synonym: "Amentia" EXACT [] synonym: "amentias" EXACT [] synonym: "dementias" EXACT [] synonym: "Familial Dementia" EXACT [] synonym: "Familial Dementias" EXACT [] synonym: "senile paranoid dementia" EXACT [] synonym: "senile paranoid dementias" EXACT [] xref: EFO:0003862 xref: ICD9CM:290.8 xref: MESH:D003704 xref: MONDO:0001627 is_a: DOID:1561 ! cognitive disorder is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:13072 name: acquired hyperkeratosis def: "Focal or diffuse thickening of the skin not inherited as a primary genetic disorder. Causes include inflammatory skin disorders, infectious disorders, lymphedema, and medications." [] synonym: "acquired keratoderma" EXACT [] synonym: "acquired keratosis" EXACT [] xref: EFO:1000663 xref: ICD9CM:701.1 xref: NCI:C34746 is_a: DOID:161 ! keratosis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13074 name: tinea unguium def: "A dermatophytosis that results_in fungal infection located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which cause separation of the nail plate from the nail bed and has_symptom thickening of subungueal area. Sometimes, white islands are seen on the external nail plates. These gradually coalesce until the entire nail plate is involved. (DO)" [http://en.wikipedia.org/wiki/Nail_disease "DO", http://en.wikipedia.org/wiki/Onychomycosis "DO"] synonym: "cellulitis and abscess" RELATED [] synonym: "cellulitis and abscess of buttock" EXACT [] synonym: "cellulitis and abscess of face" EXACT [] synonym: "cellulitis and abscess of finger" EXACT [] synonym: "cellulitis and abscess of finger and toe" EXACT [] synonym: "cellulitis and abscess of gluteal region" EXACT [] synonym: "cellulitis and abscess of trunk" EXACT [] synonym: "cellulitis and abscess of upper arm and forearm" EXACT [] synonym: "dermatophytic onychia" EXACT [] synonym: "dermatophytic onychomycosis" EXACT [] synonym: "dermatophytosis of nail" EXACT [] synonym: "nail fungus" EXACT [] synonym: "Onychomycoses" EXACT [] synonym: "onychomycosis" EXACT [] synonym: "onychomycosis due to dermatophyte" EXACT [] xref: ICD9CM:681.9 xref: MESH:D014009 is_a: DOID:4123 ! nail disease is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:13078 name: eumycotic mycetoma def: "A dermatomycosis that effects skin and subcutaneous tissue located in foot, located in trunk, located in buttocks, located in eyelids, located in lacrimal glands, located in paranasal sinuses, located in mandible, located in scalp, located in neck, located in perineum, or located in testes and has symptom sinus discharge and results in formation of nodules. (DO)" [http://en.wikipedia.org/wiki/Maduromycosis "DO", http://www.mycology.adelaide.edu.au/Mycoses/Subcutaneous/Mycetoma/index.html "DO"] synonym: "actinomycetoma" EXACT [] synonym: "actinomycetomas" EXACT [] synonym: "Eumycetoma" EXACT [] synonym: "Eumycetomas" EXACT [] synonym: "Madura Foot" EXACT [] synonym: "Maduromycoses" EXACT [] synonym: "Maduromycosis" EXACT [] synonym: "mycetoma" EXACT [] synonym: "mycetomas" EXACT [] synonym: "mycotic maduromycosis" EXACT [] synonym: "mycotic mycetoma" EXACT [] xref: EFO:0007265 xref: ICD10CM:B47 xref: MESH:D008271 xref: NCI:C85505 is_a: DOID:0050135 ! subcutaneous mycosis is_a: DOID:1563 ! dermatomycosis is_a: DOID:2312 ! nocardiosis is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:13080 name: Jaccoud's syndrome def: "An autoimmune disease that is characterized by severe non-erosive arthropathy with ulnar deviation of the 2nd to 5th digits and metacarpophalangeal joint subluxation without evidence of synovitis, and may be associated with systemic lupus erythematosus, rheumatic fever, and ligamentous laxity. (DO)" [https://ard.bmj.com/content/57/9/540 "DO", https://radiopaedia.org/articles/jaccoud-arthropathy "DO"] synonym: "Jaccoud syndrome" EXACT [] xref: ICD10CM:M12.0 xref: ICD9CM:714.4 is_a: DOID:225 ! syndrome is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13081 name: hemangioma of subcutaneous tissue synonym: "angioma of the subcutaneous tissue" EXACT [] synonym: "EFO:1000707" EXACT [] synonym: "subcutaneous haemangioma" EXACT [] synonym: "subcutaneous hemangioma" EXACT [] xref: EFO:1000707 xref: NCI:C8540 xref: RDO:9004222 is_a: DOID:471 ! skin hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:13087 name: Lown-Ganong-Levine syndrome alt_id: MIM:108950 def: "A syndrome that involves pre-excitation of the ventricles due to an accessory pathway providing an abnormal electrical communication from the atria to the ventricles. (DO)" [http://en.wikipedia.org/wiki/Lown-Ganong-Levine_syndrome "DO"] synonym: "short PR, normal QRS complex syndrome" EXACT [] synonym: "syndrome of short P-R interval, normal QRS complexes, and supraventricular tachycardias" EXACT [] xref: ICD10CM:I45.6 xref: ICD9CM:426.81 xref: MESH:D008151 xref: ORDO:844 is_a: DOID:9002491 ! Pre-Excitation Syndromes is_a: DOID:9006770 ! Atrial Tachyarrhythmia with Short PR Interval [Term] id: DOID:13088 name: periventricular leukomalacia def: "Degeneration of white matter adjacent to the CEREBRAL VENTRICLES following cerebral hypoxia or BRAIN ISCHEMIA in neonates. The condition primarily affects white matter in the perfusion zone between superficial and deep branches of the MIDDLE CEREBRAL ARTERY. Clinical manifestations include VISION DISORDERS; CEREBRAL PALSY; PARAPLEGIA; SEIZURES; and cognitive disorders. (From Adams et al., Principles of Neurology, 6th ed, p1021; Joynt, Clinical Neurology, 1997, Ch4, pp30-1)" [MESH:D007969] synonym: "Cystic Periventricular Leukomalacia" EXACT [] synonym: "cystic periventricular leukomalacias" EXACT [] synonym: "Neonatal Cerebral Leukomalacia" EXACT [] synonym: "Neonatal Cerebral Leukomalacias" EXACT [] synonym: "Periventricular Encephalomalacia" EXACT [] synonym: "Periventricular Encephalomalacias" EXACT [] synonym: "Periventricular Leucomalacia" EXACT [] synonym: "Periventricular Leucomalacias" EXACT [] synonym: "periventricular leukomalacias" EXACT [] xref: EFO:1001101 xref: GARD:10285 xref: ICD10CM:P91.2 xref: ICD9CM:779.7 xref: MESH:D007969 xref: NCI:C99013 is_a: DOID:2034 ! encephalomalacia is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9004676 ! Premature Infant Diseases [Term] id: DOID:13089 name: intracranial arterial disease def: "Pathological conditions involving ARTERIES in the skull, such as arteries supplying the CEREBRUM, the CEREBELLUM, the BRAIN STEM, and associated structures. They include atherosclerotic, congenital, traumatic, infectious, inflammatory, and other pathological processes." [MESH:D020765] synonym: "Arterial Brain Disease" EXACT [] synonym: "Arterial Brain Diseases" EXACT [] synonym: "Arterial Brain Disorder" EXACT [] synonym: "Arterial Brain Disorders" EXACT [] synonym: "intracranial arterial diseases" EXACT [] synonym: "Intracranial Arterial Disorder" EXACT [] synonym: "Intracranial Arterial Disorders" EXACT [] xref: EFO:1000990 xref: MESH:D020765 xref: RDO:0005158 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:13094 name: branch retinal artery occlusion synonym: "retinal arterial branch occlusion" EXACT [] xref: ICD10CM:H34.23 xref: ICD9CM:362.32 xref: NCI:C34436 is_a: DOID:8483 ! retinal artery occlusion created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13095 name: vertebral artery insufficiency synonym: "vertebral artery insufficiencies" EXACT [] synonym: "vertebral artery ischemia" EXACT [] synonym: "vertebral artery ischemias" EXACT [] synonym: "vertebral artery stenoses" EXACT [] synonym: "vertebral artery stenosis" EXACT [] synonym: "vertebral artery syndrome" EXACT [] is_a: DOID:0050828 ! artery disease is_a: DOID:224 ! transient cerebral ischemia is_a: DOID:225 ! syndrome [Term] id: DOID:13096 name: Sneddon syndrome alt_id: MIM:182410 def: "An artery disease that is characterized by onset of livedo reticularis in the second decade and onset of cerebrovascular disease in early adulthood and that has_material_basis_in compound heterozygous mutation in the CECR1 gene (ADA2) on chromosome 22q11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25075847/ "DO"] synonym: "DEFICIENCY OF ADENOSINE DEAMINASE 2" BROAD [] synonym: "Ehrmann-Sneddon syndrome" EXACT [] synonym: "idiopathic livedo reticularis with systemic involvement" EXACT [] synonym: "livedo racemosa-cerebrovascular accident syndrome" EXACT [] synonym: "livedo reticularis and cerebrovascular accidents" EXACT [] synonym: "livedo reticularis, systemic involvement" EXACT [] synonym: "SNDNS" EXACT [] synonym: "Sneddon Champion syndrome" EXACT [] xref: EFO:1001186 xref: GARD:7664 xref: MESH:D018860 xref: MONDO:0008436 xref: ORDO:820 is_a: DOID:0050828 ! artery disease is_a: DOID:225 ! syndrome is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:13097 name: intracranial arteriosclerosis alt_id: RDO:0005160 def: "Vascular diseases characterized by thickening and hardening of the walls of ARTERIES inside the SKULL. There are three subtypes: (1) atherosclerosis with fatty deposits in the ARTERIAL INTIMA; (2) Monckeberg's sclerosis with calcium deposits in the media and (3) arteriolosclerosis involving the small caliber arteries. Clinical signs include HEADACHE; CONFUSION; transient blindness (AMAUROSIS FUGAX); speech impairment; and HEMIPARESIS." [MESH:D002537] synonym: "Cerebral Arterioscleroses" EXACT [] synonym: "Cerebral Arteriosclerosis" EXACT [] synonym: "Intracranial Arterioscleroses" EXACT [] synonym: "intracranial atheroscleroses" EXACT [] synonym: "intracranial atherosclerosis" EXACT [] xref: MESH:D002537 is_a: DOID:13089 ! intracranial arterial disease is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:13098 name: central retinal artery occlusion def: "A retinal artery occlusion characterized by blockage of blood flow through the central retinal artery. (DO)" [http://en.wikipedia.org/wiki/Central_retinal_artery_occlusion "DO"] xref: ICD10CM:H34.1 xref: ICD9CM:362.31 xref: NCI:C34456 xref: RDO:9002782 is_a: DOID:8483 ! retinal artery occlusion created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13099 name: Moyamoya disease def: "A cerebral arterial disease characterized by constriction of certain arteries at the base of the brain. Blood flow is blocked by the constriction and also by blood clots. (DO)" [http://en.wikipedia.org/wiki/Moyamoya_disease "DO", http://rarediseases.info.nih.gov/gard/7064/moyamoya-disease/resources/1 "DO"] synonym: "cerebrovascular Moyamoya disease" EXACT [] synonym: "classic Moyamoya disease" EXACT [] synonym: "Moya Moya disease" EXACT [] synonym: "Moyamoya syndrome" EXACT [] synonym: "MYMY" EXACT [] synonym: "primary Moyamoya disease" EXACT [] synonym: "primary Moyamoya diseases" EXACT [] synonym: "progressive intracranial arterial occlusion" EXACT [] synonym: "progressive intracranial occlusive arteropathy (Moyamoya)" EXACT [] synonym: "secondary Moyamoya disease" EXACT [] xref: EFO:0004250 xref: GARD:7064 xref: ICD10CM:I67.5 xref: ICD9CM:437.5 xref: MESH:D009072 xref: MIM:PS252350 xref: MONDO:0016820 xref: NCI:C84895 xref: ORDO:2573 xref: ORDO:280679 xref: ORDO:401945 is_a: DOID:3407 ! carotid artery disease is_a: DOID:3527 ! cerebral arterial disease is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:13100 name: intracranial vasospasm def: "Constriction of arteries in the SKULL due to sudden, sharp, and often persistent smooth muscle contraction in blood vessels. Intracranial vasospasm results in reduced vessel lumen caliber, restricted blood flow to the brain, and BRAIN ISCHEMIA that may lead to hypoxic-ischemic brain injury (HYPOXIA-ISCHEMIA, BRAIN)." [MESH:D020301] synonym: "Cerebral Angiospasm" EXACT [] synonym: "cerebral angiospasms" EXACT [] synonym: "Cerebral Artery Spasm" EXACT [] synonym: "Cerebral Artery Spasms" EXACT [] synonym: "Cerebral Vasospasm" EXACT [] synonym: "Cerebral Vasospasms" EXACT [] synonym: "Cerebrovascular Spasm" EXACT [] synonym: "Cerebrovascular Spasms" EXACT [] synonym: "Intracranial Angiospasm" EXACT [] synonym: "Intracranial Angiospasms" EXACT [] synonym: "Intracranial Vascular Spasm" EXACT [] synonym: "Intracranial Vascular Spasms" EXACT [] synonym: "intracranial vasospasms" EXACT [] xref: EFO:1000994 xref: MESH:D020301 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:13109 name: bladder leiomyoma def: "A bladder benign neoplasm that derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532898/ "DO"] synonym: "leiomyoma of the urinary bladder" EXACT [] xref: NCI:C6178 xref: RDO:9003328 is_a: DOID:0050623 ! bladder benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13110 name: bladder squamous papilloma xref: NCI:C39834 xref: RDO:9005052 is_a: DOID:0050623 ! bladder benign neoplasm created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:13112 name: mechanical entropion xref: ICD9CM:374.02 is_a: DOID:12397 ! entropion [Term] id: DOID:13113 name: cicatricial entropion xref: ICD9CM:374.04 is_a: DOID:12397 ! entropion [Term] id: DOID:13117 name: paronychia def: "A nail disease characterized by often-tender bacterial or fungal hand infection or foot infection due to either bacteria or fungus (Candida albicans) where the nail and skin meet at the side or the base of a finger or toe nail. The infection can start suddenly (acute paronychia) or gradually (chronic paronychia). Puss is usually present, along with gradual thickening and browning discoloration of the nail plate. (DO)" [http://en.wikipedia.org/wiki/Paronychia "DO"] synonym: "fungal nail infection" EXACT [] synonym: "infected nailfold" EXACT [] synonym: "Onychia and paronychia of finger" EXACT [] synonym: "Onychia and paronychia of toe" EXACT [] synonym: "paronychia inflammation" RELATED [] synonym: "Paronychias" EXACT [] xref: EFO:0007421 xref: ICD10CM:L03.0 xref: MESH:D010304 xref: NCI:C79702 is_a: DOID:4123 ! nail disease is_a: DOID:9000859 ! Infectious Skin Diseases [Term] id: DOID:1312 name: focal segmental glomerulosclerosis def: "A clinicopathological syndrome or diagnostic term for a type of glomerular injury that has multiple causes, primary or secondary. Clinical features include PROTEINURIA, reduced GLOMERULAR FILTRATION RATE, and EDEMA. Kidney biopsy initially indicates focal segmental glomerular consolidation (hyalinosis) or scarring which can progress to globally sclerotic glomeruli leading to eventual KIDNEY FAILURE." [MESH:D005923] synonym: "FGS" EXACT [] synonym: "focal glomerular sclerosis" EXACT [] synonym: "Focal Glomerulosclerosis" EXACT [] synonym: "Focal Sclerosing Glomerulonephritides" EXACT [] synonym: "Focal Sclerosing Glomerulonephritis" EXACT [] synonym: "FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY" NARROW [] synonym: "FSGS" EXACT [] synonym: "Segmental Glomerular Hyalinosis" EXACT [] synonym: "Segmental Hyalinosis" EXACT [] xref: EFO:0004236 xref: GARD:6517 xref: MESH:D005923 xref: MIM:PS603278 xref: NCI:C37308 is_a: DOID:0050851 ! glomerulosclerosis [Term] id: DOID:13120 name: protein-deficiency anemia alt_id: DOID:13121 def: "A nutritional deficiency disease that is characterized by inadequate protein intake. (DO)" [https://link.springer.com/chapter/10.1007/978-1-4615-7308-1_21 "DO"] synonym: "anemia due to protein deficiency" EXACT [] synonym: "deficiency anemia" EXACT [] synonym: "deficiency anemias" EXACT [] synonym: "protein-deficiency anaemia" EXACT [] xref: ICD10CM:D53.0 xref: ICD9CM:281.4 xref: MONDO:0001638 is_a: DOID:2355 ! anemia is_a: DOID:9004989 ! Protein Deficiency created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13127 name: gonococcal spondylitis xref: ICD9CM:098.53 is_a: DOID:6590 ! spondylitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13129 name: severe pre-eclampsia def: "A pre-eclampsia that has_symptom at least one of the following: SBP of 160mm HG or higher or DPB of 110mm HG or higher on 2 occasions at least 6 hours apart, proteinuria more than 5g in a 24-hour collection, pulmonary edema or cyanosis, oliguria, persistent headaches, epigastric pain and/or impaired liver function, thrombocytopenia, oligohydramnios, decreased fetal growth or placental abruption. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25373431 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28793357 "DO"] synonym: "antepartum severe pre-eclampsia" EXACT [] synonym: "postpartum severe pre-eclampsia" EXACT [] synonym: "severe preeclampsia" EXACT [] synonym: "severe pre-eclampsia, with delivery" EXACT [] xref: ICD9CM:642.50 is_a: DOID:10591 ! pre-eclampsia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13133 name: HELLP syndrome def: "A severe pre-eclampsia characterized by hemolysis, elevated liver enzyme and low platelet count. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24400024 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25879992 "DO"] synonym: "hemolysis, elevated liver enzymes, lowered platelets" EXACT [] xref: EFO:0007297 xref: GARD:8528 xref: ICD10CM:O14.2 xref: MESH:D017359 xref: NCI:C84750 is_a: DOID:13129 ! severe pre-eclampsia is_a: DOID:225 ! syndrome [Term] id: DOID:13134 name: hordeolum externum def: "A blepharitis that is characterized by an infection of the sebaceous glands of Zeis at the base of the eyelashes, or an infection of the apocrine sweat glands of Moll. (DO)" [http://en.wikipedia.org/wiki/Stye "DO"] synonym: "external stye" EXACT [] xref: ICD10CM:H00.01 xref: ICD9CM:373.11 is_a: DOID:9423 ! blepharitis is_a: DOID:9909 ! hordeolum created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13135 name: exophthalmic ophthalmoplegia xref: ICD9CM:376.22 xref: RDO:9003017 is_a: DOID:12359 ! endocrine exophthalmos is_a: DOID:539 ! ophthalmoplegia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13137 name: Werdnig-Hoffmann disease def: "A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted and that has_material_basis_in a mutation or deletion in the telomeric copy of the SMN gene, known as SMN1, on chromosome 5q13. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/?term=10700541 "DO"] synonym: "acute spinal muscular atrophy" EXACT [] synonym: "hereditary motor neuropathy proximal type I" EXACT [] synonym: "HMN (hereditary motor neuropathy) proximal type I" EXACT [] synonym: "infantile muscular atrophy" EXACT [] synonym: "infantile spinal muscular atrophy" EXACT [] synonym: "progressive muscular atrophy of infancy" EXACT [] synonym: "SMA1" EXACT [] synonym: "SMA I" EXACT [] synonym: "SMA, infantile acute form" EXACT [] synonym: "spinal muscular atrophy type 1" EXACT [] synonym: "spinal muscular atrophy type I" EXACT [] synonym: "Werdnig-Hoffman disease" EXACT [] xref: GARD:7883 xref: ICD10CM:G12.0 xref: ICD9CM:335.0 xref: MIM:253300 xref: MONDO:0009669 xref: NCI:C98670 is_a: DOID:0060160 ! childhood spinal muscular atrophy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:13138 name: acute proliferative glomerulonephritis synonym: "acute glomerulonephritis with lesion of proliferative glomerulonephritis" EXACT [] xref: ICD9CM:580.0 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13139 name: crescentic glomerulonephritis def: "A syndrome of the kidney that is characterized by a rapid loss of renal function involving severe injury to the kidneys' glomeruli, with many of the glomeruli containing characteristic glomerular crescents (crescent-shaped scars)." [] synonym: "NCGN" RELATED [] synonym: "necrotizing crescentic glomerulonephritis" RELATED [] synonym: "RPGN" EXACT [] xref: NCI:C128143 xref: NCI:C35444 is_a: DOID:13138 ! acute proliferative glomerulonephritis is_a: DOID:225 ! syndrome is_a: DOID:4776 ! rapidly progressive glomerulonephritis [Term] id: DOID:13140 name: suppurative uveitis def: "A uveitis characterized by inflammation and pus formation of the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid, and has_symptom pain, blurry vision, and eye redness. Suppurative uveitis is typically caused by infection, especially by bacterial infection post-operatively or post-traumatically. (DO)" [https://www.djo.org.in/articles/26/4/uveitis-classification1.html "DO", https://www.slideshare.net/Jihajie/uveitis-56740528 "DO"] synonym: "suppurative uveitides" EXACT [] xref: EFO:1001203 xref: MESH:D015829 is_a: DOID:13141 ! uveitis is_a: DOID:4692 ! endophthalmitis is_a: DOID:9001949 ! Fungal Eye Infections is_a: DOID:9005473 ! Bacterial Eye Infections is_a: DOID:9005889 ! Suppuration [Term] id: DOID:13141 name: uveitis def: "An uveal disease is characterized by inflammation of any of the layers of the uvea of the eye, which includes the iris, ciliary body, and choroid. (DO)" [https://www.mayoclinic.org/diseases-conditions/uveitis/symptoms-causes/syc-20378734 "DO"] synonym: "uveitides" EXACT [] xref: EFO:1001231 xref: ICD10CM:H20.9 xref: MESH:D014605 xref: NCI:C26909 is_a: DOID:3480 ! uveal disease [Term] id: DOID:13143 name: benign secondary hypertension xref: ICD9CM:405.1 xref: NCI:C3658 xref: RDO:9001820 is_a: DOID:11130 ! secondary hypertension created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:13145 name: benign renovascular hypertension def: "A benign secondary hypertension that is characterized by chronic elevated blood pressure in the arteries supplying blood to the kidneys and has_material_basis_in renal artery stenosis. (DO)" [https://medlineplus.gov/ency/article/000204.htm "DO"] xref: ICD9CM:405.11 xref: RDO:9003036 is_a: DOID:1073 ! renal hypertension is_a: DOID:13143 ! benign secondary hypertension created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13146 name: esophageal candidiasis def: "A candidiasis that involves fungal infection of the esophagus by Candida albicans in immunocompromised people, resulting in lesions, bleeding, painful swallowing and substernal pain. (DO)" [http://en.wikipedia.org/wiki/Esophageal_candidiasis "DO"] synonym: "candida esophagitis" EXACT [] synonym: "candidal esophagitis" EXACT [] synonym: "candidiasis of the esophagus" EXACT [] synonym: "esophageal moniliasis" EXACT [] synonym: "esophageal thrush" EXACT [] xref: ICD10CM:B37.81 xref: ICD9CM:112.84 xref: NCI:C27027 is_a: DOID:1508 ! candidiasis is_a: DOID:6050 ! esophageal disease created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:13147 name: fungal esophagitis xref: MONDO:0001649 xref: NCI:C27107 is_a: DOID:11963 ! esophagitis is_a: DOID:1564 ! fungal infectious disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13148 name: acute cystitis def: "A cystitis characterized by a sudden onset or severe symptoms. (DO)" [http://en.wikipedia.org/wiki/Urinary_tract_infection "DO"] xref: ICD10CM:N30.0 xref: ICD9CM:595.0 xref: NCI:C26934 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:13159 name: scrotum squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the scrotum. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26113906 "DO"] synonym: "scrotal squamous cell carcinoma" EXACT [] synonym: "squamous cell carcinoma of scrotum" EXACT [] xref: NCI:C4643 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3445 ! scrotal carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:13160 name: scrotum melanoma synonym: "melanoma of scrotum" EXACT [] xref: NCI:C7361 xref: RDO:9001847 is_a: DOID:1909 ! melanoma is_a: DOID:518 ! scrotum neoplasm created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:13166 name: allergic bronchopulmonary aspergillosis alt_id: MIM:103920 def: "An aspergillosis that involves an allergic reaction due to the spores of Aspergillus moulds (A. fumigatus), which colonizes the mucus in the airways causing inflammation. The disease has symptom cough, has symptom wheezing and has symptom fever. (DO)" [http://www.merck.com/mmhe/sec04/ch051/ch051d.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000070.htm "DO"] synonym: "allergic bronchopulmonary aspergilloses" EXACT [] synonym: "pulmonary aspergillus disease" EXACT [] xref: EFO:0007140 xref: GARD:602 xref: ICD10CM:B44.81 xref: ICD9CM:518.6 xref: MESH:D001229 xref: NCI:C84547 is_a: DOID:0050073 ! invasive aspergillosis is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:13168 name: prepuce cancer synonym: "malignant neoplasm of foreskin" EXACT [] synonym: "malignant tumor of foreskin" EXACT [] xref: ICD10CM:C60.0 xref: ICD9CM:187.1 is_a: DOID:11615 ! penile cancer is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13169 name: spermatic cord cancer def: "malignant tumor of spermatic cord" [] synonym: "malignant tumor of spermatic cord" EXACT [SNOMEDCT_2005_07_31:363453008] synonym: "malignant tumor of the Spermatic Cord" EXACT [NCI2004_11_17:C3559] synonym: "Spermatic cord Ca" EXACT [] xref: ICD10CM:C63.1 xref: ICD9CM:187.6 xref: NCI:C3559 is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:13174 name: dissociated nystagmus xref: ICD10CM:H55.04 xref: ICD9CM:379.55 is_a: DOID:9650 ! pathologic nystagmus created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:13185 name: esophageal diverticulosis def: "A pathological condition characterized by the presence of a number of ESOPHAGEAL DIVERTICULA in the ESOPHAGUS." [MESH:D045723] xref: EFO:1000930 xref: MESH:D045723 xref: RDO:0007516 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:13186 name: megaesophagus xref: MONDO:0001656 xref: NCI:C34811 is_a: DOID:6050 ! esophageal disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13189 name: gout alt_id: MIM:138900 alt_id: MIM:612671 def: "An arthritis that has_material_basis_in uric acid crystal deposits located_in joint. (DO)" [http://en.wikipedia.org/wiki/Gout "DO", http://www.mayoclinic.com/health/gout/DS00090 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000422.htm "DO"] synonym: "articular gout" EXACT [] synonym: "GOUT1" RELATED [] synonym: "GOUT4" RELATED [] synonym: "Gouts" EXACT [] synonym: "GOUT SUSCEPTIBILITY 1" RELATED [] synonym: "GOUT SUSCEPTIBILITY 4" RELATED [] synonym: "gouty arthropathy" RELATED [] synonym: "renal overload-type gout" NARROW [] synonym: "Urate-Binding Globulin, Decrease in" RELATED [] xref: DOID:9006213 xref: EFO:0004274 xref: EFO:0021525 xref: ICD10CM:M10 xref: ICD9CM:274 xref: ICD9CM:274.0 xref: MESH:C566013 xref: MESH:D006073 xref: MIM:191530 xref: NCI:C34650 is_a: DOID:653 ! purine-pyrimidine metabolic disorder is_a: DOID:848 ! arthritis is_a: DOID:9005593 ! Crystal Arthropathies [Term] id: DOID:1319 name: brain cancer def: "A central nervous system cancer that is characterized by the growth of abnormal cells in the tissues of the brain. (DO)" [http://www.cancer.gov/dictionary?CdrID=387264 "DO"] synonym: "adult brain tumor" EXACT [] synonym: "adult malignant brain neoplasm" EXACT [] synonym: "brain cancers" EXACT [] synonym: "brain neoplasm, adult" EXACT [] synonym: "BT - brain tumour" EXACT [] synonym: "cancer of brain" EXACT [] synonym: "malignant brain tumour" EXACT [] synonym: "malignant primary brain neoplasm" EXACT [] synonym: "malignant primary brain tumor" EXACT [] synonym: "malignant tumor of adult brain" EXACT [] synonym: "malignant tumor of brain" EXACT [] synonym: "primary malignant neoplasm of brain" EXACT [] synonym: "tumor of the brain" EXACT [] xref: EFO:0003833 xref: ICD10CM:C71 xref: ICD9CM:191 xref: ICD9CM:239.6 xref: NCI:C170814 xref: NCI:C2907 xref: NCI:C3568 xref: NCI:C5115 xref: NCI:C7710 is_a: DOID:3620 ! central nervous system cancer is_a: DOID:9007502 ! Brain Neoplasms created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13195 name: nontoxic goiter synonym: "Nodule-thyroid, non tox" EXACT [] synonym: "non-toxic goiter" EXACT [] synonym: "non-toxic goitre" EXACT [] synonym: "non-toxic simple goitre" EXACT [] xref: ICD10CM:E04.9 xref: NCI:C35271 is_a: DOID:12176 ! goiter created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13196 name: lingual goiter def: "Pathological enlargement of the LINGUAL THYROID, ectopic thyroid tissue at the base of the TONGUE. It may cause upper AIRWAY OBSTRUCTION; DYSPHAGIA; or HYPOTHYROIDISM symptoms." [MESH:D047268] synonym: "lingual goiters" EXACT [] xref: EFO:1001018 xref: MESH:D047268 is_a: DOID:12176 ! goiter is_a: DOID:9000704 ! Lingual Thyroids [Term] id: DOID:13197 name: nodular goiter alt_id: RDO:0001381 def: "An enlarged THYROID GLAND containing multiple nodules (THYROID NODULE), usually resulting from recurrent thyroid HYPERPLASIA and involution over many years to produce the irregular enlargement. Multinodular goiters may be nontoxic or may induce THYROTOXICOSIS." [MESH:D006044] synonym: "Nodular Goiters" EXACT [] synonym: "nodular goitre" EXACT [] xref: EFO:1001062 xref: MESH:D006044 xref: NCI:C131437 is_a: DOID:12176 ! goiter [Term] id: DOID:13198 name: endemic goiter def: "A nutritional deficiency disease characterized by noncancerous enlargement of the thyroid gland and has_material_basis_in iodine deficiency. (DO)" [https://medicalguidelines.msf.org/viewport/CG/english/endemic-goitre-and-iodine-deficiency-18482487.html "DO"] synonym: "endemic goiters" EXACT [] synonym: "Iodine-deficiency-related endemic goitre" EXACT [] synonym: "simple goitre" EXACT [] xref: EFO:1000916 xref: ICD10CM:E01.2 xref: ICD9CM:240.0 xref: MESH:D006043 xref: NCI:C35023 is_a: DOID:12176 ! goiter is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:13200 name: substernal goiter def: "An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms." [MESH:D006045] synonym: "Intrathoracic Goiter" EXACT [] synonym: "Intrathoracic Goiters" EXACT [] synonym: "retrosternal thyroid goiter" EXACT [] synonym: "Retrosternal thyroid goitre" EXACT [] synonym: "Substernal Goiters" EXACT [] synonym: "substernal goitre" EXACT [] xref: EFO:1001198 xref: MESH:D006045 is_a: DOID:12176 ! goiter [Term] id: DOID:13206 name: nodular prostate xref: ICD10CM:N40 xref: ICD9CM:600.1 is_a: DOID:11132 ! prostatic hypertrophy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13207 name: proliferative diabetic retinopathy def: "This advanced, severe stage of diabetic retinopathy mainly occurs when many of the blood vessels in the retina close, preventing sufficient blood flow. In an attempt to supply blood to the area where the original vessels closed, the retina responds by growing new blood vessels, which is called neovascularization." [] synonym: "High risk PDR" EXACT [] synonym: "High risk proliferative diabetic retinopathy" EXACT [] synonym: "High risk proliferative retinopathy" EXACT [] synonym: "PDR" EXACT [] xref: EFO:0009322 xref: ICD9CM:362.02 xref: MONDO:0001660 xref: NCI:C84457 is_a: DOID:8947 ! diabetic retinopathy [Term] id: DOID:13208 name: background diabetic retinopathy def: "This is the earliest stage of diabetic retinopathy, which involves damaged blood vessels in the retina beginning to leak extra fluid and small amounts of blood into the eye." [] synonym: "BDR" EXACT [] synonym: "Non proliferative diabetic retinopathy" EXACT [] synonym: "nonproliferative diabetic retinopathy" EXACT [] synonym: "NPDR" EXACT [] xref: EFO:0009760 xref: ICD9CM:362.03 xref: NCI:C35668 xref: RDO:9000105 is_a: DOID:8947 ! diabetic retinopathy [Term] id: DOID:13209 name: right bundle branch block synonym: "right bundle branch blocks" EXACT [] synonym: "right bundle branch block with left posterior fascicular block" EXACT [] xref: ICD9CM:426.51 is_a: DOID:10273 ! heart conduction disease is_a: DOID:9003912 ! Bundle-Branch Block [Term] id: DOID:13214 name: hole retinal cyst synonym: "Macular cyst, hole, or pseudohole of retina" EXACT [] synonym: "Macular cyst or hole" EXACT [] synonym: "Macular pseudohole retinal cyst" EXACT [] xref: ICD10CM:H35.34 xref: ICD9CM:362.54 is_a: DOID:2007 ! degeneration of macula and posterior pole created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:13222 name: submucous uterine fibroid def: "An uterine fibroid that is located adjacent to the lining of the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25177608 "DO"] synonym: "submucous leiomyoma of uterus" EXACT [] xref: ICD10CM:D25.0 xref: ICD9CM:218.0 is_a: DOID:13223 ! uterine fibroid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13223 name: uterine fibroid def: "An uterine benign neoplasm derived from the smooth muscle layer of the uterus. (DO)" [http://en.wikipedia.org/wiki/Uterine_fibroid "DO", http://www.nlm.nih.gov/medlineplus/uterinefibroids.html "DO"] synonym: "EFO:0000731" EXACT [] synonym: "leiomyoma of corpus uteri" EXACT [] synonym: "plexiform leiomyoma" EXACT [] synonym: "UL" EXACT [] synonym: "uterine fibroids" EXACT [] synonym: "uterine leiomyoma" EXACT [] synonym: "uterus fibroma" EXACT [] xref: EFO:0000731 xref: ICD10CM:D25 xref: ICD9CM:218 xref: MIM:150699 xref: NCI:C3434 is_a: DOID:0050871 ! fibroma is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13226 name: oculoglandular tularemia def: "A tularemia that results_in inflammation of eye and swelling of lymph glands in front of the ear. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"] xref: ICD10CM:A21.1 xref: ICD9CM:021.3 is_a: DOID:2123 ! tularemia is_a: DOID:75 ! lymphatic system disease is_a: DOID:9008201 ! Eye Infections created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:13227 name: retinal dystrophies primarily involving Bruch's membrane synonym: "retinal dystrophies primarily involving Bruch membrane" EXACT [] xref: ICD9CM:362.77 xref: RDO:9002923 is_a: DOID:8501 ! fundus dystrophy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13238 name: Haverhill fever def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Streptobacillus moniliformis, which is transmitted_by contact with urine or secretions from the mouth, eye, or nose of an infected animal or transmitted_by bite of an infected animal, especially rat. The infection has_symptom chills, has_symptom fever, has_symptom rash and has_symptom joint pain. (DO)" [https://en.wikipedia.org/wiki/Haverhill_fever "DO"] synonym: "streptobacillary fever" EXACT [] synonym: "Streptobacillary rat-bite fever" RELATED [] synonym: "Streptobacillosis" RELATED [] xref: ICD10CM:A25.1 xref: ICD9CM:026.1 is_a: DOID:0050338 ! primary bacterial infectious disease created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:13239 name: internal pathological resorption xref: ICD9CM:521.41 is_a: DOID:13240 ! tooth resorption [Term] id: DOID:1324 name: lung cancer def: "A respiratory system cancer that is located_in the lung. (DO)" [http://en.wikipedia.org/wiki/Lung_cancer "DO"] synonym: "adenocarcinoma of lung" NARROW [] synonym: "Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, somatic" RELATED [] synonym: "ADENOCARCINOMA OF LUNG, SUSCEPTIBILITY TO" RELATED [] synonym: "cancer of lung" EXACT [] synonym: "cancer of the lung" EXACT [] synonym: "CHRNA3-RELATED CONDITION" BROAD [] synonym: "EGFR-RELATED CONDITION" BROAD [] synonym: "EGFR-RELATED LUNG CANCER" NARROW [] synonym: "LNCR1" RELATED [] synonym: "LNCR2" RELATED [] synonym: "LNCR3" RELATED [] synonym: "LNCR4" RELATED [] synonym: "LNCR5" RELATED [] synonym: "LUNG CANCER, PROTECTION AGAINST" RELATED [] synonym: "LUNG CANCER, PROTECTION AGAINST, IN SMOKERS" RELATED [] synonym: "lung cancers" EXACT [] synonym: "lung cancer, somatic" NARROW [] synonym: "lung cancer susceptibility 1" RELATED [] synonym: "lung cancer susceptibility 2" RELATED [] synonym: "lung cancer susceptibility 3" RELATED [] synonym: "lung cancer susceptibility 4" RELATED [] synonym: "lung cancer susceptibility 5" RELATED [] synonym: "lung cancer, susceptibility to" RELATED [] synonym: "pulmonary cancer" EXACT [] synonym: "pulmonary cancers" EXACT [] xref: ICD10CM:C34.1 xref: ICD10CM:C34.2 xref: ICD10CM:C34.3 xref: ICD9CM:162.3 xref: ICD9CM:162.4 xref: ICD9CM:162.5 xref: ICD9CM:162.8 xref: MIM:211980 xref: MIM:608935 xref: MIM:612052 xref: MIM:612571 xref: MIM:612593 xref: MIM:614210 xref: MONDO:0008903 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:9005172 ! Lung Neoplasms created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:13240 name: tooth resorption def: "Resorption of calcified dental tissue, involving demineralization due to reversal of the cation exchange and lacunar resorption by osteoclasts. There are two types: external (as a result of tooth pathology) and internal (apparently initiated by a peculiar inflammatory hyperplasia of the pulp). (From Jablonski, Dictionary of Dentistry, 1992, p676)" [] synonym: "tooth resorptions" EXACT [] xref: ICD9CM:521.4 xref: MESH:D014091 is_a: DOID:1091 ! tooth disease is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:13241 name: Behcet's disease alt_id: MIM:109650 def: "A vasculitis that is characterized by an autoimmune mediated inflammation of the blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis. (DO)" [http://en.wikipedia.org/wiki/Beh%C3%A7et%27s_disease "DO", http://www.nlm.nih.gov/medlineplus/behcetssyndrome.html "DO"] synonym: "Adamantiades Behcet Disease" EXACT [] synonym: "Adamantiades-Behcet Diseases" EXACT [] synonym: "BD" EXACT [] synonym: "Behcet's Syndrome" EXACT [] synonym: "Behcet Disease" EXACT [] synonym: "Behcets Syndrome" EXACT [] synonym: "Behcet Syndrome" EXACT [] synonym: "Behcet Triple Symptom Complex" EXACT [] synonym: "Behet's syndrome" EXACT [] synonym: "Behçet Disease" EXACT [] synonym: "Behçet Diseases" EXACT [] synonym: "Old Silk Route Disease" EXACT [] synonym: "triple symptom complex" EXACT [] xref: EFO:0003780 xref: GARD:848 xref: ICD10CM:M35.2 xref: ICD9CM:136.1 xref: MESH:D001528 xref: NCI:C34416 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:1407 ! anterior uveitis is_a: DOID:403 ! mouth disease is_a: DOID:865 ! vasculitis is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:13248 name: mucocele of appendix synonym: "appendicele mucocele" EXACT [] xref: NCI:C3241 is_a: DOID:5295 ! intestinal disease is_a: DOID:9004508 ! Mucocele created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13249 name: pneumatosis cystoides intestinalis def: "A condition characterized by the presence of multiple gas-filled cysts in the intestinal wall, the submucosa and/or subserosa of the INTESTINE. The majority of the cysts are found in the JEJUNUM and the ILEUM." [MESH:D011006] xref: EFO:1001113 xref: MESH:D011006 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:1325 name: bronchus cancer def: "A respiratory system cancer that is located_in the bronchus. (DO)" [http://en.wikipedia.org/wiki/Bronchus "DO"] synonym: "malignant neoplasm of bronchus and lung" EXACT [] synonym: "malignant neoplasm of bronchus and lung, unspecified" EXACT [] synonym: "malignant neoplasm of bronchus or lung" EXACT [] synonym: "malignant neoplasm of bronchus or lung, unspecified" EXACT [] xref: ICD10CM:C34 xref: ICD9CM:162.9 is_a: DOID:1324 ! lung cancer is_a: DOID:9001241 ! Bronchial Neoplasms created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:13250 name: diarrhea def: "A gastrointestinal system disease described as the condition of having frequent loose or liquid bowel movements. Acute diarrhea is a common cause of death in developing countries and the second most common cause of infant deaths worldwide. The loss of fluids through diarrhea can cause severe dehydration which is one cause of death in diarrhea sufferers. Along with water, sufferers also lose dangerous amounts of important salts, electrolytes, and other nutrients. There are at least four types of diarrhea: secretory diarrhea, osmotic diarrhea, motility-related diarrhea, and inflammatory diarrhea. (DO)" [http://en.wikipedia.org/wiki/Diarrhea#Types_of_diarrhea "DO"] synonym: "diarrhea of presumed infectious origin" RELATED [] synonym: "diarrheas" EXACT [] synonym: "diarrhoea" EXACT [] xref: MESH:D003967 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:13252 name: mesenteric vascular occlusion def: "Obstruction of the flow in the SPLANCHNIC CIRCULATION by ATHEROSCLEROSIS; EMBOLISM; THROMBOSIS; STENOSIS; TRAUMA; and compression or intrinsic pressure from adjacent tumors. Rare causes are drugs, intestinal parasites, and vascular immunoinflammatory diseases such as PERIARTERITIS NODOSA and THROMBOANGIITIS OBLITERANS. (From Juergens et al., Peripheral Vascular Diseases, 5th ed, pp295-6)" [MESH:D008641] synonym: "mesenteric vascular occlusions" EXACT [] xref: EFO:1001043 xref: MESH:D008641 is_a: DOID:341 ! peripheral vascular disease is_a: DOID:5295 ! intestinal disease is_a: DOID:9006175 ! Peritoneal Diseases is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:13254 name: diverticulitis of colon def: "A colonic disease characterized by the formation and inflammation of diverticula within the colon wall. (DO)" [https://en.wikipedia.org/wiki/Diverticulitis "DO"] synonym: "colonic diverticular disease" EXACT [] synonym: "colonic diverticulitis" EXACT [] xref: MESH:D004239 is_a: DOID:5353 ! colonic disease is_a: DOID:7475 ! diverticulitis is_a: DOID:9007768 ! Colonic Diverticulosis [Term] id: DOID:13258 name: typhoid fever def: "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia. (DO)" [http://www.merriam-webster.com/medlineplus/typhoid%20fever "DO"] synonym: "Abdominal Typhus" EXACT [] synonym: "Enteric Fever" EXACT [] synonym: "enteric fevers" EXACT [] synonym: "Typhoid" EXACT [] synonym: "Typhoid Fevers" EXACT [] synonym: "typhoids" EXACT [] xref: EFO:0006789 xref: GARD:9564 xref: ICD10CM:A01.0 xref: ICD9CM:002.0 xref: MESH:D014435 xref: NCI:C35089 is_a: DOID:0060859 ! salmonellosis [Term] id: DOID:13268 name: porphyria def: "An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. (DO)" [http://en.wikipedia.org/wiki/Porphyria#Subtypes "DO"] synonym: "disorder of porphyrin and hem metabolism" EXACT [] synonym: "disorder of porphyrin metabolism" EXACT [] synonym: "hematoporphyria" EXACT [] synonym: "HFE POLYMORPHISM" RELATED [] synonym: "porphyrias" EXACT [] synonym: "Porphyrin Disorder" EXACT [] synonym: "Porphyrin Disorders" EXACT [] synonym: "porphyrinopathy" EXACT [] xref: EFO:0000665 xref: GARD:10353 xref: ICD10CM:E80.20 xref: ICD9CM:277.1 xref: MESH:D011164 xref: MONDO:0037939 xref: NCI:C97096 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:13269 name: hereditary coproporphyria alt_id: DOID:9005794 alt_id: MIM:121300 alt_id: RDO:0000598 def: "An autosomal dominant porphyria that is due to a deficiency of COPROPORPHYRINOGEN OXIDASE in the LIVER, the sixth enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, 5-AMINOLEVULINATE and COPROPORPHYRINS." [MESH:D046349] synonym: "Coproporphyria" EXACT [] synonym: "COPROPORPHYRIA, DIGENIC" NARROW [] synonym: "coproporphyrinogen oxidase deficiency" EXACT [] synonym: "CPO deficiency" EXACT [] synonym: "CPOX deficiency" EXACT [] synonym: "CPOX-RELATED CONDITION" EXACT [] synonym: "CPOX-RELATED DISORDERS" EXACT [] synonym: "CPX DEFICIENCY HARDEROPORPHYRIA" NARROW [] synonym: "HCP" EXACT [] synonym: "hereditary coproporphyria porphyria" EXACT [] synonym: "Porphyria Hepatica, Coproporphyria" EXACT [] synonym: "porphyria hepatica II" EXACT [] xref: GARD:6619 xref: ICD10CM:E80.29 xref: MESH:C535469 xref: MESH:D046349 xref: NCI:C84759 is_a: DOID:0080578 ! digenic disease is_a: DOID:3133 ! acute porphyria is_a: DOID:9005584 ! Hepatic Porphyrias [Term] id: DOID:13270 name: erythropoietic protoporphyria def: "An acute porphyria characterized by a deficiency in the enzyme ferrochelatase, leading to abnormally high levels of protoporphyrin in the tissue. (DO)" [http://en.wikipedia.org/wiki/Erythropoietic_protoporphyria "DO"] synonym: "EPP" EXACT [] synonym: "erythrohepatic protoporphyria" EXACT [] synonym: "erythropoietic protoporphyrias" EXACT [] synonym: "Ferrochelatase Deficiencies" EXACT [] synonym: "Ferrochelatase Deficiency" EXACT [] synonym: "Heme Synthetase Deficiencies" EXACT [] synonym: "heme synthetase deficiency" EXACT [] synonym: "protoporphyria" EXACT [] xref: GARD:4527 xref: MESH:D046351 xref: MIM:PS177000 xref: NCI:C84698 xref: ORDO:79278 is_a: DOID:3133 ! acute porphyria is_a: DOID:9005584 ! Hepatic Porphyrias [Term] id: DOID:13271 name: cutaneous porphyria alt_id: MIM:263700 alt_id: RDO:0007025 def: "An autosomal recessive porphyria that is due to a deficiency of UROPORPHYRINOGEN III SYNTHASE in the BONE MARROW; also known as congenital erythropoietic porphyria. This disease is characterized by SPLENOMEGALY; ANEMIA; photosensitivity; cutaneous lesions; accumulation of hydroxymethylbilane; and increased excretion of UROPORPHYRINS and COPROPORPHYRINS." [MESH:D017092] synonym: "CEP" EXACT [] synonym: "congenital erythropoietic porphyria" EXACT [] synonym: "Congenital Erythropoietic Porphyrias" EXACT [] synonym: "Deficiency of Uroporphyrinogen III Synthase" EXACT [] synonym: "Erythropoietic Porphyrias" EXACT [] synonym: "Gunther's Disease" EXACT [] synonym: "Gunther Disease" EXACT [] synonym: "Gunthers Disease" EXACT [] synonym: "Porphyria, Erythropoietic" EXACT [] synonym: "UROPORPHYRINOGEN III SYNTHASE DEFICIENCY" EXACT [] synonym: "UROS deficiency" EXACT [] xref: GARD:4446 xref: ICD10CM:E80.0 xref: MESH:D017092 xref: NCI:C84697 is_a: DOID:13268 ! porphyria is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:13272 name: Klebsiella pneumonia def: "A bacterial pneumonia involving Klebsiella pneumoniae infection. Patients with Klebsiella pneumonia tend to cough up a characteristic sputum that is said to resemble red-currant jelly. Klebsiella pneumonia tends to affect people with underlying diseases, such as alcoholism, diabetes and chronic lung disease. The symptoms include high fever, rigors and pleuritic pain, and hemoptysis. (DO)" [http://en.wikipedia.org/wiki/Klebsiella_pneumonia "DO", https://www.ncbi.nlm.nih.gov/pubmed/1555037 "DO"] synonym: "Pneumonia due to Klebsiella pneumoniae" EXACT [ICD9CM_2006:482.0] synonym: "Pneumonia due to Klebsiella pneumoniae (disorder)" EXACT [SNOMEDCT_2005_07_31:64479007] xref: ICD10CM:J15.0 xref: ICD9CM:482.0 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9003828 ! Klebsiella Infections created_by: rgd creation_date: 2018-06-19T00:00:00Z [Term] id: DOID:13276 name: Mycoplasma pneumoniae pneumonia def: "A bacterial pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat. (DO)" [http://en.wikipedia.org/wiki/Pneumonia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000082.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/20632053 "DO"] synonym: "cold agglutinin positive pneumonia" EXACT [] synonym: "mycoplasmal pneumonia" EXACT [] synonym: "mycoplasma pneumonia" EXACT [] synonym: "mycoplasma pneumonias" EXACT [] synonym: "pneumonia due to Eaton's agent" EXACT [] synonym: "pneumonia due to mycoplasma pneumoniae" EXACT [] synonym: "pneumonia due to mycoplasma pneumoniae (disorder)" EXACT [] synonym: "Primary Atypical Pneumonia" EXACT [] synonym: "primary atypical pneumonias" EXACT [] xref: EFO:0007387 xref: ICD10CM:J15.7 xref: ICD9CM:483.0 xref: MESH:D011019 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9002467 ! Mycoplasma Infections [Term] id: DOID:1328 name: Rift Valley fever def: "A viral infectious disease that results_in infection, has_material_basis_in Rift Valley fever virus, which is transmitted_by Aedes mosquitoes. The virus affects domestic animals (cattle, buffalo, sheep, goats, and camels) and humans. The infection has_symptom jaundice, has_symptom vomiting blood, has_symptom passing blood in the feces, has_symptom ecchymoses (caused by bleeding in the skin), has_symptom bleeding from the nose or gums, has_symptom menorrhagia and has_symptom bleeding from venepuncture sites. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/rvf/rvf_qa.htm "DO", http://www.who.int/mediacentre/factsheets/fs207/en/ "DO"] xref: ICD10CM:A92.4 xref: MESH:D012295 xref: NCI:C128419 is_a: DOID:9004137 ! Bunyaviridae Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers is_a: DOID:9007579 ! Arbovirus Infections is_a: DOID:9007899 ! Animal Viral Hepatitis [Term] id: DOID:13282 name: intestinal tuberculosis def: "A gastrointestinal tuberculosis that involves diffuse mucosal fold thickening, formation of ulcers and fistulae located_in intestine. The infection has_symptom abdominal pain, has_symptom gastrointestinal bleeding, has_symptom nausea and has_symptom vomiting. (DO)" [http://smj.sma.org.sg/5006/5006pe1.pdf "DO"] synonym: "tuberculosis of intestine" EXACT [] xref: ICD9CM:014.8 is_a: DOID:404 ! gastrointestinal tuberculosis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:13295 name: crater-like holes of optic disc synonym: "Crater-like optic disc holes" EXACT [SNOMEDCT_2005_07_31:194048008] xref: ICD9CM:377.22 xref: RDO:9003396 is_a: DOID:1393 ! visual pathway disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:133 name: vaginal Mullerian papilloma def: "A vaginal benign neoplasm that presents in childhood and is considered to be of Mullerian origin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26948653 "DO"] synonym: "vaginal Muellerian papilloma" EXACT [] xref: NCI:C40255 is_a: DOID:0060114 ! vaginal benign neoplasm created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:13300 name: Scheuermann's disease alt_id: MIM:181440 def: "An osteochondrosis that results_in abnormal bone growth and curvature located_in thoracic vertebral column. (DO)" [http://en.wikipedia.org/wiki/Scheuermann%27s_disease "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Scheuermann%27s%20disease "DO"] synonym: "adolescent kyphoses" EXACT [] synonym: "Adolescent Kyphosis" EXACT [] synonym: "juvenile kyphoses" EXACT [] synonym: "Juvenile Kyphosis" EXACT [] synonym: "juvenile osteochondritis of the spine" EXACT [] synonym: "juvenile osteochondrosis of Scheurermann" EXACT [] synonym: "Juvenile Osteochondrosis of Spine" EXACT [] synonym: "Scheuermann's kyphoses" EXACT [] synonym: "Scheuermann's kyphosis" EXACT [] synonym: "Scheuermann disease" EXACT [] synonym: "Scheuermann juvenile kyphoses" EXACT [] synonym: "Scheuermann Juvenile Kyphosis" EXACT [] synonym: "Scheuermann Kyphoses" EXACT [] synonym: "Scheuermann Kyphosis" EXACT [] synonym: "Scheuermanns Disease" EXACT [] synonym: "Scheuermanns kyphosis" EXACT [] synonym: "Sherman's disease" EXACT [] synonym: "spine juvenile osteochondroses" EXACT [] synonym: "spine juvenile osteochondrosis" EXACT [] xref: GARD:7610 xref: ICD10CM:M42.0 xref: ICD10CM:M42.00 xref: ICD9CM:732.0 xref: MESH:D012544 xref: NCI:C34999 is_a: DOID:4667 ! kyphosis is_a: DOID:9008900 ! Spinal Osteochondrosis [Term] id: DOID:13306 name: diphtheritic cystitis def: "A cystits which involves inflammation and formation of a dense fibrous false membrane on the mucous membrane of the bladder. (DO)" [http://books.google.com/books?id=qpCgt_azaBcC&pg=PA191&lpg=PA191&dq#v=onepage&q=&f=false "DO", https://www.ncbi.nlm.nih.gov/pubmed/18889690 "DO"] xref: ICD10CM:A36.85 xref: ICD9CM:032.84 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13310 name: diphtheritic peritonitis def: "A peritonitis which involves inflammation of peritoneal cavity by Corynebacterium diphtheriae. (DO)" [http://books.google.com/books?id=PRvTKedFeN8C&pg=PA505&lpg=PA505&dq#v=onepage&q=&f=false "DO"] xref: ICD10CM:A36.89 xref: ICD9CM:032.83 is_a: DOID:8283 ! peritonitis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13313 name: pancreatic mucinous ductal ectasia xref: NCI:C5717 xref: RDO:9004839 is_a: DOID:26 ! pancreas disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13316 name: exocrine pancreatic insufficiency def: "A pancreas disease that is characterized by the inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK555926/ "DO"] synonym: "EPI" EXACT [] synonym: "exocrine pancreatic insufficiencies" EXACT [] synonym: "pancreatic insufficiencies" EXACT [] synonym: "pancreatic insufficiency" EXACT [] xref: ICD10CM:K86.81 xref: MESH:D010188 xref: MONDO:0001684 xref: NCI:C84316 is_a: DOID:26 ! pancreas disease [Term] id: DOID:13317 name: hyperinsulinemic hypoglycemia alt_id: MESH:C538567 def: "A carbohydrate metabolic disorder that involves low blood glucose resulting from an excess of insulin. (DO)" [http://en.wikipedia.org/wiki/Hyperinsulinemic_hypoglycemia "DO"] synonym: "autosomal recessive hyperinsulinism" EXACT [] synonym: "familial hyperinsulinism with pancreatic nesidioblastosis" EXACT [] synonym: "hyperinsulinemia hypoglycemia of infancy" EXACT [] synonym: "hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia" EXACT [] synonym: "hyperinsulinemic hypoglycemia of infancy" EXACT [] synonym: "infancy hyperinsulinemia hypoglycemia" EXACT [] synonym: "islet cell hyperplasia" EXACT [] synonym: "nesidioblastoses" EXACT [] synonym: "nesidioblastosis" EXACT [] synonym: "nesidioblastosis of pancreas" EXACT [] synonym: "pancreas nesidioblastoses" EXACT [] synonym: "pancreas nesidioblastosis" EXACT [] synonym: "pancreatic nesidioblastoses" EXACT [] synonym: "pancreatic nesidioblastosis" EXACT [] synonym: "persistent hyperinsulinemia, hypoglycemia of infancy" EXACT [] synonym: "persistent hyperinsulinemic hypoglycemia" EXACT [] synonym: "persistent hyperinsulinemic hypoglycemia of infancy" EXACT [] synonym: "persistent hyperinsulinemic hypoglycemias" EXACT [] synonym: "PHHI" EXACT [] synonym: "PHHI hypoglycemia" EXACT [] synonym: "PHHI hypoglycemias" EXACT [] xref: EFO:0007318 xref: ICD10CM:E16.9 xref: MESH:D046768 xref: MIM:PS256450 xref: NCI:C122923 xref: NCI:C4375 is_a: DOID:9006828 ! Congenital Hyperinsulinism is_a: DOID:9993 ! hypoglycemia created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:13326 name: chronic follicular conjunctivitis xref: ICD10CM:H10.43 xref: ICD9CM:372.12 xref: RDO:9003791 is_a: DOID:2475 ! chronic conjunctivitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13327 name: anatomical narrow angle borderline glaucoma def: "A borderline glaucoma characterized by an anatomically narrow anterior chamber angle with or without additional clinical features and risk factors associated with high likelihood of developing glaucomatous optic atrophy in the future. These additional features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/ "DO"] xref: ICD9CM:365.02 is_a: DOID:9283 ! borderline glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13328 name: diabetic cataract def: "A cataract that is characterized by loss of lens transparency secondary to hyperglycemia related to diabetes mellitus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23479523 "DO"] xref: ICD9CM:366.41 xref: RDO:9000785 is_a: DOID:83 ! cataract is_a: DOID:9002661 ! Diabetes Complications created_by: rgd creation_date: 2015-10-07T00:00:00Z [Term] id: DOID:13329 name: toxic optic neuropathy synonym: "toxic optic neuropathies" EXACT [] xref: ICD10CM:H46.3 xref: ICD9CM:377.34 xref: MESH:D000081028 is_a: DOID:1210 ! optic neuritis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13333 name: hypertrophy of tongue papillae synonym: "tongue papillary hypertrophy" EXACT [] xref: ICD10CM:K14.3 xref: ICD9CM:529.3 xref: MONDO:0001689 is_a: DOID:10944 ! tongue disease [Term] id: DOID:13336 name: congenital toxoplasmosis def: "A toxoplasmosis that involves a reactivated infection of the mother transmitted to the fetus during pregnancy. Spontaneous abortion and stillbirth may occur. (DO)" [http://www.merck.com/mmpe/sec14/ch186/ch186h.html?qt=toxoplasmosis&alt=sh "DO", http://www.who.int/bulletin/volumes/91/7/12-111732.pdf "DO"] synonym: "Congenital Toxoplasma gondii Infection" EXACT [] synonym: "Congenital Toxoplasma Infection" EXACT [] synonym: "congenital toxoplasma infections" EXACT [] synonym: "congenital toxoplasmoses" EXACT [] synonym: "Fetal Toxoplasmoses" EXACT [] synonym: "Fetal Toxoplasmosis" EXACT [] synonym: "Prenatal Toxoplasmoses" EXACT [] synonym: "prenatal toxoplasmosis" EXACT [] synonym: "toxoplasmosis - congen." EXACT [] xref: EFO:0007220 xref: GARD:10326 xref: ICD10CM:P37.1 xref: MESH:D014125 xref: NCI:C50503 xref: ORDO:858 is_a: DOID:0080015 ! physical disorder is_a: DOID:9002216 ! Central Nervous System Protozoal Infections is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9965 ! toxoplasmosis [Term] id: DOID:13341 name: parasitic conjunctivitis xref: ICD9CM:372.15 is_a: DOID:2475 ! chronic conjunctivitis is_a: DOID:9004432 ! Parasitic Eye Infections created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13348 name: laryngeal cartilage cancer synonym: "malignant neoplasm of laryngeal cartilage" EXACT [] synonym: "malignant neoplasm of laryngeal cartilages" EXACT [] synonym: "malignant tumor of laryngeal cartilage" EXACT [] xref: ICD10CM:C32.3 xref: ICD9CM:161.3 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:13351 name: pedophilia def: "A sexual disorder occurring in a person 16 years or older and that is recurrent with intense sexually arousing fantasies, sexual urges, or behaviors involving sexual activity with a prepubescent child (generally age 13 or younger). (from APA, DSM-IV, 1994)." [MESH:D010378] synonym: "paedophilia" EXACT [] synonym: "pedophilias" EXACT [] xref: ICD10CM:F65.4 xref: ICD9CM:302.2 xref: MESH:D010378 xref: NCI:C94355 is_a: DOID:0060044 ! paraphilia disorder [Term] id: DOID:13352 name: ego-dystonic sexual orientation def: "A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. (DO)" [http://en.wikipedia.org/wiki/Ego-dystonic_sexual_orientation "DO"] xref: ICD9CM:302.0 is_a: DOID:0060043 ! sexual health disorder created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13353 name: diffuse interstitial keratitis xref: ICD9CM:370.52 is_a: DOID:9857 ! interstitial keratitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13356 name: senile ectropion synonym: "involutional ectropion" EXACT [] xref: ICD9CM:374.11 is_a: DOID:1570 ! ectropion [Term] id: DOID:13357 name: chondromalacia patellae alt_id: MIM:168900 def: "A chondromalacia that is characterized by well-localized pain when the patella is grated against the femoral condyles or when the knee is actively extended with the patella manually displaced distally. This occurs when the posterior articular surface of the patella starts losing its density when in a healthy state and becomes softer with subsequent tearing, fissuring, and erosion of the hyaline cartilage. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459195 "DO", MESH:D046789] synonym: "chondromalacia of patella" EXACT [] synonym: "softening of articular cartilage of patella" EXACT [] xref: ICD10CM:M22.4 xref: ICD9CM:717.7 xref: MESH:D046789 is_a: DOID:2557 ! chondromalacia [Term] id: DOID:13359 name: Ehlers-Danlos syndrome def: "A collagen disease that is characterized by extremely flexible joints, elastic skin, and excessive bruising caused by a heritable defect in collagen synthesis, which leads to marked healing difficulties. EDS has five cardinal signs, which may be present to some degree in all of the subtypes. These five cardinal signs are skin fragility, blood vessel fragility, skin hyperelasticity, joint hypermobility, and characteristic subcutaneous nodules. (DO)" [http://en.wikipedia.org/wiki/Ehlers%E2%80%93Danlos_syndrome "DO", http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome "DO", http://www.mayoclinic.com/health/ehlers-danlos-syndrome/DS00706 "DO", http://www.merriam-webster.com/medlineplus/ehlers-Danlos "DO", http://www.nlm.nih.gov/medlineplus/ehlersdanlossyndrome.html "DO", https://www.ehlers-danlos.com/what-is-eds/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23711271 "DO"] synonym: "cutis elastica" EXACT [] synonym: "cutis hyperelastica" EXACT [] synonym: "Ehlers Danlos Disease" EXACT [] synonym: "elastic skin" EXACT [] xref: GARD:6322 xref: ICD10CM:Q79.6 xref: ICD9CM:756.83 xref: MESH:D004535 xref: MIM:PS130000 xref: NCI:C34568 is_a: DOID:225 ! syndrome is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:854 ! collagen disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:13365 name: reading disorder def: "A learning disability involing difficulty reading resulting primarily from neurological factors which affect any part of the reading process. (DO)" [http://en.wikipedia.org/wiki/Reading_disability "DO", https://en.wikipedia.org/wiki/Learning_disability "DO"] synonym: "reading disorders" EXACT [] xref: ICD9CM:315.09 is_a: DOID:8927 ! learning disability created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13366 name: Stiff-Person syndrome alt_id: MESH:C538136 alt_id: MIM:184850 def: "A movement disease that is of unknown etiology characterized by progressive rigidity. (DO)" [http://en.wikipedia.org/wiki/Stiff_person_syndrome "DO"] synonym: "congenital stiff-man syndrome" EXACT [] synonym: "congenital stiff-man syndromes" EXACT [] synonym: "congenital stiff-person syndrome" EXACT [] synonym: "congenital stiff-person syndromes" EXACT [] synonym: "familial startle disease" EXACT [] synonym: "hereditary hyperekplexia" EXACT [] synonym: "Moersch Woltmann Syndrome" EXACT [] synonym: "PER" NARROW [] synonym: "PERM" NARROW [] synonym: "progressive encephalomyelitis with rigidity" NARROW [] synonym: "SPS" EXACT [] synonym: "Startle Syndrome" EXACT [] synonym: "Startle Syndromes" EXACT [] synonym: "stiff-baby syndrome" EXACT [] synonym: "stiff-baby syndromes" EXACT [] synonym: "stiff man syndrome" EXACT [] synonym: "stiffman syndrome" EXACT [] synonym: "stiff-trunk syndrome" EXACT [] synonym: "stiff-trunk syndromes" EXACT [] xref: EFO:0007498 xref: GARD:5023 xref: ICD10CM:G25.82 xref: ICD9CM:333.91 xref: MESH:D016750 xref: NCI:C85170 is_a: DOID:0060695 ! hyperekplexia is_a: DOID:225 ! syndrome is_a: DOID:319 ! spinal cord disease is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:480 ! movement disease [Term] id: DOID:13368 name: tinea profunda def: "A tinea corporis that results_in fungal infection located_in skin, has_material_basis_in Trichophyton mentagrophytes and results_in_formation_of subcutaneous abscesses. (DO)" [https://www.sciencedirect.com/topics/pharmacology-toxicology-and-pharmaceutical-science/tinea "DO"] synonym: "deep seated dermatophytosis" EXACT [] synonym: "granuloma trichophyticum" EXACT [] synonym: "Majocchi's granuloma" EXACT [] is_a: DOID:12179 ! tinea corporis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13369 name: tinea manuum def: "A dermatophytosis that results_in fungal skin infection located_in hand, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching, has_symptom burning, has_symptom cracking, and has_symptom scaling. (DO)" [http://en.wikipedia.org/wiki/Tinea_manuum "DO"] synonym: "dermatophytosis of hand" EXACT [] synonym: "tinea manus" EXACT [] xref: ICD10CM:B35.2 xref: ICD9CM:110.2 xref: MESH:C000656824 is_a: DOID:1563 ! dermatomycosis is_a: DOID:8913 ! dermatophytosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13371 name: scrub typhus def: "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted by trombiculid mites (Leptotrombidium deliense). The infection has symptom fever, has symptom headache, has symptom muscle pain, has symptom cough, has symptom maculopapular rash, has symptom eschar, has symptom splenomegaly and has symptom lymphadenopathy. (DO)" [http://en.wikipedia.org/wiki/Scrub_typhus "DO"] synonym: "Chigger-borne rickettsiosis" RELATED [] synonym: "Chigger-borne typhus" RELATED [] synonym: "Japanese river fever" EXACT [] synonym: "Kedani fever" EXACT [] synonym: "Mite-borne rickettsiosis" RELATED [] synonym: "Mite-borne typhus" RELATED [] synonym: "scrub mite-borne typhus" EXACT [] synonym: "Tropical typhus" RELATED [] synonym: "Tsutsugamushi" EXACT [MTHICD9_2006:081.2] synonym: "Tsutsugamushi Disease" EXACT [] synonym: "Tsutsugamushi Diseases" EXACT [] synonym: "Tsutsugamushi Fever" EXACT [] synonym: "Tsutsugamushi Fevers" EXACT [] synonym: "Typhus fever due to Rickettsia tsutsugamushi" EXACT [] xref: EFO:0007480 xref: ICD10CM:A75.3 xref: ICD9CM:081.2 xref: MESH:D012612 is_a: DOID:11256 ! typhus is_a: DOID:9000458 ! Rickettsiaceae Infections [Term] id: DOID:13372 name: alpha 1-antitrypsin deficiency def: "A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells. (DO)" [http://en.wikipedia.org/wiki/Alpha_1-antitrypsin_deficiency "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000120.htm "DO", https://alpha1.org/what-is-alpha1/ "DO", https://www.genome.gov/Genetic-Disorders/Alpha-1-Antitrypsin-Deficiency "DO"] synonym: "'ANTITHROMBIN' PITTSBURGH" RELATED [] synonym: "A1ATD" EXACT [] synonym: "AAT deficiency" EXACT [] synonym: "alpha 1-antitrypsin deficiencies" EXACT [] synonym: "alpha-1-antitrypsin deficiency, autosomal recessive" EXACT [] synonym: "alpha-1 protease inhibitor deficiency" EXACT [] synonym: "Alpha-1 Related Emphysema" EXACT [] synonym: "Emphysema-cirrhosis, due to AAT deficiency" NARROW [] synonym: "Emphysema due to AAT deficiency" NARROW [] synonym: "Genetic Emphysema" EXACT [] synonym: "Hemorrhagic diathesis due to antithrombin Pittsburgh" NARROW [] synonym: "HEMORRHAGIC DISEASE DUE TO ALPHA-1-ANTITRYPSIN PITTSBURGH MUTATION" NARROW [] synonym: "Hereditary Pulmonary Emphysema" EXACT [] synonym: "Inherited Emphysema" EXACT [] synonym: "PI M(HEERLEN)" RELATED [] synonym: "PI M(NICHINAN)" RELATED [] synonym: "PI NULL(BELLINGHAM)" RELATED [] synonym: "PI NULL(CARDIFF)" RELATED [] synonym: "PI NULL(DEVON)" RELATED [] synonym: "PI NULL(ISOLA DI PROCIDA)" RELATED [] synonym: "PI NULL(Ludwigshafen)" RELATED [] synonym: "PI NULL(NEWPORT)" RELATED [] synonym: "PI NULL(PROCIDA)" RELATED [] synonym: "PI P(DUARTE)" RELATED [] synonym: "PI P(LOWELL)" RELATED [] synonym: "PI PITTSBURGH" RELATED [] synonym: "PI Q0(BELLINGHAM)" RELATED [] synonym: "PI Q0(CARDIFF)" RELATED [] synonym: "PI Q0(DEVON)" RELATED [] synonym: "PI Q0(GRANITE FALLS)" RELATED [] synonym: "PI Q0(LUDWIGSHAFEN)" RELATED [] synonym: "PI Q0(NEWPORT)" RELATED [] synonym: "PI Q0(Procida)" RELATED [] synonym: "PI S(iiyama)" RELATED [] synonym: "PI W(Bethesda)" RELATED [] synonym: "PI Z(Bristol)" RELATED [] synonym: "SERPINA1-related condition" BROAD [] xref: EFO:0002946 xref: GARD:5784 xref: ICD10CM:E88.01 xref: ICD9CM:273.4 xref: MESH:C566273 xref: MESH:D019896 xref: MIM:613490 xref: MONDO:0013282 xref: NCI:C84397 xref: ORDO:60 is_a: DOID:2345 ! plasma protein metabolism disease is_a: DOID:409 ! liver disease is_a: DOID:850 ! lung disease is_a: DOID:9000206 ! Subcutaneous Emphysema [Term] id: DOID:13374 name: fibrodysplasia ossificans progressiva def: "A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. (DO)" [http://en.wikipedia.org/wiki/Fibrodysplasia_ossificans_progressiva "DO", http://ghr.nlm.nih.gov/condition/fibrodysplasia-ossificans-progressiva "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2424023/ "DO", https://www.ucsfbenioffchildrens.org/conditions/fibrodysplasia-ossificans-progressiva "DO"] synonym: "FOP" EXACT [] synonym: "myositis ossificans progressiva" EXACT [] synonym: "progressive myositis ossificans" EXACT [] synonym: "progressive ossifying myositis" EXACT [] synonym: "stone man syndrome" EXACT [] xref: GARD:6445 xref: ICD10CM:M61.1 xref: ICD10CM:M61.10 xref: ICD9CM:728.11 xref: MIM:135100 xref: MONDO:0007606 xref: NCI:C3040 xref: ORDO:337 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13375 name: temporal arteritis alt_id: MESH:C538533 alt_id: MIM:187360 def: "A central nervous system vasculitis that is characterized by inflammation of the lining of arteries, often arteries in the head. (DO)" [https://www.mayoclinic.org/diseases-conditions/giant-cell-arteritis/symptoms-causes/syc-20372758 "DO"] synonym: "cranial arteritides" EXACT [] synonym: "cranial arteritis" EXACT [] synonym: "giant cell aortic arteritis" EXACT [] synonym: "giant cell aortitides" EXACT [] synonym: "Giant Cell Aortitis" EXACT [] synonym: "Giant Cell Aortitis, Horton's" EXACT [] synonym: "giant cell arteritides" EXACT [] synonym: "Giant Cell Arteritis" EXACT [] synonym: "Horton's Disease" EXACT [] synonym: "Horton's Giant Cell Arteritis" EXACT [] synonym: "Horton Disease" EXACT [] synonym: "Horton Giant Cell Arteritis" EXACT [] synonym: "Hortons Disease" EXACT [] synonym: "Juvenile cranial arteritis" EXACT [] synonym: "juvenile giant cell arteritis" EXACT [] synonym: "juvenile polymyalgia rheumatica" EXACT [] synonym: "juvenile temporal arteritides" EXACT [] synonym: "juvenile temporal arteritis" EXACT [] synonym: "temporal arteritides" EXACT [] xref: EFO:1001209 xref: ICD9CM:446.5 xref: MESH:D013700 xref: NCI:C35065 xref: ORDO:397 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:525 ! central nervous system vasculitis is_a: DOID:9002564 ! Arteritis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:13378 name: Kawasaki disease alt_id: MESH:C537014 alt_id: MIM:611775 def: "A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels and that symptoms of fever, congestion of ocular conjunctivae, reddening of lips, reddening of oral cavity, protuberance of tongue papillae and edema of extremities. (DO)" [http://en.wikipedia.org/wiki/Kawasaki_disease "DO"] synonym: "acute febrile MCLS" EXACT [] synonym: "acute febrile mucocutaneous lymph node syndrome" EXACT [] synonym: "infantile polyarteritis" EXACT [] synonym: "Kawasaki's disease" EXACT [] synonym: "Kawasaki syndrome" EXACT [] synonym: "KD" EXACT [] synonym: "MLNS" EXACT [] synonym: "mucocutaneous lymph node syndrome" EXACT [] xref: EFO:0004246 xref: GARD:6816 xref: ICD10CM:M30.3 xref: ICD9CM:446.1 xref: MESH:D009080 xref: NCI:C34825 xref: ORDO:2331 is_a: DOID:1602 ! lymphadenitis is_a: DOID:225 ! syndrome is_a: DOID:865 ! vasculitis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:1338 name: congenital dyserythropoietic anemia def: "A congenital hemolytic anemia characterized by ineffective erythropoiesis, and resulting from a decrease in the number of red blood cells (RBCs) in the body and a less than normal quantity of hemoglobin in the blood. (DO)" [http://en.wikipedia.org/wiki/Congenital_dyserythropoietic_anemia "DO", http://www.ncbi.nlm.nih.gov/books/NBK5313/ "DO"] synonym: "Congenital Dyserythropoietic Anemias" EXACT [] synonym: "congenital dyshaematopoietic anaemia" EXACT [] synonym: "syndromic congenital hemolytic and dyserythropoietic anemia" BROAD [] xref: GARD:1999 xref: ICD10CM:D64.4 xref: MESH:D000742 xref: MIM:PS224120 xref: NCI:C84646 xref: ORDO:85 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:13381 name: pernicious anemia def: "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to malabsorption of vitamin B12, has_symptom fatigue, pallor, shortness of breath, glossitis, ataxia, and/or paresthesia, has_material_basis_in atrophic gastritis, autoimmune disorder affecting the production or function of intrinsic factor, and/or genetic factors. (DO)" [https://medlineplus.gov/ency/article/000569.htm "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3441227/ "DO"] synonym: "Addison's anaemia" EXACT [] synonym: "Addison's anemia" EXACT [] synonym: "Addison anemia" EXACT [] synonym: "Addisons anemia" EXACT [] synonym: "Biermer's anaemia" EXACT [] synonym: "Biermer's anemia" EXACT [] synonym: "pernicious anaemia" EXACT [] xref: EFO:0005576 xref: GARD:12671 xref: ICD10CM:D51.0 xref: ICD9CM:281.0 xref: MESH:D000752 xref: MIM:170900 xref: MONDO:0008228 xref: NCI:C2871 is_a: DOID:0050731 ! vitamin B12 deficiency is_a: DOID:13382 ! megaloblastic anemia [Term] id: DOID:13382 name: megaloblastic anemia def: "A macrocytic anemia that is characterized by inhibition of DNA synthesis during red blood cell production. (DO)" [http://en.wikipedia.org/wiki/Megaloblastic_anemia "DO"] synonym: "megaloblastic anaemia" EXACT [] synonym: "MEGALOBLASTIC ANEMIA DUE TO INBORN ERRORS OF METABOLISM" NARROW [] synonym: "megaloblastic anemias" EXACT [] synonym: "recessive hereditary megaloblastic anaemia 1" EXACT [] xref: ICD10CM:D53.1 xref: MESH:D000749 xref: NCI:C34382 is_a: DOID:2361 ! macrocytic anemia [Term] id: DOID:13386 name: gastrointestinal anthrax def: "An anthrax disease that results in infection located in mucosa of gastrointestinal tract, has_material_basis_in Bacillus anthracis, which is transmitted by ingestion of anthrax-infected meat. The infection has symptom lesions, has symptom vomiting of blood, has symptom severe diarrhea, has symptom loss of appetite. (DO)" [http://www.springerlink.com/content/g3575hwr232l4411/ "DO", https://en.wikipedia.org/wiki/Anthrax#Gastrointestinal "DO"] xref: ICD10CM:A22.2 xref: ICD9CM:022.2 xref: MESH:C571911 is_a: DOID:7427 ! anthrax disease is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:13389 name: labia majora carcinoma def: "A vulva carcinoma that is located_in the labia majora. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27917514 "DO"] synonym: "carcinoma of labia majora" EXACT [] synonym: "labia majora cancer" EXACT [] xref: NCI:C9363 is_a: DOID:11905 ! labium majus cancer is_a: DOID:1294 ! vulva carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:1339 name: Diamond-Blackfan anemia def: "A pure red-cell aplasia that is characterized by anemia (low red blood cell counts) with decreased erythroid progenitors in the bone marrow and has_material_basis_insufficient levels of red blood cells due to bone marrow dysfunction. (DO)" [http://en.wikipedia.org/wiki/Diamond%E2%80%93Blackfan_anemia "DO", http://ghr.nlm.nih.gov/condition/diamond-blackfan-anemia "DO", http://www.cdc.gov/ncbddd/dba/ "DO", http://www.omim.org/entry/105650 "DO"] synonym: "Aase syndrome" EXACT [] synonym: "BDS" EXACT [] synonym: "Blackfan Diamond disease" EXACT [] synonym: "Blackfan Diamond syndrome" EXACT [] synonym: "chronic congenital agenerative anemia" EXACT [] synonym: "chronic congenital aregenerative anemia" EXACT [] synonym: "chronic constitutional pure red cell anaemia" EXACT [] synonym: "congenital erythroid hypoplastic anemia" EXACT [] synonym: "congenital hypoplastic anemia of Blackfan and Diamond" EXACT [] synonym: "congenital pure red cell anemia" EXACT [] synonym: "congenital pure red cell aplasia" EXACT [] synonym: "DBA" EXACT [] synonym: "Diamond-Blackfan type anemia" EXACT [] synonym: "erythrogenesis imperfecta" EXACT [] synonym: "erythrogenesis imperfectas" EXACT [] synonym: "inherited erythroblastopenia" EXACT [] synonym: "pure hereditary red cell aplasia" EXACT [] xref: EFO:0004130 xref: GARD:6274 xref: MESH:D029503 xref: MIM:PS105650 xref: MONDO:0015253 xref: NCI:C61236 xref: ORDO:124 is_a: DOID:1340 ! pure red-cell aplasia [Term] id: DOID:13399 name: color blindness def: "A blindness that is characterized by the inability or decreased ability to see color, or perceive color differences, under normal lighting conditions. (DO)" [http://en.wikipedia.org/wiki/Color_blindness "DO"] synonym: "color vision defect" EXACT [] synonym: "color vision defects" EXACT [] synonym: "color vision deficiency" EXACT [] synonym: "colour blindnes" EXACT [] synonym: "colour blindness" EXACT [] synonym: "colour vision deficiency" EXACT [] synonym: "green color blindness" EXACT [] synonym: "inherited color blindness" EXACT [] synonym: "monochromatopsia" EXACT [] xref: ICD10CM:H53.5 xref: ICD9CM:368.5 xref: MESH:D003117 xref: NCI:C3891 is_a: DOID:1432 ! blindness [Term] id: DOID:134 name: vaginal glandular tumor def: "A vaginal cancer that has_material_basis_in glandular tissue. (DO)" [https://www.mayoclinic.org/diseases-conditions/vaginal-cancer/symptoms-causes/syc-20352447 "DO"] xref: NCI:C40250 xref: RDO:9004606 is_a: DOID:119 ! vaginal cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:1340 name: pure red-cell aplasia def: "A congenital hypoplastic anemia that is characterized by a normocytic normochromic anemia with severe reticulocytopenia and marked reduction or absence of erythroid precursors from the bone marrow. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6142432/ "DO", MESH:D012010] synonym: "Erythrocyte Aplasia" EXACT [] synonym: "erythrocyte aplasias" EXACT [] synonym: "primary red cell aplasia" EXACT [] synonym: "pure red-cell aplasias" EXACT [] synonym: "red cell hypoplasia" EXACT [] xref: GARD:7504 xref: MESH:D012010 xref: MONDO:0001705 xref: NCI:C34974 is_a: DOID:1342 ! congenital hypoplastic anemia [Term] id: DOID:13401 name: angioid streaks alt_id: MIM:607140 def: "Small breaks in the elastin-filled tissue of the retina." [MESH:D000793] synonym: "Angioid Streak" EXACT [] xref: EFO:1000805 xref: MESH:D000793 is_a: DOID:5679 ! retinal disease [Term] id: DOID:13402 name: skin sarcoidosis synonym: "cutaneous sarcoid" EXACT [] synonym: "cutaneous sarcoidosis" EXACT [] xref: EFO:1000767 xref: ICD10CM:D86.3 xref: MONDO:0006611 xref: NCI:C34996 is_a: DOID:11335 ! sarcoidosis is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13403 name: neurosarcoidosis def: "A sarcoidosis that is characterized by involvement of the nervous symptom with cranial nerve palsy, diffuse meningeal disease, acute polyneuropathy, myelitis, or hypothalamic pituitary axis malformation, develops_from a type IV hypersensitivity reaction with noncaseating granulomas involving the nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3975794/ "DO"] synonym: "cerebral sarcoidosis" EXACT [] synonym: "nervous system sarcoidosis" EXACT [] xref: MESH:C535814 xref: NCI:C35441 is_a: DOID:11335 ! sarcoidosis is_a: DOID:331 ! central nervous system disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13404 name: uveoparotid fever def: "A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4739221/ "DO"] synonym: "Heerfordt's syndrome" EXACT [] synonym: "Heerfordt syndrome" EXACT [] synonym: "uveoparotid fevers" EXACT [] synonym: "uveoparotitides" EXACT [] synonym: "uveoparotitis" EXACT [] xref: EFO:1001232 xref: ICD10CM:D86.89 xref: MESH:D014608 is_a: DOID:11335 ! sarcoidosis [Term] id: DOID:13405 name: cardiac sarcoidosis def: "A sarcoidosis that is characterized by conduction abnormalities, arrhythmias, and congestive heart failure with noncaseating granulomas present on endomyocardial biopsy, and develops_from a type IV hypersensitivity reaction with noncaseating granulomas infiltrating the myocardial tissue, especially that of the left ventricle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4731586/ "DO"] xref: NCI:C35589 is_a: DOID:11335 ! sarcoidosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13406 name: pulmonary sarcoidosis def: "A sarcoidosis that is characterized by noncaseating granulomatous infiltration of the lungs and supporting lymph nodes, bilateral hilar adenopathy, and pulmonary issues, has_symptom shortness of breath, fatigue, wheezing, and chronic cough, and develops_from a type IV hypersensitivity reaction. (DO)" [https://www.atsjournals.org/doi/full/10.1164/rccm.201006-0865CI "DO"] synonym: "lung sarcoidosis" EXACT [] synonym: "pulmonary sarcoidoses" EXACT [] xref: ICD10CM:D86.0 xref: MESH:D017565 xref: NCI:C34997 is_a: DOID:11335 ! sarcoidosis is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:13407 name: hypercalcemic sarcoidosis xref: MONDO:0001709 xref: NCI:C35807 is_a: DOID:11335 ! sarcoidosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13409 name: perforation of bile duct synonym: "bile duct perforation" EXACT [] xref: ICD10CM:K83.2 xref: ICD9CM:576.3 xref: NCI:C143742 xref: NCI:C78528 is_a: DOID:4138 ! bile duct disease is_a: DOID:9741 ! biliary tract disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13413 name: hepatic encephalopathy def: "A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. (DO)" [https://en.wikipedia.org/wiki/Hepatic_encephalopathy "DO"] synonym: "Fulminant Hepatic Failure with Cerebral Edema" EXACT [] synonym: "hepatic encephalopathies" EXACT [] synonym: "Hepatic Stupor" EXACT [] synonym: "Hepatic Stupors" EXACT [] synonym: "Hepatocerebral Encephalopathies" EXACT [] synonym: "Hepatocerebral Encephalopathy" EXACT [] synonym: "Portal-Systemic Encephalopathies" EXACT [] synonym: "Portal Systemic Encephalopathy" EXACT [] synonym: "Portosystemic Encephalopathies" EXACT [] synonym: "portosystemic encephalopathy" EXACT [] xref: GARD:10452 xref: ICD10CM:K72 xref: ICD10CM:K76.82 xref: ICD9CM:572.2 xref: MESH:D006501 xref: NCI:C79596 is_a: DOID:225 ! syndrome is_a: DOID:9005627 ! Metabolic Brain Diseases is_a: DOID:9007874 ! Liver Failure is_a: DOID:936 ! brain disease [Term] id: DOID:13417 name: alexia def: "An agnosia that is a loss of the ability to recognize text. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO", http://en.wikipedia.org/wiki/Alexia_%28disorder%29 "DO"] synonym: "acquired alexia" EXACT [] synonym: "acquired dyslexia" EXACT [] synonym: "acquired global dyslexia" EXACT [] synonym: "acquired reading disabilities" EXACT [] synonym: "Acquired Reading Disability" EXACT [] synonym: "acquired spelling dyslexia" EXACT [] synonym: "acquired word blindness" EXACT [] synonym: "aphemesthaesia" EXACT [] xref: ICD9CM:315.01 xref: MESH:D004411 is_a: DOID:1561 ! cognitive disorder is_a: DOID:4090 ! agnosia is_a: DOID:4428 ! dyslexia created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13419 name: neurogenic bowel def: "Loss or absence of normal intestinal function due to nerve damage or birth defects. It is characterized by the inability to control the elimination of stool from the body." [MESH:D055496] synonym: "Neurogenic Bowels" EXACT [] xref: EFO:1001061 xref: ICD9CM:564.81 xref: MESH:D055496 is_a: DOID:3877 ! functional colonic disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:1342 name: congenital hypoplastic anemia def: "An aplastic anemia that is characterized by insufficient production of red blood cells, usually seen in the first year of life. (DO)" [https://en.wikipedia.org/wiki/Congenital_hypoplastic_anemia "DO", MESH:D029502] synonym: "congenital aplastic anaemia" EXACT [] synonym: "congenital aplastic anemia" EXACT [] synonym: "congenital hypoplastic anaemia" EXACT [] synonym: "congenital hypoplastic anemias" EXACT [] synonym: "constitutional aplastic anaemia" RELATED [] xref: ICD10CM:D61.0 xref: ICD10CM:D61.01 xref: ICD9CM:284.0 xref: MESH:D029502 is_a: DOID:0080015 ! physical disorder is_a: DOID:12449 ! aplastic anemia [Term] id: DOID:1343 name: urethritis def: "Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both." [MESH:D014526] synonym: "non-gonococcal urethritis" EXACT [] synonym: "nongonococcal urethritis" EXACT [] synonym: "urethritides" EXACT [] xref: EFO:0003878 xref: ICD10CM:N34.2 xref: ICD9CM:597.80 xref: MESH:D014526 xref: NCI:C26904 is_a: DOID:732 ! urethral disease [Term] id: DOID:13431 name: bejel def: "A primary bacterial infectious disease that results in infection located in mucosa of mouth, located in skin or located in bone, has_material_basis_in Treponema pallidum subsp endemicum, which is transmitted by contact or transmitted by sharing of domestic utensils. The infection has symptom moist patches in the mouth, has symptom lumps in long bones, tissues around the mouth, nose, and roof of the mouth. These lumps destroy tissue, causing bones to be deformed and disfiguring the face. (DO)" [http://en.wikipedia.org/wiki/Bejel "DO", http://www.merckmanuals.com/home/sec17/ch190/ch190d.html "DO"] synonym: "dichuchwa" EXACT [] synonym: "frenga" EXACT [] synonym: "njovera" EXACT [] synonym: "nonvenereal endemic syphilis" EXACT [] synonym: "nonvenereal syphilis" EXACT [] xref: GARD:5905 xref: MESH:C538405 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:0080001 ! bone disease is_a: DOID:3488 ! cellulitis is_a: DOID:403 ! mouth disease is_a: DOID:9000746 ! Treponemal Infections [Term] id: DOID:13444 name: glanders def: "A primary bacterial infectious disease that results in septicemic infection, has_material_basis_in Burkholderia mallei, which is transmitted by contact with tissues or body fluids of infected animals, or through mucosal surfaces such as the eyes and nose. The infection has symptom fever, has symptom chills, has symptom sweating, has symptom muscle aches, has symptom chest pain, has symptom muscle tightness, has symptom headache, has symptom mucopurulent nasal discharge, and has symptom nodular lesions in the lungs. (DO)" [http://www.cdc.gov/nczved/divisions/dfbmd/diseases/glanders/ "DO"] synonym: "Farcy pipes" EXACT [SNOMEDCT_2005_07_31:35322000] synonym: "infection due to Pseudomonas mallei" EXACT [] xref: EFO:0007286 xref: GARD:9536 xref: ICD10CM:A24.0 xref: ICD9CM:024 xref: MESH:D005896 xref: NCI:C34638 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9000739 ! Burkholderia Infections is_a: DOID:9001187 ! Horse Diseases [Term] id: DOID:13446 name: basilar artery occlusion xref: ICD10CM:I65.1 xref: ICD9CM:433.0 is_a: DOID:0050828 ! artery disease is_a: DOID:5976 ! occlusion precerebral artery created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:13447 name: corneal argyrosis synonym: "argentous corneal deposits" EXACT [] synonym: "argyrosis of cornea" EXACT [] xref: ICD10CM:H18.02 xref: ICD9CM:371.16 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13448 name: posterior corneal pigmentation synonym: "Posterior corneal pigmentations" EXACT [ICD9CM_2006:371.13] xref: ICD10CM:H18.05 xref: ICD9CM:371.13 xref: RDO:9003425 is_a: DOID:11547 ! corneal deposit created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13450 name: coccidioidomycosis def: "A primary systemic mycosis that results_in systemic fungal infection, has_material_basis_in Coccidioides immitis, transmitted_by airborne spores and has_symptom conjunctivitis, has_symptom arthritis, has_symptom chest pain and results_in_formation_of skin nodules. (DO)" [http://www.merck.com/mmhe/sec17/ch197/ch197e.html "DO"] synonym: "Coccidioides immitis Infection" EXACT [] synonym: "Coccidioides immitis infections" EXACT [] synonym: "Coccidioidomycoses" EXACT [] synonym: "primary extrapulmonary coccidioidomycosis" EXACT [] synonym: "San Joaquin Valley Fever" EXACT [] synonym: "Valley Fever" EXACT [] synonym: "valley fevers" EXACT [] xref: EFO:0007211 xref: GARD:9525 xref: ICD10CM:B38 xref: ICD9CM:114 xref: MESH:D003047 xref: NCI:C84642 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:13452 name: scleritis def: "Refers to any inflammation of the sclera including episcleritis, a benign condition affecting only the episclera, which is generally short-lived and easily treated. Classic scleritis, on the other hand, affects deeper tissue and is characterized by higher rates of visual acuity loss and even mortality, particularly in necrotizing form. Its characteristic symptom is severe and general head pain. Scleritis has also been associated with systemic collagen disease. Etiology is unknown but is thought to involve a local immune response. Treatment is difficult and includes administration of anti-inflammatory and immunosuppressive agents such as corticosteroids. Inflammation of the sclera may also be secondary to inflammation of adjacent tissues, such as the conjunctiva." [MESH:D015423] synonym: "Episcleritides" EXACT [] synonym: "Episcleritis" EXACT [] synonym: "Necrotizing Scleritides" EXACT [] synonym: "Necrotizing Scleritis" EXACT [] synonym: "Scleritides" EXACT [] xref: GARD:12911 xref: ICD10CM:H15.0 xref: ICD9CM:379.00 xref: MESH:D015423 xref: NCI:C119046 xref: RDO:0006864 is_a: DOID:11343 ! scleral disease [Term] id: DOID:13453 name: gonococcal bursitis xref: ICD10CM:A54.49 xref: ICD9CM:098.52 is_a: DOID:2965 ! bursitis is_a: DOID:9008538 ! Neisseriaceae Infections created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13454 name: gonococcal synovitis synonym: "gonococcal synovitis and tenosynovitis" EXACT [] synonym: "gonococcal synovitis or tenosynovitis" EXACT [] xref: ICD9CM:098.51 is_a: DOID:2703 ! synovitis is_a: DOID:9008538 ! Neisseriaceae Infections created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13461 name: urethral intrinsic sphincter deficiency synonym: "intrinsic (urethral) sphincter deficiency [ISD]" EXACT [] xref: ICD10CM:N36.42 xref: ICD9CM:599.82 is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:13473 name: central pterygium def: "A progressive peripheral pterygium that is characterized by progressive fleshy outpouching of conjunctival growth that has grown to involve the visual axis and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Central pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Central pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO"] xref: ICD10CM:H11.02 xref: ICD9CM:372.43 is_a: DOID:13474 ! progressive peripheral pterygium created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13474 name: progressive peripheral pterygium def: "A conjunctival pterygium that is characterized by progressive (as opposed to quiescent) fleshy outpouching of conjunctival growth and has_symptom fleshy bumps on the surface of the eye, foreign body sensation, decreased vision, and astigmatism. Progressive peripheral pterygiums are more common in people prone to ocular surface injury, such as those living in sunny, hot, and dry climates. Progressive peripheral pterygiums progress from pinguecula. (DO)" [https://www.merckmanuals.com/professional/eye-disorders/conjunctival-and-scleral-disorders/pinguecula-and-pterygium "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5340105/ "DO"] xref: ICD9CM:372.42 is_a: DOID:10526 ! conjunctival pterygium created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13476 name: supraglottis cancer synonym: "Ca larynx - supraglottis" EXACT [] synonym: "malignant neoplasm of extrinsic larynx" EXACT [MTHICD9_2006:161.1] synonym: "malignant neoplasm of supraglottis" EXACT [] synonym: "malignant Supraglottic tumor" EXACT [NCI2004_11_17:C3545] synonym: "malignant tumor of supraglottis" EXACT [SNOMEDCT_2005_07_31:187842004] synonym: "supraglottis" EXACT [NCI2004_11_17:C12279] xref: ICD10CM:C32.1 xref: ICD9CM:161.1 xref: NCI:C3545 is_a: DOID:2596 ! larynx cancer [Term] id: DOID:13477 name: balanitis xerotica obliterans def: "A balantitis characterized by white plaques or patches on genitals. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24295833 "DO"] synonym: "Kraurosis Penis" EXACT [] synonym: "penile lichen sclerosus" EXACT [] xref: ICD9CM:607.81 xref: MESH:D052798 xref: NCI:C3523 is_a: DOID:13033 ! balanitis [Term] id: DOID:13481 name: thanatophoric dysplasia def: "An osteochondrodysplasia that results_in short arms and legs with excess folds of skin. (DO)" [http://en.wikipedia.org/wiki/Thanatophoric_dysplasia "DO", http://ghr.nlm.nih.gov/condition/thanatophoric-dysplasia "DO"] synonym: "Thanatophoric Dwarfism" EXACT [] synonym: "Thanatophoric Dwarfisms" EXACT [] synonym: "thanatophoric dysplasias" EXACT [] synonym: "thanatophoric short stature" EXACT [] xref: GARD:85 xref: ICD10CM:Q77.1 xref: MESH:D013796 xref: NCI:C85187 xref: ORDO:1860 xref: ORDO:2655 xref: ORDO:93274 xref: ORDO:93275 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:4480 ! achondroplasia is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:13482 name: Proteus syndrome alt_id: MIM:176920 def: "A PTEN hamartoma tumor syndrome that is characterized by overgrowth of the bones, skin, and other tissues. (DO)" [https://ghr.nlm.nih.gov/condition/proteus-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK99495/ "DO"] synonym: "ELATTOPROTEUS SYNDROME" NARROW [] synonym: "Elephant Man Disease" EXACT [] synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, and macrocephaly" EXACT [] synonym: "Proteus like syndrome" EXACT [] synonym: "Wiedemann's syndrome" EXACT [] xref: GARD:7475 xref: MESH:D016715 xref: NCI:C85032 xref: ORDO:744 is_a: DOID:0080006 ! bone development disease is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:13487 name: childhood disintegrative disease def: "A pervasive developmental disorder that is a rare condition characterized by late onset (greater than 3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. (DO)" [http://en.wikipedia.org/wiki/Heller%27s_syndrome "DO", http://www.patient.co.uk/doctor/Heller%27s-Syndrome.htm "DO"] synonym: "disintegrative psychosis" EXACT [] synonym: "Heller's syndrome" EXACT [] synonym: "symbiotic psychosis" EXACT [] xref: GARD:6040 xref: ICD10CM:F84.3 xref: ICD9CM:299.1 xref: NCI:C97164 is_a: DOID:0060040 ! pervasive developmental disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13490 name: active cochleovestibular Meniere's disease synonym: "active cochleovestibular Meniere disease" EXACT [] synonym: "cochleovestibular active Mnire's disease" EXACT [] xref: ICD9CM:386.01 is_a: DOID:9849 ! Meniere's disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13491 name: active vestibular Meniere's disease synonym: "active vestibular Meniere disease" EXACT [] synonym: "vestibular active Mnire's disease" EXACT [] xref: ICD9CM:386.03 is_a: DOID:9849 ! Meniere's disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13492 name: active cochlear Meniere's disease synonym: "active cochlear Meniere disease" EXACT [] synonym: "cochlear active Mnire's disease" EXACT [] xref: ICD9CM:386.02 is_a: DOID:9849 ! Meniere's disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:13498 name: urethral syndrome xref: ICD10CM:N34.3 xref: ICD9CM:597.81 is_a: DOID:225 ! syndrome is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:13499 name: jejunal cancer synonym: "cancer of jejunum" EXACT [] synonym: "cancer of the jejunum" EXACT [] synonym: "EFO:1000998" EXACT [] synonym: "jejunal cancers" EXACT [] synonym: "jejunum cancer" EXACT [] synonym: "jejunum cancers" EXACT [] synonym: "malignant neoplasm of jejunum" EXACT [] synonym: "malignant tumor of jejunum" EXACT [] xref: EFO:1000998 xref: ICD10CM:C17.1 xref: ICD9CM:152.1 xref: NCI:C170919 is_a: DOID:10154 ! small intestine cancer is_a: DOID:3218 ! jejunal neoplasm [Term] id: DOID:135 name: benign vaginal carcinosarcoma def: "A vaginal benign neoplasm that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)" [https://www.glowm.com/section-view/heading/Benign%20Neoplasms%20of%20the%20Vagina/item/5 "DO"] xref: NCI:C40275 is_a: DOID:0060114 ! vaginal benign neoplasm [Term] id: DOID:1350 name: paranasal sinus benign neoplasm synonym: "EFO:0003866" EXACT [] synonym: "Paranasal Sinus Papilloma" NARROW [] synonym: "Paranasal Sinus Schneiderian Papilloma" NARROW [] xref: EFO:0003866 xref: EFO:1000455 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:9000118 ! Paranasal Sinus Neoplasms [Term] id: DOID:13500 name: hairy tongue def: "A benign condition of the tongue characterized by hypertrophy of the filiform papillae that give the dorsum of the tongue a furry appearance. The color of the elongated papillae varies from yellowish white to brown or black, depending upon staining by substances such as tobacco, food, or drugs. (Dorland, 27th ed)" [MESH:D014064] synonym: "hairy tongues" EXACT [] synonym: "overgrowth of filiform papillae" EXACT [] xref: EFO:1000957 xref: MESH:D014064 xref: NCI:C35075 is_a: DOID:10944 ! tongue disease [Term] id: DOID:13501 name: Moebius syndrome alt_id: MESH:C535807 alt_id: MIM:157900 def: "A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s). (DO)" [https://pubmed.ncbi.nlm.nih.gov/33474647/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC4082742/ "DO"] synonym: "congenital ophthalmoplegia and facial paresis" EXACT [] synonym: "MBS" EXACT [] synonym: "Mobius syndrome" EXACT [] synonym: "Mobius syndromes" EXACT [] synonym: "Moebius Congenital Oculofacial Paralysis" EXACT [] synonym: "Moebius Sequence" EXACT [] synonym: "Moebius spectrum" EXACT [] synonym: "Moebius syndrome 1" EXACT [] synonym: "Moebius syndromes" EXACT [] synonym: "Möbius sequence" EXACT [] synonym: "oromandibular-limb hypogenesis spectrum" EXACT [] xref: EFO:1001046 xref: GARD:8549 xref: MESH:D020331 xref: MONDO:0008006 xref: NCI:C84893 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1756 ! facial nerve disease is_a: DOID:225 ! syndrome is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:13507 name: trigonitis xref: ICD10CM:N30.3 xref: ICD9CM:595.3 xref: NCI:C123175 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:13514 name: venous tributary occlusion of retina def: "An obstruction occurring within any of the branches of the central retinal vein." [] synonym: "Branch retinal occlusion" EXACT [] synonym: "Branch Retinal Vein Occlusion" EXACT [] synonym: "Branch retinal vein thrombosis" EXACT [] synonym: "BRVO" EXACT [] synonym: "BRVT" EXACT [] synonym: "BVO" EXACT [] synonym: "Venous retinal branch occlusion" EXACT [] synonym: "Venous retinal tributary occlusion" EXACT [] synonym: "venous tributary branch occlusion of retina" EXACT [] xref: ICD9CM:362.36 xref: RDO:9000120 is_a: DOID:1727 ! retinal vein occlusion is_a: DOID:1729 ! retinal vascular occlusion [Term] id: DOID:13515 name: tuberous sclerosis def: "A syndrome that is characterized by the growth of numerous noncancerous tumors in many parts of the body. (DO)" [https://ghr.nlm.nih.gov/condition/tuberous-sclerosis-complex#synonyms "DO"] synonym: "adenoma sebaceum" EXACT [] synonym: "Bourneville's Disease" EXACT [] synonym: "Bourneville's Syndrome" EXACT [] synonym: "Bourneville disease" EXACT [] synonym: "Bourneville phacomatosis" EXACT [] synonym: "Bourneville Phakomatosis" EXACT [] synonym: "Bourneville Pringle's Disease" EXACT [] synonym: "Bourneville Pringle Disease" EXACT [] synonym: "Bourneville-Pringles Disease" EXACT [] synonym: "Bourneville Syndrome" EXACT [] synonym: "cerebral scleroses" EXACT [] synonym: "Cerebral Sclerosis" EXACT [] synonym: "CORTICAL TUBERS" NARROW [] synonym: "Epiloia" EXACT [] synonym: "sclerosis tuberosa" EXACT [] synonym: "TS" EXACT [] synonym: "TSC" EXACT [] synonym: "tuberose sclerosis" EXACT [] synonym: "tuberous sclerosis complex" EXACT [] synonym: "tuberous sclerosis syndrome" EXACT [] xref: GARD:7830 xref: ICD10CM:Q85.1 xref: ICD9CM:759.5 xref: MESH:D014402 xref: MIM:PS191100 xref: NCI:C3424 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001030 ! Multiple Primary Neoplasms is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9005611 ! Malformations of Cortical Development, Group I is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9007253 ! Hamartoma [Term] id: DOID:1352 name: paranasal sinus disease alt_id: RDO:0006284 def: "Diseases affecting or involving the PARANASAL SINUSES and generally manifesting as inflammation, abscesses, cysts, or tumors." [MESH:D010254] synonym: "disorder of nasal sinus" EXACT [] synonym: "paranasal sinus diseases" EXACT [] xref: EFO:0009481 xref: MESH:D010254 xref: NCI:C26843 is_a: DOID:2825 ! nose disease [Term] id: DOID:13520 name: neonatal infective mastitis xref: ICD10CM:P39.0 xref: ICD9CM:771.5 is_a: DOID:10690 ! mastitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13521 name: tetanus neonatorum def: "A tetanus that occurs in newborn babies when the birth cord stump gets dirty through cutting it with an unclean blade or applying substances containing bacteria to it. The infection has symptom stiff body, has symptom muscle spasms, has symptom difficulty in breathing, and has symptom exhaustion. (DO)" [https://en.wikipedia.org/wiki/Neonatal_tetanus "DO"] synonym: "neonatal tetanus" EXACT [] xref: ICD10CM:A33 xref: ICD9CM:771.3 xref: NCI:C116814 is_a: DOID:11338 ! tetanus [Term] id: DOID:13523 name: loiasis def: "A filariasis that involves parasitic infection of the skin and eyes caused by the nematode Loa loa, which is transmitted through the bite of a deer fly or mango fly. The disease is characterized by episodic angioedema in the arms and legs, and cyst-like enlargements of the connective tissue around the sheaths of muscle tendons. Dead worms may cause chronic abscesses, which may lead to the formation of granulomatous reactions and fibrosis. (DO)" [http://en.wikipedia.org/wiki/Loiasis "DO"] synonym: "loaiases" EXACT [] synonym: "loaiasis" EXACT [] synonym: "loiases" EXACT [] xref: EFO:1000729 xref: GARD:3283 xref: ICD10CM:B74.3 xref: ICD9CM:125.2 xref: MESH:D008118 xref: NCI:C34784 is_a: DOID:1080 ! filariasis is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease [Term] id: DOID:13533 name: osteopetrosis def: "An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. (DO)" [http://en.wikipedia.org/wiki/Osteopetrosis "DO"] synonym: "Albers Schoenberg disease" EXACT [] synonym: "Albers Schonberg Disease" EXACT [] synonym: "Albers Schonberg disease, autosomal dominant" NARROW [] synonym: "Albers Schönberg disease" EXACT [] synonym: "Congenital Osteopetrosis" EXACT [] synonym: "High Bone Mass" RELATED [] synonym: "INFANTILE OSTEOPETROSIS" NARROW [] synonym: "marble bone" EXACT [] synonym: "Marble Bone Disease" EXACT [] synonym: "Marble Bones, Autosomal Dominant" EXACT [] synonym: "osteopetroses" EXACT [] synonym: "osteosclerosis fragilis" EXACT [] synonym: "osteosclerosis fragilis generalisata" EXACT [] xref: GARD:4155 xref: ICD10CM:Q78.2 xref: ICD9CM:756.52 xref: MESH:D010022 xref: MIM:PS259700 xref: MIM:PS607634 xref: NCI:C26840 xref: ORDO:667 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:13534 name: purulent labyrinthitis def: "A labyrinthitis which is a bacterial infectious disease of the inner ear, often causing deafness and loss of vestibular function. This is caused when bacteria spread to the inner ear during the course of severe acute otitis media, purulent meningitis, or an enlarging cholesteatoma. (DO)" [http://www.merck.com/mmpe/sec08/ch086/ch086g.html?qt=irritation%20and%20swelling%20of%20the%20inner%20ear.&alt=sh "DO"] synonym: "acute suppurative labyrinthitis" RELATED [] synonym: "bacterial labyrinthitis" EXACT [] synonym: "suppurative labyrinthitis" EXACT [] xref: ICD9CM:386.33 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:1468 ! labyrinthitis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13538 name: cornea squamous cell carcinoma synonym: "corneal epidermoid carcinoma" EXACT [] synonym: "squamous cell carcinoma of cornea" EXACT [] xref: NCI:C4552 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:6199 ! cornea cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:13543 name: hyperparathyroidism def: "A parathyroid gland disease characterized by an overactivity of the parathyroid glands, leading to an excess of parathyroid hormone in the body. (DO)" [http://en.wikipedia.org/wiki/Hyperparathyroidism "DO", http://ghr.nlm.nih.gov/glossary=hyperparathyroidism "DO"] xref: EFO:0008506 xref: ICD10CM:E21.3 xref: ICD9CM:252.0 xref: MESH:D006961 xref: MIM:PS145000 xref: NCI:C48259 xref: ORDO:99879 is_a: DOID:11201 ! parathyroid gland disease [Term] id: DOID:13544 name: low tension glaucoma def: "An open-angle glaucoma characterized by increased intrinsic resistance to aqueous outflow without known secondary causes, an anatomically narrow anterior chamber angle, or elevated intraocular pressure compared to the average population. Normal tension glaucoma has_symptom progressive decreased vision and progressive loss of peripheral vision. (DO)" [https://eyewiki.aao.org/Primary_Open-Angle_Glaucoma "DO"] synonym: "low tension glaucomas" EXACT [] xref: EFO:1001022 xref: ICD10CM:H40.12 xref: ICD9CM:365.12 xref: MESH:D057066 is_a: DOID:1067 ! open-angle glaucoma is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:13548 name: secondary Parkinson disease def: "Conditions which feature clinical manifestations resembling primary Parkinson's disease that are caused by a known or suspected condition. Examples include parkinsonism caused by vascular injury, drugs, trauma, toxin exposure, neoplasms, infections and degenerative or hereditary conditions. Clinical features may include bradykinesia, rigidity, parkinsonian gait, and masked facies. In general, tremor is less prominent in secondary parkinsonism than in the primary form. (From Joynt, Clinical Neurology, 1998, Ch38, pp39-42)" [MESH:D010302] synonym: "atherosclerotic parkinsonism" EXACT [] synonym: "disorder presenting primarily with parkinsonism" EXACT [] synonym: "secondary Parkinson's disease" EXACT [] synonym: "secondary parkinsonism" EXACT [] synonym: "Secondary Vascular Parkinson's Disease" EXACT [] synonym: "Secondary Vascular Parkinson Disease" EXACT [] synonym: "symptomatic Parkinson's disease" EXACT [] synonym: "Symptomatic Parkinson Disease" EXACT [] synonym: "symptomatic parkinsonism" EXACT [] xref: EFO:1001175 xref: ICD10CM:G21 xref: ICD9CM:332.1 xref: MESH:D010302 xref: NCI:C34899 is_a: DOID:0080855 ! Parkinsonism is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:13549 name: interval angle-closure glaucoma def: "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening optic nerve damage and visual field loss; but that typically resolves spontaneously after several hours, even though it may recur. Interval angle-closure glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights that resolves spontaneously. Interval angle-closure glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO", https://www.merckmanuals.com/professional/eye-disorders/glaucoma/angle-closure-glaucoma "DO"] synonym: "intermittent angle-closure glaucoma" EXACT [] synonym: "prodromal angle closure glaucoma" EXACT [] synonym: "subacute angle-closure glaucoma" EXACT [] xref: ICD10CM:H40.23 xref: ICD9CM:365.21 is_a: DOID:1405 ! primary angle-closure glaucoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1355 name: paranasal sinus lymphoma synonym: "lymphoma of accessory sinus" EXACT [] synonym: "lymphoma of paranasal sinus" EXACT [] xref: NCI:C6068 xref: RDO:9004779 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:0060058 ! lymphoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13550 name: angle-closure glaucoma def: "A glaucoma characterized by closure of the anterior chamber angle such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Angle closure glaucoma can be caused by anatomically narrow angle, injury to the trabecular meshwork, and injuries to the anterior chamber, such as neovascularization and uveitis. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO"] synonym: "ACG - angle-closure glaucoma" EXACT [] synonym: "angle closure glaucomas" EXACT [] synonym: "Closed-Angle Glaucoma" EXACT [] synonym: "closed-angle glaucomas" EXACT [] synonym: "Narrow-Angle Glaucoma" EXACT [] synonym: "Narrow-Angle Glaucomas" EXACT [] synonym: "narrow cleft glaucoma" EXACT [] synonym: "PCAG" RELATED [] synonym: "Primary Closed Angle Glaucoma" RELATED [] synonym: "primary open-angle glaucoma with narrow angles" EXACT [] synonym: "Uncompensated Glaucoma" EXACT [] synonym: "Uncompensated Glaucomas" EXACT [] synonym: "uncompensative glaucoma" EXACT [] synonym: "uncompensative glaucomas" EXACT [] xref: MESH:D015812 xref: NCI:C34639 is_a: DOID:1686 ! glaucoma [Term] id: DOID:13560 name: subserous uterine fibroid def: "An uterine fibroid that is located adjacent to the outside of the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22583728 "DO"] synonym: "subserous leiomyoma of uterus" EXACT [] xref: ICD10CM:D25.2 xref: ICD9CM:218.2 is_a: DOID:13223 ! uterine fibroid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13561 name: optic disk drusen def: "Optic disk bodies composed primarily of acid mucopolysaccharides that may produce pseudopapilledema (elevation of the optic disk without associated INTRACRANIAL HYPERTENSION) and visual field deficits. Drusen may also occur in the retina (see RETINAL DRUSEN). (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p355)" [MESH:D015594] synonym: "Drusen of optic disc" EXACT [ICD9CM_2006:377.21] synonym: "Optic Disc Drusen" EXACT [] synonym: "Optic Disc Drusens" EXACT [] synonym: "Optic Disk Drusens" EXACT [] synonym: "Optic Nerve Drusen" EXACT [] synonym: "optic nerve head drusen" EXACT [SNOMEDCT_2005_07_31:33629003] xref: ICD10CM:H47.32 xref: ICD9CM:377.21 xref: MESH:D015594 xref: RDO:0006905 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:13564 name: aspergillosis alt_id: MIM:614079 def: "An opportunistic mycosis that involves a spectrum of diseases of humans and animals caused by members of the genus Aspergillus infecting lungs, brain, kidney, heart, bone, eyes, sinuses, skin and gastrointestinal tract. It is a serious illnesses in people with a weakened immune system. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Opportunistic/Aspergillosis/ "DO", http://www.mayoclinic.com/print/aspergillosis/DS00950/METHOD=print&DSECTION=all "DO"] synonym: "Aspergilloses" EXACT [] synonym: "ASPERGILLOSIS, SUSCEPTIBILITY TO" RELATED [] synonym: "infection due to Aspergillus" EXACT [] xref: EFO:0007157 xref: GARD:5856 xref: ICD10CM:B44 xref: ICD9CM:117.3 xref: MESH:D001228 xref: NCI:C2886 is_a: DOID:1205 ! allergic disease is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:9005724 ! Fungal Lung Diseases is_a: DOID:9007316 ! Hyalohyphomycosis [Term] id: DOID:13565 name: neuroaspergillosis def: "An aspergillosis that involves fungal infection of the central nervous system in immunocompromised patients caused by Aspergillus, presenting as a space-occupying lesion. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aspergillosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/17377359 "DO"] synonym: "nervous system invasive aspergillosis" EXACT [] synonym: "neuroaspergilloses" EXACT [] xref: EFO:0007393 xref: MESH:D020953 is_a: DOID:13564 ! aspergillosis is_a: DOID:9001177 ! Central Nervous System Fungal Infections is_a: DOID:9006058 ! Invasive Fungal Infections [Term] id: DOID:13566 name: tibial collateral ligament bursitis xref: ICD9CM:726.62 is_a: DOID:204 ! enthesopathy created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:1357 name: maxillary sinus cancer def: "malignant tumor of the maxillary sinus" [] synonym: "cancer of maxillary sinus" EXACT [] synonym: "malignant neoplasm of antrum" EXACT [] synonym: "malignant tumor of the maxillary sinus" EXACT [] xref: ICD10CM:C31.0 xref: ICD9CM:160.2 xref: NCI:C3540 xref: NCI:C9332 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:9001615 ! Maxillary Sinus Neoplasms [Term] id: DOID:13574 name: cortical senile cataract def: "A senile cataract that is characterized by opacification of the lens cortex, caused by dehydration of lens fibers, and is related to aging. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"] xref: ICD9CM:366.15 is_a: DOID:9669 ! senile cataract created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13575 name: non-renal secondary hyperparathyroidism xref: ICD9CM:252.02 is_a: DOID:12466 ! secondary hyperparathyroidism created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13576 name: twin-to-twin transfusion syndrome def: "A neonatal anemia that is characterized by an increased number of arteriovenous anastomoses deep in the placenta. These capillary connections occur in the cotyledon portion of the placenta. Unidirectional flow can occur in these arteriovenous anastomoses and result in shunting of blood towards one twin and away from the other when the arteriovenous anastomoses are unbalanced. (DO)" [https://www.nationwidechildrens.org/conditions/twin-to-twin-transfusion-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK563133/ "DO", MESH:D005330] synonym: "Fetal blood loss from fetal hemorrhage into co-twin" EXACT [MTHICD9_2006:772.0] synonym: "Fetal hemorrhage into co-twin" EXACT [SNOMEDCT_2005_07_31:56268004] synonym: "fetal transfusion syndrome" EXACT [] synonym: "Fetal Transfusion Syndromes" EXACT [] synonym: "fetofetal transfusion" EXACT [] synonym: "Fetofetal Transfusions" EXACT [] synonym: "Fetofetal Transfusion Syndrome" EXACT [] synonym: "Fetofetal Transfusion Syndromes" EXACT [] synonym: "Intrauterine Cross Transfusion" EXACT [] synonym: "Intrauterine Cross-Transfusions" EXACT [] synonym: "twin-to-twin blood transfer" EXACT [] synonym: "twin to twin transfusion" EXACT [] synonym: "Twin-to-Twin Transfusion Syndromes" EXACT [] synonym: "Twin Transfusion" EXACT [] synonym: "twin transfusions" EXACT [] synonym: "twin transfusion syndrome" EXACT [] synonym: "twin transfusion syndromes" EXACT [] synonym: "twin twin transfusion syndrome" EXACT [] xref: EFO:1001221 xref: ICD10CM:O43.02 xref: ICD10CM:O43.029 xref: MESH:D005330 xref: MONDO:0019805 xref: NCI:C113824 is_a: DOID:11244 ! neonatal anemia [Term] id: DOID:13579 name: kwashiorkor def: "A protein-energy malnutrition that is characterized by severe lack of protein and edema or anasarca, has_symptom swelling, gastrointestinal upset, dehydration, thin dry skin, and cough, and has_material_basis_in severe deficit of protein, resulting in lack of albumin causing decreased oncotic pressure in the vasculature and increased activation of the renin-angiotensin axis and antidiuretic hormone. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK507876/ "DO"] synonym: "Kwashiokor" EXACT [] synonym: "Kwashiorkors" EXACT [] synonym: "nutritional edema with dyspigmentation of skin and hair" EXACT [] synonym: "nutritional oedema with dyspigmentation of skin and/or hair" EXACT [] xref: EFO:1001009 xref: ICD10CM:E40 xref: ICD9CM:260 xref: MESH:D007732 is_a: DOID:11801 ! protein-energy malnutrition is_a: DOID:225 ! syndrome is_a: DOID:9004851 ! Severe Acute Malnutrition [Term] id: DOID:1358 name: maxillary sinus benign neoplasm synonym: "EFO:1001035" EXACT [] xref: EFO:1001035 is_a: DOID:1350 ! paranasal sinus benign neoplasm is_a: DOID:9001615 ! Maxillary Sinus Neoplasms [Term] id: DOID:13580 name: cholestasis def: "A bile duct disease that is characterized by where bile cannot flow from the liver to the duodenum. (DO)" [https://en.wikipedia.org/wiki/Cholestasis "DO"] synonym: "bile duct obstruction" EXACT [] synonym: "bile duct obstructions" EXACT [] synonym: "bile occlusion" EXACT [] synonym: "Biliary Stases" EXACT [] synonym: "biliary stasis" EXACT [] synonym: "cholestases" EXACT [] synonym: "obstruction of bile duct" EXACT [] xref: ICD10CM:K83.1 xref: ICD9CM:576.2 xref: MESH:D002779 xref: NCI:C83006 is_a: DOID:4138 ! bile duct disease [Term] id: DOID:13585 name: alveolar periostitis def: "A condition sometimes occurring after tooth extraction, particularly after traumatic extraction, resulting in a dry appearance of the exposed bone in the socket, due to disintegration or loss of the blood clot. It is basically a focal osteomyelitis without suppuration and is accompanied by severe pain (alveolalgia) and foul odor. (Dorland, 28th ed)" [MESH:D004368] synonym: "Alveolalgia" EXACT [] synonym: "Alveolalgias" EXACT [] synonym: "Alveolar Osteitides" EXACT [] synonym: "Alveolar Osteitis" EXACT [] synonym: "Alveolar Periostitides" EXACT [] synonym: "Alveolitis of jaw" EXACT [] synonym: "Alveolitis Sicca Dolorosa" EXACT [] synonym: "Dry Socket" EXACT [] synonym: "Dry Sockets" EXACT [] synonym: "Dry tooth socket" EXACT [] xref: ICD10CM:M27.3 xref: ICD9CM:526.5 xref: MESH:D004368 is_a: DOID:403 ! mouth disease is_a: DOID:9957 ! periostitis [Term] id: DOID:13589 name: female infertility of uterine origin def: "A uterine disease that is characterized by an inability to get pregnant despite having carefully timed, unprotected sex for one year. (DO)" [https://en.wikipedia.org/wiki/Female_infertility "DO"] xref: ICD10CM:N97.2 xref: ICD9CM:628.3 is_a: DOID:345 ! uterine disease is_a: DOID:9007456 ! Female Infertility created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:13593 name: eclampsia def: "A pre-eclampsia characterized by the presence of seizures. (DO)" [http://ghr.nlm.nih.gov/condition/preeclampsia "DO", https://www.ncbi.nlm.nih.gov/pubmed/24400024 "DO"] synonym: "eclampsia in puerperium" EXACT [] synonym: "eclampsias" EXACT [] synonym: "postpartum eclampsia" EXACT [] xref: GARD:6316 xref: ICD10CM:O15 xref: ICD10CM:O15.9 xref: MESH:D004461 xref: NCI:C87167 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:136 name: vaginal carcinosarcoma def: "A vaginal carcinoma that has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12588439 "DO"] synonym: "EFO:1000618" EXACT [] synonym: "malignant vaginal mixed epithelial and mesenchymal tumor" EXACT [] synonym: "vaginal malignant mixed mesodermal (mullerian) tumor" EXACT [] synonym: "vaginal malignant mixed Mullerian tumor" EXACT [] synonym: "vaginal mixed epithelial and mesenchymal tumor" EXACT [] xref: EFO:1000618 xref: NCI:C40274 xref: NCI:C40276 xref: NCI:C40278 is_a: DOID:0050918 ! vaginal carcinoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:1360 name: frontal sinus cancer synonym: "malignant neoplasm of frontal sinus" EXACT [] synonym: "malignant tumor of frontal sinus" EXACT [] synonym: "malignant tumor of the frontal sinus" EXACT [] xref: ICD10CM:C31.2 xref: ICD9CM:160.4 xref: NCI:C3542 xref: RDO:9002359 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:9006040 ! Sinonasal Neoplasms created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:13603 name: obstructive jaundice def: "A cholestasis characterized by yellowish pigmentation of the skin and sclera due to high bilirubin levels resulting from biliary tract obstruction. (DO)" [https://en.wikipedia.org/wiki/Jaundice "DO"] synonym: "cholestatic jaundice" EXACT [] synonym: "cholestatic jaundice syndrome" EXACT [] synonym: "mechanical jaundice" EXACT [] synonym: "obstructive hyperbilirubinemia" EXACT [] xref: EFO:1001068 xref: MESH:D041781 xref: NCI:C34742 is_a: DOID:13580 ! cholestasis is_a: DOID:9004898 ! Jaundice [Term] id: DOID:13608 name: biliary atresia alt_id: MIM:210500 def: "A cholestasis characterized by blockage of the ducts that carry bile from the liver to the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Biliary_atresia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000215.htm "DO"] synonym: "atresia of bile duct" EXACT [] synonym: "congenital biliary atresia" EXACT [] synonym: "Extrahepatic Biliary Atresia" EXACT [] synonym: "Extrahepatic Biliary Atresias" EXACT [] synonym: "Familial Extrahepatic Biliary Atresia" EXACT [] synonym: "Idiopathic Extrahepatic Biliary Atresia" EXACT [] xref: EFO:0004217 xref: GARD:12010 xref: ICD10CM:Q44.2 xref: ICD9CM:751.61 xref: MESH:D001656 xref: MONDO:0008867 xref: NCI:C34421 xref: ORDO:30391 is_a: DOID:13580 ! cholestasis is_a: DOID:4138 ! bile duct disease is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:1361 name: frontal sinus benign neoplasm synonym: "neoplasm of frontal sinus" EXACT [] synonym: "tumor of the frontal sinus" EXACT [] xref: NCI:C4419 is_a: DOID:1350 ! paranasal sinus benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13619 name: extrahepatic cholestasis def: "A cholestasis resulting from causes located_in bile ducts outside the liver. (DO)" [https://medlineplus.gov/ency/article/000215.htm "DO"] synonym: "extrahepatic bile duct obstruction" EXACT [] synonym: "extrahepatic biliary stasis" EXACT [] synonym: "extrahepatic obstructive biliary disease" EXACT [] xref: EFO:1000933 xref: MESH:D001651 xref: NCI:C34420 is_a: DOID:13580 ! cholestasis [Term] id: DOID:1362 name: paranasal sinus sarcoma def: "A sarcoma and malignant tumor of nasal sinuses that is located_in the paranasal sinus. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/paranasalsinus/Patient "DO"] synonym: "sarcoma of accessory sinus" EXACT [] xref: NCI:C6849 xref: RDO:9003607 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:1115 ! sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13620 name: patent foramen ovale def: "A condition in which the FORAMEN OVALE in the ATRIAL SEPTUM fails to close shortly after birth. This results in abnormal communications between the two upper chambers of the heart. An isolated patent ovale foramen without other structural heart defects is usually of no hemodynamic significance." [MESH:D054092] synonym: "Atrial septal defect within oval fossa" EXACT [SNOMEDCT_2005_07_31:204315000] synonym: "Defect, Patent or persistent, ostium secundum" EXACT [MTHICD9_2006:745.5] synonym: "Ostium secundum type atrial septal defect" EXACT [] synonym: "Patent Oval Foramen" EXACT [] synonym: "Persistent ostium secundum" EXACT [SNOMEDCT_2005_07_31:204318003] xref: ICD10CM:Q21.12 xref: MESH:D054092 xref: NCI:C34619 xref: RDO:0007657 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:13622 name: campylobacteriosis def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever. (DO)" [http://en.wikipedia.org/wiki/Campylobacteriosis "DO", https://www.health.ny.gov/diseases/communicable/campylobacteriosis/fact_sheet.htm "DO"] synonym: "Campylobacter Infection" EXACT [] synonym: "Campylobacter Infections" EXACT [] xref: EFO:0007190 xref: MESH:D002169 is_a: DOID:2326 ! gastroenteritis is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:13626 name: photokeratitis xref: ICD10CM:H16.13 xref: ICD9CM:370.24 xref: NCI:C118750 is_a: DOID:4677 ! keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13628 name: favism def: "A glucosephosphate dehydrogenase deficiency characterized by a hemolytic reaction to consumption of broad beans. (DO)" [http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency "DO"] synonym: "CNSHA1" EXACT [] synonym: "congenital nonspherocytic hemolytic anemia-1" EXACT [] synonym: "Favisms" EXACT [] synonym: "favism, susceptibility to" RELATED [] synonym: "G6PD a-" RELATED [] synonym: "G6PD Aures" RELATED [] synonym: "G6PD Gastonia" RELATED [] synonym: "G6PD Malaga" RELATED [] synonym: "G6PD Marion" RELATED [] synonym: "G6PD Mediterranean" RELATED [] synonym: "G6PD Minnesota" RELATED [] synonym: "G6PD Nara" RELATED [] synonym: "G6PD Santiago" RELATED [] synonym: "G6PD Santiago De Cuba" RELATED [] synonym: "G6PD Serres" RELATED [] synonym: "G6PD Sunderland" RELATED [] synonym: "nonspherocytic hemolytic anemia due to G6PD deficiency" EXACT [] xref: ICD10CM:D55.0 xref: MESH:C567533 xref: MESH:D005236 xref: MIM:300908 xref: MONDO:0010480 xref: NCI:C34607 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:2862 ! glucosephosphate dehydrogenase deficiency is_a: DOID:9003189 ! Plant Poisoning is_a: DOID:9006436 ! Foodborne Diseases [Term] id: DOID:13629 name: dentine erosion xref: ICD9CM:521.32 xref: MONDO:0001762 is_a: DOID:2498 ! tooth erosion [Term] id: DOID:1363 name: ethmoid sinus cancer synonym: "malignant neoplasm of ethmoidal sinus" EXACT [] synonym: "malignant tumor of ethmoidal sinus" EXACT [NCI2004_11_17:C3541] synonym: "malignant tumor of ethmoid sinus" EXACT [SNOMEDCT_2005_07_31:363426009] xref: ICD10CM:C31.1 xref: ICD9CM:160.3 xref: NCI:C3541 xref: RDO:9002361 is_a: DOID:0050619 ! paranasal sinus cancer is_a: DOID:1364 ! ethmoidal sinus benign neoplasm [Term] id: DOID:13636 name: Fanconi anemia def: "A congenital hypoplastic anemia characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors. It is a result of a genetic defect in a cluster of proteins responsible for DNA repair. (DO)" [http://en.wikipedia.org/wiki/Fanconi_anemia "DO", http://ghr.nlm.nih.gov/condition/fanconi-anemia "DO", http://rarediseases.info.nih.gov/gard/6425/fanconi-anemia/resources/1 "DO"] synonym: "Fanconi's anaemia" EXACT [] synonym: "Fanconi's anemia" EXACT [] synonym: "Fanconi anaemia" EXACT [] synonym: "Fanconi Anemias" EXACT [] synonym: "Fanconi Hypoplastic Anemia" EXACT [] synonym: "Fanconi Pancytopenia" EXACT [] synonym: "Fanconi Panmyelopathy" EXACT [] xref: GARD:6425 xref: ICD10CM:D61.09 xref: MESH:D005199 xref: MIM:PS227650 xref: NCI:C62505 xref: ORDO:84 is_a: DOID:1342 ! congenital hypoplastic anemia is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:1364 name: ethmoidal sinus benign neoplasm synonym: "neoplasm of ethmoidal sinus" EXACT [] synonym: "tumor of ethmoidal sinus" EXACT [] xref: NCI:C4416 is_a: DOID:1350 ! paranasal sinus benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13641 name: exfoliation syndrome alt_id: MIM:177650 def: "A phacogenic glaucoma that is characterized by open-angle glaucoma related to deposition of extracellular fibrillar material in anterior segment structures, which blocks aqueous fluid outflow, raises intraocular pressure, and leads to eventual optic nerve atrophy and visual field loss. Exfoliation syndrome has_symptom progressive decreased vision, especially peripheral vision. Exfoliation syndrome is caused by age-related deposition of fibrillar material in anterior segment structures. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4157521/ "DO"] synonym: "exfoliation glaucoma" EXACT [] synonym: "exfoliation syndromes" EXACT [] synonym: "exfoliation syndrome, susceptibility to" RELATED [] synonym: "Exfoliative Syndrome" EXACT [] synonym: "exfoliative syndromes" EXACT [] synonym: "Glaucoma Capsulare" EXACT [] synonym: "PEXG" EXACT [] synonym: "PEXS" EXACT [] synonym: "PSEUDOEXFOLIATION GLAUCOMA" EXACT [] synonym: "Pseudoexfoliation Of The Lens" EXACT [] synonym: "Pseudo Exfoliation Syndrome" EXACT [] synonym: "pseudoexfoliation syndrome" EXACT [] synonym: "pseudo-exfoliation syndromes" EXACT [] synonym: "pseudoexfoliation syndromes" EXACT [] synonym: "XFG" EXACT [] synonym: "XFS" EXACT [] xref: EFO:0004235 xref: ICD9CM:365.52 xref: MESH:D017889 xref: NCI:C129025 is_a: DOID:12571 ! phacogenic glaucoma is_a: DOID:225 ! syndrome is_a: DOID:240 ! iris disease [Term] id: DOID:13649 name: polyneuropathy in collagen vascular disease xref: ICD9CM:357.1 xref: RDO:9004832 is_a: DOID:1389 ! polyneuropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13651 name: eversion of lacrimal punctum xref: ICD10CM:H04.52 xref: ICD9CM:375.51 xref: RDO:9004731 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13653 name: stenosis of lacrimal punctum xref: ICD10CM:H04.56 xref: ICD9CM:375.52 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13654 name: stenosis of lacrimal passage synonym: "stenosis of lacrimal canaliculi" EXACT [] xref: ICD10CM:H04.54 xref: ICD9CM:375.53 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13655 name: acquired tear duct stenosis synonym: "acquired nasolacrimal duct stenosis" EXACT [SNOMEDCT_2005_07_31:193995004] synonym: "Stenosis of nasolacrimal duct, acquired" EXACT [ICD9CM_2006:375.56] xref: ICD10CM:H04.55 xref: ICD9CM:375.56 xref: RDO:9004732 is_a: DOID:1400 ! lacrimal apparatus disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13656 name: gastrin secretion abnormality xref: ICD9CM:251.5 is_a: DOID:1428 ! endocrine pancreas disease [Term] id: DOID:13658 name: infective urethral stricture xref: ICD9CM:598.01 is_a: DOID:1829 ! urethral stricture [Term] id: DOID:13662 name: ulcer of anus and rectum def: "anal and rectal ulcer" [] synonym: "anal and rectal ulcer" EXACT [SNOMEDCT_2005_07_31:197227009] xref: ICD10CM:K62.6 xref: ICD9CM:569.41 is_a: DOID:1285 ! rectal disease [Term] id: DOID:13664 name: post-vaccinal encephalitis synonym: "encephalitis following immunization procedures" EXACT [] synonym: "post-vaccinal encephalitides" EXACT [] synonym: "postvaccinal encephalitis" EXACT [] synonym: "post-vaccinal encephalomyelitides" EXACT [] synonym: "post vaccinal encephalomyelitis" EXACT [] synonym: "postvaccinal encephalomyelitis" EXACT [] synonym: "vaccination encephalitis" EXACT [] xref: ICD10CM:G04.02 is_a: DOID:639 ! acute disseminated encephalomyelitis is_a: DOID:9588 ! encephalitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:13676 name: posterior scleritis xref: ICD10CM:H15.03 xref: ICD9CM:379.07 is_a: DOID:13452 ! scleritis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13677 name: SAPHO syndrome def: "A syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC8802951/ "DO"] synonym: "acquired hyperostosis syndrome" EXACT [] synonym: "Acquired Hyperostosis Syndromes" EXACT [] synonym: "SAPHO syndromes" EXACT [] synonym: "synovitis, acne, pustlosis, hyperostosis, and osteomyelitis" EXACT [] synonym: "synovitis, acne, pustulosis palmaris, hyperostosis, osteomyelitis syndrome" EXACT [] xref: EFO:1001164 xref: GARD:7606 xref: MESH:D020083 xref: NCI:C119049 xref: NCI:C84530 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:13687 name: chronic duodenal ileus xref: ICD9CM:537.2 is_a: DOID:3558 ! duodenal obstruction [Term] id: DOID:13689 name: prostate calculus synonym: "calculus of prostate" EXACT [] synonym: "prostatic lithiasis" EXACT [] synonym: "prostatic stone" EXACT [] synonym: "stone of prostate" EXACT [] xref: ICD10CM:N42.0 xref: ICD9CM:602.0 xref: NCI:C26936 is_a: DOID:47 ! prostate disease is_a: DOID:9590 ! lower urinary tract calculus created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:13690 name: acute gonococcal cystitis def: "An acute cystitis that is caused by gonorrhea. (DO)" [https://www.aafp.org/pubs/afp/issues/2012/1115/p931.html "DO"] synonym: "acute gonorrhea of bladder" EXACT [] synonym: "gonococcal cystitis" EXACT [] xref: ICD9CM:098.11 is_a: DOID:0080784 ! urinary tract infection is_a: DOID:13148 ! acute cystitis created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:13691 name: dermoid cyst of skin def: "A dermoid cyst that is located_in the skin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23488469 "DO"] synonym: "skin dermoid" EXACT [] xref: NCI:C4632 is_a: DOID:2658 ! dermoid cyst is_a: DOID:3165 ! skin benign neoplasm created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:137 name: vaginal squamous papilloma def: "A vaginal benign neoplasm that is characterized by the presence of a fibrovascular stalk lined by normal squamous epithelium. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6374 "DO"] synonym: "squamous papilloma of vagina" EXACT [NCI2004_11_17:C6374] xref: NCI:C6374 is_a: DOID:0060114 ! vaginal benign neoplasm [Term] id: DOID:13709 name: premature ejaculation def: "The emission of SEMEN and seminal fluid during the act of preparation for sexual intercourse, i.e. before there is penetration, or shortly after penetration." [MESH:D061686] synonym: "Ejaculatio Praecox" EXACT [] synonym: "Ejaculatio Praecoxs" EXACT [] synonym: "Premature Ejaculations" EXACT [] xref: ICD10CM:F52.4 xref: ICD9CM:302.75 xref: MESH:D061686 xref: NCI:C94349 xref: RDO:0012099 is_a: DOID:0060043 ! sexual health disorder is_a: DOID:10132 ! psychosexual disorder is_a: DOID:1876 ! sexual dysfunction [Term] id: DOID:1371 name: uterine corpus adenomatoid tumor def: "An uterine benign neoplasm that is characterized by the formation of gland-like structures, arises from the uterine serosa and myometrium, and has_material_basis_in the mesothelium. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917104/ "DO"] synonym: "uterine corpus adenomatoid tumour" EXACT [] synonym: "uterine corpus localised epithelial Mesothelioma" EXACT [] synonym: "uterine corpus localized epithelial mesothelioma" EXACT [] xref: NCI:C27250 xref: RDO:9004992 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:746 ! adenomatoid tumor created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:13711 name: dental fluorosis def: "A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21701193/ "DO"] synonym: "Dental Fluoroses" EXACT [] synonym: "intrinsic enamel discolouration of fluorosis" EXACT [] synonym: "Mottled Enamel" EXACT [] synonym: "Mottled Enamels" EXACT [] synonym: "mottled teeth" EXACT [] synonym: "mottling of enamel" EXACT [] xref: EFO:1000892 xref: ICD10CM:K00.3 xref: ICD9CM:520.3 xref: MESH:D009050 xref: NCI:C85059 is_a: DOID:1091 ! tooth disease [Term] id: DOID:13714 name: anodontia def: "A tooth disease that is characterized by complete absence of permanent teeth. (DO)" [https://rarediseases.info.nih.gov/diseases/5818/index "DO"] synonym: "complete absence of teeth" EXACT [] synonym: "Developmental absence of tooth" EXACT [] synonym: "Familial Tooth Ageneses" EXACT [] synonym: "Familial Tooth Agenesis" EXACT [] synonym: "Hypodontia" EXACT [] synonym: "HYPODONTIA/OLIGODONTIA WITH OROFACIAL CLEFT" NARROW [] synonym: "Non-syndromic oligodontia" NARROW [] synonym: "PARTIAL CONGENITAL ABSENCE OF TEETH" NARROW [] synonym: "selective tooth agenesis with orofacial cleft" NARROW [] synonym: "selective tooth agenesis with or without orofacial cleft" EXACT [] synonym: "total anodontia of permanent and deciduous teeth" EXACT [] xref: GARD:5818 xref: ICD10CM:K00.0 xref: ICD9CM:520.0 xref: MESH:D000848 is_a: DOID:1091 ! tooth disease is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:13717 name: mature cataract def: "A senile cataract that is characterized by full white or brunescent opacification of the lens of the eye such that the red reflex is obscured. It is a later stage of senile cataracts and is caused by a multifactorial etiology related to aging. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"] synonym: "Total, mature senile cataract" EXACT [SNOMEDCT_2005_07_31:193590000] synonym: "Total or mature cataract" EXACT [ICD9CM_2006:366.17] xref: RDO:9004349 is_a: DOID:9669 ! senile cataract created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13722 name: neuroschistosomiasis def: "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure. (DO)" [https://www.ajtmh.org/view/journals/tpmd/76/5/article-p964.xml "DO", https://www.ncbi.nlm.nih.gov/pubmed/16138195 "DO", https://wwwnc.cdc.gov/eid/article/12/9/06-0113_article "DO"] synonym: "central nervous system schistosomiasis" EXACT [] synonym: "Neuroschistosomiases" EXACT [] synonym: "Schistosomal Myelitis" EXACT [] synonym: "Schistosomal Myelopathies" EXACT [] synonym: "Schistosomal Myelopathy" EXACT [] synonym: "Schistosomal Myeloradiculopathies" EXACT [] synonym: "schistosomal myeloradiculopathy" EXACT [] xref: EFO:0007394 xref: MESH:D020818 is_a: DOID:1395 ! schistosomiasis is_a: DOID:319 ! spinal cord disease is_a: DOID:9000928 ! Central Nervous System Helminthiasis is_a: DOID:936 ! brain disease [Term] id: DOID:13724 name: scurvy alt_id: MIM:240400 def: "A nutritional deficiency disease that is characterized by vitamin C (ascorbic acid) deficiency and has_symptom fatigue, weakness, anemia, petechiae, corkscrew hair, gingivitis, and poor wound healing. (DO)" [https://medlineplus.gov/ency/article/000355.htm "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2567249/ "DO"] synonym: "GULO, NONFUNCTIONAL" NARROW [] synonym: "GULOP" NARROW [] synonym: "Hypoascorbemia" EXACT [] synonym: "hypoascorbemias" EXACT [] synonym: "inability to synthesize vitamin C" NARROW [] synonym: "L-GULONOLACTONE OXIDASE, NONFUNCTIONAL" NARROW [] synonym: "Scorbutus" EXACT [] synonym: "scurvies" EXACT [] xref: EFO:1001169 xref: GARD:10406 xref: ICD10CM:E54 xref: MESH:D012614 xref: NCI:C35010 is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:9003737 ! Ascorbic Acid Deficiency [Term] id: DOID:13725 name: beriberi def: "A thiamine deficiency disease that is characterized by being severe and chronic. (DO)" [https://en.wikipedia.org/wiki/Thiamine_deficiency "DO", https://medlineplus.gov/ency/article/000339.htm "DO", https://rarediseases.info.nih.gov/diseases/9948/beriberi "DO"] xref: EFO:1000837 xref: GARD:9948 xref: ICD10CM:E51.1 xref: ICD9CM:265.0 xref: MESH:D001602 is_a: DOID:0070313 ! thiamine deficiency disease [Term] id: DOID:1373 name: endometrial stromal nodule def: "An uterine benign neoplasm that has_material_basis_in cells reminiscent of proliferative phase endometrial stroma. (DO)" [http://www.pathologyoutlines.com/topic/uterusstromalnodule.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/26221551 "DO"] xref: EFO:1000241 xref: ICDO:8930/0 xref: NCI:C4262 xref: RDO:9005002 is_a: DOID:0060095 ! uterine benign neoplasm created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:13730 name: malignant renovascular hypertension xref: RDO:9002849 is_a: DOID:10177 ! malignant hypertensive renal disease is_a: DOID:13731 ! malignant secondary hypertension created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13731 name: malignant secondary hypertension xref: ICD9CM:405.0 xref: RDO:9002855 is_a: DOID:10824 ! malignant hypertension is_a: DOID:11130 ! secondary hypertension created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13732 name: panophthalmitis def: "Acute suppurative inflammation of the inner eye with necrosis of the sclera (and sometimes the cornea) and extension of the inflammation into the orbit. Pain may be severe and the globe may rupture. In endophthalmitis the globe does not rupture." [MESH:D010202] synonym: "Panophthalmitides" EXACT [] xref: EFO:1001081 xref: ICD9CM:360.02 xref: MESH:D010202 is_a: DOID:13140 ! suppurative uveitis is_a: DOID:13452 ! scleritis is_a: DOID:9724 ! purulent endophthalmitis [Term] id: DOID:13736 name: uterine inflammatory disease def: "A uterine disease that is characterized by inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25153777 "DO"] synonym: "inflammatory disease of the uterus" EXACT [] xref: EFO:0009572 xref: ICD10CM:N71.9 xref: ICD9CM:615.9 is_a: DOID:1003 ! pelvic inflammatory disease is_a: DOID:345 ! uterine disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:13738 name: hepatic infarction synonym: "hepatic infarct" EXACT [] synonym: "infarct of liver" EXACT [] synonym: "liver infarct" EXACT [] synonym: "liver infarction" EXACT [] xref: ICD10CM:K76.3 xref: ICD9CM:573.4 xref: MESH:D000081011 is_a: DOID:272 ! hepatic vascular disease is_a: DOID:9005600 ! Infarction created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13739 name: nutmeg liver synonym: "chronic passive congestion of liver" EXACT [] xref: ICD10CM:K76.1 xref: ICD9CM:573.0 xref: RDO:9002803 is_a: DOID:272 ! hepatic vascular disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13742 name: neurofibroma of spinal cord synonym: "SPINAL NEUROFIBROMA" EXACT [] xref: NCI:C5145 is_a: DOID:5612 ! spinal cancer is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13743 name: spinal cord lipoma def: "A central nervous system lipoma that is characterized by abnormal fat accumulation in and around the spinal cord. (DO)" [http://neurosurgery.ucla.edu/spinal-cord-lipomas-lipomyelomeningoceles "DO"] synonym: "lipoma of spinal cord" EXACT [] xref: NCI:C4619 is_a: DOID:6293 ! central nervous system lipoma is_a: DOID:9006391 ! Spinal Cord Neoplasms created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:1375 name: neonatal urinary tract infectious disease synonym: "urinary tract infection of newborn" EXACT [] xref: ICD10CM:P39.3 xref: ICD9CM:771.82 is_a: DOID:18 ! urinary system disease [Term] id: DOID:13756 name: epiphora due to insufficient drainage xref: ICD10CM:H04.22 xref: ICD9CM:375.22 is_a: DOID:13757 ! excessive tearing created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13757 name: excessive tearing synonym: "epiphora" EXACT [] synonym: "excessive tear production" EXACT [] synonym: "watering eye" EXACT [] xref: ICD10CM:H04.2 xref: ICD9CM:375.2 xref: NCI:C50552 is_a: DOID:1400 ! lacrimal apparatus disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13760 name: Pthirus pubis infestation def: "A lice infestation that involves parasitic infestation by pubic lice Pthirus pubis, which are found in the pubic hair, less commonly in eyebrows, eyelashes, beard, mustache, armpit, perianal area, groin, trunk and scalp. The symptoms include itching in the pubic and groin area. Intense itching leads to scratching which can cause sores and secondary bacterial infection of the skin. (DO)" [http://www.cdc.gov/lice/pubic/disease.html "DO"] synonym: "crabs" EXACT [] synonym: "infestation by Phthirus pubis" EXACT [] synonym: "Pediculosis pubis" EXACT [] synonym: "Pediculus pubis" EXACT [] synonym: "Phthiriasis pubis" EXACT [] synonym: "Phthirus/pediculus pubis - pubic lice - crabs" EXACT [] synonym: "Phthirus pubis" EXACT [] xref: ICD10CM:B85.3 xref: ICD9CM:132.2 xref: NCI:C35777 is_a: DOID:5502 ! lice infestation created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:13767 name: clonorchiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Clonorchis sinensis. The symptoms include abdominal pain, nausea, diarrhea, and eosinophilia. In long-standing infections, cholangitis, cholelithiasis, pancreatitis, and cholangiocarcinoma can develop. (DO)" [http://en.wikipedia.org/wiki/Clonorchiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Clonorchiasis.htm "DO"] synonym: "clonorchiases" EXACT [] synonym: "oriental liver fluke disease" EXACT [] xref: EFO:0007210 xref: ICD10CM:B66.1 xref: ICD9CM:121.1 xref: MESH:D003003 is_a: DOID:409 ! liver disease is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:888 ! fasciolopsiasis [Term] id: DOID:13768 name: opisthorchiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the liver, pancreas and gall bladder by Opisthorchis viverrini or Opisthorchis felineus. The symptoms include dyspepsia, abdominal pain, diarrhea, constipation, hepatomegaly, cholangitis, cholecystitis, and cholangiocarcinoma. (DO)" [http://en.wikipedia.org/wiki/Opisthorchiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Opisthorchiasis.htm "DO"] synonym: "infection by Opisthorchis" EXACT [] synonym: "opisthorchiases" EXACT [] xref: EFO:0007404 xref: GARD:9746 xref: ICD10CM:B66.0 xref: ICD9CM:121.0 xref: MESH:D009889 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:26 ! pancreas disease is_a: DOID:409 ! liver disease is_a: DOID:888 ! fasciolopsiasis [Term] id: DOID:13774 name: Addison's disease alt_id: MIM:240200 def: "An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. (DO)" [http://en.wikipedia.org/wiki/Addison%27s_disease "DO"] synonym: "Addison disease" EXACT [] synonym: "Addison disease, chronic adrenal insufficiency" EXACT [] synonym: "Addisons disease" EXACT [] synonym: "adrenal aplasia" EXACT [] synonym: "adrenal hypoplasia" EXACT [] synonym: "familial hypoadrenocorticism" EXACT [] synonym: "primary adrenal insufficiency" EXACT [] synonym: "primary adrenocortical insufficiencies" EXACT [] synonym: "primary adrenocortical insufficiency" EXACT [] synonym: "primary hypoadrenalism" EXACT [] synonym: "primary hypoadrenalisms" EXACT [] xref: GARD:5740 xref: ICD10CM:E27.1 xref: MESH:D000224 xref: NCI:C26689 xref: ORDO:85138 is_a: DOID:10493 ! adrenal cortical hypofunction is_a: DOID:417 ! autoimmune disease is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:13775 name: plantar wart def: "A viral infectious disease that results_in benign epithelial tumors located_in skin of the sole or toes of the foot, has_material_basis_in human papillomavirus (types 1, 2, 4 or 63), has_symptom lesions that appear on the sole of the foot. (DO)" [http://en.wikipedia.org/wiki/Plantar_wart "DO"] synonym: "EFO:1002023" EXACT [] synonym: "verruca plantaris" EXACT [] xref: EFO:1002023 xref: ICD10CM:B07.0 xref: ICD9CM:078.12 xref: NCI:C26913 is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13777 name: epidermodysplasia verruciformis def: "A primary immunodeficiency disease that results_in skin squamous cell carcinoma located_in skin, associated with a high risk of carcinoma. It is characterized by abnormal susceptibility to human papillomaviruses of the skin and has_symptom lesions on the body. (DO)" [http://en.wikipedia.org/wiki/Epidermodysplasia_verruciformis "DO"] synonym: "EV" EXACT [] synonym: "Lewandowsky Lutz disease" EXACT [] synonym: "Lewandowsky-Lutz syndrome" EXACT [] synonym: "Lutz-Lewandowsky epidermodysplasia verruciformis" EXACT [] xref: GARD:6357 xref: MESH:D004819 xref: MIM:PS226400 xref: NCI:C126877 xref: ORDO:302 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3178 ! skin papilloma is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:13778 name: chancroid def: "A primary bacterial infectious disease that is a sexually transmitted infection located in skin of the genitals, has_material_basis_in Haemophilus ducreyi, which is transmitted by sexual contact. The infection has symptom painful and soft ulcers. (DO)" [http://en.wikipedia.org/wiki/Chancroid "DO"] synonym: "Chancroids" EXACT [] synonym: "Ulcus molle, skin" EXACT [] xref: GARD:9522 xref: ICD10CM:A57 xref: ICD9CM:099.0 xref: MESH:D002602 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:37 ! skin disease is_a: DOID:9000109 ! Haemophilus Infections is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases [Term] id: DOID:13781 name: hypermobility syndrome synonym: "benign joint hypermobility" EXACT [] xref: ICD10CM:M35.7 xref: ICD9CM:728.5 is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:13787 name: localized anterior staphyloma synonym: "localised anterior staphyloma" EXACT [] xref: ICD10CM:H15.82 xref: ICD9CM:379.14 is_a: DOID:11595 ! scleral staphyloma [Term] id: DOID:13788 name: equatorial staphyloma xref: ICD10CM:H15.81 xref: ICD9CM:379.13 is_a: DOID:11595 ! scleral staphyloma [Term] id: DOID:13789 name: staphyloma posticum xref: ICD10CM:H15.83 xref: ICD9CM:379.12 is_a: DOID:11595 ! scleral staphyloma [Term] id: DOID:13790 name: acute tympanitis synonym: "acute myringitis" EXACT [] xref: ICD10CM:H73.0 xref: ICD9CM:384.00 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:13791 name: myringitis bullosa hemorrhagica def: "A tympanic membrane disease that is characterized by blisters on the eardrum resulting from infection. (DO)" [https://www.nlm.nih.gov/medlineplus/ency/article/001369.htm "DO"] synonym: "bullous myringitis" EXACT [] xref: ICD10CM:H73.01 xref: ICD9CM:384.01 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:13794 name: anterior scleritis xref: ICD10CM:H15.01 xref: ICD9CM:379.03 is_a: DOID:13452 ! scleritis [Term] id: DOID:13799 name: female breast central part cancer def: "A female breast cancer that is located_in the center of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26060127 "DO"] synonym: "malignant neoplasm of central part of female breast" EXACT [] synonym: "malignant neoplasm of central portion of female breast" EXACT [] xref: ICD10CM:C50.11 xref: ICD9CM:174.1 xref: RDO:9001785 is_a: DOID:0050671 ! female breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:138 name: vaginal squamous tumor def: "A vaginal cancer that has_material_basis_in squamous tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23057430 "DO"] xref: NCI:C40242 xref: RDO:9004609 is_a: DOID:119 ! vaginal cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:1380 name: endometrial cancer def: "A uterine cancer that is located_in tissues lining the uterus. (DO)" [http://www.cancer.gov/dictionary?CdrID=444987 "DO"] synonym: "cancer of endometrium" EXACT [] synonym: "cancer of the endometrium" EXACT [] synonym: "endometrial Ca" EXACT [] synonym: "endometrial cancers" EXACT [] synonym: "endometrial cancer, somatic" NARROW [] synonym: "endometrial neoplasm" EXACT [] synonym: "endometrium cancer" EXACT [] synonym: "endometrium cancers" EXACT [] synonym: "malignant endometrial neoplasm" EXACT [] synonym: "malignant neoplasm of endometrium" EXACT [] synonym: "MSH3-RELATED CONDITION" BROAD [] synonym: "neoplasm of endometrium" EXACT [] synonym: "primary malignant neoplasm of endometrium" EXACT [] synonym: "tumor of endometrium" EXACT [] xref: EFO:0004230 xref: GARD:11981 xref: ICD10CM:C54.1 xref: MIM:608089 xref: NCI:C27815 xref: NCI:C3012 is_a: DOID:289 ! endometriosis is_a: DOID:363 ! uterine cancer is_a: DOID:9007715 ! Endometrial Neoplasms created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:13800 name: inclusion conjunctivitis def: "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus. (DO)" [https://www.visualdx.com/visualdx/diagnosis/inclusion+conjunctivitis?diagnosisId=54853&moduleId=101 "DO"] synonym: "adult inclusion conjunctivitis" EXACT [] synonym: "chlamydial conjunctivitis" EXACT [] synonym: "Inclusion Blennorrhea" EXACT [] synonym: "inclusion blennorrheas" EXACT [] synonym: "inclusion blennorrhoea" EXACT [] synonym: "inclusion blenorrhea" EXACT [] synonym: "inclusion conjunctivitides" EXACT [] synonym: "paratrachoma" RELATED [] xref: EFO:0007324 xref: GARD:6777 xref: ICD10CM:A74.0 xref: ICD9CM:077.0 xref: MESH:D003235 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:11263 ! chlamydia is_a: DOID:9700 ! bacterial conjunctivitis [Term] id: DOID:13801 name: pharyngoconjunctival fever def: "A viral infectious disease that results in infection located in pharynx or located in conjunctiva, has_material_basis_in Human adenovirus 3 or has_material_basis_in Human adenovirus 7, which are transmitted by droplet spread of respiratory secretions or transmitted by fomites. The infection has symptom fever, has symptom lymphadenopathy of the neck, and has symptom headache. (DO)" [http://en.wikipedia.org/wiki/Pharyngoconjunctival_fever "DO"] synonym: "adenoviral pharyngoconjunctivitis" EXACT [] synonym: "human adenovirus infection" EXACT [] synonym: "human adenovirus infections" EXACT [] synonym: "pharyngo conjunctival fever" EXACT [] xref: EFO:0007434 xref: ICD9CM:077.2 xref: MESH:D000258 xref: NCI:C34924 is_a: DOID:4251 ! conjunctival disease is_a: DOID:9000873 ! Adenoviridae Infections [Term] id: DOID:13809 name: familial combined hyperlipidemia alt_id: MIM:144250 def: "A type of familial lipid metabolism disorder characterized by a variable pattern of elevated plasma CHOLESTEROL and/or TRIGLYCERIDES. Multiple genes on different chromosomes may be involved, such as the major late transcription factor (UPSTREAM STIMULATORY FACTORS) on CHROMOSOME 1." [MESH:D006950] synonym: "familial combined hyperlipidemias" EXACT [] synonym: "familial multiple lipoprotein-type hyperlipidemia" EXACT [] synonym: "FCHL" EXACT [] synonym: "hyperbetalipoproteinemia with prebetalipoproteinemia" EXACT [] synonym: "HYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO" RELATED [] synonym: "mixed hyperlipidaemia" EXACT [] synonym: "multiple lipoprotein-type hyperlipidemia" EXACT [] synonym: "multiple lipoprotein-type hyperlipidemias" EXACT [] synonym: "type IIb hyperlipoproteinemia" EXACT [NCI2004_11_17:C34708] xref: EFO:0000492 xref: ICD10CM:E78.49 xref: MESH:D006950 xref: NCI:C35637 is_a: DOID:1168 ! familial hyperlipidemia is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:1381 name: Fox-Fordyce disease def: "A sweat gland disease that is characterized by dilatation of the follicular infundibulum with hyperkeratosis, acanthosis, and spongiosis with perifollicular inflammation leading to hair loss and has_symptom flesh colored papules with hair loss and pruritis, especially of the axilla. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC4746034/ "DO"] synonym: "Apocrine Miliaria" EXACT [] synonym: "Fox Fordyce Syndrome" EXACT [] xref: EFO:1000703 xref: GARD:6462 xref: ICD10CM:L75.2 xref: ICD9CM:705.82 xref: MESH:D005588 xref: NCI:C84716 is_a: DOID:1382 ! miliaria is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:13810 name: familial hypercholesterolemia alt_id: OMIA:000499 def: "A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. (DO)" [http://en.wikipedia.org/wiki/Familial_hypercholesterolemia "DO"] synonym: "familial hyperbetalipoproteinaemia" EXACT [] synonym: "familial hypercholesteremia" EXACT [] synonym: "familial hypercholesterolemias" EXACT [] synonym: "FH" EXACT [] synonym: "FHC" EXACT [] synonym: "FHCL1" EXACT [] synonym: "Fredrickson type IIa hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type IIa lipidaemia" EXACT [] synonym: "hyperbetalipoproteinemia" EXACT [] synonym: "HYPERCHOLESTEROLEMIA, FAMILIAL, 1" EXACT [] synonym: "HYPERCHOLESTEROLEMIC XANTHOMATOSES, FAMILIAL" EXACT [] synonym: "HYPERCHOLESTEROLEMIC XANTHOMATOSIS, FAMILIAL" EXACT [] synonym: "LDL RECEPTOR DISORDER" NARROW [] synonym: "LDLR-RELATED CONDITION" EXACT [] synonym: "type II hyperlipidemia" EXACT [] xref: EFO:0004911 xref: GARD:10416 xref: ICD10CM:E78.01 xref: MIM:143890 xref: MIM:PS143890 xref: NCI:C34704 xref: ORDO:406 is_a: DOID:9000808 ! Hypercholesterolemia is_a: DOID:9005519 ! Hyperlipoproteinemia Type II [Term] id: DOID:13811 name: chronic subinvolution of uterus def: "A uterine disease that is characterized by the inability of the uterus to return to its pre-gestational size after pregnancy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18856846 "DO"] xref: ICD9CM:621.1 is_a: DOID:345 ! uterine disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:13812 name: adhesions of uterus def: "A uterine disease that is characterized by the presence of scar tissue which attaches the uterus to another structure. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26700995 "DO"] synonym: "band of uterus" EXACT [] synonym: "intrauterine adhesions" EXACT [] synonym: "intrauterine synechiae" EXACT [] is_a: DOID:345 ! uterine disease [Term] id: DOID:13814 name: hypoglossal nerve disease def: "A glossopharyngeal nerve disease that is located_in the hypoglossal nerve (twelfth cranial nerve). (DO)" [https://www.merckmanuals.com/home/brain\,-spinal-cord\,-and-nerve-disorders/cranial-nerve-disorders/hypoglossal-nerve-disorders "DO", MESH:D020437] synonym: "cranial nerve XII diseases" EXACT [] synonym: "cranial nerve XII disorders" EXACT [] synonym: "disorder of 12th nerve" EXACT [] synonym: "disorder of hypoglossal [12th] nerve" EXACT [] synonym: "disorder of hypoglossal nerve" EXACT [] synonym: "disorder of XII nerve" EXACT [] synonym: "hypoglossal nerve diseases" EXACT [] synonym: "Hypoglossal Nerve Palsies" EXACT [] synonym: "Hypoglossal Nerve Palsy" EXACT [] synonym: "Hypoglossal Neuralgia" EXACT [] synonym: "Hypoglossal Neuralgias" EXACT [] synonym: "Hypoglossal Neuropathies" EXACT [] synonym: "Hypoglossal Neuropathy" EXACT [] synonym: "twelfth cranial nerve diseases" EXACT [] synonym: "twelfth cranial nerve disorder" EXACT [] xref: ICD10CM:G52.3 xref: ICD9CM:352.5 xref: MESH:D020437 xref: NCI:C26954 is_a: DOID:3418 ! glossopharyngeal nerve disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:13819 name: lymphogranuloma venereum def: "A commensal bacterial infectious disease that results_in infection located_in lymph nodes, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact, and transmitted_by fomites. The infection has_symptom inguinal lymphadenitis, has_symptom abscesses in the groin area, and has_symptom lymphangitis. (DO)" [http://en.wikipedia.org/wiki/Lymphogranuloma_venereum "DO"] synonym: "climatic or tropical bubo" EXACT [] synonym: "Durand-Nicolas-Favre disease" EXACT [] synonym: "lymphogranuloma inguinale" EXACT [] synonym: "poradenitis inguinale" EXACT [] synonym: "strumous bubo" EXACT [] xref: EFO:0007353 xref: GARD:9545 xref: ICD10CM:A55 xref: ICD9CM:099.1 xref: MESH:D008219 xref: NCI:C26822 is_a: DOID:11263 ! chlamydia is_a: DOID:9063 ! Ritter's disease is_a: DOID:9113 ! granuloma inguinale [Term] id: DOID:1382 name: miliaria def: "A sweat gland disease that is characterized by blocked eccrine sweat glands and ducts. (DO)" [http://www.pathologyoutlines.com/topic/skinnontumormiliaria.html "DO", https://stanfordmedicine25.stanford.edu/blog/archive/2017/Miliaria.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK537176/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/30725861 "DO"] synonym: "eccrine miliaria" EXACT [] synonym: "heat rash" EXACT [] synonym: "sweat rash" EXACT [] xref: EFO:1000734 xref: ICD10CM:L74.3 xref: MESH:D008883 xref: NCI:C34820 is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:13822 name: tetanic cataract def: "A cataract resulting from hypocalcemia. (DO)" [https://ncithesaurus.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35068 "DO"] synonym: "hypocalcaemic cataract" EXACT [] xref: ICD9CM:366.42 xref: NCI:C35068 is_a: DOID:83 ! cataract created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:13823 name: parasitic eyelid infestation synonym: "parasitic infestation of eyelid" EXACT [] xref: ICD9CM:373.6 is_a: DOID:9004432 ! Parasitic Eye Infections is_a: DOID:9423 ! blepharitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13825 name: squamous blepharitis xref: ICD10CM:H01.02 xref: ICD9CM:373.02 is_a: DOID:9423 ! blepharitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1383 name: sweat gland disease def: "A skin disease located_in the sweat glands. (DO)" [https://meshb.nlm.nih.gov/record/ui?ui=D013543 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9448199 "DO"] synonym: "apocrine sweat gland disease" NARROW [] synonym: "sweat gland diseases" EXACT [] xref: EFO:1000772 xref: EFO:1002046 xref: ICD10CM:L74.9 xref: ICD9CM:705.9 xref: MESH:D013543 is_a: DOID:37 ! skin disease [Term] id: DOID:13832 name: patent ductus arteriosus alt_id: MIM:607411 def: "A congenital heart defect characterized by the persistent opening of fetal DUCTUS ARTERIOSUS that connects the PULMONARY ARTERY to the descending aorta (AORTA, DESCENDING) allowing unoxygenated blood to bypass the lung and flow to the PLACENTA. Normally, the ductus is closed shortly after birth." [MESH:D004374] synonym: "patency of the ductus arteriosus" EXACT [] synonym: "PATENT DUCTUS ARTERIOSUS 1" EXACT [] synonym: "patent ductus arteriosus familial" EXACT [] synonym: "patent ductus botalli" EXACT [] synonym: "PDA" EXACT [] synonym: "PDA1" EXACT [] xref: GARD:7342 xref: ICD10CM:Q25.0 xref: ICD9CM:747.0 xref: MESH:D004374 xref: MIM:PS607411 xref: NCI:C84492 xref: ORDO:95485 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:13839 name: extrapyramidal and movement disease xref: ICD10CM:G25.9 xref: ICD9CM:333.90 xref: RDO:9004048 is_a: DOID:480 ! movement disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:1386 name: abetalipoproteinemia alt_id: MIM:200100 def: "A hypolipoproteinemia that is characterized by an inability to fully absorb dietary fats, cholesterol and fat-soluble vitamins, has_material_basis_in an autosomal recessive disorder of lipid metabolism that has_material_basis_in mutation in the microsomal triglyceride transfer protein that catalyzes the transport of lipids and is required in the secretion of BETA-LIPOPROTEINS. (DO)" [http://en.wikipedia.org/wiki/Abetalipoproteinemia "DO", http://rarediseases.info.nih.gov/gard/5/abetalipoproteinemia/resources/1 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=14 "DO"] synonym: "ABL" EXACT [] synonym: "acanthocytoses" EXACT [] synonym: "acanthocytosis" EXACT [] synonym: "Bassen Kornzweig Disease" EXACT [] synonym: "Bassen Kornzweig Syndrome" EXACT [] synonym: "Betalipoprotein Deficiency Disease" EXACT [] synonym: "betalipoprotein deficiency diseases" EXACT [] synonym: "microsomal triglyceride transfer protein deficiency" EXACT [] synonym: "microsomal triglyceride transfer protein deficiency disease" EXACT [] synonym: "MTP deficiency" EXACT [] synonym: "MTTP-RELATED CONDITION" EXACT [] xref: GARD:5 xref: MESH:D000012 xref: NCI:C84525 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1387 ! hypolipoproteinemia is_a: DOID:1390 ! hypobetalipoproteinemia [Term] id: DOID:13861 name: scleroperikeratitis def: "A scleritis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Scleroperikeratitis may progress to sclerosing keratitis, which occurs when the inflammation leads to opacification of the anterior corneal stroma and subsequent vision loss. Scleroperikeratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. (DO)" [https://www.wikidata.org/wiki/Q18554619 "DO"] synonym: "scleritis with corneal involvement" EXACT [] xref: ICD10CM:H15.04 xref: ICD9CM:379.05 is_a: DOID:13452 ! scleritis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13862 name: acute closed-angle glaucoma def: "A primary angle-closure glaucoma characterized by acute closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes suddenly inappropriately elevated threatening further optic nerve damage and visual field loss. Acute closed-angle glaucoma has_symptom sudden pain, redness, headache, and blurry vision with haloes around lights. Acute closed-angle glaucoma can be caused by exacerbation of chronic primary angle-closure glaucoma, typically by a medication or state that dilates the eyes and thus narrows the anterior chamber angle, blocking any aqueous outflow. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO"] synonym: "acute angle-closure glaucoma" EXACT [] xref: ICD10CM:H40.21 xref: ICD9CM:365.22 is_a: DOID:1405 ! primary angle-closure glaucoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:13864 name: trochlear nerve disease def: "Diseases of the fourth cranial (trochlear) nerve or its nucleus in the midbrain. The nerve crosses as it exits the midbrain dorsally and may be injured along its course through the intracranial space, cavernous sinus, superior orbital fissure, or orbit. Clinical manifestations include weakness of the superior oblique muscle which causes vertical DIPLOPIA that is maximal when the affected eye is adducted and directed inferiorly. Head tilt may be seen as a compensatory mechanism for diplopia and rotation of the visual axis. Common etiologies include CRANIOCEREBRAL TRAUMA and INFRATENTORIAL NEOPLASMS." [MESH:D020432] synonym: "cranial nerve IV diseases" EXACT [] synonym: "disorder of trochlear nerve" EXACT [] synonym: "Fourth Cranial Nerve Diseases" EXACT [] synonym: "Neurogenic Superior Oblique Palsy" EXACT [] synonym: "superior oblique muscle innervation disorder" EXACT [] synonym: "Superior Oblique Myokymia" EXACT [] synonym: "Superior Oblique Myokymias" EXACT [] synonym: "trochlear nerve diseases" EXACT [] synonym: "Trochlear Nerve Disorder" EXACT [] synonym: "Trochlear Nerve Disorders" EXACT [] synonym: "Trochlear Neuropathies" EXACT [] synonym: "trochlear neuropathy" EXACT [] xref: EFO:1001220 xref: ICD10CM:H49.1 xref: ICD9CM:378.53 xref: MESH:D020432 xref: NCI:C180994 xref: NCI:C78395 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:13865 name: facial neuralgia def: "Neuralgic syndromes which feature chronic or recurrent FACIAL PAIN as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions." [MESH:D005156] synonym: "Craniofacial Pain Syndrome" EXACT [] synonym: "craniofacial pain syndromes" EXACT [] synonym: "Facial Neuralgias" EXACT [] synonym: "Facial Pain Syndrome" EXACT [] synonym: "Facial Pain Syndromes" EXACT [] synonym: "Myofacial Pain Syndrome" EXACT [] synonym: "Myofacial Pain Syndromes" EXACT [] synonym: "Sphenopalatine Neuralgia" EXACT [] synonym: "sphenopalatine neuralgias" EXACT [] xref: EFO:0009380 xref: MESH:D005156 is_a: DOID:1756 ! facial nerve disease [Term] id: DOID:13866 name: multiple cranial nerve palsy synonym: "multiple cranial nerve palsies" EXACT [] xref: ICD10CM:G52.7 xref: ICD9CM:352.6 is_a: DOID:3418 ! glossopharyngeal nerve disease created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:13867 name: focal labyrinthitis def: "A labyrinthitis which is an infectious inflammatory disease of a circumscribed area of either the vestibular or the cochlear portion of the labyrinth, or of both together. This is caused by a chronic suppurative otitis media, mastoiditis, or cholesteatoma. (DO)" [http://books.google.com/books?id=K6IRAAAAYAAJ&pg=PA934&lpg#v=onepage&q=&f=false "DO"] synonym: "circumscribed labyrinthitis" EXACT [] xref: ICD9CM:386.32 is_a: DOID:1468 ! labyrinthitis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:13868 name: hypoactive sexual desire disorder def: "Lack or loss of sexual desire." [] synonym: "Lack or loss of sexual desire" EXACT [SNOMEDCT_2005_07_31:192464008] xref: ICD10CM:F52.0 xref: ICD9CM:302.71 xref: NCI:C94337 xref: RDO:9003227 is_a: DOID:10132 ! psychosexual disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:1387 name: hypolipoproteinemia def: "A lipid metabolism disorder that is characterized by unusually low levels of fats in the blood. (DO)" [https://en.wikipedia.org/wiki/Hypolipoproteinemia "DO", https://rarediseases.info.nih.gov/diseases/8394/hypolipoproteinemia "DO"] synonym: "hypolipoproteinaemia" EXACT [] synonym: "hypolipoproteinemias" EXACT [] synonym: "hypoprebetalipoproteinemia" EXACT [] synonym: "liipoprotein deficiencies" RELATED [] synonym: "Lipoprotein deficiencies" RELATED [] xref: GARD:8394 xref: ICD9CM:272.5 xref: MESH:D007009 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9003370 ! Dyslipidemias [Term] id: DOID:1388 name: Tangier disease alt_id: MIM:205400 def: "A hypolipoproteinemia that is characterized by markedly reduced levels of plasma high density lipoproteins resulting in tissue accumulation of cholesterol esters and that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA1 gene on chromosome 9q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10431236/ "DO"] synonym: "A-alphalipoprotein neuropathies" EXACT [] synonym: "A-alphalipoprotein Neuropathy" EXACT [] synonym: "ABCA1 POLYMORPHISM" RELATED [] synonym: "ABCA1-RELATED DISORDER" BROAD [] synonym: "Alpha High Density Lipoprotein Deficiency Disease" EXACT [] synonym: "analphalipoproteinemia" EXACT [] synonym: "Analphalipoproteinemias" EXACT [] synonym: "Cholesterol Thesaurismoses" EXACT [] synonym: "Cholesterol Thesaurismosis" EXACT [] synonym: "familial alpha-lipoprotein deficiency" EXACT [] synonym: "familial high density lipoprotein deficiency" EXACT [] synonym: "familial hypoalphalipoproteinemia" EXACT [] synonym: "HDLDT1" EXACT [] synonym: "High Density Lipoprotein Deficiency, Tangier Type" EXACT [] synonym: "High Density Lipoprotein Deficiency, Type 1" EXACT [] synonym: "High Density Lipoprotein Deficiency, Type I" EXACT [] synonym: "Neuropathy of Tangier Disease" EXACT [] synonym: "Tangier disease neuropathy" EXACT [] synonym: "Tangier hereditary neuropathy" EXACT [] synonym: "TGD" EXACT [] xref: GARD:7731 xref: MESH:D013631 xref: NCI:C85182 xref: ORDO:31150 is_a: DOID:1389 ! polyneuropathy is_a: DOID:9002117 ! Hypoalphalipoproteinemias [Term] id: DOID:13884 name: sick sinus syndrome def: "A condition caused by dysfunctions related to the SINOATRIAL NODE including impulse generation (CARDIAC SINUS ARREST) and impulse conduction (SINOATRIAL EXIT BLOCK). It is characterized by persistent BRADYCARDIA, chronic ATRIAL FIBRILLATION, and failure to resume sinus rhythm following CARDIOVERSION. This syndrome can be congenital or acquired, particularly after surgical correction for heart defects." [MESH:D012804] synonym: "Dysfunctions, Sinus Node" EXACT [] synonym: "Sick Sinus Node Syndrome" EXACT [] synonym: "Sinus Node Disease" EXACT [] synonym: "Sinus Node Diseases" EXACT [] synonym: "Sinus Node Dysfunction" EXACT [] synonym: "sinus node infection" EXACT [] xref: EFO:0004275 xref: ICD10CM:I49.5 xref: MESH:D012804 xref: MIM:PS608567 xref: MONDO:0001823 xref: NCI:C62243 xref: NCI:C62244 xref: ORDO:166282 is_a: DOID:0050824 ! sinoatrial node disease is_a: DOID:225 ! syndrome is_a: DOID:9002907 ! Sinus Arrhythmia is_a: DOID:9003163 ! Heart Block [Term] id: DOID:1389 name: polyneuropathy alt_id: OMIA:001292 def: "A peripheral system disease that is characterized by damage affecting peripheral nerves (peripheral neuropathy) in roughly the same areas on both sides of the body, featuring weakness, numbness, pins-and-needles, and burning pain. (DO)" [https://en.wikipedia.org/wiki/Polyneuropathy "DO", https://www.virginiamason.org/polyneuropathy "DO"] synonym: "acquired polyneuropathies" EXACT [] synonym: "Acquired Polyneuropathy" EXACT [] synonym: "critical illness polyneuropathies" EXACT [] synonym: "Critical Illness Polyneuropathy" EXACT [] synonym: "Familial Polyneuropathies" EXACT [] synonym: "Familial Polyneuropathy" EXACT [] synonym: "Inherited Polyneuropathies" EXACT [] synonym: "Inherited Polyneuropathy" EXACT [] synonym: "motor polyneuropathies" EXACT [] synonym: "motor polyneuropathy" EXACT [] synonym: "multifocal motor neuropathy" EXACT [] synonym: "polyneuropathies" EXACT [] xref: EFO:0009562 xref: MESH:D011115 xref: NCI:C26951 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:13891 name: bird fancier's lung def: "An extrinsic allergic alveolitis which is caused by inhalation of antigens from avian excreta. The disease has_symptom abrupt onset of dyspnea, has_symptom cough, has_symptom malaise, and has_symptom fever, after exposure to antigen. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1841781/pdf/brmedj02140-0025.pdf "DO"] synonym: "avian hypersensitivity pneumonitides" EXACT [] synonym: "Avian Hypersensitivity Pneumonitis" EXACT [] synonym: "bird breeder's lung" EXACT [] synonym: "Bird Fancier's Lungs" EXACT [] synonym: "Bird Fancier Lung" EXACT [] synonym: "Bird Fanciers Lung" EXACT [] synonym: "Budgerigar Fancier's Lung" EXACT [] synonym: "Budgerigar Fancier's Lungs" EXACT [] synonym: "Budgerigar Fancier Lung" EXACT [] synonym: "Budgerigar Fanciers Lung" EXACT [] synonym: "Pigeon Breeder's Lung" EXACT [] synonym: "Pigeon Breeder Lung" EXACT [] synonym: "pigeon breeders lung" EXACT [] synonym: "poultry worker's lung" EXACT [] xref: EFO:0007170 xref: ICD10CM:J67.2 xref: ICD9CM:495.2 xref: MESH:D001716 xref: NCI:C34425 is_a: DOID:841 ! extrinsic allergic alveolitis is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:139 name: squamous cell papilloma synonym: "EFO:1001970" EXACT [] synonym: "epidermoid papilloma" EXACT [] synonym: "squamous cell papillomas" EXACT [] xref: EFO:1001970 xref: ICDO:8052/0 xref: NCI:C3712 xref: RDO:9003790 is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1390 name: hypobetalipoproteinemia def: "A hypolipoproteinemia characterized by permanently low levels of apolipoprotein B and LDL cholesterol resulting from an impaired ability to absorb and transport fats. (DO)" [https://en.wikipedia.org/wiki/Hypobetalipoproteinemia "DO", https://ghr.nlm.nih.gov/condition/familial-hypobetalipoproteinemia "DO", https://www.ncbi.nlm.nih.gov/pubmed/15818469 "DO"] synonym: "familial hypobetalipoproteinemia" EXACT [] synonym: "FHBL" EXACT [] synonym: "hypo beta lipoproteinemia" EXACT [] synonym: "hypo beta lipoproteinemias" EXACT [] synonym: "hypobetalipoproteinemias" EXACT [] xref: MESH:D006995 is_a: DOID:1387 ! hypolipoproteinemia [Term] id: DOID:13902 name: white piedra def: "A superficial mycosis that is a superficial fungal infection of the hair shaft caused by Trichosporon beigelii. Infected hairs develop soft greyish-white nodules along the shaft. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Superficial/White_piedra/ "DO"] synonym: "tinea blanca" EXACT [] xref: ICD10CM:B36.2 xref: ICD9CM:111.2 is_a: DOID:0050133 ! superficial mycosis [Term] id: DOID:13909 name: red-green color blindness synonym: "CBD" EXACT [] synonym: "DCB" EXACT [] synonym: "deutan colorblindness" EXACT [] synonym: "deutan defect" EXACT [] synonym: "deuteranopia" EXACT [] synonym: "Partial Colorblindness, Deutan Series" EXACT [] synonym: "reduced red-green discrimination" EXACT [] xref: EFO:0005581 xref: ICD9CM:368.52 xref: MIM:303800 xref: ORDO:319698 is_a: DOID:13399 ! color blindness [Term] id: DOID:1391 name: Norum disease alt_id: MIM:136120 alt_id: MIM:245900 def: "An autosomal recessive disorder of lipoprotein metabolism caused by mutation of LECITHIN CHOLESTEROL ACYLTRANSFERASE gene. It is characterized by low HDL-cholesterol levels, and the triad of CORNEAL OPACITIES; HEMOLYTIC ANEMIA; and PROTEINURIA with renal failure." [MESH:D007863] synonym: "alpha LCAT deficiency" EXACT [] synonym: "alpha Lecithin Cholesterol Acyltransferase Deficiency" EXACT [] synonym: "APOLIPOPROTEIN A-I (GIESSEN)" RELATED [] synonym: "dyslipoproteinemic corneal dystrophy" EXACT [] synonym: "FED" EXACT [] synonym: "Fish Eye Disease" EXACT [] synonym: "LCATA Deficiencies" EXACT [] synonym: "LCATA Deficiency" EXACT [] synonym: "LCAT deficiency" EXACT [] synonym: "LCAT-RELATED CONDITION" EXACT [] synonym: "lecithin acyltransferase deficiency" EXACT [] synonym: "lecithin cholesterol acyltransferase deficiency" EXACT [] xref: ICD10CM:E78.6 xref: MESH:D007863 xref: NCI:C84813 is_a: DOID:1387 ! hypolipoproteinemia is_a: DOID:9002117 ! Hypoalphalipoproteinemias [Term] id: DOID:13910 name: red color blindness synonym: "CBP" EXACT [] synonym: "EFO:0005580" EXACT [] synonym: "partial colorblindness, protan series" EXACT [] synonym: "protan defect" EXACT [] synonym: "protanomaly" RELATED [] synonym: "protanopia" EXACT [] xref: EFO:0005580 xref: ICD9CM:368.51 xref: MIM:303900 xref: MONDO:0010565 is_a: DOID:13399 ! color blindness [Term] id: DOID:13911 name: achromatopsia def: "A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. (DO)" [http://en.wikipedia.org/wiki/Achromatopsia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1418/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=49382 "DO", http://www.sciencedirect.com/science/article/pii/S0161642009010008 "DO"] synonym: "ACHM" EXACT [] synonym: "monochromatism" EXACT [MTHICD9_2006:368.54] xref: ICD10CM:H53.51 xref: ICD9CM:368.54 xref: NCI:C84528 xref: ORDO:49382 xref: RDO:9004252 is_a: DOID:13399 ! color blindness created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:13912 name: acquired color blindness synonym: "acquired color vision deficiencies" EXACT [] synonym: "acquired color vision deficiency" EXACT [] synonym: "acquired colour blindness" EXACT [] synonym: "acquired colour vision deficiencies" EXACT [] synonym: "acquired colour vision deficiency" EXACT [] xref: ICD10CM:H53.52 xref: ICD9CM:368.55 xref: NCI:C118712 is_a: DOID:13399 ! color blindness created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:13913 name: lumbosacral plexus lesion synonym: "lumbosacral plexus lesions" EXACT [] xref: ICD9CM:353.1 is_a: DOID:574 ! peripheral nervous system disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13918 name: somatization disorder def: "A somatoform disorder that involves persistently complaints of varied physical symptoms that have no identifiable physical origin. (DO)" [http://en.wikipedia.org/wiki/Somatization_disorder, http://en.wikipedia.org/wiki/Somatization_disorder "DO"] synonym: "Briquet's disorder" EXACT [MTHICD9_2006:300.81] synonym: "polysomatising disorder" RELATED [SNOMEDCT_2005_07_31:397795007] synonym: "somatisation disorder" EXACT [SNOMEDCT_2005_07_31:192431008] synonym: "somatization disorders" EXACT [] xref: ICD10CM:F45.0 xref: ICD9CM:300.81 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:13919 name: irregular astigmatism xref: ICD10CM:H52.21 xref: ICD9CM:367.22 is_a: DOID:11782 ! astigmatism created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:1392 name: pseudopapilledema alt_id: MIM:177800 xref: ICD9CM:377.24 xref: MESH:C562401 is_a: DOID:1393 ! visual pathway disease is_a: DOID:1891 ! optic nerve disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:13921 name: bacterial esophagitis xref: NCI:C27106 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:11963 ! esophagitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13922 name: eosinophilic esophagitis alt_id: MIM:610247 alt_id: MIM:613412 def: "An esophagitis characterized by inflammation involving eosinophils located_in esophagus. (DO)" [http://en.wikipedia.org/wiki/Eosinophilic_esophagitis "DO"] synonym: "childhood eosinophilic esophagitis" NARROW [] synonym: "EE" EXACT [] synonym: "EOE1" EXACT [] synonym: "EOE2" EXACT [] synonym: "Eosinophilic Chronic Esophagitides" EXACT [] synonym: "Eosinophilic Chronic Esophagitis" EXACT [] synonym: "Eosinophilic Esophagitides" EXACT [] synonym: "eosinophilic esophagitis 1" EXACT [] synonym: "eosinophilic esophagitis 2" EXACT [] synonym: "esophageal eosinophilia" EXACT [] synonym: "pediatric eosinophilic esophagitis" NARROW [] xref: EFO:0004232 xref: EFO:0004594 xref: ICD10CM:K20.0 xref: ICD9CM:530.13 xref: MESH:D057765 xref: NCI:C27105 xref: ORDO:73247 is_a: DOID:11963 ! esophagitis is_a: DOID:9001371 ! Eosinophilia is_a: DOID:9002850 ! Immediate Hypersensitivity [Term] id: DOID:13924 name: necrotizing ulcerative gingivitis def: "An acute or chronic GINGIVITIS characterized by redness and swelling, NECROSIS extending from the interdental papillae along the gingival margins, PAIN; HEMORRHAGE, necrotic odor, and often a pseudomembrane. The condition may extend to the ORAL MUCOSA; TONGUE; PALATE; or PHARYNX. The etiology is somewhat unclear, but may involve a complex of FUSOBACTERIUM NUCLEATUM along with spirochetes BORRELIA or TREPONEMA." [] synonym: "acute membranous gingivitides" EXACT [] synonym: "Acute Membranous Gingivitis" EXACT [] synonym: "acute necrotising ulcerative gingivitis" EXACT [] synonym: "acute necrotising ulcerative gingivostomatitis" EXACT [] synonym: "Acute Necrotizing Ulcerative Gingivitis" EXACT [] synonym: "acute necrotizing ulcerative gingivostomatitis" EXACT [] synonym: "acute ulceromembranous gingivitis" EXACT [] synonym: "Angina - Vincents" EXACT [] synonym: "ANUG" EXACT [] synonym: "early acute necrotising gingivitis" EXACT [] synonym: "Fusospirillary gingivitides" EXACT [] synonym: "Fusospirillary Gingivitis" EXACT [] synonym: "Fusospirilloses" EXACT [] synonym: "Fusospirillosis" EXACT [] synonym: "Phagedenic Gingivitides" EXACT [] synonym: "Phagedenic Gingivitis" EXACT [] synonym: "Trench Mouth" EXACT [] synonym: "Vincent's angina" EXACT [] synonym: "Vincent's angina - pharyngitis" EXACT [] synonym: "Vincent's disease" EXACT [] synonym: "Vincent's Gingivitis" EXACT [] synonym: "Vincent's Infection" EXACT [] synonym: "Vincent's infection, any site" EXACT [] synonym: "Vincent's stomatitis" EXACT [] synonym: "Vincent Angina" EXACT [] synonym: "Vincent anginas" EXACT [] synonym: "Vincent Gingivitis" EXACT [] synonym: "Vincent Infection" EXACT [] synonym: "Vincents Gingivitis" EXACT [] synonym: "Vincents Infection" EXACT [] synonym: "Vincents stomatitis" EXACT [] synonym: "Vincent stomatitis" EXACT [] xref: EFO:1001058 xref: GARD:5736 xref: ICD10CM:A69.1 xref: ICD9CM:101 xref: MESH:D005892 xref: MONDO:0006865 xref: NCI:C34637 is_a: DOID:3087 ! gingivitis is_a: DOID:9001724 ! Fusobacterium Infections [Term] id: DOID:13929 name: lacrimal duct obstruction alt_id: MIM:149700 def: "Interference with the secretion of tears by the lacrimal glands. Obstruction of the LACRIMAL SAC or NASOLACRIMAL DUCT causing acute or chronic inflammation of the lacrimal sac (DACRYOCYSTITIS). It is caused also in infants by failure of the nasolacrimal duct to open into the inferior meatus and occurs about the third week of life. In adults occlusion may occur spontaneously or after injury or nasal disease. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p250)" [MESH:D007767] synonym: "blocked lacrimal canaliculus" EXACT [] synonym: "lacrimal duct defect" EXACT [] synonym: "Lacrimal Duct Obstructions" EXACT [] synonym: "LCDD" EXACT [] synonym: "NASOLACRIMAL DUCT OBSTRUCTION" EXACT [] synonym: "obstruction of lacrimal canaliculus" EXACT [] synonym: "obstruction of lacrimal ducts" EXACT [] synonym: "Tear Duct Obstruction" EXACT [] synonym: "tear duct obstructions" EXACT [] xref: MESH:D007767 xref: NCI:C34757 is_a: DOID:1400 ! lacrimal apparatus disease [Term] id: DOID:1393 name: visual pathway disease def: "An eye disease that affects the neural pathway from the optic nerve to the visual cortex, through which light is interpreted as an image. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C35342 "DO"] xref: ICD10CM:H47.9 xref: NCI:C35342 xref: RDO:9002702 is_a: DOID:5614 ! eye disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13934 name: facial paralysis def: "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. FACIAL NERVE DISEASES generally results in generalized hemifacial weakness. NEUROMUSCULAR JUNCTION DISEASES and MUSCULAR DISEASES may also cause facial paralysis or paresis." [MESH:D005158] synonym: "central facial paralyses" EXACT [] synonym: "Central Facial Paralysis" EXACT [] synonym: "facial palsies" EXACT [] synonym: "Facial Palsy" EXACT [] synonym: "Facial Paralyses, Peripheral" EXACT [] synonym: "Facial Paresis" EXACT [] synonym: "Hemifacial Paralysis" EXACT [] synonym: "Lower Motor Neuron Facial Palsy" EXACT [] synonym: "Paralyses, Facial" EXACT [] synonym: "Paralyses, Hemifacial" EXACT [] synonym: "Pareses, Facial" EXACT [] synonym: "peripheral facial paralysis" EXACT [] synonym: "upper motor neuron facial palsy" EXACT [] xref: ICD10CM:G51.0 xref: MESH:D005158 xref: NCI:C26769 is_a: DOID:1756 ! facial nerve disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:13938 name: amenorrhea def: "A female reproductive system disease that is characterized by the absence of menstruation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23939500 "DO"] synonym: "absence of menstruation" EXACT [] synonym: "amenia" EXACT [] synonym: "postpartum amenorrhea" EXACT [] synonym: "postpartum amenorrheas" EXACT [] synonym: "primary amenorrhea" EXACT [] xref: EFO:0010269 xref: ICD10CM:N91.2 xref: ICD9CM:626.0 xref: MESH:D000568 xref: NCI:C61443 is_a: DOID:229 ! female reproductive system disease is_a: DOID:9004918 ! Menstruation Disturbances [Term] id: DOID:1394 name: urinary schistosomiasis def: "A schistosomiasis that involves parasitic infection of the urinary tract caused by a digenetic trematode Schistosoma haematobium causing cystitis, ureteritis, fibrosis of the bladder and haematuria, which can progress to bladder cancer. (DO)" [http://en.wikipedia.org/wiki/Schistosoma_haematobium "DO", http://www.dpd.cdc.gov/dpdx/HTML/Schistosomiasis.htm "DO"] synonym: "bladder schistosomiasis" EXACT [] synonym: "cystitis with bilharziasis" EXACT [] synonym: "schistosoma haematobium" EXACT [] synonym: "Schistosoma haematobium infection" RELATED [] synonym: "schistosoma hematobium infection" EXACT [] synonym: "Schistosoma hematobium infectious disease" EXACT [] synonym: "schistosomiasis due to schistosoma haematobium" EXACT [] synonym: "Schistosomiasis Haematobia" EXACT [] synonym: "Schistosomiasis haematobium" EXACT [] synonym: "schistosomiasis of bladder" EXACT [] synonym: "Urinary Schistosomiases" EXACT [] synonym: "Urogenital Schistosomiases" EXACT [] synonym: "Urogenital Schistosomiasis" EXACT [] synonym: "vesical schistosomiasis" EXACT [] xref: EFO:0007530 xref: ICD9CM:120.0 xref: MESH:D012553 xref: NCI:C35362 xref: NCI:C39294 is_a: DOID:0080784 ! urinary tract infection is_a: DOID:1395 ! schistosomiasis is_a: DOID:365 ! bladder disease [Term] id: DOID:13941 name: benign paroxysmal positional vertigo def: "A peripheral vertigo that is characterized by episodic vertigo followed by gait imbalance and oscillopsia with profound bilateral vestibular loss despite normal hearing. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8290084/ "DO"] synonym: "benign paroxysmal positional nystagmus" EXACT [] synonym: "benign recurrent vertigo" EXACT [] synonym: "benign recurrent vertigos" EXACT [] synonym: "BPPV" EXACT [] synonym: "BRV" EXACT [] synonym: "Familial Benign Recurrent Vertigo" EXACT [] synonym: "Familial Vestibulopathies" EXACT [] synonym: "Familial Vestibulopathy" EXACT [] xref: GARD:5915 xref: ICD9CM:386.11 xref: MESH:D065635 is_a: DOID:9847 ! peripheral vertigo [Term] id: DOID:13942 name: acute gonococcal salpingitis synonym: "gonococcal salpingitis, specified as acute" EXACT [] xref: ICD9CM:098.17 is_a: DOID:10973 ! acute salpingitis is_a: DOID:9008538 ! Neisseriaceae Infections created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:13943 name: acute gonococcal prostatitis synonym: "gonococcal prostatitis" EXACT [] xref: ICD9CM:098.12 is_a: DOID:14654 ! prostatitis is_a: DOID:7551 ! gonorrhea created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:13945 name: CADASIL def: "A leukodystrophy characterized by recurrent subcortical ischemic stroke and cognitive impairment. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10476042 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8878478 "DO"] synonym: "CADASILM" EXACT [] synonym: "CASIL" EXACT [] synonym: "cerebral arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [] synonym: "cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy" EXACT [] synonym: "hereditary dementia, multi infarct type" EXACT [] synonym: "hereditary multi-infarct dementia" EXACT [] xref: GARD:1049 xref: ICD10CM:I67.850 xref: MESH:D046589 xref: MIM:PS125310 xref: NCI:C84606 xref: ORDO:136 is_a: DOID:10579 ! leukodystrophy is_a: DOID:3527 ! cerebral arterial disease is_a: DOID:630 ! genetic disease is_a: DOID:8725 ! vascular dementia [Term] id: DOID:13948 name: bladder neck obstruction alt_id: RDO:0005014 def: "Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands." [MESH:D001748] synonym: "Bladder Outlet Obstruction" EXACT [] synonym: "Obstruction of bladder neck or vesicourethral orifice" EXACT [MTHICD9_2006:596.0] synonym: "urinary bladder neck obstruction" EXACT [] xref: EFO:1000840 xref: ICD10CM:N32.0 xref: ICD9CM:596.0 xref: MESH:D001748 xref: NCI:C79541 is_a: DOID:12577 ! urethral obstruction is_a: DOID:365 ! bladder disease is_a: DOID:5200 ! urinary tract obstruction [Term] id: DOID:13949 name: interstitial cystitis def: "A condition with recurring discomfort or pain in the URINARY BLADDER and the surrounding pelvic region without an identifiable disease. Severity of pain in interstitial cystitis varies greatly and often is accompanied by increased urination frequency and urgency." [MESH:D018856] synonym: "interstitial cystitides" EXACT [] synonym: "painful bladder syndrome" EXACT [] synonym: "ulcerative cystitis" EXACT [] xref: EFO:0008507 xref: GARD:6787 xref: MESH:D018856 xref: NCI:C27189 is_a: DOID:1679 ! cystitis [Term] id: DOID:1395 name: schistosomiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine, urinary tract, skin, liver and spleen caused by multiple species of the trematode fluke of the genus Schistosoma. The symptoms include fever, chills, nausea, abdominal pain, diarrhea, malaise, myalgia, liver and spleen enlargement, rash and hematuria. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001321.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=schistosomiasis "DO"] synonym: "bilharziases" EXACT [] synonym: "Bilharziasis" EXACT [] synonym: "Katayama Fever" EXACT [] synonym: "schistosomiases" EXACT [] xref: EFO:1001475 xref: GARD:9687 xref: ICD9CM:120.8 xref: MESH:D012552 is_a: DOID:888 ! fasciolopsiasis [Term] id: DOID:13951 name: uterine corpus epithelioid leiomyoma def: "An uterine fibroid that is characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm as well as the absence of prominent nuclear atypia, tumor cell necrosis and mitotic figures. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html#epithelioid "DO"] xref: NCI:C40164 is_a: DOID:13223 ! uterine fibroid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13953 name: uterine corpus dissecting leiomyoma def: "A uterine fibroid that is characterized by the presence of intramural tearing. (DO)" [http://www.turkjpath.org/text.php3?doi=10.5146/tjpath.2011.01085 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23370645 "DO"] xref: NCI:C40172 is_a: DOID:13223 ! uterine fibroid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13955 name: uterus interstitial leiomyoma def: "An uterine fibroid that is located within the myometrium. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html "DO"] synonym: "intramural leiomyoma of uterus" EXACT [] xref: ICD10CM:D25.1 xref: ICD9CM:218.1 is_a: DOID:13223 ! uterine fibroid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13956 name: uterine corpus myxoid leiomyoma def: "An uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels, but do no infiltrative and the absence of atypia or mitotic activity. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomamyxoid.html "DO"] xref: NCI:C40166 is_a: DOID:13223 ! uterine fibroid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:13957 name: uterine corpus lipoleiomyoma def: "An uterine fibroid that is characterized by the presence of adipocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299967/ "DO"] xref: EFO:1000614 xref: NCI:C40168 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:13223 ! uterine fibroid is_a: DOID:4386 ! myofibroma is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:13958 name: uterine corpus bizarre leiomyoma def: "An uterine benign neoplasm that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures and has_material_basis_in smooth muscle cells. (DO)" [http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html "DO"] synonym: "uterine corpus symplastic leiomyoma" EXACT [] xref: NCI:C40167 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:5127 ! bizarre leiomyoma [Term] id: DOID:13963 name: nuclear senile cataract def: "A senile cataract that is characterized by opacification of the lens nucleus and caused by changes related to aging. (DO)" [https://en.wikipedia.org/wiki/Cataract "DO"] synonym: "Senile nuclear sclerosis" EXACT [ICD9CM_2006:366.16] xref: ICD9CM:366.16 xref: RDO:9004350 is_a: DOID:9669 ! senile cataract created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:13964 name: Morgagni cataract def: "A senile cataract that is characterized by dense white opacification of the lens and milky fluid in the lens capsule such that the dense nucleus of the lens sinks in the surrounding fluid. It is the late stage of senile cataracts and is caused by a multifactorial etiology related to aging. (DO)" [https://eyewiki.aao.org/Morgagnian_Cataract "DO"] synonym: "hypermature cataract" EXACT [] xref: ICD9CM:366.18 xref: RDO:9004351 is_a: DOID:9669 ! senile cataract created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:1397 name: chronic orbital inflammation synonym: "chronic inflammation of orbit" EXACT [] xref: ICD10CM:H05.1 xref: ICD9CM:376.1 xref: RDO:9003000 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:13972 name: female breast lower-outer quadrant cancer def: "A female breast cancer that is located_in the lower-outer qudrant of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ "DO"] synonym: "malignant neoplasm of lower-outer quadrant of female breast" EXACT [] xref: ICD10CM:C50.51 xref: ICD9CM:174.5 xref: RDO:9001786 is_a: DOID:0050671 ! female breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:13976 name: peptic esophagitis def: "INFLAMMATION of the ESOPHAGUS that is caused by the reflux of GASTRIC JUICE with contents of the STOMACH and DUODENUM." [MESH:D004942] synonym: "Peptic Esophagitides" EXACT [] synonym: "peptic reflux disease" EXACT [] synonym: "Reflux Esophagitides" EXACT [] synonym: "Reflux Esophagitis" EXACT [] synonym: "reflux oesophagitis" EXACT [] xref: EFO:1001095 xref: ICD9CM:530.11 xref: MESH:D004942 is_a: DOID:11963 ! esophagitis is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:1398 name: parasitic infectious disease def: "A disease by infectious agent that is carried out by a parasite which by definition is a pathogen that simultaneously injures and derives sustenance from its host. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4071 "DO"] subset: RGD_JBrowse_slim synonym: "ectoparasitic disease" EXACT [] synonym: "parasite infection" EXACT [] synonym: "parasite infections" EXACT [] synonym: "parasitemia" EXACT [] synonym: "Parasitic Disease" EXACT [] synonym: "Parasitic Diseases" EXACT [] synonym: "parasitic infection" EXACT [] synonym: "parasitic infections" EXACT [] xref: EFO:0001067 xref: ICD10CM:H44.12 xref: ICD9CM:360.13 xref: MESH:D010272 xref: NCI:C34587 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:1399 name: primary lacrimal atrophy xref: ICD9CM:375.13 is_a: DOID:1400 ! lacrimal apparatus disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13994 name: cleidocranial dysplasia alt_id: MIM:119600 def: "An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. (DO)" [http://en.wikipedia.org/wiki/Cleidocranial_dysostosis "DO", http://ghr.nlm.nih.gov/condition/cleidocranial-dysplasia "DO", http://www.healthline.com/galecontent/cleidocranial-dysplasia-1 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001589.htm "DO", https://www.faces-cranio.org/cleidocranial "DO"] synonym: "CCD" EXACT [] synonym: "CLCD1" EXACT [] synonym: "cleidocranial digital dysostoses" EXACT [] synonym: "cleidocranial digital dysostosis" EXACT [] synonym: "cleidocranial dysostoses" EXACT [] synonym: "cleidocranial dysostosis" EXACT [] synonym: "cleidocranial dysplasia 1" EXACT [] synonym: "cleidocranial dysplasia 1, forme fruste, dental anomalies only" NARROW [] synonym: "cleidocranial dysplasia 1, forme fruste, with brachydactyly" NARROW [] synonym: "CLEIDOCRANIAL DYSPLASIA, FORME FRUSTE" NARROW [] synonym: "cleidocranial dysplasias" EXACT [] synonym: "LARGE FONTANELLES" NARROW [] synonym: "Marie-Sainton disease" EXACT [] synonym: "Marie Sainton syndrome" EXACT [] synonym: "RUNX2-RELATED CONDITION" BROAD [] synonym: "Scheuthauer Marie Sainton syndrome" EXACT [] synonym: "severe cleidocranial dysplasia with osteoporosis and scoliosis" NARROW [] xref: EFO:0004153 xref: GARD:6118 xref: ICD10CM:Q74.0 xref: MESH:D002973 xref: MONDO:0007340 xref: NCI:C75020 xref: ORDO:1452 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:13996 name: small intestine lymphoma synonym: "small intestinal lymphoma" EXACT [] xref: NCI:C4007 is_a: DOID:10154 ! small intestine cancer is_a: DOID:903 ! gastrointestinal lymphoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:13999 name: contact blepharoconjunctivitis xref: ICD10CM:H10.53 xref: ICD9CM:372.22 xref: RDO:9003495 is_a: DOID:2456 ! blepharoconjunctivitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1400 name: lacrimal apparatus disease def: "An eye disease that affects the lacrimal apparatus (the lacrimal gland and its related structures) which moisten and drain the eye. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26809 "DO"] synonym: "lacrimal apparatus diseases" EXACT [] xref: EFO:0009455 xref: ICD10CM:H04 xref: ICD9CM:375 xref: MESH:D007766 xref: NCI:C26809 is_a: DOID:5614 ! eye disease [Term] id: DOID:14000 name: rubeosis iridis xref: ICD10CM:H21.1 xref: ICD9CM:364.42 is_a: DOID:5679 ! retinal disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:14004 name: thoracic aortic aneurysm def: "An aortic aneurysm that is located_in the thoracic aorta. (DO)" [http://en.wikipedia.org/wiki/Aortic_aneurysm "DO", http://en.wikipedia.org/wiki/Thoracic_aortic_aneurysm "DO"] synonym: "dilatation of the sinus of Valsalva" NARROW [] synonym: "ISOLATED THORACIC AORTIC ANEURYSM" NARROW [] synonym: "thoracic aortic aneurysm and aortic dissection" EXACT [] synonym: "Thoracic Aortic Aneurysms" EXACT [] synonym: "Thoracic Aortic Aneurysms and Aortic Dissections" EXACT [] synonym: "Thoracic Aortic Aneurysms and Dissections" EXACT [] synonym: "Thoracoabdominal Aortic Aneurysm" EXACT [] synonym: "thoracoabdominal aortic aneurysms" EXACT [] xref: EFO:0004282 xref: EFO:0010163 xref: MESH:D017545 xref: MIM:PS607086 xref: NCI:C27001 xref: ORDO:91387 is_a: DOID:3627 ! aortic aneurysm [Term] id: DOID:14006 name: splenic artery aneurysm xref: ICD9CM:442.83 xref: RDO:9002814 is_a: DOID:0050828 ! artery disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14018 name: alcoholic liver cirrhosis def: "FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING." [MESH:D008104] synonym: "Alcoholic Cirrhosis" EXACT [] synonym: "alcoholic cirrhosis of liver" EXACT [] synonym: "Alcoholic Hepatic Cirrhosis" EXACT [] synonym: "Laennec's cirrhosis" EXACT [] synonym: "Laennec's cirrhosis, alcoholic" EXACT [] synonym: "Portal cirrhosis" EXACT [] xref: EFO:1000802 xref: ICD10CM:K70.3 xref: ICD9CM:571.2 xref: MESH:D008104 xref: NCI:C34782 is_a: DOID:5082 ! liver cirrhosis is_a: DOID:9001285 ! Alcoholic Liver Diseases [Term] id: DOID:14019 name: Brucella canis brucellosis def: "A brucellosis involving an infection caused by Brucella canis [NCBITaxon:36855] in dogs and humans. The disease has_symptom fever, has_symptom sweats, has_symptom weakness, has_symptom weight loss, has_symptom headache, has_symptom lymphadenopathy and has_symptom splenomegaly. (DO)" [http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/1172954 "DO"] xref: ICD10CM:A23.3 xref: ICD9CM:023.3 xref: MONDO:0001857 is_a: DOID:11077 ! brucellosis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:14021 name: Tietze's syndrome def: "A cartilage disease that is characterized by localized tenderness and non-suppurative swelling, typically associated with the 2nd or 3rd costal cartilages unilaterally caused by inflammation of one or more of the costal cartilages and that has symptom anterior chest pain. (DO)" [https://en.wikipedia.org/wiki/Tietze_syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK564363/ "DO", https://www.ucsfhealth.org/medical-tests/slipping-rib-syndrome "DO", MESH:D013991] synonym: "costal chondritis" EXACT [] synonym: "costalchondritis" EXACT [] synonym: "costochondral junction syndrome" EXACT [] synonym: "costochondritis" EXACT [] synonym: "slipping rib syndrome" EXACT [] synonym: "Tietze's disease" EXACT [] synonym: "Tietzes Syndrome" EXACT [] synonym: "Tietze syndrome" EXACT [] xref: ICD10CM:M94.0 xref: ICD9CM:733.6 xref: MESH:D013991 is_a: DOID:1222 ! cartilage disease is_a: DOID:225 ! syndrome [Term] id: DOID:14022 name: algoneurodystrophy xref: ICD10CM:M89.0 xref: ICD9CM:733.7 is_a: DOID:3223 ! complex regional pain syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14026 name: folic acid deficiency anemia def: "A nutritional deficiency disease that is characterized by a decrease in red blood cells due to lack of folate, has_material_basis_in insufficient folic acid in diet, hemolytic anemia, alcoholism, and/or certain medicines. (DO)" [https://medlineplus.gov/ency/article/000551.htm "DO"] synonym: "folate-deficiency anaemia" EXACT [] synonym: "folate-deficiency anemia" EXACT [] synonym: "folate-deficient megaloblastic anaemia" EXACT [] synonym: "folic acid deficiencies" EXACT [] synonym: "folic acid deficiency" EXACT [] synonym: "folic acid deficiency anaemia" EXACT [] xref: EFO:0001070 xref: ICD10CM:D52 xref: ICD9CM:281.2 xref: MESH:D005494 xref: MONDO:0001860 is_a: DOID:2355 ! anemia is_a: DOID:9002785 ! Vitamin B Deficiency [Term] id: DOID:14032 name: malignant parietal pleura tumor synonym: "primary malignant neoplasm of parietal pleura" EXACT [] is_a: DOID:5158 ! pleural cancer [Term] id: DOID:14033 name: malignant visceral pleura tumor synonym: "primary malignant neoplasm of visceral pleura" EXACT [] is_a: DOID:5158 ! pleural cancer [Term] id: DOID:14037 name: aorta atresia def: "An aortic disease that is characterized by an absence of an opening from the left ventricle of the heart into the aorta. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25956755 "DO"] synonym: "atresia and stenosis of aorta" EXACT [] synonym: "congenital atresia and stenosis of aorta" EXACT [] xref: ICD9CM:747.22 is_a: DOID:520 ! aortic disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:14039 name: POEMS syndrome def: "A blood protein disease that is characterized by polyneuropathy, oranomegaly, endocrinopathy, monoclonal gammopathy, and skin changes, especially hyperpigmentation. (DO)" [https://rarediseases.info.nih.gov/diseases/7411/poems-syndrome "DO"] synonym: "Crow Fukase Syndrome" EXACT [] synonym: "polyneuropathy organomegalies" EXACT [] synonym: "Polyneuropathy Organomegaly" EXACT [] synonym: "Polyneuropathy, Organomegaly, Endocrinopathy, M Protein, and Skin Changes Syndrome" EXACT [] synonym: "Takatsuki's Syndrome" EXACT [] synonym: "Takatsuki syndrome" EXACT [] xref: EFO:1001115 xref: GARD:7411 xref: MESH:D016878 xref: NCI:C80303 is_a: DOID:1389 ! polyneuropathy is_a: DOID:225 ! syndrome is_a: DOID:2916 ! hypersensitivity reaction type IV disease is_a: DOID:9003571 ! Paraproteinemias is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:1404 name: residual stage angle-closure glaucoma synonym: "residual stage of angle-closure glaucoma" EXACT [] xref: ICD10CM:H40.24 xref: ICD9CM:365.24 xref: RDO:9004234 is_a: DOID:1405 ! primary angle-closure glaucoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:14040 name: autoimmune polyendocrine syndrome def: "An autoimmune disease of endocrine system characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO)" [https://en.wikipedia.org/wiki/Autoimmune_polyendocrine_syndrome "DO"] synonym: "AIRE deficiencies" EXACT [] synonym: "AIRE deficiency" EXACT [] synonym: "APECED" EXACT [] synonym: "autoimmune polyendocrinopathies" EXACT [] synonym: "autoimmune polyendocrinopathy" EXACT [] synonym: "autoimmune polyendocrinopathy, candidiasis, ectodermal dystrophy" EXACT [] synonym: "Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy" EXACT [] synonym: "Autoimmune polyglandular failure" EXACT [] synonym: "diabetes mellitus, Addison's disease, myxedema" EXACT [] synonym: "diabetes mellitus, Addison disease, myxedema" EXACT [] synonym: "Lloyd's syndrome" EXACT [] xref: ICD10CM:E31.0 xref: MESH:D016884 xref: NCI:C84576 is_a: DOID:0060005 ! autoimmune disease of endocrine system [Term] id: DOID:14042 name: bipolar I disorder alt_id: DOID:0080220 def: "A bipolar disorder that is characterized by at least one manic or mixed episode. (DO)" [http://en.wikipedia.org/wiki/Bipolar_I "DO"] synonym: "autosomal manic-depressive psychosis" EXACT [] synonym: "MAFD1" EXACT [] synonym: "major affective disorder 1" EXACT [] synonym: "MD1" EXACT [] xref: EFO:0009963 xref: ICD9CM:296.50 xref: MESH:C565111 xref: MIM:125480 xref: MONDO:0001866 is_a: DOID:3312 ! bipolar disorder created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14043 name: neonatal myasthenia gravis def: "A disorder of neuromuscular transmission that occurs in a minority of newborns born to women with myasthenia gravis. Clinical features are usually present at birth or develop in the first 3 days of life and consist of hypotonia and impaired respiratory, suck, and swallowing abilities. This condition is associated with the passive transfer of acetylcholine receptor antibodies through the placenta. In the majority of infants the myasthenic weakness resolves (i.e., transient neonatal myasthenia gravis) although this disorder may rarely continue beyond the neonatal period (i.e., persistent neonatal myasthenia gravis). (From Menkes, Textbook of Child Neurology, 5th ed, p823; Neurology 1997 Jan;48(1):50-4)" [MESH:D020941] synonym: "antenatal myasthenia gravis" EXACT [] synonym: "persistent neonatal myasthenia gravis" EXACT [] synonym: "transient neonatal myasthenia gravis" EXACT [] xref: EFO:1001059 xref: ICD9CM:775.2 xref: MESH:D020941 is_a: DOID:437 ! myasthenia gravis [Term] id: DOID:14049 name: phaeohyphomycosis def: "A primary systemic mycosis located_in subcutaneous tissues, located_in brain, located_in sinuses, located_in lungs, or located_in peritoneal cavity, has_material_basis_in Exophiala dermatitidis, has_material_basis_in Phialophora, has_material_basis_in Curvularia hawaiiensis, has_material_basis_in Exserohilum, has_material_basis_in Cladophialophora bantiana, has_material_basis_in Phaeoannellomyces, has_material_basis_in Aureobasidium, has_material_basis_in Cladosporium cladosporoides, has_material_basis_in Alternaria or has_material_basis_in Rhinocladiella mackenziei and results_in_formation_of subcutaneous abscesses arising at the site of minor trauma, and occur in both immunosuppressed and immunocompetent individuals. (DO)" [http://www.thelancet.com/journals/laninf/article/PIIS1473-3099%2809%2970131-8/abstract "DO", https://drfungus.org/knowledge-base/phaeohyphomycosis/ "DO", https://www.adelaide.edu.au/mycology/mycoses/subcutaneous-mycoses#phaeohyphomycosis "DO"] synonym: "cutaneous phaeohyphomycoses" EXACT [] synonym: "cutaneous phaeohyphomycosis" EXACT [] synonym: "Infection by dematiacious fungi" EXACT [] synonym: "phaehyphomycosis" EXACT [] synonym: "Phaeohyphomycoses" EXACT [] synonym: "subcutaneous phaeohyphomycoses" EXACT [] synonym: "subcutaneous phaeohyphomycosis" EXACT [] xref: GARD:12803 xref: MESH:D060446 is_a: DOID:0050134 ! cutaneous mycosis is_a: DOID:0050292 ! primary systemic mycosis is_a: DOID:1352 ! paranasal sinus disease is_a: DOID:37 ! skin disease is_a: DOID:850 ! lung disease is_a: DOID:936 ! brain disease [Term] id: DOID:1405 name: primary angle-closure glaucoma def: "An angle-closure glaucoma characterized by closure of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Primary angle-closure glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Primary angle closure glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO"] synonym: "COL18A1-RELATED CONDITION" BROAD [] synonym: "primary closed-angle glaucoma" EXACT [] xref: EFO:1001506 xref: ICD10CM:H40.2 xref: ICD9CM:365.2 xref: MIM:618880 is_a: DOID:13550 ! angle-closure glaucoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:14059 name: paraurethral gland cancer def: "A female reproductive organ cancer that is located_in the paraurethral glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/5874817 "DO"] synonym: "malignant tumor of paraurethral gland" EXACT [] synonym: "malignant tumor of the Paraurethral gland" EXACT [] xref: ICD10CM:C68.1 xref: ICD9CM:189.4 xref: RDO:9002286 is_a: DOID:120 ! female reproductive organ cancer created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:1406 name: iritis def: "Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris." [MESH:D007500] synonym: "Iritides" EXACT [] xref: EFO:1000997 xref: MESH:D007500 xref: NCI:C50621 is_a: DOID:1407 ! anterior uveitis is_a: DOID:240 ! iris disease [Term] id: DOID:14064 name: acute poststreptococcal glomerulonephritis synonym: "post-streptococcal glomerulonephritis" EXACT [] xref: NCI:C35443 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:14066 name: acute diffuse nephritis synonym: "acute diffuse glomerulonephritis" EXACT [] xref: NCI:C35587 is_a: DOID:4781 ! diffuse glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:14067 name: Plasmodium falciparum malaria def: "A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=falciparum+malaria "DO"] synonym: "falciparum malaria" EXACT [] synonym: "malaria fever, subtertian" EXACT [] synonym: "malignant tertian fever" EXACT [] xref: EFO:0007444 xref: ICD10CM:B50 xref: ICD9CM:084.0 xref: MESH:D016778 xref: NCI:C34798 is_a: DOID:12365 ! malaria [Term] id: DOID:14068 name: blackwater fever def: "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. (DO)" [http://en.wikipedia.org/wiki/Blackwater_fever "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=blackwater%20fever "DO"] synonym: "Black Water Fever" EXACT [] synonym: "Black Water Fevers" EXACT [] synonym: "Blackwater Fevers" EXACT [] synonym: "hemoglobinuric malaria" EXACT [] synonym: "Hemolytic Malaria" EXACT [] synonym: "Hemolytic Malarias" EXACT [] synonym: "malarial hemoglobinuria" EXACT [] xref: EFO:0007172 xref: ICD9CM:084.8 xref: MESH:D001742 xref: NCI:C34426 is_a: DOID:12365 ! malaria is_a: DOID:14067 ! Plasmodium falciparum malaria [Term] id: DOID:14069 name: cerebral malaria def: "A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. (DO)" [http://en.wikipedia.org/wiki/Malaria "DO"] synonym: "malarial encephalitis" EXACT [] synonym: "Malaria Meningitis" EXACT [] xref: EFO:0006857 xref: ICD10CM:B50.0 xref: MESH:D016779 xref: NCI:C128373 is_a: DOID:12365 ! malaria is_a: DOID:9002216 ! Central Nervous System Protozoal Infections [Term] id: DOID:1407 name: anterior uveitis alt_id: RDO:0004984 def: "Inflammation of the anterior uvea comprising the iris, angle structures, and the ciliary body. Manifestations of this disorder include ciliary injection, exudation into the anterior chamber, iris changes, and adhesions between the iris and lens (posterior synechiae). Intraocular pressure may be increased or reduced." [MESH:D014606] synonym: "Anterior Uveitides" EXACT [] xref: EFO:1000811 xref: GARD:10941 xref: MESH:D014606 xref: NCI:C35109 is_a: DOID:12030 ! panuveitis [Term] id: DOID:14070 name: vestibular nystagmus synonym: "Nystagmus associated with disorder of the vestibular system" EXACT [ICD9CM_2006:379.54] xref: ICD9CM:379.54 xref: RDO:9003054 is_a: DOID:1242 ! globe disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:14075 name: geniculate ganglionitis synonym: "geniculate ganglionitides" EXACT [] xref: ICD10CM:G51.1 xref: ICD9CM:351.1 is_a: DOID:1756 ! facial nerve disease [Term] id: DOID:14080 name: glucocorticoid-remediable aldosteronism alt_id: MIM:103900 def: "A primary hyperaldosteronism characterized by variably expressed and severe hypertension, hyperaldosteronism and abnormal adrenal steroid production which improve with exogenous glucocorticoid administration that has_material_basis_in a chimeric gene formed of the CYP11B2 and CYP11B1 genes on chromosome 8q24.3. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10852446/ "DO", https://pubmed.ncbi.nlm.nih.gov/1731223/ "DO"] synonym: "ACTH-dependent hyperaldosteronism syndrome" EXACT [] synonym: "aldosteronism sensitive to dexamethasone" EXACT [] synonym: "familial hyperaldosteronism type I" EXACT [] synonym: "FH I" EXACT [] synonym: "glucocorticoid-suppressible hyperaldosteronism" EXACT [] synonym: "GRA" EXACT [] synonym: "GRS" EXACT [] synonym: "GSH" EXACT [] synonym: "HALD1" EXACT [] xref: GARD:2790 xref: ICD10CM:E26.02 xref: ICD9CM:255.11 xref: MESH:C563177 xref: NCI:C123248 xref: NCI:C127161 is_a: DOID:446 ! primary hyperaldosteronism [Term] id: DOID:14081 name: toxic labyrinthitis def: "A labyrinthitis induced by alcohol, drug ingestion, or occasionally, inhaled substances that are toxic to the inner ear. Drugs like aminoglycosides, furosemide, ethacrynic acid, acetylsalicyclic acid, amiodarone, quinine, cisplatinum, barbiturates, quinine, anti-Alzheimer's medications, anticonvulsants, antidepressants, and anxiolytics can be ototoxic. (DO)" [http://books.google.com/books?id=FB0Asxq2KSQC&pg=PA120&lpg#v=onepage&q=&f=false "DO", https://www.ncbi.nlm.nih.gov/pubmed/16448876 "DO"] xref: ICD9CM:386.34 is_a: DOID:1468 ! labyrinthitis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:14087 name: epicondylitis def: "A bone inflammation disease that results_in inflammation located_in epicondyle. (DO)" [http://en.wikipedia.org/wiki/Epicondylitis "DO"] synonym: "andrel epicondylitis" EXACT [] synonym: "archer's elbow" EXACT [] synonym: "golfer's elbow" NARROW [] synonym: "hockey elbow" EXACT [] synonym: "lateral epicondylitides" NARROW [] synonym: "Lateral Epicondylitis" NARROW [] synonym: "Lateral Humeral Epicondylitides" NARROW [] synonym: "Lateral Humeral Epicondylitis" NARROW [] synonym: "medial epicondylitis" NARROW [] synonym: "shooter's elbow" RELATED [] synonym: "Tennis Elbow" NARROW [] synonym: "tennis elbows" NARROW [] xref: EFO:1001887 xref: EFO:1001896 xref: ICD10CM:M77.1 xref: ICD9CM:726.32 xref: MESH:D013716 xref: NCI:C34589 xref: NCI:C35067 is_a: DOID:3342 ! bone inflammation disease is_a: DOID:9003309 ! Arm Injuries is_a: DOID:9006252 ! Elbow Tendinopathy [Term] id: DOID:14089 name: root caries def: "Dental caries involving the tooth root, cementum, or cervical area of the tooth." [MESH:D017213] synonym: "cementum caries" EXACT [] synonym: "Cervical Caries" EXACT [] synonym: "Cervical Cary" EXACT [] synonym: "dental caries of root surface" EXACT [] xref: EFO:1001163 xref: ICD9CM:521.08 xref: MESH:D017213 is_a: DOID:216 ! dental caries [Term] id: DOID:14092 name: renal artery atheroma synonym: "Atherosclerosis of renal artery" EXACT [] synonym: "renal atherosclerosis" RELATED [] xref: ICD10CM:I70.1 xref: ICD9CM:440.1 xref: RDO:9002216 is_a: DOID:1936 ! atherosclerosis is_a: DOID:2388 ! renal artery disease is_a: DOID:2972 ! renal artery obstruction created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:14095 name: boutonneuse fever def: "A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. (DO)" [http://en.wikipedia.org/wiki/Boutonneuse_fever "DO", http://www.cdc.gov/otherspottedfever/index.html "DO"] synonym: "african tick typhus" EXACT [] synonym: "Boutonneuse disease" RELATED [] synonym: "Boutonneuse fevers" EXACT [] synonym: "Conor and Bruch's disease" RELATED [] synonym: "Kenya fever" RELATED [] synonym: "Kenyan tick typhus" RELATED [] synonym: "kenya tick typhus" EXACT [] synonym: "marseilles fever" EXACT [] synonym: "Mediterranean spotted fever" EXACT [] synonym: "Mediterranean tick fever" RELATED [] synonym: "Rickettsia conorii spotted fever" EXACT [] synonym: "South African tick-bite fever" EXACT [] xref: EFO:0007179 xref: ICD10CM:A77.1 xref: ICD9CM:082.1 xref: MESH:D001907 is_a: DOID:11104 ! spotted fever [Term] id: DOID:14096 name: infertility due to extratesticular cause synonym: "Infertility due to extratesticular causes" EXACT [ICD9CM_2006:606.8] xref: ICD9CM:606.8 xref: RDO:9003737 is_a: DOID:12336 ! male infertility created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14099 name: acquired gastric outlet stenosis synonym: "acquired hypertrophic pyloric stenosis" EXACT [] synonym: "adult hypertrophic pyloric stenosis" EXACT [] xref: ICD9CM:537.0 is_a: DOID:12639 ! pyloric stenosis [Term] id: DOID:14107 name: De Quervain disease def: "Stenosing tenosynovitis of the abductor pollicis longus and extensor pollicis brevis tendons in the first dorsal wrist compartment. The presenting symptoms are usually pain and tenderness at the radial styloid. The cause is almost always related to OVERUSE INJURY or is associated with RHEUMATOID ARTHRITIS." [MESH:D053684] synonym: "De Quervain's Disease" EXACT [] synonym: "de Quervain's tenosynovitis" EXACT [] synonym: "De Quervains Disease" EXACT [] synonym: "De Quervain Stenosing Tenosynovitis" EXACT [] synonym: "radial styloid tenosynovitis" EXACT [] xref: EFO:1000891 xref: ICD10CM:M65.4 xref: ICD9CM:727.04 xref: MESH:D053684 is_a: DOID:381 ! arthropathy is_a: DOID:9004608 ! Tendon Entrapment [Term] id: DOID:14110 name: anus cancer def: "A large intestine cancer that is located_in the anus. (DO)" [http://en.wikipedia.org/wiki/Anus "DO"] synonym: "anal cancer" EXACT [] synonym: "malignant anal tumor" EXACT [] xref: EFO:0003835 xref: GARD:9300 xref: ICD10CM:C21.0 xref: ICD10CM:C21.1 xref: ICD9CM:154.2 xref: ICD9CM:154.3 xref: NCI:C7379 is_a: DOID:3128 ! anus disease is_a: DOID:5672 ! large intestine cancer [Term] id: DOID:14111 name: median rhomboid glossitis synonym: "persistent tuberculum impar" EXACT [] xref: ICD10CM:K14.2 xref: ICD9CM:529.2 is_a: DOID:1456 ! glossitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:14115 name: toxic shock syndrome def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Streptococcus pyogenes or has_material_basis_in Staphylococcus aureus, which produce toxins that are absorbed systemically and produce the systemic manifestations. The infection has_symptom fever, has_symptom rash, has_symptom hypotension, has_symptom multiorgan failure, has_symptom desquamation, has_symptom vomiting, has_symptom diarrhea, has_symptom headache, and has_symptom nonfocal neurologic abnormalities. (DO)" [http://en.wikipedia.org/wiki/Toxic_shock_syndrome "DO"] synonym: "Toxic Shock" EXACT [] synonym: "Toxic Shock Syndromes" EXACT [] synonym: "TSS" EXACT [] xref: ICD10CM:A48.3 xref: ICD9CM:040.82 xref: MESH:D012772 xref: NCI:C35498 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:9004484 ! Sepsis [Term] id: DOID:14116 name: multiple symmetric lipomatosis alt_id: DOID:3137 alt_id: MIM:151800 def: "A condition characterized by the growth of unencapsulated masses of ADIPOSE TISSUE symmetrically deposited around the neck, shoulders, or other sites around the body." [] synonym: "benign symmetrical lipomatosis" EXACT [] synonym: "cephalothoracic lipodystrophies" EXACT [] synonym: "cephalothoracic lipodystrophy" EXACT [] synonym: "cervical symmetrical lipomatosis" EXACT [] synonym: "familial benign cervical lipomatosis" EXACT [] synonym: "Launois-Bensaude's lipomatosis" EXACT [] synonym: "Launois-Bensaude syndrome" EXACT [] synonym: "Madelung's Disease" EXACT [] synonym: "Madelung's neck" EXACT [] synonym: "Madelung disease" EXACT [] synonym: "Madelung Neck" EXACT [] synonym: "Madelungs Disease" EXACT [] synonym: "Madelungs neck" EXACT [] synonym: "multiple symmetrical lipomatoses" EXACT [] synonym: "multiple symmetrical lipomatosis" EXACT [] synonym: "multiple symmetric lipomatoses" EXACT [] synonym: "multiple symmetric lipomatosis, with or without peripheral neuropathy" EXACT [] synonym: "nodular circumscribed lipomatoses" EXACT [] synonym: "nodular circumscribed lipomatosis" EXACT [] xref: EFO:1000737 xref: GARD:6957 xref: MESH:D008069 xref: NCI:C4392 is_a: DOID:3153 ! lipomatosis [Term] id: DOID:14118 name: familial lipoprotein lipase deficiency def: "A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35415234/ "DO", https://rarediseases.org/rare-diseases/familial-lipoprotein-lipase-deficiency/ "DO"] synonym: "Burger Grutz Syndrome" EXACT [] synonym: "Burger-Grutz syndromes" EXACT [] synonym: "C-II Anapolipoproteinemia" EXACT [] synonym: "C-II anapolipoproteinemias" EXACT [] synonym: "Essential Familial Hyperlipemia" EXACT [] synonym: "essential familial hyperlipemias" EXACT [] synonym: "familial chylomiconemia syndrome" EXACT [] synonym: "Familial Chylomicronemia" EXACT [] synonym: "familial chylomicronemias" EXACT [] synonym: "Familial Fat Induced Hypertriglyceridemia" EXACT [] synonym: "familial fat-induced hypertriglyceridemias" EXACT [] synonym: "Familial Hyperchylomicronemia" EXACT [] synonym: "Familial Hyperchylomicronemias" EXACT [] synonym: "Familial Hyperlipoproteinemia Type 1" EXACT [] synonym: "familial hyperlipoproteinemia type I" EXACT [] synonym: "Familial LPL Deficiencies" EXACT [] synonym: "Familial LPL Deficiency" EXACT [] synonym: "Fredrickson type I hyperlipoproteinemia" EXACT [] synonym: "Fredrickson type I lipaemia" EXACT [] synonym: "hypercholesterinaemic xanthomatosis" EXACT [] synonym: "hyperchylomicronemia" EXACT [] synonym: "Hyperlipemia, Idiopathic, Burger-Grutz Type" EXACT [] synonym: "hyperlipoproteinemias type I" EXACT [] synonym: "hyperlipoproteinemias type Ia" EXACT [] synonym: "Hyperlipoproteinemia Type I" EXACT [] synonym: "Hyperlipoproteinemia Type Ia" EXACT [] synonym: "Lipase D Deficiencies" EXACT [] synonym: "Lipase D Deficiency" EXACT [] synonym: "LIPD Deficiencies" EXACT [] synonym: "LIPD Deficiency" EXACT [] synonym: "Lipoprotein Lipase Deficiencies" EXACT [] synonym: "lipoprotein lipase deficiency" EXACT [] synonym: "LPL deficiency" EXACT [] synonym: "mixed hyperglyceridemia" EXACT [] xref: GARD:12241 xref: ICD10CM:E78.3 xref: ICD9CM:272.3 xref: MESH:D008072 xref: MIM:238600 xref: MONDO:0009387 xref: NCI:C84771 xref: ORDO:309015 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111417 ! familial chylomicronemia syndrome is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:1412 name: bacteriuria def: "A urinary system disease which consists of the presence of bacteria in urine. (DO)" [http://en.wikipedia.org/wiki/Bacteriuria "DO"] synonym: "bacteriurias" EXACT [] xref: ICD10CM:R82.71 xref: MESH:D001437 is_a: DOID:0080784 ! urinary tract infection is_a: DOID:18 ! urinary system disease [Term] id: DOID:14121 name: blue toe syndrome def: "A condition that is caused by recurring atheroembolism in the lower extremities. It is characterized by cyanotic discoloration of the toes, usually the first, fourth, and fifth toes. Discoloration may extend to the lateral aspect of the foot. Despite the gangrene-like appearance, blue toes may respond to conservative therapy without amputation." [MESH:D018438] xref: MESH:D018438 is_a: DOID:1461 ! cholesterol embolism is_a: DOID:225 ! syndrome is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:14125 name: abducens nerve neoplasm synonym: "neoplasm of abducens nerve" EXACT [] synonym: "VIth cranial nerve tumors" EXACT [] xref: NCI:C5826 is_a: DOID:10865 ! abducens nerve palsy is_a: DOID:2815 ! cranial nerve malignant neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:14130 name: lateral cystocele def: "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the anterolateral vaginal walls. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26337427 "DO"] xref: ICD10CM:N81.12 xref: ICD9CM:618.02 is_a: DOID:1284 ! prolapse of female genital organ is_a: DOID:9005096 ! Cystocele created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:14131 name: midline cystocele def: "A prolapse of the female genital organ that is characterized by the descent of the bladder causing a bulge in the midline anterior vaginal wall. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26337427 "DO"] xref: ICD10CM:N81.11 xref: ICD9CM:618.01 is_a: DOID:1284 ! prolapse of female genital organ is_a: DOID:9005096 ! Cystocele created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:14133 name: Masters-Allen syndrome def: "A female reproductive system disease that is characterized by an excessively mobile uterus secondary to lacerations of the broad and cardinal ligaments, specific tenderness with movement of the cervix and previous untoward obstetrics events, such as premature maternal voluntary efforts, precipate delivery, and forceps delivery. (DO)" [https://www.ajog.org/article/S0002-9378(05)02620-7/abstract "DO"] synonym: "broad ligament laceration syndrome" EXACT [] xref: ICD9CM:620.6 xref: RDO:9004593 is_a: DOID:225 ! syndrome is_a: DOID:229 ! female reproductive system disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:14139 name: anus lymphoma synonym: "lymphoma of anus" EXACT [] xref: NCI:C5601 is_a: DOID:0060058 ! lymphoma is_a: DOID:14110 ! anus cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:1414 name: ovarian dysfunction def: "An ovarian disease that is characterized by irregular or absent ovulation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26132932 "DO"] xref: EFO:0009003 xref: ICD9CM:256.3 is_a: DOID:1100 ! ovarian disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14140 name: pulp erosion xref: ICD9CM:521.33 is_a: DOID:2498 ! tooth erosion [Term] id: DOID:14145 name: malignant anus melanoma synonym: "anal melanoma" EXACT [] synonym: "EFO:1000080" EXACT [] synonym: "malignant melanoma of anus" EXACT [] xref: EFO:1000080 xref: NCI:C4639 is_a: DOID:14110 ! anus cancer is_a: DOID:1909 ! melanoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:14146 name: ureterolithiasis def: "An ureteral disease this is characterized by the formation of stoney concentrations in the ureter. (DO)" [https://www.jucm.com/ureterolithiasis-leaving-stone-unturned/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28513524 "DO"] synonym: "calculus of ureter" EXACT [] synonym: "ureteric calculus" EXACT [] synonym: "ureteric stone" EXACT [] synonym: "ureterolithiases" EXACT [] xref: EFO:1001228 xref: ICD10CM:N20.1 xref: ICD9CM:592.1 xref: MESH:D053039 xref: NCI:C114696 is_a: DOID:0080653 ! urolithiasis is_a: DOID:1426 ! ureteral disease [Term] id: DOID:1415 name: gyrate atrophy alt_id: MIM:258870 def: "Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood." [MESH:D015799] synonym: "GACR" EXACT [] synonym: "Gyrate Atrophy of Choroid and Retina" EXACT [] synonym: "Gyrate Atrophy of Choroid and Retina with Pyridoxine-Responsive Ornithinemia" EXACT [] synonym: "Gyrate atrophy of the choroid and/or retina" EXACT [SNOMEDCT_2005_07_31:87126009] synonym: "Gyrate Atrophy of the Choroid and Retina" EXACT [] synonym: "gyrate atrophy of the retina" EXACT [CSP2005:1849-9719] synonym: "HOGA" EXACT [] synonym: "Hyperornithinemia with Gyrate Atrophy of Choroid and Retina" EXACT [] synonym: "OAT Deficiency" EXACT [] synonym: "OKT Deficiency" EXACT [] synonym: "Ornithine Aminotransferase Deficiency" EXACT [] synonym: "Ornithine Delta Aminotransferase Deficiency" EXACT [] synonym: "Ornithine Keto Acid Aminotransferase Deficiency" EXACT [] synonym: "Ornithine Ketoacid Aminotransferase Deficiency" EXACT [] synonym: "Ornithinemia with Gyrate Atrophy" EXACT [] xref: GARD:6556 xref: MESH:D015799 xref: NCI:C84744 xref: RDO:0001120 is_a: DOID:1417 ! choroid disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:14150 name: spinal cord lymphoma def: "A spinal cancer that is located_in the spinal cord and derives_from lymphocytes. (DO)" [http://www.virtualmedicalcentre.com/diseases.asp?did=583 "DO"] synonym: "lymphoma of the spinal cord" EXACT [] xref: NCI:C5157 is_a: DOID:3234 ! central nervous system lymphoma is_a: DOID:5612 ! spinal cancer is_a: DOID:5772 ! central nervous system hematologic cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:14151 name: spinal cord melanoma synonym: "melanoma of the spinal cord" EXACT [] xref: NCI:C5158 is_a: DOID:1909 ! melanoma is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:14152 name: spinal cord sarcoma synonym: "sarcoma of the spinal cord" EXACT [] xref: NCI:C5152 is_a: DOID:2133 ! central nervous system sarcoma is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:14155 name: acute retrobulbar neuritis synonym: "Retrobulbar Neuritides" EXACT [] synonym: "Retrobulbar neuritis" EXACT [ICD9CM_2006:377.32] xref: ICD9CM:377.32 xref: RDO:9002686 is_a: DOID:1210 ! optic neuritis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14159 name: obstructive hydrocephalus xref: ICD10CM:G91.1 xref: ICD9CM:331.4 xref: NCI:C116347 xref: RDO:9003971 is_a: DOID:10908 ! hydrocephalus created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:14165 name: bilateral hyperactive labyrinth synonym: "hyperactive bilateral labyrinthine dysfunction" EXACT [] xref: ICD9CM:386.52 is_a: DOID:2952 ! inner ear disease is_a: DOID:566 ! labyrinthine dysfunction created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:1417 name: choroid disease alt_id: OMIA:000218 def: "An uveal disease that is located_in the choroid. (DO)" [https://www.vagelos.columbia.edu/departments-centers/ophthalmology/education/digital-reference-ophthalmology/vitreous-and-retina/retina-choroid-disorders "DO", MESH:D015862] synonym: "Choroidal Disease" EXACT [] synonym: "Choroidal Diseases" EXACT [] synonym: "choroidal dystrophy" NARROW [] synonym: "choroidal hypoplasia" NARROW [] synonym: "choroid diseases" EXACT [] synonym: "Collie eye anomaly" NARROW [] xref: ICD10CM:H31.9 xref: ICD9CM:363.9 xref: MESH:D015862 xref: NCI:C34468 is_a: DOID:3480 ! uveal disease [Term] id: DOID:14172 name: rheumatic congestive heart failure synonym: "Rheumatic heart failure" RELATED [] xref: ICD10CM:I09.81 xref: ICD9CM:398.91 xref: RDO:9002013 is_a: DOID:0050827 ! rheumatic heart disease is_a: DOID:6000 ! congestive heart failure created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:14174 name: central neurocytoma def: "A benign brain tumor composed of neural elements which most often arise from the SEPTUM PELLUCIDUM and the walls of the lateral ventricles. Immunohistochemistry and electron microscopy evaluations may reveal expression of neuron specific enolase and synaptophysin and cells containing microtubuli, neurosecretory granules, and presynaptic vesicles. (From Acta Med Port 1994 Feb;7(2):113-9)" [MESH:D018306] synonym: "Central Neurocytomas" EXACT [] synonym: "neurocytoma" EXACT [] synonym: "Neurocytomas" EXACT [] synonym: "neurolipocytoma" EXACT [] xref: EFO:1000856 xref: ICDO:9506/1 xref: MESH:D018306 xref: NCI:C3791 is_a: DOID:3541 ! cerebral ventricle cancer is_a: DOID:7305 ! astroblastoma [Term] id: DOID:14175 name: von Hippel-Lindau disease alt_id: MIM:193300 def: "An autosomal dominant disorder caused by mutations in a tumor suppressor gene. This syndrome is characterized by abnormal growth of small blood vessels leading to a host of neoplasms. They include HEMANGIOBLASTOMA in the RETINA; CEREBELLUM; and SPINAL CORD; PHEOCHROMOCYTOMA; pancreatic tumors; and renal cell carcinoma (see CARCINOMA, RENAL CELL). Common clinical signs include HYPERTENSION and neurological dysfunctions." [MESH:D006623] synonym: "Angiomatosis Retinae" EXACT [] synonym: "Familial Cerebello-Retinal Angiomatoses" EXACT [] synonym: "Familial Cerebelloretinal Angiomatoses" EXACT [] synonym: "Familial Cerebello Retinal Angiomatosis" EXACT [] synonym: "Familial Cerebelloretinal Angiomatosis" EXACT [] synonym: "Hippel Lindau Disease" EXACT [] synonym: "Hippel Lindau syndrome" EXACT [CSP2005:5000-0055] synonym: "Lindau's Disease" EXACT [] synonym: "Lindau's Diseases" EXACT [] synonym: "Lindau Disease" EXACT [] synonym: "Lindaus Disease" EXACT [] synonym: "VHL" EXACT [] synonym: "VHL Syndrome" EXACT [] synonym: "VHL Syndromes" EXACT [] synonym: "von Hippel-Lindau" EXACT [] synonym: "von Hippel Lindau Syndrome" EXACT [] synonym: "von Hippel-Lindau syndrome, modifier of" RELATED [] synonym: "von Hippel-Lindau syndrome, modifiers of" RELATED [] xref: GARD:7855 xref: ICD10CM:Q85.8 xref: ICD10CM:Q85.83 xref: MESH:D006623 xref: NCI:C3105 is_a: DOID:5241 ! hemangioblastoma is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9004079 ! Angiomatosis [Term] id: DOID:14176 name: selective IgG deficiency disease def: "A dysgammaglobulinemia that is characterized by isolated deficiency of an IgG subclass, normal total IgG levels, and subsequent increased susceptibility to recurrent infections, atopic disease, and autoimmune conditions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26846287 "DO"] synonym: "IgG Deficiencies" EXACT [] synonym: "IgG Deficiency" EXACT [] synonym: "immunoglobin G subclass deficiency" EXACT [] synonym: "selective deficiency of IgG" EXACT [] synonym: "selective IgG Immunodeficiency" EXACT [] synonym: "selective immunoglobulin G deficiency" EXACT [] synonym: "selective immunoglobulin G subclass deficiency" EXACT [] xref: GARD:10371 xref: ICD10CM:D80.3 xref: MESH:D017099 xref: NCI:C27024 xref: NCI:C27142 is_a: DOID:11702 ! dysgammaglobulinemia [Term] id: DOID:14177 name: congenital hypogammaglobulinemia synonym: "congenital hypogammaglobulinaemia" EXACT [] xref: ICD9CM:279.04 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080015 ! physical disorder is_a: DOID:2115 ! B cell deficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:14179 name: X-linked agammaglobulinemia alt_id: MIM:300755 def: "An agammaglobulinemia that is that has_material_basis_in a mutation in the Bruton's tyrosine kinase (BTK) gene on the X chromosome resulting in X-linked agammaglobulinemia type 1, which is an immunodeficiency characterized by the failure to produce mature B lymphocytes, and associated with a failure of Ig heavy chain rearrangement. (DO)" [http://en.wikipedia.org/wiki/X-linked_agammaglobulinemia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001307.htm "DO"] synonym: "agammaglobulinemia, Bruton tyrosine kinase" EXACT [] synonym: "agammaglobulinemia, BTK" EXACT [] synonym: "AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1" EXACT [] synonym: "Agammaglobulinemia, X-Linked, Type I" EXACT [] synonym: "AGMX1" EXACT [] synonym: "Bruton's agammaglobulinaemia" EXACT [] synonym: "Bruton's agammaglobulinemia" EXACT [] synonym: "Bruton's sex-linked agammaglobulinemia" EXACT [] synonym: "Bruton's type agammaglobulinemia" EXACT [] synonym: "Bruton agammaglobulinemia tyrosine kinase deficiency" EXACT [] synonym: "Bruton disease" EXACT [] synonym: "Bruton-type (congenital X-linked) agammaglobulinemia" EXACT [] synonym: "Bruton-type agammaglobulinemia" EXACT [] synonym: "BTK deficiency" EXACT [] synonym: "congenital agammaglobulinemia" EXACT [] synonym: "IMD1" EXACT [] synonym: "immunodeficiency 1" EXACT [] synonym: "XLA" EXACT [] synonym: "X-linked hypoagammaglobulinemia" NARROW [] synonym: "X-linked hypogammaglobulinemia" NARROW [] xref: EFO:0003079 xref: MESH:C537409 xref: NCI:C3822 xref: ORDO:47 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:14181 name: calcific tendinitis xref: ICD10CM:M75.3 xref: ICD9CM:726.11 is_a: DOID:971 ! tendinitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:14183 name: alcoholic neuropathy def: "A condition where damage to the peripheral nervous system (including the peripheral elements of the autonomic nervous system) is associated with chronic ingestion of alcoholic beverages. The disorder may be caused by a direct effect of alcohol, an associated nutritional deficiency, or a combination of factors. Clinical manifestations include variable degrees of weakness; ATROPHY; PARESTHESIAS; pain; loss of reflexes; sensory loss; diaphoresis; and postural hypotension. (From Arch Neurol 1995;52(1):45-51; Adams et al., Principles of Neurology, 6th ed, p1146)" [MESH:D020269] synonym: "alcoholic axonal neuropathies" EXACT [] synonym: "Alcoholic Axonal Neuropathy" EXACT [] synonym: "Alcoholic Neuropathies" EXACT [] synonym: "Alcoholic Polyneuritides" EXACT [] synonym: "Alcoholic Polyneuritis" EXACT [] synonym: "Alcoholic Polyneuropathies" EXACT [] synonym: "Alcoholic Polyneuropathy" EXACT [] synonym: "Alcohol-Induced Peripheral Neuropathies" EXACT [] synonym: "Alcohol Induced Peripheral Neuropathy" EXACT [] synonym: "Alcohol-Induced Polyneuropathies" EXACT [] synonym: "Alcohol Induced Polyneuropathy" EXACT [] synonym: "Alcohol-Related Autonomic Polyneuropathies" EXACT [] synonym: "Alcohol Related Autonomic Polyneuropathy" EXACT [] synonym: "Alcohol-Related Polyneuropathies" EXACT [] synonym: "alcohol-related polyneuropathy" EXACT [] xref: EFO:1000803 xref: ICD10CM:G62.1 xref: ICD9CM:357.5 xref: MESH:D020269 xref: NCI:C26926 is_a: DOID:1389 ! polyneuropathy is_a: DOID:2537 ! inflammatory and toxic neuropathy is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System [Term] id: DOID:14184 name: polyneuropathy due to drug xref: ICD10CM:G62.0 xref: ICD9CM:357.6 xref: RDO:9002726 is_a: DOID:2537 ! inflammatory and toxic neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14188 name: frozen shoulder def: "A connective tissue disease characterized by restriction of both active and passive range of motion located_in the scapulohumeral joint and has_symptom pain and has_symptom restricted range of motion. (DO)" [https://www.mayoclinic.org/diseases-conditions/frozen-shoulder/symptoms-causes/syc-20372684 "DO"] synonym: "adhesions-capsulitis,shoulder" EXACT [] synonym: "adhesive capsulitis of shoulder" EXACT [] xref: EFO:1000941 xref: ICD10CM:M75.0 xref: ICD9CM:726.0 is_a: DOID:2965 ! bursitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14192 name: bicipital tenosynovitis xref: ICD9CM:726.12 is_a: DOID:970 ! tenosynovitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14199 name: posterior dislocation of lens xref: ICD10CM:H27.13 xref: ICD9CM:379.34 xref: RDO:9003053 is_a: DOID:1242 ! globe disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:14202 name: adult dermatomyositis synonym: "adult onset dermatomyositis" EXACT [SNOMEDCT_2005_07_31:402425006] synonym: "adult type dermatomyositides" EXACT [] synonym: "adult type dermatomyositis" EXACT [] xref: RDO:9002753 is_a: DOID:10223 ! dermatomyositis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14203 name: childhood type dermatomyositis alt_id: RDO:0016020 synonym: "childhood Dermatomyositis" EXACT [NCI2004_11_17:C27576] synonym: "childhood type dermatomyositides" EXACT [] synonym: "juvenile dermatomyositis" EXACT [] synonym: "juvenile myositis" EXACT [] xref: EFO:0000557 xref: ICD10CM:M33.0 xref: MESH:C000598745 xref: NCI:C27576 is_a: DOID:10223 ! dermatomyositis [Term] id: DOID:14213 name: hypophosphatasia def: "A syndrome characterized by disruption of mineralization of bones and teeth that has_material_basis_in mutation in the ALPL gene on chromosome 1p36.12. (DO)" [https://ghr.nlm.nih.gov/condition/hypophosphatasia "DO"] synonym: "deficiency of alkaline phosphatase" EXACT [] synonym: "hypophosphatasias" EXACT [] xref: GARD:6734 xref: ICD10CM:E83.39 xref: MESH:D007014 xref: NCI:C26798 xref: ORDO:436 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:14218 name: dihydropyrimidine dehydrogenase deficiency alt_id: MIM:274270 def: "A purine-pyrimidine metabolic disorder that is an autosomal recessive metabolic disorder in which there is absent or significantly decreased activity of dihydropyrimidine dehydrogenase, an enzyme involved in the metabolism of uracil and thymine. (DO)" [http://en.wikipedia.org/wiki/Dihydropyrimidine_dehydrogenase_deficiency "DO"] synonym: "5-fluorouracil toxicity" NARROW [] synonym: "dihydropyrimidine dehydrogenase deficiencies" EXACT [] synonym: "Dihydropyrimidinuria" EXACT [] synonym: "Dihydropyrimidinurias" EXACT [] synonym: "dihydrouracil dehydrogenase deficiency" EXACT [] synonym: "DPD Deficiencies" EXACT [] synonym: "DPD Deficiency" EXACT [] synonym: "DPYD DEFICIENCY" EXACT [] synonym: "Familial Pyrimidemia" EXACT [] synonym: "Familial Pyrimidemias" EXACT [] synonym: "familial pyrimidinaemia" EXACT [] synonym: "Familial Pyrimidinemia" EXACT [] synonym: "Familial Pyrimidinemias" EXACT [] synonym: "Hereditary Thymine Uraciluria" EXACT [] synonym: "Hereditary Thymine-Uracilurias" EXACT [] synonym: "thymine-uracilurea" EXACT [] xref: GARD:19 xref: MESH:D054067 xref: NCI:C3964 xref: NCI:C84672 is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:14219 name: renal tubular acidosis alt_id: MIM:179830 def: "A renal tubular transport disease characterized by excess levels of acid in the blood, due to a failure of the kidneys to appropriately acidify the urine. (DO)" [http://en.wikipedia.org/wiki/Renal_tubular_acidosis "DO", http://www.merckmanuals.com/professional/genitourinary_disorders/renal_transport_abnormalities/renal_tubular_acidosis_rta.html "DO"] synonym: "Distal Renal Tubular Acidosis" EXACT [] synonym: "Proximal Renal Tubular Acidosis" EXACT [] synonym: "proximal renal tubular acidosis with ocular abnormalities" EXACT [] synonym: "Proximal Type RTA" EXACT [] synonym: "Renal Tubular Acidosis II" EXACT [] synonym: "type II renal tubular acidosis" EXACT [] xref: GARD:7552 xref: ICD10CM:N25.89 xref: MESH:D000141 xref: NCI:C28129 is_a: DOID:447 ! renal tubular transport disease is_a: DOID:9002802 ! Acidoses [Term] id: DOID:14221 name: abdominal obesity-metabolic syndrome 1 def: "An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. (DO)" [https://en.wikipedia.org/wiki/Metabolic_syndrome "DO"] synonym: "AOMS1" EXACT [] synonym: "dysmetabolic syndrome X" EXACT [] synonym: "METABOLIC SYNDROME, PROTECTION AGAINST" RELATED [] synonym: "metabolic syndrome X" EXACT [] xref: EFO:0000195 xref: GARD:9226 xref: ICD10CM:E88.81 xref: ICD9CM:277.7 xref: MIM:605552 xref: NCI:C84442 is_a: DOID:0060611 ! abdominal obesity-metabolic syndrome [Term] id: DOID:14223 name: ochronosis def: "A connective tissue disease characterized by bluish-brown discoloration of connective tissues that develops from the deposition of homogentisic acid and subsequent oxidation and polymerization reactions. (DO)" [https://en.wikipedia.org/wiki/Ochronosis "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4681189/ "DO"] synonym: "ochronoses" EXACT [] xref: GARD:7231 xref: ICD10CM:E70.29 xref: MESH:D009794 xref: NCI:C84938 is_a: DOID:65 ! connective tissue disease is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:14224 name: tracheal calcification synonym: "calcification of trachea" EXACT [] xref: MONDO:0001911 xref: NCI:C35314 is_a: DOID:3225 ! tracheal disease created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:14225 name: acute frontal sinusitis def: "A frontal sinusitis which lasts for less than 4 weeks. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] xref: ICD10CM:J01.1 xref: ICD9CM:461.1 is_a: DOID:10791 ! frontal sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:14227 name: azoospermia def: "A male infertility disease characterized by the absence of any measurable level of sperm in semen. (DO)" [http://en.wikipedia.org/wiki/Azoospermia "DO", http://ghr.nlm.nih.gov/glossary=azoospermia "DO"] synonym: "idiopathic azoospermia" NARROW [] synonym: "OBSTRUCTIVE AZOOSPERMIA" NARROW [] xref: EFO:0000279 xref: ICD10CM:N46.0 xref: ICD9CM:606.0 xref: MESH:D053713 xref: NCI:C80076 xref: ORDO:217034 is_a: DOID:12336 ! male infertility [Term] id: DOID:14228 name: oligospermia def: "A male fertility issue defined as a low sperm concentration in the ejaculate. (DO)" [https://en.wikipedia.org/wiki/Oligospermia "DO"] synonym: "hypospermatogeneses" EXACT [] synonym: "hypospermatogenesis" EXACT [] synonym: "Low Sperm Count" EXACT [] synonym: "low sperm counts" EXACT [] synonym: "oligozoospermia" EXACT [] xref: ICD10CM:N46.1 xref: ICD9CM:606.1 xref: MESH:D009845 xref: NCI:C34860 is_a: DOID:12336 ! male infertility [Term] id: DOID:14230 name: scleromalacia perforans def: "A scleral disease that is characterized by a painless severe necrotizing scleritis where the sclera is white, avascular, and thin. The choroid can become exposed leading to infarction and necrosis of related areas; the sclera can also thin such that the dark uvea protrudes through the front of the eye, forming a staphyloma which has_symptom loss of vision and appearance of a dark bulge. Scleromalacia perforans is usually caused by a rare complication of autoimmune disease like rheumatoid arthritis. (DO)" [https://eyewiki.aao.org/Scleritis "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987604/ "DO"] xref: ICD10CM:H15.05 xref: ICD9CM:379.04 is_a: DOID:11343 ! scleral disease [Term] id: DOID:14233 name: orbital cyst xref: ICD10CM:H05.81 xref: ICD9CM:376.81 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:14239 name: gastrointestinal tularemia def: "A tularemia that results in formation of ulcerative lesions located in gastrointestinal tract. The infection has symptom fever, has symptom chills, has symptom malaise, has symptom muscle aches, and has symptom vomiting. (DO)" [https://www.cdc.gov/tularemia/index.html "DO"] synonym: "enteric tularemia" EXACT [] synonym: "intestinal tularaemia" EXACT [] xref: ICD9CM:021.1 is_a: DOID:2123 ! tularemia is_a: DOID:77 ! gastrointestinal system disease created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:14243 name: chronic perichondritis of pinna def: "A perichondritis of auricle which is persistent and long-lasting. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm "DO"] synonym: "chronic pinna perichondritis" EXACT [] xref: ICD9CM:380.02 xref: RDO:9004462 is_a: DOID:222 ! perichondritis of auricle created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:14244 name: epiphora due to excess lacrimation xref: ICD10CM:H04.21 xref: ICD9CM:375.21 is_a: DOID:13757 ! excessive tearing created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:14245 name: cystoid macular retinal degeneration synonym: "cystoid macular degeneration of retina" EXACT [] xref: ICD10CM:H35.35 xref: ICD9CM:362.53 is_a: DOID:2007 ! degeneration of macula and posterior pole created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:14247 name: chronic purulent otitis media def: "A suppurative otitis media which is persistent and long-lasting. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA128&lpg#v=onepage&q=&f=false "DO"] synonym: "chronic suppurative otitis media" EXACT [] xref: ICD10CM:H66.3 xref: ICD9CM:382.3 xref: NCI:C128386 is_a: DOID:11506 ! suppurative otitis media created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:14248 name: chronic atticoantral disease def: "A chronic purulent otitis media which involves perforation in the attic region (pars flaccida of the tympanic membrane) or at the posterosuperior margin, with in-growth of squamous epithelium into the middle ear. This is caused as a result of poor ventilation of the middle ear and episodes of infection. (DO)" [http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA114&lpg#v=onepage&q=&f=false "DO"] synonym: "chronic atticoantral suppurative otitis media" EXACT [] xref: ICD10CM:H66.2 xref: ICD9CM:382.2 xref: RDO:9002449 is_a: DOID:14247 ! chronic purulent otitis media created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:1425 name: pyoureter def: "Ureter abscess." [] synonym: "Ureter abscess" EXACT [NCI2004_11_17:C35666] xref: NCI:C35666 is_a: DOID:1426 ! ureteral disease [Term] id: DOID:14250 name: Down syndrome alt_id: MIM:190685 def: "A chromosomal disease that is characterized by flat-looking facial features and weak muscle tone (hypotonia) in infancy and is caused by trisomy of all or a critical portion of chromosome 21 and is associated with intellectual disability. (DO)" [http://en.wikipedia.org/wiki/Down_syndrome "DO", http://ghr.nlm.nih.gov/condition/down-syndrome "DO", http://www.nichd.nih.gov/health/topics/down/Pages/default.aspx "DO", http://www.omim.org/entry/190685?search=down%20syndrome&highlight=down%20syndromic%20syndrome "DO", https://research.nhgri.nih.gov/atlas/condition/trisomy-21 "DO"] synonym: "47,XX,+21" EXACT [] synonym: "47,XY,+21" EXACT [] synonym: "complete trisomy 21 syndrome" EXACT [] synonym: "DCR" NARROW [] synonym: "Down's syndrome" EXACT [] synonym: "Down's syndrome - trisomy 21" EXACT [] synonym: "Downs syndrome" EXACT [] synonym: "Down syndrome, critical region" NARROW [] synonym: "Down syndrome, susceptibility to" RELATED [] synonym: "DSCR" NARROW [] synonym: "megakaryoblastic leukemia of Down syndrome" NARROW [] synonym: "Mongolism" EXACT [] synonym: "Partial Trisomy 21 Down Syndrome" EXACT [] synonym: "Trisomy 21" EXACT [] synonym: "TRISOMY 21 DOWN SYNDROME CHROMOSOME REGION" NARROW [] synonym: "trisomy 21, meiotic nondisjunction" EXACT [] synonym: "trisomy 21, mitotic nondisjunction" EXACT [] synonym: "trisomy 21 syndrome" EXACT [] synonym: "trisomy G" EXACT [] xref: EFO:0001064 xref: GARD:10247 xref: ICD10CM:Q90 xref: ICD9CM:758.0 xref: MESH:D004314 xref: NCI:C2993 xref: NCI:C43224 xref: ORDO:870 is_a: DOID:1059 ! intellectual disability is_a: DOID:9003960 ! Trisomy is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:14251 name: vitreoretinal dystrophy synonym: "Vitreoretinal dystrophies" EXACT [ICD9CM_2006:362.73] xref: ICD10CM:H35.51 xref: ICD9CM:362.73 xref: RDO:9002924 is_a: DOID:8501 ! fundus dystrophy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:14252 name: dystrophies primarily involving the retinal pigment epithelium xref: ICD10CM:H35.54 xref: ICD9CM:362.76 xref: RDO:9002925 is_a: DOID:8501 ! fundus dystrophy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:14253 name: retinal dystrophy in systemic or cerebroretinal lipidoses xref: ICD9CM:362.71 is_a: DOID:8501 ! fundus dystrophy created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:14256 name: adult-onset Still's disease def: "A rheumatoid arthritis that is characterized by high fevers, rash, sore throat and joint pain. (DO)" [http://en.wikipedia.org/wiki/Adult-onset_Still%27s_disease "DO", http://www.mayoclinic.com/health/adult-stills-disease/DS00792 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000450.htm "DO", http://www.thedoctorwillseeyounow.com/content/arthritis/art1928.html "DO", https://www.aiarthritis.org/stillsdisease "DO"] synonym: "adult-onset Still disease" EXACT [] synonym: "adult-onset Stills disease" EXACT [] xref: EFO:0007135 xref: GARD:436 xref: ICD10CM:M06.1 xref: MESH:D016706 xref: NCI:C197832 is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:1426 name: ureteral disease def: "A urinary system disease that is located_in the ureter. (DO)" [http://www.nlm.nih.gov/medlineplus/ureteraldisorders.html "DO"] synonym: "ureteral diseases" EXACT [] xref: MESH:D014515 xref: NCI:C27148 is_a: DOID:18 ! urinary system disease [Term] id: DOID:14261 name: fragile X syndrome alt_id: MIM:300624 def: "A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. (DO)" [http://en.wikipedia.org/wiki/Fragile_X_syndrome "DO", http://omim.org/entry/300624 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=908 "DO"] synonym: "Fra(X) Syndrome" EXACT [] synonym: "fragile X-F mental retardation syndrome" EXACT [] synonym: "Fragile X Mental Retardation Syndrome" EXACT [] synonym: "Fragile X Syndromes" EXACT [] synonym: "FRAXA Syndrome" EXACT [] synonym: "FRAXA Syndromes" EXACT [] synonym: "Mar (X) Syndrome" EXACT [] synonym: "Marker X Syndrome" EXACT [] synonym: "Marker X Syndromes" EXACT [] synonym: "Martin Bell Syndrome" EXACT [] synonym: "X-linked mental retardation and macroorchidism" EXACT [] synonym: "X-linked mental retardation associated with MARXQ28" EXACT [] xref: GARD:6464 xref: ICD10CM:Q99.2 xref: ICD9CM:759.83 xref: MESH:D005600 xref: MONDO:0010383 xref: NCI:C84717 xref: ORDO:908 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9004151 ! Sex Chromosome Disorders is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:14262 name: oral candidiasis def: "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes. (DO)" [http://en.wikipedia.org/wiki/Oral_candidiasis "DO"] synonym: "candidiasis of mouth" EXACT [] synonym: "Oral Candidiases" EXACT [] synonym: "Oral Moniliases" EXACT [] synonym: "Oral Moniliasis" EXACT [] synonym: "oral thrush" EXACT [] synonym: "Thrush" EXACT [] xref: EFO:0007406 xref: ICD10CM:B37.9 xref: ICD9CM:112.0 xref: MESH:D002180 xref: NCI:C28137 is_a: DOID:1508 ! candidiasis is_a: DOID:403 ! mouth disease [Term] id: DOID:14264 name: benign neonatal seizures def: "A neonatal period electroclinical syndrome that is characterized by tonic-clonic seizures in newborns occurring within the first seven days of life and ceasing within the first 15 weeks of life and has_material_basis_in autosomal dominant inheritance of voltage-gated potassium channels or a chromosomal inversion. (DO)" [http://en.wikipedia.org/wiki/Benign_familial_neonatal_epilepsy "DO", http://www.ncbi.nlm.nih.gov/books/NBK32534/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=140927 "DO"] synonym: "Benign Neonatal Convulsion" EXACT [] synonym: "benign neonatal convulsions" EXACT [] synonym: "Benign Neonatal Epilepsies" EXACT [] synonym: "benign neonatal epilepsy" EXACT [] synonym: "Benign Neonatal-Infantile Epilepsies" EXACT [] synonym: "Benign Neonatal-Infantile Epilepsy" EXACT [] synonym: "Benign Neonatal Non Familial Convulsions" EXACT [] synonym: "benign neonatal nonfamilial epilepsy" EXACT [] synonym: "NEONATAL SEIZURE" EXACT [] synonym: "neonatal seizures" EXACT [] synonym: "non familial benign neonatal epilepsy" EXACT [] xref: MESH:D020936 xref: MIM:PS121200 xref: NCI:C84593 xref: ORDO:1949 is_a: DOID:0050702 ! neonatal period electroclinical syndrome is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:14265 name: pulmonary valve insufficiency def: "A pulmonary valve disease that occurs when the pulmonary valve is not strong enough to prevent backflow into the right ventricle. If it is secondary to pulmonary hypertension it is referred to as a Graham Steell murmur. (DO)" [http://en.wikipedia.org/wiki/pulmonary_insufficiency "DO"] synonym: "pulmonary incompetence" EXACT [] synonym: "pulmonary incompetence, non-rheumatic" EXACT [] synonym: "pulmonary insufficiency following trauma and surgery" EXACT [] synonym: "pulmonary regurg." EXACT [] synonym: "pulmonary regurgitation" EXACT [] synonym: "Pulmonary Valve Incompetence" EXACT [] synonym: "pulmonary valve regurgitation" EXACT [] synonym: "pulmonic insufficiency" EXACT [] synonym: "pulmonic valve regurgitation" EXACT [] xref: MESH:D011665 xref: NCI:C50848 xref: NCI:C51447 xref: NCI:C62436 is_a: DOID:5749 ! pulmonary valve disease [Term] id: DOID:14268 name: sclerosing cholangitis alt_id: MIM:617394 def: "Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS." [MESH:D015209] synonym: "fibrosing cholangitis" EXACT [] synonym: "ISOLATED NEONATAL SCLEROSING CHOLANGITIS" EXACT [] synonym: "neonatal sclerosing cholangiitis" NARROW [] synonym: "Sclerosing Cholangiitides" EXACT [] synonym: "Sclerosing Cholangiitis" EXACT [] synonym: "Sclerosing Cholangitides" EXACT [] xref: EFO:0004268 xref: ICD10CM:K83.09 xref: MESH:D015209 is_a: DOID:9446 ! cholangitis [Term] id: DOID:14269 name: suppurative cholangitis xref: NCI:C35336 is_a: DOID:9446 ! cholangitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14270 name: ascending cholangitis xref: ICD10CM:K83.0 xref: NCI:C35372 is_a: DOID:9446 ! cholangitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14271 name: acute cholangitis xref: NCI:C35334 is_a: DOID:9446 ! cholangitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14272 name: pericholangitis def: "Inflammation of the tissue surrounding the biliary ducts. (NCI)" [] xref: NCI:C34916 is_a: DOID:9446 ! cholangitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14275 name: atrophic vulva def: "A vulvar disease that is characterized by the presence of atrophy and associated with decreased estrogenization. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2800285/ "DO"] synonym: "atrophy of vulva" EXACT [] xref: ICD10CM:N90.5 xref: ICD9CM:624.1 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:14276 name: shoulder impingement syndrome def: "Compression of the ROTATOR CUFF tendons and subacromial bursa between the HUMERAL HEAD and the ACROMION of the SCAPULA. This condition is associated with subacromial BURSITIS, as well as rotator cuff (largely supraspinatus) and bicipital tendon INFLAMMATION." [MESH:D019534] synonym: "Coracohumeral Impingement" EXACT [] synonym: "coracohumeral impingements" EXACT [] synonym: "Coracohumeral Impingement Syndrome" EXACT [] synonym: "Coracohumeral Impingement Syndromes" EXACT [] synonym: "Coracoid Impingement Syndrome" EXACT [] synonym: "Coracoid Impingement Syndromes" EXACT [] synonym: "impingement syndrome of shoulder region" EXACT [] synonym: "Internal Impingement Syndrome" EXACT [] synonym: "Internal Impingement Syndromes" EXACT [] synonym: "Outlet Impingement" EXACT [] synonym: "Outlet Impingements" EXACT [] synonym: "Outlet Impingement Syndrome" EXACT [] synonym: "Outlet Impingement Syndromes" EXACT [] synonym: "Posterosuperior Glenoid Impingement" EXACT [] synonym: "Posterosuperior Glenoid Impingements" EXACT [] synonym: "Rotator Cuff Impingement" EXACT [] synonym: "Rotator Cuff Impingements" EXACT [] synonym: "Rotator Cuff Impingement Syndrome" EXACT [] synonym: "Shoulder Impingement Syndromes" EXACT [] synonym: "subacromial impingement" EXACT [] synonym: "Subacromial Impingement Syndrome" EXACT [] synonym: "subacromial impingement syndromes" EXACT [] xref: EFO:1001178 xref: ICD10CM:M75.4 xref: MESH:D019534 is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy is_a: DOID:9004155 ! Shoulder Injuries [Term] id: DOID:1428 name: endocrine pancreas disease def: "A pancreas disease that is located_in the endocrine component of the pancreas, consisting of islet cells (islets of Langerhans) that create and release important hormones directly into the bloodstream. (DO)" [https://columbiasurgery.org/pancreas/pancreas-and-its-functions "DO"] xref: ICD10CM:E16 xref: ICD9CM:251 is_a: DOID:26 ! pancreas disease [Term] id: DOID:14283 name: primary hypertrophic osteoarthropathy alt_id: MIM:119900 def: "A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists." [MESH:D010004] synonym: "CIO" NARROW [] synonym: "clubbing of digits" EXACT [] synonym: "COA" EXACT [] synonym: "cranioosteoarthropathies" EXACT [] synonym: "Cranioosteoarthropathy" EXACT [] synonym: "CURRARINO IDIOPATHIC OSTEOARTHROPATHY" NARROW [] synonym: "Digital Clubbing, Isolated Congenital" EXACT [] synonym: "FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD" NARROW [] synonym: "hereditary acropachies" EXACT [] synonym: "Hereditary Acropachy" EXACT [] synonym: "Idiopathic Hypertrophic Osteoarthropathy" EXACT [] synonym: "pachydermoperiostosis" EXACT [] synonym: "pachydermoperiostosis, autosomal recessive" EXACT [] synonym: "pachydermoperiostosis of nail" EXACT [] synonym: "pachydermoperiostosis syndrome" EXACT [] synonym: "PDP, autosomal recessive" NARROW [] synonym: "PHO, autosomal recessive" NARROW [] synonym: "primary hypertrophic osteoarthropathy, autosomal recessive" NARROW [] synonym: "Touraine-Solente-Gole syndrome" EXACT [] xref: ICD10CM:M89.4 xref: MESH:D010004 xref: MIM:PS259100 xref: NCI:C85023 is_a: DOID:0080001 ! bone disease is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy is_a: DOID:630 ! genetic disease [Term] id: DOID:14284 name: patellofemoral pain syndrome def: "A syndrome characterized by retropatellar or peripatellar PAIN resulting from physical and biochemical changes in the patellofemoral joint. The pain is most prominent when ascending or descending stairs, squatting, or sitting with flexed knees. There is a lack of consensus on the etiology and treatment. The syndrome is often confused with (or accompanied by) CHONDROMALACIA PATELLAE, the latter describing a pathological condition of the CARTILAGE and not a syndrome." [MESH:D046788] synonym: "Anterior Knee Pain Syndrome" EXACT [] synonym: "Patellofemoral Syndrome" EXACT [] xref: EFO:1001092 xref: MESH:D046788 is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy [Term] id: DOID:14286 name: neurogenic arthropathy def: "Chronic progressive degeneration of the stress-bearing portion of a joint, with bizarre hypertrophic changes at the periphery. It is probably a complication of a variety of neurologic disorders, particularly TABES DORSALIS, involving loss of sensation, which leads to relaxation of supporting structures and chronic instability of the joint. (Dorland, 27th ed)" [MESH:D001177] synonym: "Arthropathy associated with neurological disorder" EXACT [ICD9CM_2006:713.5] synonym: "Charcot's arthropathy" EXACT [SNOMEDCT_2005_07_31:239824003] synonym: "Charcot's Joint" EXACT [] synonym: "Charcot Joint" EXACT [] synonym: "Charcots Joint" EXACT [] synonym: "Neurogenic Arthropathies" EXACT [] synonym: "Neuropathic arthropathy" EXACT [SNOMEDCT_2005_07_31:201734004] xref: EFO:1001378 xref: ICD10CM:M14.6 xref: ICD9CM:713.5 xref: MESH:D001177 xref: RDO:0000478 is_a: DOID:381 ! arthropathy [Term] id: DOID:14287 name: brawny scleritis def: "An anterior scleritis that is characterized by painful inflammation and tender nodule formation of the anterior sclera and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. (DO)" [https://en.wikipedia.org/wiki/Scleritis "DO", https://www.aao.org/eye-health/diseases/what-is-scleritis "DO"] xref: ICD10CM:H15.02 xref: ICD9CM:379.06 is_a: DOID:13794 ! anterior scleritis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14289 name: Ebstein anomaly alt_id: MIM:224700 def: "A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart. (DO)" [http://en.wikipedia.org/wiki/Ebstein_anomaly "DO"] synonym: "Ebstein's Anomaly" EXACT [] synonym: "Ebstein's anomaly of common atrioventricular valve" EXACT [] synonym: "Ebstein's anomaly of right atrioventricular valve" EXACT [] synonym: "Ebstein's anomaly of tricuspid valve" EXACT [] synonym: "Ebstein's Malformation" EXACT [] synonym: "Ebstein Malformation" EXACT [] synonym: "Ebsteins Anomaly" EXACT [] synonym: "Ebsteins Malformation" EXACT [] synonym: "Familial Ebstein's Anomaly" EXACT [] synonym: "Familial Ebstein Anomaly" EXACT [] synonym: "Familial Ebsteins Anomaly" EXACT [] xref: EFO:0007244 xref: GARD:6313 xref: ICD10CM:Q22.5 xref: ICD9CM:746.2 xref: MESH:D004437 xref: NCI:C84681 is_a: DOID:0050826 ! tricuspid valve disease is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:14291 name: Noonan syndrome with multiple lentigines def: "A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome-with-multiple-lentigines#inheritance "DO", https://rarediseases.info.nih.gov/diseases/1100/leopard-syndrome "DO"] synonym: "Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome" EXACT [] synonym: "Cardiocutaneous syndrome" EXACT [] synonym: "cardio cutaneous syndrome" EXACT [] synonym: "cardio-cutaneous syndromes" EXACT [] synonym: "Cardiomyopathic Lentiginoses" EXACT [] synonym: "Cardiomyopathic Lentiginosis" EXACT [] synonym: "Gorlin syndrome II" EXACT [] synonym: "Lentiginosis Cardiomyopathics" EXACT [] synonym: "Lentiginosis profusa syndrome" EXACT [] synonym: "LEOPARD syndrome" EXACT [] synonym: "LEOPARD Syndromes" EXACT [] synonym: "Moynahan syndrome" EXACT [] synonym: "Multiple Lentigines Syndrome" EXACT [] synonym: "progressive cardiomyopathic lentiginoses" EXACT [] synonym: "progressive cardiomyopathic lentiginosis" EXACT [] xref: GARD:1100 xref: MESH:D044542 xref: MIM:PS151100 xref: NCI:C84820 xref: ORDO:500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:6420 ! pulmonary valve stenosis is_a: DOID:9000319 ! Lentigo is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:14292 name: vulvar dystrophy def: "A vulvar disease that is characterized as irregular patchy areas of thickened skin and severe itching. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1449423 "DO"] synonym: "dystrophy of vulva" EXACT [] xref: ICD10CM:N90.4 xref: ICD9CM:624.0 xref: NCI:C34565 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:14305 name: tuberculous empyema def: "A pleural empyema which involves presence of pus in the pleural cavity and calcified visceral pleura. It results from a large number of mycobacteria spilling into the pleural space, usually from rupture of a cavity or an adjacent paranchymal focus via a bronchopleural fistula. (DO)" [http://erj.ersjournals.com/cgi/reprint/10/4/942 "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=empyema "DO"] synonym: "tuberculous empyemas" EXACT [] synonym: "tuberculous pleural empyema" EXACT [] xref: EFO:0007528 xref: MESH:D004654 xref: NCI:C34575 is_a: DOID:106 ! pleural tuberculosis is_a: DOID:3798 ! pleural empyema [Term] id: DOID:14308 name: skin epithelioid hemangioma synonym: "Angiolymphoid Cutaneous hyperplasia" EXACT [NCI2004_11_17:C7393] synonym: "EFO:1001424" EXACT [] synonym: "epithelioid hemangioma of skin" EXACT [SNOMEDCT_2005_07_31:254791004] xref: EFO:1001424 xref: NCI:C7393 is_a: DOID:471 ! skin hemangioma is_a: DOID:474 ! histiocytoid hemangioma [Term] id: DOID:14319 name: pleuropneumonia def: "A pneumonia accompanied by inflammation of the pleura and accumulation of pus in the pleural space caused by bacteria. (DO)" [http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=pleural%20pneumonia&alt=sh "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=pleuropneumonia "DO"] synonym: "pleuropneumonias" EXACT [] xref: MESH:D011001 is_a: DOID:10247 ! pleurisy is_a: DOID:552 ! pneumonia [Term] id: DOID:1432 name: blindness def: "An eye disease characterized by a lack or loss of vision. (DO)" [https://en.wikipedia.org/wiki/Visual_impairment "DO", https://nei.nih.gov/eyedata/blind "DO", https://www.cdc.gov/healthcommunication/toolstemplates/entertainmented/tips/Blindness.html "DO"] synonym: "acquired blindness" EXACT [] synonym: "amauroses" EXACT [] synonym: "amaurosis" EXACT [] synonym: "antidepressant-induced visual impairment" NARROW [] synonym: "Complete Blindness" EXACT [] synonym: "Hysterical Blindness" EXACT [] synonym: "legal blindness" EXACT [] synonym: "monocular blindness" EXACT [] synonym: "transient blindness" EXACT [] synonym: "vision impairment" EXACT [] synonym: "vision loss" EXACT [] xref: EFO:0006323 xref: ICD10CM:H54 xref: ICD9CM:369 xref: MESH:D001766 is_a: DOID:5614 ! eye disease is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:14320 name: generalized anxiety disorder def: "An anxiety disorder that is characterized by long-lasting anxiety that is not focused on any one object or situation. (DO)" [http://en.wikipedia.org/wiki/Anxiety_disorder "DO"] xref: EFO:1001892 xref: ICD10CM:F41.1 xref: ICD9CM:300.02 xref: NCI:C92622 xref: RDO:9002663 is_a: DOID:2030 ! anxiety disorder created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:14323 name: Marfan syndrome alt_id: MIM:154700 def: "A connective tissue disease that is characterized by tall stature, elongated extremities, mitral valve prolapse, aortic dilatation, aortic dissection, and subluxation of the lens. (DO)" [https://ghr.nlm.nih.gov/condition/marfan-syndrome#inheritance "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34807 "DO", https://rarediseases.org/rare-diseases/marfan-syndrome/ "DO"] synonym: "Marfan's syndrome" EXACT [] synonym: "Marfanoid habitus" RELATED [] synonym: "Marfans syndrome" EXACT [] synonym: "Marfan syndrome, atypical" NARROW [] synonym: "Marfan Syndrome, Incomplete" NARROW [] synonym: "Marfan syndrome, mild variable" NARROW [] synonym: "Marfan syndrome, neonatal" NARROW [] synonym: "Marfan syndrome, severe classic" NARROW [] synonym: "Marfan syndrome, type I" EXACT [] synonym: "MFS" EXACT [] synonym: "MFS1" EXACT [] xref: GARD:6975 xref: ICD10CM:Q87.4 xref: ICD10CM:Q87.40 xref: ICD9CM:759.82 xref: MESH:D008382 xref: NCI:C34807 is_a: DOID:0080006 ! bone development disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:520 ! aortic disease is_a: DOID:5614 ! eye disease is_a: DOID:630 ! genetic disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:14324 name: Plasmodium malariae malaria def: "A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=malariae%20malaria "DO"] synonym: "Malaria by Plasmodium malariae" EXACT [MTHICD9_2006:084.2] synonym: "Quartan Malaria" EXACT [NCI2004_11_17:C34799] xref: ICD10CM:B52 xref: ICD9CM:084.2 xref: NCI:C34799 xref: RDO:9003908 is_a: DOID:12365 ! malaria created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14325 name: mixed malaria def: "A malaria that involves infection with more than one species of Plasmodium at the same time. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15105024 "DO"] synonym: "malaria by more than one parasite" EXACT [] synonym: "malaria fever by more than one parasite" EXACT [] xref: ICD9CM:084.5 is_a: DOID:12365 ! malaria created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14330 name: Parkinson's disease def: "A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions. (DO)" [http://en.wikipedia.org/wiki/Parkinson%27s_disease "DO", https://pubmed.ncbi.nlm.nih.gov/26474316/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC5877503/ "DO"] synonym: "familial Parkinson's disease" NARROW [] synonym: "Idiopathic Parkinson's Disease" EXACT [] synonym: "idiopathic Parkinson disease" EXACT [] synonym: "Lewy Body Parkinson's Disease" EXACT [] synonym: "Lewy Body Parkinson Disease" EXACT [] synonym: "Paralysis Agitans" EXACT [] synonym: "PARKINSON'S DISEASE, DOMINANT" EXACT [] synonym: "PARKINSON'S DISEASE, DOMINANT/RECESSIVE" EXACT [] synonym: "PARKINSON'S DISEASE, RECESSIVE" EXACT [] synonym: "Parkinson's disease, resistance to" RELATED [] synonym: "Parkinson's disease, susceptibility to" RELATED [] synonym: "Parkinson Disease" EXACT [] synonym: "PARKINSON DISEASE, AGE AT ONSET, SUSCEPTIBILITY TO" RELATED [] synonym: "PARKINSON DISEASE, DOMINANT" NARROW [] synonym: "PARKINSON DISEASE, DOMINANT/RECESSIVE" EXACT [] synonym: "PARKINSON DISEASE, RECESSIVE" NARROW [] synonym: "PARKINSON DISEASE, RESISTANCE TO" RELATED [] synonym: "Parkinson Disease, Susceptibility To" RELATED [] synonym: "PARKINSONISM/MELAS OVERLAP SYNDROME" NARROW [] synonym: "primary parkinsonism" EXACT [] xref: EFO:0002508 xref: GARD:10251 xref: ICD9CM:332 xref: MESH:D010300 xref: MIM:PS168600 xref: MONDO:0005180 xref: NCI:C26845 xref: ORDO:2828 is_a: DOID:0050890 ! synucleinopathy is_a: DOID:0080855 ! Parkinsonism [Term] id: DOID:14332 name: postencephalitic Parkinson disease def: "Parkinsonism following encephalitis, historically seen as a sequella of encephalitis lethargica (Von Economo Encephalitis). The early age of onset, the rapid progression of symptoms followed by stabilization, and the presence of a variety of other neurological disorders (e.g., sociopathic behavior; TICS; MUSCLE SPASMS; oculogyric crises; hyperphagia; and bizarre movements) distinguish this condition from primary PARKINSON DISEASE. Pathologic features include neuronal loss and gliosis concentrated in the MESENCEPHALON; SUBTHALAMUS; and HYPOTHALAMUS. (From Adams et al., Principles of Neurology, 6th ed, p754)" [MESH:D010301] synonym: "encephalitis lethargica type parkinsonism" EXACT [] synonym: "Parkinson's Disease, Postencephalitic" EXACT [] synonym: "Postencephalitic Economo Type Parkinsonism" EXACT [] synonym: "Post Encephalitic Parkinson's Disease" EXACT [] synonym: "Post Encephalitic Parkinson Disease" EXACT [] synonym: "Postencephalitic Parkinsonism" EXACT [] synonym: "Postencephalitis Parkinsonian Syndrome" EXACT [] synonym: "viral meningoencephalitic parkinsonism" EXACT [] synonym: "viral meningoencephalitic parkinsonisms" EXACT [] synonym: "von Economo encephalitis type parkinsonism" EXACT [] xref: EFO:1001402 xref: ICD10CM:G21.3 xref: MESH:D010301 xref: NCI:C34898 is_a: DOID:13548 ! secondary Parkinson disease [Term] id: DOID:14336 name: estrogen excess def: "An ovarian dysfunction that is characterized by a higher than normal ratio of estrogen. (DO)" [https://en.wikipedia.org/wiki/Hyperestrogenism "DO"] synonym: "hyperestrogenism" EXACT [] xref: EFO:0009004 xref: ICD10CM:E28.0 xref: ICD9CM:256.0 xref: NCI:C113344 xref: RDO:9003783 is_a: DOID:1414 ! ovarian dysfunction created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14350 name: suppurative thyroiditis def: "Acute inflammatory disease of the THYROID GLAND due to infections by BACTERIA; FUNGI; or other microorganisms. Symptoms include tender swelling, FEVER, and often with LEUKOCYTOSIS." [MESH:D013969] synonym: "acute infectious thyroiditides" EXACT [] synonym: "Acute Infectious Thyroiditis" EXACT [] synonym: "Acute Suppurative Thyroiditides" EXACT [] synonym: "Acute Suppurative Thyroiditis" EXACT [] synonym: "Infectious Thyroiditides" EXACT [] synonym: "Infectious Thyroiditis" EXACT [] synonym: "suppurative thyroiditides" EXACT [] xref: EFO:1001431 xref: MESH:D013969 xref: NCI:C129724 is_a: DOID:7166 ! thyroiditis is_a: DOID:9005889 ! Suppuration [Term] id: DOID:14351 name: Riedel's fibrosing thyroiditis synonym: "Riedel fibrosing thyroiditis" EXACT [] xref: ICD10CM:E06.5 xref: NCI:C35827 xref: RDO:9003748 is_a: DOID:9008207 ! Chronic Thyroiditis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14353 name: acute thyroiditis xref: ICD10CM:E06.0 xref: ICD9CM:245.0 is_a: DOID:7166 ! thyroiditis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1436 name: corneal ectasia xref: ICD10CM:H18.71 xref: ICD9CM:371.71 is_a: DOID:10124 ! corneal disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:14365 name: systemic primary carnitine deficiency disease alt_id: MIM:212140 def: "An amino acid metabolic disorder that involves defective proteins called carnitine transporters, which bring carnitine into cells and prevent its escape from the body preventing the body cannot utilize fats for energy. (DO)" [http://en.wikipedia.org/wiki/Carnitine_deficiency "DO"] synonym: "carnitine transporter deficiency" EXACT [] synonym: "carnitine transporter, plasma-membrane, deficiency of" EXACT [] synonym: "Carnitine uptake defect" EXACT [] synonym: "Carnitine Uptake Deficiency" EXACT [] synonym: "CDSP" EXACT [] synonym: "CUD" EXACT [] synonym: "primary carnitine deficiency" EXACT [] synonym: "renal carnitine transport defect" EXACT [] synonym: "SCD" EXACT [] synonym: "systemic carnitine deficiency" EXACT [] synonym: "systemic carnitine deficiency due to defect in renal reabsorption of carnitine" EXACT [] synonym: "systemic primary carnitine deficiency" EXACT [] xref: ICD10CM:E71.41 xref: ICD9CM:277.81 xref: MESH:C536778 xref: NCI:C98864 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0080000 ! muscular disease is_a: DOID:9008972 ! Hyperammonemia is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:14374 name: norwegian scabies def: "A scabies that involves infestation of human itch mite Sarcoptes scabiei type hominis in immunocompromised and elderly persons, which is characterized by vesicles and formation of thick crusts over the skin, accompanied by abundant mites but only slight itching. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm "DO"] synonym: "crusted scabies" EXACT [] xref: NCI:C34855 is_a: DOID:8295 ! scabies created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:14384 name: parietal lobe neoplasm def: "A cerebrum cancer that is located_in the parietal lobe. (DO)" [http://en.wikipedia.org/wiki/Parietal_lobe "DO"] synonym: "malignant neoplasm of parietal lobe" EXACT [] synonym: "tumor of parietal lobe" EXACT [] xref: ICD10CM:C71.3 xref: ICD9CM:191.3 xref: NCI:C5573 is_a: DOID:368 ! cerebrum cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:1439 name: pyuria def: "The presence of white blood cells (LEUKOCYTES) in the urine. It is often associated with bacterial infections of the urinary tract. Pyuria without BACTERIURIA can be caused by TUBERCULOSIS, stones, or cancer." [MESH:D011776] synonym: "pus cells in urine" EXACT [] synonym: "pyurias" EXACT [] xref: ICD10CM:R82.81 xref: MESH:D011776 xref: NCI:C119028 is_a: DOID:0080784 ! urinary tract infection is_a: DOID:18 ! urinary system disease [Term] id: DOID:14392 name: thrombophlebitis migrans def: "A thrombophlebitis that is characterized by repeated occurances of thrombophlebitis in different locations. (DO)" [http://en.wikipedia.org/wiki/Thrombophlebitis "DO"] xref: ICD10CM:I82.1 xref: ICD9CM:453.1 is_a: DOID:3875 ! thrombophlebitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:14397 name: protozoal dysentery def: "A dysentery that involves protozoan infection. (DO)" [http://en.wikipedia.org/wiki/Dysentery "DO"] xref: ICD10CM:A07.8 xref: ICD9CM:007.8 is_a: DOID:12384 ! dysentery [Term] id: DOID:1440 name: Machado-Joseph disease def: "An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene. (DO)" [http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease "DO", http://omim.org/entry/109150 "DO", http://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract "DO"] synonym: "autosomal dominant striatonigral degeneration" EXACT [] synonym: "Azorean ataxia" EXACT [] synonym: "Azorean disease" EXACT [] synonym: "Azorean Neurologic Disease" EXACT [] synonym: "Joseph Azorean Disease" EXACT [] synonym: "Joseph Disease" EXACT [] synonym: "Machado Joseph Azorean Disease" EXACT [] synonym: "Machado Joseph Disease Type I" EXACT [] synonym: "Machado Joseph Disease Type II" EXACT [] synonym: "Machado Joseph Disease Type III" EXACT [] synonym: "Machado Joseph Disease Type IV" EXACT [] synonym: "MJD" EXACT [] synonym: "Nervous System Azorean Disease" EXACT [] synonym: "Nigrospinodentatal Degeneration" EXACT [] synonym: "nigrospinodentatal degenerations" EXACT [] synonym: "SCA3" EXACT [] synonym: "Spinocerebellar Ataxia 3" EXACT [] synonym: "spinocerebellar ataxia type 3" EXACT [] synonym: "spinocerebellar atrophy III" EXACT [] synonym: "spinocerebellar atrophy type 3" EXACT [] synonym: "spinopontine atrophy" EXACT [] xref: EFO:0004135 xref: GARD:6801 xref: MESH:D017827 xref: MIM:109150 xref: MONDO:0007182 xref: NCI:C84830 xref: ORDO:98757 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:14400 name: capillary leak syndrome def: "A capillary disease characterized by hypotension, hypoalbuminemia, and hemoconcentration resulting from fluid and protein leakage out of capillaries into surrounding tissues. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5481509/ "DO"] synonym: "capillary leak syndromes" EXACT [] synonym: "Clarkson disease" EXACT [] synonym: "clinical capillary leak syndrome" EXACT [] synonym: "systemic capillary leak syndrome" EXACT [] xref: EFO:1001284 xref: EFO:1001477 xref: GARD:1084 xref: MESH:D019559 xref: NCI:C62578 xref: ORDO:188 is_a: DOID:1271 ! capillary disease is_a: DOID:225 ! syndrome [Term] id: DOID:14402 name: critical illness polyneuropathy xref: ICD10CM:G62.81 xref: ICD9CM:357.82 xref: RDO:9002724 is_a: DOID:2537 ! inflammatory and toxic neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1441 name: autosomal dominant cerebellar ataxia def: "A cerebellar ataxia that has_material_basis_in autosomal dominant inheritance. (DO)" [http://www.ncbi.nlm.nih.gov/books/NBK1138/ "DO", http://www.ncbi.nlm.nih.gov/books/NBK22234/ "DO"] xref: MIM:PS164400 xref: NCI:C82341 xref: ORDO:94 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050753 ! cerebellar ataxia created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14413 name: labyrinthine bilateral reactive loss synonym: "bilateral loss of labyrinthine reactivity" EXACT [] xref: ICD9CM:386.56 is_a: DOID:566 ! labyrinthine dysfunction created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:14415 name: Legg-Calve-Perthes disease alt_id: MIM:150600 def: "An osteochondrosis that results_in death and fracture located_in hip joint. (DO)" [http://en.wikipedia.org/wiki/Legg%E2%80%93Calv%C3%A9%E2%80%93Perthes_syndrome "DO"] synonym: "Calve - Perthes' disease" EXACT [] synonym: "coxa plana" EXACT [] synonym: "Juvenile osteochond-hip/pelvis" EXACT [] synonym: "juvenile osteochondrosis of hip and/or pelvis" EXACT [] synonym: "juvenile osteochondrosis of hip and pelvis" EXACT [] synonym: "LCP" EXACT [] synonym: "LCPD" EXACT [] synonym: "Legg-Calve-Perthes symptom" RELATED [] synonym: "Legg Calve Perthes Syndrome" EXACT [] synonym: "Legg Calvé Perthes Disease" EXACT [] synonym: "Legg Calvé Perthes Syndrome" EXACT [] synonym: "Legg Perthes Disease" EXACT [] synonym: "Osteochondritis Deforman" EXACT [] synonym: "Osteochondritis Deformans" EXACT [] synonym: "osteochondrosis of Legg-Calve-Perthes" EXACT [] synonym: "Perthe's disease" EXACT [] synonym: "Perthes disease" EXACT [] synonym: "pseudocoxalgia" EXACT [] xref: EFO:0007341 xref: GARD:6874 xref: ICD10CM:M91.2 xref: ICD10CM:M91.3 xref: MESH:D007873 xref: MONDO:0007885 xref: NCI:C34766 is_a: DOID:8125 ! osteochondrosis is_a: DOID:9003049 ! Femur Head Necrosis [Term] id: DOID:14418 name: dracunculiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection by the larvae of the nematode Dracunculus medinensis, which are transmitted to humans by drinking water containing copepods infected with the larvae. The female, which contains larvae, burrows into the deeper connective tissues or adjacent to long bones or joints of the extremities. The worm emerges as a whitish filament in the center of a painful ulcer, accompanied by inflammation and frequently by secondary bacterial infection. (DO)" [http://en.wikipedia.org/wiki/Dracunculiasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Dracunculiasis.htm "DO"] synonym: "dracontiasis" EXACT [] synonym: "dracunculiases" EXACT [] synonym: "Dracunculoses" EXACT [] synonym: "Dracunculosis" EXACT [] synonym: "Guinea Worm Disease" EXACT [] synonym: "Guinea Worm Diseases" EXACT [] synonym: "Guinea Worm Infection" EXACT [] synonym: "infection by Dracunculus medinensis" EXACT [] xref: EFO:0007241 xref: GARD:6286 xref: ICD10CM:B72 xref: ICD9CM:125.7 xref: MESH:D004320 xref: NCI:C84677 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9003105 ! Spirurida Infections [Term] id: DOID:14422 name: dipetalonemiasis def: "A filariasis that is a zoonotic infection caused by the nematode of the genus Dipetalonema, which is transmitted accidentally to humans from porcupines, beavers and other mammals by mosquitoes. The adult worms live subcutaneously or in body cavities or in the eyes of humans. Dead worms cause hypersensitivity necrosis with eosinophils, followed by granulomatous reaction and fibrosis. (DO)" [http://books.google.com/books?id=OBZbR4vpg0YC&pg=PA158&lpg#v=onepage&q&f=false "DO"] synonym: "dipetalonema infection" EXACT [] synonym: "dipetalonema Infections" EXACT [] synonym: "dipetalonema infectious disease" EXACT [] synonym: "dipetalonemiases" EXACT [] synonym: "infection by dipetalonema" EXACT [] synonym: "infection by dipetalonema perstans" EXACT [] xref: EFO:0007237 xref: ICD9CM:125.4 xref: MESH:D004154 xref: NCI:C34540 is_a: DOID:1080 ! filariasis is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease [Term] id: DOID:14423 name: glossopharyngeal neuralgia synonym: "glossopharyngeal neuralgias" EXACT [] xref: GARD:6519 xref: ICD10CM:G52.1 xref: ICD9CM:352.1 is_a: DOID:3418 ! glossopharyngeal nerve disease created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:14427 name: abnormality of glucagon secretion synonym: "glucagon secretion abnormality" EXACT [] xref: ICD9CM:251.4 is_a: DOID:1428 ! endocrine pancreas disease [Term] id: DOID:1443 name: cerebral degeneration def: "A brain disease that is characterized by loss of structure or function of neurons, including death of neurons and loss of brain tissue. (DO)" [https://en.wikipedia.org/wiki/Neurodegeneration "DO"] synonym: "brain degeneration" EXACT [] xref: GARD:6019 xref: ICD9CM:331.9 is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14435 name: chronic tubotympanic suppurative otitis media def: "A suppurative otitis media which is an inflammatory disease of the middle ear cleft characterized by the presence of a persisting perforation within the pars tensa of the tympanic membrane, intermittent profuse muco-purulent otorrhea and gradually progressive conductive hearing loss of more than 12 weeks duration. It is caused by episodes of upper respiratory infections. (DO)" [http://books.google.com/books?id=Dvl0V7DzoSMC&pg=PA101&lpg#v=onepage&q=&f=false "DO"] xref: ICD10CM:H66.1 xref: ICD9CM:382.1 is_a: DOID:11506 ! suppurative otitis media created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:14443 name: cholinergic urticaria def: "A physical urticaria induced by sweating. (DO)" [http://en.wikipedia.org/wiki/Cholinergic_urticaria "DO", http://www.dermnetnz.org/reactions/urticaria.html "DO"] xref: EFO:1000679 xref: ICD10CM:L50.5 xref: ICD9CM:708.5 is_a: DOID:0060220 ! physical urticaria created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:14444 name: sclerosing keratitis def: "A deep keratitis that is characterized by inflammation of the anterior sclera and subsequent inflammation of the adjacent cornea with opacification of the corneal stroma and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Sclerosing keratitis is caused by severe anterior scleritis that causes inflammation and injury to the adjacent corneal layer. Anterior scleritis can be caused by autoimmune diseases, connective tissue diseases, and infection. (DO)" [https://www.aao.org/eye-health/diseases/what-is-scleritis "DO"] synonym: "sclerokeratitis" EXACT [] xref: ICD10CM:H16.33 xref: ICD9CM:370.54 is_a: DOID:13794 ! anterior scleritis is_a: DOID:9858 ! deep keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14445 name: chronic closed-angle glaucoma def: "A primary angle-closure glaucoma characterized by chronic and progressive narrowing of the anterior chamber angle by an intrinsic defect such that aqueous outflow is blocked and the intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Chronic closed-angle glaucoma has_symptom progressive loss of peripheral vision, decreased vision, and occasionally headaches. Chronic closed-angle glaucoma can be caused by anatomically narrow angle, defects in the trabecular meshwork, and iris abnormalities. Primary angle-closure glaucoma has a strong genetic component. (DO)" [https://eyewiki.aao.org/Primary_vs._Secondary_Angle_Closure_Glaucoma "DO"] synonym: "anatomical narrow angle glaucoma" EXACT [] synonym: "chronic angle-closure glaucoma" EXACT [] synonym: "chronic narrow angle glaucoma" EXACT [] xref: ICD10CM:H40.22 xref: ICD9CM:365.23 is_a: DOID:1405 ! primary angle-closure glaucoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:14447 name: gonadal dysgenesis alt_id: MIM:600171 def: "A disorder of sexual development that is characterized by a progressive loss of germ cells on the developing gonads of an embryo. (DO)" [http://en.wikipedia.org/wiki/Gonadal_dysgenesis "DO"] synonym: "gonadal agenesis" EXACT [] synonym: "gonadal dysgenesis syndrome" EXACT [] xref: GARD:2538 xref: ICD9CM:758.6 xref: MESH:D006059 xref: NCI:C61420 is_a: DOID:1923 ! disorder of sexual development is_a: DOID:1924 ! hypogonadism [Term] id: DOID:14448 name: 46,XY sex reversal def: "A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. (DO)" [http://en.wikipedia.org/wiki/XY_gonadal_dysgenesis "DO", https://ghr.nlm.nih.gov/condition/swyer-syndrome#synonyms "DO"] synonym: "46,XY Complete Gonadal Dysgenesis" EXACT [] synonym: "46,XY DSD/46,XY CGD" EXACT [] synonym: "46 XY gonadal dysgenesis" EXACT [] synonym: "46, XY Gonadal Sex Reversal" EXACT [] synonym: "Pure Gonadal Dysgenesis 46,XY" EXACT [] synonym: "Swyer Syndrome" EXACT [] synonym: "XY pure gonadal dysgenesis" EXACT [] xref: MESH:D006061 xref: MIM:PS400044 xref: NCI:C120198 xref: ORDO:242 is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:14449 name: mixed gonadal dysgenesis def: "A gonadal dysgenesis that is characterized by progressive loss of primordial cells on the developing glands of an embryo, leading to extremely hypoplastic and dysfuctioning gonads resulting in one differentiated gonad and either a streak gonad or streak testis. (DO)" [https://www.pathologyoutlines.com/topic/ovarynontumormixedgonadaldysgenesis.html "DO"] xref: MESH:D006060 xref: NCI:C120199 is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development [Term] id: DOID:14450 name: 46 XX gonadal dysgenesis alt_id: DOID:9004526 def: "A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. (DO)" [http://en.wikipedia.org/wiki/XX_gonadal_dysgenesis "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=243 "DO"] synonym: "Gonadal Dysgenesis, XX Type" EXACT [] synonym: "Ovarian Dysgenesis" EXACT [] synonym: "Pure Gonadal Dysgenesis, 46,XX" EXACT [] synonym: "XXGD" EXACT [] synonym: "XX Gonadal Dysgenesis" EXACT [] xref: MESH:D023961 xref: MIM:PS233300 xref: NCI:C120197 xref: ORDO:243 is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:9005851 ! 46, XX Disorders of Sex Development is_a: DOID:9006101 ! Primary Ovarian Failure [Term] id: DOID:14451 name: hyperkalemic periodic paralysis alt_id: MIM:170500 alt_id: RDO:0000513 def: "An autosomal dominant familial disorder which presents in infancy or childhood and is characterized by episodes of weakness associated with hyperkalemia. During attacks, muscles of the lower extremities are initially affected, followed by the lower trunk and arms. Episodes last from 15-60 minutes and typically occur after a period of rest following exercise. A defect in skeletal muscle sodium channels has been identified as the cause of this condition. Normokalemic periodic paralysis is a closely related disorder marked by a lack of alterations in potassium levels during attacks of weakness. (Adams et al., Principles of Neurology, 6th ed, p1481)" [MESH:D020513] synonym: "Adynamia Episodica Hereditaria" EXACT [] synonym: "Adynamia Episodica Hereditaria with or without Myotonia" EXACT [] synonym: "Familial Hyperkalemic Periodic Paralysis" EXACT [] synonym: "Gamstorp Disease" EXACT [] synonym: "GAMSTORP DISEASE NORMOKALEMIC PERIODIC PARALYSIS, POTASSIUM-SENSITIVE" NARROW [] synonym: "Gamstorp Episodic Adynamy" EXACT [] synonym: "HYPERKALEMIC PERIODIC PARALYSIS TYPE 1" EXACT [] synonym: "Hyperkalemic Periodic Paralysis Type 2" EXACT [] synonym: "Hyperkaliemic Periodic Paralysis Type 2" EXACT [] synonym: "HyperKPP" EXACT [] synonym: "HyperPP" EXACT [] synonym: "HYPP" EXACT [] synonym: "Myotonic Periodic Paralysis" EXACT [] synonym: "PARAMYOTONIA CONGENITA/HYPERKALEMIC PERIODIC PARALYSIS" NARROW [] synonym: "Primary Hyperkalemic Periodic Paralysis" EXACT [] synonym: "Sodium Channel Muscle Disease" EXACT [] xref: GARD:195 xref: ICD10CM:G72.3 xref: MESH:D020513 xref: NCI:C123429 xref: ORDO:682 is_a: DOID:1029 ! familial periodic paralysis [Term] id: DOID:14452 name: hypokalemic periodic paralysis def: "An autosomal dominant familial disorder characterized by recurrent episodes of skeletal muscle weakness associated with falls in serum potassium levels. The condition usually presents in the first or second decade of life with attacks of trunk and leg paresis during sleep or shortly after awakening. Symptoms may persist for hours to days and generally are precipitated by exercise or a meal high in carbohydrates. (Adams et al., Principles of Neurology, 6th ed, p1483)" [MESH:D020514] synonym: "familial hypokalemic periodic paralysis" EXACT [] synonym: "familial periodic paralysis" EXACT [] synonym: "HOKPP" EXACT [] synonym: "HYPOKPP" EXACT [] synonym: "HYPOPP" EXACT [] synonym: "Periodic Paralysis- Hypokalemics" EXACT [] synonym: "periodic paralysis I" EXACT [] synonym: "Primary Hypokalemic Periodic Paralysis" EXACT [] synonym: "Westphall disease" EXACT [] xref: GARD:5557 xref: GARD:6729 xref: MESH:D020514 xref: NCI:C84775 xref: ORDO:681 is_a: DOID:1029 ! familial periodic paralysis [Term] id: DOID:14453 name: farmer's lung def: "An extrinsic allergic alveolitis which is induced by the inhalation of spores (Aspergillus sp and thermophilic actinomycetes) in dust from moldy hay or straw. It is characterized by sudden onset, fever, cough, expectoration, and breathlessness. (DO)" [http://www.merck.com/media/mmpe/pdf/Table_055-5.pdf "DO", http://www.merriam-webster.com/dictionary/farmer%27s%20lung "DO"] synonym: "farmer's lungs" EXACT [] synonym: "farmer lung" EXACT [] synonym: "farmers lung" EXACT [] xref: GARD:6427 xref: ICD10CM:J67.0 xref: ICD9CM:495.0 xref: MESH:D005203 xref: NCI:C34605 is_a: DOID:841 ! extrinsic allergic alveolitis is_a: DOID:9006538 ! Agricultural Workers' Diseases [Term] id: DOID:14456 name: Brucella melitensis brucellosis def: "A brucellosis that involves an infection caused by Brucella melitensis [NCBITaxon:29459] in cattle, goats, sheep and humans. The disease has_symptom fever, has_symptom malaise, has_symptom anorexia, has_symptom limb pain and has_symptom back pain. (DO)" [http://www.bmj.com/cgi/reprint/1/5644/612.pdf "DO"] xref: ICD10CM:A23.0 xref: ICD9CM:023.0 is_a: DOID:11077 ! brucellosis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:14457 name: Brucella abortus brucellosis def: "A brucellosis that involves an infection caused by Brucella abortus [NCBITaxon:235] in cattle and humans. The disease has_symptom fever, has_symptom chills, has_symptom sweats, has_symptom weight loss, has_symptom malaise, has_symptom headaches, has_symptom myalgia, and has_symptom arthralgia. (DO)" [http://www.cdc.gov/ncidod/dbmd/diseaseinfo/Brucellosis_g.htm "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/10790142 "DO"] synonym: "Bang's disease" EXACT [] synonym: "Bang disease" EXACT [] synonym: "Bangs disease" EXACT [] synonym: "bovine brucelloses" EXACT [] synonym: "bovine brucellosis" EXACT [] xref: ICD10CM:A23.1 xref: ICD9CM:023.1 xref: MESH:D002007 is_a: DOID:11077 ! brucellosis is_a: DOID:9001718 ! Veterinary Abortion is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:14459 name: hemangioma of orbit synonym: "angioma of the orbit" EXACT [NCI2004_11_17:C6245] xref: NCI:C6245 xref: RDO:9004226 is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:255 ! hemangioma is_a: DOID:9002262 ! Orbital Neoplasms created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:14463 name: cavernous hemangioma of orbit synonym: "cavernous angioma of orbit" EXACT [] xref: NCI:C4546 is_a: DOID:483 ! cavernous hemangioma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:14464 name: neuroleptic malignant syndrome def: "A nervous system disease that is characterized by hyperthermia, muscular rigidity, autonomic dysfunction and altered consciousness and is associated with administration of antipsychotic and other central dopaminergic blockers. (DO)" [http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=12561 "DO"] synonym: "Neuroleptic Induced Neuroleptic Malignant Syndrome" EXACT [] synonym: "Neuroleptic Malignant Syndromes" EXACT [] synonym: "NMS (Neuroleptic Malignant Syndrome)" EXACT [] xref: EFO:1001379 xref: GARD:7195 xref: ICD10CM:G21.0 xref: ICD9CM:333.92 xref: MESH:D009459 xref: NCI:C94829 xref: ORDO:94093 is_a: DOID:3602 ! toxic encephalopathy is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:14472 name: hantavirus pulmonary syndrome def: "A viral infectious disease that results in infection located in lung, has_material_basis_in Orthohantavirus sinnombreense, transmitted by deer mouse (Myodes glareolus), has_material_basis_in Orthohantavirus nigrorivense, transmitted by cotton rat (Sigmodon hispidus), has_material_basis_in Orthohantavirus bayoui, transmitted by marsh rice rat (Oryzomys palustris), has_material_basis_in Orthohantavirus negraense, transmitted by small vesper mouse (Calomys laucha), or has_material_basis_in Orthohantavirus andesense, transmitted by rice rat (Oligoryzomys longicaudatus). The infection has _symptom fever, muscle pain, headache, cough, vomiting, and chills which rapidly progress to bilateral interstitial pulmonary infiltrates occurrence, pulmonary edema and hypoxia often resulting in death from shock or cardiac complications. (DO)" [http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false "DO", http://www.cdc.gov/ncidod/diseases/hanta/hps/noframes/generalinfoindex.htm "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/10742726 "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=hantavirus%20pulmonary%20syndrome "DO"] synonym: "Hantavirus Associated Respiratory Distress Syndrome" EXACT [] synonym: "Hantavirus Pulmonary Syndromes" EXACT [] synonym: "HARDS" EXACT [] xref: EFO:0007296 xref: GARD:69 xref: MESH:D018804 xref: NCI:C84747 is_a: DOID:11162 ! respiratory failure is_a: DOID:225 ! syndrome is_a: DOID:9007533 ! Hantavirus Infections [Term] id: DOID:14482 name: pemphigoid gestationis def: "A pemphigoid that is characterized by erythematous papules, vesicles, and plaques around the trunk and extremities that develop during pregnancy, particularly during the second and third trimesters, has_symptom pruritis, and has_material_basis_in autoantibodies to the basement membrane, which triggers a complement cascade and attracts eosinophils to the subepidermis. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062810/ "DO"] synonym: "gestational herpes" EXACT [] synonym: "gestational pemphigoid" EXACT [] synonym: "gestational pemphigoids" EXACT [] synonym: "herpes gestationis" EXACT [] synonym: "pemphigoid gestationi" EXACT [] xref: EFO:1000709 xref: ICD10CM:O26.40 xref: MESH:D006559 xref: NCI:C85003 is_a: DOID:0080841 ! pemphigoid is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:14483 name: chorea gravidarum def: "A rare movement disorder developed during PREGNANCY, characterized by involuntary jerky motion (CHOREA) and inability to maintain stable position of body parts (ATHETOSIS). RHEUMATIC FEVER and collagen vascular disorders are frequently associated with this disease. Chorea may vary from mild to severe and occurs in approximately 1 per 2,000 to 3,000 pregnancies. (From Md Med J 1997 Sep;46(8):436-9)" [MESH:D020150] synonym: "chorea gravidarums" EXACT [] synonym: "Pregnancy-Associated Choreoathetoses" EXACT [] synonym: "Pregnancy-Associated Choreoathetosis" EXACT [] synonym: "Pregnancy-Induced Chorea" EXACT [] synonym: "pregnancy-induced choreas" EXACT [] xref: EFO:1001290 xref: MESH:D020150 is_a: DOID:12859 ! choreatic disease is_a: DOID:679 ! basal ganglia disease is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:14484 name: sporotrichosis def: "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Sporothrix schenckii in animals and humans and results_in_formation_of red papule at the site of inoculation. (DO)" [https://www.health.ny.gov/diseases/communicable/sporotrichosis/fact_sheet.htm "DO"] synonym: "sporotrichoses" EXACT [] xref: EFO:0007494 xref: GARD:7692 xref: ICD10CM:B42 xref: ICD9CM:117.1 xref: MESH:D013174 is_a: DOID:0050292 ! primary systemic mycosis is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:14489 name: ureteral lymphoma synonym: "lymphoma of ureter" EXACT [] xref: NCI:C6175 is_a: DOID:0060058 ! lymphoma is_a: DOID:11819 ! ureter cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:14491 name: regional ureteric cancer synonym: "regional malignant ureteral tumor" EXACT [] synonym: "regional ureteric carcinoma" EXACT [] xref: NCI:C8716 xref: NCI:C9356 is_a: DOID:4939 ! ureter carcinoma [Term] id: DOID:14495 name: dumping syndrome def: "Gastrointestinal symptoms resulting from an absent or nonfunctioning pylorus." [MESH:D004377] synonym: "Dumping (jejunal) syndrome" EXACT [SNOMEDCT_2005_07_31:197128007] synonym: "Dumping Syndromes" EXACT [] synonym: "Jejunal syndrome" EXACT [MTHICD9_2006:564.2] xref: EFO:1001307 xref: ICD10CM:K91.1 xref: MESH:D004377 xref: NCI:C2994 xref: RDO:0005396 is_a: DOID:8439 ! postgastrectomy syndrome [Term] id: DOID:14497 name: Wolman disease alt_id: MIM:620151 def: "A lysosomal acid lipase deficiency characterized by infantile onset of rapidly progressive accumulation of cholesteryl esters and triglycerides throughout the body, resulting in hepatosplenomegaly, severe malnutrition, jaundice, vomiting, diarrhea, steatorrhea. Death usually occurs within the first year of life. (DO)" [https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK395569/ "DO", MESH:D015223] synonym: "acid cholesteryl ester hydrolase deficiency, Wolman type" EXACT [] synonym: "acid esterase deficiency" EXACT [] synonym: "acid lipase deficiency" EXACT [] synonym: "acute infantile lysosomal acid lipase deficiency" EXACT [] synonym: "complete cholesterol ester hydrolase deficiency" EXACT [] synonym: "complete lysosomal acid lipase deficiency" EXACT [] synonym: "familial xanthomatoses" EXACT [] synonym: "familial xanthomatosis" EXACT [] synonym: "LAL deficiency, complete" EXACT [] synonym: "LIPA deficiency, complete" EXACT [] synonym: "liposomal acid lipase deficiency, Wolman type" EXACT [] synonym: "WOLD" EXACT [] synonym: "Wolman's disease" EXACT [] synonym: "Wolman's or triglyceride storage type III disease" EXACT [] synonym: "Wolman's xanthomatosis" EXACT [] synonym: "Wolmans disease" EXACT [] synonym: "Wolmans xanthomatosis" EXACT [] synonym: "Wolman xanthomatosis" EXACT [] xref: GARD:7899 xref: ICD10CM:E75.5 xref: MESH:D015223 xref: NCI:C61271 xref: ORDO:75233 is_a: DOID:0080217 ! lysosomal acid lipase deficiency is_a: DOID:14502 ! cholesterol ester storage disease is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:14498 name: lipoid proteinosis alt_id: MIM:247100 def: "An autosomal recessive disorder characterized by glassy degenerative thickening (hyalinosis) of SKIN; MUCOSA; and certain VISCERA. This disorder is caused by mutation in the extracellular matrix protein 1 gene (ECM1). Clinical features include hoarseness and skin eruption due to widespread deposition of HYALIN." [MESH:D008065] synonym: "hyalinosis cutis et mucosae" EXACT [] synonym: "lipid proteinosis" EXACT [] synonym: "Lipoidproteinosis" EXACT [] synonym: "Lipoid Proteinosis of Urbach and Wiethe" EXACT [] synonym: "Lipoproteinosis" EXACT [] synonym: "Urbach Wiethe Disease" EXACT [] synonym: "Urbach-Wiethe lipoid proteinosis" EXACT [] synonym: "Urbach-Wiethe syndrome" EXACT [] xref: GARD:3268 xref: MESH:D008065 xref: NCI:C84829 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9008513 ! Hoarseness [Term] id: DOID:14499 name: Fabry disease alt_id: MIM:301500 def: "A sphingolipidosis that is characterized by the buildup of globotriaosylceramide in the body's cells and has_material_basis_in X-linked inherited mutations in the GLA gene, encoding alpha-galactosidase A, on chromosome Xq22. (DO)" [https://ghr.nlm.nih.gov/condition/fabry-disease "DO"] synonym: "alpha galactosidase A deficiency" EXACT [] synonym: "alpha galactosidase A deficiency disease" EXACT [] synonym: "alpha galactosidase deficiency" EXACT [] synonym: "Anderson-Fabry disease" EXACT [] synonym: "angiokeratoma corporis diffusum" EXACT [] synonym: "angiokeratoma diffuse" EXACT [] synonym: "ceramide trihexosidase deficiency" EXACT [] synonym: "deficiency of melibiase" EXACT [] synonym: "Fabry's disease" EXACT [] synonym: "GLA deficiency" EXACT [] synonym: "hereditary dystopic lipidosis" EXACT [] xref: GARD:6400 xref: ICD10CM:E75.21 xref: MESH:D000795 xref: NCI:C84701 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0112313 ! brain small vessel disease is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:14500 name: fucosidosis alt_id: MIM:230000 alt_id: OMIA:000396 def: "An autosomal recessive lysosomal storage disease caused by a deficiency of ALPHA-L-FUCOSIDASE activity resulting in an accumulation of fucose containing SPHINGOLIPIDS; GLYCOPROTEINS, and mucopolysaccharides (GLYCOSAMINOGLYCANS) in lysosomes. The infantile form (type I) features psychomotor deterioration, MUSCLE SPASTICITY, coarse facial features, growth retardation, skeletal abnormalities, visceromegaly, SEIZURES, recurrent infections, and MACROGLOSSIA, with death occurring in the first decade of life. Juvenile fucosidosis (type II) is the more common variant and features a slowly progressive decline in neurologic function and angiokeratoma corporis diffusum. Type II survival may be through the fourth decade of life. (From Menkes, Textbook of Child Neurology, 5th ed, p87; Am J Med Genet 1991 Jan;38(1):111-31)" [MESH:D005645] synonym: "A-fucosidase deficiency" EXACT [] synonym: "alpha-fucosidase deficiency" EXACT [] synonym: "alpha Fucosidase Deficiency Disease" EXACT [] synonym: "alpha-Fucosidase Deficiency Diseases" EXACT [] synonym: "alpha-L-Fucosidase Deficiency" EXACT [] synonym: "alpha L Fucosidase Deficiency Disease" EXACT [] synonym: "alpha-L-Fucosidase Deficiency Diseases" EXACT [] synonym: "FUCA1-RELATED CONDITION" EXACT [] synonym: "Fucosidase Deficiency" EXACT [] synonym: "Fucosidase Deficiency Disease" EXACT [] synonym: "Fucosidase Deficiency Diseases" EXACT [] synonym: "Fucosidosis, alpha" EXACT [] synonym: "fucosidosis type 1" NARROW [] synonym: "fucosidosis type I" NARROW [] synonym: "fucosidosis type II" NARROW [] synonym: "infantile fucosidosis" EXACT [] synonym: "juvenile fucosidosis" EXACT [] xref: GARD:6473 xref: ICD10CM:E77.1 xref: MESH:D005645 xref: NCI:C61274 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System [Term] id: DOID:14501 name: Sjogren-Larsson syndrome alt_id: MIM:270200 def: "A syndrome that is characterized by ichthyosis, mental retardation, spastic paraparesis, macular dystrophy, and leukoencephalopathy, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the aldehyde dehydrogenase 3 family member A2 (ALDH3A2) gene, which encodes fatty aldehyde dehydrogenase, on chromosome 17p11. (DO)" [https://ghr.nlm.nih.gov/condition/sjogren-larsson-syndrome "DO", https://www.omim.org/entry/270200 "DO"] synonym: "ALDH3A2-RELATED CONDITION" EXACT [] synonym: "congenital icthyosis, mental retardation, spasticity syndrome" EXACT [] synonym: "FALDH deficiency" EXACT [] synonym: "fatty acid alcohol oxidoreductase deficiency" EXACT [] synonym: "Fatty Alcohol:NAD+ Oxidoreductase Deficiency" EXACT [] synonym: "Fatty Aldehyde Dehydrogenase Deficiency" EXACT [] synonym: "fatty aldehyde dehydrogenase deficiency disease" EXACT [] synonym: "ichthyosis oligophrenia syndrome" EXACT [] synonym: "ichthyosis, spastic neurologic disorder, and oligophrenia" EXACT [] synonym: "Sjogren-Larsson's syndrome" EXACT [] synonym: "Sj�gren-Larsson syndrome" EXACT [] synonym: "SLS" EXACT [] xref: GARD:7654 xref: MESH:D016111 xref: NCI:C85070 xref: ORDO:816 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:14502 name: cholesterol ester storage disease alt_id: MIM:278000 def: "A lysosomal acid lipase deficiency characterized by onset in childhood or later of progressive accumulation of cholesteryl esters and triglycerides primarily in the liver and spleen. (DO)" [https://medlineplus.gov/genetics/condition/lysosomal-acid-lipase-deficiency/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK395569/ "DO", MESH:D015217] synonym: "cholesteryl ester storage disease" EXACT [] synonym: "partial cholesterol ester hydrolase deficiency" EXACT [] synonym: "partial LAL deficiency" EXACT [] synonym: "partial LIPA deficiency" EXACT [] synonym: "partial lysosomal acid lipase deficiency" EXACT [] xref: GARD:12099 xref: MESH:D015217 xref: ORDO:75234 is_a: DOID:0080217 ! lysosomal acid lipase deficiency [Term] id: DOID:14503 name: neuronal ceroid lipofuscinosis alt_id: OMIA:001503 alt_id: OMIA:001552 def: "A group of severe neurodegenerative diseases characterized by intracellular accumulation of autofluorescent wax-like lipid materials (CEROID; LIPOFUSCIN) in neurons. There are several subtypes based on mutations of the various genes, time of disease onset, and severity of the neurological defects such as progressive DEMENTIA; SEIZURES; and visual failure." [MESH:D009472] synonym: "adult neuronal ceroid lipofuscinosis" NARROW [] synonym: "amaurotic idiocy, adult type" NARROW [] synonym: "Batten Mayou Disease" EXACT [] synonym: "Ceroid Storage Disease" EXACT [] synonym: "Ceroid Storage Diseases" EXACT [] synonym: "hereditary ceroid lipofuscinosis" EXACT [] synonym: "Infantile Neuronal Ceroid Lipofuscinosis" NARROW [] synonym: "Jansky Bielschowsky Disease" EXACT [] synonym: "Juvenile Cerebroretinal Degeneration" NARROW [] synonym: "Juvenile Cerebroretinal Degenerations" NARROW [] synonym: "Kuf's disease" EXACT [] synonym: "Kuf's Diseases" EXACT [] synonym: "Kuf Disease" EXACT [] synonym: "Kufs disease" EXACT [] synonym: "Kufs Disease Autosomal Recessive" EXACT [] synonym: "Kufs Type Neuronal Ceroid Lipofuscinosis" EXACT [] synonym: "Late-Infantile Neuronal Ceroid Lipofuscinosis" NARROW [] synonym: "Lipofuscin Storage Disease" EXACT [] synonym: "lipofuscin storage diseases" EXACT [] synonym: "neuronal ceroid lipofuscinoses" EXACT [] synonym: "neuronal ceroid lipofuscinosis, 12" NARROW [] synonym: "neuronal ceroid lipofuscinosis, adult type" NARROW [] xref: EFO:0003111 xref: EFO:0003112 xref: GARD:10739 xref: MESH:D009472 xref: MIM:PS256730 xref: MONDO:0015674 xref: MONDO:0016295 xref: NCI:C61257 xref: ORDO:216 xref: ORDO:79262 is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:14504 name: Niemann-Pick disease def: "A sphingoliidosis characterized by the accumulation of the lipid sphingomyelin in lysosomes in cells. (DO)" [https://en.wikipedia.org/wiki/Niemann-Pick_disease "DO", https://rarediseases.info.nih.gov/diseases/13334/niemann-pick-disease "DO"] synonym: "ACID SPHINGOMYELINASE DEFICIENCY" NARROW [] synonym: "lipoid histiocytosis" EXACT [] synonym: "Niemann Pick diseases" EXACT [] synonym: "sphingomyelinase deficiencies" EXACT [] synonym: "sphingomyelinase deficiency" EXACT [] synonym: "sphingomyelinase deficiency disease" EXACT [] synonym: "sphingomyelin lipidosis" EXACT [] xref: EFO:1001380 xref: GARD:13334 xref: ICD10CM:E75.24 xref: MESH:D009542 xref: NCI:C61269 is_a: DOID:1927 ! sphingolipidosis is_a: DOID:4330 ! non-Langerhans-cell histiocytosis [Term] id: DOID:14507 name: peripheral degeneration of cornea synonym: "peripheral degenerations of cornea" EXACT [] xref: ICD10CM:H18.46 xref: ICD9CM:371.48 is_a: DOID:1237 ! corneal degeneration created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:14512 name: candidal paronychia def: "A candidiasis that results_in fungal infection of the outer-most layer located_in nail, has_material_basis_in Candida species. The infection causes painful, red, swollen area around the nail, often at the cuticle or at the site of a hangnail or other injury. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3884921/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6323378/ "DO"] synonym: "candidiasis of skin" EXACT [] synonym: "candidiasis of skin and nails" EXACT [] xref: ICD10CM:B37.2 xref: ICD9CM:112.3 is_a: DOID:1508 ! candidiasis is_a: DOID:4123 ! nail disease [Term] id: DOID:14515 name: WAGR syndrome def: "A chromosomal deletion syndrome that is a nephroblastoma that results_in a rare genetic syndrome in which affected children are predisposed to develop Wilms tumor, Aniridia (absence of the colored part of the eye, the iris), genitourinary anomalies, and mental retardation. The condition results from a deletion on chromosome 11 resulting in the loss of several genes. As such, it is one of the best studied examples of a condition caused by loss of neighbouring (contiguous) genes. (DO)" [http://en.wikipedia.org/wiki/WAGR_syndrome "DO"] synonym: "11p partial monosomy syndrome" EXACT [] synonym: "Chromosome 11p13 Deletion Syndrome" EXACT [] synonym: "WAGR" EXACT [] synonym: "WAGR Complex" EXACT [] synonym: "WAGR complices" EXACT [] synonym: "WAGR Contiguous Gene Syndrome" EXACT [] synonym: "WAGR Syndromes" EXACT [] synonym: "Wilms Tumor-Aniridia-Genital Anomalies-Retardation Syndrome" EXACT [] synonym: "Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome" EXACT [] synonym: "Wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual disability syndrome" EXACT [] synonym: "Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome" EXACT [] synonym: "Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation Syndrome" EXACT [] synonym: "Wilms tumor-aniridia-genitourinary anomalies-MR syndrome" EXACT [] synonym: "Wilms tumor-aniridia-gonadoblastoma-mental retardation syndrome" EXACT [] xref: GARD:5528 xref: MESH:D017624 xref: MIM:194072 xref: MONDO:0008681 xref: NCI:C3718 is_a: DOID:1059 ! intellectual disability is_a: DOID:12271 ! aniridia is_a: DOID:2154 ! nephroblastoma is_a: DOID:9003766 ! 46, XY Disorders of Sex Development is_a: DOID:9003775 ! Chromosome 11p Deletion Syndrome is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:14522 name: partial arterial retinal occlusion xref: ICD10CM:H34.21 xref: ICD9CM:362.33 xref: NCI:C35192 is_a: DOID:8483 ! retinal artery occlusion created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14523 name: Argyll Robertson pupil def: "An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10863169 "DO"] synonym: "Argyll Robertson phenomenon or pupil, nonsyphilitic" EXACT [] synonym: "Atypical Argyll-Robertson pupil" EXACT [SNOMEDCT_2005_07_31:21011008] xref: ICD10CM:H57.01 xref: ICD9CM:379.45 is_a: DOID:11518 ! abnormal pupillary function [Term] id: DOID:14524 name: senile degeneration of brain synonym: "senile brain degen." EXACT [] xref: ICD9CM:331.2 is_a: DOID:1443 ! cerebral degeneration is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14525 name: Reye syndrome def: "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use. (DO)" [https://en.wikipedia.org/wiki/Reye_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/2680560 "DO"] synonym: "adult Reye's syndrome" EXACT [] synonym: "Adult Reye Syndrome" EXACT [] synonym: "Fatty Liver with Encephalopathy" EXACT [] synonym: "Reye's Like Syndrome" EXACT [] synonym: "Reye's syndrome" EXACT [] synonym: "Reye Johnson Syndrome" EXACT [] synonym: "Reye Like Syndrome" EXACT [] xref: EFO:0007467 xref: GARD:7570 xref: ICD10CM:G93.7 xref: ICD9CM:331.81 xref: MESH:D012202 xref: NCI:C34983 is_a: DOID:225 ! syndrome is_a: DOID:9005627 ! Metabolic Brain Diseases is_a: DOID:9452 ! steatotic liver disease [Term] id: DOID:14529 name: external pathological resorption xref: ICD10CM:K03.3 xref: ICD9CM:521.42 is_a: DOID:13240 ! tooth resorption [Term] id: DOID:1453 name: atrophic glossitis synonym: "atrophy of tongue papillae" EXACT [] synonym: "Hunter's glossitis" EXACT [] synonym: "smooth atrophic tongue" EXACT [] xref: ICD10CM:K14.4 xref: ICD9CM:529.4 is_a: DOID:1456 ! glossitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:14534 name: malignant cardiac peripheral nerve sheath neoplasm synonym: "MPNST of heart" EXACT [] xref: NCI:C5367 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:14535 name: malignant cardiac germ cell tumor synonym: "malignant cardiac germ cell tumour" EXACT [] synonym: "malignant germ cell tumor of the Heart" EXACT [NCI2004_11_17:C5371] synonym: "malignant germ cell tumour of the Heart" EXACT [] xref: NCI:C5371 xref: RDO:9004976 is_a: DOID:117 ! heart cancer created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:14544 name: rete testis adenocarcinoma def: "A rete testis neoplasm that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of rete testis" RELATED [] synonym: "adenocarcinoma of the rete testis" EXACT [NCI2004_11_17:C8955] xref: NCI:C8955 xref: RDO:9002486 is_a: DOID:299 ! adenocarcinoma is_a: DOID:5639 ! rete testis neoplasm created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:14545 name: seminal vesicle adenocarcinoma def: "A male reproductive organ cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] xref: NCI:C39906 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3856 ! male reproductive organ cancer created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:14546 name: sphenoidal sinus cancer synonym: "malignant tumor of Sphenoidal sinus" EXACT [NCI2004_11_17:C3543] synonym: "malignant tumor of sphenoid sinus" EXACT [SNOMEDCT_2005_07_31:363428005] xref: ICD10CM:C31.3 xref: ICD9CM:160.5 xref: NCI:C3543 xref: RDO:9002352 is_a: DOID:0050619 ! paranasal sinus cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:14547 name: sphenoid sinus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the sphenoid sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25748513 "DO"] synonym: "epidermoid carcinoma of the Sphenoidal sinus" EXACT [] xref: NCI:C6066 xref: RDO:9002353 is_a: DOID:14546 ! sphenoidal sinus cancer is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:14548 name: steroid-induced glaucoma - borderline synonym: "borderline glaucoma steroid responder" EXACT [] synonym: "steroid responders borderline glaucoma" EXACT [] xref: ICD9CM:365.03 is_a: DOID:9283 ! borderline glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:1455 name: geographic tongue alt_id: MIM:137400 def: "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface. (DO)" [http://en.wikipedia.org/wiki/Geographic_tongue "DO"] synonym: "benign migratory glossitis" EXACT [] synonym: "Glossitis Areata Exfoliativa" EXACT [] synonym: "Lingua Erythema Migran" EXACT [] synonym: "Lingua Erythema Migrans" EXACT [] synonym: "lingual erythema migrans" EXACT [] synonym: "pityriasis linguae" EXACT [] xref: EFO:0007283 xref: GARD:6493 xref: ICD10CM:K14.1 xref: ICD9CM:529.1 xref: MESH:D005929 xref: NCI:C84588 is_a: DOID:1453 ! atrophic glossitis is_a: DOID:1456 ! glossitis [Term] id: DOID:14550 name: root resorption alt_id: RDO:0006507 def: "Resorption in which cementum or dentin is lost from the root of a tooth owing to cementoclastic or osteoclastic activity in conditions such as trauma of occlusion or neoplasms. (Dorland, 27th ed)" [MESH:D012391] synonym: "Root Resorptions" EXACT [] xref: MESH:D012391 is_a: DOID:13240 ! tooth resorption [Term] id: DOID:14555 name: Foster-Kennedy syndrome xref: EFO:1001330 xref: ICD10CM:H47.14 xref: ICD9CM:377.04 is_a: DOID:146 ! papilledema is_a: DOID:225 ! syndrome is_a: DOID:6929 ! retinal edema created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14557 name: primary pulmonary hypertension def: "A chronic pulmonary heart disease characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein, or pulmonary capillaries, among others, has symptoms shortness of breath, dizziness, fainting, leg swelling. (DO)" [http://en.wikipedia.org/wiki/Pulmonary_hypertension "DO", http://ghr.nlm.nih.gov/condition/pulmonary-arterial-hypertension "DO"] synonym: "familial primary pulmonary hypertension" EXACT [] synonym: "heritable pulmonary arterial hypertension" EXACT [] synonym: "IDIOPATHIC AND/OR FAMILIAL PULMONARY ARTERIAL HYPERTENSION" EXACT [] synonym: "Idiopathic Pulmonary Arterial Hypertension" EXACT [] synonym: "idiopathic pulmonary hypertension" EXACT [] synonym: "idiopathic pulmonary hypertensions" EXACT [] synonym: "primary pulmonary hypertension, dexfenfluramine-associated" RELATED [] synonym: "primary pulmonary hypertension, fenfluramine-associated" RELATED [] synonym: "primary pulmonary hypertensions" EXACT [] xref: ICD10CM:I27.0 xref: ICD9CM:416.0 xref: MESH:D065627 xref: MIM:PS178600 xref: NCI:C121945 xref: NCI:C97119 xref: ORDO:422 is_a: DOID:0080578 ! digenic disease is_a: DOID:12326 ! chronic pulmonary heart disease is_a: DOID:6432 ! pulmonary hypertension [Term] id: DOID:14559 name: anaerobic meningitis xref: ICD9CM:320.81 xref: RDO:9002394 is_a: DOID:9470 ! bacterial meningitis created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:1456 name: glossitis def: "Inflammation of the tongue." [MESH:D005928] synonym: "Glossitides" EXACT [] xref: EFO:1000951 xref: ICD10CM:K14.0 xref: ICD9CM:529.0 xref: MESH:D005928 xref: NCI:C112199 is_a: DOID:10944 ! tongue disease [Term] id: DOID:14566 name: disease of cellular proliferation def: "A disease that is characterized by abnormally rapid cell division. (DO)" [http://en.wikipedia.org/w/index.php?title=Cell_proliferation "DO"] subset: RGD_JBrowse_slim synonym: "ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO" RELATED [] synonym: "cancer of multiple types, susceptibility to" RELATED [] synonym: "cell process disease" EXACT [] synonym: "CODON 72 POLYMORPHISM, (rs1042522)" RELATED [] synonym: "EFO:0000616" EXACT [] synonym: "malignancies" EXACT [] synonym: "malignancy" EXACT [] synonym: "neoplasia" EXACT [] synonym: "neoplasias" EXACT [] synonym: "neoplasm" EXACT [] synonym: "neoplasms" EXACT [] synonym: "neoplastic disease" EXACT [] synonym: "neoplastic growth" EXACT [] synonym: "tumor" EXACT [] synonym: "tumors" EXACT [] xref: EFO:0000616 xref: EFO:0000728 xref: MESH:D009369 xref: NCI:C134526 xref: NCI:C134942 xref: NCI:C23988 xref: NCI:C3262 xref: NCI:C3263 is_a: DOID:4 ! disease [Term] id: DOID:1458 name: postsurgical hypothyroidism synonym: "postoperative hypothyroidism" EXACT [] synonym: "post-surgical hypothyroidism" EXACT [] xref: ICD10CM:E89.0 xref: ICD9CM:244.0 is_a: DOID:1459 ! hypothyroidism created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1459 name: hypothyroidism alt_id: OMIA:000536 def: "A thyroid gland disease which involves an underproduction of thyroid hormone. (DO)" [https://medlineplus.gov/hypothyroidism.html "DO"] synonym: "hypothyroidisms" EXACT [] synonym: "thyroid deficiency" EXACT [] synonym: "thyroid insufficiency" EXACT [] synonym: "Thyroid-Stimulating Hormone Deficiencies" EXACT [] synonym: "Thyroid Stimulating Hormone Deficiency" EXACT [] synonym: "TSH Deficiencies" EXACT [] synonym: "TSH deficiency" EXACT [] xref: EFO:0004705 xref: ICD10CM:E03.9 xref: ICD9CM:244.9 xref: MESH:D007037 xref: NCI:C26800 is_a: DOID:225 ! syndrome is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:146 name: papilledema def: "Swelling of the OPTIC DISK, usually in association with increased intracranial pressure, characterized by hyperemia, blurring of the disk margins, microhemorrhages, blind spot enlargement, and engorgement of retinal veins. Chronic papilledema may cause OPTIC ATROPHY and visual loss. (Miller et al., Clinical Neuro-Ophthalmology, 4th ed, p175)" [MESH:D010211] synonym: "choked disk" EXACT [] synonym: "decreased intracranial pressure associated papilledema" EXACT [] synonym: "edema of the optic disc" EXACT [] synonym: "increased intracranial pressure associated papilledema" EXACT [] synonym: "optic disc swelling" EXACT [] synonym: "optic disk edema" EXACT [] synonym: "optic nerve papillitis" EXACT [] synonym: "optic papilla edema" EXACT [] synonym: "papilledema associated with decreased intraocular pressure" EXACT [] synonym: "papilledema associated with increased intracranial pressure" EXACT [] synonym: "papilloedema" EXACT [] xref: GARD:7318 xref: MESH:D010211 xref: NCI:C3307 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:1460 name: atheroembolism of kidney is_a: DOID:1461 ! cholesterol embolism is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:1461 name: cholesterol embolism def: "A vascular disease that is characterized by blood vessel obstruction resulting from the release of cholesterol from the inside of blood vessels along the bloodstream. (DO)" [http://en.wikipedia.org/wiki/Cholesterol_embolism "DO"] synonym: "Atheroembolism" EXACT [] synonym: "atheroembolisms" EXACT [] synonym: "cholesterol crystal embolism" EXACT [] synonym: "cholesterol embolisms" EXACT [] synonym: "purple toe syndrome" EXACT [] synonym: "trash foot" EXACT [] synonym: "warfarin blue toe syndrome" EXACT [] xref: EFO:0005801 xref: ICD10CM:I75 xref: ICD9CM:445 xref: MESH:D017700 is_a: DOID:178 ! vascular disease is_a: DOID:9006291 ! Fat Embolism [Term] id: DOID:14654 name: prostatitis def: "Infiltration of inflammatory cells into the parenchyma of PROSTATE. The subtypes are classified by their varied laboratory analysis, clinical presentation and response to treatment." [MESH:D011472] synonym: "acute bacterial prostatitides" EXACT [] synonym: "Acute Bacterial Prostatitis" EXACT [] synonym: "Asymptomatic Inflammatory Prostatitides" EXACT [] synonym: "Asymptomatic Inflammatory Prostatitis" EXACT [] synonym: "Chronic Bacterial Prostatitides" EXACT [] synonym: "Chronic Bacterial Prostatitis" EXACT [] synonym: "Chronic Prostatitis with Chronic Pelvic Pain Syndrome" EXACT [] synonym: "prostatitides" EXACT [] xref: EFO:0003830 xref: ICD10CM:N41 xref: ICD10CM:N41.9 xref: ICD9CM:601.9 xref: MESH:D011472 xref: NCI:C26866 is_a: DOID:47 ! prostate disease [Term] id: DOID:14669 name: acrodysostosis alt_id: MIM:170700 def: "A dysostosis that results_in shortening of interphalangeal joints located_in hand or located_in foot along with mental deficiency. (DO)" [http://children.webmd.com/acrodysostosis "DO", http://en.wikipedia.org/wiki/Acrodysostosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001248.htm "DO"] synonym: "acrodysplasia" EXACT [] synonym: "Arkless-Graham syndrome" EXACT [] synonym: "Maroteaux-Malamut syndrome" EXACT [] synonym: "nasal hypoplasia-peripheral dysostosis-mental retardation syndrome" EXACT [] synonym: "peripheral dysostosis" EXACT [] synonym: "peripheral dysostosis-nasal hypoplasia-mental retardation (PNM) syndrome" EXACT [] xref: GARD:2015 xref: GARD:5724 xref: MESH:C538179 xref: MIM:PS101800 xref: ORDO:950 is_a: DOID:1059 ! intellectual disability is_a: DOID:1934 ! dysostosis is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:1467 name: serous labyrinthitis def: "A labyrinthitits in which bacterial toxins invade the inner ear. It is the most common complication of acute or chronic middle ear infections. (DO)" [http://books.google.com/books?id=QRgynJASsi8C&pg=PA221&lpg#v=onepage&q=&f=false "DO"] synonym: "acute serous labyrinthitis" EXACT [] xref: ICD9CM:386.31 xref: MONDO:0002006 is_a: DOID:1468 ! labyrinthitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:14670 name: hypertelorism, microtia, facial clefting syndrome alt_id: MIM:239800 def: "A syndrome that is characterized by the combination of hypertelorism, cleft lip and palate and microtia. (DO)" [http://rarediseases.info.nih.gov/gard/897/bixler-christian-gorlin-syndrome/resources/1 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2213 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11152141 "DO"] synonym: "Bixler Christian Gorlin syndrome" EXACT [] synonym: "Bixler syndrome" EXACT [] synonym: "HMC syndrome" EXACT [] synonym: "hypertelorism-microtia-clefting syndrome" EXACT [] xref: MESH:C537632 xref: ORDO:2213 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10907 ! microcephaly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9001502 ! Congenital Microtia is_a: DOID:9296 ! cleft lip [Term] id: DOID:14671 name: multiple intestinal atresia def: "An intestinal disease characterized by the presence of numerous atresic segments in the small and large intestines that has_material_basis_in homozygous or compound heterozygous mutation in the TTC7A gene on chromosome 2p21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23423984 "DO"] synonym: "familial intestinal polyatresia syndrome" EXACT [] synonym: "FIPA" EXACT [] synonym: "gastrointestinal defects and immunodeficiency syndrome 1" EXACT [] synonym: "GIDID1" EXACT [] synonym: "MINAT" EXACT [] synonym: "multiple gastrointestinal atresias" EXACT [] synonym: "multiple intestinal atresia and/or inflammatory bowel disease with or without immunodeficiency" EXACT [] xref: GARD:3013 xref: MEDDRA:10028210 xref: MESH:C562441 xref: MIM:243150 xref: MONDO:0800030 xref: ORDO:2300 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10486 ! intestinal atresia is_a: DOID:9009203 ! Gastrointestinal defects and immunodeficiency syndrome [Term] id: DOID:14679 name: VACTERL association alt_id: MIM:192350 def: "A syndrome that is characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities. (DO)" [http://en.wikipedia.org/wiki/VACTERL_association "DO", http://ghr.nlm.nih.gov/condition/vacterl-association "DO", http://www.cincinnatichildrens.org/health/v/vacterl/ "DO"] synonym: "VACTEL association" EXACT [] synonym: "VACTERL/VATER association" EXACT [] synonym: "VACTERL Syndrome" EXACT [] synonym: "VATER Association" EXACT [] synonym: "VATER syndrome" RELATED [] synonym: "Vertebral Anal Tracheoesophageal Esophageal Radial anomalies" EXACT [] synonym: "vertebral defects, anal atresia, tracheoesophageal fistula with esophageal atresia, and radial dysplasia" EXACT [] xref: GARD:5443 xref: MESH:C536495 xref: MESH:C536534 xref: NCI:C99105 is_a: DOID:10488 ! imperforate anus is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008498 ! Tracheoesophageal Fistula [Term] id: DOID:1468 name: labyrinthitis def: "An otitis interna which involves inflammation of the labyrinths. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=LABYRINTHITIS "DO"] synonym: "labyrinthitides" EXACT [] xref: EFO:0009604 xref: ICD10CM:H83.0 xref: ICD9CM:386.3 xref: MESH:D007762 is_a: DOID:3930 ! otitis interna is_a: DOID:9007481 ! Otitis [Term] id: DOID:14681 name: Silver-Russell syndrome def: "A physical disorder that is characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. (DO)" [https://ghr.nlm.nih.gov/condition/russell-silver-syndrome "DO", https://rarediseases.org/rare-diseases/russell-silver-syndrome/ "DO"] synonym: "RSS" EXACT [] synonym: "Silver Russell dwarfism" EXACT [] synonym: "SRS" EXACT [] xref: GARD:4870 xref: MESH:D056730 xref: MIM:PS180860 xref: NCI:C85068 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:0080015 ! physical disorder is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:14683 name: Binder syndrome alt_id: MIM:155050 synonym: "maxillonasal dysplasia, Binder type" EXACT [] xref: GARD:6992 xref: MESH:C536036 is_a: DOID:2163 ! nasal cavity disease is_a: DOID:9004563 ! Maxillofacial Abnormalities [Term] id: DOID:14686 name: Axenfeld-Rieger syndrome def: "An eye disease characterized by abnormalities of the front part of the eye, the anterior segment. (DO)" [http://en.wikipedia.org/wiki/Axenfeld_syndrome "DO", http://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome "DO"] synonym: "Axenfeld anomaly" EXACT [] synonym: "Axenfeld-Rieger anomaly" EXACT [] synonym: "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" EXACT [] synonym: "Axenfeld syndrome" EXACT [] synonym: "Hagedoom syndrome" RELATED [] synonym: "iridogoniodysgenesis with somatic anomalies" EXACT [] synonym: "RGS - Rieger syndrome" EXACT [SNOMEDCT_2005_07_31:204154009] synonym: "Rieger's anomaly" EXACT [] synonym: "Rieger anomaly" EXACT [] synonym: "Rieger syndrome" EXACT [] xref: GARD:5701 xref: ICD10CM:Q13.81 xref: MESH:C535679 xref: MIM:PS180500 xref: NCI:C131001 xref: ORDO:782 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:14687 name: diastrophic dysplasia alt_id: MIM:222600 alt_id: RDO:0001640 def: "An osteochondrodysplasia that has_material_basis_in abnormal cartilage development due to mutations in the SLC26A2 gene which results_in short limb dwarfism. (DO)" [http://en.wikipedia.org/wiki/Diastrophic_dysplasia "DO", http://ghr.nlm.nih.gov/condition/diastrophic-dysplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK22219/ "DO"] synonym: "DD DIASTROPHIC DYSPLASIA, BONE-PLATYSPONDYLIC VARIANT" NARROW [] synonym: "Diastrophic dwarfism" EXACT [] synonym: "DTD" EXACT [] synonym: "SULFATE TRANSPORTER-RELATED OSTEOCHONDRODYSPLASIA" EXACT [] xref: GARD:6275 xref: ICD10CM:Q77.5 xref: MESH:C536170 xref: NCI:C156311 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:14692 name: Smith-Lemli-Opitz syndrome alt_id: MIM:270400 def: "An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase, the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY." [MESH:D019082] synonym: "7-Dehydrocholesterol Reductase Deficiencies" EXACT [] synonym: "7-Dehydrocholesterol Reductase Deficiency" EXACT [] synonym: "Hyperotosis Corticalis Generalisata Familiaris" EXACT [] synonym: "Lethal Acrodysgenital Syndrome" EXACT [] synonym: "Lethal Acrodysgenital Syndromes" EXACT [] synonym: "Polydactyly, Sex Reversal, Renal Hypoplasia, And Unilobar Lung" EXACT [] synonym: "RSH SLO Syndrome" EXACT [] synonym: "RSH-SLO Syndromes" EXACT [] synonym: "RSH Syndrome" EXACT [] synonym: "RSH Syndromes" EXACT [] synonym: "Rutledge Friedman Harrod Syndrome" EXACT [] synonym: "Rutledge Lethal Multiple Congenital Anomaly Syndrome" EXACT [] synonym: "SLOS" EXACT [] synonym: "SLO Syndrome" EXACT [] synonym: "SLO Syndromes" EXACT [] synonym: "Smith Lemli Opitz syndrome, type 1" EXACT [] synonym: "Smith Lemli Opitz Syndrome, Type 2" EXACT [] synonym: "Smith Lemli Opitz Syndrome, Type I" EXACT [] synonym: "Smith Lemli Opitz Syndrome, Type II" EXACT [] synonym: "Smith-Opitz-Inborn syndrome" EXACT [CSP2005:5002-0023] xref: GARD:5683 xref: ICD10CM:E78.72 xref: MESH:D019082 xref: NCI:C85071 xref: RDO:0007255 is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:225 ! syndrome is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9003370 ! Dyslipidemias is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:14693 name: Clouston syndrome def: "An ectodermal dysplasia that is characterized by abnormalities of the hair, nails, and skin, with the teeth and sweat glands being unaffected and that has_material_basis_in heterozygous mutation in the GJB6 gene, which encodes connexin-30, on chromosome 13q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8845850/ "DO"] synonym: "autosomal dominant hidrotic ectodermal dysplasia" EXACT [] synonym: "Clouston's hidrotic ectodermal dysplasia" EXACT [] synonym: "Clouston's syndrome" EXACT [] synonym: "Clouston Hidrotic Ectodermal Dysplasia" EXACT [] synonym: "Cloustons syndrome" EXACT [] synonym: "ECTD2" EXACT [] synonym: "ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE" EXACT [] synonym: "HED2" EXACT [] synonym: "hidrotic ectodermal dysplasia" EXACT [] synonym: "hidrotic ectodermal dysplasia 2" EXACT [] synonym: "hidrotic ectodermal dysplasia syndrome" EXACT [] xref: GARD:2056 xref: MIM:129500 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:14694 name: Johanson-Blizzard syndrome alt_id: MIM:243800 def: "A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner. (DO)" [http://en.wikipedia.org/wiki/Johanson-Blizzard_syndrome "DO"] synonym: "ectodermal dysplasia-exocrine pancreatic insufficiency" EXACT [] synonym: "JBS" EXACT [] synonym: "malabsorption-ectodermal dysplasia-nasal alar hypoplasia" EXACT [] synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness" EXACT [] synonym: "nasal alar hypoplasia, hypothyroidism, pancreatic achylia, congenital deafness" EXACT [] xref: GARD:80 xref: MESH:C535880 xref: ORDO:2315 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10488 ! imperforate anus is_a: DOID:1059 ! intellectual disability is_a: DOID:13316 ! exocrine pancreatic insufficiency is_a: DOID:1459 ! hypothyroidism is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:14695 name: galactokinase deficiency def: "A galactosemia that involves an accumulation of galactose and galactitol secondary to the decreased conversion of galactose to galactose-1-phosphate by galactokinase. (DO)" [http://en.wikipedia.org/wiki/Galactokinase_deficiency "DO"] synonym: "deficiency of galactokinase" EXACT [] synonym: "GALAC2" EXACT [] synonym: "galactokinase deficiencies" EXACT [] synonym: "galactokinase deficiency disease" EXACT [] synonym: "galactokinase deficiency diseases" EXACT [] synonym: "galactokinase deficiency with cataracts" EXACT [] synonym: "galactosemia 2" EXACT [] synonym: "galactosemia II" EXACT [] synonym: "GALK1-RELATED CONDITION" EXACT [] synonym: "GALK deficiencies" EXACT [] synonym: "GALK deficiency" EXACT [] xref: GARD:2422 xref: ICD10CM:E74.29 xref: MIM:230200 xref: NCI:C114767 xref: ORDO:79237 is_a: DOID:9870 ! galactosemia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:14699 name: thrombocytopenia-absent radius syndrome alt_id: MIM:274000 def: "A chromosomal deletion syndrome that is characterized by absence of the radius bone and platelet deficiency and bilateral absence of the radii with the presence of both thumbs and generally transient thrombocytopenia (less than 50 platelets/nL) and that has_material_basis_in compound heterozygosity for a rare null mutation involving the RBM8A gene on chromosome 1q12 on 1 allele and 1 of 2 low-frequency noncoding single-nucleotide polymorphisms in RBM8A on the other. (DO)" [https://ghr.nlm.nih.gov/condition/thrombocytopenia-absent-radius-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK23758/ "DO"] synonym: "absent radii and thrombocytopenia" EXACT [] synonym: "chromosome 1q21.1 deletion syndrome, 200-Kb" EXACT [] synonym: "radial aplasia-amegakaryocytic thrombocytopenia" EXACT [] synonym: "radial aplasia-thrombocytopenia syndrome" EXACT [] synonym: "TAR" EXACT [] synonym: "TAR syndrome" EXACT [] synonym: "thrombocytopenia absent radii" EXACT [] synonym: "thrombocytopenia with absent radii (TAR) syndrome" EXACT [] xref: MESH:C536940 xref: NCI:C99038 xref: ORDO:3320 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1588 ! thrombocytopenia is_a: DOID:9004402 ! Congenital Upper Extremity Deformities [Term] id: DOID:1470 name: major depressive disorder alt_id: MIM:608516 def: "A depressive disorder that is characterized by at least two weeks of loss of interest or pleasure in normally enjoyable activities or depressed mood along with additional cognitive or somatic impairments such as appetite or weight changes, sleep difficulties, psychomotor agitation or retardation, fatigue or loss of energy, diminished ability to think or concentrate, feelings of worthlessness or excessive guilt, and suicidality. (DO)" [http://en.wikipedia.org/wiki/Major_depressive_disorder "DO", https://pubmed.ncbi.nlm.nih.gov/30333763 "DO"] synonym: "Involutional Depression" EXACT [] synonym: "Involutional Melancholia" EXACT [] synonym: "Involutional Paraphrenia" EXACT [] synonym: "involutional paraphrenias" EXACT [] synonym: "involutional psychoses" EXACT [] synonym: "involutional psychosis" EXACT [] synonym: "major depression" EXACT [] synonym: "MAJOR DEPRESSIVE DISORDER, INCREASED RECURRENCE OF DEPRESSIVE EPISODES IN, SUSCEPTIBILITY TO" RELATED [] synonym: "major depressive disorders" EXACT [] synonym: "major depressive episode" NARROW [] synonym: "MDD" EXACT [] synonym: "recurrent major depression" EXACT [] synonym: "SAD" NARROW [] synonym: "single major depressive episode" NARROW [] synonym: "TRYPTOPHAN 5-MONOOXYGENASE DEFICIENCY" NARROW [] synonym: "UNIPOLAR DEPRESSION SEASONAL AFFECTIVE DISORDER" NARROW [] xref: EFO:0003761 xref: EFO:0006860 xref: EFO:0007634 xref: ICD10CM:F32 xref: ICD10CM:F33.9 xref: ICD9CM:296.2 xref: ICD9CM:296.3 xref: MESH:D003865 xref: MONDO:0002009 xref: NCI:C34796 is_a: DOID:1596 ! depressive disorder [Term] id: DOID:14701 name: propionic acidemia def: "An organic acidemia that involes a nonfunctional propionyl CoA carboxylase affecting conversion of amino acids and fats into sugar for energy. (DO)" [http://en.wikipedia.org/wiki/Propionic_acidemia "DO"] synonym: "hyperglycinemia with ketoacidosis and leukopenia" EXACT [] synonym: "Ketotic Glycinemia" EXACT [] synonym: "ketotic glycinemias" EXACT [] synonym: "Ketotic Hyperglycinemia" EXACT [] synonym: "ketotic hyperglycinemias" EXACT [] synonym: "ketotic II glycinemia" EXACT [] synonym: "PCC deficiencies" EXACT [] synonym: "PCC deficiency" EXACT [] synonym: "propionic acidemias" EXACT [] synonym: "propionic aciduria" EXACT [] synonym: "propionic acidurias" EXACT [] synonym: "propionyl-CoA carboxylase deficiencies" EXACT [] synonym: "propionyl CoA carboxylase deficiency" EXACT [] xref: GARD:467 xref: ICD10CM:E71.121 xref: MESH:D056693 xref: MIM:606054 xref: MONDO:0011628 xref: NCI:C85030 is_a: DOID:0060159 ! organic acidemia is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:14702 name: branchiootorenal syndrome def: "A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/263442 "DO"] synonym: "BOR syndrome" EXACT [] synonym: "Branchiootorenal Dysplasia" EXACT [] synonym: "branchio-otorenal dysplasia" EXACT [] synonym: "BRANCHIOOTORENAL SPECTRUM DISORDERS" EXACT [] synonym: "Branchio-Oto-Renal Syndrome" EXACT [] synonym: "Branchio-Otorenal Syndrome" EXACT [] synonym: "branchiootorenal syndrome with cataract" NARROW [] synonym: "Lee Root Fenske syndrome" EXACT [] synonym: "Melnick Fraser syndrome" EXACT [] xref: EFO:1001251 xref: GARD:10147 xref: MESH:D019280 xref: MIM:PS166780 xref: MONDO:0007029 xref: NCI:C98983 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9002644 ! Premature Aging is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:14705 name: Pfeiffer syndrome alt_id: MIM:101600 def: "An acrocephalosyndactylia that has_material_basis_in mutations in the FGFR1 and FGFR2 gene which results_in premature fusion located_in skull. (DO)" [http://en.wikipedia.org/wiki/Pfeiffer_syndrome "DO", http://ghr.nlm.nih.gov/condition/pfeiffer-syndrome "DO", http://www.healthline.com/galecontent/pfeiffer-syndrome "DO", https://www.faces-cranio.org/pfeiffer "DO"] synonym: "acrocephalosyndactylia type V" EXACT [] synonym: "acrocephalosyndactyly, type 5" EXACT [] synonym: "acrocephalosyndactyly, type V" EXACT [] synonym: "ACS5" EXACT [] synonym: "ACS V" EXACT [] synonym: "NOACK SYNDROME CRANIOFACIAL-SKELETAL-DERMATOLOGIC DYSPLASIA" NARROW [] synonym: "PFEIFFER SYNDROME TYPE 1" NARROW [] synonym: "Pfeiffer type acrocephalosyndactyly" EXACT [] synonym: "type V acrocephalosyndactylies" EXACT [] xref: GARD:7380 xref: MESH:C538582 xref: NCI:C99100 xref: ORDO:710 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12960 ! acrocephalosyndactylia [Term] id: DOID:14711 name: FG syndrome def: "A syndrome characterized by retardation, hyperactivity, hypotonia, broad thumbs, big first toes and a characteristic facial appearance including macrocephaly and has an X-linked recessive inheritance pattern. (DO)" [http://en.wikipedia.org/wiki/FG_syndrome "DO", http://ghr.nlm.nih.gov/condition/fg-syndrome "DO", http://rarediseases.info.nih.gov/gard/2317/fg-syndrome/resources/1 "DO"] synonym: "FGS" EXACT [] synonym: "Keller syndrome" NARROW [] synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" NARROW [] synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of the corpus callosum" NARROW [] synonym: "OKS" NARROW [] synonym: "Opitz-Kaveggia syndrome" NARROW [] xref: EFO:0009297 xref: GARD:2317 xref: MESH:C537923 xref: MIM:PS305450 xref: MONDO:0002010 xref: ORDO:323 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:10488 ! imperforate anus is_a: DOID:225 ! syndrome is_a: DOID:9001581 ! Constipation is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:14717 name: centronuclear myopathy def: "A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. (DO)" [http://en.wikipedia.org/wiki/Centronuclear_myopathy "DO", http://ghr.nlm.nih.gov/condition/centronuclear-myopathy "DO"] synonym: "centronuclear myopathies" EXACT [] synonym: "myotubular myopathy" EXACT [] xref: GARD:101 xref: ICD10CM:G71.22 xref: MIM:PS160150 xref: ORDO:595 xref: ORDO:596 xref: ORDO:69186 xref: ORDO:69189 is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:14720 name: Ehlers-Danlos syndrome classic type 1 alt_id: MIM:130000 def: "An Ehlers-Danlos syndrome that is characterized by loose-jointedness and fragile, bruisable skin that heals with peculiar 'cigarette-paper' scars and that has_material_basis_in heterozygous mutation in the collagen alpha-1(V) gene (COL5A1) on chromosome 9q34. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "COL5A1-RELATED CONDITION" BROAD [] synonym: "EDS1" EXACT [] synonym: "EDSCL1" EXACT [] synonym: "EDS I" EXACT [] synonym: "Ehlers-Danlos syndrome, classic severe form" EXACT [] synonym: "Ehlers-Danlos syndrome, classic type" EXACT [] synonym: "Ehlers-Danlos syndrome, Gravis type" EXACT [] synonym: "Ehlers-Danlos syndrome, severe classic type" EXACT [] synonym: "Ehlers-Danlos syndrome type 1" EXACT [] synonym: "Ehlers-Danlos syndrome type I" EXACT [] xref: MESH:C536194 xref: NCI:C125696 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:14723 name: beta-ketothiolase deficiency alt_id: MIM:203750 def: "An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomiting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. (DO)" [https://ghr.nlm.nih.gov/condition/beta-ketothiolase-deficiency#statistics "DO"] synonym: "2-alpha-methyl-3-hydroxybutyricacidemia" EXACT [] synonym: "2-methyl-3-hydroxybutyric acidemia" EXACT [] synonym: "2-methyl-3-hydroxybutyricacidemia" EXACT [] synonym: "3-alpha-ketothiolase deficiency" EXACT [] synonym: "3-Alpha-Ktd Deficiency" EXACT [] synonym: "3-Alpha-Oxothiolase Deficiency" EXACT [] synonym: "3-ketothiolase deficiency" EXACT [] synonym: "3-KTD DEFICIENCY" EXACT [] synonym: "3-Methylhydroxybutyric Acidemia" EXACT [] synonym: "3-oxothiolase deficiency" EXACT [] synonym: "Alpha-Methylacetoacetic Aciduria" EXACT [] synonym: "Alpha-methylacetoaceticaciduria" EXACT [] synonym: "B-Ketothiolase Deficiency" EXACT [] synonym: "DEFICIENCY OF ACETYL-COA ACETYLTRANSFERASE" EXACT [] synonym: "MAT DEFICIENCY" EXACT [] synonym: "mitochondrial 2-methylacetoacetyl-Coa thiolase deficiency - potassium stimulated" EXACT [] synonym: "mitochondrial acetoacetyl-CoA thiolase deficiency" EXACT [] synonym: "peroxisomal thiolase deficiency" EXACT [] synonym: "T2 deficiency" EXACT [] xref: GARD:872 xref: MESH:C535434 xref: NCI:C98841 xref: ORDO:134 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:14725 name: autosomal dominant microcephaly alt_id: MIM:156580 def: "A microcephaly that has_material_basis_in heterozygous mutation in an autosomal gene. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3236353 "DO"] synonym: "microcephaly with autosomal dominant inheritance" EXACT [] xref: MESH:C537323 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10907 ! microcephaly [Term] id: DOID:14731 name: Weaver syndrome def: "A syndrome that is characterized by prenatal and postnatal overgrowth, accelerated osseous maturation, characteristic craniofacial appearance, and developmental delay and has_material_basis_in heterozygous mutation in the EZH2 gene on chromosome 7q36. (DO)" [https://ghr.nlm.nih.gov/condition/weaver-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/30793471 "DO"] synonym: "camptodactyly-overgrowth-unusual facies syndrome" EXACT [] synonym: "Weaver-like syndrome" EXACT [] synonym: "Weaver-Smith syndrome" EXACT [] synonym: "Weaver-Williams syndrome" EXACT [] synonym: "WSS" EXACT [] synonym: "WVS" EXACT [] xref: GARD:5545 xref: GARD:7878 xref: MESH:C536687 xref: MESH:C562443 xref: MIM:277590 xref: MONDO:0010193 xref: NCI:C125599 xref: ORDO:3447 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:14735 name: hereditary angioedema def: "An angioedema that is characterized by recurrent episodes of severe swelling of the skin and mucous membranes. (DO)" [https://medlineplus.gov/genetics/condition/hereditary-angioedema/ "DO"] synonym: "HAE" EXACT [] synonym: "HANE" EXACT [] synonym: "hereditary angioedemas" EXACT [] synonym: "HEREDITARY ANGIOEDEMA WITH NORMAL C1INH" NARROW [] synonym: "hereditary angioneurotic edema" EXACT [] synonym: "hereditary angioneurotic edemas" EXACT [] xref: EFO:0004133 xref: GARD:5979 xref: MESH:D054179 xref: MIM:PS106100 xref: MONDO:0019623 xref: NCI:C84758 xref: ORDO:91378 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1558 ! angioedema [Term] id: DOID:14737 name: craniofrontonasal syndrome alt_id: MIM:304110 def: "A syndrome that has_material_basis_in mutation in the EFNB1 gene on chromosome Xq13 and is characterized in hemizygous males by hypertelorism and with greater severity in females by frontonasal dysplasia, craniofacial asymmetry, craniosynostosis, bifid nasal tip, grooved nails, wiry hair, and abnormalities of the thoracic skeleton. (DO)" [https://www.omim.org/entry/304110 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1520 "DO"] synonym: "CFND" EXACT [] synonym: "CFNS" EXACT [] synonym: "craniofrontonasal dysostosis" EXACT [] synonym: "craniofrontonasal dysplasia" EXACT [] xref: GARD:1578 xref: MESH:C536456 xref: ORDO:1520 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:1474 name: aggressive periodontitis alt_id: MIM:170650 def: "A periodontitis that is characterized by rapid attachment loss and bone destruction in the presence of little local factors such as dental plaque and dental calculus resulting in inflammation and a loss of periodontium. (DO)" [http://en.wikipedia.org/wiki/Aggressive_periodontitis "DO"] synonym: "aggressive periodontitis, 1" EXACT [] synonym: "circumpubertal periodontitis" EXACT [] synonym: "early-onset periodontitis" EXACT [] synonym: "JP" EXACT [] synonym: "JPD" EXACT [] synonym: "Juvenile Periodontitis" EXACT [] synonym: "periodontoses, formerly" RELATED [] synonym: "periodontosis, formerly" RELATED [] synonym: "PPP" EXACT [] synonym: "prepubertal periodontitis" EXACT [] xref: EFO:0006342 xref: ICD10CM:K05.2 xref: MESH:D010520 is_a: DOID:824 ! periodontitis [Term] id: DOID:14743 name: trichorhinophalangeal syndrome type I alt_id: MIM:190350 def: "A syndrome that is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly). (DO)" [http://rarediseases.info.nih.gov/gard/7802/trichorhinophalangeal-syndrome-type-3/resources/1 "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=77258 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/732/viewAbstract "DO"] synonym: "Giedion syndrome" EXACT [] synonym: "Sugio-Kajii syndrome" EXACT [] synonym: "Trichorhinophalangeal (TRP) syndrome 1" EXACT [] synonym: "Trichorhinophalangeal dysplasia 1" EXACT [] synonym: "trichorhinophalangeal dysplasia type I" EXACT [] synonym: "trichorhinophalangeal syndrome type 1" EXACT [] synonym: "TRPS1" EXACT [] synonym: "TRPS I" EXACT [] xref: MESH:C536820 xref: NCI:C75109 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:421 ! hair disease is_a: DOID:9005517 ! Trichorhinophalangeal Syndrome [Term] id: DOID:14744 name: Partington syndrome alt_id: MIM:309510 def: "A syndrome characterized by intellectual disability, focal dystonia of the hands and dysarthria. (DO)" [http://ghr.nlm.nih.gov/condition/partington-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/23622180 "DO"] synonym: "mental retardation-dystonic movements-ataxia-seizures syndrome" EXACT [] synonym: "MRX36" EXACT [] synonym: "MRXS1" EXACT [] synonym: "Partington X-linked mental retardation syndrome" EXACT [] synonym: "PRTS" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 1" EXACT [] synonym: "syndromic X-linked mental retardation 1" EXACT [] synonym: "X-linked mental retardation 36" EXACT [] synonym: "X-linked mental retardation, with dystonic movements, ataxia, and seizures" EXACT [] synonym: "X-linked Russell-Silver syndrome" EXACT [] synonym: "X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME" EXACT [] xref: GARD:4235 xref: MESH:C536300 xref: ORDO:94083 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9004866 ! Ataxia [Term] id: DOID:14748 name: Sotos syndrome def: "A syndrome that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life. (DO)" [http://en.wikipedia.org/wiki/Cerebral_gigantism "DO", https://research.nhgri.nih.gov/atlas/condition/sotos-syndrome "DO"] synonym: "cerebral gigantism" EXACT [] synonym: "cerebral gigantisms" EXACT [] synonym: "chromosome 5q35 deletion syndrome" EXACT [] synonym: "Soto's syndrome" EXACT [] synonym: "Sotos' syndrome" EXACT [] synonym: "Sotos sequence" EXACT [] synonym: "Soto syndrome" EXACT [] xref: EFO:0004147 xref: GARD:10091 xref: MESH:D058495 xref: MIM:PS117550 xref: MONDO:0019349 xref: NCI:C75019 xref: ORDO:821 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:14749 name: methylmalonic acidemia def: "An organic acidemia that involves an accumulation of methylmalonic acid in the blood. (DO)" [http://ghr.nlm.nih.gov/condition/methylmalonic-acidemia "DO"] synonym: "isolated methylmalonic acidemia" EXACT [] synonym: "methylmalonic aciduria" EXACT [] synonym: "methylmalonicaciduria due to methylmalonic CoA mutase deficiency" EXACT [] xref: GARD:7033 xref: MESH:C537358 xref: NCI:C98986 is_a: DOID:0060159 ! organic acidemia is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:1475 name: lymphangioma def: "A benign vascular tumor that is composed of dilated lymphatic channels. (DO)" [https://en.wikipedia.org/wiki/Lymphangioma "DO"] synonym: "benign lymphangioma" EXACT [] synonym: "Cavernous Lymphangioma" EXACT [] synonym: "cavernous lymphangiomas" EXACT [] synonym: "congenital lymphangioma" EXACT [] synonym: "Lymphangioendothelioma" EXACT [] synonym: "Lymphangioendotheliomas" EXACT [] synonym: "Lymphangiomas" EXACT [] synonym: "Lymphatic Endothelioma" EXACT [] synonym: "lymphatic endotheliomas" EXACT [] xref: EFO:1001026 xref: GARD:9789 xref: ICD10CM:D18.1 xref: ICD9CM:228.1 xref: ICDO:9170/0 xref: MESH:D008202 xref: NCI:C8965 is_a: DOID:60006 ! benign vascular tumor is_a: DOID:9003008 ! Lymphatic Vessel Tumors [Term] id: DOID:14753 name: isovaleric acidemia alt_id: MIM:243500 def: "An organic acidemia that disrupts or prevents normal metabolism of the branched-chain amino acid leucine. (DO)" [http://en.wikipedia.org/wiki/Isovaleric_acidemia "DO"] synonym: "isovaleric acid CoA dehydrogenase deficiency" EXACT [] synonym: "isovaleric acidemia, type I" EXACT [] synonym: "Isovaleric Acidemia, Type II" EXACT [] synonym: "Isovaleric Acidemia, Type III" EXACT [] synonym: "isovaleric aciduria" EXACT [] synonym: "Isovaleryl CoA carboxylase deficiency" EXACT [] synonym: "isovaleryl-CoA dehydrogenase deficiency" EXACT [] synonym: "IVA" EXACT [] synonym: "IVD deficiency" EXACT [] xref: GARD:465 xref: ICD10CM:E71.110 xref: MESH:C538167 xref: NCI:C98964 is_a: DOID:0060159 ! organic acidemia is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:14755 name: argininosuccinic aciduria alt_id: MIM:207900 def: "An amino acid metabolic disorder that involves the accumulation of argininosuccinic acid (ASA) in the blood and urine. (DO)" [http://en.wikipedia.org/wiki/Argininosuccinic_aciduria "DO"] synonym: "arginino succinase deficiencies" EXACT [] synonym: "Arginino Succinase Deficiency" EXACT [] synonym: "Argininosuccinase Deficiency" EXACT [] synonym: "Argininosuccinate Acidemia" EXACT [] synonym: "Argininosuccinate Acidemias" EXACT [] synonym: "Argininosuccinate Lyase Deficiencies" EXACT [] synonym: "Argininosuccinate Lyase Deficiency" EXACT [] synonym: "Argininosuccinic Acidemia" EXACT [] synonym: "Argininosuccinic Acid Lyase Deficiency" EXACT [] synonym: "Argininosuccinicaciduria" EXACT [] synonym: "Argininosuccinic Acidurias" EXACT [] synonym: "Argininosuccinicacidurias" EXACT [] synonym: "Argininosuccinyl-Coa Lyase Deficiency" EXACT [] synonym: "Arginosuccinase Deficiency" EXACT [] synonym: "ASA Deficiencies" EXACT [] synonym: "ASA Deficiency" EXACT [] synonym: "Asauria" EXACT [] synonym: "ASL Deficiencies" EXACT [] synonym: "ASL Deficiency" EXACT [] synonym: "deficiency of argininosuccinate lyase" EXACT [] synonym: "Inborn Error of Urea Synthesis, Arginino Succinic Type" EXACT [] synonym: "urea cycle disorder, arginino succinase type" EXACT [] xref: GARD:5843 xref: MESH:D056807 xref: NCI:C84569 is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:14756 name: vascular type Ehlers-Danlos syndrome def: "An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL3A1 gene on chromosome 2q32 and that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21637106/ "DO"] synonym: "autosomal dominant type IV Ehlers-Danlos syndrome" EXACT [] synonym: "COL3A1-RELATED CONDITION" BROAD [] synonym: "EDSVASC" EXACT [] synonym: "Ehlers Danlos Syndrome, arterial type" EXACT [] synonym: "Ehlers Danlos syndrome, Ecchymotic type" EXACT [] synonym: "Ehlers Danlos syndrome, Sack Barabas type" EXACT [] xref: GARD:2082 xref: MIM:130050 xref: NCI:C125699 xref: ORDO:286 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001287 ! Ehlers-Danlos Syndrome Type 4 created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:14757 name: Ehlers-Danlos syndrome hypermobility type alt_id: MIM:130020 def: "An Ehlers-Danlos syndrome that is characterized by joint hyperextensibility without skeletal deformity. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "Benign hypermobility syndrome" EXACT [] synonym: "EDS3" EXACT [] synonym: "EDS III" EXACT [] synonym: "Ehlers-Danlos syndrome type 3" EXACT [] synonym: "Ehlers-Danlos syndrome type III" EXACT [] xref: GARD:2081 xref: ICD10CM:Q79.62 xref: MESH:C536196 xref: NCI:C125698 is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:14759 name: autosomal recessive type IV Ehlers-Danlos syndrome def: "An Ehlers-Danlos syndrome that is characterized by the association of unexpected organ fragility (arterial/bowel/gravid uterine rupture) with inconstant physical features as thin, translucent skin, easy bruising and acrogeric traits. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "Ehlers-Danlos syndrome, recessive type 4" EXACT [] is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001287 ! Ehlers-Danlos Syndrome Type 4 created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:14761 name: Greig cephalopolysyndactyly syndrome alt_id: MIM:175700 def: "An acrocephalosyndactylia that has_material_basis_in mutation in the GLI3 gene which results_in abnormal development located_in limb, located_in head, located_in face. (DO)" [http://en.wikipedia.org/wiki/Greig_cephalopolysyndactyly_syndrome "DO", http://ghr.nlm.nih.gov/condition/greig-cephalopolysyndactyly-syndrome "DO", http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=6550 "DO"] synonym: "cephalopolysyndactyly syndrome" EXACT [] synonym: "GCPS" EXACT [] synonym: "Greig cephalopolysyndactyly (GCPS) syndrome" EXACT [] synonym: "GREIG CEPHALOPOLYSYNDACTYLY SYNDROME, SEVERE" NARROW [] synonym: "Greig syndrome" EXACT [] synonym: "polysyndactyly with peculiar skull shape" EXACT [] synonym: "polysyndactyly with peculiars skull shape" EXACT [] xref: GARD:6550 xref: MESH:C537300 xref: NCI:C35255 xref: ORDO:380 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:225 ! syndrome [Term] id: DOID:14762 name: calcaneonavicular coalition alt_id: MIM:186400 alt_id: RDO:0004092 def: "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. (DO)" [http://ghr.nlm.nih.gov/condition/tarsal-carpal-coalition-syndrome "DO"] synonym: "Multiple synostosis syndrome" EXACT [SNOMEDCT_2005_07_31:62628008] synonym: "tarsal, carpal, and digital synostoses" EXACT [] xref: MESH:C538156 is_a: DOID:11971 ! synostosis [Term] id: DOID:14764 name: Larsen syndrome alt_id: MIM:150250 def: "A syndrome that is characterized by autosomal dominant inheritance of large-joint dislocations and characteristic craniofacial abnormalities. (DO)" [http://en.wikipedia.org/wiki/Larsen_syndrome "DO", https://ghr.nlm.nih.gov/condition/larsen-syndrome "DO"] synonym: "dominant Larsen syndrome" EXACT [] synonym: "FLNB-related spectrum disorder" RELATED [] synonym: "FLNB-related spectrum disorders" RELATED [] synonym: "Larsen syndrome, autosomal dominant" EXACT [] synonym: "Larsen syndrome, dominant type" EXACT [] synonym: "LRS" EXACT [] xref: GARD:6860 xref: MESH:C537873 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:674 ! cleft palate is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9004353 ! Larsen Syndromes is_a: DOID:9009007 ! Tooth Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:14766 name: renal agenesis def: "A renal disease that is characterized by the failure of one or both kidneys to develop. (DO)" [https://en.wikipedia.org/wiki/Renal_agenesis "DO"] synonym: "bilateral renal agenesis" EXACT [] synonym: "hereditary renal agenesis" EXACT [] synonym: "Hereditary Renal Aplasia" EXACT [] synonym: "hereditary urogenital adysplasia" EXACT [] synonym: "HRA" EXACT [] synonym: "RENAL ADYSPLASIA" EXACT [] synonym: "renal aplasia" EXACT [] xref: GARD:9228 xref: MESH:C536482 xref: MESH:C563261 xref: MIM:PS191830 xref: NCI:C99041 xref: ORDO:93108 is_a: DOID:557 ! kidney disease is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:14768 name: Saethre-Chotzen syndrome def: "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull. (DO)" [http://children.webmd.com/saethre-chotzen-syndrome "DO", http://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome "DO", http://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome "DO", http://www.healthline.com/galecontent/saethre-chotzen-syndrome "DO", https://www.faces-cranio.org/saethre-chotzen "DO"] synonym: "acrocephalosyndactylies, type 3" EXACT [] synonym: "acrocephalosyndactylies, type III" EXACT [] synonym: "acrocephalosyndactyly III" EXACT [] synonym: "acrocephalosyndactyly type III" EXACT [] synonym: "ACS3" EXACT [] synonym: "ACS III" EXACT [] synonym: "BLEPHAROPHIMOSIS, EPICANTHUS INVERSUS, AND PTOSIS 3" EXACT [] synonym: "BPES3" EXACT [] synonym: "Chotzen syndrome" EXACT [] synonym: "MIM:101400" EXACT [] synonym: "Saethre-Chotzen syndrome with eyelid anomalies" EXACT [] synonym: "SCS" EXACT [] xref: GARD:7598 xref: MESH:C566325 xref: NCI:C75034 xref: ORDO:794 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:12960 ! acrocephalosyndactylia [Term] id: DOID:14773 name: cartilage-hair hypoplasia alt_id: MIM:250250 def: "An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. (DO)" [https://ghr.nlm.nih.gov/condition/cartilage-hair-hypoplasia "DO", https://www.ncbi.nlm.nih.gov/pubmed/11207361 "DO"] synonym: "cartilage hair syndrome" EXACT [] synonym: "CHH" EXACT [] synonym: "McKusick metaphyseal chondrodysplasia syndrome" EXACT [] synonym: "metaphyseal chondrodysplasia, McKusick type" EXACT [] synonym: "metaphyseal chondrodysplasia, recessive type" EXACT [] xref: MESH:C535916 xref: NCI:C61245 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:14775 name: brittle cornea syndrome 1 alt_id: MIM:229200 def: "An Ehlers-Danlos syndrome that is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints and has_material_basis_in homozygous mutation in the ZNF469 gene on chromosome 16q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28306229/ "DO"] synonym: "BCS1" EXACT [] synonym: "CORNEAL FRAGILITY KERATOGLOBUS, BLUE SCLERAE AND JOINT HYPERMOBILITY" EXACT [] synonym: "Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility" EXACT [] synonym: "Dysgenesis Mesodermalis Corneae et Sclerae" EXACT [] synonym: "EDS6B" EXACT [] synonym: "Ehlers-Danlos syndrome 6B" EXACT [] synonym: "Ehlers-Danlos Syndrome, Type VIB" EXACT [] synonym: "fragilitas oculi with joint hyperextensibility" EXACT [] synonym: "ZNF469-RELATED CONDITION" EXACT [] xref: GARD:1019 xref: MESH:C536192 xref: NCI:C125700 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005468 ! Brittle Cornea Syndrome created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:14777 name: benign familial neonatal epilepsy synonym: "benign familial neonatal convulsions" EXACT [] synonym: "Benign Familial Neonatal Infantile Seizures" EXACT [] synonym: "benign familial neonatal seizures" EXACT [] synonym: "familial neonatal seizures" EXACT [] xref: GARD:2159 is_a: DOID:0050702 ! neonatal period electroclinical syndrome created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:14778 name: blepharophimosis, ptosis, and epicanthus inversus syndrome alt_id: MESH:C566222 alt_id: MIM:110100 def: "A syndrome characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus with (type I) or without (premature ovarian failure) that has_material_basis_in heterozygous or rarely homozygous mutation in the FOXL2 gene on chromosome 3q22.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11175783 "DO"] synonym: "blepharophimosis, ptosis, and epicanthus inversus" EXACT [] synonym: "blepharophimosis-ptosis-epicanthus inversus syndrome" EXACT [] synonym: "blepharophimosis syndrome" EXACT [] synonym: "BPES" EXACT [] synonym: "BPES with Duane retraction syndrome" NARROW [] xref: EFO:0004883 xref: MESH:C562419 xref: MONDO:0007201 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:10348 ! blepharophimosis is_a: DOID:12557 ! Duane retraction syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:14780 name: KBG syndrome alt_id: MIM:148050 def: "A syndrome that is characterized by short stature, moderate to severe degrees of mental retardation, developmental abnormalities of the limbs, bones of the spine (vertebrae), extremities, and/or underdevelopment of the bones of the skeleton. (DO)" [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=KBG%20Syndrome "DO", https://www.kbgfoundation.com/home.html "DO"] synonym: "ANKRD11-RELATED CONDITION" BROAD [] synonym: "KBGS" EXACT [] synonym: "Short stature, characteristic facies, macrodontia, mental retardation, and skeletal anomalies" EXACT [] xref: GARD:82 xref: MESH:C537015 xref: ORDO:2332 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:14784 name: olivopontocerebellar atrophy def: "A neurodegenerative disease that is characterized by progressive cerebellar ataxia, leading to clumsiness in body movements, veering from midline when walking, wide-based stance, and falls without signs of paralysis or weakness and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in degeneration of neuron in the cerebellum, pons and inferior olives. (DO)" [http://www.ninds.nih.gov/disorders/opca/opca.htm "DO"] synonym: "Dejerine Thomas syndrome" EXACT [] synonym: "familial olivopontocerebellar atrophies" EXACT [] synonym: "Familial Olivopontocerebellar Atrophy" EXACT [] synonym: "Idiopathic Olivopontocerebellar Atrophies" EXACT [] synonym: "Idiopathic Olivopontocerebellar Atrophy" EXACT [] synonym: "Inherited Olivopontocerebellar Atrophies" EXACT [] synonym: "Inherited Olivopontocerebellar Atrophy" EXACT [] synonym: "Nonfamilial Olivopontocerebellar Atrophies" EXACT [] synonym: "Nonfamilial Olivopontocerebellar Atrophy" EXACT [] synonym: "olivopontocerebellar atrophies" EXACT [] synonym: "Olivo Ponto Cerebellar Atrophy" EXACT [] synonym: "Olivo Ponto Cerebellar Degeneration" EXACT [] synonym: "Olivopontocerebellar Degeneration" EXACT [] synonym: "Olivo-Ponto-Cerebellar Degenerations" EXACT [] synonym: "Olivopontocerebellar Degenerations" EXACT [] synonym: "Olivopontocerebellar Hypoplasia" EXACT [] synonym: "Pontoolivocerebellar Atrophies" EXACT [] synonym: "Pontoolivocerebellar Atrophy" EXACT [] synonym: "Presenile Ataxia" EXACT [] synonym: "presenile ataxias" EXACT [] synonym: "Thomas' syndrome" EXACT [] synonym: "Wadia-Swami syndrome" EXACT [] xref: MESH:D009849 xref: NCI:C84947 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:4752 ! multiple system atrophy is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:14789 name: spondyloepiphyseal dysplasia congenita alt_id: MIM:183900 def: "A spondyloepiphyseal dysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies that has_material_basis_in heterozygous mutation in the COL2A1 gene on chromosome 12q13.11. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1971141/ "DO"] synonym: "SEDC" EXACT [] synonym: "SED congenita" EXACT [] synonym: "SED, congenital type" EXACT [] synonym: "Spondyloepiphyseal dysplasia, congenital type" EXACT [] synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED; SEDT" EXACT [] xref: GARD:4987 xref: MESH:C535788 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0112280 ! spondyloepiphyseal dysplasia [Term] id: DOID:14791 name: Leber congenital amaurosis def: "A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness. (DO)" [http://en.wikipedia.org/wiki/Leber%27s_congenital_amaurosis "DO"] synonym: "congenital amaurosis of retinal origin" EXACT [] synonym: "congenital retinal blindness" EXACT [] synonym: "dysgenesis neuroepithelialis retinae" EXACT [] synonym: "hereditary epithelial dysplasia of retina" EXACT [] synonym: "hereditary retinal aplasia" EXACT [] synonym: "Heredoretinopathia Congenitalis" EXACT [] synonym: "LCA" EXACT [] synonym: "Leber's amauroses" EXACT [] synonym: "Leber's amaurosis" EXACT [] synonym: "Leber's congenital amaurosis" EXACT [] synonym: "Leber's disease" EXACT [] synonym: "Leber abiotrophies" EXACT [] synonym: "Leber Abiotrophy" EXACT [] synonym: "Leber amaurosis" EXACT [] synonym: "Leber congenital amauroses" EXACT [] synonym: "Leber congenital tapetoretinal degeneration" EXACT [] synonym: "Lebers amaurosis" EXACT [] xref: GARD:634 xref: MESH:D057130 xref: MIM:PS204000 xref: NCI:C129075 xref: ORDO:65 is_a: DOID:0080015 ! physical disorder is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:14793 name: hypohidrotic ectodermal dysplasia def: "An ectodermal dysplasia that is characterized by malformation of ectodermal (skin, hair, teeth and sweat glands) structures including hypotrichosis (sparseness of scalp and body hair), hypohidrosis (reduced ability to sweat), and hypodontia (congenital absence of teeth). (DO)" [http://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia "DO", http://www.ncbi.nlm.nih.gov/books/NBK1112/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=238468 "DO"] xref: GARD:76 xref: NCI:C84562 xref: ORDO:238468 is_a: DOID:11155 ! hypohidrosis is_a: DOID:13714 ! anodontia is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4535 ! hypotrichosis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:14796 name: Dubowitz syndrome alt_id: MIM:223370 def: "A syndrome that is characterized by microcephaly, growth retardation and a characteristic facial appearance including but not limited to narrow or triangular shaped head, micrognathia, ptosis, a broad, wide-tipped nose, and wide-set eyes with drooping eyelids. (DO)" [http://en.wikipedia.org/wiki/Dubowitz_syndrome "DO"] synonym: "Dubowitz's syndrome" EXACT [] synonym: "dwarfism-eczema-peculiar facies syndrome" EXACT [] xref: GARD:6290 xref: MESH:C535718 xref: NCI:C125591 xref: ORDO:235 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007356 ! Eczema [Term] id: DOID:14798 name: Blount's disease alt_id: MIM:188700 alt_id: MIM:259200 def: "An osteochondrodysplasia that results_in inward turning of lower leg, located_in tibia, which fails to develop normally. (DO)" [http://en.wikipedia.org/wiki/Blount%27s_disease "DO", http://www.e-radiography.net/radpath/b/blountsdisease.htm "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001584.htm "DO", http://www.wheelessonline.com/ortho/blounts_disease "DO"] synonym: "Blount disease" EXACT [] synonym: "Blount disease, adolescent" EXACT [] synonym: "osteochondrosis deformans tibiae" EXACT [] synonym: "osteochondrosis deformans tibiae, adolescent" EXACT [] synonym: "osteochondrosis deformans tibiae, familial infantile type" EXACT [] synonym: "tibia vara" EXACT [] synonym: "tibia vara, adolescent" EXACT [] xref: GARD:916 xref: MESH:C536237 is_a: DOID:0080006 ! bone development disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:1483 name: gingival disease def: "A periodontal disease that is located_in the gums. (DO)" [https://www.nidcr.nih.gov/health-info/gum-disease/more-info "DO"] synonym: "gingival diseases" EXACT [] synonym: "gingival disorder" EXACT [] synonym: "gingivoses" EXACT [] synonym: "gingivosis" EXACT [] synonym: "gum disease" EXACT [] xref: EFO:0009670 xref: MESH:D005882 xref: MONDO:0002021 xref: NCI:C173795 is_a: DOID:3388 ! periodontal disease [Term] id: DOID:1485 name: cystic fibrosis alt_id: DOID:9006271 def: "A syndrome that is characterized by the buildup of thick, sticky mucus that can damage many organs. (DO)" [http://en.wikipedia.org/wiki/Cystic_fibrosis "DO", http://ghr.nlm.nih.gov/condition/cystic-fibrosis "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/cf/ "DO", https://www.genome.gov/Genetic-Disorders/Cystic-Fibrosis "DO"] synonym: "CF" EXACT [] synonym: "CFM1" EXACT [] synonym: "cystic fibrosis, modifier of, 1" RELATED [] synonym: "cystic fibrosis of pancreas" EXACT [] synonym: "fibrocystic disease of pancreas" EXACT [] synonym: "lung disease associated with cystic fibrosis" NARROW [] synonym: "meconium ileus in cystic fibrosis, susceptibility to" RELATED [] synonym: "Mucoviscidosis" EXACT [] synonym: "Nonclassic cystic fibrosis" NARROW [] synonym: "pancreas fibrocystic disease" EXACT [] synonym: "pancreas fibrocystic diseases" EXACT [] synonym: "pancreatic cystic fibrosis" EXACT [] synonym: "pulmonary cystic fibrosis" EXACT [] synonym: "susceptibility to chronic infection by pseudomonas aeruginosa in cystic fibrosis" RELATED [] synonym: "sweat chloride elevation without cystic fibrosis" RELATED [] xref: EFO:0000390 xref: EFO:0009797 xref: GARD:6233 xref: ICD10CM:E84 xref: ICD9CM:277.0 xref: MESH:D003550 xref: MIM:219700 xref: MIM:603855 xref: MONDO:0009061 xref: NCI:C2975 xref: ORDO:586 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:26 ! pancreas disease is_a: DOID:8437 ! intestinal obstruction is_a: DOID:850 ! lung disease is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:1495 name: cystic echinococcosis def: "An echinococcosis that is caused by the larvae of Echinococcus granulosus. Hepatic involvement can result in abdominal pain, a mass in the hepatic area, and biliary duct obstruction. Pulmonary involvement can produce chest pain, cough, and hemoptysis. Rupture of the cysts produce fever, urticaria, eosinophilia, and anaphylactic shock, as well as cyst dissemination. Brain, bone, heart can also be infected. (DO)" [http://www.who.int/mediacentre/factsheets/fs377/en/ "DO"] synonym: "echinococcus granulosus" EXACT [] synonym: "echinococcus granulosus infection" EXACT [] synonym: "echinococcus granulosus infection of lung" EXACT [] synonym: "echinococcus granulosus infection of thyroid" EXACT [] synonym: "echinococcus granulosus infectious disease" EXACT [] synonym: "echinococcus granulosus infectious disease of liver" EXACT [] synonym: "echinococcus granulosus infectious disease of thyroid" EXACT [] synonym: "liver echinococcus granulosus" EXACT [] synonym: "lung echinococcus granulosus" EXACT [] synonym: "thyroid echinococcus granulosus" EXACT [] synonym: "unilocular echinococcosis" EXACT [] synonym: "unilocular hydatid disease" EXACT [] xref: ICD10CM:B67.4 xref: ICD9CM:122.4 is_a: DOID:0080001 ! bone disease is_a: DOID:114 ! heart disease is_a: DOID:1496 ! echinococcosis is_a: DOID:409 ! liver disease is_a: DOID:850 ! lung disease is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:1496 name: echinococcosis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. (DO)" [http://en.wikipedia.org/wiki/Echinococcosis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=echinococcosis "DO"] synonym: "echinococcal disease" EXACT [] synonym: "echinococcoses" EXACT [] synonym: "echinococcosis of liver" EXACT [] synonym: "hepatic echinococcosis" EXACT [] synonym: "Hydatid Cyst" EXACT [] synonym: "Hydatid Cysts" EXACT [] synonym: "hydatid disease" EXACT [] synonym: "Hydatidoses" EXACT [] synonym: "hydatidosis" EXACT [] synonym: "liver echinococcus" EXACT [] xref: EFO:0007245 xref: ICD10CM:B67 xref: ICD9CM:122 xref: MESH:D004443 xref: NCI:C84682 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9006970 ! Cestode Infections [Term] id: DOID:1498 name: cholera def: "A primary bacterial infectious disease that is described as an acute, diarrheal illness caused by infection of the intestine with the bacterium Vibrio cholerae, which is characterized by profuse watery diarrhea, vomiting, leg cramps, circulatory collapse and shock. (DO)" [http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/#what "DO", http://www.cdc.gov/nczved/divisions/dfbmd/diseases/cholera/technical.html "DO"] synonym: "cholera due to Vibrio cholerae" EXACT [] synonym: "choleras" EXACT [] synonym: "cholera - Vibrio cholerae" EXACT [] synonym: "Vibrio cholerae" EXACT [] xref: GARD:6043 xref: ICD10CM:A00 xref: ICD9CM:001 xref: MESH:D002771 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9001564 ! Vibrio Infections [Term] id: DOID:15 name: reproductive system disease alt_id: DOID:6309 def: "A disease of anatomical entity that is located_in reproductive system organs. (DO)" [http://en.wikipedia.org/wiki/Reproductive_system "DO"] synonym: "genital system disease" EXACT [] xref: EFO:0000512 xref: NCI:C27613 is_a: DOID:7 ! disease of anatomical entity is_a: DOID:9009146 ! Urogenital Diseases [Term] id: DOID:150 name: disease of mental health def: "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture. (DO)" [http://en.wikipedia.org/wiki/Mental_disorder "DO"] subset: RGD_JBrowse_slim synonym: "behavior disorders" EXACT [] synonym: "Mental Disorder" EXACT [] synonym: "mental disorders" EXACT [] synonym: "Psychiatric Diagnosis" EXACT [] synonym: "severe mental disorder" EXACT [] synonym: "severe mental disorders" EXACT [] xref: EFO:0000677 xref: EFO:0001335 xref: ICD10CM:F99 xref: MESH:D001523 xref: NCI:C2893 is_a: DOID:936 ! brain disease [Term] id: DOID:1508 name: candidiasis def: "An opportunistic mycosis that involves fungal infection of the mouth, throat, skin, scalp, vagina, fingers, nails, bronchi, lungs, heart and brain by Candida species, of which Candida albicans is the most common. Systemic Candida infections are usually confined to severely immunocompromised persons. (DO)" [http://en.wikipedia.org/wiki/Candidiasis "DO", http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ "DO"] synonym: "candidiases" EXACT [] synonym: "disseminated candidiasis" EXACT [] synonym: "familial candidiasis, dominant" NARROW [] synonym: "moniliases" EXACT [] synonym: "moniliasis" EXACT [] xref: ICD10CM:B37 xref: ICD9CM:112 xref: MESH:D002177 xref: MONDO:0002026 xref: NCI:C26711 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:1509 name: avoidant personality disorder def: "A personality disorder that is characterized by a pervasive pattern of social inhibition, feelings of inadequacy, extreme sensitivity to negative evaluation, and avoidance of social interaction. (DO)" [http://en.wikipedia.org/wiki/Avoidant_personality_disorder "DO"] synonym: "anxious personality disorder" EXACT [] xref: ICD10CM:F60.6 xref: ICD9CM:301.82 xref: NCI:C92636 is_a: DOID:1510 ! personality disorder created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:1510 name: personality disorder def: "A disease of mental health that involve long-term patterns of thoughts and behaviors that cause serious problems with relationships and work. (DO)" [http://www.nlm.nih.gov/medlineplus/personalitydisorders.html "DO"] synonym: "As If Personality" EXACT [] synonym: "character disorder" EXACT [] synonym: "Impulse Ridden Personality" EXACT [] synonym: "Inadequate Personality" EXACT [] synonym: "personality disorders" EXACT [] xref: ICD9CM:301.8 xref: MESH:D010554 is_a: DOID:150 ! disease of mental health [Term] id: DOID:1512 name: chronic gonorrhea of cervix def: "A chronic cervicitis that is caused by gonorrhea. (DO)" [https://en.wikipedia.org/wiki/Gonorrhea "DO"] synonym: "chronic gonococcal cervicitis" EXACT [] xref: ICD9CM:098.35 xref: MONDO:0002029 is_a: DOID:1513 ! chronic cervicitis is_a: DOID:7551 ! gonorrhea created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1513 name: chronic cervicitis def: "A cervicitis that is present for weeks or more. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27243142 "DO"] xref: NCI:C27057 is_a: DOID:2568 ! cervicitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1517 name: cecal benign neoplasm def: "An intestinal benign neoplasm that is located_in the cecum. (DO)" [http://en.wikipedia.org/wiki/Cecum "DO"] synonym: "cecum neoplasm" EXACT [] synonym: "EFO:0009255" EXACT [] synonym: "neoplasm of caecum" EXACT [] xref: EFO:0007197 xref: EFO:0009255 xref: NCI:C4433 is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:9003694 ! Cecal Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1518 name: cecal disease def: "An intestinal disease located_in the cecum. (DO)" [https://en.wikipedia.org/wiki/Cecum "DO"] synonym: "cecal diseases" EXACT [] synonym: "disorder of cecum" EXACT [] xref: MESH:D002429 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:1519 name: cecum carcinoma def: "A cecum cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "caecum carcinoma" EXACT [] synonym: "carcinoma of cecum" EXACT [] synonym: "EFO:1000021" EXACT [] xref: EFO:1000021 xref: NCI:C3491 is_a: DOID:1521 ! cecum cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1520 name: colon carcinoma def: "A colon cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "carcinoma of colon" EXACT [] synonym: "colonic carcinoma" EXACT [] synonym: "EFO:1001950" EXACT [] xref: EFO:0000363 xref: EFO:1001950 xref: NCI:C4910 xref: RDO:9002019 is_a: DOID:219 ! colon cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:1521 name: cecum cancer def: "A large intestine cancer that is located_in the cecum. (DO)" [http://en.wikipedia.org/wiki/Cecum "DO"] synonym: "cancer of cecum" EXACT [] synonym: "cancer of the cecum" EXACT [] synonym: "cecal cancer" EXACT [] synonym: "malignant neoplasm of caecum" EXACT [] synonym: "malignant tumor of the cecum" EXACT [] xref: ICD10CM:C18.0 xref: ICD9CM:153.4 xref: NCI:C9329 is_a: DOID:5672 ! large intestine cancer is_a: DOID:9003694 ! Cecal Neoplasms created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1522 name: cecum lymphoma synonym: "cecal lymphoma" EXACT [] xref: NCI:C5515 is_a: DOID:0060058 ! lymphoma is_a: DOID:1521 ! cecum cancer created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:1523 name: colon lymphoma synonym: "colonic lymphoma" EXACT [] xref: NCI:C4793 is_a: DOID:0060058 ! lymphoma is_a: DOID:219 ! colon cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:1525 name: nodular nonsuppurative panniculitis def: "A form of panniculitis characterized by recurrent episodes of fever accompanied by the eruption of single or multiple erythematous subcutaneous nodules on the lower extremities. They normally resolve, but tend to leave depressions in the skin. The condition is most often seen in women, alone or in association with other disorders." [MESH:D010201] synonym: "nodular non-suppurative febrile panniculitis" EXACT [SNOMEDCT_2005_07_31:203121003] synonym: "Nodular Nonsuppurative Panniculitides" EXACT [] synonym: "Relapsing febrile nodular nonsuppurative panniculitis" EXACT [SNOMEDCT_2005_07_31:33760009] synonym: "Weber Christian Disease" EXACT [] xref: EFO:1000742 xref: ICD10CM:M35.6 xref: MESH:D010201 xref: RDO:0006272 is_a: DOID:1526 ! panniculitis [Term] id: DOID:1526 name: panniculitis def: "A skin disease that is characterized by inflammation of subcutaneous adipose tissue. (DO)" [https://en.wikipedia.org/wiki/Panniculitis "DO"] synonym: "Cold Panniculitides" EXACT [] synonym: "cold panniculitis" EXACT [] synonym: "panniculitides" EXACT [] synonym: "subacute nodular migratory panniculitis" EXACT [] xref: EFO:1000746 xref: ICD10CM:M79.3 xref: ICD9CM:729.30 xref: MESH:D015434 xref: NCI:C112112 is_a: DOID:10223 ! dermatomyositis is_a: DOID:631 ! fibromyalgia [Term] id: DOID:1529 name: penile disease def: "Pathological processes involving the PENIS or its component tissues." [MESH:D010409] synonym: "penile diseases" EXACT [] synonym: "penis disease" EXACT [] synonym: "penis diseases" EXACT [] xref: ICD10CM:N48.8 xref: ICD9CM:607.8 xref: MESH:D010409 xref: MONDO:0002036 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:1532 name: pleural disease def: "A thoracic disease which may involve inflammation of pleura, collection of air within the pleural cavity, abnormal collection of pleural fluid, abnormal growths on the pleura (pleural tumor) and pleural plaques. The main causes of pleural diseases including pleural effusions are congestive heart failure, malignancy, parapneumonic infections and pulmonary embolism. (DO)" [http://en.wikipedia.org/wiki/Pleural_disease "DO"] synonym: "disorder of pleura" EXACT [] synonym: "non-neoplastic pleural disease" EXACT [] synonym: "pleural diseases" EXACT [] xref: MESH:D010995 xref: NCI:C26859 is_a: DOID:0050161 ! lower respiratory tract disease [Term] id: DOID:154 name: mixed cell type cancer def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from two germinal layers of tissue. (DO)" [http://medical-dictionary.thefreedictionary.com/mixed+neoplasm "DO"] synonym: "EFO:1000356" EXACT [] synonym: "malignant mixed cancer" EXACT [] synonym: "malignant mixed neoplasm" RELATED [NCI2004_11_17:C3729] synonym: "mixed neoplasm" RELATED [] synonym: "mixed tumor" RELATED [] xref: EFO:0007373 xref: EFO:1000356 xref: NCI:C3729 xref: NCI:C6930 is_a: DOID:0050687 ! cell type cancer is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:1540 name: parathyroid carcinoma alt_id: MIM:608266 def: "An endocrine gland cancer located_in the parathyroid glands located in the neck. (DO)" [http://en.wikipedia.org/wiki/Parathyroid_gland "DO"] synonym: "carcinoma of parathyroid gland" EXACT [] synonym: "EFO:1000456" EXACT [] synonym: "malignant neoplasm of parathyroid gland" EXACT [] synonym: "malignant neoplasm of the parathyroid" EXACT [NCI2004_11_17:C9322] synonym: "malignant tumor of parathyroid gland" EXACT [] synonym: "neoplasm of parathyroid gland" EXACT [SNOMEDCT_2005_07_31:127020005] synonym: "parathyroid carcinomas" EXACT [] synonym: "parathyroid carcinoma, somatic" NARROW [] synonym: "parathyroid gland adenocarcinoma" EXACT [] synonym: "parathyroid gland cancer" EXACT [] synonym: "PRTC" EXACT [] xref: EFO:1000456 xref: GARD:7329 xref: ICD10CM:C75.0 xref: ICD9CM:194.1 xref: NCI:C3313 xref: NCI:C4906 xref: NCI:C9322 xref: RDO:9003921 is_a: DOID:305 ! carcinoma is_a: DOID:9007696 ! Parathyroid Cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1542 name: head and neck carcinoma def: "A head and neck cancer that has_material_basis_in epithelial cells and is located in the upper aerodigestive tract, including the lip, oral cavity (mouth), nasal cavity, paranasal sinuses, pharynx, and larynx. (DO)" [http://en.wikipedia.org/wiki/Head_and_neck_cancer "DO", http://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=14.09e&code=C35850&ns=NCI_Thesaurus&key=153772862&b=1&n=null "DO", http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck "DO"] synonym: "carcinoma of neck" EXACT [] synonym: "carcinoma of the neck" EXACT [] xref: MONDO:0002038 xref: NCI:C6077 is_a: DOID:11934 ! head and neck cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:1554 name: vibratory urticaria alt_id: MESH:C536347 alt_id: MIM:125630 def: "A physical urticaria that is characterized by itching, reddish skin and swelling within minutes of local exposure to dermal vibration and that has_material_basis_in heterozygous mutation in the ADGRE2 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26841242/ "DO"] synonym: "VBU" EXACT [] synonym: "VIBRATORY ANGIOEDEMA" EXACT [] xref: EFO:1000775 xref: GARD:9806 xref: ICD10CM:L50.4 xref: ICD9CM:708.4 xref: MESH:D000094482 is_a: DOID:0060220 ! physical urticaria is_a: DOID:1558 ! angioedema [Term] id: DOID:1555 name: urticaria def: "A skin disease characterized by skin rash notable for pale red, raised and itchy bumps, located_in the upper dermis. (DO)" [http://en.wikipedia.org/wiki/Urticaria "DO"] synonym: "Hives" EXACT [] synonym: "urticarias" EXACT [] xref: EFO:0005531 xref: ICD9CM:708.8 xref: MESH:D014581 is_a: DOID:9002850 ! Immediate Hypersensitivity is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:1556 name: arthus reaction def: "A hypersensitivity reaction type III disease that is characterized by local vasculitis, has_symptom pain, edema, hemorrhage, or necrosis, and has_material_basis_in deposition of antigen-antibody immune complexes in vascular or serosal walls. (DO)" [https://en.wikipedia.org/wiki/Arthus_reaction "DO"] synonym: "arthus phenomenon" EXACT [] synonym: "arthus type urticaria" EXACT [] xref: EFO:1000821 xref: ICD10CM:T78.41 xref: ICD9CM:995.21 xref: MESH:D001183 xref: NCI:C34400 is_a: DOID:1557 ! hypersensitivity reaction type III disease [Term] id: DOID:1557 name: hypersensitivity reaction type III disease def: "A hypersensitivity reaction disease that is characterized by the accumulation of antigen-antibody immune complexes, causing an inflammatory response and injury. (DO)" [https://en.wikipedia.org/wiki/Type_III_hypersensitivity "DO"] synonym: "Immune Complex Disease" EXACT [] synonym: "Immune Complex Diseases" EXACT [] synonym: "Type III Hypersensitivities" EXACT [] synonym: "Type III Hypersensitivity" EXACT [] xref: EFO:1001222 xref: MESH:D007105 is_a: DOID:0060056 ! hypersensitivity reaction disease is_a: DOID:1205 ! allergic disease [Term] id: DOID:1558 name: angioedema def: "A skin disease characterized by one or more areas of well-demarcated, non-pitting edema of deep subcutaneous tissues. (DO)" [http://en.wikipedia.org/wiki/Angioedema "DO", https://www.ncbi.nlm.nih.gov/books/NBK430889/ "DO"] synonym: "angioedemas" EXACT [] synonym: "Angioneurotic Edema" EXACT [] synonym: "angioneurotic edemas" EXACT [] synonym: "angioneurotic oedema" EXACT [] synonym: "Giant Urticaria" EXACT [] synonym: "Giant Urticarias" EXACT [] synonym: "Quincke's edema" EXACT [] synonym: "Quincke Edema" EXACT [] synonym: "Quinckes edema" EXACT [] xref: EFO:0005532 xref: ICD10CM:T78.3 xref: MESH:D000799 xref: MONDO:0010481 xref: NCI:C112175 is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:1561 name: cognitive disorder def: "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving. (DO)" [http://en.wikipedia.org/wiki/Cognitive_disorder "DO"] synonym: "Clerambault syndrome" EXACT [] synonym: "cognition disorder" EXACT [] synonym: "Cognition Disorders" EXACT [] synonym: "cognitive disease" EXACT [] synonym: "Delirium, Dementia, Amnestic, Cognitive Disorders" EXACT [] synonym: "Kandinsky Syndrome" EXACT [] synonym: "Neurocognitive Disorder" EXACT [] synonym: "Neurocognitive Disorders" EXACT [] synonym: "Nonpsychotic Organic Brain Syndrome" EXACT [] synonym: "Organic Mental Disorder" EXACT [] synonym: "Organic Mental Disorders" EXACT [] synonym: "overinclusion" EXACT [] synonym: "psychotic organic mental disorders" EXACT [] synonym: "traumatic psychoses" EXACT [] xref: EFO:1001457 xref: ICD10CM:F09 xref: MESH:D003072 xref: MESH:D019965 xref: NCI:C34870 is_a: DOID:150 ! disease of mental health [Term] id: DOID:1562 name: chromoblastomycosis def: "A subcutaneous mycosis that is a chronic subcutaneous fungal infection, which presents as nodular or verrucoid, ulcerated, or crusted skin lesions on exposed areas of skin caused by Fonsecaea pedrosoi, Fonsecaea compacta, Cladophialophora carrionii or Phialophora verrucosa. Histological examination reveals muriform cells (with perpendicular septations) or thick walled, dark-colored, rounded forms (copper pennies) that are characteristic of this infection. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4005 "DO"] synonym: "chromoblastomycoses" EXACT [] synonym: "chromomycoses" EXACT [] synonym: "chromomycosis" EXACT [] synonym: "dermatitis verrucosa" EXACT [] synonym: "mossy foot disease" EXACT [] xref: EFO:0007207 xref: GARD:1319 xref: ICD10CM:B43.9 xref: ICD9CM:117.2 xref: MESH:D002862 is_a: DOID:0050135 ! subcutaneous mycosis is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:1563 name: dermatomycosis def: "A cutaneous mycosis that results in fungal infection located in skin or of its appendages, has_material_basis_in Ascomycota fungi other than the dermatophytes. (DO)" [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4004 "DO"] synonym: "dermatomycoses" EXACT [] synonym: "fungal skin disease" EXACT [] synonym: "fungal skin diseases" EXACT [] xref: ICD9CM:111.9 xref: MESH:D003881 is_a: DOID:0050134 ! cutaneous mycosis is_a: DOID:9000859 ! Infectious Skin Diseases [Term] id: DOID:1564 name: fungal infectious disease def: "A disease by infectious agent that results_in infection, has_material_basis_in Fungi, which pass the resistance barriers of the human or animal body. (DO)" [http://en.wikipedia.org/wiki/Mycoses "DO"] synonym: "Fungal Disease" EXACT [] synonym: "fungal diseases" EXACT [] synonym: "Fungal Infection" EXACT [] synonym: "fungal infections" EXACT [] synonym: "Fungus Disease" EXACT [] synonym: "Fungus Diseases" EXACT [] synonym: "Fungus Infection" EXACT [] synonym: "fungus infections" EXACT [] synonym: "mycoses" EXACT [] synonym: "mycosis" EXACT [] xref: ICD10CM:B49 xref: ICD9CM:110-118.99 xref: MESH:D009181 xref: NCI:C3245 is_a: DOID:9004384 ! Bacterial Infections and Mycoses [Term] id: DOID:1569 name: mechanical ectropion xref: ICD9CM:374.12 is_a: DOID:1570 ! ectropion [Term] id: DOID:1570 name: ectropion def: "The turning outward (eversion) of the edge of the eyelid, resulting in the exposure of the palpebral conjunctiva. (Dorland, 27th ed)" [] synonym: "ectropion of eyelid" EXACT [] synonym: "ectropions" EXACT [] synonym: "everted margin" EXACT [] xref: ICD10CM:H02.1 xref: ICD9CM:374.1 xref: MESH:D004483 is_a: DOID:530 ! eyelid disease [Term] id: DOID:1571 name: spastic ectropion xref: ICD9CM:374.13 is_a: DOID:1570 ! ectropion [Term] id: DOID:1572 name: normal pressure hydrocephalus alt_id: MIM:236690 def: "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)" [MESH:D006850] synonym: "Hakim's Syndrome" EXACT [] synonym: "Hakim's syndromes" EXACT [] synonym: "Hakims Syndrome" EXACT [] synonym: "Hakim Syndrome" EXACT [] synonym: "Hakim Syndromes" EXACT [] synonym: "HYDNP1" EXACT [] synonym: "Low pressure hydrocephalus" EXACT [SNOMEDCT_2005_07_31:69663004] synonym: "normal pressure hydrocephalus 1" EXACT [] synonym: "NPH (normal pressure hydrocephalus)" EXACT [] xref: EFO:1001065 xref: ICD10CM:G91.2 xref: MESH:D006850 is_a: DOID:10908 ! hydrocephalus is_a: DOID:1573 ! communicating hydrocephalus [Term] id: DOID:1573 name: communicating hydrocephalus xref: ICD10CM:G91.0 xref: ICD9CM:331.3 xref: NCI:C34501 is_a: DOID:10908 ! hydrocephalus created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:1574 name: alcohol use disorder def: "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Alcohol_abuse "DO", https://www.niaaa.nih.gov/alcohol-health/overview-alcohol-consumption/alcohol-use-disorders "DO"] synonym: "alcohol abuse" EXACT [] synonym: "Beta-glycopyranoside tasting" RELATED [] synonym: "chronic alcoholic intoxication" EXACT [] synonym: "ethanol abuse" EXACT [] xref: ICD10CM:F10.1 xref: ICD9CM:305.0 xref: MESH:D000437 xref: NCI:C20701 is_a: DOID:302 ! substance abuse is_a: DOID:9004354 ! Alcohol-Related Disorders [Term] id: DOID:1575 name: rheumatic disease def: "A musculoskeletal system disease that involves inflammation or pain in the muscles, joints, or fibrous tissue. (DO)" [http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "DO"] synonym: "rheumatic diseases" EXACT [] synonym: "rheumatism" EXACT [] xref: EFO:0005755 xref: MESH:D012216 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:65 ! connective tissue disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:1577 name: limited scleroderma def: "The least progressive form of SYSTEMIC SCLERODERMA with skin thickening restricted to the face, neck and areas distal to the elbows and/or knees, sparing the trunk. The CREST SYNDROME is a form of limited scleroderma." [MESH:D045745] synonym: "limited cutaneous systemic sclerosis" EXACT [] synonym: "limited systemic scleroderma" EXACT [] synonym: "limited systemic sclerodermas" EXACT [] synonym: "limited systemic sclerosis" EXACT [] xref: EFO:1001017 xref: MESH:D045745 is_a: DOID:418 ! systemic scleroderma [Term] id: DOID:1578 name: pulmonary systemic sclerosis synonym: "lung disease with systemic sclerosis" EXACT [] synonym: "lung involvement in systemic sclerosis" EXACT [] xref: ICD10CM:M34.81 xref: ICD9CM:517.2 is_a: DOID:418 ! systemic scleroderma is_a: DOID:850 ! lung disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:1579 name: respiratory system disease def: "A disease of anatomical entity that located_in the respiratory system which extends from the nasal sinuses to the diaphragm. (DO)" [http://en.wikipedia.org/wiki/File\:Respiratory_system_complete_en.svg "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=respiratory%20system "DO"] subset: RGD_JBrowse_slim synonym: "respiratory disease" EXACT [] synonym: "respiratory system diseases" EXACT [] xref: EFO:0000684 xref: ICD10CM:J98 xref: ICD9CM:519 xref: MESH:D012140 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:1580 name: diffuse scleroderma def: "A rapid onset form of SYSTEMIC SCLERODERMA with progressive widespread SKIN thickening over the arms, the legs and the trunk, resulting in stiffness and disability." [MESH:D045743] synonym: "Diffuse Cutaneous Systemic Sclerosis" EXACT [] synonym: "diffuse systemic scleroses" EXACT [] synonym: "Diffuse Systemic Sclerosis" EXACT [] synonym: "Sudden Onset Scleroderma" EXACT [] synonym: "sudden onset sclerodermas" EXACT [] xref: EFO:0000404 xref: MESH:D045743 xref: NCI:C116791 is_a: DOID:418 ! systemic scleroderma [Term] id: DOID:1583 name: laryngeal tuberculosis def: "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia. (DO)" [http://www.cdc.gov/mmwr/PDF/rr/rr5417.pdf "DO", http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=16749607 "DO", http://www.springerlink.com/content/58281g77v7054641/fulltext.pdf "DO"] synonym: "laryngeal tuberculoses" EXACT [] synonym: "larynx tuberculoses" EXACT [] synonym: "larynx tuberculosis" EXACT [] synonym: "Tuberculosis of Larynx" EXACT [] xref: EFO:0007337 xref: ICD10CM:A15.5 xref: ICD9CM:012.3 xref: MESH:D014387 xref: NCI:C26895 is_a: DOID:3437 ! laryngitis is_a: DOID:399 ! tuberculosis is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:1584 name: acute chest syndrome def: "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph. (DO)" [http://en.wikipedia.org/wiki/Acute_chest_syndrome "DO"] synonym: "acute chest syndrome in sickle cell disease" EXACT [] synonym: "Acute Chest Syndromes" EXACT [] xref: EFO:0007129 xref: ICD9CM:517.3 xref: MESH:D056586 xref: NCI:C138179 is_a: DOID:10923 ! sickle cell anemia is_a: DOID:225 ! syndrome is_a: DOID:850 ! lung disease is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:1586 name: rheumatic fever alt_id: MIM:268240 def: "A connective tissue disease that develops from an antecedent Group A Streptococcal pharyngeal infection and has_symptom carditis, has_symptom polyarthritis, has_symptom chorea, has_symptom erythema marginatum, has_symptom subcutaneous nodules, has_symptom arthralgia, has_symptom prolonged PR interval, and/or has_symptom fever. (DO)" [https://en.wikipedia.org/wiki/Rheumatic_fever "DO", https://medlineplus.gov/ency/article/003940.htm "DO"] synonym: "Acute Articular Rheumatism" EXACT [] synonym: "Acute Articular Rheumatisms" EXACT [] synonym: "Acute Rheumatic Arthritides" EXACT [] synonym: "Acute Rheumatic Arthritis" EXACT [] synonym: "Acute Rheumatic Fever" EXACT [] synonym: "Acute Rheumatic Fevers" EXACT [] synonym: "Inflammatory Rheumatism" EXACT [] synonym: "Polyarthritis Rheumatica" EXACT [] synonym: "Polyarthritis Rheumaticas" EXACT [] synonym: "Rheumatic Arthritis" EXACT [] synonym: "Rheumatic Fevers" EXACT [] synonym: "RhF - rheumatic fever" EXACT [] xref: EFO:1001160 xref: GARD:5699 xref: ICD10CM:I00 xref: ICD10CM:I00-I02 xref: ICD9CM:390 xref: ICD9CM:390-392.99 xref: MESH:D012213 xref: NCI:C34984 is_a: DOID:1575 ! rheumatic disease is_a: DOID:848 ! arthritis is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:1587 name: thrombocytopenia due to platelet alloimmunization synonym: "auto-immune thrombocytopenia" EXACT [] synonym: "immune thrombocytopenia" EXACT [] synonym: "thrombocytopenia due to immune destruction" EXACT [] xref: NCI:C3991 is_a: DOID:1588 ! thrombocytopenia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:1588 name: thrombocytopenia def: "A blood platelet disease that is characterized by low a platelet count in the blood. (DO)" [http://en.wikipedia.org/wiki/Thrombocytopenia "DO", http://ghr.nlm.nih.gov/glossary=thrombocytopenia "DO", http://www.merckmanuals.com/professional/hematology_and_oncology/thrombocytopenia_and_platelet_dysfunction/overview_of_platelet_disorders.html "DO"] synonym: "thrombocytopenias" EXACT [] synonym: "thrombopenia" EXACT [] synonym: "thrombopenias" EXACT [] xref: ICD10CM:D69.6 xref: ICD9CM:287.5 xref: MESH:D013921 xref: MIM:PS313900 xref: MIM:PS613112 xref: ORDO:852 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:1591 name: renovascular hypertension def: "Hypertension due to RENAL ARTERY OBSTRUCTION or compression." [MESH:D006978] synonym: "Goldblatt Hypertension" EXACT [] synonym: "Goldblatt Syndrome" EXACT [] synonym: "renal vascular hypertension" EXACT [] xref: EFO:1001153 xref: ICD10CM:I15.0 xref: MESH:D006978 xref: NCI:C85044 is_a: DOID:1073 ! renal hypertension [Term] id: DOID:1595 name: melancholic depression alt_id: DOID:2848 def: "A major depressive disorder characterized by near-complete absence of pleasure. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15596079/ "DO"] synonym: "clinical depression" EXACT [] synonym: "endogenous depression" EXACT [] synonym: "endogenous depressions" EXACT [] synonym: "major depressive disorder with melancholic features" EXACT [] synonym: "melancholia" EXACT [] synonym: "melancholias" EXACT [] xref: EFO:1002014 xref: NCI:C34532 xref: NCI:C34812 xref: NCI:C35094 is_a: DOID:1470 ! major depressive disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:1596 name: depressive disorder def: "A mood disorder characterized by persistent sadness, emptiness, or irritability and decreased ability to function. (DO)" [https://my.clevelandclinic.org/health/diseases/9290-depression "DO", https://pubmed.ncbi.nlm.nih.gov/31550874/ "DO"] synonym: "depression" EXACT [] synonym: "depressive disorders" EXACT [] synonym: "depressive neuroses" EXACT [] synonym: "depressive neurosis" EXACT [] synonym: "depressive syndrome" EXACT [] synonym: "depressive syndromes" EXACT [] synonym: "depressivity" EXACT [] synonym: "mental depression" EXACT [] synonym: "unipolar depression" EXACT [] synonym: "unipolar depressions" EXACT [] xref: ICD10CM:F33.9 xref: MESH:D003866 xref: NCI:C2982 is_a: DOID:3324 ! mood disorder [Term] id: DOID:16 name: integumentary system disease def: "A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages. (DO)" [http://en.wikipedia.org/wiki/Integumentary_system "DO"] subset: RGD_JBrowse_slim xref: EFO:0010285 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:1602 name: lymphadenitis def: "A lymph node disease that is characterized by an acute or chronic inflammation of one or more lymph nodes. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/lymphadenitis "DO"] synonym: "acute adenitis" EXACT [] synonym: "acute lymphadenitis" EXACT [] synonym: "Adenitides" EXACT [] synonym: "Adenitis" EXACT [] synonym: "chronic adenitis" EXACT [] synonym: "chronic lymphadenitis" EXACT [] synonym: "inflammation of lymph node" EXACT [] synonym: "Lymphadenitides" EXACT [] xref: ICD10CM:I88.1 xref: ICD10CM:L04 xref: ICD10CM:L04.9 xref: ICD9CM:289.1 xref: ICD9CM:683 xref: MESH:D008199 xref: NCI:C26821 xref: NCI:C26966 xref: NCI:C26978 is_a: DOID:9942 ! lymph node disease [Term] id: DOID:1607 name: hypoglycemic coma def: "A brain disease that is characterized by coma or unconsciousness, develops from a prolonged insufficient supply of glucose to the brain, has_symptom decreased cognition, has_symptom seizure, and has_symptom coma. (DO)" [https://en.wikipedia.org/wiki/Hypoglycemia "DO", https://www.mayoclinic.org/diseases-conditions/diabetic-coma/symptoms-causes/syc-20371475 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1838950/ "DO"] xref: ICD10CM:E15 xref: ICD9CM:251.0 xref: NCI:C181765 is_a: DOID:1428 ! endocrine pancreas disease is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:161 name: keratosis def: "A skin disease characterized_by growth of keratin on the skin or mucous membranes. (DO)" [https://en.wikipedia.org/wiki/Keratosis "DO"] synonym: "Keratoderma Blennorrhagicum" EXACT [] synonym: "Keratoma" EXACT [] synonym: "Keratomas" EXACT [] synonym: "Keratoses" EXACT [] synonym: "Keratosis Blennorrhagica" EXACT [] xref: EFO:1000720 xref: MESH:D007642 xref: NCI:C34747 is_a: DOID:37 ! skin disease [Term] id: DOID:1612 name: breast cancer def: "An organ system cancer that originates in the mammary gland. (DO)" [http://en.wikipedia.org/wiki/Breast_cancer "DO", http://en.wikipedia.org/wiki/Mammary "DO", http://www.cancer.gov/cancertopics/types/breast "DO", http://www.nlm.nih.gov/medlineplus/breastcancer.html "DO", https://www.genome.gov/Genetic-Disorders/Breast-Cancer "DO"] synonym: "BRCATA" EXACT [] synonym: "breast cancer, 11-22 translocation-associated" NARROW [] synonym: "breast cancer, early onset" NARROW [] synonym: "breast cancer, invasive ductal" NARROW [] synonym: "breast cancer, lobular" NARROW [] synonym: "breast cancer, post-chemotherapy poor survival in" RELATED [] synonym: "breast cancer, protection against" RELATED [] synonym: "breast cancer, somatic" RELATED [] synonym: "breast cancer, susceptibility to" RELATED [] synonym: "breast malignant neoplasms" EXACT [] synonym: "breast malignant tumor" EXACT [] synonym: "breast malignant tumors" EXACT [] synonym: "cancer of breast" EXACT [] synonym: "HEREDITARY BREAST CANCER, ABRAXAS1-RELATED" NARROW [] synonym: "malignant neoplasm breast" EXACT [] synonym: "malignant neoplasm of breast" EXACT [] synonym: "malignant neoplasm of female breast" EXACT [] synonym: "malignant tumor of breast" EXACT [] synonym: "malignant tumor of the breast" EXACT [] synonym: "mammary cancer" EXACT [] synonym: "mammary tumor" EXACT [] synonym: "PMS1-RELATED BREAST CANCER" NARROW [] synonym: "PPM1D-RELATED CONDITION" BROAD [] synonym: "primary breast cancer" EXACT [] xref: EFO:0009649 xref: ICD10CM:C50 xref: MIM:114480 xref: MONDO:0007254 xref: NCI:C9335 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9008939 ! Breast Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1614 name: male breast cancer def: "A breast cancer that occurs in males. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24131976 "DO"] synonym: "EFO:0006861" EXACT [] synonym: "malignant neoplasm of male breast" EXACT [] synonym: "neoplasm of male breast" EXACT [SNOMEDCT_2005_07_31:126937006] xref: EFO:0006861 xref: GARD:9312 is_a: DOID:1612 ! breast cancer is_a: DOID:9000357 ! Male Breast Neoplasms [Term] id: DOID:1616 name: benign eccrine breast spiradenoma def: "A breast benign neoplasm that arises_from cutaneous sweat glands and is characterized microscopically by two-cell populations: small, dark, basaloid cells with hyperchromatic nuclei, which are immunoreactive for P63 and calponin, and larger cells with a pale nucleus, often near the center of the cluster (inner cells), which are immunoreactive for CK7 and CD117 (C-kit). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25284865/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26236527/ "DO"] xref: NCI:C5193 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1618 name: breast fibroadenoma def: "A breast benign neoplasm comprised of fibrous and glandoular tissues located_in breast. (DO)" [http://en.wikipedia.org/wiki/Fibroadenoma "DO", http://www.nlm.nih.gov/medlineplus/ency/article/007216.htm "DO"] synonym: "cellular fibroadenoma" EXACT [] synonym: "complex fibroadenoma of breast" EXACT [] synonym: "fibroadenoma of breast" EXACT [] synonym: "juvenile fibroadenoma" EXACT [] synonym: "juvenile fibroadenoma of breast" EXACT [] xref: ICD10CM:D24 xref: NCI:C3744 xref: NCI:C4276 xref: NCI:C5194 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:9006947 ! Fibroadenoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:162 name: cancer def: "A disease of cellular proliferation that is malignant and primary, characterized by uncontrolled cellular proliferation, local cell invasion and metastasis. (DO)" [http://en.wikipedia.org/wiki/cancer "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cancer "DO"] synonym: "cancers" EXACT [] synonym: "childhood cancer" NARROW [] synonym: "malignant neoplasm" EXACT [] synonym: "malignant tumor" EXACT [] synonym: "primary cancer" EXACT [] xref: EFO:0000311 xref: EFO:1000654 xref: ICD10CM:C80.1 xref: ICD9CM:199 xref: ICDO:8000/3 xref: MONDO:0004992 xref: NCI:C9305 is_a: DOID:14566 ! disease of cellular proliferation created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:1623 name: breast leiomyoma def: "A breast benign neoplasm that has_material_basis_in smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/ "DO"] xref: NCI:C40399 xref: RDO:9003367 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1625 name: breast adenoma def: "A breast benign neoplasm that is has_material_basis_in epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/949710 "DO"] synonym: "ademoma - breast" EXACT [] xref: NCI:C40382 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:1626 name: breast duct papilloma def: "An intraductal papillary breast neoplasm that is has_material_basis_in epithelial tissue on papillae of vascularized connective tissue. (DO)" [https://en.wikipedia.org/wiki/Intraductal_papilloma "DO"] synonym: "duct papilloma of breast" EXACT [] synonym: "Intraductal Breast Papilloma" EXACT [] synonym: "papilloma of the breast" EXACT [] xref: EFO:1000306 xref: NCI:C3863 is_a: DOID:1628 ! intraductal papillary breast neoplasm is_a: DOID:2615 ! papilloma [Term] id: DOID:1627 name: intraductal papilloma def: "A small, often impalpable benign papilloma arising in a lactiferous duct and frequently causing bleeding from the nipple. (Stedman, 25th ed)" [MESH:D018300] synonym: "ductal papilloma" EXACT [] synonym: "intraductal papillomas" EXACT [] xref: ICDO:8503/0 xref: MESH:D018300 xref: NCI:C3785 is_a: DOID:2615 ! papilloma is_a: DOID:3013 ! intraductal breast benign neoplasm is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms [Term] id: DOID:1628 name: intraductal papillary breast neoplasm def: "An intraductal breast benign neoplasm that is characterized by fingerlike growth projections. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22336153 "DO"] xref: NCI:C36090 is_a: DOID:3013 ! intraductal breast benign neoplasm [Term] id: DOID:1629 name: breast myofibroblastoma def: "A breast benign neoplasm that derives_from precursor mesenchymal cells with myofibroblastic differentiation. (DO)" [http://www.pathologyoutlines.com/topic/breastmyofibroblastoma.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3199680/ "DO"] xref: NCI:C40397 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1631 name: benign breast phyllodes tumor def: "A breast benign neoplasm that has_material_basis_in epithelial and stromal tissue and derives_from periductal stromal cells of the breast. (DO)" [https://en.wikipedia.org/wiki/Phyllodes_tumor "DO"] synonym: "benign cystosarcoma phyllodes" EXACT [] synonym: "benign phyllodes neoplasm" EXACT [] synonym: "benign phyllodes neoplasm of the breast" EXACT [] synonym: "benign phyllodes tumor" EXACT [] synonym: "cystosarcoma phyllodes" EXACT [] synonym: "phyllodes neoplasm" EXACT [] xref: ICD10CM:D48.6 xref: NCI:C2977 xref: NCI:C4274 xref: NCI:C5196 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:9004240 ! Phyllodes Tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1637 name: breast angiomatosis def: "A breast disease that is characterized by diffuse vascularity surrounding ducts and lobules without invasion, large irregular vascular spaces and flat epithelium without atypia. (DO)" [http://surgpathcriteria.stanford.edu/breast/angiomatosisbr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23488550 "DO"] xref: NCI:C40381 is_a: DOID:1271 ! capillary disease is_a: DOID:3463 ! breast disease is_a: DOID:9004079 ! Angiomatosis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:1638 name: central nervous system tuberculosis def: "An extrapulmonary tuberculosis that results in formation of tuberculomas located_in brain or located_in spinal cord. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"] synonym: "tuberculoma of brain" EXACT [] synonym: "tuberculosis of meninges and central nervous system" EXACT [] synonym: "tuberculous abscess of brain" EXACT [] xref: EFO:0007199 xref: ICD9CM:013.2 xref: MESH:D020306 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:9002742 ! Central Nervous System Bacterial Infections [Term] id: DOID:1639 name: skeletal tuberculosis def: "An extrapulmonary tuberculosis that results in formation of lesions located in bone. (DO)" [http://en.wikipedia.org/wiki/Bone_Tuberculosis "DO"] synonym: "bone tuberculoses" EXACT [] synonym: "Bone Tuberculosis" EXACT [] synonym: "Joint Tuberculoses" EXACT [] synonym: "Joint Tuberculosis" EXACT [] synonym: "osteoarticular tuberculoses" EXACT [] synonym: "osteoarticular tuberculosis" EXACT [] xref: EFO:0007487 xref: ICD10CM:A18.0 xref: ICD9CM:015.9 xref: MESH:D014394 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:9007047 ! Infectious Bone Diseases [Term] id: DOID:1641 name: benign breast adenomyoepithelioma def: "A breast benign neoplasm that is characterized by dual differentiation into luminal cells and myoepithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23627458 "DO"] synonym: "benign adenomyoepithelioma of the breast" EXACT [] xref: NCI:C5144 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:1642 name: breast adenomyoepithelioma def: "A breast myoepithelial neoplasm that affects the breast and is characterized by biphasic proliferation of both epithelial and myoepithelial cells. (DO)" [http://www.ajronline.org/cgi/content/full/180/3/799 "DO"] synonym: "adenomyoepithelioma of the breast" EXACT [] synonym: "breast adenomyoepithelioma with malignant change" EXACT [] synonym: "malignant adenomyoepithelioma of breast" EXACT [] xref: NCI:C5143 xref: NCI:C6899 is_a: DOID:3004 ! breast myoepithelial neoplasm is_a: DOID:9000394 ! Adenomyoepithelioma [Term] id: DOID:1647 name: female breast upper-inner quadrant cancer def: "A female breast cancer that is located_in the upper-inner quadrant of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ "DO"] synonym: "malignant neoplasm of upper-inner quadrant of female breast" EXACT [] xref: ICD9CM:174.2 xref: RDO:9001787 is_a: DOID:0050671 ! female breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:1649 name: female breast lower-inner quadrant cancer def: "A female breast cancer that is located_in the lower-inner quadrant of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ "DO"] synonym: "malignant neoplasm of lower-inner quadrant of female breast" EXACT [] xref: ICD10CM:C50.31 xref: ICD9CM:174.3 xref: RDO:9001788 is_a: DOID:0050671 ! female breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:1650 name: female breast axillary tail cancer def: "A female breast cancer that is located_in the breast tissue extending into the axilla. (DO)" [https://en.wikipedia.org/wiki/Tail_of_Spence "DO", https://www.ncbi.nlm.nih.gov/pubmed/24004816 "DO"] synonym: "malignant neoplasm of axillary tail of female breast" EXACT [] xref: ICD10CM:C50.61 xref: ICD9CM:174.6 xref: RDO:9001789 is_a: DOID:0050671 ! female breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:1657 name: ventricular septal defect def: "A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. (DO)" [http://en.wikipedia.org/wiki/Ventricular_septal_defect "DO", http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/ventricular_septal_defect_vsd.html "DO"] synonym: "congenital ventricular septal defect" EXACT [] synonym: "interventricular septal defect" EXACT [] synonym: "intraventricular septal defect" EXACT [] synonym: "intraventricular septal defects" EXACT [] synonym: "ventricular heart septal defects" EXACT [] synonym: "ventricular septal abnormality" EXACT [] synonym: "ventricular septal defects" EXACT [] xref: GARD:7853 xref: ICD10CM:Q21.0 xref: ICD9CM:745.4 xref: MESH:D006345 xref: MIM:PS614429 xref: NCI:C84506 xref: ORDO:1480 is_a: DOID:1681 ! heart septal defect [Term] id: DOID:1659 name: supratentorial cancer def: "A brain cancer that is located in the supratentorial region. (DO)" [http://en.wikipedia.org/wiki/Tentorium_cerebelli "DO"] synonym: "malignant supratentorial tumor" EXACT [] synonym: "supratentorial brain neoplasm" EXACT [] xref: ICD10CM:C71.0 xref: NCI:C3397 xref: NCI:C4964 is_a: DOID:1319 ! brain cancer is_a: DOID:9006537 ! Supratentorial Neoplasms [Term] id: DOID:166 name: melanotic neuroectodermal tumor def: "A benign, rapidly growing, deeply pigmented tumor of the jaw and occasionally of other sites, consisting of an infiltrating mass of cells arranged in an alveolar pattern, and occurring almost exclusively in infants. Its source of origin is in dispute, the various theories giving rise to its several names. (Dorland, 27th ed)" [MESH:D017600] synonym: "Infantile Melanotic neuroectodermal neoplasm" EXACT [] synonym: "Melanoameloblastoma" EXACT [] synonym: "melanoameloblastomas" EXACT [] synonym: "Melanotic neuroectodermal tumor of infancy" EXACT [] synonym: "Melanotic Neuroectodermal Tumors" EXACT [] synonym: "melanotic neuroectodermal tumour" EXACT [] synonym: "Melanotic neuroectodermal tumour of infancy" EXACT [] synonym: "Melanotic Progonoma" EXACT [] synonym: "Melanotic Progonomas" EXACT [] synonym: "Pigmented neuroectodermal tumour of infancy" EXACT [] synonym: "Retinal Anlage Tumor" EXACT [] synonym: "retinal anlage tumors" EXACT [] xref: EFO:1001038 xref: ICDO:9363/0 xref: MESH:D017600 xref: NCI:C3717 is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:171 ! neuroectodermal tumor [Term] id: DOID:1660 name: malignant pineal area germ cell neoplasm synonym: "malignant pineal parenchymal germ cell tumor" EXACT [] synonym: "pineal germ cell tumor" EXACT [] synonym: "pineal region germ cell tumor" EXACT [] xref: GARD:12017 xref: NCI:C4659 xref: NCI:C6767 is_a: DOID:5032 ! pineal gland cancer [Term] id: DOID:1664 name: pineoblastoma def: "A pineal gland neoplasm located_in the brain. (DO)" [http://en.wikipedia.org/wiki/Pinealoblastoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/28327927 "DO"] synonym: "EFO:1000475" EXACT [] synonym: "pineal PNET" EXACT [] synonym: "pineoblastomas" EXACT [] xref: EFO:1000475 xref: GARD:9369 xref: NCI:C9344 is_a: DOID:5032 ! pineal gland cancer created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:1670 name: Behcet's syndrome arthropathy synonym: "Arthropathy in Behcet's syndrome involving ankle and foot" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving forearm" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving hand" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving lower leg" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving multiple sites" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving pelvic region and thigh" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving shoulder region" EXACT [] synonym: "Arthropathy in Behcet's syndrome involving upper arm" EXACT [] synonym: "Behcet syndrome arthropathy" EXACT [] xref: ICD9CM:711.2 xref: NCI:C35225 xref: RDO:9004006 is_a: DOID:381 ! arthropathy created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:1672 name: spontaneous tension pneumothorax def: "A pneumothorax that is characterized by a pneumothorax in which the pressure of intrapleural gas exceeds atmospheric pressure resulting in acute onset chest pain and shortness of breath. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29961427 "DO"] xref: ICD10CM:J93.0 xref: ICD9CM:512.0 is_a: DOID:1673 ! pneumothorax [Term] id: DOID:1673 name: pneumothorax def: "A pleural disease that is characterized as an abnormal collection of air in the pleural space between the lung and the chest wall. (DO)" [https://en.wikipedia.org/wiki/Pneumothorax "DO", https://medlineplus.gov/ency/article/000087.htm "DO"] synonym: "pressure pneumothorax" EXACT [] synonym: "spontaneous pneumothorax" EXACT [] synonym: "tension pneumothorax" EXACT [] xref: ICD10CM:J93.1 xref: MESH:D011030 xref: MONDO:0002076 is_a: DOID:1532 ! pleural disease [Term] id: DOID:1677 name: low implantation of placenta xref: ICD9CM:641.0 is_a: DOID:11060 ! placenta praevia [Term] id: DOID:1678 name: chronic interstitial cystitis def: "A chronic cystitis characterized by unpleasant sensation related to the bladder and lower urinary tract in the absence of identifiable causes and has_symptom pain, has_symptom pressure, has_symptom discomfort, has_symptom dysuria, and/or has_symptom urinary frequency. (DO)" [https://en.wikipedia.org/wiki/Interstitial_cystitis "DO", https://www.mayoclinic.org/diseases-conditions/interstitial-cystitis/symptoms-causes/syc-20354357 "DO"] xref: EFO:0008507 xref: EFO:1000869 xref: ICD10CM:N30.1 xref: ICD9CM:595.1 is_a: DOID:13949 ! interstitial cystitis is_a: DOID:1680 ! chronic cystitis is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:1679 name: cystitis def: "A bladder disease that is characterized by inflammation of the bladder. (DO)" [https://www.mayoclinic.org/diseases-conditions/cystitis/symptoms-causes/syc-20371306 "DO"] synonym: "Cystitides" EXACT [] xref: EFO:1000025 xref: ICD10CM:N30 xref: ICD9CM:595 xref: MESH:D003556 xref: NCI:C26738 is_a: DOID:365 ! bladder disease [Term] id: DOID:1680 name: chronic cystitis def: "Recurrent infections of the urinary bladder. (NCI)" [] xref: EFO:1000023 xref: ICD10CM:N30.2 xref: ICD9CM:595.2 xref: MONDO:0006030 xref: NCI:C27008 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:1681 name: heart septal defect def: "Abnormalities in any part of the HEART SEPTUM resulting in abnormal communication between the left and the right chambers of the heart. The abnormal blood flow inside the heart may be caused by defects in the ATRIAL SEPTUM, the VENTRICULAR SEPTUM, or both." [MESH:D006343] synonym: "cardiac septal defects" EXACT [] synonym: "congenital heart septal defects" EXACT [] synonym: "congenital septal defect of heart" EXACT [] synonym: "heart septal defects" EXACT [] synonym: "septal defect" EXACT [] xref: ICD10CM:Q21.9 xref: MESH:D006343 xref: MONDO:0002078 xref: NCI:C84482 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:1682 name: congenital heart disease def: "Developmental abnormalities involving structures of the heart. These defects are present at birth but may be discovered later in life." [MESH:D006330] synonym: "congenital anomaly of cardiovascular system" EXACT [] synonym: "congenital anomaly of heart" EXACT [] synonym: "congenital heart defect" EXACT [] synonym: "congenital heart defects" EXACT [] synonym: "Heart Abnormalities" EXACT [] synonym: "Heart Abnormality" EXACT [] synonym: "heart defect" EXACT [] synonym: "heart malformation" EXACT [] synonym: "Heart, Malformation Of" EXACT [] synonym: "isolated nonsyndromic congenital heart disease" NARROW [] synonym: "malformation of the heart" EXACT [] synonym: "malformation of the heart and great vessels" NARROW [] xref: EFO:0005207 xref: EFO:0005269 xref: ICD10CM:Q24.9 xref: ICD9CM:746.9 xref: MESH:D006330 xref: MIM:PS212093 xref: MONDO:0024239 xref: NCI:C34666 xref: NCI:C95834 is_a: DOID:0080015 ! physical disorder is_a: DOID:114 ! heart disease is_a: DOID:9002682 ! Cardiovascular Abnormalities is_a: DOID:9008582 ! Developmental Disease [Term] id: DOID:1686 name: glaucoma def: "An eye disease that is characterized by an unstable or a sustained increase in the intraocular pressure which the eye cannot withstand without damage to its structure or impairment of its function. (DO)" [https://en.wikipedia.org/wiki/Glaucoma "DO", https://www.aao.org/eye-health/diseases/what-is-glaucoma "DO"] synonym: "glaucomas" EXACT [] xref: EFO:0000516 xref: ICD10CM:H40 xref: ICD9CM:365 xref: MESH:D005901 xref: MONDO:0005041 xref: NCI:C26782 is_a: DOID:5614 ! eye disease is_a: DOID:9282 ! ocular hypertension [Term] id: DOID:1687 name: neovascular glaucoma def: "A glaucoma characterized by narrowing of the anterior chamber angle secondary to neovascularization along the iris and iridocorneal angle such that the aqueous fluid outflow is blocked and intraocular pressure becomes inappropriately elevated leading to optic nerve damage and visual field loss. Neovascular glaucoma has_symptom progressive peripheral vision loss, decreased vision, and pain, redness, and headache in acute cases. Neovascular glaucoma can be related to abnormal angiogenesis with ischemic retinal diseases, inflammation, diabetes mellitus, intraocular malignancy, and autoimmune diseases. (DO)" [https://journalretinavitreous.biomedcentral.com/articles/10.1186/s40942-016-0051-x "DO"] synonym: "neovascular glaucomas" EXACT [] synonym: "secondary angle-closure glaucoma with rubeosis" EXACT [] xref: EFO:1001060 xref: MESH:D015355 is_a: DOID:1686 ! glaucoma [Term] id: DOID:169 name: neuroendocrine tumor def: "An endocrine gland cancer that has_material_basis_in neuroendocrine cells. (DO)" [http://en.wikipedia.org/wiki/Neuroendocrine_cell "DO", http://en.wikipedia.org/wiki/Neuroendocrine_tumor "DO", http://www.cancer.gov/dictionary?CdrID=44904 "DO"] synonym: "neuroendocrine neoplasm" EXACT [] synonym: "neuroendocrine tumors" EXACT [] xref: EFO:1001901 xref: ICD10CM:D3A.8 xref: ICD9CM:209-209.99 xref: ICDO:8240/3 xref: MESH:D018358 xref: NCI:C3809 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:171 ! neuroectodermal tumor [Term] id: DOID:1697 name: ichthyosis alt_id: OMIA:002099 def: "A skin disease characterized by drying and scaling of skin with the accumulation of thick scales and cracks that may be painful or bleed. (DO)" [http://purl.obolibrary.org/obo/HP_0008064 "DO", http://www.dermnetnz.org/topics/ichthyosis/ "DO", https://en.wikipedia.org/wiki/Ichthyosis "DO", https://www.ncbi.nlm.nih.gov/books/NBK1420/ "DO"] synonym: "Ichthyoses" EXACT [] synonym: "Ichthyosis, ASPRV1-related" NARROW [] synonym: "non-syndromic ichthyosis" EXACT [] synonym: "xeroderma" EXACT [] synonym: "xerodermas" EXACT [] xref: MESH:D007057 xref: MIM:PS146590 xref: NCI:C84776 xref: ORDO:79354 is_a: DOID:161 ! keratosis is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:17 name: musculoskeletal system disease def: "A disease of anatomical entity that occurs in the muscular and/or skeletal system. (DO)" [http://en.wikipedia.org/wiki/Human_musculoskeletal_system#Diseases_and_disorders "DO"] subset: RGD_JBrowse_slim synonym: "musculoskeletal disease" EXACT [] synonym: "musculoskeletal diseases" EXACT [] synonym: "orthopedic disorder" EXACT [] synonym: "orthopedic disorders" EXACT [] xref: EFO:0009676 xref: MESH:D009140 xref: NCI:C107377 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:170 name: endocrine gland cancer def: "An organ system cancer located_in endocrine system that is characterized by uncontrolled cellular proliferation of the hormone producing glands of the endocrine system. (DO)" [http://en.wikipedia.org/wiki/Endocrine_system "DO"] synonym: "cancer of endocrine gland" EXACT [] synonym: "cancer of the endocrine gland" EXACT [] synonym: "endocrine neoplasm" EXACT [CSP2005:2009-5861] synonym: "Endocrine tumor" EXACT [NCI2004_11_17:C3010] synonym: "malignant Endocrine tumor" EXACT [NCI2004_11_17:C3575] synonym: "malignant neoplasm of endocrine gland" EXACT [] synonym: "malignant tumour of endocrine gland" EXACT [SNOMEDCT_2005_07_31:93780007] synonym: "neoplasm of endocrine gland" EXACT [SNOMEDCT_2005_07_31:127015005] synonym: "neoplasm of endocrine system" EXACT [SNOMEDCT_2005_07_31:387927001] xref: EFO:0003769 xref: ICD10CM:C75.9 xref: ICD9CM:194.9 xref: NCI:C3010 xref: NCI:C3575 xref: RDO:9003305 is_a: DOID:0050686 ! organ system cancer is_a: DOID:28 ! endocrine system disease is_a: DOID:9007803 ! Endocrine Gland Neoplasms created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:1700 name: X-linked ichthyosis alt_id: MIM:308100 def: "An ichthyosis that is characterized by a build-up of scales on the skin, typically on the back of the neck and trunk resulting from skin cells that do not properly separate from the outermost surface of the skin, and has_material_basis_in X-linked recessive mutation or deletion of the STS gene on chromosome Xp22. (DO)" [https://rarediseases.info.nih.gov/diseases/7904/disease "DO", https://www.omim.org/entry/308100 "DO"] synonym: "Placental Steroid Sulfatase Deficiency" NARROW [] synonym: "sex-linked ichthyoses" EXACT [] synonym: "sex-linked ichthyosis" EXACT [] synonym: "SSDD ICHTHYOSIS, X-LINKED, COMPLICATED" NARROW [] synonym: "Steroid Sulfatase Deficiencies" EXACT [] synonym: "Steroid Sulfatase Deficiency" EXACT [] synonym: "steroid sulfatase deficiency disease" NARROW [] synonym: "STS deficiency" EXACT [] synonym: "XLI" EXACT [] synonym: "X-linked ichthyoses" EXACT [] synonym: "X-linked ichthyosis with steryl-sulphatase deficiency" NARROW [] synonym: "X-linked placental steryl-sulphatase deficiency" NARROW [] synonym: "X-linked recessive ichthyosis" EXACT [] xref: EFO:0009080 xref: GARD:7904 xref: ICD10CM:Q80.1 xref: MESH:D016114 xref: NCI:C84779 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:1697 ! ichthyosis is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:1701 name: steroid inherited metabolic disorder def: "A lipid metabolism disorder that involves defects in steroid metabolism. (DO)" [http://en.wikipedia.org/wiki/Inborn_error_of_steroid_metabolism "DO", http://www.genome.jp/dbget-bin/www_bget?pathway+hsa00140 "DO"] synonym: "congenital errors of steroid metabolism" EXACT [] synonym: "Inborn Errors of Steroid Metabolism" EXACT [] synonym: "Steroid Metabolic Diseases, Inborn" EXACT [] synonym: "steroid metabolism, inborn errors" EXACT [] xref: EFO:0005590 xref: MESH:D043202 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:1702 name: ichthyosis vulgaris alt_id: MIM:146700 def: "An ichthyosis that has_material_basis_in heterozygous mutation in the filaggrin gene (FLG) on chromosome 1q21 and is characterized by dead skin cells accumulate in thick, dry scales on your skin's surface. (DO)" [https://www.mayoclinic.org/diseases-conditions/ichthyosis-vulgaris/symptoms-causes/syc-20373754 "DO"] synonym: "autosomal dominant ichthyosis vulgaris" NARROW [] synonym: "dominant congenital ichthyosiform erythroderma" NARROW [] synonym: "dominant ichthyosis vulgaris" NARROW [] synonym: "FLG-RELATED CONDITION" BROAD [] synonym: "FLG-RELATED DISORDERS" BROAD [] synonym: "ichthyosis simplex" EXACT [] synonym: "ichthyosis simplices" EXACT [] xref: GARD:6752 xref: ICD10CM:Q80.0 xref: MESH:D016112 xref: NCI:C84778 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1697 ! ichthyosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:1703 name: Richter's syndrome def: "A rare complication of Chronic Lymphocytic Leukaemia (CLL) and/or Small Lymphocytic Lymphoma (SLL) characterised by the sudden transformation of the CLL/SLL into a significantly more aggressive form of large cell lymphoma.(Leukemia Foundation)" [] synonym: "Richter syndrome" EXACT [] xref: GARD:7578 xref: ICD10CM:C91.1 xref: NCI:C35424 is_a: DOID:1040 ! chronic lymphocytic leukemia is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:171 name: neuroectodermal tumor def: "Malignant neoplasms arising in the neuroectoderm, the portion of the ectoderm of the early embryo that gives rise to the central and peripheral nervous systems, including some glial cells." [MESH:D017599] synonym: "EFO:0005235" EXACT [] synonym: "neuroectodermal tumors" EXACT [] synonym: "primitive neuroectodermal neoplasm" EXACT [] xref: EFO:0005235 xref: MESH:D017599 is_a: DOID:3093 ! nervous system cancer is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms is_a: DOID:9002573 ! Nerve Tissue Neoplasms [Term] id: DOID:1712 name: aortic valve stenosis def: "An aortic valve disease that is characterized by narrowing of the heart's aortic valve opening. (DO)" [http://en.wikipedia.org/wiki/Aortic_valve_stenosis "DO", https://rarediseases.info.nih.gov/diseases/5830/aortic-valve-stenosis "DO"] synonym: "aortic stenoses" EXACT [] synonym: "aortic stenosis" EXACT [] synonym: "aortic valve stenoses" EXACT [] synonym: "AS" EXACT [] synonym: "rheumatic aortic stenosis" EXACT [] synonym: "rheumatic aortic valve stenosis" EXACT [] xref: EFO:0000266 xref: GARD:5830 xref: ICD10CM:I06.0 xref: ICD10CM:Q23.0 xref: ICD9CM:395.0 xref: ICD9CM:746.3 xref: MESH:D001024 xref: NCI:C50462 is_a: DOID:62 ! aortic valve disease is_a: DOID:9004319 ! Ventricular Outflow Obstruction [Term] id: DOID:1713 name: benign shuddering attacks xref: ICD10CM:G25.83 xref: ICD9CM:333.93 is_a: DOID:480 ! movement disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:172 name: clear cell acanthoma synonym: "pale (clear cell) acanthoma" EXACT [] xref: ICDO:8084/0 xref: NCI:C97041 is_a: DOID:174 ! acanthoma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:1724 name: duodenal ulcer def: "A PEPTIC ULCER located in the DUODENUM." [MESH:D004381] synonym: "Curling's ulcer" EXACT [] synonym: "Curling's ulcers" EXACT [] synonym: "Curlings ulcer" EXACT [] synonym: "Curling ulcer" EXACT [] synonym: "duodenal ulcers" EXACT [] synonym: "stress ulcer" EXACT [] xref: EFO:0004607 xref: ICD10CM:K26 xref: ICD9CM:532 xref: MESH:D004381 xref: MONDO:0005412 xref: NCI:C26755 is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:1725 name: peritoneum cancer def: "An organ system cancer that is located in the peritoneum. (DO)" [http://en.wikipedia.org/wiki/Peritoneal_cancer "DO"] synonym: "cancer of peritoneum" EXACT [] xref: ICD10CM:C48.1 xref: ICD9CM:158.8 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9001834 ! Peritoneal Neoplasms created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1726 name: partial of retinal vein occlusion synonym: "Partial Retinal Vein Occlusion" EXACT [NCI2004_11_17:C35341] xref: ICD10CM:H34.82 xref: NCI:C35341 xref: RDO:9002692 is_a: DOID:1727 ! retinal vein occlusion created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1727 name: retinal vein occlusion def: "Blockage of the RETINAL VEIN. Those at high risk for this condition include patients with HYPERTENSION; DIABETES MELLITUS; ATHEROSCLEROSIS; and other CARDIOVASCULAR DISEASES." [MESH:D012170] synonym: "hemi-retinal vein occlusion" RELATED [] synonym: "occlusion of retinal vein" EXACT [] synonym: "retinal vein occlusions" EXACT [] synonym: "retinal vein thromboses" EXACT [] synonym: "retinal vein thrombosis" EXACT [] synonym: "RVO" EXACT [] synonym: "thrombosis of retinal vein" EXACT [] xref: EFO:1001157 xref: MESH:D012170 xref: NCI:C34981 is_a: DOID:1729 ! retinal vascular occlusion is_a: DOID:8483 ! retinal artery occlusion is_a: DOID:9003871 ! Venous Thrombosis [Term] id: DOID:1729 name: retinal vascular occlusion synonym: "Retinal vasc. occlusion" EXACT [] xref: ICD10CM:H34 xref: ICD9CM:362.3 xref: NCI:C34980 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:341 ! peripheral vascular disease created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:173 name: eccrine sweat gland neoplasm synonym: "eccrine skin neoplasm" EXACT [] synonym: "eccrine tumor" EXACT [] xref: NCI:C6796 is_a: DOID:2664 ! sweat gland benign neoplasm [Term] id: DOID:1731 name: histoplasmosis def: "A primary systemic mycosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum or has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and has_symptom nonproductive cough, has_symptom headache, has_symptom loss of appetite and has_symptom muscle pains. (DO)" [http://www.cdc.gov/niosh/hi97146.html "DO"] synonym: "histoplasmoses" EXACT [] xref: EFO:0007310 xref: ICD10CM:B39 xref: ICD9CM:115 xref: MESH:D006660 xref: NCI:C34977 xref: NCI:C77201 is_a: DOID:0050292 ! primary systemic mycosis [Term] id: DOID:1733 name: cryptosporidiosis def: "A coccidiosis that involves a parasitic protozoan infection of the intestine of humans and a wide range of animals caused by Cryptosporidium species, through contaminated water and food, The symptoms include watery diarrhea, dehydration, weight loss, abdominal pain, fever, nausea and vomiting. Cryptosporidium infections have also been found in other digestive tract organs, the lungs, and conjunctiva. Immunocompromised persons are at greater risk of developing the infection. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Cryptosporidiosis.htm "DO"] synonym: "cryptosporidial gastroenteritis" EXACT [] synonym: "Cryptosporidioses" EXACT [] synonym: "infection by Cryptosporidium" EXACT [] synonym: "intestinal cryptosporidiosis" EXACT [] xref: GARD:6219 xref: ICD10CM:A07.2 xref: ICD9CM:007.4 xref: MESH:D003457 xref: NCI:C128408 is_a: DOID:2113 ! coccidiosis is_a: DOID:9002892 ! Parasitic Intestinal Diseases is_a: DOID:9004157 ! Protozoan Infections, Animal [Term] id: DOID:1737 name: duodenal benign neoplasm synonym: "EFO:1000907" EXACT [] synonym: "neoplasm of duodenum" EXACT [] synonym: "neoplasm of the duodenum" EXACT [] xref: EFO:1000907 xref: NCI:C2995 is_a: DOID:7505 ! small intestine benign neoplasm is_a: DOID:9000256 ! Duodenal Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1738 name: small intestine leiomyoma def: "A small intestine benign neoplasm that is located_in the small intestine. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1869141/ "DO"] synonym: "leiomyoma, small bowel" EXACT [] xref: NCI:C7725 is_a: DOID:127 ! leiomyoma is_a: DOID:7505 ! small intestine benign neoplasm created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:174 name: acanthoma def: "A neoplasm composed of squamous or epidermal cells." [] synonym: "Acanthomas" EXACT [] synonym: "Clear Cell Acanthoma" EXACT [] synonym: "Clear Cell Acanthomas" EXACT [] synonym: "Degos Acanthoma" EXACT [] xref: GARD:8604 xref: MESH:D049309 xref: NCI:C7419 is_a: DOID:3168 ! squamous cell neoplasm is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:1742 name: drug psychosis synonym: "Drug-induced psychosis" EXACT [] synonym: "Drug-induced psychotic disorder" EXACT [] synonym: "methamphetamine-induced psychosis" NARROW [] xref: EFO:0005242 xref: EFO:1000902 xref: ICD9CM:292.1 is_a: DOID:1203 ! drug-induced mental disorder created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1748 name: conjunctival squamous cell carcinoma def: "A conjunctival cancer characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that has infiltrated beyond the confines of the epithelial basement membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19883851 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27584160 "DO"] synonym: "conjunctival epidermoid carcinoma" EXACT [] synonym: "EFO:1000206" EXACT [] synonym: "invasive squamous cell carcinoma of the conjunctiva" EXACT [] synonym: "ocular surface squamous neoplasia" EXACT [] synonym: "squamous cell carcinoma of conjunctiva" EXACT [] xref: EFO:1000206 xref: NCI:C4549 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:5467 ! conjunctival cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:1749 name: squamous cell carcinoma def: "A carcinoma that derives_from squamous epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Squamous_cell_carcinoma "DO"] synonym: "EFO:0000707" EXACT [] synonym: "Epidermoid Carcinoma" EXACT [] synonym: "epidermoid carcinomas" EXACT [] synonym: "malignant squamous cell tumor" EXACT [] synonym: "Planocellular Carcinoma" EXACT [] synonym: "planocellular carcinomas" EXACT [] synonym: "Squamous Carcinoma" EXACT [] synonym: "squamous carcinomas" EXACT [] synonym: "squamous cell cancer" EXACT [] synonym: "SQUAMOUS CELL CARCINOMA, BURN SCAR-RELATED, SOMATIC" NARROW [] synonym: "Squamous cell carcinoma of the digit" NARROW [] synonym: "squamous cell carcinomas" EXACT [] synonym: "squamous cell epithelioma" EXACT [] xref: EFO:0000707 xref: EFO:1000597 xref: GARD:1091 xref: ICDO:8070/3 xref: MESH:D002294 xref: MONDO:0005096 xref: NCI:C21609 xref: NCI:C2929 xref: NCI:C60511 xref: OMIA:001787 is_a: DOID:305 ! carcinoma is_a: DOID:3168 ! squamous cell neoplasm [Term] id: DOID:175 name: vascular cancer def: "A cardiovascular cancer that is located_in blood vessels. (DO)" [http://en.wikipedia.org/wiki/Vascular "DO"] synonym: "leiomyosarcoma of the renal vein" EXACT [] synonym: "malignant great vessel tumor" EXACT [] synonym: "malignant tumor of pulmonary artery" NARROW [] synonym: "malignant tumor of pulmonary vein" NARROW [] synonym: "malignant vascular neoplasm" EXACT [] synonym: "malignant vascular tumor" EXACT [] synonym: "pulmonary artery malignant neoplasm" EXACT [] synonym: "pulmonary vein malignant neoplasm" EXACT [] synonym: "renal vein leiomyosarcoma" EXACT [] xref: NCI:C5348 xref: NCI:C5380 xref: NCI:C5383 xref: NCI:C5388 xref: NCI:C7388 xref: NCI:C7390 is_a: DOID:176 ! cardiovascular cancer is_a: DOID:9006948 ! Vascular Tissue Neoplasms [Term] id: DOID:1751 name: malignant conjunctival melanoma synonym: "conjunctival melanoma" EXACT [] synonym: "EFO:1000204" EXACT [] synonym: "malignant melanoma of conjunctiva" EXACT [] xref: EFO:1000204 xref: NCI:C4550 is_a: DOID:5467 ! conjunctival cancer [Term] id: DOID:1752 name: ocular melanoma def: "An ocular cancer that has_material_basis_in melanocytes and is located_in the eye. (DO)" [http://www.cancer.gov/dictionary?CdrID=269467 "DO"] synonym: "EFO:1000403" EXACT [] synonym: "eye melanoma" EXACT [] synonym: "intraocular melanoma" EXACT [] synonym: "melanoma of eye" EXACT [] synonym: "Ocular Melanoma with Extraocular Extension" NARROW [] xref: EFO:1000403 xref: EFO:1000404 xref: GARD:7236 xref: GARD:8621 xref: NCI:C8562 is_a: DOID:1909 ! melanoma is_a: DOID:2174 ! ocular cancer created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:1754 name: mitral valve stenosis def: "A mitral valve disease that is characterized by the narrowing of the orifice of the mitral valve of the heart. (DO)" [http://en.wikipedia.org/wiki/Mitral_valve_stenosis "DO"] synonym: "mitral stenoses" EXACT [] synonym: "mitral stenosis" EXACT [] synonym: "mitral valve stenoses" EXACT [] xref: EFO:0007372 xref: MESH:D008946 xref: NCI:C50654 is_a: DOID:61 ! mitral valve disease [Term] id: DOID:1756 name: facial nerve disease def: "A cranial nerve disease that is located_in the facial nerve (seventh cranial nerve. (DO)" [https://ent.uci.edu/more-at-uc-irvine/conditions/facial-nerve-disorders.asp "DO", MESH:D005155] synonym: "acquired facial neuropathies" EXACT [] synonym: "Acquired Facial Neuropathy" EXACT [] synonym: "cranial nerve VII diseases" EXACT [] synonym: "cranial nerve VII disorders" EXACT [] synonym: "Facial Myokymia" EXACT [] synonym: "Facial Myokymias" EXACT [] synonym: "facial nerve diseases" EXACT [] synonym: "Facial Nerve Disorder" EXACT [] synonym: "Facial Nerve Disorders" EXACT [] synonym: "Facial Nerve Motor Disorders" EXACT [] synonym: "Facial Nerve Sensory Disorders" EXACT [] synonym: "Facial Neuritides" EXACT [] synonym: "Facial Neuritis" EXACT [] synonym: "Facial Neuropathies" EXACT [] synonym: "Facial Neuropathy" EXACT [] synonym: "familial facial neuropathies" EXACT [] synonym: "familial facial neuropathy" EXACT [] synonym: "seventh cranial nerve diseases" EXACT [] xref: EFO:1002051 xref: ICD10CM:G51 xref: ICD9CM:351 xref: MESH:D005155 xref: NCI:C27594 is_a: DOID:403 ! mouth disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:1757 name: facial hemiatrophy alt_id: MIM:141300 def: "A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes." [MESH:D005150] synonym: "facial hemiatrophies" EXACT [] synonym: "Facial Hemiatrophy of Romberg" EXACT [] synonym: "hemifacial atrophies" EXACT [] synonym: "Hemifacial Atrophy" EXACT [] synonym: "Parry Romberg Disease" EXACT [] synonym: "Parry Romberg Syndrome" EXACT [] synonym: "Progressive Facial Hemiatrophies" EXACT [] synonym: "Progressive Facial Hemiatrophy" EXACT [] synonym: "Progressive Hemifacial Atrophies" EXACT [] synonym: "Progressive Hemifacial Atrophy" EXACT [] synonym: "Romberg's disease" EXACT [] synonym: "Romberg Disease" EXACT [] synonym: "Romberg Facial Hemiatrophy" EXACT [] synonym: "Romberg Hemi Facial Atrophy" EXACT [] synonym: "Rombergs disease" EXACT [] xref: MESH:D005150 xref: NCI:C116916 xref: NCI:C84703 is_a: DOID:1756 ! facial nerve disease is_a: DOID:225 ! syndrome is_a: DOID:403 ! mouth disease [Term] id: DOID:1759 name: American histoplasmosis def: "A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/16940867 "DO"] xref: ICD10CM:B39.4 xref: ICD9CM:115.0 xref: RDO:9002329 is_a: DOID:1731 ! histoplasmosis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:176 name: cardiovascular cancer def: "An organ system cancer that located_in the heart and blood vessels. (DO)" [http://www.cancer.gov/dictionary?CdrID=44005 "DO", https://www.ncbi.nlm.nih.gov/books/NBK537144/ "DO"] synonym: "cardiovascular neoplasm" EXACT [CSP2005:2007-0683] synonym: "cardiovascular tumors" EXACT [NCI2004_11_17:C4784] xref: NCI:C4784 is_a: DOID:0050686 ! organ system cancer is_a: DOID:1287 ! cardiovascular system disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1760 name: facial nerve neoplasm synonym: "neoplasm of facial nerve" EXACT [] synonym: "tumor of facial nerve" EXACT [] xref: NCI:C5827 is_a: DOID:3417 ! glossopharyngeal nerve neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:1761 name: Melkersson-Rosenthal syndrome alt_id: MIM:155900 def: "An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)" [MESH:D008556] synonym: "Cheilitis Granulomatosa" EXACT [] synonym: "Cheilitis Granulomatosa, Facial Neuropathy, Orofacial Edema" EXACT [] synonym: "cheilitis granulomatosa of Mescher-Melkersson-Rosenthal" EXACT [] synonym: "Granulomatous Cheilitis" EXACT [] synonym: "Macrocheilia, Facial Palsy, Edema" EXACT [] synonym: "Melkerson Rosenthal Syndrome" EXACT [] synonym: "Melkersson's syndrome" EXACT [] synonym: "Melkersson Rosenthal Miescher Syndrome" EXACT [] synonym: "Melkersson Syndrome" EXACT [] synonym: "Miescher Melkersson Rosenthal Granulomatous Cheilitis" EXACT [] synonym: "MROS" EXACT [] synonym: "MRS" EXACT [] xref: EFO:1001039 xref: GARD:7010 xref: ICD10CM:G51.2 xref: MESH:D008556 xref: NCI:C84886 is_a: DOID:1555 ! urticaria is_a: DOID:1756 ! facial nerve disease is_a: DOID:1762 ! cheilitis is_a: DOID:225 ! syndrome [Term] id: DOID:1762 name: cheilitis def: "A lip disease characterized by the inflammation of the lips; which may include the perioral skin, the vermilion border and the labial mucosa. (DO)" [http://en.wikipedia.org/wiki/Cheilitis "DO"] synonym: "cheilitides" EXACT [] xref: MESH:D002613 xref: NCI:C79545 is_a: DOID:9297 ! lip disease [Term] id: DOID:1766 name: factitious disorder alt_id: MESH:D009110 def: "A disease of mental health where symptoms are deliberately produced, feigned or exaggerated in order to falsely demonstrate the presence of an illness. (DO)" [http://en.wikipedia.org/wiki/Factitious_disorder "DO", http://my.clevelandclinic.org/disorders/factitious_disorders/hic_an_overview_of_factitious_disorders.aspx "DO"] synonym: "factitious disorders" EXACT [] synonym: "Hospital Addiction Syndrome" EXACT [] synonym: "hospital-addiction syndromes" EXACT [] synonym: "Munchausen syndrome" EXACT [] synonym: "Munchhausen Syndrome" EXACT [] synonym: "pseudodementia" EXACT [] synonym: "pseudopsychosis" EXACT [] xref: ICD9CM:300.16 xref: MESH:D005162 is_a: DOID:150 ! disease of mental health [Term] id: DOID:1768 name: conversion disorder def: "A somatoform disorder that involves numbness, blindness, paralysis or fits without a neurological cause. (DO)" [http://en.wikipedia.org/wiki/Conversion_disorder "DO"] synonym: "astasia abasia" EXACT [] synonym: "conversion disorders" EXACT [] synonym: "Conversion Hysteria" EXACT [] synonym: "conversion hysteria or reaction" EXACT [] synonym: "Conversion Hysterias" EXACT [] synonym: "Conversion Hysterical Neurosis" EXACT [] synonym: "Conversion Reaction" EXACT [] synonym: "Conversion Reactions" EXACT [] synonym: "globus hystericus" EXACT [] synonym: "hysterical neurosis, conversion type" EXACT [] xref: GARD:6191 xref: ICD10CM:F44 xref: ICD9CM:300.11 xref: MESH:D003291 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:1770 name: toxic megacolon def: "An acute form of MEGACOLON, severe pathological dilatation of the COLON. It is associated with clinical conditions such as ULCERATIVE COLITIS; CROHN DISEASE; AMEBIC DYSENTERY; or CLOSTRIDIUM ENTEROCOLITIS." [MESH:D008532] xref: ICD10CM:K59.31 xref: MESH:D008532 is_a: DOID:11372 ! megacolon [Term] id: DOID:1776 name: labyrinthine unilateral reactive loss synonym: "unilateral loss of labyrinthine reactivity" EXACT [] xref: ICD9CM:386.55 xref: MONDO:0002106 is_a: DOID:566 ! labyrinthine dysfunction created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:1777 name: unilateral hyperactive labyrinth synonym: "hyperactive unilateral labyrinthine dysfunction" EXACT [] xref: ICD9CM:386.51 is_a: DOID:566 ! labyrinthine dysfunction created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:178 name: vascular disease def: "A cardiovascular system disease that primarily affects the blood vessels which includes the arteries, veins and capillaries that carry blood to and from the heart. (DO)" [http://en.wikipedia.org/wiki/Vascular_disease "DO"] synonym: "ocular vascular disease" NARROW [] synonym: "vascular diseases" EXACT [] synonym: "vascular tissue disease" EXACT [] xref: EFO:0004264 xref: EFO:0005753 xref: ICD10CM:I72.9 xref: ICD9CM:442.9 xref: MESH:D014652 xref: NCI:C26693 xref: NCI:C35117 is_a: DOID:1287 ! cardiovascular system disease [Term] id: DOID:1781 name: thyroid cancer def: "An endocrine gland cancer located in the thyroid gland located in the neck below the thyroid cartilage. (DO)" [http://en.wikipedia.org/wiki/Thyroid_gland "DO", https://pubmed.ncbi.nlm.nih.gov/35288841/ "DO"] synonym: "cancer of the thyroid" EXACT [] synonym: "cancer of thyroid" EXACT [] synonym: "malignant neoplasm of thyroid gland" EXACT [] synonym: "malignant tumour of thyroid gland" EXACT [] synonym: "thyroid cancers" EXACT [] synonym: "thyroid gland cancer" EXACT [] xref: ICD10CM:C73 xref: ICD9CM:193 xref: NCI:C3414 xref: NCI:C7510 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:9004547 ! Thyroid Neoplasms created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:1785 name: pituitary cancer def: "An endocrine gland cancer located_in the pituitary gland located at the base of the brain. (DO)" [http://en.wikipedia.org/wiki/Pituitary_gland "DO"] synonym: "cancer of pituitary" EXACT [] synonym: "cancer of the pituitary" EXACT [] synonym: "malignant pituitary neoplasm" EXACT [] synonym: "malignant tumor of pituitary gland" EXACT [] synonym: "pituitary cancers" EXACT [] synonym: "pituitary gland cancer" EXACT [] xref: EFO:0005578 xref: GARD:9371 xref: ICD10CM:C75.1 xref: NCI:C3330 xref: NCI:C4769 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:9002234 ! Pituitary Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1786 name: adrenal rest tumor def: "Neoplasm derived from displaced cells (rest cells) of the primordial ADRENAL GLANDS, generally in patients with CONGENITAL ADRENAL HYPERPLASIA. Adrenal rest tumors have been identified in TESTES; LIVER; and other tissues. They are dependent on ADRENOCORTICOTROPIN for growth and adrenal steroid secretion." [MESH:D000314] synonym: "adrenal cortical rest tumor" EXACT [] synonym: "adrenal rest neoplasm" EXACT [] synonym: "adrenal rest tumors" EXACT [] xref: EFO:1000798 xref: ICDO:8671/0 xref: MESH:D000314 xref: NCI:C2860 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:1787 name: pericarditis def: "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain. (DO)" [http://en.wikipedia.org/wiki/Pericarditis "DO"] synonym: "pleuropericarditis" EXACT [] xref: EFO:0007427 xref: MESH:D010493 xref: NCI:C34915 is_a: DOID:0050829 ! pericardium disease [Term] id: DOID:1788 name: peritoneal mesothelioma def: "A peritoneum cancer that develops from cells of the mesothelium and is located_in the peritoneum. (DO)" [http://en.wikipedia.org/wiki/Mesothelioma "DO"] synonym: "advanced malignant mesothelioma of peritoneum" EXACT [] synonym: "advanced malignant peritoneal mesothelioma" EXACT [] synonym: "EFO:0005567" EXACT [] synonym: "malignant mesothelioma of peritoneum" EXACT [] synonym: "MALIGNANT PERITONEAL MESOTHELIOMA" EXACT [] synonym: "Peritoneal Multicystic Mesothelioma" NARROW [] synonym: "Peritoneal Well Differentiated Papillary Mesothelioma" NARROW [] xref: EFO:0005567 xref: EFO:1000467 xref: EFO:1000468 xref: EFO:1000469 xref: ICD10CM:C45.1 xref: NCI:C8704 xref: NCI:C9350 is_a: DOID:1725 ! peritoneum cancer is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:9003566 ! Mesothelioma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:1789 name: benign peritoneal mesothelioma synonym: "mesothelioma of peritoneum" EXACT [] xref: NCI:C7633 is_a: DOID:0060117 ! peritoneal benign neoplasm created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:1790 name: malignant mesothelioma def: "A cell type cancer that has_material_basis_in mesothelial tissue that develops from the thin layer of tissue that covers many of the internal organs. (DO)" [http://cancergenome.nih.gov/cancersselected/Mesothelioma "DO", http://www.cancer.gov/dictionary?CdrID=44323 "DO", http://www.merriam-webster.com/medlineplus/mesothelioma "DO", https://en.wikipedia.org/wiki/Mesothelioma "DO"] synonym: "advanced malignant mesothelioma" EXACT [] synonym: "asbestos-related malignant mesothelioma" EXACT [] synonym: "diffuse malignant mesothelioma" EXACT [] synonym: "EFO:1000355" EXACT [] synonym: "malignant tumor of mesothelium" EXACT [] synonym: "MESOM" EXACT [] synonym: "somatic mesothelioma" EXACT [] xref: EFO:1000355 xref: MESH:D000086002 xref: MIM:156240 xref: MONDO:0006292 xref: NCI:C27926 xref: NCI:C4456 xref: NCI:C60453 xref: NCI:C7865 xref: NCI:C8420 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:9003566 ! Mesothelioma is_a: DOID:9005172 ! Lung Neoplasms [Term] id: DOID:1791 name: peritoneal carcinoma def: "A peritoneum cancer that is located_in the inside of the abdomen. (DO)" [https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/peritoneal-cancer.html "DO"] synonym: "primary peritoneal carcinoma" EXACT [] xref: NCI:C40022 xref: ORDO:168829 is_a: DOID:1725 ! peritoneum cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:1792 name: pancreas lymphoma synonym: "lymphoma of pancreas" EXACT [] synonym: "pancreatic lymphoma" EXACT [] xref: NCI:C5714 is_a: DOID:0060058 ! lymphoma is_a: DOID:1793 ! pancreatic cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:1793 name: pancreatic cancer alt_id: MIM:260350 alt_id: MIM:606856 alt_id: MIM:613347 alt_id: MIM:613348 alt_id: MIM:614320 alt_id: MIM:618680 def: "An endocrine gland cancer located_in the pancreas. (DO)" [http://en.wikipedia.org/wiki/Pancreatic "DO"] synonym: "Ca body of pancreas" NARROW [] synonym: "Ca head of pancreas" NARROW [] synonym: "cancer of pancreas" EXACT [] synonym: "cancer of the pancreas" EXACT [] synonym: "Ca tail of pancreas" NARROW [] synonym: "malignant neoplasm of body of pancreas" EXACT [] synonym: "malignant neoplasm of head of pancreas" EXACT [] synonym: "malignant neoplasm of tail of pancreas" EXACT [] synonym: "PALLD-RELATED CONDITION" NARROW [] synonym: "pancreas cancer" EXACT [] synonym: "pancreas cancers" EXACT [] synonym: "pancreatic cancer 3" EXACT [] synonym: "pancreatic cancers" EXACT [] synonym: "pancreatic cancer, susceptibility to, 1" RELATED [] synonym: "pancreatic cancer, susceptibility to, 2" RELATED [] synonym: "pancreatic cancer, susceptibility to, 3" RELATED [] synonym: "pancreatic cancer, susceptibility to, 4" RELATED [] synonym: "pancreatic cancer, susceptibility to, 5" RELATED [] synonym: "pancreatic tumor" EXACT [] synonym: "PNCA1" RELATED [] synonym: "PNCA2" RELATED [] synonym: "PNCA3" RELATED [] synonym: "PNCA4" RELATED [] synonym: "PNCA5" RELATED [] xref: EFO:0003860 xref: EFO:1000359 xref: GARD:9364 xref: ICD10CM:C25.0 xref: ICD10CM:C25.1 xref: ICD10CM:C25.2 xref: ICD9CM:157.0 xref: ICD9CM:157.1 xref: ICD9CM:157.2 xref: ICD9CM:157.8 xref: MESH:D010190 xref: NCI:C3305 xref: ORDO:1333 xref: ORDO:217074 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:9003100 ! Pancreatic Neoplasms [Term] id: DOID:1795 name: malignant exocrine pancreas neoplasm def: "A pancreatic cancer that arises from the epithelial cells of the exocrine pancreatic tissue. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7430 "DO"] synonym: "malignant neoplasm of the exocrine pancreas" EXACT [] synonym: "malignant tumor of exocrine pancreas" EXACT [] synonym: "malignant tumour of exocrine pancreas" EXACT [] synonym: "pancreatic exocrine tumor" EXACT [] synonym: "pancreatic exocrine tumour" EXACT [] synonym: "tumor of exocrine pancreas" EXACT [] synonym: "tumour of exocrine pancreas" EXACT [] xref: NCI:C4445 xref: NCI:C7430 is_a: DOID:1793 ! pancreatic cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:1796 name: pancreas sarcoma def: "A pancreatic cancer that is located_in the pancreas and that arises from transformed cells of mesenchymal origin. (DO)" [https://brief.land/rro/articles/5126.html "DO"] synonym: "sarcoma of pancreas" EXACT [] xref: NCI:C5715 is_a: DOID:1115 ! sarcoma is_a: DOID:1793 ! pancreatic cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:1798 name: pancreatic endocrine carcinoma def: "An islet cell tumor that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "carcinoma of endocrine pancreas" EXACT [] synonym: "EFO:0007416" EXACT [] synonym: "Islet Cell Carcinoma" EXACT [] synonym: "islet cell carcinomas" EXACT [] synonym: "Islet Cell Tumor, Malignant" EXACT [] synonym: "malignant neoplasm of islets of Langerhans" EXACT [] synonym: "METASTATIC PANCREATIC NEUROENDOCRINE TUMORS" NARROW [] synonym: "neuroendocrine tumor of pancreas" NARROW [] synonym: "pancreatic neuroendocrine carcinoma" EXACT [] xref: EFO:0007416 xref: EFO:0009140 xref: GARD:13034 xref: ICD9CM:157.4 xref: MESH:D018273 xref: NCI:C3770 is_a: DOID:1793 ! pancreatic cancer is_a: DOID:1799 ! islet cell tumor is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:1799 name: islet cell tumor def: "A pancreatic cancer that is located_in the pancreatic islet cells. (DO)" [http://en.wikipedia.org/wiki/Islets_of_Langerhans "DO", http://en.wikipedia.org/wiki/Neuroendocrine_tumor "DO"] synonym: "endocrine pancreas cancer" EXACT [] synonym: "islet cell neoplasm" EXACT [] synonym: "islet cell tumour" EXACT [] synonym: "islet of Langerhans tumor" EXACT [] synonym: "malignant pancreatic endocrine tumor" EXACT [] synonym: "malignant pancreatic endocrine tumour" EXACT [] synonym: "malignant tumor of endocrine pancreas" EXACT [] synonym: "malignant tumour of endocrine pancreas" EXACT [] synonym: "metastatic islet cell carcinoma" EXACT [] synonym: "pancreatic endocrine neoplasm" EXACT [] synonym: "pancreatic islet cell tumors" EXACT [] synonym: "pancreatic neuroendocrine tumor" EXACT [] synonym: "PanNET" EXACT [] xref: EFO:0007331 xref: EFO:1000045 xref: ICD10CM:C25.4 xref: ICD10CM:D13.7 xref: NCI:C27031 xref: NCI:C27720 xref: NCI:C34050 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:1793 ! pancreatic cancer is_a: DOID:9003100 ! Pancreatic Neoplasms created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:18 name: urinary system disease def: "A disease of anatomical entity that is located_in kidney, ureter, bladder and urethra. (DO)" [http://en.wikipedia.org/wiki/Urinary_system "DO"] synonym: "ABNORMALITY OF THE URINARY SYSTEM" EXACT [] synonym: "non-neoplastic urinary tract disease" EXACT [] synonym: "urinary tract disease" EXACT [] synonym: "urinary tract diseases" EXACT [] synonym: "urological disease" EXACT [] synonym: "urological diseases" EXACT [] synonym: "urologic disease" EXACT [] synonym: "urologic diseases" EXACT [] xref: EFO:0009690 xref: MESH:D014570 xref: NCI:C27599 is_a: DOID:9009146 ! Urogenital Diseases created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:180 name: ossifying fibroma def: "A bone benign neoplasm that is located_in the mouth and results_in an overgrowth of gingival tissue due to irritation or trauma. (DO)" [http://en.wikipedia.org/wiki/Ossifying_fibroma "DO"] synonym: "fibro-osteoma" EXACT [] synonym: "OSSIFYING FIBROMA OF THE JAW" EXACT [] synonym: "Ossifying Fibromas" EXACT [] synonym: "peripheral ossifying fibroma" RELATED [] xref: EFO:0007412 xref: ICDO:9262/0 xref: MESH:D018214 xref: NCI:C8422 is_a: DOID:0050871 ! fibroma is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:9007603 ! Bone Tissue Neoplasms [Term] id: DOID:1800 name: neuroendocrine carcinoma def: "A carcinoma that derives_from neuroendocrine cells. (DO)" [https://www.mayoclinic.org/diseases-conditions/neuroendocrine-tumors/symptoms-causes/syc-20354132 "DO"] synonym: "neuroendocrine carcinomas" EXACT [] synonym: "Pancreatic Small Cell Neuroendocrine Carcinoma" NARROW [] xref: EFO:1000200 xref: EFO:1000444 xref: ICDO:8246/3 xref: MESH:D018278 xref: NCI:C3773 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:305 ! carcinoma [Term] id: DOID:1802 name: mononeuritis synonym: "mononeuritides" EXACT [] xref: ICD9CM:355.9 is_a: DOID:1188 ! mononeuropathy is_a: DOID:1803 ! neuritis created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:1803 name: neuritis alt_id: RDO:0006205 def: "A general term indicating inflammation of a peripheral or cranial nerve. Clinical manifestation may include PAIN; PARESTHESIAS; PARESIS; or HYPESTHESIA." [MESH:D009443] synonym: "neuritides" EXACT [] synonym: "Peripheral Neuritides" EXACT [] synonym: "Peripheral Neuritis" EXACT [] synonym: "Polyneuritides" EXACT [] synonym: "Polyneuritis" EXACT [] synonym: "Sensory Neuritides" EXACT [] synonym: "sensory neuritis" EXACT [] xref: MESH:D009443 xref: NCI:C116381 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:870 ! neuropathy is_a: DOID:9005372 ! Inflammation [Term] id: DOID:1811 name: reflex sympathetic dystrophy alt_id: MIM:604335 alt_id: RDO:0006467 def: "A syndrome characterized by severe burning pain in an extremity accompanied by sudomotor, vasomotor, and trophic changes in bone without an associated specific nerve injury. This condition is most often precipitated by trauma to soft tissue or nerve complexes. The skin over the affected region is usually erythematous and demonstrates hypersensitivity to tactile stimuli and erythema. (Adams et al., Principles of Neurology, 6th ed, p1360; Pain 1995 Oct;63(1):127-33)" [MESH:D012019] synonym: "algodystrophic syndrome" EXACT [] synonym: "Algodystrophies" EXACT [] synonym: "Algodystrophy" EXACT [] synonym: "Cervical Sympathetic Dystrophies" EXACT [] synonym: "Cervical Sympathetic Dystrophy" EXACT [] synonym: "CPRS Type I" EXACT [] synonym: "CPRS Type Is" EXACT [] synonym: "Reflex Sympathetic Dystrophies" EXACT [] synonym: "Reflex Sympathetic Dystrophy Syndrome" EXACT [] synonym: "RSD (Reflex Sympathetic Dystrophy)" EXACT [] synonym: "RSDs (Reflex Sympathetic Dystrophy)" EXACT [] synonym: "Shoulder Hand Syndrome" EXACT [] synonym: "Shoulder-Hand Syndromes" EXACT [] synonym: "Sudek's Atrophies" EXACT [] synonym: "Sudek's Atrophy" EXACT [] synonym: "Sudek Atrophy" EXACT [] synonym: "Sudeks Atrophy" EXACT [] synonym: "Sympathetic Reflex Dystrophia" EXACT [] synonym: "Sympathetic Reflex Dystrophias" EXACT [] synonym: "type I complex regional pain syndrome" EXACT [] xref: EFO:1001147 xref: ICD10CM:G90.5 xref: ICD9CM:337.2 xref: MESH:D012019 xref: NCI:C85042 is_a: DOID:3223 ! complex regional pain syndrome [Term] id: DOID:182 name: calcinosis def: "A calcium metabolism disease that is the result of the formation of calcium deposits in any soft tissue. (DO)" [http://en.wikipedia.org/wiki/Calcinosis "DO"] synonym: "calcinoses" EXACT [] synonym: "Microcalcification" EXACT [] synonym: "Microcalcifications" EXACT [] synonym: "Microcalcinoses" EXACT [] synonym: "Microcalcinosis" EXACT [] synonym: "pathologically calcified structure" EXACT [] synonym: "Pathologic Calcification" EXACT [] synonym: "Tumoral Calcinoses" EXACT [] synonym: "tumoral calcinosis" EXACT [] xref: EFO:0003837 xref: MESH:D002114 xref: NCI:C3672 is_a: DOID:10575 ! calcium metabolism disease [Term] id: DOID:1822 name: secondary lacrimal atrophy xref: ICD10CM:H04.15 xref: ICD9CM:375.14 is_a: DOID:1400 ! lacrimal apparatus disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:1824 name: status epilepticus def: "A prolonged seizure or seizures repeated frequently enough to prevent recovery between episodes occurring over a period of 20-30 minutes. The most common subtype is generalized tonic-clonic status epilepticus, a potentially fatal condition associated with neuronal injury and respiratory and metabolic dysfunction. Nonconvulsive forms include petit mal status and complex partial status, which may manifest as behavioral disturbances. Simple partial status epilepticus consists of persistent motor, sensory, or autonomic seizures that do not impair cognition (see also EPILEPSIA PARTIALIS CONTINUA). Subclinical status epilepticus generally refers to seizures occurring in an unresponsive or comatose individual in the absence of overt signs of seizure activity. (From N Engl J Med 1998 Apr 2;338(14):970-6; Neurologia 1997 Dec;12 Suppl 6:25-30)" [MESH:D013226] synonym: "absence status" EXACT [] synonym: "Complex Partial Status Epilepticus" EXACT [] synonym: "Electrographic Status Epilepticus" EXACT [] synonym: "Generalized Convulsive Status Epilepticus" EXACT [] synonym: "Generalized Status Epilepticus" EXACT [] synonym: "grand mal status" EXACT [] synonym: "Grand Mal Status Epilepticus" EXACT [] synonym: "Non Convulsive Status Epilepticus" EXACT [] synonym: "Petit Mal Status" EXACT [] synonym: "Simple Partial Status Epilepticus" EXACT [] synonym: "subclinical status epilepticus" EXACT [] xref: EFO:0008526 xref: GARD:10191 xref: MESH:D013226 xref: NCI:C85079 is_a: DOID:1826 ! epilepsy [Term] id: DOID:1825 name: childhood absence epilepsy alt_id: MESH:C567002 def: "A childhood electroclinical syndrome that is characterized by brief and frequent absence seizures in children with age of onset between four and ten years. (DO)" [http://en.wikipedia.org/wiki/Childhood_absence_epilepsy "DO"] synonym: "akinetic petit mal" EXACT [] synonym: "Atonic Absence Seizure" EXACT [] synonym: "atonic absence seizures" EXACT [] synonym: "atypical absence epilepsy" EXACT [] synonym: "CACNA1H-RELATED DISORDER" BROAD [] synonym: "childhood absence epilepsies" EXACT [] synonym: "Epilepsy, Childhood Absence, Susceptibility To, 4" RELATED [] synonym: "minor epilepsies" EXACT [] synonym: "Minor Epilepsy" EXACT [] synonym: "petit mal convulsion" EXACT [] synonym: "petit mal epilepsies" EXACT [] synonym: "petit mal epilepsy" EXACT [] synonym: "petit mal seizure" EXACT [] synonym: "pykno-epilepsies" EXACT [] synonym: "pykno epilepsy" EXACT [] synonym: "pyknolepsies" EXACT [] synonym: "pyknolepsy" EXACT [] xref: MESH:D004832 xref: MIM:PS600131 xref: MONDO:0010826 xref: NCI:C128189 xref: NCI:C3023 is_a: DOID:0050704 ! childhood electroclinical syndrome is_a: DOID:9001793 ! Generalized Epilepsy [Term] id: DOID:1826 name: epilepsy alt_id: MESH:D000080485 alt_id: OMIA:001596 def: "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. (DO)" [http://books.google.com/books?id=YXqX04Te9ioC&printsec=frontcover&source=gbs_ge_summary_r&cad=0#v=onepage&q&f=false "DO", http://www.merriam-webster.com/medlineplus/epilepsy "DO"] synonym: "aura" EXACT [] synonym: "auras" EXACT [] synonym: "awakening epilepsy" EXACT [] synonym: "benign familial juvenile epilepsy" NARROW [] synonym: "CHILDHOOD-ONSET EPILEPSY SYNDROME" NARROW [] synonym: "convulsions" EXACT [] synonym: "cryptogenic epilepsies" EXACT [] synonym: "cryptogenic epilepsy" EXACT [] synonym: "epilepsies" EXACT [] synonym: "EPILEPSY, MITOCHONDRIAL" NARROW [] synonym: "epilepsy syndrome" EXACT [] synonym: "epileptic seizure" EXACT [] synonym: "epileptic seizures" EXACT [] synonym: "epileptic syndrome" EXACT [] synonym: "INFANTILE EPILEPSY" NARROW [] synonym: "INTRACTABLE SEIZURE" NARROW [] synonym: "RARE EPILEPSY" NARROW [] synonym: "rare genetic epilepsy" NARROW [] synonym: "seizure" EXACT [] synonym: "seizure disorder" EXACT [] synonym: "seizure disorders" EXACT [] synonym: "seizures" EXACT [] synonym: "single seizure" EXACT [] synonym: "single seizures" EXACT [] synonym: "sudden unexpected death in epilepsy" RELATED [] xref: EFO:0000474 xref: EFO:0009854 xref: ICD10CM:G40 xref: ICD9CM:345.9 xref: MESH:D004827 xref: MIM:PS617290 xref: NCI:C3020 is_a: DOID:936 ! brain disease [Term] id: DOID:1827 name: idiopathic generalized epilepsy alt_id: MIM:600669 def: "An epilepsy syndrome that is characterized by generalised seizures with no apparent cause which arise from many independent foci (multifocal epilepsies) or from epileptic circuits that involve the whole brain. (DO)" [http://en.wikipedia.org/wiki/Epilepsy "DO", http://en.wikipedia.org/wiki/Generalized_epilepsy "DO"] synonym: "EIG" EXACT [] synonym: "EIG1" NARROW [] synonym: "EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 10" EXACT [] synonym: "generalised epilepsy" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 1" RELATED [] synonym: "IGE EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 1" RELATED [] xref: EFO:0005917 xref: MESH:C562694 xref: MIM:PS600669 xref: NCI:C3021 is_a: DOID:9001793 ! Generalized Epilepsy [Term] id: DOID:1829 name: urethral stricture def: "Narrowing of any part of the URETHRA. It is characterized by decreased urinary stream and often other obstructive voiding symptoms." [MESH:D014525] synonym: "Anterior Urethral Stricture" EXACT [] synonym: "anterior urethral strictures" EXACT [] synonym: "Posterior Urethral Stricture" EXACT [] synonym: "posterior urethral strictures" EXACT [] synonym: "Urethral Stenoses" EXACT [] synonym: "urethral stenosis" EXACT [] synonym: "urethral strictures" EXACT [] xref: ICD9CM:598.8 xref: MESH:D014525 xref: MONDO:0002127 is_a: DOID:12577 ! urethral obstruction [Term] id: DOID:1835 name: mononeuritis multiplex synonym: "mononeuropathy multiplex" EXACT [] synonym: "multifocal neuropathy" EXACT [] xref: GARD:7056 xref: ICD10CM:G58.7 xref: ICD9CM:354.5 xref: NCI:C70938 is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:1837 name: diabetic ketoacidosis alt_id: MIM:612227 def: "A metabolic acidosis that is characterized by the shift of acid-base status of the body toward the acid side accompanied by the accumulation of ketone bodies in body tissues and fluids, resulting from uncontrolled diabetes mellitus. (DO)" [https://medlineplus.gov/ency/article/000320.htm "DO", https://www.mayoclinic.org/diseases-conditions/diabetic-ketoacidosis/symptoms-causes/syc-20371551 "DO"] synonym: "DIABETES MELLITUS, KETOSIS-PRONE, SUSCEPTIBILITY TO" RELATED [] synonym: "diabetic acidoses" EXACT [] synonym: "Diabetic Acidosis" EXACT [] synonym: "diabetic ketoacidoses" EXACT [] synonym: "diabetic ketoses" EXACT [] synonym: "diabetic ketosis" EXACT [] synonym: "ketosis-prone diabetes mellitus" EXACT [] synonym: "KPD" EXACT [] xref: EFO:1000897 xref: ICD9CM:250.1 xref: MESH:D016883 xref: NCI:C50530 is_a: DOID:0050758 ! metabolic acidosis is_a: DOID:9002661 ! Diabetes Complications is_a: DOID:9006253 ! Ketosis [Term] id: DOID:1838 name: Menkes disease alt_id: MIM:309400 alt_id: OMIA:000640 def: "An inherited disorder of copper metabolism transmitted as an X-linked trait and characterized by the infantile onset of HYPOTHERMIA, feeding difficulties, hypotonia, SEIZURES, bony deformities, pili torti (twisted hair), and severely impaired intellectual development. Defective copper transport across plasma and endoplasmic reticulum membranes results in copper being unavailable for the synthesis of several copper containing enzymes, including PROTEIN-LYSINE 6-OXIDASE; CERULOPLASMIN; and SUPEROXIDE DISMUTASE. Pathologic changes include defects in arterial elastin, neuronal loss, and gliosis. (From Menkes, Textbook of Child Neurology, 5th ed, p125)" [MESH:D007706] synonym: "congenital hypocupremia" EXACT [] synonym: "congenital hypocupremias" EXACT [] synonym: "copper transport disease" EXACT [] synonym: "kinky hair disease" EXACT [] synonym: "kinky hair diseases" EXACT [] synonym: "Kinky Hair Syndrome" EXACT [] synonym: "Menkes' diseases" EXACT [] synonym: "MENKES DISEASE, COPPER-REPLACEMENT RESPONSIVE" NARROW [] synonym: "MENKES DISEASE, MILD" NARROW [] synonym: "Menkes kinky hair syndrome" EXACT [] synonym: "Menkes syndrome" EXACT [] synonym: "MK" EXACT [] synonym: "MNK" EXACT [] synonym: "steely hair disease" EXACT [] synonym: "steely hair diseases" EXACT [] synonym: "steely hair syndrome" EXACT [] synonym: "steely hair syndromes" EXACT [] synonym: "X-linked copper deficiency" EXACT [] xref: GARD:1521 xref: MESH:D007706 xref: NCI:C75486 xref: ORDO:565 is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:896 ! metal metabolism disorder is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:184 name: bone cancer def: "A connective tissue cancer that is located_in bone and is characterized by uncontrolled cellular proliferation that destroys normal bone tissue. (DO)" [http://www.cancer.gov/cancertopics/factsheet/Sites-Types/bone "DO", http://www.cancer.gov/cancertopics/types/bone "DO"] synonym: "bone cancers" EXACT [] synonym: "CA - bone cancer" EXACT [] synonym: "cancer of bone" EXACT [] synonym: "cancer of the bone" EXACT [] synonym: "malignant bone neoplasm" EXACT [] synonym: "malignant bone tumour" EXACT [] synonym: "malignant neoplasm of bone" EXACT [] synonym: "malignant osseous tumor" EXACT [] xref: EFO:0003820 xref: EFO:1000350 xref: NCI:C9343 is_a: DOID:201 ! connective tissue cancer is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:1844 name: mononeuritis of upper limb synonym: "upper limb mononeuritis" EXACT [] xref: ICD9CM:354.9 is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex [Term] id: DOID:1849 name: cannabis dependence def: "A drug dependence that involves the continued use of cannabis despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Cannabis_dependence "DO"] synonym: "marijuana dependence" EXACT [] xref: EFO:0004218 xref: EFO:0007191 xref: ICD10CM:F12.2 xref: ICD9CM:304.3 xref: NCI:C34445 xref: RDO:9002647 is_a: DOID:9977 ! hallucinogen dependence created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:1852 name: intrahepatic cholestasis def: "A cholestasis characterized by impairment of the bile flow caused by obstruction located_in liver. (DO)" [https://medlineplus.gov/ency/article/000215.htm "DO"] synonym: "ATP8B1-related" BROAD [] synonym: "familial intrahepatic cholestasis" NARROW [] synonym: "intrahepatic bile duct obstruction" EXACT [] synonym: "Intrahepatic Biliary Stases" EXACT [] synonym: "Intrahepatic Biliary Stasis" EXACT [] synonym: "intrahepatic cholestases" EXACT [] synonym: "neonatal intrahepatic cholestasis" EXACT [] synonym: "progressive intrahepatic cholestasis" NARROW [] xref: GARD:10214 xref: MESH:D002780 xref: NCI:C84400 xref: ORDO:284385 is_a: DOID:13580 ! cholestasis is_a: DOID:409 ! liver disease [Term] id: DOID:1856 name: cherubism def: "A bone disease characterized by replacement of bone in the jaws with fibrous tissue leding to facial swelling that has_material_basis_in heterozygous mutation in the SH3BP2 gene on chromosome 4p16.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10364528 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11381256 "DO"] synonym: "CRBM" EXACT [] synonym: "familial benign giant-cell tumor of the jaw" EXACT [] synonym: "familial fibrous dysplasia of jaw" EXACT [] synonym: "familial multilocular cystic disease of the jaws" EXACT [] synonym: "fibrous dysplasia of jaw" EXACT [] xref: EFO:0004150 xref: GARD:6036 xref: MESH:D002636 xref: MIM:118400 xref: MONDO:0007315 xref: NCI:C84630 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9003876 ! Jaw Diseases is_a: DOID:9004563 ! Maxillofacial Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9008267 ! Fibrous Dysplasia of Bone [Term] id: DOID:1858 name: McCune Albright syndrome alt_id: MIM:174800 def: "A syndrome that is characterized by polyostotic fibrous dysplasia, precocious puberty, and café-au-lait spots and has_material_basis_in spontaneous post zygotic missense mutation at ARG201 or Gln227 of the GNAS gene during embryogenesis. (DO)" [http://en.wikipedia.org/wiki/McCune%E2%80%93Albright_syndrome "DO", http://ghr.nlm.nih.gov/condition/mccune-albright-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK537092/ "DO"] synonym: "Albright's disease" EXACT [] synonym: "Albright's disease of bone" EXACT [] synonym: "Albright's syndrome" EXACT [] synonym: "Albright's syndrome with precocious puberty" EXACT [] synonym: "Albright-Mccune-Sternberg syndrome" EXACT [] synonym: "Albright-Sternberg syndrome" EXACT [] synonym: "Albright syndrome" EXACT [] synonym: "fibrous dysplasia of bone" EXACT [] synonym: "fibrous dysplasia with pigmentary skin changes and precocious puberty" EXACT [] synonym: "MAS" EXACT [] synonym: "osteitis fibrosa disseminata" EXACT [] synonym: "PFD" NARROW [] synonym: "POFD" NARROW [] synonym: "polyostotic fibrous dysplasia" EXACT [] synonym: "polyostotic fibrous dysplasias" EXACT [] xref: GARD:6995 xref: ICD10CM:Q78.1 xref: ICD9CM:756.54 xref: MESH:D005359 xref: NCI:C34610 xref: NCI:C48627 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:225 ! syndrome is_a: DOID:9008267 ! Fibrous Dysplasia of Bone created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:1862 name: jaw cancer def: "A bone cancer and jaw disease that is located in the jaw and results in a swollen jaw, results in numbness or a tingling sensation in jaw, and results in an abnormal growth of the jaw bone. (DO)" [https://www.mayoclinic.org/diseases-conditions/jaw-tumors-cysts/symptoms-causes/syc-20350973 "DO"] synonym: "cancer of jaw" EXACT [] synonym: "cancer of the jaw" EXACT [] synonym: "jaw cancers" EXACT [] xref: EFO:0007333 is_a: DOID:184 ! bone cancer is_a: DOID:9004594 ! Jaw Neoplasms [Term] id: DOID:1863 name: skull cancer xref: NCI:C3375 is_a: DOID:184 ! bone cancer is_a: DOID:9001331 ! Skull Neoplasms [Term] id: DOID:1866 name: giant cell reparative granuloma synonym: "central giant cell granuloma" EXACT [] synonym: "central giant cell reparative granuloma" EXACT [] synonym: "central giant cell reparative granuloma of jaw" EXACT [] synonym: "EFO:1000950" EXACT [] xref: EFO:1000950 xref: ICD10CM:M27.1 xref: ICD9CM:526.3 xref: NCI:C173930 is_a: DOID:4305 ! bone giant cell tumor is_a: DOID:9000640 ! Giant Cell Granuloma [Term] id: DOID:1869 name: chronic rheumatic pericarditis xref: ICD10CM:I09.2 xref: ICD9CM:393 is_a: DOID:1575 ! rheumatic disease is_a: DOID:1787 ! pericarditis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:1875 name: impotence def: "A sexual dysfunction that is characterized by persistent or recurrent inability to achieve or to maintain an erection during sexual activity. (DO)" [https://www.mayoclinic.org/diseases-conditions/erectile-dysfunction/symptoms-causes/syc-20355776 "DO"] synonym: "erectile dysfunction" EXACT [] synonym: "male impotence" EXACT [] synonym: "male sexual impotence" EXACT [] synonym: "sexual impotence" EXACT [] xref: EFO:0004234 xref: MESH:D007172 xref: NCI:C3133 is_a: DOID:1876 ! sexual dysfunction [Term] id: DOID:1876 name: sexual dysfunction def: "A male reproductive system disease that is characterized by disturbances in sexual desire or performance. (DO)" [https://my.clevelandclinic.org/health/diseases/9121-sexual-dysfunction "DO"] synonym: "antidepressant-induced sexual dysfunction" NARROW [] synonym: "Physiological Sexual Disorder" EXACT [] synonym: "physiological sexual disorders" EXACT [] synonym: "physiological sexual dysfunction" EXACT [] synonym: "physiological sexual dysfunctions" EXACT [] synonym: "sex disorders" EXACT [] xref: EFO:0004714 xref: EFO:0006322 xref: ICD10CM:F52.9 xref: ICD10CM:R37 xref: MESH:D012735 xref: NCI:C3347 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:1882 name: atrial heart septal defect def: "A heart septal defect located_in in the septum that separates the two atria of the heart. (DO)" [https://en.wikipedia.org/wiki/Atrial_septal_defect "DO"] synonym: "Atrial Septal Defect" EXACT [] synonym: "atrial septal defects" EXACT [] synonym: "atrioseptal defect" EXACT [] synonym: "auricular septal defect" EXACT [] synonym: "congenital atrial septal defect" EXACT [] synonym: "interatrial septal defect" EXACT [] synonym: "interauricular septal defect" EXACT [] synonym: "Ostium Secundum Atrial Septal Defect" EXACT [] synonym: "persistent ostium primum" EXACT [] xref: EFO:1000825 xref: ICD10CM:Q21.1 xref: MESH:D006344 xref: MIM:PS108800 xref: NCI:C84473 xref: ORDO:1478 is_a: DOID:1681 ! heart septal defect [Term] id: DOID:1883 name: hepatitis C alt_id: MIM:609532 def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepacivirus hominis, which is transmitted_by blood from an infected person enters the body of an uninfected person. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom joint pain, and has_symptom jaundice. (DO)" [http://www.cdc.gov/hepatitis/HCV/index.htm "DO", http://www.cdc.gov/hepatitis/hcv/pdfs/hepcgeneralfactsheet.pdf "DO", http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf "DO"] synonym: "chronic hepatitis C" EXACT [] synonym: "HCV, resistance to" NARROW [] synonym: "HCV, SUSCEPTIBILITY TO HEPATITIS C VIRUS, RESISTANCE TO" NARROW [] synonym: "hepatitis C infection" EXACT [] synonym: "HEPATITIS C VIRUS INFECTION, RESPONSE TO THERAPY OF" NARROW [] synonym: "hepatitis C virus, susceptibility to" NARROW [] synonym: "hepatitis nonA nonB" EXACT [] synonym: "NANBH" EXACT [] synonym: "parenterally transmitted non A, non B hepatitis" EXACT [] synonym: "parenterally-transmitted viral hepatitis, non-A, non-B" EXACT [] synonym: "PT-NANBH" EXACT [] synonym: "viral hepatitis C" EXACT [] xref: EFO:0003047 xref: ICD10CM:B19.20 xref: ICD9CM:070.7 xref: MESH:D006526 xref: NCI:C3098 is_a: DOID:9007329 ! Human Viral Hepatitis is_a: DOID:9008551 ! Flaviviridae Infections [Term] id: DOID:1884 name: viral hepatitis def: "A hepatitis that involves viral infection causing inflammation of the liver. (DO)" [http://www.cdc.gov/HEPATITIS/ "DO"] synonym: "HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO" RELATED [] synonym: "viral hepatitis with hepatic coma" EXACT [] xref: EFO:0004196 xref: EFO:0007540 is_a: DOID:2237 ! hepatitis is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:1891 name: optic nerve disease def: "A cranial nerve disease that is located_in the optic nerve. (DO)" [http://www.academy.org.uk/lectures/barnard3.htm "DO", http://www.nature.com/eye/journal/v18/n11/full/6701575a.html "DO"] synonym: "cranial nerve II diseases" EXACT [] synonym: "cranial nerve II disorder" EXACT [] synonym: "disorder of the second nerve" EXACT [] synonym: "Neural Optical Lesion" EXACT [] synonym: "neural-optical lesions" EXACT [] synonym: "Optic Disk Disorder" EXACT [] synonym: "Optic Disk Disorders" EXACT [] synonym: "optic nerve diseases" EXACT [] synonym: "optic nerve disorder" EXACT [] synonym: "optic neuropathies" EXACT [] synonym: "optic neuropathy" EXACT [] synonym: "second cranial nerve diseases" EXACT [] xref: MESH:D009901 xref: NCI:C79698 is_a: DOID:5614 ! eye disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:1893 name: eczematous dermatitis of eyelid xref: ICD10CM:H01.13 xref: ICD9CM:373.31 xref: RDO:9003500 is_a: DOID:1894 ! noninfectious dermatoses of eyelid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1894 name: noninfectious dermatoses of eyelid synonym: "non-infected eyelid dermatoses" EXACT [] xref: ICD10CM:H01.1 xref: ICD9CM:373.3 is_a: DOID:37 ! skin disease is_a: DOID:9423 ! blepharitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1895 name: allergic contact dermatitis of eyelid def: "A noninfectious dermatoses of eyelid that is characterized by eczema, pruritis, or erythematous vesicles or papules of the eyelids, and has_material_basis_in a type IV hypersenstivity reaction to an allergen or irritant. (DO)" [https://en.wikipedia.org/wiki/Allergic_contact_dermatitis "DO"] synonym: "contact and allergic dermatitis of eyelid" EXACT [] xref: ICD9CM:373.32 is_a: DOID:1894 ! noninfectious dermatoses of eyelid is_a: DOID:3042 ! allergic contact dermatitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:1896 name: sigmoid neoplasm def: "Tumors or cancer of the SIGMOID COLON." [] synonym: "cancer of sigmoid" EXACT [] synonym: "cancer of the sigmoid" EXACT [] synonym: "EFO:1001181" EXACT [] synonym: "neoplasm of sigmoid colon" EXACT [] synonym: "Sigmoidal Cancer" EXACT [] synonym: "Sigmoid Cancer" EXACT [] synonym: "sigmoid colon cancer" EXACT [] synonym: "sigmoid colon neoplasm" EXACT [] synonym: "sigmoid colon neoplasms" EXACT [] synonym: "sigmoid colon tumor" EXACT [] synonym: "sigmoid neoplasms" EXACT [] synonym: "tumor of sigmoid colon" EXACT [] xref: EFO:1001181 xref: MESH:D012811 is_a: DOID:1897 ! sigmoid disease is_a: DOID:235 ! colonic benign neoplasm [Term] id: DOID:1897 name: sigmoid disease def: "Pathological processes in the SIGMOID COLON region of the large intestine (INTESTINE, LARGE)." [MESH:D012810] synonym: "Sigmoid Colon Disease" EXACT [] synonym: "Sigmoid Colon Diseases" EXACT [] synonym: "sigmoid diseases" EXACT [] xref: MESH:D012810 is_a: DOID:5353 ! colonic disease [Term] id: DOID:1901 name: vagina sarcoma def: "A vaginal cancer that has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21816677 "DO"] synonym: "sarcoma of the vagina" EXACT [] xref: NCI:C7737 is_a: DOID:1115 ! sarcoma is_a: DOID:119 ! vaginal cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:1906 name: malignant skin fibrous histiocytoma synonym: "cutaneous malignant fibrous histiocytoma" EXACT [] synonym: "cutaneous unclassified pleomorphic sarcoma" EXACT [] synonym: "cutaneous undifferentiated pleomorphic sarcoma" EXACT [] synonym: "EFO:1000212" EXACT [] synonym: "malignant fibrous histiocytoma of skin" EXACT [] xref: EFO:1000212 xref: NCI:C27394 xref: NCI:C5576 is_a: DOID:1907 ! malignant fibrous histiocytoma is_a: DOID:5274 ! malignant dermis tumor created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:1907 name: malignant fibrous histiocytoma def: "The most commonly diagnosed soft tissue sarcoma. It is a neoplasm with a fibrohistiocytic appearance found chiefly in later adult life, with peak incidence in the 7th decade." [MESH:D051677] synonym: "EFO:1001972" EXACT [] synonym: "Fibroxanthosarcoma" EXACT [] synonym: "malignant fibrohistiocytic tumor" EXACT [] synonym: "malignant fibrohistiocytic tumors" EXACT [] synonym: "malignant fibrous histiocytomas" EXACT [] synonym: "malignant fibroxanthoma" EXACT [] synonym: "MFH" EXACT [] synonym: "pleomorphic malignant fibrous histiocytoma" EXACT [] synonym: "undifferentiated pleomorphic sarcoma" EXACT [] xref: EFO:1001972 xref: ICDO:8830/3 xref: MESH:D051677 xref: NCI:C4247 xref: NCI:C60442 is_a: DOID:1115 ! sarcoma is_a: DOID:4231 ! histiocytoma is_a: DOID:9006050 ! undifferentiated sarcoma [Term] id: DOID:1909 name: melanoma def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes which are found in skin, the bowel and the eye. (DO)" [http://en.wikipedia.org/wiki/Melanoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/22123420 "DO"] synonym: "albumin B" RELATED [] synonym: "Albumin Nagano" RELATED [] synonym: "Albumin Oliphant" RELATED [] synonym: "Albumin Osaka 2" RELATED [] synonym: "Albumin Phnom Penh" RELATED [] synonym: "Albumin Verona B" RELATED [] synonym: "EFO:0000756" EXACT [] synonym: "Malignant Melanoma" EXACT [] synonym: "malignant melanomas" EXACT [] synonym: "Malignant Melanoma, Somatic" EXACT [] synonym: "MALIGNANT MELANOMA SUSCEPTIBILITY" RELATED [] synonym: "melanomas" EXACT [] synonym: "naevocarcinoma" EXACT [] synonym: "Non-Cutaneous Melanoma" NARROW [] xref: EFO:0000756 xref: EFO:1000397 xref: MESH:D008545 xref: NCI:C120298 xref: NCI:C21790 xref: NCI:C3224 xref: NCI:C60451 is_a: DOID:0050687 ! cell type cancer is_a: DOID:9005825 ! Nevi and Melanomas [Term] id: DOID:1910 name: vaginal yolk sac tumor def: "A vaginal cancer that is a primitive, malignant, germ cell tumor with histological features recapitulating various development phases of the normal yolk sac. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30814243 "DO"] synonym: "vaginal endodermal sinus neoplasm" EXACT [] synonym: "vaginal Yolk Sac neoplasm" EXACT [NCI2004_11_17:C6379] xref: NCI:C6379 xref: RDO:9004610 is_a: DOID:119 ! vaginal cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:1911 name: endodermal sinus tumor def: "A germ cell cancer that has_material_basis_in cells that line the yolk sac of the embryo. (DO)" [http://en.wikipedia.org/wiki/Endodermal_sinus_tumor "DO", http://en.wikipedia.org/wiki/Germ_cell_tumor "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=876 "DO", https://www.cincinnatichildrens.org/health/y/yolk-sac/ "DO"] synonym: "EFO:0007252" EXACT [] synonym: "endodermal sinus tumors" EXACT [] synonym: "endodermal sinus tumour" EXACT [] synonym: "hepatoid yolk sac tumour" EXACT [] synonym: "infantile embryonal carcinoma" EXACT [] synonym: "yolk sac neoplasm" EXACT [] synonym: "yolk sac tumor" EXACT [] synonym: "yolk sac tumors" EXACT [] synonym: "yolk sac tumour" EXACT [] xref: EFO:0007252 xref: ICDO:9071/3 xref: MESH:D018240 xref: NCI:C3011 is_a: DOID:154 ! mixed cell type cancer is_a: DOID:2994 ! germ cell cancer is_a: DOID:3095 ! germ cell and embryonal cancer is_a: DOID:9006399 ! Mesonephroma [Term] id: DOID:1919 name: Lesch-Nyhan syndrome def: "A purine-pyrimidine metabolic disorder characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips that has_material_basis_in mutation in the HPRT1 gene on chromosome Xq26. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31182398/ "DO"] synonym: "choreoathetosis self mutilation hyperuricemia syndrome" EXACT [] synonym: "choreoathetosis self mutilation syndrome" EXACT [] synonym: "choreoathetosis self-mutilation syndromes" EXACT [] synonym: "complete HGPRT deficiency disease" EXACT [] synonym: "complete HPRT deficiencies" EXACT [] synonym: "complete HPRT deficiency" EXACT [] synonym: "Complete Hypoxanthine Guanine Phosphoribosyltransferase Deficiency" EXACT [] synonym: "Deficiency of Guanine Phosphoribosyltransferase" EXACT [] synonym: "Deficiency of Hypoxanthine Phosphoribosyltransferase" EXACT [] synonym: "deficiency of IMP pyrophosphorylase" EXACT [] synonym: "guanine phosphoribosyltransferase deficiencies" EXACT [] synonym: "Guanine Phosphoribosyltransferase Deficiency" EXACT [] synonym: "HGPRT Deficiencies" EXACT [] synonym: "HG-PRT deficiency" EXACT [] synonym: "HGPRT Deficiency" EXACT [] synonym: "HPRT1 DEFICIENCY" EXACT [] synonym: "HPRT1-RELATED DISORDERS" BROAD [] synonym: "HPRT CHERMSIDE" RELATED [] synonym: "HPRT CHICAGO" RELATED [] synonym: "HPRT CONNERSVILLE" RELATED [] synonym: "HPRT COORPAROO" RELATED [] synonym: "HPRT DEFICIENCY" EXACT [] synonym: "HPRT DETROIT" RELATED [] synonym: "HPRT EVANSVILLE" RELATED [] synonym: "HPRT FLINT" RELATED [] synonym: "HPRT Fujimi" RELATED [] synonym: "HPRT KINSTON" RELATED [] synonym: "HPRT MICHIGAN" RELATED [] synonym: "HPRT MIDLAND" RELATED [] synonym: "HPRT NEW BRITON" RELATED [] synonym: "HPRT NEW HAVEN" RELATED [] synonym: "HPRT PARIS" RELATED [] synonym: "HPRT TOKYO" RELATED [] synonym: "HPRT Yale" RELATED [] synonym: "Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency" EXACT [] synonym: "Hypoxanthine Guanine Phosphoribosyltransferase Deficiency" EXACT [] synonym: "Hypoxanthine Phosphoribosyltransferase Deficiencies" EXACT [] synonym: "Hypoxanthine Phosphoribosyltransferase Deficiency" EXACT [] synonym: "Hypoxanthine Phosphoribosyl Transferase Deficiency Disease" EXACT [] synonym: "Hypoxanthine-Phosphoribosyl-Transferase Deficiency Diseases" EXACT [] synonym: "Juvenile Gout, Choreoathetosis, Mental Retardation Syndrome" EXACT [] synonym: "Juvenile Hyperuricemia Syndrome" EXACT [] synonym: "Juvenile Hyperuricemia Syndromes" EXACT [] synonym: "Lesch Nyhan Disease" EXACT [] synonym: "LNS" EXACT [] synonym: "Primary Hyperuricemia Syndrome" EXACT [] synonym: "primary hyperuricemia syndromes" EXACT [] synonym: "total HPRT deficiency" EXACT [] synonym: "total hypoxanthine guanine phosphoribosyl transferase deficiency" EXACT [] synonym: "X-linked hyperuricemia" EXACT [] synonym: "X-linked hyperuricemias" EXACT [] synonym: "X-linked primary hyperuricemia" EXACT [] synonym: "X-linked primary hyperuricemias" EXACT [] xref: ICD10CM:E79.1 xref: MESH:D007926 xref: MIM:300322 xref: MONDO:0010298 xref: NCI:C61255 xref: ORDO:510 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:225 ! syndrome is_a: DOID:653 ! purine-pyrimidine metabolic disorder is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:192 name: sex cord-gonadal stromal tumor def: "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary or testis and derives_from granulosa cells, Leydig cells, Sertoli cells, and fibroblasts. (DO)" [http://en.wikipedia.org/wiki/Sex_cord-gonadal_stromal_tumour "DO"] synonym: "EFO:1000052" EXACT [] synonym: "gynandroblastoma" EXACT [] synonym: "gynandroblastomas" EXACT [] synonym: "malignant testicular sex cord-stromal tumor" NARROW [] synonym: "malignant testicular sex cord-stromal tumour" NARROW [] synonym: "sex cord-gonadal stromal tumour" EXACT [] synonym: "sex cord-stromal neoplasm" EXACT [] synonym: "Sex Cord Stromal Tumor" EXACT [] synonym: "sex cord-stromal tumors" EXACT [] synonym: "sex cord stromal tumour" EXACT [] synonym: "specialized gonadal neoplasm" EXACT [] synonym: "specialized gonadal tumor" EXACT [] synonym: "specialized gonadal tumour" EXACT [] xref: EFO:0007483 xref: EFO:1000052 xref: ICDO:8590/1 xref: MESH:D018312 xref: NCI:C3794 is_a: DOID:193 ! reproductive organ cancer is_a: DOID:9005959 ! Gonadal Tissue Neoplasms [Term] id: DOID:1920 name: hyperuricemia def: "An acquired metabolic disease that has_material_basis_in an abnormally high level of uric acid in the blood. (DO)" [http://en.wikipedia.org/wiki/Hyperuricemia "DO"] synonym: "blood urate raized" EXACT [] synonym: "uricacidemia" EXACT [] xref: EFO:0009104 xref: MESH:D033461 xref: NCI:C3961 is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:1921 name: Klinefelter syndrome def: "A chromosomal duplication syndrome that is characterized by infertility and that has_material_basis_in an extra X chromosome in cells in men. (DO)" [https://ghr.nlm.nih.gov/condition/klinefelter-syndrome "DO", https://www.genome.gov/Genetic-Disorders/Klinefelter-Syndrome "DO"] synonym: "47, XXY" EXACT [] synonym: "48,XXYY syndrome" EXACT [] synonym: "49,XXXXY Syndrome" EXACT [] synonym: "Hypogonadotropic Hypogonadism" EXACT [] synonym: "Klinefelter's syndrome" EXACT [] synonym: "Klinefelters syndrome" EXACT [] synonym: "Klinefelter syndromes" EXACT [] synonym: "Klinefelter Syndromes, Variants" EXACT [] synonym: "Klinefelter Syndrome, Variants" EXACT [] synonym: "XXXY Male" EXACT [] synonym: "XXXY Males" EXACT [] synonym: "XXY Syndrome" EXACT [] synonym: "XXY Syndromes" EXACT [] synonym: "XXY Trisomies" EXACT [] synonym: "XXY trisomy" EXACT [] synonym: "XXYY syndrome" EXACT [] synonym: "XXYY syndromes" EXACT [] xref: EFO:1001006 xref: GARD:8705 xref: ICD10CM:Q98.0 xref: ICD9CM:758.7 xref: MESH:D007713 xref: NCI:C185635 xref: NCI:C34752 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development [Term] id: DOID:1923 name: disorder of sexual development def: "A gonadal disease that is characterized by atypical development of chromosomal, gonadal, or anatomic sex. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6976999/ "DO"] synonym: "ambiguous genitalia" EXACT [] synonym: "disorder of sexual differentiation" EXACT [] synonym: "Disorders of Sex Development" EXACT [] synonym: "disorders of sexual development" EXACT [] synonym: "genital ambiguities" EXACT [] synonym: "Genital Ambiguity" EXACT [] synonym: "Intersex Condition" EXACT [] synonym: "intersex conditions" EXACT [] synonym: "Intersexualities" EXACT [] synonym: "Intersexuality" EXACT [] synonym: "sex development disorder" EXACT [] synonym: "sex development disorders" EXACT [] synonym: "sex differentiation disease" EXACT [] synonym: "Sex Differentiation Disorder" EXACT [] synonym: "sex differentiation disorders" EXACT [] synonym: "sexual development disorder" EXACT [] synonym: "sexual development disorders" EXACT [] synonym: "sexual differentiation disorder" EXACT [] synonym: "sexual differentiation disorders" EXACT [] xref: MESH:D012734 xref: NCI:C103186 is_a: DOID:2277 ! gonadal disease is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:1924 name: hypogonadism def: "A gonadal disease that is characterized by diminished functional activity of the gonads. (DO)" [https://en.wikipedia.org/wiki/Hypogonadism "DO"] synonym: "hypergonadotropic hypogonadism" EXACT [] synonym: "isolated hypogonadotropic hypogonadism" EXACT [] synonym: "nonsyndromic hypergonadotropic hypogonadism" NARROW [] xref: MESH:D007006 xref: MIM:241100 xref: MONDO:0002146 xref: NCI:C9227 is_a: DOID:2277 ! gonadal disease [Term] id: DOID:1925 name: Coffin-Siris syndrome alt_id: MESH:C536436 def: "An autosomal dominant intellectual developmental disorder that is characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. (DO)" [http://en.wikipedia.org/wiki/Coffin%E2%80%93Siris_syndrome "DO", http://ghr.nlm.nih.gov/condition/coffin-siris-syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=1465 "DO"] synonym: "Coffin Siris/intellectual disability" EXACT [] synonym: "CSS" EXACT [] synonym: "dwarfism-onychodysplasia" EXACT [] synonym: "fifth digit syndrome" EXACT [] synonym: "short stature-onychodysplasia." EXACT [] xref: GARD:6124 xref: MIM:PS135900 xref: NCI:C35321 xref: ORDO:1465 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:9001487 ! Facies is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9005616 ! Micrognathism is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:1926 name: Gaucher's disease def: "A sphingolipidosis characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body, especially within the bone marrow, spleen and liver. (DO)" [http://en.wikipedia.org/wiki/Gaucher%27s_disease "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/12/viewAbstract "DO"] synonym: "acid beta-glucosidase deficiency" EXACT [] synonym: "acid beta-glucosidase deficiency disease" EXACT [] synonym: "cerebroside lipidosis syndrome" EXACT [] synonym: "cerebroside lipidosis syndromes" EXACT [] synonym: "Chronic Gaucher Disease" EXACT [] synonym: "Gaucher disease" EXACT [] synonym: "GAUCHER DISEASE, NORRBOTTNIAN TYPE" NARROW [] synonym: "GAUCHER DISEASE, TYPE IIIB" NARROW [] synonym: "Gauchers Disease" EXACT [] synonym: "Gaucher Splenomegaly" EXACT [] synonym: "Gaucher Syndrome" EXACT [] synonym: "GBA deficiencies" EXACT [] synonym: "GBA Deficiency" EXACT [] synonym: "glocucerebrosidase deficiency" EXACT [] synonym: "Glucocerebrosidase Deficiencies" EXACT [] synonym: "Glucocerebrosidase Deficiency" EXACT [] synonym: "Glucocerebrosidase Deficiency Disease" EXACT [] synonym: "Glucocerebrosidase Deficiency Diseases" EXACT [] synonym: "Glucocerebrosidoses" EXACT [] synonym: "Glucocerebrosidosis" EXACT [] synonym: "Glucosylceramidase Deficiency" EXACT [] synonym: "Glucosylceramide Beta-Glucosidase Deficiency" EXACT [] synonym: "Glucosylceramide Beta-Glucosidase Deficiency Disease" EXACT [] synonym: "Glucosylceramide Lipidoses" EXACT [] synonym: "Glucosylceramide Lipidosis" EXACT [] synonym: "Glucosyl Cerebroside Lipidoses" EXACT [] synonym: "Glucosyl Cerebroside Lipidosis" EXACT [] synonym: "Infantile Gaucher Disease" EXACT [] synonym: "Kerasin Histiocytoses" EXACT [] synonym: "Kerasin Histiocytosis" EXACT [] synonym: "Kerasin Lipoidoses" EXACT [] synonym: "kerasin lipoidosis" EXACT [] synonym: "kerasin thesaurismoses" EXACT [] synonym: "kerasin thesaurismosis" EXACT [] synonym: "lipoid histiocytoses (kerasin type)" EXACT [] synonym: "lipoid histiocytosis" EXACT [] synonym: "lipoid histiocytosis (kerasin type)" EXACT [] synonym: "neuronopathic Gaucher disease" EXACT [] xref: EFO:0004721 xref: GARD:8233 xref: ICD10CM:E75.22 xref: MESH:D005776 xref: MONDO:0018150 xref: NCI:C61268 xref: ORDO:355 is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:1927 name: sphingolipidosis def: "A lipid storage disease characterized by functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. (DO)" [https://en.wikipedia.org/wiki/Sphingolipidoses "DO", https://www.ncbi.nlm.nih.gov/pubmed/28857617 "DO"] synonym: "sphingolipidoses" EXACT [] synonym: "sphingolipid storage disease" EXACT [] synonym: "sphingolipid storage diseases" EXACT [] xref: GARD:7672 xref: ICD10CM:E75.3 xref: MESH:D013106 xref: NCI:C117254 is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:1928 name: Williams-Beuren syndrome def: "A syndrome that is characterized by mild to moderate intellectual disability, a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips and difficulty with visual-spatial tasks and has_material_basis_in hemizygous deletion of 1.5 to 1.8 Mb on chromosome 7q11.23. (DO)" [https://ghr.nlm.nih.gov/condition/williams-syndrome "DO", https://research.nhgri.nih.gov/atlas/condition/williams-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1249/ "DO"] synonym: "Beuren syndrome" EXACT [] synonym: "chromosome 7q11.23 deletion syndrome" EXACT [] synonym: "chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-MB" EXACT [] synonym: "Fanconi Schlesinger syndrome" EXACT [] synonym: "hypercalcemia-supravalvar aortic stenoses" EXACT [] synonym: "hypercalcemia supravalvar aortic stenosis" EXACT [] synonym: "supravalvar aortic stenosis syndrome" EXACT [] synonym: "WBS" EXACT [] synonym: "Williams contiguous gene syndrome" EXACT [] synonym: "Williams syndrome" EXACT [] synonym: "WMS" EXACT [] synonym: "WS" EXACT [] xref: ICD10CM:Q93.82 xref: MESH:D018980 xref: MIM:194050 xref: MONDO:0008678 xref: NCI:C85232 xref: ORDO:904 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:1929 ! supravalvular aortic stenosis [Term] id: DOID:1929 name: supravalvular aortic stenosis alt_id: MIM:185500 def: "An aortic valve stenosis that is characterized by a narrowing of the section of the aorta just above the valve that connects the aorta to the heart. (DO)" [https://ghr.nlm.nih.gov/condition/supravalvular-aortic-stenosis "DO", https://rarediseases.info.nih.gov/diseases/743/supravalvular-aortic-stenosis "DO"] synonym: "aortic supravalvular stenoses" EXACT [] synonym: "ELN-RELATED CONDITION" BROAD [] synonym: "supravalvar aortic stenosis" EXACT [] synonym: "supra-valvular aortic stenosis" EXACT [] synonym: "SVAS" EXACT [] xref: GARD:743 xref: ICD10CM:Q25.3 xref: MESH:D021921 xref: MONDO:0008504 xref: NCI:C85176 xref: ORDO:3193 is_a: DOID:1712 ! aortic valve stenosis [Term] id: DOID:193 name: reproductive organ cancer def: "An organ system cancer that is manifested in the reproductive organs. (DO)" [http://en.wikipedia.org/wiki/Reproductive_system#Examples_of_cancers "DO"] synonym: "cancer of reproductive system" EXACT [] synonym: "malignant reproductive system neoplasm" EXACT [] synonym: "reproductive tumor" EXACT [] xref: NCI:C3674 is_a: DOID:0050686 ! organ system cancer is_a: DOID:15 ! reproductive system disease is_a: DOID:9008651 ! reproductive system neoplasm created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:1930 name: Laurence-Moon syndrome alt_id: MIM:245800 def: "A syndrome characterized by pituitary dysfunction, childhood onset ataxia, peripheral neuropathy, spastic paraplegia, and chorioretinopathy that has_material_basis_in homozygous or compound heterozygous mutation in the PNPLA6 gene on chromosome 19p13.2. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25480986 "DO"] synonym: "Laurence Moon Biedl syndrome" RELATED [] synonym: "LNMS" EXACT [] xref: GARD:12635 xref: MESH:D007849 xref: NCI:C34760 xref: ORDO:2377 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1931 ! hypothalamic disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:1931 name: hypothalamic disease def: "A brain disease located_in the hypothalamus. (DO)" [https://en.wikipedia.org/wiki/Hypothalamic_disease "DO", https://medlineplus.gov/ency/article/002380.htm "DO"] synonym: "Hypothalamic-Adenohypophyseal Disorder" EXACT [] synonym: "hypothalamic adenohypophyseal disorders" EXACT [] synonym: "hypothalamic diseases" EXACT [] synonym: "Hypothalamic Dysfunction Syndrome" EXACT [] synonym: "hypothalamic dysfunction syndromes" EXACT [] synonym: "Hypothalamic Dysinhibition Syndrome" EXACT [] synonym: "Hypothalamic Dysinhibition Syndromes" EXACT [] synonym: "Hypothalamic-Neurohypophyseal Disorder" EXACT [] synonym: "Hypothalamic Neurohypophyseal Disorders" EXACT [] synonym: "Hypothalamic Overactivity Syndrome" EXACT [] synonym: "Hypothalamic Overactivity Syndromes" EXACT [] synonym: "Hypothalamic Pseudopuberties" EXACT [] synonym: "hypothalamic pseudopuberty" EXACT [] synonym: "pituitary diencephalic syndrome" EXACT [] synonym: "pituitary diencephalic syndromes" EXACT [] xref: MESH:D007027 is_a: DOID:936 ! brain disease [Term] id: DOID:1932 name: Angelman syndrome alt_id: MESH:C531619 alt_id: MIM:105830 def: "A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. (DO)" [https://en.wikipedia.org/wiki/Angelman_syndrome "DO", https://ghr.nlm.nih.gov/condition/angelman-syndrome#genes "DO", https://research.nhgri.nih.gov/atlas/condition/angelman-syndrome "DO"] synonym: "ANCR" NARROW [] synonym: "ANGELMAN SYNDROME CHROMOSOME REGION" NARROW [] synonym: "AS" EXACT [] synonym: "happy puppet syndrome" EXACT [] synonym: "puppet children" EXACT [] synonym: "puppetlike syndrome" EXACT [] xref: EFO:0004131 xref: GARD:5810 xref: ICD10CM:Q93.51 xref: MESH:D017204 xref: MONDO:0007113 xref: NCI:C75462 xref: ORDO:72 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:480 ! movement disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:1933 name: Rubinstein-Taybi syndrome alt_id: MIM:180849 alt_id: MIM:613684 def: "A syndrome characterized by short stature, moderate to sever intellectual disability, distinctive facial features and broad thumbs and first toes. (DO)" [http://en.wikipedia.org/wiki/Rubinstein%E2%80%93Taybi_syndrome "DO", http://ghr.nlm.nih.gov/condition/rubinstein-taybi-syndrome "DO", https://research.nhgri.nih.gov/atlas/condition/rubinstein-taybi-syndrome "DO"] synonym: "broad thumb hallux syndrome" EXACT [] synonym: "broad thumb-hallux syndromes" EXACT [] synonym: "broad thumbs and great toes, characteristic facies, and mental retardation" EXACT [] synonym: "CREBBP-RELATED CONDITION" BROAD [] synonym: "RSTS" EXACT [] synonym: "RSTS1" EXACT [] synonym: "RSTS2" EXACT [] synonym: "Rubinstein syndrome" EXACT [] synonym: "Rubinstein-Taybi syndrome 1" EXACT [] synonym: "Rubinstein-Taybi syndrome 2" EXACT [] xref: GARD:7593 xref: MESH:D012415 xref: MIM:PS180849 xref: NCI:C75466 xref: ORDO:783 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:1934 ! dysostosis is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:1934 name: dysostosis def: "A bone development disease that results in defective ossification of bone. (DO)" [http://en.wikipedia.org/wiki/Dysostosis "DO", http://medical-dictionary.thefreedictionary.com/dysostosis "DO"] synonym: "dysostoses" EXACT [] xref: MESH:D004413 xref: NCI:C34560 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:1935 name: Bardet-Biedl syndrome def: "A syndrome that results from mutations in multiple BBS genes affecting cellular cilia structure or function (ciliopathy) resulting in variable presentation and characterized principally by obesity, retinitis pigmentosa,vision loss, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. (DO)" [http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome "DO", http://en.wikipedia.org/wiki/Ciliopathy "DO", http://ghr.nlm.nih.gov/condition/bardet-biedl-syndrome "DO"] synonym: "Bardet-Biedl syndrome, modifier of" RELATED [] xref: GARD:6866 xref: MESH:D020788 xref: MIM:PS209900 xref: NCI:C118632 xref: ORDO:110 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060340 ! ciliopathy is_a: DOID:1931 ! hypothalamic disease is_a: DOID:225 ! syndrome [Term] id: DOID:1936 name: atherosclerosis alt_id: MIM:108725 def: "A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA. (DO)" [] synonym: "ALP" EXACT [] synonym: "Atherogenesis" EXACT [] synonym: "ATHEROGENIC LIPOPROTEIN PHENOTYPE" EXACT [] synonym: "Atheroscleroses" EXACT [] synonym: "ATHEROSCLEROSIS SUSCEPTIBILITY" EXACT [] synonym: "Atherosclerosis, Susceptibility To" EXACT [] synonym: "ATHS" EXACT [] xref: EFO:0003914 xref: ICD10CM:I70 xref: ICD9CM:440 xref: MESH:D050197 xref: NCI:C35768 xref: NCI:C35771 is_a: DOID:2348 ! arteriosclerotic cardiovascular disease [Term] id: DOID:1942 name: intermittent squint synonym: "intermittent heterotropia" EXACT [] xref: ICD10CM:H50.3 xref: ICD9CM:378.2 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1943 name: telogen effluvium xref: ICD10CM:L65.0 xref: ICD9CM:704.02 xref: NCI:C112200 is_a: DOID:987 ! alopecia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:1947 name: trichomoniasis def: "A parasitic protozoa infectious disease that is caused by singled-celled protozoan parasites Trichomonas vaginalis or Trichomonas tenax, which infect the urogenital tract and mouth respectively. (DO)" [http://en.wikipedia.org/wiki/Trichomoniasis "DO"] synonym: "trichomonas infection" EXACT [] synonym: "trichomonas infections" EXACT [] xref: ICD10CM:A59 xref: ICD9CM:131 xref: MESH:D014245 xref: NCI:C35720 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:1949 name: cholecystitis alt_id: DOID:9006000 def: "A cholangitis that is characterized by an inflammation that is located in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Cholecystitis "DO", https://www.merriam-webster.com/dictionary/cholecystitis#medicalDictionary "DO"] synonym: "acute and chronic cholecystitis" EXACT [] synonym: "acute on chronic cholecystitis" EXACT [] synonym: "chronic cholecystitis" EXACT [] synonym: "gall bladder empyema" EXACT [] synonym: "gallbladder empyema" EXACT [] synonym: "gallbladder inflammation" EXACT [] xref: GARD:30 xref: ICD10CM:K81 xref: ICD9CM:575.10 xref: MESH:D002764 xref: NCI:C34465 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:9446 ! cholangitis [Term] id: DOID:1962 name: fallopian tube disease def: "A female reproductive system disease that is located_in the fallopian tube. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21415195 "DO"] synonym: "fallopian tube diseases" EXACT [] synonym: "tubal obstruction" EXACT [] synonym: "tubal obstructions" EXACT [] xref: EFO:0009548 xref: MESH:D005184 xref: NCI:C26771 is_a: DOID:229 ! female reproductive system disease is_a: DOID:9003261 ! Adnexal Diseases [Term] id: DOID:1963 name: fallopian tube carcinoma def: "A fallopian tube cancer that is located_in the fallopian tube. (DO)" [http://www.cancer.gov/dictionary/?CdrID=45687 "DO"] synonym: "cancer of the fallopian tube" EXACT [] synonym: "carcinoma of fallopian tube" EXACT [] synonym: "EFO:1000251" EXACT [] synonym: "fallopian tube Ca" EXACT [] xref: EFO:1000251 xref: NCI:C3867 is_a: DOID:1964 ! fallopian tube cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:1964 name: fallopian tube cancer def: "A female reproductive organ cancer that is located_in fallopian tube. (DO)" [http://en.wikipedia.org/wiki/Fallopian_tube_cancer "DO"] synonym: "cancer of fallopian tubes" EXACT [] synonym: "fallopian tube neoplasm" EXACT [] synonym: "malignant fallopian tube tumor" EXACT [] synonym: "malignant neoplasm of uterine tube" EXACT [] synonym: "malignant tumor of fallopian tube" EXACT [] synonym: "malignant tumor of fallopian tubes" EXACT [] synonym: "malignant tumour of fallopian tube" EXACT [] synonym: "neoplasm of fallopian tube" EXACT [] synonym: "tumor of the fallopian tube" EXACT [] xref: GARD:9162 xref: ICD10CM:C57.0 xref: ICD9CM:183.2 xref: NCI:C3032 xref: NCI:C7480 xref: ORDO:180242 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:9000189 ! Fallopian Tube Neoplasms created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:1965 name: fallopian tube leiomyosarcoma def: "A fallopian tube cancer that dervies_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20191300 "DO"] xref: NCI:C40128 is_a: DOID:1964 ! fallopian tube cancer is_a: DOID:1967 ! leiomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:1967 name: leiomyosarcoma def: "A smooth muscle cancer that can arise almost anywhere in the body, but is most common in the uterus, abdomen, or pelvis. (DO)" [http://www.cancer.gov/dictionary/?CdrID=46027 "DO"] synonym: "EFO:0000564" EXACT [] synonym: "leiomyosarcomas" EXACT [] xref: EFO:0000564 xref: GARD:6880 xref: ICDO:8890/3 xref: MESH:D007890 xref: NCI:C3158 is_a: DOID:1115 ! sarcoma is_a: DOID:4230 ! smooth muscle cancer [Term] id: DOID:1969 name: cerebral palsy def: "A brain disease that is caused by damage to the motor control centers of the developing brain during pregnancy, during childbirth or after birth, which affects muscle movement and balance. (DO)" [http://en.wikipedia.org/wiki/Cerebral_palsy "DO", http://www.brainandspinalcord.org/cerebral-palsy/index.html "DO", http://www.cerebralpalsy.org/what-is-cerebral-palsy/ "DO"] synonym: "athetoid cerebral palsies" NARROW [] synonym: "athetoid cerebral palsy" NARROW [] synonym: "atonic cerebral palsy" NARROW [] synonym: "congenital cerebral palsy" EXACT [] synonym: "CP" EXACT [] synonym: "dystonic-rigid cerebral palsies" NARROW [] synonym: "dystonic-rigid cerebral palsy" NARROW [] synonym: "hypotonic cerebral palsies" NARROW [] synonym: "hypotonic cerebral palsy" NARROW [] synonym: "infantile cerebral palsy" EXACT [] synonym: "RHOB-RELATED DISORDER" NARROW [] synonym: "Rolandic type cerebral palsy" NARROW [] xref: EFO:1000632 xref: ICD10CM:G80 xref: MESH:D002547 xref: NCI:C34460 is_a: DOID:9008381 ! Chronic Brain Damage [Term] id: DOID:1970 name: fallopian tube carcinosarcoma def: "A fallopian tube cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. (DO)" [http://en.wikipedia.org/wiki/Carcinosarcoma "DO"] synonym: "EFO:1000252" EXACT [] synonym: "fallopian tube malignant mixed mesodermal (mullerian) tumor" EXACT [] synonym: "fallopian tube malignant mixed Mullerian tumor" EXACT [] xref: EFO:1000252 xref: NCI:C40124 is_a: DOID:1964 ! fallopian tube cancer is_a: DOID:4236 ! carcinosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:1973 name: fallopian tube adenosarcoma def: "A fallopian tube carcinoma that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24557435 "DO"] synonym: "fallopian tube mullerian adenosarcoma" EXACT [] xref: NCI:C40125 xref: RDO:9003282 is_a: DOID:1970 ! fallopian tube carcinosarcoma is_a: DOID:1974 ! adenosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:1974 name: adenosarcoma def: "A carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. (DO)" [http://en.wikipedia.org/wiki/Adenosarcoma "DO"] synonym: "adenosarcomas" EXACT [] synonym: "EFO:0007134" EXACT [] synonym: "mullerian adenosarcoma" EXACT [] xref: EFO:0007134 xref: ICDO:8933/3 xref: MESH:D018195 xref: NCI:C9474 is_a: DOID:1115 ! sarcoma is_a: DOID:4236 ! carcinosarcoma is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:1975 name: thymus lipoma def: "An immune system organ benign neoplasm that is located_in the thymus and derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24736228 "DO"] synonym: "thymolipoma" EXACT [] xref: NCI:C6452 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:0060092 ! immune system organ benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:533 ! thymus gland disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:1979 name: focal chorioretinitis xref: ICD10CM:H30.0 xref: ICD9CM:363.0 xref: RDO:9003509 is_a: DOID:8886 ! chorioretinitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:1984 name: rectal benign neoplasm def: "An intestinal benign neoplasm located_in the rectum. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK6994/ "DO"] synonym: "neoplasm of rectum" EXACT [] synonym: "rectal neoplasm" EXACT [] synonym: "rectal neoplasms" EXACT [] synonym: "rectal tumor" EXACT [] synonym: "rectal tumors" EXACT [] synonym: "rectum neoplasm" EXACT [] synonym: "rectum neoplasms" EXACT [] xref: MESH:D012004 xref: NCI:C3350 is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:9008443 ! Colorectal Neoplasms [Term] id: DOID:1988 name: rectum lymphoma synonym: "lymphoma of rectum" EXACT [] xref: NCI:C5553 is_a: DOID:0060058 ! lymphoma is_a: DOID:1993 ! rectum cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:1992 name: rectum malignant melanoma synonym: "malignant melanoma of rectum" EXACT [] synonym: "melanoma of rectum" EXACT [] xref: NCI:C4640 is_a: DOID:1909 ! melanoma is_a: DOID:1993 ! rectum cancer created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:1993 name: rectum cancer def: "A colorectal cancer that is located_in the rectum. (DO)" [http://www.cancer.gov/dictionary?CdrID=529764 "DO"] synonym: "cancer of rectum" EXACT [] synonym: "carcinoma of rectum" EXACT [] synonym: "carcinoma of the rectum" EXACT [] synonym: "EFO:1000657" EXACT [] synonym: "malignant neoplasm of rectum" EXACT [] synonym: "malignant rectal tumor" EXACT [] synonym: "malignant rectum tumor" EXACT [] synonym: "malignant tumor of rectum" EXACT [] synonym: "rectal cancer" EXACT [] synonym: "rectal cancers" EXACT [] synonym: "rectum cancers" EXACT [] xref: EFO:1000657 xref: ICD10CM:C20 xref: ICD9CM:154.1 xref: NCI:C7418 xref: NCI:C9382 is_a: DOID:9256 ! colorectal cancer created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:1995 name: rectum sarcoma def: "A sarcoma and malignant tumor of rectum that is located_in the rectum. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23712252 "DO"] synonym: "sarcoma of rectum" EXACT [] xref: NCI:C5548 is_a: DOID:1115 ! sarcoma is_a: DOID:1993 ! rectum cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:1996 name: rectum adenocarcinoma def: "A rectum cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of rectum" RELATED [] synonym: "EFO:0005631" EXACT [] synonym: "rectal adenocarcinoma" EXACT [] xref: EFO:0005631 xref: NCI:C9383 is_a: DOID:0050861 ! colorectal adenocarcinoma is_a: DOID:0050913 ! large intestine adenocarcinoma is_a: DOID:9002533 ! Rectum Carcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:1998 name: Lutembacher's syndrome def: "A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS." [MESH:D008185] synonym: "Lutembacher's anomaly" EXACT [SNOMEDCT_2005_07_31:38842003] synonym: "Lutembachers Syndrome" EXACT [] synonym: "Lutembacher syndrome" EXACT [] xref: EFO:1001024 xref: MESH:D008185 xref: RDO:0006034 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:225 ! syndrome [Term] id: DOID:1999 name: chronic eustachian salpingitis def: "A otosalpingitis which is persistent and long-lasting. (DO)" [http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false "DO"] synonym: "chronic eustachian tube salpingitis" EXACT [] xref: ICD10CM:H68.02 xref: ICD9CM:381.52 xref: RDO:9003845 is_a: DOID:2000 ! otosalpingitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:200 name: benign giant cell tumor is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:9003853 ! Giant Cell Tumors [Term] id: DOID:2000 name: otosalpingitis def: "A eustachian tube disorder which involves inflammation of the mucous membrane of the cartilagenous portion of the eustachian tube caused by acute nasopharyngitis, infection from some pathogenic microbes or trauma of the tube. (DO)" [http://books.google.com/books?id=Z_z1R9SO8iMC&pg=PA258#v=onepage&q=&f=false "DO"] synonym: "Eustachian salpingitis" EXACT [] synonym: "Eustachian tube salpingitis" EXACT [] xref: ICD10CM:H68.0 xref: ICD9CM:381.5 is_a: DOID:9739 ! eustachian tube disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2001 name: neuroma def: "A nervous system benign neoplasm that is characterized as a nerve tissue tumor. (DO)" [http://en.wikipedia.org/wiki/Neuroma "DO"] synonym: "EFO:0009619" EXACT [] synonym: "neuromas" EXACT [] xref: EFO:0009619 xref: ICDO:9570/0 xref: MESH:D009463 xref: NCI:C3275 is_a: DOID:0060115 ! nervous system benign neoplasm is_a: DOID:9004217 ! Nerve Sheath Neoplasms [Term] id: DOID:2006 name: preretinal fibrosis def: "A membrane on the vitreal surface of the retina resulting from the proliferation of one or more of three retinal elements: (1) fibrous astrocytes; (2) fibrocytes; and (3) retinal pigment epithelial cells. Localized epiretinal membranes may occur at the posterior pole of the eye without clinical signs or may cause marked loss of vision as a result of covering, distorting, or detaching the fovea centralis. Epiretinal membranes may cause vascular leakage and secondary retinal edema. In younger individuals some membranes appear to be developmental in origin and occur in otherwise normal eyes. The majority occur in association with retinal holes, ocular concussions, retinal inflammation, or after ocular surgery. (Newell, Ophthalmology: Principles and Concepts, 7th ed, p291)" [MESH:D019773] synonym: "cellophane maculopathy" EXACT [] synonym: "Epiretinal Membrane" EXACT [] synonym: "Epiretinal Membranes" EXACT [] synonym: "ERM" EXACT [] synonym: "macular puckering of retina" EXACT [] synonym: "macular retinal puckering" EXACT [] xref: ICD9CM:362.56 xref: MESH:D019773 xref: NCI:C175882 is_a: DOID:2007 ! degeneration of macula and posterior pole [Term] id: DOID:2007 name: degeneration of macula and posterior pole synonym: "degeneration of macula and posterior pole of retina" EXACT [] synonym: "degeneration of macula or posterior pole" NARROW [] xref: ICD10CM:H35.3 xref: ICD9CM:362.5 is_a: DOID:4448 ! macular degeneration created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:201 name: connective tissue cancer def: "A musculoskeletal system cancer that is located_in connective tissue. (DO)" [http://en.wikipedia.org/wiki/Connective_tissue "DO"] synonym: "mesenchymal tissue malignant neoplasm" EXACT [] is_a: DOID:0060100 ! musculoskeletal system cancer is_a: DOID:9003944 ! Connective Tissue Neoplasms [Term] id: DOID:2012 name: Nezelof syndrome alt_id: MIM:242700 def: "A T cell deficiency that results from the disfunction or underdevelopment of the thymus. (DO)" [https://en.wikipedia.org/wiki/Nezelof_syndrome "DO", https://meshb.nlm.nih.gov/record/ui?ui=C536288 "DO"] synonym: "immune defect due to absence of thymus" EXACT [] synonym: "Nezelof's syndrome" EXACT [] synonym: "T-cell immunodeficiency with thymic aplasia" EXACT [] synonym: "thymic aplasia" EXACT [] synonym: "thymic dysplasia with normal immunoglobulins" EXACT [] synonym: "TIDTA" EXACT [] xref: ICD10CM:D81.4 xref: ICD9CM:279.13 xref: MESH:C536288 xref: ORDO:83471 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:11200 ! T cell deficiency [Term] id: DOID:2018 name: hyperinsulinism def: "A syndrome with excessively high INSULIN levels in the BLOOD. It may cause HYPOGLYCEMIA. Etiology of hyperinsulinism varies, including hypersecretion of a beta cell tumor (INSULINOMA); autoantibodies against insulin (INSULIN ANTIBODIES); defective insulin receptor (INSULIN RESISTANCE); or overuse of exogenous insulin or HYPOGLYCEMIC AGENTS." [MESH:D006946] synonym: "Compensatory Hyperinsulinemia" EXACT [] synonym: "Endogenous Hyperinsulinism" EXACT [] synonym: "Exogenous Hyperinsulinism" EXACT [] synonym: "HEREDITARY HYPERINSULINISM" NARROW [] synonym: "Hyperinsulinemia" EXACT [] synonym: "HYPERINSULINISM, DOMINANT" NARROW [] synonym: "HYPERINSULINISM, DOMINANT/RECESSIVE" NARROW [] synonym: "HYPERINSULINISM DUE TO HNF4A DEFICIENCY" NARROW [] synonym: "UCP2-RELATED CONDITION" NARROW [] xref: ICD10CM:E16.1 xref: MESH:D006946 is_a: DOID:1428 ! endocrine pancreas disease is_a: DOID:225 ! syndrome is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:2021 name: placenta cancer def: "A female reproductive organ cancer that is located_in the placenta. (DO)" [https://www.medstarcancer.org/conditions/gynecologic-cancer/placenta-cancer/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/26156670 "DO"] synonym: "malignant neoplasm of placenta" EXACT [] synonym: "malignant placental tumor" EXACT [] synonym: "neoplasm of placenta" EXACT [] synonym: "placental cancer" EXACT [] synonym: "placental tumors" EXACT [] synonym: "primary malignant neoplasm of placenta" EXACT [] xref: ICD9CM:181 xref: NCI:C3555 is_a: DOID:363 ! uterine cancer is_a: DOID:780 ! placenta disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:2024 name: placental choriocarcinoma def: "A gestational choriocarcinoma that is located_in the placenta. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2577684/ "DO"] synonym: "choriocarcinoma of the placenta" EXACT [] synonym: "EFO:1000479" EXACT [] xref: EFO:1000479 xref: NCI:C8893 is_a: DOID:2025 ! gestational choriocarcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:2025 name: gestational choriocarcinoma def: "A choriocarcinoma that develops in the presence of a preceding gestational event. (DO)" [https://en.wikipedia.org/wiki/Gestational_choriocarcinoma "DO"] synonym: "gestational chorionepithelioma" EXACT [] synonym: "molar pregnancy with choriocarcinoma" EXACT [] xref: NCI:C4646 is_a: DOID:3594 ! choriocarcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:203 name: exostosis def: "A hyperostosis that involves formation of new bone on the surface of preexisting bone. (DO)" [http://en.wikipedia.org/wiki/Exostosis "DO", http://medical-dictionary.thefreedictionary.com/exostosis "DO"] synonym: "bony outgrowth" EXACT [] synonym: "exostoses" EXACT [] synonym: "orbital exostosis" EXACT [] synonym: "swimmer's exostosis" EXACT [] xref: ICD10CM:M27.8 xref: ICD9CM:726.91 xref: MESH:D005096 xref: NCI:C3029 is_a: DOID:205 ! hyperostosis [Term] id: DOID:2030 name: anxiety disorder alt_id: MIM:607834 def: "A cognitive disorder that involves an excessive, irrational dread of everyday situations. (DO)" [http://www.nimh.nih.gov/health/topics/anxiety-disorders/index.shtml "DO"] synonym: "ANXIETY" EXACT [] synonym: "anxiety disorders" EXACT [] synonym: "anxiety neuroses" EXACT [] synonym: "anxiety state" EXACT [] synonym: "HARM AVOIDANCE" NARROW [] synonym: "Neurotic Anxiety State" EXACT [] synonym: "neurotic anxiety states" EXACT [] synonym: "SEROTONIN TRANSPORTER ACTIVITY, INCREASED/DECREASED" RELATED [] xref: EFO:0005230 xref: EFO:0006788 xref: ICD10CM:F41.9 xref: MESH:D001008 xref: NCI:C2878 is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:2033 name: communication disorder def: "A specific developmental disorder that involves specific developmental disorders of speech and language. (DO)" [http://en.wikipedia.org/wiki/Communication_disorder "DO"] synonym: "Acquired Communication Disorder" EXACT [] synonym: "acquired communication disorders" EXACT [] synonym: "Childhood Communication Disorder" EXACT [] synonym: "childhood communication disorders" EXACT [] synonym: "Communication Disabilities" EXACT [] synonym: "Communication Disability" EXACT [] synonym: "communication disorders" EXACT [] synonym: "Communicative Disorder" EXACT [] synonym: "Communicative Disorders" EXACT [] synonym: "Communicative Dysfunction" EXACT [] synonym: "Communicative Dysfunctions" EXACT [] synonym: "Developmental Communication Disorder" EXACT [] synonym: "Developmental Communication Disorders" EXACT [] synonym: "neurogenic communication disorder" EXACT [] synonym: "neurogenic communication disorders" EXACT [] xref: ICD10CM:F80.9 xref: MESH:D003147 xref: MONDO:0002182 xref: NCI:C2958 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:9002320 ! Neurobehavioral Manifestations is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:2034 name: encephalomalacia def: "A brain disease that is characterized by cerebral softening located_in cerebrum has_material_basis_in injured or dead cells of the central nervous system. (DO)" [https://en.wikipedia.org/wiki/Cerebral_softening "DO"] synonym: "Cerebromalacia" EXACT [] synonym: "cerebromalacias" EXACT [] synonym: "Encephalomalacias" EXACT [] synonym: "Multicystic Encephalomalacia" EXACT [] synonym: "multicystic encephalomalacias" EXACT [] xref: EFO:1000915 xref: MESH:D004678 xref: NCI:C98920 is_a: DOID:936 ! brain disease [Term] id: DOID:204 name: enthesopathy def: "A connective tissue disease characterized by damage of tissues located_in the entheses, the site of insertion of tendons or ligaments into bones or joint capsules, with symptoms of pain, swelling and inflammation. (DO)" [https://en.wikipedia.org/wiki/Enthesopathy "DO", https://www.orthomedctr.com/enthesopathy.php "DO"] synonym: "enthesopathies" EXACT [] xref: EFO:0009666 xref: ICD9CM:726.90 xref: MESH:D000070676 is_a: DOID:65 ! connective tissue disease is_a: DOID:971 ! tendinitis [Term] id: DOID:2043 name: hepatitis B alt_id: MIM:610424 def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis B virus, which is transmitted_by sexual contact, blood transfusions, or fomites like needles or syringes. The infection has_symptom fever, fatigue, loss of appetite, nausea, vomiting, abdominal pain, clay-colored bowel movements, joint pain, and jaundice. (DO)" [http://en.wikipedia.org/wiki/Hepatitis_B#Transmission "DO", http://www.cdc.gov/hepatitis/HBV/index.htm "DO", http://www.cdc.gov/hepatitis/Resources/Professionals/PDFs/ABCTable.pdf "DO"] synonym: "HBV, resistance to" RELATED [] synonym: "HBV, susceptibility to" RELATED [] synonym: "hepatitis B infection" EXACT [] synonym: "hepatitis B virus infection" EXACT [] synonym: "hepatitis B virus, resistance to" RELATED [] synonym: "hepatitis B virus, susceptibility to" RELATED [] synonym: "serum hepatitis" RELATED [] xref: EFO:0004197 xref: MESH:D006509 xref: NCI:C3097 is_a: DOID:9004126 ! Hepadnaviridae Infections is_a: DOID:9007329 ! Human Viral Hepatitis [Term] id: DOID:2044 name: drug-induced hepatitis alt_id: RDO:0007743 def: "Liver disease lasting six months or more, caused by an adverse drug effect. The adverse effect may result from a direct toxic effect of a drug or metabolite, or an idiosyncratic response to a drug or metabolite." [MESH:D056487] synonym: "chronic hepatitis, drug-induced" EXACT [] synonym: "chronic hepatitis, drug-related" EXACT [] synonym: "Drug-Induced Hepatitides" EXACT [] synonym: "Drug-Induced Liver Injury, Chronic" EXACT [] xref: EFO:1000905 xref: MESH:D056487 is_a: DOID:9007383 ! Chemical and Drug Induced Liver Injury is_a: DOID:9008510 ! Chronic Hepatitis [Term] id: DOID:2047 name: hepatitis D def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis delta virus, which is an incomplete virus that requires the helper function of Hepatitis B virus to replicate and only occurs among people who are infected with the Hepatitis B virus. The infection has_symptom fatigue, has_symptom lethargy, has_symptom anorexia, has_symptom nausea, has_symptom jaundice, has_symptom clay-colored stools, has_symptom dark urine, has_symptom changes in personality, has_symptom disturbances in sleep, has_symptom confusion, has_symptom abnormal behavior, has_symptom somnolence, and has_symptom coma. (DO)" [http://www.cdc.gov/hepatitis/HDV/index.htm "DO", http://www.who.int/csr/disease/hepatitis/whocdscsrncs20011/en/index3.html "DO"] synonym: "Amazon Black Fever" EXACT [] synonym: "Delta Hepatitides" EXACT [] synonym: "Delta Hepatitis" EXACT [] synonym: "Delta Infection" EXACT [] synonym: "Delta Infections" EXACT [] synonym: "Delta Superinfection" EXACT [] synonym: "Delta Superinfections" EXACT [] synonym: "HDV" EXACT [] synonym: "hepatitis D virus infection" EXACT [] synonym: "Labrea Disease" EXACT [] synonym: "Labrea Diseases" EXACT [] xref: EFO:0007304 xref: MESH:D003699 is_a: DOID:9002150 ! RNA Virus Infections is_a: DOID:9007329 ! Human Viral Hepatitis is_a: DOID:934 ! viral infectious disease [Term] id: DOID:2048 name: autoimmune hepatitis def: "An autoimmune disease of gastrointestinal tract that results_in inflammation located_in liver caused by the body's immune system attacking the liver cells. (DO)" [http://en.wikipedia.org/wiki/Autoimmune_hepatitis "DO"] synonym: "autoimmune chronic active hepatitis" EXACT [] synonym: "autoimmune chronic hepatitides" EXACT [] synonym: "Autoimmune Chronic Hepatitis" EXACT [] synonym: "autoimmune hepatitides" EXACT [] synonym: "autoimmune hepatitis with centrilobular necrosis" EXACT [] xref: EFO:0005676 xref: GARD:5871 xref: ICD10CM:K75.4 xref: ICD9CM:571.42 xref: MESH:D019693 xref: NCI:C27029 xref: NCI:C27778 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:9008510 ! Chronic Hepatitis [Term] id: DOID:205 name: hyperostosis def: "A bone remodeling disease that results in an abnormal growth of located in bone. (DO)" [http://en.wikipedia.org/wiki/Hyperostosis "DO"] synonym: "Bone Hypertrophies" EXACT [] synonym: "Bone Hypertrophy" EXACT [] synonym: "Hyperostoses" EXACT [] synonym: "hypertrophy of bone" EXACT [] xref: ICD10CM:M89.3 xref: MESH:D015576 xref: NCI:C34712 is_a: DOID:0080005 ! bone remodeling disease [Term] id: DOID:2050 name: acute maxillary sinusitis def: "A maxillary sinusitis which lasts for less than 4 weeks. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] synonym: "acute antritis" EXACT [] xref: ICD10CM:J01.0 xref: ICD10CM:J01.00 xref: ICD9CM:461.0 is_a: DOID:2051 ! maxillary sinusitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:2051 name: maxillary sinusitis def: "A sinusitis which involves infection of maxillary sinuses that causes pain or pressure over the cheeks just below the eyes, tooth ache, and headache. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] synonym: "Maxillary Sinusitides" EXACT [] xref: EFO:0007361 xref: ICD10CM:J32.0 xref: MESH:D015523 xref: NCI:C34809 is_a: DOID:0050127 ! sinusitis [Term] id: DOID:2053 name: reactive cutaneous fibrous lesion xref: EFO:1000759 xref: NCI:C27549 xref: RDO:9003685 is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2055 name: post-traumatic stress disorder def: "An anxiety disorder which results from a traumatic experience that results in psychological trauma. (DO)" [http://en.wikipedia.org/wiki/Post-traumatic_stress_disorder "DO"] synonym: "acute post traumatic stress disorder" EXACT [] synonym: "chronic post traumatic stress disorder" EXACT [] synonym: "delayed onset post traumatic stress disorder" EXACT [] synonym: "post-traumatic neuroses" EXACT [] synonym: "posttraumatic neuroses" EXACT [] synonym: "posttraumatic stress disorder" EXACT [] synonym: "posttraumatic stress disorders" EXACT [] synonym: "PTSD" EXACT [] synonym: "traumatic neurosis" EXACT [] xref: EFO:0001358 xref: ICD10CM:F43.1 xref: ICD9CM:309.81 xref: MESH:D013313 xref: NCI:C3389 is_a: DOID:2030 ! anxiety disorder is_a: DOID:6088 ! acute stress disorder [Term] id: DOID:2058 name: chronic mucocutaneous candidiasis def: "A candidiasis that refers to a heterogeneous group of disorders characterized by recurrent or persistent superficial fungal infections located_in skin, located_in mucous membrane, or located_in nail due to T-cell defects, has-agent Candida species and has_symptom scaling of skin lesions, has_symptom thickening of nails, has_symptom swollen periungal tissue, and has_symptom scarring of the scalp. (DO)" [http://www.merck.com/mmpe/sec13/ch164/ch164f.html?qt=Chronic%20mucocutaneous%20candidiasis&alt=sh "DO"] synonym: "chronic mucocutaneous candidiases" EXACT [] synonym: "familial candidiasis, recessive" NARROW [] synonym: "familial chronic mucocutaneous candidiasis, autosomal recessive" NARROW [] xref: GARD:12313 xref: MESH:D002178 xref: MIM:PS114580 xref: NCI:C34444 xref: ORDO:1334 is_a: DOID:1508 ! candidiasis is_a: DOID:1563 ! dermatomycosis is_a: DOID:4123 ! nail disease [Term] id: DOID:2059 name: vulvar disease def: "A female reproductive system disease that is located_in the vulva. (DO)" [https://en.wikipedia.org/wiki/Vulvar_disease "DO"] synonym: "vulvar diseases" EXACT [] xref: MESH:D014845 xref: NCI:C27631 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:206 name: hereditary multiple exostoses def: "An exostosis that has_material_basis_in a mutation on the genes EXT1, EXT2 and EXT3 which results in multiple bony spurs throughout a child's growth. (DO)" [http://atlasgeneticsoncology.org/Kprones/HeredMultExostosID10061.html "DO", http://en.wikipedia.org/wiki/Hereditary_multiple_exostoses "DO", http://ghr.nlm.nih.gov/condition/hereditary-multiple-exostoses "DO", http://www.mheresearchfoundation.org/ "DO", http://www.wheelessonline.com/ortho/multiple_cartilaginous_exostoses_hereditary_exostosis "DO"] synonym: "Bessel-Hagen disease" EXACT [] synonym: "diaphyseal aclases" EXACT [] synonym: "Diaphyseal Aclasis" EXACT [] synonym: "Familial Exostoses" EXACT [] synonym: "Familial Exostosis" EXACT [] synonym: "Hereditary Deforming Chondrodysplasia" EXACT [] synonym: "Hereditary Deforming Chondrodysplasias" EXACT [] synonym: "Hereditary Multiple Exostosis" EXACT [] synonym: "HEREDITARY MULTIPLE OSTEOCHONDROMATOSIS" EXACT [] synonym: "multiple cartilaginous exostoses" EXACT [] synonym: "Multiple Cartilaginous Exostosis" EXACT [] synonym: "multiple congenital exostosis" EXACT [] synonym: "Multiple Exostoses" EXACT [] synonym: "Multiple Exostosis" EXACT [] synonym: "multiple exostosis syndromes" EXACT [] synonym: "multiple ostechondromas" EXACT [] synonym: "Multiple Osteochondroma" EXACT [] synonym: "multiple osteochondromas" EXACT [] synonym: "multiple osteochondromatosis" EXACT [] synonym: "osteochondromatosis syndrome" EXACT [] xref: EFO:0005560 xref: ICD10CM:Q78.6 xref: MESH:D005097 xref: NCI:C5183 xref: ORDO:321 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:203 ! exostosis is_a: DOID:9005285 ! Osteochondromatosis is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:2060 name: vulvar nodular hidradenoma def: "A vulvar benign neoplasm that is characterized by nodules with cystic foci high in dermis on gross examination and derives_from the sweat gland distal excretory duct. Histologically characterized by nests or lobules of cells resembling eccrine poroma with either clear cytoplasm or prominent squamous metaplasia and lumina lined by cuboidal ductal cells or columnar secretory cells. (DO)" [http://www.pathologyoutlines.com/topic/skintumornonmelanocyticeccrineacrospiroma.html "DO"] xref: NCI:C40312 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:2061 name: nodular hidradenoma synonym: "eccrine nodular hidradenoma" EXACT [] is_a: DOID:3896 ! hidradenoma [Term] id: DOID:2064 name: vulvar syringoma def: "A vulvar benign neoplasm that is characterized by the comma tadpole shaped tail of dilated, cystic eccrine ducts, derives_from the eccrine sweat gland and presents as multiple, small, soft, skin-colored-to-yellowish papules, and has_symptom vulvar discomfort and has_symptom itching. (DO)" [https://en.wikipedia.org/wiki/Syringoma "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2588787/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4190724/ "DO"] xref: NCI:C40311 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:2065 name: syringoma def: "A benign tumor of the sweat glands which is usually multiple and results from malformation of sweat ducts. It is uncommon and more common in females than in males. It is most likely to appear at adolescence, and further lesions may develop during adult life. It does not appear to be hereditary. (Rook et al., Textbook of Dermatology, 4th ed, pp2407-8)" [MESH:D018252] synonym: "syringomas" EXACT [] xref: GARD:10547 xref: ICDO:8407/0 xref: MESH:D018252 xref: NCI:C3761 is_a: DOID:2664 ! sweat gland benign neoplasm is_a: DOID:5443 ! clear cell hidradenoma [Term] id: DOID:2066 name: vulvar angiokeratoma def: "A vulvar benign neoplasm that is characterized by numerous ectatic blood vessels present in the superficial dermis. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4228019/ "DO"] synonym: "Fordyce angiokeratoma of vulva" EXACT [SNOMEDCT_2005_07_31:402841001] xref: NCI:C8596 xref: RDO:9004810 is_a: DOID:0060109 ! vulvar benign neoplasm is_a: DOID:664 ! angiokeratoma of Fordyce created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:2068 name: Bartholin's gland benign neoplasm synonym: "Bartholin gland neoplasm" EXACT [] synonym: "tumor of Bartholin's gland" EXACT [] xref: MONDO:0002193 xref: NCI:C6434 is_a: DOID:0060088 ! vestibular gland benign neoplasm is_a: DOID:60002 ! Bartholin's gland disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:2071 name: vulvar squamous papilloma xref: NCI:C6376 is_a: DOID:2072 ! vulvar squamous tumor is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2072 name: vulvar squamous tumor def: "A vulva cancer that has_material_basis_in squamous tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24342664 "DO"] xref: NCI:C40283 xref: RDO:9003863 is_a: DOID:1245 ! vulva cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2073 name: perinatal intestinal perforation xref: ICD10CM:P78.0 xref: ICD9CM:777.6 is_a: DOID:2074 ! intestinal perforation created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:2074 name: intestinal perforation def: "Opening or penetration through the wall of the INTESTINES." [MESH:D007416] synonym: "intestinal perforations" EXACT [] synonym: "perforation of intestine" EXACT [] xref: EFO:1000987 xref: ICD9CM:569.83 xref: MESH:D007416 xref: NCI:C39611 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:2075 name: minor vestibular glands adenoma def: "A vestibular gland benign neoplasm that is located_in the minor vestibular glands and is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [http://atlasgeneticsoncology.org/Tumors/VulVaginaCarcID5274.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/14714720 "DO"] synonym: "adenoma of minor vestibular glands" EXACT [] xref: NCI:C40301 is_a: DOID:0060088 ! vestibular gland benign neoplasm is_a: DOID:0060109 ! vulvar benign neoplasm is_a: DOID:2076 ! vulvar glandular tumor is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:2076 name: vulvar glandular tumor def: "A vulva cancer that has_material_basis_in glandular tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24342664 "DO"] xref: NCI:C40292 xref: RDO:9003865 is_a: DOID:1245 ! vulva cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2078 name: chondroid syringoma of the vulva xref: NCI:C40302 is_a: DOID:0060109 ! vulvar benign neoplasm is_a: DOID:2065 ! syringoma is_a: DOID:2079 ! eccrine mixed tumor of skin created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:2079 name: eccrine mixed tumor of skin synonym: "eccrine mixed tumor" EXACT [] synonym: "eccrine mixed tumour" EXACT [] synonym: "eccrine mixed tumour of skin" EXACT [] synonym: "EFO:1000385" EXACT [] synonym: "mixed eccrine neoplasm of the skin" EXACT [] xref: EFO:1000385 xref: NCI:C4474 is_a: DOID:173 ! eccrine sweat gland neoplasm created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:2080 name: vulvar trichoepithelioma def: "A vulvar benign neoplasm that derives_from epithelial-mesenchymal origin cells. It is characterized by branching nests of basaloid cells, horn cysts, and abortive hair papillae. The tumors represent benign hamartomas of the pilosebaceous apparatus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4236999/ "DO"] xref: NCI:C40314 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:2092 name: transient arthritis xref: ICD10CM:M12.8 xref: ICD9CM:716.4 xref: NCI:C35761 is_a: DOID:381 ! arthropathy is_a: DOID:848 ! arthritis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:2093 name: vulvar melanoma def: "A vulva cancer that has_material_basis_in melanocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5514586/ "DO"] synonym: "malignant melanoma of vulva" EXACT [] xref: NCI:C40329 is_a: DOID:1245 ! vulva cancer is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2095 name: sweat gland cancer synonym: "malignant neoplasm of sweat gland" EXACT [] synonym: "malignant tumor of the sweat gland" EXACT [] xref: NCI:C4810 is_a: DOID:4159 ! skin cancer is_a: DOID:9007274 ! Sweat Gland Neoplasms created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:2096 name: vulvar sarcoma def: "A vulva cancer that has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25816393 "DO"] synonym: "EFO:0002920" EXACT [] synonym: "sarcoma of vulva" EXACT [] xref: EFO:0002920 xref: NCI:C40317 is_a: DOID:1115 ! sarcoma is_a: DOID:1245 ! vulva cancer [Term] id: DOID:2097 name: vulval Paget's disease def: "A vulva adenocarcinoma that is characterized by distinctive large cells with prominent cytoplasm, referred to as Paget cells and is an intraepithelial neoplasm of epithelial origin expressing apocrine or eccrine glandular-like features. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26971063 "DO"] synonym: "Paget's disease of vulva" EXACT [] synonym: "vulval Paget disease" EXACT [] synonym: "vulvar Paget's disease" EXACT [] xref: NCI:C4027 is_a: DOID:2098 ! vulva adenocarcinoma is_a: DOID:3450 ! cutaneous Paget's disease created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:2098 name: vulva adenocarcinoma def: "A vulva carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of the vulva" EXACT [] synonym: "adenocarcinoma of vulva" EXACT [] xref: NCI:C6380 is_a: DOID:1294 ! vulva carcinoma is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:210 name: heel spur def: "An exostosis that results_in an abnormal growth located_in calcaneus. (DO)" [http://en.wikipedia.org/wiki/Calcaneal_spur "DO", http://www.medterms.com/script/main/art.asp?articlekey=7094 "DO"] synonym: "Calcaneal Spur" EXACT [] synonym: "Calcaneal Spurs" EXACT [] synonym: "Heel Spurs" EXACT [] xref: ICD10CM:M77.3 xref: ICD9CM:726.73 xref: MESH:D036982 is_a: DOID:203 ! exostosis is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:2101 name: vulva squamous cell carcinoma def: "A vulva carcinoma and has_material_basis_in squamous cells and is located_in the epidermis of the vulvar tissue. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO", http://en.wikipedia.org/wiki/Vulvar_cancer#Squamous_cell_carcinoma "DO"] synonym: "EFO:1000624" EXACT [] synonym: "squamous cell carcinoma of vulva" EXACT [] synonym: "vulvar epidermoid carcinoma" EXACT [] synonym: "vulvar squamous cell carcinoma" EXACT [] xref: EFO:1000624 xref: NCI:C4052 xref: ORDO:494448 is_a: DOID:1294 ! vulva carcinoma is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:2106 name: myotonia congenita def: "A muscle tissue disease that is characterized by slow muscle relaxation associated with hyperexcitation of the muscle fibres. (DO)" [http://rarediseases.org/rare-diseases/myotonia-congenita/ "DO", http://www.orpha.net/consor4.01/www/cgi-bin/OC_Exp.php?lng=EN&Expert=614 "DO", https://medlineplus.gov/genetics/condition/myotonia-congenita/ "DO"] synonym: "Batten Turner congenital myopathy" EXACT [] synonym: "Congenital Myotonia" EXACT [] synonym: "Generalized Myotonia" EXACT [] synonym: "Generalized Myotonias" EXACT [] synonym: "myotonia levior" EXACT [] synonym: "MYOTONIA WITH WARM-UP PHENOMENON" NARROW [] synonym: "Thomsen and Becker disease" EXACT [] xref: GARD:12301 xref: ICD9CM:359.22 xref: MESH:D009224 xref: NCI:C84912 xref: ORDO:614 is_a: DOID:0080015 ! physical disorder is_a: DOID:0081337 ! congenital myopathy is_a: DOID:450 ! myotonic disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:2112 name: cystoisosporiasis def: "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Cystoisosporiasis.htm "DO"] synonym: "infection by Isospora belli and Isospora hominis" EXACT [] synonym: "isosporiases" EXACT [] synonym: "isosporiasis" EXACT [] synonym: "isosporosis" EXACT [] xref: EFO:0007232 xref: ICD10CM:A07.3 xref: MESH:D021865 xref: NCI:C4076 is_a: DOID:2113 ! coccidiosis [Term] id: DOID:2113 name: coccidiosis def: "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection. (DO)" [http://en.wikipedia.org/wiki/Coccidiosis "DO"] synonym: "besnoitiases" EXACT [] synonym: "Besnoitiasis" EXACT [] synonym: "Besnoitioses" EXACT [] synonym: "Besnoitiosis" EXACT [] synonym: "coccidioses" EXACT [] synonym: "intestinal coccidiosis" RELATED [] xref: EFO:0007212 xref: MESH:D003048 xref: NCI:C34493 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:2115 name: B cell deficiency def: "A primary immunnodeficiency disease that is caused by a lack of infection-fighting antibody producing B cells (immunoglobulins) or B cells that are not functioning properly. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2601718/pdf/nihms57213.pdf "DO", http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#WhatisPrimaryImmunodeficiency "DO"] synonym: "B cell (antibody) deficiencies" EXACT [] synonym: "immunoglobulin heavy chain deficiency" EXACT [] synonym: "immunoglobulin heavy chain deletion" EXACT [] xref: ICD9CM:279.03 is_a: DOID:612 ! primary immunodeficiency disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:2120 name: focal dermal hypoplasia alt_id: MIM:305600 def: "A syndrome characterized at birth by streaks of very thin skin (dermal hypoplasia), cutis aplasia, and telangiectases, and has_material_basis_in heterozygous mutation in the PORCN gene on chromosome Xp11.23. (DO)" [https://rarediseases.info.nih.gov/diseases/6457/disease "DO"] synonym: "DHOF" EXACT [] synonym: "FDH" EXACT [] synonym: "focal dermal hypoplasias" EXACT [] synonym: "FODH" EXACT [] synonym: "Goltz's Syndrome" EXACT [] synonym: "Goltz-Gorlin syndrome" EXACT [] synonym: "Goltzs syndrome" EXACT [] synonym: "Goltz syndrome" EXACT [] synonym: "PORCN-RELATED CONDITION" EXACT [] xref: GARD:6457 xref: MESH:D005489 xref: NCI:C84715 xref: ORDO:2092 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:1934 ! dysostosis is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:2121 name: ectodermal dysplasia alt_id: OMIA:000323 def: "A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. (DO)" [https://en.wikipedia.org/wiki/Ectodermal_dysplasia "DO", https://medlineplus.gov/ency/article/001469.htm "DO"] synonym: "ACC" EXACT [] synonym: "anhidrotic ectodermal dysplasia" EXACT [] synonym: "anhidrotic ectodermal dysplasias" EXACT [] synonym: "anhydrotic ectodermal dysplasia" EXACT [] synonym: "anhydrotic ectodermal dysplasias" EXACT [] synonym: "aplasia cutis congenita" EXACT [] synonym: "congenital ectodermal defect" EXACT [] synonym: "congenital ectodermal defects" EXACT [] synonym: "congenital ectodermal dysplasia" EXACT [] synonym: "ectodermal dysplasias" EXACT [] synonym: "hidrotic ectodermal dysplasia" EXACT [] synonym: "hidrotic ectodermal dysplasias" EXACT [] synonym: "hydrotic ectodermal dysplasia" EXACT [] synonym: "hydrotic ectodermal dysplasias" EXACT [] synonym: "hypohidrotic ectodermal dysplasia, dominant" NARROW [] synonym: "hypohidrotic ectodermal dysplasia, recessive" NARROW [] xref: GARD:6317 xref: ICD9CM:757.31 xref: MESH:D004476 xref: MIM:PS305100 xref: NCI:C84683 xref: ORDO:79373 is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:2122 name: pneumonic tularemia def: "A tularemia that is located_in lungs. The bacteria are transmitted_by breathing dusts or aerosols containing the organisms. The infection has_symptom cough, has_symptom chest has_symptom pain, and has_symptom difficulty breathing. (DO)" [http://www.cdc.gov/tularemia/signssymptoms/ "DO"] synonym: "bronchopneumonic tularemia" EXACT [] synonym: "pneumonic tularaemia" EXACT [] synonym: "pulmonary tularemia" EXACT [] xref: ICD10CM:A21.2 xref: ICD9CM:021.2 is_a: DOID:2123 ! tularemia is_a: DOID:9008559 ! Bacterial Lung Diseases created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:2123 name: tularemia def: "A primary bacterial infectious disease that has_material_basis_in Francisella tularensis, which is transmitted by dog tick bite (Dermacentor variabilis), transmitted by deer flies (Chrysops sp) or transmitted by contact with infected animal tissues. (DO)" [http://www.cdc.gov/tularemia/index.html "DO"] synonym: "Francisella tularensis infection" EXACT [] synonym: "Francisella tularensis infections" EXACT [] synonym: "tularemias" EXACT [] xref: EFO:1001444 xref: GARD:396 xref: ICD9CM:021.8 xref: MESH:D014406 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:2127 name: brain germinoma def: "A brain cancer that is characterized by abnormally proliferating cells, derives_from germ cells. (DO)" [https://en.wikipedia.org/wiki/Germinoma "DO"] synonym: "germinoma of the brain" EXACT [] synonym: "intracranial germinoma" EXACT [] xref: NCI:C6284 is_a: DOID:1319 ! brain cancer is_a: DOID:4438 ! central nervous system germinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:2129 name: atypical teratoid rhabdoid tumor def: "A brain cancer that is usually located in the brain, but can occur anywhere in the central nervous system. (DO)" [http://en.wikipedia.org/wiki/Atypical_teratoid_rhabdoid_tumor "DO"] synonym: "AT/RT" NARROW [] synonym: "ATRT" EXACT [] synonym: "atypical teratoid/rhabdoid tumour" EXACT [] synonym: "atypical teratoid tumor" EXACT [] synonym: "EFO:1002008" EXACT [] synonym: "RDT" NARROW [] synonym: "rhabdoid tumor of the CNS" EXACT [] synonym: "rhabdoid tumour of the CNS" EXACT [] xref: EFO:1002008 xref: ICDO:9508/3 xref: MESH:C563737 xref: NCI:C6906 xref: ORDO:99966 is_a: DOID:1319 ! brain cancer is_a: DOID:3307 ! teratoma is_a: DOID:3672 ! rhabdoid cancer [Term] id: DOID:2132 name: brain sarcoma def: "A brain cancer that is characterized by abnormally proliferating cells, derives_from embryonic mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12170093 "DO"] synonym: "sarcoma of the brain" EXACT [] xref: MONDO:0002216 xref: NCI:C5154 is_a: DOID:1319 ! brain cancer is_a: DOID:2133 ! central nervous system sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:2133 name: central nervous system sarcoma def: "A central nervous system cancer develops from transformed cells of mesenchymal origin located_in brain and spine, has_material_basis_in abnormally proliferating cells derives_from mesoderm. (DO)" [https://en.wikipedia.org/wiki/Sarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/12170093 "DO"] synonym: "sarcoma of the CNS" EXACT [] xref: NCI:C5153 is_a: DOID:1115 ! sarcoma is_a: DOID:3620 ! central nervous system cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:2135 name: temporal lobe neoplasm synonym: "malignant neoplasm of temporal lobe" EXACT [] synonym: "neoplasm of temporal lobe" EXACT [] synonym: "tumor of temporal lobe" EXACT [] xref: ICD10CM:C71.2 xref: ICD9CM:191.2 xref: NCI:C5567 is_a: DOID:368 ! cerebrum cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:2139 name: paraurethral gland neoplasm synonym: "neoplasm of paraurethral glands" EXACT [] synonym: "tumor of the paraurethral gland" EXACT [] is_a: DOID:730 ! urethral benign neoplasm created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:214 name: teeth hard tissue disease xref: ICD10CM:K03.8 xref: ICD10CM:K03.89 xref: ICD9CM:521.8 xref: RDO:9004412 is_a: DOID:1091 ! tooth disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2140 name: urethral urothelial papilloma xref: NCI:C5061 is_a: DOID:730 ! urethral benign neoplasm created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:2142 name: urethra leiomyoma def: "An urethral benign neoplasm that derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5141528/ "DO"] synonym: "leiomyoma of the urethra" EXACT [] xref: NCI:C6171 is_a: DOID:127 ! leiomyoma is_a: DOID:730 ! urethral benign neoplasm created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:2143 name: ovarian malignant mesothelioma def: "An ovarian cancer that derives_from mesothelial tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8764743 "DO"] xref: NCI:C40444 is_a: DOID:2394 ! ovarian cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:2145 name: malignant ovarian cyst def: "An ovarian cancer that is characterized by cystic structure. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23627408 "DO"] xref: NCI:C3843 xref: RDO:9001881 is_a: DOID:2394 ! ovarian cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:2146 name: ovary sarcoma def: "An ovarian cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21740740 "DO"] synonym: "sarcoma of ovary" EXACT [] xref: NCI:C8267 is_a: DOID:1115 ! sarcoma is_a: DOID:2394 ! ovarian cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:2148 name: tuberculous oophoritis def: "An urogenital tuberculosis that results_in inflammtion located_in ovary. (DO)" [https://www1.cgmh.org.tw/intr/intr5/c6700/OBGYN/f/web/Oophoritis/index.htm "DO"] is_a: DOID:1100 ! ovarian disease is_a: DOID:2149 ! urogenital tuberculosis [Term] id: DOID:2149 name: urogenital tuberculosis def: "An extrapulmonary tuberculosis that is located_in urogenital system. (DO)" [http://en.wikipedia.org/wiki/Urogenital_tuberculosis "DO"] synonym: "genitourinary tuberculosis" EXACT [] synonym: "urogenital tuberculoses" EXACT [] xref: EFO:0007531 xref: ICD10CM:A18.1 xref: ICD9CM:016 xref: MESH:D014401 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:9009146 ! Urogenital Diseases [Term] id: DOID:2150 name: ovarian lymphoma def: "An ovarian cancer that arises_from lymphocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23905454 "DO"] xref: NCI:C40021 is_a: DOID:0060058 ! lymphoma is_a: DOID:2394 ! ovarian cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:2151 name: malignant ovarian surface epithelial-stromal neoplasm def: "An ovary epithelial cancer that has_material_basis_in epithelial and stromal tissue and arises from the surface epithelium of the ovary. (DO)" [https://www.sciencedirect.com/science/article/pii/0046817791902054 "DO"] xref: NCI:C40026 is_a: DOID:2152 ! ovary epithelial cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:2152 name: ovary epithelial cancer def: "An ovarian cancer that is derives_from ovarian surface epithelium. (DO)" [http://en.wikipedia.org/wiki/Ovarian_cancer "DO", http://en.wikipedia.org/wiki/Surface_epithelial-stromal_tumor "DO"] synonym: "epithelial tumor of ovary" EXACT [] synonym: "ovarian epithelial cancer" EXACT [] synonym: "ovarian surface epithelial-stromal tumor" EXACT [] xref: MESH:C538090 xref: NCI:C4381 is_a: DOID:2394 ! ovarian cancer is_a: DOID:305 ! carcinoma is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:2153 name: ovarian Wilms' cancer def: "A malignant neoplasm of ovary and nephroblastoma that is located_in the ovaries. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18260155 "DO"] synonym: "ovarian Wilms' tumor" EXACT [] xref: NCI:C40443 is_a: DOID:2394 ! ovarian cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:2154 name: nephroblastoma alt_id: MIM:194070 def: "A kidney cancer that affects the kidneys and typically occuring in children. (DO)" [http://en.wikipedia.org/wiki/Wilms%27_tumor "DO"] synonym: "adult nephroblastoma" EXACT [] synonym: "adult renal Wilms' tumor" EXACT [] synonym: "bilateral Wilms tumor" EXACT [] synonym: "childhood renal Wilms' cancer" EXACT [] synonym: "childhood renal Wilms tumor" RELATED [] synonym: "nephroblastomas" EXACT [] synonym: "renal Wilms tumor" EXACT [] synonym: "Wilm's tumor" EXACT [] synonym: "Wilms tumor" EXACT [] synonym: "Wilms tumor 1" EXACT [] synonym: "Wilms tumor, somatic" RELATED [] synonym: "Wilms tumor, susceptibility to" RELATED [] synonym: "Wilm tumor" EXACT [] synonym: "WT1" EXACT [] xref: EFO:0000212 xref: EFO:1000626 xref: ICDO:8960/3 xref: ICD-O:M8960/3 xref: MESH:D009396 xref: MIM:PS194070 xref: MONDO:0006058 xref: NCI:C158786 xref: NCI:C27730 xref: NCI:C3267 xref: NCI:C40407 xref: NCI:C60478 xref: NCI:C6180 is_a: DOID:263 ! kidney cancer is_a: DOID:9003765 ! Complex and Mixed Neoplasms is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:2155 name: malignant ovarian germ cell neoplasm synonym: "malignant germ cell tumor of ovary" EXACT [] synonym: "malignant ovarian germ cell tumor" EXACT [] xref: NCI:C4514 is_a: DOID:2156 ! ovarian germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:2156 name: ovarian germ cell cancer alt_id: MIM:603737 def: "An ovarian cancer that originates in the germ (egg) cells of the ovary. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/ovarian-germ-cell/Patient "DO"] synonym: "EFO:1000419" EXACT [] synonym: "germ cell neoplasm of ovary" EXACT [] synonym: "germ cell tumor of ovary" EXACT [] synonym: "ovarian germ cell tumor" RELATED [] xref: EFO:1000419 xref: GARD:9330 xref: MESH:C562841 xref: NCI:C3873 is_a: DOID:2394 ! ovarian cancer is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:216 name: dental caries def: "A teeth hard tissue disease that is characterized by damage to a tooth that can happen when decay-causing bacteria in your mouth make acids that attack the tooth’s surface, or enamel. (DO)" [https://www.nidcr.nih.gov/health-info/tooth-decay "DO"] synonym: "Carious Dentin" EXACT [] synonym: "Dental caries extending into pulp" EXACT [] synonym: "Dental caries of smooth surface" EXACT [] synonym: "Dental caries pit and fissure" EXACT [] synonym: "Dental Decay" EXACT [] synonym: "Dental White Spot" EXACT [] synonym: "dental white spots" EXACT [] synonym: "smooth surface dental caries" NARROW [] synonym: "White Spot" EXACT [] synonym: "white spots" EXACT [] xref: EFO:0003819 xref: EFO:0006338 xref: EFO:0006339 xref: EFO:0600096 xref: ICD10CM:K02.6 xref: ICD10CM:K02.9 xref: ICD9CM:521.0 xref: ICD9CM:521.07 xref: MESH:D003731 xref: NCI:C52593 is_a: DOID:214 ! teeth hard tissue disease is_a: DOID:9004003 ! Tooth Demineralization [Term] id: DOID:2163 name: nasal cavity disease xref: NCI:C27102 is_a: DOID:2825 ! nose disease [Term] id: DOID:217 name: enamel caries synonym: "dental caries limited to enamel" EXACT [] synonym: "primary dental caries" EXACT [] synonym: "simple dental cavity" EXACT [] xref: EFO:0600095 xref: ICD9CM:521.01 is_a: DOID:216 ! dental caries created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:2170 name: vaginitis def: "A vaginal disease that is characterized by inflammation of the vagina. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21524046 "DO"] synonym: "Vaginitides" EXACT [] xref: EFO:0005757 xref: ICD9CM:616.1 xref: MESH:D014627 xref: NCI:C26911 is_a: DOID:121 ! vaginal disease [Term] id: DOID:2173 name: eyelid benign neoplasm def: "Tumors of cancer of the EYELIDS." [MESH:D005142] synonym: "eyelid neoplasm" BROAD [] synonym: "eyelid neoplasms" BROAD [] synonym: "tumor of the eyelid" BROAD [] xref: EFO:1000934 xref: MESH:D005142 xref: NCI:C3031 is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:530 ! eyelid disease is_a: DOID:9004059 ! Eye Neoplasms is_a: DOID:9007009 ! Facial Neoplasms [Term] id: DOID:2174 name: ocular cancer def: "A sensory system cancer located_in the eye that is characterized by uncontrolled cellular proliferation in the eye. (DO)" [http://en.wikipedia.org/wiki/Eye "DO", http://en.wikipedia.org/wiki/Eye_neoplasm "DO"] synonym: "cancer of eye" EXACT [] synonym: "cancer of the eye" EXACT [] synonym: "eye cancer" EXACT [] synonym: "eye cancers" EXACT [] synonym: "malignant eye neoplasm" EXACT [] xref: ICD9CM:190.8 xref: NCI:C3030 is_a: DOID:0060116 ! sensory system cancer is_a: DOID:9004059 ! Eye Neoplasms created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:2176 name: carbuncle def: "An infection of cutaneous and subcutaneous tissue that consists of a cluster of boils. Commonly, the causative agent is STAPHYLOCOCCUS AUREUS. Carbuncles produce fever, leukocytosis, extreme pain, and prostration." [MESH:D002270] synonym: "carbuncle and furuncle of any part of face except eye" EXACT [] synonym: "carbuncle and furuncle of buttock" EXACT [] synonym: "carbuncle and furuncle of face" EXACT [] synonym: "carbuncle and furuncle of foot" EXACT [] synonym: "carbuncle and furuncle of gluteal region" EXACT [] synonym: "carbuncle and furuncle of hand" EXACT [] synonym: "carbuncle and furuncle of leg except foot" EXACT [] synonym: "carbuncle and furuncle of neck" EXACT [] synonym: "carbuncle and furuncle of trunk" EXACT [] synonym: "carbuncle and furuncle of upper arm and forearm" EXACT [] synonym: "carbuncles" EXACT [] xref: EFO:1000674 xref: ICD9CM:680.9 xref: MESH:D002270 is_a: DOID:4223 ! pyoderma is_a: DOID:9002053 ! Furunculosis [Term] id: DOID:218 name: ascending colon cancer synonym: "Ca ascending colon" EXACT [] synonym: "malignant neoplasm of right colon" EXACT [] synonym: "malignant tumor of ascending colon" EXACT [] xref: ICD10CM:C18.2 xref: ICD9CM:153.6 xref: RDO:9002025 is_a: DOID:219 ! colon cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:2181 name: post-surgical hypoinsulinemia synonym: "postsurgical hypoinsulinemia" EXACT [] xref: ICD10CM:E89.1 xref: ICD9CM:251.3 is_a: DOID:1428 ! endocrine pancreas disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2187 name: amelogenesis imperfecta alt_id: OMIA:002015 def: "A dental enamel hypoplasia characterized by abnormal enamel formation. (DO)" [http://en.wikipedia.org/wiki/Amelogenesis_imperfecta "DO", http://ghr.nlm.nih.gov/condition/amelogenesis-imperfecta "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/501/viewAbstract "DO"] synonym: "AMELOGENESIS IMPERFECTA TYPE 1" NARROW [] synonym: "congenital enamel hypoplasia" EXACT [] synonym: "dental hypomineralization" RELATED [] xref: GARD:5791 xref: MESH:D000567 xref: MIM:PS104500 xref: ORDO:88661 is_a: DOID:693 ! dental enamel hypoplasia [Term] id: DOID:219 name: colon cancer def: "A colorectal cancer that is located_in the colon. (DO)" [http://www.cancer.gov/dictionary?CdrID=44237 "DO", https://www.genome.gov/Genetic-Disorders/Colon-Cancer "DO"] synonym: "cancer of colon" EXACT [] synonym: "cancer of the colon" EXACT [] synonym: "COLON CANCER, ADVANCED" NARROW [] synonym: "Colon Cancers" EXACT [] synonym: "COLON CANCER, SUSCEPTIBILITY TO" RELATED [] synonym: "colonic cancer" EXACT [] synonym: "colonic cancers" EXACT [] synonym: "malignant tumor of colon" EXACT [] xref: ICD10CM:C18 xref: ICD9CM:153 xref: NCI:C9242 is_a: DOID:9002928 ! Colonic Neoplasms is_a: DOID:9256 ! colorectal cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:221 name: acute perichondritis of pinna def: "A perichondritis of auricle with a sudden onset and a short course. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm "DO"] xref: ICD9CM:380.01 xref: RDO:9004463 is_a: DOID:222 ! perichondritis of auricle created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2211 name: factor XIII deficiency def: "A blood coagulation disease that is characterized by easy bleeding, has_symptom prolonged umbilical cord bleeding, epistaxis, bleeding of the gums, menorrhagia, recurrent miscarriages, abnormal scar formation and wound healing, and hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation of the F13A1 or F13B gene, which encodes Factor XIII, formally known as fibrin stabilizing factor. (DO)" [http://omim.org/entry/613225 "DO", http://omim.org/entry/613235 "DO", https://ghr.nlm.nih.gov/condition/factor-xiii-deficiency#inheritance "DO"] synonym: "Factor XIII Deficiencies" EXACT [] synonym: "factor XIII deficiency disease" EXACT [] synonym: "hereditary factor XIII deficiency disease" EXACT [] synonym: "Laki-Lorand factor deficiency" EXACT [] xref: GARD:10766 xref: MESH:D005177 xref: NCI:C98941 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:2213 name: hemorrhagic disease def: "Spontaneous or near spontaneous bleeding caused by a defect in clotting mechanisms (BLOOD COAGULATION DISORDERS) or another abnormality causing a structural flaw in the blood vessels (HEMOSTATIC DISORDERS)." [MESH:D006474] synonym: "ABNORMAL BLEEDING" EXACT [] synonym: "hemorrhagic diatheses" EXACT [] synonym: "hemorrhagic diathesis" EXACT [] synonym: "hemorrhagic disorder" EXACT [] synonym: "hemorrhagic disorders" EXACT [] xref: ICD10CM:D69.9 xref: ICD9CM:287.9 xref: MESH:D006474 xref: MONDO:0002243 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:2215 name: factor VII deficiency alt_id: MIM:227500 alt_id: OMIA:000361 def: "A blood coagulation disease that is characterized by easy bleeding, has_symptom epistaxis, bleeding of the gums, menorrhagia, and occasionally hemarthrosis, and has_material_basis_in autosomal recessive inheritance of mutation in the F7 gene, which encodes coagulation factor VII, an important factor in the clotting cascade. (DO)" [http://omim.org/entry/227500 "DO", https://ghr.nlm.nih.gov/condition/factor-vii-deficiency#genes "DO"] synonym: "CONGENITAL FACTOR VII DEFICIENCY" NARROW [] synonym: "F7 deficiency" EXACT [] synonym: "F7-RELATED CONDITION" BROAD [] synonym: "factor VII deficiencies" EXACT [] synonym: "FACTOR VII PADUA" RELATED [] synonym: "hypoproconvertinemia" EXACT [] synonym: "hypoproconvertinemias" EXACT [] synonym: "stable deficiency" EXACT [] xref: GARD:2238 xref: ICD10CM:D68.2 xref: MESH:D005168 xref: NCI:C131631 xref: ORDO:327 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:2216 name: factor V deficiency def: "A deficiency of blood coagulation factor V (known as proaccelerin or accelerator globulin or labile factor) leading to a rare hemorrhagic tendency known as Owren's disease or parahemophilia. It varies greatly in severity. Factor V deficiency is an autosomal recessive trait. (Dorland, 27th ed)" [MESH:D005166] synonym: "Factor V Deficiencies" EXACT [] synonym: "hereditary hypoproaccelerinaemia" EXACT [] synonym: "labile deficiency" EXACT [] synonym: "labile factor deficiencies" EXACT [] synonym: "Labile Factor Deficiency" EXACT [] synonym: "Owren's Disease" EXACT [] synonym: "Owren Disease" EXACT [] synonym: "Owren Parahemophilia" EXACT [] synonym: "Owrens Disease" EXACT [] synonym: "Parahemophilia" EXACT [] synonym: "parahemophilias" EXACT [] synonym: "proaccelerin deficiency" EXACT [] xref: GARD:2237 xref: MESH:D005166 xref: MIM:227400 xref: MONDO:0020586 xref: NCI:C98938 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:2217 name: Bernard-Soulier syndrome alt_id: MIM:231200 def: "A blood coagulation disease characterized by autosomal recessive inheritance of mucosal bleeding, purpuric skin bleeding, epistaxis, and menorrhagia with prolonged bleeding times, enlarged platelets and absence of platelet aggregation in response to von Willebrand factor that has_material_basis_in mutation in the GP1BA gene, the GP1BB gene, or the GP9 gene which are subunits of the platelet membrane von Willebrand factor receptor complex, glycoprotein Ib. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10706630 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8481514 "DO", https://www.ncbi.nlm.nih.gov/pubmed/8703016 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9616133 "DO"] synonym: "BDPLT1" EXACT [] synonym: "Bernard-Soulier thrombopathy" EXACT [] synonym: "BSS" EXACT [] synonym: "Deficiency of Platelet Glycoprotein 1b" EXACT [] synonym: "deficiency of platelet glycoprotein Ib" EXACT [] synonym: "Giant Platelet Syndrome" EXACT [] synonym: "giant platelet syndromes" EXACT [] synonym: "hemorrhagic dystrophic thrombocytopenia" EXACT [] synonym: "Platelet Glycoprotein Ib Deficiency" EXACT [] synonym: "platelet-type bleeding disorder 1" EXACT [] synonym: "Von Willebrand factor receptor deficiency" EXACT [] xref: MESH:D001606 xref: NCI:C84595 xref: ORDO:274 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2218 ! blood platelet disease is_a: DOID:225 ! syndrome is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:2218 name: blood platelet disease alt_id: OMIA:001003 def: "A blood coagulation disease that is characterized by an abnormal increase or decrease in platelets or platelet dysfunction. (DO)" [https://www.merckmanuals.com/home/blood-disorders/platelet-disorders/overview-of-platelet-disorders "DO"] synonym: "blood platelet disorder" EXACT [] synonym: "blood platelet disorders" EXACT [] synonym: "platelet disorder" EXACT [] synonym: "thrombocytopathies" EXACT [] synonym: "thrombocytopathy" EXACT [] synonym: "Thrombopathia" NARROW [] xref: MESH:D001791 xref: MIM:PS231200 xref: NCI:C131634 is_a: DOID:2213 ! hemorrhagic disease [Term] id: DOID:2219 name: Glanzmann's thrombasthenia alt_id: OMIA:001000 def: "A blood coagulation disease characterized by autosomal recessive inheritance of failure of platelet aggregation and absent or diminished clot retraction that has_material_basis_in mutation in the ITGA2B or ITGB3 genes on chromosome 17q21.32. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16463284 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2014236 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9160670 "DO"] synonym: "deficiency of GP 2b 3a complex" EXACT [] synonym: "Glanzmann thrombasthenia" EXACT [] synonym: "Glanzmann Thrombasthenia, Type A" EXACT [] synonym: "Glycoprotein Complex IIb IIIa, Deficiency Of" EXACT [] synonym: "glycoprotein IIb/IIIa defect" EXACT [] synonym: "GP IIb IIIa Complex, Deficiency Of" EXACT [] synonym: "GT" EXACT [] synonym: "Platelet Fibrinogen Receptor, Deficiency of" EXACT [] synonym: "Platelet Glycoprotein 2b 3a Deficiency" EXACT [] synonym: "platelet glycoprotein IIb IIIa deficiency" EXACT [] synonym: "platelet-type bleeding disorder 2" EXACT [] synonym: "thrombasthenia" EXACT [] synonym: "thrombasthenia of Glanzmann and Naegeli" EXACT [] synonym: "thrombasthenias" EXACT [] synonym: "thrombocytasthenia" EXACT [] xref: GARD:2478 xref: ICD10CM:D69.1 xref: MESH:D013915 xref: MIM:PS273800 xref: NCI:C61249 xref: ORDO:849 is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:222 name: perichondritis of auricle def: "An otitis externa involving infection of the tissue surrounding the cartilage of the earlobe (pinna), ear canal, or both. It may be caused by injury, burns, insect bites, ear piercing, or a boil on the ear. The common bacterial causative agent is Pseudomonas aeruginosa. Symptoms include redness, pain, fever, swelling of the earlobe and pus accumulation between the cartilage and the layer of connective tissue around it. (DO)" [http://www.merck.com/mmhe/sec19/ch219/ch219d.html?qt=perichondritis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001253.htm "DO"] synonym: "perichondritis and chondritis of pinna" EXACT [] synonym: "perichondritis of pinna" EXACT [] xref: ICD10CM:H61.0 xref: ICD9CM:380.00 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9463 ! otitis externa created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2222 name: factor X deficiency alt_id: MIM:227600 def: "A blood coagulation disease that is characterized by the partial or complete absence of factor X activity in the blood. (DO)" [https://rarediseases.org/rare-diseases/factor-x-deficiency/ "DO"] synonym: "congenital factor X deficiency" EXACT [] synonym: "congenital Stuart factor deficiency" EXACT [] synonym: "F10 deficiency" EXACT [] synonym: "factor X deficiencies" EXACT [] synonym: "Stuart-Prower deficiency" EXACT [] synonym: "Stuart-Prower disease" EXACT [] synonym: "Stuart Prower factor deficiency" EXACT [] xref: GARD:6404 xref: MESH:D005171 xref: NCI:C131632 xref: ORDO:328 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:2223 name: platelet storage pool deficiency alt_id: MIM:185050 def: "Disorder characterized by a decrease or lack of platelet dense bodies in which the releasable pool of adenine nucleotides and 5HT are normally stored." [MESH:D010981] synonym: "Acquired Storage Pool Disease" EXACT [] synonym: "dense body defect" EXACT [] synonym: "Familial Platelet Storage Pool Disease" EXACT [] synonym: "platelet dense granule deficiency" EXACT [] synonym: "platelet storage pool defect" EXACT [] synonym: "Platelet Storage Pool Deficiencies" EXACT [] synonym: "Platelet Storage Pool Disease" EXACT [] synonym: "Storage Pool Deficiencies" EXACT [] synonym: "Storage Pool Deficiency" EXACT [] synonym: "STORAGE POOL DISEASE OF PLATELETS" EXACT [] xref: EFO:1001112 xref: GARD:5034 xref: MESH:D010981 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:2224 name: essential thrombocythemia alt_id: MIM:187950 def: "A myeloproliferative neoplasm that is characterized by sustained thrombocytosis in the blood, increased numbers of large, mature megakaryocytes in the bone marrow, and episodes of thrombosis and/or hemorrhage and that results_in the overproduction of platelets. (DO)" [http://www.webmd.com/a-to-z-guides/thrombocythemia-essential "DO"] synonym: "autosomal dominant thrombocytoses" EXACT [] synonym: "autosomal dominant thrombocytosis" EXACT [] synonym: "EFO:0000479" EXACT [] synonym: "essential thrombocythaemia" EXACT [] synonym: "Essential Thrombocythemias" EXACT [] synonym: "familial essential thrombocythemia" NARROW [] synonym: "familial thrombocytosis" EXACT [] synonym: "Hemorrhagic Thrombocythemia" EXACT [] synonym: "Hemorrhagic Thrombocythemias" EXACT [] synonym: "hereditary thrombocythemia" EXACT [] synonym: "Idiopathic Thrombocythemia" EXACT [] synonym: "Idiopathic Thrombocythemias" EXACT [] synonym: "Primary Thrombocythemia" EXACT [] synonym: "Primary Thrombocythemias" EXACT [] synonym: "primary thrombocytoses" EXACT [] synonym: "primary thrombocytosis" EXACT [] synonym: "THCYT1" EXACT [] synonym: "thrombocythemia 1" EXACT [] synonym: "thrombocytosis 1" EXACT [] xref: EFO:0000479 xref: GARD:6594 xref: ICD10CM:D47.3 xref: ICD9CM:238.71 xref: ICDO:9962/3 xref: MESH:D013920 xref: NCI:C3407 xref: ORDO:3318 xref: ORDO:71493 is_a: DOID:2226 ! myeloproliferative neoplasm is_a: DOID:2228 ! thrombocytosis [Term] id: DOID:2226 name: myeloproliferative neoplasm def: "A myeloid neoplasm that is characterized by a group of slow growing blood cancers in which large numbers of abnormal red blood cells, white blood cells, or platelets grow and spread in the bone marrow and the peripheral blood. (DO)" [http://www.bloodjournal.org/content/114/5/937.long "DO", http://www.cancer.gov/cancertopics/types/myeloproliferative "DO"] synonym: "chronic myeloproliferative disease" EXACT [] synonym: "Chronic Myeloproliferative Disorder" EXACT [] synonym: "CMPD" EXACT [] synonym: "CMPD, U" EXACT [] synonym: "DDX41-RELATED CONDITION" RELATED [] synonym: "EFO:0004251" EXACT [] synonym: "MYELOPROLIFERATIVE/LYMPHOPROLIFERATIVE NEOPLASMS, FAMILIAL (MULTIPLE TYPES), SUSCEPTIBILITY TO" RELATED [] synonym: "Myeloproliferative Neoplasms" EXACT [] synonym: "MYELOPROLIFERATIVE NEOPLASM, UNCLASSIFIABLE" NARROW [] xref: EFO:0002428 xref: EFO:0004251 xref: ICDO:9960/3 xref: MIM:616871 xref: NCI:C4345 is_a: DOID:0070004 ! myeloid neoplasm created_by: rgd creation_date: 2015-12-23T00:00:00Z [Term] id: DOID:2228 name: thrombocytosis def: "A blood platelet disease that is characterized by the presence of high platelet counts in the blood. (DO)" [http://en.wikipedia.org/wiki/Thrombocytosis "DO", http://my.clevelandclinic.org/disorders/thrombocytosis/hic_thrombocytosis.aspx "DO"] synonym: "thrombocythaemia" EXACT [] synonym: "thrombocythemia" EXACT [] synonym: "thrombocythemias" EXACT [] synonym: "thrombocytoses" EXACT [] xref: ICD10CM:D75.83 xref: MESH:D013922 xref: MIM:PS187950 xref: NCI:C35530 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:2229 name: factor XI deficiency alt_id: MIM:612416 alt_id: OMIA:000363 def: "A blood coagulation disease that is characterized by deficiency of factor XI clotting factor and mild prolonged bleeding, especially of mucosal sites following trauma, and has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation of the coagulation factor XI gene of chromosome 4q35.2. (DO)" [https://ghr.nlm.nih.gov/condition/factor-xi-deficiency "DO", https://www.omim.org/entry/612416 "DO"] synonym: "congenital factor XI deficiency" EXACT [] synonym: "F11 deficiency" EXACT [] synonym: "factor XI deficiencies" EXACT [] synonym: "hemophilia C" EXACT [] synonym: "hereditary factor XI deficiency disease" EXACT [] synonym: "PLASMA FACTOR XI DEFICIENCY" EXACT [] synonym: "plasma thromboplastin antecedent deficiency" EXACT [] synonym: "PTA DEFICIENCY" EXACT [] synonym: "Rosenthal's disease" EXACT [] synonym: "Rosenthal's Syndrome" EXACT [] synonym: "Rosenthals Syndrome" EXACT [] synonym: "Rosenthal syndrome" EXACT [] synonym: "Rosenthal syndromes" EXACT [] xref: GARD:9670 xref: ICD10CM:D68.1 xref: ICD9CM:286.2 xref: MESH:D005173 xref: NCI:C84705 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:223 name: basilar artery insufficiency synonym: "basilar artery insufficiencies" EXACT [] synonym: "Basilar Artery Ischemia" EXACT [] synonym: "Basilar Artery Ischemias" EXACT [] synonym: "Basilar Artery Stenoses" EXACT [] synonym: "Basilar Artery Stenosis" EXACT [] synonym: "basilar artery syndrome" EXACT [] synonym: "Basilar Insufficiencies" EXACT [] synonym: "Basilar Insufficiency" EXACT [] xref: EFO:1001449 xref: ICD9CM:435.0 xref: NCI:C34413 is_a: DOID:0050828 ! artery disease is_a: DOID:224 ! transient cerebral ischemia is_a: DOID:225 ! syndrome [Term] id: DOID:2231 name: factor XII deficiency alt_id: MIM:234000 def: "A blood coagulation disease that is characterized by prolonged PTT time without clinical symptoms, and has_material_basis_in a mutation in the F12 gene on chromosome 5q33. (DO)" [http://omim.org/entry/234000 "DO", https://rarediseases.org/rare-diseases/factor-xii-deficiency/ "DO"] synonym: "Coagulation Factor 12 Deficiency" EXACT [] synonym: "F12 DEFICIENCY" EXACT [] synonym: "factor 12 deficiencies" EXACT [] synonym: "Factor 12 Deficiency" EXACT [] synonym: "factor XII deficiencies" EXACT [] synonym: "factor XII deficiency disease" EXACT [] synonym: "HAF DEFICIENCY" EXACT [] synonym: "Hageman deficiency" EXACT [] synonym: "Hageman factor deficiency" EXACT [] synonym: "Hageman trait" EXACT [] xref: GARD:6558 xref: MESH:D005175 xref: NCI:C131740 xref: ORDO:330 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:2234 name: focal epilepsy def: "An epilepsy syndrome that is characterized by seizures that are preceded by an isolated disturbance of a cerebral function and arise from an epileptic focus, a small portion of the brain that serves as the irritant driving the epileptic response. (DO)" [http://en.wikipedia.org/wiki/Epilepsy "DO", http://en.wikipedia.org/wiki/Focal_epilepsy "DO", http://www.aafp.org/afp/2001/0701/p91.html "DO"] synonym: "abdominal epilepsies" EXACT [] synonym: "Abdominal Epilepsy" EXACT [] synonym: "amygdalo-hippocampal epilepsies" EXACT [] synonym: "Amygdalo-Hippocampal Epilepsy" EXACT [] synonym: "benign occipital epilepsies" EXACT [] synonym: "Benign Occipital Epilepsy" EXACT [] synonym: "Childhood Benign Focal Epilepsy" EXACT [] synonym: "Childhood Benign Occipital Epilepsy" EXACT [] synonym: "digestive epilepsies" EXACT [] synonym: "Digestive Epilepsy" EXACT [] synonym: "Epilepsies, Partial" EXACT [] synonym: "Focal Epilepsies" EXACT [] synonym: "FOCAL-ONSET SEIZURE" EXACT [] synonym: "Focal Seizure Disorder" EXACT [] synonym: "Focal Seizure Disorders" EXACT [] synonym: "FOCAL SEIZURES WITH IMPAIRMENT OF CONSCIOUSNESS OR AWARENESS" NARROW [] synonym: "Gelastic Epilepsies" EXACT [] synonym: "Gelastic Epilepsy" EXACT [] synonym: "localisation-related epilepsy" EXACT [] synonym: "Localization-Related Epilepsies" EXACT [] synonym: "Localization-Related Epilepsy" EXACT [] synonym: "Occipital Lobe Epilepsies" EXACT [] synonym: "Occipital Lobe Epilepsy" EXACT [] synonym: "Partial Epilepsy" EXACT [] synonym: "Partial Seizure Disorder" EXACT [] synonym: "Partial Seizure Disorders" EXACT [] synonym: "Partial Seizures, Simple, Consciousness Preserved" EXACT [] synonym: "Rhinencephalic Epilepsies" EXACT [] synonym: "Rhinencephalic Epilepsy" EXACT [] synonym: "subclinical seizure" EXACT [] synonym: "subclinical seizures" EXACT [] synonym: "uncinate seizure" EXACT [] synonym: "uncinate seizures" EXACT [] xref: EFO:0004263 xref: MESH:D004828 xref: NCI:C122812 is_a: DOID:1826 ! epilepsy [Term] id: DOID:2235 name: prothrombin deficiency def: "A thrombophilia that is characterized by bleeding symptoms due to low levels of circulating prothrombin, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the gene encoding coagulation factor II, also known as prothrombin, on chromosome 11p11. (DO)" [https://ghr.nlm.nih.gov/condition/prothrombin-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/30306070 "DO", https://www.omim.org/entry/613679 "DO", https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=325 "DO"] synonym: "Congenital factor II deficiency" EXACT [] synonym: "factor II deficiencies" EXACT [] synonym: "factor II deficiency" EXACT [] synonym: "hypoprothrombinemia" EXACT [] synonym: "hypoprothrombinemias" EXACT [] synonym: "prothrombin deficiencies" EXACT [] xref: MESH:D007020 xref: NCI:C131737 xref: NCI:C26799 xref: ORDO:325 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:2452 ! thrombophilia is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:2236 name: congenital afibrinogenemia alt_id: MIM:202400 def: "A blood coagulation disease that is characterized by an impaired blood clotting resulting from a lack deficiency of a the fibrinogen protein (coagulation factor I). (DO)" [https://ghr.nlm.nih.gov/condition/congenital-afibrinogenemia#synonyms "DO"] synonym: "afibrinogenemia" EXACT [] synonym: "afibrinogenemias" EXACT [] synonym: "Congenital Afibrinogenaemia" EXACT [] synonym: "Congenital Afibrinogenaemias" EXACT [] synonym: "Congenital Afibrinogenemias" EXACT [] synonym: "congenital hypofibrinogenemia" EXACT [] synonym: "Congenital Hypofibrinogenemias" EXACT [] synonym: "factor I deficiency" EXACT [] synonym: "Familial Afibrinogenemia" EXACT [] synonym: "Familial Afibrinogenemias" EXACT [] synonym: "FGB-RELATED CONDITION" NARROW [] synonym: "Fibrinogen Deficiencies" EXACT [] synonym: "Fibrinogen Deficiency" EXACT [] synonym: "FIBRINOGEN PARIS 1" RELATED [] synonym: "hypofibrinogenemia" EXACT [] xref: GARD:5761 xref: MESH:D000347 xref: NCI:C98130 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080015 ! physical disorder is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:2237 name: hepatitis def: "INFLAMMATION of the LIVER." [MESH:D006505] synonym: "acute/subac. necrosis of liver" NARROW [] synonym: "acute and subacute liver necrosis" NARROW [SNOMEDCT_2005_07_31:197268000] synonym: "acute hepatitis" NARROW [] synonym: "hepatitides" EXACT [] xref: ICD10CM:K73.9 xref: ICD9CM:570 xref: ICD9CM:571.4 xref: ICD9CM:571.41 xref: MESH:D006505 xref: NCI:C82978 is_a: DOID:409 ! liver disease [Term] id: DOID:2239 name: granulomatous hepatitis xref: NCI:C27015 is_a: DOID:2237 ! hepatitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:224 name: transient cerebral ischemia def: "A brain ischemia that is characterized by ischemia of brief duration and without resultant tissue death. (DO)" [https://en.wikipedia.org/wiki/Transient_ischemic_attack "DO"] synonym: "anterior circulation transient ischemic attack" EXACT [] synonym: "Brain Ischemia-Reperfusion Injury" RELATED [] synonym: "Brain Reperfusion Injury" RELATED [] synonym: "Brain Stem Ischemia, Transient" EXACT [] synonym: "Brain Stem Transient Ischemic Attack" EXACT [] synonym: "Brainstem Transient Ischemic Attack" EXACT [] synonym: "Brain TIA" EXACT [] synonym: "Carotid Circulation Transient Ischemic Attack" EXACT [] synonym: "crescendo transient ischemic attacks" EXACT [] synonym: "Posterior Circulation Transient Ischemic Attack" EXACT [] synonym: "TIA" EXACT [] synonym: "TIA (Transient Ischemic Attack)" EXACT [] synonym: "TIA - transient ischaemic attack" EXACT [] synonym: "Transient Brainstem Ischemia" EXACT [] synonym: "transient brainstem ischemias" EXACT [] synonym: "Transient cerebral ischaemia" EXACT [] synonym: "Transient Cerebral Ischemias" EXACT [] synonym: "transient ischemic attack" EXACT [] synonym: "transient ischemic attacks" EXACT [] synonym: "vertebrobasilar circulation transient ischemic attack" EXACT [] xref: EFO:0003764 xref: ICD10CM:G45.9 xref: MESH:D002546 xref: NCI:C50781 is_a: DOID:2316 ! brain ischemia is_a: DOID:9004009 ! Reperfusion Injury [Term] id: DOID:2247 name: spondylosis alt_id: MIM:184300 def: "A bone structure disease that involves degeneration between vertebra located_in vertebral column. (DO)" [http://en.wikipedia.org/wiki/Spondylosis "DO", http://www.mayoclinic.com/health/cervical-spondylosis/DS00697 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000436.htm "DO", http://www.spine-health.com/conditions/back-pain/spondylosis-what-it-actually-means "DO", https://www.spineuniverse.com/conditions/spondylosis/spondylosis "DO"] synonym: "cervical spondylosis" NARROW [] synonym: "lumbarsacral spondylosis" NARROW [] synonym: "lumbar spondylosis with myelopathy" NARROW [] synonym: "lumbosacral spondylosis without myelopathy" NARROW [] synonym: "spondylogenic compression of lumbar spinal cord" NARROW [] synonym: "spondylogenic compression of thoracic spinal cord" NARROW [] synonym: "Spondylosis Deformans" EXACT [] synonym: "spondylosis with myelopathy" EXACT [] synonym: "thoracic or lumbar spondylosis with myelopathy" NARROW [] synonym: "thoracic spondylosis" NARROW [] xref: EFO:0009610 xref: ICD10CM:M47 xref: ICD10CM:M47.9 xref: ICD9CM:721.9 xref: MESH:D055009 xref: MONDO:0002253 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080010 ! bone structure disease [Term] id: DOID:225 name: syndrome def: "A disease characterized by a group of signs and symptoms that occur together and characterize a particular abnormality. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syndrome "DO"] synonym: "symptom cluster" EXACT [] synonym: "symptom clusters" EXACT [] synonym: "syndromes" EXACT [] xref: MESH:D013577 xref: NCI:C28193 is_a: DOID:4 ! disease [Term] id: DOID:2251 name: hypertrophic elongation of cervix xref: ICD10CM:N88.4 xref: ICD9CM:622.6 is_a: DOID:2253 ! cervix disease [Term] id: DOID:2253 name: cervix disease def: "An uterine disease that is located_in the cervix. (DO)" [https://www.mdedge.com/obgmanagement/article/136739/gynecology/2017-update-cervical-disease "DO"] synonym: "cervix diseases" EXACT [] synonym: "uterine cervical disease" EXACT [] synonym: "uterine cervical diseases" EXACT [] xref: MESH:D002577 xref: NCI:C40241 is_a: DOID:345 ! uterine disease [Term] id: DOID:2256 name: osteochondrodysplasia alt_id: OMIA:000187 alt_id: OMIA:001315 alt_id: OMIA:001886 def: "A bone development disease that results_in defective development of cartilage or bone. (DO)" [http://en.wikipedia.org/wiki/Osteochondrodysplasia "DO"] synonym: "cartilage development disorder" EXACT [] synonym: "chondrodysplasia" NARROW [] synonym: "chondrodysplasia, disproportionate short-limbed" NARROW [] synonym: "chondrodystrophic myotonia" EXACT [] synonym: "chondrodystrophy" EXACT [] synonym: "congenital anomaly of cartilage" EXACT [] synonym: "dyschondroplasia" EXACT [] synonym: "dyschondroplasias" EXACT [] synonym: "late onset spondyloepiphyseal dysplasia" EXACT [] synonym: "Late Spondyloepiphyseal Dysplasia" EXACT [] synonym: "Multiple Epiphyseal Dysplasia" EXACT [] synonym: "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities" EXACT [] synonym: "osteochondrodysplasias" EXACT [] synonym: "osteochondrodysplasia syndrome" EXACT [] synonym: "SJA syndrome" EXACT [] synonym: "skeletal dysplasia" EXACT [] synonym: "SOST sclerosing bone dysplasia" EXACT [] synonym: "spondylo-epimetaphyseal dysplasia with myotonia" EXACT [] synonym: "TRIP11-related condition" BROAD [] xref: EFO:0005571 xref: GARD:6051 xref: ICD10CM:Q78.9 xref: ICD9CM:756.4 xref: MESH:D010009 xref: MONDO:0005516 xref: NCI:C34466 xref: NCI:C84978 is_a: DOID:0080006 ! bone development disease is_a: DOID:1222 ! cartilage disease [Term] id: DOID:227 name: ankylosis def: "An arthropathy where there is a stiffness of a joint, the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself. (DO)" [http://en.wikipedia.org/wiki/Ankylosis "DO"] synonym: "ankyloses" EXACT [] xref: ICD10CM:M24.6 xref: ICD9CM:718.5 xref: MESH:D000844 xref: NCI:C171941 is_a: DOID:381 ! arthropathy [Term] id: DOID:2272 name: vulvovaginal candidiasis def: "A candidiasis that involves fungal infection of the vaginal mucous membranes in women caused by Candida albicans. The symptoms include intense vulval pruritus, burning, erythema and dyspareunia associated with a creamy white, curd-like discharge. (DO)" [http://en.wikipedia.org/wiki/Vulvovaginal_candidiasis "DO", http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ "DO"] synonym: "candidal cervix" EXACT [] synonym: "candidal vulvovaginitis" EXACT [] synonym: "candidiasis of vulva and vagina" EXACT [] synonym: "monilial vaginitides" EXACT [] synonym: "Monilial Vaginitis" EXACT [] synonym: "monilial vulvovaginitis" EXACT [] synonym: "vulvovaginal candidiases" EXACT [] synonym: "vulvovaginal moniliases" EXACT [] synonym: "vulvovaginal moniliasis" EXACT [] xref: EFO:0007543 xref: ICD10CM:B37.3 xref: ICD9CM:112.1 xref: MESH:D002181 xref: NCI:C2914 is_a: DOID:1508 ! candidiasis is_a: DOID:2273 ! vulvovaginitis [Term] id: DOID:2273 name: vulvovaginitis def: "A female reproductive system disease that is characterized by inflammation of the vagina and vulva. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26001874 "DO"] synonym: "vulvovaginitides" EXACT [] synonym: "vulvo-vaginitis" EXACT [] xref: EFO:1001240 xref: ICD10CM:N76.0 xref: MESH:D014848 xref: NCI:C35131 is_a: DOID:2170 ! vaginitis is_a: DOID:3901 ! vulvitis [Term] id: DOID:2275 name: pharyngitis def: "An upper respiratory tract disease involving inflammation of the throat or pharynx resulting from bacterial, viral, fungal infections or irritants like pollutants or chemical substances and smoking. The infection is often referred to as sore throat. The symptoms include pain during swallowing, enlarged tonsils coated with a white discharge, runny nose, cough and slight fever. (DO)" [http://en.wikipedia.org/wiki/Pharyngitis "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A5016 "DO"] synonym: "acute pharyngitis" NARROW [] synonym: "acute sore throat" NARROW [] synonym: "chronic pharyn/nasopharyngitis" EXACT [] synonym: "chronic pharyngitis" NARROW [] synonym: "chronic pharyngitis and nasopharyngitis" EXACT [] synonym: "inflamed throat" EXACT [] synonym: "persistent sore throat" EXACT [] synonym: "pharyngeal disorder" EXACT [] synonym: "Pharyngitides" EXACT [] synonym: "Sore Throat" EXACT [] synonym: "Sore throat - chronic" NARROW [] synonym: "sore throats" EXACT [] xref: EFO:0009657 xref: ICD10CM:J02 xref: ICD9CM:462 xref: ICD9CM:472 xref: ICD9CM:478.20 xref: MESH:D010612 xref: NCI:C26850 xref: NCI:C26851 xref: NCI:C34355 is_a: DOID:9004130 ! Pharyngeal Diseases is_a: DOID:9005372 ! Inflammation is_a: DOID:9008680 ! Respiratory Tract Infections is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:2277 name: gonadal disease def: "An endocrine system disease that is located_in the gonads. (DO)" [https://www.nature.com/subjects/gonadal-disorders "DO"] synonym: "gonadal disorder" EXACT [] synonym: "gonadal disorders" EXACT [] xref: MESH:D006058 xref: MIM:PS176400 xref: NCI:C26786 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:2280 name: hidradenitis suppurativa def: "A hidradenitis that is characterized by chronic inflammation of the apocrine sweat glands, has_symptom painful nodules, abscesses, sinus tract formation, scarring, erythema, pruritis, and pain, and has_material_basis_in chronic inflammation of the apocrine sweat glands leading to recurrent folliculitis and an accompanying immune response that worsens inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5402905/ "DO"] synonym: "acne inversa" EXACT [] synonym: "acne inversa, familial" EXACT [] synonym: "acne inversas" EXACT [] synonym: "suppurative hidradenitides" EXACT [] synonym: "suppurative hidradenitis" EXACT [] xref: EFO:1000710 xref: GARD:6658 xref: ICD10CM:L73.2 xref: MESH:D017497 xref: MIM:PS142690 xref: NCI:C128429 is_a: DOID:2282 ! hidradenitis is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9005889 ! Suppuration [Term] id: DOID:2282 name: hidradenitis def: "A sweat gland disease that is characterized by inflammation of the apocrine sweat glands and has_symptom erythema, edema, papules, plaques, pruritis, and pain. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C112190 "DO"] synonym: "hidradenitides" EXACT [] synonym: "hidrosadenitides" EXACT [] synonym: "Hidrosadenitis" EXACT [] synonym: "Hydradenitides" EXACT [] synonym: "Hydradenitis" EXACT [] synonym: "neutrophilic eccrine hidradenitides" EXACT [] synonym: "neutrophilic eccrine hidradenitis" EXACT [] xref: EFO:1000710 xref: ICD9CM:705.83 xref: MESH:D016575 xref: NCI:C112190 is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:2283 name: keratopathy def: "A non-inflammatory disease of the cornea." [] xref: NCI:C27012 is_a: DOID:10124 ! corneal disease [Term] id: DOID:2286 name: capillary lymphangioma synonym: "cutaneous lymphangioma" EXACT [] xref: ICDO:9171/0 xref: NCI:C27509 is_a: DOID:1271 ! capillary disease is_a: DOID:1475 ! lymphangioma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:229 name: female reproductive system disease def: "A reproductive system disease that impairs the ability to reproduce and is located in the uterus, vagina, cervix, ovaries or fallopian tubes. (DO)" [http://en.wikipedia.org/wiki/Female_reproductive_system "DO", http://en.wikipedia.org/wiki/Reproductive_system_disease "DO"] synonym: "Female Genital Disease" EXACT [] synonym: "Female Genital Diseases" EXACT [] synonym: "female genital tract polyp" NARROW [] synonym: "Gynecologic Disease" EXACT [] synonym: "Gynecologic Diseases" EXACT [] synonym: "menopausal or post-menopausal disease" NARROW [] xref: EFO:0008622 xref: EFO:0009549 xref: EFO:0010685 xref: ICD9CM:629.9 xref: MESH:D005831 is_a: DOID:15 ! reproductive system disease is_a: DOID:9002739 ! Female Urogenital Diseases [Term] id: DOID:2297 name: leptospirosis def: "A primary bacterial infectious disease that involves systemic infection, has_material_basis_in Leptospira, which is transmitted by contact with water, food, or soil containing urine from the infected animals. The infection has symptom jaundice, has symptom chills, has symptom fever, has symptom muscle pain, and has symptom hepatomegaly. (DO)" [http://en.wikipedia.org/wiki/Leptospirosis "DO"] synonym: "cane cutter fever" EXACT [] synonym: "Fort Bragg fever" EXACT [] synonym: "leptospira canicola infection" EXACT [] synonym: "leptospira canicola infections" EXACT [] synonym: "leptospiroses" EXACT [] synonym: "leptospirosis canicola" EXACT [] synonym: "leptospirosis canicolas" EXACT [] synonym: "leptospirosis icterohaemorrhagica" EXACT [] synonym: "mud fever" EXACT [] synonym: "nanukayami fever" EXACT [] synonym: "rat catcher's yellows" EXACT [] synonym: "rice field fever" EXACT [] synonym: "spirochetal jaundice" EXACT [] synonym: "Stuttgart disease" EXACT [] xref: EFO:0007344 xref: GARD:7881 xref: ICD10CM:A27 xref: ICD10CM:A27.0 xref: ICD9CM:100 xref: ICD9CM:100.0 xref: MESH:D007922 xref: NCI:C84825 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9002423 ! Spirochaetales Infections is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:230 name: lateral sclerosis alt_id: MIM:611637 alt_id: RDO:0015114 def: "A motor neuron disease characterized by painless but progressive weakness and stiffness of the muscles of the legs. (DO)" [http://en.wikipedia.org/wiki/Primary_lateral_sclerosis "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/645/viewAbstract "DO"] synonym: "adult-onset primary lateral sclerosis" EXACT [] synonym: "lateral scleroses" EXACT [] synonym: "PLSA" EXACT [] synonym: "PLSA1" EXACT [] synonym: "PLS, Adult" EXACT [] synonym: "primary lateral scleroses" EXACT [] synonym: "primary lateral sclerosis" EXACT [] synonym: "primary lateral sclerosis, adult, 1" EXACT [] xref: ICD10CM:G12.23 xref: ICD9CM:335.24 xref: MESH:C566900 xref: NCI:C129933 xref: ORDO:35689 is_a: DOID:231 ! motor neuron disease [Term] id: DOID:2300 name: spondylolysis def: "A bone structure disease that involves a defect located_in lumbar vertebral column. (DO)" [http://en.wikipedia.org/wiki/Spondylolysis "DO", http://my.clevelandclinic.org/disorders/back_pain/hic_spondylolysis.aspx "DO", http://orthoinfo.aaos.org/topic.cfm?topic=a00053 "DO", http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm "DO"] synonym: "Spondylolyses" EXACT [] xref: EFO:0005649 xref: ICD10CM:M43.0 xref: MESH:D013169 xref: NCI:C35034 is_a: DOID:0080010 ! bone structure disease is_a: DOID:2247 ! spondylosis [Term] id: DOID:2301 name: atrophy of prostate xref: ICD9CM:602.2 is_a: DOID:47 ! prostate disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2303 name: stereotypic movement disorder def: "A specific developmental disorder that is characterized by repeated, rhythmic, purposeless movements or activities such as head banging, nail biting, or body rocking. (DO)" [https://www.psychologytoday.com/us/conditions/stereotypic-movement-disorder "DO"] synonym: "body rocking" EXACT [] synonym: "head banging" EXACT [] synonym: "stereotyped repetitive movements" EXACT [] synonym: "stereotypic movement disorders" EXACT [] synonym: "stereotypy habit disorder" EXACT [] xref: ICD10CM:F98.4 xref: ICD9CM:307.3 xref: MESH:D019956 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:231 name: motor neuron disease def: "A neurodegenerative disease that is located_in the motor neurons. (DO)" [http://en.wikipedia.org/wiki/Motor_neuron_disease "DO"] synonym: "familial motor neuron disease" EXACT [] synonym: "Lower Motor Neuron Disease" EXACT [] synonym: "MADRAS MOTOR NEURON DISEASE" NARROW [] synonym: "motor neuron diseases" EXACT [] synonym: "Motor System Disease" EXACT [] synonym: "Motor System Diseases" EXACT [] synonym: "secondary motor neuron disease" EXACT [] synonym: "upper motor neuron disease" EXACT [] xref: EFO:0003782 xref: ICD9CM:335.2 xref: MESH:D016472 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:2312 name: nocardiosis def: "An opportunistic bacterial infectious disease that results_in disseminated infection in immunocompromised hosts, has_material_basis_in Nocardia asteroides. The infection has_symptom pneumonia, has_symptom cellulitis, has_symptom lesions in the brain or meninges, and has_symptom ascending regional lymphadenopathy. (DO)" [http://en.wikipedia.org/wiki/Nocardiosis "DO"] synonym: "Cerebral Nocardioses" EXACT [] synonym: "Cerebral Nocardiosis" EXACT [] synonym: "Nocardia Infection" EXACT [] synonym: "nocardia infections" EXACT [] synonym: "Nocardia infectious disease" EXACT [] synonym: "Nocardioses" EXACT [] synonym: "Primary Cutaneous Nocardioses" EXACT [] synonym: "Primary Cutaneous Nocardiosis" EXACT [] synonym: "pulmonary nocardioses" EXACT [] synonym: "pulmonary nocardiosis" EXACT [] xref: EFO:0007397 xref: GARD:7210 xref: ICD10CM:A43 xref: MESH:D009617 xref: NCI:C171147 is_a: DOID:0050340 ! opportunistic bacterial infectious disease is_a: DOID:9000673 ! Actinomycetales Infections [Term] id: DOID:2314 name: malt worker's lung def: "An extrinsic allergic alveolitis which is caused by inhalation of fungal spores of Aspergillus clavatus and Aspergillus fumigatus from moldy barley. (DO)" [http://en.wikipedia.org/wiki/hypersensitivity_pneumonitis "DO", http://www.mercksource.com/pp/us/cns/cns_hl_dorlands_split.jsp?pg=/ppdocs/us/common/dorlands/dorland/five/000061759.htm "DO"] synonym: "alveolitis due to aspergillus clavatus" EXACT [] synonym: "malt worker lung" EXACT [] synonym: "malt-workers' lung" EXACT [] xref: ICD10CM:J67.4 xref: ICD9CM:495.4 is_a: DOID:841 ! extrinsic allergic alveolitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:2316 name: brain ischemia def: "An ischemia that is characterized by insufficient blood flow to the brain to meet metabolic demand. (DO)" [https://en.wikipedia.org/wiki/Brain_ischemia "DO", https://www.columbianeurosurgery.org/conditions/cerebral-ischemia/ "DO"] synonym: "brain ischemias" EXACT [] synonym: "Cerebral Hypoperfusion" EXACT [] synonym: "cerebral ischemia" EXACT [] synonym: "Cerebral Ischemias" EXACT [] synonym: "Ischaemic encephalopathy" EXACT [] synonym: "ischemic encephalopathies" EXACT [] synonym: "ischemic encephalopathy" EXACT [] xref: EFO:0003883 xref: MESH:D002545 xref: MONDO:0005299 is_a: DOID:326 ! ischemia is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:2320 name: obstructive lung disease def: "A lung disease that is characterized by narrowing of pulmonary airways. (DO)" [https://lunginstitute.com/blog/the-difference-between-obstructive-and-restrictive-lung-disease/ "DO"] synonym: "obstructive lung diseases" EXACT [] synonym: "obstructive pulmonary disease" EXACT [] synonym: "obstructive pulmonary diseases" EXACT [] synonym: "respiratory airway obstruction" EXACT [] xref: MESH:D008173 is_a: DOID:850 ! lung disease [Term] id: DOID:2326 name: gastroenteritis def: "A gastrointestinal system infectious disease that involves inflammation of the lining of the stomach and small and large intestines, which is caused by viruses, bacteria, or parasites. Chemicals and drugs also cause gastroenteritis. The symptoms include diarrhea, loss of appetite, nausea, vomiting, cramps, and discomfort in the abdomen. (DO)" [http://www.merck.com/mmhe/sec09/ch122/ch122a.html "DO"] synonym: "gastroenteritides" EXACT [] synonym: "infectious colitis, enteritis and gastroenteritis" EXACT [] xref: EFO:1001463 xref: ICD10CM:K52.9 xref: MESH:D005759 xref: NCI:C34632 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:2327 name: viral gastritis def: "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by viruses. The symptoms include abdominal pain, indigestion, ulcer formation, abdominal bloating, nausea and vomiting. (DO)" [http://www.merck.com/mmpe/sec02/ch013/ch013c.html "DO"] xref: NCI:C27184 is_a: DOID:4029 ! gastritis is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:2338 name: mandibular cancer def: "A jaw cancer and mandibular disease that affects your lower jawbone. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI%20Thesaurus&code=C35178 "DO"] synonym: "EFO:0007356" EXACT [] synonym: "malignant neoplasm of inferior maxilla" EXACT [MTHICD9_2006:170.1] synonym: "malignant neoplasm of lower Jaw bone" EXACT [NCI2004_11_17:C35178] synonym: "malignant neoplasm of mandible" EXACT [] synonym: "mandible cancer" EXACT [] xref: EFO:0007356 xref: ICD10CM:C41.1 xref: ICD9CM:170.1 xref: NCI:C35178 is_a: DOID:1862 ! jaw cancer is_a: DOID:9005446 ! Mandibular Neoplasms [Term] id: DOID:2339 name: Crouzon syndrome alt_id: MIM:123500 def: "A craniosynostosis that involves premature fusion of certain skull bones. This early fusion prevents the skull from growing normally and affects the shape of the head and face. The disease is associated with mutations in the FGFR2 gene. (DO)" [http://en.wikipedia.org/wiki/Crouzon_syndrome "DO", http://ghr.nlm.nih.gov/condition/crouzon-syndrome "DO", https://www.faces-cranio.org/crouzon "DO"] synonym: "CFD1" EXACT [] synonym: "craniofacial dysarthroses" EXACT [] synonym: "Craniofacial Dysarthrosis" EXACT [] synonym: "craniofacial dysostoses" EXACT [] synonym: "Craniofacial Dysostosis" EXACT [] synonym: "Craniofacial Dysostosis Syndrome" EXACT [] synonym: "Craniofacial Dysostosis Syndromes" EXACT [] synonym: "Craniofacial Dysostosis Type 1" EXACT [] synonym: "Craniofacial Dysostosis, Type I" EXACT [] synonym: "Crouzon's disease" EXACT [] synonym: "Crouzon Craniofacial Dysostosis" EXACT [] synonym: "Crouzon Disease" EXACT [] synonym: "Crouzons disease" EXACT [] xref: GARD:6206 xref: ICD10CM:Q75.1 xref: MESH:D003394 xref: NCI:C84653 is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:234 name: colon adenocarcinoma def: "A colon carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of colon" EXACT [] synonym: "adenocarcinoma of the colon" RELATED [] synonym: "colonic adenocarcinoma" EXACT [] synonym: "EFO:1001949" EXACT [] xref: EFO:0000362 xref: EFO:1001949 xref: NCI:C120044 xref: NCI:C4349 is_a: DOID:0050861 ! colorectal adenocarcinoma is_a: DOID:0050913 ! large intestine adenocarcinoma is_a: DOID:1520 ! colon carcinoma [Term] id: DOID:2340 name: craniosynostosis alt_id: MIM:123100 alt_id: OMIA:001551 def: "A synostosis that results_in premature fusion located_in skull. (DO)" [http://en.wikipedia.org/wiki/Craniosynostosis "DO", http://www.mayoclinic.com/health/craniosynostosis/DS00959 "DO", http://www.ninds.nih.gov/disorders/craniosynostosis/craniosynostosis.htm "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001590.htm "DO"] synonym: "Acrocephaly" EXACT [] synonym: "Brachycephaly" EXACT [] synonym: "craniostenoses" EXACT [] synonym: "Craniostenosis" EXACT [] synonym: "Craniosynostose" EXACT [] synonym: "craniosynostoses" EXACT [] synonym: "craniosynostoses type 1" EXACT [] synonym: "CRANIOSYNOSTOSIS 1" EXACT [] synonym: "CRANIOSYNOSTOSIS, NONSPECIFIC" NARROW [] synonym: "Craniosynostosis, nonsyndromic unicoronal" EXACT [] synonym: "Craniosynostosis Plagiocephaly" EXACT [] synonym: "craniosynostosis type 1" EXACT [] synonym: "CRS" EXACT [] synonym: "CRS1" EXACT [] synonym: "FGFR2 RELATED CRANIOSYNOSTOSIS" NARROW [] synonym: "lambdoidal craniosynostoses" EXACT [] synonym: "Lambdoidal Craniosynostosis" EXACT [] synonym: "lambdoid synostoses" EXACT [] synonym: "Lambdoid Synostosis" EXACT [] synonym: "Metopic Synostoses" EXACT [] synonym: "Metopic Synostosis" EXACT [] synonym: "Oxycephaly" EXACT [] synonym: "premature closure of cranial sutures" EXACT [] synonym: "Sagittal Synostoses" EXACT [] synonym: "Sagittal Synostosis" EXACT [] synonym: "Scaphocephaly" EXACT [] synonym: "SYNDROMIC CRANIOSYNOSTOSIS" NARROW [] synonym: "Synostotic Anterior Plagiocephaly" EXACT [] synonym: "Synostotic Plagiocephaly" EXACT [] synonym: "Synostotic Posterior Plagiocephaly" EXACT [] synonym: "trigonocephaly" EXACT [] synonym: "unilateral coronal synostoses" EXACT [] synonym: "unilateral coronal synostosis" EXACT [] xref: EFO:0009141 xref: GARD:6209 xref: ICD10CM:Q75.0 xref: MESH:D003398 xref: MIM:PS123100 xref: NCI:C84655 xref: ORDO:1531 is_a: DOID:11971 ! synostosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:2344 name: polyclonal hypergammaglobulinemia xref: ICD10CM:D89.0 xref: ICD9CM:273.0 xref: NCI:C35885 is_a: DOID:2345 ! plasma protein metabolism disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2345 name: plasma protein metabolism disease def: "An inherited metabolic disorder that involves plasma protein metabolism malfunction. (DO)" [http://en.wikipedia.org/wiki/Blood_protein "DO"] xref: ICD9CM:273.8 is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2346 name: monoclonal paraproteinemia synonym: "monoclonal paraproteinaemia" EXACT [] xref: ICD9CM:273.1 xref: NCI:C35878 is_a: DOID:2345 ! plasma protein metabolism disease [Term] id: DOID:2347 name: generalized atherosclerosis synonym: "generalised atherosclerosis" EXACT [] synonym: "generalized and unspecified atherosclerosis" EXACT [] xref: ICD10CM:I70.91 xref: ICD9CM:440.9 xref: NCI:C35767 is_a: DOID:1936 ! atherosclerosis created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:2348 name: arteriosclerotic cardiovascular disease synonym: "atherosclerotic cardiovascular disease" RELATED [] synonym: "cardiovascular arteriosclerosis" EXACT [] synonym: "cardiovascular arteriosclerosis unspecified" RELATED [] xref: NCI:C34403 is_a: DOID:2349 ! arteriosclerosis created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:2349 name: arteriosclerosis def: "An artery disease that is characterized by a thickening and hardening of arterial walls in the arteries. (DO)" [http://en.wikipedia.org/wiki/Arteriosclerosis "DO"] synonym: "arterioscleroses" EXACT [] synonym: "arteriosclerotic vascular disease" EXACT [] xref: EFO:0009086 xref: MESH:D001161 xref: NCI:C34398 is_a: DOID:0050828 ! artery disease is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:235 name: colonic benign neoplasm def: "An intestinal benign neoplasm that is located_in the colon. (DO)" [http://en.wikipedia.org/wiki/Benign_tumor "DO"] synonym: "colonic mass" EXACT [] xref: NCI:C2953 is_a: DOID:1475 ! lymphangioma is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:9002928 ! Colonic Neoplasms created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:2351 name: iron metabolism disease def: "Disorders in the processing of iron in the body: its absorption, transport, storage, and utilization. (From Mosby's Medical, Nursing, & Allied Health Dictionary, 4th ed)" [MESH:D019189] synonym: "disorder of iron metabolism" EXACT [] synonym: "iron disorder" EXACT [] synonym: "iron metabolism disorder" EXACT [] synonym: "iron metabolism disorders" EXACT [] xref: ICD9CM:275.0 xref: MESH:D019189 is_a: DOID:0050032 ! mineral metabolism disease [Term] id: DOID:2352 name: hemochromatosis def: "A metal metabolism disorder characterized by the accumulation of iron in various organs of the body. (DO)" [http://en.wikipedia.org/wiki/HFE_hereditary_haemochromatosis "DO", http://ghr.nlm.nih.gov/condition/hemochromatosis "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/13/viewAbstract "DO"] synonym: "bronzed cirrhoses" EXACT [] synonym: "bronzed cirrhosis" EXACT [] synonym: "Bronze Diabetes" EXACT [] synonym: "Familial Hemochromatoses" EXACT [] synonym: "Familial Hemochromatosis" EXACT [] synonym: "Genetic Hemochromatoses" EXACT [] synonym: "Genetic Hemochromatosis" EXACT [] synonym: "Haemochromatoses" EXACT [] synonym: "Haemochromatosis" EXACT [] synonym: "Hemochromatose" EXACT [] synonym: "Hemochromatoses" EXACT [] synonym: "HEMOCHROMATOSIS, HEREDITARY" EXACT [] synonym: "HEMOCHROMATOSIS, JUVENILE, DIGENIC" EXACT [] synonym: "HFE" EXACT [] synonym: "HFE INTRONIC POLYMORPHISM" RELATED [] synonym: "HFE POLYMORPHISM" RELATED [] synonym: "HH" EXACT [] synonym: "Iron Storage Disorder" EXACT [] synonym: "Iron Storage Disorders" EXACT [] synonym: "Pigmentary Cirrhoses" EXACT [] synonym: "Pigmentary Cirrhosis" EXACT [] synonym: "Primary Hemochromatosis" EXACT [] synonym: "Troisier Hanot Chauffard Syndrome" EXACT [] synonym: "von Recklenhausen Applebaum disease" EXACT [] xref: EFO:1000642 xref: ICD10CM:E83.11 xref: MESH:D006432 xref: MIM:PS235200 xref: NCI:C84481 xref: ORDO:139498 is_a: DOID:896 ! metal metabolism disorder is_a: DOID:9005725 ! Iron Overload [Term] id: DOID:2354 name: myelophthisic anemia def: "An aplastic anemia that is characterized by displacement of hemopoietic bone-marrow tissue either by fibrosis, tumors or granulomas. (DO)" [http://en.wikipedia.org/wiki/Myelophthisic_anemia "DO"] synonym: "leukoerythroblastic anemia" EXACT [] synonym: "leukoerythroblastic anemias" EXACT [] synonym: "leukoerythroblastosis" EXACT [] synonym: "myelophthisic anemias" EXACT [] synonym: "myelophthisis" RELATED [] xref: EFO:0007388 xref: ICD10CM:D61.82 xref: MESH:D000750 xref: NCI:C36218 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:12449 ! aplastic anemia [Term] id: DOID:2355 name: anemia def: "A hematopoietic system disease that is characterized by a decrease in the normal number of red blood cells. (DO)" [http://en.wikipedia.org/wiki/Anemia "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/anemia/ "DO"] synonym: "anaemia" EXACT [] synonym: "anemia due to enzyme disorder" NARROW [] synonym: "anemias" EXACT [] synonym: "HEMOGLOBIN HINSDALE" RELATED [] xref: EFO:0004272 xref: EFO:0009529 xref: ICD10CM:D64.9 xref: ICD9CM:285.9 xref: MESH:D000740 xref: NCI:C2869 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:2361 name: macrocytic anemia def: "An anemia that is characterized by the production of abnormally large red blood cells and mean corpuscular volume (MCV) (more than 100 fL). (DO)" [https://my.clevelandclinic.org/health/diseases/23017-macrocytic-anemia "DO", MESH:D000748] synonym: "macrocytic anaemia" EXACT [] synonym: "macrocytic anemias" EXACT [] xref: MESH:D000748 xref: MONDO:0002281 xref: NCI:C34381 is_a: DOID:2355 ! anemia [Term] id: DOID:2364 name: post-thrombotic syndrome alt_id: MESH:D011186 def: "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis. (DO)" [http://en.wikipedia.org/wiki/Post-thrombotic_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21239797 "DO"] synonym: "postphlebetic syndrome with inflammation" EXACT [] synonym: "Postphlebetic syndrome with ulcer" EXACT [] synonym: "Postphlebetic syndrome with ulcer and inflammation" EXACT [] synonym: "Postphlebitic Disease" EXACT [] synonym: "postphlebitic diseases" EXACT [] synonym: "Postphlebitic Syndrome" EXACT [] synonym: "postphlebitic syndromes" EXACT [] synonym: "Postphlebitic Ulcer" EXACT [] synonym: "postphlebitic ulcers" EXACT [] synonym: "postthrombotic syndrome" EXACT [] synonym: "venous stasis syndrome" EXACT [] synonym: "venous stress disorder" EXACT [] xref: EFO:0007452 xref: EFO:1001405 xref: ICD10CM:I87.0 xref: ICD9CM:459.1 xref: MESH:D054070 is_a: DOID:10128 ! venous insufficiency is_a: DOID:225 ! syndrome is_a: DOID:864 ! phlebitis is_a: DOID:9003871 ! Venous Thrombosis [Term] id: DOID:2365 name: West Nile encephalitis def: "A viral infectious disease that results in inflammation located in brain, has_material_basis_in West Nile virus, which is transmitted_by Culex, Aedes, or Anopheles species of mosquitoes. The infection has_symptom high fever, has_symptom headache, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, has_symptom muscle weakness, has_symptom vision loss, has_symptom numbness, and has_symptom paralysis. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO", http://www.cdc.gov/ncidod/dvbid/westnile/wnv_factsheet.htm "DO"] synonym: "West Nile fever encephalitis" EXACT [] synonym: "West Nile fever with encephalitis" EXACT [] xref: EFO:0007545 xref: GARD:9959 xref: ICD10CM:A92.31 xref: ICD9CM:066.41 is_a: DOID:2366 ! West Nile fever created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:2366 name: West Nile fever alt_id: MIM:610379 def: "A viral infectious disease that results_in infection, has_material_basis_in West Nile virus, which is transmitted_by Culex and transmitted_by Aedes mosquitoes. The infection has_symptom fever, has_symptom sore throat, has_symptom headache, has_symptom body ache, has_symptom nausea, has_symptom maculopapular rash and has_symptom vomiting. (DO)" [http://www.cdc.gov/ncidod/eid/vol5no5/hubalek.htm "DO", http://www.cfsph.iastate.edu/FastFacts/pdfs/west_nile_fever_F.pdf "DO"] synonym: "West Nile fever meningitis" EXACT [] synonym: "West Nile Fever meningoencephalitis" EXACT [] synonym: "West Nile Fever Myelitis" EXACT [] synonym: "WEST NILE VIRUS, SUSCEPTIBILITY TO" EXACT [] synonym: "WNV, susceptibility to" RELATED [] xref: ICD10CM:A92.3 xref: ICD9CM:066.4 xref: MESH:D014901 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9008926 ! Arbovirus Encephalitis [Term] id: DOID:2367 name: neuroaxonal dystrophy alt_id: OMIA:000715 def: "A nonspecific term referring both to the pathologic finding of swelling of distal portions of axons in the brain and to disorders which feature this finding. Neuroaxonal dystrophy is seen in various genetic diseases, vitamin deficiencies, and aging. Infantile neuroaxonal dystrophy is an autosomal recessive disease characterized by arrested psychomotor development at 6 months to 2 years of age, ataxia, brain stem dysfunction, and quadriparesis. Juvenile and adult forms also occur. Pathologic findings include brain atrophy and widespread accumulation of axonal spheroids throughout the neuroaxis, peripheral nerves, and dental pulp. (From Davis & Robertson, Textbook of Neuropathology, 2nd ed, p927)" [MESH:D019150] synonym: "adult neuroaxonal dystrophy" EXACT [] synonym: "juvenile neuroaxonal dystrophy" EXACT [] synonym: "late infantile neuroaxonal dystrophy" EXACT [] synonym: "neuroaxonal dystrophies" EXACT [] synonym: "PLA2G6-associated neurodegeneration" BROAD [] synonym: "PLA2G6-related NBIA" BROAD [] xref: MESH:D019150 xref: NCI:C161542 is_a: DOID:1443 ! cerebral degeneration [Term] id: DOID:2368 name: gangliosidosis def: "A sphingolipidosis that is characterized by the accumulation of lipids known as gangliosides. (DO)" [https://en.wikipedia.org/wiki/Gangliosidosis "DO"] synonym: "ganglioside storage disease" EXACT [] synonym: "ganglioside storage diseases" EXACT [] synonym: "ganglioside storage disorder" EXACT [] synonym: "ganglioside storage disorders" EXACT [] synonym: "gangliosidoses" EXACT [] xref: GARD:12510 xref: ICD10CM:E75.10 xref: MESH:D005733 xref: ORDO:309144 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:2373 name: hereditary elliptocytosis def: "A hematopoietic system disease characterized by oval or elliptical red blood cells, slight or absent hemolysis with little or no anemia; splenomegaly is often present. (DO)" [http://en.wikipedia.org/wiki/Hereditary_elliptocytosis "DO", http://www.merckmanuals.com/professional/hematology_and_oncology/anemias_caused_by_hemolysis/hereditary_spherocytosis_and_hereditary_elliptocytosis.html "DO", https://research.nhgri.nih.gov/RBCmembrane/ "DO"] synonym: "congenital elliptocytosis" EXACT [] synonym: "ELLIPTOCYTOSIS" BROAD [] synonym: "Hereditary Elliptocytoses" EXACT [] synonym: "Hereditary Ovalocytoses" EXACT [] synonym: "Hereditary Ovalocytosis" EXACT [] synonym: "hereditary stomatocytic elliptocytosis" EXACT [] synonym: "ovalocytosis" EXACT [] xref: GARD:6621 xref: ICD10CM:D58.1 xref: ICD9CM:282.1 xref: MESH:D004612 xref: NCI:C35882 xref: ORDO:288 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:2377 name: multiple sclerosis def: "A demyelinating disease that involves damage to the fatty myelin sheaths around the axons of the brain and spinal cord resulting in demyelination and scarring. (DO)" [http://en.wikipedia.org/wiki/Multiple_sclerosis "DO", https://ghr.nlm.nih.gov/condition/multiple-sclerosis "DO"] synonym: "acute fulminating multiple sclerosis" EXACT [] synonym: "disseminated sclerosis" EXACT [] synonym: "generalized multiple sclerosis" EXACT [] synonym: "insular sclerosis" EXACT [] synonym: "MS" EXACT [] synonym: "MS (Multiple Sclerosis)" EXACT [] synonym: "MS1" RELATED [] synonym: "MS2" RELATED [] synonym: "MS3" RELATED [] synonym: "MS4" RELATED [] synonym: "MS5" RELATED [] synonym: "multiple sclerosis modifier of disease progression" RELATED [] synonym: "multiple sclerosis, susceptibility to" RELATED [] synonym: "multiple sclerosis, susceptibility to, 1" RELATED [] synonym: "multiple sclerosis, susceptibility to, 2" RELATED [] synonym: "multiple sclerosis, susceptibility to, 3" RELATED [] synonym: "multiple sclerosis, susceptibility to, 4" RELATED [] synonym: "multiple sclerosis, susceptibility to, 5" RELATED [] xref: EFO:0003885 xref: GARD:10255 xref: ICD10CM:G35 xref: ICD9CM:340 xref: MESH:D009103 xref: MIM:126200 xref: MIM:612594 xref: MIM:612595 xref: MIM:612596 xref: MIM:614810 xref: MIM:PS126200 xref: MONDO:0005301 xref: NCI:C3243 is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS [Term] id: DOID:2378 name: relapsing-remitting multiple sclerosis def: "A multiple sclerosis that is characterized by relapse (attacks of symptom flare-ups) followed by remission (periods of recovery). Symptoms may vary from mild to severe, and relapses and remissions may last for days or months. More than 80 percent of people who have MS begin with relapsing-remitting cycles. (DO)" [http://www.mayoclinic.org/multiple-sclerosis/types.html "DO"] synonym: "Acute Relapsing Multiple Sclerosis" EXACT [] synonym: "Relapsing-remitting MS" EXACT [] synonym: "RRMS" EXACT [] xref: EFO:0003929 xref: MESH:D020529 xref: NCI:C165675 is_a: DOID:2377 ! multiple sclerosis [Term] id: DOID:238 name: pupil disease def: "Conditions which affect the structure or function of the pupil of the eye, including disorders of innervation to the pupillary constrictor or dilator muscles, and disorders of pupillary reflexes." [MESH:D011681] synonym: "Afferent Pupillary Defect" EXACT [] synonym: "afferent pupillary defects" EXACT [] synonym: "Deformed Pupil" EXACT [] synonym: "deformed pupils" EXACT [] synonym: "Efferent Pupillary Defect" EXACT [] synonym: "efferent pupillary defects" EXACT [] synonym: "Fixed Pupil" EXACT [] synonym: "Fixed Pupils" EXACT [] synonym: "Keyhole Pupil" EXACT [] synonym: "Keyhole Pupils" EXACT [] synonym: "Marcus Gunn Pupil" EXACT [] synonym: "Non Syphilitic Argyll Robertson Pupil" EXACT [] synonym: "Occluded Pupil" EXACT [] synonym: "Occluded Pupils" EXACT [] synonym: "Pupil Disorder" EXACT [] synonym: "Pupil Disorders" EXACT [] synonym: "Pupillary Anomalies" EXACT [] synonym: "Pupillary Anomaly" EXACT [] synonym: "Pupillary Disorder" EXACT [] synonym: "Pupillary Disorders" EXACT [] synonym: "Pupillary Occlusion" EXACT [] synonym: "Pupillary Occlusions" EXACT [] synonym: "Pupillary Paralyses" EXACT [] synonym: "Pupillary Paralysis" EXACT [] synonym: "Pupillary Sector Paralyses" EXACT [] synonym: "Pupillary Sector Paralysis" EXACT [] synonym: "Pupillary Sphincter Rupture" EXACT [] synonym: "Pupillary Sphincter Ruptures" EXACT [] synonym: "Pupil Malformation" EXACT [] synonym: "Pupil Malformations" EXACT [] synonym: "Pupil Reaction Absent" EXACT [] synonym: "Reaction Absents, Pupil" EXACT [] synonym: "Sector Pupil Palsy" EXACT [] synonym: "Wernicke's hemianopic pupil" EXACT [] synonym: "Wernicke hemianopic pupil" EXACT [] synonym: "Wernickes hemianopic pupil" EXACT [] xref: MESH:D011681 is_a: DOID:5614 ! eye disease is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:2382 name: kernicterus def: "A brain disease that is characterized by hyperbilirubinemia-induced brain dysfunction. (DO)" [https://en.wikipedia.org/wiki/Kernicterus "DO", https://www.nlm.nih.gov/medlineplus/ency/article/007309.htm "DO"] synonym: "Bilirubin Encephalopathies" EXACT [] synonym: "Bilirubin Encephalopathy" EXACT [] synonym: "Hyperbilirubinemic Encephalopathies" EXACT [] synonym: "Hyperbilirubinemic Encephalopathy" EXACT [] xref: EFO:1001002 xref: GARD:6830 xref: ICD10CM:P57 xref: MESH:D007647 xref: NCI:C84799 is_a: DOID:1098 ! hemolytic disease of the fetus is_a: DOID:2741 ! bilirubin metabolic disorder is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:2383 name: neonatal jaundice def: "A pigmentation disease characterized by a high level of bilirubin in the blood, causing a yellowing of the skin and other tissues of a newborn infant. (DO)" [http://en.wikipedia.org/wiki/Neonatal_jaundice "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001559.htm "DO"] synonym: "icterus gravis neonatorum" EXACT [] synonym: "neonatal icterus" EXACT [] synonym: "physiological neonatal jaundice" EXACT [] synonym: "severe jaundice in neonate" EXACT [] synonym: "severe jaundice in newborn" EXACT [] xref: EFO:1000739 xref: ICD10CM:P59.9 xref: MESH:D007567 xref: NCI:C99246 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9002532 ! Neonatal Hyperbilirubinemia [Term] id: DOID:2384 name: Wernicke encephalopathy def: "A brain disease that is characterized by the presence of neurological symptoms of ophthalmoplegia, ataxia, and confusion caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). (DO)" [https://en.wikipedia.org/wiki/Wernicke%27s_encephalopathy "DO"] synonym: "Cerebral Beriberi" EXACT [] synonym: "Encephalopathy, Wernickes" EXACT [] synonym: "Gayet Wernicke Encephalopathy" EXACT [] synonym: "Wernicke's Disease" EXACT [] synonym: "Wernicke's Encephalopathy" EXACT [] synonym: "Wernicke's Superior Hemorrhagic Polioencephalitis" EXACT [] synonym: "Wernicke's Syndrome" EXACT [] synonym: "Wernicke Disease" EXACT [] synonym: "Wernicke Encephalopathies" EXACT [] synonym: "Wernicke Superior Hemorrhagic Polioencephalitis" EXACT [] synonym: "Wernicke Syndrome" EXACT [] xref: EFO:1001241 xref: ICD10CM:E51.2 xref: MESH:D014899 is_a: DOID:0070313 ! thiamine deficiency disease is_a: DOID:9004354 ! Alcohol-Related Disorders is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:2388 name: renal artery disease def: "Pathological processes in any of the renal blood vessels" [] synonym: "renal vascular disease" EXACT [] synonym: "renal vascular diseases" EXACT [] synonym: "renal vascular disorder" EXACT [] synonym: "renal vascular sclerosis" RELATED [] synonym: "vascular disorder of kidney" EXACT [] xref: ICD9CM:593.81 xref: NCI:C35338 xref: RDO:9000083 is_a: DOID:0050828 ! artery disease is_a: DOID:341 ! peripheral vascular disease is_a: DOID:557 ! kidney disease [Term] id: DOID:2392 name: glandular cystitis synonym: "cystitis glandularis" RELATED [] xref: NCI:C39860 xref: RDO:9002680 is_a: DOID:1680 ! chronic cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:2394 name: ovarian cancer alt_id: MIM:607893 def: "A female reproductive organ cancer that is located_in the ovary. (DO)" [http://www.cancer.gov/dictionary?CdrID=445074 "DO"] synonym: "cancer of ovary" EXACT [] synonym: "FAMILIAL OVARIAN CANCER" NARROW [] synonym: "malignant ovarian tumor" EXACT [] synonym: "malignant tumour of ovary" EXACT [] synonym: "ovarian cancers" EXACT [] synonym: "ovarian cancer, susceptibility to, 1" RELATED [] synonym: "ovary cancer" EXACT [] synonym: "ovary cancers" EXACT [] synonym: "OVCAS1" RELATED [] synonym: "primary ovarian cancer" EXACT [] xref: GARD:7295 xref: ICD10CM:C56 xref: ICD9CM:183.0 xref: MIM:167000 xref: NCI:C4984 xref: NCI:C7431 xref: ORDO:213500 xref: ORDO:213517 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:170 ! endocrine gland cancer is_a: DOID:9002762 ! Ovarian Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:240 name: iris disease def: "Diseases, dysfunctions, or disorders of or located in the iris." [] synonym: "Iris Diseases" EXACT [] xref: MESH:D007499 xref: NCI:C34737 is_a: DOID:3480 ! uveal disease [Term] id: DOID:2401 name: clitoris cancer def: "A vulva cancer that is located_in the clitoris. (DO)" [https://scialert.net/fulltext/?doi=ijcr.2008.110.126 "DO"] synonym: "carcinoma of clitoris" EXACT [] synonym: "Clitoral Ca" EXACT [] synonym: "clitoral cancer" EXACT [] synonym: "malignant neoplasm of clitoris" EXACT [] synonym: "malignant tumor of clitoris" EXACT [] xref: ICD10CM:C51.2 xref: ICD9CM:184.3 xref: NCI:C3557 xref: NCI:C9362 is_a: DOID:1245 ! vulva cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2409 name: rhinosporidiosis def: "A parasitic Ichthyosporea infectious disease that is a chronic granulomatous infection of the mucous membranes caused by the parasite Rhinosporidium seeberi, which manifests as vascular friable polyps that arise from the nasal mucosa or external structures of the eye. Disease of the skin, mouth, upper airways, ear, genitals, and rectum has also been observed. (DO)" [https://www.sciencedirect.com/science/article/abs/pii/S2213219817305093?via%3Dihub "DO"] synonym: "infection by Rhinosporidium seeberi" EXACT [] synonym: "rhinosporidioses" EXACT [] xref: EFO:0007471 xref: ICD10CM:B48.1 xref: ICD9CM:117.0 xref: MESH:D012227 is_a: DOID:0050291 ! parasitic Ichthyosporea infectious disease is_a: DOID:9008335 ! Mesomycetozoea Infections [Term] id: DOID:2410 name: skin granular cell tumor synonym: "granular cell neoplasm of the skin" EXACT [] synonym: "granular cell tumor of skin" EXACT [] synonym: "granular cell tumour of skin" EXACT [] synonym: "skin granular cell tumour" EXACT [] xref: NCI:C5617 is_a: DOID:2411 ! granular cell tumor is_a: DOID:3165 ! skin benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2411 name: granular cell tumor def: "Unusual tumor affecting any site of the body, but most often encountered in the head and neck. Considerable debate has surrounded the histogenesis of this neoplasm; however, it is considered to be a myoblastoma of, usually, a benign nature. It affects women more often than men. When it develops beneath the epidermis or mucous membrane, it can lead to proliferation of the squamous cells and mimic squamous cell carcinoma." [MESH:D016586] synonym: "EFO:1000284" EXACT [] synonym: "granular cell myoblastoma" EXACT [] synonym: "granular cell myoblastomas" EXACT [] synonym: "granular cell tumors" EXACT [] synonym: "neoplasm of granular cell" EXACT [] xref: EFO:1000284 xref: GARD:9618 xref: ICDO:9580/0 xref: MESH:D016586 xref: NCI:C158784 xref: NCI:C3474 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:9003582 ! Muscle Tissue Neoplasms [Term] id: DOID:2425 name: cutaneous ganglioneuroma synonym: "ganglioneuroma of skin" EXACT [] xref: NCI:C4481 is_a: DOID:3165 ! skin benign neoplasm created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:2426 name: gangliocytoma def: "A central nervous system benign neoplasm that has_material_basis_in mature neurons, and is classified by the absence of neoplastic glial cells. (DO)" [https://link.springer.com/chapter/10.1007/978-1-4419-1062-2_18 "DO", https://radiopaedia.org/articles/gangliocytoma "DO", https://rarediseases.info.nih.gov/diseases/10638/gangliocytoma "DO"] synonym: "gangliocytoma of central nervous system" EXACT [] xref: GARD:10638 xref: ICDO:9492/0 xref: NCI:C6934 is_a: DOID:0060090 ! central nervous system benign neoplasm [Term] id: DOID:2430 name: skin glomus tumor synonym: "Glomus skin neoplasm" EXACT [NCI2004_11_17:C4491] synonym: "Glomus tumor of skin" EXACT [SNOMEDCT_2005_07_31:254795008] synonym: "Glomus tumour of skin" EXACT [] synonym: "skin glomus tumour" EXACT [] xref: NCI:C4491 xref: RDO:9003005 is_a: DOID:2431 ! glomus tumor is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:2431 name: glomus tumor def: "A hemangiopericytic tumor that is a mesenchymal neoplasm composed of cells that closely resemble the modified smooth muscle cells of the normal glomus body. (DO)" [https://en.wikipedia.org/wiki/Glomus_tumor "DO"] synonym: "Glomangioma" EXACT [] synonym: "Glomangiomas" EXACT [] synonym: "glomus neoplasm" EXACT [] synonym: "Glomus Tumors" EXACT [] synonym: "glomus tumour" EXACT [] xref: ICDO:8711/0 xref: MESH:D005918 xref: NCI:C3060 xref: ORDO:391651 is_a: DOID:3850 ! hemangiopericytic tumor is_a: DOID:9006948 ! Vascular Tissue Neoplasms [Term] id: DOID:2433 name: epidermal appendage tumor synonym: "neoplasm of skin with adnexal differentiation" EXACT [] synonym: "neoplasm of the skin appendage" EXACT [] synonym: "skin appendage tumour" EXACT [] xref: NCI:C4463 xref: RDO:9004813 is_a: DOID:3165 ! skin benign neoplasm created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:2435 name: skin glomangioma synonym: "cutaneous glomangioma" EXACT [] synonym: "glomangioma of skin" EXACT [] xref: NCI:C6750 is_a: DOID:2436 ! glomangioma is_a: DOID:3165 ! skin benign neoplasm created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:2436 name: glomangioma alt_id: DOID:9003557 alt_id: MIM:138000 def: "A benign perivascular tumor that is a morphologic variant of the glomus tumor characterized by the presence of dilated veins, surrounded by small clusters of glomus cells. Glomangiomas are most often present in patients with multiple lesions. (DO)" [https://medical-dictionary.thefreedictionary.com/glomangioma, https://pubmed.ncbi.nlm.nih.gov/21163162/ "DO"] synonym: "Glomangiomas, Multiple" EXACT [] synonym: "Glomus Tumors, Multiple" EXACT [] synonym: "Glomus Vagale Tumors" EXACT [] synonym: "Glomuvenous Malformation" EXACT [] synonym: "Glomuvenous malformations" EXACT [] synonym: "GVM" EXACT [] synonym: "Venous Malformations With Glomus Cells" EXACT [] synonym: "VMGLOM" EXACT [] xref: ICDO:8712/0 xref: MESH:C536827 xref: NCI:C4222 xref: ORDO:83454 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050773 ! paraganglioma is_a: DOID:2431 ! glomus tumor is_a: DOID:5238 ! benign perivascular tumor created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:2438 name: dermis tumor synonym: "dermis tumour" EXACT [] synonym: "neoplasm of dermis" EXACT [] synonym: "tumor of dermis" EXACT [] synonym: "tumour of dermis" EXACT [] xref: NCI:C4475 is_a: DOID:3165 ! skin benign neoplasm created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:2441 name: frontal sinus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the frontal sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22169549 "DO"] synonym: "Epidermoid carcinoma of the Frontal sinus" EXACT [] xref: NCI:C6067 xref: RDO:9002360 is_a: DOID:1360 ! frontal sinus cancer is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:2444 name: hyperpituitarism def: "Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA." [MESH:D006964] synonym: "Inappropriate Follicle Stimulating Hormone Secretion" EXACT [] synonym: "Inappropriate FSH Secretion Syndrome" EXACT [] synonym: "Inappropriate LH Secretion Syndrome" EXACT [] synonym: "Inappropriate Luteinizing Hormone Secretion" EXACT [] synonym: "Inappropriate Thyroid Stimulating Hormone Secretion" EXACT [] synonym: "Inappropriate TSH Secretion Syndrome" EXACT [] synonym: "Pituitary FSH Hypersecretion" EXACT [] synonym: "Pituitary LH Hypersecretion" EXACT [] synonym: "Pituitary TSH Hypersecretion" EXACT [] xref: EFO:1000973 xref: MESH:D006964 is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:2449 name: acromegaly def: "A disease of metabolism that has_material_basis_in excessive growth hormone production which results_in enlargement located_in limb. (DO)" [http://en.wikipedia.org/wiki/Acromegaly "DO", http://www.mayoclinic.com/health/acromegaly/DS00478 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000321.htm "DO"] synonym: "Inappropriate GH Secretion Syndrome (Acromegaly)" EXACT [] synonym: "Inappropriate Growth Hormone Secretion Syndrome (Acromegaly)" EXACT [] synonym: "somatotropin hypersecretion syndrome (acromegaly)" EXACT [] synonym: "somatotropin hypersecretion syndromes (acromegaly)" EXACT [] xref: EFO:1001485 xref: GARD:5725 xref: MESH:D000172 xref: NCI:C84533 is_a: DOID:2444 ! hyperpituitarism is_a: DOID:9007819 ! Endocrine Bone Diseases [Term] id: DOID:2450 name: central retinal vein occlusion def: "An obstruction occurring within the central retinal vein, which is the sole venous drainage source of the retina." [] synonym: "Central retinal vein thrombosis" EXACT [] synonym: "CRVO" EXACT [] synonym: "CRVT" EXACT [] xref: ICD10CM:H34.81 xref: ICD9CM:362.35 xref: NCI:C118859 xref: RDO:9000121 is_a: DOID:1727 ! retinal vein occlusion [Term] id: DOID:2451 name: protein S deficiency def: "A thrombophilia that is characterized by increased risk of developing abnormal blood clots. (DO)" [https://medlineplus.gov/genetics/condition/protein-s-deficiency/ "DO"] synonym: "hereditary thrombophilia due to protein S deficiency" EXACT [] synonym: "protein S deficiencies" EXACT [] synonym: "protein S deficiency disease" EXACT [] xref: GARD:4524 xref: MESH:D018455 xref: NCI:C99026 is_a: DOID:2452 ! thrombophilia is_a: DOID:620 ! blood protein disease [Term] id: DOID:2452 name: thrombophilia def: "A blood coagulation disease that is characterized by an increased tendency to form clots. (DO)" [https://en.wikipedia.org/wiki/Thrombophilia "DO", https://www.nhs.uk/conditions/thrombophilia/ "DO"] synonym: "hypercoagulabilities" EXACT [] synonym: "hypercoagulability" EXACT [] synonym: "hypercoagulability state" EXACT [] synonym: "thrombophilias" EXACT [] xref: EFO:0009315 xref: ICD10CM:D68.59 xref: MESH:D019851 xref: MIM:PS188050 xref: NCI:C84479 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:2455 name: angular blepharoconjunctivitis def: "A blepharoconjunctivitis that is characterized by fissuring, scaling, maceration and erythema of the lateral or medial canthal area. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK558902/ "DO"] xref: ICD10CM:H10.52 xref: ICD9CM:372.21 xref: RDO:9003501 is_a: DOID:2456 ! blepharoconjunctivitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:2456 name: blepharoconjunctivitis def: "A blepharitis that is characterized by the dual combination of conjunctivitis with blepharitis. (DO)" [http://en.wikipedia.org/wiki/Conjunctivitis "DO"] xref: ICD10CM:H10.5 xref: ICD9CM:372.2 xref: NCI:C34430 is_a: DOID:6195 ! conjunctivitis is_a: DOID:9423 ! blepharitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:2457 name: giant papillary conjunctivitis synonym: "giant papillary conjunctivitides" EXACT [] xref: GARD:8445 xref: NCI:C34507 is_a: DOID:2458 ! papillary conjunctivitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:2458 name: papillary conjunctivitis xref: NCI:C35616 is_a: DOID:6195 ! conjunctivitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:2460 name: anterior dislocation of lens xref: ICD10CM:H27.12 xref: ICD9CM:379.33 is_a: DOID:1242 ! globe disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:2462 name: retinal vascular disease synonym: "retina circulation disorder" EXACT [CSP2005:1114-7471] xref: NCI:C35170 xref: RDO:9002921 is_a: DOID:178 ! vascular disease is_a: DOID:5679 ! retinal disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:2468 name: psychotic disorder def: "A cognitive disorder that involves abnormal thinking and perceptions resulting in a disconnection with reality. (DO)" [http://www.nlm.nih.gov/medlineplus/psychoticdisorders.html "DO"] synonym: "brief reactive psychoses" EXACT [] synonym: "brief reactive psychosis" EXACT [] synonym: "juvenile onset psychosis" NARROW [] synonym: "mental or behavioural disorder" BROAD [] synonym: "psychoses" EXACT [] synonym: "psychosis" EXACT [] synonym: "psychotic disorders" EXACT [] synonym: "psychotic symptoms" RELATED [] xref: EFO:0000677 xref: EFO:0005407 xref: EFO:0005940 xref: ICD9CM:298.8 xref: MESH:D011618 xref: NCI:C78576 is_a: DOID:1561 ! cognitive disorder is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders [Term] id: DOID:2473 name: opportunistic mycosis def: "A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/ "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006 "DO"] synonym: "opportunistic mycoses" EXACT [] synonym: "opportunistic systemic mycoses" EXACT [] xref: ICD9CM:118 is_a: DOID:0050136 ! systemic mycosis is_a: DOID:9002002 ! Opportunistic Infections created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:2474 name: vernal conjunctivitis synonym: "vernal conjunctivitides" EXACT [] synonym: "vernal keratoconjunctivitides" EXACT [] synonym: "vernal keratoconjunctivitis" EXACT [] xref: GARD:7854 xref: ICD10CM:H10.44 xref: ICD9CM:372.13 xref: NCI:C34508 xref: RDO:9002739 is_a: DOID:11204 ! allergic conjunctivitis is_a: DOID:2475 ! chronic conjunctivitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:2475 name: chronic conjunctivitis def: "Long term inflammation of the conjunctiva, caused by a variety of agents." [] xref: ICD10CM:H10.4 xref: ICD9CM:372.1 xref: NCI:C35197 is_a: DOID:6195 ! conjunctivitis [Term] id: DOID:2476 name: hereditary spastic paraplegia def: "A paraplegia that is characterized by progressive stiffness and contraction (spasticity) in the lower limbs. (DO)" [http://en.wikipedia.org/wiki/Familial_spastic_paraplegia "DO"] synonym: "autosomal dominant hereditary spastic paraplegia" NARROW [] synonym: "AUTOSOMAL RECESSIVE COMPLEX SPASTIC PARAPLEGIA" NARROW [] synonym: "Autosomal Recessive Hereditary Spastic Paraplegia" NARROW [] synonym: "Charcot Marie Tooth Disease with Pyramidal Features, Autosomal Dominant" EXACT [] synonym: "CMT with Pyramidal Features" EXACT [] synonym: "COMPLEX HEREDITARY SPASTIC PARAPLEGIA" NARROW [] synonym: "Dominant Spastic Paraplegia" NARROW [] synonym: "familial spastic paraplegia" EXACT [] synonym: "French settlement disease" EXACT [] synonym: "Hereditary Motor and Sensory Neuropathy 5" EXACT [] synonym: "hereditary motor and sensory neuropathy type V" EXACT [] synonym: "Hereditary Motor And Sensory Neuropathy V" EXACT [] synonym: "Hereditary Motor Sensory Neuropathy with Pyramidal Signs" EXACT [] synonym: "hereditary spastic paraparesis" EXACT [] synonym: "hereditary spastic paraplegias" EXACT [] synonym: "Hereditary X Linked Recessive Spastic Paraplegia" EXACT [] synonym: "HMSN 5" EXACT [] synonym: "HMSN Type V" EXACT [] synonym: "HMSN V" EXACT [] synonym: "HMSN V (Hereditary Motor and Sensory Neuropathy Type V)" EXACT [] synonym: "Hypertrophic Motor Sensory Neuropathy Spastic Paraplegia" EXACT [] synonym: "peroneal muscular atrophy with pyramidal features, autosomal dominant" EXACT [] synonym: "PURE OR COMPLEX AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA" EXACT [] synonym: "recessive spastic paraplegia" NARROW [] synonym: "Strumpell-Lorrain disease" EXACT [] synonym: "X-linked hereditary spastic paraplegia" NARROW [] xref: EFO:0000529 xref: GARD:6637 xref: ICD9CM:334.1 xref: MESH:D015419 xref: MIM:PS303350 xref: MONDO:0019064 xref: NCI:C140267 is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:607 ! paraplegia [Term] id: DOID:2477 name: motor peripheral neuropathy def: "A neuropathy that is characterized by inflammation or degeneration of the peripheral motor nerves. (DO)" [https://www.ninds.nih.gov/health-information/disorders/peripheral-neuropathy "DO"] synonym: "Herditary Sensory and Motor Neuropathy" EXACT [] synonym: "hereditary motor and sensory neuropathies" EXACT [] synonym: "hereditary motor and sensory neuropathy, type VII" EXACT [] synonym: "hereditary sensory and motor neuropathy" EXACT [] synonym: "HMSN" EXACT [] synonym: "HMSN Type VII" EXACT [] synonym: "HSMN" EXACT [] synonym: "HSMN - hereditary sensory and motor neuropathy" EXACT [] synonym: "neuropathic muscular atrophy" EXACT [] synonym: "sensory neuropathy with spastic paraplegia" NARROW [] xref: MESH:D015417 is_a: DOID:870 ! neuropathy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:2479 name: central nervous system origin vertigo def: "A brain disease that is characterized by vertigo caused by hemorrhagic insult, ischemic insult or mass lesion of the cerebellum, the vestibular nuclei, and the brainstem, has_symptom dizziness, has_symptom nausea, has_symptom vomiting and has_symptom difficulty walking. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26643594 "DO"] synonym: "brain stem vertigo" EXACT [] synonym: "brainstem vertigo" EXACT [] synonym: "central origin vertigo" EXACT [] synonym: "central vestibular vertigo" EXACT [] synonym: "CNS origin vertigo" EXACT [] synonym: "vertigo of central origin" EXACT [] xref: ICD10CM:H81.4 xref: ICD9CM:386.2 is_a: DOID:9007736 ! Vertigo is_a: DOID:936 ! brain disease [Term] id: DOID:248 name: trachea leiomyoma def: "A respiratory system benign neoplasm that derives_from smooth muscle cells and is located_in the trachea. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26026331 "DO"] synonym: "leiomyoma of the trachea" EXACT [] xref: MESH:D014134 xref: MONDO:0002318 xref: NCI:C6049 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:9003134 ! tracheal neoplasm is_a: DOID:9006169 ! Head and Neck Neoplasms [Term] id: DOID:2485 name: phosphorus metabolism disease def: "Disorders in the processing of phosphorus in the body: its absorption, transport, storage, and utilization." [MESH:D010760] synonym: "disorder of phosphorus metabolism" EXACT [] synonym: "Phosphorus disorder" EXACT [] synonym: "Phosphorus Metabolism Disorder" EXACT [] synonym: "Phosphorus Metabolism Disorders" EXACT [] xref: ICD9CM:275.3 xref: MESH:D010760 xref: NCI:C97095 xref: RDO:0006341 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:0050032 ! mineral metabolism disease [Term] id: DOID:2490 name: congenital nervous system abnormality synonym: "congenital neurologic anomaly" EXACT [] xref: ICD9CM:742 is_a: DOID:0080015 ! physical disorder is_a: DOID:863 ! nervous system disease [Term] id: DOID:2491 name: sensory peripheral neuropathy def: "A neuropathy that involves damage to nerves of the peripheral nervous system. (DO)" [https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061 "DO"] synonym: "sensory neuropathy" EXACT [] xref: ICD9CM:356.2 xref: MONDO:0002321 xref: NCI:C3501 is_a: DOID:1389 ! polyneuropathy is_a: DOID:870 ! neuropathy created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2493 name: gastric antral vascular ectasia def: "A distinct vascular lesion in the PYLORIC ANTRUM that is characterized by tortuous dilated blood vessels (ectasia) radiating outward from the PYLORUS. The vessel pattern resembles the stripes on the surface of a watermelon. This lesion causes both acute and chronic GASTROINTESTINAL HEMORRHAGE." [MESH:D020252] synonym: "Antral Vascular Ectasia" EXACT [] synonym: "Antral Vascular Ectasias" EXACT [] synonym: "Watermelon Stomach" EXACT [] synonym: "Watermelon Stomachs" EXACT [] xref: EFO:1000945 xref: MESH:D020252 xref: NCI:C84724 is_a: DOID:1271 ! capillary disease is_a: DOID:2494 ! angiodysplasia is_a: DOID:76 ! stomach disease [Term] id: DOID:2494 name: angiodysplasia def: "A vascular disease that is characterized as a small vascular malformation of the gut. (DO)" [http://en.wikipedia.org/wiki/Angiodysplasia "DO"] synonym: "angiodysplasia of stomach and duodenum with hemorrhage" EXACT [] synonym: "angiodysplasias" EXACT [] xref: MESH:D016888 is_a: DOID:178 ! vascular disease [Term] id: DOID:2495 name: senile angioma synonym: "Senile hemangioma" RELATED [] synonym: "Senile naevus of skin" RELATED [] xref: NCI:C4390 xref: RDO:9004815 is_a: DOID:471 ! skin hemangioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:2497 name: enamel erosion xref: ICD9CM:521.31 is_a: DOID:2498 ! tooth erosion [Term] id: DOID:2498 name: tooth erosion def: "Progressive loss of the hard substance of a tooth by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" [MESH:D014077] synonym: "generalized erosion" EXACT [] synonym: "localized erosion" EXACT [] synonym: "Tooth Erosions" EXACT [] xref: ICD10CM:K03.2 xref: ICD9CM:521.3 xref: MESH:D014077 is_a: DOID:214 ! teeth hard tissue disease is_a: DOID:9004104 ! Tooth Wear [Term] id: DOID:2508 name: Takayasu's arteritis alt_id: MIM:207600 def: "A vasculitis that involves inflammation of the aorta that carries blood from the heart to the rest of the body. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001250.htm "DO"] synonym: "aortic arch arteritis" EXACT [] synonym: "aortitis syndrome" EXACT [] synonym: "idiopathic aortitis" EXACT [] synonym: "pulseless disease" EXACT [] synonym: "Takayasu's disease" EXACT [] synonym: "Takayasu arteritis" EXACT [] synonym: "Takayasu Disease" EXACT [] synonym: "Takayasus Arteritis" EXACT [] synonym: "Takayasu syndrome" EXACT [] synonym: "young female arteritides" EXACT [] synonym: "young female arteritis" EXACT [] xref: EFO:1001857 xref: GARD:7730 xref: ICD10CM:M31.4 xref: ICD9CM:446.7 xref: MESH:D013625 xref: NCI:C34391 xref: NCI:C35062 is_a: DOID:9001364 ! Aortic Arch Syndromes is_a: DOID:9002564 ! Arteritis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:251 name: alcohol-induced mental disorder def: "Disorders stemming from the misuse and abuse of alcohol." [MESH:D020751] synonym: "alcohol-induced disorder" EXACT [] synonym: "alcohol-induced disorders" EXACT [] xref: ICD9CM:291.89 xref: MESH:D020751 is_a: DOID:8646 ! substance-induced psychosis is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System [Term] id: DOID:2510 name: Kluver-Bucy syndrome def: "An impulse control disorder that involves abnormalities in memory, social and sexual functioning and idiosyncratic behaviors resulting from damage from trauma or infection to both temporal lobes causing individuals to put objects in their mouths and engage in inappropriate sexual behavior. (DO)" [http://en.wikipedia.org/wiki/Kl%C3%BCver%E2%80%93Bucy_syndrome "DO", http://www.ninds.nih.gov/disorders/kluver_bucy/kluver_bucy.htm "DO"] synonym: "Klver-Bucy syndrome" EXACT [] synonym: "temporal lobectomy behavior syndrome" EXACT [] xref: EFO:0007335 xref: MESH:D020232 xref: NCI:C84802 is_a: DOID:10937 ! impulse control disorder is_a: DOID:1307 ! dementia is_a: DOID:225 ! syndrome [Term] id: DOID:2512 name: nevoid basal cell carcinoma syndrome def: "A syndrome characterized by multiple early-onset basal cell carcinoma, multiple jaw keratocysts and skeletal abnormalities. (DO)" [https://medlineplus.gov/genetics/condition/gorlin-syndrome/ "DO", https://pubmed.ncbi.nlm.nih.gov/11932998/ "DO"] synonym: "basal cell nevus syndrome" EXACT [] synonym: "BCNS" EXACT [] synonym: "fifth phacomatoses" EXACT [] synonym: "fifth phacomatosis" EXACT [] synonym: "Gorlin-Goltz Syndrome" EXACT [] synonym: "Gorlin syndrome" EXACT [] synonym: "multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies" EXACT [] synonym: "NBCCS" EXACT [] xref: EFO:0004136 xref: GARD:7166 xref: MESH:D001478 xref: MIM:PS109400 xref: MONDO:0007187 xref: NCI:C2892 xref: ORDO:377 is_a: DOID:0080006 ! bone development disease is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:9002504 ! Odontogenic Cysts is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:2513 name: basal cell carcinoma alt_id: MIM:605462 alt_id: MIM:613058 alt_id: MIM:613059 alt_id: MIM:613061 alt_id: MIM:613062 alt_id: MIM:613063 alt_id: MIM:614740 def: "A skin carcinoma affecting basal cells. (DO)" [http://en.wikipedia.org/wiki/Basal-cell_carcinoma "DO"] synonym: "Basal Cell Cancer" EXACT [] synonym: "basal cell cancers" EXACT [] synonym: "basal cell carcinoma of skin" EXACT [] synonym: "basal cell carcinomas" EXACT [] synonym: "BASAL CELL CARCINOMA, SOMATIC" NARROW [] synonym: "BASAL CELL CARCINOMA, SPORADIC" NARROW [] synonym: "basal cell carcinoma, susceptibility to, 1" RELATED [] synonym: "basal cell carcinoma, susceptibility to, 2" RELATED [] synonym: "basal cell carcinoma, susceptibility to, 3" RELATED [] synonym: "basal cell carcinoma, susceptibility to, 4" RELATED [] synonym: "basal cell carcinoma, susceptibility to, 5" RELATED [] synonym: "basal cell carcinoma, susceptibility to, 6" RELATED [] synonym: "basal cell carcinoma, susceptibility to, 7" RELATED [] synonym: "basal cell epithelioma" EXACT [] synonym: "Basal Cell Epitheliomas" EXACT [] synonym: "Basal cell tumor" EXACT [] synonym: "BCC1" RELATED [] synonym: "BCC2" RELATED [] synonym: "BCC3" RELATED [] synonym: "BCC4" RELATED [] synonym: "BCC5" RELATED [] synonym: "BCC6" RELATED [] synonym: "BCC7" RELATED [] synonym: "malignant basal cell neoplasm" EXACT [] synonym: "malignant basal cell tumor" EXACT [] synonym: "PTCH2-RELATED CONDITION" BROAD [] synonym: "rodent ulcer" EXACT [] synonym: "rodent ulcers" EXACT [] xref: EFO:0004193 xref: ICDO:8090/3 xref: MESH:D002280 xref: NCI:C134570 xref: NCI:C156767 xref: NCI:C2921 xref: NCI:C3784 xref: NCI:C7586 is_a: DOID:3451 ! skin carcinoma is_a: DOID:9003929 ! Basal Cell Neoplasms [Term] id: DOID:2516 name: intracranial cavernous angioma synonym: "intracranial cavernoma" EXACT [] xref: NCI:C5432 is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:2517 ! intracranial structure hemangioma is_a: DOID:483 ! cavernous hemangioma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:2517 name: intracranial structure hemangioma synonym: "angioma of intracranial structure" EXACT [] synonym: "hemangioma of intracranial structure" EXACT [] synonym: "hemangioma of intracranial structures" EXACT [] xref: ICD10CM:D18.02 xref: ICD9CM:228.02 xref: NCI:C3633 is_a: DOID:255 ! hemangioma [Term] id: DOID:2518 name: orchitis def: "Inflammation of a TESTIS. It has many features of EPIDIDYMITIS, such as swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS and then the TESTIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." [MESH:D009920] synonym: "inflammation of testis" EXACT [] synonym: "Orchitides" EXACT [] synonym: "orchititis" EXACT [] xref: EFO:1001078 xref: ICD10CM:N45.2 xref: MESH:D009920 xref: NCI:C97145 is_a: DOID:2519 ! testicular disease [Term] id: DOID:2519 name: testicular disease def: "Pathological processes of the TESTIS." [MESH:D013733] synonym: "disorder of testis" EXACT [] synonym: "testicular diseases" EXACT [] synonym: "testis disorder" EXACT [] xref: EFO:0009601 xref: MESH:D013733 xref: NCI:C26890 is_a: DOID:2277 ! gonadal disease is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:252 name: alcoholic psychosis def: "An alcohol-induced mental disorder involving prominent hallucinations and delusions occurring during or shortly after acute alcohol intoxication or withdrawal. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK459134/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/22611692 "DO"] synonym: "alcoholic psychoses" EXACT [] xref: EFO:1001260 xref: ICD9CM:291.9 xref: MESH:D011604 is_a: DOID:251 ! alcohol-induced mental disorder [Term] id: DOID:2526 name: prostate adenocarcinoma alt_id: MIM:601188 def: "A prostate carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://cancergenome.nih.gov/cancersselected/prostatecancer "DO", http://en.wikipedia.org/wiki/Adenocarcinoma "DO", http://en.wikipedia.org/wiki/Prostate_cancer "DO"] synonym: "adenocarcinoma of prostate" EXACT [] synonym: "EFO:0000673" EXACT [] synonym: "prostatic adenocarcinoma" EXACT [] xref: EFO:0000673 xref: NCI:C2919 is_a: DOID:10286 ! prostate carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:2527 name: nephrosis def: "A proteinuria that is characterized by the leaking of blood protein into the urine, swelling or edema, and degenerative lesions without inflammation. (DO)" [https://en.wikipedia.org/wiki/Nephrosis "DO"] synonym: "nephroses" EXACT [] xref: MESH:D009401 is_a: DOID:576 ! proteinuria [Term] id: DOID:2529 name: splenic disease def: "Diseases involving the SPLEEN." [MESH:D013158] synonym: "dyssplenism" EXACT [] synonym: "spleen disease" EXACT [] synonym: "splenic diseases" EXACT [] xref: EFO:0009002 xref: ICD10CM:D73 xref: ICD9CM:289.50 xref: MESH:D013158 xref: NCI:C35823 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:2530 name: splenic abscess xref: ICD10CM:D73.3 xref: NCI:C35347 xref: RDO:9003944 is_a: DOID:2529 ! splenic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:2531 name: hematologic cancer def: "An organ system cancer located in the hematological system that is characterized by uncontrolled cellular proliferation in blood, bone marrow and lymph nodes. (DO)" [http://en.wikipedia.org/wiki/Blood_cancer "DO", http://www.cancer.gov/dictionary/?CdrID=45708 "DO"] synonym: "blood cancer" EXACT [] synonym: "hematological malignancies" EXACT [] synonym: "hematological malignancy" EXACT [] synonym: "hematological tumors" EXACT [] synonym: "hematologic malignancies" EXACT [] synonym: "hematologic malignancy" EXACT [] synonym: "hematopoietic and lymphoid system tumor" EXACT [] synonym: "hematopoietic cancer" EXACT [] synonym: "hematopoietic tumors" EXACT [] synonym: "malignant hematopoietic neoplasm" EXACT [] xref: NCI:C27134 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9006532 ! Hematologic Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:2533 name: splenic infarction def: "Insufficiency of arterial or venous blood supply to the spleen due to emboli, thrombi, vascular torsion, or pressure that produces a macroscopic area of necrosis. (From Stedman, 25th ed)" [MESH:D013159] synonym: "infarct of the spleen" EXACT [] synonym: "Infarct, Splenic" EXACT [] synonym: "Splenic Infarctions" EXACT [] synonym: "splenic infarcts" EXACT [] xref: EFO:1001190 xref: GARD:9973 xref: ICD10CM:D73.5 xref: MESH:D013159 is_a: DOID:178 ! vascular disease is_a: DOID:2529 ! splenic disease [Term] id: DOID:2536 name: chronic inflammatory demyelinating polyneuritis xref: NCI:C84636 xref: RDO:9002723 is_a: DOID:2537 ! inflammatory and toxic neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:2537 name: inflammatory and toxic neuropathy def: "A neuropathy that is caused by drug ingestion, drug or chemical abuse, or industrial chemical exposure from the workplace or the environment. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21897232/ "DO"] xref: ICD9CM:357 is_a: DOID:870 ! neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:2538 name: Landau-Kleffner syndrome def: "A childhood electroclinical syndrome that is characterized by the loss of language comprehension (auditory verbal agnosia) and verbal expression (aphasia) in association with severely abnormal electroencephalographic (EEG) findings during sleep and clinical seizures in most patients. (DO)" [https://rarediseases.org/rare-diseases/landau-kleffner-syndrome/ "DO"] synonym: "acquired aphasia with convulsive disorder" EXACT [] synonym: "Acquired Aphasia with Epilepsy" EXACT [] synonym: "Acquired Childhoood Aphasia with Convulsive Disorder" EXACT [] synonym: "Acquired Epileptic Aphasia" EXACT [] synonym: "Acquired Epileptic Aphasias" EXACT [] synonym: "Acquired Epileptiform Aphasia" EXACT [] synonym: "Acquired Epileptiform Aphasias" EXACT [] synonym: "Landau Kleffner acquired epileptiform aphasia" EXACT [] synonym: "LKS" EXACT [] xref: EFO:1001010 xref: GARD:6855 xref: ICD10CM:G40.8 xref: MESH:D018887 xref: NCI:C84806 xref: ORDO:98818 is_a: DOID:0050704 ! childhood electroclinical syndrome [Term] id: DOID:254 name: hemangioma of intra-abdominal structure synonym: "hemangioma, Intra-abdominal" EXACT [NCI2004_11_17:C3635] synonym: "hemangioma of intra-abdominal structures" EXACT [] xref: ICD10CM:D18.03 xref: ICD9CM:228.04 xref: NCI:C3635 xref: RDO:9002898 is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:2544 name: extratemporal epilepsy def: "An epilepsy syndrome that is located_in an area of the brain other than the temporal lobe. (DO)" [http://www.webmd.com/epilepsy/extratemporal-cortical-resection "DO"] xref: NCI:C7760 is_a: DOID:1826 ! epilepsy created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:2548 name: reflex epilepsy alt_id: MIM:132300 def: "A variable age at onset electroclinical syndrome that is consistently induced by identifiable and objective-specific triggers, which may be an afferent stimulus or by the patient's own activity. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5779309/ "DO"] synonym: "AGS" EXACT [] synonym: "Cursive Epilepsy" EXACT [] synonym: "cursive reflex epilepsies (running)" EXACT [] synonym: "Cursive Reflex Epilepsy (Running)" EXACT [] synonym: "Decision Making Reflex Epilepsy" EXACT [] synonym: "eating-induced epilepsies" EXACT [] synonym: "Eating Induced Epilepsy" EXACT [] synonym: "Eating-Induced Reflex Epilepsies" EXACT [] synonym: "Eating-Induced Reflex Epilepsy" EXACT [] synonym: "Epilepsies, Cursive" EXACT [] synonym: "epilepsy, sensory-induced" EXACT [] synonym: "Immersion Related Epilepsies" EXACT [] synonym: "Immersion Related Epilepsy" EXACT [] synonym: "Musicogenic Epilepsies" EXACT [] synonym: "Musicogenic Epilepsy" EXACT [] synonym: "Musicogenic Reflex Epilepsies" EXACT [] synonym: "Musicogenic Reflex Epilepsy" EXACT [] synonym: "Photosensitive Reflex Epilepsies" EXACT [] synonym: "Photosensitive Reflex Epilepsy" EXACT [] synonym: "Reading Epilepsies" EXACT [] synonym: "Reading Epilepsy" EXACT [] synonym: "Reading Reflex Epilepsies" EXACT [] synonym: "Reading Reflex Epilepsy" EXACT [] synonym: "Reflex Epilepsies" EXACT [] synonym: "visual pattern reflex epilepsy" EXACT [] synonym: "writing-induced reflex epilepsies" EXACT [] synonym: "writing-induced reflex epilepsy" EXACT [] xref: EFO:1001146 xref: MESH:D020195 xref: NCI:C85041 is_a: DOID:0050706 ! variable age at onset electroclinical syndrome [Term] id: DOID:255 name: hemangioma def: "A cardiovascular organ benign neoplasm that has_material_basis_in endothelial cells that line blood vessels and is characterized by increased number of normal or abnormal vessels filled with blood. (DO)" [http://en.wikipedia.org/wiki/Hemangioma "DO"] synonym: "angioma" EXACT [] synonym: "chorangioma" EXACT [] synonym: "chorangiomas" EXACT [] synonym: "EFO:1000635" EXACT [] synonym: "glabellar hemangioma" NARROW [] synonym: "hemangiomas" EXACT [] xref: EFO:0009908 xref: EFO:1000635 xref: ICD9CM:228.00 xref: ICDO:9120/0 xref: MESH:D006391 xref: NCI:C3085 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:9006948 ! Vascular Tissue Neoplasms [Term] id: DOID:2550 name: tactile epilepsy xref: NCI:C4687 is_a: DOID:2548 ! reflex epilepsy created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:2555 name: granulomatous angiitis synonym: "granulomatous angiitis of CNS" EXACT [] synonym: "granulomatous angiitis of the central nervous system" EXACT [] synonym: "granulomatous angiitis of the nervous system" EXACT [] xref: MESH:C537295 xref: NCI:C34653 is_a: DOID:525 ! central nervous system vasculitis is_a: DOID:865 ! vasculitis [Term] id: DOID:2556 name: relapsing polychondritis def: "A chondromalacia that is characterized by recurrent inflammation of cartilage and other tissues throughout the body. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26711694/ "DO", https://rarediseases.info.nih.gov/diseases/7417/relapsing-polychondritis "DO"] synonym: "chondromalacia, systemic" EXACT [] synonym: "chronic atrophic polychondritides" EXACT [] synonym: "chronic atrophic polychondritis" EXACT [] synonym: "relapsing polychondritides" EXACT [] xref: EFO:1001148 xref: GARD:7417 xref: ICD10CM:M94.1 xref: MESH:D011081 xref: NCI:C157268 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:2557 ! chondromalacia [Term] id: DOID:2557 name: chondromalacia def: "A cartilage disease that is characterized by softening and breakdown of cartilage inside a joint. (DO)" [https://www.health.harvard.edu/a_to_z/chondromalacia-a-to-z "DO"] synonym: "chondromalacias" EXACT [] xref: ICD10CM:M94.2 xref: ICD9CM:733.92 xref: MONDO:0002342 is_a: DOID:6227 ! articular cartilage disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:2559 name: opiate dependence alt_id: MIM:610064 def: "A drug dependence that involves the continued use of opiate drugs despite despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Opiate_dependency "DO"] synonym: "Disorder, Opioid-Related" EXACT [] synonym: "Narcotic Abuse" EXACT [] synonym: "Narcotic Abuses" EXACT [] synonym: "Narcotic Addiction" EXACT [] synonym: "Narcotic Dependence" EXACT [] synonym: "ODS1" EXACT [] synonym: "Opiate Addiction" EXACT [] synonym: "opioid addiction" EXACT [] synonym: "opioid dependence" EXACT [] synonym: "OPIOID DEPENDENCE, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "Opioid-Related Disorders" EXACT [] synonym: "opioid type dependence" EXACT [] xref: EFO:0005611 xref: ICD10CM:F11.2 xref: ICD9CM:304.00 xref: MESH:D009293 is_a: DOID:9004719 ! Narcotic-Related Disorders is_a: DOID:9974 ! drug dependence [Term] id: DOID:256 name: hemangioma of spleen synonym: "splenic hemangioma" EXACT [] xref: NCI:C8541 is_a: DOID:0060092 ! immune system organ benign neoplasm is_a: DOID:2529 ! splenic disease is_a: DOID:254 ! hemangioma of intra-abdominal structure created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:2560 name: morphine dependence def: "An opiate dependence that involves the continued use of morphine despite despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Opioid_dependence "DO"] synonym: "morphine abuse" EXACT [] synonym: "morphine addiction" EXACT [] xref: EFO:0005612 xref: MESH:D009021 is_a: DOID:2559 ! opiate dependence [Term] id: DOID:2562 name: suppurative periapical periodontitis def: "Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)" [MESH:D010482] synonym: "apical abscess" EXACT [] synonym: "Apical Alveolar Abscess" EXACT [] synonym: "apical alveolar abscesses" EXACT [] synonym: "Apical Dentoalveolar Abscess" EXACT [] synonym: "Apical Dentoalveolar Abscesses" EXACT [] synonym: "Dentoalveolar abscess" EXACT [] synonym: "Periapical Abscess" EXACT [] synonym: "Periapical Abscesses" EXACT [] synonym: "Periodontitis, Apical, Suppurative" EXACT [] synonym: "suppurative periapical periodontitides" EXACT [] xref: EFO:1001202 xref: MESH:D010482 xref: NCI:C34913 is_a: DOID:823 ! periapical periodontitis is_a: DOID:9000325 ! Abscess [Term] id: DOID:2565 name: macular corneal dystrophy alt_id: MESH:C537834 alt_id: MESH:C563270 alt_id: OMIA:002071 def: "A corneal dystrophy that is characterized by corneal haze, bilateral loss of vision, eventually necessitating corneal transplantation resulting from progressive punctate opacities in the cornea. (DO)" [http://disorders.eyes.arizona.edu/disorders/corneal-dystrophy-macular "DO", http://en.wikipedia.org/wiki/Macular_corneal_dystrophy "DO", http://www.omim.org/entry/217800?search=217800&highlight=217800 "DO", https://www.ncbi.nlm.nih.gov/pubmed/11017086 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17093400 "DO"] synonym: "corneal dystrophy, macular type" EXACT [] synonym: "corneal macular dystrophies" EXACT [] synonym: "Fehr corneal dystrophy" EXACT [] synonym: "Groenouw type II corneal dystrophy" EXACT [] synonym: "macular corneal dystrophy 1" NARROW [] synonym: "Macular Corneal Dystrophy Type 1" NARROW [] synonym: "Macular Corneal Dystrophy, Type I" NARROW [] synonym: "macular corneal dystrophy type II" NARROW [] synonym: "MCD" EXACT [] synonym: "MCDC1" NARROW [] xref: ICD10CM:H18.55 xref: ICD9CM:371.55 xref: MIM:217800 xref: NCI:C34793 is_a: DOID:0060442 ! stromal dystrophy [Term] id: DOID:2566 name: corneal dystrophy def: "Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect." [MESH:D003317] synonym: "CORNEAL DYSTROPHY, DOMINANT" NARROW [] synonym: "CORNEAL DYSTROPHY, DOMINANT/RECESSIVE" EXACT [] synonym: "CORNEAL DYSTROPHY, RECESSIVE" NARROW [] synonym: "Corneal Granular Dystrophies" NARROW [] synonym: "Corneal Granular Dystrophy" NARROW [] synonym: "Corneal Stromal Dystrophies" EXACT [] synonym: "Corneal Stromal Dystrophy" EXACT [] synonym: "Groenouw's Dystrophies" EXACT [] synonym: "Groenouw Dystrophies" EXACT [] synonym: "Groenouws dystrophies" EXACT [] synonym: "hereditary corneal dystrophies" EXACT [] synonym: "hereditary corneal dystrophy" EXACT [] xref: ICD9CM:371.5 xref: MESH:D003317 xref: NCI:C34512 xref: NCI:C34513 is_a: DOID:10124 ! corneal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:2568 name: cervicitis def: "A cervix disease that is characterized by inflammation of the cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23584805 "DO"] synonym: "cervicitides" EXACT [] synonym: "uterine cervicitides" EXACT [] synonym: "uterine cervicitis" EXACT [] xref: ICD10CM:N72 xref: ICD9CM:616.0 xref: MESH:D002575 xref: NCI:C26716 is_a: DOID:2253 ! cervix disease [Term] id: DOID:2569 name: retinal drusen def: "Colloid or hyaline bodies lying beneath the retinal pigment epithelium. They may occur either secondary to changes in the choroid that affect the pigment epithelium or as an autosomal dominant disorder of the retinal pigment epithelium." [MESH:D015593] xref: EFO:1001155 xref: ICD9CM:362.57 xref: MESH:D015593 is_a: DOID:2007 ! degeneration of macula and posterior pole is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:2570 name: malignant histiocytic disease def: "Distinctive neoplastic disorders of histiocytes. Included are malignant neoplasms of MACROPHAGES and DENDRITIC CELLS." [MESH:D015620] synonym: "Malignant Histiocytic Disorder" EXACT [] xref: MESH:D015620 xref: RDO:0006909 is_a: DOID:3405 ! histiocytosis is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:2571 name: Langerhans-cell histiocytosis alt_id: MIM:604856 def: "A histiocytosis that is characterized by clonal proliferation of Langerhans cells. (DO)" [http://en.wikipedia.org/wiki/Langerhans_cell_histiocytosis "DO"] synonym: "EFO:1000318" EXACT [] synonym: "generalized histiocytoses" EXACT [] synonym: "Generalized Histiocytosis" EXACT [] synonym: "Hand Schueller Christian Disease" EXACT [] synonym: "Hand Schueller Christian Syndrome" EXACT [] synonym: "Hand Schüller Christian Disease" EXACT [] synonym: "Hand Schüller Christian Syndrome" EXACT [] synonym: "Hashimoto-Pritzger Disease" EXACT [] synonym: "Histiocytosis X" EXACT [] synonym: "Langerhan's cell histiocytosis" EXACT [] synonym: "Langerhans cell granulomatoses" EXACT [] synonym: "Langerhans Cell Granulomatosis" EXACT [] synonym: "Langerhans cell histiocytoses" EXACT [] synonym: "Letterer Siwe Disease" EXACT [] synonym: "Letterer-Siwe disease involving intra-abdominal lymph nodes" EXACT [] synonym: "Letterer-Siwe disease involving intrapelvic lymph nodes" EXACT [] synonym: "Letterer-Siwe disease involving intrathoracic lymph nodes" EXACT [] synonym: "Letterer-Siwe disease involving lymph nodes of axilla and upper limb" EXACT [] synonym: "Letterer-Siwe disease involving lymph nodes of head, face, and neck" EXACT [] synonym: "Letterer-Siwe disease involving lymph nodes of inguinal region and lower limb" EXACT [] synonym: "Letterer-Siwe disease involving lymph nodes of multiple sites" EXACT [] synonym: "Letterer-Siwe disease involving spleen" EXACT [] synonym: "Letterer-Siwe disease of intra-abdominal lymph nodes" EXACT [] synonym: "Letterer-Siwe disease of intrapelvic lymph nodes" EXACT [] synonym: "Letterer-Siwe disease of intrathoracic lymph nodes" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of axilla and/or upper limb" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of axilla and upper limb" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of head, face and/or neck" NARROW [] synonym: "Letterer-Siwe disease of lymph nodes of head, face and neck" EXACT [] synonym: "Letterer-Siwe disease of lymph nodes of inguinal region amd/or lower limb" NARROW [] synonym: "Letterer-Siwe disease of lymph nodes of inguinal region and/or lower limb" NARROW [] synonym: "Letterer-Siwe disease of lymph nodes of inguinal region and lower limb" NARROW [] synonym: "Letterer-Siwe disease of lymph nodes of multiple sites" NARROW [] synonym: "Letterer-Siwe disease of spleen" NARROW [] synonym: "Non-Lipid Reticuloendothelioses" EXACT [] synonym: "Non Lipid Reticuloendotheliosis" EXACT [] synonym: "Pulmonary Histiocytosis X" EXACT [] synonym: "Pulmonary Langerhans Cell Granulomatosis" EXACT [] synonym: "Schueller Christian Disease" EXACT [] synonym: "Systemic Aleukemic Reticuloendothelioses" EXACT [] synonym: "systemic aleukemic reticuloendotheliosis" EXACT [] synonym: "type 2 histiocytoses" EXACT [] synonym: "type 2 histiocytosis" EXACT [] xref: EFO:1000318 xref: ICD10CM:C96.0 xref: ICD10CM:C96.6 xref: ICD9CM:202.5 xref: ICDO:9751/1 xref: MESH:D006646 xref: NCI:C158785 xref: NCI:C3107 xref: NCI:C3160 xref: NCI:C6920 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:3405 ! histiocytosis [Term] id: DOID:2575 name: barbiturate dependence def: "A drug dependence that involves the continued use of barbiturates despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Barbiturate_dependence "DO"] xref: ICD9CM:304.11 xref: RDO:9002639 is_a: DOID:9974 ! drug dependence created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:2580 name: rhizomelic chondrodysplasia punctata def: "A chondrodysplasia punctata that is characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe mental retardation with spasticity. (DO)" [http://en.wikipedia.org/wiki/Rhizomelic_chondrodysplasia_punctata "DO", http://ghr.nlm.nih.gov/condition/rhizomelic-chondrodysplasia-punctata "DO", https://www.ncbi.nlm.nih.gov/pubmed/15679822 "DO"] synonym: "chondrodysplasia punctata, rhizomelic form" EXACT [] synonym: "rhizomelic chondrodysplasia punctatas" EXACT [] xref: GARD:13160 xref: ICD10CM:E71.540 xref: MESH:D018902 xref: MIM:PS215100 xref: NCI:C85047 xref: ORDO:177 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2581 ! chondrodysplasia punctata is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:2581 name: chondrodysplasia punctata alt_id: MESH:C565853 alt_id: MIM:215105 def: "A syndrome that is characterized by abnormal calcification of the epiphyses, causing stippling in radiography. (DO)" [https://en.wikipedia.org/wiki/Chondrodysplasia_punctata#cite_note-Fitz2-1 "DO", https://www.ncbi.nlm.nih.gov/pubmed/22229330 "DO"] synonym: "chondrodysplasia calcificans congenita" EXACT [] synonym: "chondrodysplasia punctata congenita" EXACT [] synonym: "chondrodysplasia punctata syndrome" EXACT [] synonym: "chondrodystrophia calcificans congenita" EXACT [] synonym: "dysplasia epiphysialis punctata" EXACT [] synonym: "stippled epiphyses" EXACT [] xref: GARD:8542 xref: MESH:D002806 xref: NCI:C84632 xref: ORDO:93442 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:2582 name: acatalasia alt_id: MIM:614097 alt_id: OMIA:001138 def: "A peroxisomal disease characterized by loss of catalase activity in erythrocytes that has_material_basis_in homozygous mutation in the CAT gene on chromosome 11p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1999334/ "DO"] synonym: "Acatalasemia" EXACT [] synonym: "Acatalasemia Japanese Type" EXACT [] synonym: "Acatalasemia Swiss Type" EXACT [] synonym: "Catalase Deficiencies" EXACT [] synonym: "Catalase Deficiency" EXACT [] synonym: "deficiency of catalase" EXACT [] synonym: "Hypocatalasemia" EXACT [] synonym: "Hypocatalasia" EXACT [] synonym: "Takahara's Disease" EXACT [] synonym: "Takahara Disease" EXACT [] synonym: "Takaharas Disease" EXACT [] xref: EFO:0004144 xref: GARD:363 xref: MESH:D020642 xref: NCI:C84526 xref: ORDO:926 is_a: DOID:906 ! peroxisomal disease [Term] id: DOID:2583 name: agammaglobulinemia def: "A B cell deficiency that is caused by a reduction in all types of gamma globulins. (DO)" [http://en.wikipedia.org/wiki/Dysgammaglobulinemia "DO"] synonym: "agammaglobulinemias" EXACT [] synonym: "hypogammaglobulinemia" EXACT [] synonym: "hypogammaglobulinemias" EXACT [] synonym: "IGHM" NARROW [] synonym: "mu heavy chain deficiency" EXACT [] xref: ICD10CM:D80.1 xref: ICD9CM:279.00 xref: MESH:D000361 xref: MIM:PS601495 xref: NCI:C26931 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:2115 ! B cell deficiency is_a: DOID:620 ! blood protein disease [Term] id: DOID:2590 name: familial nephrotic syndrome def: "A nephrotic syndrome that has_material_basis_in genetic mutations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19066979 "DO"] synonym: "CNF" EXACT [] synonym: "congenital nephrosis" EXACT [] synonym: "congenital nephrotic syndrome" EXACT [] synonym: "genetic nephrotic syndrome" EXACT [] synonym: "hereditary nephrotic syndrome" EXACT [] synonym: "hereditary nephrotic syndromes" EXACT [] xref: ICD10CM:N04 xref: MESH:C535761 xref: MIM:PS256300 xref: NCI:C35337 xref: ORDO:564127 is_a: DOID:0050177 ! monogenic disease is_a: DOID:1184 ! nephrotic syndrome [Term] id: DOID:2595 name: glottis cancer synonym: "Ca larynx - glottis" EXACT [] synonym: "malignant tumor of glottis" EXACT [] synonym: "malignant tumor of the Glottis" EXACT [] xref: ICD10CM:C32.0 xref: ICD9CM:161.0 xref: NCI:C3544 is_a: DOID:2596 ! larynx cancer created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:2596 name: larynx cancer def: "A respiratory system cancer that is located_in the larynx. (DO)" [http://en.wikipedia.org/wiki/Larynx "DO"] synonym: "laryngeal cancer" EXACT [] synonym: "laryngeal cancers" EXACT [] synonym: "larynx cancers" EXACT [] synonym: "Malignant Laryngeal Neoplasm" EXACT [] xref: EFO:0003817 xref: EFO:1000354 xref: GARD:6862 xref: ICD10CM:C32 xref: ICD9CM:161 xref: NCI:C7484 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:9003613 ! Laryngeal Neoplasms [Term] id: DOID:2597 name: glottis neoplasm synonym: "neoplasm of glottis" EXACT [] synonym: "tumor of the glottis" EXACT [] xref: MONDO:0002353 xref: NCI:C4425 is_a: DOID:2598 ! laryngeal benign neoplasm [Term] id: DOID:2598 name: laryngeal benign neoplasm xref: NCI:C3156 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:9003613 ! Laryngeal Neoplasms [Term] id: DOID:2599 name: glottis carcinoma synonym: "carcinoma of glottis" EXACT [] synonym: "Glottic carcinoma" EXACT [] xref: NCI:C4923 xref: RDO:9002225 is_a: DOID:2595 ! glottis cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:26 name: pancreas disease def: "An endocrine system disease that is located_in the pancreas. (DO)" [http://en.wikipedia.org/wiki/Pancreatic_disease "DO"] synonym: "pancreatic disease" EXACT [] synonym: "pancreatic diseases" EXACT [] xref: EFO:0009605 xref: ICD10CM:K86.8 xref: ICD10CM:K86.89 xref: ICD9CM:577.8 xref: MESH:D010182 is_a: DOID:28 ! endocrine system disease is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:260 name: hepatic flexure cancer synonym: "Ca hepatic flexure - colon" EXACT [] synonym: "malignant neoplasm of hepatic flexure" EXACT [] synonym: "malignant tumor of hepatic flexure" EXACT [] xref: ICD10CM:C18.3 xref: ICD9CM:153.0 is_a: DOID:218 ! ascending colon cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:2600 name: laryngeal carcinoma def: "A larynx cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "cancer of larynx" BROAD [] synonym: "carcinoma of larynx" EXACT [] xref: NCI:C4855 is_a: DOID:2596 ! larynx cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2601 name: juxtacortical chondroma synonym: "periosteal chondroma" EXACT [] xref: NCI:C4302 is_a: DOID:2602 ! chondroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2602 name: chondroma def: "A cell type benign neoplasm that is a cartilaginous tumor encapsulated with a lobular growing pattern. (DO)" [http://en.wikipedia.org/wiki/Chondroma "DO"] synonym: "central chondroma" EXACT [] synonym: "Chondromas" EXACT [] synonym: "Enchondroma" EXACT [] synonym: "Enchondromas" EXACT [] xref: GARD:6052 xref: ICDO:9220/0 xref: MESH:D002812 xref: NCI:C3007 xref: NCI:C53459 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:9003944 ! Connective Tissue Neoplasms [Term] id: DOID:2609 name: adenomyoma def: "A cell type benign neoplasm that has_material_basis_in gland and muscle components. (DO)" [http://en.wikipedia.org/wiki/Adenomyoma "DO"] synonym: "adenomyomas" EXACT [] synonym: "EFO:0007133" EXACT [] xref: EFO:0007133 xref: ICDO:8932/0 xref: MESH:D018194 xref: NCI:C3726 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:461 ! muscle benign neoplasm is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:261 name: transverse colon cancer synonym: "Ca transverse colon" EXACT [] synonym: "malignant tumor of transverse colon" EXACT [SNOMEDCT_2005_07_31:363408006] xref: ICD10CM:C18.4 xref: ICD9CM:153.1 xref: RDO:9004769 is_a: DOID:219 ! colon cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:2614 name: serous surface papilloma xref: ICDO:8461/0 xref: NCI:C4181 is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2615 name: papilloma def: "A cell type benign neoplam that is composed of epithelial tissue on papillae of vascularized connective tissue. (DO)" [http://www.merriam-webster.com/medlineplus/papilloma "DO"] synonym: "Lung Papilloma" NARROW [] synonym: "papillomas" EXACT [] synonym: "papillomatoses" EXACT [] synonym: "papillomatosis" EXACT [] xref: EFO:1000335 xref: ICDO:8050/0 xref: MESH:D010212 xref: NCI:C24015 xref: NCI:C3713 xref: NCI:C7440 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:3168 ! squamous cell neoplasm [Term] id: DOID:2616 name: Wolffian duct adenoma def: "A reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the region of the Wolffian duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14515653 "DO"] synonym: "benign mesonephroma" EXACT [] synonym: "mesonephric adenoma" EXACT [] xref: NCI:C4294 is_a: DOID:0050622 ! reproductive organ benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:262 name: kidney hemangiopericytoma def: "A kidney cancer which is manifested in the kidney. (DO)" [http://en.wikipedia.org/wiki/Hemangiopericytoma "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1466284/ "DO"] synonym: "hemangiopericytoma of kidney" EXACT [] synonym: "renal hemangiopericytoma" EXACT [] xref: NCI:C4527 is_a: DOID:263 ! kidney cancer is_a: DOID:264 ! hemangiopericytoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:2621 name: autonomic nervous system neoplasm def: "A peripheral nervous system neoplasm that is located_in the autonomic nervous system. (DO)" [http://en.wikipedia.org/wiki/Autonomic_nervous_system "DO"] synonym: "tumor of autonomic nervous system" EXACT [] xref: NCI:C5112 is_a: DOID:1192 ! peripheral nervous system neoplasm created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2626 name: choroid plexus papilloma alt_id: MIM:260500 def: "A usually benign neoplasm that arises from the cuboidal epithelium of the choroid plexus and takes the form of an enlarged CHOROID PLEXUS, which may be associated with oversecretion of CSF. The tumor usually presents in the first decade of life with signs of increased intracranial pressure including HEADACHES; ATAXIA; DIPLOPIA; and alterations of mental status. In children it is most common in the lateral ventricles and in adults it tends to arise in the fourth ventricle. Malignant transformation to choroid plexus carcinomas may rarely occur. (Adams et al., Principles of Neurology, 6th ed, p667; DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072)" [MESH:D020288] synonym: "childhood choroid plexus papilloma" EXACT [] synonym: "childhood papilloma of choroid plexus" RELATED [] synonym: "choroid plexus papilloma, no ICD-O subtype" EXACT [SNOMEDCT_2005_07_31:18021007] synonym: "choroid plexus papillomas" EXACT [] synonym: "CPP" EXACT [] synonym: "papilloma of choroid plexus" EXACT [] synonym: "papilloma of the choroid plexus" EXACT [] synonym: "pediatric papilloma of choroid plexus" EXACT [NCI2004_11_17:C5800] xref: EFO:1000177 xref: GARD:4214 xref: ICDO:9390/0 xref: MESH:D020288 xref: NCI:C3698 xref: NCI:C5800 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:2615 ! papilloma is_a: DOID:60007 ! cerebrovascular benign neoplasm is_a: DOID:9000080 ! Choroid Plexus Neoplasms [Term] id: DOID:263 name: kidney cancer alt_id: DOID:3676 def: "A urinary system cancer that is located_in the kidney. (DO)" [http://en.wikipedia.org/wiki/Kidney_cancer "DO"] synonym: "cancer of kidney" EXACT [] synonym: "cancer of the kidney" EXACT [] synonym: "kidney cancers" EXACT [] synonym: "malignant neoplasm of kidney except pelvis" EXACT [] synonym: "malignant tumour of kidney" EXACT [] synonym: "renal cancer" EXACT [] synonym: "renal cancers" EXACT [] xref: EFO:0003865 xref: ICD10CM:C64 xref: ICD9CM:189.0 xref: MONDO:0002367 xref: NCI:C120456 xref: NCI:C3150 xref: NCI:C7548 is_a: DOID:3996 ! urinary system cancer is_a: DOID:9002265 ! Kidney Neoplasms [Term] id: DOID:2632 name: papillary serous adenocarcinoma def: "A papillary adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures with psammoma bodies. (DO)" [https://www.ajronline.org/doi/10.2214/ajr.182.6.1821534 "DO"] synonym: "micropapillary serous carcinoma" EXACT [] synonym: "papillary serous carcinoma" EXACT [] synonym: "serous surface papillary carcinoma" EXACT [] xref: EFO:1000377 xref: NCI:C4182 xref: NCI:C6882 xref: NCI:C8377 is_a: DOID:3112 ! papillary adenocarcinoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:2634 name: cystadenoma def: "An adenoma that forms a cyst. (DO)" [http://en.wikipedia.org/wiki/Cystadenoma "DO"] synonym: "cystadenomas" EXACT [] synonym: "cystoma" EXACT [] xref: ICDO:8440/0 xref: MESH:D003537 xref: NCI:C2972 is_a: DOID:657 ! adenoma is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms [Term] id: DOID:2636 name: ovarian Brenner tumor def: "An ovarian benign neoplasm that has_material_basis_in the surface epithelium of the ovary. (DO)" [https://en.wikipedia.org/wiki/Brenner_tumour "DO"] synonym: "benign Brenner tumor" EXACT [] synonym: "benign ovarian Brenner tumor" EXACT [] synonym: "benign ovarian Brenner tumour" EXACT [] synonym: "Borderline Ovarian Brenner Tumor" NARROW [] synonym: "Brenner tumor of ovary" EXACT [] synonym: "ovarian Brenner tumour" EXACT [] synonym: "ovary Brenner tumor" EXACT [] xref: EFO:1000112 xref: EFO:1000135 xref: GARD:9397 xref: NCI:C3872 xref: NCI:C39954 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:9003150 ! Brenner Tumor [Term] id: DOID:2639 name: breast pericanalicular fibroadenoma def: "A breast fibroadenoma that is characterized by stromal proliferation around epithelial structures. (DO)" [https://en.wikipedia.org/wiki/Fibroadenoma "DO"] synonym: "Pericanalicular fibroadenoma" EXACT [SNOMEDCT_2005_07_31:41382006] synonym: "pericanalicular fibroadenoma of breast" EXACT [] xref: NCI:C4272 xref: RDO:9004269 is_a: DOID:1618 ! breast fibroadenoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:264 name: hemangiopericytoma def: "A hemangiopericytic tumor that is a soft tissue sarcoma and originates in the pericytes in the walls of capillaries. (DO)" [http://en.wikipedia.org/wiki/Hemangiopericytoma "DO"] synonym: "haemangiopericytic meningioma" EXACT [] synonym: "hemangiopericytomas" EXACT [] xref: GARD:2627 xref: ICDO:9150/3 xref: MESH:D006393 xref: MONDO:0005094 xref: NCI:C3087 is_a: DOID:201 ! connective tissue cancer is_a: DOID:3850 ! hemangiopericytic tumor [Term] id: DOID:2640 name: struma ovarii alt_id: DOID:5209 def: "An ovarian benign neoplasm that is composed either exclusively or predominantly of thyroid tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25640097 "DO", https://www.ncbi.nlm.nih.gov/pubmed/26374222 "DO"] synonym: "benign struma ovarii" EXACT [] synonym: "EFO:1001192" EXACT [] xref: EFO:1001192 xref: ICDO:9090/0 xref: MESH:D013330 xref: NCI:C7468 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:2641 name: ovarian germ cell monodermal and highly specialized teratoma def: "A monodermal teratoma that has_material_basis_in germ cells that are highly specialized and is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12440821 "DO"] synonym: "ovarian monodermal and highly specialized teratoma" EXACT [] xref: NCI:C8113 is_a: DOID:5207 ! monodermal teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:2643 name: perivascular epithelioid cell tumor def: "A family of mesenchymal tumors composed of histologically and immunohistochemically distinctive perivascular epithelioid cells. These cells do not have a normal anatomic homolog. (From Fletcher CDM, et. al., World Health Organization Classification of Tumors: Pathology and Genetics of Tumors of Soft Tissue and Bone, 2002)." [MESH:D054973] synonym: "CCMMT" EXACT [] synonym: "Clear-Cell Myomelanocytic Tumor" EXACT [] synonym: "Clear Cell Myomelanocytic Tumors" EXACT [] synonym: "Clear-Cell Sugar Tumor" EXACT [] synonym: "Clear Cell Sugar Tumors" EXACT [] synonym: "EFO:1000464" EXACT [] synonym: "neoplasm with Perivascular epithelioid cell differentiation" EXACT [NCI2004_11_17:C38150] synonym: "PEComa" EXACT [] synonym: "PEComas" EXACT [] synonym: "Perivascular Epithelioid Cell Neoplasms" EXACT [] synonym: "Perivascular Epithelioid Cell Tumors" EXACT [] xref: EFO:1000464 xref: MESH:D054973 xref: NCI:C38150 xref: RDO:0007098 is_a: DOID:3316 ! perivascular tumor is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms [Term] id: DOID:2645 name: benign mesothelioma def: "A cell type benign neoplasm that has_material_basis_in mesothelium. (DO)" [http://www.mayoclinic.org/diseases-conditions/mesothelioma/basics/definition/con-20026157?_ga=1.105809091.1500897651.1410548817 "DO"] synonym: "benign tumor of mesothelium" EXACT [] xref: ICD10CM:C45 xref: MONDO:0002373 xref: NCI:C3234 is_a: DOID:3314 ! angiomyolipoma is_a: DOID:9003566 ! Mesothelioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:2647 name: parachordoma synonym: "EFO:1000452" EXACT [] xref: EFO:1000452 xref: ICDO:9373/0 xref: NCI:C6581 is_a: DOID:3350 ! mesenchymal cell neoplasm created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:2648 name: sebaceous adenoma synonym: "adenoma of the sebaceous gland" EXACT [] synonym: "skin appendage sebaceous adenoma" EXACT [] xref: NCI:C4174 is_a: DOID:5759 ! sebaceous gland neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2649 name: chondroblastoma def: "A connective tissue benign neoplasm that derives_from chondroblasts and begins in cartilage at the ends of long bones (thighbone, shinbone, humerus) close to the joints. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/chondroblastoma "DO", https://www.ncbi.nlm.nih.gov/books/NBK536947/ "DO"] synonym: "chondroblastoma of bone" EXACT [] synonym: "chondroblastomas" EXACT [] synonym: "EFO:0000331" EXACT [] xref: EFO:0000331 xref: GARD:6047 xref: ICDO:9230/1 xref: MESH:D002804 xref: NCI:C2945 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:265 name: spleen angiosarcoma def: "An angiosarcoma and hemangioma of intra-abdominal structure and malignant soft tissue neoplasm of the spleen that results_in a nonhematolymphoid malignant neoplasm of the spleen. (DO)" [https://pubs.rsna.org/doi/full/10.1148/radiol.2351040308 "DO"] synonym: "angiosarcoma of spleen" EXACT [] synonym: "splenic hemangiosarcoma" EXACT [] xref: NCI:C4564 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:672 ! spleen cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:2653 name: benign fibrous mesothelioma def: "A rare neoplasm, usually benign, derived from mesenchymal fibroblasts located in the submesothelial lining of the PLEURA. It spite of its various synonyms, it has no features of mesothelial cells and is not related to malignant MESOTHELIOMA or asbestos exposure." [MESH:D054363] synonym: "benign fibrous mesotheliomas" EXACT [] synonym: "EFO:1000835" EXACT [] synonym: "Fibrous Mesothelioma" EXACT [] synonym: "Fibrous Mesotheliomas" EXACT [] synonym: "localized benign fibrous mesothelioma" EXACT [] synonym: "Localized Fibrous Mesothelioma" EXACT [] synonym: "Localized Fibrous Mesotheliomas" EXACT [] synonym: "Localized Mesothelioma" EXACT [] synonym: "Localized Mesotheliomas" EXACT [] synonym: "Solitary Fibrous Mesothelioma" EXACT [] synonym: "Solitary Fibrous Mesotheliomas" EXACT [] synonym: "Solitary Fibrous Tumor of the Pleura" EXACT [] synonym: "Solitary Fibrous Tumor, Pleural" EXACT [] synonym: "Submesothelial Fibroma" EXACT [] synonym: "submesothelial fibromas" EXACT [] xref: EFO:1000835 xref: MESH:D054363 xref: NCI:C4457 xref: RDO:0007670 is_a: DOID:2645 ! benign mesothelioma is_a: DOID:9000315 ! Pleural Neoplasms is_a: DOID:9002958 ! Solitary Fibrous Tumors [Term] id: DOID:2656 name: breast intracanalicular fibroadenoma def: "A breast fibroadenoma that is characterized by stromal proliferation compressing the epithelial structures into clefts. (DO)" [https://en.wikipedia.org/wiki/Fibroadenoma "DO"] xref: NCI:C4271 xref: RDO:9004270 is_a: DOID:1618 ! breast fibroadenoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:2658 name: dermoid cyst def: "A cystic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). (DO)" [https://en.wikipedia.org/wiki/Dermoid_cyst "DO"] synonym: "cystic dermoid choristoma" EXACT [] synonym: "Dermoid" EXACT [] synonym: "dermoid choristoma" EXACT [] synonym: "Dermoid Cysts" EXACT [] synonym: "Dermoids" EXACT [] synonym: "dermoid tumour" EXACT [] synonym: "mature cystic teratoma" EXACT [] synonym: "teratoma, benign" EXACT [] xref: EFO:1000894 xref: ICD10CM:K09.8 xref: ICDO:9084/0 xref: MESH:D003884 xref: NCI:C9011 is_a: DOID:2660 ! cystic teratoma is_a: DOID:5566 ! mature teratoma is_a: DOID:9007583 ! Cysts [Term] id: DOID:2660 name: cystic teratoma def: "A benign teratoma that is characterized by the presence of cysts or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23905455 "DO"] xref: NCI:C9014 is_a: DOID:0080602 ! benign teratoma [Term] id: DOID:2661 name: myoepithelioma def: "A sweat gland benign neoplasm that is composed_of outgrowths of myoepithelial cells from a sweat gland. (DO)" [http://medical-dictionary.thefreedictionary.com/myoepithelioma "DO"] synonym: "benign myoepithelioma" EXACT [] synonym: "myoepithelial adenoma" EXACT [] synonym: "myoepithelial neoplasm" EXACT [] synonym: "Myoepithelial Tumor" EXACT [] synonym: "Myoepithelial Tumors" EXACT [] synonym: "Myoepitheliomas" EXACT [] xref: ICDO:8982/0 xref: MESH:D009208 xref: NCI:C40392 is_a: DOID:2664 ! sweat gland benign neoplasm is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:2664 name: sweat gland benign neoplasm xref: EFO:1001204 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:9007274 ! Sweat Gland Neoplasms [Term] id: DOID:2668 name: mesenchymoma def: "A mixed mesenchymal tumor composed of two or more mesodermal cellular elements not commonly associated, not counting fibrous tissue as one of the elements. Mesenchymomas are widely distributed in the body and about 75% are malignant. (Dorland, 27th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" [MESH:D008637] synonym: "EFO:1001042" EXACT [] synonym: "Mesenchymomas" EXACT [] xref: EFO:1001042 xref: ICDO:8990/3 xref: MESH:D008637 xref: NCI:C3233 xref: RDO:0000961 is_a: DOID:201 ! connective tissue cancer is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:2669 name: Pacinian tumor synonym: "Pacinian neurofibroma" EXACT [] xref: ICDO:9507/0 xref: NCI:C4328 is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:2670 name: transitional papilloma synonym: "EFO:0006497" EXACT [] synonym: "transitional cell papilloma" EXACT [] synonym: "transitional cell papilloma, benign" EXACT [SNOMEDCT_2005_07_31:44342003] xref: EFO:0006497 xref: NCI:C4115 xref: RDO:9003774 is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2671 name: transitional cell carcinoma alt_id: OMIA:001512 def: "A carcinoma that derives_from transitional epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Transitional_cell_carcinoma "DO"] synonym: "EFO:1000601" EXACT [] synonym: "invasive transitional cell carcinoma" NARROW [] synonym: "TCC" EXACT [] synonym: "transitional carcinoma" EXACT [] synonym: "transitional cell carcinoma of the bladder" NARROW [] synonym: "transitional cell carcinomas" EXACT [] synonym: "transitional cell neoplasm" RELATED [] synonym: "transitional cell tumor" EXACT [] synonym: "urothelial carcinoma" EXACT [] synonym: "urothelial cell carcinoma" EXACT [] xref: EFO:0008528 xref: EFO:1000601 xref: GARD:7794 xref: ICDO:8120/3 xref: MESH:D002295 xref: NCI:C128126 xref: NCI:C2930 xref: NCI:C6783 is_a: DOID:305 ! carcinoma is_a: DOID:9004643 ! Urologic Neoplasms [Term] id: DOID:2673 name: adult cystic nephroma def: "A nephroma that is characterized as a localized, well-circumscribed multilocular tumor lined by hobnail epithelium. (DO)" [http://www.pathologyoutlines.com/topic/kidneytumorcysticnephroma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/27831959 "DO"] synonym: "benign cystic nephroma" EXACT [] synonym: "cystic nephroma" EXACT [] synonym: "multilocular cystic nephroma, mixed epithelial stromal tumour and renal epithelial stromal tumour" EXACT [] xref: EFO:1000213 xref: MONDO:0002385 xref: NCI:C7504 is_a: DOID:0080615 ! nephroma created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:2679 name: dysembryoplastic neuroepithelial tumor def: "A rare brain tumor that occurs in children and is characterized by long-standing, intractable partial complex seizures." [] synonym: "DNET" EXACT [] synonym: "DNT" EXACT [] synonym: "dysembryoplastic neuroepithelial neoplasm" EXACT [] synonym: "dysembryoplastic neuroepithelial tumour" EXACT [] synonym: "EFO:0005551" EXACT [] xref: EFO:0005551 xref: GARD:10640 xref: ICDO:9413/0 xref: NCI:C9505 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:3070 ! high grade glioma created_by: rgd creation_date: 2016-12-02T00:00:00Z [Term] id: DOID:268 name: liver angiosarcoma def: "An angiosarcoma and sarcoma of liver and hemangioma of intra-abdominal structure and Ca liver - primary that is located_in the liver. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30093472 "DO"] synonym: "angiosarcoma of liver" EXACT [] synonym: "hemangiosarcoma of the liver" EXACT [] xref: GARD:5813 xref: ICD10CM:C22.3 xref: NCI:C4438 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:270 ! liver sarcoma is_a: DOID:272 ! hepatic vascular disease created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:2682 name: intracystic papillary adenoma synonym: "intracystic papilloma" EXACT [] xref: ICDO:8504/0 is_a: DOID:3172 ! papillary adenoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2683 name: adenofibroma def: "A cell type benign neoplasm that is composed_of glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [http://www.ncbi.nlm.nih.gov/mesh/68000232 "DO"] synonym: "adenofibromas" EXACT [] synonym: "EFO:1000070" EXACT [] synonym: "fibroadenosis" EXACT [] xref: EFO:1000070 xref: ICDO:9013/0 xref: MESH:D000232 is_a: DOID:657 ! adenoma is_a: DOID:9007017 ! Fibroepithelial Neoplasms [Term] id: DOID:2685 name: ossifying fibromyxoid tumor def: "A rare soft tissue tumor of uncertain lineage characterized by the presence of neoplastic spindle to round cells forming cords in a fibromyxoid stroma. The lesions are associated with the formation of metaplastic bone. Most patients present with painless subcutaneous masses. Recurrences have been reported in a minority of patients. (NCI)" [] synonym: "EFO:1000408" EXACT [] synonym: "ossifying fibromyxoid neoplasm" EXACT [] synonym: "ossifying fibromyxoid tumour" EXACT [] synonym: "ossifying fibromyxoma" EXACT [] xref: EFO:1000408 xref: ICDO:8842/0 xref: NCI:C6582 is_a: DOID:3350 ! mesenchymal cell neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:2687 name: skin sarcoma def: "A sarcoma that is located_in the skin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21146736 "DO"] synonym: "cutaneous sarcoma" EXACT [] synonym: "EFO:1000531" EXACT [] xref: EFO:1000531 xref: NCI:C5585 is_a: DOID:1115 ! sarcoma is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:2689 name: lymphangiosarcoma def: "A lymphatic system cancer that has_material_basis_in endothelial cells located_in lymphatic vessels. (DO)" [https://en.wikipedia.org/wiki/Lymphangiosarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/9796078 "DO"] synonym: "EFO:1000339" EXACT [] synonym: "lymphangiosarcomas" EXACT [] synonym: "malignant lymphangioendothelioma" EXACT [] synonym: "malignant lymphangioendotheliomas" EXACT [] synonym: "skin lymphangiosarcoma" EXACT [] synonym: "Stewart-Treves syndrome" EXACT [] xref: EFO:1000339 xref: ICDO:9170/3 xref: MESH:D008204 xref: NCI:C3205 xref: NCI:C4490 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:1115 ! sarcoma is_a: DOID:9003008 ! Lymphatic Vessel Tumors [Term] id: DOID:2691 name: myoma def: "A muscle benign neoplasm that is characterized as benign hyperplastic lesions of uterine smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29789793 "DO"] synonym: "benign neoplasm of the muscle" EXACT [] synonym: "myomas" EXACT [] xref: ICD10CM:D21 xref: ICDO:8895/0 xref: MESH:D009214 xref: NCI:C4882 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:461 ! muscle benign neoplasm [Term] id: DOID:2696 name: Leydig cell tumor def: "A sex cord-gonadal stromal tumor that secretes testosterone characterized by excessive proliferation of Leydig cells located_in ovary or testicle. (DO)" [https://en.wikipedia.org/wiki/Leydig_cell_tumour "DO"] synonym: "EFO:1000321" EXACT [] synonym: "interstitial cell tumor" EXACT [] synonym: "interstitial cell tumors" EXACT [] synonym: "Leydig cell neoplasm" EXACT [] synonym: "Ovarian Leydig Cell Tumor" NARROW [] xref: EFO:1000321 xref: EFO:1000423 xref: MESH:D007984 xref: NCI:C134947 xref: NCI:C3188 xref: NCI:C4213 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:2697 name: renal adenoma synonym: "renal cell adenoma" EXACT [SNOMEDCT_2005_07_31:41627005] xref: NCI:C8383 is_a: DOID:3116 ! kidney benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:2698 name: nephrogenic adenofibroma synonym: "metanephric adenofibroma" EXACT [] xref: NCI:C39812 xref: RDO:9005135 is_a: DOID:3116 ! kidney benign neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:270 name: liver sarcoma def: "A sarcoma and malignant non-epithelial hepatic and intrahepatic bile duct neoplasm sthat is located_in the liver. (DO)" [http://www.cancersupportivecare.com/liver.html "DO"] synonym: "hepatic sarcoma" EXACT [] xref: NCI:C4437 is_a: DOID:1115 ! sarcoma is_a: DOID:3571 ! liver cancer created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:2700 name: mucinous adenofibroma def: "An adenofibroma that is characterized by the presence of mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3977110/ "DO"] xref: ICDO:9015/0 xref: NCI:C8978 xref: RDO:9005004 is_a: DOID:2683 ! adenofibroma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:2701 name: nodular tenosynovitis synonym: "benign synovioma" EXACT [] synonym: "benign tumor of synovium" EXACT [] synonym: "localized giant cell tumor of tenosynovium" EXACT [] xref: NCI:C3829 xref: NCI:C6532 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:2702 name: pigmented villonodular synovitis def: "Diffuse outgrowth arising from the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath around the joint cavity, with extension to surrounding soft tissue. It is characterized by pigmented HEMOSIDERIN-containing MACROPHAGES; FOAM CELLS; and multinucleated GIANT CELLS. It usually occurs in the hands and feet, and around large joints, such as in the ankle and knee joints." [MESH:D013586] synonym: "Diffuse Giant cell tumor of Tenosynovium" EXACT [NCI2004_11_17:C3401] synonym: "Diffuse Tenosynovial Giant Cell Tumor" EXACT [] synonym: "Pigmented Villonodular Synovitides" EXACT [] synonym: "villous tenosynovitis" EXACT [SNOMEDCT_2005_07_31:71508003] xref: EFO:1001106 xref: GARD:7396 xref: ICD10CM:M12.2 xref: MESH:D013586 xref: NCI:C3401 is_a: DOID:314 ! tenosynovial giant cell tumor is_a: DOID:9898 ! villonodular synovitis [Term] id: DOID:2703 name: synovitis def: "A connective tissue disease that results_in inflammation located_in synovial membrane that lines a synovial joint which causes pain and swelling. (DO)" [https://en.wikipedia.org/wiki/Synovitis "DO"] synonym: "synovial hypertrophies" EXACT [] synonym: "Synovial Hypertrophy" EXACT [] synonym: "Synovial Thickening" EXACT [] synonym: "synovitides" EXACT [] xref: EFO:0008997 xref: GARD:7722 xref: MESH:D013585 xref: MONDO:0002400 xref: NCI:C50766 is_a: DOID:381 ! arthropathy is_a: DOID:65 ! connective tissue disease [Term] id: DOID:2704 name: malignant giant cell tumor of the tendon sheath synonym: "Giant cell tumour of tendon sheath, malignant" EXACT [SNOMEDCT_2005_07_31:128778009] synonym: "malignant Giant cell neoplasm of the Tendon Sheath" EXACT [NCI2004_11_17:C6535] xref: NCI:C6535 is_a: DOID:2706 ! synovium cancer [Term] id: DOID:2705 name: malignant giant cell tumor synonym: "malignant giant cell neoplasm" EXACT [] synonym: "malignant tumor, giant cell type" EXACT [] xref: NCI:C4090 is_a: DOID:201 ! connective tissue cancer is_a: DOID:9003853 ! Giant Cell Tumors [Term] id: DOID:2706 name: synovium cancer synonym: "malignant tumor of synovium" EXACT [] xref: NCI:C6531 is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:2708 name: mushroom workers' lung def: "An extrinsic allergic alveolitis involving inflammation of the alveoli within the lung caused by hypersensitivity to the inhalation of organic dust particles derived from either the mushrooms, their spores or the compost in which the mushrooms are grown. It is usually caused by the spores of thermophilic actinomycetes. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470139/pdf/thorax00134-0122.pdf "DO"] xref: EFO:0007385 xref: ICD10CM:J67.5 xref: ICD9CM:495.5 xref: RDO:9004047 is_a: DOID:841 ! extrinsic allergic alveolitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:271 name: hemangioma of liver synonym: "angioma of liver" EXACT [] synonym: "hepatic angioma" EXACT [] synonym: "hepatic hemangioma" EXACT [] synonym: "liver angioma" EXACT [] xref: MONDO:0002404 xref: NCI:C3869 is_a: DOID:254 ! hemangioma of intra-abdominal structure is_a: DOID:272 ! hepatic vascular disease is_a: DOID:916 ! liver benign neoplasm created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:2710 name: sick building syndrome def: "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=sick%20building%20syndrome "DO"] synonym: "sick house syndrome" EXACT [] synonym: "sick house syndromes" EXACT [] xref: EFO:0007484 xref: MESH:D018877 is_a: DOID:225 ! syndrome is_a: DOID:841 ! extrinsic allergic alveolitis is_a: DOID:9003858 ! Environmental Illness [Term] id: DOID:2712 name: phimosis def: "A condition in which the FORESKIN cannot be retracted to reveal the GLANS PENIS. It is due to tightness or narrowing of the foreskin opening." [MESH:D010688] synonym: "Phimoses" EXACT [] synonym: "tight foreskin" EXACT [] synonym: "tight frenulum" EXACT [] xref: EFO:1001104 xref: ICD10CM:N47.1 xref: MESH:D010688 xref: NCI:C26852 is_a: DOID:1529 ! penile disease [Term] id: DOID:2717 name: Bloom syndrome def: "A syndrome characterized by sun sensitivity, short stature, predisposition to the development of cancer and genomic instability. (DO)" [http://ghr.nlm.nih.gov/condition/bloom-syndrome "DO", https://en.wikipedia.org/wiki/Bloom_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/10823897 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9482582 "DO"] synonym: "BLM" EXACT [] synonym: "Bloom's syndrome" EXACT [] synonym: "Bloom-Torre-Machacek syndrome" EXACT [] synonym: "BLS" EXACT [] synonym: "BS" EXACT [] synonym: "congenital telangiectatic erythema" EXACT [] synonym: "congenital telangiectatic erythema syndrome" EXACT [] synonym: "DNA ligase I deficiency" RELATED [] synonym: "MGRISCE1" EXACT [] synonym: "microcephaly, growth restriction, and increased sister chromatid exchange 1" EXACT [] xref: MESH:D001816 xref: MIM:210900 xref: MONDO:0008876 xref: NCI:C2903 xref: ORDO:125 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders is_a: DOID:9009080 ! Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange [Term] id: DOID:2718 name: hemopneumothorax def: "A pneumothorax that is characterized by having air in the chest cavity and blood in the chest cavity. (DO)" [https://en.wikipedia.org/wiki/Hemopneumothorax "DO"] synonym: "haemopneumothorax" EXACT [] xref: EFO:1000963 xref: ICD10CM:J94.2 xref: MESH:D006468 is_a: DOID:1673 ! pneumothorax is_a: DOID:9000415 ! Hemothorax [Term] id: DOID:272 name: hepatic vascular disease def: "A vascular disease that is located_in the liver. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21055687 "DO"] synonym: "vascular disorder of liver" EXACT [] xref: NCI:C35442 xref: RDO:9002801 is_a: DOID:178 ! vascular disease is_a: DOID:409 ! liver disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:2722 name: acrodermatitis alt_id: OMIA:002146 def: "A dermatitis that selectively affects the hands and feet. (DO)" [http://en.wikipedia.org/wiki/Acrodermatitis "DO"] synonym: "acrodermatitides" EXACT [] synonym: "Acrodermatitis Papulosa Infantum" EXACT [] synonym: "Acropapulo Vesicular Syndrome" EXACT [] synonym: "acropapulo-vesicular syndromes" EXACT [] synonym: "childhood papular acrodermatitides" EXACT [] synonym: "Childhood Papular Acrodermatitis" EXACT [] synonym: "Erythemato Vesiculo Papulous Eruptive Syndrome" EXACT [] synonym: "Erythemato-Vesiculo-Papulous Eruptive Syndromes" EXACT [] synonym: "Gianotti Crosti Syndrome" EXACT [] synonym: "Infantile Papular Acrodermatitides" EXACT [] synonym: "Infantile Papular Acrodermatitis" EXACT [] synonym: "papular acrodermatitis of childhood" EXACT [] synonym: "papulovesicular acrolocated syndrome" EXACT [] synonym: "papulovesicular acrolocated syndromes" EXACT [] xref: EFO:1000664 xref: GARD:5722 xref: MESH:D000169 xref: NCI:C84532 is_a: DOID:2723 ! dermatitis is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:2723 name: dermatitis def: "A skin disease characterized by itchy, erythematous, vesicular, weeping and crusting patches of skin. (DO)" [http://en.wikipedia.org/wiki/Dermatitis "DO", http://www.nlm.nih.gov/medlineplus/eczema.html "DO"] synonym: "dermatitides" EXACT [] synonym: "inflammatory skin disease" EXACT [] synonym: "skin inflammation" EXACT [] xref: EFO:1000636 xref: ICD10CM:L30.9 xref: MESH:D003872 xref: NCI:C2983 is_a: DOID:37 ! skin disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:2725 name: capillary hemangioma def: "A hemangioma that is characterized by the presence of capillary-sized vascular channels without prominent epithelioid endothelial cells. (DO)" [https://eyewiki.aao.org/Capillary_Hemangioma "DO", MESH:D018324] comment: is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:255 ! hemangioma is_a: DOID:930 ! orbital disease synonym: "Capillary haemangioma" EXACT [] synonym: "capillary hemangiomas" EXACT [] synonym: "cellular hemangioma of infancy" EXACT [] synonym: "congenital vascular hamartoma" EXACT [] synonym: "congenital vascular naevus" EXACT [] synonym: "infantile hemangioma" EXACT [] synonym: "juvenile hemangioma" EXACT [] synonym: "strawberry haemangioma" EXACT [] synonym: "strawberry nevus" EXACT [] synonym: "strawberry nevus of skin" EXACT [] xref: ICD10CM:Q82.5 xref: ICDO:9131/0 xref: MESH:D018324 xref: NCI:C6645 xref: NCI:C7457 is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:1271 ! capillary disease is_a: DOID:255 ! hemangioma is_a: DOID:471 ! skin hemangioma is_a: DOID:930 ! orbital disease [Term] id: DOID:2729 name: dyskeratosis congenita alt_id: DOID:0070025 def: "A skin disease characterized by cutaneous pigmentation, premature graying, dystrophy of the nails, leukoplakia of the oral mucosa, continuous lacrimation due to atresia of the lacrimal ducts, often thrombocytopenia, anemia, testicular atrophy in the male carriers and predisposition to cancer. (DO)" [http://en.wikipedia.org/wiki/Dyskeratosis_congenita "DO", http://ghr.nlm.nih.gov/condition/dyskeratosis-congenita "DO"] xref: GARD:10905 xref: MESH:D019871 xref: MIM:PS127550 xref: NCI:C111802 xref: ORDO:1775 is_a: DOID:0080578 ! digenic disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:2730 name: epidermolysis bullosa def: "A vesiculobullous skin disease that is characterized by formation of blisters with only minor skin trauma, which can cause widespread wounds, dehydration, electrolyte abnormalities, and severe infection, frequently develops_from mutations in connective tissue elements, including genes encoding keratin, collagen, and laminin. (DO)" [https://rarediseases.org/rare-diseases/epidermolysis-bullosa/ "DO"] synonym: "acantholysis bullosa" EXACT [] xref: EFO:1000690 xref: GARD:6359 xref: ICD10CM:Q81 xref: ICD10CM:Q81.9 xref: MESH:D004820 xref: NCI:C67383 is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:2731 name: vesiculobullous skin disease def: "A bullous skin disease that is characterized by fluid filled blisters. (DO)" [https://www.aafp.org/afp/2017/0601/p717.html "DO"] synonym: "Vesicular Skin Disease" EXACT [] synonym: "Vesicular Skin Diseases" EXACT [] synonym: "Vesiculobullous Dermatoses" EXACT [] synonym: "vesiculobullous skin diseases" EXACT [] xref: EFO:1000774 xref: MESH:D012872 is_a: DOID:8502 ! bullous skin disease [Term] id: DOID:2732 name: Rothmund-Thomson syndrome def: "A skin disease characterized by poikiloderma, congenital bone defects, and an increased risk of osteosarcoma in childhood and skin cancer later in life that has_material_basis_in homozygous or compound heterozygous mutation in the DNA helicase gene RECQL4 on chromosome 8q24. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20113479/ "DO"] synonym: "congenital poikiloderma" EXACT [] synonym: "poikiloderma congenitale" EXACT [] synonym: "poikiloderma congenitale of Rothmund-Thomson" EXACT [] synonym: "poikiloderma congenitales" EXACT [] synonym: "poikiloderma of Rothmund Thomson" EXACT [] synonym: "Rothmund-Thomson poikiloderma" EXACT [] synonym: "RTS" EXACT [] xref: GARD:4392 xref: MESH:D011038 xref: MIM:PS268400 xref: NCI:C3335 is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:2733 name: skin atrophy synonym: "atrophic condition of skin" EXACT [] synonym: "atrophoderma" EXACT [] xref: EFO:1000766 xref: ICD10CM:L90 xref: ICD10CM:L90.9 xref: NCI:C35163 is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2734 name: keratosis follicularis def: "An autosomal dominantly inherited skin disorder characterized by warty malodorous papules that coalesce into plaques. It is caused by mutations in the ATP2A2 gene encoding SERCA2 protein, one of the SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES. The condition is similar, clinically and histologically, to BENIGN FAMILIAL PEMPHIGUS, another autosomal dominant skin disorder. Both diseases have defective calcium pumps (CALCIUM-TRANSPORTING ATPASES) and unstable desmosomal adhesion junctions (DESMOSOMES) between KERATINOCYTES." [MESH:D007644] synonym: "acantholytic dyskeratotic epidermal nevi" EXACT [] synonym: "Acantholytic Dyskeratotic Epidermal Nevus" EXACT [] synonym: "DAR" EXACT [] synonym: "Darier's Disease" EXACT [] synonym: "Darier disease" EXACT [] synonym: "DARIER DISEASE, ACRAL HEMORRHAGIC TYPE" NARROW [] synonym: "DARIER DISEASE, SEGMENTAL" NARROW [] synonym: "Dariers Disease" EXACT [] synonym: "Darier-White disease" EXACT [] synonym: "DD" EXACT [] xref: EFO:0004124 xref: ICD10CM:E50.8 xref: MESH:D007644 xref: MIM:124200 xref: MONDO:0007417 xref: NCI:C84665 is_a: DOID:161 ! keratosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:2736 name: Hajdu-Cheney syndrome alt_id: MESH:C537586 alt_id: MIM:102500 def: "A bone disease characterized by short stature, coarse and dysmorphic facies, bowing of the long bones, and vertebral anomalies that has_material_basis_in heterozygous mutation in the NOTCH2 gene on chromosome 1p12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21378985 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21378989 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9714016 "DO"] synonym: "acroosteolysis with osteoporosis and changes in skull and mandible" EXACT [] synonym: "arthrodentoosteodysplasia" EXACT [] synonym: "arthrodentoosteodysplasias" EXACT [] synonym: "Cheney syndrome" EXACT [] synonym: "HJCYS" EXACT [] synonym: "multicentric osteolyses" EXACT [] synonym: "multicentric osteolysis" EXACT [] synonym: "NOTCH2-RELATED CONDITION" BROAD [] synonym: "serpentine fibula-polycystic kidney syndrome" EXACT [] synonym: "serpentine fibula syndrome" EXACT [] synonym: "SFPKS" EXACT [] xref: GARD:508 xref: MESH:D031845 xref: NCI:C35545 xref: NCI:C84745 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9001402 ! Acro-Osteolysis is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:2738 name: pseudoxanthoma elasticum alt_id: MIM:177850 alt_id: MIM:264800 def: "A connective tissue disease that is characterized by the accumulation of deposits of calcium and other minerals in elastic fibers, which are a component of connective tissue, this can result in changes in the skin, eyes, cardiovascular system and gastrointestinal system. (DO)" [http://en.wikipedia.org/wiki/Pseudoxanthoma_elasticum "DO", http://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/253/viewAbstract "DO"] synonym: "Groenblad-Strandberg syndrome" EXACT [] synonym: "Gronblad Strandberg Syndrome" EXACT [] synonym: "Incomplete Pseudoxanthoma Elasticum" EXACT [] synonym: "Incomplete Pseudoxanthoma Elasticums" EXACT [] synonym: "Pseudoxanthoma Elasticum, Autosomal Dominant" EXACT [] synonym: "Pseudoxanthoma Elasticum, Forme Fruste" EXACT [] synonym: "PSEUDOXANTHOMA ELASTICUM, HETEROZYGOUS" NARROW [] synonym: "pseudoxanthoma elasticum, modifier of severity of" RELATED [] synonym: "PXE" EXACT [] synonym: "PXE, MODIFIER OF SEVERITY OF" RELATED [] synonym: "XYLT2-RELATED CONDITION" BROAD [] xref: GARD:9643 xref: MESH:D011561 xref: NCI:C85036 xref: ORDO:758 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:65 ! connective tissue disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:2739 name: Gilbert syndrome alt_id: MIM:143500 def: "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity. (DO)" [http://en.wikipedia.org/wiki/Gilbert%27s_syndrome "DO"] synonym: "Arias Type Hyperbilirubinemia" EXACT [] synonym: "Arias type hyperbilirubinemias" EXACT [] synonym: "constitutional hyperbilirubinemia" EXACT [] synonym: "constitutional liver dysfunction" EXACT [] synonym: "Familial Nonhemolytic Jaundice" EXACT [] synonym: "Gilbert's Disease" EXACT [] synonym: "Gilbert's Syndrome" EXACT [] synonym: "Gilbert disease" EXACT [] synonym: "Gilbert-Lereboullet Syndrome" EXACT [] synonym: "Gilbert-Meulengracht syndrome" EXACT [] synonym: "Gilberts Disease" EXACT [] synonym: "Gilberts Syndrome" EXACT [] synonym: "Gilbert Syndrome, Susceptibility To" RELATED [] synonym: "HBLRG" EXACT [] synonym: "hereditary nonhemolytic jaundice" EXACT [] synonym: "Hyperbilirubinemia 1" EXACT [] synonym: "HYPERBILIRUBINEMIA, GILBERT TYPE" EXACT [] synonym: "Hyperbilirubinemia I" EXACT [] synonym: "Meulengracht syndrome" EXACT [] synonym: "unconjugated benign bilirubinemia" EXACT [] xref: EFO:0005556 xref: GARD:6507 xref: ICD10CM:E80.4 xref: MESH:D005878 xref: NCI:C84729 is_a: DOID:2741 ! bilirubin metabolic disorder is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia [Term] id: DOID:2741 name: bilirubin metabolic disorder def: "An inherited metabolic disorder that involves elevated levels of bilirubin resulting from disruption of bilirubin metabolism. (DO)" [http://en.wikipedia.org/wiki/Hereditary_hyperbilirubinemia "DO"] synonym: "bilirubinemia" EXACT [] synonym: "bilirubinemias" EXACT [] synonym: "hyperbilirubinaemia" EXACT [] synonym: "hyperbilirubinemia" EXACT [] synonym: "hyperbilirubinemias" EXACT [] xref: MESH:D006932 xref: MIM:PS237450 xref: NCI:C84761 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:2742 name: auditory system disease def: "A sensory system disease that is characterized by auditory dysfunction located_in the auditory system. (DO)" [https://books.google.com/books?id=r3I0BwAAQBAJ&newbks=1&newbks_redir=0&lpg=PP1&dq=disorders%20of%20auditory%20system&pg=PP1#v=onepage&q=disorders%20of%20auditory%20system&f=false "DO"] synonym: "ear and mastoid disease" EXACT [] synonym: "ear disease" EXACT [] synonym: "ear diseases" EXACT [] synonym: "otological disease" EXACT [] synonym: "otological diseases" EXACT [] synonym: "otologic disease" EXACT [] synonym: "otologic diseases" EXACT [] xref: EFO:1001455 xref: ICD10CM:H93.9 xref: ICD9CM:388.9 xref: MESH:D004427 xref: NCI:C26757 is_a: DOID:0050155 ! sensory system disease is_a: DOID:9007241 ! Otorhinolaryngologic Diseases [Term] id: DOID:2743 name: pyeloureteritis cystica xref: ICD10CM:N28.85 xref: ICD9CM:590.3 xref: RDO:9004014 is_a: DOID:1426 ! ureteral disease is_a: DOID:2744 ! pyelitis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:2744 name: pyelitis def: "Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed." [MESH:D011702] xref: EFO:1001140 xref: MESH:D011702 xref: NCI:C34964 is_a: DOID:10952 ! nephritis is_a: DOID:557 ! kidney disease [Term] id: DOID:2745 name: narcissistic personality disorder def: "A personality disorder that involves an excessive preoccupation with issues of personal adequacy, power, prestige and vanity. (DO)" [http://en.wikipedia.org/wiki/Narcissistic_personality_disorder "DO"] xref: ICD10CM:F60.81 xref: ICD9CM:301.81 xref: NCI:C92635 is_a: DOID:1510 ! personality disorder created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:2746 name: glycogen storage disease V alt_id: MIM:232600 def: "A glycogen storage disease that is characterized by onset of exercise intolerance and muscle cramps in childhood or adolescence and that has_material_basis_in homozygous or compound heterozygous mutation in the PYGM gene, which encodes muscle glycogen phosphorylase, on chromosome 11q13. (DO)" [https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-v/ "DO"] synonym: "glycogenosis 5" EXACT [] synonym: "Glycogen storage disease 5" EXACT [] synonym: "Glycogen Storage Disease Type 5" EXACT [] synonym: "glycogen storage disease type V" EXACT [] synonym: "GSD5" EXACT [] synonym: "GSD V" EXACT [] synonym: "McArdle's Disease" EXACT [] synonym: "McArdle Disease" EXACT [] synonym: "MCARDLE DISEASE, MILD" NARROW [] synonym: "McArdles Disease" EXACT [] synonym: "Mcardle Syndrome" EXACT [] synonym: "McArdle syndromes" EXACT [] synonym: "McArdle Type Glycogen Storage Disease" EXACT [] synonym: "Muscle Glycogen Phosphorylase Deficiency" EXACT [] synonym: "muscle phosphorylase deficiencies" EXACT [] synonym: "Muscle Phosphorylase Deficiency" EXACT [] synonym: "Myophosphorylase deficiencies" EXACT [] synonym: "myophosphorylase deficiency" EXACT [] synonym: "PYGM deficiencies" EXACT [] synonym: "PYGM deficiency" EXACT [] xref: GARD:6528 xref: ICD10CM:E74.04 xref: MESH:D006012 xref: NCI:C84738 xref: ORDO:368 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2747 name: glycogen storage disease def: "A glycogen metabolism disorder that has_material_basis_in enzymes deficiencies necessary in the processing of glycogen synthesis or breakdown within muscles, liver, and other cell types. (DO)" [http://en.wikipedia.org/wiki/Glycogen#Disorders_of_glycogen_metabolism "DO", http://en.wikipedia.org/wiki/Glycogen_storage_disease "DO", http://www.slideshare.net/anjupaed/glcogen-storage-disorders "DO"] synonym: "glycogenoses" EXACT [] synonym: "glycogenosis" EXACT [] synonym: "glycogen storage diseases" EXACT [] xref: ICD10CM:E74.0 xref: ICD9CM:271.0 xref: MESH:D006008 xref: MIM:PS232200 xref: MIM:PS615895 xref: NCI:C61272 is_a: DOID:0050728 ! glycogen metabolism disorder [Term] id: DOID:2748 name: glycogen storage disease III def: "A glycogen storage disease that is characterized by an accumulation of abnormal glycogen with short outer chains and that has_material_basis_in homozygous or compound heterozygous mutation in the AGL gene, which encodes the glycogen debrancher enzyme, on chromosome 1p21. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17047887/ "DO"] synonym: "AGL deficiency" EXACT [] synonym: "amylo-1,6-glucosidase deficiencies" EXACT [] synonym: "Amylo 1,6 Glucosidase Deficiency" EXACT [] synonym: "Cori's Disease" EXACT [] synonym: "Cori Disease" EXACT [] synonym: "Coris Disease" EXACT [] synonym: "Debrancher deficiencies" EXACT [] synonym: "Debrancher Deficiency" EXACT [] synonym: "deficiency of debranching enzyme" EXACT [] synonym: "deficiency of dextrin" EXACT [] synonym: "Forbes Disease" EXACT [] synonym: "glycogen debrancher deficiencies" EXACT [] synonym: "Glycogen Debrancher Deficiency" EXACT [] synonym: "Glycogen Debranching Enzyme Deficiency" EXACT [] synonym: "Glycogenosis 3" EXACT [] synonym: "glycogen storage disease 3" EXACT [] synonym: "glycogen storage disease type 3" EXACT [] synonym: "glycogen storage disease type III" EXACT [] synonym: "GSD3" EXACT [] synonym: "limit dextrinoses" EXACT [] synonym: "limit dextrinosis" EXACT [] xref: GARD:9442 xref: ICD10CM:E74.03 xref: MESH:D006010 xref: MIM:232400 xref: MONDO:0009291 xref: NCI:C84736 xref: ORDO:366 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2749 name: glycogen storage disease Ia alt_id: DOID:9007637 alt_id: MIM:232200 alt_id: OMIA:000418 def: "A glycogen storage disease I that has_material_basis_in homozygous or compound heterozygous mutation in the G6PC gene, which encodes glucose-6-phosphatase (G6Pase), on chromosome 17q21. (DO)" [http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_I "DO", https://pubmed.ncbi.nlm.nih.gov/8211187/ "DO"] synonym: "GLUCOSE-6-PHOSPHATASE DEFICIENCY" EXACT [] synonym: "glycogen storage disease type 1A" EXACT [] synonym: "glycogen storage disease type IA" EXACT [] synonym: "GSD1A" EXACT [] synonym: "GSD IA" EXACT [] synonym: "hepatorenal form of glycogen storage disease" EXACT [] synonym: "hepatorenal glycogenosis" EXACT [] xref: GARD:7864 xref: MESH:C538655 xref: NCI:C162398 xref: ORDO:79258 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081329 ! glycogen storage disease I [Term] id: DOID:275 name: gastric hemangioma synonym: "angioma of stomach" EXACT [] synonym: "gastric angioma" EXACT [] synonym: "hemangioma of stomach" EXACT [] xref: MONDO:0002414 xref: NCI:C5481 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:254 ! hemangioma of intra-abdominal structure is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:2750 name: glycogen storage disease IV alt_id: MIM:232500 def: "A glycogen storage disease that has_material_basis_in homozygous or compound heterozygous mutation in the GBE1 gene, which encodes the glycogen branching enzyme, on chromosome 3p12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17915577/ "DO"] synonym: "amylopectinoses" EXACT [] synonym: "amylopectinosis" EXACT [] synonym: "Andersen's Disease" EXACT [] synonym: "Andersen Disease" EXACT [] synonym: "Andersens Disease" EXACT [] synonym: "Brancher deficiencies" EXACT [] synonym: "Brancher Deficiency" EXACT [] synonym: "brancher deficiency glycogenosis" EXACT [] synonym: "branching-transferase deficiency glycogenosis" EXACT [] synonym: "deficiency of 1,4-alpha-glucan branching enzyme" EXACT [] synonym: "GBE1 deficiencies" EXACT [] synonym: "GBE1 deficiency" EXACT [] synonym: "GBE1-RELATED DISORDER" BROAD [] synonym: "GBE1-RELATED DISORDERS" BROAD [] synonym: "Glycogen Branching Enzyme Deficiency" EXACT [] synonym: "glycogenoses type IV" EXACT [] synonym: "glycogenosis 4" EXACT [] synonym: "glycogenosis IV" EXACT [] synonym: "glycogenosis type IV" EXACT [] synonym: "Glycogen storage disease 4" EXACT [] synonym: "glycogen storage disease due to glycogen branching enzyme deficiency" EXACT [] synonym: "glycogen storage disease type 4" EXACT [] synonym: "glycogen storage disease type IV" EXACT [] synonym: "GSD4" EXACT [] synonym: "GSD due to glycogen branching enzyme deficiency" EXACT [] synonym: "GSD IV" EXACT [] xref: GARD:2520 xref: MESH:D006011 xref: NCI:C84737 xref: ORDO:367 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2751 name: glycogen storage disease VIII def: "A glycogen storage disease that is characterized hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase and results from the lack of expression of phosphorylase-b-kinase activity. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2558039/ "DO"] synonym: "glycogenosis 8" EXACT [] synonym: "glycogenosis type VIII" EXACT [] synonym: "Glycogen storage disease 8" EXACT [] synonym: "glycogen storage disease type VIII" EXACT [] synonym: "hepatic glycogen phosphorylase kinase deficiency" EXACT [] synonym: "hepatic phosphorylase kinase deficiency" EXACT [] synonym: "phosphorylase kinase deficiency of liver" EXACT [] xref: EFO:1000952 xref: MESH:D006015 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:2752 name: glycogen storage disease II def: "A glycogen storage disease that has_material_basis_in deficiency of the lysosomal acid alpha-glucosidase enzyme resulting in damage to muscle and nerve cells due to an accumulation of glycogen in the lysosome. (DO)" [http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_II "DO"] synonym: "acid alpha-glucosidase deficiencies" EXACT [] synonym: "acid alpha-glucosidase deficiency" EXACT [] synonym: "acid maltase deficiencies" EXACT [] synonym: "acid maltase deficiency" EXACT [] synonym: "Acid Maltase Deficiency Disease" EXACT [] synonym: "Adult Glycogen Storage Disease Type II" EXACT [] synonym: "alpha-1,4-glucosidase deficiencies" EXACT [] synonym: "Alpha 1,4 Glucosidase Deficiency" EXACT [] synonym: "alpha-glucosidase deficiencies" EXACT [] synonym: "Alpha-Glucosidase Deficiency" EXACT [] synonym: "AMD" EXACT [] synonym: "Deficiency of Alpha Glucosidase" EXACT [] synonym: "deficiency of glucoamylase" EXACT [] synonym: "deficiency of maltase" EXACT [] synonym: "GAA deficiencies" EXACT [] synonym: "GAA Deficiency" EXACT [] synonym: "generalized glycogenoses" EXACT [] synonym: "Generalized Glycogenosis" EXACT [] synonym: "Glycogenosis 2" EXACT [] synonym: "glycogenosis type 2" EXACT [] synonym: "Glycogenosis Type II" EXACT [] synonym: "Glycogen storage disease 2" EXACT [] synonym: "glycogen storage disease II, adult form" NARROW [] synonym: "glycogen storage disease II, infantile form" NARROW [] synonym: "glycogen storage disease type 2" EXACT [] synonym: "glycogen storage disease type II" EXACT [] synonym: "GSD2" EXACT [] synonym: "GSD II" EXACT [] synonym: "infantile glycogen storage disease type II" NARROW [] synonym: "juvenile glycogen storage disease type II" NARROW [] synonym: "lysosomal alpha-1,4-glucosidase deficiency" EXACT [] synonym: "lysosomal alpha-1,4-glucosidase deficiency disease" EXACT [] synonym: "Pompe's disease" EXACT [] synonym: "Pompe disease" EXACT [] synonym: "Pompes disease" EXACT [] xref: GARD:5714 xref: ICD10CM:E74.02 xref: MESH:D006009 xref: MIM:232300 xref: MONDO:0009290 xref: NCI:C84734 xref: OMIA:000419 xref: ORDO:365 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System [Term] id: DOID:2754 name: glycogen storage disease VI alt_id: MIM:232700 def: "A glycogen storage disease characterized by enlargement of the liver, moderately low blood sugar, elevated levels of acetone and other ketone bodies in the blood and moderate growth retardation. (DO)" [http://en.wikipedia.org/wiki/Glycogen_storage_disease_type_VI "DO", http://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-vi "DO", https://pubmed.ncbi.nlm.nih.gov/25266922/ "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/401/viewAbstract "DO"] synonym: "glycogenosis 6" EXACT [] synonym: "Glycogenosis Type VI" EXACT [] synonym: "glycogenosis VI" EXACT [] synonym: "Glycogen storage disease 6" EXACT [] synonym: "glycogen storage disease type VI" EXACT [] synonym: "GSD6" EXACT [] synonym: "GSD VI" EXACT [] synonym: "hepatic glycogen phosphorylase deficiency" EXACT [] synonym: "hepatophosphorylase deficiency glycogenosis" EXACT [] synonym: "Her Disease" EXACT [] synonym: "Hers Disease" EXACT [] synonym: "liver phosphorylase deficiency syndrome" EXACT [] synonym: "PHOSPHORYLASE DEFICIENCY GLYCOGEN-STORAGE DISEASE OF LIVER" EXACT [] xref: MESH:D006013 xref: NCI:C126875 xref: ORDO:369 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2747 ! glycogen storage disease is_a: DOID:409 ! liver disease [Term] id: DOID:2755 name: Mycobacterium avium complex disease def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Mycobacterium avium complex (MAC), which is transmitted_by inhalation or transmitted_by ingestion of via the respiratory or gastrointestinal tract respectively. The bacteria cause disseminated infection in HIV infected people, while pulmonary disease in immunocompetent persons. (DO)" [https://clinicalinfo.hiv.gov/en/guidelines/adult-and-adolescent-opportunistic-infection/mycobacterium-avium-complex-disease "DO", https://pubmed.ncbi.nlm.nih.gov/35400550/ "DO"] synonym: "Infection due to Mycobacterium intracellulare" EXACT [] synonym: "MAC disease" EXACT [] synonym: "Mycobacterium avium complex" EXACT [] synonym: "Mycobacterium avium infection" EXACT [] synonym: "Mycobacterium Avium-Intracellulare Infection" EXACT [] synonym: "Mycobacterium avium-intracellulare Infections" EXACT [] synonym: "Mycobacterium intracellulare Infection" EXACT [] synonym: "Mycobacterium intracellulare Infections" EXACT [] xref: EFO:0007386 xref: GARD:7123 xref: MESH:D015270 xref: NCI:C36197 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections [Term] id: DOID:2762 name: bone carcinoma def: "A bone cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] xref: NCI:C36082 is_a: DOID:184 ! bone cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:2763 name: ethmoid sinus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the ethmoid sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4726268/ "DO"] synonym: "epidermoid carcinoma of the ethmoidal sinus" EXACT [] xref: NCI:C6065 is_a: DOID:1363 ! ethmoid sinus cancer is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:2764 name: ethmoid sinus adenoid cystic carcinoma synonym: "adenoid cystic carcinoma of ethmoid sinus" EXACT [] synonym: "adenoid cystic carcinoma of the ethmoid sinus" EXACT [] synonym: "EFO:1000246" EXACT [] xref: EFO:1000246 xref: NCI:C6238 is_a: DOID:1363 ! ethmoid sinus cancer [Term] id: DOID:2766 name: ethmoid sinus adenocarcinoma def: "An ethmoid sinus cancer that derives from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of ethmoid sinus" EXACT [] synonym: "adenocarcinoma of the ethmoid sinus" EXACT [NCI2004_11_17:C6237] xref: NCI:C6237 is_a: DOID:1363 ! ethmoid sinus cancer is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:2768 name: transient tic disorder def: "A tic disorder that consists of multiple motor and/or phonic tics with duration of at least 4 weeks, but less than 12 months. (DO)" [http://en.wikipedia.org/wiki/Tic_disorder "DO"] xref: ICD10CM:F95.0 xref: ICD9CM:307.21 xref: NCI:C116767 is_a: DOID:2769 ! tic disorder created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:2769 name: tic disorder def: "A specific developmental disorder that is characterized by the persistent presence of involuntary brief movements or sounds occurring intermittently and unpredictably out of a background of normal motor activity. (DO)" [http://www.tsa-usa.org/Medical/definitions.html "DO", https://www.cdc.gov/ncbddd/tourette/diagnosis.html "DO"] synonym: "Childhood Tic Disorder" EXACT [] synonym: "childhood tic disorders" EXACT [] synonym: "Motor Tic Disorder" EXACT [] synonym: "Motor Tic Disorders" EXACT [] synonym: "PHONIC TICS" EXACT [] synonym: "Post Traumatic Tic Disorder" EXACT [] synonym: "Post-Traumatic Tic Disorders" EXACT [] synonym: "tic disorders" EXACT [] synonym: "Vocal Tic Disorder" EXACT [] synonym: "vocal tic disorders" EXACT [] xref: ICD10CM:F95 xref: ICD9CM:307.20 xref: MESH:D013981 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:480 ! movement disease is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:277 name: chorioangioma synonym: "chorioangiomas" EXACT [] synonym: "EFO:1000480" EXACT [] synonym: "placental hemangioma" EXACT [] xref: EFO:1000480 xref: NCI:C4868 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:254 ! hemangioma of intra-abdominal structure is_a: DOID:780 ! placenta disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:2772 name: irritant dermatitis def: "A contact dermatitis that is characterized by a cutaneous inflammatory reaction to repeated contact with an irritant substance, friction, liquid, or adverse temperature that interacts with the skin and often has_symptom erythema, edema, scaling, pain, pruritis, or burning sensation. (DO)" [https://www.dermcoll.edu.au/atoz/irritant-contact-dermatitis-icd/ "DO"] synonym: "irritant contact dermatitis" EXACT [] synonym: "irritant dermatitides" EXACT [] synonym: "primary irritant dermatitides" EXACT [] synonym: "primary irritant dermatitis" EXACT [] xref: EFO:1000718 xref: ICD10CM:L24 xref: ICD10CM:L24.9 xref: MESH:D017453 xref: NCI:C27151 is_a: DOID:2773 ! contact dermatitis [Term] id: DOID:2773 name: contact dermatitis def: "A type of acute or chronic skin reaction in which sensitivity is manifested by reactivity to materials or substances coming in contact with the skin. It may involve allergic or non-allergic mechanisms." [MESH:D003877] synonym: "contact dermatitides" EXACT [] synonym: "contact dermatitis/eczema" EXACT [] synonym: "Contact Eczema" EXACT [] synonym: "contact hypersensitivities" EXACT [] synonym: "Contact Hypersensitivity" EXACT [] synonym: "Contact Sensitivities" EXACT [] synonym: "contact sensitivity" EXACT [] synonym: "dermatitis venenata" EXACT [] synonym: "skin reaction" BROAD [] xref: EFO:0005319 xref: EFO:0020927 xref: ICD10CM:L25 xref: ICD10CM:L25.9 xref: MESH:D003877 xref: NCI:C26743 is_a: DOID:2723 ! dermatitis is_a: DOID:9004383 ! Eczematous Skin Diseases [Term] id: DOID:2775 name: long bone adamantinoma def: "An adamantinoma that is located_in the long bones and results_in focal epithelial differentiation. (DO)" [http://atlasgeneticsoncology.org/Tumors/AdamantinID5154.html "DO"] synonym: "adamantinoma of long bone" EXACT [] synonym: "adamantinoma of long bones" EXACT [] xref: MIM:102660 is_a: DOID:2776 ! adamantinoma [Term] id: DOID:2776 name: adamantinoma def: "A bone cancer that is located_in almost exclusively in the long bones. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30844202 "DO"] synonym: "adamantinomas" EXACT [] xref: MESH:D050398 xref: NCI:C7644 xref: ORDO:55881 is_a: DOID:184 ! bone cancer [Term] id: DOID:2780 name: rectosigmoid junction neoplasm synonym: "neoplasm of rectosigmoid junction" EXACT [] synonym: "rectosigmoid neoplasm" EXACT [] synonym: "rectosigmoid tumor" EXACT [] xref: NCI:C4877 is_a: DOID:1896 ! sigmoid neoplasm is_a: DOID:1984 ! rectal benign neoplasm created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:2781 name: rectosigmoid cancer synonym: "malignant neoplasm of rectosigmoid" EXACT [] synonym: "malignant rectosigmoid tumor" EXACT [] synonym: "rectosigmoid adenocarcinoma" NARROW [] xref: EFO:1001966 xref: NCI:C7421 is_a: DOID:2782 ! rectosigmoid junction cancer [Term] id: DOID:2782 name: rectosigmoid junction cancer synonym: "malignant neoplasm of rectosigmoid junction" EXACT [] synonym: "malignant tumor of rectosigmoid junction" EXACT [] xref: ICD10CM:C19 xref: ICD9CM:154.0 xref: NCI:C7420 is_a: DOID:12192 ! sigmoid colon cancer is_a: DOID:2780 ! rectosigmoid junction neoplasm [Term] id: DOID:2784 name: lung sarcoma def: "A lung cancer that is located_in the lung and that arises from transformed cells of mesenchymal origin. (DO)" [https://www.sciencedirect.com/topics/medicine-and-dentistry/lung-sarcoma "DO"] synonym: "pulmonary sarcoma" EXACT [] xref: NCI:C4860 is_a: DOID:1115 ! sarcoma is_a: DOID:1324 ! lung cancer created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:2785 name: Dandy-Walker syndrome def: "A cerebellar disease that is characterized by hypoplasia and upward rotation of the cerebellar vermis and cystic dilation of the fourth ventricle. (DO)" [http://omim.org/entry/220200 "DO", https://en.wikipedia.org/wiki/Dandy-Walker_syndrome "DO", https://ghr.nlm.nih.gov/condition/dandy-walker-malformation "DO"] synonym: "atresia of foramina of Magendie and Luschka" EXACT [] synonym: "Dandy-Walker complex" EXACT [] synonym: "Dandy-Walker complices" EXACT [] synonym: "Dandy-Walker deformities" EXACT [] synonym: "Dandy-Walker deformity" EXACT [] synonym: "DANDY-WALKER MALFORMATION" NARROW [] synonym: "DWM" NARROW [] synonym: "DWS" EXACT [] synonym: "Familial Dandy-Walker Syndrome" EXACT [] synonym: "internal hydrocephalus, Dandy-Walker type" EXACT [] synonym: "Luschka-Magendie foramina atresia" EXACT [] synonym: "noncommunicating hydrocephalus, Dandy-Walker Type" EXACT [] xref: EFO:1000890 xref: GARD:6242 xref: ICD10CM:Q03.1 xref: MESH:D003616 xref: MIM:220200 xref: MONDO:0009072 xref: NCI:C75012 is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:2786 ! cerebellar disease is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:2786 name: cerebellar disease def: "A brain disease that is characterized by damage to brain substance located_in cerebellum; has_symptom ataxia, has_symptom dysarthria, and has_symptom cerebellar cognitive affective syndrome. (DO)" [https://en.wikipedia.org/wiki/Cerebellum "DO", https://www.ncbi.nlm.nih.gov/pubmed/15377747 "DO"] synonym: "cerebellar diseases" EXACT [] synonym: "Cerebellar Disorder" EXACT [] synonym: "cerebellar disorders" EXACT [] synonym: "Cerebellar Dysfunction" EXACT [] synonym: "Cerebellar Dysfunctions" EXACT [] synonym: "Cerebellar Syndrome" EXACT [] synonym: "Cerebellar Syndromes" EXACT [] synonym: "Cerebellum Disease" EXACT [] synonym: "cerebellum diseases" EXACT [] xref: MESH:D002526 is_a: DOID:936 ! brain disease [Term] id: DOID:2789 name: parasitic protozoa infectious disease def: "A parasitic infectious disease that is caused by parasitic protozoa which are microorganisms classified as unicellular eukaryotes. (DO)" [http://en.wikipedia.org/wiki/Protozoan "DO", http://en.wikipedia.org/wiki/Protozoan_infection "DO"] synonym: "histomoniases" EXACT [] synonym: "histomoniasis" EXACT [] synonym: "mastigophora infectious disease" EXACT [] synonym: "protozoan infection" EXACT [] synonym: "protozoan infections" EXACT [] synonym: "sarcomastigophora infectious disease" EXACT [] xref: ICD10CM:B64 xref: MESH:D011528 xref: MONDO:0002428 xref: NCI:C34953 is_a: DOID:1398 ! parasitic infectious disease [Term] id: DOID:2790 name: necatoriasis def: "A parasitic helminthiasis infectious disease that involves infection of the small intestine of humans, dogs and cats by the nematode Necator americanus causing abdominal pain, diarrhea, cramps, weight loss and anemia. Cutaneous larvae migrans in humans is characterized by skin ruptures and severe itching. (DO)" [http://en.wikipedia.org/wiki/Necator_americanus "DO"] synonym: "necatoriases" EXACT [] xref: EFO:0007390 xref: ICD10CM:B76.1 xref: MESH:D009332 xref: NCI:C34838 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9006535 ! Hookworm Infections [Term] id: DOID:2797 name: idiopathic interstitial pneumonia def: "A pneumonia located_in the lung parenchyma of unknown cause. (DO)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"] synonym: "diffuse idiopathic pulmonary fibrosis" EXACT [] synonym: "idiopathic fibrosing alveolitis" EXACT [] synonym: "idiopathic interstitial pneumonias" EXACT [] xref: ICD10CM:J84.11 xref: MESH:D054988 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:552 ! pneumonia [Term] id: DOID:2799 name: bronchiolitis obliterans def: "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiolitis%20obliterans "DO"] synonym: "bronchiolitis exudativa" EXACT [] synonym: "bronchiolitis fibrosa obliterans" EXACT [] synonym: "Constrictive Bronchiolitides" EXACT [] synonym: "Constrictive Bronchiolitis" EXACT [] synonym: "Exudative Bronchiolitides" EXACT [] synonym: "Exudative Bronchiolitis" EXACT [] synonym: "Obliterative Bronchiolitis" EXACT [] synonym: "Proliferative Bronchiolitides" EXACT [] synonym: "Proliferative Bronchiolitis" EXACT [] xref: EFO:0007183 xref: GARD:9551 xref: MESH:D001989 xref: NCI:C62580 is_a: DOID:2942 ! bronchiolitis is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:28 name: endocrine system disease def: "A disease of anatomical entity that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. (DO)" [http://en.wikipedia.org/wiki/Endocrine_system "DO"] subset: RGD_JBrowse_slim synonym: "diseases of endocrine system" EXACT [] synonym: "DISORDER OF ENDOCRINE SYSTEM" EXACT [] synonym: "endocrine disease" EXACT [] synonym: "endocrine diseases" EXACT [] synonym: "endocrine system diseases" EXACT [] xref: EFO:0001379 xref: ICD10CM:E34.9 xref: ICD9CM:259.9 xref: MESH:D004700 xref: NCI:C3009 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:2800 name: acute interstitial pneumonia def: "A idiopathic interstitial pneumonia which develops suddenly and is severe. Initially, the lung shows edema, hyaline membranes, and interstitial acute inflammation. Later, it develops loose organizing fibrosis, mostly within alveolar septa and type II pneumocyte hyperplasia. Fever, cough, and difficulty breathing develop over 1 to 2 weeks, typically progressing to acute respiratory failure. (DO)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO", https://www.ncbi.nlm.nih.gov/pubmed/11790668 "DO"] synonym: "accelerated interstitial pneumonia" EXACT [] synonym: "acute interstitial pneumonitis" EXACT [] synonym: "AIP" EXACT [] synonym: "Hamman-Rich disease" EXACT [] synonym: "Hamman-Rich syndrome" EXACT [] synonym: "idiopathic pulmonary fibrosis, acute fatal form" EXACT [] xref: GARD:12835 xref: ICD10CM:J84.114 xref: ICD9CM:516.33 xref: MESH:D000080203 xref: NCI:C35806 xref: ORDO:79126 is_a: DOID:2797 ! idiopathic interstitial pneumonia created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:2801 name: nonspecific interstitial pneumonia def: "An idiopathic interstitial pneumonia that occurs mainly in women, people who do not smoke, and people younger than 50 years with no known cause or risk factors. Lung biopsies may show predominantly interstitial inflammation or fibrosis or a combination of inflammation and fibrosis. A dry cough and shortness of breath develop over 6 to 18 months. Low-grade fever and a feeling of illness (malaise) may occur. (DO)" [http://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh "DO"] synonym: "NSIP" EXACT [] xref: NCI:C35717 xref: RDO:9002147 is_a: DOID:2797 ! idiopathic interstitial pneumonia created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:2810 name: middle lobe syndrome def: "A lung disease that is defined as a recurrent or chronic collapse of the right middle lobe, right upper lobe or lingula of the lung. It is caused by endobronchial tumour, granulomatous infections, lymphadenopathy, foreign bodies, endobronchial silicotic nodules, inspissated mucus associated with cystic fibrosis or inflammation as a result of an infection. (DO)" [http://www.thepcrj.org/journ/aop/pcrj-2008-09-0085.pdf "DO"] synonym: "Brock's syndrome" EXACT [] synonym: "Brocks Syndrome" EXACT [] synonym: "Brock Syndrome" EXACT [] synonym: "middle lobe syndromes" EXACT [] xref: EFO:0007367 xref: MESH:D008878 is_a: DOID:225 ! syndrome is_a: DOID:850 ! lung disease is_a: DOID:9004372 ! Pulmonary Atelectasis [Term] id: DOID:2814 name: malignant neoplasm of acoustic nerve synonym: "malignant tumor of acoustic vestibular nerve" EXACT [] synonym: "malignant tumor of the vestibulocochlear nerve" EXACT [] synonym: "malignant tumour of acoustic vestibular nerve" EXACT [] xref: ICD10CM:C72.4 xref: NCI:C4539 xref: RDO:9005025 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:2815 ! cranial nerve malignant neoplasm is_a: DOID:833 ! auditory system cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:2815 name: cranial nerve malignant neoplasm alt_id: DOID:338 def: "A central nervous system cancer that affects a cranial nerve, develops from schwann cells located_in cranial nerves, has_material_basis_in abnormally proliferating cells. (DO)" [https://link.springer.com/chapter/10.1007/978-3-642-02874-8_15 "DO"] synonym: "malignant cranial nerve neoplasms" EXACT [] synonym: "malignant cranial nerve tumors" EXACT [] synonym: "malignant neoplasm of cranial nerve" EXACT [] synonym: "malignant neoplasm of cranial nerves" EXACT [] synonym: "malignant tumor of cranial nerve" EXACT [] synonym: "malignant tumor of the cranial nerve" EXACT [] xref: EFO:1000884 xref: ICD10CM:C72.50 xref: ICD9CM:192.0 xref: NCI:C2963 xref: NCI:C3571 is_a: DOID:1192 ! peripheral nervous system neoplasm is_a: DOID:3620 ! central nervous system cancer is_a: DOID:9004392 ! Cranial Nerve Neoplasms created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:2816 name: malignant oculomotor nerve tumor synonym: "IIIrd Cranial nerve neoplasm, malignant" EXACT [] synonym: "primary malignant neoplasm of oculomotor nerve" EXACT [] xref: NCI:C6995 is_a: DOID:2817 ! cranial nerve III tumor [Term] id: DOID:2817 name: cranial nerve III tumor def: "A benign or malignant neoplasm involving the oculomotor nerve. (NCI)" [] synonym: "cranial nerve III tumour" EXACT [] synonym: "neoplasm of oculomotor nerve" EXACT [] synonym: "oculomotor nerve tumor" EXACT [] synonym: "oculomotor nerve tumour" EXACT [] xref: NCI:C6994 is_a: DOID:2815 ! cranial nerve malignant neoplasm is_a: DOID:562 ! third cranial nerve disease created_by: rgd creation_date: 2017-02-17T16:02:35Z [Term] id: DOID:2825 name: nose disease def: "Disorders of the nose, general or unspecified." [MESH:D009668] synonym: "disorder of the nose" EXACT [] synonym: "nasal disease" EXACT [] synonym: "Nasal Diseases" EXACT [] synonym: "Nasal Disorder" EXACT [] synonym: "nasal disorders" EXACT [] synonym: "nose diseases" EXACT [] xref: MESH:D009668 xref: MONDO:0002436 is_a: DOID:9007241 ! Otorhinolaryngologic Diseases is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:2828 name: acalculous cholecystitis def: "A cholecystitis characterized by the absence of gallstones. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30487697/ "DO", https://pubmed.ncbi.nlm.nih.gov/34657038/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8362504/ "DO"] synonym: "Acalculous Gallbladder Inflammation" EXACT [] synonym: "acute acalculous cholecystitis" EXACT [] synonym: "acute cholecystitis without calculus" EXACT [] synonym: "cholecystitis without calculus" EXACT [] xref: EFO:1000790 xref: MESH:D042101 xref: NCI:C35578 is_a: DOID:1949 ! cholecystitis [Term] id: DOID:2832 name: geotrichosis def: "An opportunistic mycosis that has_material_basis_in Galactomyces geotrichum, results_in systemic infection in immunocompromised people. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35018329/ "DO"] synonym: "geotrichoses" EXACT [] xref: EFO:0007284 xref: ICD10CM:B48.3 xref: MESH:D005847 is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:2833 name: dehydration polycythemia xref: NCI:C27310 xref: RDO:9002584 is_a: DOID:2834 ! acquired polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:2834 name: acquired polycythemia synonym: "secondary polycythemia" EXACT [] xref: ICD9CM:289.0 xref: NCI:C27178 is_a: DOID:8432 ! polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:2835 name: polycythemia due to hypoxia xref: EFO:0005805 xref: NCI:C27312 xref: RDO:9002586 is_a: DOID:2834 ! acquired polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:2838 name: stress polycythemia synonym: "emotional polycythemia" EXACT [] synonym: "Gaisbock's syndrome" EXACT [] xref: ICD10CM:D75.1 xref: NCI:C27174 is_a: DOID:2834 ! acquired polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:2839 name: erythropoietin polycythemia synonym: "nephrogenous polycythemia" EXACT [] synonym: "polycythaemia due to excess erythropoetin production" EXACT [] synonym: "polycythemia due to excess erythopoetin production" EXACT [] synonym: "secondary polycythemia with excess erythropoietin" EXACT [] xref: NCI:C35434 is_a: DOID:2834 ! acquired polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:2841 name: asthma alt_id: MIM:600807 alt_id: MIM:601690 alt_id: MIM:607277 alt_id: MIM:608584 alt_id: MIM:609958 alt_id: MIM:610906 alt_id: MIM:611064 alt_id: MIM:611403 alt_id: MIM:611960 alt_id: MIM:613207 def: "A bronchial disease that is characterized by chronic inflammation and narrowing of the airways, which is caused by a combination of environmental and genetic factors. The disease has_symptom recurring periods of wheezing (a whistling sound while breathing), has_symptom chest tightness, has_symptom shortness of breath, has_symptom mucus production and has_symptom coughing. (DO)" [http://www.nhlbi.nih.gov/health/dci/Diseases/Asthma/Asthma_WhatIs.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK430901/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK7223/ "DO"] synonym: "adult onset asthma" NARROW [] synonym: "airway hyperresponsiveness" NARROW [] synonym: "allergic airway inflammation" RELATED [] synonym: "AS1" EXACT [] synonym: "ASRT1" RELATED [] synonym: "ASRT2" RELATED [] synonym: "ASRT3" RELATED [] synonym: "ASRT4" RELATED [] synonym: "ASRT5" RELATED [] synonym: "ASRT6" RELATED [] synonym: "ASRT7" RELATED [] synonym: "ASRT8" RELATED [] synonym: "asthma and allergic rhinitis, susceptibility to" RELATED [] synonym: "asthma and atopy, susceptibility to" RELATED [] synonym: "ASTHMA, DIMINISHED RESPONSE TO ANTILEUKOTRIENE TREATMENT IN" NARROW [] synonym: "asthma, protection against" RELATED [] synonym: "Asthma-Related Traits, Susceptibility To, 1" RELATED [] synonym: "Asthma-Related Traits, Susceptibility To, 2" RELATED [] synonym: "Asthma-Related Traits, Susceptibility To, 3" RELATED [] synonym: "Asthma-Related Traits, Susceptibility To, 4" RELATED [] synonym: "Asthma-Related Traits, Susceptibility To, 5" RELATED [] synonym: "Asthma-Related Traits, Susceptibility To, 6" RELATED [] synonym: "Asthma-Related Traits, Susceptibility To, 7" RELATED [] synonym: "Asthma-Related Traits, Susceptibility To, 8" RELATED [] synonym: "asthmas" EXACT [] synonym: "asthma, susceptibility to" RELATED [] synonym: "asthma-traits, susceptibility to asthma, protection against" RELATED [] synonym: "beta-2-adrenoreceptor agonist, reduced response to" RELATED [] synonym: "bronchial asthma" EXACT [] synonym: "childhood athma, susceptibility to" RELATED [] synonym: "rhinoconjunctivitis, susceptibility to" RELATED [] xref: EFO:0000270 xref: EFO:0005414 xref: EFO:1002011 xref: GARD:10246 xref: ICD10CM:J45 xref: ICD9CM:493 xref: MESH:D001249 xref: MONDO:0004979 xref: NCI:C28397 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:1176 ! bronchial disease is_a: DOID:2320 ! obstructive lung disease [Term] id: DOID:2842 name: Jervell-Lange Nielsen syndrome def: "A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2)." [MESH:D029593] synonym: "Cardio-Auditory-Syncope Syndrome" EXACT [] synonym: "Cardioauditory Syndrome of Jervell and Lange Nielsen" EXACT [] synonym: "Deafness, Congenital, and Functional Heart Disease" EXACT [] synonym: "Jervell and Lange Nielsen Syndrome" EXACT [] synonym: "Jervell And Lange-Nielsen Syndrome 1" EXACT [] synonym: "Jervell and Lange-Nielson syndrome" EXACT [SNOMEDCT_2005_07_31:373905003] synonym: "JLNS1" EXACT [] synonym: "KCNQ1-related acquired long QT syndrome" NARROW [] synonym: "KCNQ1-related Jervell and Lange-Nielsen syndrome" NARROW [] synonym: "Prolonged QT Interval in EKG and Sudden Death" EXACT [] synonym: "Surdo Cardiac Syndrome" EXACT [] synonym: "Surdo-Cardiac Syndromes" EXACT [] xref: EFO:0004689 xref: GARD:3048 xref: MESH:D029593 xref: MIM:220400 xref: MIM:PS220400 xref: MONDO:0002441 xref: NCI:C84793 is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:2843 name: long QT syndrome def: "An autosomal genetic disease that is characterized by delayed repolarization of the heart following a heartbeat increases the risk of episodes of torsade de pointes (TDP, a form of irregular heartbeat that originates from the ventricles). (DO)" [http://en.wikipedia.org/wiki/Long_QT_syndrome "DO"] synonym: "acquired long QT syndrome" NARROW [] synonym: "congenital long QT syndrome" NARROW [] synonym: "long QT interval, drug induced, association with" RELATED [] synonym: "long Q-T syndrome" EXACT [] synonym: "long QT syndrome, drug-associated" NARROW [] synonym: "LQT" EXACT [] synonym: "PROLONGED QT INTERVAL" EXACT [] xref: EFO:0005138 xref: GARD:6922 xref: ICD10CM:I45.81 xref: ICD9CM:426.82 xref: MESH:D008133 xref: MIM:PS192500 xref: MONDO:0019171 xref: NCI:C34786 xref: NCI:C85049 xref: ORDO:768 is_a: DOID:0060036 ! intrinsic cardiomyopathy is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:2846 name: bruxism def: "A sleep disorder that involves involuntarily grinding or clenching of the teeth while sleeping. (DO)" [http://en.wikipedia.org/wiki/Bruxism "DO"] synonym: "bruxism - teeth grinding" EXACT [] synonym: "teeth grinding" EXACT [] synonym: "teeth grinding disorder" EXACT [] synonym: "teeth grinding disorders" EXACT [] xref: ICD10CM:F45.8 xref: ICD10CM:G47.63 xref: ICD9CM:327.53 xref: MESH:D002012 xref: NCI:C73511 is_a: DOID:1091 ! tooth disease is_a: DOID:535 ! sleep disorder [Term] id: DOID:285 name: hairy cell leukemia def: "A chronic lymphocytic leukemia that is characterized by over production of B cells (lymphocytes) by the bone marrow where the B cells appear hairy under a microscope. (DO)" [https://en.wikipedia.org/wiki/Hairy_cell_leukemia "DO", https://www.mayoclinic.org/diseases-conditions/hairy-cell-leukemia/symptoms-causes/syc-20372956 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30723113 "DO"] synonym: "EFO:1000956" EXACT [] synonym: "hairy cell leukemias" EXACT [] synonym: "Leukemic Reticuloendothelioses" EXACT [] synonym: "leukemic reticuloendotheliosis" EXACT [] xref: EFO:1000956 xref: GARD:6560 xref: ICD10CM:C91.4 xref: ICD9CM:202.4 xref: ICDO:9940/3 xref: MESH:D007943 xref: NCI:C7402 is_a: DOID:1040 ! chronic lymphocytic leukemia [Term] id: DOID:2855 name: hyperthyroxinemia def: "A thyroid gland disease that is characterized by elevated thyroxine levels in the blood. (DO)" [https://en.wikipedia.org/wiki/Hyperthyroxinemia "DO"] synonym: "Hyperthyroxinemias" EXACT [] xref: EFO:0004127 xref: MESH:D006981 xref: NCI:C131850 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:2856 name: euthyroid sick syndrome def: "Conditions of abnormal THYROID HORMONES release in patients with apparently normal THYROID GLAND during severe systemic illness, physical TRAUMA, and psychiatric disturbances. It can be caused by the loss of endogenous hypothalamic input or by exogenous drug effects. The most common abnormality results in low T3 THYROID HORMONE with progressive decrease in THYROXINE; (T4) and TSH. Elevated T4 with normal T3 may be seen in diseases in which THYROXINE-BINDING GLOBULIN synthesis and release are increased." [MESH:D005067] synonym: "euthyroid sick syndromes" EXACT [] synonym: "High T4 Syndrome" EXACT [] synonym: "High T4 Syndromes" EXACT [] synonym: "Low T3 and Low T4 Syndrome" EXACT [] synonym: "Low T3 High T4 Syndrome" EXACT [] synonym: "Low T3 Low T4 Syndrome" EXACT [] synonym: "Low T3 Syndrome" EXACT [] synonym: "non-thyroidal illness syndrome" EXACT [] synonym: "non-thyroidal illness syndromes" EXACT [] xref: EFO:1000931 xref: ICD10CM:E07.81 xref: ICD9CM:790.94 xref: MESH:D005067 xref: NCI:C113170 is_a: DOID:225 ! syndrome is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:2859 name: hemoglobin C disease alt_id: DOID:9000130 def: "A disease characterized by compensated hemolysis with a normal hemoglobin level or a mild to moderate anemia. There may be intermittent abdominal discomfort, splenomegaly, and slight jaundice." [MESH:D006445] synonym: "Hb-C disease" EXACT [] synonym: "hemoglobin C" EXACT [] synonym: "hemoglobin C diseases" EXACT [] xref: GARD:2640 xref: MESH:C531699 xref: MESH:D006445 xref: NCI:C34675 is_a: DOID:2860 ! hemoglobinopathy [Term] id: DOID:2860 name: hemoglobinopathy alt_id: RDO:0004839 def: "A group of inherited disorders characterized by structural alterations within the hemoglobin molecule." [MESH:D006453] synonym: "abnormal hemoglobin" RELATED [] synonym: "HBB-related condition" NARROW [] synonym: "Hb Footscray" RELATED [] synonym: "HEMOGLOBIN ABRUZZO" RELATED [] synonym: "Hemoglobin Adana" RELATED [] synonym: "Hemoglobin Aghia Sophia" RELATED [] synonym: "Hemoglobin Agrinio" RELATED [] synonym: "HEMOGLOBIN ATHENS-GEORGIA" RELATED [] synonym: "HEMOGLOBIN BEIRUT" RELATED [] synonym: "HEMOGLOBIN BIRMINGHAM (USA)" RELATED [] synonym: "HEMOGLOBIN BORAS" RELATED [] synonym: "HEMOGLOBIN BROUSSAIS" RELATED [] synonym: "HEMOGLOBIN BUFFALO" RELATED [] synonym: "HEMOGLOBIN BUGINESE-X" RELATED [] synonym: "Hemoglobin Clinico-Madrid" RELATED [] synonym: "HEMOGLOBIN DEACONESS" RELATED [] synonym: "Hemoglobin Footscray" RELATED [] synonym: "HEMOGLOBIN HASHARON" RELATED [] synonym: "HEMOGLOBIN HIKARI" RELATED [] synonym: "HEMOGLOBIN HOPKINS 2" RELATED [] synonym: "Hemoglobin Icaria" RELATED [] synonym: "HEMOGLOBIN J (BROUSSAIS)" RELATED [] synonym: "HEMOGLOBIN J (LOME)" RELATED [] synonym: "HEMOGLOBIN K (WOOLWICH)" RELATED [] synonym: "HEMOGLOBIN L (FERRARA)" RELATED [] synonym: "HEMOGLOBIN LESLIE" RELATED [] synonym: "HEMOGLOBIN MONTGOMERY" RELATED [] synonym: "HEMOGLOBIN O (BUGINESE-X)" RELATED [] synonym: "HEMOGLOBIN O (INDONESIA)" RELATED [] synonym: "HEMOGLOBIN O (OLIVIERE)" RELATED [] synonym: "HEMOGLOBIN OLIVIERE" RELATED [] synonym: "hemoglobinopathies" EXACT [] synonym: "HEMOGLOBIN RALEIGH" RELATED [] synonym: "HEMOGLOBIN SAALE" RELATED [] synonym: "Hemoglobin Sallanches" RELATED [] synonym: "HEMOGLOBIN SEAL ROCK" RELATED [] synonym: "HEMOGLOBIN SEALY" RELATED [] synonym: "HEMOGLOBIN SHELBY" RELATED [] synonym: "HEMOGLOBIN SINAI" RELATED [] synonym: "HEMOGLOBIN SUN PRAIRIE" RELATED [] synonym: "HEMOGLOBIN TENDE" RELATED [] synonym: "HEMOGLOBIN TYNE" RELATED [] synonym: "hemoglobin Val de Marne" RELATED [] synonym: "HEMOGLOBIN WACO" RELATED [] synonym: "HEMOGLOBIN YUSA" RELATED [] xref: GARD:12455 xref: MESH:D006453 xref: NCI:C3092 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:2861 name: congenital nonspherocytic hemolytic anemia def: "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in GLUCOSE-6-PHOSPHATE ISOMERASE; PYRUVATE KINASE; and GLUCOSE-6-PHOSPHATE DEHYDROGENASE." [MESH:D000746] synonym: "chronic nonspherocytic hemolytic anemia" EXACT [] synonym: "CNSHA" EXACT [] synonym: "congenital nonspherocytic hemolytic anaemia" EXACT [] synonym: "HEMOGLOBIN MANUKAU" RELATED [] synonym: "hereditary nonspherocytic hemolytic anaemia" EXACT [] synonym: "hereditary nonspherocytic hemolytic anemia" EXACT [] synonym: "HNSHA" EXACT [] xref: EFO:1000641 xref: MESH:D000746 xref: ORDO:712 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:2862 name: glucosephosphate dehydrogenase deficiency def: "A carbohydrate metabolic disorder that is characterized by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH). (DO)" [http://en.wikipedia.org/wiki/Glucosephosphate_dehydrogenase_deficiency "DO"] synonym: "deficiency of G-6PD" EXACT [] synonym: "deficiency of glucose 6 phosphate dehydrogenase" EXACT [] synonym: "G6PD deficiencies" EXACT [] synonym: "G6PD Deficiency" EXACT [] synonym: "G6PD IOWA" RELATED [] synonym: "G6PD IOWA CITY" RELATED [] synonym: "G6PD SPRINGFIELD" RELATED [] synonym: "G6PD WALTER REED" RELATED [] synonym: "Glucose-6-Phosphate Dehydrogenase Deficiencies" EXACT [] synonym: "Glucose 6 Phosphate Dehydrogenase Deficiency" EXACT [] synonym: "Glucosephosphate Dehydrogenase Deficiencies" EXACT [] synonym: "GPD Deficiencies" EXACT [] synonym: "GPD deficiency" EXACT [] synonym: "hemolytic anemia due to G6PD deficiency" EXACT [] xref: EFO:0007287 xref: GARD:6520 xref: MESH:D005955 xref: NCI:C98933 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:2870 name: endometrial adenocarcinoma def: "An endometrial carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of endometrium" EXACT [] synonym: "adenocarcinoma of the endometrium" EXACT [] synonym: "adenocarcinoma of uterus" EXACT [] synonym: "EEC" EXACT [] synonym: "EFO:0005232" EXACT [] synonym: "endometrial adenoacanthoma" EXACT [] synonym: "endometrial endometrioid adenocarcinoma" EXACT [] synonym: "ENDOMETRIAL ENDOMETRIOID ADENOCARCINOMA, VARIANT WITH SQUAMOUS DIFFERENTIATION" NARROW [] synonym: "endometrial endometrioid adenocarcinoma with squamous differentiation" NARROW [] synonym: "endometrial endometrioid carcinoma" EXACT [] synonym: "endometrioid adenoma or carcinoma" EXACT [] synonym: "endometrioid adenomas and carcinomas" BROAD [] synonym: "endometrioid carcinoma of endometrium" EXACT [] synonym: "endometrioid endometrial cancer" BROAD [] synonym: "Type I endometrial carcinoma" EXACT [] xref: EFO:0005232 xref: EFO:1000233 xref: EFO:1001514 xref: EFO:1001953 xref: NCI:C3769 xref: NCI:C6287 xref: NCI:C6290 xref: NCI:C63961 xref: NCI:C7359 is_a: DOID:299 ! adenocarcinoma is_a: DOID:9004265 ! Endometrioid Carcinomas created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:2871 name: endometrial carcinoma def: "A endometrial cancer that is located_in the tissue lining the uterus. (DO)" [http://www.cancer.gov/cancertopics/types/endometrial "DO"] synonym: "carcinoma of endometrium" EXACT [] synonym: "carcinoma of the Endometrium" EXACT [] synonym: "EFO:1001512" EXACT [] synonym: "endometrial carcinomas" EXACT [] synonym: "endometrioid carcinoma of female Reproductive system" EXACT [] synonym: "endometrium carcinoma" EXACT [] synonym: "endometrium carcinomas" EXACT [] xref: EFO:0004230 xref: EFO:1000242 xref: EFO:1001512 xref: NCI:C7558 is_a: DOID:1380 ! endometrial cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:2876 name: laryngeal squamous cell carcinoma def: "A laryngeal carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "EFO:0006352" EXACT [] synonym: "epidermoid carcinoma of the larynx" EXACT [] synonym: "squamous cell carcinoma of larynx" EXACT [] xref: EFO:0006352 xref: NCI:C4044 xref: ORDO:494550 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2600 ! laryngeal carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:2877 name: larynx sarcoma def: "A larynx cancer that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. (DO)" [https://www.sciencedirect.com/science/article/pii/S1726490109701893 "DO"] synonym: "sarcoma of larynx" EXACT [] xref: NCI:C6020 is_a: DOID:1115 ! sarcoma is_a: DOID:2596 ! larynx cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:2879 name: nodular degeneration of cornea xref: ICD10CM:H18.45 xref: ICD9CM:371.46 is_a: DOID:1237 ! corneal degeneration created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:288 name: endometriosis of uterus alt_id: MIM:600458 def: "A uterine disease that is characterized by the presence of endometrial tissue grows outside of the endometrium, such as into the myometrium. (DO)" [https://en.wikipedia.org/wiki/Endometriosis "DO"] synonym: "adenomyoses" EXACT [] synonym: "adenomyosis" EXACT [] synonym: "endometriosis interna" EXACT [] synonym: "endometriosis of myometrium" EXACT [] synonym: "myometrium endometriosis" EXACT [] synonym: "uterine adenomyosis" EXACT [] xref: EFO:1001757 xref: ICD10CM:N80.0 xref: ICD9CM:617.0 xref: MESH:D062788 xref: NCI:C6996 is_a: DOID:1005 ! endometrial disease is_a: DOID:289 ! endometriosis is_a: DOID:345 ! uterine disease [Term] id: DOID:2883 name: prostatic adenoma def: "A male reproductive organ benign neoplasm that derives_from glandular epithelial cells and that is located_in the prostate. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33102081/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24649766 "DO"] synonym: "adenoma of prostate" EXACT [] synonym: "benign adenoma of prostate" EXACT [] synonym: "prostate adenoma" EXACT [] synonym: "prostatic adenomas" EXACT [] xref: EFO:0000284 xref: NCI:C4795 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:657 ! adenoma is_a: DOID:9002304 ! Prostatic Neoplasms created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:2885 name: benign prostate phyllodes tumor synonym: "benign Phyllodes neoplasm of the prostate" EXACT [NCI2004_11_17:C5532] synonym: "benign prostate phyllodes tumour" EXACT [] synonym: "Phyllodes neoplasm of the prostate" EXACT [NCI2004_11_17:C7574] synonym: "prostate phyllodes tumor" EXACT [] synonym: "prostate phyllodes tumour" EXACT [] xref: NCI:C5532 xref: NCI:C7574 xref: RDO:9005065 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:9004240 ! Phyllodes Tumor created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:2887 name: prostate leiomyoma def: "A male reproductive organ benign neoplasm that derives_from smooth muscle cells and that is located_in the prostate. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5037125/ "DO"] synonym: "prostatic leiomyoma" EXACT [] xref: NCI:C5544 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:47 ! prostate disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:2889 name: retrocochlear disease def: "Pathological processes involving the VESTIBULOCOCHLEAR NERVE; BRAINSTEM; or CENTRAL NERVOUS SYSTEM. When hearing loss is due to retrocochlear pathology, it is called retrocochlear hearing loss." [MESH:D012181] synonym: "retrocochlear diseases" EXACT [] synonym: "Retrocochlear Hearing Loss" EXACT [] xref: MESH:D012181 xref: RDO:0004713 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:289 name: endometriosis alt_id: MIM:131200 def: "A female reproductive system disease characterized by the growth of endometrial tissue outside the uterine body. (DO)" [https://en.wikipedia.org/?title=Endometriosis "DO", https://www.ncbi.nlm.nih.gov/pubmed/20574791 "DO"] synonym: "ENDO1" EXACT [] synonym: "endometrioma" EXACT [] synonym: "endometriomas" EXACT [] synonym: "endometrioses" EXACT [] synonym: "ENDOMETRIOSIS, SUSCEPTIBILITY TO, 1" RELATED [] xref: EFO:0001065 xref: ICD10CM:N80 xref: ICD10CM:N80.9 xref: ICD9CM:617 xref: MESH:D004715 xref: NCI:C3014 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:2891 name: thyroid adenoma def: "An endocrine organ benign neoplasm that is located_in the thyroid and derives_from glandular epithelial cells. (DO)" [https://www.sciencedirect.com/topics/veterinary-science-and-veterinary-medicine/thyroid-adenoma "DO"] synonym: "adenoma of thyroid gland" EXACT [] synonym: "thyroid adenomas" EXACT [] xref: EFO:0000499 xref: EFO:0003841 xref: NCI:C3502 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:657 ! adenoma is_a: DOID:9007496 ! Thyroid Benign Neoplasms created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:2892 name: exocervical carcinoma def: "A cervix carcinoma that is located_in the exocervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14675699 "DO"] synonym: "carcinoma of exocervix" EXACT [] synonym: "carcinoma of the Exocervix" EXACT [NCI2004_11_17:C7453] xref: NCI:C7453 is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:2893 name: cervix carcinoma def: "A cervical cancer that is located_in the cervix uteri or located_in the cervical area and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Cervical_cancer "DO"] synonym: "carcinoma cervix uteri" EXACT [] synonym: "carcinoma of cervix" EXACT [] synonym: "carcinoma of the cervix uteri" EXACT [] synonym: "cervical carcinoma" EXACT [] synonym: "EFO:0001061" EXACT [] synonym: "HPV-associated cervical carcinoma" NARROW [] xref: EFO:0001061 xref: EFO:1002015 xref: NCI:C24068 xref: NCI:C9039 is_a: DOID:305 ! carcinoma is_a: DOID:4362 ! cervical cancer [Term] id: DOID:2907 name: Goldenhar syndrome alt_id: MIM:141400 alt_id: MIM:164210 def: "A syndrome that is characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. (DO)" [http://en.wikipedia.org/wiki/Goldenhar_syndrome "DO", http://www.healthline.com/galecontent/goldenhar-syndrome "DO", https://www.faces-cranio.org/goldenhar "DO"] synonym: "CFM1" EXACT [] synonym: "Craniofacial Microsomia" EXACT [] synonym: "craniofacial microsomia 1" EXACT [] synonym: "craniofacial microsomias" EXACT [] synonym: "Facioauriculovertebral Dysplasia" EXACT [] synonym: "facioauriculovertebral dysplasias" EXACT [] synonym: "Facioauriculovertebral Sequence" EXACT [] synonym: "facioauriculovertebral sequences" EXACT [] synonym: "facio-auriculo-vertebral spectrum" EXACT [] synonym: "FAV SEQUENCE" EXACT [] synonym: "First and Second Branchial Arch Syndrome" EXACT [] synonym: "first and second pharyngeal arch syndromes" EXACT [] synonym: "first arch syndrome" EXACT [] synonym: "Goldenhar Disease" EXACT [] synonym: "Goldenhar Gorlin Syndrome" EXACT [] synonym: "Goldenhar-Gorlin Syndromes" EXACT [] synonym: "Goldenhar Syndrome with Ipsilateral Radial Defect" EXACT [] synonym: "Hemifacial Microsomia" EXACT [] synonym: "Hemifacial Microsomia with Radial Defects" EXACT [] synonym: "HFM" EXACT [] synonym: "Lateral Facial Dysplasia" EXACT [] synonym: "Lateral Facial Dysplasias" EXACT [] synonym: "Microsomia Hemifacial Radial Defects" EXACT [] synonym: "Moeschler Clarren Syndrome" EXACT [] synonym: "OAV (oculoauriculovertebral) dysplasia" EXACT [] synonym: "OAV DYSPLASIA" EXACT [] synonym: "OAVS" EXACT [] synonym: "OAVS with Radial Defect" EXACT [] synonym: "Oculoauriculovertebral Dysplasia" EXACT [] synonym: "Oculoauriculovertebral Dysplasias" EXACT [] synonym: "Oculoauriculovertebral Spectrum" EXACT [] synonym: "Oculoauriculovertebral Spectrums" EXACT [] synonym: "Oculoauriculovertebral Spectrum with Radial Defect" EXACT [] synonym: "Oculoauriculovertebral Syndrome" EXACT [] synonym: "oral-mandibular-auricular syndrome" EXACT [] synonym: "oral-mandibular-auricular syndromes" EXACT [] synonym: "otomandibular dysostoses" EXACT [] synonym: "otomandibular dysostosis" EXACT [] xref: GARD:6540 xref: MESH:D006053 xref: NCI:C84740 xref: ORDO:374 is_a: DOID:225 ! syndrome is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:2908 name: Treacher Collins syndrome def: "A syndrome that is characterized by bilateral and symmetric downslanting palpebral fissures, malar hypoplasia, micrognathia, and external ear abnormalities. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK1532/ "DO"] synonym: "Franceschetti syndrome" EXACT [] synonym: "Mandibulofacial Dysostosis (MFD1)" EXACT [] synonym: "MFD1" EXACT [] synonym: "TCS" EXACT [] synonym: "Treacher Collins syndrome, dominant" NARROW [] xref: EFO:0003954 xref: GARD:9124 xref: ICD10CM:Q75.4 xref: MIM:PS154500 xref: MONDO:0002457 xref: NCI:C75018 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:2913 name: acute pancreatitis def: "A pancreatitis that is characterized by inflammation of the pancreas over a short period of time and has symptoms of severe abdominal pain, nausea, vomiting, diarrhea, fever, and shock. (DO)" [https://www.nhs.uk/conditions/acute-pancreatitis/ "DO"] synonym: "AAP" NARROW [] synonym: "asparaginase-induced acute pancreatitis" NARROW [] synonym: "MAP" NARROW [] synonym: "mild acute pancreatitis" NARROW [] synonym: "SAP" NARROW [] synonym: "severe acute pancreatitis" NARROW [] xref: EFO:1000652 xref: EFO:1001507 xref: ICD10CM:K85 xref: ICD9CM:577.0 xref: NCI:C95437 is_a: DOID:4989 ! pancreatitis [Term] id: DOID:2914 name: immune system disease def: "A disease of anatomical entity that is located_in the immune system. (DO)" [http://en.wikipedia.org/wiki/Immune_system "DO"] subset: RGD_JBrowse_slim synonym: "diseases of immune system" EXACT [] synonym: "hyper-inflammatory immune response" NARROW [] synonym: "Immune Disease" EXACT [] synonym: "Immune Diseases" EXACT [] synonym: "Immune Disorder" EXACT [] synonym: "Immune Disorders" EXACT [] synonym: "Immune System Diseases" EXACT [] synonym: "Immunological Disease" EXACT [] synonym: "Immunological Diseases" EXACT [] synonym: "Immunologic Disease" EXACT [] synonym: "immunologic diseases" EXACT [] xref: EFO:0000540 xref: EFO:0007926 xref: ICD10CM:D89.9 xref: ICD9CM:279.9 xref: MESH:D007154 is_a: DOID:7 ! disease of anatomical entity is_a: DOID:9003859 ! Immune & Inflammatory Diseases [Term] id: DOID:2916 name: hypersensitivity reaction type IV disease def: "A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response. (DO)" [https://en.wikipedia.org/wiki/Type_IV_hypersensitivity "DO"] synonym: "immunoproliferative disease" RELATED [] xref: ICD10CM:C88.9 is_a: DOID:0060056 ! hypersensitivity reaction disease [Term] id: DOID:2917 name: cryoglobulinemia def: "A hypersensitivity reaction type IV disease that involves large amounts of cryoglobulins in the blood which become thick or gel-like in cold temperatures. (DO)" [http://en.wikipedia.org/wiki/Cryoglobulinemia "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000540.htm "DO"] synonym: "cryoglobulinemias" EXACT [] synonym: "cryoimmunoglobulinaemia" EXACT [] xref: EFO:0005846 xref: GARD:6217 xref: ICD10CM:D89.1 xref: MESH:D003449 xref: NCI:C26736 is_a: DOID:2916 ! hypersensitivity reaction type IV disease is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:9003571 ! Paraproteinemias [Term] id: DOID:292 name: lacrimal system cancer synonym: "lacrimal system neoplasm" EXACT [] synonym: "neoplasm of lacrimal system" EXACT [] synonym: "tumor of the lacrimal system" EXACT [] xref: NCI:C5102 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:2174 ! ocular cancer created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:2920 name: membranoproliferative glomerulonephritis def: "Chronic glomerulonephritis characterized histologically by proliferation of MESANGIAL CELLS, increase in the MESANGIAL EXTRACELLULAR MATRIX, and a thickening of the glomerular capillary walls. This may appear as a primary disorder or secondary to other diseases including infections and autoimmune disease SYSTEMIC LUPUS ERYTHEMATOSUS. Various subtypes are classified by their abnormal ultrastructures and immune deposits. Hypocomplementemia is a characteristic feature of all types of MPGN." [MESH:D015432] synonym: "chronic glomerulonephritis, lobular" EXACT [MTHICD9_2006:582.2] synonym: "Dense Deposit Disease" EXACT [] synonym: "Hypocomplementemic Glomerulonephritides" EXACT [] synonym: "Hypocomplementemic Glomerulonephritis" EXACT [] synonym: "Lobular glomerulonephritis" EXACT [SNOMEDCT_2005_07_31:80321008] synonym: "Membranoproliferative Glomerulonephritides" EXACT [] synonym: "Membranoproliferative Glomerulonephritis, Type I" EXACT [] synonym: "Membranoproliferative Glomerulonephritis Type II" NARROW [] synonym: "Membranoproliferative Glomerulonephritis, Type III" NARROW [] synonym: "MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS WITH COMPLEMENT FACTOR H DEFICIENCY" NARROW [] synonym: "Mesangiocapillary Glomerulonephritides" EXACT [] synonym: "Mesangiocapillary Glomerulonephritis" EXACT [] synonym: "Mesangiocapillary Glomerulonephritis, Type I" EXACT [] synonym: "MESANGIOCAPILLARY GLOMERULONEPHRITIS, TYPE II" NARROW [] synonym: "MPGN" EXACT [] synonym: "NON-IMMUNOGLOBULIN-MEDIATED MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS" NARROW [] synonym: "Subendothelial Membranoproliferative Glomerulonephritis" EXACT [] xref: GARD:11982 xref: MESH:D015432 xref: MIM:PS137950 xref: NCI:C34644 is_a: DOID:2914 ! immune system disease is_a: DOID:9005665 ! Chronic Mesangial Proliferative Glomerulonephritis [Term] id: DOID:2921 name: glomerulonephritis def: "A nephritis that causes inflammation of the glomeruli located_in kidney. (DO)" [http://en.wikipedia.org/wiki/Glomerulonephritis "DO"] synonym: "Bright Disease" EXACT [] synonym: "Glomerulonephritides" EXACT [] synonym: "Primary Glomerulonephritis" RELATED [] xref: GARD:6516 xref: MESH:D005921 xref: MONDO:0002462 xref: NCI:C26784 is_a: DOID:10952 ! nephritis is_a: DOID:9000104 ! Glomerular Diseases [Term] id: DOID:2926 name: Klippel-Trenaunay syndrome alt_id: MESH:C536889 alt_id: MIM:149000 def: "A syndrome that is characterized by large cutaneous hemangiomata with hypertrophy of the related bones and soft tissues. (DO)" [http://en.wikipedia.org/wiki/Klippel%E2%80%93Tr%C3%A9naunay_syndrome "DO", http://omim.org/entry/149000 "DO"] synonym: "Angio Osteohypertrophy Syndrome" EXACT [] synonym: "Angioosteohypertrophy Syndrome" EXACT [] synonym: "Angioosteohypertrophy Syndromes" EXACT [] synonym: "angio-osteohypertrophy syndromes" EXACT [] synonym: "Congenital Dysplastic Angiopathies" EXACT [] synonym: "Congenital Dysplastic Angiopathy" EXACT [] synonym: "Haemangiectatic hypertrophy" EXACT [] synonym: "Klippel Trenaunay Disease" EXACT [] synonym: "Klippel-Trenaunay Syndromes" EXACT [] synonym: "Klippel-Trenaunay-Weber syndrome" EXACT [] synonym: "Klippel Trénaunay Weber Syndrome" EXACT [] synonym: "KTS" EXACT [] synonym: "KTW Syndrome" EXACT [] synonym: "KTW syndromes" EXACT [] synonym: "Weber Klippel Trenaunay" EXACT [] xref: EFO:0007334 xref: MESH:D007715 xref: NCI:C84801 xref: ORDO:90308 is_a: DOID:225 ! syndrome is_a: DOID:9004079 ! Angiomatosis [Term] id: DOID:2929 name: Newcastle disease def: "A viral infectious disease that results_in infection in birds and humans, has_material_basis_in Avian orthoavulavirus 1, which is transmitted_by contact with feces and urine of an infected bird, or transmitted_by fomites. The infection has_symptom conjunctivitis, has_symptom headache, and has_symptom lacrimation in humans, and has_symptom gasping, has_symptom coughing, has_symptom twisting of head and neck, has_symptom circling, has_symptom complete paralysis, has_symptom watery diarrhea, and has_symptom reduced egg production in birds. (DO)" [https://en.wikipedia.org/wiki/Virulent_Newcastle_disease "DO", https://www.agric.wa.gov.au/livestock-biosecurity/newcastle-disease "DO", https://www.ncbi.nlm.nih.gov/articles/PMC1526237/ "DO", https://www.ncbi.nlm.nih.gov/articles/PMC1822603/ "DO"] synonym: "Newcastle's disease" EXACT [] synonym: "pseudo-fowlpest" EXACT [] xref: EFO:0007395 xref: MESH:D009521 xref: NCI:C34849 is_a: DOID:9002653 ! Avulavirus Infections is_a: DOID:9006114 ! Bird Diseases [Term] id: DOID:293 name: lacrimal gland carcinoma synonym: "carcinoma of the lacrimal gland" EXACT [] xref: NCI:C6129 is_a: DOID:294 ! lacrimal gland cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:2934 name: aleutian mink disease def: "A viral infectious disease that results_in inflammatory destruction located_in blood vessels of minks and rarely in humans, which has_material_basis_in Aleutian mink disease virus. The infection has_symptom weight loss, has_symptom hepatomegaly, has_symptom enlarged spleen, and has_symptom anemia. (DO)" [http://en.wikipedia.org/wiki/Aleutian_Disease "DO", http://www.cdc.gov/eid/content/15/12/2040.htm "DO"] synonym: "Aleutian disease" EXACT [] synonym: "Aleutian Disease of Mink" EXACT [] xref: EFO:0007139 xref: MESH:D000453 is_a: DOID:2935 ! Chediak-Higashi syndrome is_a: DOID:9000331 ! Parvoviridae Infections is_a: DOID:9004448 ! Slow Virus Diseases is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:2935 name: Chediak-Higashi syndrome alt_id: MESH:C531649 alt_id: MIM:214500 def: "A syndrome characterized by oculocutaneous albinism, immune deficiency, coagulation deficiency and neuropathy and that has_material_basis_in homozygous or compound heterozygous mutation in the lysosomal trafficking regulator gene (LYST) on chromosome 1q42. (DO)" [http://ghr.nlm.nih.gov/condition/chediak-higashi-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/25129365 "DO"] synonym: "AUTOINFLAMMATORY SYNDROME" NARROW [] synonym: "Chediak - Steinbrinck anomaly" EXACT [] synonym: "Chediak-Steinbrinck-Higashi syndrome" EXACT [] synonym: "CHS" EXACT [] synonym: "Chédiak-Higashi syndrome" EXACT [] synonym: "LYST-RELATED CONDITION" EXACT [] synonym: "neutropenia and hyperlymphocytosis with large granular lymphocytes" EXACT [] synonym: "oculocutaneous albinism with leukocyte defect" EXACT [] xref: GARD:6035 xref: ICD10CM:E70.330 xref: MESH:D002609 xref: NCI:C2941 xref: ORDO:167 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3262 ! phagocyte bactericidal dysfunction is_a: DOID:9006283 ! Syndromic Oculocutaneous Albinism is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:2938 name: Epstein-Barr virus infectious disease alt_id: DOID:9000509 def: "A viral infectious disease that has_material_basis_in Human gammaherpesvirus 4. (DO)" [https://en.wikipedia.org/wiki/Epstein%E2%80%93Barr_virus_infection "DO", https://www.cdc.gov/epstein-barr/about-ebv.html "DO", https://www.ncbi.nlm.nih.gov/books/NBK559285/ "DO"] synonym: "EBV Infection" EXACT [] synonym: "EBV Infections" EXACT [] synonym: "EBVS1" RELATED [] synonym: "Epstein-Barr virus infection" EXACT [] synonym: "Epstein-Barr Virus Infections" EXACT [] synonym: "EPSTEIN-BARR VIRUS INSERTION SITE 1" RELATED [] synonym: "Human Herpes Virus 4 Infections" EXACT [] synonym: "Human Herpesvirus 4 Infections" EXACT [] xref: EFO:0000769 xref: MESH:D020031 xref: MIM:132850 xref: MONDO:0005111 xref: NCI:C38759 is_a: DOID:9002834 ! Herpesviridae Infections is_a: DOID:9004886 ! Tumor Virus Infections created_by: mtutaj creation_date: 2023-09-29T09:50:31Z [Term] id: DOID:294 name: lacrimal gland cancer synonym: "malignant neoplasm of lacrimal gland" EXACT [] synonym: "malignant tumour of lacrimal gland" EXACT [] synonym: "neoplasm of lacrimal gland" EXACT [] synonym: "tumor of the lacrimal gland" EXACT [] xref: ICD9CM:190.2 xref: NCI:C3563 xref: NCI:C4360 is_a: DOID:292 ! lacrimal system cancer created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:2942 name: bronchiolitis def: "A lung disease that is an inflammation of the bronchioles, the smallest air passages of the lungs. It is caused by viruses and bacteria. The disease has_symptom cough, has_symptom wheezing, has_symptom shortness of breath, has_symptom fever, has_symptom nasal flaring in infants and has_symptom bluish skin due to lack of oxygen. (DO)" [http://en.wikipedia.org/wiki/Bronchiolitis "DO"] synonym: "bronchiolitides" EXACT [] xref: MESH:D001988 xref: MONDO:0002465 xref: NCI:C39658 is_a: DOID:6132 ! bronchitis [Term] id: DOID:2945 name: severe acute respiratory syndrome def: "A Coronavirus infectious disease that results_in infection located_in respiratory tract, has_material_basis_in SARS coronavirus (SARS-CoV), which is transmitted_by droplet spread of respiratory secretions, transmitted_by ingestion of contaminated food, or transmitted_by fomites. The infection has_symptom fever, has_symptom headache, has_symptom body aches, has_symptom dry cough, and has_symptom hypoxia. (DO)" [http://en.wikipedia.org/wiki/Severe_acute_respiratory_syndrome "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=SARS "DO"] synonym: "SARS" EXACT [] synonym: "SARS (Severe Acute Respiratory Syndrome)" EXACT [] synonym: "SARS-CoV infection" EXACT [] xref: EFO:0000694 xref: GARD:9237 xref: ICD10CM:J12.81 xref: ICD9CM:079.82 xref: MESH:D045169 xref: NCI:C85064 is_a: DOID:0080599 ! Coronavirus infectious disease is_a: DOID:225 ! syndrome is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:295 name: eye carcinoma def: "An ocular cancer that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells and arises_from the tissues that cover structures located_in the eye. (DO)" [http://www.cancer.gov/dictionary/?CdrID=444991 "DO"] synonym: "carcinoma of eye" EXACT [] synonym: "Ocular carcinoma" EXACT [] synonym: "Ocular Sebaceous Carcinoma" NARROW [] xref: EFO:1000405 xref: NCI:C6079 is_a: DOID:2174 ! ocular cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:2951 name: motion sickness alt_id: MIM:158280 def: "Disorder caused by motion, as sea sickness, train sickness, car sickness, air sickness, or SPACE MOTION SICKNESS. It may include nausea, vomiting and dizziness." [MESH:D009041] synonym: "Airsickness" EXACT [] synonym: "air sickness" EXACT [] synonym: "Car Sickness" EXACT [] synonym: "Carsickness" EXACT [] synonym: "Sea Sickness" EXACT [] synonym: "seasickness" EXACT [] synonym: "travel sickness" EXACT [] xref: EFO:0006928 xref: ICD10CM:T75.3 xref: ICD9CM:994.6 xref: MESH:D009041 xref: NCI:C34824 is_a: DOID:2952 ! inner ear disease is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:2952 name: inner ear disease def: "An auditory system disease that is located in the part of the ear that contains organs of the senses of hearing and equilibrium. (DO)" [https://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders "DO"] synonym: "inner ear diseases" EXACT [] synonym: "Labyrinth Disease" EXACT [] synonym: "labyrinth diseases" EXACT [] synonym: "labyrinthine disease" EXACT [] xref: EFO:0009672 xref: ICD10CM:H83.9 xref: MESH:D007759 xref: NCI:C128369 xref: NCI:C27166 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:2957 name: pulmonary tuberculosis def: "A tuberculosis that is a contagious disease located_in lungs. The infection has_symptom fever, has_symptom cough, has_symptom difficulty in breathing, has_symptom inflammatory infiltrations, has_symptom formation of tubercles, has_symptom caseation, has_symptom pleural effusion, and has_symptom fibrosis. (DO)" [http://www.cdc.gov/tb/publications/factsheets/general/tb.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tuberculosis "DO"] synonym: "Pulmonary Consumption" EXACT [] synonym: "pulmonary consumptions" EXACT [] synonym: "Pulmonary Phthises" EXACT [] synonym: "Pulmonary Phthisis" EXACT [] synonym: "pulmonary tuberculoses" EXACT [] xref: EFO:1000049 xref: ICD10CM:A15 xref: ICD9CM:011 xref: MESH:D014397 xref: NCI:C26899 is_a: DOID:399 ! tuberculosis is_a: DOID:850 ! lung disease is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:2959 name: hyperimmunoglobulin syndrome def: "A B cell deficiency that is characterized by relative predominance of certain immunoglobulin subtypes and deficiencies of others. (DO)" [https://ncithesaurus-stage.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27579 "DO"] xref: NCI:C27579 is_a: DOID:11702 ! dysgammaglobulinemia is_a: DOID:2115 ! B cell deficiency [Term] id: DOID:296 name: mixed lacrimal gland cancer synonym: "carcinoma ex pleomorphic adenoma of lacrimal gland" EXACT [] synonym: "carcinoma Ex Pleomorphic adenoma of the lacrimal gland" EXACT [] synonym: "malignant mixed neoplasm of lacrimal gland" EXACT [] xref: NCI:C6804 xref: RDO:9002231 is_a: DOID:154 ! mixed cell type cancer is_a: DOID:294 ! lacrimal gland cancer created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:2960 name: photosensitive trichothiodystrophy def: "A trichothiodystrophy characterized by skin that is extremely sensitive to ultraviolet (UV) rays from sunlight. (DO)" [https://ghr.nlm.nih.gov/condition/trichothiodystrophy "DO", https://pubmed.ncbi.nlm.nih.gov/18603627/ "DO"] synonym: "IBIDS syndrome" EXACT [] synonym: "photosensitive trichothiodystrophies" EXACT [] synonym: "sulfur-deficient brittle hair syndrome" EXACT [] synonym: "Tay syndrome" EXACT [] synonym: "trichothiodystrophy with congenital ichthyosis" EXACT [] synonym: "trichothiodystrophy with sun sensitivity" EXACT [] synonym: "TTD-P" EXACT [] xref: MESH:C564733 xref: NCI:C4924 is_a: DOID:0111866 ! trichothiodystrophy is_a: DOID:3159 ! photosensitivity disease created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:2962 name: Cockayne syndrome alt_id: DOID:9004588 alt_id: DOID:9006765 def: "A syndrome that is characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. (DO)" [http://en.wikipedia.org/wiki/Cockayne_syndrome "DO", https://medlineplus.gov/genetics/condition/cockayne-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK1342/ "DO"] synonym: "Cockayne's syndrome" EXACT [] synonym: "Cockayne syndrome type 3" NARROW [] synonym: "Cockayne Syndrome Type C" NARROW [] synonym: "Cockayne syndrome type III" NARROW [] synonym: "Dwarfism-Retinal Atrophy-Deafness Syndrome" EXACT [] synonym: "Group C Cockayne Syndrome" NARROW [] synonym: "Neill-Dingwall syndrome" EXACT [] synonym: "Progeria Like Syndrome" EXACT [] synonym: "Progeria-Like Syndromes" EXACT [] synonym: "progeroid nanism" EXACT [] synonym: "XERODERMA PIGMENTOSUM AND COCKAYNE SYNDROME COMPLEX" NARROW [] synonym: "Xeroderma Pigmentosum B / Cockayne Syndrome" NARROW [] synonym: "Xeroderma Pigmentosum G / Cockayne Syndrome" NARROW [] synonym: "XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME" NARROW [] synonym: "xeroderma pigmentosum, type G / Cockayne syndrome" NARROW [] synonym: "XP7 XERODERMA PIGMENTOSUM, TYPE G/COCKAYNE SYNDROME" NARROW [] synonym: "XPG/CS" NARROW [] synonym: "XPG-CS" NARROW [] xref: EFO:0000359 xref: GARD:6122 xref: ICD10CM:Q87.1 xref: MESH:C566879 xref: MESH:C567061 xref: MESH:D003057 xref: MONDO:0008998 xref: MONDO:0016006 xref: NCI:C9460 xref: ORDO:191 xref: ORDO:90321 xref: ORDO:90322 xref: ORDO:90324 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:2964 name: periarthritis def: "Inflammation of the tissues around a joint. (Dorland, 27th ed)" [MESH:D010489] synonym: "Periarthritides" EXACT [] xref: EFO:1001097 xref: ICD10CM:M77.9 xref: MESH:D010489 xref: RDO:0006320 is_a: DOID:2965 ! bursitis is_a: DOID:848 ! arthritis [Term] id: DOID:2965 name: bursitis def: "Inflammation or irritation of a SYNOVIAL BURSA, the fibrous sac that acts as a cushion between moving structures of bones, muscles, tendons or skin." [MESH:D002062] synonym: "adhesive capsulitides" EXACT [] synonym: "Adhesive Capsulitis" EXACT [] synonym: "Bursitides" EXACT [] synonym: "Capsulitides" EXACT [] synonym: "capsulitis" EXACT [] xref: ICD10CM:M71.9 xref: MESH:D002062 xref: NCI:C94407 is_a: DOID:381 ! arthropathy [Term] id: DOID:297 name: pleomorphic adenoma carcinoma def: "This is a carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCI:C40410] synonym: "carcinoma ex pleomorphic adenoma" EXACT [SNOMEDCT_2005_07_31:17264009] synonym: "carcinoma in pleomorphic adenoma" EXACT [SNOMEDCT_2005_07_31:189811003] synonym: "EFO:1000516" EXACT [] synonym: "Parotid Gland Carcinoma ex Pleomorphic Adenoma" NARROW [] synonym: "Salivary Gland Carcinoma ex Pleomorphic Adenoma" EXACT [] synonym: "saliva-secreting gland carcinoma ex pleomorphic adenoma" EXACT [] xref: EFO:1000461 xref: EFO:1000516 xref: NCI:C40410 xref: NCI:C4397 is_a: DOID:8850 ! salivary gland cancer [Term] id: DOID:2972 name: renal artery obstruction def: "Narrowing or occlusion of the RENAL ARTERY or arteries. It is due usually to ATHEROSCLEROSIS; FIBROMUSCULAR DYSPLASIA; THROMBOSIS; EMBOLISM, or external pressure. The reduced renal perfusion can lead to renovascular hypertension (HYPERTENSION, RENOVASCULAR)." [MESH:D012078] synonym: "Renal Artery Obstructions" EXACT [] synonym: "Renal Artery Stenoses" EXACT [] synonym: "Renal Artery Stenosis" EXACT [] xref: EFO:1001150 xref: ICD10CM:N28.0 xref: MESH:D012078 is_a: DOID:2388 ! renal artery disease is_a: DOID:557 ! kidney disease is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:2973 name: kidney cortex necrosis def: "A kidney cortex disease that is characterized by death of the tissue in the outer part of the kidney that results from blockage of the small arteries that supply blood to the cortex and that causes acute kidney injury. (DO)" [https://www.merckmanuals.com/home/kidney-and-urinary-tract-disorders/blood-vessel-disorders-of-the-kidneys/cortical-necrosis-of-the-kidneys "DO"] synonym: "glomerular necrosis" EXACT [] synonym: "renal cortical necrosis" EXACT [] synonym: "renal tubule necrosis" EXACT [] xref: EFO:1001003 xref: ICD10CM:N17.1 xref: MESH:D007673 is_a: DOID:0080616 ! kidney cortex disease [Term] id: DOID:2975 name: cystic kidney disease def: "A heterogeneous group of hereditary and acquired disorders in which the KIDNEY contains one or more CYSTS unilaterally or bilaterally (KIDNEY, CYSTIC)." [MESH:D052177] synonym: "Complex Cyst of Kidney" NARROW [] synonym: "cystic kidney" EXACT [] synonym: "cystic kidney diseases" EXACT [] synonym: "Cystic Kidneys" EXACT [] synonym: "Cystic Renal Disease" EXACT [] synonym: "Cystic Renal Diseases" EXACT [] synonym: "KIDNEY CYST" NARROW [MTH:646] synonym: "renal cyst" NARROW [] synonym: "Simple Cyst of Kidney" NARROW [] xref: EFO:0008615 xref: EFO:0008616 xref: EFO:0008619 xref: EFO:1000313 xref: MESH:D052177 is_a: DOID:557 ! kidney disease [Term] id: DOID:2977 name: primary hyperoxaluria def: "A carbohydrate metabolic disorder characterized by impaired glyoxylate metabolism resulting in accumulation of oxalate throughout the body typically manifesting as kidney and bladder stones. (DO)" [https://ghr.nlm.nih.gov/condition/primary-hyperoxaluria "DO", https://www.ncbi.nlm.nih.gov/pubmed/27815184 "DO"] synonym: "primary hyperoxalurias" EXACT [] synonym: "primary oxaloses" EXACT [] synonym: "primary oxalosis" EXACT [] synonym: "primary oxaluria" EXACT [] synonym: "primary oxalurias" EXACT [] xref: ICD10CM:E72.53 xref: ICD10CM:R82.992 xref: MESH:D006960 xref: MIM:PS259900 xref: NCI:C123158 xref: ORDO:416 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9004912 ! Hyperoxaluria [Term] id: DOID:2978 name: carbohydrate metabolic disorder def: "An inherited metabolic disorder that affect the catabolism and anabolism of carbohydrates. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_carbohydrate_metabolism "DO"] synonym: "abnormality of mucopolysaccharide metabolism" NARROW [] synonym: "carbohydrate metabolism, inborn error" EXACT [] synonym: "carbohydrate metabolism, inborn errors" EXACT [] synonym: "disorder of carbohydrate transport and metabolism" EXACT [] synonym: "inborn carbohydrate metabolism disorder" EXACT [] synonym: "inborn errors of carbohydrate metabolism" EXACT [] xref: HP:0011020 xref: MESH:D002239 xref: MONDO:0019214 xref: NCI:C97089 xref: ORDO:79161 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:298 name: lacrimal gland adenocarcinoma def: "A lacrimal gland carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of lacrimal gland" EXACT [] xref: NCI:C4541 is_a: DOID:293 ! lacrimal gland carcinoma is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:2981 name: kidney papillary necrosis def: "A complication of kidney diseases characterized by cell death involving KIDNEY PAPILLA in the KIDNEY MEDULLA. Damages to this area may hinder the kidney to concentrate urine resulting in POLYURIA. Sloughed off necrotic tissue may block KIDNEY PELVIS or URETER. Necrosis of multiple renal papillae can lead to KIDNEY FAILURE." [MESH:D007681] synonym: "necrotizing renal papillitides" EXACT [] synonym: "necrotizing renal papillitis" EXACT [] synonym: "papillary necrosis" EXACT [] synonym: "renal medullary necrosis" EXACT [] xref: EFO:1001004 xref: MESH:D007681 is_a: DOID:557 ! kidney disease [Term] id: DOID:2982 name: perinephritis def: "Inflammation of the connective and adipose tissues surrounding the KIDNEY." [MESH:D010501] synonym: "perinephritides" EXACT [] synonym: "perinephrium inflammation" EXACT [] synonym: "perinephrium inflammations" EXACT [] xref: EFO:1001099 xref: MESH:D010501 is_a: DOID:557 ! kidney disease [Term] id: DOID:2983 name: anuria def: "Absence of urine formation. It is usually associated with complete bilateral ureteral (URETER) obstruction, complete lower urinary tract obstruction, or unilateral ureteral obstruction when a solitary kidney is present." [MESH:D001002] synonym: "anurias" EXACT [] synonym: "suppression of urinary secretion" EXACT [] xref: EFO:0009530 xref: MESH:D001002 xref: NCI:C114699 is_a: DOID:557 ! kidney disease is_a: DOID:9003919 ! Urination Disorders [Term] id: DOID:2986 name: IgA glomerulonephritis alt_id: MIM:161950 alt_id: MIM:613944 alt_id: MIM:616818 def: "A glomerulonephritis characterized by build up of IgA antibody in the glomerulus. (DO)" [http://en.wikipedia.org/wiki/IgA_nephropathy "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000466.htm "DO"] synonym: "Berger's disease" EXACT [] synonym: "Berger's IgA or IgG nephropathy" EXACT [] synonym: "Berger disease" EXACT [] synonym: "Bergers Disease" EXACT [] synonym: "focal glomerulonephritis" EXACT [] synonym: "Glomerulonephritides, IGA" EXACT [] synonym: "IGAN" EXACT [] synonym: "IGAN1" EXACT [] synonym: "IGAN2" EXACT [] synonym: "IGAN3" EXACT [] synonym: "IGA Nephropathy" EXACT [] synonym: "Iga Nephropathy 1" EXACT [] synonym: "Iga nephropathy, susceptibility to" RELATED [] synonym: "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 1" EXACT [] synonym: "IgA NEPHROPATHY, SUSCEPTIBILITY TO, 2" EXACT [] synonym: "IGA Type Nephritis" EXACT [] synonym: "immunoglobulin A nephropathy" EXACT [] synonym: "primary IgA nephropathy" EXACT [] synonym: "segmental glomerulonephritis" EXACT [] synonym: "susceptibility to IgA nephropathy-3" EXACT [] synonym: "susceptibility to progression to renal failure in IgA nephropathy" RELATED [] xref: EFO:0004194 xref: GARD:863 xref: MESH:D005922 xref: MIM:PS161950 xref: NCI:C34643 xref: NCI:C35280 is_a: DOID:2921 ! glomerulonephritis is_a: DOID:417 ! autoimmune disease [Term] id: DOID:2987 name: familial Mediterranean fever alt_id: MIM:249100 alt_id: OMIA:001561 def: "An autoimmune disease characterized by recurrent episodes of fever and acute inflammation of the membranes lining the abdomen, joints and lungs; that has_material_basis_in mutations in the MEFV gene, which encodes the protein pyrin. (DO)" [http://en.wikipedia.org/wiki/Familial_Mediterranean_fever "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/127/viewAbstract "DO"] synonym: "benign paroxysmal peritonitides" EXACT [] synonym: "benign paroxysmal peritonitis" EXACT [] synonym: "Familial Mediterranean fever, AR" NARROW [] synonym: "Familial Mediterranean Fever, Autosomal Recessive" NARROW [] synonym: "familial paroxysmal polyserositides" EXACT [] synonym: "Familial Paroxysmal Polyserositis" EXACT [] synonym: "FAMILIAL PERIODIC FEVER" EXACT [] synonym: "FMF" EXACT [] synonym: "MEFV-RELATED CONDITION" BROAD [] synonym: "Periodic Disease" EXACT [] synonym: "periodic diseases" EXACT [] synonym: "periodic fever syndrome" EXACT [] synonym: "periodic peritonitides" EXACT [] synonym: "periodic peritonitis" EXACT [] synonym: "recurrent polyserositides" EXACT [] synonym: "recurrent polyserositis" EXACT [] synonym: "Wolff's periodic disease" EXACT [] synonym: "Wolff periodic disease" EXACT [] synonym: "Wolffs periodic disease" EXACT [] xref: GARD:6421 xref: ICD10CM:M04.1 xref: ICD9CM:277.31 xref: MESH:D010505 xref: NCI:C84707 xref: ORDO:342 is_a: DOID:0050739 ! autosomal genetic disease is_a: DOID:417 ! autoimmune disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:2988 name: antiphospholipid syndrome def: "An autoimmune disease that is characterized by recurrent venous or arterial thrombosis and/or fetal losses associated with characteristic elevated levels of antibodies directed against membrane anionic phospholipids (anticardiolipin). (DO)" [http://en.wikipedia.org/wiki/Antiphospholipid_syndrome "DO", https://www.genome.gov/Genetic-Disorders/Antiphospholipid-Syndrome "DO"] synonym: "Anti Phospholipid Antibody Syndrome" EXACT [] synonym: "Antiphospholipid Antibody Syndrome" EXACT [] synonym: "antiphospholipid antibody syndromes" EXACT [] synonym: "anti phospholipid syndrome" EXACT [] synonym: "APS" EXACT [] synonym: "Hughes syndrome" EXACT [] xref: EFO:0002689 xref: GARD:5824 xref: ICD10CM:D68.61 xref: MESH:D016736 xref: NCI:C61283 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:225 ! syndrome [Term] id: DOID:299 name: adenocarcinoma def: "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from epithelial cells, which originate in glandular tissue. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinomas" EXACT [] synonym: "basal cell adenocarcinoma" EXACT [] synonym: "basal cell adenocarcinomas" EXACT [] synonym: "cribriform carcinoma" EXACT [] synonym: "cribriform carcinomas" EXACT [] synonym: "EFO:0000228" EXACT [] synonym: "oxyphilic adenocarcinoma" EXACT [] synonym: "oxyphilic adenocarcinomas" EXACT [] xref: EFO:0000228 xref: ICDO:8140/3 xref: MESH:D000230 xref: NCI:C2852 is_a: DOID:305 ! carcinoma [Term] id: DOID:2992 name: prostate neuroendocrine neoplasm synonym: "neuroendocrine tumor of the prostate" EXACT [] xref: NCI:C5545 xref: RDO:9001824 is_a: DOID:10283 ! prostate cancer is_a: DOID:169 ! neuroendocrine tumor created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:2994 name: germ cell cancer def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor "DO"] synonym: "EFO:0000514" EXACT [] synonym: "germ cell cancers" EXACT [] synonym: "malignant tumor of the germ cell" EXACT [] xref: EFO:0000514 xref: EFO:1000352 xref: NCI:C3708 is_a: DOID:0050687 ! cell type cancer is_a: DOID:9005959 ! Gonadal Tissue Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:2996 name: mixed germ cell-sex cord neoplasm synonym: "mixed germ cell-sex cord-stromal tumor" EXACT [] synonym: "mixed germ cell-sex cord tumor" EXACT [] xref: NCI:C5241 is_a: DOID:154 ! mixed cell type cancer [Term] id: DOID:2997 name: Sertoli-Leydig cell tumor alt_id: DOID:9000202 alt_id: MESH:C537588 def: "A sex cord-gonadal stromal tumor characterized by variable proportions of Sertoli cells, Leydig cells, primitive gonadal stroma and/or heterologous elements located_in the ovaries and testicles. (DO)" [https://en.wikipedia.org/wiki/Sertoli–Leydig_cell_tumour "DO"] synonym: "Androblastoma" EXACT [] synonym: "Androblastoma of Ovary" NARROW [] synonym: "Androblastomas" EXACT [] synonym: "Arrhenoblastoma" EXACT [] synonym: "Arrhenoblastomas" EXACT [] synonym: "Ovarian Sertoli-Leydig Cell Tumor" NARROW [] synonym: "Sertoli-leydig cell tumor of the ovary" NARROW [] synonym: "Sertoli-Leydig cell tumors" EXACT [] xref: EFO:1000429 xref: GARD:9967 xref: MESH:D018310 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:2998 name: testicular cancer def: "A male reproductive system cancer that is located_in the testicles. (DO)" [http://www.cancer.gov/dictionary?CdrID=445090 "DO"] synonym: "cancer of testis" EXACT [] synonym: "cancer of the testes" EXACT [] synonym: "childhood neoplasm of the testis" EXACT [] synonym: "malignant tumor of testis" EXACT [] synonym: "pediatric testicular neoplasm" EXACT [] synonym: "testicular cancers" EXACT [] synonym: "testicular tumor" EXACT [] synonym: "testis cancer" EXACT [] synonym: "testis cancers" EXACT [] xref: EFO:0004281 xref: EFO:0005088 xref: GARD:7746 xref: ICD10CM:C62 xref: ICD9CM:186 xref: NCI:C3404 xref: NCI:C5053 xref: NCI:C7251 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:3856 ! male reproductive organ cancer is_a: DOID:9004207 ! Testicular Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:2999 name: granulosa cell tumor def: "A sex cord-gonadal stromal tumor that has_material_basis_in granulosa cells and arises from the sex cord stroma. (DO)" [https://en.wikipedia.org/wiki/Granulosa_cell_tumour "DO"] synonym: "Cancer of Granulosa Cells" EXACT [] synonym: "EFO:1000032" EXACT [] synonym: "Granulosa Cell Cancer" EXACT [] synonym: "Granulosa Cell Cancers" EXACT [] synonym: "granulosa cell neoplasm" EXACT [] synonym: "Granulosa Cells Cancer" EXACT [] synonym: "Granulosa Cells Cancers" EXACT [] synonym: "granulosa cell tumor, adult type" EXACT [] synonym: "Granulosa Cell Tumors" EXACT [] synonym: "Granulosa cell tumor, somatic" EXACT [] synonym: "granulosa cell tumour, sarcomatoid" EXACT [] synonym: "malignant granulosa cell neoplasm" EXACT [] xref: EFO:1000032 xref: MESH:D006106 xref: NCI:C24000 xref: NCI:C3070 xref: NCI:C4205 is_a: DOID:192 ! sex cord-gonadal stromal tumor is_a: DOID:2394 ! ovarian cancer [Term] id: DOID:3001 name: female reproductive endometrioid cancer def: "A female reproductive organ cancer that is characterized by a resemblance to endometrium. (DO)" [https://en.wikipedia.org/wiki/Endometrioid_tumor "DO"] synonym: "endometrioid neoplasm" EXACT [] synonym: "endometrioid tumor" EXACT [SNOMEDCT_2005_07_31:253013001] synonym: "endometrioid tumor (morphologic abnormality)" EXACT [] synonym: "female reproductive endometrioid neoplasm" RELATED [] xref: EFO:0009118 xref: NCI:C7113 xref: RDO:9002285 is_a: DOID:120 ! female reproductive organ cancer created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:3002 name: ovary neuroendocrine neoplasm def: "An ovarian cancer that has_material_basis_in nuroendocrine cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26976990 "DO"] synonym: "neuroendocrine tumor of ovary" EXACT [] xref: NCI:C5237 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:2394 ! ovarian cancer is_a: DOID:9002762 ! Ovarian Neoplasms created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:3003 name: nipple benign neoplasm def: "A breast benign neoplasm that is located_in the nipple. (DO)" [https://en.wikipedia.org/wiki/Nipple_adenoma "DO"] synonym: "tumor of nipple" EXACT [] xref: NCI:C5212 is_a: DOID:0060082 ! breast benign neoplasm [Term] id: DOID:3004 name: breast myoepithelial neoplasm def: "A breast cancer that arises from myoepithelial cells, which are a normal constituent of the salivary acini and ducts and are found between the epithelial cells and the basement membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4439666/ "DO"] xref: NCI:C40389 xref: RDO:9001790 is_a: DOID:1612 ! breast cancer is_a: DOID:9008939 ! Breast Neoplasms created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:3007 name: breast ductal carcinoma def: "A breast carcinoma that derives_from the lining of milk ducts. (DO)" [http://cancergenome.nih.gov/cancersselected/breastductal "DO", http://www.cancer.gov/dictionary?CdrID=45085 "DO"] synonym: "ductal breast carcinoma" EXACT [] synonym: "duct carcinoma" EXACT [] synonym: "EFO:0006318" EXACT [] xref: EFO:0000430 xref: EFO:0000431 xref: EFO:0006318 is_a: DOID:3459 ! breast carcinoma is_a: DOID:9008138 ! Ductal Carcinoma [Term] id: DOID:3008 name: invasive ductal carcinoma def: "A breast ductal carcinoma that is characterized by infiltration into the fibrous or fatty tissue of the breast outside of the duct where it originated. (DO)" [https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25343550 "DO"] synonym: "ductal adenocarcinoma" EXACT [] synonym: "EFO:0000186" EXACT [] synonym: "infiltrating ductal carcinoma of breast" EXACT [] synonym: "infiltrating duct carcinoma" EXACT [] synonym: "infiltrating duct carcinoma of breast" EXACT [] synonym: "infiltrating duct carcinomas" EXACT [] synonym: "invasive breast ductal and lobular carcinoma" NARROW [] synonym: "invasive breast ductal carcinoma" EXACT [] synonym: "invasive ductal breast cancer" EXACT [] synonym: "invasive ductal carcinoma, not otherwise specified" EXACT [] synonym: "invasive ductal carcinoma, NST" EXACT [] synonym: "mammary ductal carcinoma" EXACT [] synonym: "mammary ductal carcinomas" EXACT [] xref: EFO:0000184 xref: EFO:0000186 xref: EFO:0000552 xref: MESH:D018270 xref: NCI:C4017 xref: NCI:C4194 is_a: DOID:3007 ! breast ductal carcinoma [Term] id: DOID:3009 name: breast neuroendocrine neoplasm def: "A breast benign neoplasm that forms from cells that release hormones into the blood in response to a signal from the nervous system. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/neuroendocrine-tumor "DO"] synonym: "neuroendocrine tumor of the breast" EXACT [] xref: NCI:C5169 xref: RDO:9001791 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:169 ! neuroendocrine tumor created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:3010 name: lobular neoplasia def: "A breast carcinoma in situ that is characterized by abnormal cells are found in the lobules (glands that make milk) of the breast. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/lobular-neoplasia "DO"] synonym: "Atypical Lobular Breast Hyperplasia" NARROW [] synonym: "LCIS, lobular carcinoma in situ" EXACT [] synonym: "Lobular Breast Carcinoma In Situ" EXACT [] synonym: "lobular carcinoma in situ" EXACT [] synonym: "lobular intraepithelial neoplasia" EXACT [] xref: EFO:1000100 xref: EFO:1000326 xref: NCI:C27939 is_a: DOID:8791 ! breast carcinoma in situ [Term] id: DOID:3011 name: breast granular cell tumor def: "A breast cancer that is believed to arises_from Schwann cells. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/granular-cell-tumor "DO"] xref: NCI:C40400 xref: RDO:9001792 is_a: DOID:1612 ! breast cancer is_a: DOID:2411 ! granular cell tumor created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:3012 name: Li-Fraumeni syndrome def: "A syndrome characterized by autosomal dominant inheritance of increased risk of developing several types of cancer, including breast cancer, osteosarcomata and soft tissue sarcomata. (DO)" [http://en.wikipedia.org/wiki/Li%E2%80%93Fraumeni_syndrome "DO", http://ghr.nlm.nih.gov/condition/li-fraumeni-syndrome "DO", https://www.lfsassociation.org/what-is-lfs/ "DO"] synonym: "LFS" EXACT [] synonym: "Li-Fraumeni familiar cancer susceptibility syndrome" EXACT [] synonym: "sarcoma, breast, leukaemia and adrenal gland syndrome" EXACT [] synonym: "sarcoma, breast, leukemia, and adrenal gland (SBLA) syndrome" EXACT [] synonym: "sarcoma family syndrome of Li and Fraumeni" EXACT [] synonym: "SBLA syndrome" EXACT [] xref: EFO:0004797 xref: GARD:6902 xref: MESH:D016864 xref: MIM:PS151623 xref: MONDO:0018875 xref: NCI:C3476 xref: ORDO:524 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:3013 name: intraductal breast benign neoplasm def: "A breast benign neoplasm that is located_in the breast ducts. (DO)" [https://www.hopkinsmedicine.org/breast_center/breast_cancers_other_conditions/invasive_ductal_carcinoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23025963 "DO"] xref: NCI:C36083 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms [Term] id: DOID:3016 name: breast malignant phyllodes tumor def: "A breast cancer that is characterized by a prominent infiltrative border, unequivocal sarcomatous areas, and stromal overgrowth and arises_from the stroma, lined by an epithelial and myoepithelial bilayer, forming a leaflike structure. They tend to grow rapidly and present in middle-aged women (40s-50s). (DO)" [https://www.sciencedirect.com/science/article/pii/S2214330016300256 "DO"] synonym: "breast malignant phyllodes tumour" EXACT [] synonym: "EFO:0008545" EXACT [] synonym: "malignant cystosarcoma phyllodes" EXACT [SNOMEDCT_2005_07_31:189826001] synonym: "malignant mammary phyllodes tumor" EXACT [NCI2004_11_17:C4504] synonym: "malignant Mammary Phyllodes tumour" EXACT [] synonym: "malignant phyllodes neoplasm" EXACT [NCI2004_11_17:C4275] synonym: "malignant phyllodes tumor" EXACT [SNOMEDCT_2005_07_31:87913009] synonym: "malignant phyllodes tumor of breast" EXACT [SNOMEDCT_2005_07_31:254844000] synonym: "malignant phyllodes tumour" EXACT [] synonym: "malignant phyllodes tumour of breast" EXACT [] synonym: "Phyllodes breast neoplasm" EXACT [NCI2004_11_17:C7575] synonym: "phyllodes breast tumor" EXACT [] synonym: "phyllodes breast tumour" EXACT [] xref: EFO:0008545 xref: NCI:C4275 xref: NCI:C4504 xref: NCI:C7575 xref: RDO:9003817 is_a: DOID:1612 ! breast cancer is_a: DOID:9004240 ! Phyllodes Tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3017 name: breast sarcoma def: "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from mesenchymal cells. (DO)" [http://en.wikipedia.org/wiki/Sarcoma "DO"] synonym: "sarcoma of breast" EXACT [] xref: NCI:C4670 is_a: DOID:1115 ! sarcoma is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:302 name: substance abuse def: "A substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. (DO)" [http://allpsych.com/disorders/substance/substanceabuse.html "DO", http://en.wikipedia.org/wiki/Substance_abuse "DO"] synonym: "drug misuse" BROAD [] synonym: "substance abuses" EXACT [] xref: EFO:0011049 xref: MONDO:0002491 xref: NCI:C16522 is_a: DOID:303 ! substance-related disorder created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:3021 name: acute kidney failure def: "Abrupt reduction in kidney function. Acute kidney injury encompasses the entire spectrum of the syndrome including acute kidney failure; ACUTE KIDNEY TUBULAR NECROSIS; and other less severe conditions." [MESH:D058186] synonym: "Acute Kidney Failures" EXACT [] synonym: "Acute Kidney Injuries" EXACT [] synonym: "Acute Kidney Injury" EXACT [] synonym: "Acute Kidney Insufficiencies" EXACT [] synonym: "Acute Kidney Insufficiency" EXACT [] synonym: "Acute Renal Failure" EXACT [] synonym: "Acute Renal Failures" EXACT [] synonym: "Acute Renal Injuries" EXACT [] synonym: "Acute Renal Injury" EXACT [] synonym: "Acute Renal Insufficiencies" EXACT [] synonym: "Acute Renal Insufficiency" EXACT [] synonym: "post-operative acute kidney injury" NARROW [] synonym: "postoperative acute kidney injury" NARROW [] xref: EFO:0009955 xref: MESH:D058186 xref: RDO:0001702 is_a: DOID:1074 ! kidney failure [Term] id: DOID:3024 name: prostatic acinar adenocarcinoma def: "This is an invasive adenocarcinoma of the prostate gland composed of secretory cells. It is the most common histologic type of prostate adenocarcinoma. Several morphologic variants exist, including atrophic, pseudohyperplastic, foamy gland, and oncocytic variants." [NCI:C5596] synonym: "Acinar Prostate Adenocarcinoma, Foamy Gland Variant" NARROW [] synonym: "Prostate Acinar Adenocarcinoma, Lymphoepithelioma-Like Variant" NARROW [] xref: EFO:1000064 xref: NCI:C5596 is_a: DOID:2526 ! prostate adenocarcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:3025 name: acinar cell carcinoma def: "A carcinoma that has_material_basis_in abnormally proliferating cells, derives_from spindle cells and/or derives_from giant cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15215543/ "DO"] synonym: "acinar carcinoma" EXACT [] synonym: "acinar carcinomas" EXACT [] synonym: "Acinar Cell Adenocarcinoma" EXACT [] synonym: "Acinar Cell Adenocarcinomas" EXACT [] synonym: "Acinar Cell Carcinomas" EXACT [] synonym: "Acinic Cell Adenocarcinoma" EXACT [] synonym: "Acinic Cell Adenocarcinomas" EXACT [] synonym: "Acinic Cell Carcinoma" EXACT [] synonym: "Acinic Cell Carcinomas" EXACT [] synonym: "Acinic Cell Tumor" EXACT [] synonym: "acinic cell tumors" EXACT [] synonym: "EFO:0000216" EXACT [] synonym: "Parotid Gland Acinic Cell Carcinoma" NARROW [] synonym: "Salivary Gland Acinic Cell Carcinoma" NARROW [] synonym: "serous acinar adenoma" EXACT [] xref: EFO:0000216 xref: EFO:1000458 xref: EFO:1000513 xref: GARD:8568 xref: ICDO:8550/3 xref: MESH:D018267 xref: NCI:C3768 is_a: DOID:299 ! adenocarcinoma is_a: DOID:60004 ! malignant cystadenoma [Term] id: DOID:3029 name: colon mucinous adenocarcinoma synonym: "colonic mucinous adenocarcinoma" EXACT [] synonym: "EFO:0000364" EXACT [] xref: EFO:0000364 xref: NCI:C7966 xref: RDO:9004069 is_a: DOID:234 ! colon adenocarcinoma is_a: DOID:3030 ! mucinous adenocarcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:303 name: substance-related disorder alt_id: MIM:606581 def: "A disease of mental health involving the abuse or dependence on a substance that is ingested in order to produce a high, alter one's senses, or otherwise affect functioning. (DO)" [https://www.psychologytoday.com/us/conditions/substance-related-disorders "DO"] synonym: "Dopamine receptor d2, reduced brain density of" RELATED [] synonym: "organic mental disorders, substance induced" EXACT [] synonym: "polysubstance abuse, susceptibility to" EXACT [] synonym: "PSAB" EXACT [] synonym: "psychiatric toxicity" BROAD [] synonym: "substance addiction" EXACT [] synonym: "substance-related disorders" EXACT [] synonym: "substance use disorder" EXACT [] synonym: "substance use disorders" EXACT [] xref: EFO:0011059 xref: MESH:D019966 xref: MONDO:0002494 xref: NCI:C92203 is_a: DOID:150 ! disease of mental health is_a: DOID:9008261 ! Chemically-Induced Disorders [Term] id: DOID:3030 name: mucinous adenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)" [http://coloncancer.about.com/od/typesofcancer/a/Mucinous_Tumor.htm "DO", http://medical-dictionary.thefreedictionary.com/mucinous+carcinoma "DO"] synonym: "Colloid Carcinoma" EXACT [] synonym: "colloid carcinomas" EXACT [] synonym: "EFO:0000197" EXACT [] synonym: "Mucinous Adenocarcinomas" EXACT [] synonym: "Mucinous Carcinoma" EXACT [] synonym: "mucinous carcinomas" EXACT [] synonym: "mucin-producing adenocarcinoma" EXACT [] synonym: "mucin-secreting adenocarcinoma" EXACT [] synonym: "mucin-secreting carcinoma" EXACT [] synonym: "mucous carcinoma" EXACT [] synonym: "pseudomyxoma peritonei with unknown primary site" EXACT [] xref: EFO:0000197 xref: EFO:1000387 xref: ICDO:8480/3 xref: MESH:D002288 xref: NCI:C26712 xref: NCI:C27379 xref: NCI:C27825 is_a: DOID:299 ! adenocarcinoma is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms [Term] id: DOID:3033 name: colon signet ring adenocarcinoma synonym: "Colonic Signet Ring adenocarcinoma" EXACT [NCI2004_11_17:C7967] xref: RDO:9004262 is_a: DOID:234 ! colon adenocarcinoma is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:9006678 ! Somatic Colonic Adenocarcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3038 name: submucosal invasive colon adenocarcinoma xref: NCI:C38760 xref: RDO:9004263 is_a: DOID:234 ! colon adenocarcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3039 name: cecum adenocarcinoma def: "A cecum carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of cecum" RELATED [] synonym: "Cecal adenocarcinoma" EXACT [NCI2004_11_17:C5543] synonym: "EFO:1000020" EXACT [] xref: EFO:1000020 xref: EFO:1000153 xref: NCI:C5543 xref: RDO:9004284 is_a: DOID:0050913 ! large intestine adenocarcinoma is_a: DOID:1519 ! cecum carcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3042 name: allergic contact dermatitis def: "A contact dermatitis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign. (DO)" [http://en.wikipedia.org/wiki/Allergic_contact_dermatitis "DO"] synonym: "Allergic Contact Dermatitides" EXACT [] synonym: "Allergic Eczematous Dermatitides" EXACT [] synonym: "Allergic Eczematous Dermatitis" EXACT [] xref: EFO:1000668 xref: ICD10CM:L23 xref: ICD10CM:L23.9 xref: MESH:D017449 xref: NCI:C26998 is_a: DOID:2773 ! contact dermatitis is_a: DOID:9002605 ! Delayed Hypersensitivity [Term] id: DOID:3044 name: food allergy def: "A hypersensitivity reaction type I disease that is an abnormal response to a food, triggered by the body's immune system. (DO)" [http://www.niaid.nih.gov/topics/foodAllergy/understanding/Pages/whatIsIt.aspx "DO"] synonym: "food allergies" EXACT [] synonym: "food hypersensitivity" EXACT [] xref: EFO:1001890 xref: MESH:D005512 xref: NCI:C172304 is_a: DOID:0060502 ! gastrointestinal allergy is_a: DOID:9002850 ! Immediate Hypersensitivity [Term] id: DOID:3047 name: Wissler-Fanconi syndrome def: "A syndrome that is characterized by true sepsis, acute rheumatic fever, rheumatoid arthritis, and adult onset Still’s disease. (DO)" [http://en.wikipedia.org/wiki/Wissler%27s_syndrome "DO", https://www.ncbi.nlm.nih.gov/articles/PMC5098720/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/8150635 "DO"] synonym: "subsepsis allergica" EXACT [] synonym: "subsepsis hyperergica" EXACT [] synonym: "Wissler's subsepsis allergica" EXACT [] synonym: "Wissler's syndrome" EXACT [] synonym: "Wisslers syndrome" EXACT [] synonym: "Wissler syndrome" EXACT [] xref: EFO:0007547 xref: MESH:D014924 is_a: DOID:1205 ! allergic disease is_a: DOID:1586 ! rheumatic fever is_a: DOID:225 ! syndrome [Term] id: DOID:3049 name: Churg-Strauss syndrome def: "A vasculitits that is systemic vasculitis realized as blood vessel inflammation and has_symptom asthma along with hay fever, rash and gastrointestinal bleeding. (DO)" [http://www.hopkinsvasculitis.org/types-vasculitis/churgstrauss-syndrome-css/ "DO", http://www.mayoclinic.com/health/churg-strauss-syndrome/DS00855 "DO"] synonym: "allergic angiitides" EXACT [] synonym: "Allergic Angiitis" EXACT [] synonym: "Allergic Angiitis and Granulomatosis" EXACT [] synonym: "Allergic Granulomatoses" EXACT [] synonym: "Allergic Granulomatosis" EXACT [] synonym: "allergic granulomatosis angiitis" EXACT [] synonym: "Allergic Granulomatous and Angiitis" EXACT [] synonym: "Allergic Granulomatous Angiitides" EXACT [] synonym: "Allergic Granulomatous Angiitis" EXACT [] synonym: "Churg-Strauss Vasculitis" EXACT [] synonym: "Eosinophilic Granulomatous Vasculitides" EXACT [] synonym: "eosinophilic granulomatous vasculitis" EXACT [] xref: EFO:0007208 xref: ICD10CM:M30.1 xref: MESH:D015267 xref: NCI:C34481 is_a: DOID:9002019 ! Granuloma is_a: DOID:9003819 ! Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis [Term] id: DOID:305 name: carcinoma def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "anaplastic carcinoma" EXACT [] synonym: "anaplastic carcinomas" EXACT [] synonym: "Carcinomas" EXACT [] synonym: "Carcinomatoses" EXACT [] synonym: "Carcinomatosis" EXACT [] synonym: "EFO:0000313" EXACT [] synonym: "epithelial cancer" EXACT [] synonym: "Epithelioma" EXACT [] synonym: "Epitheliomas" EXACT [] synonym: "Malignant Epithelial Neoplasm" EXACT [] synonym: "Malignant Epithelial Neoplasms" EXACT [] synonym: "Malignant Epithelial Tumor" EXACT [] synonym: "Malignant Epithelial Tumors" EXACT [] synonym: "malignant epithelioma" EXACT [] synonym: "undifferentiated carcinoma" EXACT [] synonym: "undifferentiated carcinomas" EXACT [] xref: EFO:0000313 xref: EFO:0006772 xref: ICDO:8010/3 xref: MESH:D002277 xref: NCI:C2916 xref: NCI:C3709 is_a: DOID:0050687 ! cell type cancer is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:3052 name: Balkan nephropathy alt_id: MIM:124100 def: "An interstitial nephritis endemic to the regions along the Danube river, in the modern countries of Croatia, Bosnia and Herzegovina, Serbia, Romania and Bulgaria. (DO)" [http://en.wikipedia.org/wiki/Danubian_endemic_familial_nephropathy "DO"] synonym: "Balkan Endemic Nephropathy" EXACT [] synonym: "Danubian Endemic Familial Nephropathy" EXACT [] synonym: "DEFN" EXACT [] synonym: "nephropathia epidemica" EXACT [] xref: EFO:0007164 xref: ICD10CM:N15.0 xref: MESH:D001449 is_a: DOID:1063 ! interstitial nephritis [Term] id: DOID:3055 name: paratyphoid fever def: "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Salmonella enterica subsp enterica serovar Paratyphi A, B or C, which are transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom headache, has_symptom abdominal pain, has_symptom malaise, has_symptom anorexia, has_symptom constipation, has_symptom rosy spots on the central body, has_symptom non productive cough (in early stage of illness), has_symptom bradycardia, and has_symptom hepatosplenomegaly. (DO)" [http://en.wikipedia.org/wiki/Paratyphoid_fever "DO"] synonym: "paratyphoid" EXACT [] synonym: "paratyphoid a" EXACT [] synonym: "paratyphoid b" EXACT [] synonym: "paratyphoid c" EXACT [] synonym: "paratyphoid fever A" EXACT [] synonym: "paratyphoid fever B" EXACT [] synonym: "paratyphoid fever C" EXACT [] synonym: "Paratyphoid Fevers" EXACT [] xref: EFO:0007420 xref: ICD10CM:A01.1 xref: ICD10CM:A01.2 xref: ICD10CM:A01.3 xref: ICD10CM:A01.4 xref: ICD9CM:002.1 xref: ICD9CM:002.2 xref: ICD9CM:002.3 xref: ICD9CM:002.9 xref: MESH:D010284 xref: NCI:C34894 xref: NCI:C34895 xref: NCI:C34896 xref: NCI:C34897 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:0060859 ! salmonellosis [Term] id: DOID:3068 name: glioblastoma def: "A malignant astrocytoma characterized by the presence of small areas of necrotizing tissue that is surrounded by anaplastic cells as well as the presence of hyperplastic blood vessels, and that has_material_basis_in abnormally proliferating cells derives_from multiple cell types including astrocytes and oligondroctyes. (DO)" [http://cancergenome.nih.gov/cancersselected/glioblastomamultiforme "DO", http://en.wikipedia.org/wiki/Glioblastoma_multiforme "DO", https://www.ncbi.nlm.nih.gov/pubmed/20129251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/23029035 "DO"] synonym: "adult glioblastoma multiforme" EXACT [] synonym: "EFO:0000519" EXACT [] synonym: "GBM" EXACT [] synonym: "glioblastoma multiforme" EXACT [] synonym: "glioblastoma multiforme, somatic" NARROW [] synonym: "glioblastomas" EXACT [] synonym: "glioblastoma, somatic" NARROW [] synonym: "grade IV adult astrocytic tumor" EXACT [] synonym: "grade IV astrocytoma" EXACT [] synonym: "grade IV astrocytomas" EXACT [] synonym: "primary glioblastoma multiforme" EXACT [] synonym: "spongioblastoma multiforme" EXACT [] xref: EFO:0000519 xref: GARD:2491 xref: ICDO:9440/3 xref: MESH:D005909 xref: NCI:C129295 xref: NCI:C21938 xref: NCI:C3058 xref: NCI:C9094 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:3069 name: malignant astrocytoma def: "A malignant glioma that is has_material_basis_in astrocyte cells, a type of star-shaped glial cell, located in the brain and spinal cord. (DO)" [http://en.wikipedia.org/wiki/Astrocytoma "DO", http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors "DO"] synonym: "anaplastic oligoastrocytoma" NARROW [] synonym: "astrocytic brain tumor" NARROW [] synonym: "astrocytic glioma" EXACT [] synonym: "astrocytic gliomas" EXACT [] synonym: "astrocytic tumor" EXACT [] synonym: "astrocytoma" EXACT [] synonym: "astrocytoma, no ICD-O subtype" EXACT [] synonym: "astrocytoma of brain" NARROW [] synonym: "astrocytoma of cerebrum" NARROW [] synonym: "astrocytomas" EXACT [] synonym: "astroglioma" EXACT [] synonym: "astrogliomas" EXACT [] synonym: "cerebral astrocytoma" NARROW [] synonym: "cerebral astrocytomas" NARROW [] synonym: "Childhood Cerebral Astrocytoma" NARROW [] synonym: "childhood cerebral astrocytomas" NARROW [] synonym: "EFO:0000272" EXACT [] synonym: "grade I astrocytoma" NARROW [] synonym: "grade I astrocytomas" NARROW [] synonym: "grade II astrocytoma" NARROW [] synonym: "grade II astrocytomas" NARROW [] synonym: "intracranial astrocytoma" NARROW [] synonym: "intracranial astrocytomas" NARROW [] synonym: "mixed oligoastrocytoma" NARROW [] synonym: "mixed oligoastrocytomas" NARROW [] xref: EFO:0000271 xref: EFO:0000272 xref: EFO:0002500 xref: MESH:D001254 xref: MONDO:0021636 xref: NCI:C4951 xref: NCI:C60436 xref: NCI:C60781 xref: NCI:C6958 is_a: DOID:3070 ! high grade glioma is_a: DOID:368 ! cerebrum cancer [Term] id: DOID:3070 name: high grade glioma alt_id: MIM:137800 alt_id: MIM:607248 alt_id: MIM:613028 alt_id: MIM:613029 alt_id: MIM:613030 alt_id: MIM:613031 alt_id: MIM:613032 alt_id: MIM:613033 alt_id: MIM:616568 def: "A cell type cancer that has_material_basis_in glial cells and is located in brain or located in spine. (DO)" [http://en.wikipedia.org/wiki/Malignant_glioma "DO"] synonym: "ASTROCYTOMA" NARROW [] synonym: "BRAINSTEM GLIOMA" NARROW [] synonym: "EPENDYMOMA" NARROW [] synonym: "glial cell tumor" EXACT [] synonym: "glial cell tumors" EXACT [] synonym: "glioma" EXACT [] synonym: "gliomas" EXACT [] synonym: "glioma susceptibility 1" RELATED [] synonym: "glioma susceptibility 2" RELATED [] synonym: "glioma susceptibility 3" RELATED [] synonym: "glioma susceptibility 4" RELATED [] synonym: "glioma susceptibility 5" RELATED [] synonym: "glioma susceptibility 6" RELATED [] synonym: "glioma susceptibility 7" RELATED [] synonym: "glioma susceptibility 8" RELATED [] synonym: "glioma susceptibility 9" RELATED [] synonym: "GLM" BROAD [] synonym: "GLM1" RELATED [] synonym: "GLM2" RELATED [] synonym: "GLM3" RELATED [] synonym: "GLM4" RELATED [] synonym: "GLM5" RELATED [] synonym: "GLM6" RELATED [] synonym: "GLM7" RELATED [] synonym: "GLM8" RELATED [] synonym: "GLM9" RELATED [] synonym: "malignant glioma" EXACT [] synonym: "malignant gliomas" EXACT [] synonym: "malignant neuroglial tumor" EXACT [] synonym: "neuroglial tumor" EXACT [] synonym: "oligodendroglioma" NARROW [] synonym: "rosette-forming glioneuronal tumor" NARROW [] synonym: "subependymoma" NARROW [] xref: EFO:0000520 xref: EFO:0005543 xref: ICDO:9380/3 xref: MESH:D005910 xref: MIM:PS137800 xref: NCI:C129297 xref: NCI:C3059 xref: NCI:C4822 xref: NCI:C64069 xref: ORDO:182067 is_a: DOID:0050687 ! cell type cancer is_a: DOID:0060564 ! spinal disease is_a: DOID:1319 ! brain cancer is_a: DOID:184 ! bone cancer [Term] id: DOID:3071 name: gliosarcoma def: "A gliomablastoma that is characterized by a biphasic tissue pattern with alternating areas displaying glial and mesenchymal differentiation. (DO)" [https://en.wikipedia.org/wiki/Gliosarcoma "DO", https://www.cancer.gov/rare-brain-spine-tumor/tumors/gliosarcoma "DO"] synonym: "EFO:1001465" EXACT [] synonym: "Glioblastoma with Sarcomatous Component" EXACT [] synonym: "Gliosarcomas" EXACT [] synonym: "Sarcomatous Glioma" EXACT [] synonym: "Sarcomatous Gliomas" EXACT [] xref: EFO:1001465 xref: GARD:5653 xref: ICDO:9442/3 xref: MESH:D018316 xref: NCI:C3796 is_a: DOID:3068 ! glioblastoma [Term] id: DOID:3073 name: brain glioblastoma multiforme def: "A brain glioma that has_material_basis_in abnormally proliferating cells derives_from glial cells, has_symptom seizure, headaches, nausea and vomiting, memory loss, changes to personality, mood or concentration; and localized neurological problems. (DO)" [https://en.wikipedia.org/wiki/Glioblastoma "DO"] synonym: "brain glioblastoma" EXACT [] synonym: "EFO:0006545" EXACT [] synonym: "glioblastoma multiforme of brain" EXACT [] xref: EFO:0000515 xref: EFO:0006545 xref: NCI:C4642 is_a: DOID:0060108 ! brain glioma is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:3074 name: giant cell glioblastoma def: "A glioblastoma that is characterized by a prevalence of bizarre, multinucleated giant cells. (DO)" [http://en.wikipedia.org/wiki/Giant-cell_glioblastoma "DO", http://neuro-oncology.oxfordjournals.org/content/11/6/833.full "DO"] synonym: "giant cell glioblastomas" EXACT [] synonym: "monstrocellular sarcoma" EXACT [] xref: ICDO:9441/3 xref: NCI:C4325 is_a: DOID:3068 ! glioblastoma created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:3076 name: adult astrocytic tumor def: "A malignant astrocytoma that occurs during adulthood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C7049 "DO"] synonym: "adult astrocytic tumour" EXACT [] synonym: "adult astrocytoma" EXACT [] xref: NCI:C7049 is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:3078 name: anaplastic astrocytoma def: "A malignant astrocytoma that is characterized by cells with regular, round to oval nuclei. (DO)" [http://en.wikipedia.org/wiki/Anaplastic_astrocytoma "DO", http://www.cancer.gov/dictionary?CdrID=45591 "DO"] synonym: "anaplastic astrocytomas" EXACT [] synonym: "EFO:0002499" EXACT [] synonym: "grade III astrocytic tumor" EXACT [] synonym: "grade III astrocytoma" EXACT [] synonym: "grade III astrocytomas" EXACT [] xref: EFO:0002499 xref: GARD:5860 xref: MONDO:0016684 xref: NCI:C129292 xref: NCI:C9477 xref: ORDO:251589 is_a: DOID:3069 ! malignant astrocytoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3079 name: childhood astrocytic tumor synonym: "juvenile astrocytoma" EXACT [] synonym: "pediatric astrocytoma" EXACT [] xref: NCI:C9022 is_a: DOID:3069 ! malignant astrocytoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:308 name: early myoclonic encephalopathy synonym: "benign infantile myoclonic epilepsy" EXACT [] synonym: "Early Childhood Epilepsy, Myoclonic" EXACT [] synonym: "Epilepsy, generalized myoclonic, with photosensitivity" NARROW [] synonym: "Epileptic seizures, myoclonic" EXACT [] synonym: "Infantile Myoclonic Epilepsies" EXACT [] synonym: "Infantile Myoclonic Epilepsy" EXACT [] synonym: "Infantile Severe Myoclonic Epilepsy" EXACT [] is_a: DOID:0050702 ! neonatal period electroclinical syndrome is_a: DOID:9005154 ! Myoclonic Epilepsies created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3081 name: cystic lymphangioma def: "A cystic growth originating from lymphatic tissue. It is usually found in the neck, axilla, or groin." [MESH:D018191] synonym: "Cystic Hygroma" EXACT [] synonym: "Cystic Hygroma Colli" EXACT [] synonym: "Cystic Hygromas" EXACT [] synonym: "Cystic Lymphangiomas" EXACT [] synonym: "EFO:1000888" EXACT [] synonym: "Hygroma" EXACT [] synonym: "Hygromas" EXACT [] xref: EFO:1000888 xref: GARD:6234 xref: ICDO:9173/0 xref: MESH:D018191 xref: MONDO:0009761 xref: NCI:C3724 xref: ORDO:79486 is_a: DOID:1475 ! lymphangioma [Term] id: DOID:3082 name: interstitial lung disease def: "A lung disease that is characterized by inflammation and altered lung interstitium compromising pulmonary function and often has_symptom shortness of breath, dyspnea, and/or cough. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4215823/ "DO"] synonym: "alveolitis" EXACT [] synonym: "diffuse parenchymal lung diseases" EXACT [] synonym: "ILD" EXACT [] synonym: "interstitial lung diseases" EXACT [] synonym: "interstitial pneumonia" EXACT [] synonym: "interstitial pneumonias" EXACT [] synonym: "interstitial pneumonitides" EXACT [] synonym: "interstitial pneumonitis" EXACT [] synonym: "pulmonary alveolitis" EXACT [] xref: EFO:0004244 xref: EFO:0009624 xref: GARD:13336 xref: ICD10CM:J84.9 xref: MESH:D017563 xref: MIM:PS619611 xref: NCI:C164315 is_a: DOID:65 ! connective tissue disease is_a: DOID:850 ! lung disease [Term] id: DOID:3083 name: chronic obstructive pulmonary disease alt_id: DOID:9005540 alt_id: MIM:606963 def: "An obstructive lung disease that is a chronic and progressive disorder of small airways in the lungs and that is characterized by irreversible airflow obstruction, typically identified by reductions in quantitative spirometric indices, induced forced expiratory volume at 1 second (FEV1) and the ratio of FEV1 to forced vital capacity (less than 0.7 is diagnostic of COPD). Lung volume is increased and pulmonary hypertension may occur. The pathologic changes result in the disruption of the airflow in the bronchial airways. Signs and symptoms include shortness of breath, wheezing, productive cough and chest tightness. COPD is a consequence (an end result) of chronic bronchitis, emphysema or both. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28513453/ "DO", https://pubmed.ncbi.nlm.nih.gov/32745458/ "DO", https://pubmed.ncbi.nlm.nih.gov/32800196/ "DO", https://www.nhlbi.nih.gov/health/copd "DO"] synonym: "ANTICHYMOTRYPSIN BONN 1" RELATED [] synonym: "Chronic Airflow Obstruction" EXACT [] synonym: "Chronic Airflow Obstructions" EXACT [] synonym: "Chronic Obstructive Airway Disease" EXACT [] synonym: "Chronic Obstructive Lung Disease" EXACT [] synonym: "CHRONIC OBSTRUCTIVE PULMONARY DISEASE, BIOMASS RELATED" NARROW [] synonym: "Chronic Obstructive Pulmonary Disease, Severe Early-Onset" NARROW [] synonym: "chronic obstructive pulmonary disease, susceptibility to" RELATED [] synonym: "COAD" EXACT [] synonym: "COLD" EXACT [] synonym: "COPD" EXACT [] synonym: "COPD, severe early-onset" NARROW [] synonym: "HMOX1-RELATED CONDITION" RELATED [] synonym: "PULMONARY DISEASE, CHRONIC OBSTRUCTIVE, RATE OF DECLINE OF LUNG FUNCTION IN" NARROW [] xref: EFO:0000341 xref: ICD10CM:J44.9 xref: MESH:C564641 xref: MESH:D029424 xref: NCI:C3199 is_a: DOID:2320 ! obstructive lung disease [Term] id: DOID:3086 name: gingival overgrowth def: "Excessive growth of the gingiva either by an increase in the size of the constituent cells (GINGIVAL HYPERTROPHY) or by an increase in their number (GINGIVAL HYPERPLASIA). (From Jablonski's Dictionary of Dentistry, 1992, p574)" [MESH:D019214] synonym: "gingival enlargement" EXACT [] synonym: "gingival overgrowths" EXACT [] xref: ICD10CM:K06.1 xref: MESH:D019214 is_a: DOID:1483 ! gingival disease [Term] id: DOID:3087 name: gingivitis def: "Inflammation of gum tissue (GINGIVA) without loss of connective tissue." [MESH:D005891] synonym: "acute gingivitis" EXACT [] synonym: "chronic gingivitis" EXACT [] synonym: "Gingivitides" EXACT [] xref: ICD10CM:K05.0 xref: ICD10CM:K05.1 xref: ICD10CM:K05.10 xref: ICD9CM:523.0 xref: ICD9CM:523.1 xref: MESH:D005891 xref: NCI:C34474 xref: NCI:C34636 is_a: DOID:1483 ! gingival disease [Term] id: DOID:3089 name: granulomatous orchitis synonym: "Non-Specific Granulomatous Orchitis" EXACT [NCI2004_11_17:C27162] xref: NCI:C27162 xref: RDO:9003856 is_a: DOID:2519 ! testicular disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3091 name: Acinetobacter infectious disease def: "An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter. (DO)" [https://www.cdc.gov/HAI/organisms/acinetobacter.html "DO"] synonym: "Acinetobacter infection" EXACT [] synonym: "Acinetobacter infections" EXACT [] synonym: "Mimae Infection" EXACT [] synonym: "Mimae Infections" EXACT [] xref: EFO:1000792 xref: MESH:D000151 is_a: DOID:0050340 ! opportunistic bacterial infectious disease is_a: DOID:9005227 ! Moraxellaceae Infections [Term] id: DOID:3093 name: nervous system cancer def: "An organ system cancer located_in the nervous system that affects the central or peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Nervous_system_disease "DO"] synonym: "EFO:0007392" EXACT [] synonym: "malignant neoplasm of nervous system" EXACT [] xref: EFO:0007392 xref: ICD9CM:192.9 xref: NCI:C35562 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9006557 ! Nervous System Neoplasms [Term] id: DOID:3095 name: germ cell and embryonal cancer def: "A germ cell cancer that is derives_from a mixture of germs cells and embryonal cells. (DO)" [http://en.wikipedia.org/wiki/Germ_cell "DO"] synonym: "embryonal and mixed cancer" EXACT [] synonym: "embryonal cancer" EXACT [] synonym: "embryonal cancers" EXACT [] is_a: DOID:1115 ! sarcoma is_a: DOID:2994 ! germ cell cancer is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:3096 name: stenosis of lacrimal sac xref: ICD10CM:H04.57 xref: ICD9CM:375.54 is_a: DOID:1400 ! lacrimal apparatus disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:3098 name: small cell sarcoma def: "A sarcoma characterized by the presence of small round or elongated malignant cells with a small amount of cytoplasm. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36202860/ "DO", MESH:D018228] synonym: "EFO:1001184" EXACT [] synonym: "small cell sarcomas" EXACT [] xref: EFO:1001184 xref: ICDO:8803/3 xref: MESH:D018228 xref: NCI:C3746 is_a: DOID:1115 ! sarcoma [Term] id: DOID:310 name: MERRF Syndrome alt_id: MIM:545000 def: "A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopathy. Dysarthria, optic atrophy, growth retardation, deafness, and dementia may also occur. This condition tends to present in childhood and to be transmitted via maternal lineage. Muscle biopsies reveal ragged-red fibers and respiratory chain enzymatic defects. (From Adams et al., Principles of Neurology, 6th ed, p986)" [MESH:D017243] synonym: "Fukuhara Disease" EXACT [] synonym: "Fukuhara Syndrome" EXACT [] synonym: "Merff Syndrome" EXACT [] synonym: "MERRF" EXACT [] synonym: "Myoclonic Epilepsy and Ragged Red Fibers" EXACT [] synonym: "Myoclonic Epilepsy Associated with Ragged Red Fibers" EXACT [] synonym: "myoclonic epilepsy - ragged red fibers" EXACT [] synonym: "Myoclonic Epilepsy with Ragged Red Fibers" EXACT [] synonym: "myoclonus epilepsy and ragged red fibers" EXACT [] synonym: "myoclonus with epilepsy and with ragged red fibers" EXACT [] synonym: "Myoclonus with Epilepsy with Ragged Red Fibers" EXACT [] synonym: "Myoencephalopathy Ragged Red Fiber Disease" EXACT [] xref: ICD10CM:E88.42 xref: MESH:D017243 xref: NCI:C84889 is_a: DOID:225 ! syndrome is_a: DOID:890 ! mitochondrial encephalomyopathy is_a: DOID:891 ! progressive myoclonus epilepsy is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:3103 name: thoracic outlet syndrome def: "A vascular disease that is characterized by compression at the superior thoracic outlet[1] resulting from excess pressure placed on a neurovascular bundle passing between the anterior scalene and middle scalene muscles. (DO)" [http://en.wikipedia.org/wiki/Thoracic_outlet_syndrome "DO"] synonym: "aperture syndrome, thoracic outlet" EXACT [] synonym: "arterial thoracic outlet syndrome" EXACT [] synonym: "costoclavicular syndrome" EXACT [] synonym: "costoclavicular syndromes" EXACT [] synonym: "Neurogenic Thoracic Outlet Syndrome" EXACT [] synonym: "Scalenus Anticus Syndrome" EXACT [] synonym: "Superior Thoracic Aperture Syndrome" EXACT [] synonym: "Thoracic Outlet Nerve Compression Syndrome" EXACT [] synonym: "thoracic outlet neurologic syndrome" EXACT [] synonym: "thoracic outlet neurovascular syndrome" EXACT [] synonym: "thoracic outlet syndromes" EXACT [] synonym: "TOS - thoracic outlet syndrome" EXACT [] synonym: "venous thoracic outlet syndrome" EXACT [] xref: EFO:0007507 xref: GARD:7759 xref: MESH:D013901 xref: MONDO:0005979 xref: NCI:C85188 xref: ORDO:97330 is_a: DOID:178 ! vascular disease is_a: DOID:573 ! nerve compression syndrome [Term] id: DOID:3107 name: toxascariasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of dogs, cats and foxes with Toxascaris leonina causing damage to the lining of the intestine. The symptoms include diarrhea, vomiting and loss of appetite. (DO)" [http://en.wikipedia.org/wiki/Toxascaris_leonina "DO"] synonym: "toxascariases" EXACT [] xref: EFO:0007515 xref: MESH:D017227 xref: MONDO:0005987 is_a: DOID:9000395 ! Ascaridida Infections [Term] id: DOID:3108 name: ascaridiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine of humans and birds with nematodes of the genus Ascaridia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18367882 "DO"] synonym: "ascaridiases" EXACT [] xref: EFO:0007155 xref: MESH:D001198 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9000395 ! Ascaridida Infections [Term] id: DOID:3109 name: idiopathic CD4-positive T-lymphocytopenia def: "A lymphopenia that is caused by a reduction of CD4+ T lymphocytes. (DO)" [http://en.wikipedia.org/wiki/Idiopathic_CD4%2B_lymphocytopenia "DO"] synonym: "CD4+ T lymphocytopenia" EXACT [] synonym: "CD4+ T-lymphocytopenias" EXACT [] synonym: "ICL" EXACT [] synonym: "idiopathic CD4+ T lymphocytopenia" EXACT [] synonym: "idiopathic CD4 lymphopenia" EXACT [] xref: EFO:0007322 xref: MESH:D018344 xref: NCI:C84780 is_a: DOID:9008671 ! T-Lymphocytopenia [Term] id: DOID:3110 name: papillary cystadenocarcinoma def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with cysts and papillary endophytic projections. (DO)" [http://www.sciencedirect.com/science/article/pii/S1741940905000841 "DO"] synonym: "EFO:0000639" EXACT [] synonym: "papillary cystadenocarcinomas" EXACT [] xref: EFO:0000639 xref: GARD:10162 xref: ICDO:8450/3 xref: MESH:D018283 xref: NCI:C3777 is_a: DOID:3111 ! cystadenocarcinoma [Term] id: DOID:3111 name: cystadenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, in which cystic accumulations of retained secretions are formed. (DO)" [http://en.wikipedia.org/wiki/Cystadenocarcinoma "DO"] synonym: "cystadenocarcinomas" EXACT [] synonym: "EFO:0006387" EXACT [] xref: EFO:0006387 xref: ICDO:8440/3 xref: MESH:D003536 xref: NCI:C2971 is_a: DOID:299 ! adenocarcinoma is_a: DOID:60004 ! malignant cystadenoma is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms [Term] id: DOID:3112 name: papillary adenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which form complex papillary structures and exhibit compressive, destructive growth that replaces the normal tissue. (DO)" [http://en.wikipedia.org/wiki/Papillary_adenocarcinoma "DO"] synonym: "infiltrating and papillary adenocarcinoma" EXACT [] synonym: "infiltrating papillary adenocarcinoma" EXACT [] synonym: "papillary adenocarcinomas" EXACT [] xref: ICDO:8260/3 xref: MESH:D000231 xref: NCI:C2853 xref: NCI:C7438 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:3113 name: papillary carcinoma def: "A carcinoma that is derives_from epithelial cells with finger like projections. (DO)" [http://breastcancer.about.com/od/types/p/papillary_ca.htm "DO"] synonym: "EFO:1000646" EXACT [] synonym: "papillary carcinomas" EXACT [] xref: EFO:1000646 xref: ICDO:8050/3 xref: MESH:D002291 xref: NCI:C2927 is_a: DOID:305 ! carcinoma is_a: DOID:3168 ! squamous cell neoplasm [Term] id: DOID:3114 name: serous cystadenocarcinoma def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)" [http://ukpmc.ac.uk/abstract/MED/16025006 "DO"] synonym: "EFO:0003825" EXACT [] synonym: "serous adenocarcinoma" EXACT [] synonym: "serous carcinoma" EXACT [] synonym: "serous cystadenocarcinomas" EXACT [] synonym: "serous papillary cystadenocarcinoma ovary" EXACT [] xref: EFO:0003825 xref: MESH:D018284 xref: NCI:C3778 xref: NCI:C40101 is_a: DOID:3111 ! cystadenocarcinoma [Term] id: DOID:3116 name: kidney benign neoplasm synonym: "Ossifying Renal Tumor of Infancy" NARROW [] synonym: "renal and ureteral tumor" EXACT [] synonym: "Renal Angiomyoadenomatous Tumor" NARROW [] xref: EFO:1000111 xref: EFO:1000409 xref: EFO:1000507 xref: NCI:C7514 is_a: DOID:731 ! urinary system benign neoplasm is_a: DOID:9002265 ! Kidney Neoplasms created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3117 name: hepatobiliary benign neoplasm def: "A gastrointestinal system benign neoplasm located_in the hepatobiliary system. (DO)" [http://en.wikipedia.org/wiki/Hepatobiliary_system "DO"] synonym: "EFO:0008550" EXACT [] synonym: "hepatobiliary tumors" EXACT [] xref: EFO:0008550 xref: NCI:C8614 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:3118 ! hepatobiliary disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3118 name: hepatobiliary disease def: "A gastrointestinal system disease that is located_in the liver and/or biliary tract. (DO)" [http://en.wikipedia.org/wiki/Hepato-biliary_diseases "DO"] synonym: "liver and biliary tract disease" EXACT [] xref: EFO:0010284 xref: NCI:C3959 xref: RDO:9003386 is_a: DOID:77 ! gastrointestinal system disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:3119 name: gastrointestinal system cancer def: "An organ system cancer located_in gastrointestinal tract that is manifested in organs of the gastrointestinal system. (DO)" [http://en.wikipedia.org/wiki/Human_gastrointestinal_tract "DO"] synonym: "AERODIGESTIVE TRACT CANCER, SUSCEPTIBILITY TO" RELATED [] synonym: "cancer of digestive system" EXACT [] synonym: "cancer of gastrointestinal tract" EXACT [] synonym: "cancer of the digestive system" EXACT [] synonym: "cancer of the gastrointestinal tract" EXACT [] synonym: "digestive system cancer" EXACT [] synonym: "digestive system cancers" EXACT [] synonym: "gastrointestinal tract cancer" EXACT [] synonym: "gastrointestinal tract cancers" EXACT [] synonym: "GI tumor" EXACT [] xref: ICD10CM:C26.9 xref: ICD9CM:239.0 xref: NCI:C3052 xref: NCI:C4890 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:312 name: tenosynovitis of foot and ankle def: "A tenosynovitis that is located in the foot and ankle. (DO)" [https://medlineplus.gov/ency/article/001242.htm "DO"] xref: ICD9CM:727.06 is_a: DOID:970 ! tenosynovitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3120 name: gallbladder papillomatosis def: "A gallbladder benign neoplasm composed of epithelial tissue on papillae of vascularized connective tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25351203/ "DO"] xref: NCI:C7130 is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3121 name: gallbladder cancer def: "A biliary tract cancer that is located_in the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Gallbladder "DO"] synonym: "cancer of gallbladder" EXACT [] synonym: "gallbladder Ca" EXACT [] synonym: "gall bladder cancer" EXACT [] synonym: "gall bladder cancers" EXACT [] synonym: "gallbladder cancers" EXACT [] synonym: "localized malignant gallbladder neoplasm" EXACT [] synonym: "malignant neoplasm of gallbladder" EXACT [] synonym: "malignant tumor of the gallbladder" EXACT [] synonym: "malignant tumour of gallbladder" EXACT [] xref: GARD:9328 xref: ICD10CM:C23 xref: ICD9CM:156.0 xref: NCI:C3048 xref: NCI:C35676 xref: NCI:C7481 is_a: DOID:4607 ! biliary tract cancer is_a: DOID:9000011 ! Gallbladder Neoplasms created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:3122 name: gastric outlet obstruction def: "The hindering of output from the STOMACH into the SMALL INTESTINE. This obstruction may be of mechanical or functional origin such as EDEMA from PEPTIC ULCER; NEOPLASMS; FOREIGN BODIES; or AGING." [MESH:D017219] synonym: "gastric outflow obstruction" EXACT [] synonym: "gastric outlet obstructions" EXACT [] xref: EFO:0009626 xref: EFO:1000947 xref: MESH:D017219 is_a: DOID:76 ! stomach disease [Term] id: DOID:3125 name: multiple endocrine neoplasia def: "A syndrome that is characterized by tumors in at least two endocrine glands. (DO)" [https://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia "DO"] synonym: "familial endocrine adenomatoses" EXACT [] synonym: "familial endocrine adenomatosis" EXACT [] synonym: "multiple endocrine adenomatoses" EXACT [] synonym: "multiple endocrine adenomatosis" EXACT [] synonym: "multiple endocrine adenopathies" EXACT [] synonym: "multiple endocrine adenopathy" EXACT [] synonym: "Multiple endocrine neoplasia syndrome" EXACT [] synonym: "multiple endocrine neoplasia syndromes" EXACT [] synonym: "multiple endocrine neoplasms" EXACT [] xref: MESH:D009377 xref: MIM:PS131100 is_a: DOID:9001030 ! Multiple Primary Neoplasms is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9007803 ! Endocrine Gland Neoplasms [Term] id: DOID:3127 name: proctitis def: "A rectal disease that involves inflammation of the rectal mucosa, which results from infection, inflammatory bowel disease, or radiation. Sexually transmitted pathogens (Neisseria gonorrhoeae, Chlamydia trachomatis, herpes simplex virus 1 and 2, Treponema pallidum) and enteric pathogens (Campylobacter, Shigella, Salmonella) are involved in the disease. Symptoms are rectal discomfort and bleeding. (DO)" [http://www.cdc.gov/std/Treatment/2006/proctitis.htm "DO", http://www.merck.com/mmpe/sec02/ch020/ch020i.html#sec02-ch020-ch020g-1361 "DO"] synonym: "Proctitides" EXACT [] synonym: "ulcerative proctitis" NARROW [] xref: EFO:0005628 xref: ICD10CM:K62.89 xref: MESH:D011349 xref: NCI:C38011 is_a: DOID:1285 ! rectal disease is_a: DOID:2326 ! gastroenteritis [Term] id: DOID:3128 name: anus disease def: "A rectal disease located_in the anus. (DO)" [https://www.health.harvard.edu/a_to_z/anal-disorders-a-to-z "DO", MESH:D001004] synonym: "anal disease" EXACT [] synonym: "anal fissure and fistula" EXACT [] synonym: "anus diseases" EXACT [] xref: EFO:0009660 xref: MESH:D001004 xref: NCI:C26695 is_a: DOID:1285 ! rectal disease [Term] id: DOID:3132 name: porphyria cutanea tarda alt_id: MIM:176100 def: "An acute porphyria characterized by painful, blistering skin lesions that develop on sun-exposed skin. (DO)" [http://en.wikipedia.org/wiki/Porphyria_cutanea_tarda "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/321/viewAbstract "DO"] synonym: "Familial porphyria cutanea tarda" NARROW [] synonym: "HEP" NARROW [] synonym: "PCT" EXACT [] synonym: "PCT, 'FAMILIAL' TYPE" NARROW [] synonym: "PCT, type II" NARROW [] synonym: "PORPHYRIA CUTANEA TARDA, TYPE II" NARROW [] synonym: "PORPHYRIA, HEPATOCUTANEOUS TYPE" NARROW [] synonym: "UROD DEFICIENCY PORPHYRIA, HEPATOERYTHROPOIETIC" NARROW [] synonym: "UROPORPHYRINOGEN DECARBOXYLASE DEFICIENCY" EXACT [] xref: EFO:0009043 xref: GARD:7433 xref: ICD10CM:E80.1 xref: MESH:D017119 xref: NCI:C27725 xref: ORDO:101330 is_a: DOID:3133 ! acute porphyria is_a: DOID:9005584 ! Hepatic Porphyrias [Term] id: DOID:3133 name: acute porphyria def: "A porphyria that has_symptom abdominal pain, has_symptom neuropathy, has_symptom autonomic instability and has_symptom psychosis. (DO)" [http://en.wikipedia.org/wiki/Porphyria "DO", http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/porphyrias/acute_porphyrias.html "DO"] synonym: "acute porphyrias" EXACT [] synonym: "hepatic porphyria" EXACT [SNOMEDCT_2005_07_31:55056006] xref: ORDO:100924 is_a: DOID:13268 ! porphyria [Term] id: DOID:3134 name: facial dermatosis def: "Skin diseases involving the FACE." [MESH:D005148] synonym: "facial dermatoses" EXACT [] synonym: "Favre Racouchot Syndrome" EXACT [] synonym: "Nodular Elastoidoses" EXACT [] synonym: "Nodular Elastoidosis" EXACT [] synonym: "Nodular Elastoses" EXACT [] synonym: "Nodular Elastosis" EXACT [] xref: EFO:1000698 xref: MESH:D005148 is_a: DOID:37 ! skin disease [Term] id: DOID:3136 name: scalp dermatosis def: "Skin diseases involving the SCALP." [MESH:D012536] synonym: "dermatosis of scalp" EXACT [] synonym: "scalp dermatoses" EXACT [] xref: EFO:1000761 xref: MESH:D012536 is_a: DOID:37 ! skin disease [Term] id: DOID:3138 name: acanthosis nigricans alt_id: MIM:100600 def: "A pigmentation disease characterized by velvety, darkening of the skin usually in intertriginous areas. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32516476/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK431057/ "DO"] synonym: "Acanthosis Nigrican" EXACT [] synonym: "keratosis nigricans" EXACT [] xref: EFO:1000660 xref: GARD:8603 xref: ICD10CM:L83 xref: MESH:D000052 xref: NCI:C26687 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001583 ! Melanosis [Term] id: DOID:314 name: tenosynovial giant cell tumor def: "A tumor arising in the SYNOVIAL MEMBRANE; SYNOVIAL BURSA; or TENDON sheath. It is characterized by OSTEOCLAST-like GIANT CELLS; FOAM CELLS; pigmented HEMOSIDERIN-laden MACROPHAGES and inflammatory infiltrate. It is classified either as diffuse or localized tenosynovitis." [MESH:D000070779] synonym: "EFO:1000562" EXACT [] synonym: "fibrous histiocytoma of tendon sheath" EXACT [] synonym: "giant cell tumor of tendon sheath" EXACT [] synonym: "giant cell tumor of tenosynovium" EXACT [] synonym: "giant cell tumour of tendon sheath" EXACT [] synonym: "Giant cell tumour of Tenosynovium" EXACT [] synonym: "Localized Giant Cell Tumor of the Tendon Sheath" EXACT [] synonym: "Localized Nodular Tenosynovitides" EXACT [] synonym: "Localized Nodular Tenosynovitis" EXACT [] synonym: "Localized Pigmented Villonodular Synovitis" EXACT [] synonym: "Nodular Tenosynovitides" EXACT [] synonym: "nodular tenosynovitis" EXACT [] synonym: "tenosynovial giant cell tumour" EXACT [] xref: EFO:1000562 xref: ICD9CM:727.02 xref: ICDO:9252/0 xref: MESH:D000070779 xref: NCI:C3402 is_a: DOID:200 ! benign giant cell tumor is_a: DOID:2703 ! synovitis is_a: DOID:971 ! tendinitis [Term] id: DOID:3140 name: scleredema adultorum def: "A skin disease that is characterized by induration of the skin, especially of the neck and upper trunk, has_symptom skin hardening or stiffening, and is associated with infections (especially streptococcal), hematologic malignancies, diabetes, and adverse drug reactions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30128796 "DO"] synonym: "Buschke's Scleredema" EXACT [] synonym: "Buschke scleredema" EXACT [] synonym: "Buschke Scleredema Adultorum" EXACT [] synonym: "Buschke Scleredema Diabeticorum" EXACT [] synonym: "Buschkes Scleredema" EXACT [] synonym: "Scleredema" EXACT [] synonym: "Scleredema Adultorum of Buschke" EXACT [] synonym: "Scleredema Diabeticorum" EXACT [] synonym: "Scleredema Diabeticorum of Buschke" EXACT [] synonym: "Scleredema Diabeticorums" EXACT [] synonym: "scleredemas" EXACT [] xref: EFO:1000762 xref: GARD:5975 xref: MESH:D012592 xref: NCI:C85057 is_a: DOID:3141 ! mucinoses is_a: DOID:3488 ! cellulitis [Term] id: DOID:3141 name: mucinoses def: "A connective tissue disease characterized by accumulation of glycosaminoglycan located_in the dermal tissue. (DO)" [https://en.wikipedia.org/wiki/Mucinosis "DO", https://www.dermnetnz.org/topics/cutaneous-mucinoses/ "DO"] synonym: "mucinosis" EXACT [] xref: MESH:D017520 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:3142 name: leg dermatosis def: "A nonspecific term used to denote any cutaneous lesion or group of lesions, or eruptions of any type on the leg. (From Stedman, 25th ed)" [MESH:D007868] synonym: "leg dermatoses" EXACT [] xref: EFO:1000723 xref: MESH:D007868 is_a: DOID:37 ! skin disease [Term] id: DOID:3144 name: cutis laxa def: "A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity. (DO)" [http://en.wikipedia.org/wiki/Cutis_laxa "DO", http://ghr.nlm.nih.gov/condition/cutis-laxa "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/175/viewAbstract "DO"] synonym: "CUTIS LAXA, DOMINANT/RECESSIVE" NARROW [] synonym: "dermatolyses" EXACT [] synonym: "dermatolysis" EXACT [] synonym: "dermatomegaly" EXACT [] synonym: "loose skin" EXACT [] xref: GARD:6227 xref: MESH:D003483 xref: MIM:PS123700 xref: NCI:C84663 xref: ORDO:209 is_a: DOID:37 ! skin disease is_a: DOID:65 ! connective tissue disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:3145 name: hyperlipoproteinemia type III alt_id: MIM:617347 def: "A familial hyperlipidemia that has_material_basis_in by homozygous, compound heterozygous, or heterozygous mutation in the APOE gene on chromosome 19q13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27481046/ "DO"] synonym: "APOE2 isoforms" RELATED [] synonym: "APOE3(-)-KOCHI" RELATED [] synonym: "APOE3-WASHINGTON" RELATED [] synonym: "APOE5 VARIANT" RELATED [] synonym: "apolipoprotein E, deficiency or defect of" EXACT [] synonym: "carbohydrate induced hyperlipemia" EXACT [] synonym: "CORONARY ARTERY DISEASE, SEVERE, SUSCEPTIBILITY TO" RELATED [] synonym: "Dysbetalipoproteinemia" EXACT [] synonym: "DYSBETALIPOPROTEINEMIA DUE TO DEFECT IN APOLIPOPROTEIN E-d" EXACT [] synonym: "Familial Dysbetalipoproteinemia" EXACT [] synonym: "familial hypercholesterolaemia with hyperlipaemia" EXACT [] synonym: "familial hypercholesterolemia with hyperlipemia" EXACT [] synonym: "familial type 3 hyperlipoproteinemia" EXACT [] synonym: "FLOATING-BETALIPOPROTEINEMIA" EXACT [] synonym: "hyperlipoproteinemias type III" EXACT [] synonym: "hyperlipoproteinemias type III, due to APOE2" NARROW [] synonym: "HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON)" NARROW [] synonym: "remnant hyperlipidemia" EXACT [] xref: MESH:D006952 xref: NCI:C34710 is_a: DOID:9003468 ! Apolipoprotein E, Deficiency or Defect of is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:3146 name: lipid metabolism disorder def: "An inherited metabolic disorder that involves the creation and degradation of lipids. (DO)" [http://en.wikipedia.org/wiki/Lipid_metabolism "DO"] synonym: "fatty acid metabolism disorder" EXACT [] synonym: "lipid metabolism disorders" EXACT [] synonym: "lipid metabolism, inborn error" EXACT [] synonym: "lipid metabolism, inborn errors" EXACT [] xref: MESH:D008052 xref: MESH:D052439 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:3148 name: dermal unilateral segmental cavernous angioma synonym: "Unilateral segmental cavernous hemangioma" EXACT [SNOMEDCT_2005_07_31:254783008] synonym: "Unilateral Segmental Cavernous hemangioma of the skin" EXACT [NCI2004_11_17:C4750] xref: RDO:9004568 is_a: DOID:483 ! cavernous hemangioma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:3149 name: keratoacanthoma def: "A benign, non-neoplastic, usually self-limiting epithelial lesion closely resembling squamous cell carcinoma clinically and histopathologically. It occurs in solitary, multiple, and eruptive forms. The solitary and multiple forms occur on sunlight exposed areas and are identical histologically; they affect primarily white males. The eruptive form usually involves both sexes and appears as a generalized papular eruption." [] synonym: "Keratoacanthomas" EXACT [] xref: MESH:D007636 xref: NCI:C3146 is_a: DOID:3151 ! skin squamous cell carcinoma [Term] id: DOID:315 name: synovium neoplasm synonym: "synovial neoplasm" EXACT [] synonym: "tumor of synovium" EXACT [] xref: NCI:C8964 is_a: DOID:0060123 ! connective tissue benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3151 name: skin squamous cell carcinoma def: "A skin carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "cutaneous squamous cell carcinoma" EXACT [] synonym: "epidermoid skin carcinoma" EXACT [] synonym: "spinous cell carcinoma" EXACT [] synonym: "squamous cell carcinoma of skin" EXACT [] xref: EFO:1001927 xref: NCI:C4819 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3451 ! skin carcinoma created_by: rgd creation_date: 2015-08-21T00:00:00Z [Term] id: DOID:3153 name: lipomatosis def: "A disorder characterized by the accumulation of encapsulated or unencapsulated tumor-like fatty tissue resembling LIPOMA." [MESH:D008068] synonym: "lipomatoses" EXACT [] xref: EFO:1000728 xref: MESH:D008068 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:37 ! skin disease [Term] id: DOID:3156 name: hypomelanosis of Ito def: "A skin disease that is characterized by distinctive skin changes, in which areas of the body lack skin color (hypopigmentation). (DO)" [https://rarediseases.org/rare-diseases/hypomelanosis-of-ito/ "DO"] synonym: "Bloch-Siemans syndrome" EXACT [] synonym: "HMI" EXACT [] synonym: "incontinentia pigmenti achromians" EXACT [] synonym: "incontinentia pigmenti achromians syndrome" EXACT [] synonym: "incontinentia pigmenti syndrome" EXACT [] synonym: "incontinentia pigmenti, type I" EXACT [] synonym: "IP1" EXACT [] synonym: "IPA" EXACT [] synonym: "ITO" EXACT [] synonym: "Ito's nevus" EXACT [] synonym: "ITO hypomelanosis" EXACT [] synonym: "nevus fuscocaeruleus acromiodeltoideus" EXACT [] synonym: "nevus of Ito" EXACT [] xref: EFO:1000395 xref: EFO:1000716 xref: MIM:300337 xref: MONDO:0010631 xref: NCI:C7582 xref: ORDO:263432 is_a: DOID:12305 ! Bloch-Sulzberger syndrome is_a: DOID:9005660 ! Hypopigmentation created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:3158 name: hand dermatosis def: "Skin diseases involving the HANDS." [MESH:D006229] synonym: "Hand Dermatoses" EXACT [] xref: EFO:1000706 xref: MESH:D006229 is_a: DOID:37 ! skin disease [Term] id: DOID:3159 name: photosensitivity disease def: "Abnormal responses to sunlight or artificial light due to extreme reactivity of light-absorbing molecules in tissues. It refers almost exclusively to skin photosensitivity, including sunburn, reactions due to repeated prolonged exposure in the absence of photosensitizing factors, and reactions requiring photosensitizing factors such as photosensitizing agents and certain diseases. With restricted reference to skin tissue, it does not include photosensitivity of the eye to light, as in photophobia or photosensitive epilepsy." [MESH:D010787] synonym: "Actinic Dermatitides" EXACT [] synonym: "Actinic Dermatitis" EXACT [] synonym: "Actinic Reticuloid Syndrome" EXACT [] synonym: "Actinic Reticuloid Syndromes" EXACT [] synonym: "Chronic Actinic Dermatitides" EXACT [] synonym: "Chronic Actinic Dermatitis" EXACT [] synonym: "Photodermatitides" EXACT [] synonym: "Photodermatitis" EXACT [] synonym: "Photosensitivity Disorder" EXACT [] synonym: "Photosensitivity Disorders" EXACT [] synonym: "Photosensitization" EXACT [] xref: EFO:1000752 xref: MESH:D010787 xref: RDO:0001713 is_a: DOID:2723 ! dermatitis is_a: DOID:37 ! skin disease [Term] id: DOID:3162 name: malignant spindle cell melanoma def: "A melanoma that is composed of spindled neoplastic cells arranged in sheets and fascicles. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6144801/ "DO"] synonym: "desmoplastic melanoma" RELATED [] synonym: "EFO:1000546" EXACT [] synonym: "spindle cell melanoma" EXACT [] synonym: "Spitzoid malignant melanoma" EXACT [] xref: EFO:1000546 xref: NCI:C4237 is_a: DOID:1909 ! melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:3165 name: skin benign neoplasm def: "A benign proliferation in the skin." [] synonym: "benign neoplasm of skin" EXACT [] synonym: "benign tumor of skin" EXACT [] xref: EFO:0004198 xref: NCI:C3372 is_a: DOID:0060121 ! integumentary system benign neoplasm is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:3168 name: squamous cell neoplasm def: "A cell type benign neoplasm composed_of epithelial cells located_in the ectodermal or endodermal cells linking body cavities. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "epidermoid cell tumor" EXACT [] synonym: "squamous cell neoplasms" EXACT [] synonym: "squamous cell tumor" EXACT [] xref: MESH:D018307 xref: NCI:C3792 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:3172 name: papillary adenoma synonym: "glandular papilloma" EXACT [] synonym: "papillary adenomas" EXACT [] xref: ICDO:8260/0 xref: NCI:C79951 is_a: DOID:2615 ! papilloma is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:3173 name: fallopian tube serous papilloma def: "A fallopian tube benign neoplasm that has_material_basis_in the serosa and is characterized by exophytic growth. (DO)" [https://en.wikipedia.org/wiki/Papilloma "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/search?contains=true&q=serous "DO"] xref: NCI:C40112 xref: RDO:9005012 is_a: DOID:0060111 ! fallopian tube benign neoplasm created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:3177 name: verrucous papilloma xref: ICDO:8051/0 xref: NCI:C4101 is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3178 name: skin papilloma def: "A skin benign neoplasm that is composed of epithelial cells and a fibrous stalk. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK560737/ "DO"] synonym: "cutaneous papilloma" EXACT [] synonym: "papilloma of skin" EXACT [] synonym: "verruca" EXACT [] synonym: "verrucas" EXACT [] synonym: "wart" EXACT [] synonym: "warts" EXACT [] xref: MESH:D014860 xref: NCI:C4614 is_a: DOID:11166 ! papillomavirus infectious disease is_a: DOID:2615 ! papilloma is_a: DOID:9000894 ! Benign Skin Neoplasms, Epithelial is_a: DOID:9001063 ! Viral Skin Diseases [Term] id: DOID:3179 name: inverted papilloma def: "A mucosal tumor of the urinary bladder or nasal cavity in which proliferating epithelium is invaginated beneath the surface and is more smoothly rounded than in other papillomas. (Stedman, 25th ed)" [MESH:D018308] synonym: "Inverted Papillomas" EXACT [] synonym: "squamous cell inverted papilloma" EXACT [] xref: MESH:D018308 xref: NCI:C3793 is_a: DOID:2615 ! papilloma [Term] id: DOID:318 name: progressive muscular atrophy synonym: "Duchenne-Aran muscular atrophy" EXACT [] synonym: "progressive muscular atrophies" EXACT [] synonym: "progressive spinal muscular atrophy" EXACT [] synonym: "pure progressive muscular atrophy" EXACT [] xref: ICD9CM:335.21 xref: NCI:C85027 is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:231 ! motor neuron disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3181 name: oligodendroglioma def: "A relatively slow-growing glioma that is derived from oligodendrocytes and tends to occur in the cerebral hemispheres, thalamus, or lateral ventricle. They may present at any age, but are most frequent in the third to fifth decades, with an earlier incidence peak in the first decade. Histologically, these tumors are encapsulated, relatively avascular, and tend to form cysts and microcalcifications. Neoplastic cells tend to have small round nuclei surrounded by unstained nuclei. The tumors may vary from well-differentiated to highly anaplastic forms. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2052; Adams et al., Principles of Neurology, 6th ed, p655)" [MESH:D009837] synonym: "EFO:0000632" EXACT [] synonym: "Mixed Oligodendroglioma Astrocytoma" NARROW [] synonym: "mixed oligodendroglioma-astrocytomas" NARROW [] synonym: "Mixed Oligodendroglioma Ependymoma" NARROW [] synonym: "mixed oligodendroglioma-ependymomas" NARROW [] synonym: "oligodendroblastoma" EXACT [] synonym: "oligodendroblastomas" EXACT [] synonym: "oligodendroglial neoplasm" EXACT [] synonym: "oligodendroglial tumor" EXACT [] synonym: "oligodendrogliomas" EXACT [] synonym: "well differentiated oligodendroglioma" EXACT [] synonym: "well-differentiated oligodendrogliomas" EXACT [] xref: EFO:0000631 xref: EFO:0000632 xref: GARD:9953 xref: ICDO:9450/3 xref: MESH:D009837 xref: NCI:C129319 xref: NCI:C3288 xref: NCI:C6960 is_a: DOID:3070 ! high grade glioma [Term] id: DOID:3183 name: childhood oligodendroglioma synonym: "childhood oligodendrogliomas" EXACT [] synonym: "pediatric oligodendroglioma" EXACT [] xref: ICD-O:M9450/3 xref: NCI:C4045 is_a: DOID:3181 ! oligodendroglioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3184 name: spinal cord oligodendroglioma synonym: "oligodendroglioma of spinal cord" EXACT [] synonym: "well differentiated spinal cord oligodendroglioma" EXACT [] xref: NCI:C4535 is_a: DOID:3181 ! oligodendroglioma is_a: DOID:3185 ! spinal cord glioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3185 name: spinal cord glioma def: "A spinal cancer that is located in the spinal cord and has_material_basis_in glial cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=45700 "DO"] synonym: "glial neoplasm spinal cord" EXACT [] synonym: "glial tumor of spinal cord" EXACT [] synonym: "glioma of spinal cord" EXACT [] xref: NCI:C4534 is_a: DOID:3070 ! high grade glioma is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:3186 name: adult oligodendroglioma synonym: "adult brain oligodendroglioma" EXACT [] synonym: "grade II adult Oligodendroglial tumor" EXACT [] xref: NCI:C4014 xref: NCI:C9376 is_a: DOID:3181 ! oligodendroglioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3187 name: brain oligodendroglioma def: "A brain glioma that has_material_basis_in oligodendrocytes. (DO)" [http://www.cancer.gov/dictionary?CdrID=46257 "DO"] synonym: "oligodendroglioma of brain" EXACT [] xref: NCI:C9377 is_a: DOID:0060108 ! brain glioma is_a: DOID:3181 ! oligodendroglioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:319 name: spinal cord disease alt_id: OMIA:000263 def: "Pathologic conditions which feature SPINAL CORD damage or dysfunction, including disorders involving the meninges and perimeningeal spaces surrounding the spinal cord. Traumatic injuries, vascular diseases, infections, and inflammatory/autoimmune processes may affect the spinal cord." [MESH:D013118] synonym: "Degenerative myelopathy" NARROW [] synonym: "Myelopathies" EXACT [] synonym: "Myelopathy" EXACT [] synonym: "spinal cord diseases" EXACT [] synonym: "Spinal Cord Disorder" EXACT [] synonym: "Spinal Cord Disorders" EXACT [] xref: EFO:0009488 xref: ICD10CM:G95.9 xref: ICD9CM:336.9 xref: MESH:D013118 xref: NCI:C97110 xref: RDO:0002593 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:3191 name: nemaline myopathy def: "A congenital myopathy characterized by generally non-progressive muscle weakness of varying severity and problems with the tone and contraction of skeletal muscles. The muscle cells contain abnormal clumps of threadlike material called nemaline bodies. (DO)" [http://en.wikipedia.org/wiki/Nemaline_myopathy "DO", http://ghr.nlm.nih.gov/condition/nemaline-myopathy "DO", https://www.mda.org/disease/congenital-myopathies/types/nemaline-myopathy "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/151/viewAbstract "DO"] synonym: "adult onset nemaline myopathy" EXACT [] synonym: "Childhood Onset Nemaline Myopathy" EXACT [] synonym: "Late Onset Nemaline Myopathy" EXACT [] synonym: "Nemaline Body Disease" EXACT [] synonym: "nemaline myopathies" EXACT [] synonym: "nemaline myopathy, autosomal dominant" NARROW [] synonym: "nemaline myopathy, autosomal recessive" NARROW [] synonym: "nemaline myopathy, dominant" NARROW [] synonym: "nemaline myopathy, recessive" NARROW [] synonym: "Nemaline Rod Disease" EXACT [] synonym: "nemaline rod myopathy" EXACT [] synonym: "Rod Body Disease" EXACT [] synonym: "Rod-Body Myopathies" EXACT [] synonym: "Rod Body Myopathy" EXACT [] synonym: "Rod Myopathies" EXACT [] synonym: "rod myopathy" EXACT [] xref: EFO:0020036 xref: GARD:12033 xref: ICD10CM:G71.21 xref: MESH:D017696 xref: MIM:PS161800 xref: ORDO:607 is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:3192 name: neurilemmoma alt_id: DOID:955 def: "A neuroma that is characterized as a benign nerve sheath tumor that is composed of Schwann cells. (DO)" [https://en.wikipedia.org/wiki/Schwannoma "DO"] synonym: "benign neurilemmoma" EXACT [] synonym: "Malignant Neurilemmoma" EXACT [] synonym: "malignant neurilemmomas" EXACT [] synonym: "Malignant Neurilemoma" EXACT [] synonym: "malignant neurilemomas" EXACT [] synonym: "Malignant Schwannoma" EXACT [] synonym: "malignant schwannomas" EXACT [] synonym: "MPNST" EXACT [] synonym: "Neurilemmomas" EXACT [] synonym: "neurilemmosarcoma" EXACT [] synonym: "Neurilemmosarcomas" EXACT [] synonym: "Neurilemoma" EXACT [] synonym: "Neurilemomas" EXACT [] synonym: "neurinoma" EXACT [] synonym: "neurinomas" EXACT [] synonym: "plexiform schwannomatoses" EXACT [] synonym: "plexiform schwannomatosis" EXACT [] synonym: "psammomatous schwannoma" EXACT [] synonym: "schwannoma" EXACT [] synonym: "schwannomas" EXACT [] xref: EFO:0000693 xref: GARD:4767 xref: ICDO:9560/3 xref: MESH:D009442 xref: NCI:C21997 xref: NCI:C3269 xref: NCI:C60465 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:2001 ! neuroma [Term] id: DOID:3193 name: peripheral nerve sheath neoplasm def: "A peripheral nervous system neoplasm that is located in the connective tissue surrounding nerves. (DO)" [http://en.wikipedia.org/wiki/Malignant_peripheral_nerve_sheath_tumor "DO"] synonym: "neoplasm of the nerve sheath" EXACT [] synonym: "nerve sheath tumour" EXACT [] is_a: DOID:1192 ! peripheral nervous system neoplasm is_a: DOID:9004217 ! Nerve Sheath Neoplasms created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3196 name: cellular schwannoma def: "A neurilemmoma with a predominantly cellular growth but no Verocay bodies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2400975 "DO"] synonym: "cellular Neurinoma" EXACT [NCI2004_11_17:C4724] xref: EFO:0000693 xref: NCI:C4724 xref: RDO:9003537 is_a: DOID:3192 ! neurilemmoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:3197 name: schwannoma of twelfth cranial nerve def: "A neurilemmoma that is located_in the 12th cranial nerve. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4078147/ "DO"] synonym: "hypoglossal schwannoma" EXACT [] xref: MONDO:0002549 xref: NCI:C5434 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:13814 ! hypoglossal nerve disease is_a: DOID:2815 ! cranial nerve malignant neoplasm is_a: DOID:3192 ! neurilemmoma is_a: DOID:3198 ! hypoglossal nerve neoplasm created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3198 name: hypoglossal nerve neoplasm synonym: "neoplasm of hypoglossal nerve" EXACT [] synonym: "tumor of hypoglossal nerve" EXACT [] xref: NCI:C5830 is_a: DOID:13814 ! hypoglossal nerve disease is_a: DOID:2815 ! cranial nerve malignant neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:3199 name: C-P angle neurinoma synonym: "Cerebellopontine Angle Neurinoma" EXACT [NCI2004_11_17:C5413] xref: NCI:C5413 xref: RDO:9004057 is_a: DOID:3200 ! cerebellopontine angle tumor created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:320 name: vascular myelopathy synonym: "vascular myelopathies" EXACT [] xref: ICD10CM:G95.1 xref: ICD9CM:336.1 xref: RDO:9004271 is_a: DOID:319 ! spinal cord disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3200 name: cerebellopontine angle tumor def: "A brain stem cancer that is characterized by neoplasms in the fossa located_in cerebellopontine angle. (DO)" [https://en.wikipedia.org/wiki/Cerebellopontine_angle_syndrome "DO"] synonym: "cerebellopontine angle tumour" EXACT [] synonym: "neoplasm of the cerebellopontine angle" EXACT [] xref: NCI:C5414 is_a: DOID:4203 ! brain stem cancer created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3201 name: sympathetic neurilemmoma xref: NCI:C5421 is_a: DOID:2621 ! autonomic nervous system neoplasm is_a: DOID:3192 ! neurilemmoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3202 name: neurilemmoma of the fifth cranial nerve synonym: "trigeminal neurilemmoma" EXACT [] synonym: "trigeminal schwannoma" EXACT [] xref: NCI:C4655 xref: RDO:9003681 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:1201 ! trigeminal nerve neoplasm is_a: DOID:3192 ! neurilemmoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3203 name: macrocystic neurilemmoma xref: NCI:C5321 is_a: DOID:3192 ! neurilemmoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3204 name: schwannomatosis def: "A RASopathy characterized by the development of schwannomas or hybrid nerve sheath tumors. (DO)" [https://health.ucdavis.edu/mindinstitute/clinic/genomic-medicine/RASclinic.html "DO", https://pubmed.ncbi.nlm.nih.gov/35674741/ "DO"] synonym: "congenital cutaneous neurilemmomatosis" EXACT [] synonym: "neurilemmomatosis" EXACT [] synonym: "neurinomatosis" EXACT [] synonym: "schwannomatosis, somatic" NARROW [] synonym: "SWN" EXACT [] xref: ICD10CM:Q85.03 xref: ICD9CM:237.73 xref: ICDO:9560/1 xref: MESH:C536641 xref: MIM:PS162091 xref: MONDO:0008075 xref: NCI:C6557 xref: ORDO:93921 is_a: DOID:0080690 ! RASopathy is_a: DOID:3192 ! neurilemmoma is_a: DOID:8712 ! neurofibromatosis [Term] id: DOID:3205 name: melanotic neurilemmoma synonym: "melanotic schwannoma" EXACT [] synonym: "pigmented neurilemmoma" EXACT [] synonym: "pigmented schwannoma" EXACT [] xref: NCI:C6970 is_a: DOID:3192 ! neurilemmoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3206 name: plexiform schwannoma synonym: "plexiform neurilemmoma" EXACT [] synonym: "plexiform neurinoma" EXACT [] xref: EFO:0000693 xref: NCI:C6969 is_a: DOID:3192 ! neurilemmoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3209 name: junctional epidermolysis bullosa alt_id: OMIA:001677 def: "An epidermolysis bullosa that is characterized by recurrent blistering located in the lamina lucida of the basement membrane secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in genes related to laminin 332, which strengthens the skin. (DO)" [https://ghr.nlm.nih.gov/condition/junctional-epidermolysis-bullosa#genes "DO"] synonym: "congenital junctional epidermolysis bullosa" EXACT [] synonym: "epidermolysis bullosa junctionalis" EXACT [] synonym: "epidermolysis bullosa junctionalis, LAMA3-related" NARROW [] synonym: "epidermolysis bullosa progressiva" EXACT [] synonym: "Herlitz's disease" EXACT [] synonym: "Herlitz disease" EXACT [] synonym: "Herlitzs disease" EXACT [] xref: GARD:2152 xref: MESH:D016109 xref: MIM:PS226650 xref: NCI:C90598 is_a: DOID:2730 ! epidermolysis bullosa [Term] id: DOID:321 name: tropical spastic paraparesis alt_id: MIM:159580 def: "A viral infectious disease that results in inflammation located in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted by sexual contact, and transmitted by breast feeding. The infection has symptom spastic weakness of both legs, has symptom muscle stiffness, has symptom sensory disturbance, and has symptom spasms. (DO)" [http://en.wikipedia.org/wiki/Tropical_spastic_paraparesis "DO", http://www.merckmanuals.com/professional/sec16/ch224/ch224k.html "DO"] synonym: "Familial Spastic Paraparesis, Htlv 1 Associated" EXACT [] synonym: "HAM" EXACT [] synonym: "HAM/TSP" EXACT [] synonym: "HTLV-1-associated myelopathies" EXACT [] synonym: "Htlv-1-Associated Myelopathy" EXACT [] synonym: "HTLV-1-associated myelopathy/tropical spastic paraparesis" EXACT [] synonym: "HTLV-associated myelopathy" EXACT [] synonym: "HTLV I associated myelopathies" EXACT [] synonym: "HTLV I Associated Myelopathy" EXACT [] synonym: "HTLV I Associated Myelopathy Tropical Spastic Paraparesis" EXACT [] synonym: "Human T Lymphotropic Virus Type 1 Associated Myelopathy" EXACT [] synonym: "tropical spastic paralysis" EXACT [] synonym: "Tropical Spastic Parapareses" EXACT [] synonym: "tropical spastic paraplegia" EXACT [] synonym: "tropical spastic paraplegias" EXACT [] xref: EFO:0007527 xref: ICD10CM:G04.1 xref: MESH:D015493 xref: NCI:C179058 is_a: DOID:322 ! myelitis is_a: DOID:9002598 ! Spastic Paraparesis is_a: DOID:9002670 ! HTLV-I Infections [Term] id: DOID:3210 name: Pelizaeus-Merzbacher disease alt_id: MIM:312080 alt_id: OMIA:000770 def: "A hypomyelinating leukodystrophy characterized by impaired myelin formation, nystagmus, spastic quadriplegia, ataxia, and developmental delay that has_material_basis_in mutation in the PLP1 gene on chromosome Xq22. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK560522/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15627202 "DO", https://www.ncbi.nlm.nih.gov/pubmed/2773936 "DO", https://www.ncbi.nlm.nih.gov/pubmed/3476455 "DO"] synonym: "adult Pelizaeus Merzbacher disease" EXACT [] synonym: "atypical Pelizaeus Merzbacher disease" EXACT [] synonym: "brain Pelizaeus-Merzbacher sclerosis" EXACT [] synonym: "classic Pelizaeus Merzbacher Disease" EXACT [] synonym: "Cockayne Pelizaeus Merzbacher Disease" EXACT [] synonym: "diffuse familial brain sclerosis" EXACT [] synonym: "HLD1" EXACT [] synonym: "hypomyelinating leukodystrophy 1" EXACT [] synonym: "Pelizaeus-Merzbacher disease, connatal" NARROW [] synonym: "Pelizaeus-Merzbacher disease, mild" NARROW [] synonym: "PMD" EXACT [] synonym: "sudanophilic leukodystrophy" EXACT [] synonym: "sudanophilic leukodystrophy, Paelizeus-Merzbacher type" EXACT [] synonym: "transitional Pelizaeus Merzbacher disease" EXACT [] xref: GARD:4265 xref: MESH:D020371 xref: NCI:C75487 xref: ORDO:702 is_a: DOID:0060786 ! hypomyelinating leukodystrophy is_a: DOID:0080012 ! X-linked recessive disease [Term] id: DOID:3211 name: lysosomal storage disease def: "An inherited metabolic disorder that involve an abnormal accumulation of substances inside the lysosome resulting from defects in lysosomal function. (DO)" [http://en.wikipedia.org/wiki/Lysosomal_storage_disease "DO"] synonym: "disorder of lysosomal enzyme" EXACT [] synonym: "inborn lysosomal enzyme disorder" EXACT [] synonym: "lysosomal enzyme disorder" EXACT [] synonym: "lysosomal enzyme disorders" EXACT [] synonym: "lysosomal storage diseases" EXACT [] synonym: "lysosomal storage metabolism disorder" EXACT [] xref: MESH:D016464 xref: NCI:C61250 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:3213 name: demyelinating disease def: "A central nervous system disease that is characterized by damage to the myelin sheath present around nerve axons. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17071802 "DO"] synonym: "Clinically Isolated CNS Demyelinating Syndrome" EXACT [] synonym: "demyelinating diseases" EXACT [] synonym: "Demyelinating Disorder" EXACT [] synonym: "Demyelinating Disorders" EXACT [] synonym: "Demyelination" EXACT [] synonym: "Demyelinations" EXACT [] xref: MESH:D003711 xref: NCI:C34527 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:3216 name: jejunal somatostatinoma def: "Somatosatinoma of Jejunum" [] synonym: "jejunal delta cell somatostatin producing tumor" EXACT [] synonym: "Somatosatinoma of Jejunum" EXACT [NCI2004_11_17:C5787] xref: NCI:C5787 is_a: DOID:13499 ! jejunal cancer [Term] id: DOID:3218 name: jejunal neoplasm def: "Tumors or cancer in the JEJUNUM region of the small intestine (INTESTINE, SMALL)." [MESH:D007580] synonym: "jejunal neoplasms" EXACT [] synonym: "jejunal tumor" EXACT [] synonym: "neoplasm of jejunum" EXACT [] synonym: "tumor of jejunum" EXACT [] xref: MESH:D007580 xref: NCI:C8401 is_a: DOID:7505 ! small intestine benign neoplasm is_a: DOID:9002245 ! Intestinal Neoplasms is_a: DOID:9003144 ! Jejunal Diseases [Term] id: DOID:322 name: myelitis def: "A spinal cord disease that is characterized by inflammation of the white matter or gray matter of the spinal cord. (DO)" [https://en.wikipedia.org/wiki/Myelitis "DO"] synonym: "Infectious Myelitis" EXACT [] synonym: "inflammatory myelopathies" EXACT [] synonym: "Inflammatory Myelopathy" EXACT [] synonym: "Myelitides" EXACT [] synonym: "Spinal Cord Inflammation" EXACT [] synonym: "Spinal Cord Inflammations" EXACT [] synonym: "subacute necrotising myelitis" EXACT [] xref: EFO:1001472 xref: GARD:7130 xref: MESH:D009187 xref: NCI:C26832 is_a: DOID:319 ! spinal cord disease is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:9005372 ! Inflammation [Term] id: DOID:3222 name: causalgia def: "A complex regional pain syndrome characterized by burning pain and marked sensitivity to touch (HYPERESTHESIA) in the distribution of an injured peripheral nerve. Autonomic dysfunction in the form of sudomotor (i.e., sympathetic innervation to sweat glands), vasomotor, and trophic skin changes may also occur. (Adams et al., Principles of Neurology, 6th ed, p1359)" [MESH:D002422] synonym: "Causalgia Syndrome" EXACT [] synonym: "Causalgia Syndromes" EXACT [] synonym: "Complex Regional Pain Syndrome Type II" EXACT [] synonym: "CRPS Type II" EXACT [] synonym: "Deafferentation Pain" EXACT [] xref: EFO:1000854 xref: MESH:D002422 xref: NCI:C121572 is_a: DOID:3223 ! complex regional pain syndrome is_a: DOID:9005968 ! Neuralgia [Term] id: DOID:3223 name: complex regional pain syndrome def: "Conditions characterized by pain involving an extremity or other body region, HYPERESTHESIA, and localized autonomic dysfunction following injury to soft tissue or nerve. The pain is usually associated with ERYTHEMA; SKIN TEMPERATURE changes, abnormal sudomotor activity (i.e., changes in sweating due to altered sympathetic innervation) or edema. The degree of pain and other manifestations is out of proportion to that expected from the inciting event. Two subtypes of this condition have been described: type I; (REFLEX SYMPATHETIC DYSTROPHY) and type II; (CAUSALGIA). (From Pain 1995 Oct;63(1):127-33)" [MESH:D020918] synonym: "complex regional pain syndromes" EXACT [] synonym: "CRPS (Complex Regional Pain Syndromes)" EXACT [] xref: EFO:1001998 xref: GARD:4647 xref: MESH:D020918 xref: RDO:0005150 is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:225 ! syndrome is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:3225 name: tracheal disease def: "Diseases involving the TRACHEA." [MESH:D014133] synonym: "tracheal diseases" EXACT [] synonym: "tracheal disorder" EXACT [] xref: MESH:D014133 xref: MONDO:0002567 xref: NCI:C35079 is_a: DOID:1579 ! respiratory system disease is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:3227 name: tracheal stenosis def: "A pathological narrowing of the TRACHEA." [MESH:D014135] synonym: "stenosis of trachea" EXACT [] synonym: "Tracheal Stenoses" EXACT [] xref: MESH:D014135 xref: NCI:C78646 is_a: DOID:3225 ! tracheal disease [Term] id: DOID:3229 name: gastric dilatation alt_id: RDO:0006620 def: "Abnormal distention of the STOMACH due to accumulation of gastric contents that may reach 10 to 15 liters. Gastric dilatation may be the result of GASTRIC OUTLET OBSTRUCTION; ILEUS; GASTROPARESIS; or denervation." [MESH:D013271] synonym: "Gastric Dilation" EXACT [] synonym: "Stomach Dilatation" EXACT [] synonym: "Stomach Dilation" EXACT [] xref: MESH:D013271 is_a: DOID:76 ! stomach disease [Term] id: DOID:3230 name: high pressure neurological syndrome def: "A syndrome related to increased atmospheric pressure and characterized by tremors, nausea, dizziness, decreased motor and mental performance, and SEIZURES. This condition may occur in those who dive deeply (c. 1000 ft) usually while breathing a mixture of oxygen and helium. The condition is associated with a neuroexcitatory effect of helium." [MESH:D006610] synonym: "Experimental High Pressure Neurological Syndrome" EXACT [] synonym: "High Pressure Nervous Syndrome" EXACT [] synonym: "High Pressure Neural Syndrome" EXACT [] synonym: "HPNS" EXACT [] synonym: "HPNSs" EXACT [] xref: MESH:D006610 xref: RDO:0005803 is_a: DOID:225 ! syndrome is_a: DOID:331 ! central nervous system disease is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:3234 name: central nervous system lymphoma def: "A hematologic cancer that has_material_basis_in lymphoma located_in central nervous system. (DO)" [https://www.lls.org/lymphoma/non-hodgkin-lymphoma/treatment/treatment-for-aggressive-nhl-subtypes/central-nervous-system-cns-lymphoma "DO"] synonym: "EFO:1000157" EXACT [] synonym: "microglioma" EXACT [] synonym: "PCNSL" EXACT [] synonym: "primary central nervous system lymphoma" EXACT [] synonym: "primary CNS lymphoma" EXACT [] xref: EFO:1000157 xref: ICD9CM:200.5 xref: NCI:C9301 is_a: DOID:0060058 ! lymphoma is_a: DOID:5772 ! central nervous system hematologic cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:3240 name: aspiration pneumonitis def: "A pneumonia that is defined as an acute lung injury after the inhalation of foreign material such as regurgitated acidic gastric contents, petroleum products and laxative oils. This syndrome occurs in patients who have a marked disturbance of consciousness such as that resulting from a drug overdose, seizures, a massive cerebrovascular accident, or the use of anesthesia. Aspiration of gastric contents results in a chemical burn of the tracheobronchial tree and pulmonary parenchyma, causing an intense parenchymal inflammatory reaction. The disease has_symptom non-productive cough, has_symptom tachypnea, has_symptom bronchospasm, has_symptom bloody sputum, has_symptom frothy sputum, or has_symptom respiratory distress, 2-5 hrs after aspiration. (DO)" [http://www.nejm.org/doi/full/10.1056/NEJM200103013440908 "DO"] synonym: "Chemical pneumonitis" EXACT [] synonym: "Mendelson's Syndrome" EXACT [] xref: EFO:1001399 xref: ICD10CM:J69.0 xref: RDO:9004846 is_a: DOID:552 ! pneumonia created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:3241 name: lipid pneumonia def: "An aspiration pneumonitis resulting from the aspiration of lipids. It is the result of a foreign body-type reaction to the presence of lipid material within the lung parenchyma. It is caused by inhalation of nasal drops with oil base or cosmetic oil and aspiration of mineral oil when used as a laxative agent. (DO)" [http://en.wikipedia.org/wiki/Lipid_pneumonia "DO"] synonym: "exogenous lipoid pneumonia" EXACT [] synonym: "Lipid Pneumonias" EXACT [] synonym: "lipoid pneumonitis" EXACT [] xref: EFO:0007345 xref: ICD10CM:J69.1 xref: MESH:D011017 is_a: DOID:0050152 ! aspiration pneumonia is_a: DOID:3240 ! aspiration pneumonitis [Term] id: DOID:3246 name: embryonal rhabdomyosarcoma def: "A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. (DO)" [http://en.wikipedia.org/wiki/Embryonal_rhabdomyosarcoma "DO", http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/Patient/page1 "DO"] synonym: "EFO:0000437" EXACT [] synonym: "Embryonal Rhabdomyosarcomas" EXACT [] xref: EFO:0000437 xref: GARD:4702 xref: ICDO:8910/3 xref: MESH:D018233 xref: NCI:C8971 xref: ORDO:99757 is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:3308 ! embryonal carcinoma [Term] id: DOID:3247 name: rhabdomyosarcoma def: "A skeletal muscle cancer that arise from skeletal muscle progenitors. (DO)" [http://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO", https://pmc.ncbi.nlm.nih.gov/articles/PMC9425116/ "DO"] synonym: "EFO:0002918" EXACT [] synonym: "Rhabdomyosarcomas" EXACT [] synonym: "Rhabdomyosarcoma, somatic" NARROW [] xref: EFO:0002918 xref: ICDO:8900/3 xref: MESH:D012208 xref: NCI:C129300 xref: NCI:C24022 xref: NCI:C3359 xref: NCI:C60504 is_a: DOID:4043 ! skeletal muscle cancer [Term] id: DOID:3250 name: pleomorphic rhabdomyosarcoma synonym: "anaplastic rhabdomyosarcoma" EXACT [] xref: NCI:C4258 is_a: DOID:3247 ! rhabdomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3251 name: prostate embryonal rhabdomyosarcoma def: "A prostate rhabdomyosarcoma that is most common in children and that is characterized by a high degree of malignancy, both local rapid growth with formation of large pelvic masses, often leading to renal failure due to urethral obstruction, and systemic spread, commonly to the lungs, liver and bone. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3863144/ "DO"] synonym: "embryonal rhabdomyosarcoma of the prostate" EXACT [] xref: NCI:C5525 is_a: DOID:3246 ! embryonal rhabdomyosarcoma is_a: DOID:3252 ! prostate rhabdomyosarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3252 name: prostate rhabdomyosarcoma def: "A rhabdomyosarcoma and sarcoma of prostate that is located_in the prostate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26776454 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29468476 "DO"] synonym: "EFO:1000498" EXACT [] synonym: "rhabdomyosarcoma of the prostate" EXACT [] xref: EFO:1000498 xref: NCI:C5522 is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:4054 ! prostate sarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3253 name: embryonal extrahepatic bile duct rhabdomyosarcoma xref: NCI:C5847 is_a: DOID:3246 ! embryonal rhabdomyosarcoma is_a: DOID:3254 ! bile duct rhabdomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3254 name: bile duct rhabdomyosarcoma def: "A rhabdomyosarcoma and sarcoma of bile duct that is located_in the bile duct. (DO)" [http://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO"] synonym: "rhabdomyosarcoma of the bile duct" EXACT [] xref: NCI:C5860 is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:4064 ! bile duct sarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3255 name: botryoid rhabdomyosarcoma synonym: "botryoid sarcoma" EXACT [] synonym: "botryoid-type embryonal rhabdomyosarcoma" EXACT [] synonym: "sarcoma botryoides" EXACT [] xref: NCI:C9150 is_a: DOID:3246 ! embryonal rhabdomyosarcoma [Term] id: DOID:3258 name: orbit embryonal rhabdomyosarcoma def: "An orbit rhabdomyosarcoma that is characterized by elongated to round spindle cells with features of skeletal muscle in different stages of embryogenesis with a highly eosiniphilic cytoplasm and hyperchromatic nuclei. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/ "DO"] synonym: "embryonal rhabdomyosarcoma of the orbit" EXACT [] xref: NCI:C6246 is_a: DOID:3246 ! embryonal rhabdomyosarcoma is_a: DOID:3259 ! orbit rhabdomyosarcoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:3259 name: orbit rhabdomyosarcoma def: "An orbit sarcoma that is that arises from primitive pleuripotential mesenchymal cells that possess the ability to differentiate into striated muscle, most often in young children. (DO)" [https://eyewiki.aao.org/Orbital_Rhabdomyosarcoma "DO", https://link.springer.com/chapter/10.1007/978-1-4613-2029-6_14 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3770217/ "DO"] synonym: "rhabdomyosarcoma of orbit" EXACT [] synonym: "rhabdomyosarcoma of the orbit" EXACT [] xref: MESH:C537605 xref: NCI:C4543 is_a: DOID:4051 ! alveolar rhabdomyosarcoma is_a: DOID:9987 ! orbit sarcoma [Term] id: DOID:326 name: ischemia def: "A vascular disease that is characterized by a restriction in blood supply to tissues. (DO)" [http://en.wikipedia.org/wiki/Ischemia "DO"] synonym: "ischemias" EXACT [] xref: EFO:0000556 xref: MESH:D007511 xref: NCI:C34738 is_a: DOID:178 ! vascular disease is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:3260 name: spindle cell rhabdomyosarcoma def: "A rhabdomyosarcoma that is characterized by the presence of whorls of spindle cells forming a storiform pattern. In children it usually arises in the paratesticular region. In adults it usually arises from the deep soft tissues in the head and neck. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34958505/ "DO"] synonym: "rhabdomyosarcoma, spindle cell/sclerosing type" EXACT [] synonym: "sclerosing rhabdomyosarcoma" EXACT [] synonym: "spindle cell/sclerosing rhabdomyosarcoma" EXACT [] synonym: "Synonym Rhabdomyosarcoma, spindle cell/sclerosing type" EXACT [] xref: ICDO:8912/3 xref: NCI:C121654 xref: NCI:C6519 is_a: DOID:3247 ! rhabdomyosarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3261 name: hyper IgE recurrent infection syndrome 1 alt_id: MIM:147060 def: "A hyper IgE syndrome that has_material_basis_in heterozygous mutation in the STAT3 gene on chromosome 17q21. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK25507/ "DO", https://www.niaid.nih.gov/diseases-conditions/stat3-dominant-negative-disease "DO"] synonym: "autosomal dominant HIES" EXACT [] synonym: "Buckley syndrome" EXACT [] synonym: "Buckley syndromes" EXACT [] synonym: "HIES1" EXACT [] synonym: "hyper-IgE recurrent infection syndrome 1, autosomal dominant" EXACT [] synonym: "hyper-IgE recurrent infection syndrome, autosomal dominant" EXACT [] synonym: "hyper-IgE syndrome 1, autosomal dominant, with recurrent infections" EXACT [] synonym: "hyper-IgE syndrome, autosomal dominant" EXACT [] synonym: "hyper Immunoglobulin E syndrome, autosomal dominant" EXACT [] synonym: "Job's syndrome" EXACT [] synonym: "Job-Buckley syndrome" EXACT [] synonym: "Jobs syndrome" EXACT [] synonym: "Job syndrome" EXACT [] synonym: "Job syndromes" EXACT [] synonym: "STAT3 Hyper IgE syndrome" EXACT [] synonym: "STAT3-RELATED CONDITIONS" BROAD [] xref: EFO:0003775 xref: GARD:6800 xref: MESH:C567925 xref: MONDO:0007818 xref: NCI:C126342 xref: NCI:C126343 xref: ORDO:2314 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080545 ! hyper IgE syndrome creation_date: 2019-08-30T08:12:29Z [Term] id: DOID:3262 name: phagocyte bactericidal dysfunction def: "A primary immunodeficiency disease where phagocytes have a diminished ability to fight bacterial infection. (DO)" [http://en.wikipedia.org/wiki/Phagocyte_bactericidal_dysfunction "DO"] synonym: "phagocyte bactericidal dysfunctions" EXACT [] synonym: "phagocytic dysfunction" EXACT [] xref: EFO:0007433 xref: MESH:D010585 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:3263 name: piebaldism alt_id: MIM:172800 def: "An integumentary system disease characterized by congenital absence of melanocytes in areas of the skin and hair that has_material_basis_in heterozygous mutation in the KIT gene on chromosome 4q12. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32975012/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15485525 "DO", https://www.ncbi.nlm.nih.gov/pubmed/1717985 "DO"] comment: DO: This disease previously was thought to also have material basis in the SNAI2 gene but that gene likely does not contribute to this disease (see PMID:32975012). synonym: "cutaneous albinism" EXACT [] synonym: "partial albinism" EXACT [] synonym: "PBT" EXACT [] synonym: "PIEBALDISM, PROGRESSIVE" NARROW [] synonym: "PIEBALDISM WITH SENSORINEURAL DEAFNESS" NARROW [] synonym: "piebald trait" EXACT [] xref: GARD:4344 xref: ICD10CM:E70.39 xref: MESH:D016116 xref: NCI:C85009 xref: ORDO:2884 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9001386 ! Albinism [Term] id: DOID:3264 name: subacute leukemia def: "A leukemia that is in between acute and chronic leukemia and is characterized by a moderate duration or severity. (DO)" [http://www.wrongdiagnosis.com/medical/subacute.htm "DO"] xref: ICD9CM:208.2 is_a: DOID:1240 ! leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:3265 name: chronic granulomatous disease def: "A phagocyte bactericidal dysfunction characterized by an inability to resist repeated infectious diseases and a tendency to develop chronic inflammation. Life-threatening recurrent fungal and bacterial infections affecting the skin, lungs, liver, lymph nodes, and bones may occur along with swollen areas of inflamed tissues known as granulomas that can be widely distributed. (DO)" [http://en.wikipedia.org/wiki/Chronic_granulomatous_disease "DO", https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/ "DO", https://rarediseases.org/rare-diseases/chronic-granulomatous-disease/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK99496/ "DO"] synonym: "autosomal recessive chronic granulomatous disease" EXACT [] synonym: "Bridges-Good syndrome" EXACT [] synonym: "CGD" EXACT [] synonym: "chronic granulomatous diseases" EXACT [] synonym: "congenital dysphagocytosis" EXACT [] synonym: "Quie syndrome" EXACT [] xref: EFO:0000338 xref: GARD:6100 xref: ICD10CM:D71 xref: MESH:D006105 xref: MIM:PS306400 xref: MONDO:0018305 xref: NCI:C26788 xref: ORDO:379 is_a: DOID:3262 ! phagocyte bactericidal dysfunction [Term] id: DOID:3267 name: mucinous ovarian cystadenoma def: "An ovarian cystadenoma that is characterized by the presence of mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22476372 "DO"] synonym: "mucinous cystadenoma of ovary" EXACT [SNOMEDCT_2005_07_31:119422004] xref: NCI:C4512 is_a: DOID:3269 ! ovarian cystadenoma [Term] id: DOID:3269 name: ovarian cystadenoma def: "An ovarian benign neoplasm that has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27244785 "DO"] synonym: "cystoma serosum simplex" EXACT [] synonym: "EFO:0002511" EXACT [] synonym: "simple cystoma of ovary" EXACT [] synonym: "simple cystoma of the ovary" EXACT [] xref: EFO:0002511 xref: NCI:C4060 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:9002755 ! Benign Ovarian Mucinous Tumor [Term] id: DOID:327 name: syringomyelia def: "Longitudinal cavities in the spinal cord, most often in the cervical region, which may extend for multiple spinal levels. The cavities are lined by dense, gliogenous tissue and may be associated with SPINAL CORD NEOPLASMS; spinal cord traumatic injuries; and vascular malformations. Syringomyelia is marked clinically by pain and PARESTHESIA, muscular atrophy of the hands, and analgesia with thermoanesthesia of the hands and arms, but with the tactile sense preserved (sensory dissociation). Lower extremity spasticity and incontinence may also develop. (From Adams et al., Principles of Neurology, 6th ed, p1269)" [MESH:D013595] synonym: "Hydrosyringomyelia" EXACT [] synonym: "hydrosyringomyelias" EXACT [] synonym: "Morvan's Disease" EXACT [] synonym: "Morvan's Diseases" EXACT [] synonym: "Morvan Disease" EXACT [] synonym: "Morvan Diseases" EXACT [] synonym: "Morvans Disease" EXACT [] synonym: "Myelosyringoses" EXACT [] synonym: "Myelosyringosis" EXACT [] synonym: "Syringomyelias" EXACT [] synonym: "syringomyelus" EXACT [] xref: GARD:7725 xref: MESH:D013595 xref: NCI:C85179 xref: ORDO:3280 is_a: DOID:319 ! spinal cord disease [Term] id: DOID:3274 name: proliferative type fibrocystic change of breast def: "A breast fibrocystic disease that is characterized by the presence of epithelial cell hyperplasia and the absence of epithelial atypia. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34967547/ "DO"] synonym: "fibrocystic change, proliferative type with atypia" EXACT [] synonym: "Fibrocystic disease, Proliferative type with Atypia" EXACT [] synonym: "Proliferating Lesion of breast without Atypia" EXACT [] synonym: "proliferating lesion of the breast without atypia" EXACT [] synonym: "proliferative fibrocystic change" EXACT [] xref: NCI:C8365 is_a: DOID:10354 ! breast fibrocystic disease [Term] id: DOID:3275 name: thymoma def: "A thymus cancer that derives_from epithelial cells located_in the thymus. The tumor cells in a thymoma look similar to the normal cells of the thymus, grow slowly, and rarely spread beyond the thymus. (DO)" [http://cancergenome.nih.gov/cancersselected/Thymoma "DO", http://en.wikipedia.org/wiki/Thymoma "DO", http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 "DO"] synonym: "EFO:1000581" EXACT [] synonym: "thymomas" EXACT [] xref: EFO:1000581 xref: ICDO:8580/3 xref: MESH:D013945 xref: NCI:C198577 xref: NCI:C3411 is_a: DOID:3277 ! thymus cancer is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:3277 name: thymus cancer def: "An immune system cancer located_in the thymus. (DO)" [http://en.wikipedia.org/wiki/Thymus "DO"] synonym: "cancer of the thymus" EXACT [] synonym: "cancer of thymus" EXACT [] synonym: "thymic cancer" EXACT [] synonym: "thymic cancers" EXACT [] synonym: "thymus cancers" EXACT [] xref: ICD10CM:C37 xref: ICD9CM:164.0 xref: MONDO:0002586 xref: NCI:C4962 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:170 ! endocrine gland cancer is_a: DOID:5093 ! thoracic cancer is_a: DOID:9005161 ! Thymus Neoplasms created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:3278 name: encapsulated thymoma xref: NCI:C7386 is_a: DOID:3275 ! thymoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3279 name: spindle cell thymoma synonym: "medullary thymoma" EXACT [] xref: NCI:C6454 is_a: DOID:3275 ! thymoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3280 name: mixed type thymoma synonym: "EFO:1000582" EXACT [] synonym: "type AB thymoma" EXACT [] xref: EFO:1000582 xref: NCI:C6885 is_a: DOID:3275 ! thymoma [Term] id: DOID:3281 name: combined thymoma is_a: DOID:3275 ! thymoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3282 name: thymoma type B def: "A thymoma that is an epithelial neoplasm arising from the thymus. It may be associated with myasthenia gravis, pure red cell aplasia, and hypogammaglobulinemia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/ "DO"] synonym: "dendritic cell thymoma" EXACT [] synonym: "epithelioid thymoma" EXACT [] xref: NCI:C7114 xref: ORDO:263317 is_a: DOID:3275 ! thymoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3283 name: invasive malignant thymoma synonym: "infiltrating thymoma" EXACT [] xref: NCI:C6453 xref: NCI:C7904 is_a: DOID:3275 ! thymoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3284 name: thymic carcinoma def: "A thymus cancer that derives_from epithelial cells. The tumor cells in a thymic carcinoma look very different from the normal cells of the thymus, grow more quickly, and have usually spread to other parts of the body when the cancer is found. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/thymoma/patient/page1 "DO"] synonym: "EFO:1000576" EXACT [] synonym: "malignant thymoma" EXACT [] synonym: "Thymic Undifferentiated Carcinoma" NARROW [] xref: EFO:1000576 xref: EFO:1000580 xref: ICDO:8586/3 xref: NCI:C60470 xref: NCI:C7612 xref: ORDO:99868 is_a: DOID:305 ! carcinoma is_a: DOID:3277 ! thymus cancer [Term] id: DOID:3292 name: mpox def: "A viral infectious disease that results in infection of primates, rodents and humans, located in skin, has_material_basis_in Monkeypox virus, which is transmitted by contact with the animal's blood, body fluids, rash, or with the body fluids of a sick person, transmitted by fomites, and transmitted by respiratory droplets. The infection has symptom fever, has symptom muscle ache, has symptom headache, and has symptom lymphadenopathy. (DO)" [http://www.cdc.gov/ncidod/monkeypox/factsheet2.htm "DO", https://www.who.int/news/item/28-11-2022-who-recommends-new-name-for-monkeypox-disease "DO"] comment: November 2022 WHO name update. synonym: "monkey pox" EXACT [] synonym: "monkeypox" EXACT [] xref: GARD:10722 xref: ICD10CM:B04 xref: ICD9CM:059.01 xref: MESH:D045908 xref: NCI:C128421 is_a: DOID:8729 ! milker's nodule is_a: DOID:9001374 ! Primate Diseases is_a: DOID:9004990 ! Rodent Diseases [Term] id: DOID:3298 name: vaccinia def: "A viral infectious disease that results_in infection, located_in skin, has_material_basis_in Vaccinia virus, which is used as a live vaccine against smallpox. The virus is transmitted_by contact with the vaccination site before it has healed, or transmitted_by fomites that have been contaminated with live virus from the vaccination site. The infection has_symptom rash, has_symptom fever, and has_symptom body aches. (DO)" [http://en.wikipedia.org/wiki/Vaccinia "DO", https://www.cdc.gov/smallpox/clinicians/vaccines.html "DO"] synonym: "vaccinia infection" EXACT [] synonym: "vaccinia infections" EXACT [] synonym: "Vaccinias" EXACT [] synonym: "vaccinia virus infection" EXACT [] synonym: "vaccinia virus infections" EXACT [] xref: MESH:D014615 is_a: DOID:8729 ! milker's nodule [Term] id: DOID:3301 name: gonadoblastoma alt_id: MIM:424500 def: "A cell type benign neoplasm that is composed_of a mixture of gonadal elements, such as large primordial germ cells, immature Sertoli cells or granulosa cells of the sex cord, and gonadal stromal cells (which comprises the granulosa, theca, and fibrocyte cells). (DO)" [http://en.wikipedia.org/wiki/Gonadoblastoma "DO"] synonym: "gonadoblastomas" EXACT [] xref: ICDO:9073/1 xref: MESH:D018238 xref: NCI:C3754 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:0070003 ! blastoma is_a: DOID:14448 ! 46,XY sex reversal is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms is_a: DOID:9005959 ! Gonadal Tissue Neoplasms [Term] id: DOID:3302 name: chordoma alt_id: MIM:215400 def: "A notochordal cancer that derives_from cellular remnants of the notochord. (DO)" [http://en.wikipedia.org/wiki/Chordoma "DO"] synonym: "CHDM" EXACT [] synonym: "chordomas" EXACT [] synonym: "chordoma, susceptibility to" RELATED [] synonym: "notochordoma" EXACT [] xref: EFO:0000334 xref: GARD:1303 xref: MESH:D002817 xref: MONDO:0008978 xref: NCI:C2947 xref: ORDO:178 is_a: DOID:3303 ! notochordal cancer is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms [Term] id: DOID:3303 name: notochordal cancer def: "An embryonal cancer and bone cancer and mesenchymal cell neoplasm that is located_in the notochord. (DO)" [http://en.wikipedia.org/wiki/Notochord "DO"] synonym: "notochordal tumor" RELATED [] xref: NCI:C7063 is_a: DOID:184 ! bone cancer [Term] id: DOID:3304 name: germinoma def: "A germ cell cancer that lacks histologic differentiation. It usually refers to a tumor in the brain. (DO)" [http://en.wikipedia.org/wiki/Germinoma "DO", https://en.wikipedia.org/wiki/Germinoma "DO"] synonym: "germinomas" EXACT [] xref: ICDO:9064/3 xref: MESH:D018237 xref: NCI:C3753 is_a: DOID:1319 ! brain cancer is_a: DOID:2994 ! germ cell cancer [Term] id: DOID:3305 name: teratocarcinoma def: "A mixed germ cell tumor that is a mixture of teratoma with embryonal carcinoma, or with choriocarcinoma, or with both. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed "DO"] synonym: "mixed embryonal carcinoma and teratoma" EXACT [] synonym: "teratocarcinomas" EXACT [] xref: ICDO:9081/3 xref: MESH:D018243 xref: NCI:C129859 xref: NCI:C3756 is_a: DOID:154 ! mixed cell type cancer is_a: DOID:3095 ! germ cell and embryonal cancer is_a: DOID:3306 ! mixed germ cell cancer [Term] id: DOID:3306 name: mixed germ cell cancer def: "A germ cell cancer that occurs in many forms. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor#Mixed "DO"] synonym: "mixed germ cell neoplasm" EXACT [] synonym: "mixed germ cell tumor" EXACT [] synonym: "mixed germ cell tumour" EXACT [] synonym: "mixed teratoma and Seminoma" EXACT [] xref: ICDO:9085/3 xref: NCI:C4290 xref: NCI:C9010 is_a: DOID:2994 ! germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:3307 name: teratoma def: "A germ cell and embryonal cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. (DO)" [http://en.wikipedia.org/wiki/Teratoma "DO"] synonym: "dysembryoma" EXACT [] synonym: "dysembryomas" EXACT [] synonym: "teratoid tumor" EXACT [] synonym: "teratoid tumors" EXACT [] synonym: "teratomas" EXACT [] xref: ICDO:9080/3 xref: MESH:D013724 xref: NCI:C3403 is_a: DOID:3095 ! germ cell and embryonal cancer [Term] id: DOID:3308 name: embryonal carcinoma def: "An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma "DO"] synonym: "EFO:0004986" EXACT [] synonym: "embryonal carcinomas" EXACT [] synonym: "primary extragonadal embryonal carcinoma" EXACT [] xref: EFO:0004986 xref: GARD:5140 xref: ICDO:9070/3 xref: MESH:D018236 xref: NCI:C3752 xref: NCI:C8880 is_a: DOID:305 ! carcinoma is_a: DOID:688 ! embryonal cancer [Term] id: DOID:3309 name: neurodermatitis def: "A dermatitis that is characterized by chronic itching or scaling. (DO)" [https://www.mayoclinic.org/diseases-conditions/neurodermatitis/symptoms-causes/syc-20375634 "DO"] synonym: "circumscribed neurodermatitides" EXACT [] synonym: "Circumscribed Neurodermatitis" EXACT [] synonym: "Lichen Simplex Chronicus" EXACT [] synonym: "Localized Neurodermatitides" EXACT [] synonym: "Localized Neurodermatitis" EXACT [] synonym: "neurodermatitides" EXACT [] xref: EFO:1000740 xref: MESH:D009450 xref: NCI:C111963 is_a: DOID:2723 ! dermatitis is_a: DOID:9004383 ! Eczematous Skin Diseases [Term] id: DOID:331 name: central nervous system disease def: "A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous system. (DO)" [http://en.wikipedia.org/wiki/Central_nervous_system_disease "DO"] synonym: "central nervous system diseases" EXACT [] synonym: "Central Nervous System Disorders" EXACT [] synonym: "CNS Disease" EXACT [] synonym: "CNS Diseases" EXACT [] synonym: "CNS DISORDER" EXACT [] xref: EFO:0009386 xref: ICD10CM:G96.9 xref: MESH:D002493 xref: NCI:C2934 is_a: DOID:863 ! nervous system disease [Term] id: DOID:3310 name: atopic dermatitis def: "An allergic contact dermatitis that is a chronically relapsing inflammatory allergic response located_in the skin that causes itching and flaking. (DO)" [http://en.wikipedia.org/wiki/Atopic_dermatitis "DO"] synonym: "allergic dermatitis" EXACT [] synonym: "ATOD" EXACT [] synonym: "atopic dermatitides" EXACT [] synonym: "atopic eczema" EXACT [] synonym: "atopic neurodermatitides" EXACT [] synonym: "atopic neurodermatitis" EXACT [] synonym: "Besnier's prurigo" EXACT [] synonym: "disseminated neurodermatitides" EXACT [] synonym: "disseminated neurodermatitis" EXACT [] synonym: "infantile eczema" NARROW [] synonym: "recalcitrant atopic dermatitis" NARROW [] xref: EFO:0000274 xref: ICD10CM:L20 xref: MESH:D003876 xref: MIM:PS603165 is_a: DOID:3042 ! allergic contact dermatitis is_a: DOID:9002850 ! Immediate Hypersensitivity is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:3312 name: bipolar disorder def: "A mood disorder that involves alternating periods of mania and depression. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"] synonym: "bipolar affective disorder" EXACT [] synonym: "BIPOLAR AFFECTIVE DISORDER, SUSCEPTIBILITY TO" RELATED [] synonym: "bipolar affective psychoses" EXACT [] synonym: "bipolar affective psychosis" EXACT [] synonym: "bipolar and related disorders" EXACT [] synonym: "bipolar depression" EXACT [] synonym: "bipolar disorder manic phase" EXACT [] synonym: "bipolar disorders" EXACT [] synonym: "BPAD" EXACT [] synonym: "depressive-manic psych." EXACT [] synonym: "Mania" EXACT [] synonym: "manias" EXACT [] synonym: "manic bipolar affective disorder" EXACT [] synonym: "manic bipolar I disorder" EXACT [] synonym: "manic depression" EXACT [] synonym: "manic depressive disorder" EXACT [] synonym: "manic-depressive psychoses" EXACT [] synonym: "manic depressive psychosis" EXACT [] synonym: "manic disorder" EXACT [] synonym: "manic disorders" EXACT [] synonym: "manic state" EXACT [] synonym: "manic states" EXACT [] synonym: "mixed bipolar disorder" EXACT [] xref: EFO:0000289 xref: GARD:10249 xref: ICD10CM:F31 xref: ICD9CM:296.40 xref: ICD9CM:296.60 xref: ICD9CM:296.80 xref: MESH:D000068105 xref: MESH:D001714 xref: MONDO:0004985 xref: NCI:C34423 xref: NCI:C34424 xref: NCI:C34805 is_a: DOID:3324 ! mood disorder [Term] id: DOID:3314 name: angiomyolipoma def: "A cell type benign neoplasm that is primarily located in the kidneys but may be found in the lungs, liver or other organs and is derived from perivascular epithelioid cells. (DO)" [http://en.wikipedia.org/wiki/Angiomyolipoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/9503504 "DO"] synonym: "angiomyolipomas" EXACT [] xref: ICDO:8860/0 xref: MESH:D018207 xref: NCI:C3734 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:2643 ! perivascular epithelioid cell tumor is_a: DOID:9008378 ! Adipose Tissue Neoplasms [Term] id: DOID:3315 name: lipoma def: "A cell type benign neoplasm that is composed of lipocytes. (DO)" [http://en.wikipedia.org/wiki/Benign_tumor "DO"] synonym: "Atypical Lipoma" EXACT [] synonym: "atypical lipomas" EXACT [] synonym: "benign lipomatous tumor" EXACT [] synonym: "benign tumor of adipose tissue" EXACT [] synonym: "EFO:0000759" EXACT [] synonym: "Fatty Tumor" EXACT [] synonym: "Fatty Tumors" EXACT [] synonym: "Hibernoma" EXACT [] synonym: "Hibernomas" EXACT [] synonym: "Lipomas" EXACT [] synonym: "Lipoma, somatic" NARROW [] synonym: "lipomata" EXACT [] synonym: "lipomatas" EXACT [] synonym: "LIPOMATOSIS, FAMILIAL MULTIPLE" EXACT [] synonym: "lipomatous neoplasm" EXACT [] synonym: "lipomatous tumor" EXACT [] synonym: "tumor of adipose tissue" EXACT [] xref: EFO:0000759 xref: ICD10CM:D17 xref: ICD10CM:D17.9 xref: ICD9CM:214 xref: ICDO:8850/0 xref: MESH:D008067 xref: NCI:C21634 xref: NCI:C3192 xref: NCI:C3702 xref: NCI:C4248 xref: NCI:C4502 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:9008378 ! Adipose Tissue Neoplasms [Term] id: DOID:3316 name: perivascular tumor synonym: "malignant perivascular cancer" EXACT [] xref: NCI:C6528 xref: NCI:C6530 is_a: DOID:175 ! vascular cancer is_a: DOID:201 ! connective tissue cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:3317 name: hepatic angiomyolipoma xref: NCI:C27485 is_a: DOID:3314 ! angiomyolipoma is_a: DOID:916 ! liver benign neoplasm created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:3318 name: epithelioid type angiomyolipoma synonym: "epithelioid angiomyolipoma" EXACT [] xref: NCI:C38151 is_a: DOID:3314 ! angiomyolipoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3319 name: lymphangioleiomyomatosis alt_id: MIM:606690 def: "A lung disease that is characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31610670/ "DO"] synonym: "EFO:1000334" EXACT [] synonym: "LAM" EXACT [] synonym: "lung lymphangioleiomyomatosis" EXACT [] synonym: "lymphangioleiomyomatoses" EXACT [] synonym: "lymphangiomyomatoses" EXACT [] synonym: "lymphangiomyomatosis" EXACT [] synonym: "pulmonary lymphangioleiomyomatosis" EXACT [] synonym: "somatic lymphangioleiomyomatosis" NARROW [] xref: EFO:1000334 xref: GARD:3319 xref: ICDO:9174/1 xref: MESH:D018192 xref: MONDO:0011705 xref: NCI:C3725 xref: NCI:C38153 xref: ORDO:538 is_a: DOID:2643 ! perivascular epithelioid cell tumor is_a: DOID:850 ! lung disease is_a: DOID:9007091 ! Lymphangiomyoma [Term] id: DOID:332 name: amyotrophic lateral sclerosis def: "A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing. (DO)" [http://en.wikipedia.org/wiki/Amyotrophic_lateral_sclerosis "DO", http://www.ninds.nih.gov/disorders/amyotrophiclateralsclerosis/detail_ALS.htm "DO"] synonym: "ALS" EXACT [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS/FRONTOTEMPORAL DEMENTIA" NARROW [] synonym: "Amyotrophic Lateral Sclerosis In Males, Susceptibility To" RELATED [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM/DEMENTIA COMPLEX 1, SUSCEPTIBILITY TO" RELATED [] synonym: "Amyotrophic Lateral Sclerosis, Susceptibility To" RELATED [] synonym: "AMYOTROPHIC LATERAL SCLEROSIS, TYPICAL" EXACT [] synonym: "amyotrophic lateral sclerosis with dementia" NARROW [] synonym: "bulbar motor neuron disease" EXACT [] synonym: "Charcot disease" EXACT [] synonym: "familial amyotrophic lateral sclerosis" NARROW [] synonym: "Gehrig's Disease" EXACT [] synonym: "Gehrig Disease" EXACT [] synonym: "Gehrigs Disease" EXACT [] synonym: "Lou Gehrig's disease" EXACT [] synonym: "Lou Gehrig disease" EXACT [] synonym: "Lou-Gehrigs disease" EXACT [] synonym: "motor neuron disease, amyotrophic lateral sclerosis" EXACT [] xref: EFO:0000253 xref: EFO:0001356 xref: EFO:0001357 xref: GARD:5786 xref: ICD10CM:G12.21 xref: ICD9CM:335.20 xref: MESH:D000690 xref: MIM:PS105400 xref: MONDO:0004976 xref: NCI:C34373 xref: ORDO:803 is_a: DOID:319 ! spinal cord disease is_a: DOID:9001897 ! MOTOR NEURON ATROPHY is_a: DOID:9004479 ! TDP-43 Proteinopathies [Term] id: DOID:3320 name: Tay-Sachs disease alt_id: MIM:272800 alt_id: OMIA:001461 def: "A GM2 gangliosidosis that is characterized onset in infancy of developmental retardation, followed by paralysis, dementia and blindness, with death in the second or third year of life and has_material_basis_in homozygous or compound heterozygous mutation in the alpha subunit of the hexosaminidase A gene (HEXA) on chromosome 15q23. (DO)" [https://medlineplus.gov/genetics/condition/tay-sachs-disease/ "DO", https://www.genome.gov/Genetic-Disorders/Tay-Sachs-Disease "DO", https://www.ncbi.nlm.nih.gov/books/NBK1218/ "DO"] synonym: "amaurotic familial idiocy" EXACT [] synonym: "B Variant GM2 Gangliosidosis" EXACT [] synonym: "Deficiency Disease Hexosaminidase A" EXACT [] synonym: "Gangliosidosis G(M2), Type I" EXACT [] synonym: "Gangliosidosis, GM2, type I (B variant)" EXACT [] synonym: "GM2-GANGLIOSIDE ACCUMULATION" EXACT [] synonym: "GM2-gangliosidoses, variant B" EXACT [] synonym: "Gm2-Gangliosidosis, Chronic" EXACT [] synonym: "Gm2-Gangliosidosis, Juvenile" EXACT [] synonym: "GM2 Gangliosidosis, Type 1" EXACT [] synonym: "GM2-gangliosidosis type I" EXACT [] synonym: "GM2-GANGLIOSIDOSIS, VARIANT B1" NARROW [] synonym: "HexA Deficiency" EXACT [] synonym: "HEXA DEFICIENCY TAY-SACHS DISEASE, JUVENILE" NARROW [] synonym: "Hexa, dn Allele" RELATED [] synonym: "Hexosaminidase A Deficiency" EXACT [] synonym: "HEXOSAMINIDASE A DEFICIENCY, ADULT TYPE" NARROW [] synonym: "Hexosaminidase alpha Subunit Deficiency (Variant B)" EXACT [] synonym: "pseudodeficiency of beta-hexosaminidase A" EXACT [] synonym: "Tay-Sachs disease, juvenile/adult" NARROW [] synonym: "Tay-Sachs disease, pseudo-AB variant" NARROW [] synonym: "Tay-Sachs disease, variant B" NARROW [] synonym: "Tay-Sachs disease, variant B1" NARROW [] synonym: "Tay-Sachs sphingolipidosis" EXACT [] synonym: "TSD" EXACT [] xref: GARD:7737 xref: ICD10CM:E75.02 xref: MESH:D013661 xref: NCI:C85184 is_a: DOID:3321 ! GM2 gangliosidosis [Term] id: DOID:3321 name: GM2 gangliosidosis def: "A gangliosidosis that is characterized by excessive accumulation of ganglioside GM2 and related glycolipids in the lysosomes. (DO)" [https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant "DO"] synonym: "G(M2) Gangliosidoses" EXACT [] synonym: "GM2 gangliosidose" EXACT [] synonym: "GM2 gangliosidoses" EXACT [] synonym: "GM2-GANGLIOSIDOSIS, LATE ONSET" NARROW [] synonym: "GM>2< gangliosidosis" EXACT [] xref: ICD10CM:E75.0 xref: MESH:D020143 is_a: DOID:2368 ! gangliosidosis [Term] id: DOID:3322 name: GM1 gangliosidosis alt_id: OMIA:000402 def: "A gangliosidosis that is characterized by progressive destruction of nerve cells in the brain and spinal cord and that has_material_basis_in mutations in the gene encoding beta-galactosidase-1 (GLB1) resulting in build up of GM1 ganglioside. (DO)" [https://ghr.nlm.nih.gov/condition/gm1-gangliosidosis "DO"] synonym: "Beta-Galactosidase-1 (GLB1) Deficiency" EXACT [] synonym: "beta galactosidase 1 deficiency" EXACT [] synonym: "Beta Galactosidase 1 Deficiency Disease" EXACT [] synonym: "beta Galactosidase Deficiency" EXACT [] synonym: "Beta Galactosidosis" EXACT [] synonym: "Deficiencies, GLB1" EXACT [] synonym: "deficiency of beta-galactosidase" EXACT [] synonym: "Gangliosidosis G(M1)" EXACT [] synonym: "Generalized Gangliosidosis" EXACT [] synonym: "GLB1 deficiency" EXACT [] synonym: "GM>1< gangliosidosis" EXACT [] synonym: "Landing syndrome" EXACT [] xref: GARD:10891 xref: ICD10CM:E75.19 xref: MESH:D016537 xref: NCI:C129034 xref: NCI:C84739 is_a: DOID:2368 ! gangliosidosis [Term] id: DOID:3323 name: Sandhoff disease alt_id: MIM:268800 alt_id: OMIA:001462 def: "A GM2 gangliosidosis that is characterized by an accumulation of GM2 gangliosides, particularly in neurons, and that has_material_basis_in mutation in the beta subunit of hexosaminidase (HEXB) on chromosome 5q13. (DO)" [https://ghr.nlm.nih.gov/condition/sandhoff-disease "DO"] synonym: "adult Sandhoff disease" EXACT [] synonym: "beta-hexosaminidase-beta-subunit deficiencies" EXACT [] synonym: "beta Hexosaminidase beta Subunit Deficiency" EXACT [] synonym: "gangliosidosis G(M2), type II" EXACT [] synonym: "Gangliosidosis, GM2, type II (Sandhoff or variant 0)" EXACT [] synonym: "GM2 Gangliosidosis, Type 2" EXACT [] synonym: "Hexosaminidase A and B Deficiency Disease" EXACT [] synonym: "HEXOSAMINIDASE B (PARIS)" RELATED [] synonym: "Hexosaminidases A And B Deficiency" EXACT [] synonym: "Juvenile Sandhoff Disease" EXACT [] synonym: "Sandhoff's Disease" EXACT [] synonym: "Sandhoff Disease, Chronic" EXACT [] synonym: "Sandhoff Jatzkewitz disease" EXACT [] synonym: "Sandhoff Jatzkewitz Pilz Disease" EXACT [] synonym: "Sandhoffs Disease" EXACT [] synonym: "Total Hexosaminidase Deficiencies" EXACT [] synonym: "total hexosaminidase deficiency" EXACT [] synonym: "type II GM2-gangliosidoses" EXACT [] synonym: "type II GM2-gangliosidosis" EXACT [] xref: GARD:7604 xref: ICD10CM:E75.01 xref: MESH:D012497 xref: NCI:C85052 xref: ORDO:796 is_a: DOID:3321 ! GM2 gangliosidosis [Term] id: DOID:3324 name: mood disorder def: "A cognitive disorder that involves a disturbance in mood as the predominant underlying feature. (DO)" [https://en.wikipedia.org/wiki/Mood_disorder "DO"] synonym: "affective disorder" EXACT [] synonym: "affective disorders" EXACT [] synonym: "episodic mood disorder" EXACT [] synonym: "mood disorders" EXACT [] xref: EFO:0004247 xref: ICD10CM:F39 xref: MESH:D019964 xref: NCI:C92200 is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:3325 name: hyperglobulinemic purpura def: "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years." [MESH:D011694] synonym: "Benign Hyperglobulinemic Purpura of Waldenström" EXACT [] synonym: "Hypergammaglobulinemic Purpura of Waldenstrom" EXACT [] synonym: "Hyperglobulinemic Purpura of Waldenström" EXACT [] synonym: "hyperglobulinemic purpuras" EXACT [] synonym: "Waldenstrom Hypergammaglobulinemic Purpura" EXACT [] synonym: "Waldenstrom hyperglobulinemic purpura" EXACT [] synonym: "Waldenström Hyperglobulinemic Purpura" EXACT [] xref: EFO:1000972 xref: MESH:D011694 is_a: DOID:3326 ! purpura is_a: DOID:484 ! vascular hemostatic disease [Term] id: DOID:3326 name: purpura def: "Purplish or brownish red discoloration, easily visible through the epidermis, caused by hemorrhage into the tissues. When the size of the discolorization is >2-3 cm it is generally called Ecchymoses (ECCHYMOSIS)." [MESH:D011693] synonym: "petechiae" EXACT [] synonym: "purpuras" EXACT [] synonym: "purpuric disorder" EXACT [] xref: ICD10CM:D69.2 xref: MESH:D011693 xref: NCI:C78787 is_a: DOID:1247 ! blood coagulation disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:9007472 ! Skin Manifestations is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:3327 name: partial motor epilepsy alt_id: RDO:0007447 def: "A disorder characterized by recurrent localized paroxysmal discharges of cerebral neurons that give rise to seizures that have motor manifestations. The majority of partial motor seizures originate in the FRONTAL LOBE (see also EPILEPSY, FRONTAL LOBE). Motor seizures may manifest as tonic or clonic movements involving the face, one limb or one side of the body. A variety of more complex patterns of movement, including abnormal posturing of extremities, may also occur." [MESH:D020938] synonym: "focal clonic seizure" EXACT [] synonym: "Focal Clonic Seizures" EXACT [] synonym: "Focal Motor Epilepsy" EXACT [] synonym: "focal motor seizure" EXACT [] synonym: "Focal Tonic Seizure" EXACT [] synonym: "Focal Tonic Seizures" EXACT [] synonym: "Hemimotor Epilepsies" EXACT [] synonym: "Hemimotor Epilepsy" EXACT [] synonym: "Hemimotor Seizure Disorder" EXACT [] synonym: "Hemimotor Seizure Disorders" EXACT [] synonym: "Motor Partial Seizure Disorder" EXACT [] synonym: "Motor Seizure Disorder" EXACT [] synonym: "Motor Seizure Disorders" EXACT [] synonym: "Versive Seizure" EXACT [] synonym: "versive seizures" EXACT [] xref: EFO:1001089 xref: MESH:D020938 xref: NCI:C50847 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:3328 name: temporal lobe epilepsy def: "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes. (DO)" [https://en.wikipedia.org/wiki/Temporal_lobe_epilepsy "DO", MESH:D004833] synonym: "childhood benign psychomotor epilepsy" EXACT [] synonym: "lateral temporal epilepsies" EXACT [] synonym: "lateral temporal epilepsy" EXACT [] synonym: "temporal lobe epilepsies" EXACT [] synonym: "TLE" EXACT [] synonym: "uncinate epilepsies" EXACT [] synonym: "uncinate epilepsy" EXACT [] xref: EFO:0000773 xref: MESH:D004833 xref: MIM:PS600512 xref: NCI:C177244 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:3329 name: benign epilepsy with centrotemporal spikes alt_id: MIM:117100 def: "A childhood electroclinical syndrome characterized by partial seizures involving the rolandic area of the brain and electroencephalographic centrotemporal sharp waves. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19172991/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK534845/ "DO"] synonym: "BCECTS" EXACT [] synonym: "BECTS" EXACT [] synonym: "benign childhood epilepsy with centrotemporal spike" EXACT [] synonym: "Benign Childhood Epilepsy With Centro Temporal Spikes" EXACT [] synonym: "Benign Epilepsy Of Childhood With Centrotemporal Spikes" EXACT [] synonym: "Benign Rolandic Epilepsy" EXACT [] synonym: "Benign Rolandic Epilepsy of Childhood" EXACT [] synonym: "centralopathic epilepsies" EXACT [] synonym: "Centralopathic Epilepsy" EXACT [] synonym: "Centrotemporal Epilepsies" EXACT [] synonym: "Centrotemporal Epilepsy" EXACT [] synonym: "ECT" EXACT [] synonym: "Rolandic Epilepsies" EXACT [] synonym: "Rolandic Epilepsy" EXACT [] synonym: "Rolands Epilepsy" EXACT [] synonym: "sylvan seizures" EXACT [] synonym: "Sylvian Epilepsy" EXACT [] synonym: "temporal-central focal epilepsy" EXACT [] xref: GARD:10287 xref: MESH:D019305 xref: ORDO:1945 is_a: DOID:0050704 ! childhood electroclinical syndrome is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:3330 name: partial sensory epilepsy def: "A disorder characterized by recurrent focal onset seizures which have sensory (i.e., olfactory, visual, tactile, gustatory, or auditory) manifestations. Partial seizures that feature alterations of consciousness are referred to as complex partial seizures (EPILEPSY, COMPLEX PARTIAL)." [MESH:D020937] synonym: "Focal Sensory Seizure" EXACT [] synonym: "Focal Sensory Seizures" EXACT [] synonym: "Gustatory Partial Seizure" EXACT [] synonym: "Gustatory Partial Seizures" EXACT [] synonym: "Olfactory Partial Seizure" EXACT [] synonym: "Olfactory Partial Seizures" EXACT [] synonym: "Partial Sensory Seizure" EXACT [] synonym: "Partial Sensory Seizures" EXACT [] synonym: "Sensory Epilepsy" EXACT [] synonym: "Sensory Focal Seizure Disorder" EXACT [] synonym: "Sensory Partial Seizure Disorder" EXACT [] synonym: "Sensory Seizure Disorder" EXACT [] synonym: "Sensory Seizure Disorders" EXACT [] synonym: "Simple Partial Seizures, Special Sensory Symptoms" EXACT [] synonym: "Vertiginous Partial Seizure" EXACT [] synonym: "Vertiginous Partial Seizures" EXACT [] synonym: "Visual Partial Seizure" EXACT [] synonym: "Visual Partial Seizures" EXACT [] xref: EFO:1001090 xref: MESH:D020937 xref: RDO:0007446 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:3331 name: frontal lobe epilepsy def: "A focal epilepsy that is characterized by recurring seizures that affect one hemisphere of the brain. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/epilepsy/focal-epilepsy "DO"] synonym: "anterior fronto-polar epilepsies" EXACT [] synonym: "Anterior Fronto-Polar Epilepsy" EXACT [] synonym: "Benign Frontal Childhood Epilepsy" EXACT [] synonym: "cingulate epilepsies" EXACT [] synonym: "Cingulate Epilepsy" EXACT [] synonym: "Frontal Lobe Epilepsies" EXACT [] synonym: "Opercular Epilepsies" EXACT [] synonym: "Opercular Epilepsy" EXACT [] synonym: "Orbito-Frontal Epilepsies" EXACT [] synonym: "Orbito-Frontal Epilepsy" EXACT [] synonym: "supplementary motor epilepsies" EXACT [] synonym: "supplementary motor epilepsy" EXACT [] xref: MESH:D017034 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:3332 name: haemonchiasis def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue. (DO)" [http://en.wikipedia.org/wiki/Haemonchus_contortus "DO"] synonym: "haemonchiases" EXACT [] xref: EFO:0007293 xref: MESH:D006188 is_a: DOID:1255 ! trichostrongyloidiasis [Term] id: DOID:334 name: histrionic personality disorder def: "A personality disorder that is characterized by a pattern of excessive emotionality and attention-seeking, including an excessive need for approval and inappropriately seductive behavior, usually beginning in early adulthood. (DO)" [http://en.wikipedia.org/wiki/Histrionic_personality_disorder "DO"] synonym: "histrionic personality disorders" EXACT [] synonym: "hysterical personalities" EXACT [] synonym: "Hysterical Personality" EXACT [] xref: ICD10CM:F60.4 xref: ICD9CM:301.5 xref: MESH:D006677 xref: NCI:C92634 is_a: DOID:1510 ! personality disorder [Term] id: DOID:3341 name: osteitis fibrosa def: "A bone resorption disease that has_material_basis_in hyperparathyroidism which results_in hyperactivity in osteoclasts, deformity, and loss of mass located_in bone. (DO)" [http://en.wikipedia.org/wiki/Osteitis_fibrosa_cystica "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001252.htm "DO"] synonym: "hyperparathyroid bone disease" EXACT [] synonym: "osteitis fibrosa cystica" EXACT [] synonym: "osteitis fibrosa cystica generalisata" EXACT [] synonym: "Recklinghausen's disease of bone" EXACT [] synonym: "Recklinghausen Disease, Bone" EXACT [] synonym: "Recklinghausen Disease of Bone" EXACT [] synonym: "Recklinghausens Disease, Bone" EXACT [] synonym: "von Recklinghausen's bone disease" EXACT [] xref: EFO:0007413 xref: MESH:D010002 xref: NCI:C34875 is_a: DOID:0080011 ! bone resorption disease is_a: DOID:9007819 ! Endocrine Bone Diseases [Term] id: DOID:3342 name: bone inflammation disease def: "A bone disease that results_in inflammation of the located_in bone. (DO)" [http://en.wikipedia.org/wiki/Osteitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Osteitis "DO"] synonym: "Bone Inflammation" EXACT [] synonym: "bone inflammatory disease" EXACT [] synonym: "inflammatory disorder of bone" EXACT [] synonym: "osteitis" EXACT [] xref: MESH:D010000 is_a: DOID:0080001 ! bone disease [Term] id: DOID:3343 name: glycoproteinosis def: "A mucolipidosis that is characterized by a deficiency of the enzyme alpha-N -acetyl neuraminidase (sialidase). (DO)" [http://en.wikipedia.org/wiki/Sialidosis "DO", https://en.wikipedia.org/wiki/Glycoproteinosis "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/302/viewAbstract "DO"] synonym: "cherry red spot myoclonus syndrome" EXACT [] synonym: "ganglioside sialidase deficiency disease" EXACT [] synonym: "glycoprotein neuraminidase deficiencies" EXACT [] synonym: "Glycoprotein Neuraminidase Deficiency" EXACT [] synonym: "Mucolipidosis Type III" EXACT [] synonym: "Pseudo Hurler Polydystrophy" EXACT [] synonym: "Psuedo Hurler Disease" EXACT [] synonym: "psuedo-Hurler diseases" EXACT [] synonym: "Sialidoses" EXACT [] synonym: "Sialidosis" EXACT [] synonym: "sialolipidoses" EXACT [] synonym: "sialolipidosis" EXACT [] synonym: "type III mucolipidoses" EXACT [] xref: GARD:10670 xref: NCI:C61267 is_a: DOID:0080488 ! mucolipidosis is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System [Term] id: DOID:3345 name: xanthomatosis alt_id: MIM:602247 def: "A lipid storage disease that is characterized by the desposition of yellowish cholesterol-rich material in tendons or other body parts. (DO)" [http://en.wikipedia.org/wiki/Xanthoma "DO"] synonym: "Xanthelasmas, periorbital" NARROW [] synonym: "xanthelasmatosis" EXACT [] synonym: "Xanthoma" EXACT [] synonym: "xanthomas" EXACT [] synonym: "xanthomatoses" EXACT [] xref: EFO:0003075 xref: MESH:D014973 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:3347 name: osteosarcoma alt_id: MIM:259500 def: "A bone sarcoma that is located_in bone that has_material_basis_in cells of mesenchymal origin. It usually involves bones and less frequently extraosseous sites. It often involves the long bones (particularly distal femur, proximal tibia, and proximal humerus). (DO)" [http://en.wikipedia.org/wiki/Osteosarcoma "DO", http://www.cancer.gov/dictionary?cdrid=45395 "DO"] synonym: "EFO:0000637" EXACT [] synonym: "OSRC" EXACT [] synonym: "OSTEOBLASTIC OSTEOSARCOMA" EXACT [] synonym: "osteogenic sarcoma" EXACT [] synonym: "osteogenic sarcomas" EXACT [] synonym: "osteoid sarcoma" EXACT [] synonym: "osteosarcomas" EXACT [] synonym: "osteosarcoma, somatic" NARROW [] synonym: "osteosarcoma tumor" EXACT [] synonym: "osteosarcoma tumors" EXACT [] synonym: "skeletal sarcoma" EXACT [] xref: EFO:0000637 xref: GARD:7284 xref: ICDO:9180/3 xref: MESH:D012516 xref: NCI:C120045 xref: NCI:C24021 xref: NCI:C60487 xref: NCI:C9145 xref: ORDO:668 is_a: DOID:0080639 ! bone sarcoma is_a: DOID:9007603 ! Bone Tissue Neoplasms [Term] id: DOID:3350 name: mesenchymal cell neoplasm def: "A cell type cancer that has_material_basis_in abnormally proliferating cells derives from embryonic connective tissue that is capable of developing into connective tissue, such as bone, and cartilage, the lymphatic system, and the circulatory system. (DO)" [http://en.wikipedia.org/wiki/Mesenchymal_cell "DO", http://www.ncbi.nlm.nih.gov/books/NBK9549/ "DO"] synonym: "benign miscellaneous mesenchymal tumor" EXACT [] synonym: "mesenchymal tumor" EXACT [] xref: NCI:C6587 xref: NCI:C7059 is_a: DOID:0050687 ! cell type cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:3351 name: bone angioendothelial sarcoma synonym: "osseous hemangiosarcoma" EXACT [] xref: NCI:C6479 is_a: DOID:0080639 ! bone sarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3352 name: malignant fibrous histiocytoma of bone def: "The most commonly diagnosed soft tissue sarcoma. It is a neoplasm with a fibrohistiocytic appearance found chiefly in later adult life, with peak incidence in the 7th decade." [] synonym: "malignant fibrous histiocytoma of the bone" EXACT [] xref: NCI:C8563 is_a: DOID:1907 ! malignant fibrous histiocytoma is_a: DOID:3347 ! osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3354 name: fibrosarcoma of bone def: "A bone sarcoma characterized by a herringbone or fascicular disposition of atypical, monomorphic fibroblasts and is always negative for any specific marker. (DO)" [https://link.springer.com/chapter/10.1007/978-1-4471-6578-1_29 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5732833/ "DO", https://www.orthobullets.com/pathology/8031/fibrosarcoma-of-bone "DO"] synonym: "fibrosarcoma of the bone" EXACT [] is_a: DOID:0080639 ! bone sarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3355 name: fibrosarcoma def: "A connective tissue cancer that has_material_basis_in fibrous connective tissue and characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. (DO)" [http://en.wikipedia.org/wiki/Fibrosarcoma "DO"] synonym: "EFO:0002087" EXACT [] synonym: "fibrocytic tumor" EXACT [] synonym: "fibrosarcoma of soft tissue" EXACT [] synonym: "fibrosarcomas" EXACT [] xref: EFO:0002087 xref: GARD:2327 xref: ICDO:8810/3 xref: MESH:D005354 xref: NCI:C24017 xref: NCI:C3043 xref: NCI:C60403 xref: NCI:C6605 xref: NCI:C7075 is_a: DOID:1115 ! sarcoma is_a: DOID:201 ! connective tissue cancer is_a: DOID:9008446 ! Fibrous Tissue Neoplasms [Term] id: DOID:3356 name: localized osteosarcoma def: "An osteosarcoma that is confined to a specific site without evidence of spread to other anatomic sites. (DO)" [https://www.cancer.org/cancer/types/osteosarcoma/detection-diagnosis-staging/staging.html "DO"] synonym: "localised osteogenic sarcoma" EXACT [] synonym: "localised osteosarcoma" EXACT [] synonym: "localized osteogenic sarcoma" EXACT [] xref: NCI:C7780 is_a: DOID:3347 ! osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3357 name: extraosseous osteosarcoma def: "An osteosarcoma arising from the soft tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4080674/ "DO"] synonym: "extraskeletal osteogenic sarcoma" EXACT [] synonym: "extraskeletal osteosarcoma" EXACT [] xref: NCI:C8810 is_a: DOID:3347 ! osteosarcoma [Term] id: DOID:3360 name: multifocal osteogenic sarcoma xref: NCI:C6470 is_a: DOID:0080639 ! bone sarcoma [Term] id: DOID:3361 name: childhood osteosarcoma synonym: "pediatric osteosarcoma" EXACT [] xref: NCI:C6585 is_a: DOID:3347 ! osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3362 name: coronary aneurysm def: "Abnormal balloon- or sac-like dilatation in the wall of CORONARY VESSELS. Most coronary aneurysms are due to CORONARY ATHEROSCLEROSIS, and the rest are due to inflammatory diseases, such as KAWASAKI DISEASE." [MESH:D003323] synonym: "Aneurysmal lesion of coronary artery" EXACT [] synonym: "aneurysm of coronary vessels" EXACT [] synonym: "arteriovenous aneurysm of coronary vessels" EXACT [] synonym: "Coronary Aneurysms" EXACT [] xref: EFO:1000881 xref: GARD:6200 xref: ICD10CM:I25.41 xref: ICD9CM:414.11 xref: MESH:D003323 xref: NCI:C168176 is_a: DOID:9000528 ! Coronary Disease is_a: DOID:9768 ! heart aneurysm [Term] id: DOID:3367 name: bone leiomyosarcoma xref: NCI:C7154 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:3347 ! osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3368 name: Ewing sarcoma of bone def: "A peripheral primitive neuroectodermal tumor that is located_in bone. (DO)" [http://en.wikipedia.org/wiki/Ewing%27s_sarcoma "DO"] synonym: "bone Ewing's sarcoma" EXACT [] synonym: "bone Ewing sarcoma" EXACT [] synonym: "bone localized Ewing's sarcoma" EXACT [] synonym: "bone localized Ewing sarcoma" EXACT [] synonym: "Ewing's sarcoma/bone peripheral primitive neuroectodermal tumor" EXACT [] synonym: "Ewing's sarcoma of bone" RELATED [] synonym: "localized skeletal Ewing's sarcoma" EXACT [] synonym: "skeletal Ewing's tumor" RELATED [] xref: NCI:C35871 xref: NCI:C4835 xref: NCI:C6623 is_a: DOID:184 ! bone cancer is_a: DOID:3369 ! Ewing sarcoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:3369 name: Ewing sarcoma alt_id: MIM:612219 def: "A connective tissue cancer that has_material_basis_in neural crest cells derives_from undeveloped, undifferentiated neuroectoderm. (DO)" [http://en.wikipedia.org/wiki/Primitive_neuroectodermal_tumor "DO", http://www.cancer.gov/dictionary?cdrid=383924 "DO"] synonym: "ASKIN TUMOR" NARROW [] synonym: "CD99 POSITIVE NEOPLASTIC CELLS PRESENT" RELATED [] synonym: "EFO:0000174" EXACT [] synonym: "ES" EXACT [] synonym: "Ewing's family localized tumor" EXACT [] synonym: "Ewing's Sarcoma" EXACT [] synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] synonym: "Ewing's Tumor" EXACT [] synonym: "Ewings Sarcoma" EXACT [] synonym: "Ewings sarcoma-primitive neuroectodermal tumor" EXACT [] synonym: "Ewings Tumor" EXACT [] synonym: "Ewing Tumor" EXACT [] synonym: "localized Ewing's sarcoma" NARROW [] synonym: "localized Ewing's sarcoma/peripheral primitive neuroectodermal tumor" NARROW [] synonym: "localized Ewing's tumor" NARROW [] synonym: "localized Ewing sarcoma" NARROW [] synonym: "localized peripheral primitive neuroectodermal tumor" NARROW [] synonym: "NEUROEPITHELIOMA, PERIPHERAL" NARROW [] synonym: "peripheral primitive neuroectodermal tumor" EXACT [] synonym: "PNE" NARROW [] synonym: "PNET of thoracopulmonary region" EXACT [] xref: EFO:0000173 xref: EFO:0000174 xref: GARD:6390 xref: ICDO:9364/3 xref: MESH:D012512 xref: NCI:C27901 xref: NCI:C27903 xref: NCI:C4817 xref: NCI:C7542 xref: NCI:C7806 xref: NCI:C9341 is_a: DOID:1115 ! sarcoma is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:337 name: spinal accessory nerve neoplasm synonym: "neoplasm of accessory nerve" EXACT [] synonym: "XIth cranial nerve tumors" EXACT [] xref: NCI:C5829 is_a: DOID:2815 ! cranial nerve malignant neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:3371 name: chondrosarcoma alt_id: MIM:215300 def: "A bone sarcoma that has_material_basis_in cells derived from transformed cells that produce cartilage. (DO)" [http://en.wikipedia.org/wiki/Chondrosarcoma "DO"] synonym: "Cartilaginous cancer" EXACT [] synonym: "chondrosarcoma of bone" EXACT [] synonym: "Chondrosarcomas" EXACT [] synonym: "chondrosarcoma, somatic" NARROW [] synonym: "chondrosarcoma, sporadic" NARROW [] synonym: "EFO:0000333" EXACT [] synonym: "primary chondrosarcoma of the bone" EXACT [] xref: EFO:0000333 xref: GARD:6004 xref: GARD:6055 xref: ICDO:9220/3 xref: MESH:D002813 xref: NCI:C24018 xref: NCI:C2946 xref: NCI:C60376 xref: NCI:C7155 is_a: DOID:0080639 ! bone sarcoma [Term] id: DOID:3372 name: chondroblastic osteosarcoma synonym: "chondrosarcomatous osteogenic sarcoma" EXACT [] xref: ICDO:9181/3 xref: NCI:C4021 is_a: DOID:3347 ! osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3373 name: parosteal osteosarcoma def: "A form of osteogenic sarcoma of relatively low malignancy, probably arising from the periosteum and initially involving cortical bone and adjacent connective tissue. It occurs in middle-aged as well as young adults and most commonly affects the lower part of the femoral shaft. (Stedman, 25th ed)" [] synonym: "EFO:1001000" EXACT [] synonym: "juxtacortical osteosarcoma" EXACT [] synonym: "juxtacortical osteosarcomas" EXACT [] synonym: "parosteal osteogenic sarcoma" EXACT [] xref: EFO:1001000 xref: ICDO:9192/3 xref: MESH:D018217 xref: MONDO:0006817 xref: NCI:C8969 is_a: DOID:3374 ! peripheral osteosarcoma [Term] id: DOID:3374 name: peripheral osteosarcoma alt_id: RDO:9003221 synonym: "High Grade Surface Osteosarcoma" NARROW [] synonym: "surface osteosarcoma" EXACT [] xref: EFO:1000296 xref: NCI:C7134 is_a: DOID:3376 ! bone osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3376 name: bone osteosarcoma alt_id: DOID:8580 def: "An osteosarcoma that is an usually aggressive malignant bone-forming mesenchymal neoplasm arising from the bone. It may arise de novo or from a pre-existing lesion of the bone. Pain and a palpable mass are the most frequent clinical sign and symptom. It may spread to other anatomic sites, particularly the lungs. (DO)" [https://my.clevelandclinic.org/health/diseases/15041-osteosarcoma "DO"] synonym: "osteosarcoma of bone" EXACT [] synonym: "primary osteosarcoma of bone" EXACT [] xref: NCI:C53707 is_a: DOID:3347 ! osteosarcoma [Term] id: DOID:3377 name: small cell osteogenic sarcoma synonym: "round cell osteosarcoma" EXACT [] synonym: "small cell osteosarcoma" EXACT [] xref: NCI:C4023 is_a: DOID:7602 ! conventional osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3379 name: metachronous osteosarcoma of the bone xref: NCI:C38157 xref: RDO:9003226 is_a: DOID:3347 ! osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3381 name: liposarcoma of bone synonym: "liposarcoma of the bone" EXACT [] xref: NCI:C7598 is_a: DOID:3347 ! osteosarcoma is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3382 name: liposarcoma alt_id: DOID:3939 def: "A connective tissue cancer that arises in fat cells in deep soft tissue retroperitoneum and the extremities. (DO)" [http://en.wikipedia.org/wiki/Liposarcoma "DO"] synonym: "EFO:0000569" EXACT [] synonym: "lipomatous cancer" EXACT [] synonym: "liposarcomas" EXACT [] synonym: "malignant lipomatous tumor" EXACT [] synonym: "malignant tumor of Adipose tissue" EXACT [] xref: EFO:0000569 xref: GARD:6913 xref: ICDO:8850/3 xref: MESH:D008080 xref: NCI:C3194 xref: NCI:C4501 xref: NCI:C60434 xref: ORDO:69078 is_a: DOID:1115 ! sarcoma is_a: DOID:201 ! connective tissue cancer is_a: DOID:9008378 ! Adipose Tissue Neoplasms [Term] id: DOID:3385 name: bacterial vaginosis def: "A vaginitis that is characterized by a grayish vaginal discharge usually of foul odor and the presence of Gardnerella vaginalis. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bacterial+vaginosis "DO"] synonym: "Bacterial Vaginitides" EXACT [] synonym: "Bacterial Vaginitis" EXACT [] synonym: "Bacterial Vaginoses" EXACT [] synonym: "Nonspecific Vaginitis" EXACT [] xref: EFO:0003932 xref: MESH:D016585 xref: NCI:C116973 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:2170 ! vaginitis [Term] id: DOID:3388 name: periodontal disease def: "A mouth disease that is relating to or affecting the structures surrounding and supporting the teeth. (DO)" [https://www.nidcr.nih.gov/health-info/gum-disease/more-info "DO"] synonym: "disease of supporting structures of teeth" EXACT [] synonym: "parodontoses" EXACT [] synonym: "parodontosis" EXACT [] synonym: "periodontal diseases" EXACT [] synonym: "periodontium disorder" EXACT [] synonym: "pyorrhea alveolaris" EXACT [] synonym: "tooth-supporting structures disease" EXACT [] xref: EFO:0010693 xref: ICD10CM:K05.6 xref: MESH:D010510 xref: MONDO:0002635 xref: NCI:C63743 is_a: DOID:1091 ! tooth disease is_a: DOID:403 ! mouth disease [Term] id: DOID:3389 name: Papillon-Lefevre disease alt_id: MIM:245000 def: "An ectodermal dysplasia that is characterized by palmoplantar keratoderma associated with early-onset periodontitis and has_material_basis_in homozygous or compound heterozygous mutation in the cathepsin C gene on chromosome 11q14. (DO)" [https://en.wikipedia.org/wiki/Papillon–Lefevre_syndrome "DO", https://www.ncbi.nlm.nih.gov/articles/PMC4507741/ "DO"] synonym: "Haim Monk Syndrome" EXACT [] synonym: "keratosis palmoplantaris with periodontopathia" EXACT [] synonym: "keratosis palmoplantar periodontopathies" EXACT [] synonym: "keratosis palmoplantar periodontopathy" EXACT [] synonym: "palmoplantar keratoderma with periodontitis" EXACT [] synonym: "PALS" EXACT [] synonym: "Papillon Lefevre syndrome" EXACT [] synonym: "Papillon-Lefvre syndrome" EXACT [] synonym: "Papillon-Lefèvre syndrome" EXACT [] synonym: "PLS" EXACT [] xref: GARD:3100 xref: MESH:D010214 xref: NCI:C84992 xref: ORDO:678 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:3388 ! periodontal disease is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:339 name: accessory nerve disease def: "A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). (DO)" [https://en.wikipedia.org/wiki/Accessory_nerve_disorder "DO", MESH:D020436] synonym: "accessory nerve diseases" EXACT [] synonym: "cranial nerve eleven diseases" EXACT [] synonym: "Cranial Nerve Eleven Disorders" EXACT [] synonym: "Cranial Nerve XI Diseases" EXACT [] synonym: "disorder of 11th nerve" EXACT [] synonym: "disorder of accessory [11th] nerve" EXACT [] synonym: "disorder of accessory nerve" EXACT [] synonym: "Eleventh Cranial Nerve Disease" EXACT [] synonym: "eleventh nerve disorder" EXACT [] synonym: "spinal accessory nerve diseases" EXACT [] xref: ICD9CM:352.4 xref: MESH:D020436 xref: NCI:C26953 is_a: DOID:3418 ! glossopharyngeal nerve disease [Term] id: DOID:3390 name: palmoplantar keratosis alt_id: OMIA:001327 def: "A keratosis characterized by abnormal thickening of the palms and the soles. (DO)" [http://en.wikipedia.org/wiki/Palmoplantar_keratoderma "DO"] synonym: "Hyperkeratosis Palmaris et Plantaris" EXACT [] synonym: "Keratosis Palmaris et Plantaris" EXACT [] synonym: "Palmoplantar Keratoderma" EXACT [] synonym: "Palmoplantar Keratodermas" EXACT [] synonym: "palmo-plantar keratodermas" EXACT [] synonym: "Palmoplantar Keratoses" EXACT [] synonym: "Unna-Thost disease" NARROW [] synonym: "Unna-Thost keratoderma" NARROW [] synonym: "Unna-Thost syndrome" NARROW [] xref: EFO:1000745 xref: GARD:8167 xref: ICD10CM:L85.2 xref: MESH:D007645 xref: NCI:C34748 is_a: DOID:161 ! keratosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:3393 name: coronary artery disease def: "An artery disease that is characterized by plaque building up along the inner walls of the arteries of the heart resulting in a narrowing of the arteries and a reduced blood supply to the cardiac muscles. (DO)" [http://en.wikipedia.org/wiki/Coronary_heart_disease "DO"] synonym: "Coronary Arterioscleroses" EXACT [] synonym: "Coronary Arteriosclerosis" EXACT [] synonym: "Coronary artery disease, modifier of" RELATED [] synonym: "Coronary Artery Diseases" EXACT [] synonym: "Coronary artery spasm 2, susceptibility to" RELATED [] synonym: "Coronary Atheroscleroses" EXACT [] synonym: "Coronary Atherosclerosis" EXACT [] synonym: "LIPOPROTEIN(A) POLYMORPHISM" RELATED [] synonym: "PREMATURE CORONARY ARTERY ATHEROSCLEROSIS" NARROW [] synonym: "Premature coronary artery disease" NARROW [] xref: EFO:0000378 xref: EFO:0001645 xref: ICD10CM:I20-I25 xref: ICD10CM:I25 xref: ICD10CM:I25.10 xref: ICD9CM:410-414.99 xref: ICD9CM:414.0 xref: ICD9CM:414.9 xref: MESH:D003324 xref: MONDO:0021661 xref: NCI:C26732 xref: NCI:C35505 xref: NCI:C50625 is_a: DOID:0050828 ! artery disease is_a: DOID:2349 ! arteriosclerosis is_a: DOID:9000528 ! Coronary Disease [Term] id: DOID:3401 name: inappropriate ADH syndrome def: "A pituitary gland disease resulting from excessive production of antidiuretic hormone (ADH). (DO)" [https://medlineplus.gov/ency/article/000314.htm "DO"] synonym: "Antidiuretic Hormone, Inappropriate Secretion" EXACT [] synonym: "Inappropriate Vasopressin Secretion Syndrome" EXACT [] synonym: "Schwartz Bartter Syndrome" EXACT [] synonym: "SIADH" EXACT [] synonym: "syndrome of inappropriate ADH (SIADH) secretion" EXACT [] synonym: "syndrome of inappropriate antidiuretic hormone secretion" EXACT [] synonym: "syndrome of inappropriate secretion of ADH" EXACT [] synonym: "syndrome of inappropriate secretion of antidiuretic hormone" EXACT [] synonym: "syndrome of inappropriate vasopressin secretion" EXACT [] xref: EFO:1000982 xref: ICD10CM:E22.2 xref: MESH:D007177 xref: NCI:C3988 is_a: DOID:225 ! syndrome is_a: DOID:53 ! pituitary gland disease is_a: DOID:9004004 ! Water-Electrolyte Imbalance [Term] id: DOID:3405 name: histiocytosis def: "A lymphatic system disease that is characterized by an excessive number of histiocytes. (DO)" [http://en.wikipedia.org/wiki/Histiocytosis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000068.htm "DO"] synonym: "chronic histiocytosis X" EXACT [] synonym: "Hand Schuller Christian disease" EXACT [] synonym: "histiocytoses" EXACT [] xref: MESH:D015614 xref: NCI:C3106 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:3407 name: carotid artery disease def: "Pathological conditions involving the CAROTID ARTERIES, including the common, internal, and external carotid arteries. ATHEROSCLEROSIS and TRAUMA are relatively frequent causes of carotid artery pathology." [MESH:D002340] synonym: "Carotid Arterial Disease" EXACT [] synonym: "Carotid Arterial Diseases" EXACT [] synonym: "carotid artery diseases" EXACT [] synonym: "Carotid Artery Disorder" EXACT [] synonym: "Carotid Artery Disorders" EXACT [] synonym: "Carotid Atherosclerotic Disease" EXACT [] synonym: "Carotid Atherosclerotic Diseases" EXACT [] synonym: "common carotid arterial diseases" EXACT [] synonym: "common carotid artery diseases" EXACT [] synonym: "disorder of carotid artery" EXACT [] synonym: "external carotid arterial diseases" EXACT [] synonym: "external carotid artery diseases" EXACT [] synonym: "internal carotid arterial diseases" EXACT [] synonym: "internal carotid artery diseases" EXACT [] xref: EFO:0003781 xref: MESH:D002340 xref: NCI:C84476 is_a: DOID:0050828 ! artery disease is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:341 name: peripheral vascular disease def: "A vascular disease that is characterized by obstruction of larger arteries not within the coronary, aortic arch vasculature, or brain. (DO)" [http://en.wikipedia.org/wiki/Peripheral_vascular_disease "DO"] synonym: "peripheral angiopathies" EXACT [] synonym: "peripheral angiopathy" EXACT [] synonym: "peripheral vascular diseases" EXACT [] xref: EFO:0003875 xref: ICD9CM:443.81 xref: MESH:D016491 is_a: DOID:178 ! vascular disease [Term] id: DOID:3410 name: carotid artery thrombosis def: "Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX." [MESH:D002341] synonym: "carotid artery thromboses" EXACT [] synonym: "Carotid Thrombosis" EXACT [] synonym: "Common Carotid Artery Thrombosis" EXACT [] synonym: "External Carotid Artery Thrombosis" EXACT [] synonym: "internal carotid artery thrombosis" EXACT [] xref: EFO:1000853 xref: MESH:D002341 is_a: DOID:3407 ! carotid artery disease is_a: DOID:4193 ! intracranial thrombosis [Term] id: DOID:3413 name: alpha-mannosidosis def: "A lysosomal storage disease that has_material_basis_in deficiency of the alpha-D-manosidase enzyme resulting in the impairment of cell function from a build up of complex sugars derived from glycoproteins in the lysosome. (DO)" [http://en.wikipedia.org/wiki/Alpha-mannosidosis "DO"] synonym: "alpha-D-mannosidosis" EXACT [] synonym: "alpha mannosidase B deficiency" EXACT [] synonym: "alpha-mannosidase deficiencies" EXACT [] synonym: "alpha Mannosidase Deficiency" EXACT [] synonym: "alpha-Mannosidoses" EXACT [] synonym: "Alpha-Mannosidosis, Type I" EXACT [] synonym: "deficiency of alpha-mannosidase" EXACT [] synonym: "lysosomal alpha B mannosidosis" EXACT [] synonym: "lysosomal alpha-D-mannosidase deficiencies" EXACT [] synonym: "lysosomal alpha D mannosidase deficiency" EXACT [] synonym: "MANSA" EXACT [] xref: GARD:6968 xref: MESH:D008363 xref: MIM:248500 xref: MONDO:0009561 xref: NCI:C84548 is_a: DOID:9003847 ! Mannosidase Deficiency Diseases [Term] id: DOID:3417 name: glossopharyngeal nerve neoplasm synonym: "neoplasm of glossopharyngeal nerve" EXACT [] synonym: "tumor of glossopharyngeal nerve" EXACT [] xref: NCI:C5828 is_a: DOID:2815 ! cranial nerve malignant neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:3418 name: glossopharyngeal nerve disease def: "A cranial nerve disease that is located_in the ninth cranial nerve or its nuclei in the medulla. (DO)" [https://www.ncbi.nlm.nih.gov/mesh?Db=mesh&term=Glossopharyngeal+Nerve+Diseases "DO"] synonym: "cranial nerve IX diseases" EXACT [] synonym: "cranial nerve IX disorders" EXACT [] synonym: "glossopharyngeal nerve diseases" EXACT [] synonym: "Glossopharyngeal Nerve Sensory Neuropathy" EXACT [] synonym: "glossopharyngeal nerve taste disorder" EXACT [] synonym: "ninth cranial nerve disease" EXACT [] synonym: "ninth cranial nerve diseases" EXACT [] xref: ICD10CM:G52 xref: ICD9CM:352 xref: MESH:D020435 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:3419 name: optic nerve neoplasm def: "Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain." [] synonym: "Benign Optic Nerve Neoplasm" EXACT [] synonym: "benign optic nerve sheath neoplasms" EXACT [] synonym: "benign optic nerve sheath tumors" EXACT [] synonym: "Benign Optic Nerve Tumor" EXACT [] synonym: "Malignant Optic Nerve Neoplasm" EXACT [] synonym: "malignant optic nerve sheath neoplasms" EXACT [] synonym: "malignant optic nerve sheath tumors" EXACT [] synonym: "malignant optic nerve tumor" EXACT [] synonym: "neoplasm of optic nerve" EXACT [] synonym: "optic nerve neoplasms" EXACT [] synonym: "optic nerve sheath neoplasm" EXACT [] synonym: "optic nerve sheath tumors" EXACT [] synonym: "tumor of second cranial nerve" EXACT [] synonym: "tumour of optic nerve" EXACT [] xref: EFO:1001073 xref: MESH:D019574 xref: NCI:C4801 is_a: DOID:1891 ! optic nerve disease is_a: DOID:2815 ! cranial nerve malignant neoplasm [Term] id: DOID:342 name: subclavian artery aneurysm xref: ICD9CM:442.82 xref: RDO:9002821 is_a: DOID:0050828 ! artery disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3421 name: trochlear nerve neoplasm synonym: "neoplasm of trochlear nerve" EXACT [] synonym: "tumor of trochlear nerve" EXACT [] xref: NCI:C5825 is_a: DOID:2815 ! cranial nerve malignant neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:3426 name: vestibular disease def: "An inner ear disease that is located in the vestibular system. (DO)" [https://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/inner-ear-disorders/introduction-to-inner-ear-disorders "DO"] synonym: "vertigo, vestibular disorder" EXACT [] synonym: "vestibular diseases" EXACT [] xref: EFO:0009691 xref: ICD10CM:H81.9 xref: MESH:D015837 is_a: DOID:2952 ! inner ear disease [Term] id: DOID:3428 name: granulomatous myositis xref: NCI:C27575 xref: RDO:9003142 is_a: DOID:633 ! myositis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:3429 name: inclusion body myositis alt_id: MIM:147421 def: "A myositis that is characterized by late onset of skeletal muscle inflammation, weakness, and atrophy with cytoplasmic granules and vacuoles in the muscle. (DO)" [http://en.wikipedia.org/wiki/Inclusion_body_myositis "DO", https://ghr.nlm.nih.gov/condition/idiopathic-inflammatory-myopathy "DO"] synonym: "Hereditary Inclusion Body Myopathy" EXACT [] synonym: "HIBM" EXACT [] synonym: "IBM" EXACT [] synonym: "inclusion body myositides" EXACT [] synonym: "sporadic inclusion body myopathy" EXACT [] synonym: "sporadic inclusion body myositis" EXACT [] xref: EFO:0007323 xref: GARD:3896 xref: ICD10CM:G72.41 xref: ICD9CM:359.71 xref: MESH:D018979 xref: MONDO:0007827 xref: NCI:C84786 xref: ORDO:611 is_a: DOID:633 ! myositis [Term] id: DOID:3431 name: cerebritis def: "A brain disease that is characterized by inflammation of the brain tissue occurring as a result of an underlying condition. (DO)" [https://en.wikipedia.org/wiki/Cerebritis "DO"] xref: NCI:C27199 is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3436 name: viral laryngitis def: "A acute laryngitis which is caused by viral infection. (DO)" [http://www.merck.com/mmpe/sec08/ch092/ch092d.html "DO"] xref: NCI:C27305 is_a: DOID:934 ! viral infectious disease is_a: DOID:9396 ! acute laryngitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3437 name: laryngitis def: "A laryngeal disease involving an inflammation of the larynx leading to hoarse voice or a complete loss of voice due to irritation of the vocal cords caused by viral, bacterial or fungal infection, inflammation due to overuse of the vocal cords and excessive coughing, smoking, or alcohol consumption. (DO)" [http://en.wikipedia.org/wiki/Laryngitis "DO"] synonym: "laryngitides" EXACT [] xref: MESH:D007827 xref: NCI:C26811 is_a: DOID:786 ! laryngeal disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:3443 name: mammary Paget's disease def: "A breast adenocarcinoma that has_material_basis_in epidermal Paget cells, which are malignant glandular epithelial cells with abundant and clear cytoplasm, usually containing mucin, and pleomorphic and hyperchromatic nucleus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4371672/ "DO"] synonym: "mammary Paget disease" EXACT [] synonym: "Mammary Pagets Disease" EXACT [] synonym: "Paget's disease" EXACT [] synonym: "Paget's Disease of Breast" EXACT [] synonym: "Paget's Disease of the Breast" EXACT [] synonym: "Paget's Disease of the Nipple" EXACT [] synonym: "Paget's Disease of the Nipple and Areola" EXACT [] synonym: "Paget cell neoplasm" EXACT [] synonym: "Paget Disease, Breast" EXACT [] synonym: "Paget Disease of Breast" EXACT [] synonym: "Pagets Disease, Breast" EXACT [] synonym: "pigmented mammary Paget disease" EXACT [] xref: MESH:D010144 xref: NCI:C7073 is_a: DOID:0060074 ! ductal carcinoma in situ is_a: DOID:3458 ! breast adenocarcinoma is_a: DOID:8791 ! breast carcinoma in situ [Term] id: DOID:3444 name: scrotum Paget's disease synonym: "Paget's disease of scrotum" EXACT [] synonym: "scrotum Paget disease" EXACT [] xref: NCI:C7728 is_a: DOID:3445 ! scrotal carcinoma is_a: DOID:3450 ! cutaneous Paget's disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:3445 name: scrotal carcinoma synonym: "carcinoma of scrotum" EXACT [] xref: NCI:C6389 is_a: DOID:305 ! carcinoma is_a: DOID:518 ! scrotum neoplasm [Term] id: DOID:3446 name: anal Paget's disease synonym: "anal Paget disease" EXACT [] synonym: "Paget's disease of anus" EXACT [] synonym: "Paget's disease of the anus" EXACT [] xref: NCI:C5598 is_a: DOID:0050922 ! gastrointestinal carcinoma is_a: DOID:3447 ! anus adenocarcinoma is_a: DOID:3450 ! cutaneous Paget's disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:3447 name: anus adenocarcinoma def: "An anal carcinoma that originating in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of anus" EXACT [NCI2004_11_17:C5600] synonym: "adenocarcinoma of the anus" RELATED [] xref: NCI:C5600 xref: RDO:9004070 is_a: DOID:0050913 ! large intestine adenocarcinoma is_a: DOID:4908 ! anal carcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3448 name: penis Paget's disease synonym: "Paget's disease of penis" EXACT [] synonym: "penis Paget disease" EXACT [] xref: NCI:C27817 is_a: DOID:3449 ! penis carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:3449 name: penis carcinoma def: "A penile cancer that is located_in the skin or tissues of the penis. (DO)" [http://en.wikipedia.org/wiki/Carcinoma_of_the_penis "DO"] synonym: "carcinoma of penis" EXACT [] synonym: "EFO:1000465" EXACT [] synonym: "penile carcinoma" EXACT [] xref: EFO:0005575 xref: EFO:1000465 xref: MONDO:0006360 xref: NCI:C9061 is_a: DOID:11615 ! penile cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:345 name: uterine disease def: "A female reproductive system disease that is located_in the uterus. (DO)" [http://www.merriam-webster.com/dictionary/uterus "DO"] synonym: "uterine diseases" EXACT [] xref: ICD10CM:N85.9 xref: ICD9CM:621.9 xref: MESH:D014591 xref: NCI:C26907 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:3450 name: cutaneous Paget's disease alt_id: MIM:167300 def: "A skin carcinoma that is characterized by infiltration of the skin by neoplastic large cells with abundant pale cytoplasm and large nuclei with prominent nucleoli. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/pages/home.jsf;jsessionid=C48DBFA9A55E2FE31390EDF86D581ABE "DO"] synonym: "cutaneous Paget disease" EXACT [] synonym: "Extra Mammary Paget's Disease" EXACT [] synonym: "extramammary Paget's disease" EXACT [] synonym: "extra mammary Paget disease" EXACT [] synonym: "extramammary Paget disease" EXACT [] synonym: "extra-mammary Pagets disease" EXACT [] synonym: "extramammary Pagets disease" EXACT [] synonym: "Paget's disease of skin" EXACT [] xref: EFO:1000249 xref: MESH:D010145 xref: MONDO:0002655 xref: NCI:C3302 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3451 ! skin carcinoma is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms [Term] id: DOID:3451 name: skin carcinoma def: "A skin cancer that is located_in tissues of the skin and develops from epithelial cells. (DO)" [http://www.cancer.gov/cancertopics/types/skin "DO"] synonym: "carcinoma of skin" EXACT [] synonym: "EFO:0009259" EXACT [] synonym: "keratinocyte carcinoma" EXACT [] synonym: "non-melanoma skin carcinoma" EXACT [] xref: EFO:0009259 xref: EFO:0009260 xref: EFO:0010176 xref: NCI:C4914 is_a: DOID:305 ! carcinoma is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:3454 name: brain infarction def: "A cerebrovascular disease that is characterized by tissue necrosis located_in the brain, resulting from inadequate blood flow through the brain. (DO)" [https://meshb.nlm.nih.gov/record/ui?ui=D020520 "DO"] synonym: "Anterior Cerebral Circulation Infarction" EXACT [] synonym: "Anterior Circulation Brain Infarction" EXACT [] synonym: "brain infarctions" EXACT [] synonym: "Brain Venous Infarction" EXACT [] synonym: "Brain Venous Infarctions" EXACT [] synonym: "MRI defined brain infarct" NARROW [] synonym: "posterior circulation brain infarction" EXACT [] xref: EFO:0004277 xref: EFO:0004715 xref: MESH:D020520 is_a: DOID:2316 ! brain ischemia is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9007096 ! Stroke [Term] id: DOID:3456 name: cervix erosion def: "A cervix disease that is characterized by the presence of enodcervical columnar epithelium on the ectocervix. (DO)" [https://en.wikipedia.org/wiki/Cervical_ectropion "DO"] synonym: "erosion of cervix" EXACT [] synonym: "Uterine Cervical Erosion" EXACT [] synonym: "Uterine Cervix Erosion" EXACT [] xref: EFO:1000862 xref: MESH:D002579 is_a: DOID:2253 ! cervix disease [Term] id: DOID:3457 name: invasive lobular carcinoma def: "A breast lobular carcinoma that is characterized by infiltration into the tissue of the breast outside of the lobule where it originated. (DO)" [http://www.breastcancer.org/symptoms/types/ilc "DO", https://www.ncbi.nlm.nih.gov/pubmed/25849106 "DO"] synonym: "EFO:0000553" EXACT [] synonym: "infiltrating lobular carcinoma" EXACT [] synonym: "invasive lobular breast carcinoma" EXACT [] xref: EFO:0000185 xref: EFO:0000553 xref: NCI:C7950 is_a: DOID:0050938 ! breast lobular carcinoma [Term] id: DOID:3458 name: breast adenocarcinoma def: "A breast carcinoma that originates in the milk ducts and/or lobules (glandular tissue) of the breast. (DO)" [http://www.virtualmedicalcentre.com/diseases.asp?did=696 "DO"] synonym: "adenocarcinoma of breast" EXACT [] synonym: "Adenocarcinoma of the breast" EXACT [] synonym: "basal-like breast carcinoma" NARROW [] synonym: "Breast adenocarcinoma, somatic" EXACT [] synonym: "EFO:0000304" EXACT [] synonym: "Mammary adenocarcinoma" EXACT [NCI2004_11_17:C5214] synonym: "Mixed Lobular and Ductal Breast Carcinoma" BROAD [] synonym: "Normal Breast-Like Subtype of Breast Carcinoma" NARROW [] xref: EFO:0000281 xref: EFO:0000304 xref: EFO:0000592 xref: EFO:1000382 xref: EFO:1000402 xref: NCI:C5214 xref: RDO:9000715 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3459 ! breast carcinoma [Term] id: DOID:3459 name: breast carcinoma def: "A breast cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Breast_cancer "DO"] synonym: "breast carcinomas" EXACT [] synonym: "carcinoma of breast" EXACT [SNOMEDCT_2005_07_31:254838004] synonym: "EFO:0000305" EXACT [] synonym: "HER2 POSITIVE BREAST CARCINOMA" NARROW [] synonym: "human mammary carcinoma" EXACT [] synonym: "human mammary carcinomas" EXACT [] synonym: "Mammary carcinoma" EXACT [NCI2004_11_17:C4872] synonym: "MULTIFOCAL BREAST CARCINOMA" NARROW [] synonym: "TP53 Positive Breast Carcinoma" NARROW [] xref: EFO:0000305 xref: EFO:1002010 xref: NCI:C124249 xref: NCI:C4872 xref: RDO:9001794 is_a: DOID:1612 ! breast cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:3463 name: breast disease def: "A disease of anatomical entity that is located_in the breast. (DO)" [http://www.nlm.nih.gov/medlineplus/breastdiseases.html "DO"] synonym: "breast diseases" EXACT [] synonym: "endocrine breast disease" EXACT [] synonym: "endocrine breast diseases" EXACT [] xref: EFO:0009483 xref: ICD10CM:N64.9 xref: ICD9CM:610-612.99 xref: MESH:D001941 xref: MONDO:0002657 xref: NCI:C26709 is_a: DOID:37 ! skin disease [Term] id: DOID:3478 name: iris cancer synonym: "malignant neoplasm of the Iris" EXACT [NCI2004_11_17:C4554] synonym: "malignant tumor of iris" EXACT [] synonym: "tumor of the Iris" EXACT [NCI2004_11_17:C3142] xref: EFO:1000996 xref: NCI:C3142 xref: NCI:C4554 is_a: DOID:3479 ! uveal cancer is_a: DOID:9006805 ! Iris Neoplasms [Term] id: DOID:3479 name: uveal cancer def: "An ocular cancer that is located_in the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. The uvea is the most common location of intraocular malignancy in adults and may commonly be caused by a subtype of cancer that arises from melanocytes. (DO)" [https://www.umkelloggeye.org/conditions-treatments/uveal-melanoma-ocular-melanoma "DO"] synonym: "malignant neoplasm of uveal tract" EXACT [] synonym: "malignant uveal tumor" EXACT [] synonym: "malignant uvea neoplasm" EXACT [] xref: EFO:1001230 xref: NCI:C6105 is_a: DOID:2174 ! ocular cancer is_a: DOID:9007031 ! Uveal Neoplasms [Term] id: DOID:348 name: blepharochalasis alt_id: MIM:110000 def: "An eyelid disease that is characterized by exacerbations and remissions of eyelid edema, which results in a stretching and subsequent atrophy of the eyelid tissue, leading to the formation of redundant folds over the lid margins. (DO)" [https://en.wikipedia.org/wiki/Blepharochalasis "DO"] synonym: "superior blepharochalasis" EXACT [] xref: ICD10CM:H02.3 xref: ICD9CM:374.34 xref: MESH:C566223 is_a: DOID:530 ! eyelid disease [Term] id: DOID:3480 name: uveal disease def: "An eye disease affecting the uvea, which are the pigmented layers of the eye consisting of the iris, ciliary body, and choroid. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C26908 "DO"] synonym: "uveal diseases" EXACT [] xref: GARD:8192 xref: MESH:D014603 xref: NCI:C26908 is_a: DOID:5614 ! eye disease [Term] id: DOID:3481 name: septicemic plague def: "A plague that results_in infection located_in vasculature where bacterial endotoxins cause coagulation, which leads to formation of tiny clots throughout the body. The infection has_symptom fever, has_symptom chills, has_symptom prostration, has_symptom abdominal pain, has_symptom shock and has_symptom bleeding into skin and other organs. (DO)" [http://en.wikipedia.org/wiki/Plague_%28disease%29#Septicemic_plague "DO", http://www.cdc.gov/ncidod/dvbid/plague/facts.htm "DO"] synonym: "septicemic plagues" EXACT [] xref: EFO:0007481 xref: ICD10CM:A20.7 xref: ICD9CM:020.2 is_a: DOID:1287 ! cardiovascular system disease is_a: DOID:3482 ! plague created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:3482 name: plague def: "A primary bacterial infectious disease that results_in infection, located_in lymph node, located_in vasculature or located_in lungs, has_material_basis_in Yersinia pestis, which is transmitted_by oriental rat flea (Xenopsylla cheopis) infected by feeding on rodents and other mammals, transmitted_by air, transmitted_by direct contact or transmitted_by ingestion of contaminated undercooked food. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29628173 "DO"] synonym: "Black Plague" EXACT [] synonym: "black plagues" EXACT [] synonym: "Meningeal Plague" EXACT [] synonym: "Meningeal Plagues" EXACT [] synonym: "N-FORMYLPEPTIDE RECEPTOR POLYMORPHISM" RELATED [] synonym: "Pulmonic Plague" EXACT [] synonym: "pulmonic plagues" EXACT [] synonym: "Yersinia pestis infections" EXACT [] synonym: "Yersinia pestis infectious disease" EXACT [] xref: EFO:0009425 xref: ICD10CM:A20 xref: ICD9CM:020 xref: MESH:D010930 xref: NCI:C85015 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9003800 ! Yersinia Infections [Term] id: DOID:3486 name: necrobiosis lipoidica def: "A degenerative disease of the dermal connective tissue characterized by the development of erythematous papules or nodules in the pretibial area. The papules form plaques covered with telangiectatic vessels. More than half of the affected patients have diabetes." [MESH:D009335] synonym: "Necrobiosis Lipoidica Diabeticorum" EXACT [] xref: EFO:1000738 xref: GARD:13040 xref: MESH:D009335 xref: NCI:C34840 is_a: DOID:37 ! skin disease is_a: DOID:9002435 ! Metabolic Skin Diseases is_a: DOID:9005057 ! Necrobiotic Disorders [Term] id: DOID:3488 name: cellulitis def: "A skin disease where there is a diffuse infection of connective tissue with severe inflammation of dermal and subcutaneous layers of the skin. Cellulitis can be caused by normal skin flora or by exogenous bacteria, and often occurs where the skin has previously been broken: cracks in the skin, cuts, blisters, burns, insect bites, surgical wounds, or sites of intravenous catheter insertion. (DO)" [http://en.wikipedia.org/wiki/Cellulitis "DO"] synonym: "phlegmon" EXACT [] xref: EFO:0003035 xref: ICD10CM:L03.90 xref: MESH:D002481 xref: NCI:C26715 xref: NCI:C34454 is_a: DOID:65 ! connective tissue disease is_a: DOID:9000859 ! Infectious Skin Diseases is_a: DOID:9005889 ! Suppuration [Term] id: DOID:349 name: systemic mastocytosis def: "A group of disorders caused by the abnormal proliferation of MAST CELLS in a variety of extracutaneous tissues including bone marrow, liver, spleen, lymph nodes, and gastrointestinal tract. Systemic mastocytosis is commonly seen in adults. These diseases are categorized on the basis of clinical features, pathologic findings, and prognosis." [MESH:D034721] synonym: "SMCD - systemic mast cell disease" EXACT [] synonym: "systemic mast cell disease" EXACT [] synonym: "Systemic Mast-Cell Diseases" EXACT [] synonym: "systemic mastocytoses" EXACT [] synonym: "systemic tissue mast cell disease" EXACT [] xref: GARD:8616 xref: MESH:D034721 xref: MONDO:0016586 xref: NCI:C9235 is_a: DOID:350 ! mastocytosis [Term] id: DOID:3490 name: Noonan syndrome def: "A RASopathy that is characterized by mildly unusual facial features, short stature, heart defects, bleeding problems, skeletal malformations, and many other signs and symptoms. (DO)" [https://ghr.nlm.nih.gov/condition/noonan-syndrome#definition "DO", https://rarediseases.info.nih.gov/diseases/10955/noonan-syndrome "DO", https://research.nhgri.nih.gov/atlas/condition/noonan-syndrome "DO", https://www.genome.gov/Genetic-Disorders/Noonan-Syndrome "DO"] synonym: "familial Turner syndrome" EXACT [] synonym: "female pseudo Turner syndrome" EXACT [] synonym: "male Turner's syndrome" EXACT [] synonym: "Male Turner Syndrome" EXACT [] synonym: "Noonan's syndrome" EXACT [] synonym: "Noonan Ehmke Syndrome" EXACT [] synonym: "Pseudo Ullrich Turner Syndrome" EXACT [] synonym: "pterygium colli syndrome" NARROW [] synonym: "Turner's phenotype, karyotype normal" EXACT [] synonym: "Turner like syndrome" EXACT [] synonym: "Turner phenotype with normal karyotype" EXACT [] synonym: "Ullrich Noonan syndrome" EXACT [] xref: GARD:10955 xref: ICD10CM:Q87.19 xref: MESH:D009634 xref: MIM:PS163950 xref: MONDO:0018997 xref: NCI:C34854 xref: NCI:C75459 xref: ORDO:648 is_a: DOID:0050177 ! monogenic disease is_a: DOID:0080690 ! RASopathy is_a: DOID:1682 ! congenital heart disease is_a: DOID:65 ! connective tissue disease is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:3491 name: Turner syndrome def: "A gonadal dysgenesis that is characterized by short stature and early loss of ovarian function resulting from ovarian hypofunction or premature ovarian failure and has_material_basis_in one missing or structurally altered X chromosome. (DO)" [https://ghr.nlm.nih.gov/condition/turner-syndrome "DO", https://rarediseases.org/rare-diseases/turner-syndrome/ "DO", https://research.nhgri.nih.gov/atlas/condition/turner-syndrome "DO", https://www.genome.gov/Genetic-Disorders/Turner-Syndrome "DO"] synonym: "Bonnevie Ullrich syndrome" EXACT [] synonym: "Gonadal Dysgenesis, 45,X" EXACT [] synonym: "gonadal dysgenesis - Turner" EXACT [] synonym: "karyotype 45, X" EXACT [] synonym: "Monosomy X" EXACT [] synonym: "monosomy X syndrome" EXACT [] synonym: "Status Bonnevie Ullrich" EXACT [] synonym: "Turner's Syndrome" EXACT [] synonym: "Turners Syndrome" EXACT [] synonym: "Ullrich Turner Syndrome" EXACT [] synonym: "XO gonadal dysgenesis" EXACT [] synonym: "XO syndrome" EXACT [] xref: GARD:2540 xref: GARD:7831 xref: ICD10CM:Q96 xref: ICD10CM:Q96.0 xref: ICD10CM:Q96.9 xref: MESH:D014424 xref: NCI:C26900 xref: NCI:C34434 xref: NCI:C85210 is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development [Term] id: DOID:3492 name: mixed connective tissue disease def: "A collagen disease that is considered an overlap of three diseases, systemic lupus erythematosus, scleroderma, and polymyositis with very high titers of circulating antinuclear antibody to a ribonucleoprotein antigen. (DO)" [http://www.merckmanuals.com/professional/sec04/ch032/ch032c.html "DO"] synonym: "connective tissue disease overlap syndrome" EXACT [] synonym: "MCTD" EXACT [] synonym: "mixed collagen vascular disease" EXACT [] synonym: "Sharp Syndrome" EXACT [] xref: EFO:0007374 xref: GARD:7051 xref: ICD10CM:M35.1 xref: MESH:D008947 xref: NCI:C84892 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:225 ! syndrome is_a: DOID:854 ! collagen disease [Term] id: DOID:3493 name: signet ring cell adenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which have signet ring appearance. (DO)" [http://en.wikipedia.org/wiki/Signet_ring_cell_carcinoma "DO"] synonym: "EFO:0000698" EXACT [] synonym: "signet ring carcinoma" EXACT [] synonym: "signet ring cell carcinoma" EXACT [] xref: EFO:0000698 xref: MESH:D018279 xref: NCI:C3774 is_a: DOID:299 ! adenocarcinoma is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms [Term] id: DOID:3494 name: bile duct signet ring cell carcinoma xref: NCI:C5776 is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:4896 ! bile duct adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:3495 name: extrahepatic bile duct adenocarcinoma def: "An extrahepatic bile duct carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of extrahepatic bile duct" EXACT [] synonym: "adenocarcinoma of the extrahepatic bile duct" RELATED [] synonym: "extrahepatic cholangiocarcinoma" EXACT [] synonym: "extrahepatic cholangiocarcinomas" EXACT [] xref: NCI:C7975 is_a: DOID:4682 ! extrahepatic bile duct carcinoma is_a: DOID:4896 ! bile duct adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:3497 name: pancreatic signet ring cell adenocarcinoma synonym: "pancreatic signet ring cell carcinoma" EXACT [] synonym: "Signet Ring cell carcinoma of pancreas" EXACT [NCI2004_11_17:C5720] xref: NCI:C5720 xref: RDO:9002822 is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:3498 ! pancreatic ductal adenocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3498 name: pancreatic ductal adenocarcinoma alt_id: RDO:9002823 def: "A pancreatic adenocarcinoma that derives_from pancreatic duct cells. (DO)" [http://cancergenome.nih.gov/cancersselected/PancreaticDuctalAdenocarcinoma "DO", http://en.wikipedia.org/wiki/Pancreatic_cancer "DO"] synonym: "ductal adenocarcinoma of the pancreas" EXACT [NCI2004_11_17:C9120] synonym: "pancreatic tubular adenocarcinoma" EXACT [] synonym: "PDAC" EXACT [] synonym: "Undifferentiated Pancreatic Carcinoma" NARROW [] xref: EFO:0002517 xref: EFO:0006471 xref: EFO:1000606 xref: NCI:C34041 xref: NCI:C9120 is_a: DOID:3587 ! pancreatic ductal carcinoma is_a: DOID:4074 ! pancreatic adenocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3499 name: gallbladder signet ring cell adenocarcinoma synonym: "Signet Ring cell carcinoma of the gallbladder" EXACT [NCI2004_11_17:C5745] xref: NCI:C5745 xref: RDO:9004660 is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:3500 ! gallbladder adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:350 name: mastocytosis alt_id: MIM:154800 def: "A heterogenous group of disorders characterized by the abnormal increase of MAST CELLS in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA)." [MESH:D008415] synonym: "EFO:0009001" EXACT [] synonym: "Mast Cell Disease" EXACT [] synonym: "Mast-Cell Diseases" EXACT [] synonym: "mast cell hyperplasia" EXACT [] synonym: "Mastocytoses" EXACT [] synonym: "Mastocytosis, Adult Sporadic" NARROW [] synonym: "MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET" NARROW [] synonym: "MASTOCYTOSIS URTICARIA PIGMENTOSA" NARROW [] synonym: "mastocytosis with associated hematologic disorder" NARROW [] xref: EFO:0009001 xref: GARD:6987 xref: ICD10CM:Q82.2 xref: MESH:D008415 xref: NCI:C84269 is_a: DOID:37 ! skin disease is_a: DOID:9003944 ! Connective Tissue Neoplasms is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:3500 name: gallbladder adenocarcinoma def: "A gallbladder carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of the gallbladder" EXACT [] synonym: "EFO:1000262" EXACT [] xref: EFO:1000262 xref: NCI:C9166 xref: RDO:9002505 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4948 ! gallbladder carcinoma [Term] id: DOID:3501 name: ampullary signet ring cell adenocarcinoma synonym: "ampullary signet ring cell carcinoma" EXACT [] xref: NCI:C6656 is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:3502 ! ampulla of Vater adenocarcinoma created_by: rgd creation_date: 2017-09-26T00:00:00Z [Term] id: DOID:3502 name: ampulla of Vater adenocarcinoma def: "An ampulla of Vater carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of ampulla of vater" EXACT [] synonym: "ampullary adenocarcinoma" EXACT [] synonym: "EFO:0008490" EXACT [] xref: EFO:0008490 xref: NCI:C6650 is_a: DOID:10816 ! duodenum adenocarcinoma is_a: DOID:4896 ! bile duct adenocarcinoma is_a: DOID:4932 ! ampulla of Vater carcinoma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:3503 name: breast signet ring cell adenocarcinoma def: "A breast adenocarcinoma that is characterized by the presence of numerous cells containing intracellular mucin, without large amounts of extracellular mucins. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751374/ "DO"] synonym: "mammary signet ring cell carcinoma" EXACT [] synonym: "signet ring cell carcinoma of breast" EXACT [] xref: NCI:C5175 xref: RDO:9004076 is_a: DOID:3458 ! breast adenocarcinoma is_a: DOID:3493 ! signet ring cell adenocarcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3504 name: prostate signet ring cell adenocarcinoma synonym: "prostate signet ring cell carcinoma" EXACT [] synonym: "signet ring cell carcinoma of prostate" EXACT [] xref: NCI:C5535 is_a: DOID:2526 ! prostate adenocarcinoma is_a: DOID:3493 ! signet ring cell adenocarcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:3507 name: dermatofibrosarcoma protuberans alt_id: MIM:607907 def: "A fibrosarcoma that is located_in the dermis laryer of the skin and that begins as a hard nodule and grows slowly. (DO)" [http://en.wikipedia.org/wiki/Dermatofibrosarcoma_protuberans "DO", http://www.cancer.gov/dictionary?CdrID=44276 "DO"] synonym: "Bednar's tumor" EXACT [] synonym: "Bednars Tumor" EXACT [] synonym: "Bednar Tumor" EXACT [] synonym: "Darier Ferrand Tumor" EXACT [] synonym: "Darier Hoffmann Tumor" EXACT [] synonym: "dermatofibrosarcoma" EXACT [] synonym: "Dermatofibrosarcoma Protuberan" EXACT [] synonym: "Dermatofibrosarcoma Protuberans, Giant Cell" EXACT [] synonym: "dermatofibrosarcomas" EXACT [] synonym: "DFSP" EXACT [] synonym: "Familial Dermatofibrosarcoma Protuberan" EXACT [] synonym: "Familial Dermatofibrosarcoma Protuberans" EXACT [] synonym: "Fibrosarcomatous Dermatofibrosarcoma Protuberan" EXACT [] synonym: "Fibrosarcomatous Dermatofibrosarcoma Protuberans" EXACT [] synonym: "Fibrosarcomatous DFSP" EXACT [] synonym: "FS-DFSP" EXACT [] synonym: "Giant Cell Fibroblastoma" EXACT [] synonym: "Giant Cell Fibroblastomas" EXACT [] synonym: "Giant Dermatofibrosarcoma Protuberan" EXACT [] synonym: "Giant Dermatofibrosarcoma Protuberans" EXACT [] synonym: "Juvenile DFSP" EXACT [] synonym: "Metastatic Dermatofibrosarcoma Protuberan" EXACT [] synonym: "Metastatic Dermatofibrosarcoma Protuberans" EXACT [] synonym: "Myxoid Dermatofibrosarcoma Protuberan" EXACT [] synonym: "Myxoid Dermatofibrosarcoma Protuberans" EXACT [] synonym: "Myxoid DFSP" EXACT [] synonym: "Pigmented Dermatofibrosarcoma Protuberan" EXACT [] synonym: "Pigmented Dermatofibrosarcoma Protuberans" EXACT [] synonym: "pigmented DFSP" EXACT [] xref: GARD:9569 xref: ICDO:8832/1 xref: MESH:D018223 xref: NCI:C4683 is_a: DOID:3355 ! fibrosarcoma [Term] id: DOID:3508 name: stricture or kinking of ureter xref: ICD9CM:593.3 xref: RDO:9003105 is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:3512 name: neurofibrosarcoma def: "A malignant tumor that arises from small cutaneous nerves, is locally aggressive, and has a potential for metastasis. Characteristic histopathologic features include proliferating atypical spindle cells with slender wavy and pointed nuclei, hypocellular areas, and areas featuring organized whorls of fibroblastic proliferation. The most common primary sites are the extremities, retroperitoneum, and trunk. These tumors tend to present in childhood, often in association with NEUROFIBROMATOSIS 1. (From DeVita et al., Cancer: Principles & Practice of Oncology, 5th ed, p1662; Mayo Clin Proc 1990 Feb;65(2):164-72)" [MESH:D018319] synonym: "Neurofibrosarcomas" EXACT [] synonym: "Neurogenic Sarcoma" EXACT [] synonym: "Neurogenic Sarcomas" EXACT [] synonym: "Neurosarcoma" EXACT [SNOMEDCT_2005_07_31:19897006] xref: GARD:8211 xref: MESH:D018319 xref: RDO:0007180 is_a: DOID:3355 ! fibrosarcoma is_a: DOID:962 ! neurofibroma [Term] id: DOID:3516 name: adult fibrosarcoma xref: NCI:C7809 xref: RDO:9004184 is_a: DOID:3355 ! fibrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3517 name: conventional fibrosarcoma xref: NCI:C9429 xref: RDO:9004185 is_a: DOID:3355 ! fibrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3520 name: childhood fibrosarcoma synonym: "pediatric fibrosarcoma" EXACT [] xref: ICD-O:M8810/3 xref: NCI:C8088 is_a: DOID:3355 ! fibrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3522 name: lateral medullary syndrome def: "A brain stem infarction that is characterized by hoarseness, dizziness, nausea, located_in the lateral part of the medulla oblongata that develops from a blockage in the posterior inferior cerebellar artery or one of its branches or of the vertebral artery, has_symptom vertigo, has_symptom ipsilateral cerebellar signs, has_symptom contralateral sensory deficits of limbs and torso, has_symptom ipsilateral sensory deficits of face, has_symptom laryngeal, pharyngeal, and palatal hemiparalysis, has_symptom ipsilateral Horner's syndrome. (DO)" [https://en.wikipedia.org/wiki/Lateral_medullary_syndrome "DO"] synonym: "Dorsolateral Medullary Syndrome" EXACT [] synonym: "Lateral Bulbar Syndrome" EXACT [] synonym: "lateral medullary syndromes" EXACT [] synonym: "Posterior Inferior Cerebellar Artery Syndrome" EXACT [] synonym: "Vieseaux Wallenberg Syndrome" EXACT [] synonym: "Wallenberg's Syndrome" EXACT [] synonym: "Wallenbergs Syndrome" EXACT [] synonym: "Wallenberg syndrome" EXACT [] xref: EFO:1001011 xref: ICD10CM:G46.3 xref: MESH:D014854 xref: NCI:C84807 is_a: DOID:225 ! syndrome is_a: DOID:3523 ! brain stem infarction [Term] id: DOID:3523 name: brain stem infarction def: "A brain infarction that is characterized by stroke of the brain stem that develops from blockage or narrowing in the arteries located_in the brainstem, has_material_basis_in damage to the cranial nerve nuclei and long tracts, has_symptom vertigo, has_symptom imbalance, has_symptom decreased level of arousal. (DO)" [https://en.wikipedia.org/wiki/Brainstem "DO", https://en.wikipedia.org/wiki/Brainstem_stroke_syndrome "DO"] synonym: "Benedict Syndrome" EXACT [] synonym: "Brainstem Infarction" EXACT [] synonym: "brain stem infarctions" EXACT [] synonym: "brainstem infarctions" EXACT [] synonym: "Brainstem Stroke" EXACT [] synonym: "Claude Syndrome" EXACT [] synonym: "Foville Syndrome" EXACT [] synonym: "Millard Gublar Syndrome" EXACT [] synonym: "Top of the Basilar Syndrome" EXACT [] synonym: "Weber syndrome" EXACT [] xref: EFO:1000847 xref: MESH:D020526 is_a: DOID:3454 ! brain infarction [Term] id: DOID:3525 name: middle cerebral artery infarction def: "NECROSIS occurring in the MIDDLE CEREBRAL ARTERY distribution system which brings blood to the entire lateral aspects of each CEREBRAL HEMISPHERE. Clinical signs include impaired cognition; APHASIA; AGRAPHIA; weak and numbness in the face and arms, contralaterally or bilaterally depending on the infarction." [MESH:D020244] synonym: "cerebral infarction, middle cerebral artery" EXACT [] synonym: "Left Middle Cerebral Artery Infarction" EXACT [] synonym: "MCA Infarction" EXACT [] synonym: "MCAO" EXACT [] synonym: "Middle Cerebral Artery Circulation Infarction" EXACT [] synonym: "Middle Cerebral Artery Embolic Infarction" EXACT [] synonym: "Middle Cerebral Artery Embolus" EXACT [] synonym: "Middle Cerebral Artery Occlusion" EXACT [] synonym: "Middle Cerebral Artery Stroke" EXACT [] synonym: "Middle Cerebral Artery Syndrome" EXACT [] synonym: "Middle Cerebral Artery Thrombosis" EXACT [] synonym: "Middle Cerebral Artery Thrombotic Infarction" EXACT [] synonym: "right middle cerebral artery infarction" EXACT [] synonym: "THROMBOTIC STROKE" BROAD [] xref: EFO:1001045 xref: MESH:D020244 is_a: DOID:3526 ! cerebral infarction is_a: DOID:3527 ! cerebral arterial disease [Term] id: DOID:3526 name: cerebral infarction alt_id: MIM:601367 def: "A cerebrovascular disease that is characterized by an area of necrotic tissue in the brain resulting from a blockage or narrowing in the arteries supplying blood and oxygen to the brain. (DO)" [https://en.wikipedia.org/wiki/Cerebral_infarction "DO"] synonym: "acute cerebral infarction" NARROW [] synonym: "AIS" EXACT [] synonym: "anterior choroidal artery infarction" EXACT [] synonym: "arterial ischemic stroke" EXACT [] synonym: "arteriopathy stroke" NARROW [] synonym: "AS" NARROW [] synonym: "Cerebral infarct" EXACT [] synonym: "Cerebral Infarction, Left Hemisphere" EXACT [] synonym: "Cerebral Infarction, Right Hemisphere" EXACT [] synonym: "cerebral infarctions" EXACT [] synonym: "CEREBRAL INFARCTION, SUSCEPTIBILITY TO" RELATED [] synonym: "cerebral ischemic stroke" EXACT [] synonym: "CEREBROVASCULAR ACCIDENT" EXACT [] synonym: "CVA - cerebral infarction" EXACT [] synonym: "ischemic stroke" EXACT [] synonym: "Ischemic Stroke, Susceptibility To" RELATED [] synonym: "Posterior Choroidal Artery Infarction" EXACT [] synonym: "subcortical infarction" EXACT [] synonym: "subcortical infarctions" EXACT [] synonym: "thromboembolic stroke" NARROW [] synonym: "TS" NARROW [] xref: ICD10CM:I63 xref: MESH:D002544 xref: NCI:C3390 xref: NCI:C50486 is_a: DOID:3454 ! brain infarction [Term] id: DOID:3527 name: cerebral arterial disease alt_id: RDO:0005162 def: "Pathological conditions of intracranial ARTERIES supplying the CEREBRUM. These diseases often are due to abnormalities or pathological processes in the ANTERIOR CEREBRAL ARTERY; MIDDLE CEREBRAL ARTERY; and POSTERIOR CEREBRAL ARTERY." [MESH:D002539] synonym: "cerebral arterial diseases" EXACT [] synonym: "Cerebral Artery Disease" EXACT [] synonym: "Cerebral Artery Diseases" EXACT [] xref: EFO:1000859 xref: MESH:D002539 is_a: DOID:0050828 ! artery disease is_a: DOID:13089 ! intracranial arterial disease [Term] id: DOID:3528 name: anterior cerebral artery infarction def: "NECROSIS occurring in the ANTERIOR CEREBRAL ARTERY system, including branches such as Heubner's artery. These arteries supply blood to the medial and superior parts of the CEREBRAL HEMISPHERE, Infarction in the anterior cerebral artery usually results in sensory and motor impairment in the lower body." [MESH:D020243] synonym: "ACA infarction" EXACT [] synonym: "ACA infarctions" EXACT [] synonym: "Anterior Cerebral Artery Stroke" EXACT [] synonym: "Anterior Cerebral Artery Syndrome" EXACT [] synonym: "Heubner's Artery Infarction" EXACT [] synonym: "Heubner Artery Infarction" EXACT [] synonym: "Heubners Artery Infarction" EXACT [] synonym: "Infarction, Anterior Cerebral Artery Circulation" EXACT [] synonym: "Infarction, Anterior Cerebral Artery Distribution" EXACT [] xref: EFO:1000807 xref: MESH:D020243 xref: MONDO:0006647 is_a: DOID:3526 ! cerebral infarction is_a: DOID:3527 ! cerebral arterial disease [Term] id: DOID:3529 name: congenital myopathy 1A def: "A congenital myopathy that is characterized by muscle weakness primarily affecting the proximal muscles of the lower limbs beginning in infancy or early childhood, although later onset of symptoms has been reported and that has_material_basis_in heterozygous mutation in the ryanodine receptor-1 gene (RYR1) on chromosome 19q13. Heterozygous mutation in the RYR1 gene also causes susceptibility to malignant hyperthermia-1 (MHS1), patients with CMYP1A are at risk for MHS. Biallelic mutations in the RYR1 gene cause autosomal recessive CMYP1B, which shows overlapping features, but is typically more severe. (DO)" [https://medlineplus.gov/genetics/condition/central-core-disease/ "DO", https://pubmed.ncbi.nlm.nih.gov/23553484/ "DO", https://pubmed.ncbi.nlm.nih.gov/34627702/ "DO"] synonym: "CCD" EXACT [] synonym: "CCO" EXACT [] synonym: "central core disease" EXACT [] synonym: "Central Core Disease, Autosomal Recessive" NARROW [] synonym: "central core disease of muscle" EXACT [] synonym: "central core diseases" EXACT [] synonym: "central core myopathies" EXACT [] synonym: "central core myopathy" EXACT [] synonym: "CMYO1A" EXACT [] synonym: "CMYP1A" EXACT [] synonym: "CNMDU1" NARROW [] synonym: "congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia" EXACT [] synonym: "congenital myopathy with cores" EXACT [] synonym: "congenital neuromuscular disease with uniform type 1 fiber" NARROW [] synonym: "moderate minicore myopathy with hand involvement" NARROW [] synonym: "Shy Magee syndrome" EXACT [] xref: EFO:1000855 xref: GARD:6014 xref: ICD10CM:G71.29 xref: MESH:D020512 xref: MIM:117000 xref: MONDO:0007294 xref: NCI:C83010 xref: ORDO:597 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:3530 name: chronic wasting disease def: "A transmissible spongiform encephalopathy (prion disease) of DEER and elk characterized by chronic weight loss leading to death. It is thought to spread by direct contact between animals or through environmental contamination with the prion protein (PRIONS)." [MESH:D034081] xref: MESH:D034081 xref: RDO:0007484 is_a: DOID:649 ! prion disease is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:3534 name: Lafora disease alt_id: OMIA:000690 def: "A progressive myoclonus epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations, and progressive neurological decline with onset between 8 and 18 years of age that has_material_basis_in homozygous or compound heterozygous mutation in either NHLRC1 on chromosome 6p22.3 or EPM2A on chromosome 6q24.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19267391 "DO", https://www.ncbi.nlm.nih.gov/pubmed/19469843 "DO"] synonym: "epilepsy progressive myoclonic 2" EXACT [] synonym: "EPM2" EXACT [] synonym: "Lafora's disease" EXACT [] synonym: "Lafora body disease" EXACT [] synonym: "Lafora Body Disorder" EXACT [] synonym: "Lafora Myoclonic Epilepsy" EXACT [] synonym: "Lafora Progressive Myoclonic Epilepsy" EXACT [] synonym: "Lafora Progressive Myoclonus Epilepsy" EXACT [] synonym: "Lafora type progressive myoclonic epilepsy" EXACT [] synonym: "late-onset Lafora body disease" EXACT [] synonym: "LBD" EXACT [] synonym: "MELF" EXACT [] synonym: "myoclonic epilepsy of Lafora" EXACT [] synonym: "myoclonus epilepsy of Lafora" EXACT [] synonym: "progressive myoclonic epilepsy type 2" EXACT [] synonym: "progressive myoclonus epilepsy, Lafora type" EXACT [] xref: GARD:8214 xref: MESH:D020192 xref: MIM:PS254780 xref: NCI:C84804 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:891 ! progressive myoclonus epilepsy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:3535 name: Unverricht-Lundborg syndrome alt_id: MIM:254800 def: "A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19469843 "DO"] synonym: "Baltic myoclonic epilepsies" EXACT [] synonym: "Baltic myoclonic epilepsy" EXACT [] synonym: "Baltic myoclonus" EXACT [] synonym: "Baltic myoclonus epilepsies" EXACT [] synonym: "Baltic myoclonus epilepsy" EXACT [] synonym: "Epilepsy, Progressive Myoclonic 1" EXACT [] synonym: "Epilepsy, Progressive Myoclonic Type 1" EXACT [] synonym: "EPM1" EXACT [] synonym: "Mediterranean Myoclonic Epilepsy" EXACT [] synonym: "Myoclonic Epilepsy of Unverricht and Lundborg" EXACT [] synonym: "progressive myoclonus epilepsy 1" EXACT [] synonym: "progressive myoclonus epilepsy of Unverricht and Lundborg" EXACT [] synonym: "ULD" EXACT [] synonym: "Unverricht's disease" EXACT [] synonym: "Unverricht disease" EXACT [] synonym: "Unverricht diseases" EXACT [] synonym: "Unverricht Lundborg disease" EXACT [] xref: GARD:3876 xref: MESH:D020194 xref: NCI:C179710 is_a: DOID:891 ! progressive myoclonus epilepsy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:3540 name: choroid plexus cancer def: "A cerebral ventricle cancer that is located_in the plexus located_in the ventricles of the brain. (DO)" [http://en.wikipedia.org/wiki/Choroid_plexus "DO"] synonym: "tumor of choroid plexus" EXACT [] synonym: "tumor of the choroid plexus" EXACT [] xref: EFO:0007206 xref: NCI:C3473 is_a: DOID:3541 ! cerebral ventricle cancer is_a: DOID:9000080 ! Choroid Plexus Neoplasms created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:3541 name: cerebral ventricle cancer def: "A cerebrum cancer that is located_in the cerebral ventricles. (DO)" [http://en.wikipedia.org/wiki/Ventricular_system "DO"] synonym: "cerebral ventricle neoplasm" EXACT [CSP2005:2006-2736] synonym: "Intraventricular tumor of brain" EXACT [NCI2004_11_17:C2937] xref: EFO:0007201 xref: GARD:6025 xref: ICD10CM:C71.5 xref: ICD9CM:191.5 xref: NCI:C2937 xref: RDO:9004641 is_a: DOID:368 ! cerebrum cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:3542 name: adult choroid plexus cancer synonym: "adult choroid plexus tumor" BROAD [] synonym: "neoplasm of the adult choroid plexus" BROAD [] xref: NCI:C8568 is_a: DOID:3540 ! choroid plexus cancer created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:3544 name: atypical choroid plexus papilloma def: "A choroid plexus papilloma characterized by increased mitotic activity. (NCI)" [] xref: ICDO:9390/1 xref: NCI:C53686 is_a: DOID:2626 ! choroid plexus papilloma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:3545 name: childhood choroid plexus cancer synonym: "childhood choroid plexus neoplasm" RELATED [] xref: ICD-O:M9390/3 xref: NCI:C42080 is_a: DOID:3540 ! choroid plexus cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:355 name: mast-cell sarcoma def: "A sarcoma that has_material_basis_in mast cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24745684 "DO"] synonym: "EFO:1000364" EXACT [] synonym: "Malignant Mastocytoma" EXACT [] synonym: "Malignant Mastocytomas" EXACT [] synonym: "Mast-Cell Sarcomas" EXACT [] xref: EFO:1000364 xref: ICD10CM:C96.22 xref: ICD9CM:202.6 xref: MESH:D012515 xref: NCI:C9348 is_a: DOID:1115 ! sarcoma is_a: DOID:350 ! mastocytosis is_a: DOID:3664 ! mast cell neoplasm [Term] id: DOID:3557 name: superior mesenteric artery syndrome def: "A duodenal obstruction resulting from compression of the duodenum between the aorta and the superior mesenteric artery. (DO)" [https://rarediseases.org/rare-diseases/superior-mesenteric-artery-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK482209/ "DO"] synonym: "Cast Syndrome" EXACT [] synonym: "Mesenteric Duodenal Compression Syndrome" EXACT [] synonym: "Wilkie's syndrome" EXACT [] synonym: "Wilkie Syndrome" EXACT [] xref: EFO:1001201 xref: GARD:7712 xref: MESH:D013478 xref: NCI:C85175 xref: ORDO:622099 is_a: DOID:0050828 ! artery disease is_a: DOID:225 ! syndrome is_a: DOID:3558 ! duodenal obstruction [Term] id: DOID:3558 name: duodenal obstruction def: "Hindrance of the passage of luminal contents in the DUODENUM. Duodenal obstruction can be partial or complete, and caused by intrinsic or extrinsic factors. Simple obstruction is associated with diminished or stopped flow of luminal contents. Strangulating obstruction is associated with impaired blood flow to the duodenum in addition to obstructed flow of luminal contents." [MESH:D004380] synonym: "Duodenal Obstructions" EXACT [] xref: EFO:1000908 xref: ICD10CM:K31.5 xref: MESH:D004380 xref: NCI:C79548 xref: RDO:0000993 is_a: DOID:4072 ! duodenum disease is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:3559 name: pseudomyxoma peritonei def: "An appendix cancer that is characterized by progressive accumulation of mucus-secreting tumor cells within the abdomen and pelvis. (DO)" [http://en.wikipedia.org/wiki/Pseudomyxoma_peritonei "DO", http://www.cancer.gov/dictionary?CdrID=44256 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/843/viewAbstract "DO", https://www.ncbi.nlm.nih.gov/pubmed/14567019 "DO"] synonym: "gelatinous ascites" EXACT [] synonym: "mucinous ascites" EXACT [] synonym: "pseudomyxoma peritonei syndrome" EXACT [] synonym: "pseudomyxoma peritonei syndromes" EXACT [] synonym: "syndrome of pseudomyxoma peritonei" EXACT [] xref: EFO:0007456 xref: GARD:7488 xref: ICDO:8480/6 xref: MESH:D011553 xref: NCI:C3345 is_a: DOID:11239 ! appendix cancer is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms [Term] id: DOID:3565 name: meningioma def: "A central nervous system cancer that are manifested in the central nervous system and arise from the arachnoid cap cells of the arachnoid villi in the meninges. (DO)" [http://en.wikipedia.org/wiki/Meningioma "DO"] synonym: "meningiomas" EXACT [] synonym: "meningiomatoses" EXACT [] synonym: "meningiomatosis" EXACT [] synonym: "meningothelial cell tumor" EXACT [] synonym: "Metaplastic Meningioma" NARROW [] synonym: "multiple meningioma" EXACT [] synonym: "multiple meningiomas" EXACT [] synonym: "neoplasm of the meninges" EXACT [] synonym: "primary meningeal tumor" EXACT [] xref: EFO:0003098 xref: EFO:1000375 xref: GARD:7015 xref: ICD10CM:D32.9 xref: ICDO:9530/0 xref: MESH:D008579 xref: MONDO:0016642 xref: NCI:C3230 xref: NCI:C6971 xref: ORDO:2495 is_a: DOID:3620 ! central nervous system cancer is_a: DOID:9002573 ! Nerve Tissue Neoplasms is_a: DOID:9006948 ! Vascular Tissue Neoplasms is_a: DOID:9007166 ! Meningeal Neoplasms [Term] id: DOID:3571 name: liver cancer def: "A hepatobiliary system cancer that is located_in the liver. (DO)" [http://en.wikipedia.org/wiki/Liver "DO"] synonym: "ca liver - primary" EXACT [] synonym: "cancer of liver" EXACT [] synonym: "hepatic cancer" EXACT [] synonym: "malignant hepato-biliary neoplasm" EXACT [] synonym: "malignant neoplasm of liver" EXACT [] synonym: "malignant neoplasm of liver, not specified as primary or secondary" EXACT [] synonym: "malignant tumor of liver" EXACT [] synonym: "non-resectable primary hepatic malignant neoplasm" EXACT [] synonym: "primary liver cancer" EXACT [] synonym: "primary malignant neoplasm of liver" EXACT [] synonym: "resectable malignant neoplasm of liver" EXACT [] synonym: "resectable malignant neoplasm of the liver" EXACT [] xref: ICD10CM:C22.0 xref: ICD10CM:C22.9 xref: ICD9CM:155.0 xref: ICD9CM:155.2 xref: NCI:C34803 xref: NCI:C7692 is_a: DOID:0080355 ! hepatobiliary system cancer is_a: DOID:170 ! endocrine gland cancer is_a: DOID:9007188 ! Liver Neoplasms created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:3572 name: intracranial sinus thrombosis def: "Formation or presence of a blood clot (THROMBUS) in the CRANIAL SINUSES, large endothelium-lined venous channels situated within the SKULL. Intracranial sinuses, also called cranial venous sinuses, include the superior sagittal, cavernous, lateral, petrous sinuses, and many others. Cranial sinus thrombosis can lead to severe HEADACHE; SEIZURE; and other neurological defects." [MESH:D012851] synonym: "cerebral sinovenous thrombosis" EXACT [] synonym: "Cranial Sinus Thromboses" EXACT [] synonym: "Cranial Sinus Thrombosis" EXACT [] synonym: "CSVT" EXACT [] synonym: "Intracranial Sinus Thrombophlebitides" EXACT [] synonym: "Intracranial Sinus Thrombophlebitis" EXACT [] synonym: "Intracranial Sinus Thromboses" EXACT [] synonym: "Petrous Sinus Thrombophlebitides" EXACT [] synonym: "Petrous Sinus Thrombophlebitis" EXACT [] synonym: "Petrous Sinus Thromboses" EXACT [] synonym: "Petrous Sinus Thrombosis" EXACT [] synonym: "Sinus Thromboses" EXACT [] synonym: "Sinus Thrombosis" EXACT [] synonym: "Venous Sinus Thrombosis, Cranial" EXACT [] xref: MESH:D012851 xref: RDO:0006580 is_a: DOID:4193 ! intracranial thrombosis [Term] id: DOID:3574 name: lateral sinus thrombosis alt_id: RDO:0007363 def: "Formation or presence of a blood clot (THROMBUS) in the LATERAL SINUSES. This condition is often associated with ear infections (OTITIS MEDIA or MASTOIDITIS) without antibiotic treatment. In developed nations, lateral sinus thrombosis can result from CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; NEUROSURGICAL PROCEDURES; THROMBOPHILIA; and other conditions. Clinical features include HEADACHE; VERTIGO; and increased intracranial pressure." [MESH:D020227] synonym: "lateral sinus thrombophlebitis" EXACT [] synonym: "Lateral Sinus Thromboses" EXACT [] synonym: "Septic Phlebitis, Lateral Sinus" EXACT [] synonym: "thrombosis of lateral venous sinus" EXACT [] synonym: "Transverse Sinus Thromboses" EXACT [] synonym: "transverse sinus thrombosis" EXACT [] xref: MESH:D020227 is_a: DOID:3572 ! intracranial sinus thrombosis [Term] id: DOID:3575 name: cavernous sinus thrombosis def: "Formation or presence of a blood clot (THROMBUS) in the CAVERNOUS SINUS of the brain. Infections of the paranasal sinuses and adjacent structures, CRANIOCEREBRAL TRAUMA, and THROMBOPHILIA are associated conditions. Clinical manifestations include dysfunction of cranial nerves III, IV, V, and VI, marked periorbital swelling, chemosis, fever, and visual loss. (From Adams et al., Principles of Neurology, 6th ed, p711)" [MESH:D020226] synonym: "Cavernous Sinus Thrombophlebitides" EXACT [] synonym: "Cavernous Sinus Thrombophlebitis" EXACT [] synonym: "Cavernous Sinus Thromboses" EXACT [] synonym: "Caverous Sinus Septic Phlebitis" EXACT [] synonym: "Septic Phlebitis, Cavernous Sinus" EXACT [] synonym: "Thrombosis of cavernous venous sinus" EXACT [SNOMEDCT_2005_07_31:89980009] xref: MESH:D020226 xref: RDO:0007362 is_a: DOID:3572 ! intracranial sinus thrombosis [Term] id: DOID:3576 name: sagittal sinus thrombosis def: "Formation or presence of a blood clot (THROMBUS) in the SUPERIOR SAGITTAL SINUS or the inferior sagittal sinus. Sagittal sinus thrombosis can result from infections, hematological disorders, CRANIOCEREBRAL TRAUMA; and NEUROSURGICAL PROCEDURES. Clinical features are primarily related to the increased intracranial pressure causing HEADACHE; NAUSEA; and VOMITING. Severe cases can evolve to SEIZURES or COMA." [MESH:D020225] synonym: "Sagittal Sinus Septic Phlebitis" EXACT [] synonym: "Sagittal Sinus Thrombophlebitis" EXACT [] synonym: "Sagittal Sinus Thromboses" EXACT [] synonym: "Thrombosis of superior longitudinal sinus" EXACT [SNOMEDCT_2005_07_31:192760003] synonym: "Thrombosis of superior sagittal sinus" EXACT [SNOMEDCT_2005_07_31:70607008] xref: MESH:D020225 xref: RDO:0007361 is_a: DOID:3572 ! intracranial sinus thrombosis [Term] id: DOID:3577 name: Sertoli cell tumor alt_id: DOID:0050617 def: "A sex cord-gonadal stromal tumor characterized by excessive proliferation of Sertoli cells. (DO)" [https://en.wikipedia.org/wiki/Sertoli_cell_tumour "DO"] synonym: "Testicular Large Cell Calcifying Sertoli Cell Tumor" NARROW [] synonym: "Testicular Sclerosing Sertoli Cell Tumor" NARROW [] synonym: "Testicular Sertoli Cell Tumor" NARROW [] synonym: "tubular androblastoma" EXACT [] xref: EFO:1000568 xref: EFO:1000571 xref: EFO:1000572 xref: ICDO:8640/1 xref: MESH:D012707 xref: NCI:C39976 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:3578 name: ovarian gonadoblastoma def: "An ovarian benign neoplasm that is has_material_basis_in a mixture of gonadal elements. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21879333 "DO"] xref: EFO:1000420 xref: NCI:C39985 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:3301 ! gonadoblastoma [Term] id: DOID:3579 name: testicular gonadoblastoma xref: NCI:C39911 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:2519 ! testicular disease is_a: DOID:3301 ! gonadoblastoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:3587 name: pancreatic ductal carcinoma def: "A pancreatic carcinoma located_in the pancreatic duct. (DO)" [http://en.wikipedia.org/wiki/Pancreatic_cancer "DO", http://en.wikipedia.org/wiki/Pancreatic_duct "DO"] synonym: "ductal carcinoma of the pancreas" EXACT [] synonym: "Duct Cell Carcinoma of the Pancreas" EXACT [] synonym: "malignant neoplasm of duct of Wirsung" EXACT [] synonym: "Pancreas Duct-Cell Carcinoma" EXACT [] synonym: "Pancreas Duct-Cell Carcinomas" EXACT [] synonym: "Pancreatic Ductal Carcinomas" EXACT [] synonym: "pancreatic duct cancer" EXACT [] synonym: "pancreatic duct cell carcinoma" EXACT [] xref: ICD10CM:C25.3 xref: ICD9CM:157.3 xref: MESH:D021441 is_a: DOID:4905 ! pancreatic carcinoma is_a: DOID:9008138 ! Ductal Carcinoma [Term] id: DOID:3590 name: gestational trophoblastic neoplasm def: "A group of diseases arising from pregnancy that are commonly associated with hyperplasia of trophoblasts (TROPHOBLAST) and markedly elevated human CHORIONIC GONADOTROPIN. They include HYDATIDIFORM MOLE, invasive mole (HYDATIDIFORM MOLE, INVASIVE), placental-site trophoblastic tumor (TROPHOBLASTIC TUMOR, PLACENTAL SITE), and CHORIOCARCINOMA. These neoplasms have varying propensities for invasion and spread." [] synonym: "gestational trophoblastic disease" EXACT [] synonym: "gestational trophoblastic diseases" EXACT [] synonym: "gestational trophoblastic neoplasia" EXACT [] synonym: "gestational trophoblastic neoplasms" EXACT [] xref: ICD10CM:O01 xref: ICD9CM:630 xref: MESH:D031901 xref: MIM:PS231090 xref: NCI:C3110 xref: NCI:C4699 xref: NCI:C7887 is_a: DOID:1380 ! endometrial cancer is_a: DOID:4085 ! trophoblastic neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3593 name: epithelioid trophoblastic tumor synonym: "epithelioid trophoblastic neoplasm" EXACT [] xref: NCI:C6900 is_a: DOID:1324 ! lung cancer is_a: DOID:4085 ! trophoblastic neoplasm is_a: DOID:4362 ! cervical cancer created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3594 name: choriocarcinoma def: "A placenta cancer that has_material_basis_in trophoblastic cells. (DO)" [https://en.wikipedia.org/wiki/Choriocarcinoma "DO"] synonym: "Choriocarcinomas" EXACT [] synonym: "chorioepithelioma" EXACT [] synonym: "EFO:0002893" EXACT [] synonym: "Gastric Choriocarcinoma" NARROW [] xref: EFO:0002893 xref: EFO:1000269 xref: GARD:6059 xref: ICD10CM:C58 xref: ICDO:9100/3 xref: MESH:D002822 xref: NCI:C2948 xref: NCI:C60377 is_a: DOID:2021 ! placenta cancer is_a: DOID:299 ! adenocarcinoma is_a: DOID:4085 ! trophoblastic neoplasm [Term] id: DOID:3596 name: placental site trophoblastic tumor def: "A choriocarcinoma that is characterized by low beta-hCG levels and arises from neoplastic transformation of intermediate trophoblastic cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14614893 "DO"] synonym: "EFO:1001111" EXACT [] synonym: "placental-site gestational trophoblastic neoplasm" EXACT [] synonym: "placental-site trophoblastic tumors" EXACT [] synonym: "placental site trophoblastic tumour" EXACT [] synonym: "placental trophoblastic tumor" EXACT [] synonym: "placental trophoblastic tumors" EXACT [] xref: EFO:1001111 xref: ICDO:9104/1 xref: MESH:D018245 xref: NCI:C3757 is_a: DOID:3594 ! choriocarcinoma [Term] id: DOID:3602 name: toxic encephalopathy alt_id: OMIA:001402 def: "A nervous system disease that results from exposure to neurotoxicants and is characterized by an altered mental status, memory loss, and visual problems. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3521923/ "DO", https://en.wikipedia.org/wiki/Toxic_encephalopathy "DO"] synonym: "nervous system poisoning" EXACT [] synonym: "neurotoxic disorder" EXACT [] synonym: "neurotoxic disorders" EXACT [] synonym: "Neurotoxicity Syndrome" EXACT [] synonym: "neurotoxicity syndromes" EXACT [] synonym: "Neurotoxin Disease" EXACT [] synonym: "Neurotoxin Diseases" EXACT [] synonym: "Neurotoxin Disorder" EXACT [] synonym: "Neurotoxin Disorders" EXACT [] synonym: "toxic encephalitides" EXACT [] synonym: "toxic encephalitis" EXACT [] synonym: "toxic encephalopathies" EXACT [] xref: EFO:0005595 xref: MESH:D020258 xref: NCI:C27961 is_a: DOID:225 ! syndrome is_a: DOID:863 ! nervous system disease is_a: DOID:9000046 ! Poisoning [Term] id: DOID:3603 name: mucinous cystadenocarcinoma def: "A cystadenocarcinoma that derives_from epithelial cells originating in glandular tissue, with a capsulated structure and mucus-producing cells. (DO)" [https://www.thehealthboard.com/what-is-a-mucinous-cystadenocarcinoma.htm "DO"] synonym: "EFO:0007378" EXACT [] synonym: "mucinous cystadenocarcinomas" EXACT [] synonym: "pseudomucinous cystadenocarcinoma" EXACT [] xref: EFO:0007378 xref: ICDO:8470/3 xref: MESH:D018282 xref: NCI:C3776 is_a: DOID:3111 ! cystadenocarcinoma [Term] id: DOID:3604 name: ovarian mucinous cystadenocarcinoma def: "An ovarian cystadenocarcinoma that is characterized by the presence of mucin. (DO)" [https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor "DO"] synonym: "EFO:1001963" EXACT [] synonym: "mucinous cystadenocarcinoma of ovary" EXACT [] xref: EFO:1001963 xref: NCI:C4026 is_a: DOID:3603 ! mucinous cystadenocarcinoma is_a: DOID:3605 ! ovarian cystadenocarcinoma is_a: DOID:6067 ! ovarian mucinous neoplasm created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:3605 name: ovarian cystadenocarcinoma def: "An ovary adenocarcinoma that is characterized by the presence of cysts or cystic spaces. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2196390/ "DO"] synonym: "cystadenocarcinoma of ovary" EXACT [] synonym: "cystadenocarcinoma of the ovary" EXACT [] synonym: "EFO:1001962" EXACT [] xref: EFO:1001962 xref: NCI:C5228 is_a: DOID:3111 ! cystadenocarcinoma is_a: DOID:3713 ! ovary adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:3606 name: ovarian mucinous adenocarcinoma def: "An ovary adenocarcinoma that is characterized by the presence of mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24487473 "DO"] synonym: "EFO:0006462" EXACT [] synonym: "mucinous adenocarcinoma of ovary" EXACT [] synonym: "mucinous carcinoma of ovary" EXACT [] xref: EFO:0006462 xref: NCI:C5243 xref: ORDO:398961 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3713 ! ovary adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:3607 name: appendix mucinous cystadenocarcinoma synonym: "colloidal cystadenocarcinoma of the appendix" EXACT [] xref: NCI:C5511 is_a: DOID:3603 ! mucinous cystadenocarcinoma is_a: DOID:3608 ! appendix adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:3608 name: appendix adenocarcinoma def: "An appendix carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of appendix" EXACT [] synonym: "appendiceal adenocarcinoma" EXACT [] synonym: "EFO:1000088" EXACT [] xref: EFO:1000088 xref: NCI:C7718 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4902 ! appendix carcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:3609 name: breast mucinous cystadenocarcinoma def: "A breast mucinous carcinoma that is characterized by both intracellular and extracellular mucin and cystic spaces are lined by tall columnar cells that contain profuse extracellular mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5643878/ "DO"] xref: NCI:C40354 is_a: DOID:3603 ! mucinous cystadenocarcinoma is_a: DOID:3610 ! breast mucinous carcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:361 name: cervix endometriosis def: "A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21890095 "DO"] synonym: "cervical endometriosis" EXACT [] synonym: "endometriosis of cervix" EXACT [] xref: NCI:C27623 is_a: DOID:2253 ! cervix disease [Term] id: DOID:3610 name: breast mucinous carcinoma def: "A breast adenocarcinoma in which at least one half of the tumor volume is extracellular mucin throughout. (DO)" [http://surgpathcriteria.stanford.edu/breast/mucincabr/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24305754 "DO"] synonym: "invasive mucinous breast carcinoma" EXACT [] synonym: "mucinous carcinoma of breast" RELATED [] xref: NCI:C9131 is_a: DOID:3458 ! breast adenocarcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3611 name: acute retinal necrosis syndrome def: "Mild to fulminant necrotizing vaso-occlusive retinitis associated with a high incidence of retinal detachment and poor vision outcome." [MESH:D015882] synonym: "acute retinal necroses" EXACT [] synonym: "acute retinal necrosis" EXACT [] xref: EFO:1000795 xref: MESH:D015882 is_a: DOID:3612 ! retinitis [Term] id: DOID:3612 name: retinitis def: "Inflammation of the RETINA. It is rarely limited to the retina, but is commonly associated with diseases of the choroid (CHORIORETINITIS) and of the OPTIC DISK (neuroretinitis)." [MESH:D012173] xref: MESH:D012173 xref: NCI:C115993 is_a: DOID:5679 ! retinal disease [Term] id: DOID:3613 name: Canavan disease alt_id: MIM:271900 def: "A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2512436/ "DO", https://pubmed.ncbi.nlm.nih.gov/3354621/ "DO", MESH:D017825] synonym: "ACY2 deficiency" EXACT [] synonym: "Aminoacylase 2 Deficiency" EXACT [] synonym: "ASPA Deficiency" EXACT [] synonym: "Aspartoacylase Deficiency" EXACT [] synonym: "Aspartoacylase Deficiency Disease" EXACT [] synonym: "ASP Deficiency" EXACT [] synonym: "Canavan Disease, Familial Form" EXACT [] synonym: "Canavan Disease, Mild" EXACT [] synonym: "Canavan Disease, Sporadic Form" EXACT [] synonym: "Canavan van Bogaert Bertrand Disease" EXACT [] synonym: "familial form of Canavan disease" EXACT [] synonym: "Infantile Canavan Disease" EXACT [] synonym: "Juvenile Canavan Disease" EXACT [] synonym: "Neonatal Canavan Disease" EXACT [] synonym: "Spongiform Leukodystrophy" EXACT [] synonym: "Spongy Degeneration Of Central Nervous System" EXACT [] synonym: "Spongy Degeneration of Infancy" EXACT [] synonym: "Spongy Degeneration of the Brain" EXACT [] synonym: "Spongy Degeneration of the Central Nervous System" EXACT [] synonym: "Spongy Degeneration of White Matter In Infancy" EXACT [] synonym: "Spongy Disease of Central Nervous System" EXACT [] synonym: "Spongy Disease of White Matter" EXACT [] synonym: "sporadic form of Canavan disease" EXACT [] synonym: "Type I Canavan Disease" EXACT [] synonym: "Type II Canavan Disease" EXACT [] synonym: "Type III Canavan Disease" EXACT [] synonym: "Van Bogaert Bertrand Syndrome" EXACT [] synonym: "Von Bogaert Bertrand disease" EXACT [] xref: GARD:5984 xref: MESH:D017825 xref: NCI:C84611 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:3614 name: Kallmann syndrome def: "A hypogonadotropic hypogonadism with a defective sense of smell (anosmia or hyposmia). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26194704 "DO"] synonym: "anosmic hypogonadism" EXACT [] synonym: "anosmic hypogonadisms" EXACT [] synonym: "anosmic idiopathic hypogonadotropic hypogonadism" EXACT [] synonym: "autosomal dominant form of Kallmann syndrome" NARROW [] synonym: "autosomal recessive form of Kallmann syndrome" NARROW [] synonym: "De Morsier-Kallman's syndrome" EXACT [] synonym: "dysplasia olfactogenitalis of De Morsier" EXACT [] synonym: "familial hypogonadism with anosmia" EXACT [] synonym: "HHA" EXACT [] synonym: "hypogonadism with anosmia" EXACT [] synonym: "Hypogonadotropic Hypogonadism and Anosmia" EXACT [] synonym: "hypogonadotropic hypogonadism, anosmia, and midline cranial anomalies (cleft lip, cleft palate and imperfect fusion)" EXACT [] synonym: "hypogonadotropic hypogonadism-anosmia syndrome" EXACT [] synonym: "Kallman's syndrome" EXACT [] synonym: "Kallmann's syndrome" EXACT [] synonym: "Kallmanns syndrome" EXACT [] synonym: "Kallman syndrome" EXACT [] synonym: "KMS" EXACT [] xref: GARD:10771 xref: MESH:D017436 xref: NCI:C75479 xref: ORDO:478 is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:630 ! genetic disease is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:3615 name: infiltrating angiolipoma def: "An angiolipoma that is characterized by prominent vascularity that invades the surrounding deep tissue. (DO)" [https://www.spandidos-publications.com/10.3892/ol.2014.2737 "DO"] xref: NCI:C7449 is_a: DOID:3616 ! angiolipoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:3616 name: angiolipoma def: "A lipoma that is a painful subcutaneous nodule, having all other features of a typical lipoma. (DO)" [http://en.wikipedia.org/wiki/Angiolipoma "DO"] synonym: "angiolipomas" EXACT [] synonym: "EFO:1000085" EXACT [] xref: EFO:1000085 xref: ICDO:8861/0 xref: MESH:D018206 xref: NCI:C3733 is_a: DOID:3315 ! lipoma is_a: DOID:9008378 ! Adipose Tissue Neoplasms [Term] id: DOID:3617 name: epidural spinal canal angiolipoma synonym: "angiolipoma of extradural spinal canal" EXACT [] xref: NCI:C5424 is_a: DOID:13743 ! spinal cord lipoma is_a: DOID:3616 ! angiolipoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:3618 name: epidural spinal canal neoplasm def: "Neoplasms located in the space between the vertebral PERIOSTEUM and DURA MATER surrounding the SPINAL CORD. Tumors in this location are most often metastatic in origin and may cause neurologic deficits by mass effect on the spinal cord or nerve roots or by interfering with blood supply to the spinal cord." [MESH:D015174] synonym: "epidural neoplasm" EXACT [] synonym: "epidural neoplasms" EXACT [] synonym: "Epidural Tumor" EXACT [] synonym: "Epidural Tumors" EXACT [] synonym: "extradural tumor" EXACT [] synonym: "Malignant Epidural Neoplasm" EXACT [] synonym: "Malignant Epidural Neoplasms" EXACT [] xref: EFO:1000923 xref: MESH:D015174 xref: NCI:C3019 is_a: DOID:5612 ! spinal cancer is_a: DOID:9006391 ! Spinal Cord Neoplasms [Term] id: DOID:3620 name: central nervous system cancer def: "A nervous system cancer that is located_in the central nervous system. (DO)" [http://en.wikipedia.org/wiki/Central_nervous_system "DO"] synonym: "CNS neoplasm" EXACT [] synonym: "EFO:0000326" EXACT [] synonym: "malignant neoplasm of central nervous system" EXACT [] synonym: "malignant tumor of CNS" EXACT [] xref: EFO:0000326 xref: ICD10CM:C72.9 xref: NCI:C4627 is_a: DOID:3093 ! nervous system cancer is_a: DOID:9007701 ! Central Nervous System Neoplasms [Term] id: DOID:3627 name: aortic aneurysm def: "An aortic disease that is characterized by an enlargement (dilation) of the aorta to greater than 1.5 times normal size. (DO)" [http://en.wikipedia.org/wiki/Aortic_aneurysm "DO"] synonym: "Aortic Aneurysms" EXACT [] synonym: "AORTIC DILATATION" EXACT [] synonym: "ASCENDING AORTIC DILATION" NARROW [] synonym: "FAMILIAL AORTIC ANEURYSMS" NARROW [] xref: EFO:0001666 xref: ICD10CM:I71.1 xref: ICD10CM:I71.3 xref: ICD10CM:I71.5 xref: ICD10CM:I71.8 xref: ICD10CM:I71.9 xref: ICD9CM:441.1 xref: ICD9CM:441.3 xref: ICD9CM:441.5 xref: ICD9CM:441.6 xref: MESH:D001014 xref: NCI:C26697 xref: NCI:C27046 xref: NCI:C27198 xref: NCI:C27299 is_a: DOID:520 ! aortic disease is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:363 name: uterine cancer def: "A female reproductive organ cancer that is located_in the uterus. (DO)" [http://www.cancer.gov/dictionary?CdrID=445094 "DO"] synonym: "CA - cancer of uterus" EXACT [SNOMEDCT_2005_07_31:93718007] synonym: "cancer of the uterus" EXACT [] synonym: "cancer of uterus" EXACT [] synonym: "malignant neoplasm of body of uterus" EXACT [] synonym: "malignant neoplasm of uterus" EXACT [] synonym: "malignant uterine tumor" EXACT [] synonym: "uterine cancers" EXACT [] synonym: "uterus cancer" EXACT [] synonym: "uterus cancers" EXACT [] xref: EFO:0003859 xref: ICD10CM:C55 xref: ICD9CM:179 xref: NCI:C3435 xref: NCI:C3552 is_a: DOID:120 ! female reproductive organ cancer is_a: DOID:9004268 ! Uterine Neoplasms created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:3633 name: beta-mannosidosis alt_id: MESH:C538599 def: "A lysosomal storage disease that has_material_basis_in deficiency of the beta-A-manosidase enzyme resulting in the disruption of N-linked glycoprotein oligosaccharide catabolism. (DO)" [http://en.wikipedia.org/wiki/Beta-mannosidosis "DO"] synonym: "BETA-D-MANNOSIDOSIS" EXACT [] synonym: "beta-mannosidase deficiencies" EXACT [] synonym: "beta Mannosidase Deficiency" EXACT [] synonym: "beta-Mannosidoses" EXACT [] synonym: "Lysosomal beta A Mannosidosis" EXACT [] synonym: "Lysosomal beta-Mannosidase Deficiencies" EXACT [] synonym: "lysosomal beta-mannosidase deficiency" EXACT [] xref: GARD:869 xref: MESH:D044905 xref: MIM:248510 xref: MONDO:0009562 xref: NCI:C84596 is_a: DOID:3211 ! lysosomal storage disease is_a: DOID:9003847 ! Mannosidase Deficiency Diseases [Term] id: DOID:3635 name: congenital myasthenic syndrome alt_id: OMIA:000685 def: "A neuromuscular junction disease that is characterized by weakness and easy fatiguability resulting from a genetic defect at the junction where the nerve stimulates muscle activity that result in muscle weakness and may affect nerve cells (presynaptic), muscle cells (postsynaptic) or the space between nerve and muscle cells (synaptic). (DO)" [http://en.wikipedia.org/wiki/Congenital_myasthenic_syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=590 "DO"] synonym: "congenital myasthenia" EXACT [] synonym: "congenital myasthenia gravi" EXACT [] synonym: "congenital myasthenia gravis" EXACT [] synonym: "congenital myasthenic syndrome, CHRNE-related" NARROW [] synonym: "congenital myasthenic syndrome, dominant/recessive" EXACT [] synonym: "congenital myasthenic syndrome, due to CHRNE" NARROW [] synonym: "congenital myasthenic syndrome, recessive" NARROW [] synonym: "congenital myasthenic syndromes" EXACT [] synonym: "congenital slow-channel myasthenic syndrome" EXACT [] synonym: "congenital slow channel myasthenic syndromes" EXACT [] synonym: "familial limb-girdle myasthenia" EXACT [] synonym: "postsynaptic congenital myasthenic syndromes" NARROW [] synonym: "presynaptic congenital myasthenic syndromes" NARROW [] synonym: "SYNAPTIC CONGENITAL MYASTHENIC SYNDROME" EXACT [] synonym: "SYNAPTIC CONGENITAL MYASTHENIC SYNDROMES" EXACT [] xref: EFO:0020041 xref: GARD:11902 xref: MESH:D020294 xref: MIM:PS601462 xref: MIM:PS610542 xref: NCI:C84647 xref: ORDO:590 is_a: DOID:0080015 ! physical disorder is_a: DOID:439 ! neuromuscular junction disease [Term] id: DOID:3637 name: childhood spinal cord tumor synonym: "childhood spinal cord neoplasm" EXACT [] xref: NCI:C9234 is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:3639 name: spinal cord intramedullary teratoma synonym: "Intramedullary Spinal teratoma" EXACT [NCI2004_11_17:C5428] xref: NCI:C5428 xref: RDO:9004694 is_a: DOID:3640 ! central nervous system teratoma is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:3640 name: central nervous system teratoma def: "A teratoma that is located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21150046 "DO"] synonym: "CNS teratoma" EXACT [] xref: NCI:C5441 is_a: DOID:3307 ! teratoma is_a: DOID:4439 ! central nervous system germ cell tumor created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3641 name: conus medullaris neoplasm synonym: "tumor of Conus Medullaris" EXACT [NCI2004_11_17:C5443] xref: NCI:C5443 xref: RDO:9004687 is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:3642 name: empty sella syndrome def: "A condition when the SELLA TURCICA is not filled with pituitary tissue. The pituitary gland is either compressed, atrophied, or removed. There are two types: (1) primary empty sella is due a defect in the sella diaphragm leading to arachnoid herniation into the sellar space; (2) secondary empty sella is associated with the removal or treatment of PITUITARY NEOPLASMS." [MESH:D004652] synonym: "empty sella syndromes" EXACT [] synonym: "Empty Sella Turcica" EXACT [] synonym: "Empty Sella Turcicas" EXACT [] synonym: "Empty Sella Turcica Syndrome" EXACT [] synonym: "Primary Empty Sella Syndrome" EXACT [] synonym: "secondary empty sella syndrome" EXACT [] xref: EFO:1000914 xref: GARD:6331 xref: MESH:D004652 xref: NCI:C84686 is_a: DOID:225 ! syndrome is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:3643 name: sella turcica neoplasm synonym: "tumor of sella turcica" EXACT [] xref: NCI:C4944 xref: RDO:9004635 is_a: DOID:3842 ! skull base cancer [Term] id: DOID:3644 name: hypothalamic neoplasm def: "Benign and malignant tumors of the HYPOTHALAMUS. Pilocytic astrocytomas and hamartomas are relatively frequent histologic types. Neoplasms of the hypothalamus frequently originate from adjacent structures, including the OPTIC CHIASM, optic nerve (see OPTIC NERVE NEOPLASMS), and pituitary gland (see PITUITARY NEOPLASMS). Relatively frequent clinical manifestations include visual loss, developmental delay, macrocephaly, and precocious puberty. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2051)" [MESH:D007029] synonym: "Benign Hypothalamic Neoplasm" EXACT [] synonym: "Benign Hypothalamic Neoplasms" EXACT [] synonym: "EFO:1000979" EXACT [] synonym: "Hypothalamic Cancer" EXACT [] synonym: "Hypothalamic Cancers" EXACT [] synonym: "Hypothalamic-Chiasmatic Neoplasm" EXACT [] synonym: "Hypothalamic Chiasmatic Neoplasms" EXACT [] synonym: "hypothalamic neoplasms" EXACT [] synonym: "Hypothalamic-Pituitary Neoplasm" EXACT [] synonym: "Hypothalamic Pituitary Neoplasms" EXACT [] synonym: "Hypothalamic Teratoma" EXACT [] synonym: "Hypothalamic Teratomas" EXACT [] synonym: "Hypothalamic Tumor" EXACT [] synonym: "Hypothalamic Tumors" EXACT [] synonym: "Hypothalamo-Neurohypophysial Region Neoplasm" EXACT [] synonym: "Hypothalamo Neurohypophysial Region Neoplasms" EXACT [] synonym: "Hypothalamus Neoplasm" EXACT [] synonym: "Hypothalamus Neoplasms" EXACT [] synonym: "Hypothalamus Tumor" EXACT [] synonym: "Hypothalamus Tumors" EXACT [] synonym: "Malignant Hypothalamic Neoplasm" EXACT [] synonym: "Malignant Hypothalamic Neoplasms" EXACT [] synonym: "neoplasm of the hypothalamus" EXACT [] synonym: "tumor of hypothalamus" EXACT [] xref: EFO:1000979 xref: MESH:D007029 xref: NCI:C3129 is_a: DOID:1931 ! hypothalamic disease is_a: DOID:3843 ! diencephalic neoplasm [Term] id: DOID:3646 name: necrosis of pituitary synonym: "pituitary necrosis" EXACT [] xref: NCI:C27066 xref: RDO:9004129 is_a: DOID:53 ! pituitary gland disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3649 name: pyruvate decarboxylase deficiency alt_id: MIM:312170 alt_id: OMIA:001406 def: "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex. (DO)" [http://en.wikipedia.org/wiki/Pyruvate_dehydrogenase_deficiency "DO", http://ghr.nlm.nih.gov/condition/pyruvate-dehydrogenase-deficiency "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/413/viewAbstract "DO"] synonym: "ataxia with lactic acidosis" EXACT [] synonym: "Ataxia with Lactic Acidosis I" EXACT [] synonym: "deficiency of pyruvic dehydrogenase" EXACT [] synonym: "intermittent ataxia with abnormal pyruvate metabolism" EXACT [] synonym: "intermittent ataxia with pyruvate dehydrogenase deficiency" EXACT [] synonym: "intermittent ataxia with pyruvate dehydrogenase, or decarboxylase deficiency" EXACT [] synonym: "Juvenile Pyruvate Dehydrogenase Complex Deficiency Disease" EXACT [] synonym: "LACTIC ACIDEMIA, THIAMINE-RESPONSIVE" NARROW [] synonym: "Neonatal Pyruvate Dehydrogenase Complex Deficiency Disease" EXACT [] synonym: "PDHAD" EXACT [] synonym: "PDHC Deficiency" EXACT [] synonym: "PDHC Deficiency Disease" EXACT [] synonym: "PDH Deficiency" EXACT [] synonym: "pyruvate dehydrogenase complex deficiency" EXACT [] synonym: "pyruvate dehydrogenase complex deficiency disease" EXACT [] synonym: "pyruvate dehydrogenase deficiency" EXACT [] synonym: "type I ataxia with lactic acidosis" EXACT [] xref: EFO:0007459 xref: GARD:4620 xref: GARD:7513 xref: ICD10CM:E74.4 xref: MESH:D015325 xref: MIM:PS312170 xref: NCI:C103968 xref: ORDO:79243 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:365 name: bladder disease def: "A urinary system disease that is located_in the bladder. (DO)" [http://www.nlm.nih.gov/medlineplus/bladderdiseases.html "DO"] synonym: "bladder diseases" EXACT [] synonym: "urinary bladder disease" EXACT [] synonym: "urinary bladder diseases" EXACT [] xref: EFO:1000018 xref: ICD10CM:N32.9 xref: ICD9CM:596.9 xref: MESH:D001745 xref: NCI:C2900 is_a: DOID:18 ! urinary system disease [Term] id: DOID:3650 name: lactic acidosis def: "A metabolic acidosis characterized by buildup of lactate. (DO)" [http://en.wikipedia.org/wiki/Lactic_acidosis "DO"] synonym: "SEIZURES AND LACTIC ACIDOSIS" NARROW [] xref: EFO:1000036 xref: ICD10CM:E87.20 xref: MESH:D000140 xref: NCI:C98969 is_a: DOID:0050758 ! metabolic acidosis [Term] id: DOID:3651 name: pyruvate carboxylase deficiency disease alt_id: MIM:266150 def: "A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis. (DO)" [http://omim.org/entry/266150 "DO", https://ghr.nlm.nih.gov/condition/pyruvate-carboxylase-deficiency "DO"] synonym: "ataxia with lactic acidosis 2" EXACT [] synonym: "ataxia with lactic acidosis II" EXACT [] synonym: "deficiency of pyruvic carboxylase" EXACT [] synonym: "PC deficiency" EXACT [] synonym: "pyruvate carboxylase deficiency" EXACT [] synonym: "type II ataxia with lactic acidosis" EXACT [] xref: EFO:1001142 xref: MESH:D015324 xref: NCI:C85040 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:3652 name: Leigh disease def: "A cytochrome-c oxidase deficiency disease characterized by progressive loss of mental and movement abilities. Symptoms usually begin between ages of three months and two years and include loss of appetite, vomiting, irritability and seizure activity. (DO)" [http://en.wikipedia.org/wiki/Leigh%27s_disease "DO", http://ghr.nlm.nih.gov/condition/leigh-syndrome "DO", https://rarediseases.org/rare-diseases/cytochrome-c-oxidase-deficiency/ "DO", https://rarediseases.org/rare-diseases/leigh-syndrome/ "DO"] synonym: "infantile Leigh disease" EXACT [] synonym: "infantile necrotizing encephalomyelopathy" EXACT [] synonym: "infantile subacute necrotizing encephalopathy" EXACT [] synonym: "Juvenile Leigh Disease" EXACT [] synonym: "juvenile subacute necrotizing encephalomyelopathy" EXACT [] synonym: "Juvenile Subacute Necrotizing Encephalopathy" EXACT [] synonym: "Leigh's Disease" EXACT [] synonym: "Leighs Disease" EXACT [] synonym: "Leigh Syndrome" EXACT [] synonym: "LS" EXACT [] synonym: "subacute necrotising encephalopathy of Leigh" EXACT [] synonym: "subacute necrotizing encephalomyelitides" EXACT [] synonym: "Subacute Necrotizing Encephalomyelitis" EXACT [] synonym: "Subacute Necrotizing Encephalomyelitis, Infantile" EXACT [] synonym: "Subacute Necrotizing Encephalomyelopathies" EXACT [] synonym: "subacute necrotizing encephalomyelopathy" EXACT [] synonym: "subacute necrotizing encephalopathies" EXACT [] synonym: "subacute necrotizing encephalopathy" EXACT [] xref: GARD:6877 xref: ICD10CM:G31.82 xref: MESH:D007888 xref: MIM:256000 xref: MONDO:0009723 xref: NCI:C84814 xref: OMIA:001097 xref: ORDO:506 is_a: DOID:3762 ! cytochrome-c oxidase deficiency disease is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:3659 name: sialuria alt_id: MIM:269921 alt_id: MIM:604369 def: "A lysosomal storage disease characterized by increased sialic acid in the urine. (DO)" [http://en.wikipedia.org/wiki/Sialuria "DO", http://www.ncbi.nlm.nih.gov/books/NBK1164/ "DO", http://www.omim.org/entry/269921 "DO"] synonym: "Finnish Type Sialuria" EXACT [] synonym: "Finnish type sialurias" EXACT [] synonym: "NSD" EXACT [] synonym: "Salla Disease" EXACT [] synonym: "SD" EXACT [] synonym: "Sialic Acid Storage Disease" EXACT [] synonym: "Sialic Acid Storage Disease, Finnish Type" EXACT [] synonym: "sialurias" EXACT [] xref: MESH:D029461 xref: NCI:C85067 is_a: DOID:9008012 ! Lysosomal Storage Diseases, Nervous System [Term] id: DOID:3660 name: wheat allergy def: "A food allergy that develops_from exposure to and particularly consumption of wheat, and has_symptom that are both gastrointestinal and nongastrointestinal in nature, such as diarrhea, mouth and throat irritation, headache, hives, skin rashes, and anaphylaxis. (DO)" [https://www.mayoclinic.org/diseases-conditions/wheat-allergy/symptoms-causes/syc-20378897 "DO"] synonym: "allergy to wheat" EXACT [] synonym: "wheat allergic reaction" EXACT [] synonym: "Wheat Allergies" EXACT [] synonym: "wheat hypersensitivities" EXACT [] synonym: "wheat hypersensitivity" EXACT [] xref: EFO:1001243 xref: MESH:D021182 is_a: DOID:3044 ! food allergy [Term] id: DOID:3663 name: cutaneous mastocytosis def: "Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN." [MESH:D034701] synonym: "bullous mastocytoses" EXACT [] synonym: "Bullous Mastocytosis" EXACT [] synonym: "CM" EXACT [] synonym: "Cutaneous Mastocytoses" EXACT [] synonym: "EFO:1000886" EXACT [] synonym: "Skin Mastocytoses" EXACT [] synonym: "skin mastocytosis" EXACT [] xref: EFO:1000886 xref: GARD:7842 xref: MESH:D034701 xref: NCI:C7137 is_a: DOID:350 ! mastocytosis [Term] id: DOID:3664 name: mast cell neoplasm def: "A hematologic cancer that has_material_basis_in mast cells. (DO)" [http://en.wikipedia.org/wiki/Mastocytoma "DO", http://www.cancer.gov/dictionary?CdrID=410729 "DO"] synonym: "EFO:0009000" EXACT [] synonym: "mast cell proliferative disease" EXACT [] synonym: "mast cell tumor" EXACT [] synonym: "mastocytoma" EXACT [] xref: EFO:0009000 xref: NCI:C129077 xref: NCI:C21632 xref: NCI:C9295 is_a: DOID:0050687 ! cell type cancer is_a: DOID:2531 ! hematologic cancer [Term] id: DOID:3665 name: diffuse cutaneous mastocytosis xref: GARD:12686 xref: ICD10CM:D47.01 xref: NCI:C3218 is_a: DOID:3663 ! cutaneous mastocytosis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:3666 name: solitary mastocytoma of the skin def: "A mast cell neoplasm that is characterized by collections of mast cells with a single or multiple (usually five or fewer individual) orange-brown to red-brown plaques or nodules ranging from 0.5 to 3.5 cm in diameter. (DO)" [https://www.sciencedirect.com/science/article/pii/B9781416030317000127 "DO"] synonym: "cutaneous solitary mastocytoma" EXACT [] synonym: "EFO:1001844" EXACT [] synonym: "skin mastocytoma" EXACT [] synonym: "solitary mastocytoma" EXACT [] synonym: "solitary mastocytoma of skin" EXACT [] xref: EFO:1001844 xref: MESH:D054705 xref: NCI:C7138 is_a: DOID:3663 ! cutaneous mastocytosis is_a: DOID:4659 ! extracutaneous mastocytoma [Term] id: DOID:3669 name: intermittent claudication def: "A symptom complex characterized by pain and weakness in SKELETAL MUSCLE group associated with exercise, such as leg pain and weakness brought on by walking. Such muscle limpness disappears after a brief rest and is often relates to arterial STENOSIS; muscle ISCHEMIA; and accumulation of LACTATE." [MESH:D007383] synonym: "Charcot's syndrome" EXACT [] synonym: "intermittent vascular claudication" EXACT [] xref: EFO:0003876 xref: ICD10CM:I73.9 xref: MESH:D007383 is_a: DOID:2349 ! arteriosclerosis is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:367 name: olfactory nerve disease def: "A brain disease that is characterized by nerve injury located_in olfactory nerve, occurring as a result of normal aging, trauma, mass lesion or other insult, and has_symptom impaired sense of smell, has_symptom anosmia or loss of smell. (DO)" [https://en.wikipedia.org/wiki/Olfactory_nerve "DO"] synonym: "Cranial Nerve I Diseases" EXACT [] synonym: "Cranial Nerve I Disorders" EXACT [] synonym: "disorder of 1st nerve" EXACT [] synonym: "disorder of olfactory [1st] nerve" EXACT [] synonym: "disorder of olfactory nerve" EXACT [] synonym: "First Cranial Nerve Diseases" EXACT [] synonym: "olfactory nerve diseases" EXACT [] xref: ICD10CM:G52.0 xref: ICD9CM:352.0 xref: MESH:D020431 xref: NCI:C27210 is_a: DOID:3418 ! glossopharyngeal nerve disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:3671 name: pericoronitis def: "Inflammation of the gingiva surrounding the crown of a tooth." [MESH:D010497] synonym: "Pericoronitides" EXACT [] xref: EFO:1001098 xref: MESH:D010497 is_a: DOID:1483 ! gingival disease [Term] id: DOID:3672 name: rhabdoid cancer def: "A childhood kidney neoplasm that is located_in the kidney, liver, muscle, heart, lung, soft tissues, skin and central nervous system. (DO)" [https://rarediseases.info.nih.gov/diseases/7572/rhabdoid-tumor "DO"] synonym: "EFO:0005701" EXACT [] synonym: "malignant rhabdoid tumour" EXACT [] synonym: "rhabdoid sarcoma" EXACT [] synonym: "rhabdoid tumor" EXACT [] synonym: "rhabdoid tumors" EXACT [] xref: EFO:0005701 xref: GARD:7572 xref: MESH:D018335 xref: MONDO:0002728 xref: NCI:C3808 xref: ORDO:69077 is_a: DOID:3675 ! childhood kidney cancer is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:3674 name: kidney rhabdoid cancer def: "A embryonal cancer that is located in the kidney. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32853941/ "DO"] synonym: "EFO:1000512" EXACT [] synonym: "kidney rhabdoid tumor" EXACT [] synonym: "renal rhabdoid tumor" EXACT [] synonym: "rhabdoid tumor of the kidney" EXACT [] xref: EFO:1000512 xref: NCI:C8715 is_a: DOID:3672 ! rhabdoid cancer created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3675 name: childhood kidney cancer synonym: "pediatric renal tumor" EXACT [NCI2004_11_17:C6563] xref: ICD-O:M8000/3 xref: NCI:C6563 xref: RDO:9005107 is_a: DOID:263 ! kidney cancer created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:3677 name: pulmonary plasma cell granuloma def: "A lung disease that is characterized by an inflammatory lesion that is composed of plasma cells and fibrous tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/2336294/ "DO"] synonym: "Inflammatory Pseudotumor of Lung" EXACT [] synonym: "Inflammatory Pulmonary Pseudotumor" EXACT [] synonym: "Inflammatory Pulmonary Pseudotumors" EXACT [] synonym: "lymphocytic pseudotumor of lung" EXACT [] synonym: "Plasma Cell Granuloma of Lung" EXACT [] synonym: "sclerosing hemangiocytoma of lung" EXACT [] xref: EFO:1001135 xref: MESH:D016726 is_a: DOID:850 ! lung disease [Term] id: DOID:368 name: cerebrum cancer def: "A supratentorial cancer that is located_in the cerebrum. (DO)" [http://en.wikipedia.org/wiki/Cerebrum "DO"] synonym: "cerebral cancer" EXACT [] synonym: "neoplasm of cerebrum" EXACT [] synonym: "tumor of cerebrum" EXACT [] xref: ICD9CM:191.8 xref: NCI:C4874 is_a: DOID:1659 ! supratentorial cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3683 name: lung benign neoplasm synonym: "tumor of the lung" EXACT [NCI2004_11_17:C3200] xref: NCI:C3200 xref: RDO:9001993 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:9005172 ! Lung Neoplasms created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:3687 name: MELAS syndrome alt_id: MIM:540000 def: "A mitochondrial encephalomyopathy that is characterized by mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes, has_symptom myalgia, motor weakness, headaches, seizures, and stroke-like episodes with acute hemiparesis and severe headaches, and develops_from mutation in mitochondrial genes including MT-TL1, which encodes tRNA proteins. (DO)" [https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes#genes "DO"] synonym: "JUVENILE MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS AND STROKE" EXACT [] synonym: "MELAS" EXACT [] synonym: "Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes" EXACT [] synonym: "Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes" EXACT [] synonym: "mitochondrial myopathy-encephalopathy-lactic acidosis-stroke" EXACT [] synonym: "Mitochondrial Myopathy, Lactic Acidosis, Stroke-Like Episode" EXACT [] synonym: "PARKINSONISM/MELAS OVERLAP SYNDROME" NARROW [] xref: EFO:0000192 xref: ICD10CM:E88.41 xref: MESH:D017241 xref: MONDO:0010789 xref: NCI:C84885 is_a: DOID:0112313 ! brain small vessel disease is_a: DOID:225 ! syndrome is_a: DOID:890 ! mitochondrial encephalomyopathy is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:3688 name: plexopathy xref: EFO:0009559 xref: NCI:C27744 is_a: DOID:1289 ! neurodegenerative disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:3689 name: brachial plexus neuritis alt_id: MIM:162100 def: "A brachial plexus neuropathy that affects the chest, shoulder, arm and hand. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/brachial-neuritis "DO"] synonym: "Amyotrophic Neuralgia" EXACT [] synonym: "amyotrophic neuralgias" EXACT [] synonym: "Amyotrophy, Hereditary Neuralgic, with Predilection for Brachial Plexus" EXACT [] synonym: "Brachial Neuralgia" EXACT [] synonym: "brachial neuralgias" EXACT [] synonym: "brachial neuritides" EXACT [] synonym: "Brachial Neuritis" EXACT [] synonym: "Brachial Plexus Neuritides" EXACT [] synonym: "Cervico Brachial Neuralgia" EXACT [] synonym: "Cervicobrachial Neuralgia" EXACT [] synonym: "Cervico-Brachial Neuralgias" EXACT [] synonym: "Cervicobrachial Neuralgias" EXACT [] synonym: "Familial Brachial Plexus Neuritis" EXACT [] synonym: "Hereditary Brachial Plexus Neuropathy" EXACT [] synonym: "Hereditary Neuralgic Amyotrophies" EXACT [] synonym: "Hereditary Neuralgic Amyotrophy" EXACT [] synonym: "HEREDITARY NEURALGIC AMYOTROPHY (HNA)" EXACT [] synonym: "HEREDITARY SODIUM CHANNELOPATHY-RELATED SMALL FIBERS NEUROPATHY" BROAD [] synonym: "Heredofamilial Neuritis with Brachial Plexus Predilection" EXACT [] synonym: "HNA" EXACT [] synonym: "NAPB" EXACT [] synonym: "neuritis with brachial predilection" EXACT [] synonym: "Parsonage Aldren Turner Syndrome" EXACT [] synonym: "Parsonage Turner Syndrome" EXACT [] synonym: "shoulder girdle neuropathies" EXACT [] synonym: "shoulder girdle neuropathy" EXACT [] xref: EFO:1000843 xref: ICD10CM:G54.5 xref: MESH:D020968 xref: NCI:C84600 is_a: DOID:1803 ! neuritis is_a: DOID:225 ! syndrome is_a: DOID:3690 ! brachial plexus neuropathy [Term] id: DOID:369 name: olfactory neuroblastoma def: "A malignant olfactory neuroblastoma arising from the olfactory epithelium of the superior nasal cavity and cribriform plate. It is uncommon (3% of nasal tumors) and rarely is associated with the production of excess hormones (e.g., SIADH, Cushing Syndrome). It has a high propensity for multiple local recurrences and bony metastases. (From Holland et al., Cancer Medicine, 3rd ed, p1245; J Laryngol Otol 1998 Jul;112(7):628-33)" [MESH:D018304] synonym: "Aesthesioneuroblastoma" EXACT [] synonym: "aesthesioneuroblastomas" EXACT [] synonym: "asthesioneuroblastoma" EXACT [] synonym: "Esthesioneuroblastoma" EXACT [] synonym: "Esthesioneuroblastomas" EXACT [] synonym: "esthesioneuroepithelioma" EXACT [] synonym: "olfactory esthesioneuroblastoma" EXACT [] synonym: "Olfactory Esthesioneuroblastomas" EXACT [] synonym: "Olfactory Neuroblastomas" EXACT [] synonym: "paranasal sinus nasal cavity esthesioneuroblastoma" EXACT [] synonym: "paranasal sinus olfactory neuroblastoma" EXACT [] xref: EFO:1000407 xref: GARD:2197 xref: ICDO:9522/3 xref: MESH:D018304 xref: NCI:C3789 xref: NCI:C6016 is_a: DOID:367 ! olfactory nerve disease is_a: DOID:370 ! malignant olfactory nerve neoplasm is_a: DOID:769 ! neuroblastoma [Term] id: DOID:3690 name: brachial plexus neuropathy def: "A peripheral nervous system disease that is characterized by damage to nerves in the upper shoulder of the brachial plexus, an area where nerves from the spinal cord branch into the arm nerves. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30688233/ "DO", https://www.mayoclinic.org/diseases-conditions/peripheral-neuropathy/symptoms-causes/syc-20352061 "DO"] synonym: "brachial plexopathies" EXACT [] synonym: "Brachial Plexopathy" EXACT [] synonym: "Brachial Plexus Disease" EXACT [] synonym: "brachial plexus diseases" EXACT [] synonym: "Brachial Plexus Disorder" EXACT [] synonym: "brachial plexus disorders" EXACT [] synonym: "Brachial Plexus Neuropathies" EXACT [] synonym: "Dejerine Klumpke Palsy" EXACT [] synonym: "Erb's Palsies" EXACT [] synonym: "Erb's Palsy" EXACT [] synonym: "Erb-Duchenne Paralyses" EXACT [] synonym: "Erb Duchenne Paralysis" EXACT [] synonym: "Erb Palsy" EXACT [] synonym: "Erb Paralyses" EXACT [] synonym: "Erb Paralysis" EXACT [] synonym: "Erbs Palsy" EXACT [] synonym: "Klumpke's Palsy" EXACT [] synonym: "Klumpke Palsy" EXACT [] synonym: "Klumpke Paralysis" EXACT [] synonym: "Klumpkes Palsy" EXACT [] synonym: "Lower Brachial Plexus Neuropathy" EXACT [] synonym: "Lower Brachial Plexus Palsy" EXACT [] synonym: "Middle Brachial Plexus Neuropathy" EXACT [] synonym: "Paralysis of the Lower Brachial Plexus" EXACT [] synonym: "upper brachial plexus neuropathy" EXACT [] xref: EFO:1000844 xref: ICD10CM:G54.0 xref: MESH:D020516 xref: NCI:C27194 is_a: DOID:870 ! neuropathy [Term] id: DOID:3691 name: anal colloid adenocarcinoma def: "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal colloid. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "mucinous adenocarcinoma of anus" EXACT [NCI2004_11_17:C5606] xref: NCI:C5606 xref: RDO:9004071 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3447 ! anus adenocarcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3692 name: anal canal adenocarcinoma def: "An anal canal cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of anal canal" EXACT [] synonym: "adenocarcinoma of the anal canal" EXACT [] xref: NCI:C7471 is_a: DOID:0050913 ! large intestine adenocarcinoma is_a: DOID:6126 ! anal canal carcinoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:3693 name: ampulla of Vater mucinous adenocarcinoma xref: NCI:C27416 is_a: DOID:3502 ! ampulla of Vater adenocarcinoma is_a: DOID:3698 ! bile duct mucinous adenocarcinoma created_by: rgd creation_date: 2017-09-26T00:00:00Z [Term] id: DOID:3696 name: acute sanguinous otitis media def: "A acute transudative otitis media which involves bloody effusion. (DO)" [http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false "DO"] xref: ICD9CM:381.03 xref: RDO:9003857 is_a: DOID:3697 ! acute transudative otitis media [Term] id: DOID:3697 name: acute transudative otitis media def: "A non-suppurative otitis media and eustachian tube disorder with a sudden onset and a short course. (DO)" [http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/1195971 "DO"] synonym: "acute non-suppurative otitis media" EXACT [] synonym: "acute nonsuppurative otitis media" EXACT [] synonym: "acute otitis media with effusion" EXACT [] synonym: "acute secretory otitis media" EXACT [] xref: ICD9CM:381.0 is_a: DOID:11180 ! non-suppurative otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3698 name: bile duct mucinous adenocarcinoma synonym: "mucinous carcinoma of the bile duct" EXACT [] xref: NCI:C5846 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:4896 ! bile duct adenocarcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3699 name: uterine ligament mucinous adenocarcinoma def: "A uterine ligament adenocarcinoma that produces mucin. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40137 "DO"] xref: NCI:C40137 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3700 ! uterine ligament adenocarcinoma [Term] id: DOID:37 name: skin disease def: "An integumentary system disease that is located_in skin. (DO)" [http://en.wikipedia.org/wiki/Skin_disease "DO"] synonym: "dermatoses" EXACT [] synonym: "dermatosis" EXACT [] synonym: "disturbance of skin sensation" NARROW [] synonym: "genodermatosis" EXACT [] synonym: "neonatal erythema toxicum" NARROW [] synonym: "skin and subcutaneous tissue disease" EXACT [] synonym: "skin diseases" EXACT [] synonym: "skin disorder" EXACT [] xref: EFO:0000701 xref: EFO:0009522 xref: EFO:0010687 xref: ICD9CM:702 xref: MESH:D012871 xref: NCI:C156032 xref: NCI:C27554 xref: NCI:C3371 is_a: DOID:0050155 ! sensory system disease is_a: DOID:16 ! integumentary system disease is_a: DOID:9003003 ! Skin and Connective Tissue Diseases [Term] id: DOID:370 name: malignant olfactory nerve neoplasm synonym: "malignant olfactory nerve tumor" EXACT [] synonym: "malignant tumor of olfactory nerve" EXACT [] synonym: "primary malignant neoplasm of olfactory nerve" EXACT [] xref: ICD10CM:C72.2 xref: NCI:C4768 is_a: DOID:2815 ! cranial nerve malignant neoplasm created_by: mtutaj creation_date: 2021-10-01T11:59:17Z [Term] id: DOID:3700 name: uterine ligament adenocarcinoma def: "A uterine ligament cancer that is characterized as a mixture of carcinoma and sarcoma and has_material_basis_in epithelial tissue and has_material_basis_in connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26699941 "DO"] xref: NCI:C40135 is_a: DOID:5727 ! uterine ligament cancer [Term] id: DOID:3701 name: cervical mucinous adenocarcinoma def: "A cervical adenocarcinoma that derives_from mucin producing epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24199926 "DO"] xref: NCI:C36095 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:3702 name: cervical adenocarcinoma def: "A cervix carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma cervix uteri" EXACT [] synonym: "adenocarcinoma of cervix" EXACT [] synonym: "adenocarcinoma of the uterine cervix" EXACT [] synonym: "EFO:0001416" EXACT [] xref: EFO:0001416 xref: NCI:C4029 is_a: DOID:2893 ! cervix carcinoma is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:3703 name: prostate colloid adenocarcinoma def: "A prostate adenocarcinoma that produces mucin and is characterized by non-cystic structure. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11145249 "DO"] synonym: "acinar colloid prostate adenocarcinoma" EXACT [] synonym: "acinar prostate mucinous adenocarcinoma" EXACT [] synonym: "colloid adenocarcinoma of prostate" EXACT [] synonym: "colloidal adenocarcinoma of prostate" EXACT [] synonym: "EFO:1000065" EXACT [] synonym: "mucinous adenocarcinoma of prostate" EXACT [] synonym: "prostate acinar mucinous adenocarcinoma" EXACT [] xref: EFO:1000065 xref: NCI:C5537 is_a: DOID:2526 ! prostate adenocarcinoma is_a: DOID:3030 ! mucinous adenocarcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:3704 name: fallopian tube mucinous adenocarcinoma def: "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4987967/ "DO"] xref: NCI:C40103 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3706 ! fallopian tube adenocarcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:3705 name: fallopian tube mucinous tumor def: "A fallopian tube benign neoplasm that produces mucin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26894303/ "DO"] xref: NCI:C40109 is_a: DOID:0060111 ! fallopian tube benign neoplasm created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:3706 name: fallopian tube adenocarcinoma def: "A fallopian tube carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6265] xref: NCI:C6265 xref: RDO:9002515 is_a: DOID:1963 ! fallopian tube carcinoma is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:3707 name: endometrial mucinous adenocarcinoma def: "An endometrial adenocarcinoma that derives_from epithelial cells originating in glandular tissue, which produce mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22569105 "DO"] synonym: "EFO:1000236" EXACT [] synonym: "uterine corpus mucinous adenocarcinoma" EXACT [] xref: EFO:1000236 xref: NCI:C40144 is_a: DOID:2870 ! endometrial adenocarcinoma is_a: DOID:3030 ! mucinous adenocarcinoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:3709 name: rectum mucinous adenocarcinoma def: "A rectal adenocarcinoma that produces mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110493/ "DO"] synonym: "colloidal adenocarcinoma of rectum" EXACT [] xref: NCI:C7973 is_a: DOID:1996 ! rectum adenocarcinoma is_a: DOID:3030 ! mucinous adenocarcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:371 name: extracranial neuroblastoma xref: NCI:C5437 is_a: DOID:769 ! neuroblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3710 name: bladder colloid adenocarcinoma xref: NCI:C39837 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:3711 ! bladder adenocarcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:3711 name: bladder adenocarcinoma def: "A bladder carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of bladder" RELATED [] synonym: "adenocarcinoma of the urinary bladder" RELATED [] synonym: "bladder adenocarcinoma, Not Otherwise Specified" EXACT [NCI2004_11_17:C39836] synonym: "EFO:1000125" EXACT [] xref: EFO:1000125 xref: NCI:C39836 xref: NCI:C4032 xref: RDO:9001956 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4007 ! bladder carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:3713 name: ovary adenocarcinoma def: "An ovarian carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of the ovary" RELATED [] synonym: "EFO:0006460" EXACT [] synonym: "ovarian adenoacanthoma" EXACT [] synonym: "ovarian adenocarcinoma" EXACT [] xref: EFO:0006460 xref: NCI:C129858 xref: NCI:C7700 xref: RDO:9002507 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:3716 name: mucinous stomach adenocarcinoma synonym: "EFO:1000386" EXACT [] synonym: "mucinous adenocarcinoma of the stomach" EXACT [] xref: EFO:1000386 xref: NCI:C5248 is_a: DOID:3030 ! mucinous adenocarcinoma is_a: DOID:6217 ! gastric diffuse adenocarcinoma created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:3717 name: gastric adenocarcinoma def: "A stomach carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of stomach" EXACT [] synonym: "cancer of stomach, adenocarcinoma" EXACT [] synonym: "EFO:0000503" EXACT [] synonym: "gastric intestinal type adenocarcinoma" NARROW [] synonym: "stomach adenocarcinoma" EXACT [] xref: EFO:0000503 xref: EFO:0000504 xref: NCI:C24227 xref: NCI:C4004 is_a: DOID:299 ! adenocarcinoma is_a: DOID:5517 ! stomach carcinoma created_by: rgd creation_date: 2017-06-09T00:00:00Z [Term] id: DOID:3720 name: extramedullary plasmacytoma synonym: "extraosseous plasmacytoma" EXACT [] xref: ICD10CM:C90.2 xref: NCI:C4002 is_a: DOID:3721 ! plasmacytoma created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:3721 name: plasmacytoma def: "Any discrete, presumably solitary, mass of neoplastic PLASMA CELLS either in BONE MARROW or various extramedullary sites." [MESH:D010954] synonym: "EFO:0006738" EXACT [] synonym: "Plasma Cell Tumor" EXACT [] synonym: "Plasma Cell Tumors" EXACT [] synonym: "Plasmacytomas" EXACT [] synonym: "Plasmocytoma" EXACT [] synonym: "Plasmocytomas" EXACT [] synonym: "solitary myeloma" EXACT [] synonym: "solitary plasmacytoma" EXACT [] xref: EFO:0006738 xref: ICD10CM:C90.3 xref: ICDO:9731/3 xref: MESH:D010954 xref: NCI:C21631 xref: NCI:C6932 xref: NCI:C9349 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:6536 ! plasma cell neoplasm [Term] id: DOID:3722 name: solitary osseous plasmacytoma synonym: "isolated osseous plasmacytoma" EXACT [] synonym: "solitary plasmacytoma of bone" EXACT [] xref: NCI:C7812 is_a: DOID:3721 ! plasmacytoma created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:3723 name: solitary plasmacytoma of chest wall synonym: "solitary plasmacytoma of the chest wall" EXACT [] xref: NCI:C6711 is_a: DOID:3721 ! plasmacytoma is_a: DOID:6758 ! chest wall lymphoma created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:3728 name: acute allergic sanguinous otitis media def: "A acute sanguinous otitis media caused by an allergen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15301306 "DO"] xref: ICD9CM:381.06 is_a: DOID:1205 ! allergic disease is_a: DOID:3696 ! acute sanguinous otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3733 name: theileriasis def: "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks. (DO)" [http://en.wikipedia.org/wiki/East_Coast_fever "DO"] synonym: "Corridor Disease" EXACT [] synonym: "East Coast Fever" EXACT [] synonym: "infection by Theileria" EXACT [] synonym: "Theileriases" EXACT [] synonym: "Theilerioses" EXACT [] synonym: "Theileriosis" EXACT [] xref: EFO:0007506 xref: MESH:D013801 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004157 ! Protozoan Infections, Animal is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:3737 name: verrucous carcinoma def: "A squamous cell carcinoma that is a diffuse, papillary, non metastasizing, well differentiated, malignant neoplasm of epidermis or oral epithelium. (DO)" [http://en.wikipedia.org/wiki/Verrucous_carcinoma "DO"] synonym: "EFO:0007535" EXACT [] synonym: "verrucous carcinomas" EXACT [] synonym: "verrucous squamous carcinoma" EXACT [] synonym: "verrucous squamous cell carcinoma" EXACT [] synonym: "Warty carcinoma" EXACT [] xref: EFO:0007535 xref: ICDO:8051/3 xref: MESH:D018289 xref: NCI:C3781 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:305 ! carcinoma is_a: DOID:3168 ! squamous cell neoplasm [Term] id: DOID:374 name: nutrition disease def: "An acquired metabolic disease that is characterized by an insufficient intake of food or of certain nutrients, by an inability of the body to absorb and use nutrients, or by overconsumption of certain foods. (DO)" [http://www.who.int/topics/nutrition_disorders/en/ "DO"] synonym: "Nutritional Disorder" EXACT [] synonym: "nutritional disorders" EXACT [] synonym: "Nutrition Disorder" EXACT [] synonym: "nutrition disorders" EXACT [] xref: EFO:0001069 xref: MESH:D009748 xref: NCI:C26836 is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:9008231 ! Nutritional and Metabolic Diseases [Term] id: DOID:3740 name: vulva verrucous carcinoma def: "A vulva squamous cell carcinoma that is characterized as locally invasive, with warty-appearing, highly differentiated, and variably keratinized lesions. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5429114/ "DO"] synonym: "verrucous carcinoma of vulva" EXACT [] xref: NCI:C6383 is_a: DOID:2101 ! vulva squamous cell carcinoma is_a: DOID:3737 ! verrucous carcinoma is_a: DOID:5522 ! basaloid squamous cell carcinoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:3741 name: bladder verrucous squamous cell carcinoma xref: NCI:C39832 is_a: DOID:3737 ! verrucous carcinoma is_a: DOID:3742 ! bladder squamous cell carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:3742 name: bladder squamous cell carcinoma def: "A carcinoma of bladder that is manifested in squamous cells of the bladder. (DO)" [http://www.cancer.gov/cancertopics/types/bladder "DO"] synonym: "EFO:1000130" EXACT [] synonym: "epidermoid carcinoma of the urinary bladder" RELATED [] synonym: "squamous cell carcinoma of bladder" RELATED [] xref: EFO:1000130 xref: NCI:C4031 xref: RDO:9001958 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4007 ! bladder carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:3743 name: cervical verrucous carcinoma def: "A cervical squamous cell carcinoma that is characterized by a hyperkeratotic, undulating, warty surface and invades the underlying stroma in the form of bulbous epithelial pegs with a pushing border, broad papillae that lack fibrovascular cores and the absence of koilocytosis. It shows no more than minimal nuclear atypia and does not exhibit infiltrative growth. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18214065 "DO"] xref: NCI:C40190 is_a: DOID:3737 ! verrucous carcinoma is_a: DOID:3744 ! cervical squamous cell carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3744 name: cervical squamous cell carcinoma def: "A cervix carcinoma that has_material_basis_in squamous cells of the cervix. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO", http://www.cancer.gov/dictionary?CdrID=752829 "DO"] synonym: "EFO:1000172" EXACT [] synonym: "Squamous Cell Carcinoma Of Cervix" EXACT [] synonym: "squamous cell carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C4028] xref: EFO:1000022 xref: EFO:1000172 xref: NCI:C24077 xref: NCI:C4028 xref: RDO:9001097 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:3747 name: esophagus verrucous carcinoma synonym: "oesophagus verrucous carcinoma" EXACT [] synonym: "verrucous carcinoma of esophagus" EXACT [] synonym: "verrucous carcinoma of oesophagus" EXACT [] synonym: "verrucous carcinoma of the esophagus" EXACT [] xref: NCI:C27420 is_a: DOID:3737 ! verrucous carcinoma is_a: DOID:3748 ! esophagus squamous cell carcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3748 name: esophagus squamous cell carcinoma alt_id: MIM:133239 def: "An esophageal carcinoma that derives_from epithelial squamous cells located_in the esophagus. (DO)" [http://www.cancer.gov/cancertopics/types/esophageal "DO"] synonym: "EFO:0005922" EXACT [] synonym: "ESCC, SUSCEPTIBILITY TO" RELATED [] synonym: "esophageal squamous cell carcinoma" EXACT [] synonym: "Esophageal squamous cell carcinoma, somatic" NARROW [] synonym: "LZTS1-RELATED CONDITION" NARROW [] synonym: "oesophagus squamous cell carcinoma" EXACT [] synonym: "SCC of esophagus" EXACT [] synonym: "SCC of oesophagus" EXACT [] synonym: "squamous cell carcinoma of esophagus" EXACT [] xref: EFO:0005922 xref: MESH:D000077277 xref: NCI:C191763 xref: NCI:C4024 is_a: DOID:1107 ! esophageal carcinoma is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma [Term] id: DOID:3749 name: urethral verrucous carcinoma xref: NCI:C39874 is_a: DOID:3737 ! verrucous carcinoma is_a: DOID:3750 ! urethra squamous cell carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:3750 name: urethra squamous cell carcinoma def: "A cancer of urethra that shows squamous cell differentiation. (DO)" [http://en.wikipedia.org/wiki/Squamous_cell_carcinoma "DO"] synonym: "urethral Epidermoid carcinoma" RELATED [] xref: NCI:C6165 xref: RDO:9002366 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:734 ! urethra cancer created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:3751 name: plantar verrucous skin carcinoma xref: NCI:C6811 is_a: DOID:3151 ! skin squamous cell carcinoma is_a: DOID:3737 ! verrucous carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:3752 name: larynx verrucous carcinoma synonym: "verrucous carcinoma of the larynx" EXACT [] xref: NCI:C8188 is_a: DOID:2876 ! laryngeal squamous cell carcinoma is_a: DOID:3737 ! verrucous carcinoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:3753 name: Hermansky-Pudlak syndrome def: "A syndrome characterized by oculocutaneous albinism, bleeding problems due to platelet storage pool defect, visual impairment and lysosomal accumulation of ceroid lipofuscin. (DO)" [http://en.wikipedia.org/wiki/Hermansky%E2%80%93Pudlak_syndrome "DO", http://ghr.nlm.nih.gov/condition/hermansky-pudlak-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/946/viewAbstract "DO"] synonym: "Hermanski-Pudlak syndrome" EXACT [] synonym: "HPS" EXACT [] xref: GARD:6643 xref: ICD10CM:E70.331 xref: MESH:D022861 xref: MIM:PS203300 xref: NCI:C37261 xref: ORDO:231531 xref: ORDO:231537 xref: ORDO:280663 xref: ORDO:79430 is_a: DOID:2223 ! platelet storage pool deficiency is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9006283 ! Syndromic Oculocutaneous Albinism [Term] id: DOID:3755 name: antithrombin III deficiency alt_id: MIM:613118 def: "A thrombophilia that is characterized by the tendency to form clots in the veins. (DO)" [http://en.wikipedia.org/wiki/Antithrombin_III_deficiency "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/99/viewAbstract "DO"] synonym: "antithrombin 3 deficiencies" EXACT [] synonym: "Antithrombin 3 Deficiency" EXACT [] synonym: "ANTITHROMBIN DEFICIENCY" EXACT [] synonym: "Antithrombin III Deficiencies" EXACT [] synonym: "AT3D" EXACT [] synonym: "AT III deficiency" EXACT [] synonym: "Congenital Antithrombin III Deficiency" EXACT [] synonym: "Hereditary Antithrombin Deficiency" EXACT [] synonym: "hereditary thrombophilia due to congenital antithrombin deficiency" EXACT [] synonym: "REDUCED ANTITHROMBIN III ACTIVITY" EXACT [] synonym: "THPH7" EXACT [] synonym: "thrombophilia due to antithrombin III deficiency" EXACT [] xref: MESH:D020152 xref: NCI:C98815 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2452 ! thrombophilia is_a: DOID:620 ! blood protein disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:3756 name: protein C deficiency def: "A thrombophilia that is characterized by recurrent venous thrombosis and that has_material_basis_in heterozygous mutation in the PROC gene on chromosome 2q14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10942114/ "DO"] synonym: "Hereditary Thrombophilia Due To Protein C Deficiency" EXACT [] synonym: "Protein C Deficiencies" EXACT [] xref: EFO:0009316 xref: GARD:4521 xref: MESH:D020151 xref: NCI:C99025 xref: ORDO:745 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2452 ! thrombophilia is_a: DOID:620 ! blood protein disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:3762 name: cytochrome-c oxidase deficiency disease def: "A mitochondrial metabolism disease that is characterized by deficiency of cytochrome c oxidase, myopathy, hepatomegaly, hypertrophic cardiomyopathy, lactic acidosis, and Leigh syndrome, and is caused by mutations related to oxidative phosphorylation. (DO)" [https://en.wikipedia.org/wiki/Cytochrome_c_oxidase#Genetic_defects_and_disorders "DO", https://ghr.nlm.nih.gov/condition/cytochrome-c-oxidase-deficiency "DO", https://www.ncbi.nlm.nih.gov/pubmed/26846578 "DO"] synonym: "complex IV deficiencies" EXACT [] synonym: "Complex IV Deficiency" EXACT [] synonym: "Cox Deficiencies" EXACT [] synonym: "Cox Deficiency" EXACT [] synonym: "cytochrome-c oxidase deficiencies" EXACT [] synonym: "cytochrome-c oxidase deficiency" EXACT [] synonym: "Cytochrome c Oxidase I Deficiency" EXACT [] synonym: "Cytochrome Oxidase Deficiencies" EXACT [] synonym: "Cytochrome Oxidase Deficiency" EXACT [] synonym: "early-onset hepatic failure and neurologic disorder due to cytochrome c oxidase deficiency" EXACT [] synonym: "lethal neonatal hypertrophic cardiomyopathy due to cytochrome c oxidase deficiency" EXACT [] synonym: "mitochondrial complex IV deficiency" EXACT [] synonym: "mitochondrial cytochrome c oxidase deficiency" EXACT [] synonym: "sensorineural deafness with neurologic features" NARROW [] xref: EFO:0009298 xref: GARD:48 xref: MESH:D030401 xref: MIM:PS220110 xref: NCI:C98910 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:3763 name: hermaphroditism xref: NCI:C45909 is_a: DOID:1923 ! disorder of sexual development created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3764 name: Denys-Drash syndrome def: "A syndrome that is characterized by the association of diffuse mesangial sclerosis (DMS), male pseudohermaphroditism with a 46,XY karyotype, and nephroblastoma that derives_from an abnormality in the WT1 gene (Wilms' tumor suppressor gene). (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049926/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=220&lng=EN "DO"] synonym: "DDS" EXACT [] synonym: "Drash syndrome" EXACT [] synonym: "nephropathy, Wilms tumor, and genital anomalies" EXACT [] synonym: "pseudohermaphroditism, nephron disorder and Wilms' tumor" EXACT [] synonym: "Wilms tumor and pseudohermaphroditism" EXACT [] synonym: "Wilms tumor and pseudo- or true hermaphroditism" EXACT [] xref: GARD:5576 xref: MESH:D030321 xref: MIM:194080 xref: MONDO:0008682 xref: NCI:C84668 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2154 ! nephroblastoma is_a: DOID:225 ! syndrome is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:3765 name: pseudohermaphroditism synonym: "indeterminate sex and pseudohermaphroditism" EXACT [] xref: EFO:0005579 xref: ICD10CM:Q56 xref: ICD10CM:Q56.3 xref: ICD9CM:752.7 xref: NCI:C124575 is_a: DOID:1923 ! disorder of sexual development created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3766 name: leukorrhea def: "A vaginal discharge that is characterized by a whitish or yellow color. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27773511 "DO"] synonym: "discharge - leukorrhea" EXACT [] synonym: "leukorrhea of vagina" EXACT [] synonym: "Leukorrheas" EXACT [] xref: ICD10CM:N89.8 xref: MESH:D007973 xref: NCI:C34775 is_a: DOID:3767 ! vaginal discharge [Term] id: DOID:3767 name: vaginal discharge def: "A vaginal disease that is characterized by the presence of discharge. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23889917 "DO"] synonym: "vaginal discharges" EXACT [] xref: EFO:0009365 xref: MESH:D019522 xref: NCI:C50795 is_a: DOID:121 ! vaginal disease [Term] id: DOID:3770 name: pulmonary fibrosis def: "An interstitial lung disease that is characterized by destruction, scarring, and thickening of the interstitial lung tissues and progressive pulmonary function loss in a restrictive pattern, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. It can be caused by inhaling hazardous chemicals, certain diseases, medication and genetics or unknown causes. (DO)" [https://www.lung.org/lung-health-diseases/lung-disease-lookup/pulmonary-fibrosis "DO", https://www.sciencedirect.com/science/article/pii/S0954611106004331 "DO"] synonym: "EFO:0009448" EXACT [] synonym: "fibrosing alveolitides" EXACT [] synonym: "Fibrosing Alveolitis" EXACT [] synonym: "fibrosis of lung" EXACT [] synonym: "pulmonary fibroses" EXACT [] xref: EFO:0009448 xref: MESH:D011658 xref: NCI:C26869 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:3772 name: intraventricular meningioma xref: NCI:C5273 is_a: DOID:3541 ! cerebral ventricle cancer is_a: DOID:6112 ! cerebral meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:3774 name: chordoid glioma alt_id: DOID:3773 def: "A high grade glioma that is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28315998/ "DO", https://www.frontiersin.org/articles/10.3389/fonc.2020.00502/full "DO"] synonym: "chordoid glioma of 3rd ventricle" EXACT [] synonym: "chordoid glioma of third ventricle" EXACT [] synonym: "third ventricle chordoid glioma" EXACT [] xref: ICDO:9444/1 xref: NCI:C5592 xref: ORDO:251674 is_a: DOID:0060108 ! brain glioma is_a: DOID:3541 ! cerebral ventricle cancer created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:3777 name: granuloma annulare def: "Benign granulomatous disease of unknown etiology characterized by a ring of localized or disseminated papules or nodules on the skin and palisading histiocytes surrounding necrobiotic tissue resulting from altered collagen structures." [MESH:D016460] synonym: "granulome annulare" EXACT [] xref: EFO:1000704 xref: GARD:6546 xref: ICD10CM:L92.0 xref: MESH:D016460 xref: NCI:C3470 is_a: DOID:2723 ! dermatitis is_a: DOID:9002019 ! Granuloma is_a: DOID:9005057 ! Necrobiotic Disorders [Term] id: DOID:3781 name: anovulation def: "An ovarian disease that is characterized by the absence of ovulation. (DO)" [https://en.wikipedia.org/wiki/Anovulation "DO"] synonym: "anovulations" EXACT [] xref: MESH:D000858 xref: NCI:C34388 is_a: DOID:1100 ! ovarian disease [Term] id: DOID:3783 name: Coffin-Lowry syndrome alt_id: MIM:303600 def: "A syndrome that is characterized by skeletal malformations, growth retardation, hearing deficit, paroxysmal movement disorders, and cognitive impairment in affected males and some carrier females, and has_material_basis_in mutation in the RSK2 gene on chromosome Xp22. (DO)" [https://ghr.nlm.nih.gov/condition/coffin-lowry-syndrome#inheritance "DO"] synonym: "CLS" EXACT [] synonym: "Coffin syndrome" EXACT [] synonym: "mental retardation with osteocartilaginous abnormalities" EXACT [] xref: GARD:6123 xref: MESH:D038921 xref: NCI:C84643 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:379 name: external ear disease def: "An auditory system disease that is located_in the external ear. (DO)" [https://app1.unmc.edu/medicine/heywood/otology/unit3-external-ear-disease-diagnosis.cfm "DO"] synonym: "preauricular cyst" EXACT [] synonym: "preauricular sinus and fistula" EXACT [] synonym: "preauricular sinus or fistula" EXACT [] xref: EFO:0009668 xref: ICD10CM:H61.9 xref: ICD9CM:380 xref: NCI:C26972 is_a: DOID:2742 ! auditory system disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:3798 name: pleural empyema def: "A soft tissue infectious disease that involves accumulation of pus in the pleural cavity as a result of infection within the lung (pneumonia) or a lung abscess spreading into the space. The symptoms include cough, fever, chest pain, sweating and shortness of breath. (DO)" [http://en.wikipedia.org/wiki/Pleural_empyema "DO", http://www.merck.com/mmhe/sec04/ch052/ch052b.html?qt=Pleural%20empyema%20&alt=sh "DO"] synonym: "abscess of pleural cavity" EXACT [] synonym: "abscess of thorax" EXACT [] synonym: "chest empyema" EXACT [] synonym: "empyema of pleura" EXACT [] synonym: "empyema of pleura without fistula" EXACT [] synonym: "empyema with fistula" EXACT [] synonym: "empyema with no fistula" EXACT [] synonym: "empyema without mention of fistula" EXACT [] synonym: "lung empyema" EXACT [] synonym: "pleural empyemas" EXACT [] synonym: "pleural empyema with fistula" EXACT [] synonym: "pleural empyema with no fistula" EXACT [] synonym: "purulent pleurisy" EXACT [] synonym: "purulent pleuritis" EXACT [] synonym: "Pyothorax" EXACT [] synonym: "Thoracic Empyema" EXACT [] synonym: "thoracic empyemas" EXACT [] synonym: "thorax abscess" EXACT [] xref: EFO:0009680 xref: ICD10CM:J86 xref: ICD10CM:J86.9 xref: MESH:D016724 xref: NCI:C45692 is_a: DOID:1532 ! pleural disease is_a: DOID:9004425 ! Empyema is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:3803 name: Crigler-Najjar syndrome alt_id: MIM:218800 def: "A bilirubin metabolic disorder that involves a build up of bilirubin as bilirubin is not being broken down as a result of a lack or deficiency of the enzyme uridine diphosphate glycosyltransferase (UGT). (DO)" [https://ghr.nlm.nih.gov/condition/crigler-najjar-syndrome "DO"] synonym: "bilirubin UDP glucuronyl transferase deficiency" EXACT [] synonym: "Crigler Najar Syndrome" EXACT [] synonym: "Crigler Najjar Syndrome, Type 1" EXACT [] synonym: "Crigler Najjar Syndrome, Type I" EXACT [] synonym: "Familial Nonhemolytic Unconjugated Hyperbilirubinemia" EXACT [] synonym: "HBLRCN1" EXACT [] synonym: "Hereditary Unconjugated Hyperbilirubinemia" EXACT [] synonym: "hyperbilirubinemia, Crigler-Najjar type I" EXACT [] xref: MESH:D003414 xref: NCI:C84656 xref: ORDO:205 is_a: DOID:225 ! syndrome is_a: DOID:2741 ! bilirubin metabolic disorder is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia [Term] id: DOID:3805 name: porokeratosis def: "A heritable disorder of faulty keratinization characterized by the proliferation of abnormal clones of KERATINOCYTES and lesions showing varying atrophic patches surrounded by an elevated, keratotic border. These keratotic lesions can progress to overt cutaneous neoplasm. Several clinical variants are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis." [MESH:D017499] synonym: "disseminated superficial actinic porokeratosis" EXACT [] synonym: "linear porokeratosis" EXACT [] synonym: "palmoplantar porokeratosis" EXACT [] synonym: "punctate porokeratosis" EXACT [] xref: EFO:1000757 xref: GARD:10983 xref: ICD10CM:L56.5 xref: ICD9CM:692.75 xref: MESH:D017499 xref: MIM:PS175800 xref: NCI:C85019 is_a: DOID:161 ! keratosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:3809 name: epidural spinal canal meningioma xref: NCI:C5310 is_a: DOID:1140 ! spinal canal and spinal cord meningioma created_by: rgd creation_date: 2016-03-11T12:37:40Z [Term] id: DOID:381 name: arthropathy alt_id: DOID:9003266 def: "A bone disease that is located_in the joint. (DO)" [http://en.wikipedia.org/wiki/Arthropathy "DO"] synonym: "ankylosis of ankle and foot joint" NARROW [] synonym: "ankylosis of forearm joint" NARROW [] synonym: "ankylosis of hand joint" NARROW [] synonym: "ankylosis of joint of ankle and/or foot" NARROW [] synonym: "ankylosis of joint of forearm" NARROW [] synonym: "ankylosis of joint of hand" NARROW [] synonym: "ankylosis of joint of lower leg" NARROW [] synonym: "ankylosis of joint of multiple sites" NARROW [] synonym: "ankylosis of joint of pelvic region and thigh" NARROW [] synonym: "ankylosis of joint of shoulder region" NARROW [] synonym: "ankylosis of joint of upper arm" NARROW [] synonym: "ankylosis of lower leg joint" NARROW [] synonym: "ankylosis of multiple joints" NARROW [] synonym: "ankylosis of upper arm joint" NARROW [] synonym: "arthropathies" EXACT [] synonym: "arthroses" EXACT [] synonym: "Arthrosis" EXACT [] synonym: "Infectious arthropathy" EXACT [] synonym: "joint ankylosis of the ankle and/or foot" NARROW [] synonym: "joint ankylosis of the ankle and foot" NARROW [] synonym: "joint ankylosis of the forearm" NARROW [] synonym: "joint ankylosis of the hand" NARROW [] synonym: "joint ankylosis of the lower leg" NARROW [] synonym: "joint ankylosis of the pelvic region and thigh" NARROW [] synonym: "joint ankylosis of the shoulder region" NARROW [] synonym: "joint ankylosis of the upper arm" NARROW [] synonym: "Joint Disease" EXACT [] synonym: "joint diseases" EXACT [] synonym: "vertebral joint disease" NARROW [] xref: EFO:0009477 xref: EFO:1000999 xref: ICD10CM:M00-M02 xref: ICD10CM:M12.9 xref: ICD9CM:711 xref: ICD9CM:719.90 xref: MESH:D007592 xref: NCI:C35760 xref: NCI:C78402 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:3342 ! bone inflammation disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:3813 name: central nervous system chondroma synonym: "chondroma of the CNS" EXACT [] xref: NCI:C7001 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:2602 ! chondroma is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3814 name: soft tissue chondroma def: "A connective tissue benign neoplasm arising from the extraskeletal soft tissues near tendons and joints. It is a well circumscribed tumor characterized by the presence of chondrocytes, a lobulated hyaline cartilage growth pattern, and in some cases calcification. (DO)" [https://radiopaedia.org/articles/soft-tissue-chondroma "DO"] synonym: "EFO:1000540" EXACT [] synonym: "extraskeletal chondroma" EXACT [] xref: EFO:1000540 xref: NCI:C9482 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:2602 ! chondroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3816 name: glossopharyngeal nerve paralysis xref: NCI:C27335 is_a: DOID:3418 ! glossopharyngeal nerve disease is_a: DOID:3817 ! cranial nerve palsy created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:3817 name: cranial nerve palsy def: "A cranial nerve disease that is characterized by complete or partial weakness or paralysis of the areas served by the affected nerve. (DO)" [https://aapos.org/glossary/cranial-nerve-palsy "DO"] synonym: "cranial nerve palsies" EXACT [] synonym: "cranial nerve paralysis" EXACT [] xref: EFO:0009489 xref: NCI:C26941 is_a: DOID:5656 ! cranial nerve disease created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:3818 name: photoallergic dermatitis def: "An allergic contact dermatitis that is characterized by a delayed-type hypersensitivity cutaneous reaction in response to a photoantigen applied to the skin in individuals previously sensitized to the same substance, and has_symptom erythematous papules, vesicles, or eczema. (DO)" [https://en.wikipedia.org/wiki/Photodermatitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/19834430 "DO"] synonym: "photoallergic contact dermatitides" EXACT [] synonym: "photoallergic contact dermatitis" EXACT [] synonym: "photoallergic dermatitides" EXACT [] synonym: "photoallergic eczema" EXACT [] synonym: "photoallergies" EXACT [] synonym: "Photoallergy" EXACT [] synonym: "photocontact dermatitides" EXACT [] synonym: "photocontact dermatitis" EXACT [] synonym: "photosensitive contact dermatitides" EXACT [] synonym: "photosensitive contact dermatitis" EXACT [] xref: EFO:1000751 xref: EFO:1000753 xref: MESH:D017454 xref: MONDO:0006596 is_a: DOID:3042 ! allergic contact dermatitis is_a: DOID:3159 ! photosensitivity disease [Term] id: DOID:3819 name: toxicodendron dermatitis def: "An allergic contact dermatitis that has_allergic_trigger members of the toxicodendron family, including urushiol producing poison ivy, poison oak, and poison sumac, has_symptom pruritic erythematous rash with papules, vesicles, and plaques, and has_material_basis_in a type IV hypersensitivity reaction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16805148 "DO"] synonym: "contact dermatitis due to genus Toxicodendron" EXACT [] synonym: "poison ivy dermatitides" EXACT [] synonym: "Poison Ivy Dermatitis" EXACT [] synonym: "Rhus Dermatitides" EXACT [] synonym: "Rhus Dermatitis" EXACT [] synonym: "toxicodendron dermatitides" EXACT [] xref: EFO:1000773 xref: MESH:D011040 is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:3821 name: posterior cerebral artery infarction def: "NECROSIS induced by ISCHEMIA in the POSTERIOR CEREBRAL ARTERY distribution system which supplies portions of the BRAIN STEM; the THALAMUS; TEMPORAL LOBE, and OCCIPITAL LOBE. Depending on the size and location of infarction, clinical features include OLFACTION DISORDERS and visual problems (AGNOSIA; ALEXIA; HEMIANOPSIA)." [MESH:D020762] synonym: "PCA Infarction" EXACT [] synonym: "Posterior Cerebral Artery Embolic Infarction" EXACT [] synonym: "Posterior Cerebral Artery Stroke" EXACT [] synonym: "Posterior Cerebral Artery Syndrome" EXACT [] synonym: "Posterior Cerebral Artery Thrombotic Infarction" EXACT [] synonym: "THROMBOTIC STROKE" BROAD [] xref: EFO:1001118 xref: MESH:D020762 xref: RDO:0007426 is_a: DOID:3526 ! cerebral infarction is_a: DOID:3527 ! cerebral arterial disease [Term] id: DOID:3825 name: Shwartzman phenomenon def: "Hemorrhagic necrosis that was first demonstrated in rabbits with a two-step reaction, an initial local (intradermal) or general (intravenous) injection of a priming endotoxin (ENDOTOXINS) followed by a second intravenous endotoxin injection (provoking agent) 24 h later. The acute inflammation damages the small blood vessels. The following intravascular coagulation leads to capillary and venous THROMBOSIS and NECROSIS. Shwartzman phenomenon can also occur in other species with a single injection of a provoking agent, and during infections or pregnancy. Its susceptibility depends on the status of IMMUNE SYSTEM, coagulation, FIBRINOLYSIS, and blood flow." [MESH:D012790] synonym: "Schwartzman Phenomenon" EXACT [] synonym: "Schwartzman Reaction" EXACT [] synonym: "Schwartzman reactions" EXACT [] synonym: "Shwartzman reaction" EXACT [] xref: GARD:7636 xref: MESH:D012790 is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:865 ! vasculitis [Term] id: DOID:3827 name: congenital diaphragmatic hernia alt_id: MIM:142340 def: "A diaphragm disease characterized by the lack of development of all or part of the diaphragm, which results in an abnormal opening that allows the stomach and intestines to move into the chest cavity and crowd the heart and lungs. (DO)" [http://en.wikipedia.org/wiki/Congenital_diaphragmatic_hernia "DO", http://ghr.nlm.nih.gov/condition/congenital-diaphragmatic-hernia "DO"] synonym: "agenesis of hemidiaphragm" EXACT [] synonym: "Bochdalek hernias" EXACT [] synonym: "CDH" EXACT [] synonym: "complete agenesis of diaphragm" NARROW [] synonym: "congenital diaphragmatic defect" EXACT [] synonym: "congenital diaphragmatic defects" EXACT [] synonym: "congenital diaphragmatic hernias" EXACT [] synonym: "diaphragm unilateral ageneses" EXACT [] synonym: "diaphragm unilateral agenesis" EXACT [] synonym: "DIH" EXACT [] synonym: "DIH1" NARROW [] synonym: "HCD" EXACT [] synonym: "hemidiaphragm agenesis" EXACT [] synonym: "hemidiaphragm, agenesis of diaphragmatic hernia 1" NARROW [] synonym: "Morgagni's hernias" EXACT [] synonym: "Morgagni hernias" EXACT [] synonym: "Morgagnis hernias" EXACT [] synonym: "unilateral agenesis of diaphragm" EXACT [] xref: EFO:0007216 xref: GARD:1481 xref: ICD10CM:Q79.0 xref: MESH:D065630 xref: MIM:PS142340 xref: NCI:C34687 xref: NCI:C98893 xref: ORDO:2140 is_a: DOID:0080015 ! physical disorder is_a: DOID:9005835 ! Congenital Abnormalities is_a: DOID:9009073 ! Diaphragmatic Hernia [Term] id: DOID:3828 name: chromophobe adenoma def: "A benign tumor of the anterior pituitary in which the cells do not stain with acidic or basic dyes." [MESH:D000238] synonym: "chromophobe adenoma of the pituitary gland" EXACT [] synonym: "Chromophobe Adenomas" EXACT [] synonym: "EFO:1000867" EXACT [] xref: EFO:1000867 xref: ICDO:8270/0 xref: MESH:D000238 xref: NCI:C2857 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:3829 ! pituitary adenoma [Term] id: DOID:3829 name: pituitary adenoma def: "A pituitary gland benign neoplasm that derives_from glandular epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24010395 "DO"] synonym: "adenoma of the pituitary gland" EXACT [] synonym: "EFO:1000478" EXACT [] synonym: "pituitary adenoma, multiple types" BROAD [] synonym: "pituitary adenomas" EXACT [] synonym: "Pituitary Gland Adenoma" EXACT [] xref: EFO:0002619 xref: EFO:1000478 xref: ICDO:8272/0 xref: MIM:PS102200 xref: NCI:C3329 xref: ORDO:99408 is_a: DOID:60009 ! pituitary gland benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:384 name: Wolff-Parkinson-White syndrome alt_id: MIM:194200 def: "A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave. In this syndrome, atrial impulses are abnormally conducted to the HEART VENTRICLES via an ACCESSORY CONDUCTING PATHWAY that is located between the wall of the right or left atria and the ventricles, also known as a BUNDLE OF KENT. The inherited form can be caused by mutation of PRKAG2 gene encoding a gamma-2 regulatory subunit of AMP-activated protein kinase." [MESH:D014927] synonym: "accessory atrioventricular pathways" NARROW [] synonym: "anomalous atrioventricular excitation" EXACT [] synonym: "Anomalous A-V excitation" EXACT [SNOMEDCT_2005_07_31:266304003] synonym: "Anomalous Ventricular Excitation Syndrome" EXACT [] synonym: "Auriculoventricular Accessory Pathway Syndrome" EXACT [] synonym: "False Bundle-Branch Block Syndrome" EXACT [] synonym: "FAMILIAL HYPERTROPHIC CARDIOMYOPATHY WITH WOLFF-PARKINSON-WHITE SYNDROME" NARROW [] synonym: "Ventricular Pre-Excitation with Arrhythmia" EXACT [] synonym: "WOLFF-PARKINSON-WHITE PATTERN" RELATED [] synonym: "Wolff-Parkinson-White syndrome, childhood-onset" NARROW [] synonym: "Wolf Parkinson White syndrome" RELATED [] synonym: "WPW syndrome" EXACT [] xref: EFO:1001450 xref: GARD:7897 xref: ICD9CM:426.7 xref: MESH:D014927 xref: NCI:C35132 is_a: DOID:10273 ! heart conduction disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:9002491 ! Pre-Excitation Syndromes [Term] id: DOID:3840 name: craniopharyngioma def: "A benign pituitary-region neoplasm that originates from Rathke's pouch. The two major histologic and clinical subtypes are adamantinous (or classical) craniopharyngioma and papillary craniopharyngioma. The adamantinous form presents in children and adolescents as an expanding cystic lesion in the pituitary region. The cystic cavity is filled with a black viscous substance and histologically the tumor is composed of adamantinomatous epithelium and areas of calcification and necrosis. Papillary craniopharyngiomas occur in adults, and histologically feature a squamous epithelium with papillations. (From Joynt, Clinical Neurology, 1998, Ch14, p50)" [MESH:D003397] synonym: "Adamantinous Craniopharyngioma" NARROW [] synonym: "Adamantinous Craniopharyngiomas" NARROW [] synonym: "adult craniopharyngioma" EXACT [] synonym: "adult craniopharyngiomas" EXACT [] synonym: "Child Craniopharyngioma" EXACT [] synonym: "Child Craniopharyngiomas" EXACT [] synonym: "Craniopharyngiomas" EXACT [] synonym: "EFO:1000209" EXACT [] synonym: "neoplasm of Rathke's pouch" EXACT [] synonym: "Papillary Craniopharyngioma" NARROW [] synonym: "Papillary Craniopharyngiomas" NARROW [] synonym: "Rathke's Cleft Neoplasm" EXACT [] synonym: "Rathke's pouch tumor" EXACT [] synonym: "Rathke Cleft Neoplasm" EXACT [] synonym: "Rathke Pouch Tumor" EXACT [] synonym: "Rathkes Cleft Neoplasm" EXACT [] synonym: "Rathkes pouch tumor" EXACT [] xref: EFO:1000209 xref: GARD:10486 xref: ICDO:9350/1 xref: MESH:D003397 xref: NCI:C2964 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:171 ! neuroectodermal tumor [Term] id: DOID:3842 name: skull base cancer xref: NCI:C4676 is_a: DOID:1863 ! skull cancer is_a: DOID:9008724 ! Skull Base Neoplasms [Term] id: DOID:3843 name: diencephalic neoplasm synonym: "malignant diencephalic neoplasm" EXACT [] synonym: "malignant diencephalic tumor" EXACT [] synonym: "tumor of diencephalon" EXACT [] xref: NCI:C5125 xref: NCI:C5126 is_a: DOID:1659 ! supratentorial cancer is_a: DOID:9006537 ! Supratentorial Neoplasms [Term] id: DOID:3846 name: adamantinous craniopharyngioma synonym: "adamantinomatous craniopharyngioma" EXACT [] synonym: "adamantinous Rathke's pouch tumor" EXACT [] xref: EFO:1000069 xref: ICDO:9351/1 xref: NCI:C4726 is_a: DOID:3840 ! craniopharyngioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3847 name: papillary craniopharyngioma synonym: "papillary Rathke's pouch tumor" EXACT [] xref: EFO:1000447 xref: ICDO:9352/1 xref: NCI:C4725 is_a: DOID:3840 ! craniopharyngioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3850 name: hemangiopericytic tumor synonym: "EFO:1000289" EXACT [] synonym: "hemangiopericytic neoplasm" EXACT [] xref: EFO:1000289 xref: NCI:C7076 is_a: DOID:3316 ! perivascular tumor created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:3852 name: Peutz-Jeghers syndrome alt_id: MIM:175200 def: "An intestinal disease characterized by melanocytic macules of the lips, buccal mucosa, and digits; multiple gastrointestinal hamartomatous polyps; and an increased risk of various neoplasms that has_material_basis_in heterozygous mutation in the serine/threonine kinase STK11 gene on chromosome 19p13. (DO)" [https://pubmed.ncbi.nlm.nih.gov/10499464/ "DO", https://pubmed.ncbi.nlm.nih.gov/10874301/ "DO"] synonym: "colonic hamartomatous polyp" NARROW [] synonym: "gastric Peutz-Jeghers polyp" NARROW [] synonym: "hamartomatous intestinal polyposes" NARROW [] synonym: "Hamartomatous Intestinal Polyposis" NARROW [] synonym: "Perioral Lentiginoses" NARROW [] synonym: "Perioral Lentiginosis" NARROW [] synonym: "periorificial lentiginosis syndrome" EXACT [] synonym: "periorificial lentiginosis syndromes" EXACT [] synonym: "Peutz Jegher's Syndrome" EXACT [] synonym: "Peutz Jeghers colon polyp" NARROW [] synonym: "Peutz Jeghers polyp" EXACT [] synonym: "Peutz-Jeghers polyp of small Intestine" NARROW [] synonym: "Peutz-Jeghers Polyp of the Stomach" NARROW [] synonym: "Peutz Jeghers Polyposis" EXACT [] synonym: "peutz-jeghers small bowel hamartoma" NARROW [] synonym: "Peutz-Jegher syndrome" EXACT [] synonym: "PJS" EXACT [] synonym: "polyps and spots syndrome" EXACT [] synonym: "polyps-and-spots syndromes" EXACT [] xref: EFO:1000470 xref: EFO:1000471 xref: GARD:7378 xref: ICD10CM:Q85.89 xref: MESH:D010580 xref: NCI:C3324 xref: NCI:C4733 xref: NCI:C7755 xref: ORDO:2869 is_a: DOID:5295 ! intestinal disease is_a: DOID:6225 ! Cronkhite-Canada syndrome is_a: DOID:9000319 ! Lentigo is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:3855 name: seminal vesicle tumor synonym: "seminal vesicle neoplasm" EXACT [] synonym: "seminal vesicle tumour" EXACT [] synonym: "tumor of seminal vesicle" EXACT [] synonym: "tumour of seminal vesicle" EXACT [] xref: NCI:C39908 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:9004207 ! Testicular Neoplasms created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:3856 name: male reproductive organ cancer def: "A reproductive organ cancer that is manifested in the male genital system. This includes organs such as the penis and scrotum. (DO)" [http://en.wikipedia.org/wiki/Template\:Male_genital_neoplasia "DO", http://www.wrongdiagnosis.com/g/genital_system_cancer/intro.htm "DO"] synonym: "EFO:0007355" EXACT [] synonym: "male genital cancer" EXACT [] synonym: "malignant neoplasm of male genital organ" EXACT [] synonym: "malignant neoplasm of male genital organ or tract" EXACT [] synonym: "malignant neoplasm of male genital organs" EXACT [] synonym: "malignant tumor of male genital organ" EXACT [] synonym: "malignant tumor of male reproductive system" EXACT [] xref: EFO:0007355 xref: ICD10CM:C63.9 xref: ICD9CM:187.9 xref: MONDO:0005836 xref: NCI:C3054 xref: NCI:C8561 is_a: DOID:193 ! reproductive organ cancer is_a: DOID:9003125 ! Male Genital Neoplasms [Term] id: DOID:3857 name: large cell medulloblastoma def: "A medulloblastoma that is characterized by cells that are larger than would be normally expected. (DO)" [http://en.wikipedia.org/wiki/Large_cell "DO"] synonym: "anaplastic medulloblastoma" EXACT [] synonym: "EFO:0008508" EXACT [] xref: EFO:0008508 xref: ICDO:9474/3 xref: NCI:C6904 xref: ORDO:251855 is_a: DOID:0050902 ! medulloblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3860 name: cerebellar vermis medulloblastoma synonym: "vermis medulloblastoma" EXACT [] xref: NCI:C5401 is_a: DOID:0050902 ! medulloblastoma is_a: DOID:0060104 ! cerebellar medulloblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3861 name: medullomyoblastoma synonym: "EFO:1000368" EXACT [] synonym: "medullomyoblastomas" EXACT [] xref: EFO:1000368 xref: ICDO:9472/3 xref: NCI:C3706 is_a: DOID:0050902 ! medulloblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3864 name: adult medulloblastoma synonym: "adult brain medulloblastoma" EXACT [] synonym: "adult medulloblastomas" EXACT [] xref: NCI:C4011 xref: NCI:C9373 is_a: DOID:0050902 ! medulloblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3865 name: adult central nervous system embryonal tumor def: "A central nervous system embryonal tumor that occurs in adults. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33477185/ "DO"] synonym: "adult central nervous system primitive neuroectodermal neoplasm" EXACT [] synonym: "adult CNS PNET" EXACT [] xref: NCI:C5411 is_a: DOID:0060103 ! central nervous system embryonal tumor [Term] id: DOID:3868 name: melanotic medulloblastoma xref: NCI:C9497 is_a: DOID:0050902 ! medulloblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3869 name: childhood medulloblastoma synonym: "childhood medulloblastomas" EXACT [] synonym: "pediatric medulloblastoma" EXACT [] xref: ICD-O:M9470/3 xref: NCI:C3997 is_a: DOID:0050902 ! medulloblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3870 name: childhood central nervous system embryonal tumor def: "A central nervous system embryonal tumor that occurs in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6315657/ "DO"] synonym: "childhood central nervous system primitive neuroectodermal neoplasm" EXACT [] synonym: "pediatric CNS PNET" EXACT [] xref: ICD-O:M9473/3 xref: NCI:C5961 is_a: DOID:0060103 ! central nervous system embryonal tumor [Term] id: DOID:3873 name: desmoplastic/nodular medulloblastoma def: "A medulloblastoma that is characterized by the presence of nodular, collagenous areas which do not contain reticulin, surrounded by hypercellular areas which contain an intercellular reticulin fiber network. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32304218/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910646/ "DO"] synonym: "nodular medulloblastoma" EXACT [] xref: NCI:C4956 xref: NCI:C5407 is_a: DOID:0050902 ! medulloblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3875 name: thrombophlebitis def: "A phlebitis that results from a blood clot in the vessel. (DO)" [http://en.wikipedia.org/wiki/Thrombophlebitis "DO", http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/thrombophlebitis.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001108.htm "DO"] synonym: "phlebitis and thrombophlebitis of superficial vessels of lower extremities" EXACT [] synonym: "Phlegmasia Alba Dolens" EXACT [] synonym: "Superficial thrombophlebitis of leg" EXACT [] synonym: "Thrombophlebitides" EXACT [] synonym: "thrombophlebitis of a superficial leg vein" EXACT [] synonym: "thrombophlebitis of superficial veins of lower extremity" EXACT [] xref: EFO:0003887 xref: ICD10CM:I80.0 xref: ICD9CM:451.0 xref: MESH:D013924 xref: NCI:C3410 is_a: DOID:864 ! phlebitis is_a: DOID:9003871 ! Venous Thrombosis [Term] id: DOID:3876 name: colonic pseudo-obstruction def: "Functional obstruction of the COLON leading to MEGACOLON in the absence of obvious COLONIC DISEASES or mechanical obstruction. When this condition is acquired, acute, and coexisting with another medical condition (trauma, surgery, serious injuries or illness, or medication), it is called Ogilvie's syndrome." [MESH:D003112] synonym: "Colonic Pseudoobstruction" EXACT [] synonym: "Ogilvie's Syndrome" EXACT [] synonym: "Ogilvie Disease" EXACT [] synonym: "Ogilvie Syndrome" EXACT [] synonym: "primary chronic pseudo-obstruction of colon" EXACT [SNOMEDCT_2005_07_31:35065006] xref: EFO:1000871 xref: MESH:D003112 xref: RDO:0005241 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:3877 ! functional colonic disease [Term] id: DOID:3877 name: functional colonic disease def: "Chronic or recurrent colonic disorders without an identifiable structural or biochemical explanation. The widely recognized IRRITABLE BOWEL SYNDROME falls into this category." [MESH:D003109] synonym: "functional colonic diseases" EXACT [] xref: MESH:D003109 xref: RDO:0005237 is_a: DOID:5353 ! colonic disease [Term] id: DOID:3883 name: Lynch syndrome def: "A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers. (DO)" [http://en.wikipedia.org/wiki/Hereditary_nonpolyposis_colorectal_cancer "DO", http://ghr.nlm.nih.gov/condition/lynch-syndrome "DO"] synonym: "APC-mutation negative familial colorectal cancer" EXACT [] synonym: "familial nonpolyposis colon cancer" EXACT [] synonym: "hereditary defective mismatch repair syndrome" EXACT [] synonym: "Hereditary non-polyposis colon cancer" EXACT [] synonym: "hereditary nonpolyposis colon cancer" EXACT [] synonym: "Hereditary non-polyposis colon cancer syndrome" EXACT [] synonym: "Hereditary nonpolyposis colon cancer syndrome" EXACT [] synonym: "Hereditary non-polyposis colorectal cancer" EXACT [] synonym: "hereditary nonpolyposis colorectal cancer" EXACT [] synonym: "Hereditary non-polyposis colorectal cancer syndrome" EXACT [] synonym: "hereditary nonpolyposis colorectal cancer syndrome" EXACT [] synonym: "hereditary nonpolyposis colorectal carcinoma" EXACT [] synonym: "hereditary nonpolyposis colorectal neoplasm" EXACT [] synonym: "hereditary nonpolyposis colorectal neoplasms" EXACT [] synonym: "HNPCC" EXACT [] synonym: "HNPCC - hereditary nonpolyposis colon cancer" EXACT [] synonym: "INHERITED MMR DEFICIENCY (LYNCH SYNDROME)" EXACT [] synonym: "non-polyposis colorectal cancer" EXACT [] xref: EFO:0007354 xref: EFO:0009911 xref: GARD:9905 xref: MESH:D003123 xref: MIM:PS120435 xref: MONDO:0005835 xref: NCI:C120083 xref: NCI:C8494 xref: ORDO:144 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:9008443 ! Colorectal Neoplasms is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:3890 name: acute intermittent porphyria alt_id: MIM:176000 def: "An autosomal dominant porphyria that is due to a deficiency of HYDROXYMETHYLBILANE SYNTHASE in the LIVER, the third enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features are recurrent and life-threatening neurologic disturbances, ABDOMINAL PAIN, and elevated level of AMINOLEVULINIC ACID and PORPHOBILINOGEN in the urine." [MESH:D017118] synonym: "ABNORMALITY OF THE HEME BIOSYNTHETIC PATHWAY" BROAD [] synonym: "acute intermittent porphyrias" EXACT [] synonym: "AIP" EXACT [] synonym: "AIP - acute intermittent porphyria" EXACT [] synonym: "HMBS-RELATED CONDITION" EXACT [] synonym: "hydroxymethylbilane synthase deficiencies" EXACT [] synonym: "Hydroxymethylbilane Synthase Deficiency" EXACT [] synonym: "PBGD deficiencies" EXACT [] synonym: "PBGD Deficiency" EXACT [] synonym: "PORC" RELATED [] synonym: "porphobilinogen deaminase deficiencies" EXACT [] synonym: "Porphobilinogen Deaminase Deficiency" EXACT [] synonym: "PORPHYRIA, ACUTE INTERMITTENT, NONERYTHROID VARIANT" NARROW [] synonym: "PORPHYRIA, CHESTER TYPE" RELATED [] synonym: "pyrroloporphyria" EXACT [] synonym: "Swedish Type Porphyria" EXACT [] synonym: "Swedish type porphyrias" EXACT [] synonym: "UPS deficiencies" EXACT [] synonym: "UPS deficiency" EXACT [] synonym: "uroporphyrinogen synthase deficiencies" EXACT [] synonym: "uroporphyrinogen synthase deficiency" EXACT [] xref: GARD:5732 xref: MESH:D017118 xref: NCI:C84536 xref: ORDO:79276 is_a: DOID:3133 ! acute porphyria is_a: DOID:9005584 ! Hepatic Porphyrias [Term] id: DOID:3891 name: placental insufficiency def: "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy. (DO)" [http://en.wikipedia.org/wiki/Placental_insufficiency "DO"] synonym: "placental dysfunction" EXACT [] synonym: "uteroplacental insufficiency" EXACT [] synonym: "uteroplacental vascular insufficiency" EXACT [] xref: EFO:0007443 xref: MESH:D010927 is_a: DOID:780 ! placenta disease [Term] id: DOID:3892 name: insulinoma alt_id: MIM:606960 def: "A pancreatic cystadenoma that is characterized by the overproduction of insulin. (DO)" [https://en.wikipedia.org/wiki/Insulinoma "DO"] synonym: "beta-Cell Adenoma" EXACT [] synonym: "beta-cell adenomas" EXACT [] synonym: "beta Cell Tumor" EXACT [] synonym: "beta-cell tumors" EXACT [] synonym: "Insulinomas" EXACT [] synonym: "insulinoma tumor suppressor gene locus" EXACT [] synonym: "insulin-producing tumor of islet cells" EXACT [] synonym: "insuloma" EXACT [] synonym: "insulomas" EXACT [] xref: EFO:0000549 xref: GARD:3010 xref: ICDO:8151/3 xref: MESH:D007340 xref: NCI:C121566 xref: NCI:C3140 xref: NCI:C34053 xref: NCI:C65184 xref: NCI:C95598 xref: ORDO:97279 is_a: DOID:3918 ! pancreatic cystadenoma is_a: DOID:9000283 ! Islet Cell Adenoma [Term] id: DOID:3893 name: hidrocystoma def: "A cystic form of sweat gland adenoma (ADENOMA, SWEAT GLAND). It is produced by the cystic proliferation of apocrine secretory glands. It is not uncommon, occurring in adult life in no particular age group, with males and females equally affected. The commonest site is around the eye, particularly lateral to the outer canthus. It is cured by surgical removal. (Stedman, 25th ed; Rook et al., Textbook of Dermatology, 4th ed, p2410)" [MESH:D018251] synonym: "Apocrine cystadenoma" EXACT [] synonym: "eccrine cystadenoma" EXACT [] synonym: "eccrine hidrocystoma of skin" EXACT [] synonym: "EFO:1000967" EXACT [] synonym: "Hidrocystomas" EXACT [] xref: EFO:1000967 xref: ICDO:8404/0 xref: MESH:D018251 xref: NCI:C3760 is_a: DOID:5443 ! clear cell hidradenoma is_a: DOID:5876 ! apocrine sweat gland neoplasm [Term] id: DOID:3895 name: apocrine adenoma synonym: "tubular apocrine adenoma" EXACT [] xref: ICDO:8401/0 xref: NCI:C27527 xref: NCI:C4168 is_a: DOID:5876 ! apocrine sweat gland neoplasm created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:3896 name: hidradenoma def: "A sweat gland benign neoplasm that is located_in an apical sweat gland. (DO)" [https://en.wikipedia.org/wiki/Hidradenoma "DO"] synonym: "hidradenoma of skin" EXACT [] synonym: "hidradenomas" EXACT [] synonym: "sweat gland adenoma" EXACT [] synonym: "syringadenoma" EXACT [] synonym: "syringoadenoma" EXACT [] xref: ICDO:8402/0 xref: MESH:D006607 xref: MONDO:0002805 xref: NCI:C7560 xref: NCI:C7563 is_a: DOID:2664 ! sweat gland benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:3901 name: vulvitis def: "A vulvar disease that is characterized by inflammation of the vulva. (DO)" [https://en.wikipedia.org/wiki/Vulvitis "DO"] synonym: "vulvitides" EXACT [] xref: EFO:1001239 xref: ICD10CM:N76.2 xref: MESH:D014847 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:3904 name: bronchus carcinoma def: "A bronchus cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "BC - bronchogenic carcinoma" EXACT [] synonym: "Bronchial Carcinoma" EXACT [] synonym: "bronchial carcinomas" EXACT [] synonym: "Bronchogenic Carcinoma" EXACT [] synonym: "bronchogenic carcinomas" EXACT [] synonym: "EFO:1001942" EXACT [] xref: EFO:1001942 xref: MESH:D002283 xref: NCI:C35875 is_a: DOID:1325 ! bronchus cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:3905 name: lung carcinoma def: "A lung cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the lungs and has_symptom cough and has_symptom chest discomfort or pain and has_symptom weight loss and has_symptom hemoptysis. (DO)" [https://merck.com/mmpe/sec05/ch062/ch062b.html "DO"] synonym: "carcinoma of lung" EXACT [] synonym: "EFO:0001071" EXACT [] xref: EFO:0001071 xref: EFO:1000331 xref: MONDO:0005138 xref: NCI:C4878 is_a: DOID:1324 ! lung cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:3906 name: bronchial benign neoplasm xref: EFO:1000849 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:9001241 ! Bronchial Neoplasms [Term] id: DOID:3907 name: lung squamous cell carcinoma def: "A non-small cell lung carcinoma that has_material_basis_in the squamous cell. (DO)" [http://cancergenome.nih.gov/cancersselected/lungsquamouscell "DO", http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO", http://en.wikipedia.org/wiki/Squamous_cell_carcinoma_of_the_lung "DO", http://www.cancer.gov/dictionary?CdrID=46595 "DO"] synonym: "EFO:0000708" EXACT [] synonym: "Epidermoid carcinoma of lung" EXACT [] synonym: "Epidermoid cell carcinoma of the lung" EXACT [NCI2004_11_17:C3493] synonym: "SCC - Squamous cell carcinoma of lung" EXACT [] synonym: "Squamous cell carcinoma of lung" EXACT [] synonym: "Squamous Cell Carcinoma of the Lung" EXACT [] xref: EFO:0000708 xref: NCI:C3493 xref: RDO:9001311 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3908 ! lung non-small cell carcinoma created_by: rgd creation_date: 2017-01-30T00:00:00Z [Term] id: DOID:3908 name: lung non-small cell carcinoma alt_id: DOID:9000424 def: "A lung carcinoma that is characterized as any type of epithelial lung cancer other than small cell lung carcinoma. (DO)" [http://en.wikipedia.org/wiki/Non-small-cell_lung_carcinoma "DO"] synonym: "EFO:0003060" EXACT [] synonym: "non-small cell lung cancer" EXACT [] synonym: "nonsmall cell lung cancer" EXACT [] synonym: "nonsmall cell lung cancer, resistance to tyrosine kinase inhibitor in" RELATED [] synonym: "nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, somatic" RELATED [] synonym: "NONSMALL CELL LUNG CANCER SUPPRESSOR" RELATED [] synonym: "non-small-cell lung carcinomas" EXACT [] synonym: "NSCLC" EXACT [] xref: EFO:0003060 xref: MESH:D002289 xref: MIM:603040 xref: NCI:C2926 xref: RDO:0008878 is_a: DOID:3904 ! bronchus carcinoma is_a: DOID:3905 ! lung carcinoma [Term] id: DOID:3910 name: lung adenocarcinoma def: "A lung non-small cell carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://cancergenome.nih.gov/cancersselected/lungadenocarcinoma "DO", http://en.wikipedia.org/wiki/Adenocarcinoma "DO", http://en.wikipedia.org/wiki/Adenocarcinoma_of_the_lung "DO"] synonym: "adenocarcinoma of lung" EXACT [] synonym: "adenocarcinoma of lung, somatic" RELATED [] synonym: "bronchogenic lung adenocarcinoma" EXACT [] synonym: "EFO:0000571" EXACT [] synonym: "LUAD" EXACT [] synonym: "nonsmall cell adenocarcinoma" EXACT [] synonym: "non-small cell lung adenocarcinoma" EXACT [] synonym: "pulmonary adenocarcinoma" EXACT [] xref: EFO:0000571 xref: EFO:0005288 xref: GARD:5742 xref: MESH:D000077192 xref: NCI:C129299 xref: NCI:C27745 xref: NCI:C3512 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3908 ! lung non-small cell carcinoma [Term] id: DOID:3911 name: progeria alt_id: MIM:176670 def: "A progeroid syndrome characterized by extreme short stature, low body weight, early loss of hair, lipodystrophy, scleroderma, decreased joint mobility, osteolysis, and facial features that resemble aged persons that has_material_basis_in mutation in the LMNA gene on chromosome 1q22. (DO)" [https://www.genome.gov/Genetic-Disorders/Progeria "DO", https://www.ncbi.nlm.nih.gov/pubmed/12714972 "DO", https://www.ncbi.nlm.nih.gov/pubmed/16838330 "DO"] synonym: "HGPS" EXACT [] synonym: "Hutchinson-Gilford disease" EXACT [] synonym: "Hutchinson Gilford Progeria Syndrome" EXACT [] synonym: "Hutchinson-Gilford Progeria Syndrome, Atypical" EXACT [] synonym: "Hutchinson-Gilford Progeria Syndromes" EXACT [] synonym: "Hutchinson Gilford Syndrome" EXACT [] xref: EFO:0000671 xref: GARD:7467 xref: ICD10CM:E34.8 xref: MESH:D011371 xref: MONDO:0020732 xref: NCI:C34951 xref: ORDO:740 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0081332 ! progeroid syndrome is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9002644 ! Premature Aging is_a: DOID:9006138 ! Laminopathies [Term] id: DOID:3917 name: pancreatic serous cystadenoma xref: NCI:C5712 xref: RDO:9004095 is_a: DOID:3918 ! pancreatic cystadenoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3918 name: pancreatic cystadenoma xref: NCI:C4374 xref: RDO:9004094 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:9008960 ! Pancreatic Adenoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:3919 name: pancreatic serous cystic neoplasm xref: NCI:C41248 is_a: DOID:1795 ! malignant exocrine pancreas neoplasm created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:3923 name: diffuse lipomatosis xref: EFO:1000687 xref: NCI:C6504 is_a: DOID:3153 ! lipomatosis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3924 name: main bronchus cancer synonym: "Ca main bronchus" EXACT [SNOMEDCT_2005_07_31:154487009] synonym: "malignant neoplasm of main bronchus" EXACT [ICD9CM_2006:162.2] xref: ICD10CM:C34.0 xref: ICD9CM:162.2 xref: RDO:9001994 is_a: DOID:1324 ! lung cancer is_a: DOID:1325 ! bronchus cancer created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:3925 name: steroid lipomatosis xref: EFO:1000769 xref: NCI:C27487 is_a: DOID:3153 ! lipomatosis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3926 name: mediastinal lipomatosis xref: EFO:1000732 xref: NCI:C27488 xref: RDO:9004118 is_a: DOID:3153 ! lipomatosis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:3927 name: pelvic lipomatosis def: "A neoplastic process characterized by a diffuse poorly circumscribed overgrowth of adipose tissue in the pelvic region. Clinical presentation includes complaints of back and abdominal pain, urinary frequency, perineal pain and constipation. It predominately affects black males. (NCI)" [] xref: EFO:1000748 xref: GARD:7350 xref: MESH:C535549 xref: MONDO:0006593 xref: NCI:C27486 is_a: DOID:3153 ! lipomatosis is_a: DOID:365 ! bladder disease [Term] id: DOID:3928 name: adiposis dolorosa def: "A rare disease characterized by multiple tumor-like fatty deposits that press on nerves in various sites causing pain and weakness. Often these lipoma-like structures are located on the trunk and limbs but not on the face and hands." [MESH:D000274] synonym: "adiposalgia" EXACT [] synonym: "adiposalgias" EXACT [] synonym: "adipose tissue rheumatism" EXACT [] synonym: "Ander's Syndrome" EXACT [] synonym: "Anders Syndrome" EXACT [] synonym: "Anders syndromes" EXACT [] synonym: "Ander Syndrome" EXACT [] synonym: "Decum Vitaut Syndrome" EXACT [] synonym: "Dercum's disease" EXACT [] synonym: "Dercum Disease" EXACT [] synonym: "Dercums disease" EXACT [] synonym: "Dercum-Vitaut syndrome" EXACT [] synonym: "lipomatosis dolorosa" EXACT [] synonym: "morbus dercum" EXACT [] xref: EFO:1000667 xref: GARD:5750 xref: ICD10CM:E88.2 xref: MESH:D000274 xref: MIM:103200 xref: MONDO:0007070 xref: NCI:C84540 is_a: DOID:3153 ! lipomatosis [Term] id: DOID:3930 name: otitis interna def: "An inner ear disease which involves inflammation of the inner ear. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=otitis%20interna "DO"] synonym: "inner ear infection" EXACT [] xref: EFO:0009604 xref: NCI:C27339 is_a: DOID:2952 ! inner ear disease [Term] id: DOID:3933 name: anterior compartment syndrome def: "Rapid swelling, increased tension, pain, and ischemic necrosis of the muscles of the anterior tibial compartment of the leg, often following excessive PHYSICAL EXERTION." [MESH:D000868] synonym: "anterior compartment syndromes" EXACT [] synonym: "Anterior Tibial Syndrome" EXACT [] synonym: "anterior tibial syndromes" EXACT [] xref: EFO:1000808 xref: ICD10CM:M76.81 xref: MESH:D000868 is_a: DOID:682 ! compartment syndrome [Term] id: DOID:3944 name: Arenaviridae infectious disease def: "A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. (DO)" [http://en.wikipedia.org/wiki/Arenaviridae "DO"] synonym: "Arenaviridae Infection" EXACT [] synonym: "arenaviridae infections" EXACT [] synonym: "Arenavirus Infection" EXACT [] synonym: "arenavirus infections" EXACT [] xref: EFO:0007150 xref: MESH:D001117 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:3946 name: pituitary-dependent Cushing's disease alt_id: RDO:0000271 def: "A disease of the PITUITARY GLAND characterized by the excess amount of ADRENOCORTICOTROPIC HORMONE secreted. This leads to hypersecretion of cortisol (HYDROCORTISONE) by the ADRENAL GLANDS resulting in CUSHING SYNDROME." [MESH:D047748] synonym: "Cushing disease" EXACT [] synonym: "inappropriate ACTH secretion syndrome" EXACT [] synonym: "Inappropriate Adrenocorticotropic Hormone Secretion" EXACT [] synonym: "overproduction of ACTH" EXACT [] synonym: "Pituitary ACTH Hypersecretion" EXACT [] synonym: "Pituitary Cushing Disease" EXACT [] synonym: "Pituitary Cushing Diseases" EXACT [] synonym: "Pituitary Cushing Syndrome" EXACT [] synonym: "pituitary-dependent Cushing disease" EXACT [] synonym: "Pituitary Dependent Hypercortisolism" EXACT [] synonym: "pituitary dependent hypercortisolism disorder" EXACT [] synonym: "pituitary-dependent hypercortisolism disorders" EXACT [] xref: EFO:1001110 xref: ICD10CM:E24.0 xref: MESH:D047748 xref: NCI:C113210 is_a: DOID:2444 ! hyperpituitarism [Term] id: DOID:3947 name: adrenal gland hyperfunction def: "Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM." [MESH:D000308] synonym: "adrenocortical hyperfunction" EXACT [] synonym: "Hyperadrenalism" EXACT [] synonym: "Hyperadrenocorticism" EXACT [] synonym: "hypercorticism" EXACT [] synonym: "hypercortisolism" EXACT [] xref: EFO:1000797 xref: MESH:D000308 xref: NCI:C113208 is_a: DOID:3952 ! adrenal cortex disease [Term] id: DOID:3948 name: adrenocortical carcinoma def: "An adrenal cortex cancer that forms in the outer layer of tissue of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://cancergenome.nih.gov/cancersselected/AdrenocorticalCarcinoma "DO", http://www.cancer.gov/cancertopics/types/adrenocortical "DO"] synonym: "adrenal cortex carcinoma" EXACT [] synonym: "adrenal cortical carcinoma" EXACT [] synonym: "adrenal cortical carcinomas" EXACT [] synonym: "adrenocortical carcinomas" EXACT [] synonym: "carcinoma of the adrenal cortex" EXACT [] synonym: "EFO:1000796" EXACT [] xref: EFO:0003093 xref: EFO:1000796 xref: GARD:558 xref: MESH:D018268 xref: NCI:C22992 xref: NCI:C9325 is_a: DOID:299 ! adenocarcinoma is_a: DOID:660 ! adrenal cortex cancer [Term] id: DOID:3950 name: adrenal carcinoma def: "An adrenal cancer that is located_in the cortex (steroid hormone-producing tissue) of the adrenal gland and that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Adrenocortical_carcinoma "DO"] synonym: "carcinoma of the adrenal gland" EXACT [] is_a: DOID:305 ! carcinoma is_a: DOID:3953 ! adrenal gland cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:3951 name: acute myocarditis xref: ICD10CM:I40 xref: ICD9CM:422 xref: NCI:C35206 is_a: DOID:820 ! myocarditis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3952 name: adrenal cortex disease def: "An adrenal gland disease that is located_in the adrenal cortex. (DO)" [https://accessmedicine.mhmedical.com/content.aspx?bookid=961§ionid=53555702 "DO", MESH:D000303] synonym: "adrenal cortex diseases" EXACT [] xref: MESH:D000303 is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:3953 name: adrenal gland cancer def: "An endocrine gland cancer located_in the adrenal glands which are located above the kidneys. (DO)" [http://en.wikipedia.org/wiki/Adrenal_gland "DO"] synonym: "adrenal cancer" EXACT [] synonym: "adrenal cancers" EXACT [] synonym: "adrenal gland cancers" EXACT [] synonym: "cancer of the adrenal gland" EXACT [] synonym: "malignant adrenal tumor" EXACT [NCI2004_11_17:C9338] synonym: "malignant neoplasm of adrenal gland" EXACT [] xref: EFO:0003850 xref: GARD:5751 xref: ICD10CM:C74 xref: ICD9CM:194.0 xref: NCI:C2859 xref: NCI:C9338 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:9000362 ! Adrenal Gland Neoplasms created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:3959 name: adrenal cortical adenocarcinoma def: "An adrenocortical carcinoma that originates in the cortex of the adrenal gland and derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adrenocortical_carcinoma "DO"] synonym: "adrenal cortex adenocarcinoma" EXACT [] synonym: "EFO:1000796" EXACT [] xref: EFO:1000796 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3948 ! adrenocortical carcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:396 name: Loeffler endocarditis def: "A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. (DO)" [http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_endocarditis "DO"] synonym: "eosinophilic endomyocardial disease" EXACT [] xref: ICD10CM:I42.3 xref: NCI:C27044 is_a: DOID:397 ! restrictive cardiomyopathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:3962 name: follicular thyroid carcinoma def: "A differentiated thyroid gland carcinoma that has_material_basis_in follicular cells. (DO)" [http://en.wikipedia.org/wiki/Follicular_thyroid_cancer "DO"] synonym: "EFO:0000501" EXACT [] synonym: "follicular adenocarcinoma" EXACT [] synonym: "follicular adenocarcinomas" EXACT [] synonym: "follicular adenocarcinoma, well differentiated" EXACT [] synonym: "follicular carcinoma" EXACT [] synonym: "follicular carcinoma of the thyroid gland" EXACT [] synonym: "follicular thyroid carcinomas" EXACT [] synonym: "poorly differentiated follicular thyroid carcinoma" NARROW [] synonym: "thyroid adenocarcinoma" EXACT [] synonym: "thyroid gland follicular carcinoma" EXACT [] xref: EFO:0000501 xref: EFO:1002016 xref: ICD11:2D10.0 xref: ICDO:8330/3 xref: MESH:D018263 xref: MONDO:0005034 xref: NCI:C132275 xref: NCI:C8054 is_a: DOID:0080525 ! differentiated high-grade thyroid carcinoma [Term] id: DOID:3963 name: thyroid gland carcinoma def: "A thyroid gland cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "EFO:0002892" EXACT [] synonym: "thyroid carcinoma" EXACT [] synonym: "thyroid carcinomas" EXACT [] synonym: "Thyroid Gland Squamous Cell Carcinoma" NARROW [] synonym: "thyroid head and neck cancer" EXACT [] xref: EFO:0002892 xref: EFO:1000586 xref: EFO:1000589 xref: EFO:1000594 xref: NCI:C4815 is_a: DOID:1781 ! thyroid cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:3964 name: trabecular follicular adenocarcinoma synonym: "trabecular follicular carcinoma" EXACT [] xref: NCI:C46095 is_a: DOID:3962 ! follicular thyroid carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:3965 name: Merkel cell carcinoma def: "A carcinoma arising from MERKEL CELLS located in the basal layer of the epidermis and occurring most commonly as a primary neuroendocrine carcinoma of the skin. Merkel cells are tactile cells of neuroectodermal origin and histologically show neurosecretory granules. The skin of the head and neck are a common site of Merkel cell carcinoma, occurring generally in elderly patients. (Holland et al., Cancer Medicine, 3d ed, p1245)" [MESH:D015266] synonym: "Merkel Cell Cancer" EXACT [] synonym: "Merkel Cell Tumor" EXACT [] synonym: "Merkle Tumors" EXACT [] synonym: "trabecular adenocarcinoma" EXACT [] synonym: "trabecular carcinoma" EXACT [] xref: EFO:1001471 xref: GARD:9266 xref: ICDO:8247/3 xref: MESH:D015266 xref: NCI:C4068 xref: NCI:C9231 is_a: DOID:1800 ! neuroendocrine carcinoma is_a: DOID:3451 ! skin carcinoma is_a: DOID:9000386 ! Polyomavirus Infections is_a: DOID:9004886 ! Tumor Virus Infections [Term] id: DOID:3969 name: papillary thyroid carcinoma def: "A differentiated thyroid gland carcinoma that is characterized by the small mushroom shape of the tumor which has a stem attached to the epithelial layer and arises from the follicular cells of the thyroid gland. (DO)" [http://cancergenome.nih.gov/cancersselected/thyroid "DO", http://en.wikipedia.org/wiki/Papillary_thyroid_cancer "DO", https://www.ncbi.nlm.nih.gov/pubmed/21455196 "DO"] synonym: "EFO:0000641" EXACT [] synonym: "familial nonmedullary thyroid cancer" EXACT [] synonym: "nonmedullary thyroid carcinoma" EXACT [] synonym: "NONMEDULLARY THYROID CARCINOMA, PAPILLARY" EXACT [] synonym: "PACT" EXACT [] synonym: "papillary carcinoma of the thyroid gland" EXACT [] synonym: "papillary carcinoma of thyroid" EXACT [] synonym: "papillary familial nonmedullary thyroid cancer" EXACT [] synonym: "papillary thyroid cancer" EXACT [] synonym: "PTC" EXACT [] synonym: "thyroid gland papillary carcinoma" EXACT [] synonym: "TPC" EXACT [] xref: EFO:0000641 xref: GARD:12027 xref: ICD11:2D10.1 xref: MESH:D000077273 xref: MIM:PS188550 xref: MONDO:0005075 xref: NCI:C4035 is_a: DOID:0080525 ! differentiated high-grade thyroid carcinoma is_a: DOID:3112 ! papillary adenocarcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:397 name: restrictive cardiomyopathy def: "An intrinsic cardiomyopathy characterized by impaired ventricular filling, with normal or decreased diastolic volume of either or both ventricles typically resulting from increased stiffness of the myocardium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8995091 "DO"] synonym: "constrictive cardiomyopathy" EXACT [] synonym: "familial restrictive cardiomyopathy" NARROW [] synonym: "Non-familial restrictive cardiomyopathy" NARROW [] synonym: "primary restrictive cardiomyopathy" EXACT [] synonym: "RCM" EXACT [] synonym: "restrictive cardiomyopathies" EXACT [] xref: EFO:0002630 xref: EFO:1001473 xref: ICD10CM:I42.5 xref: MESH:D002313 xref: MIM:PS115210 xref: NCI:C62798 xref: ORDO:217632 xref: ORDO:75249 is_a: DOID:0060036 ! intrinsic cardiomyopathy [Term] id: DOID:3973 name: medullary thyroid carcinoma def: "A thyroid gland carcinoma that has_material_basis_in parafollicular cells. (DO)" [http://en.wikipedia.org/wiki/Medullary_thyroid_cancer "DO", https://www.ncbi.nlm.nih.gov/books/NBK459354/ "DO"] synonym: "medullary carcinoma of the thyroid gland" EXACT [] synonym: "medullary thyroid cancer (MTC)" EXACT [] synonym: "Parafollicular cell carcinoma" EXACT [] synonym: "thyroid gland medullary carcinoma" EXACT [] synonym: "thyroid medullary cancer" EXACT [] synonym: "thyroid medullary carcinoma" EXACT [] synonym: "ultimobranchial thyroid tumor" EXACT [] synonym: "ultimobranchial thyroid tumour" EXACT [] xref: ICDO:8345/3 xref: MESH:C536914 xref: MONDO:0015277 xref: NCI:C161006 xref: NCI:C24170 xref: NCI:C3879 is_a: DOID:3963 ! thyroid gland carcinoma is_a: DOID:9006195 ! Medullary Carcinomas [Term] id: DOID:3978 name: extrinsic cardiomyopathy def: "A cardiomyopathy that is characterized by the pathology occurring outside of the myocardium. (DO)" [http://en.wikipedia.org/wiki/Cardiomyopathy "DO"] xref: ICD9CM:425.8 is_a: DOID:0050700 ! cardiomyopathy created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:3981 name: pantothenate kinase-associated neurodegeneration alt_id: DOID:9004936 alt_id: MIM:234200 def: "A neurodegeneration with brain iron accumulation that has_material_basis_in autosomal recessive inheritance of mutation in the PANK2 gene on chromosome 20p13. (DO)" [http://en.wikipedia.org/wiki/Pantothenate_kinase-associated_neurodegeneration "DO"] synonym: "brain iron accumulation type I syndrome" EXACT [] synonym: "Hallervorden Spatz disease" EXACT [] synonym: "Hallervorden Spatz syndrome" EXACT [] synonym: "Harp Syndrome" EXACT [] synonym: "Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration" EXACT [] synonym: "juvenile-onset neuroaxonal dystrophies" EXACT [] synonym: "juvenile-onset neuroaxonal dystrophy" EXACT [] synonym: "NBIA1" EXACT [] synonym: "Neurodegeneration With Brain Iron Accumulation 1" EXACT [] synonym: "neurodegeneration with brain iron accumulation type 1" EXACT [] synonym: "pigmentary pallidal atrophy" EXACT [] synonym: "pigmentary pallidal degeneration" EXACT [] synonym: "PKAN" EXACT [] synonym: "PKAN neuroaxonal dystrophy, juvenile onset" EXACT [] xref: GARD:6564 xref: MESH:C564603 xref: MESH:D006211 xref: NCI:C84988 xref: NCI:C8967 xref: ORDO:157850 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation is_a: DOID:480 ! movement disease is_a: DOID:679 ! basal ganglia disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:3982 name: Meige syndrome def: "A cranio-facial dystonia that is accompanied by blepharospasm. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK513358/ "DO"] synonym: "Blepharospasm Oromandibular Dyskinesia" EXACT [] synonym: "blepharospasm-oromandibular dyskinesias" EXACT [] synonym: "Blepharospasm Oromandibular Dystonia" EXACT [] synonym: "Blepharospasm-Oromandibular Dystonias" EXACT [] synonym: "Blepharospasm Oromandibular Dystonia Syndrome" EXACT [] synonym: "Blepharospasm-Oromandibular Dystonia Syndromes" EXACT [] synonym: "Brueghel Syndrome" EXACT [] synonym: "Idiopathic Blepharospasm Oromandibular Dystonia Syndrome" EXACT [] synonym: "Idiopathic Orofacial Dyskinesia" EXACT [] synonym: "idiopathic orofacial dyskinesias" EXACT [] xref: GARD:7008 xref: MESH:D008538 is_a: DOID:0050845 ! cranio-facial dystonia is_a: DOID:225 ! syndrome is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:3983 name: oesophagostomiasis def: "A parasitic helminthiasis infectious disease that involves infection of the intestine in goats, pigs and humans by the nematode Oesophagostomum bifurcum. The symptoms are a low-grade fever, tenderness in the lower-right quadrant and painless cutaneous masses in the lower abdominal region. Rarely, Oesophagostomum spp will perforate the bowel wall, causing purulent peritonitis or migrate to the skin, producing cutaneous nodules. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Oesophagostomiasis.htm "DO"] synonym: "infection by Oesophagostomum" EXACT [] synonym: "oesophagostomiases" EXACT [] xref: EFO:0007400 xref: MESH:D009814 is_a: DOID:9003369 ! Strongylida Infections [Term] id: DOID:3985 name: ostertagiasis def: "A trichostrongyloidiasis that involves parasitic infection of the ruminant gastrointestinal tract by nematodes of the genus Ostertagia. (DO)" [http://jvdi.org/cgi/reprint/1/2/195.pdf "DO"] synonym: "ostertagiases" EXACT [] xref: EFO:0007414 xref: MESH:D010029 is_a: DOID:1255 ! trichostrongyloidiasis [Term] id: DOID:399 name: tuberculosis alt_id: MESH:C536092 alt_id: MIM:300259 alt_id: MIM:607948 alt_id: MIM:607949 alt_id: MIM:611046 alt_id: MIM:612929 def: "A primary bacterial infectious disease that is located_in lungs, located_in lymph nodes, located_in pericardium, located_in brain, located_in pleura or located_in gastrointestinal tract, has_material_basis_in Mycobacterium tuberculosis, which is transmitted_by droplets released into the air when an infected person coughs or sneezes. (DO)" [https://www.merckmanuals.com/home/infections/tuberculosis-and-related-infections/tuberculosis-tb "DO"] synonym: "Bcg infection, tuberculoid, antibiotic-responsive" EXACT [] synonym: "Koch's disease" EXACT [] synonym: "Koch disease" EXACT [] synonym: "Kochs Disease" EXACT [] synonym: "MTBS1" RELATED [] synonym: "MTBS2" RELATED [] synonym: "MTBS3" RELATED [] synonym: "MTBSX" RELATED [] synonym: "mycobacterium tuberculosis, protection against" RELATED [] synonym: "Mycobacterium Tuberculosis, Susceptibility To" EXACT [] synonym: "Mycobacterium Tuberculosis, Susceptibility To, 1" RELATED [] synonym: "Mycobacterium Tuberculosis, Susceptibility To, 2" RELATED [] synonym: "Mycobacterium Tuberculosis, Susceptibility To, 3" RELATED [] synonym: "Mycobacterium Tuberculosis, Susceptibility To Infection By" RELATED [] synonym: "mycobacterium tuberculosis, susceptibility to, X-linked" RELATED [] synonym: "tuberculoses" EXACT [] synonym: "tuberculosis, susceptibility to" RELATED [] xref: EFO:0000774 xref: GARD:7827 xref: MESH:D014376 xref: MONDO:0018076 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9001415 ! Mycobacterium Infections is_a: DOID:9002174 ! Disease Susceptibility [Term] id: DOID:3996 name: urinary system cancer def: "An organ system cancer that is located_in the kidneys, ureteres, bladder or urethra. (DO)" [http://en.wikipedia.org/wiki/Urinary_system "DO"] synonym: "cancer of the urinary tract" EXACT [] synonym: "Cancer of Urinary Tract" EXACT [] synonym: "EFO:1000363" EXACT [] synonym: "Urinary Tract Cancer" EXACT [] synonym: "urinary tract cancers" EXACT [] synonym: "Urological Cancer" EXACT [] synonym: "urological cancers" EXACT [] synonym: "urologic cancer" EXACT [] synonym: "urologic cancers" EXACT [] synonym: "urothelial cancer" EXACT [] xref: EFO:1000363 xref: ICD10CM:C68.9 xref: ICD9CM:189.9 is_a: DOID:0050686 ! organ system cancer is_a: DOID:18 ! urinary system disease is_a: DOID:9004643 ! Urologic Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:3998 name: Bartholin's gland transitional cell carcinoma def: "A Bartholin's gland carcinoma that derives_from transitional epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/articles/PMC4081365/ "DO"] synonym: "Bartholin gland transitional cell carcinoma" EXACT [] xref: NCI:C40297 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:3999 ! Bartholin's gland carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:3999 name: Bartholin's gland carcinoma def: "A vulva carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in Bartholin's gland. (DO)" [http://en.wikipedia.org/wiki/Bartholin%27s_gland "DO", http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "Bartholin gland carcinoma" EXACT [] synonym: "carcinoma of Bartholin's gland" EXACT [] synonym: "EFO:1000103" EXACT [] xref: EFO:1000103 xref: NCI:C9055 is_a: DOID:1294 ! vulva carcinoma is_a: DOID:60003 ! Bartholin's gland cancer [Term] id: DOID:4 name: disease alt_id: DOID:9007258 def: "A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3041577/ "DO"] synonym: "diseases" EXACT [] xref: EFO:0000408 xref: EFO:0000411 xref: MESH:C xref: MESH:D004194 xref: NCI:C2991 [Term] id: DOID:4000 name: ovary transitional cell carcinoma alt_id: DOID:4002 def: "An ovarian epithelial cancer that derives_from epithelial transitional cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3362466/ "DO"] synonym: "EFO:1000435" EXACT [] synonym: "malignant ovarian transitional cell neoplasm" EXACT [] synonym: "ovarian transitional cell cancer" EXACT [] synonym: "ovarian transitional cell neoplasm" EXACT [] synonym: "transitional cell carcinoma of ovary" EXACT [] xref: EFO:1000435 xref: NCI:C40089 xref: NCI:C5240 xref: NCI:C7280 is_a: DOID:2152 ! ovary epithelial cancer is_a: DOID:2671 ! transitional cell carcinoma [Term] id: DOID:4001 name: ovarian carcinoma def: "An ovarian cancer that has_material_basis_in epithelial tissue and is located_in the ovary. (DO)" [https://www.cancer.gov/types/ovarian "DO"] synonym: "EFO:0001075" EXACT [] synonym: "epithelial ovarian carcinoma" RELATED [] synonym: "undifferentiated ovarian carcinoma" NARROW [] xref: EFO:0001075 xref: EFO:1000605 xref: MESH:D000077216 xref: NCI:C4908 is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm is_a: DOID:305 ! carcinoma [Term] id: DOID:4003 name: Schneiderian carcinoma def: "Rare variant of sinonasal squamous cell carcinoma in sinonasal tract; usually develops de novo, rarely arises from preexisting inverted papilloma." [url:http\://www.pathologyoutlines.com/topic/nasalcylindrical.html "RGD"] synonym: "cylindrical cell carcinoma" EXACT [] synonym: "Ringertz carcinoma" EXACT [] xref: ICDO:8121/3 xref: NCI:C54287 is_a: DOID:1357 ! maxillary sinus cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:4005 name: endometrial transitional cell carcinoma def: "An endometrial carcinoma that derives_from transitional epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Transitional_cell_carcinoma "DO"] xref: NCI:C40154 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:2871 ! endometrial carcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:4006 name: bladder urothelial carcinoma def: "A bladder carcinoma that has_material_basis_in transitional cells located_in the lining of the bladder. (DO)" [http://cancergenome.nih.gov/cancersselected/UrothelialBladderCarcinoma "DO", http://www.cancer.gov/dictionary?cdrid=46629 "DO"] synonym: "bladder transitional cell carcinoma" RELATED [] synonym: "EFO:0006544" EXACT [] synonym: "transitional cell carcinoma of bladder" RELATED [] synonym: "urinary bladder urothelial carcinoma" RELATED [] xref: EFO:0006544 xref: NCI:C39851 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:4007 ! bladder carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:4007 name: bladder carcinoma def: "A urinary bladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [https://www.mayoclinic.org/diseases-conditions/bladder-cancer/symptoms-causes/syc-20356104 "DO"] synonym: "carcinoma of bladder" EXACT [] synonym: "carcinoma of urinary bladder" EXACT [] synonym: "URINARY BLADDER CARCINOMA" EXACT [] xref: EFO:0000292 xref: MONDO:0004986 xref: NCI:C4912 xref: RDO:9001955 is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:4008 name: fallopian tube transitional cell carcinoma def: "A fallopian tube carcinoma that derives_from epithelial transitional cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26894303/ "DO"] xref: NCI:C40104 is_a: DOID:1963 ! fallopian tube carcinoma is_a: DOID:2671 ! transitional cell carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:401 name: multidrug-resistant tuberculosis def: "A tuberculosis that is resistant to isoniazid and rifampicin, the two most powerful first-line anti-TB drugs. (DO)" [http://en.wikipedia.org/wiki/Multidrug-resistant_tuberculosis "DO"] synonym: "drug-resistant tuberculosis" EXACT [] synonym: "MDR tuberculosis" EXACT [] synonym: "multi-drug resistant tuberculosis" EXACT [] xref: EFO:0007381 xref: MESH:D018088 xref: MONDO:0005861 xref: NCI:C128415 is_a: DOID:399 ! tuberculosis [Term] id: DOID:4011 name: prostate transitional cell carcinoma def: "A prostate carcinoma that derives_from transitional epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6506393 "DO"] synonym: "transitional cell carcinoma of prostate" EXACT [] is_a: DOID:10286 ! prostate carcinoma is_a: DOID:2671 ! transitional cell carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:4012 name: papillary transitional carcinoma def: "A transitional cell carcinoma that has several papillary fronds with central fibrovascular core lined by transitional type epithelium. (DO)" [https://www.healthline.com/health/papillary-urothelial-carcinoma "DO"] synonym: "EFO:1000450" EXACT [] synonym: "papillary transitional cell carcinoma" EXACT [] xref: EFO:1000450 xref: NCI:C4122 is_a: DOID:2671 ! transitional cell carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:4013 name: urethra transitional cell carcinoma def: "An urethra cancer that is characterized by cancer cells forming in the renal pelvis and ureter. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31950597/ "DO", https://pubmed.ncbi.nlm.nih.gov/9730148/ "DO"] synonym: "urethral transitional cell carcinoma" EXACT [] xref: NCI:C6166 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:734 ! urethra cancer created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:4014 name: sarcomatoid transitional cell carcinoma def: "A transitional cell carcinoma that has sarcoma-like components arising from the malignant transitional epithelium. (DO)" [http://www.sciencedirect.com/science/article/pii/S0090429505013439 "DO", https://pubmed.ncbi.nlm.nih.gov/16504263/ "DO"] synonym: "transitional spindle cell carcinoma" RELATED [] xref: NCI:C4120 is_a: DOID:2671 ! transitional cell carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:4015 name: sarcomatoid carcinoma def: "A carcinoma that is characterized by the presence of spindle cells and anaplastic morphologic features. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27004 "DO"] synonym: "EFO:1000520" EXACT [] synonym: "spindle cell carcinoma" EXACT [] synonym: "spindle cell carcinomas" EXACT [] xref: EFO:1000520 xref: NCI:C27004 is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:402 name: oral tuberculosis def: "A gastrointestinal tuberculosis that involves formation of painful ulcerative mucosal lesions located in tongue, located in palate, located in maxilla or located in mandible. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16900894 "DO"] synonym: "oral tuberculoses" EXACT [] xref: EFO:0007407 xref: MESH:D014393 is_a: DOID:403 ! mouth disease is_a: DOID:404 ! gastrointestinal tuberculosis [Term] id: DOID:4022 name: ureterocele alt_id: MIM:191650 def: "A ureteral disease that is characterized_as a congenital anomaly in which the distal end of the ureter swells as it enters the bladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23969704 "DO"] synonym: "ureteroceles" EXACT [] xref: EFO:1001227 xref: MESH:D014518 xref: NCI:C123159 is_a: DOID:1426 ! ureteral disease [Term] id: DOID:4023 name: linitis plastica def: "A condition where the stomach wall becomes thickened, rubbery and loses its ability to distend. The stomach assumes a 'leather bottle' shape. It is most often seen in adenocarcinoma of the stomach. The term is often used synonymously with diffuse adenocarcinoma of the stomach." [MESH:D008039] synonym: "leather-bottle stomach" EXACT [] xref: ICDO:8142/3 xref: MESH:D008039 xref: NCI:C3190 is_a: DOID:4024 ! scirrhous adenocarcinoma is_a: DOID:6217 ! gastric diffuse adenocarcinoma [Term] id: DOID:4024 name: scirrhous adenocarcinoma def: "An adenocarcinoma that results in a hard structure owing to the formation of dense connective tissue in the stroma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/34084475/ "DO"] synonym: "adenocarcinoma with productive fibrosis" EXACT [] synonym: "EFO:0007478" EXACT [] synonym: "Scirrhous Adenocarcinomas" EXACT [] synonym: "Scirrhous Carcinoma" EXACT [] synonym: "Scirrhous Carcinomas" EXACT [] xref: EFO:0007478 xref: ICDO:8141/3 xref: MESH:D002293 xref: NCI:C2928 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:4028 name: angioma serpiginosum alt_id: MIM:300652 def: "A skin hemangioma that is characterized by the presence of small red dots that cluster together to form a linear or snake-like array or ring-shaped pattern located_in the blood vessels of the skin. (DO)" [http://www.dermnetnz.org/vascular/angioma-serpiginosa.html "DO"] synonym: "angioma serpiginosum of skin" EXACT [] synonym: "Angioma Serpiginosum, X-Linked" EXACT [] xref: ICD10CM:L81.7 xref: MESH:C536366 xref: NCI:C3926 xref: ORDO:95429 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:471 ! skin hemangioma is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:4029 name: gastritis def: "A stomach disease that is an inflammation of the lining of the stomach. (DO)" [http://en.wikipedia.org/wiki/Gastritis "DO"] synonym: "acute gastric mucosal erosion" NARROW [] synonym: "chronic gastritis" NARROW [] synonym: "erosive gastritis" NARROW [] synonym: "erosive gastropathy" NARROW [] synonym: "Gastritides" EXACT [] xref: EFO:0000217 xref: EFO:0000337 xref: ICD10CM:K29.7 xref: MESH:D005756 xref: NCI:C26780 is_a: DOID:2326 ! gastroenteritis is_a: DOID:76 ! stomach disease [Term] id: DOID:403 name: mouth disease def: "A gastrointestinal system disease that is located_in the mouth. (DO)" [http://en.wikipedia.org/wiki/Oral_and_maxillofacial_pathology "DO"] synonym: "mouth diseases" EXACT [] xref: EFO:1001047 xref: MESH:D009059 xref: NCI:C27641 xref: NCI:C3240 is_a: DOID:0050155 ! sensory system disease is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9001349 ! Stomatognathic Diseases [Term] id: DOID:4030 name: eosinophilic gastritis xref: ICD9CM:535.7 xref: NCI:C27052 is_a: DOID:4029 ! gastritis is_a: DOID:9001371 ! Eosinophilia created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:4031 name: eosinophilic gastroenteritis synonym: "Eosinophilic enteritis" EXACT [] synonym: "Eosinophilic Enteropathy" EXACT [] synonym: "Eosinophilic gastroenteropathy" EXACT [] xref: ICD9CM:558.41 xref: MESH:C535952 xref: NCI:C35330 is_a: DOID:2326 ! gastroenteritis is_a: DOID:4029 ! gastritis is_a: DOID:9001371 ! Eosinophilia is_a: DOID:9007156 ! Enteritis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:4033 name: bacterial gastritis def: "A gastritis that involves inflammation of the stomach lining caused by bacteria. The disease has_symptom abdominal pain, has_symptom indigestion, has_symptom ulcer formation, has_symptom abdominal bloating, has_symptom nausea and has_symptom vomiting. (DO)" [http://www.merck.com/mmhe/sec09/ch121/ch121b.html "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/gastritis-gastropathy/definition-facts "DO"] xref: NCI:C27340 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:4029 ! gastritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4034 name: fungal gastritis def: "A gastrointestinal system infectious disease that involves inflammation of the stomach lining caused by fungal infection in immunocompromised patients. (DO)" [http://www.merck.com/mmpe/sec02/ch013/ch013c.html "DO"] xref: NCI:C27342 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:4029 ! gastritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4035 name: lymphocytic gastritis def: "An uncommon chronic gastritis characterized by lymphocytosis of foveolar and surface epithelium." [] xref: NCI:C27051 is_a: DOID:4029 ! gastritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4037 name: necrotizing gastritis xref: NCI:C27329 is_a: DOID:4029 ! gastritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4038 name: granulomatous gastritis xref: NCI:C27348 is_a: DOID:4029 ! gastritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:404 name: gastrointestinal tuberculosis def: "An abdominal tuberculosis that results_in infection located_in gastrointestinal tract. The infection has_symptom abdominal pain, has_symptom weight loss, has_symptom fever, has_symptom anorexia, has_symptom constipation, has_symptom nausea, and has_symptom vomiting. (DO)" [http://smj.sma.org.sg/5006/5006pe1.pdf "DO", https://www.ncbi.nlm.nih.gov/pubmed/12864956 "DO"] synonym: "tuberculosis of gastrointestinal tract" EXACT [] synonym: "tuberculosis of intestines, peritoneum, and mesenteric glands" EXACT [] xref: EFO:0007280 xref: MESH:D014385 is_a: DOID:0050599 ! abdominal tuberculosis is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:4043 name: skeletal muscle cancer synonym: "malignant tumor of skeletal muscle" EXACT [] xref: NCI:C6516 is_a: DOID:4044 ! skeletal muscle neoplasm is_a: DOID:4045 ! muscle cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:4044 name: skeletal muscle neoplasm synonym: "tumor of skeletal muscle" EXACT [] xref: NCI:C6514 is_a: DOID:461 ! muscle benign neoplasm is_a: DOID:9003582 ! Muscle Tissue Neoplasms created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:4045 name: muscle cancer alt_id: DOID:9008783 def: "A musculoskeletal system cancer that is located_in muscle. (DO)" [http://en.wikipedia.org/wiki/Muscle "DO"] synonym: "cancer of muscle" EXACT [] synonym: "EFO:0007384" EXACT [] synonym: "malignant neoplasm of muscle" EXACT [] synonym: "malignant tumor of muscle" EXACT [] synonym: "malignant tumor of the muscle" EXACT [] synonym: "muscle cancers" EXACT [] synonym: "myosarcoma" EXACT [] synonym: "myosarcomas" EXACT [] xref: EFO:0007384 xref: ICD10CM:C49 xref: MESH:D009217 xref: NCI:C4883 is_a: DOID:0060100 ! musculoskeletal system cancer is_a: DOID:1115 ! sarcoma is_a: DOID:9003582 ! Muscle Tissue Neoplasms created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:4047 name: liver rhabdomyosarcoma def: "A rhabdomyosarcoma and sarcoma of liver that are located_in the liver. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/childrhabdomyosarcoma/HealthProfessional/page6 "DO"] synonym: "rhabdomyosarcoma of liver" EXACT [] xref: NCI:C5834 is_a: DOID:270 ! liver sarcoma is_a: DOID:3247 ! rhabdomyosarcoma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:4048 name: central nervous system rhabdomyosarcoma synonym: "rhabdomyosarcoma of the CNS" EXACT [] xref: NCI:C5464 is_a: DOID:2133 ! central nervous system sarcoma is_a: DOID:3247 ! rhabdomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4049 name: mediastinum rhabdomyosarcoma def: "A rhabdomyosarcoma that is located_in the mediastinum and affects children and adolescents. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28024111/ "DO"] synonym: "rhabdomyosarcoma of mediastinum" EXACT [] xref: NCI:C6617 is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:4050 ! mediastinum sarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4050 name: mediastinum sarcoma def: "A sarcoma and malignant mediastinal mesenchymnal tumor that is located_in the mediastinum. (DO)" [https://www.sciencedirect.com/science/article/pii/S1556086415305220 "DO"] synonym: "sarcoma of mediastinum" EXACT [] xref: NCI:C6606 is_a: DOID:1115 ! sarcoma is_a: DOID:5559 ! mediastinal cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4051 name: alveolar rhabdomyosarcoma alt_id: MIM:268220 def: "A form of RHABDOMYOSARCOMA occurring mainly in adolescents and young adults, affecting muscles of the extremities, trunk, orbital region, etc. It is extremely malignant, metastasizing widely at an early stage. Few cures have been achieved and the prognosis is poor. 'Alveolar' refers to its microscopic appearance simulating the cells of the respiratory alveolus. (Holland et al., Cancer Medicine, 3d ed, p2188)" [MESH:D018232] synonym: "alveolar childhood rhabdomyosarcoma" EXACT [] synonym: "alveolar rhabdomyosarcomas" EXACT [] synonym: "EFO:0000248" EXACT [] synonym: "pediatric alveolar rhabdomyosarcoma" EXACT [] synonym: "rhabdomyosarcoma 2" EXACT [] synonym: "RMS2" EXACT [] synonym: "RMSA" EXACT [] xref: EFO:0000248 xref: GARD:4701 xref: ICDO:8920/3 xref: MESH:D018232 xref: NCI:C3749 xref: NCI:C7958 is_a: DOID:3247 ! rhabdomyosarcoma [Term] id: DOID:4053 name: rectum rhabdomyosarcoma def: "A rectum sarcoma that is located_in the rectum in which the cancer cells are thought to arise from skeletal muscle progenitors. (DO)" [http://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO"] synonym: "rhabdomyosarcoma of rectum" EXACT [] xref: NCI:C5627 is_a: DOID:1995 ! rectum sarcoma is_a: DOID:3247 ! rhabdomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4054 name: prostate sarcoma def: "A prostate cancer that is located_in the prostate. (DO)" [https://radiopaedia.org/articles/prostate-sarcoma "DO"] synonym: "sarcoma of the prostate" EXACT [] xref: NCI:C7731 is_a: DOID:10283 ! prostate cancer is_a: DOID:1115 ! sarcoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:4055 name: ectomesenchymoma synonym: "rhabdomyosarcoma with ganglionic differentiation" EXACT [] xref: ICDO:8921/3 xref: NCI:C4716 is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor [Term] id: DOID:4057 name: gallbladder rhabdomyosarcoma def: "A gallbladder sarcoma that is located_in the gallbladder that has_material_basis_in cells that normally develop into skeletal (voluntary) muscles. (DO)" [http://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO", https://gut.bmj.com/content/35/6/854 "DO"] synonym: "rhabdomyosarcoma of the gallbladder" EXACT [] xref: NCI:C5839 is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:4058 ! gallbladder sarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4058 name: gallbladder sarcoma def: "A sarcoma that is located_in the gallbladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19194282 "DO"] synonym: "malignant mesenchymal tumor of gallbladder" EXACT [NCI2004_11_17:C5736] xref: NCI:C5736 xref: RDO:9003176 is_a: DOID:1115 ! sarcoma is_a: DOID:3121 ! gallbladder cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4059 name: ovary rhabdomyosarcoma def: "An ovary sarcoma that arises from skeletal muscle progenitors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9553806 "DO"] synonym: "rhabdomyosarcoma of ovary" EXACT [] xref: NCI:C5236 is_a: DOID:2146 ! ovary sarcoma is_a: DOID:3247 ! rhabdomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4060 name: breast rhabdomyosarcoma def: "A breast sarcoma that arises from skeletal muscle cells. (DO)" [https://en.wikipedia.org/wiki/Rhabdomyosarcoma "DO"] synonym: "Rhabdomyosarcoma of the breast" EXACT [NCI2004_11_17:C5190] xref: NCI:C5190 xref: RDO:9003895 is_a: DOID:3017 ! breast sarcoma is_a: DOID:3247 ! rhabdomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4061 name: testis rhabdomyosarcoma def: "A testis sarcoma that arises from mesenchymal cells and is located_in the testis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21470524 "DO"] synonym: "rhabdomyosarcoma of testis" EXACT [] xref: NCI:C6378 is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:4062 ! testis sarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4062 name: testis sarcoma def: "A sarcoma and malignant neoplasm of testis that is located_in the testis. (DO)" [https://jamanetwork.com/journals/jama/fullarticle/462919 "DO"] synonym: "sarcoma of testis" EXACT [] xref: NCI:C6359 is_a: DOID:1115 ! sarcoma is_a: DOID:2998 ! testicular cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4064 name: bile duct sarcoma def: "A sarcoma and malignant tumor of extrahepatic bile duct that is located_in the bile duct. (DO)" [http://en.wikipedia.org/wiki/Sarcoma_botryoides "DO"] synonym: "sarcoma of the bile duct" EXACT [] xref: NCI:C5029 is_a: DOID:1115 ! sarcoma is_a: DOID:4606 ! bile duct cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4065 name: mixed type rhabdomyosarcoma synonym: "mixed embryonal rhabdomyosarcoma and alveolar rhabdomyosarcoma" EXACT [] xref: ICDO:8902/3 is_a: DOID:3247 ! rhabdomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4066 name: anus rhabdomyosarcoma def: "A rhabdomyosarcoma and sarcoma of the anus that is located_in the anus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422314/ "DO"] synonym: "rhabdomyosarcoma of anus" EXACT [] xref: NCI:C5610 is_a: DOID:3247 ! rhabdomyosarcoma is_a: DOID:4067 ! anus sarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4067 name: anus sarcoma def: "A sarcoma and malignant neoplasm of anus that is located_in the anus. (DO)" [http://en.wikipedia.org/wiki/Sarcoma "DO"] synonym: "sarcoma of anus" EXACT [] xref: NCI:C5611 is_a: DOID:1115 ! sarcoma is_a: DOID:14110 ! anus cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:407 name: hepatic tuberculosis def: "A gastrointestinal tuberculosis that involves infection located_in liver, which results in the formation of tuberculous granulomas. The infection has_symptom fever, has_symptom anorexia, has_symptom weight loss, has_symptom abdominal pain and has_symptom jaundice. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4425874/ "DO"] synonym: "hepatic tuberculoses" EXACT [] synonym: "tuberculosis of liver" EXACT [] xref: EFO:0007302 xref: MESH:D014386 is_a: DOID:404 ! gastrointestinal tuberculosis is_a: DOID:409 ! liver disease [Term] id: DOID:4071 name: duodenogastric reflux def: "Retrograde flow of duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the STOMACH." [MESH:D004383] synonym: "Duodenal Reflux" EXACT [] synonym: "Duodenal Refluxs" EXACT [] synonym: "Duodeno Gastric Reflux" EXACT [] xref: EFO:1000909 xref: MESH:D004383 is_a: DOID:4072 ! duodenum disease is_a: DOID:76 ! stomach disease [Term] id: DOID:4072 name: duodenum disease def: "An intestinal disease that is located_in the duodenum. (DO)" [https://medlineplus.gov/ency/article/002347.htm "DO", MESH:D004378] synonym: "duodenal disease" EXACT [] synonym: "duodenal diseases" EXACT [] synonym: "duodenum disorder" EXACT [] xref: MESH:D004378 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:4073 name: pancreatic cystadenocarcinoma synonym: "cystadenocarcinoma of pancreas" EXACT [SNOMEDCT_2005_07_31:235966007] xref: NCI:C3874 xref: RDO:9002948 is_a: DOID:3111 ! cystadenocarcinoma is_a: DOID:4074 ! pancreatic adenocarcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4074 name: pancreatic adenocarcinoma def: "A pancreatic carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of the pancreas" EXACT [] synonym: "EFO:1000044" EXACT [] synonym: "pancreas adenocarcinoma" EXACT [] xref: EFO:1000044 xref: NCI:C8294 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4905 ! pancreatic carcinoma [Term] id: DOID:4075 name: bile duct cystadenocarcinoma synonym: "biliary cystadenocarcinoma" EXACT [] xref: ICDO:8161/3 xref: NCI:C4130 is_a: DOID:3111 ! cystadenocarcinoma is_a: DOID:4896 ! bile duct adenocarcinoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:4078 name: tricuspid valve stenosis def: "A tricuspid valve disease that is characterized by the narrowing of the orifice of the tricuspid valve of the heart. This causes increased resistance to blood flow through the valve. (DO)" [http://en.wikipedia.org/wiki/Tricuspid_valve_stenosis "DO"] synonym: "tricuspid stenosis" EXACT [] synonym: "tricuspid valve stenoses" EXACT [] xref: EFO:0007525 xref: MESH:D014264 xref: NCI:C50783 is_a: DOID:0050826 ! tricuspid valve disease [Term] id: DOID:4079 name: heart valve disease def: "A heart disease involving one or more of the four valves of the heart (the aortic and mitral valves on the left and the pulmonary and tricuspid valves on the right). (DO)" [http://en.wikipedia.org/wiki/Heart_valve_disease "DO"] synonym: "heart valve diseases" EXACT [] synonym: "Valvular Heart Disease" EXACT [] synonym: "Valvular Heart Diseases" EXACT [] xref: EFO:0009551 xref: MESH:D006349 xref: NCI:C45525 is_a: DOID:114 ! heart disease [Term] id: DOID:4080 name: tricuspid valve insufficiency def: "A tricuspid valve disease that is characterized by failure of the heart's tricuspid valve to close properly during systole. As a result, with each heart beat, blood is pumped out from the right side of the heart in the opposite direction to normal. (DO)" [http://en.wikipedia.org/wiki/Tricuspid_insufficiency "DO"] synonym: "tricuspid incompetence" EXACT [] synonym: "tricuspid regurgitation" EXACT [] synonym: "tricuspid valve incompetence" EXACT [] synonym: "tricuspid valve regurgitation" EXACT [] xref: MESH:D014262 xref: NCI:C50842 xref: NCI:C50843 is_a: DOID:0050826 ! tricuspid valve disease [Term] id: DOID:4084 name: testicular trophoblastic tumor xref: NCI:C39934 is_a: DOID:2998 ! testicular cancer is_a: DOID:4085 ! trophoblastic neoplasm is_a: DOID:9004207 ! Testicular Neoplasms created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:4085 name: trophoblastic neoplasm def: "A germ cell and embryonal cancer that derives_from trophoblastic tissue. (DO)" [http://en.wikipedia.org/wiki/Trophoblastic_neoplasm "DO"] synonym: "Trophoblast Cancer" EXACT [] synonym: "trophoblast cancers" EXACT [] synonym: "Trophoblastic Cancer" EXACT [] synonym: "Trophoblastic Cancers" EXACT [] synonym: "trophoblastic neoplasms" EXACT [] synonym: "Trophoblastic Tumor" EXACT [] synonym: "Trophoblastic Tumors" EXACT [] synonym: "Trophoblast Neoplasm" EXACT [] synonym: "Trophoblast Neoplasms" EXACT [] synonym: "Trophoblast Tumor" EXACT [] synonym: "trophoblast tumors" EXACT [] xref: MESH:D014328 xref: NCI:C3422 is_a: DOID:3095 ! germ cell and embryonal cancer is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms is_a: DOID:9007134 ! Neoplastic Pregnancy Complications [Term] id: DOID:4086 name: testicular germ cell tumor non-seminomatous def: "A testicular germ cell cancer characterized by the absence of a seminomatous component. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24819978/ "DO"] synonym: "EFO:1000570" EXACT [] synonym: "Non-Seminomatous Lesion" NARROW [] xref: EFO:1000401 xref: EFO:1000570 xref: ICDO:9065/3 xref: NCI:C9313 xref: RDO:9003739 is_a: DOID:5557 ! testicular germ cell cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4087 name: testicular pure germ cell tumor xref: NCI:C39915 xref: RDO:9003740 is_a: DOID:5557 ! testicular germ cell cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:409 name: liver disease def: "Pathological processes of the LIVER. (DO)" [] synonym: "disorder of liver" EXACT [] synonym: "hepatic disorder" EXACT [] synonym: "liver diseases" EXACT [] synonym: "Liver Dysfunction" EXACT [] synonym: "Liver Dysfunctions" EXACT [] synonym: "PI M(MALTON)" RELATED [] xref: EFO:0001421 xref: ICD10CM:K70-K77 xref: ICD10CM:K76.9 xref: ICD9CM:573.9 xref: MESH:D008107 xref: NCI:C3196 is_a: DOID:28 ! endocrine system disease is_a: DOID:3118 ! hepatobiliary disease [Term] id: DOID:4090 name: agnosia def: "A communication disorder that is a loss of ability to recognize objects, persons, sounds, shapes, or smells while the specific sense is not defective nor is there any significant memory loss. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "agnosia for pain" EXACT [] synonym: "agnosia for smell" EXACT [] synonym: "agnosia for taste" EXACT [] synonym: "agnosia for tastes" EXACT [] synonym: "Agnosia for Temperature" EXACT [] synonym: "agnosias" EXACT [] synonym: "Body Image Agnosia" EXACT [] synonym: "body-image agnosias" EXACT [] synonym: "Developmental Agnosia" EXACT [] synonym: "developmental agnosias" EXACT [] synonym: "dyspraxia" EXACT [] synonym: "Dyspraxia syndrome" EXACT [] synonym: "Gustatory Agnosia" EXACT [] synonym: "Ideational Agnosia" EXACT [] synonym: "Ideational Agnosias" EXACT [] synonym: "Olfactory Agnosia" EXACT [] synonym: "Olfactory Agnosias" EXACT [] synonym: "position agnosia" EXACT [] synonym: "position agnosias" EXACT [] synonym: "sensory agnosia" EXACT [] synonym: "sensory agnosias" EXACT [] synonym: "visual disorientation syndrome" EXACT [] synonym: "visual disorientation syndromes" EXACT [] synonym: "visuospatial agnosia" EXACT [] synonym: "visuospatial agnosias" EXACT [] xref: EFO:0007136 xref: GARD:8 xref: ICD10CM:R48.1 xref: MESH:D000377 xref: NCI:C84542 is_a: DOID:2033 ! communication disorder is_a: DOID:9004523 ! Perceptual Disorders [Term] id: DOID:4109 name: tick infestation def: "A parasitic ectoparasitic infectious disease that involves parasitic infestation of blood feeding ticks of the families Ixodidae and Argasidae on animals and humans. Ticks are vectors of a number diseases, including Lyme disease, Q fever, Colorado tick fever, tularemia, tick-borne relapsing fever, babesiosis, ehrlichiosis and tick-borne meningoencephalitis, as well as anaplasmosis in cattle and canine jaundice. (DO)" [http://en.wikipedia.org/wiki/Tick "DO", http://www.dpd.cdc.gov/dpdx/HTML/Ticks.htm "DO"] synonym: "tick infestations" EXACT [] xref: EFO:0007508 xref: MESH:D013984 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:4110 name: parasitic ectoparasitic infectious disease def: "A parasitic infectious disease that is caused by organisms that live primarily on the surface of the host. (DO)" [http://en.wikipedia.org/wiki/Ectoparasitic_infestation "DO"] synonym: "ectoparasitic infestation" EXACT [] synonym: "ectoparasitic infestations" EXACT [] synonym: "ectoparasitism" EXACT [] xref: MESH:D004478 xref: MONDO:0002875 is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:4111 name: cervical adenosarcoma def: "A cervical carcinosarcoma that is located_in the cervix. (DO)" [https://pubmed.ncbi.nlm.nih.gov/17292949/ "DO"] synonym: "cervical Muellerian adenosarcoma" RELATED [] synonym: "cervical mullerian adenosarcoma" RELATED [] xref: NCI:C40229 is_a: DOID:4112 ! cervical carcinosarcoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:4112 name: cervical carcinosarcoma alt_id: DOID:6173 def: "A cervical cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18357808 "DO"] synonym: "cervical malignant mixed mesodermal mullerian tumor" EXACT [] synonym: "cervical malignant mixed Mullerian tumor" EXACT [] synonym: "cervical mixed epithelial and mesenchymal neoplasm" EXACT [] xref: NCI:C36097 xref: NCI:C40226 xref: NCI:C40228 is_a: DOID:4362 ! cervical cancer [Term] id: DOID:4113 name: uterine corpus adenosarcoma def: "An adenosarcoma and malignant uterine body mixed neoplasm that derives_from the glands that line the uterus. (DO)" [http://www.wrongdiagnosis.com/a/adenosarcoma_of_the_uterus/intro.htm "DO"] synonym: "adenosarcoma of uterine corpus" EXACT [] synonym: "uterine corpus mullerian adenosarcoma" EXACT [] xref: NCI:C6336 is_a: DOID:1974 ! adenosarcoma is_a: DOID:4114 ! uterine body mixed cancer created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:4114 name: uterine body mixed cancer def: "A uterine corpus cancer that has_material_basis_in more than one type of cell. (DO)" [http://en.wikipedia.org/wiki/Uterine_cancer "DO"] synonym: "malignant mixed tumor of corpus uteri" EXACT [] xref: NCI:C6311 is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:4115 name: ovarian mesodermal adenosarcoma def: "An ovarian carcinosarcoma that derives_from simultaneously or consecutively in mesodermal tissue and glandular epithelium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12360039 "DO"] synonym: "ovarian mullerian adenosarcoma" EXACT [] xref: NCI:C7317 xref: RDO:9001890 is_a: DOID:6170 ! ovarian carcinosarcoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:4117 name: vaginal adenosarcoma def: "A vaginal carcinosarcoma derives_from the glands that line the uterus. (DO)" [http://www.wrongdiagnosis.com/medical/mullerian_adenosarcoma_of_the_uterus.htm "DO"] xref: NCI:C40277 is_a: DOID:136 ! vaginal carcinosarcoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:4118 name: colon neuroendocrine neoplasm alt_id: RDO:9002027 synonym: "colonic neuroendocrine tumor" EXACT [] synonym: "Colon Neuroendocrine Tumor G1" NARROW [] synonym: "Colorectal Neuroendocrine Tumor G1" BROAD [] xref: EFO:1000188 xref: EFO:1000195 xref: NCI:C5697 is_a: DOID:235 ! colonic benign neoplasm is_a: DOID:4119 ! intestinal neuroendocrine benign tumor created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:4119 name: intestinal neuroendocrine benign tumor synonym: "Cecum Neuroendocrine Tumor G1" NARROW [] synonym: "intestinal neuroendocrine benign tumour" EXACT [] synonym: "neuroendocrine tumor of Intestine" EXACT [NCI2004_11_17:C5695] synonym: "neuroendocrine tumour of Intestine" EXACT [] xref: EFO:1000154 xref: NCI:C5695 xref: RDO:9003736 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:4610 ! intestinal benign neoplasm created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4123 name: nail disease def: "An integumentary system disease that is located_in nail. (DO)" [http://en.wikipedia.org/wiki/Nail_disease "DO"] synonym: "nail diseases" EXACT [] xref: ICD10CM:L60 xref: ICD9CM:703 xref: MESH:D009260 is_a: DOID:16 ! integumentary system disease is_a: DOID:37 ! skin disease [Term] id: DOID:4131 name: erythrasma def: "A pyoderma that is characterized by brown, scaly skin patches that are generalized or iterdigital (between the toes or fingers) and is caused by infection with corynebacterium minutissimum. (DO)" [https://en.wikipedia.org/wiki/Erythrasma "DO", https://www.ncbi.nlm.nih.gov/pubmed/30020724 "DO"] synonym: "infection due to corynebacterium minutissimum" EXACT [] xref: EFO:1000696 xref: ICD10CM:L08.1 xref: MESH:D004894 is_a: DOID:4223 ! pyoderma is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9003413 ! Corynebacterium Infections [Term] id: DOID:4136 name: myxosarcoma def: "A sarcoma, usually a liposarcoma or malignant fibrous histiocytoma, with an abundant component of myxoid tissue resembling primitive mesenchyme containing connective tissue mucin. (Stedman, 25th ed)" [MESH:D009236] synonym: "EFO:1001056" EXACT [] synonym: "Myxosarcomas" EXACT [] xref: EFO:1001056 xref: ICDO:8840/3 xref: MESH:D009236 xref: NCI:C3255 is_a: DOID:1115 ! sarcoma is_a: DOID:201 ! connective tissue cancer [Term] id: DOID:4137 name: common bile duct disease def: "A bile duct disease that is located_in the common bile duct. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/common-bile-duct "DO", MESH:D003137] synonym: "common bile duct diseases" EXACT [] synonym: "common bile duct disorder" EXACT [] xref: MESH:D003137 xref: MONDO:0002886 is_a: DOID:4138 ! bile duct disease [Term] id: DOID:4138 name: bile duct disease def: "A biliary tract disease located_in one or more bile ducts. (DO)" [https://medlineplus.gov/bileductdiseases.html "DO", https://www.health.harvard.edu/a_to_z/bile-duct-diseases-a-to-z "DO", https://www.nyp.org/cadc/liver-diseases-and-transplantation/bile-duct-disorders "DO"] synonym: "bile duct diseases" EXACT [] synonym: "bile duct disorder" EXACT [] synonym: "disorder of bile duct" EXACT [] synonym: "Non-Neoplastic Bile Duct Disorder" NARROW [] xref: EFO:1000400 xref: MESH:D001649 xref: NCI:C96716 is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:4140 name: biliary dyskinesia def: "A gallbladder disease characterized by altered tonus of the sphincter of Oddi, disturbance in the coordination of contraction of the biliary ducts, and/or reduction in the speed of emptying of the biliary tree. (DO)" [http://en.wikipedia.org/wiki/Biliary_dyskinesia "DO"] synonym: "biliary dyskinesias" EXACT [] synonym: "gallbladder dyskinesia" EXACT [] synonym: "gallbladder dyskinesias" EXACT [] xref: EFO:0007169 xref: MESH:D001657 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:4137 ! common bile duct disease [Term] id: DOID:4141 name: intraorbital meningioma def: "A meningioma by site and orbital neoplasm that is located_in the area around the eye sockets of the skull and results_in pressure in the eyes, giving a bulging appearance. (DO)" [http://www.mayfieldclinic.com/pe-meni.htm "DO"] xref: NCI:C6778 is_a: DOID:3565 ! meningioma is_a: DOID:4143 ! orbital cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4143 name: orbital cancer def: "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK13668/ "DO"] synonym: "malignant neoplasm of orbit" EXACT [] synonym: "neoplasm of orbit proper" EXACT [] synonym: "orbital tumor" EXACT [] synonym: "orbit cancer" EXACT [] xref: EFO:0007408 xref: ICD10CM:C69.6 xref: ICD9CM:190.1 xref: NCI:C3290 xref: NCI:C3562 is_a: DOID:184 ! bone cancer is_a: DOID:9002262 ! Orbital Neoplasms created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4147 name: gastrointestinal adenoma synonym: "EFO:1000217" EXACT [] synonym: "GI adenoma" EXACT [] xref: EFO:1000217 xref: NCI:C36207 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:4148 name: gastrointestinal neuroendocrine benign tumor xref: NCI:C27721 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:4151 name: skull base chordoma def: "A chordoma that is located_in the skull base. (DO)" [https://www.urmc.rochester.edu/encyclopedia/content.aspx?ContentTypeID=134&ContentID=85 "DO"] synonym: "chordoma of the skull base" EXACT [] xref: NCI:C5453 is_a: DOID:3302 ! chordoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:4152 name: chondroid chordoma def: "A chordoma that histologically derives_from chordoma, derives_from chondroma, and derives_from chondrosarcoma. (DO)" [http://www.ajnr.org/ajnr-case-collections-diagnosis/chondroid-chordoma "DO", https://my.clevelandclinic.org/health/diseases/17916-chordoma "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/ "DO"] synonym: "EFO:1000174" EXACT [] xref: EFO:1000174 xref: ICDO:9371/3 xref: NCI:C6902 is_a: DOID:3302 ! chordoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:4153 name: spinal chordoma def: "A chordoma that derives_from the spine. (DO)" [http://www.hopkinsmedicine.org/neurology_neurosurgery/conditions_main/chordoma.html "DO"] synonym: "chordoma of spine" EXACT [] synonym: "EFO:1000543" EXACT [] xref: EFO:1000543 xref: NCI:C5156 is_a: DOID:0060564 ! spinal disease is_a: DOID:3302 ! chordoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:4154 name: dentinogenesis imperfecta alt_id: MIM:125490 def: "A tooth disease characterized by discolored, opalescent teeth that has_material_basis_in mutation in the DSPP gene on chromosome 4q22. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19021896/ "DO"] synonym: "capdepont teeth" EXACT [] synonym: "Dentinogenesis Imperfecta 1" EXACT [] synonym: "Dentinogenesis Imperfecta, Shields Type 2" EXACT [] synonym: "Dentinogenesis Imperfecta, Shields Type Ii" EXACT [] synonym: "Dentinogenesis Imperfecta without Osteogenesis Imperfecta" EXACT [] synonym: "DGI1" EXACT [] synonym: "DGI-II" EXACT [] synonym: "Hereditary Opalescent Dentin" EXACT [] synonym: "OPALESCENT DENTIN" EXACT [] synonym: "opalescent teeth without osteogenesis imperfecta" EXACT [] xref: GARD:6258 xref: MESH:D003811 xref: NCI:C84667 xref: ORDO:49042 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1091 ! tooth disease is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:4156 name: primary syphilis def: "A syphilis that is the first stage of syphilis, marked by the development of a chancre, which is characterized by mononuclear leukocytic infiltration, macrophages, and lymphocytes. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=primary+syphilis "DO"] synonym: "symptomatic early syphilis" EXACT [] xref: ICD9CM:091 xref: MESH:C536772 is_a: DOID:4166 ! syphilis [Term] id: DOID:4157 name: secondary syphilis def: "A syphilis that is characterized as the second stage of syphilis which appears from 2 to 6 months after primary infection, and is marked by lesions especially in the skin but also in organs and tissues, and that lasts from 3 to 12 weeks. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=secondary+syphilis "DO"] synonym: "secondary syphilis of viscera or bone" EXACT [] xref: ICD9CM:091.9 xref: MESH:C536773 xref: NCI:C128413 is_a: DOID:4166 ! syphilis [Term] id: DOID:4159 name: skin cancer def: "An integumentary system cancer located_in the skin that is the uncontrolled growth of abnormal skin cells. (DO)" [https://medlineplus.gov/skincancer.html "DO", https://www.genome.gov/Genetic-Disorders/Skin-Cancer "DO"] synonym: "cancer of skin" EXACT [] synonym: "cancer of the skin" EXACT [] synonym: "CA - skin cancer" EXACT [] synonym: "malignant neoplasm of skin" EXACT [] synonym: "melanoma and non-melanoma skin cancer" EXACT [] synonym: "skin cancers" EXACT [] xref: EFO:0004198 xref: GARD:10421 xref: NCI:C2920 is_a: DOID:0060122 ! integumentary system cancer is_a: DOID:9004464 ! Skin Neoplasms created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4160 name: differentiating neuroblastoma xref: NCI:C42048 is_a: DOID:769 ! neuroblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:4163 name: ganglioneuroblastoma def: "A moderately malignant neoplasm composed of primitive neuroectodermal cells dispersed in myxomatous or fibrous stroma intermixed with mature ganglion cells. It may undergo transformation into a neuroblastoma. It arises from the sympathetic trunk or less frequently from the adrenal medulla, cerebral cortex, and other locations. Cervical ganglioneuroblastomas may be associated with HORNER SYNDROME and the tumor may occasionally secrete vasoactive intestinal peptide, resulting in chronic diarrhea." [] synonym: "EFO:0000502" EXACT [] synonym: "ganglioneuroblastomas" EXACT [] xref: EFO:0000502 xref: ICDO:9490/3 xref: MESH:D018305 xref: NCI:C3790 xref: ORDO:251877 is_a: DOID:769 ! neuroblastoma [Term] id: DOID:4164 name: cerebral neuroblastoma def: "A brain cancer that is characterized by small, round and blue cells with rosette patterns on histology, that has_material_basis_in abnormally proliferating cells and derives_from precursor cells called blast cells. (DO)" [https://en.wikipedia.org/wiki/Neuroblastoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/6886755 "DO"] synonym: "neuroblastoma of brain" EXACT [] synonym: "neuroblastoma of cerebrum" EXACT [] synonym: "neuroblastoma of the cerebral hemisphere" EXACT [] xref: NCI:C4826 is_a: DOID:368 ! cerebrum cancer is_a: DOID:769 ! neuroblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:4166 name: syphilis alt_id: MESH:D002601 def: "A primary bacterial infectious disease that is a sexually transmitted systemic disease, has_material_basis_in Treponema pallidum subsp pallidum, which is transmitted_by sexual contact, transmitted_by blood product transfusion, transmitted_by congenital method from mother to fetus or transmitted_by contact with infectious lesions. If left untreated, produces chancres, rashes, and systemic lesions in a clinical course with three stages continued over many years. (DO)" [http://en.wikipedia.org/wiki/Syphilis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=syphilis "DO"] synonym: "chancre" EXACT [] synonym: "chancres" EXACT [] synonym: "great pox" EXACT [] synonym: "syphilitic chancre" EXACT [] xref: EFO:0007504 xref: EFO:1001247 xref: ICD10CM:A51.0 xref: MESH:D013587 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9000746 ! Treponemal Infections is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases [Term] id: DOID:417 name: autoimmune disease alt_id: MIM:109100 alt_id: MIM:613551 def: "An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues. (DO)" [http://en.wikipedia.org/wiki/Autoimmune_disease "DO"] synonym: "AIS6" RELATED [] synonym: "autoimmune disease 6" RELATED [] synonym: "autoimmune diseases" EXACT [] synonym: "Autoimmune Disease, Susceptibility To, 6" RELATED [] synonym: "autoimmune hypersensitivity disease" EXACT [] synonym: "hypersensitivity reaction type II disease" EXACT [] synonym: "SIAE-RELATED CONDITION" NARROW [] xref: EFO:0005140 xref: EFO:0005809 xref: ICD9CM:720 xref: MESH:D001327 is_a: DOID:2914 ! immune system disease is_a: DOID:612 ! primary immunodeficiency disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:4175 name: Rh isoimmunization alt_id: MIM:619462 synonym: "ANTI-D ISOIMMUNIZATION AFFECTING PREGNANCY" NARROW [] synonym: "HEMOLYTIC DISEASE OF FETUS OR NEWBORN DUE TO RHD ISOIMMUNIZATION" NARROW [] synonym: "maternal alloimmunization" EXACT [] synonym: "pregnancy induced alloimmunization" EXACT [] synonym: "Rh incompatibility affecting management of mother" EXACT [] xref: EFO:0008462 xref: EFO:1001159 xref: MESH:D012203 xref: NCI:C113150 is_a: DOID:4176 ! blood group incompatibility is_a: DOID:74 ! hematopoietic system disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:4176 name: blood group incompatibility xref: MESH:D001787 is_a: DOID:74 ! hematopoietic system disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:418 name: systemic scleroderma def: "A scleroderma that is characterized by fibrosis (or hardening) of the skin and major organs, as well as vascular alterations, and autoantibodies. (DO)" [https://ghr.nlm.nih.gov/condition/systemic-scleroderma "DO"] synonym: "anti-centromere-antibody-positive systemic scleroderma" NARROW [] synonym: "anti-topoisomerase-I-antibody-positive systemic scleroderma" NARROW [] synonym: "progressive scleroderma" EXACT [] synonym: "progressive systemic sclerosis" EXACT [] synonym: "scleroderma syndrome" EXACT [] synonym: "systemic sclerosis" EXACT [] xref: EFO:0000717 xref: EFO:0008536 xref: EFO:0008537 xref: GARD:9748 xref: ICD10CM:M34.0 xref: ICD9CM:710.1 xref: MESH:D012595 xref: NCI:C72070 is_a: DOID:419 ! scleroderma [Term] id: DOID:4183 name: pseudopseudohypoparathyroidism alt_id: MIM:612463 def: "A form of PSEUDOHYPOPARATHYROIDISM characterized by the same features except for the abnormal response to hormones such as PARATHYROID HORMONE. It is associated with paternally inherited mutant alleles of the ALPHA CHAIN OF STIMULATORY G PROTEIN." [MESH:D011556] synonym: "Albright Hereditary Osteodystrophy without Multiple Hormone Resistance" EXACT [] synonym: "normocalcemic pseudohypoparathyroidism" EXACT [] synonym: "PPHP" EXACT [] synonym: "Pseudopseudo Hypoparathyroidism" EXACT [] synonym: "pseudo pseudohypoparathyroidism" EXACT [] synonym: "Pseudo-Pseudohypoparathyroidisms" EXACT [] synonym: "Pseudopseudo-Hypoparathyroidisms" EXACT [] synonym: "pseudopseudohypoparathyroidisms" EXACT [] xref: GARD:7860 xref: MESH:D011556 xref: NCI:C129722 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:4184 name: pseudohypoparathyroidism alt_id: RDO:0004655 def: "A hereditary syndrome clinically similar to HYPOPARATHYROIDISM. It is characterized by HYPOCALCEMIA; HYPERPHOSPHATEMIA; and associated skeletal development impairment and caused by failure of response to PARATHYROID HORMONE rather than deficiencies. A severe form with resistance to multiple hormones is referred to as Type 1a and is associated with maternal mutant allele of the ALPHA CHAIN OF STIMULATORY G PROTEIN." [MESH:D011547] synonym: "PHD1b" EXACT [] synonym: "PHD Ib" EXACT [] synonym: "Pseudohypoparathyroidisms" EXACT [] xref: GARD:10758 xref: ICD10CM:E20.1 xref: MESH:D011547 xref: NCI:C99027 is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:896 ! metal metabolism disorder is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:4186 name: articulation disorder alt_id: MESH:C563928 alt_id: MESH:D066229 alt_id: MIM:608445 def: "A speech disorder that involves mispronouncing speech sounds by omitting, distorting, substituting, or adding sounds which can make speech difficult to understand. (DO)" [https://www.stanfordchildrens.org/en/topic/default?id=speech-sound-disorders-in-children-160-236 "DO"] synonym: "articulation disorders" EXACT [] synonym: "articulation impairment" EXACT [] synonym: "developmental articulation disorder" EXACT [] synonym: "developmental articulation disorders" EXACT [] synonym: "disarticulation disorder" EXACT [] synonym: "disarticulation disorders" EXACT [] synonym: "Misarticulation" EXACT [] synonym: "phonological disorder" EXACT [] synonym: "phonological disorders" EXACT [] synonym: "Phonological Impairment" EXACT [] synonym: "Phonological Impairments" EXACT [] synonym: "Phonology Impairment" EXACT [] synonym: "Phonology Impairments" EXACT [] synonym: "Speech Articulation Disorder" EXACT [] synonym: "Speech Articulation Disorders" EXACT [] synonym: "speech sound disorder" EXACT [] synonym: "speech-sound disorder, hereditary" EXACT [] synonym: "speech sound disorders" EXACT [] synonym: "SSD" EXACT [] synonym: "unintelligible articulation" EXACT [] synonym: "unintelligible articulations" EXACT [] xref: MESH:D001184 xref: MONDO:0002903 is_a: DOID:92 ! speech disorder [Term] id: DOID:4188 name: echolalia def: "A speech disorder that involves the automatic repetition of vocalizations made by another person. (DO)" [http://en.wikipedia.org/wiki/Echolalia "DO"] synonym: "echophrasia" EXACT [] synonym: "Echo Reaction" EXACT [] synonym: "echo reactions" EXACT [] synonym: "Echo Speech" EXACT [] xref: MESH:D004454 xref: NCI:C97166 is_a: DOID:92 ! speech disorder [Term] id: DOID:4189 name: mutism def: "A speech disorder that involves a complete inability to speak. (DO)" [http://en.wikipedia.org/wiki/Mutism "DO", http://en.wikipedia.org/wiki/Speech_disorder "DO"] synonym: "Conversion Mutism" EXACT [] synonym: "conversion mutisms" EXACT [] synonym: "Elective Mutism" EXACT [] synonym: "Elective Mutisms" EXACT [] synonym: "Kussmaul's Aphasia" EXACT [] synonym: "Kussmaul Aphasia" EXACT [] synonym: "Kussmauls Aphasia" EXACT [] synonym: "Mutisms" EXACT [] synonym: "Organic Mutism" EXACT [] synonym: "Organic Mutisms" EXACT [] synonym: "Selective Mutism" EXACT [] synonym: "Voluntary Mutism" EXACT [] synonym: "voluntary mutisms" EXACT [] xref: MESH:D009155 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:92 ! speech disorder [Term] id: DOID:419 name: scleroderma def: "A rheumatic disease that involves the abnormal growth of connective tissue, which supports the skin and internal organs. (DO)" [http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "DO", https://scleroderma.org/ "DO"] synonym: "dermatosclerosis" EXACT [] xref: EFO:1001361 xref: EFO:1001993 xref: NCI:C26746 is_a: DOID:1575 ! rheumatic disease is_a: DOID:854 ! collagen disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:4193 name: intracranial thrombosis def: "Formation or presence of a blood clot (THROMBUS) in a blood vessel within the SKULL. Intracranial thrombosis can lead to thrombotic occlusions and BRAIN INFARCTION. The majority of the thrombotic occlusions are associated with ATHEROSCLEROSIS." [MESH:D020767] synonym: "brain thromboses" EXACT [] synonym: "Brain Thrombosis" EXACT [] synonym: "Brain Thrombus" EXACT [] synonym: "Cerebral Thromboses" EXACT [] synonym: "Cerebral Thrombosis" EXACT [] synonym: "Cerebral Thrombus" EXACT [] synonym: "cerebral venous thrombosis" NARROW [] synonym: "CVT" NARROW [] synonym: "Intracranial Thromboses" EXACT [] synonym: "intracranial thrombus" EXACT [] xref: ICD9CM:434.0 xref: MESH:D020767 xref: MONDO:0002907 is_a: DOID:0060903 ! thrombosis is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9005741 ! Intracranial Embolism and Thrombosis [Term] id: DOID:4194 name: glucose metabolism disease def: "A carbohydrate metabolic disorder that is characterized by blood glucose levels which cannot be maintained within the normal range. (DO)" [https://empendium.com/mcmtextbook/chapter/B31.II.24.11. "DO", https://pubmed.ncbi.nlm.nih.gov/39067965/ "DO", MESH:D044882] synonym: "disorder of glucose metabolism" EXACT [] synonym: "glucose metabolic disorder" EXACT [] synonym: "glucose metabolic disorders" EXACT [] synonym: "glucose metabolism disorder" EXACT [] synonym: "glucose metabolism disorders" EXACT [] xref: EFO:0009406 xref: MESH:D044882 xref: MONDO:0002908 xref: NCI:C53655 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:4195 name: hyperglycemia def: "Abnormally high BLOOD GLUCOSE level." [MESH:D006943] synonym: "Hyperglycemias" EXACT [] synonym: "Postprandial Hyperglycemia" EXACT [] synonym: "Postprandial Hyperglycemias" EXACT [] xref: ICD10CM:R73.9 xref: MESH:D006943 xref: MONDO:0002909 xref: NCI:C26797 is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:4196 name: femoral neuropathy def: "A mononeuropathy that is characterized by a loss of movement or sensation in parts of the legs due to damage to the femoral nerve. (DO)" [https://medlineplus.gov/ency/article/000687.htm "DO"] synonym: "Femoral Mononeuropathies" EXACT [] synonym: "Femoral Mononeuropathy" EXACT [] synonym: "Femoral Nerve Disease" EXACT [] synonym: "Femoral Nerve Diseases" EXACT [] synonym: "femoral nerve dysfunction" EXACT [] synonym: "femoral nerve lesions" EXACT [] synonym: "Femoral Neuritis" EXACT [] synonym: "Femoral Neuropathies" EXACT [] xref: EFO:1000936 xref: ICD10CM:G57.2 xref: MESH:D020428 xref: NCI:C27595 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:420 name: hypertrichosis def: "A hair disease characterized by hair growth that is abnormal in quantity or location. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18328202 "DO"] synonym: "hypertrichoses" EXACT [] xref: ICD10CM:L68 xref: MESH:D006983 xref: NCI:C79597 xref: ORDO:79365 is_a: DOID:421 ! hair disease [Term] id: DOID:4201 name: peroneal neuropathy xref: NCI:C27596 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:4202 name: brain stem glioma def: "A brain stem cancer that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells, derives_from glial cells. (DO)" [https://en.wikipedia.org/wiki/Brainstem_glioma "DO"] synonym: "Brain Stem Glioblastoma" NARROW [] synonym: "brainstem neuroglial tumor" EXACT [] xref: EFO:1000141 xref: EFO:1000142 xref: NCI:C8501 is_a: DOID:0060108 ! brain glioma is_a: DOID:3070 ! high grade glioma is_a: DOID:4203 ! brain stem cancer [Term] id: DOID:4203 name: brain stem cancer synonym: "malignant neoplasm of brain stem" EXACT [] synonym: "malignant neoplasm of brainstem" EXACT [] synonym: "malignant tumor of brainstem" EXACT [] synonym: "neoplasm of adult brain stem" EXACT [] synonym: "neoplasm of brain stem" EXACT [] synonym: "primary brain stem neoplasm" EXACT [] synonym: "primary brain stem tumor" EXACT [] synonym: "tumor of adult brainstem" EXACT [] synonym: "tumor of the brainstem" EXACT [] xref: GARD:8244 xref: ICD9CM:191.7 xref: NCI:C3570 xref: NCI:C4869 xref: NCI:C4975 xref: NCI:C5967 is_a: DOID:4706 ! infratentorial cancer [Term] id: DOID:4205 name: cerebellum cancer synonym: "cerebellar cancer" EXACT [] synonym: "cerebellar cancers" EXACT [] synonym: "malignant cerebellar neoplasm" EXACT [] synonym: "malignant cerebellar neoplasms" EXACT [] synonym: "malignant tumor of cerebellum" EXACT [] xref: EFO:1000858 xref: ICD10CM:C71.6 xref: ICD9CM:191.6 xref: NCI:C2935 xref: NCI:C3569 is_a: DOID:4706 ! infratentorial cancer is_a: DOID:9001689 ! Cerebellar Neoplasms [Term] id: DOID:4206 name: childhood brain stem neoplasm def: "A brain stem cancer characterized by mass lesion of the brainstem in childhood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5969 "DO"] synonym: "pediatric tumor of brainstem" EXACT [] xref: NCI:C5969 is_a: DOID:4203 ! brain stem cancer [Term] id: DOID:4207 name: childhood infratentorial neoplasm def: "A brain stem cancer in the infratentorial region of the brain in childhood, characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5802 "DO"] synonym: "pediatric infratentorial tumor" EXACT [] xref: NCI:C5802 xref: RDO:9004166 is_a: DOID:4203 ! brain stem cancer created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4209 name: brainstem intraparenchymal clear cell meningioma synonym: "intraparenchymal clear cell meningioma of the brainstem" EXACT [] xref: NCI:C5295 is_a: DOID:4210 ! clear cell meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:421 name: hair disease def: "An integumentary system disease that is located_in hair. (DO)" [http://en.wikipedia.org/wiki/Hair_disease "DO"] synonym: "hair diseases" EXACT [] xref: MESH:D006201 xref: NCI:C34656 is_a: DOID:16 ! integumentary system disease is_a: DOID:37 ! skin disease [Term] id: DOID:4210 name: clear cell meningioma xref: EFO:1000180 xref: ICDO:9538/1 xref: NCI:C4722 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4211 name: posterior fossa meningioma def: "A meningioma that affects the posterior cranial fossa. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33814376/ "DO"] synonym: "meningioma of the posterior cranial fossa" EXACT [] synonym: "posterior cranial fossa meningioma" EXACT [] xref: NCI:C6775 is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4217 name: malignant ovarian Brenner tumor def: "A malignant ovarian surface epithelial-stromal neoplasm that has_material_basis_in the surface epithelium of the ovary. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40026 "DO"] synonym: "Malignant Brenner Tumor" EXACT [] xref: EFO:1000357 xref: NCI:C4270 is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm is_a: DOID:9003150 ! Brenner Tumor [Term] id: DOID:422 name: congenital structural myopathy alt_id: OMIA:001374 def: "A myopathy that is characterized by hypotonia, muscle weakness, and delayed development of motor skills. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23897157/ "DO", MESH:D020914] synonym: "centronuclear myopathy, autosomal dominant" EXACT [] synonym: "congenital fiber type disproportion myopathy" EXACT [] synonym: "congenital non progressive myopathies" EXACT [] synonym: "congenital non-progressive myopathy" EXACT [] synonym: "congenital structural myopathies" EXACT [] synonym: "MTM1" EXACT [] synonym: "Myotubular Myopathies" EXACT [] synonym: "myotubular myopathy" EXACT [] synonym: "myotubular myopathy 1" EXACT [] xref: MESH:D020914 xref: NCI:C84648 is_a: DOID:0080015 ! physical disorder is_a: DOID:0081337 ! congenital myopathy is_a: DOID:9008582 ! Developmental Disease [Term] id: DOID:4223 name: pyoderma def: "A dermatitis that is characterized by a pyogenic infection causing the formation of pus. (DO)" [http://en.wikipedia.org/wiki/Pyoderma "DO", http://en.wikipedia.org/wiki/Pyogenic "DO"] synonym: "Pyodermas" EXACT [] xref: ICD10CM:L08.0 xref: ICD9CM:686.0 xref: MESH:D011711 is_a: DOID:2723 ! dermatitis [Term] id: DOID:4226 name: endometrial stromal sarcoma def: "An endometrial stromal tumor that has_material_basis_in connective tissue. (DO)" [https://en.wikipedia.org/wiki/Endometrial_stromal_sarcoma "DO"] synonym: "EFO:1000919" EXACT [] synonym: "endometrial stromal sarcoma, high grade" EXACT [] synonym: "endometrial stromal sarcomas" EXACT [] synonym: "ESS" EXACT [] synonym: "undifferentiated endometrial sarcoma" EXACT [] xref: EFO:1000919 xref: GARD:6339 xref: ICDO:8930/3 xref: MESH:D018203 xref: NCI:C60395 xref: NCI:C8973 is_a: DOID:5166 ! endometrial stromal tumor is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:4227 name: uterine corpus endometrial stromal sarcoma def: "A uterine corpus sarcoma that has_material_basis_in the connective tissue of the uterine lining. (DO)" [https://www.cancer.org/cancer/uterine-sarcoma/about/what-is-uterine-sarcoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/21652246 "DO"] synonym: "uterine corpus endometrial stromal tumor" EXACT [] xref: NCI:C40219 xref: RDO:9004551 is_a: DOID:4226 ! endometrial stromal sarcoma is_a: DOID:5165 ! uterine corpus sarcoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:423 name: myopathy def: "A muscular disease in which the muscle fibers do not function resulting in muscular weakness. (DO)" [http://en.wikipedia.org/wiki/Myopathy "DO"] synonym: "acute quadriplegic myopathy" NARROW [] synonym: "Myopathic Condition" EXACT [] synonym: "Myopathic Conditions" EXACT [] synonym: "Myopathies" EXACT [] synonym: "skeletal myopathy" NARROW [] synonym: "variable myopathy" NARROW [] xref: EFO:0000225 xref: EFO:0004145 xref: ICD10CM:G72.9 xref: ICD10CM:M60-M63 xref: ICD10CM:M62.9 xref: ICD9CM:359.9 xref: MIM:PS160565 xref: NCI:C101216 is_a: DOID:66 ! muscle tissue disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:4230 name: smooth muscle cancer synonym: "malignant tumor of smooth muscle" EXACT [] xref: NCI:C6511 is_a: DOID:4045 ! muscle cancer is_a: DOID:4310 ! smooth muscle tumor created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:4231 name: histiocytoma def: "A neoplasm containing HISTIOCYTES. Important forms include BENIGN FIBROUS HISTIOCYTOMA; and MALIGNANT FIBROUS HISTIOCYTOMA." [MESH:D051642] synonym: "EFO:0005561" EXACT [] synonym: "histiocytomas" EXACT [] xref: EFO:0005561 xref: ICDO:8831/0 xref: MESH:D051642 xref: NCI:C35765 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:9008446 ! Fibrous Tissue Neoplasms [Term] id: DOID:4232 name: extraosseous Ewing sarcoma def: "A Ewing sarcoma that is morphologically indistinguishable from skeletal Ewing sarcoma but is located in extraosseous locations. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27293 "DO"] synonym: "Ewing sarcoma of soft tissue" EXACT [] synonym: "extraosseous Ewing's sarcoma" EXACT [] synonym: "extraosseous Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] synonym: "extraskeletal Ewing sarcom" EXACT [] synonym: "extraskeletal Ewing sarcoma" EXACT [] xref: NCI:C27293 xref: ORDO:370334 is_a: DOID:3369 ! Ewing sarcoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4233 name: clear cell sarcoma def: "A sarcoma that is characterized by solid nests and fascicles of tumor cells with clear cytoplasm and prominent nucleoli. It presents as a slow growing mass that especially affects tendons and aponeuroses and it is deeply situated. (DO)" [http://en.wikipedia.org/wiki/Clear-cell_sarcoma "DO"] synonym: "adult soft part clear cell sarcoma" EXACT [] synonym: "clear cell sarcoma of soft parts" EXACT [] synonym: "clear cell sarcomas" EXACT [] synonym: "EFO:0008498" EXACT [] synonym: "malignant melanoma of soft parts" EXACT [] synonym: "malignant melanoma of soft tissues" EXACT [] xref: EFO:0008498 xref: ICDO:9044/3 xref: MESH:D018227 xref: NCI:C27370 xref: NCI:C3745 is_a: DOID:1115 ! sarcoma is_a: DOID:9003944 ! Connective Tissue Neoplasms [Term] id: DOID:4235 name: spindle cell sarcoma def: "A sarcoma that results_in cells that are spindle-shaped. They are usually resistant to radiation therapy. (DO)" [http://medical-dictionary.thefreedictionary.com/spindle+cell+sarcoma "DO"] synonym: "spindle cell sarcomas" EXACT [] xref: ICDO:8801/3 xref: NCI:C27005 xref: RDO:9003618 is_a: DOID:1115 ! sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4236 name: carcinosarcoma def: "A mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)" [http://en.wikipedia.org/wiki/Mixed_M%C3%BCllerian_tumor "DO", http://www.cancer.gov/Common/PopUps/popDefinition.aspx?id=44003&version=Patient&language=English "DO", http://www.cancer.gov/dictionary/?CdrID=44003 "DO"] synonym: "carcinosarcomas" EXACT [] xref: ICDO:8980/3 xref: MESH:D002296 xref: NCI:C34448 xref: NCI:C3730 xref: NCI:C8975 is_a: DOID:1115 ! sarcoma is_a: DOID:154 ! mixed cell type cancer [Term] id: DOID:4239 name: alveolar soft part sarcoma alt_id: MIM:606243 def: "A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults. (DO)" [http://en.wikipedia.org/wiki/Alveolar_soft_part_sarcoma "DO"] synonym: "adult alveolar soft part sarcoma" EXACT [] synonym: "ASPS" EXACT [] synonym: "childhood alveolar soft part sarcoma" EXACT [] synonym: "EFO:0007143" EXACT [] synonym: "pediatric alveolar soft part sarcoma" EXACT [] xref: EFO:0007143 xref: GARD:5654 xref: ICDO:9581/3 xref: MESH:D018234 xref: NCI:C3750 xref: NCI:C7943 xref: NCI:C8092 xref: ORDO:163699 is_a: DOID:1115 ! sarcoma is_a: DOID:4043 ! skeletal muscle cancer is_a: DOID:9003582 ! Muscle Tissue Neoplasms [Term] id: DOID:424 name: pulmonary immaturity def: "A lung disease that is characterized by pulmonary collapse, accompanied by hypoventilation which can affect a lobe, segment, or all of the lung, resulting in a decrease in the ventilation/perfusion ratio. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846321/ "DO"] synonym: "primary atelectasis, in perinatal period" EXACT [] synonym: "primary atelectasis of newborn" EXACT [] xref: ICD10CM:P28.0 xref: ICD9CM:770.4 is_a: DOID:850 ! lung disease created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:4242 name: kidney sarcoma def: "A kidney cancer that is located in the kidney's connective tissue. (DO)" [http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_kidney_cancer_22.asp "DO"] synonym: "renal sarcoma" EXACT [] synonym: "sarcoma of kidney" EXACT [] xref: NCI:C4525 is_a: DOID:1115 ! sarcoma is_a: DOID:263 ! kidney cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4247 name: coronary restenosis def: "Recurrent narrowing or constriction of a coronary artery following surgical procedures performed to alleviate a prior obstruction." [MESH:D023903] synonym: "Coronary Restenoses" EXACT [] xref: EFO:0004224 xref: MESH:D023903 is_a: DOID:4248 ! coronary stenosis [Term] id: DOID:4248 name: coronary stenosis def: "Narrowing or constriction of a coronary artery." [MESH:D023921] synonym: "coronary artery stenoses" EXACT [] synonym: "coronary artery stenosis" EXACT [] synonym: "coronary stenoses" EXACT [] xref: EFO:1000882 xref: MESH:D023921 xref: MONDO:0006715 xref: NCI:C80427 is_a: DOID:3393 ! coronary artery disease is_a: DOID:9000528 ! Coronary Disease [Term] id: DOID:4249 name: Gerstmann-Straussler-Scheinker syndrome alt_id: MIM:137440 def: "A prion disease characterized by adult onset of memory loss, dementia, ataxia, and pathologic deposition of amyloid-like plaques in the brain. (DO)" [http://en.wikipedia.org/wiki/Gerstmann-Str%C3%A4ussler-Scheinker_syndrome "DO", http://en.wikipedia.org/wiki/Gerstmann-straussler-scheinker_disease "DO", http://www.cdc.gov/ncidod/dvrd/prions/ "DO"] synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" EXACT [] synonym: "cerebral amyloid angiopathy, PRNP-related" NARROW [] synonym: "Gerstmann Straussler Disease" EXACT [] synonym: "Gerstmann-Straussler diseases" EXACT [] synonym: "Gerstmann Straussler Inherited Spongiform Encephalopathy" EXACT [] synonym: "Gerstmann-Straussler-Scheinker disease" EXACT [] synonym: "Gerstmann Straussler syndrome" EXACT [] synonym: "GSD" EXACT [] synonym: "GSS" EXACT [] synonym: "subacute spongiform encephalopathy, Gerstmann-Straussler type" EXACT [] xref: GARD:7690 xref: ICD10CM:A81.82 xref: ICD9CM:046.71 xref: MESH:D016098 xref: NCI:C84727 is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9006061 ! Cerebral Amyloidosis with Spongiform Encephalopathy [Term] id: DOID:4250 name: conjunctivochalasis def: "A conjunctival disease characterized by the presence of excess folds of the conjunctiva located between the globe of the eye and the eye-lid margin." [] xref: ICD10CM:H11.82 xref: ICD9CM:372.81 is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:4251 name: conjunctival disease def: "An eye disease affecting the conjunctiva, which is the mucous membrane surrounding the eye and interior of the eyelids. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27605 "DO"] synonym: "conjunctival diseases" EXACT [] xref: EFO:1000203 xref: ICD10CM:H11.9 xref: ICD9CM:372.9 xref: MESH:D003229 xref: NCI:C27605 is_a: DOID:5614 ! eye disease [Term] id: DOID:4252 name: Alexander disease alt_id: DOID:9002692 alt_id: MESH:C531607 alt_id: MIM:203450 alt_id: OMIA:001208 def: "A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. (DO)" [http://en.wikipedia.org/wiki/Alexander_disease "DO", http://www.ninds.nih.gov/disorders/alexander_disease/alexander_disease.htm "DO", http://www.omim.org/entry/203450 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/56/viewAbstract "DO"] synonym: "Alexander's disease" EXACT [] synonym: "Alexanders disease" EXACT [] synonym: "Alexanders Leukodystrophy" EXACT [] synonym: "ALXDRD" EXACT [] synonym: "Demyelinogenic Leukodystrophy" EXACT [] synonym: "dysmyelinogenic leukodystrophy" EXACT [] synonym: "fibrinoid degeneration of astrocytes" EXACT [] synonym: "GFAP-RELATED CONDITION" EXACT [] synonym: "leukodystrophy with Rosenthal fibers" EXACT [] xref: GARD:5774 xref: MESH:D038261 xref: NCI:C84545 xref: ORDO:58 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:4253 name: melorheostosis alt_id: MIM:155950 def: "An osteosclerosis that has_material_basis_in a mutation of the LEMD3 gene which results_in a hyperdense bony cortex. (DO)" [http://en.wikipedia.org/wiki/Melorheostosis "DO", http://www.melorheostosis.com/ "DO"] synonym: "MAP2K1-RELATED DISORDER" BROAD [] synonym: "MEL" EXACT [] synonym: "Melorheostoses" EXACT [] synonym: "MELORHEOSTOSIS, ISOLATED" EXACT [] synonym: "MELORHEOSTOSIS, ISOLATED, SOMATIC MOSAIC" EXACT [] synonym: "Melorheostosis of Leri" EXACT [] xref: GARD:9474 xref: MESH:D008557 xref: NCI:C84887 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:4254 name: osteosclerosis def: "A bone remodeling disease that results_in abnormal elevated bone density or mass. (DO)" [http://en.wikipedia.org/wiki/Osteosclerosis "DO"] synonym: "osteoscleroses" EXACT [] xref: MESH:D010026 xref: NCI:C41236 is_a: DOID:0080005 ! bone remodeling disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:4257 name: Caffey disease alt_id: MIM:114000 def: "A bone inflammation disease that causes bone changes, soft tissue swelling and irritability in infants. The disease has been associated with COL1A1 gene. It has symptom soft-tissue swelling, has symptom bone lesions, and has symptom irritability. (DO)" [http://en.wikipedia.org/wiki/Infantile_cortical_hyperostosis "DO"] synonym: "Caffey De Toni Silvermann Syndrome" EXACT [] synonym: "congenital cortical hyperostoses" EXACT [] synonym: "cortical congenital hyperostosis" EXACT [] synonym: "Familial Caffey's Disease" EXACT [] synonym: "Familial Caffey Disease" EXACT [] synonym: "Familial Caffeys Disease" EXACT [] synonym: "Familial Infantile Cortical Hyperostosis" EXACT [] synonym: "Infantile Cortical Hyperostoses" EXACT [] synonym: "infantile cortical hyperostosis" EXACT [] xref: EFO:0004139 xref: GARD:1051 xref: ICD10CM:M89.8 xref: MESH:D006958 xref: MONDO:0007244 xref: NCI:C118423 xref: NCI:C84645 is_a: DOID:205 ! hyperostosis is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:3342 ! bone inflammation disease is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:4258 name: Weissenbacher-Zweymuller syndrome alt_id: MIM:261800 alt_id: OMIA:001919 def: "An osteochondrodysplasia that results_in shortened long bones and distinct facial abnormalities. (DO)" [http://en.wikipedia.org/wiki/Weissenbacher-Zweym%C3%BCller_syndrome "DO", http://ghr.nlm.nih.gov/condition/weissenbacher-zweymuller-syndrome "DO", http://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=4351 "DO", http://www.healthline.com/galecontent/weissenbacher-zweymuller-syndrome-1 "DO"] synonym: "cleft palate 1" EXACT [] synonym: "glossoptosis, micrognathia, and cleft palate" EXACT [] synonym: "Piere-Robin syndrome" EXACT [] synonym: "Pierre Robin's Sequence" EXACT [] synonym: "PIERRE ROBIN-LIKE SYNDROME" NARROW [] synonym: "Pierre Robin malformation" EXACT [] synonym: "Pierre Robin Sequence" EXACT [] synonym: "Pierre Robins sequence" EXACT [] synonym: "Pierre Robin syndrome" EXACT [] synonym: "PRBNS" EXACT [] synonym: "Robin sequence" EXACT [] synonym: "Weissenbacher-Zweymüller syndrome" EXACT [] synonym: "WZS" EXACT [] xref: MESH:D010855 xref: NCI:C85010 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9000066 ! Jaw Abnormalities [Term] id: DOID:4260 name: gait apraxia def: "Impaired ambulation not attributed to sensory impairment or motor weakness. FRONTAL LOBE disorders; BASAL GANGLIA DISEASES (e.g., PARKINSONIAN DISORDERS); DEMENTIA, MULTI-INFARCT; ALZHEIMER'S DISEASE; and other conditions may be associated with gait apraxia." [MESH:D020235] synonym: "Apraxia of Gait" EXACT [] synonym: "Bruns' Apraxia of Gait" EXACT [] synonym: "Bruns' gait apraxias" EXACT [] synonym: "Bruns Gait Apraxia" EXACT [] synonym: "Dyspraxia of Gait" EXACT [] synonym: "Frontal Gait Apraxia" EXACT [] synonym: "Frontal Gait Apraxias" EXACT [] synonym: "Gait Apraxias" EXACT [] synonym: "Gait Dyspraxia" EXACT [] synonym: "gait dyspraxias" EXACT [] xref: EFO:1000944 xref: MESH:D020235 is_a: DOID:0060135 ! apraxia is_a: DOID:9006230 ! Neurologic Gait Disorders [Term] id: DOID:4265 name: angiomyoma def: "A leiomyoma that is located_in the blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4202094/ "DO"] synonym: "angioleiomyoma" EXACT [] synonym: "angioleiomyomas" EXACT [] synonym: "angiomyomas" EXACT [] synonym: "EFO:1000084" EXACT [] synonym: "vascular leiomyoma" EXACT [] synonym: "vascular leiomyomas" EXACT [] xref: EFO:1000084 xref: EFO:1000806 xref: MESH:D018229 xref: NCI:C3747 is_a: DOID:127 ! leiomyoma is_a: DOID:178 ! vascular disease [Term] id: DOID:4266 name: intravascular angioleiomyoma xref: NCI:C5355 is_a: DOID:4265 ! angiomyoma [Term] id: DOID:4267 name: akinetic mutism def: "A brain disease characterized by marked reduction of nearly all motor functions including facial expressions, gestures and speech output, but with some degree of alertness. (DO)" [http://en.wikipedia.org/wiki/Akinetic_mutism "DO", https://www.ncbi.nlm.nih.gov/pubmed/14642361 "DO"] synonym: "Akinetic Autism" EXACT [] synonym: "Akinetic Mutisms" EXACT [] synonym: "Coma Vigil" EXACT [] synonym: "Coma Vigilans" EXACT [] xref: EFO:0007138 xref: MESH:D000405 xref: MONDO:0005640 is_a: DOID:225 ! syndrome is_a: DOID:936 ! brain disease [Term] id: DOID:4270 name: encephalitozoonosis def: "A microsporidiosis that is a zoonotic infectious disease results_in disseminated fungal infection in dogs, cats, hamsters, guinea pigs, rats, mice and humans, has_material_basis_in Encephalitozoon cuniculi, has_material_basis_in Encephalitozoon intestinalis or has_material_basis_in Encephalitozoon hellem. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35202528/ "DO"] synonym: "Encephalitozoonoses" EXACT [] synonym: "infection by Encephalitozoon" EXACT [] xref: EFO:0007250 xref: MESH:D016890 is_a: DOID:4271 ! microsporidiosis [Term] id: DOID:4271 name: microsporidiosis def: "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Microsporidiosis.htm "DO"] synonym: "infection by Microspora" EXACT [] synonym: "infection by Microsporea" EXACT [] synonym: "infection by Microsporida" EXACT [] synonym: "Microspora Infection" EXACT [] synonym: "Microspora Infections" EXACT [] synonym: "Microsporidioses" EXACT [] xref: EFO:0007366 xref: GARD:3655 xref: ICD10CM:B60.8 xref: MESH:D016881 xref: NCI:C84891 is_a: DOID:2473 ! opportunistic mycosis [Term] id: DOID:4277 name: penis basal cell carcinoma def: "A basal cell carcinoma that is located_in the penis. (DO)" [https://www.cancer.org/cancer/penile-cancer/about/what-is-penile-cancer.html "DO"] synonym: "basal cell carcinoma of the penis" EXACT [] xref: NCI:C39961 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:3449 ! penis carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4278 name: scrotum basal cell carcinoma def: "Basal cell carcinoma of scrotum." [] synonym: "Basal cell carcinoma of scrotum" EXACT [NCI2004_11_17:C6386] synonym: "basal cell carcinoma of the scrotum" EXACT [] xref: NCI:C6386 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:3445 ! scrotal carcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:4279 name: infundibulocystic basal cell carcinoma alt_id: MIM:604451 alt_id: RDO:0003532 def: "A variant of basal cell carcinoma characterized by follicular differentiation. (DO)" [https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/2235986 "DO"] synonym: "basal cell carcinoma with follicular differentiation" EXACT [] synonym: "skin infundibulocystic basal cell carcinoma" EXACT [] xref: MESH:C537655 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:4280 name: nodular basal cell carcinoma def: "A basal cell carcinoma characterized by elevated, pearl shaped nodules with telengactisae on the surface and periphery. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3573444/ "DO"] synonym: "circumscribed solid basal cell carcinoma" EXACT [] synonym: "skin nodulo-ulcerative basal cell carcinoma" EXACT [] synonym: "skin solid (nodular) basal cell carcinoma" EXACT [] xref: NCI:C62282 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4281 name: metatypical basal cell carcinoma def: "A basal cell carcinoma characterized by intermediate typology between basal cell carcinoma and squamous cell carcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2585560/ "DO"] synonym: "Basosquamous carcinoma of skin" EXACT [] synonym: "skin metatypical basal cell carcinoma" EXACT [] synonym: "skin Metatypical carcinoma" EXACT [NCI2004_11_17:C2922] xref: RDO:9003254 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4282 name: pigmented basal cell carcinoma def: "A basal cell carcinoma characterized by brown or black pigmentation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3919288/ "DO"] synonym: "skin pigmented basal cell carcinoma" EXACT [] xref: RDO:9003256 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4283 name: anal margin basal cell carcinoma def: "A basal cell carcinoma that is located_in the anal margin. (DO)" [https://www.cancer.org/cancer/anal-cancer/about/what-is-anal-cancer.html "DO"] synonym: "basal cell carcinoma of anal margin" EXACT [] synonym: "basal cell carcinoma of perianal skin" EXACT [] xref: ICD10CM:C44.510 xref: NCI:C7473 xref: RDO:9002344 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:4284 ! anal margin carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:4284 name: anal margin carcinoma def: "An anal carcinoma that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anal margin (where the canal meets the outside skin at the anus). (DO)" [http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp "DO"] synonym: "carcinoma of anal margin" RELATED [] synonym: "Perianal skin carcinoma" EXACT [NCI2004_11_17:C7472] xref: NCI:C7472 xref: RDO:9002343 is_a: DOID:3451 ! skin carcinoma is_a: DOID:4908 ! anal carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:4286 name: skin nasal cell carcinoma with sebaceous differentiation def: "A basal cell carcinoma that is characterized by sebaceous differentiation and located in the skin. (DO)" [https://journals.lww.com/prsgo/fulltext/2020/12000/basal_cell_carcinoma_with_sebaceous.50.aspx "DO"] synonym: "sebaceous basal cell carcinoma" EXACT [] synonym: "skin basosebaceous basal cell carcinoma" EXACT [] xref: NCI:C4346 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:4840 ! sebaceous carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4287 name: external ear basal cell carcinoma synonym: "basal cell carcinoma of external ear" EXACT [] synonym: "basal cell carcinoma of the external ear" EXACT [] xref: NCI:C6082 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:4288 ! external ear carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4288 name: external ear carcinoma def: "An external ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "carcinoma of external ear" EXACT [] synonym: "carcinoma of the external ear" EXACT [] xref: NCI:C6081 is_a: DOID:305 ! carcinoma is_a: DOID:5665 ! external ear cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4289 name: micronodular basal cell carcinoma def: "A basal cell carcinoma characterized by solid tumor nodules. (DO)" [https://www.dermnetnz.org/topics/basal-cell-carcinoma-pathology/ "DO"] synonym: "skin micronodular basal cell carcinoma" EXACT [] is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:4280 ! nodular basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:429 name: gynatresia def: "A female reproductive system disease that is characterized by the occlusion of some part of the female genital tract, especially occlusion of the vagina. (DO)" [https://fertilitypedia.org/edu/diagnoses/gynatresia "DO", https://www.ncbi.nlm.nih.gov/pubmed/22717415 "DO"] synonym: "Asherman's Syndrome" EXACT [] synonym: "Ashermans Syndrome" EXACT [] synonym: "Asherman Syndrome" EXACT [] synonym: "Gynatresias" EXACT [] synonym: "Intrauterine Synechiae" EXACT [] synonym: "Uterine Synechiae" EXACT [] xref: EFO:1001335 xref: MESH:D006175 xref: NCI:C84743 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:4290 name: adamantinoid basal cell epithelioma synonym: "Basal cell carcinoma - adamantinoid" EXACT [SNOMEDCT_2005_07_31:402524007] synonym: "Melanotic adamantinoma of skin" EXACT [SNOMEDCT_2005_07_31:254728002] synonym: "skin adamantinoid basal cell epithelioma" EXACT [] xref: NCI:C7585 xref: RDO:9003260 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4291 name: fibroepithelial basal cell carcinoma synonym: "Fibroepithelioma of Pinkus" EXACT [SNOMEDCT_2005_07_31:254703005] synonym: "Fibroepithelioma of Pinkus type" EXACT [SNOMEDCT_2005_07_31:43369006] synonym: "Pinkus tumor" EXACT [NCI2004_11_17:C4109] xref: NCI:C4109 xref: RDO:9003262 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4292 name: morpheaform basal cell carcinoma synonym: "Basal cell carcinoma, morphea" EXACT [SNOMEDCT_2005_07_31:56665009] synonym: "Cicatricial basal-cell carcinoma" EXACT [] synonym: "Morphea-type (Sclerosing) Basal cell carcinoma" EXACT [NCI2004_11_17:C27182] xref: NCI:C27182 xref: RDO:9003263 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4293 name: clear cell basal cell carcinoma synonym: "skin clear cell basal cell carcinoma" EXACT [] xref: NCI:C27536 xref: RDO:9003267 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4294 name: adenoid basal cell carcinoma def: "A basal cell carcinoma that is characterized by the presence of thin strands of basaloid cells forming a reticulate pattern. (DO)" [https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC4840735/ "DO"] synonym: "skin adenoid basal cell carcinoma" EXACT [] xref: NCI:C27535 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:8858 ! tonsil cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4295 name: follicular basal cell carcinoma def: "A basal cell carcinoma that is characterized by follicular differentiation. (DO)" [https://link.springer.com/chapter/10.1007/978-3-319-45704-8_57 "DO"] synonym: "follicular (pilar) basal cell carcinoma" EXACT [] synonym: "Skin Follicular Basal Cell Carcinoma" EXACT [] xref: NCI:C27538 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4297 name: scimitar syndrome alt_id: MIM:106700 def: "A congenital heart disease that is characterized by partial or entire anomalous curved venous drainage of the right lung to the inferior vena cava, association with variable right lung and pulmonary artery hypoplasia, dextraposition of the heart and an anomalous systemic blood supply to the ipsilateral lung. (DO)" [https://en.wikipedia.org/wiki/Scimitar_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/31536209 "DO"] synonym: "anomalous pulmonary venous return" EXACT [] synonym: "APVR" EXACT [] synonym: "congenital venolobar syndrome" EXACT [] synonym: "Halasz syndrome" EXACT [] synonym: "hypogenetic lung syndrome" EXACT [] synonym: "mirror-image lung syndrome" EXACT [] synonym: "pulmonary venolobar syndrome" EXACT [] synonym: "Pulmonary Venous Return Anomaly" EXACT [] synonym: "Scimitar Anomaly" EXACT [] synonym: "TAPVR" EXACT [] synonym: "TAPVR1" EXACT [] synonym: "Total Anomalous Pulmonary Venous Return" EXACT [] synonym: "total anomalous pulmonary venous return 1" EXACT [] synonym: "vena cava bronchovascular syndrome" EXACT [] xref: EFO:1001167 xref: ICD10CM:Q26.2 xref: ICD10CM:Q26.8 xref: MESH:D012587 xref: NCI:C85056 xref: NCI:C98585 xref: ORDO:185 xref: ORDO:99125 is_a: DOID:1682 ! congenital heart disease is_a: DOID:178 ! vascular disease is_a: DOID:225 ! syndrome is_a: DOID:850 ! lung disease is_a: DOID:9003191 ! Vascular Malformations is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:4299 name: infiltrative basal cell carcinoma def: "A basal cell carcinoma that is characterized by the formation of thin, small clusters in an infiltrative growth pattern. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30710602/ "DO"] synonym: "skin infiltrating basal cell carcinoma" EXACT [] is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4300 name: superficial basal cell carcinoma synonym: "multicentric basal cell carcinoma" EXACT [] synonym: "Multifocal superficial basal cell carcinoma" EXACT [SNOMEDCT_2005_07_31:61098004] synonym: "Multifocal superficial basal cell carcinoma (morphologic abnormality)" EXACT [] synonym: "Superficial multicentric basal-cell carcinoma" EXACT [] xref: ICDO:8091/3 xref: NCI:C4108 xref: RDO:9003275 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4301 name: vulva basal cell carcinoma def: "A vulva carcinoma that has_material_basis_in basal cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22935972 "DO"] synonym: "basal cell carcinoma of the vulva" RELATED [] synonym: "basal cell carcinoma of vulva" EXACT [] xref: NCI:C6381 is_a: DOID:1294 ! vulva carcinoma is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4302 name: cystic basal cell carcinoma def: "A nodular basal cell carcinoma that is characterized by a homogenous blue/black area. (DO)" [https://www.hindawi.com/journals/jsc/2011/450472/ "DO"] synonym: "skin cystic basal cell carcinoma" EXACT [] is_a: DOID:4280 ! nodular basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4303 name: sarcomatoid basal cell carcinoma synonym: "skin sarcomatoid basal cell carcinoma" EXACT [] xref: NCI:C38111 xref: RDO:9003278 is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4304 name: signet ring basal cell carcinoma synonym: "skin signet ring cell basal cell carcinoma" EXACT [] xref: NCI:C38110 xref: RDO:9003279 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:3493 ! signet ring cell adenocarcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4305 name: bone giant cell tumor def: "A benign giant cell tumor that results_in the presence of multinucleated giant cells. (DO)" [http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone "DO"] synonym: "bone giant cell tumour" EXACT [] synonym: "EFO:0007176" EXACT [] synonym: "giant cell myeloma" RELATED [] synonym: "giant cell neoplasm of bone" EXACT [] synonym: "giant cell tumor of bone" EXACT [] synonym: "giant cell tumour of bone" EXACT [] synonym: "osteoclastoma" RELATED [] xref: EFO:0007176 xref: MESH:D018212 xref: NCI:C121932 is_a: DOID:200 ! benign giant cell tumor is_a: DOID:9007603 ! Bone Tissue Neoplasms [Term] id: DOID:4306 name: radiculopathy def: "A peripheral nervous system disease that is characterized by the pinching of a nerve root in the spine and has symptoms of pain, weakness, numbness and tingling. (DO)" [https://en.wikipedia.org/wiki/Radiculopathy "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/radiculopathy "DO"] synonym: "cervical radiculopathies" EXACT [] synonym: "Cervical Radiculopathy" EXACT [] synonym: "Nerve Root Avulsion" EXACT [] synonym: "nerve root avulsions" EXACT [] synonym: "Nerve Root Compression" EXACT [] synonym: "Nerve Root Compressions" EXACT [] synonym: "Nerve Root Disorder" EXACT [] synonym: "Nerve Root Disorders" EXACT [] synonym: "Nerve Root Inflammation" EXACT [] synonym: "Nerve Root Inflammations" EXACT [] synonym: "pinched nerve" EXACT [] synonym: "Radiculitides" EXACT [] synonym: "radiculitis" EXACT [] synonym: "radiculopathies" EXACT [] xref: ICD10CM:M54.1 xref: MESH:D011843 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:4307 name: polyradiculopathy def: "A radiculopathy that is present in more than one nerve. (DO)" [https://en.wikipedia.org/wiki/Radiculopathy "DO"] synonym: "abdominal polyradiculopathies" EXACT [] synonym: "abdominal polyradiculopathy" EXACT [] synonym: "polyradiculitides" EXACT [] synonym: "polyradiculitis" EXACT [] synonym: "polyradiculopathies" EXACT [] xref: MESH:D011128 xref: MONDO:0002960 xref: NCI:C34934 is_a: DOID:4306 ! radiculopathy [Term] id: DOID:4308 name: polyradiculoneuropathy def: "A peripheral nervous system disease that is characterized by the co-occurance of polyneuropahty and polyradicuopathy and is located in both the spinal nerve roots and the peripheral nerves. (DO)" [https://en.wikipedia.org/wiki/Polyradiculoneuropathy "DO"] synonym: "peripheral autoimmune demyelinating disease" EXACT [] synonym: "polyradiculoneuritides" EXACT [] synonym: "polyradiculoneuritis" EXACT [] synonym: "polyradiculoneuropathies" EXACT [] xref: EFO:1001116 xref: MESH:D011129 is_a: DOID:1389 ! polyneuropathy is_a: DOID:3213 ! demyelinating disease is_a: DOID:438 ! autoimmune disease of the nervous system [Term] id: DOID:431 name: myofascial pain syndrome def: "Muscular pain in numerous body regions that can be reproduced by pressure on TRIGGER POINTS, localized hardenings in skeletal muscle tissue. Pain is referred to a location distant from the trigger points. A prime example is the TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." [MESH:D009209] synonym: "myofascial pain syndromes" EXACT [] synonym: "Myofascial Trigger Point Pain" EXACT [] xref: EFO:1001054 xref: MESH:D009209 is_a: DOID:0080000 ! muscular disease is_a: DOID:225 ! syndrome is_a: DOID:423 ! myopathy [Term] id: DOID:4310 name: smooth muscle tumor def: "A tumor composed of smooth muscle tissue, as opposed to leiomyoma, a tumor derived from smooth muscle." [MESH:D018235] synonym: "EFO:1001185" EXACT [] synonym: "Smooth Muscle Tumors" EXACT [] xref: EFO:1001185 xref: MESH:D018235 xref: NCI:C3751 is_a: DOID:461 ! muscle benign neoplasm [Term] id: DOID:4313 name: epidermolysis bullosa acquisita def: "An acquired epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, and has_material_basis_in the development of autoantibodies to type VII collagen. (DO)" [https://www.nejm.org/doi/full/10.1056/NEJMicm1204895 "DO"] synonym: "acquired epidermolysis bullosa" EXACT [] synonym: "acquired form of epidermolysis bullosa" EXACT [] xref: EFO:1000691 xref: ICD10CM:L12.3 xref: MESH:D016107 xref: NCI:C84690 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:2730 ! epidermolysis bullosa [Term] id: DOID:4320 name: non-gestational choriocarcinoma def: "A choriocarcicoma that develops in the absence of a preceding gestational event. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4467297/ "DO"] synonym: "EFO:1001064" EXACT [] synonym: "non-gestational choriocarcinomas" EXACT [] xref: EFO:1001064 xref: MESH:D031954 xref: MONDO:0006871 is_a: DOID:3594 ! choriocarcinoma [Term] id: DOID:4321 name: large cell acanthoma xref: ICDO:8072/0 xref: NCI:C27518 is_a: DOID:174 ! acanthoma [Term] id: DOID:4322 name: pilar sheath acanthoma synonym: "EFO:1001107" EXACT [] synonym: "pilar sheath acanthomas" EXACT [] xref: EFO:1001107 xref: ICDO:8104/0 xref: NCI:C4468 is_a: DOID:174 ! acanthoma [Term] id: DOID:4323 name: epidermolytic acanthoma xref: NCI:C27516 is_a: DOID:174 ! acanthoma [Term] id: DOID:4324 name: acantholytic acanthoma xref: NCI:C27517 is_a: DOID:174 ! acanthoma [Term] id: DOID:4325 name: Ebola hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted by contaminated fomites, or transmitted by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/ebola/qa.htm "DO"] synonym: "Ebola Infection" EXACT [] synonym: "Ebola Virus Disease" EXACT [] synonym: "Ebola Virus Infection" EXACT [] xref: EFO:0007243 xref: GARD:2035 xref: ICD10CM:A98.4 xref: MESH:D019142 xref: NCI:C36171 is_a: DOID:9006715 ! Filoviridae Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers [Term] id: DOID:4327 name: Marburg hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Orthomarburgvirus marburgense, which is transmitted_by contact with the body fluids of an infected person. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom myalgia, has_symptom maculopapular rash on the trunk, has_symptom nausea, has_symptom vomiting, has_symptom chest pain, has_symptom sore throat, has_symptom abdominal pain, has_symptom diarrhea, and has_symptom bleeding. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/marburg/qa.htm "DO"] synonym: "Marburg disease" EXACT [] synonym: "Marburg virus disease" EXACT [] xref: EFO:0007358 xref: GARD:9444 xref: ICD10CM:A98.3 xref: MESH:D008379 xref: NCI:C84883 is_a: DOID:9001284 ! Monkey Diseases is_a: DOID:9006715 ! Filoviridae Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers [Term] id: DOID:4329 name: Erdheim-Chester disease def: "A non-Langerhans-cell histiocytosis that is characterized by the proliferation in the tissues of lipid-laden macrophages and the presence of multinucleated giant cells. It results in sclerosis of the long bones and failure of the affected organs. (DO)" [https://medlineplus.gov/genetics/condition/erdheim-chester-disease/ "DO", https://rarediseases.org/rare-diseases/erdheim-chester-disease/ "DO", MESH:D031249] synonym: "EFO:1000926" EXACT [] synonym: "Lipid Granulomatosis" EXACT [] xref: EFO:1000926 xref: GARD:6369 xref: MESH:D031249 xref: NCI:C53972 is_a: DOID:4330 ! non-Langerhans-cell histiocytosis [Term] id: DOID:4330 name: non-Langerhans-cell histiocytosis def: "A histiocytosis that is characterized by the accumulation of histiocytes that do not meet the phenotypic criteria for the diagnosis of Langerhans cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/15547923/ "DO", MESH:D015616] synonym: "Xanthoma Disseminatum" EXACT [] xref: GARD:8231 xref: MESH:D015616 is_a: DOID:3405 ! histiocytosis [Term] id: DOID:4331 name: burning mouth syndrome def: "A mouth disease that is characterized by long-lasting burning sensations of the mouth. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30189984/ "DO"] synonym: "Burning Mouth Syndromes" EXACT [] synonym: "Orodynia" EXACT [] synonym: "Stomatopyrosis" EXACT [] xref: EFO:1000850 xref: GARD:5974 xref: MESH:D002054 xref: NCI:C62545 is_a: DOID:225 ! syndrome is_a: DOID:403 ! mouth disease [Term] id: DOID:4333 name: parovarian cyst def: "A female reproductive system disease that is characterized by epithelium-lined fluid-filled cysts in the adnexa adjacent to the fallopian tube and ovary. (DO)" [https://en.wikipedia.org/wiki/Paraovarian_cyst "DO"] synonym: "embryonic fimbrial cyst" EXACT [] synonym: "fimbrial cyst" EXACT [] synonym: "Hydatid Cyst of Morgagni" EXACT [] synonym: "Hydatid of Morgagni" EXACT [] synonym: "Morgagni Hydatid" EXACT [] synonym: "Morgagni Hydatid Cyst" EXACT [] synonym: "Morgagni Hydatid Cysts" EXACT [] synonym: "Morgagni Hydatids" EXACT [] synonym: "Paratubal Cyst" EXACT [] synonym: "Paratubal Cysts" EXACT [] synonym: "Parovarian Cysts" EXACT [] xref: ICD10CM:Q50.4 xref: ICD10CM:Q50.5 xref: MESH:D010310 is_a: DOID:229 ! female reproductive system disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:4334 name: splenic manifestation of prolymphocytic leukemia xref: NCI:C7297 is_a: DOID:1039 ! prolymphocytic leukemia is_a: DOID:710 ! splenic manifestation of leukemia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:4336 name: tinea favosa def: "A tinea capitis that results_in fungal infection located_in scalp, located_in glabrous skin or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and results_in_formation_of scutula, yellowish cup-shaped crusts of dense masses of mycelium and epithelial debris, which develop at the surface of a hair follicle with the shaft in the center of the raised lesion. Removal of these crusts reveals an oozing, moist, red base. Later, atrophy of the skin occurs leaving a cicatricial alopecia and scarring. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3885931/ "DO"] synonym: "favus" EXACT [] xref: EFO:0007511 xref: MESH:D014007 xref: NCI:C35072 is_a: DOID:4123 ! nail disease is_a: DOID:4337 ! tinea capitis [Term] id: DOID:4337 name: tinea capitis def: "A dermatophytosis that results_in contagious fungal infection located_in scalp, located_in hair of head, located_in eyebrow or located_in eyelash, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes and has_symptom itching of the scalp, has_symptom pus filled lesions on the scalp, and has_symptom patches of hair loss, sometimes with a 'black dot' pattern. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000878.htm "DO", https://drfungus.org/knowledge-base/tinea-capitis/ "DO"] synonym: "dermatophytosis of scalp" RELATED [] synonym: "dermatophytosis of scalp or beard" EXACT [] synonym: "Kerion Celsi" EXACT [] synonym: "scalp ringworm" EXACT [] synonym: "tinea capitis due to Trichophyton rubrum" EXACT [] synonym: "tinea capitis profunda" EXACT [] synonym: "Trichophytia Profunda Barbae" EXACT [] synonym: "Trichophytia Profunda Capitides" EXACT [] synonym: "trichophytia profunda capitis" EXACT [] synonym: "trichophyton rubrum tinea capitis" EXACT [] xref: ICD9CM:110.0 xref: MESH:D014006 xref: NCI:C34536 is_a: DOID:3136 ! scalp dermatosis is_a: DOID:421 ! hair disease is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:4346 name: variegate porphyria alt_id: MIM:176200 def: "An autosomal dominant porphyria that is due to a deficiency of protoporphyrinogen oxidase (EC 1.3.3.4) in the LIVER, the seventh enzyme in the 8-enzyme biosynthetic pathway of HEME. Clinical features include both neurological symptoms and cutaneous lesions. Patients excrete increased levels of porphyrin precursors, COPROPORPHYRINS and protoporphyrinogen." [MESH:D046350] synonym: "homozygous variegate porphyria" EXACT [] synonym: "porphyria, South African type" EXACT [] synonym: "porphyria variegata" EXACT [] synonym: "Ppox Deficiency" EXACT [] synonym: "protocoproporphyria" EXACT [] synonym: "protoporphyrinogen oxidase deficiencies" EXACT [] synonym: "protoporphyrinogen oxidase deficiency" EXACT [] synonym: "VARIEGATE PORPHYRIA, HOMOZYGOUS VARIANT" NARROW [] synonym: "VP" EXACT [] xref: GARD:7848 xref: MESH:D046350 xref: NCI:C85219 is_a: DOID:3133 ! acute porphyria is_a: DOID:9005584 ! Hepatic Porphyrias [Term] id: DOID:4347 name: lymphocele def: "Cystic mass containing lymph from diseased lymphatic channels or following surgical trauma or other injury." [MESH:D008210] synonym: "Lymphatic Cyst" EXACT [] synonym: "lymphatic cysts" EXACT [] synonym: "lymph cyst" EXACT [] synonym: "Lymphoceles" EXACT [] synonym: "Lymphocoele" EXACT [] synonym: "lymphocoeles" EXACT [] xref: MESH:D008210 xref: MONDO:0002968 xref: NCI:C78442 is_a: DOID:75 ! lymphatic system disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:4352 name: ciliary body cancer synonym: "malignant neoplasm of ciliary body" EXACT [] synonym: "malignant tumor of ciliary body" EXACT [] synonym: "malignant tumor of the Ciliary body" EXACT [NCI2004_11_17:C4766] synonym: "neoplasm of ciliary body" EXACT [SNOMEDCT_2005_07_31:126998003] synonym: "tumor of the Ciliary body" EXACT [NCI2004_11_17:C4364] xref: ICD10CM:C69.4 xref: NCI:C4364 xref: NCI:C4766 is_a: DOID:3478 ! iris cancer is_a: DOID:4353 ! ciliary body disease [Term] id: DOID:4353 name: ciliary body disease def: "An iris disease that is located_in the ciliary body. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35695216/ "DO"] xref: NCI:C35775 is_a: DOID:240 ! iris disease [Term] id: DOID:4359 name: amelanotic melanoma def: "An unpigmented malignant melanoma. It is an anaplastic melanoma consisting of cells derived from melanoblasts but not forming melanin. (Dorland, 27th ed; Stedman, 25th ed)" [MESH:D018328] synonym: "amelanotic melanomas" EXACT [] synonym: "EFO:1001937" EXACT [] xref: EFO:1001937 xref: ICDO:8730/3 xref: MESH:D018328 xref: NCI:C3802 is_a: DOID:1909 ! melanoma [Term] id: DOID:436 name: posterior mediastinum cancer xref: ICD10CM:C38.2 xref: ICD9CM:164.3 xref: RDO:9005080 is_a: DOID:5559 ! mediastinal cancer created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:4360 name: epithelioid cell melanoma synonym: "epithelioid cell melanoma (morphologic abnormality)" EXACT [] synonym: "epithelioid melanoma" EXACT [] xref: ICDO:8771/3 xref: NCI:C4236 xref: RDO:9001852 is_a: DOID:1909 ! melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:4362 name: cervical cancer def: "A female reproductive organ cancer that is located_in the cervix. (DO)" [http://cancergenome.nih.gov/cancersselected/cervicalcancer "DO", http://en.wikipedia.org/wiki/Cervical_cancer "DO", http://www.cancer.gov/dictionary?CdrID=444973 "DO"] synonym: "cancer of cervix" EXACT [] synonym: "cancer of the cervix" EXACT [] synonym: "cancer of the uterine cervix" EXACT [] synonym: "cervix cancer" EXACT [] synonym: "cervix cancers" EXACT [] synonym: "cervix uteri cancer" EXACT [] synonym: "uterine cervical cancer" EXACT [] synonym: "uterine cervical cancers" EXACT [] xref: ICD10CM:C53 xref: ICD9CM:180 xref: MONDO:0002974 xref: NCI:C2940 xref: NCI:C9311 is_a: DOID:363 ! uterine cancer is_a: DOID:9003373 ! Uterine Cervical Neoplasms created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:4364 name: malignant breast melanoma def: "A breast cancer that arises_from melanocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15845569 "DO"] synonym: "breast melanoma" EXACT [] synonym: "malignant melanoma of breast" EXACT [] xref: NCI:C8410 is_a: DOID:1612 ! breast cancer is_a: DOID:1909 ! melanoma created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:4367 name: apparent mineralocorticoid excess syndrome alt_id: DOID:0090121 alt_id: MIM:218030 def: "A steroid inherited metabolic disorder characterized by decreased conversion of biologically active cortisol to inactive cortisone resulting in low aldosterone levels, metabolic alkalosis, hypernatremia, hypokalemia and early-onset severe hypertension that has_material_basis_in homozygous or compound heterozygous mutation in the HSD11B2 gene on chromosome 16. (DO)" [https://www.omim.org/entry/218030 "DO"] synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 2" EXACT [] synonym: "AME" EXACT [] synonym: "AME1" EXACT [] synonym: "apparent mineralocorticoid excess" EXACT [] synonym: "apparent mineralocorticoid excess, mild" NARROW [] synonym: "cortisol 11-beta-ketoreductase deficiency" EXACT [] synonym: "syndrome of apparent mineralocorticoid excess" EXACT [] synonym: "Ulick syndrome" EXACT [] xref: EFO:1000817 xref: GARD:433 xref: MESH:D043204 xref: NCI:C123231 xref: ORDO:320 is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:225 ! syndrome is_a: DOID:3947 ! adrenal gland hyperfunction [Term] id: DOID:437 name: myasthenia gravis alt_id: MIM:254200 def: "An autoimmune disease of the nervous system that has_material_basis_in antibodies to acetylcholine receptors at the neuromuscular junction, has_symptom ptosis, has_symptom diplopia, has_symptom dysphagia, has_symptom dysarthria, has_symptom muscle weakness and has_symptom shortness of breath. (DO)" [https://www.ninds.nih.gov/health-information/disorders/myasthenia-gravis "DO"] synonym: "generalized myasthenia gravis" EXACT [] synonym: "late-onset myasthenia gravis" NARROW [] synonym: "ocular myasthenia gravis" NARROW [] synonym: "REFRACTORY MYASTHENIA GRAVIS" NARROW [] xref: EFO:0004991 xref: EFO:1001490 xref: GARD:7122 xref: ICD10CM:G70.0 xref: ICD10CM:G70.00 xref: ICD9CM:358.0 xref: ICD9CM:358.00 xref: MESH:D009157 xref: NCI:C60989 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:439 ! neuromuscular junction disease [Term] id: DOID:4370 name: stomach diverticulosis def: "A pathological condition characterized by the presence of a number of GASTRIC DIVERTICULA in the STOMACH." [MESH:D045724] synonym: "gastric diverticulosis" EXACT [] xref: MESH:D045724 is_a: DOID:76 ! stomach disease [Term] id: DOID:4371 name: Schnitzler syndrome def: "A hypersensitivity reaction type IV disease that is characterized by chronic urticarial rash and monoclonal IgM gammopathy, has_symptom rash, intermittent fever, arthralgia, and lymphadenopathy. (DO)" [https://rarediseases.org/rare-diseases/schnitzler-syndrome/ "DO", https://www.nomidalliance.org/schnitzler.php "DO"] xref: EFO:1001165 xref: GARD:12390 xref: MESH:D019873 is_a: DOID:2916 ! hypersensitivity reaction type IV disease is_a: DOID:7442 ! monoclonal gammopathy of uncertain significance [Term] id: DOID:4372 name: intracranial embolism def: "Blocking of a blood vessel in the SKULL by an EMBOLUS which can be a blood clot (THROMBUS) or other undissolved material in the blood stream. Most emboli are of cardiac origin and are associated with HEART DISEASES. Other non-cardiac sources of emboli are usually associated with VASCULAR DISEASES." [MESH:D020766] synonym: "Brain Emboli" EXACT [] synonym: "Brain Embolism" EXACT [] synonym: "Brain Embolus" EXACT [] synonym: "Cerebral Emboli" EXACT [] synonym: "Cerebral Embolism" EXACT [] synonym: "Cerebral embolism with cerebral infarction" EXACT [] synonym: "Cerebral Embolus" EXACT [] xref: EFO:1000991 xref: ICD10CM:I66 xref: ICD9CM:434.1 xref: MESH:D020766 is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9005741 ! Intracranial Embolism and Thrombosis [Term] id: DOID:4374 name: Silo filler's disease def: "A lung disease that is characterized by inhalation of nitrogen oxides from exposure to silage gas in recently filled silos resulting in sudden death, pulmonary edema, and/or bronchiolitis obliterans. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30879430/ "DO", https://wiki.idph.iowa.gov/epimanual/Home/CategoryID/149 "DO"] synonym: "silo filler disease" EXACT [] synonym: "silo fillers disease" EXACT [] xref: EFO:1001182 xref: MESH:D012832 xref: MONDO:0006972 is_a: DOID:841 ! extrinsic allergic alveolitis is_a: DOID:9006538 ! Agricultural Workers' Diseases [Term] id: DOID:4376 name: milk allergy def: "A food allergy that results in adverse immune reaction to one or more of the proteins in cow's milk and/or the milk of other animals, which are normally harmless to the non-allergic individual. (DO)" [http://en.wikipedia.org/wiki/Milk_hypersensitivity "DO"] synonym: "milk allergic reaction" EXACT [] synonym: "milk allergies" EXACT [] synonym: "Milk Hypersensitivities" EXACT [] synonym: "milk hypersensitivity" EXACT [] xref: EFO:0007369 xref: MESH:D016269 is_a: DOID:3044 ! food allergy [Term] id: DOID:4377 name: egg allergy def: "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. (DO)" [http://en.wikipedia.org/wiki/Allergy#Foods "DO"] synonym: "allergy to eggs" EXACT [] synonym: "egg allergies" EXACT [] synonym: "egg hypersensitivities" EXACT [] synonym: "egg hypersensitivity" EXACT [] xref: EFO:0007248 xref: MESH:D021181 xref: NCI:C172313 is_a: DOID:3044 ! food allergy [Term] id: DOID:4378 name: peanut allergy def: "A legume allergy that is an allergy or hypersensitivity to dietary substances from peanuts causing an overreaction of the immune system which in a small percentage of people may lead to severe physical symptoms. (DO)" [http://en.wikipedia.org/wiki/Allergy#Foods "DO"] synonym: "allergy to peanuts" EXACT [] synonym: "groundnut hypersensitivity" EXACT [] synonym: "peanut allergic reaction" EXACT [] synonym: "peanut allergies" EXACT [] synonym: "peanut hypersensitivity" EXACT [] xref: EFO:0007425 xref: MESH:D021183 is_a: DOID:0060904 ! legume allergy [Term] id: DOID:4379 name: nut allergy def: "A food allergy that develops_from exposure to and particularly consumption of nuts, and has_symptom asthma, skin rashes, throat and eye irritation, and anaphylaxis. (DO)" [https://en.wikipedia.org/wiki/Tree_nut_allergy "DO"] synonym: "allergy to nuts" EXACT [] synonym: "nut allergic reaction" EXACT [] synonym: "nut allergies" EXACT [] synonym: "Nut Hypersensitivities" EXACT [] synonym: "Nut Hypersensitivity" EXACT [] synonym: "Tree Nut Allergies" EXACT [] synonym: "tree nut allergy" EXACT [] synonym: "tree nut hypersensitivities" EXACT [] synonym: "tree nut hypersensitivity" EXACT [] xref: EFO:1001066 xref: MESH:D021184 xref: NCI:C175521 is_a: DOID:3044 ! food allergy [Term] id: DOID:438 name: autoimmune disease of the nervous system def: "An autoimmune disease affecting the nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1003353/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/21619947 "DO"] synonym: "autoimmune disorders of the nervous system" EXACT [] synonym: "autoimmune nervous system diseases" EXACT [] synonym: "autoimmune nervous system disorder" EXACT [] synonym: "nervous system autoimmune disorders" EXACT [] synonym: "Nervous System Immune Diseases" EXACT [] synonym: "nervous system immune disorders" EXACT [] synonym: "neurologic autoimmune disease" EXACT [] synonym: "neurologic autoimmune diseases" EXACT [] xref: MESH:D020274 xref: NCI:C99383 is_a: DOID:417 ! autoimmune disease is_a: DOID:863 ! nervous system disease [Term] id: DOID:4384 name: orbit alveolar rhabdomyosarcoma def: "An orbit rhabdomyosarcoma that is characterized by ill-defined aggregates of poorly differentiated malignant cells that are loosely arranged and separated into irregular ovoid spaces by thin fibrovascular septa in an alveolar pattern which is absent in the solid form. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31146616/ "DO"] synonym: "alveolar rhabdomyosarcoma of the orbit" EXACT [] xref: NCI:C6247 is_a: DOID:3259 ! orbit rhabdomyosarcoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4385 name: papillary squamous carcinoma def: "A squamous cell carcinoma that has papillae, which are characterized either by narrow fibrovascular cores that superficially resemble papillary carcinoma of the urinary tract or by broad cores that contain edematous fibrous stroma with prominent capillaries and stromal inflammation. (DO)" [http://www.sciencedirect.com/science/article/pii/S0090825803003299 "DO"] synonym: "papillary epidermoid carcinoma" EXACT [] xref: NCI:C4102 xref: RDO:9002371 is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:4386 name: myofibroma def: "A benign tumor that consists chiefly of fibrous CONNECTIVE TISSUE, with variable numbers of MUSCLE CELLS forming portions of the neoplasm (From Stedman's, 27th ed)." [MESH:D047708] synonym: "EFO:1000389" EXACT [] synonym: "lipoleiomyoma" EXACT [] synonym: "myofibromas" EXACT [] xref: EFO:1000389 xref: ICDO:8824/0 xref: MESH:D047708 xref: NCI:C7052 is_a: DOID:0060123 ! connective tissue benign neoplasm [Term] id: DOID:4388 name: bone peripheral neuroepithelioma synonym: "osseous peripheral neuroepithelioma" EXACT [] xref: NCI:C8776 xref: RDO:9003423 is_a: DOID:3368 ! Ewing sarcoma of bone created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4389 name: soft tissue peripheral neuroepithelioma synonym: "peripheral neuroectodermal tumor of soft tissues" EXACT [] xref: NCI:C27471 is_a: DOID:4232 ! extraosseous Ewing sarcoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:439 name: neuromuscular junction disease def: "A neuromuscular disease that is characterized by the disfunction of conduction through the neuromuscular junction. (DO)" [http://en.wikipedia.org/wiki/Neuromuscular_junction_disease "DO"] synonym: "neuromuscular junction diseases" EXACT [] synonym: "Neuromuscular Junction Disorder" EXACT [] synonym: "neuromuscular junction disorders" EXACT [] synonym: "Neuromuscular Junction Toxic Disorders" EXACT [] synonym: "Neuromuscular Transmission Disorder" EXACT [] synonym: "neuromuscular transmission disorders" EXACT [] xref: MESH:D020511 is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:4394 name: reticulohistiocytic granuloma synonym: "reticulohistiocytoma" EXACT [] synonym: "reticulohistiocytomas" EXACT [] synonym: "solitary reticulohistiocytoma" EXACT [] xref: GARD:12967 xref: NCI:C3356 is_a: DOID:4330 ! non-Langerhans-cell histiocytosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:4397 name: granulomatous dermatitis xref: EFO:1000705 xref: NCI:C3505 xref: RDO:9004258 is_a: DOID:2723 ! dermatitis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4398 name: pustulosis of palm and sole synonym: "acropustulosis" EXACT [] synonym: "palmoplantar pustulosis" EXACT [] synonym: "pustular psoriasis of the palms and/or soles" EXACT [] xref: ICD10CM:L40.3 xref: NCI:C34888 is_a: DOID:2723 ! dermatitis is_a: DOID:8893 ! psoriasis created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:4399 name: acneiform dermatitis xref: EFO:1000662 xref: NCI:C35277 is_a: DOID:2723 ! dermatitis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:440 name: neuromuscular disease def: "A neuropathy that affect the nerves that control the voluntary muscles. (DO)" [http://www.nlm.nih.gov/medlineplus/neuromusculardisorders.html "DO"] synonym: "Amyotonia Congenita" NARROW [] synonym: "Benign Fasciculation-Cramp Syndrome" NARROW [] synonym: "Benign Fasciculation-Cramp Syndromes" NARROW [] synonym: "Cramp Fasciculation Syndrome" NARROW [] synonym: "Cramp-Fasciculation Syndromes" NARROW [] synonym: "Foley Denny Brown Syndrome" NARROW [] synonym: "neuromuscular diseases" EXACT [] synonym: "NEUROMUSCULAR DISORDER" EXACT [] synonym: "Oppenheim's Disease" NARROW [] synonym: "Oppenheim Disease" NARROW [] synonym: "Oppenheims Disease" NARROW [] xref: EFO:1001902 xref: ICD10CM:G70.9 xref: ICD9CM:358 xref: MESH:D009468 xref: NCI:C189005 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:870 ! neuropathy [Term] id: DOID:4400 name: dermatosis papulosa nigra alt_id: MIM:125600 xref: EFO:1000686 xref: ICD10CM:L82 xref: MESH:C562379 xref: NCI:C2984 is_a: DOID:2723 ! dermatitis is_a: DOID:9008246 ! Papulosquamous Skin Diseases [Term] id: DOID:4404 name: occupational dermatitis def: "A recurrent contact dermatitis caused by substances found in the work place." [MESH:D009783] synonym: "industrial dermatoses" EXACT [] synonym: "industrial dermatosis" EXACT [] synonym: "occupational allergic contact dermatitis" EXACT [] synonym: "occupational dermatitides" EXACT [] synonym: "occupational eczema" EXACT [] xref: EFO:1000744 xref: MESH:D009783 xref: NCI:C34859 is_a: DOID:2773 ! contact dermatitis is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:4406 name: spongiotic dermatitis xref: EFO:1000768 xref: NCI:C27037 is_a: DOID:2723 ! dermatitis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4407 name: phototoxic dermatitis def: "An irritant dermatitis that is caused or precipitated by exposure to ultraviolet sunlight, or by mediating phototoxic or photoallergic material in response to ultraviolet sunlight. (DO)" [https://dermnetnz.org/cme/dermatitis/photosensitivity-dermatitis "DO"] synonym: "photosensitisation reaction" EXACT [] synonym: "photosensitive dermatitis" EXACT [] synonym: "photosensitiveness" EXACT [] synonym: "phototoxic contact dermatitides" EXACT [] synonym: "phototoxic contact dermatitis" EXACT [] synonym: "phototoxic dermatitides" EXACT [] synonym: "phototoxicity" EXACT [] xref: EFO:1000753 xref: MESH:D017484 xref: NCI:C4816 is_a: DOID:2772 ! irritant dermatitis is_a: DOID:3159 ! photosensitivity disease [Term] id: DOID:4409 name: folliculitis def: "Inflammation of follicles, primarily hair follicles." [MESH:D005499] synonym: "Folliculitides" EXACT [] synonym: "Sycoses" EXACT [] synonym: "Sycosis" EXACT [] xref: EFO:1000702 xref: MESH:D005499 xref: NCI:C94408 is_a: DOID:2723 ! dermatitis is_a: DOID:421 ! hair disease [Term] id: DOID:4411 name: hepatitis E def: "A viral infectious disease that results_in inflammation located_in liver, has_material_basis_in Hepatitis E virus, which is transmitted_by ingestion of contaminated food. The infection has_symptom fever, has_symptom fatigue, has_symptom loss of appetite, has_symptom nausea, has_symptom vomiting, has_symptom abdominal pain, has_symptom clay-colored bowel movements, has_symptom dark urine, has_symptom joint pain, and has_symptom jaundice. (DO)" [http://www.cdc.gov/hepatitis/HEV/HEVfaq.htm#section1 "DO"] synonym: "enterically transmitted non A, non B hepatitis" EXACT [] synonym: "Epidemic Non A, Non B Hepatitis" EXACT [] synonym: "ET-NANBH" EXACT [] synonym: "Hepatitis, Viral, Non-A, Non-B, Enterically-Transmitted" EXACT [] synonym: "water-borne hepatitis" EXACT [] xref: EFO:0007303 xref: GARD:9541 xref: MESH:D016751 xref: MONDO:0005788 is_a: DOID:9002150 ! RNA Virus Infections is_a: DOID:9007329 ! Human Viral Hepatitis [Term] id: DOID:4413 name: cervix melanoma def: "A cervical cancer that has_material_basis_in abnormally proliferating cells derives_from melanocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25046205 "DO"] xref: NCI:C40239 is_a: DOID:1909 ! melanoma is_a: DOID:4362 ! cervical cancer created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:4415 name: fibrous histiocytoma def: "A benign tumor composed, wholly or in part, of cells with the morphologic characteristics of HISTIOCYTES and with various fibroblastic components. Fibrous histiocytomas can occur anywhere in the body. When they occur in the skin, they are called dermatofibromas or sclerosing hemangiomas. (From DeVita Jr et al., Cancer: Principles & Practice of Oncology, 5th ed, p1747)" [MESH:D018219] synonym: "Benign Fibrous Histiocytomas" EXACT [] synonym: "Cutaneous Histiocytoma" EXACT [] synonym: "Cutaneous Histiocytomas" EXACT [] synonym: "Dermatofibroma" EXACT [] synonym: "Dermatofibromas" EXACT [] synonym: "Fibrous Histiocytomas" EXACT [] synonym: "fibroxanthoma" EXACT [] synonym: "Histiocytoma, Benign Fibrous" EXACT [] xref: MESH:D018219 xref: NCI:C3739 is_a: DOID:4231 ! histiocytoma [Term] id: DOID:4418 name: cutaneous fibrous histiocytoma synonym: "benign cutaneous fibrous histiocytoma" EXACT [] synonym: "dermatofibroma" EXACT [] synonym: "EFO:1000885" EXACT [] synonym: "fibrohistiocytic tumor" EXACT [] synonym: "fibrous histiocytoma of skin" EXACT [] synonym: "fibrous xanthoma of skin" EXACT [] synonym: "pleomorphic fibroma" EXACT [] synonym: "sclerosing angioma" EXACT [] synonym: "sclerosing angioma of skin" EXACT [] xref: EFO:1000885 xref: GARD:9807 xref: NCI:C6801 xref: NCI:C7749 xref: NCI:C8402 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:4415 ! fibrous histiocytoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:4419 name: benign deep fibrous histiocytoma xref: NCI:C6492 is_a: DOID:0060092 ! immune system organ benign neoplasm created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:4422 name: malignant adenofibroma xref: NCI:C40035 xref: RDO:9003283 is_a: DOID:4236 ! carcinosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4423 name: sea-blue histiocytosis alt_id: MIM:269600 def: "A sphingolipidosis characterized by dysfunctional metabolism of sphingolipids. (DO)" [https://en.wikipedia.org/wiki/Sea-blue_histiocytosis "DO", https://rarediseases.info.nih.gov/diseases/8241/sea-blue-histiocytosis "DO"] synonym: "APOE2 Isoforms" RELATED [] synonym: "sea-blue histiocyte disease" EXACT [] synonym: "sea-blue histiocyte diseases" EXACT [] synonym: "sea-blue histiocyte syndrome" EXACT [] synonym: "sea-blue histiocyte syndromes" EXACT [] synonym: "sea-blue histiocytoses" EXACT [] xref: EFO:1001170 xref: MESH:D012618 xref: NCI:C85062 xref: ORDO:158029 is_a: DOID:1927 ! sphingolipidosis is_a: DOID:4330 ! non-Langerhans-cell histiocytosis is_a: DOID:9003370 ! Dyslipidemias [Term] id: DOID:4424 name: juvenile xanthogranuloma def: "A non-Langerhans-cell histiocytosis is characterized as a benign skin lump or bump caused by a collection of cells called histiocytes. These may be red, orange or tan at first, but over time may become more yellow in color. These bumps usually appear on the head, neck and trunk. (DO)" [https://www.nationwidechildrens.org/conditions/juvenile-xanthogranuloma "DO", https://www.ncbi.nlm.nih.gov/books/NBK526103/ "DO", MESH:D014972] synonym: "EFO:1000311" EXACT [] synonym: "juvenile xanthogranulomas" EXACT [] synonym: "Juvenile Xanthoma" EXACT [] synonym: "Juvenile Xanthomas" EXACT [] synonym: "multiple eruptive juvenile xanthogranuloma" EXACT [] synonym: "naevoxanthoendothelioma" EXACT [] synonym: "Nevoxanthoendothelioma" EXACT [] synonym: "Nevoxanthoendotheliomas" EXACT [] synonym: "xanthoma neviforme" EXACT [] xref: EFO:1000311 xref: ICDO:9749/1 xref: MESH:D014972 xref: NCI:C3451 is_a: DOID:37 ! skin disease is_a: DOID:4330 ! non-Langerhans-cell histiocytosis [Term] id: DOID:4428 name: dyslexia alt_id: MIM:127700 alt_id: MIM:300509 alt_id: MIM:600202 alt_id: MIM:604254 alt_id: MIM:606616 alt_id: MIM:606896 alt_id: MIM:608995 def: "A reading disorder resulting from a developmental reading disability involving the inability to process graphic symbols resulting in impairment of reading ability. (DO)" [http://en.wikipedia.org/wiki/Dyslexia "DO"] synonym: "Developmental Dyslexia" EXACT [] synonym: "developmental dyslexias" EXACT [] synonym: "developmental reading disabilities" EXACT [] synonym: "Developmental Reading Disability" EXACT [] synonym: "Developmental Reading Disorder" EXACT [] synonym: "developmental reading disorders" EXACT [] synonym: "DNAAF4-RELATED CONDITION" BROAD [] synonym: "dyslexias" EXACT [] synonym: "dyslexia, susceptibility to, 1" RELATED [] synonym: "dyslexia, susceptibility to, 2" RELATED [] synonym: "dyslexia, susceptibility to, 3" RELATED [] synonym: "dyslexia, susceptibility to, 4" RELATED [] synonym: "dyslexia, susceptibility to, 5" RELATED [] synonym: "dyslexia, susceptibility to, 6" RELATED [] synonym: "dyslexia, susceptibility to, 7" RELATED [] synonym: "dyslexia, susceptibility to, 8" RELATED [] synonym: "dyslexia, susceptibility to, 9" RELATED [] synonym: "DYX1" RELATED [] synonym: "DYX2" RELATED [] synonym: "DYX3" RELATED [] synonym: "DYX4" RELATED [] synonym: "DYX5" RELATED [] synonym: "DYX6" RELATED [] synonym: "DYX7" RELATED [] synonym: "DYX8" RELATED [] synonym: "DYX9" RELATED [] synonym: "specific reading disability, 1" NARROW [] synonym: "specific reading disability, 2" NARROW [] synonym: "word blindness" EXACT [] synonym: "word blindness, congenital" EXACT [] xref: EFO:0005424 xref: ICD10CM:F81.0 xref: MESH:D004410 xref: NCI:C96410 is_a: DOID:13365 ! reading disorder is_a: DOID:93 ! language disorder [Term] id: DOID:4430 name: somatostatinoma def: "A SOMATOSTATIN-secreting tumor derived from the pancreatic delta cells (SOMATOSTATIN-SECRETING CELLS). It is also found in the INTESTINE. Somatostatinomas are associated with DIABETES MELLITUS; CHOLELITHIASIS; STEATORRHEA; and HYPOCHLORHYDRIA. The majority of somatostatinomas have the potential for METASTASIS." [MESH:D013005] synonym: "EFO:1001187" EXACT [] synonym: "somatostatin cell neoplasm" EXACT [] synonym: "somatostatin cell tumour" EXACT [] synonym: "somatostatinomas" EXACT [] xref: EFO:1001187 xref: GARD:4900 xref: ICDO:8156/3 xref: MESH:D013005 xref: NCI:C3379 is_a: DOID:1798 ! pancreatic endocrine carcinoma is_a: DOID:1800 ! neuroendocrine carcinoma [Term] id: DOID:4432 name: pancreatic somatostatinoma synonym: "pancreatic delta cell somatostatin producing neoplasm" EXACT [] synonym: "pancreatic Somatostatin cell tumor" EXACT [NCI2004_11_17:C8006] xref: EFO:1001964 xref: NCI:C8006 xref: NCI:C95595 xref: RDO:9004588 is_a: DOID:1799 ! islet cell tumor created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:4433 name: pancreatic delta cell neoplasm synonym: "pancreatic delta cell tumor" EXACT [] xref: NCI:C28396 xref: RDO:9004589 is_a: DOID:1799 ! islet cell tumor created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:4434 name: small intestine neuroendocrine neoplasm synonym: "EFO:1001928" EXACT [] synonym: "grade 1 neuroendocrine neoplasm of jejunum" NARROW [] synonym: "jejunal NET G1" NARROW [] synonym: "Jejunal Neuroendocrine Tumor G1" NARROW [] synonym: "jejunum NET G1" NARROW [] synonym: "jejunum neuroendocrine neoplasm G1" NARROW [] synonym: "small intestine neuroendocrine tumor" EXACT [] xref: EFO:1000308 xref: EFO:1001928 xref: NCI:C5803 is_a: DOID:4119 ! intestinal neuroendocrine benign tumor is_a: DOID:7505 ! small intestine benign neoplasm created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:4435 name: cavernous sinus meningioma synonym: "meningioma of the cavernous sinus" EXACT [] xref: NCI:C5268 is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4436 name: anterior cranial fossa meningioma synonym: "meningioma of the anterior fossa" EXACT [] xref: NCI:C5286 is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4437 name: skull base meningioma synonym: "meningioma of the skull base" EXACT [] xref: NCI:C5272 is_a: DOID:3565 ! meningioma is_a: DOID:3842 ! skull base cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4438 name: central nervous system germinoma alt_id: RDO:9003538 synonym: "germinoma of CNS" EXACT [] xref: GARD:2005 xref: NCI:C7009 is_a: DOID:3304 ! germinoma is_a: DOID:4439 ! central nervous system germ cell tumor [Term] id: DOID:4439 name: central nervous system germ cell tumor def: "A central nervous system cancer that is characterized by tumors near the pineal gland, the pituitary gland and the tissue just above it, develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25233069 "DO"] synonym: "central nervous system germ cell tumour" EXACT [] synonym: "germ cell tumor of the CNS" EXACT [NCI2004_11_17:C5461] synonym: "germ cell tumour of the CNS" EXACT [] xref: NCI:C5461 xref: RDO:9003450 is_a: DOID:2994 ! germ cell cancer is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:4440 name: seminoma def: "A germinoma that has_material_basis_in cells that make sperm and eggs. (DO)" [http://www.cancer.gov/dictionary?CdrID=46577 "DO"] synonym: "pure seminoma" EXACT [] synonym: "seminomas" EXACT [] xref: ICDO:9061/3 xref: MESH:D018239 is_a: DOID:2994 ! germ cell cancer is_a: DOID:3304 ! germinoma [Term] id: DOID:4441 name: dysgerminoma def: "A germ cell cancer that derives_from cells that give rise to egg cells. (DO)" [http://en.wikipedia.org/wiki/Dysgerminoma "DO", http://www.cancer.gov/dictionary?CdrID=672835 "DO"] synonym: "disgerminoma" EXACT [] synonym: "disgerminomas" EXACT [] synonym: "dysgerminomas" EXACT [] xref: ICDO:9060/3 xref: MESH:D004407 xref: NCI:C2996 is_a: DOID:2394 ! ovarian cancer is_a: DOID:3304 ! germinoma [Term] id: DOID:4442 name: cervical alveolar soft part sarcoma def: "An alveolar soft part sarcoma and cervical soft tissue tumor and malignant neoplasm of cervix uteri that is located_in the cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2479947 "DO"] xref: MONDO:0003003 xref: NCI:C40225 is_a: DOID:4362 ! cervical cancer created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:4447 name: cystoid macular edema alt_id: MIM:153880 synonym: "CYMD" EXACT [] synonym: "Cystoid Macular Dystrophy" EXACT [] synonym: "DCMD" EXACT [] synonym: "Macular Dystrophy, Dominant Cystoid" EXACT [] synonym: "MDDC" EXACT [] xref: NCI:C34794 xref: RDO:9004418 is_a: DOID:4449 ! macular retinal edema created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:4448 name: macular degeneration def: "A retinal degeneration characterized by gradual deterioration of light-sensing cells in the tissues at the back of the eye and has_symptom vision loss. (DO)" [http://ghr.nlm.nih.gov/condition/age-related-macular-degeneration "DO", http://rarediseases.info.nih.gov/gard/10260/macular-degeneration/resources/1 "DO"] synonym: "inherited macular dystrophy" NARROW [] synonym: "macular degeneration of retina" EXACT [] synonym: "macular degenerations" EXACT [] synonym: "macular dystrophies" EXACT [] synonym: "macular dystrophy" EXACT [] synonym: "MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION" EXACT [] synonym: "myopic macular degeneration" NARROW [] xref: EFO:0001365 xref: EFO:0009201 xref: EFO:0009606 xref: EFO:0020937 xref: MESH:D008268 xref: MIM:620762 xref: NCI:C123330 xref: ORDO:279 is_a: DOID:8466 ! retinal degeneration is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:4449 name: macular retinal edema alt_id: RDO:0006050 def: "Fluid accumulation in the outer layer of the MACULA LUTEA that results from intraocular or systemic insults. It may develop in a diffuse pattern where the macula appears thickened or it may acquire the characteristic petaloid appearance referred to as cystoid macular edema. Although macular edema may be associated with various underlying conditions, it is most commonly seen following intraocular surgery, venous occlusive disease, DIABETIC RETINOPATHY, and posterior segment inflammatory disease. (From Survey of Ophthalmology 2004; 49(5) 470-90)" [MESH:D008269] synonym: "Central Retinal Edema, Cystoid" EXACT [] synonym: "Cystoid Macular Edema, Postoperative" NARROW [] synonym: "Irvine Gass Syndrome" EXACT [] synonym: "macular edema" EXACT [] synonym: "macular oedema" EXACT [] synonym: "macular retinal oedema" EXACT [] xref: MESH:D008269 xref: NCI:C35468 is_a: DOID:4448 ! macular degeneration is_a: DOID:6929 ! retinal edema [Term] id: DOID:445 name: Bartter disease def: "A group of disorders caused by defective salt reabsorption in the ascending LOOP OF HENLE. It is characterized by severe salt-wasting, HYPOKALEMIA; HYPERCALCIURIA; metabolic ALKALOSIS, and hyper-reninemic HYPERALDOSTERONISM without HYPERTENSION. There are several subtypes including ones due to mutations in the renal specific SODIUM-POTASSIUM-CHLORIDE SYMPORTERS." [MESH:D001477] synonym: "aldosteronism with hyperplasia of the adrenal cortex" EXACT [] synonym: "ANTENATAL BARTTER SYNDROME" NARROW [] synonym: "Bartter's Disease" EXACT [] synonym: "Bartter's syndrome" EXACT [] synonym: "Bartters Disease" EXACT [] synonym: "Bartters syndrome" EXACT [] synonym: "Bartter syndrome" EXACT [] synonym: "juxtaglomerular hyperplasia with secondary aldosteronism" EXACT [] xref: GARD:5893 xref: ICD10CM:E26.81 xref: ICD9CM:255.13 xref: MESH:D001477 xref: MIM:PS601678 xref: NCI:C34412 is_a: DOID:0050177 ! monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:446 ! primary hyperaldosteronism is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:4450 name: renal cell carcinoma alt_id: MIM:144700 def: "A renal carcinoma that has_material_basis_in the lining of the proximal convoluted renal tubule of the kidney. (DO)" [http://en.wikipedia.org/wiki/Renal_cell_carcinoma "DO", http://www.cancer.gov/dictionary?CdrID=661352 "DO"] synonym: "adenocarcinoma of kidney" EXACT [] synonym: "ADENOCARCINOMA OF KIDNEY NONPAPILLARY RENAL CARCINOMA 1 LOCUS" NARROW [] synonym: "chromophil renal cell carcinoma" EXACT [] synonym: "EFO:0000681" EXACT [] synonym: "Grawitz tumor" EXACT [] synonym: "hypernephroid carcinoma" EXACT [] synonym: "hypernephroid carcinomas" EXACT [] synonym: "hypernephroma" EXACT [] synonym: "hypernephromas" EXACT [] synonym: "nephroid carcinoma" EXACT [] synonym: "nephroid carcinomas" EXACT [] synonym: "NRC1" NARROW [] synonym: "RCC" EXACT [] synonym: "renal adenocarcinoma" EXACT [] synonym: "renal cell adenocarcinoma" EXACT [] synonym: "renal cell adenocarcinomas" EXACT [] synonym: "renal cell cancer" EXACT [] synonym: "renal cell cancers" EXACT [] synonym: "renal cell carcinomas" EXACT [] synonym: "renal cell carcinoma, somatic" NARROW [] synonym: "renal cell carcinoma with paraneoplastic erythrocytosis" NARROW [] synonym: "Unclassified Renal Cell Carcinoma" NARROW [] xref: EFO:0000681 xref: EFO:0005708 xref: EFO:1000603 xref: GARD:13215 xref: ICDO:8312/3 xref: MESH:D002292 xref: NCI:C9385 xref: ORDO:217071 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4451 ! renal carcinoma [Term] id: DOID:4451 name: renal carcinoma def: "A kidney cancer that derives_from the lining of the proximal convoluted tubule (the very small tubes in the kidney that filter the blood and remove waste products). (DO)" [http://en.wikipedia.org/wiki/Renal_cell_carcinoma "DO"] synonym: "carcinoma of kidney" EXACT [] synonym: "EFO:0002890" EXACT [] synonym: "kidney carcinoma" EXACT [] xref: EFO:0002890 xref: NCI:C124802 xref: NCI:C9384 is_a: DOID:263 ! kidney cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4454 name: childhood kidney cell carcinoma synonym: "pediatric renal cell carcinoma" EXACT [] xref: ICD-O:M8312/3 xref: NCI:C6568 xref: RDO:9001906 is_a: DOID:4450 ! renal cell carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:4455 name: hereditary renal cell carcinoma synonym: "familial renal carcinoma" EXACT [] synonym: "familial renal cell carcinoma" EXACT [] xref: GARD:9571 xref: MESH:C536851 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:446 name: primary hyperaldosteronism def: "An adrenal gland hyperfunction disease that results in the overproduction of aldosterone by the adrenal glands. (DO)" [https://en.wikipedia.org/wiki/Primary_aldosteronism "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C34510 "DO"] synonym: "aldosteronism" EXACT [] synonym: "Cushing's syndrome" EXACT [] synonym: "Cushing syndrome" EXACT [] synonym: "hyperaldosteronism" EXACT [] synonym: "primary aldosteronism" EXACT [] xref: EFO:0009452 xref: ICD10CM:E24 xref: ICD10CM:E26 xref: ICD9CM:255.0 xref: ICD9CM:255.1 xref: MESH:D006929 xref: MIM:PS103900 xref: MONDO:0001422 xref: NCI:C113213 xref: NCI:C2969 xref: ORDO:235936 is_a: DOID:3947 ! adrenal gland hyperfunction [Term] id: DOID:4463 name: multilocular clear cell renal cell carcinoma synonym: "cystadenocarcinoma of kidney" EXACT [] synonym: "renal cystadenocarcinoma" EXACT [] xref: NCI:C4524 xref: ORDO:319287 is_a: DOID:4450 ! renal cell carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:4464 name: collecting duct carcinoma def: "A renal cell carcinoma that begins in distal collecting ducts of the kidney with a tubulopapillary morphology and intracytoplasmic mucicarminophilic material. (DO)" [https://en.wikipedia.org/wiki/Collecting_duct_carcinoma "DO", https://rarediseases.info.nih.gov/diseases/9573/collecting-duct-carcinoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/26684811 "DO"] synonym: "Bellini duct carcinoma" EXACT [] synonym: "carcinoma of renal collecting duct" EXACT [] synonym: "collecting duct carcinoma (kidney)" EXACT [] synonym: "collecting duct carcinoma of the kidney" EXACT [] synonym: "collecting duct carcinomas" EXACT [] synonym: "EFO:0003016" EXACT [] synonym: "renal carcinoma, collecting duct type" EXACT [] synonym: "renal Medullary carcinoma" EXACT [] xref: EFO:0003016 xref: EFO:1000314 xref: GARD:9573 xref: ICDO:8319/3 xref: NCI:C6194 xref: RDO:9001908 is_a: DOID:305 ! carcinoma is_a: DOID:4450 ! renal cell carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:4465 name: papillary renal cell carcinoma def: "A renal cell carcinoma that is characterized by the development of multiple, bilateral papillary renal tumors. (DO)" [http://cancergenome.nih.gov/cancersselected/kidneypapillary "DO", http://www.omim.org/entry/605074 "DO"] synonym: "chromophil carcinoma of kidney" EXACT [] synonym: "EFO:0000640" EXACT [] synonym: "papillary kidney carcinoma" EXACT [] synonym: "papillary renal cell carcinoma 1" EXACT [] synonym: "RCCP1" EXACT [] synonym: "sporadic papillary renal cell carcinoma" EXACT [] xref: EFO:0000640 xref: GARD:9572 xref: MIM:605074 xref: NCI:C27890 xref: NCI:C6975 is_a: DOID:3113 ! papillary carcinoma is_a: DOID:4450 ! renal cell carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:4467 name: clear cell renal cell carcinoma def: "A renal cell carcinoma that has_material_basis_in cells that appear very pale or clear when examined under microscope. (DO)" [http://www.cancer.gov/dictionary?CdrID=45063 "DO", https://cancergenome.nih.gov/cancersselected/kidneyclearcell "DO"] synonym: "ccRCC" EXACT [] synonym: "clear cell carcinoma of kidney" EXACT [] synonym: "clear cell kidney carcinoma" EXACT [] synonym: "clear-cell metastatic renal cell carcinoma" RELATED [] synonym: "clear cell RCC" EXACT [] synonym: "conventional (Clear cell) renal cell carcinoma" EXACT [] synonym: "conventional renal cell carcinoma" EXACT [] synonym: "cystic-multilocular variant" EXACT [] synonym: "EFO:0000349" EXACT [] synonym: "renal clear cell carcinoma" EXACT [] xref: EFO:0000349 xref: EFO:0000376 xref: EFO:0000682 xref: GARD:9574 xref: MESH:C538445 xref: MONDO:0005005 xref: NCI:C4033 xref: ORDO:319276 is_a: DOID:4450 ! renal cell carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:4468 name: clear cell adenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/clear-cell-adenocarcinoma "DO"] synonym: "clear cell adenocarcinomas" EXACT [] synonym: "EFO:0000348" EXACT [] synonym: "malignant mesonephroma" EXACT [] synonym: "mesonephric adenocarcinoma" EXACT [] synonym: "mesonephroid clear cell carcinoma" EXACT [] synonym: "water-clear cell adenocarcinoma" EXACT [] synonym: "water-clear cell carcinoma" EXACT [] synonym: "Wolffian duct neoplasm" EXACT [] xref: EFO:0000348 xref: EFO:0006719 xref: ICDO:8310/3 xref: MESH:D018262 xref: NCI:C36815 xref: NCI:C3766 xref: NCI:C4072 xref: NCI:C4156 is_a: DOID:299 ! adenocarcinoma is_a: DOID:9006399 ! Mesonephroma [Term] id: DOID:447 name: renal tubular transport disease def: "Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES." [MESH:D015499] synonym: "inborn renal tubular transport disorder" EXACT [] synonym: "Kidney Tubular Transport, Inborn Error" EXACT [] synonym: "Kidney Tubular Transport, Inborn Errors" EXACT [] synonym: "Renal Tubular Transport Errors" EXACT [] synonym: "renal tubular transport, inborn error" EXACT [] synonym: "renal tubular transport, inborn errors" EXACT [] synonym: "renal tubule disease" EXACT [] xref: EFO:0009566 xref: EFO:1000647 xref: MESH:D015499 is_a: DOID:557 ! kidney disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:4471 name: chromophobe renal cell carcinoma def: "A renal cell carcinoma that has_material_basis_in chromophobe cell that appear pale when viewed under microscope, but that are larger and display different features than clear cells. (DO)" [http://www.cancer.org/acs/groups/cid/documents/webcontent/003107-pdf.pdf "DO", https://rarediseases.info.nih.gov/diseases/6064/chromophobe-renal-cell-carcinoma "DO"] synonym: "chromophobe adenocarcinoma" EXACT [] synonym: "Chromophobe carcinoma of kidney" EXACT [] synonym: "EFO:0000335" EXACT [] synonym: "kidney chromophobe" EXACT [] synonym: "renal cell carcinoma, chromophobe cell" EXACT [] xref: EFO:0000335 xref: GARD:6064 xref: NCI:C4146 xref: RDO:9001911 is_a: DOID:4450 ! renal cell carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:4472 name: mucinous tubular and spindle renal cell carcinoma xref: NCI:C39807 xref: RDO:9001912 is_a: DOID:4450 ! renal cell carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:4473 name: sarcomatoid renal cell carcinoma synonym: "renal cell carcinoma, spindle cell" EXACT [] xref: NCI:C27893 xref: RDO:9001913 is_a: DOID:4450 ! renal cell carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:4479 name: pseudohypoaldosteronism def: "A heterogeneous group of disorders characterized by renal electrolyte transport dysfunctions. Congenital forms are rare autosomal disorders characterized by neonatal hypertension, HYPERKALEMIA, increased RENIN activity and ALDOSTERONE concentration. The Type I features HYPERKALEMIA with sodium wasting; Type II, HYPERKALEMIA without sodium wasting. Pseudohypoaldosteronism can be the result of a defective renal electrolyte transport protein or acquired after KIDNEY TRANSPLANTATION." [MESH:D011546] synonym: "familial hyperpotassemia and hypertension" EXACT [] synonym: "Familial Hypertensive Hyperkalemia" EXACT [] synonym: "Familial Hypertensive Hyperkalemias" EXACT [] synonym: "Pseudohypoaldosteronisms" EXACT [] synonym: "pseudohypoaldosteronism type 1" NARROW [] synonym: "pseudohypoaldosteronism type 2" NARROW [] synonym: "pseudohypoaldosteronism type I" NARROW [] synonym: "pseudohypoaldosteronism type II" NARROW [] xref: MESH:D011546 xref: MIM:PS145260 xref: MIM:PS177735 xref: NCI:C85034 is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:4480 name: achondroplasia def: "An osteochondrodysplasia that is characterized by short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand and that has_material_basis_in heterozygous mutation in the fibroblast growth factor receptor-3 gene (FGFR3) on chromosome 4p16.3. Achondroplasia results in dwarfism due to the abnormal ossification of cartilage in the long bone. (DO)" [http://en.wikipedia.org/wiki/Achondroplasia "DO", http://ghr.nlm.nih.gov/condition/achondroplasia "DO", http://www.mayoclinic.com/health/dwarfism/DS01012/DSECTION%3Dsymptoms "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001577.htm "DO", https://www.genome.gov/Genetic-Disorders/Achondroplasia "DO"] synonym: "ACH" EXACT [] synonym: "achondroplasias" EXACT [] synonym: "achondroplastic physique" EXACT [] synonym: "chondrodystrophia" EXACT [] synonym: "osteosclerosis congenita" EXACT [] synonym: "skeleton-skin-brain syndrome" EXACT [] synonym: "skeleton-skin-brain syndromes" EXACT [] xref: EFO:0004121 xref: GARD:8173 xref: ICD10CM:Q77.4 xref: MESH:D000130 xref: MIM:100800 xref: MONDO:0007037 xref: NCI:C34345 xref: ORDO:15 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:4481 name: allergic rhinitis alt_id: MIM:607154 def: "A rhinitis that is an allergic inflammation and irritation of the nasal airways involving sneezing, runny nose, nasal congestion, itching and tearing of the eyes caused by exposure to an allergen such as pollen, dust, mold, animal dander and droppings of cockroaches or house dust mites. (DO)" [http://en.wikipedia.org/wiki/Allergic_rhinitis "DO", http://en.wikipedia.org/wiki/Rhinitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=allergic%20rhinitis "DO"] synonym: "allergic rhinitides" EXACT [] synonym: "ALRH" EXACT [] synonym: "atopic rhinitis" EXACT [] synonym: "hay fever" NARROW [] synonym: "non-seasonal allergic rhinitis" EXACT [] synonym: "perenial allergic rhinitis" EXACT [] synonym: "pollenosis" EXACT [] xref: EFO:0005854 xref: MESH:D065631 xref: NCI:C34987 xref: NCI:C79532 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:4483 ! rhinitis [Term] id: DOID:4483 name: rhinitis def: "A upper respiratory infectious disease which involves irritation and inflammation of the mucous membrane of the nose due to viruses, bacteria or irritants. The inflammation results in generation of excessive amounts of mucus leading to runny nose, as well as nasal congestion and post-nasal drip. (DO)" [http://en.wikipedia.org/wiki/Rhinitis "DO"] synonym: "nasal catarrh" EXACT [] synonym: "rhinitides" EXACT [] synonym: "runny nose" EXACT [] xref: EFO:0008521 xref: MESH:D012220 xref: NCI:C34986 is_a: DOID:2163 ! nasal cavity disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:4486 name: malignant biphasic mesothelioma synonym: "biphasic mesothelioma" EXACT [] synonym: "EFO:1000124" EXACT [] synonym: "mixed mesothelioma" EXACT [] xref: EFO:1000124 xref: MONDO:0006109 xref: NCI:C4282 is_a: DOID:1790 ! malignant mesothelioma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:4488 name: sarcomatoid mesothelioma synonym: "EFO:1000521" EXACT [] synonym: "malignant fibrous mesothelioma" EXACT [] synonym: "spindled mesothelioma" EXACT [] xref: EFO:1000521 xref: NCI:C45655 is_a: DOID:1790 ! malignant mesothelioma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:4489 name: malignant epithelial mesothelioma synonym: "EFO:0006452" EXACT [] synonym: "malignant epithelioid mesothelioma" EXACT [] synonym: "Pleural Epithelioid Mesothelioma" NARROW [] xref: EFO:0006452 xref: EFO:1000351 xref: EFO:1000484 xref: NCI:C7985 is_a: DOID:1790 ! malignant mesothelioma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:4490 name: malignant peritoneal solitary fibrous tumor def: "A peritoneum cancer that is characterized by the presence of prominent hemangiopericytoma-like vessels and that arises from the peritoneum. (DO)" [https://medscimonit.com/abstract/index/idArt/459077/act/3 "DO"] synonym: "malignant peritoneal solitary fibrous tumour" EXACT [] synonym: "pleural and peritoneal solitary fibrous tumor" EXACT [] synonym: "pleural and peritoneal solitary fibrous tumour" EXACT [] is_a: DOID:1725 ! peritoneum cancer created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:4491 name: persian gulf syndrome def: "A syndrome affecting returning military veterans and civilian workers of the Gulf War. (DO)" [http://en.wikipedia.org/wiki/Gulf_War_syndrome "DO"] synonym: "gulf war syndrome" EXACT [] xref: EFO:0007430 xref: MESH:D018923 is_a: DOID:225 ! syndrome is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:4492 name: avian influenza def: "An influenza that results in infection located in respiratory tract of humans, domestic and wild birds, has_material_basis_in Influenza A virus, which is transmitted by contact with infected poultry. Five strains of avian influenza A viruses (H5N1, H7N3, H7N2, H7N7 and H9N2) are known to cause human infections. The infection has_symptom fever, has_symptom cough, has_symptom sore throat, has_symptom muscle aches, has_symptom nausea, has_symptom diarrhea, has_symptom vomiting, has_symptom neurologic changes, has_symptom pneumonia, and has_symptom acute respiratory distress. (DO)" [http://www.cdc.gov/flu/avian/gen-info/avian-flu-humans.htm "DO", http://www.who.int/mediacentre/factsheets/avian_influenza/en/index.html "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=avian%20influenza "DO"] synonym: "Avian Flu" EXACT [] synonym: "avian influenzas" EXACT [] synonym: "bird flu" EXACT [] synonym: "Fowl Plague" EXACT [] synonym: "influenza in bird" EXACT [] synonym: "influenza in birds" EXACT [] xref: EFO:0005222 xref: ICD10CM:J09.X xref: MESH:D005585 is_a: DOID:8469 ! influenza is_a: DOID:9006114 ! Bird Diseases [Term] id: DOID:450 name: myotonic disease alt_id: MESH:D009223 def: "A muscular dystrophy that is characterized by progressive muscle wasting and weakness. (DO)" [http://en.wikipedia.org/wiki/Myotonic_dystrophy "DO", http://ghr.nlm.nih.gov/condition/myotonic-dystrophy "DO", http://www.genome.gov/25521207 "DO"] synonym: "myotonic disorder" EXACT [] synonym: "myotonic disorders" EXACT [] synonym: "myotonic myopathies" EXACT [] synonym: "myotonic myopathy" EXACT [] synonym: "PARAMYOTONIA CONGENITA/MYOTONIA CONGENITA" BROAD [] xref: ICD9CM:359.2 xref: MESH:D020967 xref: MIM:PS160900 xref: NCI:C84913 is_a: DOID:0080000 ! muscular disease is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:4500 name: hypokalemia def: "Abnormally low potassium concentration in the blood. It may result from potassium loss by renal secretion or by the gastrointestinal route, as by vomiting or diarrhea. It may be manifested clinically by neuromuscular disorders ranging from weakness to paralysis, by electrocardiographic abnormalities (depression of the T wave and elevation of the U wave), by renal disease, and by gastrointestinal disorders. (Dorland, 27th ed)" [MESH:D007008] synonym: "hypokalemias" EXACT [] synonym: "hypopotassemia" EXACT [] synonym: "hypopotassemias" EXACT [] synonym: "potassium deficiency disorder" EXACT [] xref: MESH:D007008 xref: NCI:C34939 is_a: DOID:0050032 ! mineral metabolism disease is_a: DOID:9004004 ! Water-Electrolyte Imbalance [Term] id: DOID:4501 name: orofaciodigital syndrome def: "A syndrome that is characterized by malformations of the face, oral cavity, and digits. (DO)" [http://en.wikipedia.org/wiki/Orofaciodigital_syndrome "DO", https://ghr.nlm.nih.gov/condition/oral-facial-digital-syndrome#inheritance "DO"] synonym: "dysplasia linguofacialis" EXACT [] synonym: "Gorlin Psaume syndrome" EXACT [] synonym: "oral-facial-digital syndrome" EXACT [] synonym: "orodigitofacial dysostosis" EXACT [] synonym: "orodigitofacial syndrome" EXACT [] synonym: "oro-facio-digital syndrome" EXACT [] synonym: "orofaciodigital syndromes" EXACT [] xref: MESH:D009958 xref: MIM:PS311200 is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:9004151 ! Sex Chromosome Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:4504 name: central nervous system angiosarcoma def: "A central nervous system sarcoma that is located_in the inner lining of blood vessels. (DO)" [http://thejns.org/doi/abs/10.3171/jns.1991.75.1.0073 "DO"] synonym: "hemangiosarcoma of the CNS" EXACT [] xref: NCI:C5450 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:2133 ! central nervous system sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4505 name: childhood angiosarcoma def: "An angiosarcoma that affects children. (DO)" [http://findarticles.com/p/articles/mi_qa3725/is_201003/ai_n53080216/ "DO"] synonym: "paediatric angiosarcoma" EXACT [] synonym: "paediatric hemangiosarcoma" EXACT [] synonym: "pediatric angiosarcoma" EXACT [] synonym: "pediatric hemangiosarcoma" EXACT [] xref: NCI:C9174 is_a: DOID:0001816 ! angiosarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4510 name: aorta angiosarcoma def: "An angiosarcoma that is located_in the aorta. (DO)" [https://academic.oup.com/icvts/article/6/6/832/649705 "DO", https://pubmed.ncbi.nlm.nih.gov/34238080/ "DO"] synonym: "aortic hemangiosarcoma" EXACT [] xref: NCI:C5376 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:520 ! aortic disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4511 name: breast angiosarcoma alt_id: RDO:0001929 def: "An angiosarcoma and sarcoma of breast and vascular neoplasm of breast that is located_in the cells that line the blood vessels within the breast or underarm area. (DO)" [http://breastcancer.about.com/od/types/p/angiosarcoma.htm "DO"] synonym: "angiosarcoma of the breast" EXACT [] synonym: "hemangiosarcoma of the breast" EXACT [NCI2004_11_17:C5184] xref: MESH:C536368 xref: NCI:C5184 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:3017 ! breast sarcoma [Term] id: DOID:4512 name: conventional angiosarcoma xref: NCI:C9426 xref: RDO:9003654 is_a: DOID:0001816 ! angiosarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4513 name: gallbladder angiosarcoma def: "An angiosarcoma and gallbladder sarcoma that is located_in the gallbladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15861270 "DO"] synonym: "hemangiosarcoma of gallbladder" EXACT [] xref: MONDO:0003026 xref: NCI:C5840 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:4058 ! gallbladder sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4514 name: thyroid angiosarcoma def: "A thyroid sarcoma and angiosarcoma that results_in a high prevalence of iodine-deficient goiter. (DO)" [http://www.pathologyoutlines.com/thyroid.html "DO"] synonym: "hemangiosarcoma of the Thyroid" EXACT [NCI2004_11_17:C6043] xref: NCI:C6043 xref: RDO:9003657 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:4515 ! thyroid sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4515 name: thyroid sarcoma def: "A thyroid gland cancer that is located_in the supporting cells of the thyroid. (DO)" [http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_thyroid_cancer_43.asp "DO"] synonym: "sarcoma of the thyroid gland" EXACT [] xref: EFO:1001971 xref: NCI:C6041 xref: RDO:9003199 is_a: DOID:1115 ! sarcoma is_a: DOID:1781 ! thyroid cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4517 name: skin angiosarcoma def: "An angiosarcoma and hemangioma of skin and malignant skin vascular tumor and sarcoma of skin that is located_in the skin and results_in an enlarged bruise (a blue-black nodule) and an unhealed ulceration. (DO)" [http://ezinearticles.com/?Symptoms-of-Angiosarcoma&id=2101634 "DO"] synonym: "angiosarcoma of skin" EXACT [] synonym: "hemangiosarcoma of the skin" EXACT [] xref: NCI:C4489 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:2687 ! skin sarcoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:452 name: pleomorphic adenoma alt_id: DOID:9003620 alt_id: MIM:181030 def: "A gastrointestinal system benign neoplasm that is a located_in the salivary glands. (DO)" [http://en.wikipedia.org/wiki/Pleomorphic_adenoma "DO"] synonym: "chondroid syringoma" EXACT [] synonym: "chondroid syringomas" EXACT [] synonym: "mixed salivary gland tumor" EXACT [] synonym: "mixed tumor of the salivary gland" EXACT [] synonym: "Parotid Gland Pleomorphic Adenoma" NARROW [] synonym: "PLAG1-RELATED CONDITION" BROAD [] synonym: "pleomorphic adenomas" EXACT [] synonym: "pleomorphic salivary gland adenoma" EXACT [] synonym: "PSA" EXACT [] synonym: "SGPA" EXACT [] xref: EFO:1000384 xref: EFO:1000462 xref: ICDO:8940/0 xref: MESH:C563250 xref: MESH:D008949 xref: NCI:C35691 xref: NCI:C40409 xref: NCI:C8602 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:657 ! adenoma is_a: DOID:9003216 ! Salivary Gland Neoplasms is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:4520 name: cervical endometrial stromal sarcoma def: "A cervix endometrical stromal tumor that has_material_basis_in abnormally proliferating cells derives_from embryonic mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22986788 "DO"] synonym: "endometrial stromal sarcoma of the cervix" EXACT [] xref: MONDO:0003030 xref: NCI:C40220 is_a: DOID:4521 ! cervix endometrial stromal tumor created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:4521 name: cervix endometrial stromal tumor def: "A cervical cancer that derives_from the fibrous connective tissue of the endometrium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17619891 "DO"] xref: NCI:C40218 xref: RDO:9002074 is_a: DOID:1005 ! endometrial disease is_a: DOID:4362 ! cervical cancer created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:4522 name: superior vena cava angiosarcoma synonym: "angiosarcoma of the Superior Vena Cava" EXACT [NCI2004_11_17:C5378] xref: NCI:C5378 xref: RDO:9003658 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:175 ! vascular cancer is_a: DOID:866 ! vein disease created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4524 name: prostate angiosarcoma def: "An angiosarcoma and sarcoma of prostate that is located_in the prostate. (DO)" [http://informahealthcare.com/doi/abs/10.3109/00313029009063790?journalCode=pat "DO"] synonym: "prostatic hemangiosarcoma" EXACT [] xref: NCI:C5528 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:4054 ! prostate sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4525 name: mediastinum angiosarcoma def: "An angiosarcoma and sarcoma of the mediastinum that is located_in the mediastinum. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5925857/ "DO"] synonym: "hemangiosarcoma of mediastinum" EXACT [] xref: NCI:C6613 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:4050 ! mediastinum sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4527 name: ovarian angiosarcoma def: "An ovary sarcoma that is a malignant vascular tumor that derives_from blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24520828 "DO"] synonym: "hemangiosarcoma of ovary" EXACT [] xref: NCI:C5232 xref: RDO:9003662 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:2146 ! ovary sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4531 name: mucoepidermoid carcinoma def: "A carcinoma that is characterized by the presence of cuboidal mucous cells, goblet-like mucous cells, squamoid cells, cystic changes, and a fibrotic stromal formation. (DO)" [http://en.wikipedia.org/wiki/Mucoepidermoid_carcinoma "DO"] synonym: "MEC" EXACT [] synonym: "mucoepidermoid carcinomas" EXACT [] xref: GARD:10671 xref: ICDO:8430/3 xref: MESH:D018277 xref: NCI:C3772 is_a: DOID:305 ! carcinoma is_a: DOID:9006112 ! Mucoepidermoid Tumor [Term] id: DOID:4534 name: Hallermann-Streiff syndrome alt_id: MIM:234100 def: "A syndrome that affects growth, cranial development, hair growth and dental development. (DO)" [http://en.wikipedia.org/wiki/Hallermann-Streiff_syndrome "DO"] synonym: "Francois Dyscephalic Syndrome" EXACT [] synonym: "Francois dyscephalic syndromes" EXACT [] synonym: "Hallermann's syndrome" EXACT [] synonym: "Hallermanns Syndrome" EXACT [] synonym: "Hallermann-Streiff-Francois syndrome" EXACT [] synonym: "Hallermann syndrome" EXACT [] synonym: "Hallerman-Streiff syndrome" EXACT [] synonym: "HSS" EXACT [] xref: GARD:288 xref: MESH:D006210 xref: NCI:C84746 xref: ORDO:2108 is_a: DOID:225 ! syndrome is_a: DOID:2339 ! Crouzon syndrome [Term] id: DOID:4535 name: hypotrichosis alt_id: OMIA:001279 def: "A hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has_material_basis_in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles. (DO)" [http://en.wikipedia.org/wiki/Hypotrichosis "DO", http://ghr.nlm.nih.gov/condition/autosomal-recessive-hypotrichosis "DO"] synonym: "AH" EXACT [] synonym: "ARWH2" NARROW [] synonym: "Hypotrichoses" EXACT [] synonym: "hypotrichosis, autosomal recessive" NARROW [] synonym: "hypotrichosis, recessive" NARROW [] synonym: "HYPOTRICHOSIS WITH WOOLLY HAIR" EXACT [] synonym: "LOCALIZED AR HYPOTRICHOSIS" NARROW [] synonym: "WH/HT" NARROW [] synonym: "Woolly Hair, Autosomal Recessive 2, With Or Without Hypotrichosis" RELATED [] xref: MESH:D007039 xref: MIM:PS605389 xref: NCI:C34720 is_a: DOID:421 ! hair disease [Term] id: DOID:4540 name: dysgraphia def: "A writing disorder that involves a deficiency in the ability to write where the writing is distorted or incorrect, spelling difficulty, poor handwriting or trouble putting thoughts on paper. (DO)" [http://en.wikipedia.org/wiki/Dysgraphia "DO", http://www.ninds.nih.gov/disorders/dysgraphia/dysgraphia.htm "DO"] xref: ICD10CM:R48.8 is_a: DOID:0060047 ! writing disorder [Term] id: DOID:4541 name: nominal aphasia def: "An agnosia that involves a severe problem with recalling words or names. (DO)" [http://en.wikipedia.org/wiki/Nominal_aphasia "DO"] synonym: "Amnesic Aphasia" EXACT [] synonym: "anomia" EXACT [] synonym: "Anomic Aphasia" EXACT [] synonym: "Anomic Dysphasia" EXACT [] synonym: "anomic dysphasias" EXACT [] synonym: "Color Anomia" EXACT [] synonym: "Color Anomias" EXACT [] synonym: "Dysnomia" EXACT [] synonym: "Dysnomias" EXACT [] synonym: "Nominal Dysphasia" EXACT [] synonym: "nominal dysphasias" EXACT [] xref: MESH:D000849 xref: NCI:C34386 is_a: DOID:0060046 ! aphasia is_a: DOID:93 ! language disorder [Term] id: DOID:4542 name: basophil adenoma def: "A small tumor of the anterior lobe of the pituitary gland whose cells stain with basic dyes. It may give rise to excessive secretion of ACTH, resulting in CUSHING SYNDROME. (Dorland, 27th ed)" [MESH:D000237] synonym: "Basophil Adenomas" EXACT [] synonym: "Basophilic Adenoma" EXACT [] synonym: "Basophilic Adenomas" EXACT [] synonym: "EFO:1000834" EXACT [] synonym: "pituitary gland basophilic adenoma" EXACT [] xref: EFO:1000834 xref: ICDO:8300/0 xref: MESH:D000237 xref: NCI:C2856 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:3829 ! pituitary adenoma is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:4543 name: retrograde amnesia def: "An amnestic disorder that involves a loss of one's pre-existing memories to conscious recollection. (DO)" [http://en.wikipedia.org/wiki/Amnesia "DO"] synonym: "Pre-Ictal Amnesia" EXACT [] synonym: "pre-ictal amnesias" EXACT [] synonym: "Pre Ictal Memory Loss" EXACT [] synonym: "Pre-Ictal Memory Losses" EXACT [] synonym: "Retrograde Amnesias" EXACT [] synonym: "Retrograde Memory Loss" EXACT [] synonym: "retrograde memory losses" EXACT [] xref: ICD10CM:R41.2 xref: MESH:D000648 xref: NCI:C34372 is_a: DOID:10914 ! amnestic disorder [Term] id: DOID:4545 name: mesenchymal chondrosarcoma def: "A rare aggressive variant of chondrosarcoma, characterized by a biphasic histologic pattern of small compact cells intermixed with islands of cartilaginous matrix. Mesenchymal chondrosarcomas have a predilection for flat bones; long tubular bones are rarely affected. They tend to occur in the younger age group and are highly metastatic. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1456)" [MESH:D018211] synonym: "EFO:1001041" EXACT [] synonym: "Mesenchymal Chondrosarcomas" EXACT [] xref: EFO:1001041 xref: ICDO:9240/3 xref: MESH:D018211 xref: NCI:C3737 is_a: DOID:3371 ! chondrosarcoma [Term] id: DOID:4546 name: childhood mesenchymal chondrosarcoma synonym: "pediatric mesenchymal chondrosarcoma" EXACT [] xref: ICD-O:M9240/3 xref: NCI:C27374 is_a: DOID:4545 ! mesenchymal chondrosarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:4547 name: adult mesenchymal chondrosarcoma def: "An adult sarcoma of soft tissue and mesenchymal chondrosarcoma that is located_in the cartilage. (DO)" [http://sarcomahelp.org/learning_center/mesenchymal_chondrosarcoma.html "DO"] xref: NCI:C27375 is_a: DOID:4545 ! mesenchymal chondrosarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:4548 name: extraskeletal mesenchymal chondrosarcoma synonym: "mesenchymal extraosseous chondrosarcoma" EXACT [] xref: NCI:C27481 is_a: DOID:4549 ! extraskeletal myxoid chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4549 name: extraskeletal myxoid chondrosarcoma alt_id: DOID:6496 alt_id: MIM:612237 def: "A chondrosarcoma that is located_in exclusively soft tissue and that is characterized by the presence of chondroblast-like cells in a myxoid stroma and a multinodular growth pattern. (DO)" [https://en.wikipedia.org/wiki/Myxoid_chondrosarcoma "DO", https://pubmed.ncbi.nlm.nih.gov/10564384/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/16084955 "DO"] synonym: "EMC" EXACT [] synonym: "extraosseous chondrosarcoma" EXACT [] synonym: "myxoid extraosseous chondrosarcoma" EXACT [] synonym: "TAF15-RELATED CONDITION" EXACT [] xref: MESH:C563195 xref: NCI:C27502 xref: ORDO:209916 is_a: DOID:3371 ! chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4550 name: anal gland neoplasm def: "Tumors or cancer of the anal gland." [MESH:D000694] synonym: "anal gland neoplasms" EXACT [] synonym: "Circumanal Gland Neoplasm" EXACT [] synonym: "Circumanal Gland Neoplasms" EXACT [] synonym: "Perianal Gland Neoplasm" EXACT [] synonym: "Perianal Gland Neoplasms" EXACT [] xref: EFO:1000804 xref: MESH:D000694 xref: RDO:0004819 is_a: DOID:4551 ! anus benign neoplasm is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:4551 name: anus benign neoplasm def: "Tumors or cancer of the ANAL CANAL." [MESH:D001005] synonym: "anal neoplasm" EXACT [] synonym: "anal neoplasms" EXACT [] synonym: "anal tumors" EXACT [] synonym: "anus neoplasms" EXACT [] synonym: "neoplasm of anus" EXACT [] xref: EFO:0003835 xref: MESH:D001005 xref: MONDO:0021469 xref: NCI:C2877 is_a: DOID:1984 ! rectal benign neoplasm is_a: DOID:3128 ! anus disease [Term] id: DOID:4552 name: large cell carcinoma def: "A carcinoma that is composed of large, monotonous rounded or overtly polygonal-shaped cells with abundant cytoplasm. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "large cell carcinomas" EXACT [] xref: ICDO:8012/3 xref: MESH:D018287 xref: NCI:C3780 is_a: DOID:305 ! carcinoma [Term] id: DOID:4553 name: thymus large cell carcinoma synonym: "large cell carcinoma of the thymus" EXACT [] xref: NCI:C6461 xref: RDO:9004827 is_a: DOID:3284 ! thymic carcinoma is_a: DOID:4552 ! large cell carcinoma created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:4554 name: type C thymoma synonym: "EFO:1000576" EXACT [] xref: EFO:1000576 xref: NCI:C7569 is_a: DOID:3275 ! thymoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4555 name: ovarian large-cell neuroendocrine carcinoma def: "An ovarian carcinoma that is characterized by large pleiomorphic cells with large round or oval nuclei, presence of mitoses and staining for neuroendocrine (NE) markers and has_material_basis_in neuroendocrine cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4014794/ "DO"] synonym: "non-small-cell type neuroendocrine carcinoma of ovary" EXACT [] xref: NCI:C5238 is_a: DOID:4001 ! ovarian carcinoma is_a: DOID:4552 ! large cell carcinoma [Term] id: DOID:4556 name: lung large cell carcinoma synonym: "EFO:0003050" EXACT [] synonym: "large cell carcinoma of lung" EXACT [] synonym: "Lymphoepithelioma-Like Lung Carcinoma" NARROW [] xref: EFO:0003050 xref: EFO:1000016 xref: EFO:1000340 xref: NCI:C4450 is_a: DOID:3908 ! lung non-small cell carcinoma is_a: DOID:4552 ! large cell carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:4557 name: oral leukoedema def: "A mouth disease that is characterized by the presence of filmy opalescence of the mucosa in the early stages to a whitish gray cast with a coarsely wrinkled surface in the later stages, associated with intracellular edema of the spinous or malpighian layer. (DO)" [https://en.wikipedia.org/wiki/Leukoedema "DO"] synonym: "leukedema of mouth" EXACT [] synonym: "oral leukoedemas" EXACT [] xref: EFO:1001075 xref: MESH:D007967 is_a: DOID:403 ! mouth disease [Term] id: DOID:4558 name: Ludwig's angina alt_id: RDO:0006028 def: "Severe cellulitis of the submaxillary space with secondary involvement of the sublingual and submental space. It usually results from infection in the lower molar area or from a penetrating injury to the mouth floor. (From Dorland, 27th ed)" [MESH:D008158] synonym: "cellulitis of floor of mouth" EXACT [] synonym: "Ludwig angina" EXACT [] synonym: "Ludwigs angina" EXACT [] xref: EFO:1000730 xref: MESH:D008158 is_a: DOID:3488 ! cellulitis is_a: DOID:403 ! mouth disease [Term] id: DOID:456 name: ascariasis alt_id: MIM:604291 def: "A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation. (DO)" [http://en.wikipedia.org/wiki/Ascariasis "DO", http://www.dpd.cdc.gov/DPDx/HTML/Ascariasis.htm "DO", http://www.merck.com/mmpe/sec14/ch182/ch182d.html?qt=ascariasis&alt=sh "DO"] synonym: "ascariases" EXACT [] synonym: "ascariasis - roundworm" EXACT [] synonym: "ascaris lumbricoides infection" EXACT [] xref: EFO:0007154 xref: ICD10CM:B77 xref: ICD9CM:127.0 xref: MESH:D001196 xref: NCI:C128392 is_a: DOID:9000395 ! Ascaridida Infections [Term] id: DOID:4560 name: non specific chronic endometritis def: "An endometritis that is present for weeks or more and does not have an identifiable causative organism. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9653909 "DO"] xref: NCI:C27625 xref: RDO:9003768 is_a: DOID:1002 ! endometritis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4561 name: granulomatous endometritis def: "An endometritis that is characterized by the presence of granulomas in the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1326899 "DO"] xref: NCI:C27626 xref: RDO:9003772 is_a: DOID:1002 ! endometritis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4562 name: subacute bacterial endocarditis def: "ENDOCARDIUM infection that is usually caused by STREPTOCOCCUS. Subacute infective endocarditis evolves over weeks and months with modest toxicity and rare metastatic infection." [MESH:D004698] synonym: "Endocarditis Lenta" EXACT [] synonym: "SBE - subacute bacterial endocarditis" EXACT [] synonym: "Subacute Bacterial Endocarditides" EXACT [] synonym: "subacute endocarditis lenta" EXACT [] xref: EFO:1001193 xref: MESH:D004698 xref: NCI:C34583 is_a: DOID:0060000 ! infective endocarditis is_a: DOID:9006552 ! Bacterial Endocarditis is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:4584 name: choroid plexus meningioma synonym: "choroid meningioma" EXACT [] synonym: "meningioma of the choroid plexus" EXACT [] xref: NCI:C4719 is_a: DOID:3540 ! choroid plexus cancer is_a: DOID:6112 ! cerebral meningioma created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:4586 name: familial meningioma alt_id: MIM:607174 synonym: "FAMILIAL MULTIPLE MENINGIOMA" NARROW [] synonym: "MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO" RELATED [] synonym: "MN1-RELATED CONDITION" BROAD [] xref: MESH:C537443 xref: NCI:C5301 is_a: DOID:3565 ! meningioma is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:4587 name: benign meningioma xref: NCI:C4055 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4588 name: secretory meningioma xref: EFO:1000522 xref: NCI:C4718 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4591 name: lymphoplasmacyte-rich meningioma synonym: "lymphoplasmocyte-rich meningioma" EXACT [] xref: EFO:1000342 xref: NCI:C4720 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4593 name: childhood meningioma synonym: "pediatric meningioma" EXACT [] xref: NCI:C8264 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4594 name: microcystic meningioma xref: EFO:1000376 xref: NCI:C4721 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4603 name: epidermolytic hyperkeratosis alt_id: OMIA:001415 def: "An ichthyosis that is characterized by generalized erythema, skin blisters and skin fragility, manifested at birth. (DO)" [https://dermnetnz.org/topics/epidermolytic-ichthyosis "DO", https://medlineplus.gov/genetics/condition/epidermolytic-hyperkeratosis/ "DO", MESH:D017488] synonym: "BCIE" EXACT [] synonym: "BIE" EXACT [] synonym: "bullous congenital ichthyosiform erythroderma" EXACT [] synonym: "bullous erythroderma ichthyosiforme" EXACT [] synonym: "bullous erythroderma ichthyosiformis congenita of Brocq" EXACT [] synonym: "bullous ichthyosiform erythroderma" EXACT [] synonym: "bullous ichthyosiform erythrodermas" EXACT [] synonym: "EHK" EXACT [] synonym: "epidermolytic hyperkeratoses" EXACT [] synonym: "epidermolytic ichthyosis" EXACT [] synonym: "epidermolytic palmoplantar hyperkeratosis" EXACT [] xref: EFO:0004137 xref: GARD:1039 xref: ICD10CM:Q80.3 xref: MESH:D017488 xref: MIM:PS113800 xref: MIM:PS607602 xref: MONDO:0007239 xref: NCI:C62569 is_a: DOID:1697 ! ichthyosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:4606 name: bile duct cancer def: "A biliary tract cancer that is located_in the bile duct. (DO)" [http://www.cancer.gov/dictionary/?CdrID=527370 "DO"] synonym: "bile duct cancers" EXACT [] synonym: "bile duct tumor" EXACT [] synonym: "Ca extrahepatic bile ducts" EXACT [] synonym: "cancer of bile duct" EXACT [] synonym: "cancer of the bile duct" EXACT [] synonym: "malignant neoplasm of the extrahepatic bile duct" EXACT [] xref: ICD10CM:C24.0 xref: ICD9CM:156.1 xref: NCI:C2898 xref: NCI:C7483 is_a: DOID:4607 ! biliary tract cancer is_a: DOID:9002936 ! Bile Duct Neoplasms created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:4607 name: biliary tract cancer def: "A hepatobiliary system cancer that results_in malignant growth located_in the gallbladder or located_in the bile duct. (DO)" [http://en.wikipedia.org/wiki/Biliary_tract_cancer "DO"] synonym: "malignant tumour of biliary tract" EXACT [SNOMEDCT_2005_07_31:93688006] xref: GARD:5924 xref: GARD:9304 xref: ICD10CM:C24.9 xref: ICD9CM:156.9 xref: RDO:9003932 is_a: DOID:0080355 ! hepatobiliary system cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4608 name: common bile duct neoplasm alt_id: RDO:0005246 def: "Tumor or cancer of the COMMON BILE DUCT including the AMPULLA OF VATER and the SPHINCTER OF ODDI." [MESH:D003138] synonym: "common bile duct neoplasms" EXACT [] synonym: "EFO:1000876" EXACT [] synonym: "neoplasm of common bile duct" EXACT [] xref: EFO:1000876 xref: MESH:D003138 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:4137 ! common bile duct disease is_a: DOID:9002936 ! Bile Duct Neoplasms [Term] id: DOID:461 name: muscle benign neoplasm synonym: "myomatous neoplasm" EXACT [SNOMEDCT_2005_07_31:189786009] synonym: "myomatous tumor" EXACT [NCI2004_11_17:C4063] synonym: "neoplasm of muscle" EXACT [SNOMEDCT_2005_07_31:126616000] xref: NCI:C4063 xref: RDO:9005020 is_a: DOID:0060099 ! musculoskeletal system benign neoplasm is_a: DOID:9003582 ! Muscle Tissue Neoplasms created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:4610 name: intestinal benign neoplasm def: "A gastrointestinal system benign neoplasm that is located_in the intestine. (DO)" [http://en.wikipedia.org/wiki/Benign_tumor "DO"] synonym: "intestinal tumors" EXACT [] synonym: "intestine growth" EXACT [] synonym: "neoplasm of intestinal tract" EXACT [] xref: NCI:C3141 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:9002245 ! Intestinal Neoplasms created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4613 name: ulnar neuropathy def: "Disease involving the ULNAR NERVE from its origin in the BRACHIAL PLEXUS to its termination in the hand. Clinical manifestations may include PARESIS or PARALYSIS of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the AXILLA, cubital tunnel at the ELBOW, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" [MESH:D020424] synonym: "Ulnar Nerve Disease" EXACT [] synonym: "ulnar nerve diseases" EXACT [] synonym: "Ulnar Nerve Palsies" EXACT [] synonym: "Ulnar Nerve Palsy" EXACT [] synonym: "Ulnar Neuritides" EXACT [] synonym: "ulnar neuritis" EXACT [] synonym: "ulnar neuropathies" EXACT [] xref: EFO:1001224 xref: MESH:D020424 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:4617 name: periapical granuloma def: "Chronic nonsuppurative inflammation of periapical tissue resulting from irritation following pulp disease or endodontic treatment." [MESH:D010484] synonym: "apical granuloma" EXACT [] synonym: "chronic nonsuppurative apical periodontitis" EXACT [] synonym: "chronic nonsuppurative periapical periodontitis" EXACT [] synonym: "Dental Granuloma" EXACT [] synonym: "Dental Granulomas" EXACT [] synonym: "Periapical Granulomas" EXACT [] xref: EFO:1001096 xref: MESH:D010484 is_a: DOID:823 ! periapical periodontitis [Term] id: DOID:4618 name: maxillary cancer def: "A jaw cancer that effects the maxilla or upper jaw. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654824/ "DO"] synonym: "EFO:0007360" EXACT [] synonym: "upper jaw bone cancer" RELATED [] xref: EFO:0007360 is_a: DOID:1862 ! jaw cancer is_a: DOID:9002201 ! Maxillary Neoplasms [Term] id: DOID:4621 name: holoprosencephaly def: "A congenital nervous system abnormality characterized by failed or incomplete separation of the forebrain early in gestation; it is accompanied by a spectrum of characteristic craniofacial anomalies. (DO)" [http://en.wikipedia.org/wiki/Holoprosencephaly "DO", http://www.ncbi.nlm.nih.gov/books/NBK1530/ "DO"] synonym: "alobar holoprosencephalies" EXACT [] synonym: "alobar holoprosencephaly" EXACT [] synonym: "arhinencephalies" EXACT [] synonym: "Arhinencephaly" EXACT [] synonym: "DeMyer sequence" EXACT [] synonym: "FOXH1-RELATED CONDITION" NARROW [] synonym: "Holoprosencephalies" EXACT [] synonym: "Holoprosencephaly, Familial Alobar" EXACT [] synonym: "holoprosencephaly sequence" EXACT [] synonym: "HOLOPROSENCEPHALY SPECTRUM DISORDER" BROAD [] synonym: "HPEC" EXACT [] synonym: "HPE, familial" EXACT [] synonym: "lobar holoprosencephalies" EXACT [] synonym: "lobar holoprosencephaly" EXACT [] synonym: "microform holoprosencephaly" NARROW [] synonym: "semilobar holoprosencephalies" EXACT [] synonym: "semilobar holoprosencephaly" EXACT [] xref: GARD:6665 xref: ICD10CM:Q04.2 xref: MESH:D016142 xref: MIM:PS236100 xref: NCI:C74988 xref: ORDO:2162 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:4624 name: Ollier disease def: "A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet. (DO)" [http://en.wikipedia.org/wiki/Ollier_disease "DO", http://rarediseases.info.nih.gov/GARD/Condition/7251/Ollier_disease.aspx "DO"] synonym: "chondrodysplasia with hemangioma" EXACT [] synonym: "chondroplasia angiomatosis" EXACT [] synonym: "dyschondrodysplasia with hemangiomas" EXACT [] synonym: "dyschondroplasia" EXACT [] synonym: "Dyschondroplasia and Cavernous Hemangioma" EXACT [] synonym: "Enchondromatoses" EXACT [] synonym: "enchondromatosis" EXACT [] synonym: "Enchondromatosis, Multiple" EXACT [] synonym: "ENCHONDROMATOSIS, MULTIPLE, OLLIER TYPE" EXACT [] synonym: "enchondromatosis with haemangiomata" EXACT [] synonym: "Enchondromatosis with Hemangiomata" EXACT [] synonym: "Enchondromatosis with Multiple Cavernous Hemangiomas" EXACT [] synonym: "Hemangiomata with Dyschondroplasia" EXACT [] synonym: "Hemangiomatosis Chondrodystrophica" EXACT [] synonym: "Kast's syndrome" EXACT [] synonym: "Kast Syndrome" EXACT [] synonym: "Multiple Angiomas and Endochondromas" EXACT [] synonym: "Multiple Enchondroma" EXACT [] synonym: "Multiple Enchondromas" EXACT [] synonym: "multiple enchondroses" EXACT [] synonym: "multiple enchondrosis" EXACT [] synonym: "Ollier's disease" EXACT [] synonym: "Olliers disease" EXACT [] synonym: "osteochondromatosis" EXACT [] xref: GARD:7251 xref: ICD10CM:Q78.4 xref: MESH:D004687 xref: MIM:166000 xref: MONDO:0008145 xref: NCI:C3008 xref: NCI:C3213 xref: ORDO:296 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:4626 name: hydranencephaly alt_id: RDO:0003417 def: "A congenital condition where the greater portions of the cerebral hemispheres and CORPUS STRIATUM are replaced by CSF and glial tissue. The meninges and the skull are well formed, which is consistent with earlier normal embryogenesis of the telencephalon. Bilateral occlusions of the internal carotid arteries in utero is a potential mechanism. Clinical features include intact brainstem reflexes without evidence of higher cortical activity. (Menkes, Textbook of Child Neurology, 5th ed, p307)" [MESH:D006832] synonym: "Cerebral Hemispheres, Absence, Congenital" EXACT [] synonym: "Congenital Absence of Cerebral Hemispheres" EXACT [] synonym: "Hemihydranencephalies" EXACT [] synonym: "Hemihydranencephaly" EXACT [] synonym: "Hydranencephalies" EXACT [] synonym: "Hydranencephaly with Proliferative Vasculopathy" EXACT [] xref: GARD:6681 xref: MESH:D006832 xref: NCI:C98949 is_a: DOID:0060668 ! anencephaly [Term] id: DOID:4627 name: ideomotor apraxia def: "A form of apraxia characterized by an acquired inability to carry out a complex motor activity despite the ability to mentally formulate the action. This condition has been attributed to a disruption of connections between the dominant parietal cortex and supplementary and premotor cortical regions in both hemispheres. (From Adams et al., Principles of Neurology, 6th ed, p57)" [MESH:D020240] synonym: "Classic Apraxia" EXACT [] synonym: "Classic Apraxias" EXACT [] synonym: "Ideokinetic Apraxia" EXACT [] synonym: "Ideokinetic Apraxias" EXACT [] synonym: "Ideomotor Apraxias" EXACT [] synonym: "Ideomotor Dyspraxia" EXACT [] synonym: "Ideomotor Dyspraxias" EXACT [] synonym: "Limb Kinetic Apraxia" EXACT [] synonym: "Limb Kinetic Apraxias" EXACT [] synonym: "Transcortical Apraxia" EXACT [] synonym: "Transcortical Apraxias" EXACT [] xref: EFO:1000980 xref: MESH:D020240 xref: RDO:0007370 is_a: DOID:0060135 ! apraxia [Term] id: DOID:4630 name: inverted transitional papilloma xref: NCI:C4118 is_a: DOID:2670 ! transitional papilloma is_a: DOID:3179 ! inverted papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4633 name: nasal cavity inverting papilloma synonym: "inverting papilloma of the nasal cavity" EXACT [] xref: NCI:C8194 is_a: DOID:9310 ! nasal cavity benign neoplasm [Term] id: DOID:4636 name: submandibular adenitis def: "Inflammation of the submandibular lymph nodes. (NCI)" [] synonym: "submandibular lymphadenitis" EXACT [] xref: NCI:C27016 is_a: DOID:4637 ! cervical adenitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4637 name: cervical adenitis synonym: "cervical lymphadenitis" EXACT [] xref: NCI:C26937 is_a: DOID:1602 ! lymphadenitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4638 name: postauricular lymphadenitis xref: NCI:C27332 xref: RDO:9003861 is_a: DOID:1602 ! lymphadenitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4639 name: suppurative lymphadenitis synonym: "suppurative lymphadenopathy" EXACT [] xref: NCI:C27135 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:1602 ! lymphadenitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4640 name: axillary adenitis xref: NCI:C27333 is_a: DOID:1602 ! lymphadenitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4644 name: epidermolysis bullosa simplex alt_id: OMIA:002080 def: "An epidermolysis bullosa that is characterized by recurrent blistering at the level of the epidermis secondary to minor trauma, which can cause limited wounds, dehydration, electrolyte abnormalities, severe infection, among other issues, and has_material_basis_in mutation in the KRT5, KRT14, or PLEC genes, which encode keratin and plectin proteins that provide resilience in skin. (DO)" [https://ghr.nlm.nih.gov/condition/epidermolysis-bullosa-simplex#genes "DO"] synonym: "EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Epidermolysis Bullosa Simplex, Cockayne Touraine Type" EXACT [] synonym: "Epidermolysis bullosa, simplex, PLEC" NARROW [] synonym: "Epidermolysis bullosa, simplex, PLEC-related" NARROW [] xref: GARD:10752 xref: MESH:D016110 xref: MIM:PS131760 xref: NCI:C84692 xref: ORDO:304 is_a: DOID:2730 ! epidermolysis bullosa [Term] id: DOID:4645 name: retinal cancer synonym: "cancer of the retina" EXACT [] synonym: "EFO:0005716" EXACT [] synonym: "malignant neoplasm of retina" EXACT [] synonym: "malignant retinal neoplasm" EXACT [] synonym: "malignant tumor of retina" EXACT [] synonym: "retinal cancers" EXACT [] xref: EFO:0005716 xref: ICD10CM:C69.2 xref: ICD9CM:190.5 xref: NCI:C3216 xref: NCI:C4800 is_a: DOID:2174 ! ocular cancer is_a: DOID:9006483 ! Retinal Neoplasms created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:4647 name: trilateral retinoblastoma def: "A retinoblastoma that refers to bilateral retinoblastoma associated with an intracranial primitive neuroectodermal tumor located_in the pineal or suprasellar region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10391573 "DO"] is_a: DOID:768 ! retinoblastoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4648 name: familial retinoblastoma synonym: "familial retinoblastomas" EXACT [] synonym: "hereditary retinoblastoma" EXACT [] synonym: "hereditary retinoblastomas" EXACT [] xref: NCI:C8495 xref: ORDO:357027 is_a: DOID:768 ! retinoblastoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4650 name: bilateral retinoblastoma def: "A retinoblastoma that develops in both eyes. (DO)" [http://en.wikipedia.org/wiki/Retinoblastoma "DO"] xref: NCI:C8713 xref: RDO:9003467 is_a: DOID:768 ! retinoblastoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4651 name: unilateral retinoblastoma def: "A retinoblastoma that effects only one eye. (DO)" [http://en.wikipedia.org/wiki/Retinoblastoma "DO"] xref: NCI:C8714 xref: RDO:9003468 is_a: DOID:768 ! retinoblastoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4653 name: intraocular retinoblastoma def: "A retinoblastoma that is located_in the eye and has not spread to other parts of the body. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28620731 "DO"] xref: NCI:C7846 is_a: DOID:768 ! retinoblastoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4656 name: extraocular retinoblastoma def: "A retinoblastoma that has spread from the soft tissues surrounding the eye or to the optic nerve beyond the margin of resection to other parts of the body. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 "DO"] xref: NCI:C7848 is_a: DOID:768 ! retinoblastoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4658 name: benign mastocytoma xref: NCI:C9303 is_a: DOID:0060084 ! cell type benign neoplasm [Term] id: DOID:4659 name: extracutaneous mastocytoma def: "A solid tumor consisting of a dense infiltration of MAST CELLS. It is generally benign." [MESH:D034801] synonym: "EFO:1000932" EXACT [] synonym: "extracutaneous mastocytomas" EXACT [] xref: EFO:1000932 xref: ICD10CM:D47.09 xref: MESH:D034801 xref: NCI:C7136 is_a: DOID:349 ! systemic mastocytosis is_a: DOID:3664 ! mast cell neoplasm is_a: DOID:4658 ! benign mastocytoma [Term] id: DOID:4660 name: indolent systemic mastocytosis synonym: "indolent systemic mastocytoses" EXACT [] synonym: "ISM" EXACT [] xref: ICD10CM:D47.02 xref: ICDO:9741/1 xref: NCI:C9286 is_a: DOID:349 ! systemic mastocytosis is_a: DOID:3664 ! mast cell neoplasm created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4661 name: multiple chemical sensitivity def: "A syndrome that is an adverse physical reaction to low levels of many common chemicals. (DO)" [http://en.wikipedia.org/wiki/Multiple_chemical_sensitivity "DO", http://www.osha.gov/SLTC/multiplechemicalsensitivities/index.html "DO"] synonym: "20th century disease" EXACT [] synonym: "chemical AIDS" EXACT [] synonym: "idiopathic environmental illness" EXACT [] synonym: "idiopathic environmental intolerance" EXACT [] synonym: "idiopathic environmental intolerances" EXACT [] synonym: "multiple chemical sensitivities" EXACT [] synonym: "multiple chemical sensitivity syndrome" EXACT [] synonym: "total allergy syndrome" EXACT [] xref: EFO:0007382 xref: MESH:D018777 is_a: DOID:225 ! syndrome is_a: DOID:9003858 ! Environmental Illness [Term] id: DOID:4662 name: thalamic disease def: "A brain disease that is characterized by Dejerine-Roussy syndrome that develops from thalamic injury. (DO)" [https://en.wikipedia.org/wiki/Thalamus "DO"] synonym: "Dejerine Roussy Syndrome" EXACT [] synonym: "thalamic diseases" EXACT [] synonym: "Thalamic Syndrome" EXACT [] synonym: "Thalamic Syndromes" EXACT [] xref: MESH:D013786 xref: NCI:C85186 is_a: DOID:936 ! brain disease [Term] id: DOID:4664 name: filamentary keratitis xref: ICD10CM:H16.12 xref: ICD9CM:370.23 is_a: DOID:4677 ! keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:4667 name: kyphosis alt_id: DOID:9003358 def: "A bone structure disease that has_material_basis_in an abnormal curvature located_in vertebral column. (DO)" [http://en.wikipedia.org/wiki/Kyphosis "DO", http://www.mayoclinic.com/health/kyphosis/DS00681 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001240.htm "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/kyphosis#\:~\:text=Postural%20kyphosis%3A%20the%20most%20common\,used%20to%20help%20correct%20posture "DO", https://www.ncbi.nlm.nih.gov/books/NBK558945/ "DO"] synonym: "kyphoses" EXACT [] synonym: "kyphosis deformity of spine" EXACT [] xref: MESH:D007738 is_a: DOID:9002608 ! Spinal Curvatures created_by: mtutaj creation_date: 2023-07-21T10:06:56Z [Term] id: DOID:4668 name: congenital kyphosis def: "A kyphosis that results_in abnormal formation located_in body of vertebra. (DO)" [http://en.wikipedia.org/wiki/Kyphosis "DO", http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html "DO", http://www.posna.org/education/StudyGuide/congenitalKyphosis.asp "DO", http://www.wheelessonline.com/ortho/congenital_kyphosis "DO"] is_a: DOID:4667 ! kyphosis created_by: mtutaj creation_date: 2023-07-21T10:10:34Z [Term] id: DOID:467 name: venous hemangioma xref: ICDO:9122/0 xref: NCI:C4296 is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4671 name: freemartinism def: "A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric 'female'(CHIMERISM)." [MESH:D005611] xref: EFO:1000939 xref: MESH:D005611 is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:4674 name: androgen insensitivity syndrome alt_id: MIM:300068 def: "A disorder of sexual development that is characterized by the inability of the cell to respond to androgens in individuals with a karyotype of 46,XY resulting in female physical traits but male genetic makeup. (DO)" [http://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome "DO", https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome "DO", https://www.ncbi.nlm.nih.gov/books/NBK1429/ "DO"] synonym: "AIS" EXACT [] synonym: "androgen insensitivity syndromes" EXACT [] synonym: "androgen receptor deficiencies" EXACT [] synonym: "Androgen Receptor Deficiency" EXACT [] synonym: "Androgen Resistance Syndrome" EXACT [] synonym: "androgen resistance syndromes" EXACT [] synonym: "AR Deficiencies" EXACT [] synonym: "AR Deficiency" EXACT [] synonym: "DHTR Deficiencies" EXACT [] synonym: "DHTR Deficiency" EXACT [] synonym: "Dihydrotestosterone Receptor Deficiencies" EXACT [] synonym: "Dihydrotestosterone Receptor Deficiency" EXACT [] synonym: "Feminisation - testicular" EXACT [] synonym: "Goldberg-Maxwell syndrome" EXACT [] synonym: "Male Pseudohermaphroditism Due to Androgen Insensitivity" EXACT [] synonym: "Testicular Feminization" EXACT [] synonym: "testicular feminizations" EXACT [] synonym: "testicular feminization syndrome" EXACT [] synonym: "testicular feminization syndromes" EXACT [] synonym: "TFM" EXACT [] xref: GARD:5803 xref: ICD10CM:E34.5 xref: ICD9CM:259.51 xref: MESH:D013734 xref: NCI:C120191 xref: NCI:C27226 xref: ORDO:754 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1923 ! disorder of sexual development is_a: DOID:225 ! syndrome is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:4675 name: uremic neuropathy xref: NCI:C27055 xref: RDO:9003040 is_a: DOID:4676 ! uremia created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4676 name: uremia def: "A clinical syndrome associated with the retention of renal waste products or uremic toxins in the blood. It is usually the result of RENAL INSUFFICIENCY. Most uremic toxins are end products of protein or nitrogen CATABOLISM, such as UREA or CREATININE. Severe uremia can lead to multiple organ dysfunctions with a constellation of symptoms." [MESH:D014511] synonym: "UREMIA OF renal ORIGIN" EXACT [] synonym: "Uremias" EXACT [] xref: EFO:1001226 xref: MESH:D014511 xref: RDO:0005752 is_a: DOID:1074 ! kidney failure is_a: DOID:557 ! kidney disease [Term] id: DOID:4677 name: keratitis def: "A corneal disease that is characterized by inflammation of the cornea. (DO)" [http://www.mayoclinic.org/diseases-conditions/keratitis/basics/definition/con-20035288 "DO"] synonym: "keratitides" EXACT [] xref: EFO:0009449 xref: ICD10CM:H16 xref: ICD9CM:370 xref: MESH:D007634 xref: NCI:C26805 is_a: DOID:10124 ! corneal disease [Term] id: DOID:4678 name: thymus mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the thymus. (DO)" [https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html "DO"] synonym: "mucoepidermoid carcinoma of the thymus" EXACT [] xref: NCI:C6457 is_a: DOID:3284 ! thymic carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:4679 name: breast mucoepidermoid carcinoma def: "A breast metaplastic carcinoma that is characterized by the presence of four cell types (basaloid, intermediate, epidermoid, and mucinous) in varying proportions. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5758243/ "DO"] synonym: "mucoepidermoid carcinoma of breast" EXACT [] synonym: "mucoepidermoid carcinoma of the breast" EXACT [] xref: NCI:C5166 xref: RDO:9004466 is_a: DOID:4531 ! mucoepidermoid carcinoma is_a: DOID:4680 ! breast metaplastic carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:468 name: intramuscular hemangioma synonym: "intramuscular angioma" EXACT [] synonym: "intramuscular hemangiomas" EXACT [] xref: ICDO:9132/0 xref: NCI:C3699 is_a: DOID:461 ! muscle benign neoplasm is_a: DOID:469 ! deep angioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4680 name: breast metaplastic carcinoma def: "A breast carcinoma that represents a mixed group of malignant neoplasms characterized by the histologic presence of two or more cellular types. (DO)" [http://www.archivesofpathology.org/doi/pdf/10.5858/arpa.2013-0358-RS?code=coap-site "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3388429/ "DO"] synonym: "EFO:1000040" EXACT [] synonym: "metaplastic carcinoma of breast" EXACT [] synonym: "metaplastic carcinoma of the breast" EXACT [] xref: EFO:1000040 xref: EFO:1000374 xref: GARD:10804 xref: ICDO:8575/3 xref: NCI:C5164 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:4681 name: bile duct mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in a bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35140960/ "DO", https://pubmed.ncbi.nlm.nih.gov/35697621/ "DO"] synonym: "mucoepidermoid carcinoma of the bile duct" EXACT [] xref: NCI:C5862 is_a: DOID:4531 ! mucoepidermoid carcinoma is_a: DOID:4897 ! bile duct carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:4682 name: extrahepatic bile duct carcinoma def: "A cholangiocarcinoma that arises from the extrahepatic bile ducts. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/extrahepatic-bile-duct-cancer "DO"] synonym: "carcinoma of extrahepatic bile duct" EXACT [] synonym: "extrahepatic bile duct cancer" EXACT [] xref: MONDO:0003090 xref: NCI:C3860 is_a: DOID:4947 ! cholangiocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:4683 name: cutaneous mucoepidermoid carcinoma synonym: "mucoepidermoid carcinoma of skin" EXACT [] synonym: "mucoepidermoid skin carcinoma" EXACT [] xref: NCI:C4472 is_a: DOID:3451 ! skin carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:4685 name: lacrimal gland mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the lacrimal gland. (DO)" [https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html "DO"] synonym: "mucoepidermoid carcinoma of the lacrimal gland" EXACT [] xref: MONDO:003092 xref: NCI:C6091 is_a: DOID:293 ! lacrimal gland carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:4686 name: mucoepidermoid esophageal carcinoma synonym: "Mucoepidermoid carcinoma of the esophagus" EXACT [NCI2004_11_17:C5343] xref: NCI:C5343 xref: RDO:9002305 is_a: DOID:1107 ! esophageal carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:4687 name: thyroid gland mucoepidermoid carcinoma def: "A thyroid gland carcinoma that is composed of groups of squamoid and mucous cells, surrounded by fibrous tissue. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38762 "DO"] synonym: "EFO:1000590" EXACT [] synonym: "mucoepidermoid thyroid carcinoma" EXACT [] xref: EFO:1000590 xref: NCI:C38762 xref: RDO:9003201 is_a: DOID:3963 ! thyroid gland carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4688 name: laryngeal mucoepidermoid carcinoma def: "A mucoepidermoid carcinoma located_in the larynx. (DO)" [https://www.pathologyoutlines.com/topic/salivaryglandsMEC.html "DO"] synonym: "mucoepidermoid carcinoma of larynx" EXACT [] xref: NCI:C9463 is_a: DOID:2600 ! laryngeal carcinoma is_a: DOID:4531 ! mucoepidermoid carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:469 name: deep angioma xref: NCI:C6555 is_a: DOID:255 ! hemangioma [Term] id: DOID:4690 name: childhood mediastinal neurogenic tumor synonym: "childhood mediastinal neurogenic tumour" EXACT [] synonym: "paediatric neurogenic tumour of mediastinum" EXACT [] synonym: "pediatric neurogenic tumor of mediastinum" EXACT [] xref: ICD-O:M9540/3 xref: NCI:C5429 is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm [Term] id: DOID:4691 name: malignant mediastinal neurogenic neoplasm def: "A mediastinal cancer that has_material_basis_in neural cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11154721 "DO"] synonym: "neurogenic tumor of mediastinum" EXACT [] xref: NCI:C6624 xref: RDO:9002768 is_a: DOID:5559 ! mediastinal cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:4692 name: endophthalmitis def: "A globe disease that is characterized by inflammation of the inside of the eye. (DO)" [http://en.wikipedia.org/wiki/Endophthalmitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=endophthalmitis "DO", https://www.merckmanuals.com/home/eye-disorders/uveitis-and-related-disorders/endophthalmitis "DO"] synonym: "endophthalmitides" EXACT [] synonym: "Infectious Endophthalmitides" EXACT [] synonym: "Infectious Endophthalmitis" EXACT [] synonym: "Ophthalmia" EXACT [] synonym: "ophthalmias" EXACT [] xref: MESH:D009877 xref: NCI:C34586 is_a: DOID:1242 ! globe disease is_a: DOID:9008201 ! Eye Infections [Term] id: DOID:4693 name: nerve plexus neoplasm synonym: "neural plexus tumors" EXACT [] xref: NCI:C5822 xref: RDO:9004107 is_a: DOID:1192 ! peripheral nervous system neoplasm [Term] id: DOID:4696 name: intraneural perineurioma xref: GARD:10921 xref: NCI:C6911 is_a: DOID:4697 ! perineurioma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:4697 name: perineurioma synonym: "perineuriomas" EXACT [] synonym: "soft tissue perineurioma" EXACT [] xref: GARD:12698 xref: ICDO:9571/0 xref: NCI:C4973 xref: NCI:C6912 is_a: DOID:3193 ! peripheral nerve sheath neoplasm created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:4698 name: nerve root neoplasm synonym: "tumor of nerve root" EXACT [] xref: NCI:C5119 is_a: DOID:1192 ! peripheral nervous system neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:4699 name: epicardium cancer synonym: "Epicardial tumor" EXACT [NCI2004_11_17:C5347] synonym: "malignant Epicardial tumor" EXACT [NCI2004_11_17:C4568] synonym: "malignant neoplasm of epicardium" EXACT [] xref: NCI:C5347 xref: RDO:9005076 is_a: DOID:116 ! pericardium cancer created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:47 name: prostate disease def: "Pathological processes involving the PROSTATE or its component tissues." [MESH:D011469] synonym: "Prostatic Disease" EXACT [] synonym: "Prostatic Diseases" EXACT [] xref: EFO:0009602 xref: ICD10CM:N42.9 xref: ICD9CM:602.9 xref: MESH:D011469 xref: NCI:C26865 xref: RDO:0006418 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:470 name: verrucous keratotic hemangioma def: "This is a skin hemangioma characterized by the presence of epidermal hyperplasia." [] synonym: "verrucous hemangioma" EXACT [] synonym: "VERRUCOUS VENOUS MALFORMATION" EXACT [] xref: ICDO:9142/0 xref: NCI:C4299 xref: ORDO:464318 is_a: DOID:471 ! skin hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4702 name: mongolian spot alt_id: RDO:0007559 def: "A bluish-gray to gray-brown benign, melanocytic nevus found usually in the LUMBOSACRAL REGION of dark-skinned people, especially those of East Asian ancestry. It is usually congenital or appears shortly after birth, and disappears in childhood." [MESH:D049328] synonym: "Mongolian Blue Spot" EXACT [] synonym: "Mongolian macula" EXACT [] xref: EFO:1000736 xref: MESH:D049328 xref: NCI:C3945 is_a: DOID:37 ! skin disease is_a: DOID:9005120 ! Pigmented Nevus [Term] id: DOID:4706 name: infratentorial cancer def: "A brain cancer that is located_in the infratentorial region. (DO)" [http://en.wikipedia.org/wiki/Tentorium_cerebelli "DO", http://www.ncbi.nlm.nih.gov/mesh/68015192 "DO"] synonym: "infratentorial brain neoplasm" EXACT [] synonym: "infratentorial cancers" EXACT [] synonym: "malignant infratentorial tumors" EXACT [] xref: ICD10CM:C71.7 xref: NCI:C3139 xref: NCI:C4966 is_a: DOID:1319 ! brain cancer is_a: DOID:9001662 ! Infratentorial Neoplasms [Term] id: DOID:4707 name: cervicomedullary junction neoplasm synonym: "tumor of the cervicomedullary junction" EXACT [] xref: NCI:C5423 is_a: DOID:4706 ! infratentorial cancer [Term] id: DOID:4708 name: foramen magnum meningioma synonym: "meningioma of the foramen magnum" EXACT [] xref: NCI:C5280 is_a: DOID:3565 ! meningioma is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:471 name: skin hemangioma synonym: "angioma of the skin" EXACT [] synonym: "angiomatous naevus of skin" EXACT [] xref: NCI:C4905 is_a: DOID:255 ! hemangioma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:4715 name: gastric neuroendocrine neoplasm synonym: "Gastric Neuroendocrine Tumor G1" NARROW [] synonym: "neuroendocrine tumor of the stomach" EXACT [NCI2004_11_17:C5696] xref: EFO:1000275 xref: NCI:C24219 xref: NCI:C5696 xref: RDO:9004100 is_a: DOID:4148 ! gastrointestinal neuroendocrine benign tumor created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:4716 name: malignant gastric germ cell tumor synonym: "germ cell tumor of the stomach" EXACT [] synonym: "germ cell tumour of the stomach" EXACT [] synonym: "malignant gastric germ cell tumour" EXACT [] xref: MONDO:0003112 xref: NCI:C6448 is_a: DOID:10534 ! stomach cancer created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:4717 name: extragonadal germ cell cancer def: "A germ cell cancer that derives_from germ cells that are found in areas of the body other than the ovary or testicle. The tumors originate in the sperm forming cells in the testicles or egg producing cells in the ovary. (DO)" [http://tcrc.acor.org/egc.html "DO", http://www.cancer.gov/cancertopics/types/extragonadal-germ-cell "DO"] synonym: "extragonadal germ cell malignant tumor" EXACT [] synonym: "neoplasm of Extragonadal germ cell" EXACT [] synonym: "tumor of extragonadal germ cell" EXACT [] xref: NCI:C3918 xref: NCI:C8881 xref: RDO:9003433 is_a: DOID:2994 ! germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4719 name: bone giant cell sarcoma def: "A malignant giant cell tumor that is composed_of multinucleated giant cells. (DO)" [http://en.wikipedia.org/wiki/Giant_cell_tumor_of_bone "DO"] synonym: "EFO:1000347" EXACT [] synonym: "giant cell sarcoma of the bone" EXACT [] synonym: "malignant giant cell tumor of bone" EXACT [] xref: EFO:1000347 xref: NCI:C4304 is_a: DOID:2705 ! malignant giant cell tumor [Term] id: DOID:472 name: subglottic angioma synonym: "hemangioma of the subglottis" EXACT [] xref: NCI:C6026 is_a: DOID:10069 ! subglottis benign neoplasm is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4723 name: intracranial hypotension def: "A brain disease that is characterized by low pressure inside the skull, and thus in the brain tissue and cerebrospinal fluid; may occur as a result of an occult or iatrogenically caused leak of CSF into another body cavity; may result in the downward displacement of the cerebellar tonsils through the foramen magnum or Chiari malformation; has_symptom orthostatic headache; other symptoms are related to compression of cranial nerves due to brain sagging. (DO)" [https://en.wikipedia.org/wiki/Cerebrospinal_fluid_leak "DO", https://en.wikipedia.org/wiki/Intracranial_pressure "DO", https://en.wikipedia.org/wiki/Spontaneous_cerebrospinal_fluid_leak "DO"] synonym: "Cerebrospinal Fluid Hypovolemia" EXACT [] synonym: "Cerebrospinal Fluid Hypovolemias" EXACT [] synonym: "CSF Hypovolemia" EXACT [] synonym: "CSF Hypovolemias" EXACT [] synonym: "Essential Intracranial Hypotension" EXACT [] synonym: "Secondary Intracranial Hypotension" EXACT [] synonym: "Spontaneous Intracranial Hypotension" EXACT [] xref: EFO:1000993 xref: ICD10CM:G96.81 xref: MESH:D019585 is_a: DOID:936 ! brain disease [Term] id: DOID:4724 name: brain edema def: "A brain disease that is characterized by excess accumulation of fluid in the intracellular and/or extracellular spaces of the brain, has_symptom nausea, has_symptom vomiting, has_symptom blurred vision, has_symptom seizure, has_symptom coma. (DO)" [https://en.wikipedia.org/wiki/Cerebral_edema "DO"] synonym: "Brain Swelling" EXACT [] synonym: "brain swellings" EXACT [] synonym: "Cerebral Edema" EXACT [] synonym: "Cerebral Edemas, Vasogenic" EXACT [] synonym: "Cytotoxic Brain Edema" EXACT [] synonym: "Cytotoxic Cerebral Edema" EXACT [] synonym: "Intracranial Edema" EXACT [] synonym: "intracranial swelling" EXACT [] synonym: "Vasogenic Brain Edema" EXACT [] synonym: "vasogenic cerebral edema" EXACT [] synonym: "wet brain" EXACT [] xref: EFO:1000845 xref: MESH:D001929 is_a: DOID:9000197 ! Edema is_a: DOID:936 ! brain disease [Term] id: DOID:4730 name: vasomotor rhinitis def: "A rhinitis which involves a hypersensitive reaction to various potentially irritating stimuli such as changes in weather, temperature, or barometric pressure, chemical irritants such as smoke, ozone, pollution, perfumes, and aerosol sprays, psychological stress and emotional shocks, medications, alcohol, and spicy food. (DO)" [http://en.wikipedia.org/wiki/Rhinitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=vasomotor%20rhinitis "DO"] synonym: "vasomotor rhinitides" EXACT [] xref: EFO:0007533 xref: ICD10CM:J30.0 xref: MESH:D012223 xref: NCI:C34988 is_a: DOID:4483 ! rhinitis [Term] id: DOID:4731 name: atrophic rhinitis def: "A rhinitis which involves inflammation of the nose characterized by atrophy of nasal mucosa including the glands, turbinate bones, and the nerve elements supplying the nose that is caused by heredity factors, endocrine imbalance, nutritional deficiency, bacterial infection and autoimmune issues. (DO)" [http://en.wikipedia.org/wiki/atrophic_rhinitis "DO", http://www.springerlink.com/content/d2712j215h42656g/fulltext.pdf "DO"] synonym: "atrophic rhinitides" EXACT [] synonym: "dry rhinitis" EXACT [] synonym: "Ozaena" EXACT [] synonym: "Ozena" EXACT [] synonym: "ozenas" EXACT [] synonym: "rhinitis sicca" RELATED [] xref: EFO:0007159 xref: MESH:D012222 is_a: DOID:4483 ! rhinitis [Term] id: DOID:4734 name: calciphylaxis def: "Condition of induced systemic hypersensitivity in which tissues respond to appropriate challenging agents with a sudden local calcification." [MESH:D002115] synonym: "Calciphylaxes" EXACT [] synonym: "Idiopathic Calciphylaxis" EXACT [] xref: GARD:5980 xref: MESH:D002115 xref: NCI:C84607 xref: RDO:0005093 is_a: DOID:182 ! calcinosis [Term] id: DOID:4737 name: somatoform disorder alt_id: MESH:D011602 def: "A disease of mental health that involves physical symptoms suggesting a physical illness where the biological or medical cause of the symptoms is indeterminate. (DO)" [http://en.wikipedia.org/wiki/Somatoform_disorder "DO"] synonym: "Briquet syndrome" EXACT [] synonym: "medically unexplained syndrome" EXACT [] synonym: "medically unexplained syndromes" EXACT [] synonym: "physiological malfunction arising from mental factor" EXACT [] synonym: "psychophysiological disorder" EXACT [] synonym: "psychophysiological disorders" EXACT [] synonym: "psychophysiologic disorder" EXACT [] synonym: "psychophysiologic disorders" EXACT [] synonym: "psychosomatic disorder" EXACT [] synonym: "psychosomatic disorders" EXACT [] synonym: "somatoform disorders" EXACT [] xref: EFO:0009687 xref: ICD10CM:F45 xref: ICD9CM:300.8 xref: MESH:D013001 xref: NCI:C34956 is_a: DOID:150 ! disease of mental health is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:4739 name: testicular Brenner tumor def: "A testicular cancer that has_material_basis_in the surface epithelium of the testis and is characterized by the presence of cysts lined by transitional cells and solid nests of transitional cells in a spindle cell stroma. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C39953 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5245059/ "DO"] xref: NCI:C39953 is_a: DOID:2998 ! testicular cancer is_a: DOID:9003150 ! Brenner Tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:474 name: histiocytoid hemangioma synonym: "angiolymphoid hyperplasia with eosinophilia" EXACT [] synonym: "epithelioid haemangioma" EXACT [] synonym: "epithelioid hemangioma" EXACT [] synonym: "histiocytoid hemangiomas" EXACT [] xref: NCI:C4298 is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4743 name: mixed testicular germ cell tumor def: "A mixed germ cell cancer that is located_in the testis. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor "DO"] synonym: "mixed germ cell tumor of testis" EXACT [] synonym: "mixed germ cell tumour of testis" EXACT [] synonym: "mixed testicular germ cell tumour" EXACT [] xref: EFO:0010831 xref: NCI:C6347 is_a: DOID:5556 ! testicular malignant germ cell cancer [Term] id: DOID:4744 name: placenta accreta def: "A placenta disease that is characterized by an abnormally deep attachment of the placenta, through the endometrium and into the myometrium. (DO)" [http://en.wikipedia.org/wiki/Placenta_accreta "DO"] synonym: "placenta increta" EXACT [] synonym: "placenta percreta" EXACT [] xref: EFO:0007440 xref: ICD10CM:O43.21 xref: MESH:D010921 xref: NCI:C26856 is_a: DOID:780 ! placenta disease is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:4749 name: middle cranial fossa meningioma synonym: "meningioma of the middle cranial fossa" EXACT [] xref: NCI:C5586 xref: RDO:9004622 is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4751 name: striatonigral degeneration def: "A sporadic neurodegenerative disease with onset in middle-age characterized clinically by Parkinsonian features (e.g., MUSCLE RIGIDITY; HYPOKINESIA; stooped posture) and HYPOTENSION. This condition is considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Pathologic features include a prominent loss of neurons in the zona compacta of the SUBSTANTIA NIGRA and PUTAMEN. (From Adams et al., Principles of Neurology, 6th ed, p1075-6)" [MESH:D020955] synonym: "bilateral striatal necrosis with dystonia" NARROW [] synonym: "striatonigral atrophies" EXACT [] synonym: "striatonigral atrophy" EXACT [] synonym: "striatonigral degenerations" EXACT [] xref: ICD10CM:G23.2 xref: MESH:D020955 xref: MIM:PS271930 xref: NCI:C125695 is_a: DOID:4752 ! multiple system atrophy [Term] id: DOID:4752 name: multiple system atrophy def: "A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)" [MESH:D019578] synonym: "multiple system atrophies" EXACT [] synonym: "MULTIPLE SYSTEM ATROPHY, CEREBELLAR TYPE" NARROW [] synonym: "multiple system atrophy syndrome" EXACT [] synonym: "multisystem atrophies" EXACT [] synonym: "multisystem atrophy" EXACT [] synonym: "multisystemic atrophies" EXACT [] synonym: "multisystemic atrophy" EXACT [] xref: EFO:0002505 xref: EFO:1001050 xref: GARD:7079 xref: MESH:D019578 xref: NCI:C84909 xref: NCI:C85066 is_a: DOID:0050890 ! synucleinopathy is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:225 ! syndrome is_a: DOID:480 ! movement disease is_a: DOID:679 ! basal ganglia disease is_a: DOID:9003171 ! Primary Dysautonomias [Term] id: DOID:4756 name: testicular Leydig cell tumor alt_id: DOID:6021 synonym: "testicular Leydig cell neoplasm" EXACT [] xref: EFO:1000569 xref: NCI:C39942 xref: NCI:C6356 is_a: DOID:2696 ! Leydig cell tumor is_a: DOID:4757 ! testicular sex cord-stromal neoplasm created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4757 name: testicular sex cord-stromal neoplasm def: "A sex cord-gonadal stromal tumor that is located_in the testis. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C39948 "DO"] synonym: "sex cord-stromal tumor of testis" EXACT [] xref: NCI:C39948 is_a: DOID:192 ! sex cord-gonadal stromal tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:476 name: breast hemangioma def: "A breast benign neoplasm that is characterized by a collection of excess blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22434703 "DO"] synonym: "Angioma of the breast" EXACT [NCI2004_11_17:C5353] synonym: "hemangioma of breast" EXACT [] xref: NCI:C5353 xref: RDO:9004245 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4762 name: vasculogenic impotence def: "An impotence that is characterized by an inability to achieve and maintain an erection due to defects in the arterial blood flow to the penis or a defect in venous occlusive function allowing blood drainage from the erectile tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33227246/ "DO"] synonym: "arteriogenic impotence" EXACT [] synonym: "Penile Venous Leakage" EXACT [] synonym: "venogenic impotence" EXACT [] xref: EFO:1001234 xref: MESH:D018783 is_a: DOID:1875 ! impotence [Term] id: DOID:4765 name: pulmonary blastoma def: "A lung cancer that has_material_basis_in tissues of the lung and has_material_basis_in pleural tissues. It is most commonly effects children. (DO)" [http://www.cancer.gov/dictionary/?CdrID=446557 "DO"] synonym: "blastoma of lung" EXACT [] synonym: "EFO:0007458" EXACT [] synonym: "pulmonary blastomas" EXACT [] xref: EFO:0007458 xref: ICDO:8972/3 xref: MESH:D018202 xref: NCI:C3732 is_a: DOID:0070003 ! blastoma is_a: DOID:1324 ! lung cancer is_a: DOID:1532 ! pleural disease is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:4766 name: embryoma def: "A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. (DO)" [http://en.wikipedia.org/wiki/Embryoma "DO"] xref: EFO:0005785 xref: NCI:C8997 xref: RDO:9003437 is_a: DOID:4236 ! carcinosarcoma is_a: DOID:688 ! embryonal cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4767 name: classic pulmonary blastoma synonym: "biphasic pulmonary blastoma" EXACT [] xref: NCI:C36054 is_a: DOID:4765 ! pulmonary blastoma [Term] id: DOID:4768 name: epithelial predominant pulmonary blastoma xref: NCI:C36053 is_a: DOID:4765 ! pulmonary blastoma [Term] id: DOID:4769 name: pleuropulmonary blastoma def: "A pulmonary blastoma that derives_from the lung or pleural cavity. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30480950 "DO"] synonym: "DICER1-RELATED PLEUROPULMONARY BLASTOMA CANCER PREDISPOSITION SYNDROME" EXACT [] synonym: "PPB" EXACT [] synonym: "PPB familial tumor and dysplasia syndrome" EXACT [] synonym: "PPBFTDS" EXACT [] xref: EFO:0009052 xref: GARD:8757 xref: ICDO:8973/3 xref: MESH:C537516 xref: NCI:C5669 xref: ORDO:64742 is_a: DOID:4765 ! pulmonary blastoma [Term] id: DOID:4773 name: congenital mesoblastic nephroma alt_id: DOID:4772 def: "A kidney cancer that is characterized by the presence of fibroblastic cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4588847/ "DO"] synonym: "congenital mesoblastic nephromas" EXACT [] xref: EFO:0007365 xref: GARD:1493 xref: MESH:D018201 xref: NCI:C6569 xref: ORDO:2665 is_a: DOID:0080015 ! physical disorder is_a: DOID:3675 ! childhood kidney cancer created_by: rgd creation_date: 2017-02-20T18:03:48Z [Term] id: DOID:4776 name: rapidly progressive glomerulonephritis xref: ICD10CM:N01 xref: NCI:C35264 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:4777 name: exudative glomerulonephritis xref: NCI:C35706 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4778 name: proliferative glomerulonephritis xref: NCI:C35281 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4779 name: focal embolic glomerulonephritis xref: NCI:C35707 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4780 name: anti-basement membrane glomerulonephritis def: "A Goodpasture syndrome that is characterized by damage to only kidney capillaries. (DO)" [https://unckidneycenter.org/kidneyhealthlibrary/glomerular-disease/anti-gbm-disease/ "DO"] synonym: "anti-GBM glomerulonephritis" EXACT [] synonym: "anti-GBM nephritis" EXACT [] synonym: "anti-glomerular basement membrane glomerulonephritis" EXACT [] xref: MESH:D019867 xref: NCI:C35798 is_a: DOID:2921 ! glomerulonephritis is_a: DOID:9808 ! Goodpasture syndrome [Term] id: DOID:4781 name: diffuse glomerulonephritis xref: NCI:C35799 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4782 name: subacute glomerulonephritis xref: NCI:C35801 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4783 name: mesangial proliferative glomerulonephritis def: "Inflammation of the renal glomeruli characterized histologically by proliferation of MESANGIAL CELLS and increase in the MESANGIAL EXTRACELLULAR MATRIX." [] synonym: "mesangioproliferative glomerulonephritis" EXACT [] xref: GARD:9580 xref: NCI:C35445 is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:4784 name: immune-complex glomerulonephritis xref: NCI:C35800 is_a: DOID:2921 ! glomerulonephritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4787 name: cerebellopontine angle primitive neuroectodermal tumor synonym: "cerebellopontine angle PNET" EXACT [] xref: NCI:C5436 is_a: DOID:3200 ! cerebellopontine angle tumor created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:4788 name: intracranial primitive neuroectodermal tumor synonym: "intracranial PNET" EXACT [] xref: NCI:C5817 is_a: DOID:0060103 ! central nervous system embryonal tumor created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:479 name: angiokeratoma def: "A vascular, horny neoplasm of the skin characterized by TELANGIECTASIS and secondary epithelial changes including acanthosis and hyperkeratosis." [MESH:D000794] synonym: "angiokeratoma of skin" EXACT [] synonym: "Angiokeratomas" EXACT [] synonym: "cutaneous angiokeratoma" EXACT [] synonym: "skin angiokeratoma" EXACT [] xref: ICDO:9141/0 xref: MESH:D000794 xref: NCI:C2874 xref: NCI:C4488 is_a: DOID:471 ! skin hemangioma is_a: DOID:9006948 ! Vascular Tissue Neoplasms [Term] id: DOID:4790 name: medulloepithelioma synonym: "central nervous system medulloepithelioma" EXACT [] synonym: "malignant diktyoma" EXACT [] synonym: "medulloepitheliomas" EXACT [] xref: ICDO:9501/3 xref: MONDO:0003144 xref: NCI:C4327 xref: NCI:C66808 is_a: DOID:0060103 ! central nervous system embryonal tumor created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4791 name: supratentorial primitive neuroectodermal tumor def: "A central nervous system embryonal tumor, not otherwise specified arising from the supratentorial region. (MONDO)" [] synonym: "supratentorial PNET" EXACT [] xref: GARD:7366 xref: MONDO:0003145 xref: NCI:C6968 is_a: DOID:1659 ! supratentorial cancer [Term] id: DOID:4795 name: GM2 Gangliosidosis, AB variant alt_id: MIM:272750 def: "A GM2 gangliosidosis that is characterized by normal hexosaminidase A (HEXA) and hexosaminidase B (HEXB) but the inability to form a functional GM2 activator complex. (DO)" [https://ghr.nlm.nih.gov/condition/gm2-gangliosidosis-ab-variant "DO"] synonym: "Activator Deficiency GM2 Gangliosidosis" EXACT [] synonym: "Activator Deficient Tay Sachs Disease" EXACT [] synonym: "Activator-Deficient Tay-Sachs Diseases" EXACT [] synonym: "Gangliosidosis GM2, Type AB" EXACT [] synonym: "GM2 Activator Deficiencies" EXACT [] synonym: "GM2 Activator Deficiency" EXACT [] synonym: "GM2 Activator Deficiency Disease" EXACT [] synonym: "GM2 gangliosidoses, AB variant" EXACT [] synonym: "GM2 Protein Activator Deficiency Disease" EXACT [] synonym: "Hexosaminidase Activator Deficiencies" EXACT [] synonym: "Hexosaminidase Activator Deficiency" EXACT [] synonym: "hexosaminidase activator protein deficiency disease" EXACT [] synonym: "Tay-Sachs disease AB variant" EXACT [] xref: MESH:D049290 xref: NCI:C133084 is_a: DOID:3320 ! Tay-Sachs disease [Term] id: DOID:4796 name: space motion sickness def: "Disorder characterized by nausea, vomiting, and dizziness, possibly in response to vestibular disorientation or fluid shifts associated with space flight. (From Webster's New World Dictionary)" [MESH:D018489] synonym: "Space Adaptation Syndrome" EXACT [] xref: EFO:1001188 xref: MESH:D018489 is_a: DOID:2951 ! motion sickness [Term] id: DOID:4797 name: SM-AHNMD synonym: "EFO:1000559" EXACT [] synonym: "systemic mastocytosis with associated clonal haematological non-mast cell lineage disease" EXACT [] synonym: "systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease" EXACT [] xref: EFO:1000559 xref: NCI:C9284 is_a: DOID:349 ! systemic mastocytosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4798 name: aggressive systemic mastocytosis synonym: "aggressive systemic mastocytoses" EXACT [] synonym: "ASM" EXACT [] synonym: "lymphadenopathic mastocytosis with eosinophilia" EXACT [] xref: ICD10CM:C96.21 xref: NCI:C9285 is_a: DOID:349 ! systemic mastocytosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:48 name: male reproductive system disease def: "A reproductive system disease that affects male reproductive organs. (DO)" [https://www.dmu.edu/medterms/male-reproductive-system/male-reproductive-system-diseases/ "DO"] synonym: "male genital disease" EXACT [] synonym: "male genital diseases" EXACT [] xref: EFO:0009555 xref: ICD10CM:N50.9 xref: ICD9CM:608.9 xref: MESH:D005832 is_a: DOID:15 ! reproductive system disease is_a: DOID:9008348 ! Male Urogenital Diseases [Term] id: DOID:480 name: movement disease def: "A brain disease that is characterized by a clinical syndrome of either hyperkinetic movement or hyperkinetic movement unrelated to weakness or spasticity. (DO)" [https://en.wikipedia.org/wiki/Movement_disorders "DO"] synonym: "Dyskinesia Syndrome" EXACT [] synonym: "dyskinesia syndromes" EXACT [] synonym: "Etat Marbre" EXACT [] synonym: "Movement Disorder" EXACT [] synonym: "Movement Disorders" EXACT [] synonym: "Movement Disorder Syndrome" EXACT [] synonym: "Movement Disorder Syndromes" EXACT [] synonym: "Oral Dyskinesia" NARROW [] synonym: "Oral Dyskinesias" NARROW [] synonym: "status marmoratus" EXACT [] xref: EFO:0004280 xref: MESH:D009069 xref: NCI:C116757 is_a: DOID:331 ! central nervous system disease is_a: DOID:936 ! brain disease [Term] id: DOID:4810 name: cerebrotendinous xanthomatosis def: "A xanthomatosis that is characterized by a deficiency in the production of the bile acid, chenodeoxycholic acid that has_material_basis_in autosomal recessive inheritance and results in cholestanol deposition in the brain and other tissues and with elevated levels of cholesterol in plasma. (DO)" [http://en.wikipedia.org/wiki/Cerebrotendineous_xanthomatosis "DO", http://www.ncbi.nlm.nih.gov/books/NBK1409/ "DO"] synonym: "cerebral cholesterinoses" EXACT [] synonym: "cerebral cholesterinosis" EXACT [] synonym: "cerebrotendinous xanthomatoses" EXACT [] synonym: "cholestanol storage disease" EXACT [] synonym: "CTX" EXACT [] synonym: "Van Bogaert Scherer Epstein disease" EXACT [] xref: GARD:5622 xref: MESH:D019294 xref: MIM:213700 xref: MONDO:0008948 xref: NCI:C84628 xref: ORDO:909 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:3345 ! xanthomatosis [Term] id: DOID:4812 name: adult brainstem gliosarcoma synonym: "adult brain stem gliosarcoma" EXACT [] xref: NCI:C9370 is_a: DOID:4813 ! adult brain stem glioma [Term] id: DOID:4813 name: adult brain stem glioma def: "A brain stem cancer that is characterized by mass lesion of the brainstem in adulthood, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells and derives_from glial cells. (DO)" [https://en.wikipedia.org/wiki/Brainstem_glioma "DO"] synonym: "adult Brainstem Neuroglial tumor" EXACT [] xref: NCI:C9091 is_a: DOID:4202 ! brain stem glioma [Term] id: DOID:4817 name: ganglioneuroma def: "An autonomic nervous system benign neoplasm that is characterized by the presence of mature ganglion cells and a mature Schwannian stroma and arises from the sympathetic trunk in the mediastinum. (DO)" [https://medlineplus.gov/ency/article/001437.htm "DO"] synonym: "EFO:0000500" EXACT [] synonym: "Gangliocytoma" EXACT [] synonym: "Gangliocytomas" EXACT [] synonym: "Ganglioneuromas" EXACT [] xref: EFO:0000500 xref: ICDO:9490/0 xref: MESH:D005729 xref: NCI:C3049 xref: NCI:C42065 is_a: DOID:0080321 ! autonomic nervous system benign neoplasm [Term] id: DOID:482 name: hemangioma of peripheral nerve xref: MONDO:0003154 xref: NCI:C27507 is_a: DOID:0080320 ! peripheral nervous system benign neoplasm is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4829 name: adenosquamous lung carcinoma def: "An adenosquamous carcinoma located_in lung that derives_from lung tissue composed of at least 10% by volume each of squamous cell carcinoma (SqCC) and adenocarcinoma (AdC) cells. (DO)" [https://en.wikipedia.org/wiki/Adenosquamous_lung_carcinoma "DO"] synonym: "EFO:0000233" EXACT [] xref: EFO:0000233 xref: NCI:C9133 is_a: DOID:1324 ! lung cancer is_a: DOID:4830 ! adenosquamous carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:483 name: cavernous hemangioma def: "A vascular anomaly that is a collection of tortuous BLOOD VESSELS and connective tissue. This tumor-like mass with the large vascular space is filled with blood and usually appears as a strawberry-like lesion in the subcutaneous areas of the face, extremities, or other regions of the body including the central nervous system." [MESH:D006392] synonym: "cavernoma" EXACT [] synonym: "Cavernous Angioma" EXACT [] synonym: "cavernous haemangioma" EXACT [] synonym: "Cavernous Hemangiomas" EXACT [] synonym: "EFO:1000151" EXACT [] synonym: "Skin Cavernous Hemangioma" NARROW [] synonym: "Strawberry Hemangioma" EXACT [] synonym: "Strawberry Hemangiomas" EXACT [] xref: EFO:1000151 xref: EFO:1000530 xref: ICD10CM:D18.0 xref: ICDO:9121/0 xref: MESH:D006392 xref: NCI:C3086 is_a: DOID:255 ! hemangioma is_a: DOID:484 ! vascular hemostatic disease [Term] id: DOID:4830 name: adenosquamous carcinoma def: "A squamous cell carcinoma that contains squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC476239/ "DO"] synonym: "adenosquamous carcinomas" EXACT [] synonym: "adenosquamous cell carcinoma" EXACT [] synonym: "EFO:1000073" EXACT [] synonym: "mixed adenocarcinoma and squamous carcinoma" EXACT [] xref: EFO:1000073 xref: ICDO:8560/3 xref: MESH:D018196 xref: NCI:C3727 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:299 ! adenocarcinoma is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:4837 name: Gorham's disease alt_id: MIM:123880 def: "A syndrome that is characterized by bone loss (osteolysis) which is often associated with swelling or abnormal blood vessel growth (angiomatous proliferation). Bone loss can occur in just one bone or spread to soft tissue and adjacent bones. (DO)" [http://en.wikipedia.org/wiki/Gorham%27s_disease "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Gorham%27s%20Disease "DO"] synonym: "diffuse cystic angiomatosis of bone" EXACT [] synonym: "Disappearing Bone Disease" EXACT [] synonym: "essential osteolyses" EXACT [] synonym: "essential osteolysis" EXACT [] synonym: "Gorham Disease" EXACT [] synonym: "Gorham-Stout Disease" EXACT [] synonym: "Gorham-Stout Syndrome" RELATED [] synonym: "GSD" EXACT [] synonym: "Idiopathic Multicentric Osteolyses" EXACT [] synonym: "Idiopathic Multicentric Osteolysis" EXACT [] synonym: "Massive Osteolyses" EXACT [] synonym: "massive osteolysis" EXACT [] synonym: "phantom bone disease" EXACT [] xref: GARD:6542 xref: MESH:D010015 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:4838 name: myoepithelial carcinoma def: "A carcinoma that derives_from myoepithelial cells. (DO)" [http://www.diagnosticpathology.org/content/3/1/7 "DO"] xref: GARD:10558 xref: ICDO:8982/3 xref: NCI:C7596 is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4839 name: sebaceous adenocarcinoma def: "A malignant tumor composed of cells showing differentiation toward sebaceous epithelium. The tumor is solitary, firm, somewhat raised, more or less translucent, and covered with normal or slightly verrucose epidermis. It may be yellow or orange. The face and scalp are the commonest sites. The growth can be slow or rapid but metastasis is uncommon. Surgery cures most of the cases. (From Rook et al., Textbook of Dermatology, 4th ed, pp2403-4)" [MESH:D018266] synonym: "adenocarcinoma of the sebaceous gland" EXACT [] synonym: "EFO:1001171" EXACT [] synonym: "sebaceous adenocarcinomas" EXACT [] xref: EFO:1001171 xref: MESH:D018266 xref: NCI:C40310 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4840 ! sebaceous carcinoma is_a: DOID:9008418 ! Adnexal and Skin Appendage Neoplasms [Term] id: DOID:484 name: vascular hemostatic disease def: "Pathological processes involving the integrity of blood circulation. Hemostasis depends on the integrity of BLOOD VESSELS, blood fluidity, and BLOOD COAGULATION. Majority of the hemostatic disorders are caused by disruption of the normal interaction between the VASCULAR ENDOTHELIUM, the plasma proteins (including BLOOD COAGULATION FACTORS), and PLATELETS." [MESH:D020141] synonym: "Hemostatic Disorder" EXACT [] synonym: "Hemostatic Disorders" EXACT [] synonym: "Vascular Hemostatic Disorder" EXACT [] synonym: "Vascular Hemostatic Disorders" EXACT [] xref: MESH:D020141 xref: RDO:0005300 is_a: DOID:178 ! vascular disease is_a: DOID:2213 ! hemorrhagic disease [Term] id: DOID:4840 name: sebaceous carcinoma def: "A skin cancer that arises from the sebaceous glands. (DO)" [https://www.mayoclinic.org/diseases-conditions/sebaceous-carcinoma/cdc-20352957 "DO"] synonym: "EFO:1001171" EXACT [] synonym: "malignant neoplasm of sebaceous gland" EXACT [] synonym: "Malignant Sebaceous Neoplasm" EXACT [] synonym: "malignant sebaceous tumor" EXACT [] synonym: "Ocular Sebaceous Carcinoma" NARROW [] xref: EFO:1000405 xref: EFO:1001171 xref: ICD10CM:C44 xref: ICDO:8410/3 xref: NCI:C8409 is_a: DOID:305 ! carcinoma is_a: DOID:4159 ! skin cancer is_a: DOID:5759 ! sebaceous gland neoplasm created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4843 name: subependymal glioma def: "Rare, slow-growing, benign intraventricular tumors, often asymptomatic and discovered incidentally. The tumors are classified histologically as ependymomas and demonstrate a proliferation of subependymal fibrillary astrocytes among the ependymal tumor cells. (From Clin Neurol Neurosurg 1997 Feb;99(1):17-22)" [MESH:D018315] synonym: "Adult Subependymal Astrocytoma" EXACT [] synonym: "adult subependymal astrocytomas" EXACT [] synonym: "EFO:1000553" EXACT [] synonym: "mixed subependymoma-ependymoma" EXACT [] synonym: "Subependymal Astrocytoma" EXACT [] synonym: "Subependymal Astrocytomas" EXACT [] synonym: "Subependymal Gliomas" EXACT [] synonym: "Subependymal Glioses" EXACT [] synonym: "Subependymal Gliosis" EXACT [] synonym: "Subependymoma" EXACT [] synonym: "Subependymomas" EXACT [] synonym: "WHO grade I ependymal tumor" EXACT [] xref: EFO:1000553 xref: EFO:1001197 xref: ICDO:9383/1 xref: MESH:D018315 xref: NCI:C3795 is_a: DOID:4844 ! benign ependymoma is_a: DOID:9005834 ! Ependymomas [Term] id: DOID:4844 name: benign ependymoma synonym: "EFO:1000028" EXACT [] synonym: "epithelial ependymoma" EXACT [] synonym: "WHO grade II ependymal tumor" EXACT [] xref: EFO:1000028 xref: NCI:C3017 is_a: DOID:0080829 ! low grade glioma is_a: DOID:9005834 ! Ependymomas created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4845 name: pilomyxoid astrocytoma def: "A pilocytic astrocytoma that is characterized by a monomorphic architectural pattern, usually associated with the absence of Rosenthal fibers and eosinophilic granular bodies. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30945015/ "DO", https://radiopaedia.org/articles/pilomyxoid-astrocytoma?lang=us "DO"] xref: ICDO:9425/3 xref: NCI:C40315 is_a: DOID:4851 ! pilocytic astrocytoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4846 name: cauda equina intradural extramedullary astrocytoma synonym: "intradural extramedullary astrocytic tumor of the cauda equina" EXACT [] xref: NCI:C5408 is_a: DOID:4847 ! cauda equina neoplasm created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4847 name: cauda equina neoplasm synonym: "tumor of the cauda equina" EXACT [] xref: NCI:C5479 is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4848 name: cerebellar astrocytoma synonym: "astrocytoma of cerebellum" EXACT [] xref: NCI:C9475 is_a: DOID:3069 ! malignant astrocytoma is_a: DOID:4205 ! cerebellum cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4851 name: pilocytic astrocytoma def: "A childhood low-grade glioma that is characterized by cells that look like fibers when viewed under a microscope and is located_in the brain. (DO)" [http://en.wikipedia.org/wiki/Pilocytic_astrocytoma "DO", http://www.cancer.gov/dictionary?CdrID=44341 "DO"] synonym: "grade I astrocytic tumor" EXACT [] synonym: "pilocytic astrocytoma, somatic" RELATED [] synonym: "piloid astrocytoma" EXACT [] xref: GARD:9808 xref: NCI:C4047 xref: ORDO:251612 is_a: DOID:0080830 ! childhood low-grade glioma is_a: DOID:3069 ! malignant astrocytoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4852 name: pleomorphic xanthoastrocytoma def: "A low grade glioma that is characterized by pleomorphic and lipidized cells expressing GFAP often surrounded by a reticulin network and eosinophilic granular bodies. (DO)" [https://www.cancer.gov/rare-brain-spine-tumor/tumors/pleomorphic-xanthroastrocytoma "DO"] synonym: "Pleomorphic Xantho-astrocytoma" EXACT [] synonym: "PXA" EXACT [] xref: ICDO:9424/3 xref: NCI:C4323 is_a: DOID:0080829 ! low grade glioma created_by: rgd creation_date: 2016-12-02T00:00:00Z [Term] id: DOID:4853 name: pilocytic astrocytoma of cerebellum synonym: "cerebellar pilocytic astrocytoma" EXACT [] xref: NCI:C6809 is_a: DOID:4848 ! cerebellar astrocytoma is_a: DOID:4851 ! pilocytic astrocytoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4855 name: diencephalic astrocytoma synonym: "astrocytoma of diencephalon" EXACT [] synonym: "diencephalic astrocytomas" EXACT [] xref: NCI:C5128 is_a: DOID:0060108 ! brain glioma is_a: DOID:3069 ! malignant astrocytoma is_a: DOID:3843 ! diencephalic neoplasm created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4856 name: gliofibroma xref: ICDO:9442/1 xref: NCI:C5419 is_a: DOID:3069 ! malignant astrocytoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4857 name: diffuse astrocytoma def: "A low grade glioma that is characterized by diffuse infiltration of neighboring central nervous system structures. (DO)" [https://braintumorcenter.ucsf.edu/condition/diffuse-astrocytoma-grade-ii "DO"] synonym: "diffuse astrocytoma, low grade" EXACT [] synonym: "WHO grade II astrocytoma" EXACT [] xref: NCI:C7173 is_a: DOID:0080829 ! low grade glioma created_by: mtutaj creation_date: 2021-01-28T22:56:11Z [Term] id: DOID:4858 name: pineal gland astrocytoma synonym: "pineal astrocytic tumor" EXACT [] xref: NCI:C8274 is_a: DOID:3069 ! malignant astrocytoma is_a: DOID:5032 ! pineal gland cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:486 name: glomeruloid hemangioma xref: NCI:C27505 is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4860 name: brain stem astrocytic neoplasm def: "A brain stem glioma that is characterized by mass lesion of the brainstem, associated cranial nerve nuclei and long tracts, has_material_basis_in abnormally proliferating cells derives_from astrocytes. (DO)" [https://en.wikipedia.org/wiki/Astrocytoma "DO"] synonym: "brainstem astrocytoma" EXACT [] xref: NCI:C7445 is_a: DOID:3069 ! malignant astrocytoma is_a: DOID:4202 ! brain stem glioma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4863 name: spinal cord astrocytoma synonym: "astrocytoma of spinal cord" EXACT [SNOMEDCT_2005_07_31:254948003] synonym: "EFO:1000544" EXACT [] synonym: "Spinal astrocytoma" EXACT [NCI2004_11_17:C4641] xref: EFO:1000544 xref: NCI:C4641 xref: RDO:9003310 is_a: DOID:3069 ! malignant astrocytoma is_a: DOID:3185 ! spinal cord glioma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:4866 name: salivary gland adenoid cystic carcinoma def: "A salivary gland carcinoma that is characterized by a distinctive pattern in which abnormal nests or cords of epithelial cells surround and/or infiltrate ducts or glandular structures within the affected organ. These structures are typically filled with a mucous-like material or contain abnormal fibrous membranes. (DO)" [https://oralcancerfoundation.org/facts/rare/adenoid-cystic-carcinoma/ "DO"] synonym: "adenoid cystic cancer" EXACT [] xref: NCI:C2970 xref: NCI:C8026 is_a: DOID:0050904 ! salivary gland carcinoma is_a: DOID:0080202 ! adenoid cystic carcinoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:4867 name: cervical adenoid cystic carcinoma def: "A cervix carcinoma that is characterized by its resemblance to adenoid cystic carcinoma of the salivary glands. It shows pseudoglandular, cribriform-like and tubular patterns containing basement membrane-like material. Cytologically, the nuclei are angulated and hyperchromatic, without prominent nucleoli. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26090035 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28348909 "DO"] synonym: "adenoid cystic carcinoma of the cervix uteri" EXACT [] synonym: "EFO:1000161" EXACT [] xref: EFO:1000161 xref: NCI:C6346 is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:4868 name: prostate adenoid cystic carcinoma synonym: "adenoid cystic carcinoma of prostate" EXACT [] synonym: "adenoid cystic carcinoma of the prostate" EXACT [] xref: NCI:C5539 xref: RDO:9001827 is_a: DOID:0080202 ! adenoid cystic carcinoma is_a: DOID:10286 ! prostate carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:4869 name: laryngeal adenoid cystic carcinoma synonym: "adenoid cystic carcinoma of larynx" EXACT [] synonym: "EFO:1000319" EXACT [] xref: EFO:1000319 xref: NCI:C9462 xref: RDO:9003916 is_a: DOID:0080202 ! adenoid cystic carcinoma is_a: DOID:2600 ! laryngeal carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:4870 name: lacrimal gland adenoid cystic carcinoma synonym: "adenoid cystic carcinoma of lacrimal gland" RELATED [] synonym: "EFO:1000317" EXACT [] xref: EFO:1000317 xref: NCI:C4540 is_a: DOID:298 ! lacrimal gland adenocarcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:4871 name: cutaneous adenocystic carcinoma synonym: "adenoid cystic carcinoma of the skin" RELATED [] synonym: "adenoid cystic eccrine carcinoma" EXACT [] synonym: "adenoid cystic eccrine carcinoma (morphologic abnormality)" RELATED [] synonym: "adenoid cystic eccrine carcinoma of skin" RELATED [] xref: NCI:C4471 is_a: DOID:3451 ! skin carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4872 name: lung adenoid cystic carcinoma synonym: "adenoid cystic carcinoma of lung" EXACT [] synonym: "pulmonary adenoid cystic carcinoma" EXACT [] xref: NCI:C5666 xref: RDO:9001996 is_a: DOID:3905 ! lung carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:4873 name: anterior horn cell disease def: "A motor neuron disease that is characterized by lower motor neuron signs of wasting, weakness, and loss of reflexes and that is located in the anterior horn of the spinal cord that contains the motor neurons responsible for body muscles. (DO)" [https://academic.oup.com/book/25268/chapter-abstract/189870421?redirectedFrom=fulltext "DO", https://aimdrjournal.com/wp-content/uploads/2021/08/PE6_CR_PM.pdf "DO", https://www.neurores.org/index.php/neurores/article/view/407/409 "DO"] xref: ICD9CM:335 is_a: DOID:231 ! motor neuron disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:4875 name: trachea adenoid cystic carcinoma synonym: "adenoid cystic carcinoma of trachea" RELATED [] synonym: "EFO:1000598" EXACT [] synonym: "Tracheal adenoid cystic carcinoma" EXACT [NCI2004_11_17:C6051] xref: EFO:1000598 xref: NCI:C6051 xref: RDO:9002269 is_a: DOID:4876 ! trachea carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4876 name: trachea carcinoma def: "A tracheal cancer that effects the airway that leads from the larynx to the bronchi. (DO)" [http://nci.nih.gov/dictionary/?CdrID=46623 "DO"] synonym: "carcinoma of the trachea" EXACT [] synonym: "EFO:1000599" EXACT [] synonym: "Pancoast's tumor" EXACT [] xref: EFO:1000599 is_a: DOID:11920 ! tracheal cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4877 name: breast adenoid cystic carcinoma def: "A breast carcinoma that is characterized by the presence of a dual cell population of luminal and basaloid cells arranged in specific growth patterns. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4266822/ "DO"] synonym: "adenoid cystic breast carcinoma" EXACT [] synonym: "adenoid cystic carcinoma of breast" EXACT [] synonym: "EFO:1000071" EXACT [] synonym: "mammary adenocystic carcinoma" EXACT [] xref: EFO:1000071 xref: NCI:C5130 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:4878 name: esophageal adenoid cystic carcinoma def: "An esophageal carcinoma that derives_from epithelial cells of the salivary gland. (DO)" [http://en.wikipedia.org/wiki/Adenoid_cystic_carcinoma "DO"] synonym: "adenoid cystic carcinoma, esophagus" EXACT [NCI2004_11_17:C5342] xref: NCI:C5342 xref: RDO:9002301 is_a: DOID:1107 ! esophageal carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:4879 name: Bartholin's gland adenoid cystic carcinoma def: "A Bartholin's gland carcinoma that is characterized by a distinctive pattern in which abnormal nests and columns of cells of bland appearance are arranged concentrically around glandlike spaces filled with eosinophilic periodic acid-Schiff-positive diastase-resistant material. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17488169 "DO"] synonym: "Bartholin gland adenoid cystic carcinoma" EXACT [] xref: NCI:C40295 is_a: DOID:3999 ! Bartholin's gland carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:4880 name: kidney clear cell sarcoma def: "A kidney sarcoma that has_material_basis_in clear cells that are characterized as cells that look clear when viewed under a microscope. (DO)" [http://en.wikipedia.org/wiki/Clear-cell_sarcoma_of_the_kidney "DO", http://www.cancer.gov/dictionary?CdrID=44997 "DO"] synonym: "childhood kidney clear cell sarcoma" EXACT [] synonym: "clear cell sarcoma of kidney" EXACT [] synonym: "clear cell sarcoma of the kidney" EXACT [] synonym: "EFO:0000350" EXACT [] synonym: "pediatric renal clear cell sarcoma" EXACT [] synonym: "renal clear cell sarcoma" EXACT [] xref: EFO:0000350 xref: NCI:C4264 xref: ORDO:457246 is_a: DOID:4233 ! clear cell sarcoma is_a: DOID:4242 ! kidney sarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:4885 name: Colorado tick fever def: "A viral infectious disease that results_in infection, has_material_basis_in Colorado tick fever virus, which is transmitted_by rocky mountain wood tick, Dermacentor andersoni. The infection has_symptom fever for 2-3 days, followed by an afebrile period of similar duration and then another 2-3 days of fever, has_symptom headache, has_symptom myalgia, and has_symptom fatigue. (DO)" [https://www.cdc.gov/coloradotickfever/index.html "DO"] synonym: "tick fever, American mountain" EXACT [] xref: EFO:0007213 xref: ICD10CM:A93.2 xref: MESH:D003121 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9006487 ! Reoviridae Infections [Term] id: DOID:4889 name: lymph node tuberculosis def: "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25131362/ "DO", https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"] synonym: "cervical tuberculous lymphadenitis" EXACT [] synonym: "lymph node tuberculoses" EXACT [] synonym: "Mycobacterial Cervical Lymphadenitis" EXACT [] synonym: "Scrofula" EXACT [] synonym: "scrofulas" EXACT [] synonym: "tuberculous adenitis" EXACT [] synonym: "tuberculous lymphadenitis" EXACT [] synonym: "tuberculous lymphadenopathy" EXACT [] xref: EFO:0007350 xref: ICD10CM:A18.2 xref: MESH:D014388 xref: NCI:C26896 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:9942 ! lymph node disease [Term] id: DOID:4890 name: juvenile myoclonic epilepsy alt_id: MIM:254770 def: "A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years. (DO)" [http://en.wikipedia.org/wiki/Juvenile_myoclonic_epilepsy "DO", http://www.epilepsy.com/epilepsy/epilepsy_juvenilemyoclonic "DO", http://www.ilae-epilepsy.org/Visitors/Documents/EngelClassificationRepo "DO"] synonym: "Adolescent Myoclonic Epilepsies" EXACT [] synonym: "Adolescent Myoclonic Epilepsy" EXACT [] synonym: "EJM" EXACT [] synonym: "EJM1" NARROW [] synonym: "impulsive petit mal" EXACT [] synonym: "Impulsive Petit Mal Epilepsy" EXACT [] synonym: "Janz Impulsive Petit Mal" EXACT [] synonym: "Janz Juvenile Myoclonic Epilepsy" EXACT [] synonym: "Janz Syndrome" EXACT [] synonym: "JANZ SYNDROME MYOCLONIC EPILEPSY, JUVENILE, SUSCEPTIBILITY TO, 1" NARROW [] synonym: "JME" EXACT [] synonym: "JME (Juvenile Myoclonic Epilepsy)" EXACT [] synonym: "Juvenile Myoclonic Epilepsies" EXACT [] synonym: "juvenile myoclonic epilepsy 1" NARROW [] synonym: "Juvenile Myoclonic Epilepsy of Janz" EXACT [] xref: GARD:6808 xref: MESH:D020190 xref: MIM:PS254770 xref: MONDO:0009696 xref: NCI:C84796 xref: ORDO:307 xref: ORDO:862 is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:4892 name: middle ear adenocarcinoma def: "A middle ear carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of middle ear" RELATED [] synonym: "adenocarcinoma of the middle ear" RELATED [] synonym: "Endolymphatic Sac Tumor" NARROW [] xref: EFO:1000230 xref: NCI:C6848 xref: RDO:9002274 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4893 ! middle ear carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4893 name: middle ear carcinoma def: "A middle ear cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "carcinoma of middle ear" EXACT [] synonym: "carcinoma of the middle ear" EXACT [] xref: NCI:C6089 is_a: DOID:305 ! carcinoma is_a: DOID:5099 ! middle ear cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4894 name: rete ovarii adenocarcinoma def: "An ovary adenocarcinoma that arises from the rete ovarii. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21139896 "DO"] xref: NCI:C40017 is_a: DOID:3713 ! ovary adenocarcinoma [Term] id: DOID:4895 name: rete ovarii benign neoplasm def: "A female reporoductive organ benign neoplasm that is located_in the rete ovarii. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2852648 "DO"] xref: NCI:C40016 is_a: DOID:0060112 ! ovarian benign neoplasm created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:4896 name: bile duct adenocarcinoma def: "A bile duct carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] xref: NCI:C27813 xref: RDO:9002500 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4897 ! bile duct carcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:4897 name: bile duct carcinoma def: "A bile duct cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_bile_duct_cancer_69.asp "DO"] synonym: "EFO:0005540" EXACT [] xref: EFO:0005540 xref: MONDO:0005496 xref: NCI:C27814 is_a: DOID:305 ! carcinoma is_a: DOID:4606 ! bile duct cancer [Term] id: DOID:490 name: hemangioma of lung synonym: "lung hemangioma" EXACT [] synonym: "pulmonary hemangioma" EXACT [] xref: MONDO:0003194 is_a: DOID:255 ! hemangioma is_a: DOID:3683 ! lung benign neoplasm created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:4901 name: peritoneal serous adenocarcinoma synonym: "primary peritoneal serous adenocarcinoma" EXACT [] xref: EFO:1000494 xref: NCI:C40023 is_a: DOID:1791 ! peritoneal carcinoma [Term] id: DOID:4902 name: appendix carcinoma def: "An appendix cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "Ca appendix" EXACT [SNOMEDCT_2005_07_31:154462002] synonym: "carcinoma of appendix" EXACT [NCI2004_11_17:C9330] xref: NCI:C9330 xref: RDO:9002277 is_a: DOID:11239 ! appendix cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:4903 name: granular cell carcinoma def: "A carcinoma that derives_from epithelial cells, with polygonal accumulation of secondary lysosomes in the cytoplasm. (DO)" [http://en.wikipedia.org/wiki/Granular_cell_tumor "DO"] synonym: "granular cell adenocarcinoma" EXACT [NCI2004_11_17:C3681] synonym: "granular cell adenocarcinomas" EXACT [] synonym: "granular cell carcinomas" EXACT [] xref: ICDO:8320/3 xref: NCI:C3681 xref: RDO:9002533 is_a: DOID:2411 ! granular cell tumor is_a: DOID:299 ! adenocarcinoma is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:4905 name: pancreatic carcinoma def: "A pancreas cancer that derives_from epithelial cells located_in the exocrine pancreas. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO", http://www.cancer.gov/cancertopics/types/pancreatic "DO"] synonym: "CARCINOMA OF HEAD OF PANCREAS" NARROW [] synonym: "carcinoma of pancreas" EXACT [] synonym: "EFO:0002618" EXACT [] synonym: "exocrine cancer" RELATED [] synonym: "exocrine pancreas carcinoma" EXACT [] synonym: "familial pancreatic carcinoma" NARROW [] synonym: "pancreatic acinar carcinoma" EXACT [] synonym: "Pancreatic Large Cell Neuroendocrine Carcinoma" NARROW [] xref: EFO:0002618 xref: EFO:1000442 xref: NCI:C134944 xref: NCI:C3850 is_a: DOID:1795 ! malignant exocrine pancreas neoplasm is_a: DOID:305 ! carcinoma [Term] id: DOID:4906 name: small intestine adenocarcinoma def: "A small intestine carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of small Intestine" RELATED [] synonym: "EFO:1000532" EXACT [] synonym: "small intestinal adenocarcinoma" EXACT [] xref: EFO:1000532 xref: GARD:13090 xref: NCI:C7888 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4907 ! small intestine carcinoma created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:4907 name: small intestine carcinoma def: "A small intestine cancer that develops from epithelial cells and is located_in the small intestine. (DO)" [http://en.wikipedia.org/wiki/Small_intestine_cancer "DO"] synonym: "cancer of the small bowel" RELATED [] synonym: "EFO:0005588" EXACT [] synonym: "small bowel cancer" RELATED [] synonym: "small intestinal carcinoma" EXACT [] xref: EFO:0005588 xref: NCI:C7724 is_a: DOID:10154 ! small intestine cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:4908 name: anal carcinoma def: "A anus cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is located_in the anus. (DO)" [http://en.wikipedia.org/wiki/Anal_cancer "DO"] synonym: "Ca anus" EXACT [] synonym: "carcinoma of anus" EXACT [] xref: NCI:C9291 is_a: DOID:14110 ! anus cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:4910 name: urethra adenocarcinoma def: "An urethra cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of the urethra" EXACT [] xref: NCI:C6167 is_a: DOID:299 ! adenocarcinoma is_a: DOID:734 ! urethra cancer created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:4914 name: esophagus adenocarcinoma def: "An esophageal carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of esophagus" EXACT [] synonym: "EFO:0000478" EXACT [] synonym: "esophageal adenocarcinoma" EXACT [] synonym: "oesophageal adenocarcinoma" EXACT [] xref: EFO:0000478 xref: MESH:C562730 xref: NCI:C4025 is_a: DOID:1107 ! esophageal carcinoma is_a: DOID:299 ! adenocarcinoma is_a: DOID:9000117 ! Esophageal Neoplasms [Term] id: DOID:4915 name: basophilic adenocarcinoma synonym: "basophil adenocarcinoma" EXACT [NCI2004_11_17:C27392] synonym: "basophil carcinoma" EXACT [SNOMEDCT_2005_07_31:47107000] synonym: "basophilic carcinoma" EXACT [] xref: NCI:C4150 xref: RDO:9002536 is_a: DOID:2531 ! hematologic cancer is_a: DOID:299 ! adenocarcinoma is_a: DOID:4916 ! pituitary carcinoma is_a: DOID:9500 ! leukocyte disease created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:4916 name: pituitary carcinoma synonym: "carcinoma of the pituitary gland" EXACT [] synonym: "pituitary carcinomas" EXACT [] xref: ICDO:8272/3 xref: NCI:C4536 is_a: DOID:1785 ! pituitary cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4917 name: villous adenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue, with villous architecture. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15489649 "DO"] xref: ICDO:8262/3 xref: NCI:C4142 is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:4918 name: renal pelvis adenocarcinoma def: "A renal pelvis carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of renal pelvis" RELATED [] synonym: "adenocarcinoma of the kidney Pelvis" RELATED [] xref: NCI:C6143 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4919 ! renal pelvis carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:4919 name: renal pelvis carcinoma synonym: "carcinoma of kidney Pelvis" EXACT [] synonym: "EFO:0005582" EXACT [] synonym: "malignant neoplasm of renal pelvis" EXACT [] synonym: "malignant renal Pelvis neoplasm" EXACT [] synonym: "malignant tumor of renal pelvis" EXACT [] synonym: "renal pelvis cancer" EXACT [] xref: EFO:0005582 xref: ICD10CM:C65 xref: ICD9CM:189.1 xref: NCI:C6142 xref: NCI:C7525 xref: RDO:9001914 is_a: DOID:4451 ! renal carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:492 name: acquired hemangioma xref: NCI:C27018 is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4920 name: eccrine adenocarcinoma def: "An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] xref: ICDO:8413/3 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4921 ! eccrine sweat gland cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4921 name: eccrine sweat gland cancer synonym: "EFO:0005553" EXACT [] synonym: "malignant eccrine skin neoplasm" EXACT [] synonym: "malignant eccrine tumor" EXACT [] xref: EFO:0005553 xref: NCI:C5559 is_a: DOID:173 ! eccrine sweat gland neoplasm is_a: DOID:2095 ! sweat gland cancer [Term] id: DOID:4922 name: breast secretory carcinoma def: "A breast adenocarcinoma that has_material_basis_in cells with abundant granular or clear vacuolated cytoplasm. (DO)" [http://surgpathcriteria.stanford.edu/breast/secretcabr/printable.html "DO"] synonym: "juvenile breast carcinoma" EXACT [] synonym: "juvenile carcinoma of the breast" EXACT [] synonym: "juvenile secretory carcinoma of breast" EXACT [] xref: MESH:C537535 xref: NCI:C4189 is_a: DOID:305 ! carcinoma is_a: DOID:3458 ! breast adenocarcinoma [Term] id: DOID:4923 name: thymus adenocarcinoma def: "A thymic carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of the thymus" EXACT [] xref: NCI:C6459 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3284 ! thymic carcinoma created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:4926 name: bronchiolo-alveolar adenocarcinoma def: "A lung adenocarcinoma characterized by a predominantly lepidic pattern and 5 mm or less invasion in greatest dimension. (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma_in_situ_of_the_lung "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C2923 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15562552 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9498957 "DO"] synonym: "alveolar adenocarcinoma" EXACT [] synonym: "alveolar adenocarcinomas" EXACT [] synonym: "Alveolar Carcinoma" EXACT [] synonym: "Alveolar Carcinomas" EXACT [] synonym: "Alveolar Cell Carcinoma" EXACT [] synonym: "bronchioalveolar carcinoma" EXACT [] synonym: "bronchioalveolar lung carcinoma" EXACT [] synonym: "Bronchiolar Carcinoma" EXACT [] synonym: "Bronchiolar Carcinomas" EXACT [] synonym: "Bronchiolo-Alveolar Adenocarcinomas" EXACT [] synonym: "Bronchiolo-Alveolar Carcinoma" EXACT [] synonym: "Bronchioloalveolar Carcinoma" EXACT [] synonym: "bronchiolo-alveolar carcinomas" EXACT [] synonym: "bronchioloalveolar carcinomas" EXACT [] synonym: "EFO:0000308" EXACT [] synonym: "minimally invasive lung adenocarcinoma" EXACT [] xref: EFO:0000308 xref: EFO:1001941 xref: MESH:D002282 xref: NCI:C2923 is_a: DOID:3910 ! lung adenocarcinoma [Term] id: DOID:4927 name: Klatskin's tumor alt_id: DOID:5246 def: "An intrahepatic cholangiocarcinoma arising near or at the confluence of the right and left hepatic ducts. (DO)" [https://meshb.nlm.nih.gov/record/ui?ui=D018285 "DO"] synonym: "EFO:1001959" EXACT [] synonym: "hilar cholangiocarcinoma" EXACT [] synonym: "hilar cholangiocarcinomas" EXACT [] synonym: "hilar cholangiocellular carcinoma" EXACT [] synonym: "Klatskin's tumour" EXACT [] synonym: "Klatskins tumor" EXACT [] synonym: "Klatskin tumor" EXACT [] synonym: "Klatskin tumour" EXACT [] synonym: "perihilar cholangiocarcinoma" EXACT [] synonym: "perihilar extrahepatic bile duct carcinoma" EXACT [] xref: EFO:1001005 xref: EFO:1001959 xref: GARD:10175 xref: MESH:D018285 xref: NCI:C36077 xref: ORDO:99978 is_a: DOID:4928 ! intrahepatic cholangiocarcinoma [Term] id: DOID:4928 name: intrahepatic cholangiocarcinoma def: "A cholangiocarcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. (DO)" [https://www.dana-farber.org/intrahepatic-cholangiocarcinoma/ "DO"] synonym: "EFO:1001961" EXACT [] synonym: "intrahepatic bile duct carcinoma" EXACT [] synonym: "peripheral cholangiocarcinoma" EXACT [] xref: EFO:1001961 xref: GARD:6042 xref: MONDO:0003210 xref: NCI:C35417 is_a: DOID:4947 ! cholangiocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:4929 name: tubular adenocarcinoma def: "An adenocarcinoma that derives_from epithelial cells originating in glandular tissue. The tumor has branched angular tubules embedded in a loose fibrous stroma. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK553180/ "DO"] synonym: "EFO:0006500" EXACT [] synonym: "tubular adenocarcinomas" EXACT [] synonym: "tubular carcinoma" EXACT [] synonym: "tubular carcinomas" EXACT [] xref: EFO:0006500 xref: ICDO:8211/3 xref: NCI:C65192 is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:4930 name: nasal cavity adenocarcinoma def: "A nasal cavity carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of nasal cavity" EXACT [] synonym: "adenocarcinoma of the nasal cavity" EXACT [] xref: NCI:C6015 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4931 ! nasal cavity carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:4931 name: nasal cavity carcinoma def: "A nasal cavity cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "cancer of nasal cavity" RELATED [] synonym: "carcinoma of nasal cavity" RELATED [] xref: NCI:C9336 is_a: DOID:10811 ! nasal cavity cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-26T00:00:00Z [Term] id: DOID:4932 name: ampulla of Vater carcinoma def: "An ampulla of Vater cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] synonym: "ampullary carcinoma" EXACT [] synonym: "ampulloma" EXACT [] synonym: "carcinoma of ampulla of Vater" EXACT [] synonym: "carcinoma of the ampulla of Vater" EXACT [] synonym: "EFO:1000079" EXACT [] xref: EFO:1000079 xref: NCI:C3908 xref: ORDO:300557 is_a: DOID:10020 ! ampulla of Vater cancer is_a: DOID:4608 ! common bile duct neoplasm is_a: DOID:4897 ! bile duct carcinoma is_a: DOID:4907 ! small intestine carcinoma created_by: slaulederkind creation_date: 2010-03-19T00:00:00Z [Term] id: DOID:4933 name: apocrine carcinoma def: "An apocrine sweat gland cancer that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "apocrine adenocarcinoma" EXACT [] synonym: "apocrine gland carcinoma" EXACT [] synonym: "carcinoma of the apocrine gland" EXACT [] xref: GARD:12138 xref: ICDO:8401/3 xref: NCI:C4169 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4934 ! apocrine sweat gland cancer is_a: DOID:5667 ! sweat gland carcinoma [Term] id: DOID:4934 name: apocrine sweat gland cancer synonym: "malignant apocrine tumor" EXACT [] xref: NCI:C6800 is_a: DOID:2095 ! sweat gland cancer is_a: DOID:5876 ! apocrine sweat gland neoplasm created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:4938 name: ureter adenocarcinoma def: "An ureter carcinoma that derives_from epithelial cells of glandular origin. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of ureter" EXACT [] synonym: "ureteral adenocarcinoma" EXACT [] xref: NCI:C6155 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4939 ! ureter carcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:4939 name: ureter carcinoma def: "An ureter cancer that is located_in the ureter. (DO)" [http://www.mayoclinic.org/ureter-cancer/ "DO"] synonym: "EFO:1000609" EXACT [] synonym: "ureteral carcinoma" EXACT [] xref: EFO:1000609 xref: NCI:C8993 is_a: DOID:11819 ! ureter cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:4943 name: adenocarcinoma in situ def: "An in situ carcinoma that derives_from epithelial cells of glandular origin. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/adenocarcinoma-in-situ "DO"] synonym: "Intraepithelial Adenocarcinoma" EXACT [] synonym: "intraepithelial adenocarcinomas" EXACT [] synonym: "Preinvasive Adenocarcinoma" EXACT [] synonym: "preinvasive adenocarcinomas" EXACT [] xref: ICDO:8140/2 xref: MESH:D065311 xref: NCI:C4123 is_a: DOID:299 ! adenocarcinoma is_a: DOID:8719 ! in situ carcinoma is_a: DOID:9002760 ! Morphological and Microscopic Findings [Term] id: DOID:4944 name: gastroesophageal junction adenocarcinoma synonym: "adenocarcinoma of cardioesophageal junction" EXACT [] synonym: "adenocarcinoma of gastroesophageal junction" EXACT [] xref: NCI:C9296 xref: RDO:9002540 is_a: DOID:0080375 ! gastroesophageal adenocarcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:4947 name: cholangiocarcinoma def: "A bile duct adenocarcinoma that has_material_basis_in bile duct epithelial cells. (DO)" [http://cancergenome.nih.gov/cancersselected/Cholangiocarcinoma "DO", http://en.wikipedia.org/wiki/Cholangiocarcinoma "DO", http://www.cancer.gov/dictionary?CdrID=335064 "DO"] synonym: "adult primary cholangiocarcinoma" EXACT [] synonym: "adult primary cholangiocellular carcinoma" EXACT [] synonym: "cholangiocarcinomas" EXACT [] synonym: "Cholangiocellular Carcinoma" EXACT [] synonym: "cholangiocellular carcinomas" EXACT [] synonym: "cholangiosarcoma" EXACT [] synonym: "EFO:0005221" EXACT [] xref: EFO:0005221 xref: ICD10CM:C22.1 xref: ICDO:8160/3 xref: MESH:D018281 xref: NCI:C38739 xref: NCI:C4436 xref: NCI:C60372 xref: NCI:C8265 is_a: DOID:4896 ! bile duct adenocarcinoma [Term] id: DOID:4948 name: gallbladder carcinoma def: "A gallbladder cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [https://www.mayoclinic.org/diseases-conditions/gallbladder-cancer/symptoms-causes/syc-20353370 "DO"] synonym: "cancer of the gallbladder" EXACT [] synonym: "carcinoma of gallbladder" EXACT [] synonym: "EFO:1001956" EXACT [] xref: EFO:1001956 xref: NCI:C3844 is_a: DOID:305 ! carcinoma is_a: DOID:3121 ! gallbladder cancer [Term] id: DOID:495 name: sclerosing hemangioma synonym: "EFO:1000337" EXACT [] synonym: "sclerosing haemangioma" EXACT [] xref: EFO:1000337 is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:4952 name: postpoliomyelitis syndrome def: "A poliomyelitis that results in atrophy located in muscle, many years after the initial infection, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3. It is characterized by new weakening in muscles that were previously affected by the polio infection and in muscles that were unaffected. The infection has symptom muscle weakness, has symptom muscle pain, has symptom sleep apnea, and has symptom breathing problems. (DO)" [http://en.wikipedia.org/wiki/Postpolio_syndrome "DO", http://www.mayoclinic.com/health/post-polio-syndrome/DS00494/DSECTION=symptoms "DO"] synonym: "post-poliomyelitis muscular atrophies" EXACT [] synonym: "postpoliomyelitis muscular atrophies" EXACT [] synonym: "Postpoliomyelitis Muscular Atrophy" EXACT [] synonym: "post poliomyelitis muscular atrophy" EXACT [] synonym: "post poliomyelitis syndrome" EXACT [] synonym: "post-polio syndrome" EXACT [] synonym: "postpolio syndrome" EXACT [] synonym: "post-polio syndromes" EXACT [] xref: EFO:0007454 xref: GARD:4454 xref: ICD10CM:G14 xref: MESH:D016262 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:225 ! syndrome is_a: DOID:4953 ! poliomyelitis is_a: DOID:913 ! atrophic muscular disease [Term] id: DOID:4953 name: poliomyelitis def: "A viral infectious disease that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, has symptom muscle spasms, and has symptom acute flaccid paralysis. (DO)" [http://en.wikipedia.org/wiki/Poliomyelitis "DO", http://www.cdc.gov/vaccines/pubs/pinkbook/downloads/polio.pdf "DO", http://www.mayoclinic.com/health/polio/DS00572/DSECTION=symptoms "DO"] synonym: "acute poliomyelitis" EXACT [] synonym: "epidemic acute poliomyelitis" EXACT [] synonym: "infantile paralysis" EXACT [] synonym: "Nonpoliovirus Poliomyelitis" EXACT [] synonym: "polio" EXACT [] synonym: "polio encephalitis" EXACT [] synonym: "polios" EXACT [] synonym: "preparalytic poliomyelitides" EXACT [] synonym: "preparalytic poliomyelitis" EXACT [] xref: EFO:0007450 xref: GARD:7413 xref: ICD10CM:A80 xref: ICD9CM:045 xref: MESH:D011051 xref: NCI:C35550 is_a: DOID:231 ! motor neuron disease is_a: DOID:322 ! myelitis is_a: DOID:9006549 ! Enterovirus Infections [Term] id: DOID:4955 name: central nervous system melanocytic neoplasm def: "A central nervous system cancer that is characterized by melanocytic neoplasm that develops from melanocytes, has_material_basis_in abnormally proliferating cells derives_from neural crest cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4209706/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10403296 "DO"] synonym: "central nervous system primary melanocytic lesion" EXACT [] synonym: "melanocytic tumor of the CNS" EXACT [NCI2004_11_17:C5504] synonym: "primary melanocytic lesion of meninges" NARROW [SNOMEDCT_2005_07_31:277523004] synonym: "primary melanocytic Lesions of the CNS" EXACT [NCI2004_11_17:C4661] xref: NCI:C4661 xref: NCI:C5504 is_a: DOID:3620 ! central nervous system cancer [Term] id: DOID:4957 name: meninges hemangiopericytoma synonym: "hemangiopericytoma of meninges" EXACT [] synonym: "meningeal hemangiopericytoma" EXACT [] xref: NCI:C4660 is_a: DOID:264 ! hemangiopericytoma is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:4959 name: epidermolysis bullosa dystrophica alt_id: MIM:226600 alt_id: OMIA:000341 def: "An epidermolysis bullosa that is characterized by formation of recurrent blisters secondary to minor trauma in the skin and mucosa, especially in the hands, feet, knees, and elbows, and has_material_basis_in mutation in COL7A1 gene, which encodes a protein that assists assembly of type VII collagen. (DO)" [https://ghr.nlm.nih.gov/condition/dystrophic-epidermolysis-bullosa#genes "DO"] synonym: "Dystrophic Epidermolysis Bullosa" EXACT [] synonym: "dystrophic epidermolysis bullosa, autosomal recessive" EXACT [] synonym: "dystrophic epidermolysis bullosas" EXACT [] synonym: "EBR1" EXACT [] synonym: "Epidermolysis bullosa dystrophica, AR" EXACT [] synonym: "epidermolysis bullosa dystrophica, AR, epidermolysis bullosa dystrophica, AD" NARROW [] synonym: "Epidermolysis Bullosa Dystrophica, Autosomal Recessive" EXACT [] synonym: "EPIDERMOLYSIS BULLOSA DYSTROPHICA, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT" NARROW [] synonym: "Epidermolysis Bullosa Dystrophica, Hallopeau Siemens Type" EXACT [] synonym: "EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE" NARROW [] synonym: "epidermolysis bullosa dystrophica, recessive" EXACT [] synonym: "Hallopeau Siemens disease" EXACT [] synonym: "RDEB" EXACT [] xref: EFO:1000692 xref: GARD:2150 xref: MESH:D016108 xref: NCI:C84691 xref: ORDO:303 is_a: DOID:2730 ! epidermolysis bullosa is_a: DOID:854 ! collagen disease [Term] id: DOID:496 name: spindle cell hemangioma synonym: "SCH" EXACT [] xref: NCI:C4754 is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:4960 name: bone marrow cancer def: "A hematopoietic cancer that derives_from the blood-forming stem cells of the bone marrow. (DO)" [http://nci.nih.gov/dictionary/?CdrID=430857 "DO"] synonym: "malignant bone Marrow tumor" EXACT [NCI2004_11_17:C35501] synonym: "malignant neoplasm of bone marrow" EXACT [] xref: ICD10CM:D47.1 xref: RDO:9004799 is_a: DOID:2531 ! hematologic cancer is_a: DOID:9002641 ! Bone Marrow Neoplasms created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:4961 name: bone marrow disease def: "A hematopoietic system disease that is located_in the bone marrow. (DO)" [https://medlineplus.gov/bonemarrowdiseases.html "DO"] synonym: "bone marrow diseases" EXACT [] synonym: "bone marrow disorder" EXACT [] synonym: "bone marrow hypocellularity" RELATED [] xref: MESH:D001855 xref: NCI:C34433 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:4962 name: pericardial tuberculosis def: "An extrapulmonary tuberculosis that is located_in pericardium resulting in acute pericarditis, chronic pericardial effusion, cardiac tamponade or pericardial constriction. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23843490/ "DO", https://pubmed.ncbi.nlm.nih.gov/26699941/ "DO", https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"] synonym: "tuberculous pericarditides" EXACT [] synonym: "tuberculous pericarditis" EXACT [] xref: EFO:0007426 xref: ICD10CM:A18.84 xref: MESH:D010495 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:0060570 ! cardiac tuberculosis is_a: DOID:1787 ! pericarditis [Term] id: DOID:4964 name: neurotic disorder def: "An anxiety disorder that involves discress but neither delusions nor hallucinations. (DO)" [http://en.wikipedia.org/wiki/Neurosis "DO"] synonym: "neuroses" EXACT [] synonym: "neurosis" EXACT [] synonym: "neurotic depression" EXACT [] synonym: "neurotic depression reactive type" EXACT [] synonym: "neurotic depressions" EXACT [] synonym: "neurotic depressive state" EXACT [] synonym: "neurotic disorders" EXACT [] synonym: "psychoneuroses" EXACT [] synonym: "psychoneurosis" EXACT [] synonym: "reactive depression" EXACT [] xref: EFO:0004257 xref: ICD10CM:F34.1 xref: ICD10CM:F48.9 xref: MESH:D009497 xref: NCI:C34533 xref: NCI:C34848 xref: NCI:C35369 is_a: DOID:1596 ! depressive disorder is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:4968 name: Nelson syndrome def: "A syndrome characterized by HYPERPIGMENTATION, enlarging pituitary mass, visual defects secondary to compression of the OPTIC CHIASM, and elevated serum ACTH. It is caused by the expansion of an underlying ACTH-SECRETING PITUITARY ADENOMA that grows in the absence of feedback inhibition by adrenal CORTICOSTEROIDS, usually after ADRENALECTOMY." [MESH:D009347] synonym: "Nelson's syndrome" EXACT [] xref: GARD:7170 xref: ICD10CM:E24.1 xref: MESH:D009347 xref: NCI:C84917 is_a: DOID:225 ! syndrome is_a: DOID:3952 ! adrenal cortex disease is_a: DOID:7004 ! ACTH-secreting pituitary adenoma [Term] id: DOID:4969 name: Gerstmann syndrome def: "A nervous system disease that results_from damage located_in left parietal lobe, has_symptom agraphia, has_symptom acalculia, has_symptom finger agnosia. (DO)" [http://en.wikipedia.org/wiki/Gerstmann_syndrome "DO", http://www.ninds.nih.gov/disorders/gerstmanns/gerstmanns.htm "DO"] synonym: "Acquired Gerstmann's Syndrome" EXACT [] synonym: "Acquired Gerstmann Syndrome" EXACT [] synonym: "aphasia-angular gyrus syndrome" EXACT [] synonym: "Developmental Gerstmann's Syndrome" EXACT [] synonym: "Developmental Gerstmanns Syndrome" EXACT [] synonym: "Developmental Gerstmann Syndrome" EXACT [] synonym: "Finger-Agnosia-Left-Right-Confusion-Acalculia-Agraphia" EXACT [] synonym: "finger-agnosia-left-right-confusion-acalculia-agraphias" EXACT [] synonym: "Gerstmann's Syndrome" EXACT [] synonym: "Gerstmann Badal Syndrome" EXACT [] synonym: "Gerstmann Syndrome 2" EXACT [] synonym: "syndrome de Gerstmann" EXACT [] xref: EFO:0007285 xref: GARD:8660 xref: MESH:D005862 xref: ORDO:221117 is_a: DOID:225 ! syndrome is_a: DOID:4090 ! agnosia is_a: DOID:863 ! nervous system disease [Term] id: DOID:4970 name: prosopagnosia def: "An agnosia that results in the loss of the ability to consciously recognize familiar faces. (DO)" [http://en.wikipedia.org/wiki/Agnosia "DO"] synonym: "Acquired Prosopagnosia" EXACT [] synonym: "acquired prosopagnosias" EXACT [] synonym: "Agnosia for Face" EXACT [] synonym: "Agnosia for Faces" EXACT [] synonym: "Developmental Prosopagnosia" EXACT [] synonym: "Developmental Prosopagnosias" EXACT [] synonym: "facial recognition agnosia" EXACT [] synonym: "facial recognition agnosias" EXACT [] synonym: "prosopagnosias" EXACT [] xref: ICD10CM:R48.3 xref: MESH:D020238 xref: NCI:C85031 is_a: DOID:4090 ! agnosia [Term] id: DOID:4971 name: myelofibrosis alt_id: MIM:254450 def: "A myeloid neoplasm that is located in the bone marrow which results in bone marrow being replaced by fibrous (scar) tissue. (DO)" [http://en.wikipedia.org/wiki/Myelofibrosis "DO"] synonym: "Agnogenic Myeloid Metaplasia" EXACT [] synonym: "agnogenic myeloid metaplasias" EXACT [] synonym: "aleukemic myelosis" EXACT [] synonym: "bone marrow fibroses" EXACT [] synonym: "Bone Marrow Fibrosis" EXACT [] synonym: "Chronic Idiopathic Myelofibrosis" EXACT [] synonym: "CIMF" EXACT [] synonym: "EFO:0002430" EXACT [] synonym: "Idiopathic Myelofibrosis" EXACT [] synonym: "megakaryocytic myelosclerosis" EXACT [] synonym: "MMM" NARROW [] synonym: "Myelofibroses" EXACT [] synonym: "MYELOFIBROSIS, SOMATIC" EXACT [] synonym: "MYELOFIBROSIS WITH MYELOID METAPLASIA" NARROW [] synonym: "Myeloid Metaplasia" EXACT [] synonym: "Myeloid Metaplasias" EXACT [] synonym: "Myeloscleroses" EXACT [] synonym: "Myelosclerosis" EXACT [] synonym: "Nonleukemic Myeloses" EXACT [] synonym: "nonleukemic myelosis" EXACT [] synonym: "prefibrotic primary myelofibrosis" NARROW [] synonym: "primary myelofibroses" EXACT [] synonym: "primary myelofibrosis" EXACT [] xref: EFO:0002430 xref: GARD:8618 xref: ICD10CM:D47.4 xref: ICD10CM:D75.81 xref: ICD9CM:238.76 xref: ICD9CM:289.83 xref: MESH:D055728 xref: NCI:C2862 xref: NCI:C3248 xref: ORDO:824 is_a: DOID:0070004 ! myeloid neoplasm [Term] id: DOID:4972 name: myelodysplastic/myeloproliferative neoplasm def: "A myeloid neoplasm that results_in the overproduction of white blood cells. (DO)" [http://www.bloodjournal.org/content/114/5/937.long "DO", http://www.bloodjournal.org/content/127/20/2391 "DO", http://www.bloodjournal.org/content/128/3/462 "DO", https://www.cancer.gov/types/myeloproliferative/patient/mds-mpd-treatment-pdq "DO"] synonym: "EFO:1000388" EXACT [] synonym: "MDS/MPN" EXACT [] synonym: "myelodysplastic myeloproliferative cancer" EXACT [] synonym: "Myelodysplastic-Myeloproliferative Disease" EXACT [] synonym: "Myelodysplastic-Myeloproliferative Diseases" EXACT [] synonym: "myelodysplastic syndrome/myeloproliferative neoplasm" EXACT [] synonym: "myeloproliferative/myelodysplastic syndromes" EXACT [] synonym: "Myeloproliferative-Myelodisplastic Disease" EXACT [] synonym: "Myeloproliferative Myelodisplastic Diseases" EXACT [] xref: EFO:1000388 xref: MESH:D054437 xref: NCI:C27262 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:4961 ! bone marrow disease [Term] id: DOID:4974 name: actinobacillosis def: "A commensal bacterial infectious disease that results_in infection, has_material_basis_in Actinobacillus ureae, which is a commensal of the human respiratory tract. The pathogen causes meningitis, endocarditis, bacteremia, atrophic rhinitis, bronchitis, pneumonia, conjunctivitis, peritonitis, and otitis media. (DO)" [http://www.sciencedirect.com/science/article/pii/073646799500066J "DO", https://www.merckvetmanual.com/generalized-conditions/actinobacillosis/actinobacillosis "DO"] synonym: "Actinobacilloses" EXACT [] xref: EFO:0007127 xref: MESH:D000187 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:1579 ! respiratory system disease is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9007041 ! Actinobacillus Infections [Term] id: DOID:4976 name: elephantiasis def: "Hypertrophy and thickening of tissues from causes other than filarial infection, the latter being described as ELEPHANTIASIS, FILARIAL." [MESH:D004604] synonym: "Bigfoot Disease" EXACT [] synonym: "bigfoot diseases" EXACT [] synonym: "elephantiases" EXACT [] synonym: "Elephantiasis Nostras Verrucosa" EXACT [] synonym: "endemic elephantiases" EXACT [] synonym: "Endemic Elephantiasis" EXACT [] synonym: "Endemic Non-Filarial Elephantiases" EXACT [] synonym: "Endemic Non Filarial Elephantiasis" EXACT [] synonym: "Lymphostatic Verrucoses" EXACT [] synonym: "lymphostatic verrucosis" EXACT [] synonym: "microcrystal disease" EXACT [] synonym: "microcrystal diseases" EXACT [] xref: EFO:0004711 xref: MESH:D004604 xref: NCI:C34569 is_a: DOID:4977 ! lymphedema [Term] id: DOID:4977 name: lymphedema def: "Edema due to obstruction of lymph vessels or disorders of the lymph nodes." [MESH:D008209] synonym: "Early Onset Lymphedema" EXACT [] synonym: "early onset lymphedemas" EXACT [] synonym: "lymphatic edema" EXACT [] synonym: "Lymphedemas" EXACT [] synonym: "lymphoedema" EXACT [] synonym: "Nonne Milroy Disease" EXACT [] synonym: "Nonne Milroy lymphedema" EXACT [] synonym: "Nonne Milroy Meige disease" EXACT [] synonym: "primary lymphedema" EXACT [] xref: MESH:D008209 xref: NCI:C3207 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:4985 name: extraosseous Ewings sarcoma-primitive neuroepithelial tumor synonym: "EFO:1000250" EXACT [] synonym: "extraosseous Ewing's tumor" EXACT [] synonym: "extraosseous Ewing's tumour" EXACT [] synonym: "extraosseous Ewings sarcoma-primitive neuroepithelial tumour" EXACT [] synonym: "extraskeletal Ewing sarcoma/peripheral primitive neuroectodermal tumor" EXACT [] xref: EFO:1000250 xref: NCI:C7135 is_a: DOID:4232 ! extraosseous Ewing sarcoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4986 name: nonparalytic poliomyelitis def: "A poliomyelitis that results in destruction located in motor neurons, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom fever, has symptom sore throat, has symptom headache, has symptom vomiting, has symptom fatigue, has symptom neck stiffness, and has symptom muscle spasms. (DO)" [https://www.mayoclinic.org/diseases-conditions/polio/symptoms-causes/syc-20376512 "DO"] synonym: "acute nonparalytic poliomyelitis" EXACT [] synonym: "non-paralytic aseptic meningitis" EXACT [] xref: ICD10CM:A80.4 xref: ICD9CM:045.2 xref: RDO:9003483 is_a: DOID:231 ! motor neuron disease is_a: DOID:4953 ! poliomyelitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:4988 name: alcoholic pancreatitis def: "Acute or chronic INFLAMMATION of the PANCREAS due to excessive ALCOHOL DRINKING. Alcoholic pancreatitis usually presents as an acute episode but it is a chronic progressive disease in alcoholics." [MESH:D019512] xref: EFO:1002013 xref: MESH:D019512 is_a: DOID:4989 ! pancreatitis is_a: DOID:9004354 ! Alcohol-Related Disorders [Term] id: DOID:4989 name: pancreatitis def: "A pancreas disease that is characterized by inflammation of the pancreas. (DO)" [https://medlineplus.gov/pancreatitis.html "DO"] synonym: "aggressive insulitis" NARROW [] synonym: "benign insulitis" NARROW [] synonym: "non-alcoholic pancreatitis" NARROW [] synonym: "pancreatitides" EXACT [] synonym: "RECURRENT PANCREATITIS" NARROW [] synonym: "thiopurine immunosuppressant-induced pancreatitis" NARROW [] xref: EFO:0000278 xref: EFO:0002498 xref: EFO:0002502 xref: EFO:0006315 xref: EFO:0021524 xref: ICD10CM:K85.9 xref: MESH:D010195 xref: NCI:C3306 is_a: DOID:26 ! pancreas disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:4990 name: essential tremor def: "A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. (DO)" [http://en.wikipedia.org/wiki/Essential_tremor "DO", http://ghr.nlm.nih.gov/condition/essential-tremor "DO"] synonym: "benign essential tremor" EXACT [] synonym: "benign essential tremors" EXACT [] synonym: "essential tremors" EXACT [] synonym: "ESSENTIAL TREMOR, SUSCEPTIBILITY TO" RELATED [] synonym: "familial tremor" EXACT [] synonym: "familial tremors" EXACT [] synonym: "hereditary essential tremor" EXACT [] synonym: "shaky hand syndrome" EXACT [] xref: EFO:0003108 xref: GARD:5910 xref: ICD10CM:G25.0 xref: MESH:D020329 xref: MIM:PS190300 xref: NCI:C182453 is_a: DOID:9000495 ! Tremor [Term] id: DOID:4991 name: optic nerve astrocytoma synonym: "astrocytic tumor of optic nerve" EXACT [] synonym: "optic tract astrocytoma" EXACT [] xref: NCI:C6769 xref: NCI:C7533 is_a: DOID:3069 ! malignant astrocytoma is_a: DOID:4992 ! optic nerve glioma [Term] id: DOID:4992 name: optic nerve glioma def: "Glial cell derived tumors arising from the optic nerve, usually presenting in childhood." [MESH:D020339] synonym: "EFO:0009254" EXACT [] synonym: "glioma of the optic nerve" EXACT [] synonym: "Optic Glioma" EXACT [] synonym: "optic gliomas" EXACT [] synonym: "optic nerve gliomas" EXACT [] xref: EFO:0009254 xref: GARD:4107 xref: MESH:D020339 xref: NCI:C4537 is_a: DOID:0060108 ! brain glioma is_a: DOID:3419 ! optic nerve neoplasm [Term] id: DOID:4993 name: atypical polypoid adenomyoma def: "An adenomyoma that is a biphasic polypoid lesion consisting of a myofibroblastic stromal component and an endometrial intraepithelial neoplasm. (DO)" [http://www.pathologyoutlines.com/topic/uterusapa.html "DO"] xref: NCI:C6895 is_a: DOID:2609 ! adenomyoma [Term] id: DOID:4994 name: adenomyoma of uterine corpus def: "A uterine benign neoplasm that has_material_basis_in gland and muscle components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16990713 "DO"] synonym: "adenomyoma of corpus uteri" EXACT [] synonym: "uterine corpus adenomyoma" EXACT [] xref: MONDO:0003237 xref: NCI:C6338 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:2609 ! adenomyoma created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:4995 name: cervical adenomyoma def: "A cervical benign neoplasm that has_material_basis_in gland and muscle components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24582628 "DO"] xref: NCI:C40231 is_a: DOID:0060110 ! cervical benign neoplasm is_a: DOID:2609 ! adenomyoma [Term] id: DOID:4997 name: Camurati-Engelmann disease alt_id: MIM:131300 def: "An osteosclerosis that has_material_basis_in mutations in the TGFB1 gene which results_in increased bone density located_in long bone. (DO)" [http://en.wikipedia.org/wiki/Camurati-Engelmann_disease "DO", http://ghr.nlm.nih.gov/condition/camurati-engelmann-disease "DO", http://www.ncbi.nlm.nih.gov/books/NBK1156/ "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=1328 "DO", http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Camurati-Engelmann%20Disease "DO"] synonym: "CAEND" EXACT [] synonym: "Camurati-Engelmann syndrome" EXACT [] synonym: "CED" EXACT [] synonym: "diaphyseal dysplasia" EXACT [] synonym: "diaphyseal hyperostosis" EXACT [] synonym: "Engelman's disease" EXACT [] synonym: "Engelmann's disease" EXACT [] synonym: "Engelmann disease" EXACT [] synonym: "PDD" EXACT [] synonym: "progressive diaphyseal dysplasia" EXACT [] synonym: "progressive diaphyseal dysplasias" EXACT [] xref: GARD:1072 xref: ICD10CM:Q78.3 xref: MESH:D003966 xref: NCI:C84610 is_a: DOID:0050177 ! monogenic disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:4998 name: trichorhinophalangeal syndrome type II alt_id: MIM:150230 def: "A syndrome that has_material_basis_in mutation of the EXT1 and TRPS1 gene which results_in multiple exostosis along with short stature and cone-shaped ends located_in epiphysis. The disease has_symptom sparse scalp hair, has_symptom thin upper lip, has_symptom rounded nose. (DO)" [http://en.wikipedia.org/wiki/Langer-Giedion_syndrome "DO", http://ghr.nlm.nih.gov/condition/langer-giedion-syndrome "DO", http://www.healthline.com/galecontent/langer-giedion-syndrome "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=502 "DO", http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1074/viewAbstract "DO"] synonym: "acrodysplasia V" EXACT [] synonym: "chromosome 8q24.1 deletion syndrome" EXACT [] synonym: "Langer-Giedion syndrome" EXACT [] synonym: "LGS" EXACT [] synonym: "trichorhinophalangeal dysplasia type II" EXACT [] synonym: "trichorhinophalangeal syndrome type 2" EXACT [] synonym: "tricho rhino phalangeal syndrome type II" EXACT [] synonym: "trichorhinophalangeal syndrome with exostoses" EXACT [] synonym: "TRPS2" EXACT [] synonym: "TRPSII" EXACT [] xref: GARD:7801 xref: MESH:D015826 xref: NCI:C75118 xref: ORDO:502 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9005517 ! Trichorhinophalangeal Syndrome [Term] id: DOID:50 name: thyroid gland disease def: "An endocrine system disease that is located_in the thyroid. (DO)" [http://en.wikipedia.org/wiki/Thyroid "DO"] synonym: "ABNORMAL CIRCULATING THYROID HORMONE CONCENTRATION" RELATED [] synonym: "ABNORMAL THYROID HORMONE LEVEL" RELATED [] synonym: "Thyroid Disease" EXACT [] synonym: "Thyroid Diseases" EXACT [] xref: EFO:1000627 xref: ICD10CM:E07.9 xref: ICD9CM:246.9 xref: MESH:D013959 xref: MIM:PS609698 xref: MP:0005468 xref: NCI:C26893 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:5003 name: eunuchism def: "A hypogonadism that is characterized by the lack of mature male germ cells and testicular hormones. (DO)" [https://www.merriam-webster.com/dictionary/eunuch "DO", https://www.ncbi.nlm.nih.gov/mesh/?term=D005058 "DO"] synonym: "eunuchoidism" EXACT [] synonym: "male hypogonadism" EXACT [] xref: EFO:0007266 xref: MESH:D005058 is_a: DOID:1924 ! hypogonadism [Term] id: DOID:501 name: central nervous system hemangioma synonym: "hemangioma of CNS" EXACT [] xref: NCI:C7004 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5015 name: fibrolamellar carcinoma def: "A hepatocellular carcinoma characterized microscopically by laminated fibrous layers interspersed between the tumour cells. The polygonal, deeply eosinophilic tumor cells arise in non-cirrhotic livers. (DO)" [http://www.nejm.org/doi/full/10.1056/NEJMra1001683 "DO", https://en.wikipedia.org/wiki/Fibrolamellar_hepatocellular_carcinoma "DO"] synonym: "EFO:1000256" EXACT [] synonym: "Fibrolamellar Hepatocellular Carcinoma" EXACT [] synonym: "fibrolamellar variant of hepatocellular carcinoma" EXACT [] synonym: "hepatocellular carcinoma (fibrolamellar variant)" EXACT [] synonym: "oncocytic hepatocellular tumor" EXACT [] xref: EFO:1000256 xref: MESH:C537258 xref: NCI:C4131 xref: ORDO:401920 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:5016 name: hepatocellular clear cell carcinoma synonym: "clear cell carcinoma of the liver cells" EXACT [] synonym: "hepatocellular carcinoma, clear cell type" EXACT [] xref: ICDO:8174/3 xref: NCI:C5754 is_a: DOID:684 ! hepatocellular carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:502 name: central nervous system mesenchymal non-meningothelial tumor def: "A central nervous system cancer that is characterized by mesenchymal tumors within the CNS that develops from meninges, has_material_basis_in abnormally proliferating cells derives_from mesoderm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1669699 "DO", https://www.sciencedirect.com/science/article/pii/B978032344941000014X "DO"] synonym: "central nervous system mesenchymal non-meningothelial tumour" EXACT [] synonym: "non-meningothelial mesenchymal tumor" EXACT [] synonym: "non-meningothelial mesenchymal tumour" EXACT [] is_a: DOID:3620 ! central nervous system cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5022 name: aflatoxins-related hepatocellular carcinoma def: "A hepatocellular carcinoma that develops following exposure to aflatoxin." [NCI:C27922] xref: NCI:C27922 is_a: DOID:684 ! hepatocellular carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5026 name: sclerosing hepatic carcinoma synonym: "sclerosing hepatocellular carcinoma" EXACT [] xref: NCI:C27388 is_a: DOID:684 ! hepatocellular carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5030 name: pineal parenchymal tumor of intermediate differentiation synonym: "EFO:1000474" EXACT [] synonym: "pineal parenchymal tumour of intermediate differentiation" EXACT [] xref: EFO:1000474 xref: ICDO:9362/3 xref: NCI:C6967 is_a: DOID:0081248 ! pineocytoma is_a: DOID:1664 ! pineoblastoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5031 name: adult pineal parenchymal tumor synonym: "adult Pineal Parenchymal neoplasm" EXACT [NCI2004_11_17:C8273] xref: NCI:C8273 is_a: DOID:5032 ! pineal gland cancer [Term] id: DOID:5032 name: pineal gland cancer def: "An endocrine gland located_in the pineal gland located in the brain. (DO)" [http://en.wikipedia.org/wiki/Pineal_gland "DO"] synonym: "malignant pineal region tumor" EXACT [] synonym: "malignant tumor of pineal gland" EXACT [] synonym: "neoplasm of pineal gland" EXACT [] synonym: "neoplasm of the pineal region" EXACT [] synonym: "pineal body neoplasm" EXACT [] synonym: "pineocytic tumor" EXACT [] xref: ICD10CM:C75.3 xref: ICD9CM:194.4 xref: NCI:C3328 xref: NCI:C3573 xref: NCI:C6965 is_a: DOID:0081248 ! pineocytoma is_a: DOID:170 ! endocrine gland cancer [Term] id: DOID:5039 name: myoblastoma synonym: "benign granular cell tumor" EXACT [] synonym: "myoblastomas" EXACT [] xref: NCI:C3252 is_a: DOID:461 ! muscle benign neoplasm created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5040 name: malignant granular cell esophageal tumor synonym: "granular cell tumor of esophagus" EXACT [] synonym: "granular cell tumour of oesophagus" EXACT [] synonym: "malignant granular cell esophageal tumour" EXACT [] xref: NCI:C5700 xref: RDO:9002313 is_a: DOID:5041 ! esophageal cancer is_a: DOID:9008863 ! Malignant Granular Cell Tumor created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:5041 name: esophageal cancer def: "A gastrointestinal system cancer that is located_in the esophagus. (DO)" [http://cancergenome.nih.gov/cancersselected/stomach-esophagealcancer "DO", http://en.wikipedia.org/wiki/Esophagus "DO"] synonym: "Ca lower third oesophagus" NARROW [] synonym: "Ca middle third oesophagus" NARROW [] synonym: "ESOPHAGEAL CANCER, ALCOHOL-RELATED, SUSCEPTIBILITY TO" RELATED [] synonym: "esophagus cancer" EXACT [] synonym: "malignant neoplasm of distal third of esophagus" EXACT [] synonym: "malignant neoplasm of lower third of oesophagus" EXACT [] synonym: "malignant neoplasm of middle third of oesophagus" EXACT [] synonym: "malignant neoplasm of proximal third of esophagus" EXACT [] synonym: "malignant neoplasm of upper third esophagus" EXACT [] synonym: "malignant tumor of abdominal esophagus" EXACT [] synonym: "malignant tumor of distal third of esophagus" EXACT [] synonym: "malignant tumor of proximal third of esophagus" EXACT [] synonym: "malignant tumor of the middle third of the esophagus" EXACT [] xref: GARD:6383 xref: ICD10CM:C15.3 xref: ICD10CM:C15.4 xref: ICD10CM:C15.5 xref: ICD9CM:150.2 xref: ICD9CM:150.3 xref: ICD9CM:150.4 xref: ICD9CM:150.5 xref: ICD9CM:150.8 xref: NCI:C3028 xref: NCI:C3533 xref: NCI:C3534 xref: NCI:C3535 xref: NCI:C4764 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:9000117 ! Esophageal Neoplasms created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:5042 name: malignant granular cell myoblastoma synonym: "malignant granular cell neoplasm" EXACT [NCI2004_11_17:C4336] xref: NCI:C4336 xref: RDO:9003033 is_a: DOID:4159 ! skin cancer is_a: DOID:9008863 ! Malignant Granular Cell Tumor created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5043 name: vulvar granular cell tumor def: "A vulvar benign neoplasm of neural origin that is characterized by round to polyhedral cells with indistinct margins and granular cytoplasm due to the accumulation of lysosomes. They occur in ribbons or clumps separated by hyalinised stroma and collaged fibers with uniform, small and dark staining nuclei. (DO)" [https://en.wikipedia.org/wiki/Granular_cell_tumor "DO", https://www.ncbi.nlm.nih.gov/pubmed/24303488 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27510686 "DO"] xref: NCI:C40328 is_a: DOID:0060109 ! vulvar benign neoplasm [Term] id: DOID:5044 name: cardiac granular cell neoplasm synonym: "granular cell tumor of Heart" EXACT [NCI2004_11_17:C5360] xref: NCI:C5360 xref: RDO:9002670 is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:2411 ! granular cell tumor is_a: DOID:9006547 ! Heart Neoplasms created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:5046 name: mediastinal granular cell myoblastoma synonym: "granular cell tumor of mediastinum" EXACT [] xref: NCI:C6601 is_a: DOID:2411 ! granular cell tumor is_a: DOID:4159 ! skin cancer is_a: DOID:6175 ! mediastinal neurilemmoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5047 name: granular cell tumor of the sellar region def: "A posterior pituitary gland neoplasm that arises from the neurohypophysis or infundibulum. It is composed of nests of large cells with granular, eosinophilic cytoplasm due to abundant intracytoplasmic lysosomes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32926559/ "DO"] synonym: "EFO:1000285" EXACT [] synonym: "neurohypophysis granular cell tumor" EXACT [] xref: EFO:1000285 xref: NCI:C7017 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:170 ! endocrine gland cancer is_a: DOID:2411 ! granular cell tumor is_a: DOID:3488 ! cellulitis is_a: DOID:4159 ! skin cancer is_a: DOID:5048 ! posterior pituitary gland neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5048 name: posterior pituitary gland neoplasm def: "A pituitary gland benign neoplasm that arises from the neurohypophysis. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33709954/ "DO"] synonym: "posterior pituitary tumor" EXACT [] xref: NCI:C7157 is_a: DOID:3643 ! sella turcica neoplasm is_a: DOID:60009 ! pituitary gland benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:505 name: hobnail hemangioma xref: RDO:9004256 is_a: DOID:255 ! hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5050 name: Ehrlich tumor carcinoma def: "A transplantable, poorly differentiated malignant tumor which appeared originally as a spontaneous breast carcinoma in a mouse. It grows in both solid and ascitic forms." [MESH:D002286] synonym: "EFO:1000913" EXACT [] synonym: "Ehrlich's tumor" EXACT [] synonym: "Ehrlich's tumour" EXACT [] synonym: "Ehrlich Ascites Tumor" EXACT [] synonym: "Ehrlich tumour carcinoma" EXACT [] xref: EFO:1000913 xref: MESH:D002286 is_a: DOID:305 ! carcinoma is_a: DOID:3459 ! breast carcinoma is_a: DOID:9002170 ! Experimental Neoplasms [Term] id: DOID:5052 name: melioidosis alt_id: MIM:615557 def: "A primary bacterial infectious disease that results_in infection, has_material_basis_in Burkholderia pseudomallei, which is transmitted_by contact with the contaminated water or soil. The infection has_symptom fever, has_symptom respiratory distress, has_symptom chest pain, and has_symptom stomach pain. (DO)" [http://www.cdc.gov/melioidosis/symptoms/index.html "DO"] synonym: "acute and fulminating melioidosis" EXACT [] synonym: "melioidoses" EXACT [] synonym: "melioidosis, resistance to" RELATED [] synonym: "melioidosis, susceptibility to" RELATED [] synonym: "Nightcliff gardener's disease" EXACT [] synonym: "pseudoglanders" EXACT [] synonym: "subacute and chronic melioidosis" EXACT [] synonym: "Whitmore's disease" EXACT [] xref: GARD:9546 xref: ICD10CM:A24.9 xref: ICD9CM:025 xref: MESH:D008554 xref: NCI:C128336 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9000739 ! Burkholderia Infections [Term] id: DOID:5056 name: adult cerebellar neoplasm synonym: "tumor of adult Cerebellum" EXACT [NCI2004_11_17:C5968] xref: NCI:C5968 is_a: DOID:4205 ! cerebellum cancer [Term] id: DOID:5057 name: papillary meningioma of the cerebellum synonym: "papillary meningioma of cerebellum" EXACT [] xref: NCI:C5270 is_a: DOID:0060106 ! brain meningioma is_a: DOID:4205 ! cerebellum cancer is_a: DOID:5058 ! rhabdoid meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5058 name: rhabdoid meningioma synonym: "papillary meningioma" EXACT [] xref: EFO:1000449 xref: EFO:1000511 xref: NCI:C6909 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5059 name: childhood cerebellar neoplasm synonym: "pediatric tumor of cerebellum" EXACT [] xref: NCI:C5970 is_a: DOID:4205 ! cerebellum cancer [Term] id: DOID:5062 name: phencyclidine abuse def: "A substance abuse that involves the recurring use of phencyclidine (PCP) drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Phencyclidine "DO"] synonym: "Angel Dust Abuse" EXACT [] synonym: "PCP abuse" EXACT [] synonym: "phencyclidine abuses" EXACT [] synonym: "phencyclidine-related disorder" EXACT [] synonym: "phencyclidine-related disorders" EXACT [] synonym: "phencyclidine use disorder" EXACT [] xref: EFO:0007436 xref: MESH:D010623 is_a: DOID:302 ! substance abuse is_a: DOID:303 ! substance-related disorder [Term] id: DOID:5063 name: basosquamous carcinoma def: "A skin carcinoma that histologically exhibits both basal and squamous elements. (From Dorland, 27th ed)" [MESH:D002281] synonym: "Basisquamous cell carcinoma" EXACT [SNOMEDCT_2005_07_31:37304002] synonym: "Basosquamous Carcinomas" EXACT [] synonym: "basosquamous cell carcinoma" EXACT [CSP2005:2000-2932] synonym: "EFO:1000529" EXACT [] synonym: "Metatypical carcinoma" EXACT [SNOMEDCT_2005_07_31:6641007] xref: EFO:1000529 xref: ICDO:8094/3 xref: MESH:D002281 xref: NCI:C2922 xref: RDO:0005116 is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:305 ! carcinoma is_a: DOID:9003929 ! Basal Cell Neoplasms [Term] id: DOID:507 name: adjustment disorder def: "A disease of mental health that is an abnormal and excessive emotional and behavioral reaction to a life stress that develops within 3 months of a life stress, and which is stronger or greater than what would be expected for the type of event that occurred. (DO)" [http://en.wikipedia.org/wiki/Adjustment_disorder "DO", http://www.mayoclinic.org/diseases-conditions/adjustment-disorders/basics/definition/con-20031704 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000932.htm "DO"] synonym: "adjustment disease" EXACT [] synonym: "adjustment disorders" EXACT [] synonym: "adjustment reaction" EXACT [] synonym: "Anniversary Reaction" EXACT [] synonym: "anniversary reactions" EXACT [] synonym: "Reactive Depression" EXACT [] synonym: "Reactive Disorder" EXACT [] synonym: "Reactive Disorders" EXACT [] synonym: "transient situational disturbance" EXACT [] xref: ICD9CM:309 xref: MESH:D000275 is_a: DOID:9004763 ! Trauma and Stressor Related Disorders [Term] id: DOID:5074 name: high grade ependymoma def: "A high grade glioma that is derived from ependymal cells, a type of glial cell, located_in ventricle lining within the central part of the brain. (DO)" [http://www.cancer.org/Cancer/BrainCNSTumorsinAdults/DetailedGuide/brain-and-spinal-cord-tumors-in-adults-what-are-brain-spinal-tumors "DO"] synonym: "ependymal neoplasm" EXACT [] synonym: "ependymal tumors" EXACT [] synonym: "malignant ependymoma" EXACT [] xref: NCI:C6770 is_a: DOID:305 ! carcinoma is_a: DOID:3541 ! cerebral ventricle cancer is_a: DOID:9005834 ! Ependymomas created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:5075 name: myxopapillary ependymoma xref: GARD:10633 xref: ICDO:9394/1 xref: NCI:C3697 is_a: DOID:4844 ! benign ependymoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5076 name: mixed glioma synonym: "mixed gliomas" EXACT [] synonym: "mixed neuroglial tumor" EXACT [] xref: NCI:C3903 is_a: DOID:3070 ! high grade glioma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:5077 name: subependymal giant cell astrocytoma synonym: "SEGA" EXACT [] xref: GARD:10632 xref: ICDO:9384/1 xref: NCI:C3696 is_a: DOID:4843 ! subependymal glioma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:5078 name: ganglioglioma def: "A cell type benign neoplasm that has_material_basis_in glial-type cells. (DO)" [http://en.wikipedia.org/wiki/Ganglioglioma "DO", http://www.stjude.org/stjude/v/index.jsp?vgnextoid=7e0d061585f70110VgnVCM1000001e0215acRCRD "DO"] synonym: "adult ganglioglioma" EXACT [] synonym: "Benign Ganglioglioma" EXACT [] synonym: "benign gangliogliomas" EXACT [] synonym: "childhood ganglioglioma" EXACT [] synonym: "CNS ganglioglioma" EXACT [] synonym: "EFO:0003094" EXACT [] synonym: "gangliogliomas" EXACT [] synonym: "Intracranial Ganglioglioma" EXACT [] synonym: "Intracranial Gangliogliomas" EXACT [] synonym: "malignant ganglioglioma" EXACT [] synonym: "malignant gangliogliomas" EXACT [] xref: EFO:0003094 xref: GARD:2430 xref: ICDO:9505/1 xref: MESH:D018303 xref: NCI:C27362 xref: NCI:C27363 xref: NCI:C3788 xref: ORDO:251949 is_a: DOID:0080829 ! low grade glioma [Term] id: DOID:5082 name: liver cirrhosis def: "Liver disease in which the normal microcirculation, the gross vascular anatomy, and the hepatic architecture have been variably destroyed and altered with fibrous septa surrounding regenerated or regenerating parenchymal nodules." [MESH:D008103] synonym: "cirrhosis" EXACT [] synonym: "cirrhosis of liver" EXACT [] synonym: "hepatic cirrhoses" EXACT [] synonym: "Hepatic Cirrhosis" EXACT [] synonym: "Hepatic Fibrosis" EXACT [] synonym: "liver cirrhoses" EXACT [] synonym: "liver fibroses" EXACT [] synonym: "liver fibrosis" EXACT [] xref: EFO:0001422 xref: ICD10CM:K74.60 xref: MESH:D008103 xref: NCI:C2951 is_a: DOID:409 ! liver disease is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:5083 name: iodine hypothyroidism xref: EFO:0008614 xref: ICD9CM:244.2 is_a: DOID:1459 ! hypothyroidism created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5088 name: mixed epithelial stromal tumour xref: NCI:C37265 is_a: DOID:154 ! mixed cell type cancer [Term] id: DOID:5090 name: sternum cancer def: "A bone cancer and neoplasm of chest wall and sternal disorder that is located_in the sternum. (DO)" [http://www.cancer.gov/dictionary/?CdrID=482347 "DO"] synonym: "malignant sternal neoplasm" EXACT [] synonym: "malignant sternal tumor" EXACT [] synonym: "neoplasm of sternum" RELATED [] synonym: "sternal tumor" EXACT [] xref: NCI:C6730 xref: NCI:C8408 is_a: DOID:184 ! bone cancer is_a: DOID:5093 ! thoracic cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5093 name: thoracic cancer def: "An organ system cancer located_in the thoracic cavity that develops in the different types of cells within the lungs, as well as less common cancers of the esophagus, the trachea, or the chest wall. (DO)" [https://radonc.ucsf.edu/thoracic-cancers "DO"] synonym: "thorax cancer" EXACT [] xref: ICD10CM:C76.1 xref: ICD9CM:195.1 xref: NCI:C3406 xref: NCI:C3576 is_a: DOID:0050686 ! organ system cancer is_a: DOID:9007920 ! Thoracic Neoplasms created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5099 name: middle ear cancer def: "An ear cancer that is located_in the middle ear. (DO)" [http://my.clevelandclinic.org/services/head-neck/diseases-conditions/tumors "DO"] synonym: "neoplasm of middle ear" EXACT [] synonym: "tumor of the middle ear" EXACT [] xref: NCI:C4412 is_a: DOID:5100 ! middle ear disease is_a: DOID:5101 ! ear cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:5100 name: middle ear disease xref: NCI:C27065 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:5101 name: ear cancer synonym: "auricular cancer" EXACT [] synonym: "auricular cancers" EXACT [] synonym: "malignant ear neoplasm" EXACT [] synonym: "malignant tumor of ear" EXACT [] xref: NCI:C9337 is_a: DOID:833 ! auditory system cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5102 name: inner ear cancer def: "An ear cancer located_in the inner ear. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C39784&key=1800983797&b=1&n=null "DO"] xref: NCI:C39784 is_a: DOID:2952 ! inner ear disease is_a: DOID:5101 ! ear cancer created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:5104 name: testicular infarct synonym: "infarction of testis" EXACT [] synonym: "testicular infarction" EXACT [] xref: NCI:C27617 is_a: DOID:2519 ! testicular disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5112 name: copper deficiency myelopathy def: "A nutritional deficiency disease that is characterized by deficiency of copper, causing spastic gait and ataxia, often with anemia and neutropenia, has_symptom imbalance and jerking movements, and has_material_basis_in copper deficiency possibly due to malabsorption or excess zinc ingestion. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4612215/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17036563 "DO"] synonym: "Enzootic Ataxia" EXACT [] synonym: "Enzootic Ataxias" EXACT [] synonym: "human swayback" EXACT [] synonym: "swayback" EXACT [] synonym: "swayback of sheep" EXACT [] xref: MESH:D013540 is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:9006097 ! Sheep Diseases [Term] id: DOID:5113 name: nutritional deficiency disease def: "A nutrition disease that is characterized by deficiency of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. (DO)" [https://medlineplus.gov/malnutrition.html "DO"] synonym: "deficiency disease" EXACT [] synonym: "deficiency diseases" EXACT [] xref: EFO:1001067 xref: MESH:D003677 is_a: DOID:9005695 ! Malnutrition [Term] id: DOID:5117 name: dermoid cyst of ovary alt_id: MIM:166950 def: "A dermoid cyst that is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24056662 "DO"] synonym: "dermoid cyst" EXACT [] synonym: "ovarian dermoid cyst" EXACT [] synonym: "ovarian teratoma" EXACT [] xref: MESH:C562731 xref: NCI:C3856 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:2658 ! dermoid cyst [Term] id: DOID:5118 name: ovarian cystic teratoma def: "A cystic teratoma that is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22902841 "DO"] xref: NCI:C7283 is_a: DOID:2660 ! cystic teratoma is_a: DOID:6231 ! mature teratoma of the ovary created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5119 name: ovarian cyst def: "An ovarian disease that is characterized by the presence of a fluid-filled sac and is located_in the ovary. (DO)" [https://en.wikipedia.org/wiki/Ovarian_cyst "DO"] synonym: "ovarian cysts" EXACT [] xref: ICD10CM:N83.2 xref: ICD9CM:620.2 xref: MESH:D010048 is_a: DOID:1100 ! ovarian disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:512 name: epididymal neoplasm synonym: "neoplasm of epididymis" EXACT [] xref: NCI:C39958 is_a: DOID:2998 ! testicular cancer is_a: DOID:9004207 ! Testicular Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5123 name: mediastinum leiomyoma def: "A thoracic benign neoplasm that derives_from smooth muscle cells and is located_in the mediastinum. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2740108/ "DO"] synonym: "leiomyoma of mediastinum" EXACT [] xref: NCI:C6598 is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:9008299 ! Mediastinal Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5124 name: fallopian tube leiomyoma def: "A fallopian tube benign neoplasm that has_material_basis_in smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5137476/ "DO"] xref: NCI:C40127 is_a: DOID:0060111 ! fallopian tube benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5125 name: extrahepatic bile duct leiomyoma def: "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the extrahepatic bile duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11896229 "DO"] synonym: "leiomyoma of the extrahepatic bile duct" EXACT [NCI2004_11_17:C5855] xref: NCI:C5855 xref: RDO:9003385 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:9002936 ! Bile Duct Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5126 name: central nervous system leiomyoma def: "A central nervous system benign neoplasm that derives_from smooth muscle cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30725665/ "DO"] synonym: "leiomyoma of CNS" EXACT [] xref: NCI:C6998 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5127 name: bizarre leiomyoma def: "A leiomyoma that is characterized by large, atypical nuclei in otherwise normal appearing leiomyoma and rare or absent mitotic figures. (DO)" [http://www.pathologyoutlines.com/topic/softtissuebizarreleiomyoma.html "DO"] synonym: "Atypical leiomyoma" EXACT [] synonym: "Pleomorphic leiomyoma" EXACT [] synonym: "Symplastic leiomyoma" EXACT [] xref: ICDO:8893/0 xref: NCI:C4257 is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5128 name: deep leiomyoma def: "A leiomyoma that is located_in deep soft tissue. (DO)" [http://surgpathcriteria.stanford.edu/softsmoothmuscle/soft_tissue_leiomyoma/differentialdiagnosis.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/27186256 "DO"] xref: NCI:C6512 is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5129 name: simple partial epilepsy synonym: "simple partial epilepsies" EXACT [] synonym: "simple partial seizures" EXACT [] xref: ICD9CM:345.51 is_a: DOID:2234 ! focal epilepsy created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:5132 name: leiomyoma cutis synonym: "cutaneous leiomyoma" EXACT [] synonym: "leiomyoma of the skin" EXACT [] synonym: "MULTIPLE CUTANEOUS LEIOMYOMAS" NARROW [] xref: NCI:C4482 is_a: DOID:127 ! leiomyoma is_a: DOID:2438 ! dermis tumor created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5134 name: anus leiomyoma def: "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the anus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9187805 "DO"] synonym: "leiomyoma of anus" EXACT [] xref: NCI:C5608 is_a: DOID:127 ! leiomyoma is_a: DOID:5545 ! anal neuroendocrine tumor created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5136 name: lung leiomyoma def: "A lung benign neoplasm that derives_from some smooth muscle cell. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26941368 "DO"] synonym: "pulmonary leiomyoma" EXACT [] xref: NCI:C5660 is_a: DOID:127 ! leiomyoma is_a: DOID:3683 ! lung benign neoplasm created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:5137 name: pericardium leiomyoma def: "A cardiovascular organ benign neoplasm that derives_from smooth muscle cells and that is located_in the pericardium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4453980 "DO"] synonym: "leiomyoma of pericardium" EXACT [] xref: MONDO:0003294 xref: NCI:C6743 is_a: DOID:0050829 ! pericardium disease is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5138 name: leiomyomatosis def: "A leiomyoma that is multiple and diffuse. (DO)" [https://ghr.nlm.nih.gov/condition/hereditary-leiomyomatosis-and-renal-cell-cancer "DO"] synonym: "leiomyomatoses" EXACT [] xref: ICDO:8890/1 xref: MESH:D018231 xref: NCI:C3748 is_a: DOID:127 ! leiomyoma [Term] id: DOID:5139 name: cellular leiomyoma def: "A leiomyoma that is a morphological variant of leiomyoma and is characterized by increased cellularity, no atypia and no mitotic figures. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html "DO"] xref: ICDO:8892/0 xref: NCI:C4256 is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5140 name: gallbladder leiomyoma def: "A gastrointestinal system benign neoplasm that is located_in the gallbladder and derives_from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17059154 "DO"] synonym: "leiomyoma of the gallbladder" EXACT [] xref: NCI:C5747 is_a: DOID:0080640 ! gallbladder benign neoplasm is_a: DOID:127 ! leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5142 name: vulvar leiomyoma def: "A vulvar benign neoplasm that is located_in smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5080524/ "DO"] xref: NCI:C40326 is_a: DOID:0060109 ! vulvar benign neoplasm created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5143 name: large bowel leiomyoma def: "An intestinal benign neoplasm that derives_from smooth muscle cells and that is located_in the large bowel. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17201349 "DO"] synonym: "leiomyoma of large intestine" EXACT [] xref: NCI:C5677 xref: RDO:9003317 is_a: DOID:127 ! leiomyoma is_a: DOID:4610 ! intestinal benign neoplasm is_a: DOID:9008443 ! Colorectal Neoplasms created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:5146 name: appendix leiomyoma def: "A gastrointestinal system benign neoplasm that derives_from smooth muscle cells and that is located_in the appendix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7414395 "DO"] synonym: "appendiceal leiomyoma" EXACT [] xref: NCI:C5514 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:60000 ! appendix disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5147 name: dartoic leiomyoma def: "A reproductive organ benign neoplasm that has_material_basis_in the dartos muscle located_in the scrotum or labia majora. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4483 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27529047 "DO"] synonym: "dartoic myoma" EXACT [] xref: NCI:C4483 is_a: DOID:0050622 ! reproductive organ benign neoplasm created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:5149 name: epithelioid neurofibroma xref: NCI:C6558 is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5150 name: neurofibroma of gallbladder synonym: "neurofibroma of the gallbladder" EXACT [] xref: NCI:C5746 xref: RDO:9003124 is_a: DOID:3121 ! gallbladder cancer is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:5151 name: plexiform neurofibroma def: "A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)" [MESH:D018318] synonym: "Elephantiasis Neuromatoses" EXACT [] synonym: "Elephantiasis Neuromatosis" EXACT [] synonym: "Pachydermatocele" EXACT [] synonym: "Pachydermatoceles" EXACT [] synonym: "Plexiform Neurofibromas" EXACT [] synonym: "Plexiform Neuroma" EXACT [] synonym: "Plexiform Neuromas" EXACT [] synonym: "Tumor Royale" EXACT [] xref: EFO:0000658 xref: ICDO:9550/0 xref: MESH:D018318 xref: NCI:C3797 xref: RDO:0007179 is_a: DOID:962 ! neurofibroma [Term] id: DOID:5152 name: cellular neurofibroma xref: NCI:C41427 is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5153 name: atypical neurofibroma xref: NCI:C41426 is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5154 name: borna disease def: "A viral infectious disease that results_in infection, which affects dopaminergic neurotransmission located_in central nervous system, has_material_basis_in Borna disease virus, which is transmitted_by contact with infected oronasal secretions. The infection has_symptom mood disturbances, has_symptom behaviour disturbances, has_symptom cognitive disturbances, has_symptom neurologic disturbances, and has_symptom movement impairment. (DO)" [http://www.biomedcentral.com/1471-244X/10/70 "DO"] synonym: "enzootic encephalomyelitis" EXACT [] xref: EFO:0007178 xref: MESH:D001890 is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9007829 ! Mononegavirales Infections [Term] id: DOID:5155 name: multiple mucosal neuroma xref: NCI:C6559 xref: RDO:9004494 is_a: DOID:2001 ! neuroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5157 name: benign pleural mesothelioma synonym: "EFO:1000485" EXACT [] synonym: "mesothelioma of pleura" EXACT [] xref: EFO:1000485 xref: NCI:C9351 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:1532 ! pleural disease is_a: DOID:2645 ! benign mesothelioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:5158 name: pleural cancer def: "A connective tissue cancer that located_in the pleura. (DO)" [http://en.wikipedia.org/wiki/Pleural_cavity "DO"] synonym: "EFO:1000362" EXACT [] synonym: "malignant pleural neoplasm" EXACT [] synonym: "neoplasm of pleura" BROAD [] xref: EFO:1000362 xref: ICD10CM:C38.4 xref: ICD9CM:163 xref: NCI:C3547 is_a: DOID:201 ! connective tissue cancer is_a: DOID:9000315 ! Pleural Neoplasms created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5160 name: arteriosclerosis obliterans def: "Common occlusive arterial disease which is caused by ATHEROSCLEROSIS. It is characterized by lesions in the innermost layer (ARTERIAL INTIMA) of arteries including the AORTA and its branches to the extremities. Risk factors include smoking, HYPERLIPIDEMIA, and HYPERTENSION." [MESH:D001162] xref: EFO:1000820 xref: MESH:D001162 is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:5161 name: Monckeberg arteriosclerosis def: "Thickening and loss of elasticity of the walls of muscular ARTERIES due to calcification of the TUNICA MEDIA, the concentric layers of helically arranged SMOOTH MUSCLE CELLS." [MESH:D050380] synonym: "Medial Calcific Scleroses" EXACT [] synonym: "Medial Calcific Sclerosis" EXACT [] synonym: "Monckeberg's Medial Calcific Sclerosis" EXACT [] synonym: "Monckeberg's Sclerosis" EXACT [] synonym: "Monckeberg Medial Calcific Sclerosis" EXACT [] synonym: "Monckeberg Sclerosis" EXACT [] synonym: "Monckebergs Sclerosis" EXACT [] synonym: "Mönckeberg's Medial Calcific Sclerosis" EXACT [] synonym: "Mönckeberg's Sclerosis" EXACT [] synonym: "Mönckeberg Medial Calcific Sclerosis" EXACT [] synonym: "Mönckeberg Sclerosis" EXACT [] synonym: "Mönckebergs Sclerosis" EXACT [] xref: MESH:D050380 xref: RDO:0007570 is_a: DOID:2349 ! arteriosclerosis is_a: DOID:9006332 ! Vascular Calcification [Term] id: DOID:5162 name: arteriolosclerosis def: "An arteriosclerosis that is characterized by thickening of the wall of the small arteries and arterioles, caused by deposition of hyaline material in the wall or concentric smooth muscle wall hypertrophy, and results in lumen narrowing and tissue ischemia. (DO)" [https://en.wikipedia.org/wiki/Arteriolosclerosis "DO"] synonym: "Arterioloscleroses" EXACT [] xref: EFO:1000819 xref: MESH:D050379 xref: NCI:C35543 is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:5165 name: uterine corpus sarcoma def: "An uterine corpus cancer that is located_in the muscles of the uterus or located_in other tissues that support the uterus. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/uterinesarcoma/Patient "DO"] synonym: "EFO:0002914" EXACT [] synonym: "sarcoma of corpus uteri" EXACT [] synonym: "sarcoma of uterus" EXACT [] synonym: "uterine corpus undifferentiated sarcoma" NARROW [] synonym: "uterine sarcoma" EXACT [] xref: EFO:0002914 xref: EFO:0010833 xref: GARD:9383 xref: NCI:C6339 is_a: DOID:1115 ! sarcoma is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:5166 name: endometrial stromal tumor def: "Neoplasms of the endometrial stroma that sometimes involve the MYOMETRIUM. These tumors contain cells that may closely or remotely resemble the normal stromal cells. Endometrial stromal neoplasms are divided into three categories: (1) benign stromal nodules; (2) low-grade stromal sarcoma, or endolymphatic stromal myosis; and (3) malignant endometrial stromal sarcoma (SARCOMA, ENDOMETRIAL STROMAL)." [MESH:D036821] synonym: "Endolymphatic Stromal Myoses" EXACT [] synonym: "Endolymphatic Stromal Myosis" EXACT [] synonym: "endometrial stromal neoplasm" EXACT [] synonym: "endometrial stromal tumors" EXACT [] synonym: "Sarcoma, Endometrial Stromal, Low-Grade" EXACT [] xref: EFO:1000920 xref: MESH:D036821 is_a: DOID:1115 ! sarcoma is_a: DOID:1380 ! endometrial cancer is_a: DOID:9003944 ! Connective Tissue Neoplasms is_a: DOID:9007715 ! Endometrial Neoplasms [Term] id: DOID:5169 name: ovarian endometrioid stromal sarcoma def: "An ovary sarcoma that arises from endometrial stromal tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5609926/ "DO"] xref: NCI:C40065 xref: RDO:9001892 is_a: DOID:2146 ! ovary sarcoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5170 name: vaginal endometrial stromal sarcoma def: "A vagina sarcoma that has_material_basis_in endometrial stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24294390 "DO"] xref: NCI:C40270 is_a: DOID:1380 ! endometrial cancer is_a: DOID:1901 ! vagina sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5171 name: vaginal endometrial stromal tumor def: "A vaginal cancer that has_material_basis_in endometrial stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24294390 "DO"] xref: NCI:C40269 xref: RDO:9004612 is_a: DOID:119 ! vaginal cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5172 name: endometrium carcinoma in situ def: "An in situ carcinoma that is located_in the endometrium. (DO)" [https://www.sciencedirect.com/science/article/pii/0002937866903917 "DO"] synonym: "carcinoma in situ of endometrium" EXACT [] synonym: "endometrial carcinoma in situ" EXACT [] xref: ICD10CM:D07.0 is_a: DOID:2871 ! endometrial carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5176 name: renal Wilms' tumor synonym: "nonanaplastic renal Wilm's tumor" EXACT [] synonym: "nonanaplastic renal Wilm's tumour" EXACT [] synonym: "nonanaplastic renal Wilms tumor" EXACT [] synonym: "renal Wilms' tumour" EXACT [] xref: NCI:C6951 is_a: DOID:2154 ! nephroblastoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5178 name: metachronous kidney Wilms' tumor synonym: "metachronous Wilms tumor of the kidney" EXACT [] xref: NCI:C38158 xref: RDO:9004734 is_a: DOID:2154 ! nephroblastoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5179 name: mixed cell type kidney Wilms' tumor synonym: "mixed cell type kidney Wilms' tumour" EXACT [] synonym: "mixed cell type renal Wilms tumor" EXACT [] synonym: "mixed cell type renal Wilms tumour" EXACT [] xref: NCI:C9149 xref: RDO:9004735 is_a: DOID:2154 ! nephroblastoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:518 name: scrotum neoplasm synonym: "malignant scrotal neoplasm" EXACT [] synonym: "malignant tumor of scrotum" EXACT [] synonym: "malignant tumour of scrotum" EXACT [] synonym: "neoplasm of scrotum" EXACT [] synonym: "scrotal Ca" EXACT [] synonym: "scrotal tumor" EXACT [] synonym: "scrotum cancer" EXACT [] xref: ICD10CM:C63.2 xref: ICD9CM:187.7 xref: NCI:C3560 xref: NCI:C4380 is_a: DOID:3856 ! male reproductive organ cancer is_a: DOID:9003125 ! Male Genital Neoplasms created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:5182 name: blastema predominant kidney Wilms' tumor synonym: "blastema predominant kidney adenosarcoma" EXACT [] synonym: "blastema predominant kidney Wilms' tumour" EXACT [] synonym: "Blastema Predominant renal Wilms tumor" EXACT [] synonym: "Blastema Predominant renal Wilms tumour" EXACT [] xref: NCI:C9147 xref: RDO:9004736 is_a: DOID:5176 ! renal Wilms' tumor created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5183 name: hereditary Wilms' tumor def: "A nephroblastoma that results_in either bilateral disease or a family history of Wilms' tumour. (DO)" [http://www.cancerindex.org/geneweb/X210202.htm "DO"] synonym: "hereditary Wilms' tumour" EXACT [] synonym: "PREDISPOSITION TO WILMS TUMOR, CTR9-RELATED" RELATED [] synonym: "WT1" EXACT [] xref: NCI:C8496 is_a: DOID:2154 ! nephroblastoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5189 name: epithelial predominant Wilms' tumor synonym: "epithelial predominant kidney adenosarcoma" EXACT [] synonym: "epithelial predominant renal Wilms tumor" EXACT [] synonym: "epithelial predominant renal Wilms tumour" EXACT [] synonym: "epithelial predominant Wilms' tumour" EXACT [] xref: NCI:C9146 is_a: DOID:2154 ! nephroblastoma is_a: DOID:5176 ! renal Wilms' tumor created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:519 name: aortitis def: "Inflammation of the wall of the AORTA." [MESH:D001025] synonym: "aortitides" EXACT [] synonym: "LARGE VESSEL VASCULITIS" BROAD [] xref: EFO:1000816 xref: ICD10CM:I77.6 xref: MESH:D001025 xref: NCI:C97085 is_a: DOID:520 ! aortic disease is_a: DOID:865 ! vasculitis [Term] id: DOID:5190 name: cervical Wilms' tumor def: "A cervical carcinosarcoma is located_in the cervix with morphological features resembling Wilms tumor of the kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10620450 "DO"] synonym: "EFO:1000173" EXACT [] xref: EFO:1000173 xref: NCI:C40236 is_a: DOID:4112 ! cervical carcinosarcoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:5191 name: stromal predominant kidney Wilms' tumor synonym: "EFO:1000551" EXACT [] synonym: "stromal predominant kidney Wilms' tumour" EXACT [] synonym: "Stromal Predominant renal Wilms tumor" EXACT [NCI2004_11_17:C9148] synonym: "Stromal Predominant renal Wilms tumour" EXACT [] xref: EFO:1000551 xref: NCI:C9148 xref: RDO:9004902 is_a: DOID:2154 ! nephroblastoma is_a: DOID:5176 ! renal Wilms' tumor created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:5193 name: nodular ganglioneuroblastoma xref: NCI:C42058 is_a: DOID:4163 ! ganglioneuroblastoma [Term] id: DOID:5194 name: intermixed schwannian stroma-rich ganglioneuroblastoma xref: NCI:C42057 is_a: DOID:4163 ! ganglioneuroblastoma [Term] id: DOID:5195 name: peripheral nervous system ganglioneuroblastoma synonym: "PNS ganglioneuroblastoma" EXACT [] xref: NCI:C6594 is_a: DOID:4163 ! ganglioneuroblastoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5196 name: fallopian tube adenomatoid tumor def: "A fallopian tube benign neoplasm that derives_from mesothelium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13222203 "DO"] xref: NCI:C40129 xref: RDO:9004999 is_a: DOID:0060111 ! fallopian tube benign neoplasm is_a: DOID:746 ! adenomatoid tumor created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5199 name: ureteral obstruction def: "Blockage in any part of the URETER causing obstruction of urine flow from the kidney to the URINARY BLADDER. The obstruction may be congenital, acquired, unilateral, bilateral, complete, partial, acute, or chronic. Depending on the degree and duration of the obstruction, clinical features vary greatly such as HYDRONEPHROSIS and obstructive nephropathy." [MESH:D014517] synonym: "Ureteral Obstructions" EXACT [] xref: ICD9CM:593.4 xref: MESH:D014517 xref: RDO:0003206 is_a: DOID:1426 ! ureteral disease is_a: DOID:5200 ! urinary tract obstruction [Term] id: DOID:520 name: aortic disease def: "An artery disease that is characterized by degeneration of the cells composing the aortic wall. (DO)" [http://www.hopkinsmedicine.org/heart_vascular_institute/conditions_treatments/conditions/aorta.html "DO"] synonym: "aortic diseases" EXACT [] synonym: "aortic disorder" EXACT [] synonym: "Aortopathy" EXACT [] synonym: "disorder of the aorta" EXACT [] synonym: "Familial Aortopathy" EXACT [] xref: EFO:0005775 xref: MESH:D001018 xref: NCI:C101253 is_a: DOID:0050828 ! artery disease [Term] id: DOID:5200 name: urinary tract obstruction synonym: "obstructive uropathy" EXACT [] synonym: "urinary obstruction" EXACT [] xref: EFO:0009571 xref: ICD10CM:N13.9 xref: ICD9CM:599.6 xref: NCI:C3675 xref: NCI:C79805 is_a: DOID:18 ! urinary system disease created_by: rgd creation_date: 2017-10-12T00:00:00Z [Term] id: DOID:5204 name: fructose-1,6-bisphosphatase deficiency alt_id: MIM:229700 def: "A carbohydrate metabolic disorder that has_material_basis_in a deficiency of fructose-1,6-bisphosphatase resulting in hypoglycemia and metabolic acidosis on fasting due to insufficient fructose bisphosphatase for gluconeogenesis. (DO)" [http://en.wikipedia.org/wiki/Fructose-1\,6-bisphosphatase_deficiency "DO", http://en.wikipedia.org/wiki/Fructose_bisphosphatase_deficiency "DO"] synonym: "FBP1D" EXACT [] synonym: "fructose-1,6-bisphosphatase deficiencies" EXACT [] synonym: "fructose-1,6-diphosphatase deficiencies" EXACT [] synonym: "Fructose-1,6-Diphosphatase Deficiency" EXACT [] synonym: "fructose 1 phosphate aldolase deficiency" EXACT [] synonym: "Fructose-Biphosphatase Deficiencies" EXACT [] synonym: "Fructose Biphosphatase Deficiency" EXACT [] synonym: "Fructosediphosphatase Deficiencies" EXACT [] synonym: "Fructosediphosphatase Deficiency" EXACT [] synonym: "hexosediphosphatase deficiencies" EXACT [] synonym: "hexosediphosphatase deficiency" EXACT [] xref: GARD:2400 xref: ICD10CM:E74.19 xref: MESH:D015319 xref: NCI:C128119 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9000875 ! Fructose Metabolism, Inborn Errors [Term] id: DOID:5207 name: monodermal teratoma def: "An ovarian germ cell teratoma that has_material_basis_in a tissue type from one germ cell layer (ectoderm, mesoderm or endoderm). (DO)" [https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475 "DO"] synonym: "ovarian monodermal teratoma" EXACT [] xref: NCI:C7286 is_a: DOID:5567 ! ovarian germ cell teratoma is_a: DOID:6331 ! immature teratoma of ovary created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5208 name: malignant struma ovarii def: "A struma ovarii that is cancerous. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25640097 "DO"] xref: NCI:C4291 is_a: DOID:2641 ! ovarian germ cell monodermal and highly specialized teratoma [Term] id: DOID:5212 name: congenital disorder of glycosylation def: "A carbohydrate metabolic disorder that involves deficient or defective glycosylation of a variety of tissue proteins and/or lipids. (DO)" [http://en.wikipedia.org/wiki/Congenital_disorder_of_glycosylation "DO"] synonym: "Abnormal protein O-linked glycosylation" NARROW [] synonym: "carbohydrate-deficient glycoprotein syndrome" EXACT [] synonym: "carbohydrate-deficient glycoprotein syndromes" EXACT [] synonym: "congenital disorders of glycosylation" EXACT [] xref: GARD:10307 xref: HP:0012358 xref: MESH:D018981 xref: NCI:C84615 xref: ORDO:137 is_a: DOID:0080015 ! physical disorder is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:5213 name: chronic inflammatory demyelinating polyradiculoneuropathy def: "An autoimmune disease of peripheral nervous system that is characterized by inflammation of nerve roots and peripheral nerves and destruction of the fatty protective covering (myelin sheath) over the nerves. This affects how fast the nerve signals are transmitted and leads to loss of nerve fibers. (DO)" [https://rarediseases.org/rare-diseases/chronic-inflammatory-demyelinating-polyneuropathy/ "DO"] synonym: "chronic inflammatory demyelinating polyneuropathy" EXACT [] synonym: "chronic inflammatory polyradiculoneuropathies" EXACT [] synonym: "Chronic Inflammatory Polyradiculoneuropathy" EXACT [] synonym: "Chronic Inflammatory Polyradiculopathies" EXACT [] synonym: "Chronic Inflammatory Polyradiculopathy" EXACT [] synonym: "CIDP" EXACT [] xref: EFO:0009538 xref: EFO:1000868 xref: GARD:6102 xref: ICD10CM:G61.81 xref: ICD9CM:357.81 xref: MESH:D020277 is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:4308 ! polyradiculoneuropathy is_a: DOID:5214 ! demyelinating polyneuropathy [Term] id: DOID:5214 name: demyelinating polyneuropathy synonym: "peripheral demyelinating neuropathy" EXACT [] xref: NCI:C27062 xref: RDO:9004833 is_a: DOID:1389 ! polyneuropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:5221 name: chronic polyneuropathy xref: MONDO:0003335 xref: NCI:C36071 is_a: DOID:1389 ! polyneuropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:5222 name: acute necrotizing encephalitis synonym: "acute necrotizing encephalitides" EXACT [] xref: NCI:C35383 is_a: DOID:9588 ! encephalitis [Term] id: DOID:5223 name: infertility def: "A reduced or absent capacity to reproduce." [MESH:D007246] synonym: "male and female infertility" EXACT [] synonym: "reproductive sterility" EXACT [] synonym: "sterility" EXACT [] synonym: "sub-fertility" EXACT [] synonym: "subfertility" EXACT [] xref: EFO:0000545 xref: MESH:D007246 xref: MIM:PS616814 xref: NCI:C3836 is_a: DOID:229 ! female reproductive system disease is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:5224 name: acute hemorrhagic encephalitis xref: NCI:C35796 xref: RDO:9002787 is_a: DOID:9588 ! encephalitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5225 name: von Economo's disease synonym: "Encephalitis lethargica" EXACT [SNOMEDCT_2005_07_31:186500003] synonym: "von Economo disease" EXACT [] xref: ICD10CM:A85.8 xref: NCI:C26761 xref: RDO:9002792 is_a: DOID:9588 ! encephalitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5230 name: hepatoerythropoietic porphyria def: "An autosomal recessive cutaneous porphyria that is due to a deficiency of UROPORPHYRINOGEN DECARBOXYLASE in both the LIVER and the BONE MARROW. Similar to PORPHYRIA CUTANEA TARDA, this disorder is caused by defects in the fifth enzyme in the 8-enzyme biosynthetic pathway of HEME, but is a homozygous enzyme deficiency with less than 10% of the normal enzyme activity. Cutaneous lesions are severe and mutilating." [MESH:D017121] synonym: "Erythrohepatic Porphyria" EXACT [] synonym: "erythrohepatic porphyrias" EXACT [] synonym: "hepatoerythropoietic porphyrias" EXACT [] xref: GARD:6169 xref: MESH:D017121 xref: NCI:C84754 xref: ORDO:95159 is_a: DOID:3133 ! acute porphyria is_a: DOID:9005584 ! Hepatic Porphyrias [Term] id: DOID:5232 name: aortic valve prolapse def: "The downward displacement of the cuspal or pointed end of the trileaflet AORTIC VALVE causing misalignment of the cusps. Severe valve distortion can cause leakage and allow the backflow of blood from the ASCENDING AORTA back into the LEFT VENTRICLE, leading to aortic regurgitation." [MESH:D001023] synonym: "aortic valve prolapses" EXACT [] xref: EFO:1000815 xref: MESH:D001023 is_a: DOID:62 ! aortic valve disease is_a: DOID:9004382 ! Heart Valve Prolapse [Term] id: DOID:5233 name: glomangiosarcoma synonym: "malignant Glomus neoplasm" EXACT [] xref: ICDO:8710/3 xref: NCI:C4221 xref: RDO:9003006 is_a: DOID:2431 ! glomus tumor created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5236 name: subungual glomus tumor synonym: "subungual glomus tumour" EXACT [] xref: MONDO:0003341 xref: NCI:C36079 is_a: DOID:2431 ! glomus tumor created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5238 name: benign perivascular tumor xref: NCI:C6529 xref: RDO:9004599 is_a: DOID:0060091 ! cardiovascular organ benign neoplasm [Term] id: DOID:5240 name: retinal hemangioblastoma synonym: "Capillary hemangioma of retina" EXACT [] xref: MONDO:0003343 xref: NCI:C39783 is_a: DOID:0050687 ! cell type cancer is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:305 ! carcinoma is_a: DOID:4645 ! retinal cancer is_a: DOID:5241 ! hemangioblastoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5241 name: hemangioblastoma alt_id: RDO:0007184 def: "A benign tumor of the nervous system that may occur sporadically or in association with VON HIPPEL-LINDAU DISEASE. It accounts for approximately 2% of intracranial tumors, arising most frequently in the cerebellar hemispheres and vermis. Histologically, the tumors are composed of multiple capillary and sinusoidal channels lined with endothelial cells and clusters of lipid-laden pseudoxanthoma cells. Usually solitary, these tumors can be multiple and may also occur in the brain stem, spinal cord, retina, and supratentorial compartment. Cerebellar hemangioblastomas usually present in the third decade with INTRACRANIAL HYPERTENSION, and ataxia. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2071-2)" [MESH:D018325] synonym: "capillary hemangioblastoma" EXACT [] synonym: "hemangioblastomas" EXACT [] synonym: "Multiple Hemangioblastoma" EXACT [] synonym: "multiple hemangioblastomas" EXACT [] xref: GARD:8232 xref: GARD:8522 xref: ICDO:9161/1 xref: MESH:D018325 xref: NCI:C3801 is_a: DOID:255 ! hemangioma is_a: DOID:2725 ! capillary hemangioma [Term] id: DOID:525 name: central nervous system vasculitis def: "A vasculitis that is characterized by inflammation of blood vessel walls in the brain or spine. (DO)" [https://my.clevelandclinic.org/health/diseases/13205-central-nervous-system-vasculitis "DO"] synonym: "central nervous system angiitis" EXACT [] synonym: "cerebral angiitis" EXACT [] synonym: "cerebral vasculitis" EXACT [] synonym: "CNS Vasculitis" EXACT [] synonym: "granulomatous arteritis" EXACT [] synonym: "postzoster arteritis" EXACT [] synonym: "primary central nervous system vasculitis" EXACT [] synonym: "primary CNS vasculitis" EXACT [] synonym: "secondary CNS vasculitis" EXACT [] xref: MESH:D020293 xref: NCI:C84622 is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:865 ! vasculitis [Term] id: DOID:5251 name: inflammatory leiomyosarcoma def: "A leiomyosarcoma that is characterized by a prominent intristic inflammatory component. (DO)" [https://www.nature.com/articles/modpathol2017113 "DO"] xref: NCI:C27495 xref: RDO:9003935 is_a: DOID:1967 ! leiomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5253 name: conventional leiomyosarcoma def: "A leiomyosarcoma that is not histologically defined as spindle cell leiomyosarcoma, epithelioid leiomyosarcoma, or myxoid leiomyosarcoma. (DO)" [https://www.mayoclinic.org/diseases-conditions/leiomyosarcoma/cdc-20387733 "DO"] xref: NCI:C9428 is_a: DOID:1967 ! leiomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5254 name: central nervous system leiomyosarcoma def: "A leiomyosarcoma that is located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10761660 "DO"] synonym: "leiomyosarcoma of the CNS" EXACT [] xref: NCI:C6999 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5258 name: granular cell leiomyosarcoma def: "A leiomyosarcoma that is characterized by a proliferation of cells containing abundant granular eosinophilic cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3232754 "DO"] xref: NCI:C27494 xref: RDO:9003939 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:2411 ! granular cell tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5259 name: colon leiomyosarcoma def: "A leiomyosarcoma and sarcoma of colon that is located_in the colon. (DO)" [http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm "DO"] synonym: "colonic leiomyosarcoma" EXACT [] xref: NCI:C5494 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:5260 ! colon sarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:526 name: human immunodeficiency virus infectious disease alt_id: MIM:609423 def: "A viral infectious disease that results in destruction of immune system, leading to life-threatening opportunistic infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted by sexual contact, transmitted by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted by congenital method, and transmitted by contaminated needles. The virus infects helper T cells (CD4+ T cells) which are directly or indirectly destroyed, macrophages, and dendritic cells. The infection has symptom diarrhea, has symptom fatigue, has symptom fever, has symptom vaginal yeast infection, has symptom headache, has symptom mouth sores, has symptom muscle aches, has symptom sore throat, and has symptom swollen lymph glands. (DO)" [http://en.wikipedia.org/wiki/HIV "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000602.htm "DO"] synonym: "CCR5 PROMOTER POLYMORPHISM" RELATED [] synonym: "Congenital human immunodeficiency virus" NARROW [] synonym: "HIV-1, RESISTANCE TO" NARROW [] synonym: "HIV-1, SUSCEPTIBILITY TO HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RESISTANCE TO" NARROW [] synonym: "HIV-1 viremia, susceptibility to" NARROW [] synonym: "HIV Infection" EXACT [] synonym: "HIV Infections" EXACT [] synonym: "HTLV-III Infection" EXACT [] synonym: "HTLV III Infections" EXACT [] synonym: "HTLV-III-LAV Infection" EXACT [] synonym: "HTLV III LAV Infections" EXACT [] synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, DELAYED DISEASE PROGRESSION WITH INFECTION BY" NARROW [] synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, INCREASED PERINATAL TRANSMISSION OF" NARROW [] synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID DISEASE PROGRESSION WITH INFECTION BY" NARROW [] synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, RAPID PROGRESSION TO AIDS" NARROW [] synonym: "HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO" EXACT [] synonym: "T Lymphotropic Virus Type III Infections, Human" EXACT [] xref: EFO:0000180 xref: EFO:0000764 xref: ICD10CM:B20 xref: ICD9CM:042-042.99 xref: MESH:D015658 xref: NCI:C3108 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9003767 ! Viral Sexually Transmitted Diseases is_a: DOID:9005091 ! Lentivirus Infections [Term] id: DOID:5260 name: colon sarcoma def: "A colon cancer that arises from transformed cells of mesenchymal origin and is located_in the colon. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31243197/ "DO"] synonym: "colonic sarcoma" EXACT [] xref: NCI:C5495 is_a: DOID:1115 ! sarcoma is_a: DOID:219 ! colon cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:5261 name: heart leiomyosarcoma synonym: "leiomyosarcoma of heart" EXACT [] xref: NCI:C5364 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:5262 ! heart sarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5262 name: heart sarcoma def: "A sarcoma and malignant neoplasm of heart that is located_in the heart. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/sarcoma/cardiac-sarcoma "DO"] synonym: "cardiac sarcoma" EXACT [] synonym: "sarcoma of heart" EXACT [] xref: NCI:C7723 is_a: DOID:1115 ! sarcoma is_a: DOID:117 ! heart cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5263 name: ovary leiomyosarcoma def: "An ovary sarcoma that arises from smooth muscle progenitors. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22873115 "DO"] synonym: "EFO:0006718" EXACT [] synonym: "leiomyosarcoma of ovary" EXACT [] xref: EFO:0006718 xref: NCI:C5234 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:2146 ! ovary sarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5264 name: epithelioid leiomyosarcoma def: "A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28288693 "DO"] synonym: "epithelioid leiomyosarcomas" EXACT [] xref: ICDO:8891/3 xref: NCI:C3700 xref: RDO:9003933 is_a: DOID:1967 ! leiomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5265 name: lung leiomyosarcoma def: "A leiomyosarcoma and sarcoma of lung that is located_in the lung. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4774417/ "DO"] synonym: "pulmonary leiomyosarcoma" EXACT [] xref: NCI:C5667 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:2784 ! lung sarcoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:5267 name: anus leiomyosarcoma def: "A leiomyosarcoma and sarcoma of the anus that is located_in the anus. (DO)" [http://www.springerlink.com/content/t57853114066u8n8/ "DO"] synonym: "leiomyosarcoma of anus" EXACT [] xref: NCI:C5599 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:4067 ! anus sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5268 name: myxoid leiomyosarcoma def: "A leiomyosarcoma that is characterized by abundant myxoid stroma. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/leiomyosarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/26866354 "DO"] synonym: "myxoid leiomyosarcomas" EXACT [] xref: ICDO:8896/3 xref: NCI:C3701 is_a: DOID:1967 ! leiomyosarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5271 name: small intestine leiomyosarcoma def: "A small intestine sarcoma that affects the involuntary smooth muscles of the small intestines. (DO)" [http://en.wikipedia.org/wiki/Leiomyosarcoma "DO"] synonym: "leiomyosarcoma of the small bowel" EXACT [] synonym: "smooth muscle connective tissue tumor" EXACT [] xref: NCI:C7085 xref: RDO:9003973 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:5272 ! small intestinal sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5272 name: small intestinal sarcoma def: "A sarcoma and malignant tumor of small intestine that is located_in the small intestine. (DO)" [http://www.cancer.gov/cancertopics/types/smallintestine "DO"] synonym: "sarcoma of the small intestine" EXACT [] xref: NCI:C5335 is_a: DOID:10154 ! small intestine cancer is_a: DOID:1115 ! sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5273 name: cutaneous leiomyosarcoma synonym: "leiomyosarcoma of the skin" EXACT [] xref: NCI:C4484 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:2687 ! skin sarcoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5274 name: malignant dermis tumor synonym: "malignant dermis tumour" EXACT [] synonym: "malignant neoplasm of Dermis" EXACT [NCI2004_11_17:C4574] synonym: "malignant tumor of dermis" EXACT [SNOMEDCT_2005_07_31:255096006] synonym: "malignant tumour of dermis" EXACT [] xref: NCI:C4574 xref: RDO:9002981 is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5275 name: gallbladder leiomyosarcoma def: "A gallbladder sarcoma that is located_in the soft tissues of the gallbladder. (DO)" [http://en.wikipedia.org/wiki/Leiomyosarcoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/2278917 "DO"] synonym: "leiomyosarcoma of the gallbladder" EXACT [] xref: NCI:C5841 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:4058 ! gallbladder sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5276 name: esophagus leiomyosarcoma synonym: "leiomyosarcoma of esophagus" EXACT [] synonym: "leiomyosarcoma of oesophagus" EXACT [] synonym: "oesophagus leiomyosarcoma" EXACT [] xref: NCI:C5334 is_a: DOID:1114 ! esophagus sarcoma is_a: DOID:1967 ! leiomyosarcoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:528 name: hydrarthrosis def: "Accumulation of watery fluid in the cavity of a joint. (Dorland, 27th ed)" [MESH:D006833] synonym: "hydrarthroses" EXACT [] xref: ICD9CM:719.08 xref: MESH:D006833 is_a: DOID:381 ! arthropathy [Term] id: DOID:5280 name: gastric leiomyosarcoma xref: NCI:C27200 is_a: DOID:10534 ! stomach cancer is_a: DOID:1967 ! leiomyosarcoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:5282 name: prostate leiomyosarcoma def: "A prostate sarcoma that is located_in the prostate. (DO)" [https://academic.oup.com/jscr/article/2024/3/rjae138/7629840 "DO"] synonym: "leiomyosarcoma of the prostate" EXACT [] xref: NCI:C5526 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:4054 ! prostate sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5283 name: vagina leiomyosarcoma def: "A vagina sarcoma that has_material_basis_in smooth muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25909129 "DO"] synonym: "leiomyosarcoma of the vagina" EXACT [] xref: NCI:C6326 is_a: DOID:1901 ! vagina sarcoma is_a: DOID:1967 ! leiomyosarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5284 name: retroperitoneal leiomyosarcoma xref: NCI:C27904 is_a: DOID:12341 ! retroperitoneal sarcoma [Term] id: DOID:5285 name: breast leiomyosarcoma def: "A breast sarcoma that arises from smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5094828/ "DO"] synonym: "leiomyosarcoma of the breast" EXACT [] xref: NCI:C5186 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:3017 ! breast sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5286 name: vulvar leiomyosarcoma def: "A vulvar sarcoma that has_material_basis_in smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26010680 "DO"] synonym: "EFO:1001975" EXACT [] xref: EFO:1001975 xref: NCI:C40318 is_a: DOID:2096 ! vulvar sarcoma [Term] id: DOID:5287 name: kidney leiomyosarcoma def: "A leiomyosarcoma and sarcoma of kidney that is located_in the kidney. (DO)" [http://www.sage-hindawi.com/journals/pri/2010/652398.html "DO"] synonym: "leiomyosarcoma of kidney" EXACT [] xref: NCI:C6183 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:4242 ! kidney sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5288 name: larynx leiomyosarcoma def: "A leiomyosarcoma located_in the larynx. (DO)" [http://findarticles.com/p/articles/mi_m0BUM/is_7_84/ai_n14920168/ "DO"] synonym: "leiomyosarcoma of larynx" EXACT [] xref: NCI:C6022 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:2877 ! larynx sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5289 name: uterus leiomyosarcoma def: "A uterine Corpus sarcoma and leiomyosarcoma and uterine Corpus smooth muscle neoplasm that is located_in the smooth muscle of the uterus. (DO)" [http://en.wikipedia.org/wiki/Leiomyosarcoma "DO"] synonym: "EFO:1001974" EXACT [] synonym: "leiomyosarcoma of Corpus Uteri" EXACT [] xref: EFO:1001974 xref: NCI:C6340 xref: ORDO:213625 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:5165 ! uterine corpus sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:529 name: blepharospasm def: "A focal dystonia that is characterized by the involuntary, forcible contraction of the muscles controlling eye blinks. (DO)" [http://www.ninds.nih.gov/disorders/dystonias/detail_dystonias.htm "DO"] synonym: "blepharospasms" EXACT [] xref: GARD:5909 xref: ICD10CM:G24.5 xref: ICD9CM:333.81 xref: MESH:D001764 xref: NCI:C118723 is_a: DOID:0050836 ! focal dystonia is_a: DOID:530 ! eyelid disease [Term] id: DOID:5292 name: mediastinum leiomyosarcoma def: "A leiomyosarcoma and sarcoma of the mediastinum that derive_from smooth muscle and are usually located_in the esophagus or located_in the main vessels. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33776690/ "DO", https://pubmed.ncbi.nlm.nih.gov/34446630/ "DO"] synonym: "leiomyosarcoma of mediastinum" EXACT [] xref: NCI:C6619 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:4050 ! mediastinum sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5293 name: extrahepatic bile duct leiomyosarcoma def: "A leiomyosarcoma and sarcoma of bile duct that is located_in the bile duct or located_in the outside of the liver. (DO)" [http://www.cancer.gov/dictionary/?CdrID=44498 "DO", http://www.cancer.gov/dictionary/?CdrID=46027 "DO"] synonym: "leiomyosarcoma of the bile duct" EXACT [] xref: NCI:C5848 xref: RDO:9004013 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:4064 ! bile duct sarcoma is_a: DOID:4682 ! extrahepatic bile duct carcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5295 name: intestinal disease alt_id: OMIA:002031 def: "A gastrointestinal system disease that is located_in the intestine. (DO)" [http://en.wikipedia.org/wiki/Human_gastrointestinal_tract "DO"] synonym: "intestinal diseases" EXACT [] synonym: "Lundehund syndrome" NARROW [] synonym: "small intestine enteropathy" NARROW [] xref: EFO:0000405 xref: EFO:0009431 xref: EFO:0009705 xref: ICD10CM:K63.9 xref: ICD9CM:569.9 xref: MESH:D007410 xref: NCI:C26801 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:5296 name: liver leiomyosarcoma def: "A leiomyosarcoma and sarcoma of liver that is located_in the liver. (DO)" [http://www.cancer.gov/dictionary/?CdrID=46027 "DO"] synonym: "leiomyosarcoma of the liver" EXACT [] xref: NCI:C5756 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:270 ! liver sarcoma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:5297 name: rectum leiomyosarcoma def: "A rectum sarcoma that is a smooth muscle tumor and is located_in the rectum. (DO)" [http://coloncancer.about.com/od/typesofcancer/a/Leiomyosarcoma.htm "DO"] synonym: "leiomyosarcoma of rectum" EXACT [] xref: NCI:C5549 is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:1995 ! rectum sarcoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5299 name: endometrial clear cell adenocarcinoma def: "An endometrial adenocarcinoma that is characterized by the presence of cells with clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24817975 "DO"] synonym: "clear cell carcinoma of endometrium" EXACT [] synonym: "EFO:1000231" EXACT [] xref: EFO:1000231 xref: NCI:C8028 is_a: DOID:2870 ! endometrial adenocarcinoma is_a: DOID:4468 ! clear cell adenocarcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:53 name: pituitary gland disease def: "An endocrine system disease that is located_in the pituitary gland. (DO)" [http://en.wikipedia.org/wiki/Pituitary_disease "DO"] synonym: "Adenohypophyseal Disease" EXACT [] synonym: "adenohypophyseal diseases" EXACT [] synonym: "Anterior Pituitary Disease" EXACT [] synonym: "anterior pituitary diseases" EXACT [] synonym: "Hypophyseal Disorder" EXACT [] synonym: "hypophyseal disorders" EXACT [] synonym: "Neurohypophyseal Disease" EXACT [] synonym: "Neurohypophyseal Diseases" EXACT [] synonym: "Pituitary Disease" EXACT [] synonym: "Pituitary Diseases" EXACT [] synonym: "Pituitary Disorder" EXACT [] synonym: "Pituitary Disorders" EXACT [] synonym: "pituitary gland diseases" EXACT [] synonym: "pituitary gland disorder" EXACT [] synonym: "posterior pituitary disease" EXACT [] synonym: "posterior pituitary diseases" EXACT [] xref: EFO:0009607 xref: ICD9CM:253.1 xref: MESH:D010900 is_a: DOID:1931 ! hypothalamic disease is_a: DOID:28 ! endocrine system disease [Term] id: DOID:530 name: eyelid disease def: "An adnexa disease that is located_in the eyelid. (DO)" [http://en.wikipedia.org/wiki/Eye_disease#H00-H06_Disorders_of_eyelid.2C_lacrimal_system_and_orbit "DO"] synonym: "eyelid diseases" EXACT [] xref: EFO:0009547 xref: ICD10CM:H02.9 xref: ICD9CM:374.9 xref: MESH:D005141 xref: NCI:C26768 is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease [Term] id: DOID:5301 name: fallopian tube clear cell adenocarcinoma def: "A fallopian tube adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.hindawi.com/journals/criog/2015/183243/ "DO"] synonym: "clear cell carcinoma of the fallopian tube" EXACT [] xref: NCI:C6280 is_a: DOID:3706 ! fallopian tube adenocarcinoma is_a: DOID:4468 ! clear cell adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:5302 name: uterine ligament clear cell adenocarcinoma def: "A uterine ligament adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26699941 "DO"] xref: NCI:C40139 is_a: DOID:3700 ! uterine ligament adenocarcinoma is_a: DOID:4468 ! clear cell adenocarcinoma [Term] id: DOID:5303 name: cervical clear cell adenocarcinoma def: "A cervical adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23849091 "DO"] synonym: "clear cell carcinoma of the cervix uteri" EXACT [NCI2004_11_17:C6344] synonym: "EFO:1000163" EXACT [] xref: EFO:1000163 xref: NCI:C6344 is_a: DOID:3702 ! cervical adenocarcinoma is_a: DOID:4468 ! clear cell adenocarcinoma [Term] id: DOID:5304 name: ovarian clear cell adenocarcinoma def: "A ovarian adenocarcinoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25398420 "DO"] synonym: "clear cell adenocarcinoma of ovary" EXACT [] synonym: "clear cell adenocarcinoma of the ovary" EXACT [] synonym: "EFO:1000042" EXACT [] xref: EFO:1000042 xref: NCI:C40078 xref: ORDO:398971 is_a: DOID:3713 ! ovary adenocarcinoma is_a: DOID:4468 ! clear cell adenocarcinoma [Term] id: DOID:5306 name: bladder clear cell adenocarcinoma def: "A clear cell adenocarcinoma that is located_in the bladder. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3183708/ "DO"] synonym: "bladder Mesonephric adenocarcinoma" EXACT [] synonym: "clear cell adenocarcinoma of bladder" EXACT [] xref: NCI:C6179 is_a: DOID:3711 ! bladder adenocarcinoma is_a: DOID:4468 ! clear cell adenocarcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5307 name: urethra clear cell adenocarcinoma def: "A clear cell adenocarcinoma that is located_in the urethra. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25685552 "DO"] synonym: "Clear cell adenocarcinoma of the urethra" EXACT [NCI2004_11_17:C6172] xref: NCI:C6172 xref: RDO:9004426 is_a: DOID:4468 ! clear cell adenocarcinoma is_a: DOID:4910 ! urethra adenocarcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5308 name: ampulla of Vater clear cell adenocarcinoma xref: NCI:C27414 is_a: DOID:3502 ! ampulla of Vater adenocarcinoma is_a: DOID:7032 ! bile duct clear cell adenocarcinoma created_by: rgd creation_date: 2017-09-26T00:00:00Z [Term] id: DOID:5309 name: epithelial-myoepithelial carcinoma xref: ICDO:8562/3 xref: NCI:C4199 is_a: DOID:8850 ! salivary gland cancer [Term] id: DOID:5310 name: glycogen-rich clear cell breast carcinoma def: "A glycogen-rich carcinoma that is characterized by predominantly clear cytoplasm due to glycogen. (DO)" [http://surgpathcriteria.stanford.edu/breast/glycogencabr/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/24400866 "DO"] synonym: "glycogen-rich carcinoma of breast" EXACT [] xref: NCI:C40368 is_a: DOID:0081028 ! glycogen-rich carcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5313 name: vulvar alveolar soft part sarcoma def: "An alveolar soft part sarcoma and vulvar sarcoma that is located_in the vulva. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/7060986 "DO"] xref: NCI:C40320 is_a: DOID:2096 ! vulvar sarcoma [Term] id: DOID:5324 name: fallopian tube germ cell cancer def: "A fallopian tube cancer that derives_from germ cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10202679 "DO"] synonym: "fallopian tube germ cell neoplasm" RELATED [] xref: NCI:C40130 is_a: DOID:1964 ! fallopian tube cancer is_a: DOID:2994 ! germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5325 name: Roberts syndrome alt_id: DOID:0050536 alt_id: MIM:268300 def: "A syndrome characterized by tetraphocomelia, craniofacial anomalies, growth retardation, intellectual disability, and cardiac and renal abnormalities that has_material_basis_in homozygous or compound heterozygous mutation in the ESCO2 gene on chromosome 8p21.1. (DO)" [https://ghr.nlm.nih.gov/condition/roberts-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/20101700 "DO"] comment: GHR reference SC phocomelia syndrome is a mild variant of Roberts syndrome, not a distinct disease (DO) synonym: "Appelt-Gerken-Lenz syndrome" EXACT [] synonym: "ESCO2-RELATED CONDITION" BROAD [] synonym: "hypomelia hypotrichosis facial hemangioma syndrome" EXACT [] synonym: "long bone deficiencies associated with cleft lip-palate" EXACT [] synonym: "pseudothalidomide syndrome" EXACT [] synonym: "RBS" EXACT [] synonym: "Roberts-SC phocomelia syndrome" EXACT [] synonym: "SC phocomelia syndrome" EXACT [] synonym: "SC pseudothalidomide syndrome" EXACT [] synonym: "SC syndrome" EXACT [] synonym: "tetraphocomelia-cleft palate syndrome" EXACT [] xref: GARD:7387 xref: MESH:C535687 xref: NCI:C126326 xref: NCI:C4681 xref: ORDO:3103 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:5327 name: retinal detachment alt_id: MIM:180050 def: "Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Retinal detachment occurs more commonly in men than in women, in eyes with degenerative myopia, in aging and in aphakia. It may occur after an uncomplicated cataract extraction, but it is seen more often if vitreous humor has been lost during surgery. (Dorland, 27th ed; Newell, Ophthalmology: Principles and Concepts, 7th ed, p310-12)." [MESH:D012163] synonym: "Retinal Detachments" EXACT [] synonym: "Retinal Pigment Epithelial Detachment" EXACT [] xref: EFO:0005773 xref: ICD10CM:H33.2 xref: ICD9CM:361.9 xref: MESH:D012163 xref: NCI:C26874 is_a: DOID:5679 ! retinal disease [Term] id: DOID:533 name: thymus gland disease def: "disease of thymus gland" [] synonym: "disease of thymus gland" EXACT [] synonym: "thymus gland disorder" EXACT [] xref: ICD10CM:E32 xref: ICD9CM:254 xref: NCI:C26962 is_a: DOID:28 ! endocrine system disease is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:5330 name: dental pulp disease def: "A tooth disease located_in dental pulp. (DO)" [https://en.wikipedia.org/wiki/Pulp_%28tooth%29 "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C34530 "DO"] synonym: "dental pulp diseases" EXACT [] synonym: "dental pulp disorder" EXACT [] synonym: "disorder of pulp of tooth" EXACT [] synonym: "pulp disorder" EXACT [] xref: EFO:0009540 xref: MESH:D003788 xref: NCI:C34530 is_a: DOID:1091 ! tooth disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:5331 name: testicular granulosa cell tumor synonym: "granulosa cell tumor of testis" EXACT [] synonym: "granulosa cell tumour of testis" EXACT [] synonym: "testicular granulosa cell tumour" EXACT [] xref: EFO:1000567 xref: NCI:C6357 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:2998 ! testicular cancer is_a: DOID:2999 ! granulosa cell tumor created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5334 name: paraphimosis def: "A condition in which the FORESKIN, once retracted, cannot return to its original position. If this condition persists, it can lead to painful constriction of GLANS PENIS, swelling, and impaired blood flow to the penis." [MESH:D010263] synonym: "paraphimoses" EXACT [] xref: EFO:1001086 xref: ICD10CM:N47.2 xref: MESH:D010263 xref: NCI:C34893 is_a: DOID:2712 ! phimosis [Term] id: DOID:5337 name: epulis synonym: "epulides" EXACT [] synonym: "gingival polyp" EXACT [] synonym: "polyp of gum" EXACT [] xref: NCI:C3948 is_a: DOID:3086 ! gingival overgrowth [Term] id: DOID:5338 name: gingival hypertrophy def: "Abnormal enlargement or overgrowth of the gingivae brought about by enlargement of existing cells." [MESH:D005886] synonym: "Gingival Hypertrophies" EXACT [] synonym: "hypertrophy of gingivae" EXACT [] xref: MESH:D005886 is_a: DOID:3086 ! gingival overgrowth [Term] id: DOID:5339 name: cyclic hematopoiesis alt_id: MIM:162800 alt_id: OMIA:000248 def: "A rare disease characterized by regular 21-day cyclic fluctuations in the number of blood neutrophils, monocytes, eosinophils, lymphocytes, platelets, and reticulocytes. The recurrent severe neutropenia causes patients to experience periodic symptoms of fever, malaise, mucosal ulcers, and, rarely, life-threatening infections. (OMIM)" [] synonym: "cyclic agranulocytosis" EXACT [] synonym: "cyclical neutropenia" EXACT [] synonym: "cyclic leucopenia" EXACT [] synonym: "cyclic neutropenia" EXACT [] synonym: "ELANE-RELATED CONDITION" BROAD [] synonym: "periodic neutropenia" EXACT [] xref: GARD:6229 xref: ICD10CM:D70.4 xref: ICD9CM:288.02 xref: MESH:C536227 xref: NCI:C3820 xref: ORDO:2686 is_a: DOID:1227 ! neutropenia [Term] id: DOID:5340 name: anterograde amnesia def: "An amnestic disorder that involves the impaired or lost ability to memorize new things. (DO)" [http://en.wikipedia.org/wiki/Amnesia "DO"] synonym: "Anterograde Amnesias" EXACT [] synonym: "Anterograde Memory Loss" EXACT [] synonym: "Post-Ictal Amnesia" EXACT [] synonym: "Post-Ictal Amnesias" EXACT [] synonym: "post-ictal memory loss" EXACT [] xref: ICD10CM:R41.1 xref: MESH:D020324 is_a: DOID:10914 ! amnestic disorder [Term] id: DOID:5341 name: pineal region yolk sac tumor synonym: "Pineal Region Yolk Sac neoplasm" EXACT [NCI2004_11_17:C6752] xref: NCI:C6752 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm [Term] id: DOID:5342 name: childhood endodermal sinus tumor def: "An endodermal sinus tumor that occurs in children. (DO)" [http://en.wikipedia.org/wiki/Endodermal_sinus_tumor "DO"] synonym: "childhood endodermal sinus neoplasm" EXACT [] synonym: "childhood endodermal sinus tumour" EXACT [] synonym: "paediatric Yolk Sac tumour" EXACT [] synonym: "pediatric Yolk Sac tumor" RELATED [] xref: NCI:C27364 xref: RDO:9004278 is_a: DOID:1911 ! endodermal sinus tumor created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5343 name: central nervous system endodermal sinus tumor synonym: "central nervous system endodermal sinus tumour" EXACT [] synonym: "childhood central nervous system endodermal sinus neoplasm" EXACT [] synonym: "paediatric central nervous system Yolk Sac tumour" EXACT [] synonym: "pediatric central nervous system yolk sac tumor" EXACT [] synonym: "yolk sac tumor of the CNS" EXACT [] synonym: "yolk sac tumour of the CNS" EXACT [] xref: NCI:C6209 xref: NCI:C7011 is_a: DOID:1911 ! endodermal sinus tumor is_a: DOID:4439 ! central nervous system germ cell tumor created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5344 name: testicular yolk sac tumor synonym: "EFO:1000574" EXACT [] synonym: "testicular Yolk Sac neoplasm" EXACT [NCI2004_11_17:C8000] xref: EFO:1000574 xref: GARD:348 xref: NCI:C8000 is_a: DOID:5345 ! testicular non-seminomatous germ cell cancer [Term] id: DOID:5345 name: testicular non-seminomatous germ cell cancer synonym: "malignant non-seminomatous germ cell tumor of testis" EXACT [] xref: NCI:C5027 is_a: DOID:5556 ! testicular malignant germ cell cancer [Term] id: DOID:5348 name: adult endodermal sinus tumor def: "An endodermal sinus tumor that occurs in adults. (DO)" [http://en.wikipedia.org/wiki/Endodermal_sinus_tumor "DO"] synonym: "adult endodermal sinus neoplasm" EXACT [] synonym: "adult Yolk Sac neoplasm" EXACT [NCI2004_11_17:C27241] xref: NCI:C27241 xref: RDO:9004280 is_a: DOID:1911 ! endodermal sinus tumor created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5349 name: central nervous system adult germ cell tumor synonym: "central nervous system adult germ cell tumour" EXACT [] synonym: "germ cell tumor of the adult CNS" EXACT [NCI2004_11_17:C6285] synonym: "germ cell tumour of the adult CNS" EXACT [] xref: NCI:C6285 is_a: DOID:4439 ! central nervous system germ cell tumor [Term] id: DOID:535 name: sleep disorder def: "A disease of mental health that involves disruption of sleep patterns. (DO)" [http://en.wikipedia.org/wiki/Sleep_disorder "DO"] synonym: "long sleeper syndrome" EXACT [] synonym: "non-organic sleep disorder" EXACT [] synonym: "Sleep Disorders" EXACT [] synonym: "SLEEP DISTURBANCE" RELATED [] synonym: "Sleep Related Neurogenic Tachypnea" EXACT [] synonym: "Sleep-Related Neurogenic Tachypneas" EXACT [] synonym: "Sleep Wake Disorder" EXACT [] synonym: "Sleep Wake Disorders" EXACT [] synonym: "subwakefullness syndrome" EXACT [] xref: EFO:0008568 xref: ICD9CM:307.4 xref: MESH:D012893 is_a: DOID:150 ! disease of mental health is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:5350 name: ovarian endodermal sinus tumor def: "An ovarian primitive germ cell tumor that has_material_basis_in cells that line the yolk sac of the embryo. (DO)" [https://en.wikipedia.org/wiki/Endodermal_sinus_tumor "DO"] synonym: "EFO:1000437" EXACT [] synonym: "Endodermal sinus tumor of ovary" EXACT [SNOMEDCT_2005_07_31:254876005] synonym: "Endodermal sinus tumour of ovary" EXACT [] synonym: "ovarian endodermal sinus tumour" EXACT [] synonym: "Ovarian Yolk Sac tumor" EXACT [NCI2004_11_17:C8107] synonym: "Ovarian Yolk Sac tumour" EXACT [] xref: EFO:1000437 xref: NCI:C8107 xref: RDO:9005068 is_a: DOID:5351 ! ovarian primitive germ cell tumor created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:5351 name: ovarian primitive germ cell tumor def: "A malignant ovarian germ cell neoplasm that has_material_basis_in primitive germ cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24576031 "DO"] xref: MONDO:0003408 xref: NCI:C39986 is_a: DOID:2155 ! malignant ovarian germ cell neoplasm created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5353 name: colonic disease def: "A intestinal disease located in the colon. (DO)" [https://www.nature.com/subjects/colonic-diseases "DO"] synonym: "colon disorder" EXACT [] synonym: "Colon Dysplasia" NARROW [] synonym: "colonic diseases" EXACT [] xref: EFO:1000183 xref: MESH:D003108 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:5362 name: focal epithelial hyperplasia def: "A viral infectious disease that results_in infection located_in mouth, has_material_basis_in human papillomavirus (types 13 or 32), has_symptom papules or nodules in the oral cavity. (DO)" [https://en.wikipedia.org/wiki/Heck%27s_disease "DO"] synonym: "focal epithelial hyperplasia of the oral mucosa" EXACT [] synonym: "focal epithelial hyperplasia, oral" EXACT [] synonym: "Focal Epithelial Hyperplasias" EXACT [] synonym: "Heck's disease" EXACT [] synonym: "Heck Disease" EXACT [] synonym: "Hecks disease" EXACT [] synonym: "multifocal epithelial hyperplasia" EXACT [] xref: EFO:0007275 xref: MESH:C565008 xref: MESH:D017573 xref: MIM:136400 xref: MIM:229045 xref: MONDO:0009237 xref: NCI:C97083 is_a: DOID:403 ! mouth disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:5363 name: myxoid liposarcoma def: "A liposarcoma that is characterized by the presence of a hypocellular spindle cell proliferation set in a myxoid background and has_material_basis_in chromosomal translocations. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8913727 "DO"] synonym: "EFO:0000613" EXACT [] synonym: "myxoid/round cell liposarcoma" EXACT [] synonym: "myxoid liposarcomas" EXACT [] xref: EFO:0000613 xref: GARD:7157 xref: ICDO:8852/3 xref: MESH:D018208 xref: MIM:613488 xref: MONDO:0013280 xref: ORDO:99967 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5364 name: pulmonary coin lesion def: "A single lung lesion that is characterized by a small round mass of tissue, usually less than 1 cm in diameter, and can be detected by chest radiography. A solitary pulmonary nodule can be associated with neoplasm, tuberculosis, cyst, or other anomalies in the lung, the CHEST WALL, or the PLEURA." [MESH:D003074] synonym: "Coin lesion lung" EXACT [MTHICD9_2006:793.1] synonym: "Coin lesion of lung" EXACT [] synonym: "EFO:1001133" EXACT [] synonym: "Pulmonary Coin Lesions" EXACT [] synonym: "Solitary Pulmonary Nodule" EXACT [] synonym: "Solitary Pulmonary Nodules" EXACT [] xref: EFO:1001133 xref: ICD10CM:R91.1 xref: MESH:D003074 xref: RDO:0005231 is_a: DOID:3683 ! lung benign neoplasm [Term] id: DOID:5368 name: Wolffian duct adenocarcinoma def: "A cervical adenocarcinoma that has_material_basis_in remnants of mesonephric ducts and is located anywhere along the length between the ovary and vagina in sites of remnant wolffian ducts. (DO)" [https://rarediseases.info.nih.gov/diseases/8680/wolffian-tumor "DO", https://www.ncbi.nlm.nih.gov/articles/PMC4230074/ "DO"] synonym: "cervical mesonephric adenocarcinoma" EXACT [] xref: NCI:C40254 is_a: DOID:299 ! adenocarcinoma is_a: DOID:3702 ! cervical adenocarcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:5370 name: breast hemangiopericytoma def: "A hemangiopericytoma that is manifested in the breast. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25688313/ "DO"] synonym: "hemangiopericytoma of the breast" EXACT [] xref: NCI:C40396 is_a: DOID:264 ! hemangiopericytoma is_a: DOID:3017 ! breast sarcoma created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:5373 name: retroperitoneal hemangiopericytoma xref: NCI:C5386 is_a: DOID:264 ! hemangiopericytoma is_a: DOID:9004476 ! Retroperitoneal Neoplasms created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5374 name: pilomatrixoma alt_id: MIM:132600 def: "A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)" [MESH:D018296] synonym: "benign pilomatricoma" EXACT [] synonym: "benign pilomatrixoma" EXACT [] synonym: "Calcifying Epithelioma of Malherbe" EXACT [] synonym: "Epithelioma Calcificans Of Malherbe" EXACT [] synonym: "Malherbe calcifying epithelioma" EXACT [] synonym: "pilomatricoma" EXACT [] synonym: "PTR" EXACT [] xref: EFO:0009082 xref: GARD:9452 xref: MESH:D018296 xref: NCI:C7368 is_a: DOID:5375 ! hair follicle neoplasm is_a: DOID:9003929 ! Basal Cell Neoplasms [Term] id: DOID:5375 name: hair follicle neoplasm def: "An uncontrolled autonomous cell-proliferation originating in a hair follicle. (HPO)" [] synonym: "hair matrix neoplasm" EXACT [] synonym: "hair matrix tumour" EXACT [] xref: NCI:C7367 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:5376 name: skin pilomatrix carcinoma synonym: "malignant pilomatricoma" EXACT [] synonym: "pilomatrix carcinoma of skin" EXACT [] xref: NCI:C4114 is_a: DOID:3451 ! skin carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5378 name: hemoglobin D disease synonym: "Hb-D disease" EXACT [] synonym: "HEMOGLOBIN D (GRANADA)" RELATED [] xref: ICD10CM:D58.2 xref: NCI:C35344 is_a: DOID:2860 ! hemoglobinopathy created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:5379 name: hemoglobin E disease synonym: "Hb-E disease" EXACT [] xref: EFO:0004523 xref: GARD:2641 xref: MONDO:0016243 xref: NCI:C35287 is_a: DOID:2860 ! hemoglobinopathy created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:538 name: internuclear ophthalmoplegia synonym: "internuclear ophthalmoplegias" EXACT [] xref: ICD10CM:H51.2 xref: ICD9CM:378.86 is_a: DOID:539 ! ophthalmoplegia is_a: DOID:540 ! strabismus [Term] id: DOID:5381 name: bile duct adenoma def: "A biliary tract benign neoplasm that results_in a small firm white nodule with multiple bile ducts that are located_in a fibrous stroma. (DO)" [https://www.sciencedirect.com/topics/medicine-and-dentistry/bile-duct-adenoma "DO"] synonym: "Bile Duct Adenomas" EXACT [] synonym: "cholangioadenoma" EXACT [] synonym: "Cholangioma" EXACT [] synonym: "Cholangiomas" EXACT [] synonym: "EFO:1000123" EXACT [] xref: EFO:1000123 xref: ICDO:8160/0 xref: MESH:D002759 xref: NCI:C2942 is_a: DOID:657 ! adenoma is_a: DOID:9002936 ! Bile Duct Neoplasms [Term] id: DOID:5382 name: Bartholin's gland adenoma def: "A Bartholin's gland benign neoplasm that is characterized by glands or glandlike structures and has_material_basis_in epithelial tissue. (DO)" [https://en.wikipedia.org/wiki/Adenoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/18152506 "DO"] synonym: "Bartholin gland adenoma" EXACT [] xref: NCI:C40299 is_a: DOID:2068 ! Bartholin's gland benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5384 name: bile duct cystadenoma def: "A biliary tract benign neoplasm that is located_in the bile duct and derives_from epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106371/ "DO"] synonym: "cystadenoma of the bile duct" EXACT [] xref: ICDO:8161/0 xref: MONDO:0003420 xref: NCI:C4129 is_a: DOID:2634 ! cystadenoma is_a: DOID:5381 ! bile duct adenoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5385 name: mixed cell adenoma def: "An adenoma that has_material_basis_in more than one cell type. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25002356 "DO"] xref: ICDO:8323/0 xref: NCI:C4157 is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5386 name: lung adenoma def: "A lung benign neoplasm that derives_from glandular epithelial cells. (DO)" [https://www.lungcancer.org/find_information/publications/163-lung_cancer_101/268-types_and_staging "DO"] synonym: "adenoma of lung" EXACT [] synonym: "pulmonary adenoma" EXACT [] xref: NCI:C4455 is_a: DOID:3683 ! lung benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:5387 name: middle ear adenoma def: "A sensory organ benign neoplasm that is located_in the middle ear. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25741045 "DO"] synonym: "adenoma of middle ear" EXACT [] synonym: "adenoma of the middle ear" EXACT [] xref: NCI:C6834 is_a: DOID:0080619 ! auditory system benign neoplasm is_a: DOID:5100 ! middle ear disease is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5389 name: oxyphilic adenoma def: "A usually benign glandular tumor composed of oxyphil cells, large cells with small irregular nuclei and dense acidophilic granules due to the presence of abundant MITOCHONDRIA. Oxyphil cells, also known as oncocytes, are found in oncocytomas of the kidney, salivary glands, and endocrine glands. In the thyroid gland, oxyphil cells are known as Hurthle cells and Askanazy cells." [MESH:D018249] synonym: "follicular adenoma, oxyphilic cell" EXACT [] synonym: "Huerthle cell tumor" EXACT [] synonym: "Hurthle Cell Tumor" EXACT [] synonym: "oncocytoma" EXACT [] xref: EFO:1001079 xref: MESH:D018249 xref: NCI:C3759 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:539 name: ophthalmoplegia def: "Paralysis of one or more of the ocular muscles due to disorders of the eye muscles, neuromuscular junction, supporting soft tissue, tendons, or innervation to the muscles." [MESH:D009886] synonym: "External Ophthalmoplegia" EXACT [] synonym: "external ophthalmoplegias" EXACT [] synonym: "extraocular muscle paralysis" EXACT [] synonym: "eye movement paralysis" EXACT [] synonym: "Internal Ophthalmoplegia" EXACT [] synonym: "Internal Ophthalmoplegias" EXACT [] synonym: "Oculomotor Paralysis" EXACT [] synonym: "Ophthalmopareses" EXACT [] synonym: "Ophthalmoparesis" EXACT [] synonym: "OPHTHALMOPLEGIA, ISOLATED" NARROW [] synonym: "Ophthalmoplegias" EXACT [] synonym: "total ophthalmoplegia" EXACT [] xref: ICD9CM:378.56 xref: MESH:D009886 xref: NCI:C79697 is_a: DOID:1279 ! ocular motility disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:5390 name: clear cell adenoma def: "An adenoma that is composed_of cells with a clear cytoplasm located_in ovary. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4151 "DO"] synonym: "Borderline Ovarian Clear Cell Tumor" NARROW [] xref: EFO:1000136 xref: ICDO:8310/0 xref: MONDO:0003426 xref: NCI:C4151 is_a: DOID:0060086 ! female reproductive organ benign neoplasm is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5391 name: bronchus adenoma synonym: "adenoma of the bronchus" EXACT [] synonym: "bronchial adenoma" EXACT [] xref: NCI:C3494 is_a: DOID:3906 ! bronchial benign neoplasm is_a: DOID:5386 ! lung adenoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:5392 name: acidophil adenoma def: "A benign tumor, usually found in the anterior lobe of the pituitary gland, whose cells stain with acid dyes. Such pituitary tumors may give rise to excessive secretion of growth hormone, resulting in gigantism or acromegaly. A specific type of acidophil adenoma may give rise to nonpuerperal galactorrhea. (Dorland, 27th ed)" [MESH:D000239] synonym: "acidophil adenomas" EXACT [] synonym: "Acidophilic Adenoma" EXACT [] synonym: "Acidophilic Adenomas" EXACT [] synonym: "EFO:1000791" EXACT [] synonym: "Eosinophil Adenoma" EXACT [] synonym: "Eosinophil Adenomas" EXACT [] synonym: "Eosinophilic Adenoma" EXACT [] synonym: "eosinophilic adenomas" EXACT [] xref: EFO:1000791 xref: ICDO:8280/0 xref: MESH:D000239 xref: NCI:C6780 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:3829 ! pituitary adenoma is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:5393 name: brain angioma xref: NCI:C7739 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:2517 ! intracranial structure hemangioma is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:5394 name: prolactinoma def: "A pituitary adenoma which secretes PROLACTIN, leading to HYPERPROLACTINEMIA. Clinical manifestations include AMENORRHEA; GALACTORRHEA; IMPOTENCE; HEADACHE; visual disturbances; and CEREBROSPINAL FLUID RHINORRHEA." [MESH:D015175] synonym: "EFO:1000496" EXACT [] synonym: "lactotroph adenoma" EXACT [] synonym: "lactotroph adenomas" EXACT [] synonym: "Macroprolactinoma" EXACT [] synonym: "macroprolactinomas" EXACT [] synonym: "Microprolactinoma" EXACT [] synonym: "microprolactinomas" EXACT [] synonym: "PRL Secreting Pituitary Adenoma" EXACT [] synonym: "PRL-Secreting Pituitary Adenomas" EXACT [] synonym: "Prolactinoma, Familial" EXACT [] synonym: "prolactinoma of pituitary gland" EXACT [] synonym: "prolactinomas" EXACT [] synonym: "prolactin-producing pituitary adenoma" EXACT [] synonym: "prolactin-producing pituitary adenomas" EXACT [] synonym: "prolactin secreting pituitary adenoma" EXACT [] xref: EFO:1000496 xref: GARD:4508 xref: MESH:D015175 xref: NCI:C3342 is_a: DOID:5395 ! functioning pituitary adenoma [Term] id: DOID:5395 name: functioning pituitary adenoma synonym: "Mixed Somatotroph-Lactotroph Pituitary Gland Adenoma" NARROW [] synonym: "secretory adenoma of the pituitary gland" EXACT [] xref: EFO:1000383 xref: NCI:C8388 is_a: DOID:3829 ! pituitary adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5396 name: prolactin producing pituitary tumor def: "A pituitary carcinoma that is located_in the anterior lobe of the pituitary gland that produces prolactin. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.08e&ns=NCI_Thesaurus&code=C7910 "DO"] synonym: "malignant Prolactinoma" EXACT [] synonym: "malignant prolactin producing neoplasm of pituitary gland" EXACT [] synonym: "Prolactin-Producing Pituitary Gland Carcinoma" EXACT [] synonym: "prolactin producing pituitary tumour" EXACT [] synonym: "prolactin secreting tumor of pituitary" EXACT [] synonym: "Prolactin Secreting tumour of Pituitary" EXACT [] xref: EFO:1000497 xref: NCI:C5962 is_a: DOID:4916 ! pituitary carcinoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5398 name: lipoadenoma def: "An adenoma that is composed_of epithelial cells admixed with adipose tissue cells. (DO)" [http://en.wiktionary.org/wiki/lipoadenoma "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4159 "DO"] xref: ICDO:8324/0 xref: NCI:C4159 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:3315 ! lipoma is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:540 name: strabismus alt_id: MIM:185100 def: "A hyperopia that is characterized by eyes that do not properly align with each other when looking at an object. (DO)" [https://en.wikipedia.org/wiki/Strabismus "DO"] synonym: "Comitant Strabismus" EXACT [] synonym: "CONGENITAL STRABISMUS" NARROW [] synonym: "Convergent Comitant Strabismus" EXACT [] synonym: "Noncomitant Strabismus" EXACT [] synonym: "Phoria" EXACT [] synonym: "phorias" EXACT [] synonym: "squint" EXACT [] synonym: "STBMS1" RELATED [] synonym: "strabismus, susceptibility to" RELATED [] synonym: "strabismus, susceptibility to, 1" RELATED [] xref: ICD10CM:H50.8 xref: ICD9CM:378.7 xref: MESH:D013285 is_a: DOID:1279 ! ocular motility disease is_a: DOID:9834 ! hyperopia [Term] id: DOID:5401 name: water-clear cell adenoma def: "An adenoma that derives_from epithelial cells which have clear cytoplasm. (DO)" [https://www.pathologyoutlines.com/topic/parathyroidwaterclearadenoma.html "DO"] xref: ICDO:8322/0 xref: NCI:C4155 is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5402 name: vaginal adenoma def: "A vaginal benign neoplasm that has_material_basis_in epithelial tissue of glandular origin. (DO)" [https://en.wikipedia.org/wiki/Adenoma "DO"] xref: NCI:C40256 is_a: DOID:0060114 ! vaginal benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:5403 name: microcystic adenoma def: "A pancreatic cystadenoma that is characterized by innumerable small cysts lined by bland clear cells. (DO)" [http://surgpathcriteria.stanford.edu/pancreas/serous_microcystic_adenoma/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/15559952 "DO"] synonym: "microcystic adenomas" EXACT [] xref: ICDO:8202/0 xref: NCI:C3685 is_a: DOID:3918 ! pancreatic cystadenoma is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5408 name: Paget's disease of bone alt_id: MESH:C538098 def: "A bone formation disease that has_material_basis_in hyperactive osteoclast which results_in abnormal osteoblast bone formation located_in skull, located_in pelvis, located_in vertebral column, located_in set of limbs. (DO)" [http://en.wikipedia.org/wiki/Paget%27s_disease_of_bone "DO", http://orthoinfo.aaos.org/topic.cfm?topic=A00076 "DO", http://www.mayoclinic.com/health/pagets-disease-of-bone/DS00485 "DO", http://www.nlm.nih.gov/medlineplus/pagetsdiseaseofbone.html "DO", https://pubmed.ncbi.nlm.nih.gov/37180975/ "DO"] synonym: "familial Paget's disease of bone" RELATED [] synonym: "Osseous Paget's Disease" EXACT [] synonym: "Osteitis Deformans" EXACT [] synonym: "Paget's bone disease" EXACT [] synonym: "Paget disease, bone" EXACT [] synonym: "Paget disease of bone" EXACT [] synonym: "Paget disease of bone 1" RELATED [] synonym: "Paget disease of bone, familial" EXACT [] synonym: "Paget disease of bone, type 1" RELATED [] synonym: "Pagets bone disease" EXACT [] xref: EFO:0004261 xref: GARD:8615 xref: ICD10CM:M88 xref: MESH:D010001 xref: MIM:PS167250 xref: NCI:C3292 xref: ORDO:280110 is_a: DOID:205 ! hyperostosis [Term] id: DOID:5409 name: lung small cell carcinoma alt_id: DOID:0050875 def: "A lung carcinoma that has_material_basis_in primitive-appearing cells that are smaller than normal cells and is located_in the lung. (DO)" [http://en.wikipedia.org/wiki/Small-cell_carcinoma "DO"] synonym: "EFO:0000702" EXACT [] synonym: "oat cell carcinoma of lung" EXACT [] synonym: "oat cell lung cancer" EXACT [] synonym: "small cell cancer of the lung" EXACT [] synonym: "small cell carcinoma of lung" EXACT [] synonym: "small cell lung cancer" EXACT [] synonym: "small cell neuroendocrine carcinoma" EXACT [] synonym: "small cell neuroendocrine carcinoma of lung" EXACT [] xref: EFO:0000702 xref: MESH:D055752 xref: NCI:C188988 xref: NCI:C4917 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:1800 ! neuroendocrine carcinoma is_a: DOID:3904 ! bronchus carcinoma is_a: DOID:3905 ! lung carcinoma [Term] id: DOID:5410 name: pulmonary neuroendocrine tumor synonym: "EFO:0005220" EXACT [] xref: EFO:0005220 xref: NCI:C5670 is_a: DOID:1324 ! lung cancer created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:5411 name: lung oat cell carcinoma synonym: "EFO:0000702" EXACT [] synonym: "poorly differentiated endocrine neoplasm" EXACT [] xref: EFO:0000702 xref: NCI:C3915 is_a: DOID:5409 ! lung small cell carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5414 name: lung occult small cell carcinoma synonym: "occult small cell carcinoma of lung" EXACT [] synonym: "occult small cell carcinoma of the lung" EXACT [] xref: NCI:C6683 is_a: DOID:5409 ! lung small cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:5418 name: schizoaffective disorder alt_id: RDO:9003378 def: "A psychotic disorder that is characterized by recurring episodes of mood fluctuations and a loss of contact with reality. (DO)" [http://en.wikipedia.org/wiki/Schizoaffective_disorder "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000930.htm "DO"] synonym: "schizoaffective disorders" EXACT [] xref: EFO:0005411 xref: ICD10CM:F25 xref: ICD9CM:295.7 xref: NCI:C94378 is_a: DOID:2468 ! psychotic disorder is_a: DOID:9006501 ! Psychotic Affective Disorders created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5419 name: schizophrenia def: "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness. (DO)" [http://en.wikipedia.org/wiki/Schizophrenia "DO"] synonym: "CATECHOL-O-METHYLTRANSFERASE POLYMORPHISM" RELATED [] synonym: "dementia praecox" EXACT [] synonym: "schizophrenia-1" EXACT [] synonym: "schizophrenias" EXACT [] synonym: "SCHIZOPHRENIA SUSCEPTIBILITY LOCUS, CHROMOSOME 1p-RELATED" EXACT [] synonym: "Schizophrenia, Susceptibility To" RELATED [] synonym: "schizophrenia with or without an affective disorder" EXACT [] synonym: "schizophrenic disorder" EXACT [] synonym: "schizophrenic disorders" EXACT [] synonym: "SCZD" EXACT [] xref: EFO:0000692 xref: ICD10CM:F20 xref: ICD9CM:295 xref: MESH:D012559 xref: MIM:181500 xref: MONDO:0005090 xref: NCI:C3362 xref: ORDO:3140 is_a: DOID:2468 ! psychotic disorder [Term] id: DOID:5421 name: lung combined type small cell carcinoma def: "A lung small cell carcinoma that is characterized as a multiphasic lung cancer comprised of a mixture of small cell and non-small cell lung carcinoma cells. (DO)" [http://en.wikipedia.org/wiki/Combined_small-cell_lung_carcinoma "DO"] synonym: "combined small cell carcinoma of the lung" EXACT [] synonym: "combined type small cell carcinoma of lung" EXACT [] xref: NCI:C9137 is_a: DOID:5409 ! lung small cell carcinoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:5425 name: ovarian hyperstimulation syndrome def: "An ovarian disease that is characterized by cystic enlargement of the ovaries and a fluid shift from the intravascular to the third space and has_symptom abdominal pain, has_symptom nausea and has_symptom vomiting. This disease is an iatrogenic complication of assisted reproduction technology. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3205536/ "DO"] synonym: "OHSS" EXACT [] synonym: "ovarian hyperstimulation syndrome, familial gestational spontaneous" EXACT [] synonym: "ovarian hyperstimulation syndromes" EXACT [] synonym: "ovarian response to FSH stimulation" EXACT [] synonym: "secondary Meig's syndrome" EXACT [] xref: MESH:D016471 xref: MIM:276400 xref: MIM:608115 xref: MONDO:0011972 is_a: DOID:1100 ! ovarian disease is_a: DOID:225 ! syndrome [Term] id: DOID:5426 name: primary ovarian insufficiency def: "An ovarian disease where ovaries do not produce estrogen despite high levels of circulating gonadotropins in women under 40. (DO)" [http://en.wikipedia.org/wiki/Premature_ovarian_failure "DO", https://pubmed.ncbi.nlm.nih.gov/27861765/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7477642/ "DO"] synonym: "fragile X associated primary ovarian insufficiency" NARROW [] synonym: "fragile X premature ovarian failure" NARROW [] synonym: "gonadotropin resistant ovary syndrome" EXACT [] synonym: "POF" EXACT [] synonym: "POFX" NARROW [] synonym: "premature ovarian failure" EXACT [] synonym: "premature ovarian insufficiency" EXACT [] synonym: "resistant ovary syndrome" EXACT [] synonym: "X-linked hypergonadotropic ovarian failure" NARROW [] synonym: "X-linked premature ovarian failure" NARROW [] xref: EFO:0004266 xref: ICD10CM:E28.3 xref: MESH:D016649 xref: MIM:PS311360 xref: NCI:C113352 xref: ORDO:619 is_a: DOID:9006101 ! Primary Ovarian Failure [Term] id: DOID:5427 name: urinary bladder villous adenoma synonym: "villous adenoma of urinary bladder" EXACT [] xref: NCI:C7414 is_a: DOID:0050623 ! bladder benign neoplasm is_a: DOID:0050869 ! villous adenoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:5429 name: bladder flat intraepithelial lesion synonym: "EFO:1000126" EXACT [] synonym: "flat intraepithelial lesion of the urinary bladder" EXACT [] xref: EFO:1000126 xref: NCI:C37266 xref: RDO:9005053 is_a: DOID:0050623 ! bladder benign neoplasm created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:543 name: dystonia alt_id: MESH:D020821 def: "A movement disease that is characterized by involuntary muscle contractions causing repetitive or twisting movements. (DO)" [https://rarediseases.org/rare-diseases/dystonia/ "DO", https://www.mayoclinic.org/diseases-conditions/dystonia/symptoms-causes/syc-20350480 "DO"] synonym: "adult-onset dystonia" EXACT [] synonym: "adult onset dystonias" EXACT [] synonym: "adult onset idiopathic focal dystonias" EXACT [] synonym: "adult onset idiopathic torsion dystonias" EXACT [] synonym: "autosomal dominant familial dystonia" EXACT [] synonym: "Autosomal Recessive Familial Dystonia" EXACT [] synonym: "Childhood Onset Dystonia" EXACT [] synonym: "childhood onset dystonias" EXACT [] synonym: "diurnal dystonia" EXACT [] synonym: "dystonia 1" NARROW [] synonym: "Dystonia 1, torsion, modifier of" RELATED [] synonym: "Dystonia Disorder" EXACT [] synonym: "dystonia disorders" EXACT [] synonym: "dystonic disease" EXACT [] synonym: "Dystonic Disorder" EXACT [] synonym: "Dystonic Disorders" EXACT [] synonym: "Familial Dystonia" EXACT [] synonym: "Familial Dystonias" EXACT [] synonym: "Hereditary Dystonia" EXACT [] synonym: "Hereditary Dystonias" EXACT [] synonym: "Idiopathic Familial Dystonia" EXACT [] synonym: "Idiopathic Familial Dystonias" EXACT [] synonym: "Limb Dystonia" EXACT [] synonym: "Muscle Dystonia" EXACT [] synonym: "paroxysmal dystonia" EXACT [] synonym: "Primary Dystonia" EXACT [] synonym: "Primary Dystonias" EXACT [] synonym: "Pseudodystonia" EXACT [] synonym: "Pseudodystonias" EXACT [] synonym: "Psychogenic Dystonia" EXACT [] synonym: "Psychogenic Dystonias" EXACT [] synonym: "regression of motor development with severe dystonia and corresponding basal ganglia lesions" NARROW [] synonym: "secondary dystonia" EXACT [] synonym: "secondary dystonias" EXACT [] synonym: "sporadic dystonia" EXACT [] synonym: "sporadic dystonias" EXACT [] synonym: "TSPOAP1-RELATED DYSTONIA" NARROW [] synonym: "writer's cramp" EXACT [] synonym: "writer cramp" EXACT [] synonym: "writers cramp" EXACT [] xref: ICD10CM:G24 xref: MESH:D004421 xref: MIM:PS128100 xref: MIM:PS128200 xref: NCI:C34563 is_a: DOID:480 ! movement disease is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:5432 name: bladder papillary transitional cell neoplasm synonym: "urinary bladder papillary urothelial neoplasm" EXACT [] xref: NCI:C39857 is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5433 name: urinary tract papillary transitional cell benign neoplasm synonym: "inverted papilloma of urinary tract" EXACT [] synonym: "papillary transitional cell neoplasm of the urinary tract" EXACT [] synonym: "urinary tract inverted papilloma" EXACT [] synonym: "Urothelial Dysplasia" NARROW [] xref: EFO:1000611 xref: NCI:C27883 xref: NCI:C6192 is_a: DOID:4630 ! inverted transitional papilloma is_a: DOID:731 ! urinary system benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5434 name: scrapie def: "A fatal disease of the nervous system in sheep and goats, characterized by pruritus, debility, and locomotor incoordination. It is caused by proteinaceous infectious particles called PRIONS." [MESH:D012608] synonym: "Rida" EXACT [] xref: EFO:1001168 xref: MESH:D012608 is_a: DOID:649 ! prion disease is_a: DOID:9006097 ! Sheep Diseases [Term] id: DOID:5435 name: variant Creutzfeldt-Jakob disease def: "A transmissible spongiform encephalopathy of cattle associated with abnormal prion proteins in the brain. Affected animals develop excitability and salivation followed by ATAXIA. This disorder has been associated with consumption of SCRAPIE infected ruminant derived protein. This condition may be transmitted to humans, where it is referred to as variant or new variant CREUTZFELDT-JAKOB SYNDROME. (Vet Rec 1998 Jul 25;143(41):101-5)" [MESH:D016643] synonym: "Bovine Spongiform Encephalitis" EXACT [] synonym: "bovine spongiform encephalopathy" EXACT [] synonym: "BSE (Bovine Spongiform Encephalopathy)" EXACT [] synonym: "BSEs (Bovine Spongiform Encephalopathy)" EXACT [] synonym: "Mad Cow Disease" EXACT [] synonym: "Mad Cow Diseases" EXACT [] synonym: "variant CREUTZFELDT-JAKOB SYNDROME" EXACT [] xref: EFO:0004597 xref: EFO:1001233 xref: MESH:D016643 is_a: DOID:649 ! prion disease is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:5437 name: intrahepatic bile duct adenoma def: "A bile duct adenoma located_in an intrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26191317/ "DO", https://pubmed.ncbi.nlm.nih.gov/31149539/ "DO", https://pubmed.ncbi.nlm.nih.gov/31798791/ "DO"] synonym: "adenoma of intrahepatic bile duct" EXACT [] synonym: "adenoma of the intrahepatic bile duct" EXACT [] xref: NCI:C7126 is_a: DOID:5381 ! bile duct adenoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5438 name: extrahepatic bile duct adenoma def: "A bile duct adenoma that is composed_of papillary, tubular, or combined tubulopapillary structures lined by dysplastic epithelium. (DO)" [http://www.joplink.net/prev/200803/08.html "DO"] synonym: "adenoma of extrahepatic bile duct" EXACT [] synonym: "adenoma of the extrahepatic bile duct" EXACT [] xref: NCI:C5857 is_a: DOID:5381 ! bile duct adenoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5439 name: papillary hidradenoma synonym: "MESH:D000074009" EXACT [] xref: ICDO:8405/0 xref: NCI:C4171 is_a: DOID:3896 ! hidradenoma [Term] id: DOID:5442 name: eccrine acrospiroma def: "A rare cutaneous tumor of eccrine sweat gland origin. It is most commonly found on the extremities and is usually benign. There is no indication that heredity or external agents cause these tumors." [MESH:D018250] synonym: "acrospiroma" EXACT [] synonym: "acrospiromas" EXACT [] synonym: "clear cell hidradrenoma" EXACT [] synonym: "clear-cell hidradrenomas" EXACT [] synonym: "eccrine acrospiromas" EXACT [] synonym: "eccrine hidradenoma" EXACT [] synonym: "eccrine hidradenoma of skin" EXACT [] synonym: "nodular hidradrenoma" EXACT [] synonym: "nodular hidradrenomas" EXACT [] synonym: "solid cystic hidradenoma" EXACT [] xref: EFO:1000912 xref: MESH:D018250 xref: MONDO:0006738 xref: NCI:C7568 is_a: DOID:173 ! eccrine sweat gland neoplasm is_a: DOID:5443 ! clear cell hidradenoma [Term] id: DOID:5443 name: clear cell hidradenoma synonym: "clear cell myoepithelioma" EXACT [] xref: NCI:C7567 is_a: DOID:3896 ! hidradenoma [Term] id: DOID:5444 name: spiradenoma synonym: "benign eccrine spiradenoma" EXACT [] synonym: "Eccrine spiradenoma" EXACT [SNOMEDCT_2005_07_31:4977000] synonym: "Eccrine spiradenoma of skin" EXACT [SNOMEDCT_2005_07_31:403938001] xref: ICDO:8403/0 xref: NCI:C4170 xref: RDO:9004534 is_a: DOID:5876 ! apocrine sweat gland neoplasm created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5445 name: syringocystadenoma papilliferum synonym: "EFO:1000558" EXACT [] synonym: "papillary syringadenoma" EXACT [] xref: EFO:1000558 xref: GARD:5100 xref: ICDO:8406/0 xref: NCI:C4172 is_a: DOID:5876 ! apocrine sweat gland neoplasm created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5446 name: eccrine papillary adenoma def: "A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time. (DO)" [http://pubs.sciepub.com/ajmcr/4/9/3/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29582790 "DO"] synonym: "eccrine papillary adenoma of skin" EXACT [] xref: GARD:10463 xref: ICDO:8408/0 xref: NCI:C4173 is_a: DOID:173 ! eccrine sweat gland neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5453 name: pulmonary venoocclusive disease def: "A pulmonary hypertension that is characterized by pulmonary venous constriction or occlusion, resulting in pulmonary hypertension. (DO)" [https://medlineplus.gov/genetics/condition/pulmonary-veno-occlusive-disease/ "DO", https://pubmed.ncbi.nlm.nih.gov/27009171/ "DO", https://pubmed.ncbi.nlm.nih.gov/28118962/ "DO", https://pubmed.ncbi.nlm.nih.gov/32252933/ "DO", MESH:D011668] comment: OMIM has split this term into two subtypes. (DO) synonym: "pulmonary veno-occlusive disease" EXACT [] synonym: "pulmonary veno-occlusive diseases" EXACT [] synonym: "pulmonary venoocclusive diseases" EXACT [] synonym: "PVOD" EXACT [] xref: GARD:10153 xref: MESH:D011668 xref: MIM:PS265450 xref: NCI:C85039 xref: ORDO:31837 is_a: DOID:6432 ! pulmonary hypertension [Term] id: DOID:5457 name: laryngeal neuroendocrine tumor synonym: "laryngeal neuroendocrine tumour" EXACT [] synonym: "neuroendocrine tumor of larynx" EXACT [] synonym: "neuroendocrine tumour of larynx" EXACT [] xref: NCI:C6023 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:2596 ! larynx cancer is_a: DOID:2598 ! laryngeal benign neoplasm created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5463 name: cochlear disease def: "Pathological processes of the snail-like structure (COCHLEA) of the inner ear (LABYRINTH) which can involve its nervous tissue, blood vessels, or fluid (ENDOLYMPH)." [MESH:D015834] synonym: "cochlear diseases" EXACT [] xref: MESH:D015834 xref: RDO:0006926 is_a: DOID:2952 ! inner ear disease [Term] id: DOID:5465 name: conjunctival intraepithelial neoplasm def: "A pre-malignant neoplasm that is characterized by abnormal growth of dysplastic squamous epithelial cells on the surface of the eye that arises from the conjunctiva that is restricted within the epithelium. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1772848/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/27584160 "DO"] synonym: "intraepithelial neoplasia of conjunctiva" EXACT [] xref: NCI:C6120 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:9008245 ! Conjunctival Neoplasms created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5467 name: conjunctival cancer synonym: "conjunctival tumor" EXACT [] synonym: "malignant conjunctival tumor" EXACT [] synonym: "malignant neoplasm of conjunctiva" EXACT [] synonym: "malignant tumor of conjunctiva" EXACT [] synonym: "neoplasm of conjunctiva" EXACT [] xref: ICD10CM:C69.0 xref: ICD9CM:190.3 xref: NCI:C2961 xref: NCI:C3564 is_a: DOID:2174 ! ocular cancer is_a: DOID:9008245 ! Conjunctival Neoplasms created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:5468 name: biliary papillomatosis def: "A biliary tract benign neoplasm characterized by multiple papillary tumors in the intrahepatic and/or extrahepatic biliary tree. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21988050 "DO"] synonym: "bile duct papillomatosis" EXACT [] xref: NCI:C65198 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:2615 ! papilloma is_a: DOID:9002936 ! Bile Duct Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5469 name: biliary tract intraductal papillary mucinous neoplasm xref: NCI:C37215 xref: RDO:9003853 is_a: DOID:0050625 ! biliary tract benign neoplasm created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5474 name: ovarian serous adenofibroma def: "An ovarian benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by the presence of serous fluid. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26881611 "DO"] synonym: "EFO:1000428" EXACT [] xref: EFO:1000428 xref: NCI:C40031 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:5475 name: uterine corpus adenofibroma def: "An uterine benign neoplasm that has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://jcp.bmj.com/content/63/4/377.1.short "DO"] synonym: "adenofibroma of corpus uteri" EXACT [] synonym: "adenofibroma of uterine corpus" EXACT [] xref: NCI:C6337 xref: RDO:9005003 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:2683 ! adenofibroma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5476 name: cervical adenofibroma def: "A cervical benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12410376 "DO"] xref: NCI:C40230 is_a: DOID:0060110 ! cervical benign neoplasm [Term] id: DOID:5477 name: clear cell adenofibroma def: "An adenofibroma that is characterized by the presence of cells with clear cytoplasm. (DO)" [http://www.jcancer.org/v02p0094.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/24721826 "DO"] synonym: "clear cell adenofibromas" EXACT [] xref: ICDO:8313/0 is_a: DOID:2683 ! adenofibroma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5478 name: fallopian tube adenofibroma def: "A fallopian tube benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4246679/ "DO"] xref: NCI:C40113 xref: RDO:9005005 is_a: DOID:0060111 ! fallopian tube benign neoplasm is_a: DOID:2683 ! adenofibroma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5479 name: papillary adenofibroma def: "An adenofibroma that is characterized by finger-like projections on histology. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1595599 "DO"] xref: NCI:C8986 is_a: DOID:2683 ! adenofibroma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5480 name: ovarian endometrioid adenofibroma def: "An ovarian benign neoplasm that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands and is characterized by endometrial tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9631607 "DO"] xref: NCI:C27287 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:5482 name: cystadenofibroma def: "An ovarian benign neoplasm that is composed_of epithelial ovarian tissue. (DO)" [http://www.ajronline.org/cgi/content/full/182/5/1259 "DO"] synonym: "benign clear cell adenofibroma" EXACT [] synonym: "benign cystadenofibroma" EXACT [] synonym: "benign cystadenofibromas" EXACT [] synonym: "borderline clear cell adenofibroma" EXACT [] synonym: "borderline cystadenofibroma" EXACT [] synonym: "borderline cystadenofibromas" EXACT [] synonym: "cystadenofibromas" EXACT [] xref: MESH:D062625 xref: NCI:C8985 xref: NCI:C8987 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:2683 ! adenofibroma is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms [Term] id: DOID:5484 name: fibrous synovial sarcoma synonym: "fibrous sarcoma of synovium" EXACT [] xref: NCI:C6533 is_a: DOID:5485 ! synovial sarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5485 name: synovial sarcoma alt_id: MIM:300813 def: "A synovium cancer which develops in the synovial membrane of the joints. (DO)" [http://en.wikipedia.org/wiki/Synovial_sarcoma "DO", http://www.cancer.gov/dictionary?cdrid=44626 "DO"] synonym: "EFO:0001376" EXACT [] synonym: "primary synovial sarcoma" NARROW [] synonym: "synovial sarcomas" EXACT [] synonym: "Synovioma" EXACT [] synonym: "synoviomas" EXACT [] xref: EFO:0001376 xref: EFO:1000019 xref: GARD:7721 xref: ICDO:9040/3 xref: MESH:D013584 xref: NCI:C3400 is_a: DOID:1115 ! sarcoma is_a: DOID:2706 ! synovium cancer is_a: DOID:9003944 ! Connective Tissue Neoplasms [Term] id: DOID:5487 name: spindle cell synovial sarcoma synonym: "monophasic fibrous synovial sarcoma" EXACT [] synonym: "synovial sarcoma with spindle cell components" EXACT [] xref: NCI:C4277 is_a: DOID:4235 ! spindle cell sarcoma is_a: DOID:5485 ! synovial sarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5488 name: mediastinum synovial sarcoma def: "A synovial sarcoma that is located_in the mediastinum. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2001131/ "DO"] synonym: "synovial sarcoma of mediastinum" EXACT [] xref: NCI:C6618 is_a: DOID:4050 ! mediastinum sarcoma is_a: DOID:5485 ! synovial sarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5492 name: biphasic synovial sarcoma synonym: "biphasic sarcoma of synovium" EXACT [] xref: NCI:C4279 is_a: DOID:5485 ! synovial sarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5494 name: epithelioid cell synovial sarcoma synonym: "epithelioid synovial sarcoma" EXACT [] xref: NCI:C4278 is_a: DOID:5485 ! synovial sarcoma is_a: DOID:6193 ! epithelioid sarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5495 name: monophasic synovial sarcoma synonym: "EFO:0000595" EXACT [] synonym: "monophasic sarcoma of synovium" EXACT [] xref: EFO:0000595 xref: NCI:C6534 is_a: DOID:5485 ! synovial sarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5500 name: cellular ependymoma xref: NCI:C4713 xref: NCI:C4714 xref: RDO:9004181 is_a: DOID:4844 ! benign ependymoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5501 name: Pediculus humanus capitis infestation def: "A lice infestation that involves colonization of the hair and skin by the parasitic insect Pediculus humanus capitis, which feeds on blood several times daily and resides close to the scalp to maintain its body temperature. The symptoms include tickling feeling of something moving in the hair, itching, caused by an allergic reaction to louse saliva, and irritability. (DO)" [http://en.wikipedia.org/wiki/Head-louse_infestation "DO", http://www.dpd.cdc.gov/dpdx/HTML/HeadLice.htm "DO"] synonym: "head louse infestation" EXACT [] synonym: "Pediculosis capitis" EXACT [] synonym: "Pediculus capitis" EXACT [] synonym: "Pediculus capitis infestation" EXACT [] xref: ICD10CM:B85.0 xref: ICD9CM:132.0 is_a: DOID:5502 ! lice infestation created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:5502 name: lice infestation def: "A parasitic ectoparasitic infectious disease that involves infestation of lice, which are blood-feeding ectoparasitic insects of the order Phthiraptera. (DO)" [http://en.wikipedia.org/wiki/Pediculosis "DO"] synonym: "infestation by Pediculus" EXACT [] synonym: "lice infestations" EXACT [] synonym: "louse infestation" EXACT [] synonym: "mixed pediculosis" EXACT [] synonym: "mixed pediculosis infestation" EXACT [] synonym: "pediculoses" EXACT [] synonym: "pediculosis" EXACT [] synonym: "pediculosis + lice" EXACT [] synonym: "pediculosis and phthirus infection" EXACT [] synonym: "pediculosis and phthirus infections" EXACT [] synonym: "pediculosis and phthirus infestation" EXACT [] xref: ICD10CM:B85.2 xref: ICD9CM:132.9 xref: MESH:D010373 xref: NCI:C128401 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:5503 name: spinal cord ependymoma def: "A high grade ependymoma that has_material_basis_in cells linking the spinal cord central canal. (DO)" [http://www.cancer.gov/dictionary?CdrID=46432 "DO"] synonym: "ependymal neoplasm of the spinal cord" EXACT [] synonym: "Spinal ependymoma" EXACT [] xref: NCI:C3875 is_a: DOID:3185 ! spinal cord glioma is_a: DOID:5074 ! high grade ependymoma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:5504 name: tanycytic ependymoma xref: NCI:C6903 xref: RDO:9004177 is_a: DOID:4844 ! benign ependymoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5505 name: papillary ependymoma xref: ICDO:9393/3 xref: NCI:C4319 xref: RDO:9004598 is_a: DOID:4844 ! benign ependymoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5507 name: clear cell ependymoma xref: RDO:9004183 is_a: DOID:4844 ! benign ependymoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5508 name: brain stem ependymoma def: "A high grade ependymoma that is characterized by abnormal growth of the neuroepithelial lining of the ventricular system, has_material_basis_in abnormally proliferating cells derives_from ependymal cells. (DO)" [https://en.wikipedia.org/wiki/Ependyma "DO", https://en.wikipedia.org/wiki/Ependymoma "DO"] synonym: "ependymoma of the brainstem" EXACT [] xref: NCI:C5098 is_a: DOID:3185 ! spinal cord glioma is_a: DOID:4202 ! brain stem glioma is_a: DOID:5074 ! high grade ependymoma [Term] id: DOID:5509 name: childhood ependymoma synonym: "adult intracranial ependymoma" EXACT [] synonym: "familial ependymoma" EXACT [] synonym: "pediatric ependymoma" EXACT [] xref: MESH:C531673 xref: NCI:C8578 is_a: DOID:5074 ! high grade ependymoma [Term] id: DOID:551 name: toxic pneumonitis alt_id: DOID:554 def: "A pneumonia that is an acute inflammation of the lungs induced by inhalation of metal fumes or toxic gases and vapors. It is a sentinel health event (occupational) associated with exposure to ammonia (refrigeration, fertilizer, and oil refining industries), chlorine (alkali and bleach industries), nitrogen oxides (silo fillers, arc welders, and nitric acid industry), sulfur dioxide (paper, refrigeration, and oil refining industries), cadmium (processors and cadmium smelters), trimellitic anhydride (plastics and organic chemical synthesis), and vanadium pentoxide (boilermakers). The two types of pulmonary agents are central and peripheral. Central pulmonary agents, for example, ammonia, are water soluble irritants that injure the upper airways. Peripheral pulmonary agents, for example, phosgene, NOx, and PFIB, are slightly water soluble irritants that injure the alveolar-capillary membranes. Chlorine has both central and peripheral effects. (DO)" [https://hazmap.nlm.nih.gov/category-details?id=306&table=tbldiseases "DO"] synonym: "acute chemical fume pulmonary edema" EXACT [] synonym: "acute chemical pulmonary edema" EXACT [] xref: ICD9CM:506.9 is_a: DOID:552 ! pneumonia [Term] id: DOID:5510 name: pineal dysgerminoma xref: NCI:C7169 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm [Term] id: DOID:5511 name: dysgerminoma of ovary def: "A dysgerminoma that is located_in the ovary. (DO)" [http://en.wikipedia.org/wiki/Dysgerminoma "DO", http://www.cancer.gov/dictionary?CdrID=672835 "DO"] synonym: "EFO:1000414" EXACT [] synonym: "ovarian dysgerminoma" EXACT [] xref: EFO:1000414 xref: NCI:C8106 is_a: DOID:2156 ! ovarian germ cell cancer is_a: DOID:4441 ! dysgerminoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5513 name: Pediculus humanus corporis infestation def: "A lice infestation that is a cutaneous condition caused by parasitic infestation of body lice Pediculus humanus corporis, which feed on the human blood. Body lice can spread epidemic typhus, trench fever, and louse-borne relapsing fever. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000838.htm "DO"] synonym: "body louse infestation" EXACT [] synonym: "Pediculus corporis" EXACT [] synonym: "Pediculus humanus infestation" EXACT [] xref: ICD10CM:B85.1 xref: ICD9CM:132.1 is_a: DOID:5502 ! lice infestation created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:5514 name: breast squamous cell carcinoma def: "A breast metaplastic carcinoma that arises from squamous epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931217/ "DO"] synonym: "breast primary squamous cell carcinoma" EXACT [] synonym: "EFO:1000053" EXACT [] synonym: "primary squamous cell carcinoma of breast" RELATED [] synonym: "primary squamous cell carcinoma of the breast" EXACT [] synonym: "SCC of breast" EXACT [] synonym: "squamous cell carcinoma of breast" RELATED [] xref: EFO:1000053 xref: NCI:C5177 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4680 ! breast metaplastic carcinoma [Term] id: DOID:5515 name: nasal cavity squamous cell carcinoma def: "A nasal cavity carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "EFO:1000057" EXACT [] synonym: "squamous cell carcinoma of nasal cavity" EXACT [] synonym: "squamous cell carcinoma of the nasal cavity" EXACT [] xref: EFO:1000057 xref: NCI:C8192 is_a: DOID:4931 ! nasal cavity carcinoma is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:5516 name: gastric squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21113875 "DO"] synonym: "EFO:1000278" EXACT [] synonym: "squamous cell carcinoma of stomach" EXACT [] xref: EFO:1000278 xref: NCI:C24234 xref: NCI:C5475 is_a: DOID:5517 ! stomach carcinoma is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:5517 name: stomach carcinoma def: "A stomach cancer that is located_in the stomach. (DO)" [http://en.wikipedia.org/wiki/Stomach_cancer "DO"] synonym: "carcinoma of stomach" EXACT [] synonym: "EFO:0000178" EXACT [] synonym: "gastric carcinoma" EXACT [] synonym: "gastric non-cardia carcinoma" NARROW [] xref: EFO:0000178 xref: EFO:0008502 xref: NCI:C24225 xref: NCI:C4911 is_a: DOID:10534 ! stomach cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:5518 name: penis squamous cell carcinoma alt_id: DOID:8008 def: "A penis carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "epidermoid cell carcinoma of penis" EXACT [] synonym: "squamous cell carcinoma of penis" EXACT [] xref: NCI:C6979 xref: NCI:C7729 xref: RDO:9002247 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3449 ! penis carcinoma [Term] id: DOID:5519 name: colon squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the colon. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10211528 "DO"] synonym: "Colonic Epidermoid carcinoma" EXACT [NCI2004_11_17:C5490] synonym: "Colorectal Squamous Cell Carcinoma" EXACT [] synonym: "squamous cell carcinoma of colon" EXACT [] xref: EFO:1000198 xref: NCI:C5490 xref: RDO:9002373 is_a: DOID:1520 ! colon carcinoma is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:552 name: pneumonia def: "A lung disease that involves lung parenchyma or alveolar inflammation and abnormal alveolar filling with fluid (consolidation and exudation). It results from a variety of causes including infection with bacteria, viruses, fungi or parasites, and chemical or physical injury to the lungs. It is accompanied by fever, chills, cough, and difficulty in breathing. (DO)" [http://en.wikipedia.org/wiki/Pneumonia "DO"] synonym: "acute pneumonia" EXACT [] synonym: "Experimental Lung Inflammation" EXACT [] synonym: "experimental lung inflammations" EXACT [] synonym: "INCREASED SUSCEPTIBILITY TO PNEUMONIA" RELATED [] synonym: "Lobar Pneumonia" EXACT [] synonym: "Lobar Pneumonias" EXACT [] synonym: "Lung Inflammation" EXACT [] synonym: "Lung Inflammations" EXACT [] synonym: "Pneumonias" EXACT [] synonym: "Pneumonitides" EXACT [] synonym: "Pneumonitis" EXACT [] synonym: "Pulmonary Inflammation" EXACT [] synonym: "pulmonary inflammations" EXACT [] xref: EFO:0003106 xref: EFO:1001991 xref: MESH:D011014 xref: NCI:C3333 is_a: DOID:850 ! lung disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:5520 name: head and neck squamous cell carcinoma alt_id: MIM:275355 def: "A head and neck carcinoma that has_material_basis_in squamous cells that line the moist, mucosal surfaces inside the head and neck. (DO)" [http://en.wikipedia.org/wiki/Head_and_neck_cancer#Squamous_cell_carcinoma "DO", http://www.cancer.gov/cancertopics/factsheet/Sites-Types/head-and-neck "DO", http://www.cancer.gov/dictionary?CdrID=597171 "DO"] synonym: "carcinoma of the head and neck" EXACT [] synonym: "EFO:0000181" EXACT [] synonym: "HNSCC" EXACT [] synonym: "LIP AND ORAL CAVITY CARCINOMA" NARROW [] synonym: "SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC" EXACT [] synonym: "squamous cell carcinoma of the head and neck" EXACT [] synonym: "squamous cell carcinomas of head and neck" EXACT [] xref: EFO:0000181 xref: GARD:8503 xref: MESH:D000077195 xref: NCI:C34447 is_a: DOID:1542 ! head and neck carcinoma is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:5521 name: keratinizing squamous cell carcinoma def: "A squamous cell carcinoma that presents as single, isolated cells with bizarre cytoplasmic shapes, intense cytoplasmic eosinophilia, and intensely hyperchromatic, angular nuclei in a background of necrotic and keratinous debris. (DO)" [http://books.google.com/books?id=TQju7e__pRIC&pg=PA1132&lpg=PA1132&dq#v=onepage&q&f=false "DO"] synonym: "EFO:0000559" EXACT [] synonym: "keratinizing epidermoid carcinoma" EXACT [] xref: EFO:0000559 xref: NCI:C4105 is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5522 name: basaloid squamous cell carcinoma def: "A squamous cell carcinoma that has a solid, closely packed growth of cells with hyperchromatic nuclei, scant cytoplasm, small cystic spaces, and foci of necrosis. It has overlying squamous dysplasia, rare foci of overt keratinization, and/or coexistent keratinizing squamous cell carcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19738459 "DO"] synonym: "Basaloid carcinoma" EXACT [] synonym: "EFO:1001940" EXACT [] xref: EFO:1001940 xref: ICDO:8083/3 xref: NCI:C54244 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2513 ! basal cell carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5524 name: adenoid squamous cell carcinoma def: "A squamous cell carcinoma that is characterized by a tubular microscopic pattern and keratinocyte acantholysis. (DO)" [http://en.wikipedia.org/wiki/Adenoid_squamous-cell_carcinoma "DO"] synonym: "acantholytic squamous cell carcinoma" EXACT [] synonym: "adenoacanthoma" EXACT [] synonym: "adenocarcinoma with squamous metaplasia" EXACT [] synonym: "pseudoglandular squamous carcinoma" EXACT [] xref: NCI:C4106 xref: NCI:C4200 is_a: DOID:0050920 ! tonsil squamous cell carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:5525 name: anal squamous cell carcinoma def: "An anal carcinoma that arises near the squamocolumnar junction. (DO)" [http://en.wikipedia.org/wiki/Anal_cancer "DO"] synonym: "EFO:1000081" EXACT [] synonym: "epidermoid anal carcinoma" EXACT [] xref: EFO:1000081 xref: NCI:C9161 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4908 ! anal carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:5526 name: middle ear squamous cell carcinoma def: "A middle ear carcinoma that has_material_basis_in squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] synonym: "EFO:1000378" EXACT [] synonym: "Epidermoid carcinoma of the middle ear" EXACT [] synonym: "squamous cell carcinoma of middle ear" EXACT [] xref: EFO:1000378 xref: NCI:C6086 xref: RDO:9002275 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4893 ! middle ear carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:5527 name: ampulla of Vater squamous cell carcinoma def: "An ampulla of Vater carcinoma that derives_from epithelial squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] xref: NCI:C27417 is_a: DOID:4932 ! ampulla of Vater carcinoma is_a: DOID:5537 ! squamous cell bile duct carcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5528 name: rectum squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the rectum. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25956212 "DO"] synonym: "squamous carcinoma of rectum" EXACT [] synonym: "squamous cell carcinoma of the rectum" EXACT [] xref: NCI:C5554 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:1993 ! rectum cancer is_a: DOID:9002533 ! Rectum Carcinoma [Term] id: DOID:5529 name: lacrimal gland squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the lacrimal gland. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12724709 "DO"] synonym: "epidermoid carcinoma of the lacrimal gland" EXACT [] synonym: "squamous cell carcinoma of lacrimal gland" EXACT [] xref: NCI:C6092 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:293 ! lacrimal gland carcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:5530 name: thymus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the thymus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23235139 "DO"] synonym: "EFO:1000579" EXACT [] synonym: "epidermoid thymic carcinoma" EXACT [] synonym: "Thymic Squamous Cell Carcinoma" EXACT [] xref: EFO:1000579 xref: NCI:C6455 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3284 ! thymic carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5531 name: ovarian squamous cell carcinoma alt_id: DOID:5532 def: "An ovarian carcinoma that derives_from squamous epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25511544 "DO"] synonym: "EFO:1000432" EXACT [] synonym: "ovarian squamous cell neoplasm" EXACT [] synonym: "squamous cell carcinoma of ovary" EXACT [] xref: EFO:1000432 xref: NCI:C40092 xref: NCI:C40093 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:5533 name: endometrial squamous cell carcinoma def: "An endometrial carcinoma that has_material_basis_in squamous cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24615329 "DO"] synonym: "EFO:1000240" EXACT [] synonym: "squamous cell carcinoma of endometrium" EXACT [] xref: EFO:1000240 xref: NCI:C8719 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:2871 ! endometrial carcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:5534 name: renal pelvis squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the renal pelvis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24493112 "DO"] synonym: "epidermoid carcinoma of the kidney pelvis" EXACT [] synonym: "squamous cell carcinoma of renal pelvis" RELATED [] xref: NCI:C7732 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4919 ! renal pelvis carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5535 name: gallbladder squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the gallbladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26236536 "DO"] synonym: "EFO:1000267" EXACT [] synonym: "Epidermoid gallbladder carcinoma" EXACT [NCI2004_11_17:C9170] synonym: "squamous cell carcinoma of the gallbladder" RELATED [] xref: EFO:1000267 xref: NCI:C9170 xref: RDO:9002387 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4948 ! gallbladder carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5536 name: sarcomatoid squamous cell skin carcinoma synonym: "sarcomatoid squamous cell carcinoma" EXACT [] synonym: "spindle cell (sarcomatoid) squamous cell carcinoma" EXACT [] synonym: "spindle cell (sarcomatoid) squamous cell skin carcinoma" EXACT [] synonym: "spindle cell squamous carcinoma of skin" EXACT [] synonym: "spindle cell squamous cell carcinoma" EXACT [] xref: NCI:C27084 xref: NCI:C4666 is_a: DOID:3151 ! skin squamous cell carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5537 name: squamous cell bile duct carcinoma def: "A squamous cell carcinoma that is located_in the bile duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15767732 "DO"] xref: EFO:1000248 xref: NCI:C5777 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4897 ! bile duct carcinoma is_a: DOID:4947 ! cholangiocarcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5538 name: external ear squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the external ear. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2459330/ "DO"] synonym: "Epidermoid carcinoma of the External ear" EXACT [] synonym: "squamous cell carcinoma of external ear" EXACT [] xref: NCI:C6083 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4288 ! external ear carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:5539 name: ureter squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the ureter. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17574059 "DO"] synonym: "ureteral epidermoid carcinoma" EXACT [] xref: NCI:C6154 xref: RDO:9002390 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:4939 ! ureter carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5540 name: fallopian tube squamous cell carcinoma def: "A fallopian tube carcinoma that derives_from squamous epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22707217 "DO"] synonym: "squamous cell carcinoma of the fallopian tube" EXACT [] xref: NCI:C6282 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:1963 ! fallopian tube carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5545 name: anal neuroendocrine tumor synonym: "anal neuroendocrine tumour" EXACT [] synonym: "neuroendocrine tumor of anus" EXACT [] synonym: "neuroendocrine tumour of anus" EXACT [] xref: NCI:C5603 xref: RDO:9004505 is_a: DOID:4119 ! intestinal neuroendocrine benign tumor is_a: DOID:4551 ! anus benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5546 name: femoral cancer def: "A bone cancer that is located_in the femur. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35402113/ "DO"] synonym: "cancer of the femur" EXACT [] xref: EFO:0007270 is_a: DOID:184 ! bone cancer is_a: DOID:9000805 ! Femoral Neoplasms [Term] id: DOID:5547 name: pulmonary artery choriocarcinoma def: "A choriocarcinoma that is located_in the pulmonary artery. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11834687 "DO"] synonym: "syncytioma of pulmonary artery" EXACT [] xref: NCI:C5381 is_a: DOID:1324 ! lung cancer is_a: DOID:175 ! vascular cancer is_a: DOID:3594 ! choriocarcinoma is_a: DOID:60001 ! pulmonary artery disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5550 name: choriocarcinoma of ovary def: "A malignant ovarian germ cell neoplasm that has_material_basis_in trophoblastic cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129104/ "DO"] synonym: "EFO:1000413" EXACT [] synonym: "ovarian choriocarcinoma" EXACT [] xref: EFO:1000413 xref: NCI:C4515 is_a: DOID:2155 ! malignant ovarian germ cell neoplasm is_a: DOID:3594 ! choriocarcinoma [Term] id: DOID:5551 name: choriocarcinoma of the testis def: "A choriocarcinoma that is located_in the testis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24949806 "DO"] synonym: "EFO:1000564" EXACT [] synonym: "testicular choriocarcinoma" EXACT [] xref: EFO:1000564 xref: NCI:C7733 is_a: DOID:3594 ! choriocarcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5553 name: pineal region choriocarcinoma synonym: "pineal choriocarcinoma" EXACT [] xref: NCI:C6759 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm [Term] id: DOID:5556 name: testicular malignant germ cell cancer synonym: "malignant germ cell tumor of testis" EXACT [] xref: NCI:C9063 is_a: DOID:5557 ! testicular germ cell cancer [Term] id: DOID:5557 name: testicular germ cell cancer def: "A testicular cancer that has_material_basis_in germ cells. (DO)" [http://cancergenome.nih.gov/cancersselected/TesticularGermCellCancer "DO", http://www.cancer.gov/dictionary?CdrID=445090 "DO", http://www.cancer.gov/dictionary?CdrID=695185 "DO"] synonym: "EFO:1000566" EXACT [] synonym: "germ cell tumor of testis" EXACT [] synonym: "testicular germ cell neoplasm" RELATED [] xref: EFO:0004281 xref: EFO:1000566 xref: NCI:C8591 xref: ORDO:3636504 is_a: DOID:2994 ! germ cell cancer is_a: DOID:2998 ! testicular cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5559 name: mediastinal cancer def: "A thoracic cancer that is located_in the mediastinum. (DO)" [http://en.wikipedia.org/wiki/Mediastinal "DO"] synonym: "cancer of mediastinum" EXACT [] synonym: "cancer of the mediastinum" EXACT [] synonym: "EFO:0007362" EXACT [] synonym: "mediastinal cancers" EXACT [] synonym: "Mediastinal Malignant Germ Cell Tumor" NARROW [] synonym: "mediastinal tumor" EXACT [] synonym: "mediastinum cancer" EXACT [] synonym: "mediastinum cancers" EXACT [] synonym: "neoplasm of mediastinum" EXACT [] synonym: "tumour of mediastinum" EXACT [] xref: EFO:0007362 xref: EFO:1000366 xref: ICD10CM:C38.3 xref: ICD9CM:164.9 xref: NCI:C3221 xref: NCI:C3549 is_a: DOID:5093 ! thoracic cancer is_a: DOID:9008299 ! Mediastinal Neoplasms created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5560 name: mediastinal mesenchymal tumor synonym: "mediastinal mesenchymal tumour" EXACT [] synonym: "soft tissue tumor of mediastinum" EXACT [] synonym: "soft tissue tumour of mediastinum" EXACT [] xref: NCI:C6637 xref: RDO:9005081 is_a: DOID:5559 ! mediastinal cancer created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:5561 name: gastric teratoma def: "A teratoma that is located_in the stomach or other gastric tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26850909 "DO"] synonym: "teratoma of stomach" EXACT [] xref: NCI:C5259 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:10534 ! stomach cancer is_a: DOID:3307 ! teratoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:5563 name: malignant teratoma def: "A teratoma that is cancerous. (DO)" [https://rarediseases.info.nih.gov/diseases/10646/teratoma-with-malignant-transformation "DO"] synonym: "immature teratoma" EXACT [NCI2004_11_17:C4286] synonym: "immature teratomas" EXACT [] synonym: "malignant extragonadal teratoma" EXACT [NCI2004_11_17:C8884] synonym: "primary malignant extragonadal teratoma" EXACT [] synonym: "Teratoma, malignant, NOS" EXACT [] synonym: "Teratoma with Malignant Transformation" EXACT [] xref: EFO:1000563 xref: NCI:C4286 xref: NCI:C60468 xref: NCI:C8884 xref: RDO:9004020 is_a: DOID:3307 ! teratoma [Term] id: DOID:5564 name: fallopian tube teratoma def: "A fallopian tube germ cell cancer that is an encapsulated tumor with tissue or organ components resembling normal derivatives of all three germ layers. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14127249 "DO"] xref: NCI:C40131 xref: RDO:9004033 is_a: DOID:3307 ! teratoma is_a: DOID:5324 ! fallopian tube germ cell cancer created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5565 name: adult teratoma def: "A benign teratoma that is present in an adult. (DO)" [https://www.sciencedirect.com/science/article/pii/B9780702031311000353 "DO"] xref: NCI:C9013 is_a: DOID:0080602 ! benign teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5566 name: mature teratoma def: "A teratoma that is composed exclusively of mature tissues derived from two or three germ layers. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mature-teratoma "DO"] xref: ICDO:9080/0 xref: NCI:C9015 is_a: DOID:3307 ! teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5567 name: ovarian germ cell teratoma synonym: "EFO:0006463" EXACT [] synonym: "germ cell teratoma of ovary" EXACT [] xref: EFO:0006463 xref: NCI:C8110 is_a: DOID:2156 ! ovarian germ cell cancer is_a: DOID:5117 ! dermoid cyst of ovary [Term] id: DOID:5568 name: mediastinum teratoma def: "A teratoma that is located_in the mediastinum. (DO)" [https://radiopaedia.org/articles/mediastinal-teratoma "DO", https://www.sciencedirect.com/science/article/pii/S1755001709000323 "DO"] synonym: "teratoma of mediastinum" EXACT [] xref: NCI:C6438 is_a: DOID:3307 ! teratoma is_a: DOID:5559 ! mediastinal cancer created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5569 name: malignant syringoma synonym: "microcystic adnexal carcinoma" EXACT [] synonym: "microcystic adnexal carcinoma of skin" EXACT [] synonym: "syringomatous carcinoma" EXACT [] is_a: DOID:4921 ! eccrine sweat gland cancer [Term] id: DOID:557 name: kidney disease alt_id: DOID:11705 alt_id: MIM:602914 alt_id: OMIA:000710 def: "A urinary system disease that is located_in the kidney. (DO)" [http://www.nlm.nih.gov/medlineplus/kidneydiseases.html "DO"] synonym: "impaired renal function disease" EXACT [] synonym: "kidney diseases" EXACT [] synonym: "kidney injury" NARROW [] synonym: "nephropathy" EXACT [] synonym: "renal disease" EXACT [] synonym: "RENAL DYSPLASIA" NARROW [] xref: EFO:0003086 xref: EFO:0009833 xref: ICD10CM:N08 xref: MESH:D007674 xref: NCI:C3149 xref: NCI:C34843 is_a: DOID:18 ! urinary system disease [Term] id: DOID:5570 name: malignant acrospiroma synonym: "anaplastic syringoma" EXACT [] synonym: "eccrine ductal carcinoma" EXACT [] synonym: "eccrine ductal carcinoma of skin" EXACT [] xref: NCI:C43345 is_a: DOID:2095 ! sweat gland cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5572 name: Beckwith-Wiedemann syndrome alt_id: MIM:130650 def: "A syndrome characterized by overgrowth (macrosomia), an increased risk of childhood cancer and congenital malformations. (DO)" [http://en.wikipedia.org/wiki/Beckwith%E2%80%93Wiedemann_syndrome "DO", http://ghr.nlm.nih.gov/condition/beckwith-wiedemann-syndrome "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/52/viewAbstract "DO"] synonym: "AUTOSOMAL DOMINANT KCNQ1-RELATED DISEASE" EXACT [] synonym: "BECKWITH-WIEDEMANN SYNDROME CHROMOSOME REGION" NARROW [] synonym: "BWCR" NARROW [] synonym: "BWS" EXACT [] synonym: "EMG Syndrome" EXACT [] synonym: "EMG Syndromes" EXACT [] synonym: "Exomphalos-Macroglossia-Gigantism Syndrome" EXACT [] synonym: "KCNQ1-RELATED CONDITION" EXACT [] synonym: "WBS" EXACT [] synonym: "Wiedemann-Beckwith syndrome (WBS)" EXACT [] synonym: "Wiedemann Beckwith syndromes (WBS)" EXACT [] xref: GARD:3343 xref: MESH:D001506 xref: MONDO:0007534 xref: NCI:C34415 xref: ORDO:116 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:5574 name: vipoma def: "A tumor that secretes VASOACTIVE INTESTINAL PEPTIDE, a neuropeptide that causes VASODILATION; relaxation of smooth muscles; watery DIARRHEA; HYPOKALEMIA; and HYPOCHLORHYDRIA. Vipomas, derived from the pancreatic ISLET CELLS, generally are malignant and can secrete other hormones. In most cases, Vipomas are located in the PANCREAS but can be found in extrapancreatic sites." [MESH:D003969] synonym: "Diarrheogenic Islet Cell Tumor" EXACT [] synonym: "Diarrheogenic Tumor" EXACT [] synonym: "diarrheogenic tumors" EXACT [] synonym: "malignant vasoactive intestinal peptide-secreting tumor" EXACT [] synonym: "malignant vipoma" EXACT [] synonym: "Vasoactive Intestinal Peptide (VIP) Tumor" EXACT [] synonym: "Vasoactive Intestinal Peptide Producing Tumor" EXACT [] synonym: "vasoactive intestinal peptide-secreting tumor" EXACT [] synonym: "Vipomas" EXACT [] synonym: "Vipoma Syndrome" EXACT [] synonym: "VIP-secreting tumor" EXACT [] synonym: "VIP Secreting Tumor (VIPoma)" EXACT [] synonym: "VIP-Secreting Tumors (VIPoma)" EXACT [] synonym: "Watery Diarrhea, Hypokalemia, and Achlorhydria Syndrome" EXACT [] synonym: "Watery Diarrhea Syndrome" EXACT [] synonym: "Watery Diarrhea with Hypokalemic Alkalosis" EXACT [] synonym: "WDHA" EXACT [] synonym: "WDHA syndrome" EXACT [] synonym: "WDHA syndromes" EXACT [] synonym: "WDHH" EXACT [] xref: EFO:1000622 xref: GARD:5493 xref: ICDO:8155/3 xref: MESH:D003969 xref: NCI:C26749 is_a: DOID:1798 ! pancreatic endocrine carcinoma is_a: DOID:1800 ! neuroendocrine carcinoma [Term] id: DOID:5576 name: inhibited male orgasm synonym: "male Orgasmic disorder" EXACT [NCI2004_11_17:C34959] xref: ICD10CM:F52.32 xref: NCI:C34959 xref: RDO:9004659 is_a: DOID:48 ! male reproductive system disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:5577 name: gastrinoma def: "A neuroendocrine tumor that results_in an overproduction of gastric acid. (DO)" [http://www.cancer.gov/dictionary?CdrID=44239 "DO"] synonym: "gastrin cell tumour" EXACT [] synonym: "Gastrinomas" EXACT [] synonym: "Gastrin Producing Tumor" EXACT [] synonym: "Gastrin-Producing Tumors" EXACT [] synonym: "gastrin secreting tumor" EXACT [] synonym: "malignant gastrinoma" EXACT [] synonym: "Ulcerogenic Islet Cell Tumor" EXACT [] xref: ICDO:8153/3 xref: MESH:D015408 xref: NCI:C3050 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:1798 ! pancreatic endocrine carcinoma [Term] id: DOID:5579 name: gastric gastrinoma synonym: "gastric G-cell gastrin producing tumor" EXACT [] xref: NCI:C27444 is_a: DOID:10534 ! stomach cancer is_a: DOID:5577 ! gastrinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:5580 name: pancreatic gastrinoma synonym: "pancreatic G-cell tumor" EXACT [NCI2004_11_17:C9069] xref: EFO:1000440 xref: NCI:C9069 xref: NCI:C95596 xref: RDO:9004591 is_a: DOID:1799 ! islet cell tumor created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5583 name: lung giant cell carcinoma def: "A lung carcinoma that is located_in large undifferentiated cells. (DO)" [http://medical-dictionary.thefreedictionary.com/giant+cell+carcinoma "DO"] synonym: "EFO:1000332" EXACT [] xref: EFO:1000332 xref: NCI:C3779 xref: NCI:C4452 is_a: DOID:4556 ! lung large cell carcinoma is_a: DOID:9000770 ! Giant Cell Carcinoma [Term] id: DOID:5585 name: Ferguson-Smith tumor alt_id: DOID:9003571 alt_id: MIM:132800 alt_id: RDO:0001611 synonym: "Epithelioma, self-healing squamous, 1" EXACT [] synonym: "ESS1" EXACT [] synonym: "Ferguson-Smith Type epithelioma" EXACT [] synonym: "Keratoacanthoma Familial" EXACT [] synonym: "MSSE" EXACT [] synonym: "multiple self-healing epithelioma of Ferguson-Smith" EXACT [] synonym: "multiple self-healing squamous epithelioma" EXACT [] synonym: "multiple self-healing squamous epithelioma, susceptibility to" EXACT [] xref: MESH:C536150 xref: NCI:C4461 is_a: DOID:3149 ! keratoacanthoma [Term] id: DOID:5587 name: Volkmann contracture def: "A connective tissue disease that develops from prolonged ischemia and results in permanent necrosis, stiffening, and shortening of affected muscles. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26815829 "DO"] synonym: "Ischemic Contracture" EXACT [] synonym: "ischemic contractures" EXACT [] synonym: "Volkmann's Ischemic Contracture" EXACT [] synonym: "Volkmann Contractures" EXACT [] synonym: "Volkmann Ischemic Contracture" EXACT [] synonym: "Volkmanns ischemic contracture" EXACT [] xref: ICD10CM:T79.6 xref: ICD9CM:958.6 xref: MESH:D054061 xref: NCI:C35130 is_a: DOID:65 ! connective tissue disease is_a: DOID:682 ! compartment syndrome is_a: DOID:9006836 ! Contracture [Term] id: DOID:5588 name: lung papillary adenocarcinoma def: "A papillary adenocarcinoma that is located_in the lung. (DO)" [https://radiopaedia.org/articles/mediastinal-teratoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/26766978 "DO"] synonym: "EFO:1000046" EXACT [] synonym: "papillary adenocarcinoma of the lung" EXACT [] xref: EFO:1000046 xref: NCI:C5650 is_a: DOID:3112 ! papillary adenocarcinoma is_a: DOID:3910 ! lung adenocarcinoma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:559 name: acute pyelonephritis xref: ICD10CM:N10 xref: ICD9CM:590.1 xref: NCI:C123215 is_a: DOID:11400 ! pyelonephritis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5590 name: aggressive digital papillary adenocarcinoma def: "A sweat gland carcinoma characterized by predominantly digital location with a high recurrence rate and metastatic potential. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386778/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/28477887 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28495496 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28832985 "DO"] xref: RDO:9004996 is_a: DOID:3112 ! papillary adenocarcinoma is_a: DOID:5667 ! sweat gland carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5591 name: eccrine papillary adenocarcinoma synonym: "Digital papillary adenocarcinoma" EXACT [] xref: RDO:9003022 is_a: DOID:3112 ! papillary adenocarcinoma is_a: DOID:4920 ! eccrine adenocarcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5592 name: breast papillary carcinoma def: "A breast carcinoma that is characterized by the presence of arborescent fibrovascular stalks lined by epithelial cells, grossly forming a circumscribed mass. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3244819/ "DO"] synonym: "breast solid papillary carcinoma" EXACT [] synonym: "papillary carcinoma of breast" EXACT [] synonym: "Papillary carcinoma of the breast" EXACT [] synonym: "solid papillary carcinoma of the breast" EXACT [] xref: NCI:C6870 is_a: DOID:3113 ! papillary carcinoma is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:5593 name: gastric papillary adenocarcinoma def: "A papillary adenocarcinoma that is located_in the stomach. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11984707 "DO"] synonym: "EFO:1000276" EXACT [] synonym: "Papillary adenocarcinoma of stomach" EXACT [] xref: EFO:1000276 xref: NCI:C5472 xref: RDO:9002471 is_a: DOID:3112 ! papillary adenocarcinoma is_a: DOID:3717 ! gastric adenocarcinoma created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:5595 name: papillary thymic adenocarcinoma synonym: "papillary carcinoma of the thymus" EXACT [] xref: NCI:C27937 is_a: DOID:3112 ! papillary adenocarcinoma is_a: DOID:4923 ! thymus adenocarcinoma created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:5597 name: fallopian tube papillary adenocarcinoma def: "A fallopian tube adenocarcinoma that is characterized by a papillary growth pattern. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3425272/ "DO"] synonym: "papillary adenocarcinoma of the fallopian tube" EXACT [] xref: NCI:C6267 is_a: DOID:3112 ! papillary adenocarcinoma is_a: DOID:3706 ! fallopian tube adenocarcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:5598 name: fallopian tube serous adenocarcinoma def: "A fallopian tube adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25163242 "DO"] synonym: "EFO:1000253" EXACT [] xref: EFO:1000253 xref: NCI:C40099 is_a: DOID:3114 ! serous cystadenocarcinoma is_a: DOID:3706 ! fallopian tube adenocarcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:560 name: jaw-winking syndrome alt_id: MIM:154600 def: "A cranial nerve disease characterized by unilateral congenital ptosis and rapid exaggerated elevation of the ptotic lid on moving of the lower jaw. (DO)" [https://pubmed.ncbi.nlm.nih.gov/16411218/ "DO"] synonym: "abnormal innervation syndrome of eyelid" EXACT [] synonym: "Familial Marcus Gunn phenomenon" EXACT [] synonym: "jaw-blinking" EXACT [] synonym: "Jaw-winking" EXACT [] synonym: "Marcus Gunn Phenomenon" EXACT [] synonym: "Marcus-Gunn syndrome" EXACT [] synonym: "maxillopalpebral synkinesis" EXACT [] synonym: "pterygoid-levator synkinesis" EXACT [] xref: ICD10CM:Q07.8 xref: ICD9CM:374.43 xref: MESH:C535908 is_a: DOID:0060260 ! ptosis is_a: DOID:1682 ! congenital heart disease is_a: DOID:5656 ! cranial nerve disease is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9005219 ! Abnormal Reflexes [Term] id: DOID:5602 name: T-cell adult acute lymphocytic leukemia def: "An adult acute lymphocytic leukemia occurring in adults and that has_material_basis_in T cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9142 "DO"] synonym: "acute adult T-cell leukemia-lymphoma" EXACT [] synonym: "adult Precursor T Lymphoblastic Leukemia" EXACT [] synonym: "EFO:1001936" EXACT [] xref: EFO:1001936 xref: NCI:C9142 is_a: DOID:5603 ! T-cell acute lymphoblastic leukemia is_a: DOID:5604 ! adult acute lymphocytic leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:5603 name: T-cell acute lymphoblastic leukemia alt_id: DOID:5599 alt_id: DOID:715 alt_id: MIM:151440 def: "An acute lymphoblastic leukemia that is characterized by too many T-cell lymphoblasts found in the bone marrow and blood. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/expand/T "DO"] synonym: "acute T-cell leukemia" EXACT [] synonym: "acute T-cell leukemias" EXACT [] synonym: "acute T-lymphocytic leukemia" EXACT [] synonym: "acute T-lymphocytic leukemias" EXACT [] synonym: "Early T cell progenitor acute lymphoblastic leukemia" EXACT [] synonym: "precursor T-cell lymphoblastic leukemia" EXACT [] synonym: "Precursor T-Cell Lymphoblastic Leukemia-Lymphoma" EXACT [] synonym: "Precursor T Cell Lymphoblastic Lymphoma" EXACT [] synonym: "precursor T lymphoblastic leukemia" EXACT [] synonym: "precursor T-lymphoblastic lymphoma/leukemia" EXACT [] synonym: "T acute lymphoblastic leukemia" EXACT [] synonym: "T-ALL" EXACT [] synonym: "T-cell acute lymphoblastic leukaemia" EXACT [] synonym: "T-cell acute lymphoblastic leukemia, susceptibility to" RELATED [] synonym: "T-cell acute lymphocytic leukaemia" EXACT [] synonym: "T-cell acute lymphocytic leukemia" EXACT [] synonym: "T-cell leukemia" EXACT [] synonym: "T-cell leukemias" EXACT [] synonym: "T-cell lymphoblastic leukemia/lymphoma" EXACT [] synonym: "T-cell lymphocytic leukemia" EXACT [] synonym: "T-cell lymphocytic leukemias" EXACT [] synonym: "T lymphocytic leukemia" EXACT [] synonym: "T lymphocytic leukemias" EXACT [] xref: EFO:0000201 xref: EFO:0000209 xref: EFO:0005592 xref: EFO:1001830 xref: ICDO:9729/3 xref: ICDO:9837/3 xref: MESH:D015458 xref: MESH:D054218 xref: MONDO:0003540 xref: NCI:C21925 xref: NCI:C3183 xref: NCI:C3184 xref: NCI:C8694 is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma is_a: DOID:9952 ! acute lymphoblastic leukemia created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:5604 name: adult acute lymphocytic leukemia def: "An acute lymphocytic leukemia occurring during adulthood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4967 "DO"] synonym: "adult acute lymphoid leukemia" EXACT [] synonym: "adult ALL" EXACT [] xref: NCI:C4967 is_a: DOID:9952 ! acute lymphoblastic leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:5605 name: breast medullary carcinoma def: "A breast adenocarcinoma that is characterized by a syncitial growth pattern and high grade cytology. (DO)" [http://surgpathcriteria.stanford.edu/breast/medcabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/24065502 "DO"] synonym: "EFO:0000580" EXACT [] synonym: "medullary breast carcinoma with lymphoid stroma" EXACT [] synonym: "medullary carcinoma of breast" EXACT [] xref: EFO:0000580 xref: NCI:C9119 is_a: DOID:3458 ! breast adenocarcinoma is_a: DOID:9006195 ! Medullary Carcinomas created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5608 name: dental pulp calcification alt_id: RDO:0004085 def: "CALCINOSIS of the DENTAL PULP or ROOT CANAL." [MESH:D003784] synonym: "dental pulp calcifications" EXACT [] synonym: "Dental Pulp Stone" EXACT [] synonym: "Dental Pulp Stones" EXACT [] synonym: "Denticle" EXACT [] synonym: "Denticles" EXACT [] synonym: "Dentin Anomalous Dysplasia" EXACT [] synonym: "Dentin Anomalous Dysplasias" EXACT [] synonym: "pulpal calcifications" EXACT [SNOMEDCT_2005_07_31:57602001] synonym: "pulpal dysplasia" EXACT [] synonym: "pulpal dysplasias" EXACT [] synonym: "pulp calcification" EXACT [CSP2005:0834-4423] synonym: "pulp calcifications" EXACT [MTHICD9_2006:522.2] synonym: "pulp stone" EXACT [] synonym: "pulp stones" EXACT [] xref: MESH:D003784 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:561 name: trigeminal nerve disease def: "Diseases of the trigeminal nerve or its nuclei, which are located in the pons and medulla. The nerve is composed of three divisions: ophthalmic, maxillary, and mandibular, which provide sensory innervation to structures of the face, sinuses, and portions of the cranial vault. The mandibular nerve also innervates muscles of mastication. Clinical features include loss of facial and intra-oral sensation and weakness of jaw closure. Common conditions affecting the nerve include brain stem ischemia, INFRATENTORIAL NEOPLASMS, and TRIGEMINAL NEURALGIA." [MESH:D020433] synonym: "Cranial Nerve V Diseases" EXACT [] synonym: "Fifth Cranial Nerve Diseases" EXACT [] synonym: "Idiopathic Trigeminal Neuropathies" EXACT [] synonym: "Idiopathic Trigeminal Neuropathy" EXACT [] synonym: "Raeder Paratrigeminal Syndrome" EXACT [] synonym: "trigeminal nerve diseases" EXACT [] synonym: "Trigeminal Nerve Disorder" EXACT [] synonym: "Trigeminal Nerve Disorders" EXACT [] synonym: "Trigeminal Neuropathies" EXACT [] synonym: "Trigeminal Neuropathy" EXACT [] xref: EFO:0009569 xref: ICD9CM:350.8 xref: MESH:D020433 xref: RDO:0006751 is_a: DOID:13865 ! facial neuralgia is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:5612 name: spinal cancer def: "A central nervous system cancer that is located_in the spinal cord. It is mostly formed from metastases from primary cancers elsewhere (commonly breast, prostate, and lung cancer). (DO)" [http://en.wikipedia.org/wiki/Spinal_tumor "DO"] synonym: "intraspinal tumor" EXACT [] synonym: "malignant tumor of the spinal cord" EXACT [] synonym: "spinal cord cancer" EXACT [] synonym: "tumor of the spinal cord" EXACT [] xref: ICD10CM:C72.0 xref: ICD9CM:192.2 xref: NCI:C168693 xref: NCI:C3381 xref: NCI:C3572 is_a: DOID:3620 ! central nervous system cancer is_a: DOID:9006391 ! Spinal Cord Neoplasms created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5614 name: eye disease def: "An eye and adnexa disease that is located_in the eye. (DO)" [http://en.wikipedia.org/wiki/Eye_disease "DO"] subset: RGD_JBrowse_slim synonym: "eye diseases" EXACT [] xref: EFO:0003966 xref: ICD10CM:H44 xref: ICD9CM:379.90 xref: MESH:D005128 xref: NCI:C26767 is_a: DOID:0050155 ! sensory system disease [Term] id: DOID:5615 name: spinal canal intradural extramedullary neoplasm synonym: "intradural extramedullary spinal tumors" EXACT [] xref: NCI:C5135 xref: RDO:9004690 is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:562 name: third cranial nerve disease def: "Diseases of the oculomotor nerve or nucleus that result in weakness or paralysis of the superior rectus, inferior rectus, medial rectus, inferior oblique, or levator palpebrae muscles, or impaired parasympathetic innervation to the pupil. With a complete oculomotor palsy, the eyelid will be paralyzed, the eye will be in an abducted and inferior position, and the pupil will be markedly dilated. Commonly associated conditions include neoplasms, CRANIOCEREBRAL TRAUMA, ischemia (especially in association with DIABETES MELLITUS), and aneurysmal compression. (From Adams et al., Principles of Neurology, 6th ed, p270)" [MESH:D015840] synonym: "cranial nerve III diseases" EXACT [] synonym: "disorder of oculomotor nerve" EXACT [] synonym: "oculomotor nerve disease" EXACT [] synonym: "Oculomotor Nerve Disorder" EXACT [] synonym: "oculomotor nerve disorders" EXACT [] synonym: "Oculomotor Nerve Palsies" EXACT [] synonym: "Oculomotor Nerve Palsy" EXACT [] synonym: "Oculomotor Neuropathies" EXACT [] synonym: "Oculomotor Neuropathy" EXACT [] synonym: "third cranial nerve diseases" EXACT [] synonym: "third-nerve palsies" EXACT [] synonym: "third nerve palsy" EXACT [] synonym: "third nerve paralysis" EXACT [] xref: MESH:D015840 xref: NCI:C27598 is_a: DOID:1279 ! ocular motility disease is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:5621 name: histiocytic and dendritic cell cancer def: "A sarcoma and hematologic cancer that derives_from follicular lymphoma. (DO)" [http://www.springerlink.com/content/h9wrn7p72x26q035/ "DO"] synonym: "EFO:1000297" EXACT [] synonym: "histiocytic and dendritic cell" EXACT [] xref: EFO:1000297 xref: NCI:C9294 is_a: DOID:2531 ! hematologic cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5623 name: adenosquamous breast carcinoma def: "A breast metaplastic carcinoma that is characterized by well-developed gland formation intimately admixed with solid nests of squamous cells immersed in a highly cellular spindle cell stroma. (DO)" [https://www.nature.com/articles/modpathol201082 "DO"] xref: NCI:C40361 xref: RDO:9001799 is_a: DOID:4680 ! breast metaplastic carcinoma is_a: DOID:4830 ! adenosquamous carcinoma created_by: rgd creation_date: 2017-08-31T00:00:00Z [Term] id: DOID:5624 name: adenosquamous bile duct carcinoma def: "A bile duct carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] xref: EFO:1000247 xref: NCI:C5778 xref: RDO:9002881 is_a: DOID:4830 ! adenosquamous carcinoma is_a: DOID:5537 ! squamous cell bile duct carcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5625 name: esophageal adenosquamous carcinoma def: "An esophageal carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] xref: NCI:C27421 xref: RDO:9002302 is_a: DOID:1107 ! esophageal carcinoma is_a: DOID:4830 ! adenosquamous carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:5626 name: thymus adenosquamous carcinoma def: "A thymic carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] synonym: "adenosquamous carcinoma of the thymus" EXACT [] xref: NCI:C6458 is_a: DOID:4830 ! adenosquamous carcinoma is_a: DOID:5530 ! thymus squamous cell carcinoma [Term] id: DOID:5627 name: adenosquamous gallbladder carcinoma def: "A gallbladder carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] synonym: "adenosquamous carcinoma of gallbladder" EXACT [] synonym: "adenosquamous carcinoma of the gallbladder" EXACT [] synonym: "EFO:1000264" EXACT [] xref: EFO:1000264 xref: NCI:C7356 is_a: DOID:4830 ! adenosquamous carcinoma is_a: DOID:4948 ! gallbladder carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:5628 name: ampulla of Vater adenosquamous carcinoma def: "An ampulla of Vater carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] xref: NCI:C27418 is_a: DOID:5527 ! ampulla of Vater squamous cell carcinoma is_a: DOID:5624 ! adenosquamous bile duct carcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5629 name: adenosquamous colon carcinoma def: "A colon carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] synonym: "adenosquamous carcinoma of colon" EXACT [] synonym: "colonic adenosquamous carcinoma" EXACT [] synonym: "Colorectal Adenosquamous Carcinoma" NARROW [] xref: EFO:1000190 xref: NCI:C5491 is_a: DOID:1520 ! colon carcinoma is_a: DOID:4830 ! adenosquamous carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:5630 name: Bartholin's gland adenosquamous carcinoma def: "A Bartholin's gland carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] synonym: "Bartholin gland adenosquamous carcinoma" EXACT [] xref: NCI:C40296 is_a: DOID:4830 ! adenosquamous carcinoma is_a: DOID:6961 ! Bartholin's gland squamous cell carcinoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:5631 name: endometrial adenosquamous carcinoma def: "An endometrial carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] synonym: "adenosquamous carcinoma of endometrium" EXACT [] synonym: "EFO:1001952" EXACT [] xref: EFO:1001952 xref: NCI:C114656 is_a: DOID:4830 ! adenosquamous carcinoma is_a: DOID:5533 ! endometrial squamous cell carcinoma [Term] id: DOID:5632 name: optic nerve sheath meningioma synonym: "meningioma of optic nerve sheath" EXACT [SNOMEDCT_2005_07_31:254978007] xref: NCI:C4538 is_a: DOID:3419 ! optic nerve neoplasm [Term] id: DOID:5634 name: adenosquamous prostate carcinoma def: "A prostate carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] synonym: "adenosquamous carcinoma of prostate" EXACT [] synonym: "adenosquamous carcinoma of the prostate" EXACT [] xref: NCI:C5538 is_a: DOID:10286 ! prostate carcinoma is_a: DOID:4830 ! adenosquamous carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:5635 name: gastric adenosquamous carcinoma synonym: "adenosquamous carcinoma of stomach" EXACT [] synonym: "EFO:1000029" EXACT [] xref: EFO:1000029 xref: NCI:C5474 is_a: DOID:4830 ! adenosquamous carcinoma is_a: DOID:5516 ! gastric squamous cell carcinoma [Term] id: DOID:5636 name: cervical adenosquamous carcinoma def: "A cervical carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO"] synonym: "adenosquamous carcinoma of cervix" EXACT [] synonym: "adenosquamous cell carcinoma of the cervix uteri" EXACT [] synonym: "EFO:1000162" EXACT [] xref: EFO:1000162 xref: NCI:C4519 is_a: DOID:3702 ! cervical adenocarcinoma is_a: DOID:4830 ! adenosquamous carcinoma [Term] id: DOID:5637 name: pancreatic adenosquamous carcinoma def: "A pancreatic ductal carcinoma that derives_from squamous cells and gland-like cells. (DO)" [http://en.wikipedia.org/wiki/Adenosquamous_carcinoma "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C5721 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24859531 "DO"] synonym: "Adenosquamous carcinoma of pancreas" EXACT [NCI2004_11_17:C5721] synonym: "adenosquamous carcinoma of the pancreas" RELATED [] synonym: "EFO:0006732" EXACT [] xref: EFO:0006732 xref: NCI:C5721 xref: RDO:9002825 is_a: DOID:3498 ! pancreatic ductal adenocarcinoma is_a: DOID:4830 ! adenosquamous carcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5638 name: malignant giant cell tumor of soft parts synonym: "malignant giant cell neoplasm of soft parts" EXACT [] xref: ICDO:9251/3 xref: NCI:C8380 is_a: DOID:2705 ! malignant giant cell tumor created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5639 name: rete testis neoplasm xref: NCI:C39955 is_a: DOID:3856 ! male reproductive organ cancer is_a: DOID:9004207 ! Testicular Neoplasms created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:5641 name: diffuse pulmonary fibrosis def: "A pulmonary fibrosis that is characterized by diffuse destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. (DO)" [https://www.sciencedirect.com/science/article/pii/S0954611106004331 "DO"] synonym: "DIFFUSE INTERSTITIAL PULMONARY FIBROSIS" EXACT [] xref: NCI:C27216 is_a: DOID:3770 ! pulmonary fibrosis created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:5642 name: localized pulmonary fibrosis def: "A pulmonary fibrosis that is characterized by localized destruction, scarring, and thickening of the lung parenchyma in a usual interstitial pneumonia pattern, eventually causing architectural distortion and honeycombing, has_symptom progressive shortness of breath, fatigue, and chronic cough, possibly has_material_basis_in exposure to certain chemicals, autoimmune conditions, and radiation. (DO)" [https://www.sciencedirect.com/science/article/pii/S0954611106004331 "DO"] xref: NCI:C27103 is_a: DOID:3770 ! pulmonary fibrosis created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:5643 name: urethral villous adenoma xref: NCI:C39872 is_a: DOID:657 ! adenoma is_a: DOID:730 ! urethral benign neoplasm created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:5644 name: tricuspid valve prolapse def: "Abnormal protrusion of one or more of the leaflets of TRICUSPID VALVE into the RIGHT ATRIUM during SYSTOLE. This allows the backflow of blood into right atrium leading to TRICUSPID VALVE INSUFFICIENCY; SYSTOLIC MURMURS. Its most common cause is not primary valve abnormality but rather the dilation of the RIGHT VENTRICLE and the tricuspid annulus." [MESH:D014263] synonym: "Tricuspid Valve Prolapses" EXACT [] xref: EFO:1001218 xref: MESH:D014263 is_a: DOID:0050826 ! tricuspid valve disease is_a: DOID:9004382 ! Heart Valve Prolapse [Term] id: DOID:5648 name: choroid plexus carcinoma def: "A choroid plexus cancer that has_material_basis_in epithelial cells of the choroid plexus. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO", http://en.wikipedia.org/wiki/Choroid_plexus_carcinoma "DO", http://www.cancer.gov/dictionary?CdrID=45963 "DO"] synonym: "cancer of choroid plexus" EXACT [] synonym: "malignant neoplasm of choroid plexus" EXACT [] synonym: "malignant neoplasm of the choroid plexus" EXACT [] synonym: "malignant tumor of choroid plexus" RELATED [] xref: GARD:8238 xref: ICDO:9390/3 xref: MESH:C562943 xref: NCI:C4533 xref: NCI:C4715 is_a: DOID:305 ! carcinoma is_a: DOID:3540 ! choroid plexus cancer is_a: DOID:9000080 ! Choroid Plexus Neoplasms [Term] id: DOID:565 name: bilateral hypoactive labyrinth synonym: "hypoactive bilateral labyrinthine dysfunction" EXACT [] xref: ICD9CM:386.54 is_a: DOID:566 ! labyrinthine dysfunction created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:5655 name: chiasmal syndrome def: "An optic nerve disease that is characterized by lesions of the optic chiasm, manifesting as various impairments of the sufferer's visual field according to the location of the lesion along the optic nerve. (DO)" [https://en.wikipedia.org/wiki/Chiasmal_syndrome "DO"] synonym: "chiasma syndrome" EXACT [] synonym: "disorder of optic chiasm" EXACT [] xref: ICD10CM:H47.4 xref: ICD9CM:377.5 xref: MONDO:0003568 is_a: DOID:1891 ! optic nerve disease is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5656 name: cranial nerve disease def: "A neuropathy that is located_in one of the twelve cranial nerves. (DO)" [http://en.wikipedia.org/wiki/Cranial_nerve_disease "DO", http://www.ncbi.nlm.nih.gov/mesh/68003389 "DO"] synonym: "cranial nerve diseases" EXACT [] synonym: "Cranial Nerve Disorder" EXACT [] synonym: "cranial nerve disorders" EXACT [] synonym: "Cranial Neuropathies" EXACT [] synonym: "Cranial Neuropathy" EXACT [] synonym: "disorder of cranial nerve" EXACT [] synonym: "Multiple Cranial Neuropathies" EXACT [] synonym: "multiple cranial neuropathy" EXACT [] synonym: "nervus cranialis disorder" EXACT [] synonym: "nervus cranialis disorders" EXACT [] xref: ICD10CM:G52.9 xref: ICD9CM:352.9 xref: MESH:D003389 xref: NCI:C26733 is_a: DOID:870 ! neuropathy [Term] id: DOID:5658 name: lipid-rich carcinoma def: "A breast carcinoma characterized by the presence of malignant epithelial cells with clear cytoplasm which contains neutral lipids. (DO)" [http://www.pathologyoutlines.com/topic/breastmalignantlipidrich.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25789031 "DO"] xref: ICDO:8314/3 xref: NCI:C4152 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:566 name: labyrinthine dysfunction xref: ICD10CM:H83.2 xref: ICD9CM:386.5 is_a: DOID:2952 ! inner ear disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:5660 name: lymphoepithelioma-like carcinoma def: "A carcinoma that is a malignant epithelial neoplasm densely infiltrated by lymphoid cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5588446/ "DO"] synonym: "lymphoepithelial carcinoma" EXACT [] synonym: "nasopharyngeal type undifferentiated carcinoma" EXACT [] xref: NCI:C4107 is_a: DOID:305 ! carcinoma is_a: DOID:9261 ! nasopharynx carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:5662 name: pleomorphic carcinoma def: "A sarcomatoid carcinoma that is consisting of spindle or giant cells (or both) combined with squamous cell carcinoma, adenocarcinoma, or large-cell carcinoma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35361152/ "DO"] xref: ICDO:8022/3 xref: NCI:C4094 is_a: DOID:4015 ! sarcomatoid carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:5665 name: external ear cancer def: "An ear cancer that is located_in the external ear. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=20.01d&ns=ncit&code=C4652&key=943007722&b=1&n=null "DO"] synonym: "malignant neoplasm of the external ear" EXACT [] synonym: "malignant tumor of external ear" EXACT [] xref: NCI:C4653 is_a: DOID:379 ! external ear disease is_a: DOID:5101 ! ear cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:5667 name: sweat gland carcinoma synonym: "carcinoma of the sweat gland" EXACT [] synonym: "EFO:0005591" EXACT [] xref: EFO:0005591 xref: NCI:C6938 is_a: DOID:2095 ! sweat gland cancer is_a: DOID:3451 ! skin carcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5670 name: comedo carcinoma def: "A ductal carcinoma in situ that is characterized by the presence of comedo-type of tumor cell necrosis in which the necrotic areas are surrounded by a solid proliferation of malignant pleomorphic cells. (DO)" [http://www.cancer.gov/dictionary/?CdrID=44330 "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4188 "DO"] synonym: "comedocarcinoma" EXACT [] xref: NCI:C4188 is_a: DOID:0060074 ! ductal carcinoma in situ [Term] id: DOID:5672 name: large intestine cancer def: "An intestinal cancer that effects the long, tube-like organ that is connected to the small intestine at one end and the anus at the other. (DO)" [http://en.wikipedia.org/wiki/Large_intestine "DO"] is_a: DOID:10155 ! intestinal cancer created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:5675 name: cribriform carcinoma def: "A breast carcinoma that is characterized by an irregular cribriform growth pattern, nuclear grade I in at least 90% of cells, and absent myoepithelial cells. (DO)" [http://surgpathcriteria.stanford.edu/breast/cribcabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/24938660 "DO"] synonym: "ductal carcinoma, cribriform type" EXACT [] xref: EFO:1000210 xref: ICDO:8201/3 xref: NCI:C3680 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:5677 name: malignant extragonadal nonseminomatous germ cell tumor def: "An extragonadal germ cell cancer that are located_in the pineal gland in the brain, located_in the mediastinum or located_in the abdomen. (DO)" [http://en.wikipedia.org/wiki/Germ_cell_tumor#Nongerminomatous "DO", http://rarediseases.info.nih.gov/gard/10165/nonseminomatous-germ-cell-tumor/resources/1 "DO"] synonym: "primary malignant extragonadal nonseminoma" EXACT [] xref: NCI:C8885 is_a: DOID:1319 ! brain cancer is_a: DOID:4717 ! extragonadal germ cell cancer is_a: DOID:5559 ! mediastinal cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5678 name: nerve fibre bundle defect synonym: "retinal nerve fiber bundle defects" EXACT [] synonym: "retinal nerve fiber bundle deficiency" EXACT [] xref: ICD9CM:362.85 is_a: DOID:1393 ! visual pathway disease is_a: DOID:5679 ! retinal disease is_a: DOID:9000343 ! Vision Disorders created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5679 name: retinal disease def: "An eye disease that is located_in the retina. (DO)" [http://en.wikipedia.org/wiki/Retina#Diseases_and_disorders "DO"] synonym: "retinal diseases" EXACT [] xref: EFO:0003839 xref: ICD10CM:H35.9 xref: ICD9CM:362.9 xref: MESH:D012164 xref: NCI:C26875 xref: NCI:C62601 is_a: DOID:5614 ! eye disease [Term] id: DOID:5680 name: embryonal testis carcinoma def: "An embryonal carcinoma that is located_in the testis. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma "DO"] synonym: "EFO:1000565" EXACT [] synonym: "embryonal carcinoma of testis" EXACT [] synonym: "embryonal carcinoma of the testis" EXACT [] synonym: "testicular embryonal carcinoma" EXACT [] xref: EFO:1000565 xref: NCI:C6341 is_a: DOID:2998 ! testicular cancer is_a: DOID:3308 ! embryonal carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5681 name: ovarian embryonal carcinoma def: "An embryonal carcinoma that is located_in the ovary. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma "DO"] synonym: "EFO:1000415" EXACT [] synonym: "embryonal carcinoma of ovary" EXACT [] synonym: "embryonal carcinoma of the ovary" EXACT [] xref: EFO:1000415 xref: NCI:C8108 is_a: DOID:2394 ! ovarian cancer is_a: DOID:3308 ! embryonal carcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5683 name: hereditary breast ovarian cancer syndrome alt_id: MIM:604370 alt_id: MIM:612555 alt_id: MIM:613399 alt_id: MIM:614291 alt_id: MIM:620442 def: "A syndrome characterized by the higher than normal tendency associated with BRCA1 and BRCA2 to develop breast and ovarian cancers in genetically related families. (DO)" [http://en.wikipedia.org/wiki/Hereditary_breast%E2%80%93ovarian_cancer_syndrome "DO", http://www.cancer.gov/cancertopics/pdq/genetics/breast-and-ovarian/HealthProfessional/page1 "DO", https://www.jax.org/education-and-learning/clinical-and-continuing-education/cancer-resources/hereditary-breast-and-ovarian-cancer-syndrome-factsheet "DO", https://www.ncbi.nlm.nih.gov/books/NBK1247/ "DO"] synonym: "BRCA1- and BRCA2-associated hereditary breast and ovarian cancer" EXACT [] synonym: "BRCA1-RELATED CANCER PREDISPOSITION" RELATED [] synonym: "breast and/or ovarian cancer" EXACT [] synonym: "breast and ovarian cancer susceptibility" RELATED [] synonym: "Breast and Ovarian Cancer syndrome" EXACT [] synonym: "BREAST CANCER, SUSCEPTIBILITY TO, IN BRCA1 AND BRCA2 CARRIERS" RELATED [] synonym: "BROVCA1" EXACT [] synonym: "BROVCA2" EXACT [] synonym: "BROVCA3" EXACT [] synonym: "BROVCA4" EXACT [] synonym: "BROVCA5" EXACT [] synonym: "DELETERIOUS RAD51D GENE MUTATION" RELATED [] synonym: "familial breast cancer, susceptibility to, 1" RELATED [] synonym: "familial breast cancer, susceptibility to, 2" RELATED [] synonym: "familial breast cancer, susceptibility to, 3" RELATED [] synonym: "familial breast-ovarian cancer, 1" EXACT [] synonym: "familial breast-ovarian cancer, 2" EXACT [] synonym: "familial breast-ovarian cancer, 4" EXACT [] synonym: "familial breast-ovarian cancer, susceptibility to, 1" RELATED [] synonym: "familial breast-ovarian cancer, susceptibility to, 2" RELATED [] synonym: "familial breast-ovarian cancer, susceptibility to, 3" RELATED [] synonym: "familial breast-ovarian cancer, susceptibility to, 4" RELATED [] synonym: "familial breast-ovarian cancer, susceptibility to, 5" RELATED [] synonym: "familial ovarian cancer, susceptibility to, 1" RELATED [] synonym: "familial ovarian cancer, susceptibility to, 2" RELATED [] synonym: "familial ovarian cancer, susceptibility to, 3" RELATED [] synonym: "GENETIC NON-ACQUIRED PREMATURE OVARIAN FAILURE" NARROW [] synonym: "HBOC syndrome" EXACT [] synonym: "HBOC syndromes" EXACT [] synonym: "hereditary breast and ovarian cancer" EXACT [] synonym: "hereditary breast and ovarian cancer syndrome" EXACT [] synonym: "RAD51C-RELATED CONDITION" BROAD [] xref: EFO:0002611 xref: MESH:D061325 xref: MIM:PS604370 xref: MONDO:0003582 xref: NCI:C8493 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1612 ! breast cancer is_a: DOID:2394 ! ovarian cancer is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:5684 name: spondyloepimetaphyseal dysplasia, Sponastrime type alt_id: MIM:271510 def: "A spondyloepimetaphyseal dysplasia that is characterized by spondylar and nasal changes, with striations of the metaphyses that has_material_basis_in autosomal recessive inheritance. (DO)" [http://omim.org/entry/271510 "DO", https://www.ncbi.nlm.nih.gov/pubmed/10797420 "DO"] synonym: "skeletal dysplasia with extra-skeletal manifestations" EXACT [] synonym: "Sponastrime dysplasia" EXACT [] synonym: "Spondylar and nasal Alterations-Striated Metaphyses syndrome" EXACT [NCI2004_11_17:C3034] synonym: "Spondylar and nasal alterations with striated metaphyses" EXACT [] synonym: "TONSL-RELATED CONDITION" EXACT [] xref: MESH:C535786 xref: NCI:C129031 xref: NCI:C92206 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:5688 name: Werner syndrome alt_id: MIM:277700 def: "A progeroid syndrome characterized by premature aging and age-related phenotypes such as atherosclerosis, arteriosclerosis, cataracts, osteoporosis, soft tissue calcification, premature thinning, graying, and loss of hair, as well as a high incidence of some types of cancers and that has_material_basis_in mutations in the WRN gene, on chromosome 8. (DO)" [https://en.wikipedia.org/wiki/Werner_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/15946710 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9288107 "DO"] synonym: "adult premature ageing syndrome" EXACT [] synonym: "adult premature aging syndrome" EXACT [] synonym: "adult progeria" EXACT [] synonym: "Werner's syndrome" EXACT [] synonym: "Werners syndrome" EXACT [] synonym: "WRN" EXACT [] synonym: "WS" EXACT [] xref: GARD:7885 xref: MESH:D014898 xref: NCI:C3447 xref: ORDO:902 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0081332 ! progeroid syndrome is_a: DOID:9002644 ! Premature Aging is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:5690 name: well-differentiated liposarcoma def: "A liposarcoma that is characterized as a slow growing, painless tumor usually located in the retroperitoneum or the limbs and derives_from proliferating mature adipocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26645460 "DO"] synonym: "atypical lipomatous tumor" EXACT [] synonym: "EFO:1000099" EXACT [] xref: EFO:0000736 xref: EFO:1000099 xref: NCI:C176979 xref: ORDO:99971 is_a: DOID:3382 ! liposarcoma [Term] id: DOID:5691 name: visual cortex disease synonym: "visual cortex dysfunction" EXACT [] xref: ICD10CM:H47.6 xref: ICD9CM:377.7 xref: NCI:C35275 is_a: DOID:1393 ! visual pathway disease created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5692 name: cellular myxoid liposarcoma synonym: "EFO:0003084" EXACT [] synonym: "Round cell liposarcoma" EXACT [SNOMEDCT_2005_07_31:404070007] xref: EFO:0003084 xref: NCI:C4252 xref: RDO:9004286 is_a: DOID:5363 ! myxoid liposarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5693 name: adult liposarcoma xref: NCI:C7811 xref: RDO:9004287 is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5694 name: esophagus liposarcoma synonym: "liposarcoma of esophagus" EXACT [] synonym: "liposarcoma of oesophagus" EXACT [] synonym: "oesophagus liposarcoma" EXACT [] xref: NCI:C5705 is_a: DOID:1114 ! esophagus sarcoma is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:5695 name: childhood liposarcoma synonym: "pediatric liposarcoma" EXACT [] xref: ICD-O:M8850/3 xref: NCI:C8091 is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5696 name: larynx liposarcoma def: "A liposarcoma that is located_in the larynx. (DO)" [http://www.springerlink.com/content/k571r5t8637pg5p5/ "DO"] synonym: "liposarcoma of larynx" EXACT [] xref: NCI:C6021 is_a: DOID:2877 ! larynx sarcoma is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5697 name: liposarcoma of the ovary def: "An ovary sarcoma that arises from fatty tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32656967/ "DO"] synonym: "liposarcoma of ovary" EXACT [] xref: NCI:C6419 is_a: DOID:2146 ! ovary sarcoma is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5698 name: fibroblastic liposarcoma xref: ICDO:8857/3 xref: NCI:C6509 is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5699 name: kidney liposarcoma def: "A liposarcoma that is located_in the kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15689251 "DO", https://www.ncbi.nlm.nih.gov/pubmed/30050631 "DO"] synonym: "liposarcoma of kidney" EXACT [] synonym: "renal liposarcoma" EXACT [] xref: MONDO:0003591 xref: NCI:C6185 is_a: DOID:3382 ! liposarcoma is_a: DOID:4242 ! kidney sarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:57 name: aortic valve insufficiency def: "An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. (DO)" [http://en.wikipedia.org/wiki/Aortic_insufficiency "DO"] synonym: "aortic incompetence" EXACT [] synonym: "aortic insufficiency" EXACT [] synonym: "Aortic Regurgitation" EXACT [] synonym: "Aortic Valve Incompetence" EXACT [] synonym: "aortic valve regurgitation" EXACT [] synonym: "Corrigan's disease" EXACT [] synonym: "rheumatic aortic insufficiency" EXACT [] synonym: "rheumatic aortic regurgitation" EXACT [] synonym: "rheumatic aortic valve insufficiency" EXACT [] synonym: "rheumatic aortic valve regurgitation" EXACT [] xref: EFO:0007148 xref: ICD10CM:I06.1 xref: ICD9CM:395.1 xref: MESH:D001022 xref: NCI:C50861 xref: NCI:C51223 is_a: DOID:62 ! aortic valve disease [Term] id: DOID:5700 name: gastric liposarcoma synonym: "liposarcoma of the stomach" EXACT [] xref: NCI:C5488 is_a: DOID:10534 ! stomach cancer is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:5701 name: breast liposarcoma def: "A breast sarcoma that arises from fat cells. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/liposarcoma "DO"] synonym: "liposarcoma of the breast" EXACT [] xref: NCI:C5187 xref: RDO:9004331 is_a: DOID:3017 ! breast sarcoma is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5702 name: pleomorphic liposarcoma synonym: "EFO:0003083" EXACT [] xref: EFO:0003083 xref: ICDO:8854/3 xref: NCI:C3705 is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5703 name: mixed liposarcoma xref: ICDO:8855/3 xref: NCI:C4253 is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5704 name: sclerosing liposarcoma xref: NCI:C6507 is_a: DOID:5690 ! well-differentiated liposarcoma [Term] id: DOID:5705 name: spindle cell liposarcoma xref: NCI:C27489 is_a: DOID:5690 ! well-differentiated liposarcoma [Term] id: DOID:5709 name: mixed-type liposarcoma synonym: "EFO:0000613" EXACT [] xref: EFO:0000613 xref: NCI:C27781 is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:571 name: median neuropathy def: "Disease involving the median nerve, from its origin at the BRACHIAL PLEXUS to its termination in the hand. Clinical features include weakness of wrist and finger flexion, forearm pronation, thenar abduction, and loss of sensation over the lateral palm, first three fingers, and radial half of the ring finger. Common sites of injury include the elbow, where the nerve passes through the two heads of the pronator teres muscle (pronator syndrome) and in the carpal tunnel (CARPAL TUNNEL SYNDROME)." [MESH:D020423] synonym: "Distal Medial Neuropathies" EXACT [] synonym: "Distal Medial Neuropathy" EXACT [] synonym: "Median Nerve Disease" EXACT [] synonym: "Median Nerve Diseases" EXACT [] synonym: "Median Nerve Neuralgia" EXACT [] synonym: "Median Nerve Neuralgias" EXACT [] synonym: "Median Neuropathies" EXACT [] synonym: "MONONEUROPATHY OF THE MEDIAN NERVE" EXACT [] synonym: "Proximal Median Neuropathies" EXACT [] synonym: "Proximal Median Neuropathy" EXACT [] xref: EFO:0020031 xref: ICD10CM:G56.10 xref: ICD9CM:354.1 xref: MESH:D020423 is_a: DOID:572 ! mononeuritis of upper limb and mononeuritis multiplex [Term] id: DOID:5711 name: vulvar liposarcoma def: "A vulvar sarcoma that has_material_basis_in adipocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25469348 "DO"] xref: NCI:C40321 is_a: DOID:2096 ! vulvar sarcoma is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5712 name: cutaneous liposarcoma synonym: "liposarcoma of the skin" EXACT [] xref: NCI:C5615 is_a: DOID:2687 ! skin sarcoma is_a: DOID:3382 ! liposarcoma is_a: DOID:3488 ! cellulitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5713 name: mediastinum liposarcoma def: "A liposarcoma that is located_in the mediastinum. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222671/ "DO"] synonym: "liposarcoma of mediastinum" EXACT [] xref: NCI:C6614 is_a: DOID:3382 ! liposarcoma is_a: DOID:4050 ! mediastinum sarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5714 name: intracranial liposarcoma xref: NCI:C6973 xref: RDO:9004342 is_a: DOID:3382 ! liposarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5715 name: functionless pituitary adenoma synonym: "EFO:0008516" EXACT [] synonym: "Non-Functioning neoplasm of the Pituitary" EXACT [] synonym: "Non-Secretory adenoma of the Pituitary gland" EXACT [] xref: EFO:0008516 xref: NCI:C4348 is_a: DOID:3829 ! pituitary adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5716 name: hormone producing pituitary cancer synonym: "growth hormone producing pituitary tumor" EXACT [] synonym: "hormone producing pituitary tumors" EXACT [] synonym: "somatotropinoma" EXACT [] is_a: DOID:1785 ! pituitary cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:5718 name: adrenal neuroblastoma def: "An adrenal gland cancer that derives_from immature neuroblastic cells. (DO)" [http://en.wikipedia.org/wiki/Adrenal_tumor#Neuroblastoma "DO", http://www.cancer.gov/cancertopics/types/neuroblastoma "DO"] synonym: "neuroblastoma of Adrenal gland" EXACT [NCI2004_11_17:C4827] xref: EFO:1000075 xref: NCI:C4827 xref: RDO:9002795 is_a: DOID:3953 ! adrenal gland cancer is_a: DOID:769 ! neuroblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5719 name: adrenal medulla cancer def: "An adrenal gland cancer that is located_in the adrenal medulla. (DO)" [http://en.wikipedia.org/wiki/Adrenal_tumor#Tumors_of_the_Adrenal_Medulla "DO"] synonym: "adrenal medulla neoplasm" EXACT [] synonym: "adrenal medulla tumor" EXACT [] synonym: "malignant neoplasm of adrenal medulla" EXACT [] synonym: "malignant tumor of the adrenal medulla" EXACT [] xref: GARD:5755 xref: ICD10CM:C74.1 xref: NCI:C4396 xref: NCI:C4856 is_a: DOID:3953 ! adrenal gland cancer created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:572 name: mononeuritis of upper limb and mononeuritis multiplex xref: ICD9CM:354 is_a: DOID:1802 ! mononeuritis created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5723 name: optic atrophy def: "An optic nerve disease that is characterized the death of the retinal ganglion cell axons that comprise the optic nerve. (DO)" [https://eyewiki.aao.org/Optic_Atrophy "DO"] synonym: "atrophy of optic disc" EXACT [] xref: ICD10CM:H47.2 xref: ICD9CM:377.1 xref: MESH:D009896 xref: MIM:PS165500 xref: MONDO:0003608 xref: NCI:C34863 xref: ORDO:98673 is_a: DOID:1891 ! optic nerve disease is_a: DOID:9004462 ! Atrophy [Term] id: DOID:5724 name: seminal vesicle cystadenoma def: "A seminal vesicle tumor that derives_from glandular epithelial cells and that is located_in the seminal vesicle. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4996551/ "DO"] xref: NCI:C39907 is_a: DOID:2634 ! cystadenoma is_a: DOID:3855 ! seminal vesicle tumor created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5725 name: rete ovarii cystadenoma def: "A rete ovarii adenoma that is characterized by the presence of cysts and/or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2852648 "DO"] xref: MONDO:0003610 xref: NCI:C40019 is_a: DOID:2634 ! cystadenoma is_a: DOID:3269 ! ovarian cystadenoma is_a: DOID:6837 ! rete ovarii adenoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5726 name: uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease def: "A uterine benign neoplasm that is located_in the uterine ligament and has_material_basis_in glandular epithelial tissue in which cystic accumulations of retained secretions are formed and is characterized by the formation of fingerlike projections. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22296276 "DO"] synonym: "uterine ligament papillary cystadenoma" EXACT [] xref: NCI:C40142 is_a: DOID:0060095 ! uterine benign neoplasm [Term] id: DOID:5727 name: uterine ligament cancer def: "A uterine cancer that is located_in the ligaments that support the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3931904/ "DO"] synonym: "tumor of the uterine ligament" EXACT [] xref: NCI:C40133 is_a: DOID:363 ! uterine cancer [Term] id: DOID:5728 name: diffuse peritoneal leiomyomatosis def: "A peritoneal benign neoplasm that is located throughout the peritoneum and derives_from smooth muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23815223 "DO"] synonym: "Disseminated Peritoneal Leiomyomatosis" EXACT [] synonym: "EFO:1000220" EXACT [] synonym: "leiomyomatosis peritonealis disseminata" EXACT [SNOMEDCT_2005_07_31:62557001] synonym: "LPD" EXACT [] xref: EFO:1000220 xref: GARD:12843 xref: NCI:C3958 xref: RDO:9004468 is_a: DOID:0060117 ! peritoneal benign neoplasm is_a: DOID:5138 ! leiomyomatosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5729 name: intravenous leiomyomatosis def: "A leiomyomatosis that is located within the blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3762011/ "DO"] xref: GARD:10802 xref: NCI:C4518 xref: NCI:C5356 is_a: DOID:178 ! vascular disease is_a: DOID:5138 ! leiomyomatosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:573 name: nerve compression syndrome def: "Mechanical compression of nerves or nerve roots from internal or external causes. These may result in a conduction block to nerve impulses (due to MYELIN SHEATH dysfunction) or axonal loss. The nerve and nerve sheath injuries may be caused by ISCHEMIA; INFLAMMATION; or a direct mechanical effect." [MESH:D009408] synonym: "entrapment neuropathies" EXACT [] synonym: "entrapment neuropathy" EXACT [] synonym: "External Nerve Compression Syndromes" EXACT [] synonym: "Internal Nerve Compression Syndromes" EXACT [] synonym: "nerve compression syndromes" EXACT [] synonym: "Nerve Entrapment" EXACT [] synonym: "nerve entrapments" EXACT [] synonym: "peripheral nerve entrapment syndrome" EXACT [] xref: EFO:0009487 xref: MESH:D009408 xref: NCI:C27221 is_a: DOID:225 ! syndrome is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:5730 name: salpingitis isthmica nodosa def: "A chronic salpingitis that is caused by is nodular thickening of the narrow part of the uterine tube, due to inflammation. (DO)" [https://en.wikipedia.org/wiki/Salpingitis_isthmica_nodosa "DO"] xref: NCI:C40119 xref: RDO:9003157 is_a: DOID:5731 ! chronic salpingitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:5731 name: chronic salpingitis xref: ICD10CM:N70.11 xref: NCI:C40118 is_a: DOID:5733 ! salpingitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:5732 name: pyosalpinx synonym: "pyosalpingitis" EXACT [] xref: NCI:C34968 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:5733 ! salpingitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:5733 name: salpingitis def: "A fallopian tube disease that is characterized by inflammation of the fallopian tube. (DO)" [https://en.wikipedia.org/wiki/Salpingitis "DO"] synonym: "salpingitides" EXACT [] xref: ICD10CM:N70.91 xref: MESH:D012488 xref: NCI:C26880 is_a: DOID:1003 ! pelvic inflammatory disease is_a: DOID:1962 ! fallopian tube disease [Term] id: DOID:574 name: peripheral nervous system disease def: "A nervous system disease that affects the peripheral nervous system. (DO)" [http://en.wikipedia.org/w/index.php?title=Peripheral_neuropathy&redirect=no "DO"] synonym: "Peripheral Nerve Disease" EXACT [] synonym: "peripheral nerve diseases" EXACT [] synonym: "peripheral nervous system diseases" EXACT [] synonym: "Peripheral Nervous System Disorders" EXACT [] synonym: "Peripheral Neuropathies" EXACT [] synonym: "Peripheral Neuropathy" EXACT [] synonym: "PNS (peripheral nervous system) diseases" EXACT [] synonym: "PNS Disease" EXACT [] synonym: "PNS Diseases" EXACT [] xref: EFO:0009387 xref: MESH:D010523 xref: NCI:C119734 xref: NCI:C27580 xref: NCI:C27587 is_a: DOID:863 ! nervous system disease [Term] id: DOID:5740 name: small intestinal vasoactive intestinal peptide producing tumor synonym: "small intestinal vasoactive intestinal peptide producing tumour" EXACT [] synonym: "small intestinal VIP producing tumor" EXACT [] synonym: "small intestinal VIP producing tumour" EXACT [] xref: NCI:C27455 is_a: DOID:10154 ! small intestine cancer is_a: DOID:5574 ! vipoma created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:5741 name: pancreatic vasoactive intestinal peptide producing tumor synonym: "pancreatic vasoactive intestinal peptide producing tumour" EXACT [] synonym: "pancreatic vipoma" EXACT [] synonym: "pancreatic vipomas" EXACT [] synonym: "pancreatic VIP Producing tumor" EXACT [] synonym: "pancreatic VIP Producing tumour" EXACT [] xref: EFO:1000445 xref: NCI:C27454 xref: NCI:C95599 is_a: DOID:5574 ! vipoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5742 name: pancreatic acinar cell adenocarcinoma def: "A pancreatic adenocarcinoma that has_material_basis_in cells with morphological resemblance to acinar cells and is associated with increased serum lipase. (DO)" [http://en.wikipedia.org/wiki/Acinar_cell_carcinoma_of_the_pancreas "DO", http://www.pathologyoutlines.com/topic/pancreasacinar.html "DO"] synonym: "pancreatic acinar cell carcinoma" EXACT [] xref: EFO:1000439 xref: MONDO:0006346 xref: NCI:C7977 is_a: DOID:3025 ! acinar cell carcinoma is_a: DOID:4074 ! pancreatic adenocarcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5743 name: acinic cell breast carcinoma def: "A breast adenocarcinoma that is characterized by widespread acinar cell-like differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148534/ "DO"] xref: NCI:C40367 is_a: DOID:3025 ! acinar cell carcinoma is_a: DOID:3458 ! breast adenocarcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5744 name: ovary serous adenocarcinoma def: "An ovary adenocarcinoma that derives_from the lining of a cavity that produces a serum-like fluid (a serous cavity). (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO", http://en.wikipedia.org/wiki/Serous_carcinoma "DO"] synonym: "EFO:0002917" EXACT [] synonym: "high grade ovarian serous adenocarcinoma" NARROW [] synonym: "malignant ovarian serous tumor" EXACT [] synonym: "Ovarian Serous Adenocarcinofibroma" NARROW [] synonym: "OVARIAN SEROUS SURFACE PAPILLARY ADENOCARCINOMA" NARROW [] synonym: "PRIMARY LOW GRADE SEROUS ADENOCARCINOMA OF OVARY" NARROW [] synonym: "serous carcinoma of ovary" EXACT [] xref: EFO:0002917 xref: EFO:1000427 xref: EFO:1001958 xref: NCI:C40025 xref: NCI:C7550 is_a: DOID:3114 ! serous cystadenocarcinoma is_a: DOID:3713 ! ovary adenocarcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5746 name: ovarian serous cystadenocarcinoma def: "An ovary serous adenocarcinoma that has_material_basis_in glandular epithelium, in which cystic accumulations of retained secretions are formed. (DO)" [http://cancergenome.nih.gov/cancersselected/ovarian "DO", http://en.wikipedia.org/wiki/Serous_cystadenocarcinoma "DO"] synonym: "EFO:1000043" EXACT [] synonym: "serous cystadenoma" EXACT [] xref: EFO:1000043 xref: NCI:C7978 is_a: DOID:3605 ! ovarian cystadenocarcinoma is_a: DOID:5744 ! ovary serous adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:5747 name: uterine ligament serous adenocarcinoma def: "A uterine ligament adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)" [https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690 "DO"] xref: NCI:C40136 is_a: DOID:3700 ! uterine ligament adenocarcinoma [Term] id: DOID:5748 name: rheumatic pulmonary valve disease synonym: "rheumatic disease of pulmonary valve" EXACT [] synonym: "rheumatic pulmonary incompetence" EXACT [] xref: ICD10CM:I09.89 xref: ICD9CM:397.1 is_a: DOID:0060051 ! autoimmune disease of cardiovascular system is_a: DOID:1575 ! rheumatic disease is_a: DOID:5749 ! pulmonary valve disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:5749 name: pulmonary valve disease synonym: "pulmonary valve disorder" EXACT [] xref: EFO:0009564 xref: ICD9CM:424.3 xref: NCI:C78579 is_a: DOID:4079 ! heart valve disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5750 name: endometrial serous adenocarcinoma def: "A uterine corpus cancer that is characterized histologically by papillae with fibrovascular cores, marked nuclear atypia, psammoma bodies and cilia. (DO)" [http://en.wikipedia.org/wiki/Uterine_serous_carcinoma "DO"] synonym: "PAPILLARY CARCINOMA OF THE CORPUS UTERI" EXACT [] synonym: "type 2 endometrial cancer" EXACT [] synonym: "Type 2 endometrial carcinoma" EXACT [] synonym: "Type II endometrial cancer" EXACT [] synonym: "type II endometrial carcinoma" EXACT [] synonym: "UPSC" EXACT [] synonym: "uterine corpus serous adenocarcinoma" EXACT [] synonym: "uterine papillary serous carcinoma" EXACT [] synonym: "uterine serous carcinoma" EXACT [] xref: EFO:1000238 xref: NCI:C27838 is_a: DOID:2870 ! endometrial adenocarcinoma is_a: DOID:3114 ! serous cystadenocarcinoma is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:5751 name: pancreatic serous cystadenocarcinoma def: "A serous cystadenocarcinoma that is located_in the pancreas. (DO)" [https://en.wikipedia.org/wiki/Pancreatic_serous_cystadenoma "DO"] synonym: "serous cystadenocarcinoma of pancreas" EXACT [] xref: NCI:C5724 is_a: DOID:3114 ! serous cystadenocarcinoma is_a: DOID:4073 ! pancreatic cystadenocarcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5752 name: cervical serous adenocarcinoma def: "A cervical adenocarcinoma that derives_from epithelial cells originating in glandular tissue forming serous lesions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25370301 "DO"] xref: NCI:C40201 is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:5757 name: endocervicitis def: "A cervicitis that is located_in the endocervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23134447 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29370498 "DO"] xref: NCI:C26762 is_a: DOID:2568 ! cervicitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5758 name: malignant mesenchymoma alt_id: RDO:0000960 synonym: "Malignant Mesenchymal Tumor" EXACT [] xref: GARD:3369 xref: MESH:C535700 xref: NCI:C4268 is_a: DOID:2668 ! mesenchymoma [Term] id: DOID:5759 name: sebaceous gland neoplasm def: "New abnormal growth of tissue in the SEBACEOUS GLANDS." [MESH:D012626] synonym: "sebaceous gland neoplasms" EXACT [] synonym: "Sebaceous neoplasm" EXACT [NCI2004_11_17:C3363] xref: EFO:1001172 xref: MESH:D012626 xref: NCI:C3363 xref: RDO:0006549 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:576 name: proteinuria def: "A kidney disease that is characterized by the presence of excess proteins in the urine. (DO)" [https://en.wikipedia.org/wiki/Proteinuria "DO"] synonym: "proteinurias" EXACT [] xref: ICD10CM:R80 xref: ICD9CM:791.0 xref: MESH:D011507 xref: NCI:C38012 is_a: DOID:557 ! kidney disease is_a: DOID:9003919 ! Urination Disorders is_a: DOID:9007629 ! Urological Manifestations [Term] id: DOID:5760 name: sebaceous breast carcinoma def: "A breast carcinoma that is characterized by a lobular or nested growth pattern of tumor cells variably admixed with cells displaying sebaceous differentiation. It is a distinct variant of invasive ductal carcinoma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5323417/ "DO"] xref: NCI:C40369 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:5761 name: vulvar sebaceous carcinoma def: "A vulva carcinoma that is characterized by the presence of sebaceous secretions. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10535578 "DO"] xref: NCI:C40309 is_a: DOID:1294 ! vulva carcinoma created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:5763 name: lung clear cell-sugar-tumor xref: NCI:C38152 xref: RDO:9002003 is_a: DOID:3683 ! lung benign neoplasm created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:5764 name: lung meningioma synonym: "lung primary meningioma" EXACT [] synonym: "primary pulmonary meningioma" EXACT [] synonym: "pulmonary meningioma" EXACT [] xref: NCI:C5276 xref: NCI:C5668 is_a: DOID:1324 ! lung cancer is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:5766 name: pulmonary sclerosing hemangioma def: "A benign neoplasm of pneumocytes, cells of the PULMONARY ALVEOLI. Originally considered to be vascular in origin, it is now classified as an epithelial tumor with several elements, including solid cellular areas, papillary structure, sclerotic regions, and dilated blood-filled spaces resembling HEMANGIOMA." [MESH:D047868] synonym: "EFO:1000337" EXACT [] synonym: "lung sclerosing hemangioma" EXACT [] synonym: "lung sclerosing hemangiomas" EXACT [] synonym: "pneumocytoma" EXACT [] synonym: "pulmonary sclerosing hemangiomas" EXACT [] synonym: "sclerosing hemangioma of the lung" EXACT [] xref: EFO:1000337 xref: EFO:1001136 xref: MESH:D047868 xref: NCI:C5656 is_a: DOID:490 ! hemangioma of lung is_a: DOID:495 ! sclerosing hemangioma [Term] id: DOID:5767 name: hilar lung neoplasm synonym: "lung Hilum tumor" EXACT [] synonym: "neoplasm of hilus of lung" EXACT [] xref: NCI:C5671 xref: RDO:9002005 is_a: DOID:3683 ! lung benign neoplasm created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:5768 name: Nager acrofacial dysostosis alt_id: MIM:154400 def: "An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children. (DO)" [http://en.wikipedia.org/wiki/Nager_acrofacial_dysostosis "DO", http://ghr.nlm.nih.gov/condition/nager-syndrome "DO", https://www.faces-cranio.org/nager "DO"] synonym: "Acrofacial Dysostosis 1, Nager Type" EXACT [] synonym: "Acrofacial Dysostosis, Nager Type" EXACT [] synonym: "AFD" EXACT [] synonym: "AFD1" EXACT [] synonym: "AFD, Nager type" EXACT [] synonym: "Mandibulofacial dysostosis, Treacher Collins type, with limb anomalies" EXACT [] synonym: "Nager Acrofacial Dysostosis Syndrome" EXACT [] synonym: "Nager syndrome" EXACT [] synonym: "preaxial acrofacial dysostosis" EXACT [] synonym: "preaxial mandibulofacial dysostosis" EXACT [] synonym: "preaxial manibulofacial dysostosis" EXACT [] xref: GARD:498 xref: MESH:C538184 xref: NCI:C35795 is_a: DOID:0060379 ! acrofacial dysostosis is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:5769 name: verruciform xanthoma of skin synonym: "cutaneous Verruciform Xanthoma" EXACT [] synonym: "verruciform xanthoma" EXACT [] xref: NCI:C4478 is_a: DOID:3345 ! xanthomatosis is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5772 name: central nervous system hematologic cancer def: "A hematologic cancer and central nervous system neoplasm that is located_in the central nervous system. (DO)" [https://www.merckmanuals.com/professional/ear\,-nose\,-and-throat-disorders/tumors-of-the-head-and-neck/jaw-tumors "DO"] synonym: "CNS hematopoietic tumor" EXACT [] synonym: "hematopoietic neoplasm of central nervous system" RELATED [] xref: NCI:C5503 is_a: DOID:2531 ! hematologic cancer is_a: DOID:3620 ! central nervous system cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5773 name: oral submucous fibrosis def: "A mouth disease that is characterized by juxta-epithelial inflammatory reaction and progressive fibrosis of the submucosal tissues. (DO)" [https://en.wikipedia.org/wiki/Oral_submucous_fibrosis "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6627879/ "DO"] synonym: "EFO:1001818" EXACT [] synonym: "Oral cavity Submucous Fibrosis" EXACT [] synonym: "oral submucosal fibrosis" EXACT [] synonym: "oral submucosal fibrosis, including of tongue" EXACT [] synonym: "Oral Submucous Fibroses" EXACT [] xref: EFO:1001818 xref: GARD:7264 xref: ICD10CM:K13.5 xref: ICD9CM:528.8 xref: MESH:D009914 xref: NCI:C34866 is_a: DOID:403 ! mouth disease [Term] id: DOID:5774 name: giant hemangioma xref: NCI:C27777 is_a: DOID:483 ! cavernous hemangioma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5775 name: cavernous hemangioma of colon synonym: "colonic cavernous hemangioma" EXACT [] xref: NCI:C5395 xref: RDO:9004570 is_a: DOID:483 ! cavernous hemangioma is_a: DOID:5353 ! colonic disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5776 name: cavernous hemangioma of face synonym: "EFO:1000152" EXACT [] xref: EFO:1000152 xref: NCI:C7053 xref: RDO:9004571 is_a: DOID:483 ! cavernous hemangioma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5777 name: rectum neuroendocrine neoplasm synonym: "neuroendocrine tumor of rectum" EXACT [] xref: NCI:C5698 is_a: DOID:1984 ! rectal benign neoplasm is_a: DOID:1993 ! rectum cancer is_a: DOID:4119 ! intestinal neuroendocrine benign tumor created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5781 name: atrophic flaccid tympanic membrane xref: ICD10CM:H73.81 xref: ICD9CM:384.81 is_a: DOID:5782 ! tympanic membrane disease [Term] id: DOID:5782 name: tympanic membrane disease xref: EFO:0009570 xref: ICD10CM:H73.9 xref: ICD9CM:384.9 is_a: DOID:5100 ! middle ear disease [Term] id: DOID:5784 name: esophageal neuroendocrine tumor synonym: "esophageal neuroendocrine tumour" EXACT [] synonym: "neuroendocrine tumor of esophagus" EXACT [] synonym: "neuroendocrine tumour of oesophagus" EXACT [] xref: NCI:C5821 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:5041 ! esophageal cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:5789 name: mixed hepatoblastoma synonym: "mixed epithelial and mesenchymal hepatoblastoma" EXACT [] xref: NCI:C7097 xref: RDO:9004067 is_a: DOID:687 ! hepatoblastoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:5798 name: macrotrabecular hepatoblastoma xref: NCI:C7095 xref: RDO:9004068 is_a: DOID:687 ! hepatoblastoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:580 name: uric acid nephrolithiasis alt_id: MIM:605990 def: "A nephrolithiasis that is characterized by stones composed predominantly uric acid. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831527/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4100778/ "DO"] synonym: "acute urate nephropathy" EXACT [] synonym: "acute uric acid nephropathy" RELATED [] synonym: "chronic urate nephropathy" RELATED [] synonym: "urate nephropathy" EXACT [] synonym: "uric acid nephrolithiasis, susceptibility to" RELATED [] synonym: "uric acid nephropathy" EXACT [] synonym: "uric acid urolithiasis" EXACT [] synonym: "uric acid urolithiasis, susceptibility to" RELATED [] xref: ICD9CM:274.11 xref: NCI:C123037 xref: NCI:C123245 is_a: DOID:585 ! nephrolithiasis [Term] id: DOID:5804 name: discrete subaortic stenosis def: "A type of constriction that is caused by the presence of a fibrous ring (discrete type) below the AORTIC VALVE, anywhere between the aortic valve and the MITRAL VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA." [MESH:D021922] synonym: "Discrete Subaortic Stenoses" EXACT [] xref: EFO:1000901 xref: MESH:D021922 is_a: DOID:5805 ! subvalvular aortic stenosis [Term] id: DOID:5805 name: subvalvular aortic stenosis def: "An aortic valve stenosis that is characterized by a narrowing of the section of the heart under the aortic valve resulting in left ventricular outflow obstruction. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26731888 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29377232 "DO"] synonym: "aortic subvalvular stenoses" EXACT [] synonym: "subaortic stenosis" EXACT [] xref: EFO:1001199 xref: GARD:5052 xref: MESH:D001020 xref: NCI:C85172 is_a: DOID:1712 ! aortic valve stenosis [Term] id: DOID:5806 name: stork bite alt_id: MIM:163100 alt_id: RDO:0015583 alt_id: RDO:9004510 synonym: "erythema nuchae" EXACT [] synonym: "nevus flammeus of nape and neck" EXACT [] synonym: "salmon patch nevus" EXACT [] synonym: "Unna's nevus" EXACT [] synonym: "Unna Nevus" EXACT [] xref: MESH:C567524 is_a: DOID:2725 ! capillary hemangioma is_a: DOID:9001616 ! Port-Wine Stain created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5809 name: childhood parosteal osteogenic sarcoma xref: ICD-O:M9180/3 xref: NCI:C6589 is_a: DOID:3373 ! parosteal osteosarcoma [Term] id: DOID:5810 name: adenosine deaminase deficiency alt_id: MIM:102700 def: "A severe combined immunodeficiency that is caused by a defective enzyme, adenosine deaminase (ADA), necessary for the breakdown of purines. Lack of ADA causes accumulation of dATP. (DO)" [http://en.wikipedia.org/wiki/Severe_combined_immunodeficiency "DO", https://pubmed.ncbi.nlm.nih.gov/2166947/ "DO", https://pubmed.ncbi.nlm.nih.gov/2783588/ "DO"] synonym: "ADA" EXACT [] synonym: "ADA deficiency" EXACT [] synonym: "ADA-SCID" EXACT [] synonym: "adenosine deaminase deficient severe combined immunodeficiency" EXACT [] synonym: "adenosine deaminase-deficient severe combined immunodeficiency disease" EXACT [] synonym: "agammaglobulinemia, Swiss type" EXACT [] synonym: "Bubble boy disease" EXACT [] synonym: "Delayed-Late-Onset Adenosine Deaminase Deficiency" EXACT [] synonym: "PARTIAL ADA DEFICIENCY" NARROW [] synonym: "partial adenosine deaminase deficiency" NARROW [] synonym: "SCID1" EXACT [] synonym: "SCID due to ADA deficiency" EXACT [] synonym: "SCID Due to ADA Deficiency, Delayed Onset" EXACT [] synonym: "SCID Due to ADA Deficiency, Early-Onset" EXACT [] synonym: "SCID DUE TO ADA DEFICIENCY, EARLY-ONSET SCID DUE TO ADA DEFICIENCY, DELAYED ONSET" NARROW [] synonym: "SCID DUE TO ADA DEFICIENCY, LATE-ONSET" NARROW [] synonym: "severe combined immunodeficiency, alymphocytotic type" EXACT [] synonym: "severe combined immunodeficiency, autosomal recessive, T-cell-negative, B-cell-negative, NK-cell-negative, due to adenosine deaminase deficiency" EXACT [] synonym: "severe combined immunodeficiency due to ADA deficiency" EXACT [] synonym: "severe combined immunodeficiency due to adenosine deaminase deficiency" EXACT [] xref: EFO:0009147 xref: GARD:5748 xref: ICD10CM:D81.30 xref: MESH:C531816 xref: NCI:C3962 is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:5812 name: MHC class II deficiency def: "A severe combined immunodeficiency that is characterized by deficiency of MHC class II molecules that causes lack of immune protection against bacteria, viruses, and fungi and thus causes early death in childhood, and has_material_basis_in autosomal recessive inheritance of mutation in the CIITA, RFX5, RFXANK, and RFXAP genes. (DO)" [https://ghr.nlm.nih.gov/condition/bare-lymphocyte-syndrome-type-ii "DO", https://www.omim.org/entry/209920 "DO"] synonym: "BLS" EXACT [] xref: ICD10CM:D81.6 xref: MIM:PS209920 xref: NCI:C3895 is_a: DOID:627 ! severe combined immunodeficiency created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:5813 name: purine nucleoside phosphorylase deficiency def: "A combined T cell and B cell immunodeficiency that is a rare autosomal recessive metabolic disorder that has_material_basis_in mutation in the PNP gene and characterized mainly by decreased T-cell function. (DO)" [http://en.wikipedia.org/wiki/Purine_nucleoside_phosphorylase_deficiency "DO", https://pubmed.ncbi.nlm.nih.gov/1384322/ "DO", https://pubmed.ncbi.nlm.nih.gov/3029074/ "DO"] synonym: "deficiency of inosine phosphorylase" EXACT [] synonym: "nucleoside phosphorylase deficiency" EXACT [] synonym: "nucleoside phosphorylase polymorphism" RELATED [] synonym: "PNP deficiency" EXACT [] xref: GARD:4606 xref: ICD10CM:D81.5 xref: MESH:C562587 xref: MIM:613179 xref: MONDO:0013171 xref: NCI:C176817 xref: NCI:C3963 xref: ORDO:760 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:5815 name: cerebral lymphoma def: "A cerebrum cancer that affects the lymph cells and derives_from the brain. (DO)" [http://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma "DO", http://www.cancer.gov/cancertopics/pdq/treatment/primary-CNS-lymphoma/Patient/page1 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000734.htm "DO", https://www.ncbi.nlm.nih.gov/pubmed/10563426 "DO"] synonym: "brain primary lymphoma" EXACT [] synonym: "primary cerebral lymphoma" EXACT [] synonym: "primary Lymphoma of Cerebrum" EXACT [] xref: NCI:C7611 is_a: DOID:0060058 ! lymphoma is_a: DOID:368 ! cerebrum cancer is_a: DOID:5772 ! central nervous system hematologic cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:582 name: hemoglobinuria def: "The presence of free HEMOGLOBIN in the URINE, indicating hemolysis of ERYTHROCYTES within the vascular system. After saturating the hemoglobin-binding proteins (HAPTOGLOBINS), free hemoglobin begins to appear in the urine." [MESH:D006456] xref: ICD10CM:R82.3 xref: ICD9CM:791.2 xref: MESH:D006456 xref: NCI:C34677 is_a: DOID:576 ! proteinuria is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:5820 name: composite lymphoma def: "A lymphoma that begins in cells of the immune system in which different types of lymphoma cells occur at the same time. (DO)" [http://www.cancer.gov/dictionary/?CdrID=633086 "DO"] synonym: "composite lymphomas" EXACT [] synonym: "EFO:0007215" EXACT [] xref: EFO:0007215 xref: MESH:D058617 xref: NCI:C38661 is_a: DOID:0060058 ! lymphoma is_a: DOID:707 ! B-cell lymphoma is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:5821 name: methotrexate-associated lymphoproliferation xref: NCI:C7184 is_a: DOID:0060058 ! lymphoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5822 name: gray zone lymphoma def: "A lymphoma that is characterized by having cellular features of both classic Hodgkin's lymphomas and large B-cell Lymphomas. (DO)" [http://en.wikipedia.org/wiki/Gray_zone_lymphoma "DO"] xref: GARD:10897 xref: NCI:C37869 xref: RDO:9004789 is_a: DOID:0060058 ! lymphoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5823 name: childhood lymphoma synonym: "pediatric lymphoma" EXACT [] xref: ICD-O:M9590/3 xref: MONDO:0003659 xref: NCI:C5165 is_a: DOID:0060058 ! lymphoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5825 name: adult lymphoma xref: NCI:C7587 is_a: DOID:0060058 ! lymphoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5826 name: breast lymphoma def: "A breast cancer that arises_from lymphocytes. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26380896 "DO"] synonym: "lymphoma of breast" EXACT [] synonym: "lymphoma of the breast" EXACT [] synonym: "malignant lymphoma of breast" EXACT [] is_a: DOID:0060058 ! lymphoma is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:5828 name: endometrioid ovary carcinoma def: "An ovary adenocarcinoma that has_material_basis_in endometrial tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25120828 "DO"] synonym: "EFO:1000416" EXACT [] synonym: "endometrioid carcinoma of ovary" EXACT [] synonym: "Ovarian Endometrioid Adenocarcinoma with Squamous Differentiation" NARROW [] synonym: "ovarian endometrioid carcinoma" EXACT [] xref: EFO:1000416 xref: EFO:1000417 xref: EFO:1001515 xref: NCI:C7979 is_a: DOID:3713 ! ovary adenocarcinoma is_a: DOID:9004265 ! Endometrioid Carcinomas created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:5829 name: uterine ligament endometrioid adenocarcinoma def: "A uterine ligament adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. (DO)" [https://journals.sagepub.com/doi/pdf/10.1177/1066896915622690 "DO"] xref: NCI:C40138 is_a: DOID:3700 ! uterine ligament adenocarcinoma created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:583 name: hemolytic anemia def: "A normocytic anemia that is characterized by the rate of descruction of red blood cells exceeding the rate than they can be made. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/hemolytic-anemia "DO", MESH:D000743] synonym: "acquired hemolytic anemia" EXACT [] synonym: "DIEGO BLOOD GROUP ANTIGEN" RELATED [] synonym: "HEMOGLOBIN ABRAHAM LINCOLN" RELATED [] synonym: "Hemoglobin Bucuresti" RELATED [] synonym: "HEMOGLOBIN DRENTHE" RELATED [] synonym: "HEMOGLOBIN GENOVA" RELATED [] synonym: "HEMOGLOBIN HYOGO" RELATED [] synonym: "HEMOGLOBIN ISEHARA" RELATED [] synonym: "HEMOGLOBIN KOBE" RELATED [] synonym: "Hemoglobin Louisville" RELATED [] synonym: "HEMOGLOBIN MANHATTAN" RELATED [] synonym: "HEMOGLOBIN MIZUHO" RELATED [] synonym: "Hemoglobin Nijkerk" RELATED [] synonym: "HEMOGLOBIN OLMSTED" RELATED [] synonym: "HEMOGLOBIN PERTH" RELATED [] synonym: "HEMOGLOBIN REDONDO" RELATED [] synonym: "HEMOGLOBIN SABINE" RELATED [] synonym: "HEMOGLOBIN VOLGA" RELATED [] synonym: "HEMOGLOBIN ZURICH" RELATED [] synonym: "microangiopathic anemia" EXACT [] synonym: "microangiopathic hemolytic anemia" EXACT [] synonym: "severe hemolytic anemia" NARROW [] xref: EFO:0005558 xref: ICD10CM:D55-D59 xref: MESH:D000743 xref: NCI:C34376 is_a: DOID:720 ! normocytic anemia [Term] id: DOID:5830 name: cervical endometrioid adenocarcinoma def: "A cervical adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23722512 "DO"] synonym: "EFO:1000164" EXACT [] synonym: "endometrioid carcinoma of the cervix uteri" EXACT [] xref: EFO:1000164 xref: NCI:C6343 is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:5831 name: fallopian tube endometrioid adenocarcinoma def: "A fallopian tube adenocarcinoma that derives_from endometrial epithelial cells of glandular origin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8946874 "DO"] synonym: "endometrioid carcinoma of the fallopian tube" EXACT [] synonym: "fallopian tube endometrioid cancer" EXACT [] synonym: "fallopian tube endometrioid neoplasm" RELATED [] xref: NCI:C40111 xref: NCI:C6279 is_a: DOID:3706 ! fallopian tube adenocarcinoma is_a: DOID:9004265 ! Endometrioid Carcinomas created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:5834 name: spermatocytoma synonym: "spermatocytic seminoma" EXACT [] xref: NCI:C39921 is_a: DOID:2998 ! testicular cancer is_a: DOID:4440 ! seminoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5838 name: extragonadal seminoma synonym: "primary extragonadal seminoma" EXACT [] xref: NCI:C7327 is_a: DOID:4440 ! seminoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5842 name: testis seminoma synonym: "EFO:0003101" EXACT [] synonym: "seminoma of testis" EXACT [] synonym: "testicular seminoma pure" EXACT [] xref: EFO:0003101 xref: NCI:C7328 xref: NCI:C9309 is_a: DOID:4440 ! seminoma is_a: DOID:5556 ! testicular malignant germ cell cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5843 name: posteroinferior myocardial infarction xref: NCI:C36068 xref: RDO:9001869 is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5844 name: myocardial infarction alt_id: MIM:608446 alt_id: MIM:608557 def: "A coronary artery disease characterized by myocardial cell death (myocardial necrosis) due to prolonged ischaemia. (DO)" [https://en.wikipedia.org/wiki/Myocardial_infarction "DO", https://www.ncbi.nlm.nih.gov/pubmed/17951287 "DO"] synonym: "Cardiovascular Stroke" EXACT [] synonym: "cardiovascular strokes" EXACT [] synonym: "F7-RELATED CONDITION" BROAD [] synonym: "heart attack" EXACT [] synonym: "Heart Attacks" EXACT [] synonym: "MCI1" NARROW [] synonym: "MCI2" NARROW [] synonym: "Myocardial Infarct" EXACT [] synonym: "MYOCARDIAL INFARCTION, DECREASED SUSCEPTIBILITY TO" RELATED [] synonym: "MYOCARDIAL INFARCTION, PROTECTION AGAINST" RELATED [] synonym: "Myocardial Infarctions" EXACT [] synonym: "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO" RELATED [] synonym: "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO, 2" RELATED [] synonym: "myocardial infarcts" EXACT [] synonym: "post-operative myocardial infarction" NARROW [] xref: EFO:0000612 xref: EFO:0009953 xref: MESH:D009203 xref: NCI:C27996 is_a: DOID:3393 ! coronary artery disease is_a: DOID:9007102 ! Myocardial Ischemia [Term] id: DOID:5845 name: anterolateral myocardial infarction def: "MYOCARDIAL INFARCTION in which the anterior wall of the heart is involved. Anterior wall myocardial infarction is often caused by occlusion of the left anterior descending coronary artery. It can be categorized as anteroseptal or anterolateral wall myocardial infarction." [MESH:D056988] synonym: "acute anterior wall myocardial infarction" EXACT [] synonym: "anterior wall myocardial infarction" EXACT [] synonym: "anterolateral myocardial infarctions" EXACT [] xref: EFO:1000812 xref: MESH:D056988 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5846 name: septal myocardial infarction xref: RDO:9001870 is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5847 name: posterior myocardial infarction is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5848 name: apical myocardial infarction xref: NCI:C36073 is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5849 name: subendocardial myocardial infarction xref: NCI:C35305 xref: RDO:9001873 is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:585 name: nephrolithiasis def: "A kidney disease characterized by the formation of stoney concentrations in the kidneys. (DO)" [https://ghr.nlm.nih.gov/condition/kidney-stones "DO", https://medlineplus.gov/kidneystones.html "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2518455/ "DO"] synonym: "calcium oxalate urolithiasis" EXACT [] synonym: "calculus of kidney and ureter" EXACT [] synonym: "NEPHROLITHIASIS, CALCIUM OXALATE" EXACT [] synonym: "stone - kidney/ureter" EXACT [] synonym: "UAN" EXACT [] xref: EFO:0004253 xref: ICD10CM:N20 xref: ICD9CM:592 xref: MESH:D053040 is_a: DOID:0080653 ! urolithiasis is_a: DOID:557 ! kidney disease [Term] id: DOID:5850 name: inferior myocardial infarction def: "MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery." [MESH:D056989] synonym: "Acute Inferior Myocardial Infarction" EXACT [] synonym: "Diaphragmatic Myocardial Infarction" EXACT [] synonym: "diaphragmatic myocardial infarctions" EXACT [] synonym: "Inferior Myocardial Infarctions" EXACT [] synonym: "inferior wall myocardial infarction" EXACT [] xref: EFO:1000983 xref: MESH:D056989 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:5851 name: posterolateral myocardial infarction xref: NCI:C35672 xref: RDO:9001874 is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5852 name: inferolateral myocardial infarct synonym: "inferolateral myocardial infarction" EXACT [] xref: NCI:C35673 xref: RDO:9001875 is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5853 name: lateral myocardial infarction is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5854 name: silent myocardial infarction xref: NCI:C35400 is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:5855 name: anteroseptal myocardial infarction synonym: "anteroseptal myocardial infarctions" EXACT [] is_a: DOID:5845 ! anterolateral myocardial infarction created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5859 name: periosteal chondrosarcoma xref: ICDO:9221/3 is_a: DOID:3371 ! chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5861 name: myxoid chondrosarcoma xref: ICDO:9231/3 xref: MONDO:0003681 xref: NCI:C4303 is_a: DOID:3371 ! chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5862 name: localized chondrosarcoma xref: NCI:C8778 xref: RDO:9004145 is_a: DOID:3371 ! chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5866 name: juxtacortical chondrosarcoma xref: NCI:C7357 is_a: DOID:3371 ! chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5867 name: clear cell chondrosarcoma xref: ICDO:9242/3 xref: MESH:D000077207 xref: NCI:C6475 is_a: DOID:3371 ! chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5870 name: eosinophilic pneumonia def: "A pneumonia in which certain type of white blood cell called an eosinophil accumulates in the lung. These cells cause disruption of the normal air spaces (alveoli) where oxygen is extracted from the atmosphere. It is caused by certain medications or environmental triggers, parasitic infections, and cancer. The most common symptoms include cough, fever, difficulty breathing, and sweating at night. (DO)" [http://en.wikipedia.org/wiki/Eosinophilic_pneumonia "DO"] xref: EFO:0007257 xref: GARD:107 xref: ICD10CM:J82 xref: NCI:C35150 is_a: DOID:552 ! pneumonia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:5874 name: retroperitoneal germ cell neoplasm synonym: "germ cell tumor of Retroperitoneum" EXACT [NCI2004_11_17:C6447] xref: NCI:C6447 is_a: DOID:5875 ! retroperitoneal cancer [Term] id: DOID:5875 name: retroperitoneal cancer def: "A thoracic cancer located_in the retroperitoneal space in the abdominal cavity behind the peritoneum. (DO)" [http://en.wikipedia.org/wiki/Retroperitoneal_space "DO"] synonym: "EFO:0007466" EXACT [] synonym: "malignant neoplasm of retroperitoneum" EXACT [] synonym: "malignant neoplasm of retroperitoneum and peritoneum" EXACT [] synonym: "malignant retroperitoneal cancer" EXACT [] synonym: "malignant tumor of peritoneum and retroperitoneum" EXACT [] xref: EFO:0007466 xref: ICD10CM:C48 xref: ICD10CM:C48.0 xref: ICD9CM:158 xref: ICD9CM:158.0 xref: NCI:C3357 xref: NCI:C3537 is_a: DOID:5093 ! thoracic cancer is_a: DOID:9004476 ! Retroperitoneal Neoplasms created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:5876 name: apocrine sweat gland neoplasm synonym: "apocrine tumor" EXACT [] xref: NCI:C6798 is_a: DOID:2664 ! sweat gland benign neoplasm created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:5877 name: endocardium cancer synonym: "malignant endocardial tumor" EXACT [] synonym: "malignant neoplasm of endocardium" EXACT [] synonym: "malignant tumor of endocardium" EXACT [] xref: NCI:C4570 xref: NCI:C5346 is_a: DOID:0050825 ! endocardium disease is_a: DOID:117 ! heart cancer created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:5884 name: benign intermediate mesothelioma synonym: "Well-differentiated Papillary tumor of Mesothelium" EXACT [NCI2004_11_17:C7635] xref: NCI:C7635 xref: RDO:9004678 is_a: DOID:2645 ! benign mesothelioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:5889 name: anaplastic ependymoma synonym: "undifferentiated ependymoma" EXACT [] xref: ICDO:9392/3 is_a: DOID:5074 ! high grade ependymoma created_by: mtutaj creation_date: 2021-02-24T23:17:11Z [Term] id: DOID:589 name: congenital hemolytic anemia def: "Hemolytic anemia due to various intrinsic defects of the erythrocyte." [MESH:D000745] synonym: "ANEMIA, NEONATAL HEMOLYTIC, FATAL AND NEAR-FATAL" EXACT [] synonym: "congenital hemolytic anaemia" EXACT [] synonym: "congenital hemolytic anemias" EXACT [] synonym: "hemoglobin Cheverly" RELATED [] synonym: "HEMOGLOBIN I (TOULOUSE)" RELATED [] synonym: "HEMOGLOBIN ISTANBUL" RELATED [] synonym: "HEMOGLOBIN SAINT ETIENNE" RELATED [] synonym: "HEMOGLOBIN SANTA ANA" RELATED [] synonym: "HEMOGLOBIN TOULOUSE" RELATED [] synonym: "HEMOGLOBIN WASHTENAW" RELATED [] synonym: "hereditary hemolytic anaemia" EXACT [] synonym: "Hereditary Hemolytic Anemia" EXACT [] synonym: "hereditary hemolytic anemias" EXACT [] xref: GARD:6167 xref: ICD10CM:D58.9 xref: ICD9CM:282 xref: MESH:D000745 xref: NCI:C34379 is_a: DOID:0080015 ! physical disorder is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:5890 name: malignant adult ependymoma xref: NCI:C8269 is_a: DOID:5074 ! high grade ependymoma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:5893 name: childhood malignant mesenchymoma xref: ICD-O:M8990/3 xref: NCI:C8097 is_a: DOID:5758 ! malignant mesenchymoma [Term] id: DOID:5894 name: adult malignant mesenchymoma xref: NCI:C7947 is_a: DOID:5758 ! malignant mesenchymoma [Term] id: DOID:5895 name: clear cell cystadenofibroma def: "A cystadenofibroma that is characterized by the presence of cells with clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/514560 "DO"] xref: NCI:C8988 is_a: DOID:5482 ! cystadenofibroma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5896 name: ovarian clear cell cystadenofibroma def: "An ovarian clear cell adenofibroma that is characterized by the presence of cysts and/or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6692303 "DO"] xref: NCI:C40086 is_a: DOID:5897 ! ovarian clear cell adenofibroma [Term] id: DOID:5897 name: ovarian clear cell adenofibroma def: "An ovarian benign neoplasm that is characterized by the presence of serous fluid and has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28861185 "DO"] xref: NCI:C40085 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:5900 name: meningeal melanocytoma def: "A central nervous system benign neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. (DO)" [https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us "DO"] synonym: "leptomeningeal melanocytoma" EXACT [] synonym: "melanocytoma of meninges" EXACT [] xref: EFO:1000370 xref: EFO:1000493 xref: ICDO:8728/1 xref: NCI:C4662 xref: ORDO:252046 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:4955 ! central nervous system melanocytic neoplasm [Term] id: DOID:5907 name: penis non-invasive verrucous carcinoma synonym: "non-invasive penile verrucous carcinoma" EXACT [] xref: NCI:C27791 is_a: DOID:5908 ! penis verrucous carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:5908 name: penis verrucous carcinoma synonym: "verrucous squamous carcinoma of penis" EXACT [] xref: NCI:C6982 is_a: DOID:3737 ! verrucous carcinoma is_a: DOID:5518 ! penis squamous cell carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:591 name: phobic disorder def: "An anxiety disorder where fear and anxiety are triggered by a specific stimulus or situation. (DO)" [http://en.wikipedia.org/wiki/Anxiety_disorder "DO"] synonym: "Claustrophobia" EXACT [] synonym: "claustrophobias" EXACT [] synonym: "Phobia" EXACT [] synonym: "phobias" EXACT [] synonym: "phobic disorders" EXACT [] synonym: "Phobic Neuroses" EXACT [] synonym: "school phobia" EXACT [] synonym: "school phobias" EXACT [] xref: EFO:1001908 xref: ICD10CM:F40 xref: ICD9CM:300.20 xref: MESH:D010698 xref: NCI:C35420 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:5913 name: brachial plexus neoplasm synonym: "tumor of the brachial plexus" EXACT [] xref: NCI:C5823 is_a: DOID:4693 ! nerve plexus neoplasm [Term] id: DOID:5914 name: diffuse sclerosing papillary thyroid carcinoma def: "A papillary thyroid carcinoma that is characterized by diffuse infiltration of the thyroid gland by malignant follicular cells, squamous metaplasia, stromal fibrosis, and lymphocytic infiltration. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36546348/ "DO", https://pubmed.ncbi.nlm.nih.gov/36995892/ "DO"] synonym: "diffuse sclerosing papillary carcinoma" EXACT [] synonym: "Diffuse sclerosing papillary thyroid cancer (DSPTC)" EXACT [] synonym: "diffuse sclerosing PTC" EXACT [] synonym: "diffuse sclerosing variant thyroid gland papillary carcinoma" EXACT [] synonym: "nonencapsulated sclerosing carcinoma" EXACT [] synonym: "nonencapsulated sclerosing neoplasm" EXACT [] xref: ICDO:8350/3 xref: MONDO:0003701 xref: NCI:C7427 is_a: DOID:3969 ! papillary thyroid carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:5915 name: uterus intravascular leiomyomatosis def: "An uterine corpus leiomyomatosis that is located_in the blood vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8950762 "DO"] synonym: "intravascular leiomyomatosis of uterus" EXACT [] xref: RDO:9004479 is_a: DOID:5916 ! uterine corpus leiomyomatosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5916 name: uterine corpus leiomyomatosis def: "An uterine benign neoplasm that is characterized by the presence of multiple tumors composed of smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23383444 "DO", https://www.uptodate.com/contents/variants-of-uterine-leiomyomas-fibroids "DO"] xref: NCI:C40170 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:5138 ! leiomyomatosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5917 name: uterine corpus diffuse leiomyomatosis def: "An uterine corpus leiomyomatosis that is located throughout the uterine corpus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18754301 "DO"] xref: RDO:9004486 is_a: DOID:5916 ! uterine corpus leiomyomatosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5921 name: adult brainstem mixed glioma synonym: "adult brain stem mixed glioma" EXACT [NCI2004_11_17:C9371] xref: NCI:C9371 is_a: DOID:4813 ! adult brain stem glioma [Term] id: DOID:5922 name: adult brainstem astrocytoma xref: NCI:C6954 is_a: DOID:4813 ! adult brain stem glioma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:5923 name: distal biliary tract carcinoma synonym: "carcinoma of the Distal biliary tract" EXACT [NCI2004_11_17:C7109] xref: NCI:C7109 is_a: DOID:4897 ! bile duct carcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:5926 name: extrahepatic bile duct small cell adenocarcinoma synonym: "oat cell extrahepatic bile duct carcinoma" EXACT [] xref: NCI:C5845 is_a: DOID:3495 ! extrahepatic bile duct adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:593 name: agoraphobia def: "A phobic disorder involving the specific anxiety about being in a place or situation where escape is difficult or embarrassing or where help may be unavailable. (DO)" [http://en.wikipedia.org/wiki/Anxiety_disorder "DO"] synonym: "Agoraphobias" EXACT [] synonym: "fear of open spaces" EXACT [] xref: EFO:1001872 xref: ICD10CM:F40.0 xref: MESH:D000379 xref: NCI:C34362 is_a: DOID:591 ! phobic disorder relationship: part_of DOID:9000623 ! panic disorder with agoraphobia [Term] id: DOID:5936 name: ovarian mixed germ cell neoplasm def: "An ovarian primitive germ cell tumor that is characterized by the presence of two or more types of malignant, primitive, germ cell components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25366470 "DO"] synonym: "mixed germ cell tumor of ovary" EXACT [] xref: NCI:C8114 xref: RDO:9003448 is_a: DOID:3306 ! mixed germ cell cancer is_a: DOID:5351 ! ovarian primitive germ cell tumor created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:594 name: panic disorder alt_id: MIM:167870 alt_id: MIM:607853 alt_id: MIM:609985 def: "An anxiety disorder that is characterized by unexpected and repeated episodes of intense fear accompanied by physical symptoms that may include chest pain, heart palpitations, shortness of breath, dizziness, or abdominal distress. (DO)" [http://www.nimh.nih.gov/health/topics/panic-disorder/index.shtml "DO"] synonym: "catechol-o-methyltransferase polymorphism" RELATED [] synonym: "PAND1" NARROW [] synonym: "PAND2" NARROW [] synonym: "PAND3" NARROW [] synonym: "panic anxiety syndrome" EXACT [] synonym: "Panic Attack" EXACT [] synonym: "Panic Attacks" EXACT [] synonym: "panic disorder 1" NARROW [] synonym: "panic disorder 2" NARROW [] synonym: "panic disorder 3" NARROW [] synonym: "Panic Disorders" EXACT [] synonym: "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 13q-RELATED" RELATED [] synonym: "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 4q-RELATED" RELATED [] synonym: "PANIC DISORDER SUSCEPTIBILITY LOCUS, CHROMOSOME 9q-RELATED" RELATED [] synonym: "panic disorder with joint laxity" NARROW [] synonym: "panic disorder without agoraphobia" NARROW [] xref: EFO:0004262 xref: EFO:1001907 xref: ICD10CM:F41.0 xref: MESH:D016584 xref: MIM:PS167870 xref: NCI:C34890 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:5940 name: malignant peripheral nerve sheath tumor synonym: "malignant neoplasm of the peripheral nerve sheath" EXACT [] synonym: "malignant peripheral nerve sheath tumors" EXACT [] synonym: "Malignant Peripheral Nerve Sheath Tumor with Mesenchymal Differentiation" NARROW [] xref: EFO:0000194 xref: EFO:0000760 xref: EFO:1000361 xref: GARD:10872 xref: ICDO:9540/3 xref: NCI:C125415 xref: NCI:C3798 is_a: DOID:3193 ! peripheral nerve sheath neoplasm is_a: DOID:956 ! peripheral nerve schwannoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:5948 name: angiokeratoma of mibelli xref: MONDO:0003712 xref: NCI:C3927 is_a: DOID:479 ! angiokeratoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5949 name: angiokeratoma circumscriptum xref: NCI:C7751 is_a: DOID:479 ! angiokeratoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:5957 name: bladder urachal squamous cell carcinoma xref: NCI:C39845 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:5958 ! bladder urachal carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:5958 name: bladder urachal carcinoma xref: NCI:C39842 is_a: DOID:11817 ! urachus cancer is_a: DOID:4007 ! bladder carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:5973 name: kidney pelvis papillary carcinoma def: "A papillary carcinoma that is located_in the kidney pelvis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/13056223 "DO"] synonym: "papillary carcinoma of renal pelvis" EXACT [] xref: NCI:C6148 is_a: DOID:3113 ! papillary carcinoma is_a: DOID:5974 ! renal pelvis transitional cell carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5974 name: renal pelvis transitional cell carcinoma synonym: "EFO:0003017" EXACT [] synonym: "urothelial cell carcinoma of renal pelvis" EXACT [] xref: EFO:0003017 xref: NCI:C7355 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:4919 ! renal pelvis carcinoma is_a: DOID:9000614 ! upper tract urothelial carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:5975 name: renal pelvis papillary tumor synonym: "papillary neoplasm of renal pelvis" EXACT [] xref: NCI:C8603 is_a: DOID:2615 ! papilloma is_a: DOID:5977 ! renal pelvis benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5976 name: occlusion precerebral artery synonym: "Occlusion and stenosis of multiple and bilateral precerebral arteries" RELATED [] synonym: "occlusion and stenosis of precerebral artery" RELATED [] xref: EFO:0009677 xref: ICD10CM:I65.9 xref: ICD9CM:433.9 is_a: DOID:6713 ! cerebrovascular disease created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:5977 name: renal pelvis benign neoplasm synonym: "neoplasm of renal pelvis" EXACT [] synonym: "tumor of kidney pelvis" EXACT [] synonym: "tumor of renal pelvis" EXACT [] xref: EFO:1000118 xref: NCI:C8404 is_a: DOID:3116 ! kidney benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:5982 name: kidney fibrosarcoma synonym: "fibrosarcoma of the kidney" EXACT [] xref: NCI:C7726 is_a: DOID:3355 ! fibrosarcoma is_a: DOID:4242 ! kidney sarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:5983 name: kidney osteogenic sarcoma def: "A kidney sarcoma that starts in the bones and that is located in the kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1768219 "DO"] synonym: "renal osteogenic sarcoma" EXACT [] xref: NCI:C6181 is_a: DOID:3347 ! osteosarcoma is_a: DOID:4242 ! kidney sarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:599 name: specific phobia alt_id: MIM:608251 def: "A phobic disorder that is characterized by an unreasonable or irrational fear related to exposure to specific objects or situations. (DO)" [http://en.wikipedia.org/wiki/Specific_phobia "DO"] synonym: "blood-injection-injury phobia" NARROW [] synonym: "simple phobia" EXACT [] xref: EFO:1001878 xref: EFO:1001918 xref: ICD10CM:F40.2 xref: MESH:C562465 xref: NCI:C35284 is_a: DOID:591 ! phobic disorder [Term] id: DOID:5990 name: internal auditory canal meningioma synonym: "meningioma of the internal auditory canal" EXACT [] xref: NCI:C5307 is_a: DOID:3565 ! meningioma is_a: DOID:5102 ! inner ear cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:5997 name: non-proliferative fibrocystic change of the breast def: "A breast fibrocystic disease that is characterized by the absence of epithelial cell hyperplasia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27483712 "DO"] synonym: "non-proliferative fibrocystic change" EXACT [] xref: NCI:C6943 is_a: DOID:10354 ! breast fibrocystic disease [Term] id: DOID:5998 name: microglandular adenosis def: "A breast disease that is characterized by a haphazard infiltration of small, uniformly open, and round glands which are lined by a monolayer of flat to cuboidal epithelial cells that lack a myoepithelial layer, the absence of stromal desmoplasia and the presence of a thickened basement membrane. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3148517/ "DO"] synonym: "adenosis of breast" EXACT [] synonym: "adenosis of the breast" EXACT [] synonym: "breast adenosis" EXACT [] synonym: "microglandular adenoses" EXACT [] xref: EFO:0006891 xref: NCI:C3484 is_a: DOID:3463 ! breast disease [Term] id: DOID:5999 name: apocrine adenosis of breast def: "A non-proliferative fibrocystic change of the breast that is characterized by sclerosing adenosis with apocrine change. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20123450 "DO"] synonym: "apocrine adenosis of the breast" EXACT [] xref: NCI:C5198 is_a: DOID:5997 ! non-proliferative fibrocystic change of the breast [Term] id: DOID:600 name: animal phobia def: "A specific phobia that involves a fear caused by the presence or thought of a specific animal that poses little or no danger at all. (DO)" [http://hubpages.com/hub/list-of-animal-phobias "DO"] synonym: "fear of animals" EXACT [] synonym: "zoophobia" EXACT [] xref: EFO:1001876 xref: MESH:C000719220 xref: NCI:C35273 is_a: DOID:599 ! specific phobia [Term] id: DOID:6000 name: congestive heart failure def: "A heart disease that is characterized by any structural or functional cardiac disorder that impairs the ability of the heart to fill with or pump a sufficient amount of blood throughout the body. (DO)" [http://en.wikipedia.org/wiki/Heart_disease "DO"] synonym: "advanced heart failure" NARROW [] synonym: "Beta-2-adrenoreceptor agonist, reduced response to" RELATED [] synonym: "Cardiac Failure" EXACT [] synonym: "CHF" EXACT [] synonym: "Chronic Heart Failure" NARROW [] synonym: "congestive cardiac failure" EXACT [] synonym: "congestive heart disease" EXACT [] synonym: "Congestive heart failure and beta-blocker response, modifier of" RELATED [] synonym: "Congestive heart failure, modifier of" RELATED [] synonym: "Heart Decompensation" EXACT [] synonym: "Heart Failure" EXACT [] synonym: "high output heart failure" NARROW [] synonym: "left sided heart failure" NARROW [] synonym: "moderate heart failure" NARROW [] synonym: "Myocardial Failure" EXACT [] synonym: "right sided heart failure" NARROW [] synonym: "symptomatic heart failure" NARROW [] synonym: "weak heart" EXACT [] xref: EFO:0000373 xref: EFO:0003144 xref: EFO:0003145 xref: EFO:0003146 xref: EFO:0003148 xref: EFO:0003149 xref: ICD10CM:I50 xref: ICD10CM:I50.9 xref: ICD9CM:428 xref: ICD9CM:428.0 xref: MESH:D006333 xref: NCI:C3080 xref: NCI:C50577 is_a: DOID:114 ! heart disease [Term] id: DOID:60000 name: appendix disease def: "A gastrointestinal system disease that is located_in the appendix. (DO)" [https://en.wikipedia.org/wiki/Appendix "DO", https://www.ncbi.nlm.nih.gov/pubmed/15807474 "DO"] xref: EFO:0009542 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:60001 name: pulmonary artery disease def: "An artery disease that is located in the lungs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23737196 "DO"] is_a: DOID:0050828 ! artery disease is_a: DOID:850 ! lung disease [Term] id: DOID:60002 name: Bartholin's gland disease def: "A female reproductive system disease that is located in Bartholin's gland. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26195958 "DO"] xref: EFO:0009469 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:60003 name: Bartholin's gland cancer def: "A vulva cancer that is located in Bartholin's gland. (DO)" [https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma "DO"] synonym: "EFO:1000103" EXACT [] xref: EFO:1000103 is_a: DOID:1245 ! vulva cancer is_a: DOID:60002 ! Bartholin's gland disease [Term] id: DOID:60004 name: malignant cystadenoma is_a: DOID:0080364 ! malignant adenoma is_a: DOID:305 ! carcinoma [Term] id: DOID:60006 name: benign vascular tumor is_a: DOID:0060091 ! cardiovascular organ benign neoplasm [Term] id: DOID:60007 name: cerebrovascular benign neoplasm def: "A cardiovascular organ benign neoplasm that is located_in the cerebrovascular system. (DO)" [https://en.wikipedia.org/wiki/Cerebral_circulation "DO", https://www.cancer.gov/publications/dictionaries/cancer-terms/def/benign-vascular-tumor "DO"] is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:60008 name: parathyroid gland benign neoplasm def: "An endocrine organ benign neoplasm that is located_in some parathyroid gland. (DO)" [https://www.hopkinsmedicine.org/health/conditions-and-diseases/parathyroid-tumor "DO"] synonym: "parathyroid benign neoplasm" EXACT [] xref: NCI:C3630 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:9004331 ! Parathyroid Neoplasms [Term] id: DOID:60009 name: pituitary gland benign neoplasm def: "A benign neoplasm located in the pituitary gland. (DO)" [https://www.mayoclinic.org/diseases-conditions/pituitary-tumors/symptoms-causes/syc-20350548 "DO"] is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:9002234 ! Pituitary Neoplasms [Term] id: DOID:6001 name: breast fibrosarcoma def: "A breast sarcoma that arises from fibrous connective tissue and is characterized by the presence of immature proliferating fibroblasts or undifferentiated anaplastic spindle cells in a storiform pattern. (DO)" [https://en.wikipedia.org/wiki/Fibrosarcoma "DO"] synonym: "fibrosarcoma of the breast" EXACT [] xref: NCI:C5185 is_a: DOID:3017 ! breast sarcoma is_a: DOID:3355 ! fibrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6003 name: aleukemic leukemia cutis def: "An aleukemic leukemia that is characterized by the infiltration of the skin and subcutaneous tissue by leukemic cells without evidence of leukemia in the bone marrow and peripheral blood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4983 "DO"] xref: NCI:C4983 is_a: DOID:6004 ! aleukemic leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6004 name: aleukemic leukemia def: "A leukemia that arises from changes in the tissues forming white blood cells and characterized by the absence of leukemic cells in the peripheral blood. (DO)" [http://www.merriam-webster.com/medical/aleukemic%20leukemia "DO", https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4982 "DO"] synonym: "aleukemic myelosis" EXACT [] xref: NCI:C4982 is_a: DOID:1240 ! leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6015 name: adult central nervous system teratoma synonym: "teratoma of the adult central nervous system" EXACT [] xref: NCI:C5794 xref: RDO:9004036 is_a: DOID:3640 ! central nervous system teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6016 name: adult central nervous system mature teratoma xref: NCI:C27400 is_a: DOID:6015 ! adult central nervous system teratoma is_a: DOID:6017 ! central nervous system mature teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6017 name: central nervous system mature teratoma def: "A mature teratoma that is located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21150046 "DO"] synonym: "mature teratoma of the CNS" EXACT [] xref: NCI:C7013 is_a: DOID:3640 ! central nervous system teratoma is_a: DOID:5566 ! mature teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6018 name: adult central nervous system immature teratoma xref: NCI:C27401 is_a: DOID:6015 ! adult central nervous system teratoma is_a: DOID:6019 ! central nervous system immature teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6019 name: central nervous system immature teratoma def: "A malignant teratoma that is located_in the central nervous system. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21150046 "DO"] synonym: "immature teratoma of the CNS" EXACT [] xref: NCI:C7014 is_a: DOID:3640 ! central nervous system teratoma is_a: DOID:5563 ! malignant teratoma is_a: DOID:5566 ! mature teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:602 name: cancerophobia synonym: "cancer phobia" EXACT [] synonym: "fear of getting cancer" EXACT [] xref: EFO:1001879 xref: NCI:C35492 is_a: DOID:0060048 ! nosophobia [Term] id: DOID:6024 name: selective IgE deficiency disease def: "A dysgammaglobulinemia that is characterized by isolated deficiency of IgE and subsequent mildly increased susceptibility to parasitic infections and allergic or autoimmune-related diseases. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24717782 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28778662 "DO"] synonym: "Selective IgE Immunodeficiency" EXACT [NCI2004_11_17:C27143] synonym: "Selective immunoglobulin E deficiency" EXACT [SNOMEDCT_2005_07_31:234540007] xref: NCI:C27143 xref: RDO:9002612 is_a: DOID:11702 ! dysgammaglobulinemia created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:6025 name: selective immunoglobulin deficiency disease def: "A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27870 "DO", https://www.ncbi.nlm.nih.gov/books/NBK507905/ "DO"] xref: NCI:C27870 xref: RDO:9004115 is_a: DOID:2115 ! B cell deficiency created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:603 name: AIDS phobia xref: EFO:1001873 xref: NCI:C35614 is_a: DOID:0060048 ! nosophobia [Term] id: DOID:6032 name: juvenile type testicular granulosa cell tumor synonym: "juvenile granulosa cell tumor" EXACT [] synonym: "juvenile granulosa cell tumour" EXACT [] synonym: "juvenile type granulosa cell neoplasm" EXACT [] synonym: "Juvenile type granulosa cell tumor" EXACT [] synonym: "Juvenile type Granulosa cell tumour" EXACT [] synonym: "juvenile type testicular granulosa cell tumour" EXACT [] xref: NCI:C39947 xref: NCI:C4207 is_a: DOID:4757 ! testicular sex cord-stromal neoplasm is_a: DOID:5331 ! testicular granulosa cell tumor created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6033 name: heart fibrosarcoma synonym: "cardiac fibrosarcoma" EXACT [] synonym: "fibrosarcoma of the heart" EXACT [] xref: NCI:C5361 is_a: DOID:3355 ! fibrosarcoma is_a: DOID:5262 ! heart sarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6034 name: heart malignant hemangiopericytoma def: "A heart sarcoma that is a soft tissue sarcoma located in the heart. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16434949 "DO"] synonym: "malignant hemangiopericytoma of heart" EXACT [] xref: NCI:C5365 is_a: DOID:5262 ! heart sarcoma is_a: DOID:9000235 ! Malignant Hemangiopericytoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6037 name: spindle cell intraocular melanoma def: "An ocular malanoma that derives_from melanocytes in the uveal tract that results_in_formation_of spindle-shaped cells. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page3 "DO"] synonym: "uveal spindle cell melanoma" EXACT [] xref: NCI:C7986 is_a: DOID:1752 ! ocular melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:6039 name: uveal melanoma alt_id: MIM:155720 alt_id: MIM:606660 alt_id: MIM:606661 def: "A uveal cancer that has_material_basis_in uvea pigment cells. (DO)" [http://cancergenome.nih.gov/cancersselected/UvealMelanoma "DO", http://en.wikipedia.org/wiki/Uveal_melanoma "DO"] synonym: "CHOROIDAL MELANOMA" NARROW [] synonym: "EFO:1000616" EXACT [] synonym: "melanoma of the uvea" EXACT [] synonym: "melanoma of uvea" EXACT [] synonym: "uveal melanoma, susceptibility to, 1" NARROW [] synonym: "uveal melanoma, susceptibility to, 2" NARROW [] synonym: "UVM1" NARROW [] synonym: "UVM2" NARROW [] xref: EFO:1000616 xref: HP:0012054 xref: MESH:C536494 xref: NCI:C7712 xref: ORDO:39044 is_a: DOID:1909 ! melanoma is_a: DOID:3479 ! uveal cancer [Term] id: DOID:6041 name: choroid spindle cell melanoma def: "A malignant choroid melanoma that is located_in the choroid. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/allpages/print "DO"] synonym: "spindle cell melanoma of the choroid" EXACT [] xref: NCI:C6099 is_a: DOID:1752 ! ocular melanoma is_a: DOID:3162 ! malignant spindle cell melanoma is_a: DOID:6039 ! uveal melanoma is_a: DOID:6438 ! malignant choroid melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:6043 name: ciliary body spindle cell melanoma def: "A ciliary body cancer that is located_in the ciliary body and composed of spindled neoplastic cells arranged in sheets and fascicles. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3968473/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/17545559/ "DO"] synonym: "spindle cell melanoma of the Ciliary body" EXACT [NCI2004_11_17:C6117] xref: NCI:C6117 is_a: DOID:4352 ! ciliary body cancer is_a: DOID:7328 ! iris spindle cell melanoma [Term] id: DOID:6048 name: telangiectatic glomangioma xref: NCI:C5345 xref: RDO:9004602 is_a: DOID:2435 ! skin glomangioma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:605 name: flying phobia def: "A specific phobia that is characterized by a fear of flying. (DO)" [http://en.wikipedia.org/wiki/Fear_of_flying "DO"] synonym: "aerophobia" EXACT [] xref: EFO:1001889 xref: ICD10CM:F40.243 xref: MESH:C000719189 xref: NCI:C35413 is_a: DOID:599 ! specific phobia [Term] id: DOID:6050 name: esophageal disease def: "A gastrointestinal system disease that is located_in the esophagus. (DO)" [http://en.wikipedia.org/wiki/Esophageal_disease "DO"] synonym: "esophageal diseases" EXACT [] synonym: "esophageal ulcer" NARROW [] xref: EFO:0009544 xref: ICD10CM:K22.9 xref: ICD9CM:530.9 xref: MESH:D004935 xref: NCI:C3027 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:6052 name: central nervous system childhood germ cell tumor synonym: "central nervous system childhood germ cell tumour" EXACT [] synonym: "paediatric germ cell neoplasm of CNS" EXACT [] synonym: "pediatric germ cell neoplasm of CNS" EXACT [] xref: ICD-O:M9064/3 xref: MONDO:0003750 xref: NCI:C6205 is_a: DOID:4439 ! central nervous system germ cell tumor is_a: DOID:6053 ! childhood germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6053 name: childhood germ cell cancer def: "A germ cell cancer that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23559398 "DO"] synonym: "paediatric germ cell cancer" EXACT [] synonym: "paediatric germ cell neoplasm" EXACT [] synonym: "pediatric germ cell cancer" EXACT [] synonym: "pediatric germ cell neoplasm" EXACT [] synonym: "pediatric germ cell tumor" EXACT [] xref: NCI:C7928 is_a: DOID:2994 ! germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6054 name: frontal sinus Schneiderian papilloma synonym: "Schneiderian papilloma of the frontal sinus" EXACT [] xref: NCI:C6837 is_a: DOID:1361 ! frontal sinus benign neoplasm is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6059 name: nasal vestibule papilloma synonym: "papilloma of nasal vestibule" EXACT [SNOMEDCT_2005_07_31:232364006] synonym: "squamous papilloma of the nasal Vestibule" EXACT [NCI2004_11_17:C4369] xref: NCI:C4369 xref: RDO:9003786 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:2615 ! papilloma is_a: DOID:9007971 ! Nose Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:606 name: Brown-Sequard syndrome def: "A syndrome associated with injury to the lateral half of the spinal cord. The condition is characterized by the following clinical features (which are found below the level of the lesion): contralateral hemisensory anesthesia to pain and temperature, ipsilateral loss of propioception, and ipsilateral motor paralysis. Tactile sensation is generally spared. (From Adams et al., Principles of Neurology, 6th ed, p162)." [MESH:D018437] synonym: "Brown Sequard's Disease" EXACT [] synonym: "Brown Sequard's Paralysis" EXACT [] synonym: "Brown Sequard's Syndrome" EXACT [] synonym: "Brown Sequard Disease" EXACT [] synonym: "Brown-Sequard Paralysis" EXACT [] synonym: "Brown-Sequards Disease" EXACT [] synonym: "Brown-Sequards Paralysis" EXACT [] synonym: "Brown-Sequards Syndrome" EXACT [] synonym: "Brown-Squard syndrome" EXACT [] synonym: "Hemicord Syndrome" EXACT [] synonym: "hemicord syndromes" EXACT [] synonym: "Hemiparaplegic Syndrome" EXACT [] synonym: "Hemiparaplegic Syndromes" EXACT [] synonym: "Hemispinal Cord Syndrome" EXACT [] synonym: "Hemispinal Cord Syndromes" EXACT [] synonym: "spastic spinal monoplegia syndrome" EXACT [] xref: EFO:1001279 xref: GARD:5964 xref: ICD10CM:G83.81 xref: MESH:D018437 xref: NCI:C84601 is_a: DOID:225 ! syndrome is_a: DOID:607 ! paraplegia [Term] id: DOID:6065 name: urinary tract non-invasive transitional cell neoplasm xref: NCI:C39854 is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6067 name: ovarian mucinous neoplasm def: "An ovary epithelial cancer that is characterized by the presence of mucin. (DO)" [https://en.wikipedia.org/wiki/Ovarian_mucinous_tumor "DO"] synonym: "Borderline Ovarian Mucinous Tumor" NARROW [] synonym: "malignant ovarian mucinous neoplasm" EXACT [] synonym: "mucinous tumor of ovary" EXACT [] synonym: "ovarian mucinous tumor" EXACT [] xref: EFO:1000138 xref: NCI:C40033 xref: NCI:C5242 is_a: DOID:2152 ! ovary epithelial cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:607 name: paraplegia def: "Severe or complete loss of motor function in the lower extremities and lower portions of the trunk. This condition is most often associated with SPINAL CORD DISEASES, although BRAIN DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; and MUSCULAR DISEASES may also cause bilateral leg weakness." [MESH:D010264] synonym: "Ataxic Paraplegia" EXACT [] synonym: "ataxic paraplegias" EXACT [] synonym: "Cerebral Paraplegia" EXACT [] synonym: "Cerebral Paraplegias" EXACT [] synonym: "Flaccid Paraplegia" EXACT [] synonym: "Flaccid Paraplegias" EXACT [] synonym: "lower paraplegia" EXACT [] synonym: "Paralysis, Legs" EXACT [] synonym: "Paralysis, Lower Extremities" EXACT [] synonym: "Paralysis, Lower Limbs" EXACT [] synonym: "Paraplegias" EXACT [] synonym: "Spastic Paraplegia" EXACT [] synonym: "Spastic Paraplegias" EXACT [] synonym: "Spinal Paraplegia" EXACT [] synonym: "spinal paraplegias" EXACT [] xref: EFO:0009679 xref: GARD:7327 xref: ICD10CM:G82.2 xref: ICD9CM:344.1 xref: MESH:D010264 xref: NCI:C50687 is_a: DOID:331 ! central nervous system disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:6082 name: childhood testicular germ cell tumor synonym: "paediatric testicular germ cell neoplasm" EXACT [] synonym: "paediatric testicular germ cell tumour" EXACT [] synonym: "pediatric testicular germ cell neoplasm" EXACT [] synonym: "pediatric testicular germ cell tumor" EXACT [] xref: NCI:C6552 is_a: DOID:5557 ! testicular germ cell cancer created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6083 name: childhood ovarian endodermal sinus tumor def: "An ovarian endodermal sinus tumor that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8649322 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9949591 "DO"] synonym: "childhood ovarian endodermal sinus neoplasm" EXACT [] synonym: "childhood ovarian endodermal sinus tumour" EXACT [] synonym: "childhood ovarian yolk sac tumor" EXACT [] synonym: "childhood ovarian yolk sac tumour" EXACT [] synonym: "paediatric Ovarian Yolk Sac tumour" EXACT [] synonym: "pediatric ovarian yolk sac tumor" EXACT [] xref: ICD-O:M9071/3 xref: NCI:C6551 xref: RDO:9005069 is_a: DOID:5350 ! ovarian endodermal sinus tumor created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:6084 name: childhood ovarian germ cell tumor def: "An ovarian germ cell cancer that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24395845 "DO"] synonym: "paediatric ovarian germ cell neoplasm" EXACT [] synonym: "paediatric ovarian germ cell tumour" EXACT [] synonym: "pediatric ovarian germ cell neoplasm" EXACT [] synonym: "pediatric ovarian germ cell tumor" EXACT [] xref: NCI:C8588 is_a: DOID:2156 ! ovarian germ cell cancer created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6085 name: meningeal melanoma synonym: "melanoma of the leptomeninges" EXACT [] xref: ICDO:8720/3 xref: NCI:C5317 is_a: DOID:6086 ! malignant leptomeningeal neoplasm created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6086 name: malignant leptomeningeal neoplasm synonym: "leptomeningeal cancer" EXACT [] synonym: "malignant leptomeningeal tumor" EXACT [] synonym: "malignant leptomeningeal tumour" EXACT [] synonym: "malignant tumor of leptomeninges" EXACT [] synonym: "malignant tumour of leptomeninges" EXACT [] xref: NCI:C8506 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6088 name: acute stress disorder def: "An anxiety disorder that has_symptom flashbacks, has_symptom bad dreams, has_symptom frightening thoughts, has_symptom avoidance or has_symptom hyperarousal of PTSD occurring within one month of a traumatic experience as Acute Stress Disorder or ASD. (DO)" [http://ptsd.about.com/od/causesanddevelopment/a/acutestress.htm "DO"] synonym: "acute stress reaction" EXACT [] synonym: "traumatic stress disorder" EXACT [] synonym: "traumatic stress disorders" EXACT [] xref: EFO:0005223 xref: ICD9CM:308.3 xref: MESH:D040921 is_a: DOID:2030 ! anxiety disorder is_a: DOID:9004763 ! Trauma and Stressor Related Disorders [Term] id: DOID:6089 name: childhood leptomeningeal melanoma synonym: "pediatric leptomeningeal melanoma" EXACT [] xref: ICD-O:M8720/3 xref: NCI:C5318 is_a: DOID:6085 ! meningeal melanoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6090 name: adult leptomeningeal melanoma synonym: "melanoma of adult Leptomeninges" EXACT [NCI2004_11_17:C5319] xref: NCI:C5319 xref: RDO:9004628 is_a: DOID:6085 ! meningeal melanoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6098 name: thalamic neoplasm synonym: "malignant neoplasm of thalamus" EXACT [] synonym: "malignant tumor of thalamus" EXACT [] synonym: "tumor of thalamus" EXACT [] xref: NCI:C4576 xref: NCI:C6221 is_a: DOID:3843 ! diencephalic neoplasm created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:61 name: mitral valve disease synonym: "chronic rheumatic mitral valve" EXACT [] synonym: "disease of mitral valve" EXACT [] synonym: "Mitral RH valve dis." EXACT [] synonym: "rheumatic disease of mitral valve" EXACT [] synonym: "Rheumatic mitral insufficiency" EXACT [] synonym: "rheumatic mitral valve changes" EXACT [] synonym: "rheumatic mitral valve incompetence" EXACT [] synonym: "rheumatic mitral valve regurgitation" EXACT [] xref: EFO:0009557 xref: ICD10CM:I05 xref: ICD10CM:I05.1 xref: ICD9CM:394 xref: ICD9CM:394.1 xref: ICD9CM:424.0 xref: NCI:C78446 is_a: DOID:4079 ! heart valve disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:6101 name: signet ring cell variant cervical mucinous adenocarcinoma def: "A cervical mucinous adenocarcinoma that is characterized by the presence of signet ring cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4802128/ "DO"] xref: NCI:C40205 is_a: DOID:3701 ! cervical mucinous adenocarcinoma [Term] id: DOID:6102 name: herpetic gastritis def: "A viral gastritis that involves inflammation of the stomach lining caused by herpes simplex virus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1063088 "DO"] xref: NCI:C27341 is_a: DOID:2327 ! viral gastritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:6103 name: thoracic spinal canal and spinal cord meningioma synonym: "meningioma of the thoracic spinal canal and spinal cord" EXACT [] xref: NCI:C5297 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:6110 name: jugular foramen meningioma synonym: "meningioma of the jugular foramen" EXACT [] xref: NCI:C5293 xref: RDO:9004629 is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6112 name: cerebral meningioma synonym: "meningioma of cerebrum" EXACT [] xref: NCI:C4807 is_a: DOID:0060106 ! brain meningioma is_a: DOID:368 ! cerebrum cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6113 name: intracerebral cystic meningioma xref: NCI:C5269 is_a: DOID:6112 ! cerebral meningioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6114 name: cerebral convexity meningioma synonym: "cerebral hemispheric convexity meningioma" EXACT [] xref: NCI:C4959 xref: RDO:9004707 is_a: DOID:6112 ! cerebral meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6115 name: lateral ventricle meningioma synonym: "meningioma of the lateral ventricle" EXACT [] xref: NCI:C5302 is_a: DOID:3772 ! intraventricular meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6118 name: renal pelvis inverted papilloma synonym: "Inverted papilloma of the kidney Pelvis" EXACT [NCI2004_11_17:C6187] xref: NCI:C6187 xref: RDO:9004448 is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm is_a: DOID:6119 ! renal pelvis urothelial papilloma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6119 name: renal pelvis urothelial papilloma xref: NCI:C4528 xref: RDO:9004447 is_a: DOID:5975 ! renal pelvis papillary tumor created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:612 name: primary immunodeficiency disease alt_id: MESH:D007153 alt_id: MIM:242850 def: "An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation. (DO)" [http://www.nichd.nih.gov/publications/pubs/primary_immuno.cfm#PrimaryImmunoDiseases "DO"] synonym: "antibody deficiency syndrome" EXACT [] synonym: "antibody deficiency syndromes" EXACT [] synonym: "hypoimmunity" EXACT [] synonym: "immune deficiency disorder" EXACT [] synonym: "immunodeficiency syndrome" EXACT [] synonym: "immunological deficiency syndrome" EXACT [] synonym: "immunological deficiency syndromes" EXACT [] synonym: "immunologic deficiency syndrome" EXACT [] synonym: "immunologic deficiency syndromes" EXACT [] synonym: "inherited immunodeficiency diseases" EXACT [] synonym: "PRIMARY IMMUNE DEFICIENCY" EXACT [] synonym: "primary immunodeficiency diseases" EXACT [] synonym: "primary immunodeficiency disorder" EXACT [] xref: ICD10CM:D84.9 xref: ICD9CM:279.3 xref: MESH:D000081207 xref: MIM:PS300755 xref: NCI:C3131 xref: NCI:C39725 is_a: DOID:225 ! syndrome is_a: DOID:2914 ! immune system disease [Term] id: DOID:6126 name: anal canal carcinoma alt_id: MIM:105580 def: "An anal canal cancer that derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO", http://www.cancer.org/docroot/CRI/content/CRI_2_4_1X_What_is_anal_cancer_47.asp "DO"] synonym: "anal canal and perianal gland carcinoma" EXACT [] synonym: "carcinoma of anal canal" EXACT [] xref: MESH:C563020 xref: NCI:C7489 is_a: DOID:0050688 ! anal canal cancer is_a: DOID:4908 ! anal carcinoma [Term] id: DOID:6128 name: gliomatosis cerebri def: "A brain cancer that is characterized by a pattern of diffuse infiltration of the brain that affect various areas of the cerebral lobes and has_material_basis_in abnormally proliferating cells, derives_from glial cells. (DO)" [https://en.wikipedia.org/wiki/Gliomatosis_cerebri "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5545748/ "DO"] synonym: "astrocytosis cerebri" EXACT [] xref: GARD:6514 xref: ICDO:9381/3 xref: NCI:C4318 is_a: DOID:1319 ! brain cancer [Term] id: DOID:6132 name: bronchitis def: "A bronchial disease that is an inflammation of the bronchial tubes. It is caused by bacteria and viruses. The disease has_symptom cough with mucus, has_symptom shortness of breath, has_symptom low fever and has_symptom chest tightness. (DO)" [http://www.nhlbi.nih.gov/health/dci/Diseases/brnchi/brnchi_whatis.html "DO", http://www.nlm.nih.gov/medlineplus/bronchitis.html "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchitis "DO"] synonym: "acute bronchitis" EXACT [] synonym: "acute bronchitis and bronchiolitis" RELATED [] synonym: "Bronchitides" EXACT [] synonym: "chest cold" EXACT [] synonym: "chest infection" EXACT [] synonym: "chronic bronchitis" EXACT [] synonym: "CI - chest infection" EXACT [] synonym: "RECURRENT BRONCHITIS" NARROW [] synonym: "recurrent wheezy bronchitis" EXACT [] xref: EFO:0009661 xref: ICD10CM:J20 xref: ICD10CM:J40 xref: ICD10CM:J42 xref: ICD9CM:466.0 xref: ICD9CM:490 xref: ICD9CM:491 xref: MESH:D001991 xref: NCI:C26722 xref: NCI:C26932 xref: NCI:C2911 is_a: DOID:1176 ! bronchial disease is_a: DOID:2320 ! obstructive lung disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:6139 name: uterine corpus epithelioid leiomyosarcoma def: "A uterus leiomyosarcoma characterized by the presence of round epithelioid, rhabdoid and large vacuolated cells intermingled with spindled cells and clear or eosinophilic cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3339182/ "DO"] xref: NCI:C40174 xref: RDO:9005037 is_a: DOID:5264 ! epithelioid leiomyosarcoma is_a: DOID:5289 ! uterus leiomyosarcoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:614 name: lymphopenia def: "A leukopenia that is the condition of having an abnormally low level of lymphocytes in the blood. (DO)" [http://en.wikipedia.org/wiki/Lymphopenia "DO"] synonym: "lymphocytopenia" EXACT [] synonym: "lymphocytopenias" EXACT [] synonym: "lymphopenias" EXACT [] xref: ICD10CM:D72.810 xref: ICD9CM:288.51 xref: MESH:D008231 xref: MONDO:0003783 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:615 ! leukopenia [Term] id: DOID:6148 name: nasal cavity carcinoma in situ def: "An in situ carcinoma that is located_in the nasal cavity. (DO)" [http://www.cancerresearchuk.org/about-cancer/nasal-sinus-cancer/stages-grades/nasal-cavity-number-stages "DO"] synonym: "carcinoma in situ of nasal cavities" EXACT [] synonym: "carcinoma in situ of nasal cavity" EXACT [] synonym: "stage 0 carcinoma of the nasal cavity" EXACT [] xref: ICD10CM:D02.3 is_a: DOID:4931 ! nasal cavity carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:615 name: leukopenia def: "A leukocyte disorder that is characterized by a decrease in the number of white blood cells (leukocytes) found in the blood, which places individuals at increased risk of infection. (DO)" [http://en.wikipedia.org/wiki/Leukopenia "DO"] synonym: "leucopenia" EXACT [] synonym: "leukocytopenia" EXACT [] synonym: "leukocytopenias" EXACT [] synonym: "leukopenias" EXACT [] xref: EFO:0004233 xref: ICD10CM:D72.819 xref: ICD9CM:288.50 xref: MESH:D007970 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:6160 name: childhood choriocarcinoma of the testis def: "A choriocarcinoma of the testis that is present during childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4204242/ "DO"] synonym: "pediatric testicular choriocarcinoma" EXACT [] xref: NCI:C6544 is_a: DOID:5551 ! choriocarcinoma of the testis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6161 name: childhood testicular mixed germ cell tumor synonym: "childhood testicular mixed germ cell tumour" EXACT [] synonym: "paediatric testicular mixed germ cell tumour" EXACT [] synonym: "pediatric testicular mixed germ cell tumor" EXACT [] xref: NCI:C6542 is_a: DOID:4743 ! mixed testicular germ cell tumor [Term] id: DOID:6162 name: childhood embryonal testis carcinoma def: "An embryonal testis carcinoma that occurs in children. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma#Testicular_embryonal_carcinoma "DO"] synonym: "childhood embryonal carcinoma of the testis" RELATED [] synonym: "pediatric testicular Embryonal carcinoma" EXACT [] xref: ICD-O:M9070/3 xref: NCI:C6545 xref: RDO:9003728 is_a: DOID:5680 ! embryonal testis carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6163 name: familial renal papillary carcinoma synonym: "hereditary papillary renal carcinoma" EXACT [] xref: NCI:C9222 is_a: DOID:3113 ! papillary carcinoma is_a: DOID:4455 ! hereditary renal cell carcinoma [Term] id: DOID:6166 name: prostatic urethra urothelial carcinoma def: "An urothelial carcinoma that arises from the urothelial lining of the prostatic urethra. (NCI)" [] xref: NCI:C39900 is_a: DOID:6167 ! prostatic urethral cancer [Term] id: DOID:6167 name: prostatic urethral cancer xref: NCI:C39870 is_a: DOID:736 ! male urethral cancer [Term] id: DOID:6170 name: ovarian carcinosarcoma def: "A malignant ovarian surface epithelial-stromal neoplasm that is a mixed cell type cancer that has_material_basis_in carcinomatous (epithelial tissue) and sarcomatous (connective tissue) components. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4938474/ "DO"] synonym: "EFO:1000412" EXACT [] synonym: "malignant mixed Müllerian tumor of the ovary" EXACT [] synonym: "ovarian malignant mesodermal (mullerian) mixed tumor" EXACT [] synonym: "ovarian malignant mixed epithelial mesenchymal tumor" EXACT [] synonym: "ovarian malignant mixed Mullerian tumor" EXACT [] synonym: "ovarian malignant mixed Müllerian tumor" EXACT [] synonym: "ovarian MMMT" EXACT [] xref: EFO:1000412 xref: GARD:7296 xref: NCI:C9192 xref: ORDO:213512 is_a: DOID:2151 ! malignant ovarian surface epithelial-stromal neoplasm created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:6171 name: uterine carcinosarcoma def: "A uterine body mixed cancer that has_material_basis_in both endometrial carcinoma and sarcoma. (DO)" [http://cancergenome.nih.gov/cancersselected/UterineCarcinosarcoma "DO", http://en.wikipedia.org/wiki/Carcinosarcoma "DO"] synonym: "Carcinosarcoma of uterus" EXACT [] synonym: "EFO:1000613" EXACT [] synonym: "malignant mixed mesodermal (Mullerian) tumor" EXACT [] synonym: "malignant mixed Mullerian tumor" EXACT [] synonym: "Malignant mixed Mullerian tumour of uterus" EXACT [] synonym: "mixed mesodermal (Mullerian) tumor" EXACT [] synonym: "mixed mullerian sarcoma of uterus" EXACT [] synonym: "MMMT" EXACT [] synonym: "Mullerian mixed tumor" EXACT [] xref: EFO:1000613 xref: GARD:12335 xref: MESH:D018200 xref: NCI:C42700 xref: ORDO:213610 is_a: DOID:4114 ! uterine body mixed cancer is_a: DOID:4236 ! carcinosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:6175 name: mediastinal neurilemmoma alt_id: DOID:7922 def: "A neurilemmoma located_in the mediastinum. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25992358 "DO"] synonym: "benign mediastinal neurilemmoma" EXACT [] synonym: "benign schwannoma of mediastinum" EXACT [] synonym: "schwannoma of mediastinum" EXACT [] xref: NCI:C6625 xref: NCI:C6643 is_a: DOID:3192 ! neurilemmoma is_a: DOID:4691 ! malignant mediastinal neurogenic neoplasm is_a: DOID:956 ! peripheral nerve schwannoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6179 name: ovarian small cell carcinoma def: "An ovarian carcinoma that is an undifferentiated neoplasm composed of primitive-appearing cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3858994/ "DO"] synonym: "EFO:1000431" EXACT [] synonym: "small cell carcinoma of the ovary, hypercalcemic type" RELATED [] xref: EFO:1000431 xref: GARD:10411 xref: NCI:C27390 is_a: DOID:4001 ! ovarian carcinoma [Term] id: DOID:6190 name: rectum Kaposi's sarcoma def: "A sarcoma of the rectum that results_in lesions that are located_in the rectum. (DO)" [http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp "DO"] synonym: "Kaposi's sarcoma of rectum" EXACT [] synonym: "rectum Kaposi sarcoma" EXACT [] xref: NCI:C5550 is_a: DOID:1995 ! rectum sarcoma is_a: DOID:8632 ! Kaposi's sarcoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6192 name: malignant inflammatory fibrous histiocytoma synonym: "EFO:1000608" EXACT [] synonym: "inflammatory MFH" EXACT [] synonym: "xanthosarcoma" EXACT [] xref: EFO:1000608 xref: NCI:C6497 is_a: DOID:1907 ! malignant fibrous histiocytoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:6193 name: epithelioid sarcoma def: "A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue. (DO)" [https://en.wikipedia.org/wiki/Epithelioid_sarcoma "DO", https://www.mayoclinic.org/diseases-conditions/epithelioid-sarcoma/cdc-20392420 "DO"] synonym: "epithelioid cell sarcoma" EXACT [] synonym: "epithelioid sarcomas" EXACT [] xref: GARD:10181 xref: ICDO:8804/3 xref: NCI:C3714 is_a: DOID:1115 ! sarcoma is_a: DOID:201 ! connective tissue cancer is_a: DOID:3350 ! mesenchymal cell neoplasm created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6195 name: conjunctivitis def: "A conjunctival disease characterized by an inflammation of the conjunctiva, the outermost layer of the eye and the inner surface of the eyelids. (DO)" [http://en.wikipedia.org/wiki/Conjunctivitis "DO"] synonym: "conjunctivitides" EXACT [] synonym: "Madras eye" RELATED [] xref: EFO:0009450 xref: ICD10CM:H10 xref: ICD9CM:372.30 xref: MESH:D003231 xref: NCI:C34504 is_a: DOID:4251 ! conjunctival disease [Term] id: DOID:6196 name: reactive arthritis def: "An arthritis that is an autoimmune disease which develops due to an infection located elsewhere in the body. (DO)" [http://en.wikipedia.org/wiki/Reactive_arthritis "DO", http://www.about-reactive-arthritis.com/ "DO", http://www.mayoclinic.com/health/reactive-arthritis/DS00486/DSECTION=causes "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000440.htm "DO"] synonym: "Fiessinger Leroy Reiter syndrome" EXACT [] synonym: "post-bacterial arthropathy" EXACT [] synonym: "postdysenteric arthropathy" EXACT [] synonym: "Post-Infectious Arthritides" EXACT [] synonym: "Postinfectious Arthritides" EXACT [] synonym: "Post Infectious Arthritis" EXACT [] synonym: "Postinfectious Arthritis" EXACT [] synonym: "Reactive Arthritides" EXACT [] synonym: "Reiter's Disease" EXACT [] synonym: "Reiter Disease" EXACT [] synonym: "Reiters Disease" EXACT [] synonym: "Reiter Syndrome" EXACT [] xref: EFO:0007460 xref: GARD:5693 xref: ICD10CM:M02.10 xref: ICD10CM:M02.3 xref: ICD9CM:099.3 xref: ICD9CM:711.30 xref: MESH:D016918 xref: NCI:C34975 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:1123 ! spondyloarthropathy is_a: DOID:813 ! septic arthritis [Term] id: DOID:6197 name: conventional malignant hemangiopericytoma xref: NCI:C9425 is_a: DOID:9000235 ! Malignant Hemangiopericytoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6198 name: corneal intraepithelial neoplasm xref: NCI:C6093 is_a: DOID:10124 ! corneal disease is_a: DOID:5465 ! conjunctival intraepithelial neoplasm created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6199 name: cornea cancer synonym: "corneal tumor" EXACT [] synonym: "malignant corneal tumor" EXACT [] synonym: "malignant neoplasm of cornea" EXACT [] synonym: "malignant tumor of cornea" EXACT [] synonym: "neoplasm of cornea" EXACT [] xref: ICD10CM:C69.1 xref: ICD9CM:190.4 xref: NCI:C3565 xref: NCI:C4361 is_a: DOID:10124 ! corneal disease is_a: DOID:2174 ! ocular cancer [Term] id: DOID:62 name: aortic valve disease def: "A heart valve disease that is located_in the aortic valve. (DO)" [https://www.mayoclinic.org/diseases-conditions/aortic-valve-disease/symptoms-causes/syc-20355117 "DO"] synonym: "aortic heart disease" EXACT [] synonym: "aortic valve disorder" EXACT [] synonym: "aortic valvular heart disease" EXACT [] synonym: "aortic valvular heart disorder" EXACT [] xref: EFO:0009531 xref: ICD9CM:424.1 xref: MESH:D000082862 xref: NCI:C78650 is_a: DOID:4079 ! heart valve disease is_a: DOID:520 ! aortic disease [Term] id: DOID:620 name: blood protein disease def: "Hematologic diseases caused by structural or functional defects of BLOOD PROTEINS." [MESH:D001796] synonym: "blood protein disorder" EXACT [] synonym: "blood protein disorders" EXACT [] xref: MESH:D001796 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:6201 name: pericardial mesothelioma synonym: "malignant mesothelioma of pericardium" EXACT [SNOMEDCT_2005_07_31:187885008] synonym: "malignant Pericardial Mesothelioma" EXACT [NCI2004_11_17:C7631] xref: ICD10CM:C45.2 xref: NCI:C7631 xref: NCI:C7632 xref: NCI:C8703 xref: RDO:9002748 is_a: DOID:116 ! pericardium cancer is_a: DOID:1790 ! malignant mesothelioma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:6203 name: thyroid hyalinizing trabecular adenoma synonym: "PLAT" EXACT [] xref: EFO:1000588 xref: NCI:C6846 is_a: DOID:6204 ! follicular adenoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6204 name: follicular adenoma synonym: "EFO:0000499" EXACT [] synonym: "follicular adenoma of the thyroid gland" EXACT [] synonym: "follicular adenomas" EXACT [] synonym: "follicular thyroid adenoma" EXACT [] synonym: "thyroid gland follicular adenoma" EXACT [] xref: EFO:0000499 xref: ICDO:8330/0 is_a: DOID:2891 ! thyroid adenoma [Term] id: DOID:6208 name: mediastinal osteogenic sarcoma synonym: "osteosarcoma of mediastinum" EXACT [] xref: NCI:C6615 is_a: DOID:3357 ! extraosseous osteosarcoma is_a: DOID:4050 ! mediastinum sarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:6209 name: malignant mediastinum hemangiopericytoma def: "A hemangiopericytoma and sarcoma of the mediastinum that is located_in the mediastinum. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7967247/ "DO"] synonym: "malignant hemangiopericytoma of mediastinum" EXACT [] xref: NCI:C6608 is_a: DOID:4050 ! mediastinum sarcoma is_a: DOID:9000235 ! Malignant Hemangiopericytoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6210 name: bladder diffuse clear cell adenocarcinoma xref: NCI:C39849 is_a: DOID:5306 ! bladder clear cell adenocarcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6211 name: mixed epithelial tumor of ovary def: "An ovarian benign neoplasm that is biphasic and has_material_basis_in epithelial and mesenchymal elements. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3957347/ "DO"] synonym: "mixed epithelial tumour of ovary" EXACT [] synonym: "Ovarian mixed epithelial tumor" EXACT [NCI2004_11_17:C4508] synonym: "Ovarian mixed epithelial tumour" EXACT [] xref: EFO:1000114 xref: EFO:1000425 xref: NCI:C4508 is_a: DOID:0060112 ! ovarian benign neoplasm [Term] id: DOID:6212 name: ovarian endometrial cancer def: "An ovary epithelial cancer that has_material_basis_in the endometrium and is located_in the ovary. (DO)" [http://en.wikipedia.org/wiki/Endometrial_cancer "DO"] synonym: "endometrioid neoplasm of ovary" EXACT [] synonym: "malignant ovarian endometrioid tumor" EXACT [] synonym: "ovarian endometrioid neoplasm" EXACT [] xref: NCI:C40051 xref: NCI:C6257 xref: RDO:9001895 is_a: DOID:2152 ! ovary epithelial cancer is_a: DOID:3001 ! female reproductive endometrioid cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:6214 name: ovarian papillary neoplasm def: "An ovary epithelial cancer that is characterized by the presence of finger-like projections on histology. (DO)" [https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171 "DO"] synonym: "ovarian papillary tumor" EXACT [] synonym: "ovarian papillary tumour" EXACT [] synonym: "papillary tumor of ovary" EXACT [] xref: NCI:C8430 is_a: DOID:2152 ! ovary epithelial cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:6217 name: gastric diffuse adenocarcinoma def: "A gastric adenocarcinoma that is characterized by the presence of a diffuse infiltrate, composed of individual adenocarcinoma cells or groups of adenocarcinoma cells in a fibrous or mucoid stroma. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C9159 "DO"] synonym: "adenocarcinoma of linitis plastica type" EXACT [] synonym: "diffuse type adenocarcinoma" EXACT [] synonym: "diffuse type carcinoma" EXACT [] synonym: "EFO:0000402" EXACT [] xref: EFO:0000402 xref: NCI:C4127 xref: NCI:C9159 is_a: DOID:3717 ! gastric adenocarcinoma created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:6225 name: Cronkhite-Canada syndrome alt_id: MIM:175500 def: "A stomach disease characterized by gastrointestinal hamartomatous polyposis, alopecia, onychodystrophy, skin hyperpigmentation, and diarrhea. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21881972/ "DO"] synonym: "gastric Cronkhite Canada polyposis" EXACT [] synonym: "Gastrointestinal Polyposis" EXACT [] synonym: "Intestinal Polyposis" EXACT [] synonym: "polyposis, skin pigmentation, alopecia, and fingernail changes" EXACT [] xref: MESH:D044483 xref: NCI:C7035 is_a: DOID:5295 ! intestinal disease is_a: DOID:76 ! stomach disease [Term] id: DOID:6227 name: articular cartilage disease def: "A cartilage disease that is characterized by damage to the cartilage that covers the ends of the bones. (DO)" [https://medlineplus.gov/cartilagedisorders.html "DO"] xref: ICD9CM:718.0 is_a: DOID:1222 ! cartilage disease is_a: DOID:381 ! arthropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:6228 name: peritoneal serous papillary adenocarcinoma synonym: "primary serous papillary carcinoma of peritoneum" EXACT [] xref: NCI:C7695 is_a: DOID:3112 ! papillary adenocarcinoma is_a: DOID:4901 ! peritoneal serous adenocarcinoma [Term] id: DOID:6229 name: childhood mature teratoma of the ovary def: "A mature teratoma of the ovary that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30165903 "DO"] synonym: "pediatric mature teratoma of ovary" EXACT [] xref: NCI:C6548 is_a: DOID:6231 ! mature teratoma of the ovary created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6230 name: childhood teratoma of the ovary def: "An ovarian germ cell teratoma that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/682093 "DO"] synonym: "pediatric teratoma of Ovary" EXACT [] xref: NCI:C6554 is_a: DOID:5567 ! ovarian germ cell teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6231 name: mature teratoma of the ovary def: "An ovarian biphasic or triphasic teratoma that is composed exclusively of mature tissues derived from two or three germ layers (ectoderm, mesoderm and endoderm). (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20212374 "DO"] synonym: "mature teratoma of ovary" EXACT [] xref: NCI:C8112 is_a: DOID:5566 ! mature teratoma is_a: DOID:6232 ! ovarian biphasic or triphasic teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6232 name: ovarian biphasic or triphasic teratoma def: "An ovarian germ cell teratoma that is composed of tissues that originate from two or three of the following germ layers, endoderm, ectoderm, or mesoderm. (DO)" [https://www.tandfonline.com/doi/abs/10.1586/eog.10.80 "DO"] xref: NCI:C39992 xref: RDO:9004029 is_a: DOID:5567 ! ovarian germ cell teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6239 name: non-invasive bladder papillary urothelial neoplasm synonym: "bladder papillary neoplasm of low malignant potential" EXACT [] synonym: "bladder PUNLMP" EXACT [NCI2004_11_17:C27884] synonym: "Papillary urothelial neoplasm of low malignant potential" EXACT [SNOMEDCT_2005_07_31:128625004] xref: NCI:C27884 xref: NCI:C39831 xref: RDO:9004449 is_a: DOID:5432 ! bladder papillary transitional cell neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:624 name: transient hypogammaglobulinemia of infancy xref: ICD10CM:D80.7 xref: NCI:C27071 is_a: DOID:625 ! transient hypogammaglobulinemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:6244 name: familial renal oncocytoma xref: NCI:C8960 is_a: DOID:6245 ! renal oncocytoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6245 name: renal oncocytoma alt_id: MIM:553000 def: "Benign oxyphilic adenomas which occur in the kidney. They consist mostly of abnormal epithelial cells that are larger than renal carcinoma cells. [MESH]" [] synonym: "kidney oncocytoma" EXACT [] synonym: "oncocytoma of kidney" EXACT [] synonym: "renal epithelial Oncocytic tumor" EXACT [] xref: EFO:1000315 xref: GARD:8477 xref: MESH:C537750 xref: MONDO:0003825 xref: NCI:C4526 is_a: DOID:3116 ! kidney benign neoplasm is_a: DOID:5389 ! oxyphilic adenoma [Term] id: DOID:6249 name: mediastinum seminoma synonym: "seminoma of mediastinum" EXACT [] xref: NCI:C6812 is_a: DOID:4440 ! seminoma is_a: DOID:5559 ! mediastinal cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:625 name: transient hypogammaglobulinemia xref: NCI:C27319 xref: RDO:9002595 is_a: DOID:2583 ! agammaglobulinemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:6255 name: growth hormone secreting pituitary adenoma def: "A pituitary tumor that secretes GROWTH HORMONE. In humans, excess HUMAN GROWTH HORMONE leads to ACROMEGALY." [MESH:D049912] synonym: "acromegaly due to pituitary adenoma" EXACT [] synonym: "ACROMEGALY DUE TO PITUITARY ADENOMA 1" EXACT [] synonym: "EFO:1000287" EXACT [] synonym: "familial somatotrophinoma" EXACT [] synonym: "FIPA" NARROW [] synonym: "FIS" EXACT [] synonym: "GH Secreting Pituitary Adenoma" EXACT [] synonym: "GH-Secreting Pituitary Adenomas" EXACT [] synonym: "growth hormone producing adenoma of the pituitary" EXACT [] synonym: "growth hormone secreting adenoma of pituitary" EXACT [] synonym: "IFS" EXACT [] synonym: "Isolated Familial Somatotropinoma" EXACT [] synonym: "PAGH1 PITUITARY ADENOMA PREDISPOSITION" NARROW [] synonym: "PAP" NARROW [] synonym: "PITUITARY ADENOMA, FAMILIAL ISOLATED" NARROW [] synonym: "Somatotroph Adenoma" EXACT [] synonym: "Somatotroph Adenomas" EXACT [] xref: EFO:0004125 xref: EFO:1000287 xref: MESH:D049912 xref: NCI:C7461 is_a: DOID:5395 ! functioning pituitary adenoma [Term] id: DOID:6256 name: malignant growth hormone secreting neoplasm of pituitary synonym: "malignant somatotropinoma" EXACT [] xref: NCI:C5963 is_a: DOID:5716 ! hormone producing pituitary cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6257 name: chromophil adenoma of the kidney synonym: "Papillary adenoma of the kidney" EXACT [NCI2004_11_17:C3687] xref: NCI:C3687 is_a: DOID:2697 ! renal adenoma [Term] id: DOID:6258 name: type 1 papillary adenoma of the kidney xref: NCI:C39809 is_a: DOID:6257 ! chromophil adenoma of the kidney [Term] id: DOID:6259 name: type 2 papillary adenoma of the kidney xref: NCI:C39810 is_a: DOID:6257 ! chromophil adenoma of the kidney [Term] id: DOID:626 name: complement deficiency def: "A primary immunodeficiency disease that is the result in a mutation of a gene encoding one of the thirty complement system proteins, produced predominantly in liver, which function to defend against infection and produce inflammation. (DO)" [http://en.wikipedia.org/wiki/Complement_deficiency "DO"] synonym: "complement deficiency disease" EXACT [] synonym: "hereditary complement deficiency disease" EXACT [] synonym: "hereditary complement deficiency diseases" EXACT [] synonym: "immunodeficiency due to a late component of complement deficiency" NARROW [] synonym: "inherited complement deficiency disease" EXACT [] synonym: "inherited complement deficiency diseases" EXACT [] xref: MESH:D000081208 xref: NCI:C4691 is_a: DOID:612 ! primary immunodeficiency disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6262 name: follicular dendritic cell sarcoma alt_id: DOID:7849 alt_id: RDO:0007686 def: "A dendritic cell sarcoma cancer that effects the follicular dendritic cells. (DO)" [http://en.wikipedia.org/wiki/Follicular_dendritic_cell_sarcoma "DO"] synonym: "EBV-POSITIVE INFLAMMATORY FOLLICULAR DENDRITIC CELL SARCOMA" NARROW [] synonym: "EFO:0007276" EXACT [] synonym: "follicular dendritic cell tumour" EXACT [] xref: EFO:0007276 xref: ICDO:9758/3 xref: MESH:D054740 xref: NCI:C9281 is_a: DOID:2570 ! malignant histiocytic disease is_a: DOID:7849 ! dendritic cell sarcoma [Term] id: DOID:6263 name: inflammatory breast carcinoma def: "A breast adenocarcinoma that is characterized by the clinical appearance of inflammation, with edema and redness of the breast due to pathologic plugging of the dermal lymphatics of the breast with tumor emboli. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2852616/ "DO"] synonym: "EFO:1000984" EXACT [] synonym: "inflammatory breast carcinomas" EXACT [] synonym: "Inflammatory carcinoma of breast" EXACT [SNOMEDCT_2005_07_31:254840009] synonym: "Mastitis carcinomatosa" EXACT [NCI2004_11_17:C4001] xref: EFO:1000984 xref: NCI:C4001 is_a: DOID:3458 ! breast adenocarcinoma is_a: DOID:9006684 ! Inflammatory Breast Neoplasms [Term] id: DOID:627 name: severe combined immunodeficiency alt_id: OMIA:000220 def: "A combined T cell and B cell immunodeficiency that is caused by a defect in infection-fighting immune cells resulting in individuals with non-functional immune systems. (DO)" [http://www.merriam-webster.com/medlineplus/severe%20combined%20immunodeficiency "DO", http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=severecombinedimmunodeficiency "DO", http://www.scid.net/ "DO", https://www.genome.gov/Genetic-Disorders/Severe-Combined-Immunodeficiency "DO"] synonym: "Bare Lymphocyte Syndrome" EXACT [] synonym: "bare lymphocyte syndromes" EXACT [] synonym: "combined T and B cell inborn immunodeficiency" EXACT [] synonym: "familial reticuloendothelioses" EXACT [] synonym: "Familial Reticuloendotheliosis" EXACT [] synonym: "SCID" EXACT [] synonym: "Severe Combined Immune Deficiency" EXACT [] synonym: "Severe Combined Immunodeficiencies" EXACT [] synonym: "severe combined immunodeficiency disease" EXACT [] synonym: "Severe combined immunodeficiency disease, autosomal" NARROW [] synonym: "severe combined immunodeficiency syndrome" EXACT [] synonym: "severe combined immunologic deficiency" EXACT [] xref: GARD:7628 xref: MESH:D016511 xref: MIM:PS601457 xref: NCI:C3472 is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:6270 name: gastric cardia carcinoma synonym: "carcinoma of cardia of stomach" EXACT [] synonym: "EFO:1001252" EXACT [] xref: EFO:1001252 xref: NCI:C6794 is_a: DOID:10548 ! cardia cancer is_a: DOID:5517 ! stomach carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:6271 name: gastric cardia adenocarcinoma synonym: "adenocarcinoma of Cardia of stomach" EXACT [] synonym: "adenocarcinoma of gastric cardia" EXACT [] xref: NCI:C5247 xref: RDO:9001923 is_a: DOID:3717 ! gastric adenocarcinoma is_a: DOID:6270 ! gastric cardia carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:6274 name: malignant thyroid stimulating hormone producing neoplasm of pituitary gland synonym: "malignant thyrotropinoma" EXACT [] xref: NCI:C5965 is_a: DOID:5716 ! hormone producing pituitary cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6275 name: TSH producing pituitary tumor synonym: "thyrotroph adenoma" EXACT [] synonym: "TSH producing pituitary tumour" EXACT [] synonym: "TSH secreting adenoma of the pituitary" EXACT [] synonym: "TSH secreting tumor of pituitary" EXACT [] synonym: "TSH Secreting tumour of Pituitary" EXACT [] xref: NCI:C7915 is_a: DOID:5395 ! functioning pituitary adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6276 name: malignant ACTH producing neoplasm of pituitary gland synonym: "ACTH-producing pituitary gland carcinoma" EXACT [] synonym: "EFO:1000067" EXACT [] synonym: "malignant corticotropinoma of the pituitary" EXACT [] xref: EFO:1000067 xref: NCI:C5964 is_a: DOID:5716 ! hormone producing pituitary cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6278 name: ovarian mucinous malignant adenofibroma def: "An ovarian mucinous neoplasm that is cancerous and that is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23297622 "DO"] synonym: "ovarian mucinous adenocarcinofibroma" EXACT [] xref: NCI:C40034 is_a: DOID:4422 ! malignant adenofibroma is_a: DOID:6067 ! ovarian mucinous neoplasm created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:628 name: combined T cell and B cell immunodeficiency alt_id: MIM:312863 alt_id: OMIA:000899 def: "A primary immunodeficiency disease characterized by impaired T cell-mediated immunity and impaired B cell mediated humoral immunity. (DO)" [http://en.wikipedia.org/wiki/Combined_immunodeficiencies "DO", http://rarediseases.info.nih.gov/gard/7628/severe-combined-immunodeficiency/resources/1 "DO", https://link.springer.com/chapter/10.1007/978-3-662-52909-6_2 "DO"] synonym: "CIDX" EXACT [] synonym: "Combined immunodeficiency, X-linked, moderate" NARROW [] synonym: "COMBINED T AND B CELL IMMUNODEFICIENCY" EXACT [] synonym: "congenital combined immunodeficiency" EXACT [] synonym: "IMD6" EXACT [] synonym: "immunodeficiency 6" EXACT [] synonym: "XCID" EXACT [] synonym: "X-linked combined immunodeficiencies" EXACT [] synonym: "X-linked combined immunodeficiency" EXACT [] synonym: "X-Linked Combined Immunodeficiency Diseases" EXACT [] synonym: "X-linked immunodeficiency disease" EXACT [] synonym: "X-linked immunodeficiency diseases" EXACT [] synonym: "X-linked immunodeficiency syndrome" EXACT [] synonym: "X-linked immunodeficiency syndromes" EXACT [] xref: ICD10CM:D81 xref: ICD9CM:279.2 xref: MESH:D053632 xref: NCI:C27871 xref: ORDO:101972 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0111962 ! combined immunodeficiency [Term] id: DOID:6284 name: epicardium lipoma def: "A heart lipoma that is located_in the epicardium and derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23438624 "DO"] synonym: "lipoma of epicardium" EXACT [] xref: NCI:C6742 is_a: DOID:6285 ! heart lipoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:6285 name: heart lipoma synonym: "lipoma of heart" EXACT [] xref: MONDO:0003841 xref: NCI:C6741 is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:114 ! heart disease is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:6286 name: childhood cerebellar astrocytic neoplasm synonym: "pediatric astrocytoma of cerebellum" EXACT [] xref: NCI:C6286 is_a: DOID:3079 ! childhood astrocytic tumor is_a: DOID:4848 ! cerebellar astrocytoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6291 name: cerebral hemisphere lipoma synonym: "Lipoma of the Cerebral Hemisphere" EXACT [NCI2004_11_17:C6220] xref: NCI:C6220 xref: RDO:9004700 is_a: DOID:368 ! cerebrum cancer is_a: DOID:6293 ! central nervous system lipoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6293 name: central nervous system lipoma def: "A central nervous system benign neoplasm that derives_from fat cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12597248 "DO"] synonym: "lipoma of the CNS" EXACT [] xref: NCI:C5451 xref: RDO:9004396 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6294 name: corpus callosum lipoma synonym: "LIPOMA OF CORPUS CALLOSUM" EXACT [] synonym: "lipoma of the corpus callosum" EXACT [] xref: NCI:C5438 xref: RDO:9004701 is_a: DOID:6291 ! cerebral hemisphere lipoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6297 name: viral esophagitis xref: NCI:C27108 is_a: DOID:11963 ! esophagitis is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:630 name: genetic disease def: "A disease that has_material_basis_in genetic variations in the human genome. (DO)" [http://ghr.nlm.nih.gov/ "DO"] synonym: "genetic diseases" EXACT [] synonym: "Genetic Disorder" EXACT [] synonym: "Genetic Disorders" EXACT [] synonym: "Hereditary Disease" EXACT [] synonym: "Hereditary Diseases" EXACT [] synonym: "HEREDITARY DISORDER" EXACT [] synonym: "hereditary genetic disorder" EXACT [] synonym: "Inborn Genetic Disease" EXACT [] synonym: "inborn genetic diseases" EXACT [] synonym: "single-gene defect" NARROW [] synonym: "single gene defects" NARROW [] xref: EFO:0000508 xref: EFO:0004904 xref: MESH:D030342 xref: NCI:C3101 is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Term] id: DOID:6307 name: ectopic thymus xref: MONDO:0003848 xref: NCI:C27804 is_a: DOID:533 ! thymus gland disease [Term] id: DOID:631 name: fibromyalgia def: "A syndrome that is is characterized by chronic widespread musculoskeletal pain, fatigue, sleep disturbances, cognitive dysfunction and depression. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30486733/ "DO", https://pubmed.ncbi.nlm.nih.gov/32120395/ "DO", https://pubmed.ncbi.nlm.nih.gov/33024295/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7660651/ "DO"] synonym: "Diffuse Myofascial Pain Syndrome" EXACT [] synonym: "Fibromyalgia Fibromyositis Syndrome" EXACT [] synonym: "fibromyalgia-fibromyositis syndromes" EXACT [] synonym: "Fibromyalgias" EXACT [] synonym: "Fibrositides" EXACT [] synonym: "Fibrositis" EXACT [] synonym: "Muscular Rheumatism" EXACT [] synonym: "Primary Fibromyalgia" EXACT [] synonym: "Primary Fibromyalgias" EXACT [] synonym: "Secondary Fibromyalgia" EXACT [] synonym: "secondary fibromyalgias" EXACT [] xref: EFO:0005687 xref: ICD10CM:M79.7 xref: MESH:D005356 xref: NCI:C50566 xref: NCI:C87497 is_a: DOID:0080000 ! muscular disease is_a: DOID:1575 ! rheumatic disease is_a: DOID:633 ! myositis [Term] id: DOID:6312 name: clivus chordoma def: "A chordoma of skull base that is located in the clivus. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1656331/ "DO"] synonym: "chordoma of clivus" EXACT [] xref: NCI:C5412 is_a: DOID:4151 ! skull base chordoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:6313 name: clivus chondroid chordoma def: "A chondroid chordoma and chordoma of the clivus that is located_in the clivus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6263615/ "DO"] synonym: "chondroid chordoma of the clivus" EXACT [] xref: NCI:C5426 is_a: DOID:4152 ! chondroid chordoma is_a: DOID:6312 ! clivus chordoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:6314 name: ovarian fetiform teratoma def: "A mature teratoma of the ovary that resembles a malformed human fetus with the caudal portion being more developed. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28446797 "DO"] xref: NCI:C39996 is_a: DOID:6231 ! mature teratoma of the ovary created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6315 name: ovarian solid teratoma def: "A mature teratoma of the ovary that is predominantly solid with interspersed cysts. (DO)" [https://pubs.rsna.org/doi/full/10.1148/radiographics.21.2.g01mr09475 "DO", https://www.ncbi.nlm.nih.gov/pubmed/27636886 "DO"] xref: NCI:C7285 is_a: DOID:6231 ! mature teratoma of the ovary created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6316 name: Bartholin's gland adenocarcinoma def: "A Bartholin's gland carcinoma that derives_from epithelial cells originating in glandular tissue. (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/7272963 "DO"] synonym: "adenocarcinoma of Bartholin's gland" EXACT [] synonym: "adenocarcinoma of the Bartholin's gland" EXACT [] synonym: "Bartholin gland adenocarcinoma" EXACT [] xref: NCI:C7719 is_a: DOID:2098 ! vulva adenocarcinoma is_a: DOID:3999 ! Bartholin's gland carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6322 name: tibial adamantinoma def: "An adamantinoma of long bone that is located_in the tibia. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30210255 "DO"] synonym: "EFO:1000596" EXACT [] synonym: "tibial adamantinoma morphology" EXACT [] xref: EFO:1000596 xref: NCI:C8461 is_a: DOID:2775 ! long bone adamantinoma [Term] id: DOID:633 name: myositis def: "A myopathy characterized by muscle inflammation. (DO)" [http://www.nlm.nih.gov/medlineplus/myositis.html "DO", https://en.wikipedia.org/wiki/Myositis "DO"] synonym: "focal myositides" EXACT [] synonym: "Focal Myositis" EXACT [] synonym: "Idiopathic Inflammatory Myopathies" EXACT [] synonym: "Idiopathic Inflammatory Myopathy" EXACT [] synonym: "Idiopathic Inflammatory Myositis" EXACT [] synonym: "Infectious Myositides" EXACT [] synonym: "Infectious Myositis" EXACT [] synonym: "inflammatory disorder of muscle" EXACT [] synonym: "Inflammatory Muscle Disease" EXACT [] synonym: "Inflammatory Muscle Diseases" EXACT [] synonym: "Inflammatory Myopathies" EXACT [] synonym: "Inflammatory Myopathy" EXACT [] synonym: "Myositides" EXACT [] synonym: "Proliferative Myositides" EXACT [] synonym: "proliferative myositis" EXACT [] xref: EFO:0000783 xref: ICD10CM:M60 xref: ICD10CM:M60.9 xref: MESH:D009220 xref: NCI:C27578 is_a: DOID:423 ! myopathy is_a: DOID:9005372 ! Inflammation [Term] id: DOID:6331 name: immature teratoma of ovary def: "A malignant ovarian germ cell neoplasm that is a teratoma containing variable amounts of immature (typically primitive/embryonal neuroectodermal) tissues, including, in its most primitive forms, embryoid bodies. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26142911 "DO"] synonym: "malignant teratoma of ovary" EXACT [] synonym: "ovarian immature teratoma" EXACT [] synonym: "ovarian malignant teratoma" EXACT [] xref: NCI:C39995 xref: NCI:C8111 xref: ORDO:398987 is_a: DOID:2155 ! malignant ovarian germ cell neoplasm is_a: DOID:5563 ! malignant teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6332 name: adult malignant hemangiopericytoma xref: NCI:C7946 is_a: DOID:9000235 ! Malignant Hemangiopericytoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6333 name: adult intracranial malignant hemangiopericytoma xref: NCI:C9183 is_a: DOID:201 ! connective tissue cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:6334 name: anterior optic tract meningioma xref: NCI:C7538 is_a: DOID:3419 ! optic nerve neoplasm is_a: DOID:3565 ! meningioma [Term] id: DOID:6335 name: bilateral meningioma of optic nerve synonym: "bilateral meningioma of the optic nerve" EXACT [] xref: MESH:C000608854 xref: NCI:C5304 is_a: DOID:3419 ! optic nerve neoplasm is_a: DOID:3565 ! meningioma [Term] id: DOID:6337 name: cerebellopontine angle meningioma synonym: "cerebellar pontine angle meningioma" EXACT [] synonym: "meningioma of C-P angle" EXACT [] synonym: "meningioma of the cerebellar pontine angle" EXACT [] xref: NCI:C5300 is_a: DOID:0060106 ! brain meningioma is_a: DOID:3200 ! cerebellopontine angle tumor created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6339 name: vulvar eccrine adenocarcinoma def: "A vulva adenocarcinoma that has_material_basis_in eccrine glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27832810 "DO"] xref: NCI:C40305 is_a: DOID:2098 ! vulva adenocarcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6344 name: melanotic psammomatous malignant peripheral nerve sheath tumor synonym: "melanocytic psammomatous MPNST" EXACT [] xref: NCI:C6910 is_a: DOID:6345 ! malignant melanocytic neoplasm of the peripheral nerve sheath created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6345 name: malignant melanocytic neoplasm of the peripheral nerve sheath synonym: "melanocytic MPNST" EXACT [] synonym: "melanotic malignant nerve sheath tumor" EXACT [] synonym: "melanotic malignant peripheral nerve sheath tumor" EXACT [] synonym: "melanotic malignant peripheral nerve sheath tumour" EXACT [] xref: NCI:C4748 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:635 name: acquired immunodeficiency syndrome def: "A Human immunodeficiency virus infectious disease that results_in reduction in the numbers of CD4-bearing helper T cells below 200 per microliter of blood or 14% of all lymphocytes thereby rendering the subject highly vulnerable to life-threatening infections and cancers, has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2, which are transmitted_by sexual contact, transmitted_by transfer of blood, semen, vaginal fluid, pre-ejaculate, or breast milk, transmitted_by congenital method, and transmitted_by contaminated needles. Opportunistic infections are common in people with AIDS. (DO)" [http://en.wikipedia.org/wiki/AIDS "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=aids "DO"] synonym: "acquired immune deficiency" EXACT [] synonym: "Acquired Immune Deficiency Syndrome" EXACT [] synonym: "Acquired Immuno Deficiency Syndrome" EXACT [] synonym: "acquired immunodeficiency syndrome, delayed progression to" NARROW [] synonym: "acquired immunodeficiency syndrome, rapid progression to" NARROW [] synonym: "Acquired Immunodeficiency Syndromes" EXACT [] synonym: "acquired immuno-deficiency syndromes" EXACT [] synonym: "acquired immunodeficiency syndrome, slow progression to" NARROW [] synonym: "acquired immunologic deficiency syndrome" EXACT [] synonym: "AIDS" EXACT [] synonym: "AIDS-related disease" NARROW [] xref: EFO:0000765 xref: EFO:0009528 xref: MESH:D000163 xref: NCI:C2851 is_a: DOID:526 ! human immunodeficiency virus infectious disease is_a: DOID:9004448 ! Slow Virus Diseases [Term] id: DOID:6354 name: chronic lymphocytic leukemia/small lymphocytic lymphoma def: "A chronic lymphocytic leukemia that is characterized by the presence of immature lymphocytes in the blood and bone marrow and/or in the lymph nodes. (DO)" [http://www.cancer.gov/dictionary?CdrID=641291 "DO", https://lymphoma.org/aboutlymphoma/cll/ "DO"] synonym: "B-cell lymphocytic leukemia/small lymphocytic lymphoma" EXACT [] synonym: "CLL/SLL" EXACT [] xref: ICDO:9823/3 xref: NCI:C27911 is_a: DOID:1040 ! chronic lymphocytic leukemia created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:636 name: central pontine myelinolysis def: "A demyelination disease that is characterized by severe damage to the myelin sheath of the pons' nerve cells and has_symptom acute paralysis, has_symptom dysphagia, and has_symptom dysarthria. (DO)" [https://en.wikipedia.org/wiki/Central_pontine_myelinolysis "DO", https://pubmed.ncbi.nlm.nih.gov/25220878/ "DO"] synonym: "Central Pontine Myelinoclasis" EXACT [] synonym: "extrapontine myelinoclases" EXACT [] synonym: "Extrapontine Myelinoclasis" EXACT [] synonym: "Extrapontine Myelinolyses" EXACT [] synonym: "extrapontine myelinolysis" EXACT [] synonym: "osmotic demyelination syndrome" EXACT [] xref: EFO:1000857 xref: GARD:8749 xref: ICD10CM:G37.2 xref: MESH:D017590 xref: NCI:C84623 is_a: DOID:3213 ! demyelinating disease is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:6364 name: migraine alt_id: MIM:157300 alt_id: MIM:300125 alt_id: MIM:607498 alt_id: MIM:607508 alt_id: MIM:609570 alt_id: MIM:610208 alt_id: MIM:610209 alt_id: MIM:611706 alt_id: MIM:613656 def: "A brain disease that is characterized by moderate to severe headaches, nausea, extreme sensitivity to light and sound and intense unilaterial throbbing or pulsing. (DO)" [http://en.wikipedia.org/wiki/Migraine "DO", http://www.mayoclinic.com/health/migraine-headache/DS00120 "DO"] synonym: "abdominal migraine" EXACT [] synonym: "abdominal migraines" EXACT [] synonym: "acute confusional migraine" EXACT [] synonym: "acute confusional migraines" EXACT [] synonym: "cervical migraine syndrome" EXACT [] synonym: "cervical migraine syndromes" EXACT [] synonym: "hemicrania migraine" EXACT [] synonym: "hemicrania migraines" EXACT [] synonym: "MA" EXACT [] synonym: "MFTS" EXACT [] synonym: "MGAU" EXACT [] synonym: "MGR1" RELATED [] synonym: "MGR10" RELATED [] synonym: "MGR11" RELATED [] synonym: "MGR12" RELATED [] synonym: "MGR2" RELATED [] synonym: "MGR3" RELATED [] synonym: "MGR5" RELATED [] synonym: "MGR8" RELATED [] synonym: "migraine disorder" EXACT [] synonym: "migraine disorders" EXACT [] synonym: "migraine headache" EXACT [] synonym: "migraine headaches" EXACT [] synonym: "migraine, resistance to" RELATED [] synonym: "migraines" EXACT [] synonym: "migraine variant" EXACT [] synonym: "migraine variants" EXACT [] synonym: "migraine with or without aura" EXACT [] synonym: "migraine with or without aura, susceptibility to" RELATED [] synonym: "migraine with or without aura, susceptibility to, 1" RELATED [] synonym: "migraine with or without aura, susceptibility to, 10" RELATED [] synonym: "migraine with or without aura, susceptibility to, 11" RELATED [] synonym: "migraine with or without aura, susceptibility to, 12" RELATED [] synonym: "migraine with or without aura, susceptibility to, 13" RELATED [] synonym: "migraine with or without aura, susceptibility to, 2" RELATED [] synonym: "migraine with or without aura, susceptibility to, 3" RELATED [] synonym: "migraine with or without aura, susceptibility to, 5" RELATED [] synonym: "migraine with or without aura, susceptibility to, 8" RELATED [] synonym: "sick headache" EXACT [] synonym: "sick headaches" EXACT [] synonym: "status migrainosus" EXACT [] xref: EFO:0003821 xref: ICD10CM:G43 xref: ICD9CM:346 xref: MESH:D008881 xref: MIM:PS157300 xref: MONDO:0005277 xref: NCI:C89715 is_a: DOID:9001144 ! Primary Headache Disorders [Term] id: DOID:6367 name: acral lentiginous melanoma def: "A skin melanoma that is characterized by slow growth of a small pigmented spot on the skin with a clearly defined edge, surrounded by normal-appearing skin and occurs on occurs on non hair-bairing surfaces including hands and feet, subungual sites, and fingers or toes. (DO)" [http://en.wikipedia.org/wiki/Acral_lentiginous_melanoma "DO", http://en.wikipedia.org/wiki/Lentigo "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1352575/ "DO"] synonym: "malignant acral lentiginous melanoma" EXACT [] xref: GARD:9570 xref: NCI:C4022 is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:6370 name: hepatic osteogenic sarcoma synonym: "osteosarcoma of liver" EXACT [] xref: NCI:C5833 is_a: DOID:268 ! liver angiosarcoma is_a: DOID:270 ! liver sarcoma is_a: DOID:3357 ! extraosseous osteosarcoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:6376 name: hypersplenism def: "Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy." [MESH:D006971] synonym: "hypersplenia" EXACT [] synonym: "splenic anemia" EXACT [] synonym: "splenic anemias" EXACT [] xref: EFO:1000975 xref: ICD10CM:D73.1 xref: ICD9CM:289.4 xref: MESH:D006971 xref: MONDO:0006795 xref: NCI:C34714 is_a: DOID:2529 ! splenic disease [Term] id: DOID:6379 name: diffuse meningeal melanocytosis def: "A central nervous system melanocytic neoplasm that is characterized as diffuse or multifocal proliferation of uniform nevoid polygonal cells in the leptomeninges. (DO)" [https://radiopaedia.org/articles/meningeal-melanocytosis?lang=us "DO"] synonym: "diffuse melanocytosis" EXACT [] synonym: "diffuse melanosis" EXACT [] synonym: "Meningeal melanocytosis" EXACT [] xref: EFO:1000216 xref: ICDO:8728/0 xref: NCI:C6890 xref: ORDO:252031 is_a: DOID:4955 ! central nervous system melanocytic neoplasm [Term] id: DOID:6381 name: anterior foramen magnum meningioma synonym: "meningioma of the anterior foramen magnum" EXACT [] xref: NCI:C5281 is_a: DOID:4708 ! foramen magnum meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6383 name: childhood brain stem glioma synonym: "pediatric glioma of the Brainstem" EXACT [NCI2004_11_17:C9042] xref: GARD:9306 xref: NCI:C9042 is_a: DOID:4206 ! childhood brain stem neoplasm [Term] id: DOID:6386 name: childhood brainstem astrocytoma xref: ICD-O:M9400/3 xref: NCI:C6216 is_a: DOID:6383 ! childhood brain stem glioma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:639 name: acute disseminated encephalomyelitis def: "An encephalomyelitis characterized by inflammation located in brain and located in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection. (DO)" [http://en.wikipedia.org/wiki/Acute_disseminated_encephalomyelitis "DO", http://www.ninds.nih.gov/disorders/acute_encephalomyelitis/acute_encephalomyelitis.htm "DO"] synonym: "acute disseminated encephalitis" EXACT [] synonym: "acute disseminated encephalomyelitides" EXACT [] synonym: "ADEM" EXACT [] synonym: "postexanthem encephalomyelitis" EXACT [] synonym: "postinfectious encephalomyelitis" EXACT [] xref: EFO:0007130 xref: GARD:8639 xref: MESH:D004673 xref: NCI:C34578 is_a: DOID:640 ! encephalomyelitis is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS is_a: DOID:934 ! viral infectious disease [Term] id: DOID:640 name: encephalomyelitis def: "A general term indicating inflammation of the BRAIN and SPINAL CORD, often used to indicate an infectious process, but also applicable to a variety of autoimmune and toxic-metabolic conditions. There is significant overlap regarding the usage of this term and ENCEPHALITIS in the literature." [MESH:D004679] synonym: "encephalitis &/or myelitis" EXACT [] synonym: "inflammatory encephalomyelitis" EXACT [] synonym: "myeloencephalitides" EXACT [] synonym: "myeloencephalitis" EXACT [] xref: EFO:0001423 xref: MESH:D004679 xref: NCI:C34580 is_a: DOID:331 ! central nervous system disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:6404 name: metanephric adenoma synonym: "EFO:1000373" EXACT [] xref: EFO:1000373 xref: ICDO:8325/0 xref: NCI:C27253 is_a: DOID:2697 ! renal adenoma [Term] id: DOID:6405 name: ovarian papillary cystadenoma def: "An ovarian cystadenoma that is characterized by the presence of finger-like projections. (DO)" [https://www.sciencedirect.com/science/article/pii/S0002961041905159 "DO"] xref: NCI:C7278 is_a: DOID:3269 ! ovarian cystadenoma is_a: DOID:6214 ! ovarian papillary neoplasm created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:6406 name: double outlet right ventricle def: "Incomplete transposition of the great vessels in which both the AORTA and the PULMONARY ARTERY arise from the RIGHT VENTRICLE. The only outlet of the LEFT VENTRICLE is a large ventricular septal defect (VENTRICULAR SEPTAL DEFECTS or VSD). The various subtypes are classified by the location of the septal defect, such as subaortic, subpulmonary, or noncommitted." [MESH:D004310] synonym: "dextrotransposition of aorta" EXACT [] synonym: "Double Outlet Right Ventricle, Noncommitted VSD" EXACT [] synonym: "Double Outlet Right Ventricle, Subaortic VSD" EXACT [] synonym: "Double Outlet Right Ventricle, Subpulmonary VSD" EXACT [] synonym: "double outlet right ventricle with subpulmonary ventricular septal defect" EXACT [] synonym: "Taussig Bing Anomaly" EXACT [] synonym: "Taussig-Bing syndrome or defect" EXACT [] xref: GARD:1908 xref: ICD10CM:Q20.1 xref: ICD9CM:745.11 xref: MESH:D004310 xref: NCI:C98916 xref: ORDO:3426 is_a: DOID:0060770 ! dextro-looped transposition of the great arteries is_a: DOID:1657 ! ventricular septal defect [Term] id: DOID:6407 name: ovarian surface papilloma def: "An ovarian papillary neoplasm that is an exophytic growth with bland, serous-type epitheliumon the surface of the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/439088 "DO"] xref: NCI:C7279 is_a: DOID:6214 ! ovarian papillary neoplasm created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:6408 name: ovary papillary carcinoma def: "An ovarian carcinoma that has_material_basis_in abnormally proliferating cells and derives_from epithelial cells. (DO)" [https://acsjournals.onlinelibrary.wiley.com/doi/pdf/10.3322/canjclin.16.4.171 "DO", https://www.ncbi.nlm.nih.gov/pubmed/7185762 "DO"] synonym: "serous surface papillary carcinoma of ovary" EXACT [] xref: NCI:C6256 is_a: DOID:3113 ! papillary carcinoma is_a: DOID:4001 ! ovarian carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6419 name: tetralogy of Fallot alt_id: MIM:187500 def: "A combination of congenital heart defects consisting of four key features including VENTRICULAR SEPTAL DEFECTS; PULMONARY STENOSIS; RIGHT VENTRICULAR HYPERTROPHY; and a dextro-positioned AORTA. In this condition, blood from both ventricles (oxygen-rich and oxygen-poor) is pumped into the body often causing CYANOSIS." [MESH:D013771] synonym: "Fallot's tetralogy" EXACT [] synonym: "Fallots Tetralogy" EXACT [] synonym: "Fallot tetralogy" EXACT [] synonym: "TOF" EXACT [] synonym: "Ventricular septal defect with pulmonary stenosis or atresia, dextraposition of aorta, and hypertrophy of right ventricle" EXACT [] xref: EFO:0004894 xref: GARD:2245 xref: ICD10CM:Q21.3 xref: ICD9CM:745.2 xref: MESH:D013771 xref: NCI:C84505 xref: ORDO:3303 is_a: DOID:1657 ! ventricular septal defect is_a: DOID:6420 ! pulmonary valve stenosis is_a: DOID:9006102 ! Right Ventricular Hypertrophy is_a: DOID:9006735 ! Overriding Aorta [Term] id: DOID:6420 name: pulmonary valve stenosis alt_id: MIM:265500 def: "The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete." [MESH:D011666] synonym: "Pulmonary Stenose" EXACT [] synonym: "pulmonary stenoses" EXACT [] synonym: "Pulmonary Stenosis" EXACT [] synonym: "Pulmonary Valve Stenoses" EXACT [] synonym: "Pulmonic Stenoses" EXACT [] synonym: "pulmonic stenosis" EXACT [] synonym: "valvular pulmonic stenoses" EXACT [] synonym: "valvular pulmonic stenosis" EXACT [] xref: EFO:1001138 xref: GARD:4596 xref: MESH:D011666 xref: NCI:C50715 is_a: DOID:5749 ! pulmonary valve disease is_a: DOID:9004319 ! Ventricular Outflow Obstruction [Term] id: DOID:6423 name: childhood central nervous system mature teratoma xref: NCI:C27404 is_a: DOID:6017 ! central nervous system mature teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6425 name: eyelid carcinoma synonym: "carcinoma of the eyelid" EXACT [] xref: NCI:C6078 is_a: DOID:0060116 ! sensory system cancer is_a: DOID:3451 ! skin carcinoma is_a: DOID:530 ! eyelid disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6428 name: cervical adenoid basal carcinoma def: "A cervix carcinoma that has_material_basis_in epithelium and is characterized by the presence of small,\nwell differentiated, rounded nests of basaloid cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10872669 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25207054 "DO"] synonym: "EFO:1000160" EXACT [] xref: EFO:1000160 xref: NCI:C40213 is_a: DOID:2893 ! cervix carcinoma [Term] id: DOID:643 name: progressive multifocal leukoencephalopathy def: "A viral infectious disease that involves reactivation of JC polyomavirus in immune-compromised individuals which causes the loss of white matter (which is made up of myelin, a substance the surrounds and protects nerve fibers) in multiple areas of the brain. The symptoms include hemiparesis, aphasia, dysarthria, hemianopia, cognitive impairment and coma. (DO)" [http://www.merck.com/mmpe/sec16/ch217/ch217f.html "DO", http://www.merriam-webster.com/medical/progressive%20multifocal%20leukoencephalopathy "DO", http://www.ninds.nih.gov/disorders/pml/pml.htm "DO"] synonym: "JC polyomavirus encephalitis" EXACT [] synonym: "JC polyomavirus encephalopathies" EXACT [] synonym: "JC polyomavirus encephalopathy" EXACT [] synonym: "PML" EXACT [] synonym: "progressive multifocal leukoencephalopathies" EXACT [] xref: EFO:0007455 xref: GARD:7468 xref: ICD10CM:A81.2 xref: ICD9CM:046.3 xref: MESH:D007968 xref: NCI:C26815 is_a: DOID:3213 ! demyelinating disease is_a: DOID:646 ! viral encephalitis is_a: DOID:9000386 ! Polyomavirus Infections is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9004448 ! Slow Virus Diseases [Term] id: DOID:6432 name: pulmonary hypertension def: "A hypertension characterized by an increase of blood pressure in the pulmonary artery, pulmonary vein or pulmonary capillaries. (DO)" [https://en.wikipedia.org/wiki/Pulmonary_hypertension "DO", https://www.ncbi.nlm.nih.gov/pubmed/19555858 "DO"] synonym: "PHT" EXACT [] synonym: "primary pulmonary hypertension, fenfluramine-associated" NARROW [] synonym: "PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED" NARROW [] xref: EFO:0001361 xref: ICD10CM:I27.20 xref: MESH:D006976 xref: NCI:C3120 is_a: DOID:10763 ! hypertension is_a: DOID:850 ! lung disease [Term] id: DOID:6438 name: malignant choroid melanoma synonym: "choroidal melanoma" EXACT [] synonym: "malignant melanoma of choroid" EXACT [SNOMEDCT_2005_07_31:255021005] synonym: "melanoma of the Choroid" EXACT [NCI2004_11_17:C4561] xref: EFO:0009093 xref: NCI:C4561 is_a: DOID:12759 ! choroid cancer [Term] id: DOID:6445 name: ovarian endometrioid malignant adenofibroma xref: NCI:C40060 xref: RDO:9001891 is_a: DOID:6170 ! ovarian carcinosarcoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:6446 name: ceruminous adenocarcinoma xref: ICDO:8420/3 xref: NCI:C4176 is_a: DOID:4933 ! apocrine carcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6448 name: vulvar apocrine adenocarcinoma def: "A vulva adenocarcinoma that has_material_basis_in apocrine glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24179652 "DO"] xref: NCI:C40308 is_a: DOID:2098 ! vulva adenocarcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6451 name: central nervous system fibrosarcoma synonym: "fibrosarcoma of the CNS" EXACT [] xref: NCI:C5465 is_a: DOID:2133 ! central nervous system sarcoma is_a: DOID:3355 ! fibrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6457 name: Cowden syndrome def: "A PTEN hamartoma tumor syndrome that is characterized by multiple noncancerous, tumor-like growths (hamartomas) and an increased risk of certain forms of cancer, especially breast, thyroid and endometrium. (DO)" [http://en.wikipedia.org/wiki/Cowden_syndrome "DO", http://ghr.nlm.nih.gov/condition/cowden-syndrome "DO", http://rarediseases.info.nih.gov/gard/6202/cowden-syndrome/resources/1 "DO"] synonym: "CD" EXACT [] synonym: "cerebellum dysplastic gangliocytoma" EXACT [] synonym: "cerebellum dysplastic gangliocytomas" EXACT [] synonym: "Cowden's disease" EXACT [] synonym: "Cowden's syndrome" EXACT [] synonym: "Cowden disease" EXACT [] synonym: "Cowden disease 3" RELATED [] synonym: "Cowdens disease" EXACT [] synonym: "Cowdens syndrome" EXACT [] synonym: "dysplastic gangliocytoma of cerebellum" EXACT [] synonym: "dysplastic gangliocytoma of the cerebellum" EXACT [] synonym: "LDD" EXACT [] synonym: "Lhermitte-Duclos disease" EXACT [] xref: GARD:6202 xref: ICDO:9493/0 xref: MIM:PS158350 xref: NCI:C3076 xref: NCI:C8419 xref: ORDO:201 is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:6458 name: cerebellar liponeurocytoma def: "A cerebellum cancer that is characterized by consistent neuronal, variable astrocytic and focal lipomatous differentiation. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33964714/ "DO"] synonym: "EFO:1000159" EXACT [] synonym: "lipomatous medulloblastoma" EXACT [] xref: EFO:1000159 xref: GARD:10642 xref: NCI:C6905 is_a: DOID:4205 ! cerebellum cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:6459 name: rectal lipoma def: "A rectal benign neoplasm that has_material_basis_in fat tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22084744/ "DO"] synonym: "lipoma of rectum" EXACT [] synonym: "lipoma of the rectum" EXACT [] xref: NCI:C5551 is_a: DOID:1984 ! rectal benign neoplasm is_a: DOID:6460 ! large intestine lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:646 name: viral encephalitis def: "An encephalitis that involves inflammation of the brain caused by viral infection. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/14978145 "DO"] synonym: "epidemic encephalitides" EXACT [] synonym: "epidemic encephalitis" EXACT [] synonym: "viral infectious encephalomyelitis" EXACT [] xref: EFO:0007538 xref: MESH:D018792 xref: NCI:C34576 is_a: DOID:9003736 ! Central Nervous System Viral Diseases is_a: DOID:9003824 ! Infectious Encephalitis [Term] id: DOID:6460 name: large intestine lipoma def: "An intestinal benign neoplasm that derives_from fat cells and that is located_in the large intestine. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24950559 "DO"] synonym: "lipoma of large intestine" EXACT [] xref: NCI:C5678 is_a: DOID:3315 ! lipoma is_a: DOID:4610 ! intestinal benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6468 name: mucinous cystadenofibroma def: "A cystadenofibroma that is characterized by the presence of mucin. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23297622 "DO"] xref: NCI:C8979 is_a: DOID:5482 ! cystadenofibroma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6469 name: ovarian mucinous adenofibroma def: "An ovarian benign neoplasm that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1996729 "DO"] xref: NCI:C40040 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:9002755 ! Benign Ovarian Mucinous Tumor [Term] id: DOID:6474 name: childhood teratocarcinoma of the testis synonym: "pediatric testicular teratocarcinoma" EXACT [] xref: ICD-O:M9081/3 xref: NCI:C6539 is_a: DOID:6161 ! childhood testicular mixed germ cell tumor [Term] id: DOID:6476 name: clear cell variant infiltrating bladder urothelial carcinoma xref: NCI:C39827 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:6477 name: invasive bladder transitional cell carcinoma synonym: "invasive bladder urothelial carcinoma" EXACT [] xref: NCI:C27885 is_a: DOID:4006 ! bladder urothelial carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:648 name: kuru alt_id: MIM:245300 def: "A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)" [MESH:D007729] synonym: "kuru encephalopathy" EXACT [] synonym: "kuru, protection against" RELATED [] synonym: "kuru, susceptibility to" RELATED [] xref: EFO:1001008 xref: GARD:7617 xref: ICD10CM:A81.81 xref: ICD9CM:046.0 xref: MESH:D007729 is_a: DOID:649 ! prion disease [Term] id: DOID:6481 name: bladder signet ring cell adenocarcinoma synonym: "signet ring cell adenocarcinoma of bladder" RELATED [] synonym: "urinary bladder signet ring adenocarcinoma" EXACT [] xref: NCI:C6163 is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:3711 ! bladder adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6482 name: lung acinar adenocarcinoma synonym: "acinar adenocarcinoma of the lung" EXACT [] xref: NCI:C5649 is_a: DOID:3910 ! lung adenocarcinoma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:6483 name: rete testis adenoma def: "A male reproductive organ benign neoplasm that derives from epithelial tissue in which tumor cells form glands or glandlike structures and that is located_in the rete testis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10320920 "DO"] xref: NCI:C39956 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:5639 ! rete testis neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:6484 name: mediastinal melanocytic neurilemmoma synonym: "mediastinal melanotic schwannoma" EXACT [] synonym: "melanocytic schwannoma of mediastinum" EXACT [] xref: NCI:C6635 is_a: DOID:3205 ! melanotic neurilemmoma is_a: DOID:6175 ! mediastinal neurilemmoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6489 name: periosteal osteogenic sarcoma synonym: "periosteal osteosarcoma" EXACT [] xref: NCI:C8970 is_a: DOID:3374 ! peripheral osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:649 name: prion disease def: "A brain disease that is characterized by brain damage resulting from the abnormal folding, clumping and accumulation of cellular proteins in the brain induced by prion proteins. (DO)" [http://en.wikipedia.org/wiki/Prion "DO", http://www.cdc.gov/ncidod/dvrd/prions/ "DO"] synonym: "genetic prion disease" NARROW [] synonym: "Genetic Prion Diseases" NARROW [] synonym: "Inherited Human Transmissible Spongiform Encephalopathies" NARROW [] synonym: "INHERITED PRION DISEASE" NARROW [] synonym: "Prion-Associated Disorders" EXACT [] synonym: "prion disease pathway" EXACT [] synonym: "prion diseases" EXACT [] synonym: "Prion Disease, Susceptibility To" RELATED [] synonym: "Prion Induced Disorder" EXACT [] synonym: "Prion-Induced Disorders" EXACT [] synonym: "Prion Protein Disease" EXACT [] synonym: "Prion Protein Diseases" EXACT [] synonym: "spongiform encephalopathy" EXACT [] synonym: "Transmissible Dementia" NARROW [] synonym: "Transmissible Dementias" NARROW [] synonym: "Transmissible Spongiform Encephalopathies" NARROW [] synonym: "transmissible spongiform encephalopathy" NARROW [] xref: EFO:0004720 xref: ICD10CM:A81.9 xref: MESH:D017096 xref: NCI:C128346 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:936 ! brain disease [Term] id: DOID:6491 name: breast capillary hemangioma def: "A breast hemangioma that is characterized by capillary-sized vessels. (DO)" [http://www.pathologyoutlines.com/topic/breasthemangioma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/26687640 "DO"] synonym: "capillary angioma of breast" EXACT [] xref: NCI:C5210 is_a: DOID:1637 ! breast angiomatosis is_a: DOID:2725 ! capillary hemangioma is_a: DOID:476 ! breast hemangioma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6492 name: breast epithelioid hemangioma def: "A breast hemangioma that is characterized by islands and cords on hyalinized and myxoid ground substance as well as intracytoplasmic vacuoles that contain typical erythrocytes and are characterized by fusiform or round nucleated cells. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351506/ "DO"] synonym: "breast histiocytoid hemangioma" EXACT [] xref: NCI:C5211 is_a: DOID:474 ! histiocytoid hemangioma is_a: DOID:476 ! breast hemangioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6494 name: childhood myxoid chondrosarcoma synonym: "pediatric myxoid chondrosarcoma" EXACT [] xref: ICD-O:M9231/3 xref: MONDO:0003898 xref: NCI:C27377 is_a: DOID:5861 ! myxoid chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6498 name: seborrheic keratosis alt_id: MIM:182000 def: "Benign eccrine poromas that present as multiple oval, brown-to-black plaques, located mostly on the chest and back. The age of onset is usually in the fourth or fifth decade." [MESH:D017492] synonym: "Keratosis Seborrheica" EXACT [] synonym: "Seborrheic Keratoses" EXACT [] xref: EFO:0005584 xref: GARD:3108 xref: ICD10CM:L82.1 xref: ICD9CM:702.1 xref: MESH:D017492 xref: NCI:C9006 is_a: DOID:161 ! keratosis is_a: DOID:174 ! acanthoma is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:65 name: connective tissue disease def: "A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage. (DO)" [http://www.niams.nih.gov/Health_Info/Scleroderma/default.asp "DO"] synonym: "connective tissue diseases" EXACT [] synonym: "connective tissue disorder" EXACT [] synonym: "disorder of connective tissue" EXACT [] synonym: "fibroblastic disorder" NARROW [] xref: EFO:0009432 xref: EFO:1001986 xref: MESH:D003240 xref: NCI:C26729 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:9003003 ! Skin and Connective Tissue Diseases [Term] id: DOID:6500 name: cerebellar angioblastoma def: "A hemangioma of the cerebellum that tends to be associated with von Hippel-Lindau disease. (Merriam-Webster)" [] synonym: "cerebellar hemangioblastoma" EXACT [] synonym: "hemangioblastoma of cerebellum" EXACT [] synonym: "sporadic cerebellar hemangioblastoma" NARROW [] xref: MONDO:0003901 xref: NCI:C5146 is_a: DOID:305 ! carcinoma is_a: DOID:4205 ! cerebellum cancer is_a: DOID:501 ! central nervous system hemangioma is_a: DOID:5241 ! hemangioblastoma created_by: rgd creation_date: 2016-09-09T00:00:00Z [Term] id: DOID:6501 name: brain stem angioblastoma def: "A brain stem cancer that is characterized by slow growing, highly vascular tumors that develops from the vascular system, has_material_basis_in abnormally proliferating cells derives_from endothelial cells, pericytes and stromal cells. (DO)" [https://en.wikipedia.org/wiki/Hemangioblastoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/19787293 "DO"] synonym: "hemangioblastoma of brainstem" EXACT [] xref: MONDO:0003902 xref: NCI:C5147 is_a: DOID:305 ! carcinoma is_a: DOID:4203 ! brain stem cancer is_a: DOID:501 ! central nervous system hemangioma is_a: DOID:5241 ! hemangioblastoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:6505 name: vaginal spindle cell epithelioma def: "A benign vaginal carcinosarcoma that has_material_basis_in epithelial cells of the remnants of the vestibular gland and is located_in vagina. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3782956/ "DO"] xref: NCI:C40280 is_a: DOID:135 ! benign vaginal carcinosarcoma [Term] id: DOID:6510 name: lung occult squamous cell carcinoma synonym: "occult squamous cell carcinoma of lung" RELATED [] synonym: "Occult squamous cell carcinoma of the lung" EXACT [NCI2004_11_17:C6686] xref: NCI:C6686 xref: RDO:9002963 is_a: DOID:3907 ! lung squamous cell carcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:6511 name: glandular pattern ovarian yolk sac tumor def: "An ovarian endodermal sinus tumor that is characterized by a glandular pattern on histology. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25395492 "DO"] xref: NCI:C39988 xref: RDO:9005070 is_a: DOID:5350 ! ovarian endodermal sinus tumor created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:6512 name: hepatoid pattern ovarian yolk sac tumor def: "An ovarian endodermal sinus tumor that is characterized by a hepatoid pattern on histology, which involves large polyhedral cells with hyaline bodies but no bile. (DO)" [http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html "DO"] xref: NCI:C39989 xref: RDO:9005071 is_a: DOID:5350 ! ovarian endodermal sinus tumor created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:6514 name: polyvesicular vitelline pattern ovarian yolk sac tumor def: "An ovarian endodermal sinus tumor that is characterized by a polyvesicular vitelline pattern, which involves vesicular structures with eccentric constrictions surrounded by a dense spindle cell stroma. (DO)" [http://www.pathologyoutlines.com/topic/ovarytumoryolksac.html "DO"] xref: NCI:C39987 xref: RDO:9005072 is_a: DOID:5350 ! ovarian endodermal sinus tumor created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:6517 name: clivus meningioma synonym: "meningioma of the clivus" EXACT [] xref: NCI:C5289 is_a: DOID:4211 ! posterior fossa meningioma is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6518 name: Bartholin's gland adenomyoma def: "A Bartholin's gland benign neoplasm that has_material_basis_in gland and muscle components. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9785128 "DO"] synonym: "Bartholin gland adenomyoma" EXACT [] xref: NCI:C40300 is_a: DOID:2068 ! Bartholin's gland benign neoplasm is_a: DOID:2609 ! adenomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6522 name: mixed cell uveal melanoma synonym: "EFO:1000380" EXACT [] xref: EFO:1000380 xref: NCI:C35781 xref: RDO:9003801 is_a: DOID:6039 ! uveal melanoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6523 name: ciliary body mixed cell melanoma xref: NCI:C35783 is_a: DOID:1752 ! ocular melanoma is_a: DOID:6522 ! mixed cell uveal melanoma is_a: DOID:6524 ! malignant ciliary body melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:6524 name: malignant ciliary body melanoma synonym: "malignant melanoma of ciliary body" EXACT [] synonym: "melanoma of the ciliary body" EXACT [] xref: NCI:C4558 is_a: DOID:4352 ! ciliary body cancer [Term] id: DOID:6525 name: choroid mixed cell melanoma xref: NCI:C35782 is_a: DOID:6438 ! malignant choroid melanoma [Term] id: DOID:653 name: purine-pyrimidine metabolic disorder def: "An inherited metabolic disorder involving dysfunction of purine and pyrimidine metabolism. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_purine-pyrimidine_metabolism "DO"] synonym: "inborn errors of purine-pyrimidine metabolism" EXACT [] synonym: "purine-pyrimidine metabolism, inborn errors" EXACT [] xref: ICD10CM:E79.8 xref: ICD9CM:277.2 xref: MESH:D011686 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:6530 name: thymoma type B2 def: "A thymoma type B that is characterized by the presence of neoplastic large, polygonal epithelial cells with large vesicular nuclei and prominent nucleoli. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9964105/ "DO"] synonym: "cortical thymoma" EXACT [] synonym: "polygonal cell thymoma" EXACT [] xref: NCI:C6888 is_a: DOID:3282 ! thymoma type B created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6536 name: plasma cell neoplasm def: "A mature B-cell neoplasm that is composed of plasma cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4665 "DO"] synonym: "EFO:0000200" EXACT [] synonym: "plasma cell dyscrasia" EXACT [] synonym: "plasma cell neoplasms" EXACT [] synonym: "plasma cell tumour" EXACT [] synonym: "plasmacytic tumor" EXACT [] xref: EFO:0000200 xref: MESH:D054219 xref: NCI:C4665 is_a: DOID:706 ! mature B-cell neoplasm [Term] id: DOID:654 name: overnutrition def: "A nutrition disease that is characterized by an excess of a nutritional element, such as a vitamin, mineral, carbohydrate, protein, fat, or general energy content. (DO)" [https://en.wikipedia.org/wiki/Overnutrition "DO"] synonym: "hypernutrition" EXACT [] xref: MESH:D044343 is_a: DOID:374 ! nutrition disease [Term] id: DOID:6543 name: acne def: "A sebaceous gland disease characterized by areas of blackheads, whiteheads, pimples, greasy skin, and possibly scarring. (DO)" [http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance "DO"] synonym: "acne varioliformis" EXACT [] synonym: "acne vulgaris" EXACT [] synonym: "frontalis acne" EXACT [] xref: EFO:0003894 xref: ICD10CM:L70 xref: ICD10CM:L70.2 xref: ICD9CM:706.0 xref: MESH:D000152 is_a: DOID:9001519 ! Acneiform Eruptions is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:6547 name: heart lymphoma synonym: "lymphoma of heart" EXACT [] xref: NCI:C5368 is_a: DOID:0060058 ! lymphoma is_a: DOID:117 ! heart cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6548 name: angiomatous meningioma xref: EFO:1000086 xref: ICDO:9534/0 xref: NCI:C4332 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:655 name: inherited metabolic disorder def: "A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_metabolism "DO", http://www.ncbi.nlm.nih.gov/mesh/68008659 "DO"] synonym: "Carbonic anhydrase I deficiency" RELATED [] synonym: "Carbonic anhydrase I, Guam" RELATED [] synonym: "DISORDERS OF INTRACELLULAR COBALAMIN METABOLISM" NARROW [] synonym: "Inborn Errors of Metabolism" EXACT [] synonym: "inborn metabolism disorder" EXACT [] synonym: "Inborn Metabolism Error" EXACT [] synonym: "metabolic hereditary disorder" EXACT [] synonym: "Metabolism, Inborn Errors" EXACT [] xref: MESH:D008661 xref: MIM:PS249270 xref: NCI:C34816 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:630 ! genetic disease [Term] id: DOID:6552 name: gastric small cell carcinoma def: "This is an aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the stomach. It is characterized by the presence of malignant small cells." [NCI:C6764] synonym: "EFO:1000277" EXACT [] synonym: "gastric oat cell carcinoma" EXACT [] synonym: "gastric small cell neuroendocrine carcinoma" EXACT [] synonym: "oat cell carcinoma of the stomach" EXACT [] synonym: "small cell carcinoma of stomach" EXACT [] synonym: "small cell carcinoma of the stomach" EXACT [] xref: EFO:1000277 xref: NCI:C6764 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:5517 ! stomach carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:6553 name: posterior foramen magnum meningioma synonym: "meningioma of the posterior foramen magnum" EXACT [] xref: NCI:C5282 is_a: DOID:4708 ! foramen magnum meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:6554 name: ovarian clear cell malignant adenofibroma def: "An ovarian cancer that is characterized by low beta-hCG levels and is has_material_basis_in glandular and fibrous tissues, with a relatively large proportion of glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6692303 "DO"] synonym: "ovarian clear cell adenocarcinofibroma" EXACT [] xref: NCI:C40079 xref: RDO:9001899 is_a: DOID:2394 ! ovarian cancer created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:6559 name: ethmoid sinus Schneiderian papilloma synonym: "Schneiderian papilloma of the ethmoid sinus" EXACT [] xref: NCI:C6836 is_a: DOID:1364 ! ethmoidal sinus benign neoplasm is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:656 name: adrenal adenoma def: "An endocrine organ benign neoplasm that is a benign tumor of the glandular type (adenoma) in the adrenal gland. (DO)" [http://en.wikipedia.org/wiki/Adrenal_adenoma "DO"] synonym: "adenoma of the adrenal gland" EXACT [] synonym: "EFO:0003104" EXACT [] xref: EFO:0003104 xref: GARD:5745 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:657 ! adenoma is_a: DOID:9005582 ! Adrenal Cortex Neoplasms created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:6562 name: ethmoid sinus inverted papilloma synonym: "inverted papilloma of the ethmoid sinus" EXACT [] xref: NCI:C6843 is_a: DOID:1364 ! ethmoidal sinus benign neoplasm is_a: DOID:3179 ! inverted papilloma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6564 name: neurilemmoma of the pleura synonym: "schwannoma of pleura" EXACT [] xref: NCI:C5418 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:1532 ! pleural disease is_a: DOID:956 ! peripheral nerve schwannoma [Term] id: DOID:6566 name: posterior uveal melanoma synonym: "medium/large size posterior uveal melanoma" EXACT [] synonym: "small size posterior uveal melanoma" EXACT [] xref: NCI:C9089 xref: NCI:C9090 xref: RDO:9003802 is_a: DOID:6039 ! uveal melanoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6567 name: uterine corpus myxoid leiomyosarcoma def: "A uterine fibroid that is characterized by islands of smooth muscle in myxoid connective tissue that contain large vessels. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26866354 "DO"] xref: NCI:C40175 xref: RDO:9005038 is_a: DOID:5268 ! myxoid leiomyosarcoma is_a: DOID:5289 ! uterus leiomyosarcoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6569 name: micropapillomatosis labialis xref: NCI:C40290 is_a: DOID:2071 ! vulvar squamous papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:657 name: adenoma def: "A cell type benign neoplasm that is composed_of epithelial tissue in which tumor cells form glands or glandlike structures. (DO)" [http://coloncancer.about.com/od/glossaries/g/Adenoma.htm "DO", http://en.wikipedia.org/wiki/Adenoma "DO"] synonym: "acinar cell adenoma" EXACT [] synonym: "acinic cell adenoma" EXACT [] synonym: "adenomas" EXACT [] synonym: "basal cell adenoma" EXACT [] synonym: "Basal Cell Adenomas" EXACT [] synonym: "EFO:0000232" EXACT [] synonym: "Monomorphic Adenoma" EXACT [] synonym: "Monomorphic Adenomas" EXACT [] synonym: "trabecular adenoma" EXACT [] synonym: "trabecular adenomas" EXACT [] xref: EFO:0000232 xref: ICDO:8140/0 xref: MESH:D000236 xref: NCI:C2855 xref: NCI:C4196 is_a: DOID:0060084 ! cell type benign neoplasm is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:6571 name: non-invasive bladder urothelial carcinoma is_a: DOID:4006 ! bladder urothelial carcinoma created_by: rgd creation_date: 2017-09-11T00:00:00Z [Term] id: DOID:6575 name: childhood optic tract astrocytoma synonym: "pediatric visual pathway astrocytoma" EXACT [] xref: NCI:C7534 is_a: DOID:4991 ! optic nerve astrocytoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:6576 name: childhood optic nerve glioma synonym: "glioma of the pediatric visual pathway" EXACT [NCI2004_11_17:C7535] xref: ICD-O:M9380/3 xref: NCI:C7535 xref: RDO:9004495 is_a: DOID:4992 ! optic nerve glioma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6579 name: chest wall bone cancer def: "A bone cancer and malignant neoplasm of chest wall that is located_in the chest wall. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/10451260 "DO"] synonym: "malignant bone neoplasm of chest wall" EXACT [] synonym: "malignant bone tumor of the chest wall" EXACT [] xref: NCI:C6724 is_a: DOID:184 ! bone cancer is_a: DOID:6758 ! chest wall lymphoma [Term] id: DOID:6581 name: breast apocrine carcinoma def: "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm, large round nuclei and sharp cell borders. (DO)" [http://surgpathcriteria.stanford.edu/breast/apocrinecabr/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/23771415 "DO"] synonym: "apocrine carcinoma of breast" EXACT [] xref: NCI:C5141 is_a: DOID:3458 ! breast adenocarcinoma is_a: DOID:4933 ! apocrine carcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6585 name: breast oncocytic carcinoma def: "A breast adenocarcinoma that is characterized by abundant eosinophilic cytoplasm due to large numbers of mitochondria. (DO)" [http://surgpathcriteria.stanford.edu/breast/oncocyticcabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/21111455 "DO"] xref: ICDO:8290/3 xref: NCI:C40366 is_a: DOID:3458 ! breast adenocarcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6587 name: breast tubular carcinoma def: "A breast adenocarcinoma that is characterized as a well-differentiated invasive carcinoma with regular cells arranged in well-defined tubules (typically one layer thick) surrounded by an abundant fibrohyaline stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3893342/ "DO"] synonym: "invasive tubular breast carcinoma" EXACT [] synonym: "invasive tubular carcinoma of breast" EXACT [] synonym: "tubular carcinoma of breast" EXACT [] xref: NCI:C9135 is_a: DOID:3458 ! breast adenocarcinoma is_a: DOID:4929 ! tubular adenocarcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6590 name: spondylitis def: "Inflammation of the SPINE. This includes both arthritic and non-arthritic conditions." [MESH:D013166] synonym: "spondylitides" EXACT [] xref: ICD10CM:M46 xref: ICD9CM:720.8 xref: MESH:D013166 is_a: DOID:0060564 ! spinal disease is_a: DOID:1123 ! spondyloarthropathy is_a: DOID:9005372 ! Inflammation is_a: DOID:9007047 ! Infectious Bone Diseases [Term] id: DOID:6594 name: bladder colonic type adenocarcinoma xref: NCI:C39835 is_a: DOID:3711 ! bladder adenocarcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:6595 name: gastric tubular adenocarcinoma synonym: "EFO:1000030" EXACT [] synonym: "tubular adenocarcinoma of stomach" EXACT [NCI2004_11_17:C5473] xref: EFO:1000030 xref: EFO:1000279 xref: NCI:C5473 xref: RDO:9002473 is_a: DOID:3717 ! gastric adenocarcinoma is_a: DOID:4929 ! tubular adenocarcinoma created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:66 name: muscle tissue disease def: "A muscular disease located in the muscle tissue. (DO)" [https://medlineplus.gov/muscledisorders.html "DO"] synonym: "muscle tissue disorder" EXACT [] xref: MONDO:0003939 is_a: DOID:0080000 ! muscular disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:660 name: adrenal cortex cancer synonym: "adrenal cortex cancers" EXACT [] synonym: "adrenocortical cancer" EXACT [] synonym: "adrenocortical cancers" EXACT [] synonym: "cancer of adrenal cortex" EXACT [] synonym: "cancer of the adrenal cortex" EXACT [] synonym: "EFO:1000796" EXACT [] synonym: "malignant adrenocortical tumor" EXACT [] synonym: "malignant neoplasm of adrenal cortex" EXACT [] synonym: "malignant tumour of adrenal cortex" EXACT [] xref: EFO:1000796 xref: ICD10CM:C74.0 xref: NCI:C2858 xref: NCI:C9327 is_a: DOID:3953 ! adrenal gland cancer is_a: DOID:9005582 ! Adrenal Cortex Neoplasms created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:6603 name: Kummell's disease synonym: "Kummell's spondylitis" EXACT [] synonym: "Kummell disease" EXACT [] synonym: "traumatic spondylopathy" EXACT [] xref: ICD10CM:M48.3 xref: ICD9CM:721.7 is_a: DOID:1123 ! spondyloarthropathy created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6605 name: classic variant of chromophobe renal cell carcinoma xref: NCI:C27888 xref: RDO:9004806 is_a: DOID:4471 ! chromophobe renal cell carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6606 name: eosinophilic variant of chromophobe renal cell carcinoma xref: NCI:C27889 xref: RDO:9004807 is_a: DOID:4471 ! chromophobe renal cell carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6607 name: nervous system hibernoma synonym: "hibernoma of nervous system" EXACT [] xref: NCI:C6997 is_a: DOID:6293 ! central nervous system lipoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:6608 name: endobronchial leiomyoma xref: NCI:C5661 is_a: DOID:5136 ! lung leiomyoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:6610 name: bone epithelioid hemangioma synonym: "bone hemangioma" EXACT [] synonym: "hemangioma of bone" EXACT [] synonym: "osseous epithelioid hemangioma" EXACT [NCI2004_11_17:C5396] synonym: "osseous hemangioma" EXACT [NCI2004_11_17:C6477] xref: EFO:1000132 xref: NCI:C5396 xref: NCI:C6477 is_a: DOID:0060094 ! bone benign neoplasm [Term] id: DOID:6612 name: leukocyte adhesion deficiency def: "A combined T cell and B cell immunodeficiency that is characterized by defects affecting how white blood cells respond and travel to the site of a wound or infection affecting the immune system. (DO)" [https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK539770/ "DO"] synonym: "congenital leukocyte adherence deficiency" EXACT [] synonym: "Leukocyte-Adhesion Deficiency Syndrome" EXACT [] synonym: "Leukocyte-Adhesion Deficiency Syndromes" EXACT [] xref: EFO:1001359 xref: GARD:9544 xref: MESH:D018370 xref: NCI:C27874 xref: ORDO:2968 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:628 ! combined T cell and B cell immunodeficiency is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:6613 name: vaginal villous adenoma def: "A vaginal adenoma that is a polyp that resembles colorectal villous adenoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/18603704 "DO"] xref: NCI:C40259 is_a: DOID:5402 ! vaginal adenoma [Term] id: DOID:6620 name: X-linked hyper IgM syndrome def: "A hyper IgM syndrome that is characterized by neutropenia and a high rate of gastrointestinal and central nervous system infections and that has_material_basis_in a mutation in the CD40LG gene on chromosome Xq26.3. (DO)" [https://ghr.nlm.nih.gov/condition/x-linked-hyper-igm-syndrome "DO"] synonym: "hyper-IgM immunodeficiency syndrome type 1" EXACT [] synonym: "hyper-IgM syndrome 1" EXACT [] synonym: "hyper-IgM syndrome type 1" EXACT [] synonym: "hyperimmunoglobulin M syndrome" EXACT [] synonym: "immunodeficiency with hyper IgM type 1" EXACT [] xref: GARD:73 xref: NCI:C158531 xref: NCI:C3990 xref: ORDO:101088 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0080544 ! hyper IgM syndrome [Term] id: DOID:6621 name: cerebral angioma def: "A brain angioma that is characterized by vascular abnormalities that develops from cranial and spinal blood vasculature, has_material_basis_in abnormally proliferating cells, derives_from endothelial cells in and about the vascular lumen. (DO)" [https://en.wikipedia.org/wiki/Cavernous_hemangioma "DO"] synonym: "hemangioma of cerebrum" EXACT [] xref: NCI:C5433 is_a: DOID:5393 ! brain angioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6627 name: cervical adenoma malignum def: "A cervical mucinous adenocarcinoma that is well differentiated, consisting of an endocervical glandular hyperplasia of lobular architecture resembling glands but with the characteristics of adenocarcinoma. (DO)" [http://www.pathologyoutlines.com/topic/cervixadenomamalignum.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23936961 "DO"] synonym: "Cervical Mucinous Adenocarcinoma, Gastric Type" EXACT [] synonym: "cervical mucinous adenocarcinoma, minimal deviation type" EXACT [] synonym: "Cervical Mucinous Adenocarcinoma, Minimal Deviation Variant" EXACT [] synonym: "EFO:1000169" EXACT [] synonym: "HPV-Independent Cervical Adenocarcinoma, Gastric-Type" EXACT [] synonym: "Human Papillomavirus-Independent Cervical Adenocarcinoma, Gastric-Type" EXACT [] xref: EFO:1000169 xref: NCI:C40206 is_a: DOID:3701 ! cervical mucinous adenocarcinoma [Term] id: DOID:6629 name: nipple carcinoma def: "A breast carcinoma that is located_in the nipple. (DO)" [http://www.cancer.gov/dictionary?CdrID=45963 "DO"] xref: NCI:C28432 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:663 name: scrotal angioma synonym: "angioma of scrotum" EXACT [] synonym: "hemangioma of scrotum" EXACT [] synonym: "scrotal hemangioma" EXACT [] synonym: "scrotum hemangioma" EXACT [] xref: MONDO:0003951 xref: NCI:C6387 is_a: DOID:471 ! skin hemangioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6634 name: adult central nervous system choriocarcinoma def: "A choriocarcinoma that is located in the central nervous system of an adult. (DO)" [https://en.wikipedia.org/wiki/Choriocarcinoma "DO"] synonym: "choriocarcinoma of the adult central nervous system" EXACT [] xref: NCI:C5793 is_a: DOID:3594 ! choriocarcinoma is_a: DOID:3620 ! central nervous system cancer created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6639 name: childhood CNS choriocarcinoma def: "A choriocarcinoma characterized by extraembryonic differentiation along trophoblastic lines and high serum and CSF levels of HCG/_-HCG, has_material_basis_in abnormally proliferating cells, derives_from germ cells. (DO)" [http://www.ajnr.org/content/31/10/1994 "DO"] synonym: "choriocarcinoma of the paediatric central nervous system" EXACT [] synonym: "choriocarcinoma of the pediatric central nervous system" EXACT [] synonym: "paediatric CNS choriocarcinoma" EXACT [] synonym: "pediatric CNS choriocarcinoma" EXACT [] xref: ICD-O:M9100/3 xref: NCI:C6206 is_a: DOID:3594 ! choriocarcinoma is_a: DOID:6052 ! central nervous system childhood germ cell tumor created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:664 name: angiokeratoma of Fordyce synonym: "Fordyce's spot" EXACT [] synonym: "Fordyce angiokeratoma" EXACT [] synonym: "Fordyce-type angiokeratoma of scrotum" EXACT [] xref: NCI:C7752 is_a: DOID:3165 ! skin benign neoplasm created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6641 name: breast juvenile papillomatosis def: "A breast benign neoplasm that is characterized by a discrete, muticystic breast lesion that occurs at a median age of 20 years. (DO)" [http://surgpathcriteria.stanford.edu/breast/juvpapillomatosis/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/7074576 "DO"] synonym: "juvenile papillomatosis of the breast" EXACT [] xref: NCI:C9503 is_a: DOID:0060082 ! breast benign neoplasm created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6643 name: Baastrup's syndrome synonym: "Baastrup syndrome" EXACT [] synonym: "Kissing spine" EXACT [ICD9CM_2006:721.5] xref: ICD10CM:M48.2 xref: ICD10CM:M48.20 xref: ICD9CM:721.5 xref: RDO:9003746 is_a: DOID:1123 ! spondyloarthropathy is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6648 name: adult pineoblastoma xref: NCI:C8292 is_a: DOID:5031 ! adult pineal parenchymal tumor [Term] id: DOID:6652 name: diffuse idiopathic skeletal hyperostosis alt_id: MIM:106400 def: "A calcinosis that is the calcification or a bony hardening of ligaments in areas where they attach to your spine. (DO)" [http://www.mayoclinic.com/health/diffuse-idiopathic-skeletal-hyperostosis/DS00740 "DO"] synonym: "ankylosing vertebral hyperostosis with tylosis" EXACT [] synonym: "DISH" EXACT [] synonym: "disseminated idiopathic skeletal hyperostosis" EXACT [] synonym: "Forestier's Disease" EXACT [] synonym: "Forestier disease" EXACT [] synonym: "Forestier Rotes disease" EXACT [] synonym: "Forestiers disease" EXACT [] synonym: "vertebral ankylosing hyperostoses" EXACT [] synonym: "vertebral ankylosing hyperostosis" EXACT [] xref: EFO:0007236 xref: GARD:6460 xref: ICD10CM:M48.1 xref: ICD9CM:721.6 xref: MESH:D004057 xref: NCI:C84671 is_a: DOID:182 ! calcinosis is_a: DOID:205 ! hyperostosis is_a: DOID:9003439 ! Spinal Osteophytosis [Term] id: DOID:6654 name: childhood central nervous system immature teratoma xref: NCI:C27405 xref: RDO:9004046 is_a: DOID:6019 ! central nervous system immature teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6657 name: breast large cell neuroendocrine carcinoma def: "A breast carcinoma that is characterized by large cell size, polygonal shape, low nuclear-cytoplasmic ratio, finely granular eosinophilic cytoplasm, occasionally prominent nucleoli, peripheral palisading, mitosis, and necrosis and in which greater than 50% of the tumor cells are positive for neuroendocrine markers (NSE, chromogranin A, synaptophysin). (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608661/ "DO"] xref: NCI:C40356 is_a: DOID:1800 ! neuroendocrine carcinoma is_a: DOID:3459 ! breast carcinoma is_a: DOID:4552 ! large cell carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:6658 name: pulmonary large cell neuroendocrine carcinoma xref: NCI:C5672 xref: NCI:C6875 is_a: DOID:0050872 ! large cell neuroendocrine carcinoma is_a: DOID:4556 ! lung large cell carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:6659 name: cervical large cell neuroendocrine carcinoma def: "A cervix carcinoma that has_material_basis_in neuroendocrine tissue and is characterized by a diffuse, organoid, trabecular, or cord-like pattern of neoplastic cells with abundant cytoplasm, large nuclei, prominent nucleoli, and a high mitotic rate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30642849 "DO"] synonym: "EFO:1000167" EXACT [] xref: EFO:1000167 xref: NCI:C40214 is_a: DOID:2893 ! cervix carcinoma is_a: DOID:4552 ! large cell carcinoma [Term] id: DOID:6676 name: Froelich syndrome def: "A hypothalamic disease that is characterized by endocrine dysfunction of the hypothalamic gland resulting in delayed puberty, small testes, and obesity. (DO)" [https://en.wikipedia.org/wiki/Adiposogenital_dystrophy "DO"] synonym: "adiposogenital syndrome" EXACT [] synonym: "Babinski-Froelich syndrome" EXACT [] synonym: "Froehlich's syndrome" EXACT [] synonym: "Froehlichs Syndrome" EXACT [] synonym: "Froehlich syndrome" EXACT [] synonym: "Froelich's syndrome" EXACT [] xref: GARD:6463 xref: NCI:C34625 is_a: DOID:9001888 ! Hypothalamic Obesity [Term] id: DOID:6677 name: diffuse infiltrative lymphocytosis syndrome def: "A syndrome that occurs in human immunodeficiency virus (HIV) positive patients, which is accompanied by decreased kidney function. The spectrum of kidney involvement includes acute or chronic kidney disease, primarily tubular proteinuria and dense lymphocytic tubulointerstitial infiltrates predominantly composed of CD8 T cells. (DO)" [http://en.wikipedia.org/wiki/Diffuse_infiltrative_lymphocytosis_syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/21295898 "DO"] xref: NCI:C35699 xref: RDO:9004856 is_a: DOID:225 ! syndrome is_a: DOID:526 ! human immunodeficiency virus infectious disease is_a: DOID:9001779 ! Lymphocytosis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:6678 name: tooth and nail syndrome alt_id: MIM:189500 def: "A syndrome that affects the teeth, nails, hair, and/or skin. It is characterized by absence (hypodontia) and/or malformation of certain primary (deciduous) and secondary (permanent) teeth occurring in association with improper development of the nails, particularly the toenails. (DO)" [http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tooth%20and%20Nail%20Syndrome "DO"] synonym: "dysplasia of nails with hypodontia" EXACT [] synonym: "ECTD3" EXACT [] synonym: "ECTODERMAL DYSPLASIA 3, TOOTH/NAIL TYPE" EXACT [] synonym: "ECTODERMAL DYSPLASIA 3, WITKOP TYPE" EXACT [] synonym: "hypoplastic enamel-onycholysis-hypohidrosis syndrome" EXACT [] synonym: "nail dysplasia with hypodontia" EXACT [] synonym: "TNS" EXACT [] synonym: "Witkop's syndrome" EXACT [] synonym: "Witkop syndrome" EXACT [] xref: MESH:C536736 xref: NCI:C40553 is_a: DOID:13714 ! anodontia is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:668 name: myositis ossificans def: "A myositis that is accompanied by ossification of muscle tissue or bony deposits in the muscles. (DO)" [http://en.wikipedia.org/wiki/Myositis_ossificans "DO", http://www.merriam-webster.com/medlineplus/myositis "DO"] synonym: "myisitis ossificans" EXACT [] synonym: "ossification - muscle" EXACT [] xref: MESH:D009221 xref: NCI:C3253 is_a: DOID:633 ! myositis [Term] id: DOID:6680 name: Capgras syndrome def: "A delusional disorder in which a person holds a delusion that a friend, spouse, parent, or other close family member has been replaced by an identical-looking impostor. (DO)" [http://en.wikipedia.org/wiki/Capgras_delusion "DO"] synonym: "Capgras delusion theory" EXACT [] xref: MESH:D002194 xref: NCI:C34446 is_a: DOID:225 ! syndrome is_a: DOID:778 ! delusional disorder [Term] id: DOID:6682 name: spondylolisthesis alt_id: MIM:184200 def: "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae. (DO)" [http://en.wikipedia.org/wiki/Spondylolisthesis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001260.htm "DO", http://www.umm.edu/spinecenter/education/spondylolysis_spondylolisthesis.htm "DO"] synonym: "Spondylistheses" EXACT [] synonym: "Spondylisthesis" EXACT [] synonym: "Spondylolistheses" EXACT [] xref: EFO:0007493 xref: ICD10CM:M43.1 xref: ICD10CM:M43.10 xref: MESH:D013168 xref: NCI:C35033 is_a: DOID:0080010 ! bone structure disease is_a: DOID:2300 ! spondylolysis [Term] id: DOID:6683 name: X-linked Aarskog syndrome alt_id: MIM:227330 alt_id: MIM:305400 def: "A syndromic X-linked intellectual disability affects a person's height, muscles, skeleton, genitals, and appearance of the face. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001654.htm "DO"] synonym: "Aarskog-like syndrome" EXACT [] synonym: "Faciodigitogenital Syndrome, Recessive" EXACT [] synonym: "FACIOGENITAL DYSPLASIA WITH ATTENTION DEFICIT-HYPERACTIVITY DISORDER" NARROW [] synonym: "FGD1-RELATED CONDITION" EXACT [] synonym: "FGD1-RELATED DISORDERS" EXACT [] synonym: "Greig's syndrome" EXACT [] synonym: "Kuwait Type faciodigitogenital syndrome" EXACT [] synonym: "MRXS16" NARROW [] synonym: "syndromic X-linked mental retardation 16" NARROW [] xref: GARD:4775 xref: NCI:C129720 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:0111824 ! Aarskog syndrome [Term] id: DOID:6686 name: Achard syndrome alt_id: MIM:100700 def: "A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. (DO)" [http://en.wikipedia.org/wiki/Achard_syndrome "DO"] synonym: "arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet" EXACT [] synonym: "dysostoses and increased ligament laxity" EXACT [] xref: GARD:8176 xref: MESH:C536012 xref: NCI:C35809 is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:9005077 ! Joint Instability is_a: DOID:9005367 ! Arachnodactyly [Term] id: DOID:6687 name: Achenbach syndrome synonym: "paroxysmal hematoma of the finger" EXACT [] xref: EFO:1000661 xref: NCI:C35467 is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6688 name: autoimmune lymphoproliferative syndrome alt_id: MIM:601859 def: "A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen. (DO)" [http://ghr.nlm.nih.gov/condition/autoimmune-lymphoproliferative-syndrome "DO"] synonym: "ALPS" EXACT [] synonym: "ALPS1A" NARROW [] synonym: "ALPS1B" NARROW [] synonym: "autoimmune lymphoproliferative syndromes" EXACT [] synonym: "Autoimmune Lymphoproliferative Syndrome Type 1, Autosomal Dominant" EXACT [] synonym: "Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Dominant" EXACT [] synonym: "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL DOMINANT AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE IA" NARROW [] synonym: "AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE I, AUTOSOMAL RECESSIVE" NARROW [] synonym: "autoimmune lymphoproliferative syndrome, type IB" NARROW [] synonym: "Canale-Smith syndrome" EXACT [] synonym: "Canale Smith syndromes" EXACT [] xref: GARD:8686 xref: ICD10CM:D89.82 xref: ICD9CM:279.41 xref: MESH:D056735 xref: NCI:C37864 xref: ORDO:3261 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:2916 ! hypersensitivity reaction type IV disease is_a: DOID:417 ! autoimmune disease is_a: DOID:630 ! genetic disease [Term] id: DOID:6691 name: Aagenaes syndrome alt_id: MIM:214900 def: "A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. (DO)" [http://en.wikipedia.org/wiki/Aagenaes_syndrome "DO"] synonym: "CHLS" EXACT [] synonym: "cholestasis-edema syndrome, Norwegian type" EXACT [] synonym: "Cholestasis lymphedema syndrome" EXACT [] synonym: "LCS" EXACT [] synonym: "LCS1" EXACT [] xref: GARD:370 xref: MESH:C535330 xref: NCI:C35709 xref: ORDO:1414 is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema [Term] id: DOID:6692 name: Barre-Lieou syndrome def: "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1738935/ "DO"] synonym: "cervicocranial syndrome" EXACT [] synonym: "posterior cervical sympathetic syndrome" EXACT [] synonym: "syndrome of Barre Lieou" EXACT [] xref: EFO:0007165 xref: ICD10CM:M53.0 xref: MESH:D055010 xref: NCI:C34411 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:6693 name: testicular monophasic choriocarcinoma def: "A choriocarcinoma of the testis that is characterized by a composition of only cytotrophoblasts and absent syncytiotrophoblastic giant cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/9060597/ "DO"] xref: NCI:C39935 is_a: DOID:5551 ! choriocarcinoma of the testis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6696 name: synchronous multifocal osteogenic sarcoma xref: NCI:C6471 is_a: DOID:3360 ! multifocal osteogenic sarcoma [Term] id: DOID:6697 name: asynchronous multifocal osteogenic sarcoma xref: NCI:C6472 is_a: DOID:3360 ! multifocal osteogenic sarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:670 name: amphetamine abuse def: "A substance abuse that involves the recurring use of amphetamines despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Amphetamine_Abuse "DO"] synonym: "Amphetamine Addiction" NARROW [] synonym: "Amphetamine Dependence" NARROW [] synonym: "amphetamine-related disorder" EXACT [] synonym: "amphetamine-related disorders" EXACT [] synonym: "amphetamine use disorder" EXACT [] synonym: "methamphetamine dependence" NARROW [] synonym: "METHAMPHETAMINE USE DISORDER" NARROW [] xref: EFO:0004701 xref: ICD9CM:305.7 xref: MESH:D019969 is_a: DOID:302 ! substance abuse [Term] id: DOID:6700 name: gastric fundus carcinoma synonym: "cancer of fundus of stomach" RELATED [] synonym: "carcinoma of fundus of stomach" RELATED [] xref: NCI:C8398 is_a: DOID:10538 ! gastric fundus cancer is_a: DOID:5517 ! stomach carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:6703 name: gastric pylorus carcinoma synonym: "carcinoma of pylorus of stomach" EXACT [] xref: MONDO:0003971 xref: NCI:C6795 is_a: DOID:10544 ! pylorus cancer is_a: DOID:5517 ! stomach carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:6705 name: gastric body carcinoma synonym: "cancer of body of stomach" EXACT [] synonym: "carcinoma of body of stomach" EXACT [] xref: NCI:C8399 xref: RDO:9001934 is_a: DOID:5517 ! stomach carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:6706 name: tubular variant testicular seminoma xref: NCI:C40959 is_a: DOID:5842 ! testis seminoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6707 name: malignant triton tumor synonym: "malignant peripheral nerve sheath neoplasm with rhabdomyosarcoma" EXACT [] synonym: "malignant triton tumour" EXACT [] synonym: "MPNST with rhabdomyoblastic differentiation" EXACT [] synonym: "MPNST with rhabdomyosarcoma" EXACT [] xref: NCI:C4335 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6712 name: anterior spinal artery syndrome def: "A syndrome that is characterized by loss of function of the anterior two-thirds of the spinal cord that results from ischemia of the anterior spinal artery. (DO)" [https://en.wikipedia.org/wiki/Anterior_spinal_artery_syndrome "DO"] synonym: "Anterior Spinal Artery Dissection" EXACT [] synonym: "Anterior spinal artery occlusion syndrome" EXACT [] xref: EFO:1000810 xref: GARD:9653 xref: ICD10CM:G83.82 xref: MESH:D020759 is_a: DOID:0050828 ! artery disease is_a: DOID:225 ! syndrome is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9004922 ! Spinal Cord Ischemia [Term] id: DOID:6713 name: cerebrovascular disease def: "An vascular disease that is characterized by dysfunction of the blood vessels supplying the brain. (DO)" [http://en.wikipedia.org/wiki/Cerebrovascular_disease "DO", http://www.ncbi.nlm.nih.gov/books/NBK378/ "DO"] synonym: "brain vascular disorder" EXACT [] synonym: "brain vascular disorders" EXACT [] synonym: "cerebrovascular diseases" EXACT [] synonym: "cerebrovascular disorder" EXACT [] synonym: "cerebrovascular disorders" EXACT [] synonym: "cerebrovascular insufficiencies" EXACT [] synonym: "Cerebrovascular Insufficiency" EXACT [] synonym: "cerebrovascular occlusion" EXACT [] synonym: "cerebrovascular occlusions" EXACT [] synonym: "intracranial vascular disease" EXACT [] synonym: "intracranial vascular diseases" EXACT [] synonym: "intracranial vascular disorder" EXACT [] synonym: "intracranial vascular disorders" EXACT [] xref: EFO:0003763 xref: ICD10CM:I67.9 xref: ICD9CM:437.9 xref: MESH:D002561 xref: NCI:C2938 is_a: DOID:178 ! vascular disease is_a: DOID:936 ! brain disease [Term] id: DOID:672 name: spleen cancer def: "A lymphatic system cancer that affects white blood cells and involves tumor deposits in the spleen. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3614769/ "DO"] synonym: "cancer of spleen" EXACT [] synonym: "EFO:0007491" EXACT [] synonym: "malignant Splenic tumor" EXACT [NCI2004_11_17:C3539] synonym: "malignant tumour of spleen" EXACT [SNOMEDCT_2005_07_31:254616004] synonym: "spleen cancers" EXACT [] synonym: "splenic cancer" EXACT [] synonym: "splenic cancers" EXACT [] xref: EFO:0007491 xref: GARD:7683 xref: ICD10CM:C26.1 xref: NCI:C3383 xref: NCI:C3539 xref: RDO:9003650 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:9005343 ! Splenic Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6721 name: Littre gland carcinoma def: "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Littre glands. (DO)" [http://en.wikipedia.org/wiki/Urethral_gland "DO"] xref: NCI:C39865 is_a: DOID:305 ! carcinoma is_a: DOID:3856 ! male reproductive organ cancer [Term] id: DOID:6723 name: malignant type AB thymoma synonym: "Thymoma, mixed type, malignant" EXACT [SNOMEDCT_2005_07_31:128710005] xref: NCI:C6886 is_a: DOID:3280 ! mixed type thymoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6725 name: spinal stenosis def: "A bone deterioration disease that has_material_basis_in bony spurs, disc degeneration, or thickened ligaments which results_in narrowing located_in spinal cord. (DO)" [http://en.wikipedia.org/wiki/Spinal_stenosis "DO", http://www.mayoclinic.com/health/spinal-stenosis/DS00515 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000441.htm "DO"] synonym: "cervical spinal stenosis" EXACT [] synonym: "lumbar spinal stenosis" EXACT [] synonym: "spinal stenoses" EXACT [] synonym: "spinal stenosis of lumbar region" EXACT [] xref: EFO:0007490 xref: ICD10CM:M48.0 xref: ICD10CM:M48.02 xref: ICD10CM:M48.061 xref: ICD9CM:723.0 xref: ICD9CM:724.00 xref: MESH:D013130 xref: NCI:C177444 xref: NCI:C177445 is_a: DOID:0080007 ! bone deterioration disease [Term] id: DOID:6726 name: fibrillary astrocytoma def: "A malignant astrocytoma that is characterized as a low grade astrocytoma and has_material_basis_in neoplastic astrocytes. (DO)" [http://en.wikipedia.org/wiki/Fibrillary_astrocytoma "DO", http://www.cancer.gov/dictionary?CdrID=45602 "DO"] synonym: "fibrillary astrocytic tumors" EXACT [] synonym: "fibrillary astrocytomas" EXACT [] synonym: "fibrous astrocytoma" EXACT [] xref: ICDO:9420/3 xref: NCI:C4322 is_a: DOID:3069 ! malignant astrocytoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6727 name: colon small cell carcinoma synonym: "Colonic small cell carcinoma" EXACT [NCI2004_11_17:C6761] xref: NCI:C6761 xref: RDO:9003834 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:1520 ! colon carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6733 name: intrahepatic bile duct cystadenoma def: "A bile duct cystadenoma located_in an intrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/19630118/ "DO"] synonym: "cystadenoma of the intrahepatic bile duct" EXACT [] xref: NCI:C96835 is_a: DOID:5384 ! bile duct cystadenoma is_a: DOID:5437 ! intrahepatic bile duct adenoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:6735 name: schwannoma of jugular foramen synonym: "neurilemmoma of jugular foramen" EXACT [] xref: NCI:C5323 is_a: DOID:956 ! peripheral nerve schwannoma [Term] id: DOID:674 name: cleft palate alt_id: MIM:119540 def: "An orofacial cleft characterized by a fissure of the soft and/or hard palate, due to faulty fusion of the two plates of the skull that form the hard palate. (DO)" [http://en.wikipedia.org/wiki/Cleft_lip_and_palate#Cleft_palate "DO", http://ghr.nlm.nih.gov/glossary=cleftpalate "DO"] synonym: "cleft palates" EXACT [] synonym: "CP" EXACT [] synonym: "CPI" EXACT [] synonym: "NONSYNDROMIC CLEFT PALATE" NARROW [] synonym: "palatoschisis" EXACT [] synonym: "uranostaphyloschisis" EXACT [] xref: EFO:0003920 xref: ICD10CM:Q35 xref: ICD9CM:749.0 xref: MESH:D002972 xref: MONDO:0016064 xref: NCI:C87069 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9001018 ! Mouth Abnormalities [Term] id: DOID:6740 name: cervix small cell carcinoma synonym: "EFO:1000171" EXACT [] synonym: "small cell carcinoma of the cervix" RELATED [] synonym: "small cell carcinoma of the Cervix Uteri" EXACT [NCI2004_11_17:C7982] xref: EFO:1000171 xref: NCI:C7982 is_a: DOID:2893 ! cervix carcinoma created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:6741 name: bilateral breast cancer def: "A breast carcinoma that is characterized by an individual having breast cancer in both breasts, either simultaneously or at different times. (DO)" [http://www.ehow.com/facts_5923640_treatments-bilateral-breast-cancer_.html "DO"] synonym: "bilateral breast carcinoma" EXACT [] xref: NCI:C8287 xref: RDO:9001805 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:6742 name: synchronous bilateral breast carcinoma xref: NCI:C40370 xref: RDO:9001806 is_a: DOID:6741 ! bilateral breast cancer created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:6752 name: internal auditory canal lipoma def: "An auditory system benign neoplasm that derives_from adipose tissue and is located_in the internal auditory canal. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19813171 "DO"] synonym: "lipoma of the internal auditory canal" EXACT [] xref: NCI:C5452 is_a: DOID:0080619 ! auditory system benign neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6755 name: amyloid tumor synonym: "amyloid neoplasm" EXACT [] synonym: "amyloid tumour" EXACT [] is_a: DOID:3350 ! mesenchymal cell neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:6758 name: chest wall lymphoma def: "A thoracic cancer that is located_in the chest wall. (DO)" [http://en.wikipedia.org/wiki/Chest_wall "DO"] synonym: "chest wall cancer" EXACT [] synonym: "lymphoma of chest wall" EXACT [] synonym: "lymphoma of the chest wall" EXACT [] synonym: "malignant neoplasm of chest wall" EXACT [] synonym: "malignant tumor of chest wall" EXACT [] xref: NCI:C4580 xref: NCI:C6712 is_a: DOID:0060058 ! lymphoma is_a: DOID:5093 ! thoracic cancer created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:6759 name: bone lymphoma def: "A bone cancer and lymphoma by site that results_in lymphoma starting in the bone. (DO)" [http://lymphoma.about.com/od/nonhodgkinlymphoma/qt/bonelymphoma.htm "DO"] synonym: "lymphoma of bone" EXACT [] synonym: "lymphoma of the bone" EXACT [] xref: NCI:C6620 is_a: DOID:0060058 ! lymphoma is_a: DOID:184 ! bone cancer [Term] id: DOID:676 name: juvenile rheumatoid arthritis alt_id: MIM:618795 def: "A rheumatoid arthritis that involves an autoimmune disease onset in children under 16 which attacks the healthy cells and tissue of located_in joint. (DO)" [http://www.mayoclinic.com/health/juvenile-rheumatoid-arthritis/DS00018 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000451.htm "DO", http://www.umm.edu/ency/article/000451.htm "DO"] synonym: "acute juvenile rheumatoid arthritis" NARROW [] synonym: "enthesitis-related juvenile idiopathic arthritis" NARROW [] synonym: "extended oligoarticular juvenile idiopathic arthritis" NARROW [] synonym: "juvenile arthritis" EXACT [] synonym: "juvenile chronic arthritis" NARROW [] synonym: "juvenile chronic polyarthritis" NARROW [] synonym: "juvenile enthesitis-related arthritis" NARROW [] synonym: "juvenile idiopathic arthritis" NARROW [] synonym: "juvenile oligoarthritis" NARROW [] synonym: "Juvenile-Onset Still's Disease" EXACT [] synonym: "Juvenile Onset Still Disease" EXACT [] synonym: "Juvenile Onset Stills Disease" EXACT [] synonym: "juvenile polyarthritis, rheumatoid factor negative" NARROW [] synonym: "juvenile polyarthritis, rheumatoid factor positive" NARROW [] synonym: "juvenile psoriatic arthritis" NARROW [] synonym: "juvenile systemic arthritis" NARROW [] synonym: "monarticular juvenile rheumatoid arthritis" NARROW [] synonym: "pauciarticular juvenile arthritis" NARROW [] synonym: "pauciarticular onset juvenile chronic arthritis" NARROW [] synonym: "polyarticular juvenile idiopathic arthritis" NARROW [] synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid factor negative" NARROW [] synonym: "polyarticular juvenile idiopathic arthritis, rheumatoid factor positive" NARROW [] synonym: "psoriasis-related juvenile idiopathic arthritis" NARROW [] synonym: "Still's disease" EXACT [] synonym: "unspecified juvenile idiopathic arthritis" NARROW [] xref: EFO:0002609 xref: EFO:0009730 xref: EFO:0009731 xref: EFO:0009732 xref: EFO:0009733 xref: EFO:0009734 xref: EFO:0009746 xref: EFO:1002007 xref: EFO:1002020 xref: GARD:3067 xref: ICD10CM:M08.4 xref: ICD9CM:714.3 xref: ICD9CM:714.31 xref: ICD9CM:714.32 xref: ICD9CM:714.33 xref: MESH:D001171 xref: NCI:C26979 xref: NCI:C61279 xref: ORDO:92 is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:6760 name: lung lymphoma synonym: "lymphoma of lung" EXACT [] synonym: "pulmonary lymphoma" EXACT [] is_a: DOID:0060058 ! lymphoma is_a: DOID:1324 ! lung cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6762 name: sternum lymphoma synonym: "lymphoma of sternum" EXACT [] synonym: "lymphoma of the sternum" EXACT [] xref: NCI:C6716 is_a: DOID:0060058 ! lymphoma is_a: DOID:5090 ! sternum cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6774 name: polyembryoma of the ovary def: "An ovarian primitive germ cell tumor that is dominantly composed of embryoid bodies. (DO)" [https://en.wikipedia.org/wiki/Polyembryoma "DO"] xref: NCI:C39990 xref: RDO:9005073 is_a: DOID:5351 ! ovarian primitive germ cell tumor created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:6776 name: breast myoepithelial carcinoma def: "A breast carcinome that is composed entirely or almost entirely of malignant spindle cells with myoepithelial differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4840516/ "DO"] xref: NCI:C40395 is_a: DOID:3004 ! breast myoepithelial neoplasm is_a: DOID:3459 ! breast carcinoma is_a: DOID:4838 ! myoepithelial carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:6777 name: villoglandular endometrial endometrioid adenocarcinoma def: "An endometrial adenocarcinoma that is characterized by papillary differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8179072 "DO"] xref: NCI:C27846 xref: RDO:9002082 is_a: DOID:2870 ! endometrial adenocarcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:678 name: progressive supranuclear palsy def: "A movement disease that is characterized by serious and progressive problems with control of gait and balance, along with complex eye movement and thinking problems. It involves gradual deterioration and death of specific volumes of the brain. (DO)" [http://en.wikipedia.org/wiki/Progressive_supranuclear_palsy "DO", http://www.ninds.nih.gov/disorders/psp/psp.htm "DO"] synonym: "Progressive Supranuclear Ophthalmoplegia" EXACT [] synonym: "progressive supranuclear palsies" EXACT [] synonym: "PSP" EXACT [] synonym: "Richardson's Syndrome" EXACT [] synonym: "Richardson Syndrome" EXACT [] synonym: "Steele Richardson Olszewski Disease" EXACT [] synonym: "Steele Richardson Olszewski Syndrome" EXACT [] xref: EFO:0002512 xref: GARD:7471 xref: ICD10CM:G23.1 xref: MESH:D013494 xref: MIM:PS601104 xref: MONDO:0019037 xref: NCI:C85028 xref: ORDO:683 is_a: DOID:480 ! movement disease is_a: DOID:539 ! ophthalmoplegia is_a: DOID:679 ! basal ganglia disease is_a: DOID:680 ! tauopathy [Term] id: DOID:6785 name: desmoplastic small round cell tumor def: "A small cell sarcoma that is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. (DO)" [https://en.wikipedia.org/wiki/Desmoplastic_small-round-cell_tumor "DO", https://www.cancer.gov/pediatric-adult-rare-tumor/rare-tumors/rare-soft-tissue-tumors/desmoplastic-small-round-cell-tumors "DO"] synonym: "desmoplastic small cell tumor" EXACT [] synonym: "desmoplastic small-cell tumors" EXACT [] synonym: "desmoplastic small round-cell neoplasm" EXACT [] synonym: "EFO:1000895" RELATED [] xref: EFO:1000895 xref: GARD:6265 xref: ICDO:8806/3 xref: MESH:D058405 xref: MONDO:0019373 xref: NCI:C8300 is_a: DOID:3098 ! small cell sarcoma created_by: mtutaj creation_date: 2020-08-23T00:00:00Z [Term] id: DOID:6786 name: childhood botryoid rhabdomyosarcoma def: "A botryoid rhabdomyosarcoma that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8088765 "DO"] synonym: "childhood sarcoma botryoides" EXACT [] xref: ICD-O:M8910/3 xref: NCI:C35574 is_a: DOID:3255 ! botryoid rhabdomyosarcoma [Term] id: DOID:6787 name: childhood vagina botryoid rhabdomyosarcoma def: "A vagina botryoid rhabdomyosarcoma that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27870705 "DO"] synonym: "vaginal childhood sarcoma Botryoides" EXACT [] xref: NCI:C35556 is_a: DOID:6788 ! vagina botryoid rhabdomyosarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6788 name: vagina botryoid rhabdomyosarcoma def: "A botryoid rhabdomyosarcoma that is located_in the vagina. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15887839 "DO"] xref: NCI:C40268 is_a: DOID:1901 ! vagina sarcoma is_a: DOID:3255 ! botryoid rhabdomyosarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6789 name: vulvar childhood botryoid-type embryonal rhabdomyosarcoma synonym: "childhood sarcoma Botryoides of the Vulva" EXACT [] xref: NCI:C36098 is_a: DOID:2096 ! vulvar sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:679 name: basal ganglia disease def: "A brain disease that is characterized by dysfunctional movement, located_in basal ganglia that has_material_basis_in diseased components of the basal ganglia and associated neural circuits. (DO)" [https://en.wikipedia.org/wiki/Basal_ganglia_disease "DO"] synonym: "basal ganglia diseases" EXACT [] synonym: "Basal Ganglia Disorder" EXACT [] synonym: "basal ganglia disorders" EXACT [] synonym: "Extrapyramidal Disorder" EXACT [] synonym: "Extrapyramidal Disorders" EXACT [] synonym: "Lenticulostriate Disorder" EXACT [] synonym: "lenticulostriate disorders" EXACT [] xref: EFO:0009533 xref: MESH:D001480 is_a: DOID:936 ! brain disease [Term] id: DOID:680 name: tauopathy def: "A neurodegenerative disease that has_material_basis_in the pathological aggregation of tau protein in so-called neurofibrillary tangles (NFT) in the human brain. (DO)" [http://en.wikipedia.org/wiki/Tauopathy "DO"] synonym: "tauopathies" EXACT [] xref: EFO:0005815 xref: MESH:D024801 is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:6804 name: colon Kaposi sarcoma def: "A sarcoma of colon that is located_in the colon. (DO)" [http://www.cancer.org/docroot/cri/content/cri_2_4_3x_how_is_kaposis_sarcoma_diagnosed_21.asp "DO"] synonym: "Colonic Kaposi's sarcoma" EXACT [] xref: NCI:C5516 xref: RDO:9002030 is_a: DOID:5260 ! colon sarcoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:681 name: progressive bulbar palsy def: "A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)" [MESH:D010244] synonym: "bulbar palsies" EXACT [] synonym: "Bulbar Palsy" EXACT [] synonym: "bulbar paralyses" EXACT [] synonym: "Bulbar Paralysis" EXACT [] synonym: "progressive bulbar palsies" EXACT [] xref: EFO:0003783 xref: GARD:10928 xref: ICD10CM:G12.22 xref: ICD9CM:335.22 xref: MESH:D010244 xref: MONDO:0008890 xref: NCI:C85026 is_a: DOID:231 ! motor neuron disease [Term] id: DOID:6811 name: juvenile pilocytic astrocytoma def: "A pilocytic astrocytoma that occurs during adolescence. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27081 "DO"] synonym: "juvenile pilocytic astrocytomas" EXACT [] xref: NCI:C27081 is_a: DOID:4851 ! pilocytic astrocytoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6812 name: childhood pilocytic astrocytoma def: "A pilocytic astrocytoma that occurs during childhood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4048 "DO"] synonym: "pediatric pilocytic astrocytoma" EXACT [] xref: ICD-O:M9421/1 xref: NCI:C4048 is_a: DOID:4851 ! pilocytic astrocytoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:682 name: compartment syndrome def: "Conditions in which increased pressure within a limited space compromises the BLOOD CIRCULATION and function of tissue within that space. Some of the causes of increased pressure are TRAUMA, tight dressings, HEMORRHAGE, and exercise. Sequelae include nerve compression (NERVE COMPRESSION SYNDROMES); PARALYSIS; and ISCHEMIC CONTRACTURE." [MESH:D003161] synonym: "compartmental syndrome" EXACT [] synonym: "compartment syndromes" EXACT [] xref: GARD:6141 xref: ICD10CM:T79.A0 xref: ICD9CM:958.90 xref: MESH:D003161 xref: NCI:C118422 is_a: DOID:0080000 ! muscular disease is_a: DOID:178 ! vascular disease is_a: DOID:225 ! syndrome is_a: DOID:326 ! ischemia [Term] id: DOID:6823 name: pancreatoblastoma xref: EFO:1000446 xref: GARD:4210 xref: ICDO:8971/3 xref: MESH:C537162 xref: NCI:C4265 is_a: DOID:4905 ! pancreatic carcinoma [Term] id: DOID:6827 name: pancreatic solid pseudopapillary carcinoma def: "A pancreatic carcinoma that is characterized by its papillary architecture. (DO)" [http://en.wikipedia.org/wiki/Solid_pseudopapillary_tumour "DO", https://www.ncbi.nlm.nih.gov/pubmed/19268906 "DO"] xref: NCI:C5728 is_a: DOID:4905 ! pancreatic carcinoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:683 name: motor neuritis synonym: "motor neuritides" EXACT [] synonym: "peripheral motor neuropathy" EXACT [] xref: NCI:C3500 is_a: DOID:1803 ! neuritis is_a: DOID:231 ! motor neuron disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:6837 name: rete ovarii adenoma def: "A rete ovarii benign neoplasm that derives_from glandular epithelial cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/9416702 "DO"] xref: NCI:C40018 is_a: DOID:4895 ! rete ovarii benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6838 name: rete ovarii cystadenofibroma def: "A rete ovarii benign neoplasm that is derives_from epithelial and stromal cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/21139896 "DO"] xref: NCI:C40020 is_a: DOID:4895 ! rete ovarii benign neoplasm is_a: DOID:5482 ! cystadenofibroma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:6839 name: breast intraductal proliferative lesion def: "An intraductal breast benign neoplasm that is characterized by an increase in the number of cells perpendicular to the basement membrane resulting in total alteration and distension of the normal unit structure of the breast. It is confined to the duct-lobular system, originates from the terminal duct-lobular unit and displays different cytological and architectural patterns of proliferation. (DO)" [https://www.hindawi.com/journals/ijso/2012/501904/ "DO"] synonym: "intraductal proliferative lesion" EXACT [] xref: NCI:C27942 is_a: DOID:3013 ! intraductal breast benign neoplasm [Term] id: DOID:684 name: hepatocellular carcinoma alt_id: MIM:114550 def: "A liver carcinoma that has_material_basis_in undifferentiated hepatocytes and located_in the liver. (DO)" [http://cancergenome.nih.gov/cancersselected/LiverHepatocellularCarcinoma "DO", http://en.wikipedia.org/wiki/Hepatocellular_carcinoma "DO", http://www.omim.org/entry/114550 "DO"] synonym: "adult liver cancer" EXACT [] synonym: "adult liver cancers" EXACT [] synonym: "Childhood Hepatocellular Carcinoma" EXACT [] synonym: "EFO:0000182" EXACT [] synonym: "HCC" EXACT [] synonym: "hepatitis B virus induced hepatocellular carcinoma" NARROW [] synonym: "hepatitis C virus induced hepatocellular carcinoma" NARROW [] synonym: "hepatitis virus-related hepatocellular carcinoma" NARROW [] synonym: "HEPATOBLASTOMA" NARROW [] synonym: "HEPATOBLASTOMA CAUSED BY SOMATIC MUTATION" NARROW [] synonym: "Hepatocellular Cancer" EXACT [] synonym: "hepatocellular cancers" EXACT [] synonym: "Hepatocellular Carcinoma, Childhood Type, Somatic" EXACT [] synonym: "hepatocellular carcinomas" EXACT [] synonym: "hepatoma" EXACT [] synonym: "hepatomas" EXACT [] synonym: "LCC" EXACT [] synonym: "liver cell carcinoma" EXACT [] synonym: "liver cell carcinomas" EXACT [] xref: EFO:0000182 xref: EFO:0000189 xref: EFO:0008503 xref: EFO:0008504 xref: EFO:0008505 xref: ICDO:8170/3 xref: ICD-O:M8170/3 xref: MESH:D006528 xref: NCI:C129298 xref: NCI:C24029 xref: NCI:C3099 xref: NCI:C38756 xref: NCI:C60416 xref: ORDO:88673 is_a: DOID:299 ! adenocarcinoma is_a: DOID:686 ! liver carcinoma [Term] id: DOID:6841 name: flat ductal epithelial atypia def: "A breast intraductal proliferative lesion that is characterized by columnar cell changes with cytologic atypia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4424157/ "DO"] xref: NCI:C36086 is_a: DOID:6839 ! breast intraductal proliferative lesion [Term] id: DOID:6844 name: kidney pelvis sarcomatoid transitional cell carcinoma synonym: "sarcomatoid transitional cell carcinoma of renal pelvis" EXACT [] xref: NCI:C6186 is_a: DOID:0050620 ! infiltrating renal pelvis transitional cell carcinoma is_a: DOID:4014 ! sarcomatoid transitional cell carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:6845 name: infiltrating ureter transitional cell carcinoma xref: NCI:C39879 xref: RDO:9002113 is_a: DOID:6888 ! ureter transitional cell carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:6846 name: familial melanoma alt_id: DOID:9000881 alt_id: MIM:608035 alt_id: MIM:609048 alt_id: MIM:612263 alt_id: MIM:613099 alt_id: MIM:613972 alt_id: MIM:614456 alt_id: MIM:615134 alt_id: MIM:615848 synonym: "CMM" EXACT [] synonym: "CMM1" NARROW [] synonym: "CMM10" NARROW [] synonym: "CMM2" NARROW [] synonym: "CMM3" NARROW [] synonym: "CMM4" NARROW [] synonym: "CMM5" NARROW [] synonym: "CMM6" NARROW [] synonym: "CMM7" NARROW [] synonym: "CMM8" NARROW [] synonym: "CMM9" NARROW [] synonym: "cutaneous malignant melanoma 10" NARROW [] synonym: "cutaneous malignant melanoma 5" NARROW [] synonym: "cutaneous malignant melanoma 6" NARROW [] synonym: "cutaneous malignant melanoma 9" NARROW [] synonym: "cutaneous malignant melanoma, dominant" NARROW [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 1" RELATED [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 10" RELATED [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 2" RELATED [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 3" RELATED [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 4" RELATED [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 5" RELATED [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 6" RELATED [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 7" RELATED [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 8" RELATED [] synonym: "Cutaneous Malignant Melanoma, Susceptibility To, 9" RELATED [] synonym: "DNS" EXACT [] synonym: "hereditary cutaneous melanoma" EXACT [] synonym: "hereditary dysplastic nevus syndrome" EXACT [] synonym: "melanoma and renal cell carcinoma, susceptibility to" RELATED [] synonym: "MLM" EXACT [] synonym: "TYR-RELATED CONDITION" BROAD [] xref: MIM:155600 xref: MIM:155601 xref: MIM:PS155600 xref: NCI:C8498 is_a: DOID:1909 ! melanoma is_a: DOID:8923 ! skin melanoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:6847 name: adult botryoid rhabdomyosarcoma def: "A botryoid rhabdomyosarcoma that is present in an adult. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/17955586 "DO"] xref: NCI:C36099 is_a: DOID:3255 ! botryoid rhabdomyosarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6848 name: adult vagina botryoid rhabdomyosarcoma def: "A vagina botryoid rhabdomyosarcoma that presents in adulthood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2190875 "DO"] xref: NCI:C40267 is_a: DOID:6788 ! vagina botryoid rhabdomyosarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6854 name: ethmoid sinus ectopic meningioma synonym: "primary ectopic meningioma of ethmoidal sinus" EXACT [] xref: NCI:C5309 is_a: DOID:1364 ! ethmoidal sinus benign neoplasm is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6856 name: pineal region teratoma alt_id: MIM:273120 synonym: "pineal teratoma" EXACT [] synonym: "teratoma of pineal area" EXACT [] xref: MESH:C537401 xref: NCI:C6753 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm is_a: DOID:3307 ! teratoma [Term] id: DOID:6857 name: pineal region mature teratoma def: "A mature teratoma that is located_in the pineal region. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28236067 "DO"] synonym: "mature teratoma of the pineal area" EXACT [] xref: NCI:C6754 is_a: DOID:5566 ! mature teratoma is_a: DOID:6856 ! pineal region teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:6858 name: pineal region immature teratoma synonym: "atypical pineal teratoma" EXACT [] xref: NCI:C6755 is_a: DOID:6856 ! pineal region teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:686 name: liver carcinoma def: "A liver cancer that has_material_basis_in epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO", http://en.wikipedia.org/wiki/Liver_cancer "DO"] synonym: "Calcifying Nested Epithelial Stromal Tumor of the Liver" NARROW [] synonym: "EFO:0000182" EXACT [] synonym: "liver and intrahepatic bile duct carcinoma" BROAD [] xref: EFO:0000182 xref: EFO:0000188 xref: EFO:1000149 xref: NCI:C7927 is_a: DOID:305 ! carcinoma is_a: DOID:3571 ! liver cancer created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:6865 name: oxyphilic endometrial endometrioid adenocarcinoma def: "An endometrial adenocarcinoma that is composed predominantly or entirely of large eosinophilic cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/7814190/ "DO", https://www.researchgate.net/publication/15385398_Endometrioid_Carcinoma_of_the_Ovary_and_Endometrium_Oxyphilic_Cell_Type "DO"] xref: NCI:C27849 xref: RDO:9002083 is_a: DOID:2870 ! endometrial adenocarcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:6867 name: mediastinal gray zone lymphoma xref: NCI:C37870 xref: RDO:9004797 is_a: DOID:5822 ! gray zone lymphoma is_a: DOID:6868 ! mediastinal malignant lymphoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6868 name: mediastinal malignant lymphoma synonym: "Lymphoma of mediastinum" EXACT [NCI2004_11_17:C6633] xref: NCI:C6633 xref: RDO:9004798 is_a: DOID:0060058 ! lymphoma is_a: DOID:5559 ! mediastinal cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6869 name: parasagittal meningioma xref: NCI:C4960 xref: RDO:9004710 is_a: DOID:6114 ! cerebral convexity meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:687 name: hepatoblastoma def: "A malignant neoplasm occurring in young children, primarily in the liver, composed of tissue resembling embryonal or fetal hepatic epithelium, or mixed epithelial and mesenchymal tissues. (Stedman, 25th ed)" [MESH:D018197] synonym: "EFO:1000292" EXACT [] synonym: "embryonal hepatoblastoma" NARROW [] synonym: "HBL" EXACT [] synonym: "hepatoblastomas" EXACT [] xref: EFO:1000292 xref: GARD:2657 xref: ICD10CM:C22.2 xref: ICDO:8970/3 xref: MESH:D018197 xref: NCI:C3728 is_a: DOID:3571 ! liver cancer is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:6871 name: spinal cord neuroblastoma synonym: "neuroblastoma of the spinal cord" EXACT [] xref: NCI:C5155 is_a: DOID:6872 ! spinal cord primitive neuroectodermal neoplasm is_a: DOID:769 ! neuroblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:6872 name: spinal cord primitive neuroectodermal neoplasm synonym: "EFO:1000545" EXACT [] synonym: "spinal cord PNET" EXACT [] xref: EFO:1000545 xref: NCI:C5406 is_a: DOID:0060103 ! central nervous system embryonal tumor is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:6873 name: skin tag def: "A reactive cutaneous fibrous lesion that is characterized by a small, painless, flesh colored peduncle arising on the surface of the skin, and develops_from areas of friction, or may be associated with HPV virus, or Crohn's disease. (DO)" [https://en.wikipedia.org/wiki/Skin_tag "DO"] synonym: "cutaneous tag" EXACT [] synonym: "fibroepithelial polyp" EXACT [] synonym: "fibroepithelial polyp of skin" EXACT [] synonym: "soft fibroma" EXACT [] xref: NCI:C3337 xref: NCI:C3374 is_a: DOID:2053 ! reactive cutaneous fibrous lesion created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:688 name: embryonal cancer def: "A germ cell cancer that is associated with an embryo. (DO)" [http://www.cancer.gov/dictionary/?CdrID=44250 "DO"] synonym: "EFO:0005784" EXACT [] xref: EFO:0005784 xref: NCI:C3264 is_a: DOID:2994 ! germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6880 name: small bowel fibrosarcoma def: "A fibrosarcoma of soft tissue and small intestinal sarcoma that is located_in the small bowel. (DO)" [http://en.wikipedia.org/wiki/Fibrosarcoma "DO"] synonym: "Fibrosarcoma, small Intestine" EXACT [NCI2004_11_17:C5336] xref: NCI:C5336 xref: RDO:9004195 is_a: DOID:3355 ! fibrosarcoma is_a: DOID:5272 ! small intestinal sarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:6886 name: ureter small cell carcinoma synonym: "EFO:1000610" EXACT [] synonym: "ureteral small cell carcinoma" EXACT [] xref: EFO:1000610 xref: NCI:C6176 xref: RDO:9003836 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:4939 ! ureter carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6888 name: ureter transitional cell carcinoma synonym: "EFO:1001973" EXACT [] synonym: "transitional cell carcinoma of ureter" EXACT [] synonym: "ureteral urothelial cell carcinoma" EXACT [] xref: EFO:1001973 xref: NCI:C4830 xref: RDO:9002112 is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:4939 ! ureter carcinoma is_a: DOID:9000614 ! upper tract urothelial carcinoma created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:6898 name: ovarian seromucinous carcinoma alt_id: DOID:6899 def: "An ovarian carcinoma that is biphasic and has_material_basis_in epithelial and mesenchymal elements. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24643255 "DO"] synonym: "malignant ovarian mixed epithelial neoplasm" EXACT [] synonym: "mixed epithelial carcinoma of ovary" EXACT [] synonym: "ovary mixed epithelial carcinoma" EXACT [] xref: EFO:1000358 xref: NCI:C40090 is_a: DOID:4001 ! ovarian carcinoma is_a: DOID:6211 ! mixed epithelial tumor of ovary [Term] id: DOID:6901 name: familiar ovarian carcinoma synonym: "familial ovarian carcinoma" EXACT [] xref: NCI:C36102 xref: RDO:9001900 is_a: DOID:4001 ! ovarian carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:6903 name: eye lymphoma def: "A lymphoma by site that is manifested in immune system cells called lymphocytes. (DO)" [http://www.cancer.org/docroot/cri/content/cri_2_4_1x_what_is_eye_cancer_74.asp "DO"] synonym: "malignant lymphoma of eye" EXACT [] xref: NCI:C35690 is_a: DOID:0060058 ! lymphoma is_a: DOID:2174 ! ocular cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6906 name: glomangiomatosis def: "A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28656356 "DO"] xref: ICDO:8711/1 xref: NCI:C27496 is_a: DOID:5238 ! benign perivascular tumor [Term] id: DOID:6917 name: predominantly cortical thymoma synonym: "EFO:1000584" EXACT [] synonym: "Lymphocyte-Predominant Thymoma" EXACT [] synonym: "Thymoma, organoid" EXACT [] synonym: "Thymoma Type B1" EXACT [] xref: EFO:1000584 xref: NCI:C6887 is_a: DOID:3282 ! thymoma type B created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:6925 name: peroneal nerve paralysis def: "Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)" [MESH:D020427] synonym: "common peroneal neuropathies" EXACT [] synonym: "Common Peroneal Neuropathy" EXACT [] synonym: "Deep Peroneal Neuropathies" EXACT [] synonym: "Deep Peroneal Neuropathy" EXACT [] synonym: "External Popliteal Neuropathies" EXACT [] synonym: "External Popliteal Neuropathy" EXACT [] synonym: "Fibular Nerve Disease" EXACT [] synonym: "Fibular Nerve Diseases" EXACT [] synonym: "Fibular Neuropathies" EXACT [] synonym: "Fibular Neuropathy" EXACT [] synonym: "Lateral Popliteal Neuropathies" EXACT [] synonym: "Lateral Popliteal Neuropathy" EXACT [] synonym: "Peroneal Nerve Disease" EXACT [] synonym: "Peroneal Nerve Diseases" EXACT [] synonym: "Peroneal nerve palsy" EXACT [] synonym: "Peroneal Nerve Paralyses" EXACT [] synonym: "Peroneal Neuropathies" EXACT [] synonym: "Peroneal Neuropathy" EXACT [] synonym: "Superficial Peroneal Neuropathies" EXACT [] synonym: "superficial peroneal neuropathy" EXACT [] xref: EFO:1001102 xref: MESH:D020427 xref: NCI:C27061 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:6929 name: retinal edema synonym: "retinal edemas" EXACT [] is_a: DOID:1210 ! optic neuritis is_a: DOID:5679 ! retinal disease [Term] id: DOID:693 name: dental enamel hypoplasia def: "An acquired or hereditary condition due to deficiency in the formation of tooth enamel (AMELOGENESIS). It is usually characterized by defective, thin, or malformed DENTAL ENAMEL. Risk factors for enamel hypoplasia include gene mutations, nutritional deficiencies, diseases, and environmental factors." [MESH:D003744] synonym: "enamel ageneses" EXACT [] synonym: "Enamel Agenesis" EXACT [] synonym: "Enamel Hypoplasia" EXACT [] synonym: "Enamel Hypoplasias" EXACT [] synonym: "Hypoplastic Enamel" EXACT [] synonym: "molar incisor hypomineralization" EXACT [] xref: EFO:0005321 xref: EFO:1001304 xref: MESH:D003744 xref: NCI:C34529 is_a: DOID:214 ! teeth hard tissue disease is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:6931 name: papillary extrahepatic bile duct adenocarcinoma is_a: DOID:3112 ! papillary adenocarcinoma is_a: DOID:3495 ! extrahepatic bile duct adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:6932 name: urinary bladder inverted papilloma xref: NCI:C39859 is_a: DOID:0050623 ! bladder benign neoplasm is_a: DOID:6933 ! bladder transitional cell papilloma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:6933 name: bladder transitional cell papilloma synonym: "bladder papilloma" EXACT [] synonym: "transitional cell papilloma of bladder" EXACT [] synonym: "urinary bladder urothelial papilloma" EXACT [] synonym: "urothelial papilloma" EXACT [] xref: NCI:C3842 xref: NCI:C39858 is_a: DOID:5432 ! bladder papillary transitional cell neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6934 name: urethra inverted papilloma synonym: "inverted papilloma of the urethra" EXACT [] xref: NCI:C6173 is_a: DOID:2140 ! urethral urothelial papilloma is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:6935 name: ureter inverted papilloma synonym: "ureteral inverted papilloma" EXACT [] xref: NCI:C6174 is_a: DOID:5433 ! urinary tract papillary transitional cell benign neoplasm is_a: DOID:6936 ! ureter urothelial papilloma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6936 name: ureter urothelial papilloma xref: NCI:C6160 is_a: DOID:11885 ! ureteral benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6938 name: childhood intraocular retinoblastoma def: "An intraocular retinoblastoma that effects children. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29737052 "DO"] synonym: "pediatric intraocular retinoblastoma" EXACT [] xref: NCI:C9047 is_a: DOID:4653 ! intraocular retinoblastoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:6939 name: childhood brain meningioma def: "A brain meningioma of childhood that is characterized by brain tumor which develops from the membranes that surround the brain and spinal cord, has_material_basis_in abnormally proliferating cells derives_from meningeal cells of embryonic ectoderm origin. (DO)" [https://en.wikipedia.org/wiki/Meningioma "DO", https://www.ncbi.nlm.nih.gov/pubmed/15886506 "DO"] synonym: "pediatric meningioma of brain" EXACT [] xref: NCI:C6253 xref: RDO:9003546 is_a: DOID:0060106 ! brain meningioma is_a: DOID:4593 ! childhood meningioma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6943 name: vulvar inverted follicular keratosis def: "An inverted follicular keratosis that is located_in the vulva. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11109167 "DO"] xref: EFO:1000778 xref: NCI:C40291 xref: RDO:9003564 is_a: DOID:6944 ! vulvar seborrheic keratosis is_a: DOID:6945 ! inverted follicular keratosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6944 name: vulvar seborrheic keratosis synonym: "seborrheic keratosis of vulva" EXACT [] xref: EFO:1000779 xref: NCI:C6375 is_a: DOID:0060109 ! vulvar benign neoplasm is_a: DOID:6498 ! seborrheic keratosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6945 name: inverted follicular keratosis synonym: "inverted folicular keratosis" EXACT [] xref: EFO:1000717 xref: NCI:C9007 is_a: DOID:6498 ! seborrheic keratosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:6947 name: sphenoidal sinus benign neoplasm synonym: "neoplasm of sphenoidal sinus" EXACT [] synonym: "tumor of sphenoidal sinus" EXACT [] xref: NCI:C6792 is_a: DOID:1350 ! paranasal sinus benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:6948 name: malignant gastric teratoma def: "A malignant teratoma that has_material_basis_in gastric tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2067992 "DO"] synonym: "malignant teratoma of stomach" EXACT [] xref: NCI:C5256 xref: RDO:9001925 is_a: DOID:4716 ! malignant gastric germ cell tumor is_a: DOID:5561 ! gastric teratoma is_a: DOID:5563 ! malignant teratoma created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:6950 name: combat disorder def: "An acute stress disorder that involves neurotic reactions to unusual, severe, or overwhelming military stress. (DO)" [http://neurolex.org/wiki/Category\:Combat_Disorder "DO"] synonym: "combat disorders" EXACT [] synonym: "combat neuroses" EXACT [] synonym: "Combat Neurosis" EXACT [] synonym: "Combat Stress Disorder" EXACT [] synonym: "Combat Stress Disorders" EXACT [] synonym: "Shell Shock" EXACT [] synonym: "Shell Shocks" EXACT [] synonym: "War Neuroses" EXACT [] synonym: "war neurosis" EXACT [] xref: MESH:D003130 is_a: DOID:6088 ! acute stress disorder [Term] id: DOID:6951 name: telangiectatic osteogenic sarcoma synonym: "telangiectatic osteosarcoma" EXACT [] xref: NCI:C3902 is_a: DOID:7602 ! conventional osteosarcoma [Term] id: DOID:6958 name: aleukemic monocytic leukemia cutis def: "An aleukemic leukemia cutis that is characterized by infiltration of the skin by neoplastic monocytes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C5630 "DO"] xref: NCI:C5630 is_a: DOID:6003 ! aleukemic leukemia cutis created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6959 name: rectal cloacogenic carcinoma synonym: "transitional zone carcinoma of rectum" EXACT [] xref: NCI:C5555 is_a: DOID:5528 ! rectum squamous cell carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:6961 name: Bartholin's gland squamous cell carcinoma def: "A Bartholin's gland carcinoma that derives_from squamous epithelial cells. (DO)" [https://en.wikipedia.org/wiki/Bartholin_gland_carcinoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/22369423 "DO"] synonym: "Bartholin gland squamous cell carcinoma" EXACT [] synonym: "EFO:1000104" EXACT [] xref: EFO:1000104 xref: NCI:C40293 is_a: DOID:2101 ! vulva squamous cell carcinoma is_a: DOID:3999 ! Bartholin's gland carcinoma created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:6969 name: acute canaliculitis def: "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal caniculi, has_symptom epiphora, has_symptom conjunctivitis, has_symptom eyelid mattering and has_symptom purulent discharge. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16845316 "DO"] synonym: "acute lacrimal canaliculitis" EXACT [] xref: ICD10CM:H04.33 xref: ICD9CM:375.31 is_a: DOID:6970 ! acute inflammation of lacrimal passage is_a: DOID:9003523 ! Canaliculitis created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6970 name: acute inflammation of lacrimal passage xref: ICD10CM:H04.3 xref: ICD9CM:375.3 is_a: DOID:1400 ! lacrimal apparatus disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:6975 name: bladder urothelial papillary carcinoma synonym: "urothelial papillary carcinoma of the bladder" EXACT [] xref: NCI:C7383 is_a: DOID:3113 ! papillary carcinoma is_a: DOID:4006 ! bladder urothelial carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:6976 name: micropapillary variant infiltrating bladder urothelial carcinoma synonym: "EFO:0008512" EXACT [] xref: EFO:0008512 xref: NCI:C27202 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:6977 name: pancreatic cholera synonym: "excessive vasoactive intestinal peptide secretion" EXACT [] synonym: "pancreatic WDHA syndrome" EXACT [] synonym: "Verner-Morrison syndrome" EXACT [] xref: NCI:C3488 is_a: DOID:1428 ! endocrine pancreas disease is_a: DOID:5574 ! vipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:698 name: dentin sensitivity alt_id: RDO:0005340 def: "Pain associated with exposed DENTIN surfaces of the teeth." [MESH:D003807] synonym: "Dentine Hypersensitivities" EXACT [] synonym: "Dentine Hypersensitivity" EXACT [] synonym: "Dentine Sensitivities" EXACT [] synonym: "Dentine Sensitivity" EXACT [] synonym: "Dentin Hypersensitivities" EXACT [] synonym: "Dentin Hypersensitivity" EXACT [] synonym: "Dentin Sensitivities" EXACT [] synonym: "sensitive dentin" EXACT [] synonym: "Tooth Sensitivities" EXACT [] synonym: "Tooth Sensitivity" EXACT [] xref: MESH:D003807 xref: NCI:C50778 is_a: DOID:1091 ! tooth disease is_a: DOID:214 ! teeth hard tissue disease [Term] id: DOID:6988 name: peripheral epithelioid sarcoma xref: NCI:C27473 is_a: DOID:6193 ! epithelioid sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:699 name: mitochondrial myopathy alt_id: MIM:251900 def: "A myopathy that is characterized by mitochondrial dysfunction. (DO)" [http://en.wikipedia.org/wiki/Mitochondrial_myopathies "DO", http://www.ninds.nih.gov/disorders/mitochondrial_myopathy/mitochondrial_myopathy.htm "DO"] synonym: "Luft's Disease" EXACT [] synonym: "Luft disease" EXACT [] synonym: "Lufts Disease" EXACT [] synonym: "megaconial myopathies" EXACT [] synonym: "Megaconial Myopathy" EXACT [] synonym: "Mitochondrial Myopathies" EXACT [] synonym: "MITOCHONDRIAL MYOPATHY, ISOLATED" NARROW [] synonym: "MYOPATHY, MITOCHONDRIAL, LATE-ONSET" NARROW [] synonym: "MYOTONIC DYSTROPHY-LIKE MYOPATHY" NARROW [] synonym: "Pleoconial Myopathies" EXACT [] synonym: "pleoconial myopathy" EXACT [] synonym: "skeletal myopathy, responsive to riboflavin" NARROW [] xref: MESH:D017240 xref: NCI:C101328 is_a: DOID:423 ! myopathy is_a: DOID:9003594 ! Mitochondrial Cytopathy [Term] id: DOID:6992 name: intraocular mixed cell type melanoma synonym: "mixed cell type Uveal melanoma" EXACT [] xref: NCI:C7989 xref: RDO:9001856 is_a: DOID:1752 ! ocular melanoma [Term] id: DOID:6993 name: iris mixed cell melanoma xref: NCI:C6101 is_a: DOID:6992 ! intraocular mixed cell type melanoma is_a: DOID:6994 ! malignant iris melanoma [Term] id: DOID:6994 name: malignant iris melanoma synonym: "malignant melanoma of iris" EXACT [] synonym: "melanoma of the iris" EXACT [] xref: NCI:C9088 is_a: DOID:3478 ! iris cancer [Term] id: DOID:6996 name: intermediate cell type choroid melanoma synonym: "mixed cell melanoma of Choroid" EXACT [] xref: NCI:C6100 is_a: DOID:6438 ! malignant choroid melanoma is_a: DOID:6992 ! intraocular mixed cell type melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:6997 name: intermediate cell type ciliary body melanoma xref: NCI:C6118 is_a: DOID:6524 ! malignant ciliary body melanoma is_a: DOID:6992 ! intraocular mixed cell type melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:6998 name: gallbladder mucinous carcinoma synonym: "Colloidal carcinoma of the gallbladder" EXACT [NCI2004_11_17:C5744] xref: NCI:C5744 is_a: DOID:3500 ! gallbladder adenocarcinoma [Term] id: DOID:7 name: disease of anatomical entity alt_id: DOID:1 alt_id: DOID:2 alt_id: DOID:5 alt_id: DOID:71 alt_id: DOID:72 alt_id: DOID:8 def: "A disease that manifests in a defined anatomical structure. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=anatomic "DO"] synonym: "head and neck disorder" NARROW [] synonym: "perineum disease" NARROW [] xref: EFO:0000524 xref: EFO:0010689 is_a: DOID:4 ! disease [Term] id: DOID:700 name: mitochondrial metabolism disease def: "An inherited metabolic disorder that involves mitochondrial metabolism dysfunction. (DO)" [http://en.wikipedia.org/wiki/Mitochondrial_disease "DO"] synonym: "ABNORMALITY OF THE MITOCHONDRION" BROAD [] synonym: "EXERCISE INTOLERANCE AND COMPLEX III DEFICIENCY, SOMATIC" NARROW [] synonym: "Mitochondrial Disease" EXACT [] synonym: "mitochondrial diseases" EXACT [] synonym: "Mitochondrial Disorder" EXACT [] synonym: "MITOCHONDRIAL DISORDER DUE TO A DEFECT IN ASSEMBLY OR MATURATION OF THE RESPIRATORY CHAIN COMPLEXES" NARROW [] synonym: "Mitochondrial Disorders" EXACT [] synonym: "Mitochondrial Electron Transport Chain Deficiencies" EXACT [] synonym: "Mitochondrial Respiratory Chain Deficiencies" EXACT [] synonym: "Oxidative Phosphorylation Deficiencies" EXACT [] synonym: "Oxidative Phosphorylation Deficiency" EXACT [] synonym: "respiratory chain deficiencies" EXACT [] synonym: "respiratory chain deficiency" EXACT [] xref: EFO:0000591 xref: GARD:7048 xref: MESH:D028361 xref: MONDO:0004069 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:7004 name: ACTH-secreting pituitary adenoma alt_id: MIM:219090 def: "A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. (DO)" [http://en.wikipedia.org/wiki/Cushing%27s_syndrome "DO"] synonym: "ACTH Producing Pituitary Adenoma" EXACT [] synonym: "ACTH-producing pituitary adenomas" EXACT [] synonym: "ACTH-Secreting Pituitary Adenomas" EXACT [] synonym: "Corticotroph Adenoma" EXACT [] synonym: "Corticotroph Adenomas" EXACT [] synonym: "corticotropinoma" EXACT [] synonym: "CUSHING DISEASE, PITUITARY" EXACT [] synonym: "PITA4" EXACT [] synonym: "PITUITARY ADENOMA 4, ACTH-SECRETING" EXACT [] synonym: "PITUITARY ADENOMA, ACTH-SECRETING, SOMATIC" EXACT [] synonym: "Pituitary Corticotropin Secreting Adenoma" EXACT [] synonym: "pituitary corticotropin-secreting adenomas" EXACT [] xref: EFO:1000066 xref: GARD:12867 xref: MESH:D049913 xref: NCI:C7462 is_a: DOID:5395 ! functioning pituitary adenoma [Term] id: DOID:7005 name: gemistocytic astrocytoma synonym: "gemistocytic astrocytic tumor" EXACT [] synonym: "gemistocytic astrocytomas" EXACT [] xref: ICDO:9411/3 xref: NCI:C4321 is_a: DOID:3069 ! malignant astrocytoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7007 name: childhood cerebral astrocytoma synonym: "pediatric astrocytoma of cerebrum" EXACT [] xref: NCI:C4347 is_a: DOID:0060108 ! brain glioma is_a: DOID:3079 ! childhood astrocytic tumor is_a: DOID:368 ! cerebrum cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7008 name: protoplasmic astrocytoma synonym: "protoplasmic astrocytic tumor" EXACT [] synonym: "protoplasmic astrocytomas" EXACT [] xref: ICDO:9410/3 xref: NCI:C4320 is_a: DOID:3069 ! malignant astrocytoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:701 name: dentin dysplasia def: "A teeth hard tissue disease characterized by presence of normal enamel but atypical dentin with abnormal pulpal morphology. (DO)" [http://en.wikipedia.org/wiki/Dentin_dysplasia "DO"] synonym: "anomalous dysplasia of dentin" EXACT [] synonym: "dentinal dysplasia" EXACT [] synonym: "dentin dysplasias" EXACT [] xref: MESH:D003805 xref: ORDO:1635 is_a: DOID:214 ! teeth hard tissue disease is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:7013 name: ovarian mucinous cystadenofibroma def: "An ovarian mucinous adenofibroma that is characterized by the presence of cysts or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24772358 "DO"] xref: NCI:C40041 is_a: DOID:6469 ! ovarian mucinous adenofibroma [Term] id: DOID:7014 name: infiltrating lipoma synonym: "intramuscular lipoma" EXACT [] xref: NCI:C7450 xref: NCI:C7451 is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7016 name: tendon sheath lipoma def: "A synovium neoplasm that is located_in the tendon sheath. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26665243 "DO"] synonym: "lipoma of the tendon sheath" EXACT [] xref: NCI:C6499 xref: RDO:9004403 is_a: DOID:315 ! synovium neoplasm is_a: DOID:3315 ! lipoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7017 name: lumbosacral lipoma xref: NCI:C6500 is_a: DOID:0060094 ! bone benign neoplasm is_a: DOID:3315 ! lipoma [Term] id: DOID:7024 name: mucinous intrahepatic cholangiocarcinoma xref: NCI:C41618 xref: RDO:9002873 is_a: DOID:4928 ! intrahepatic cholangiocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7030 name: bronchial mucus gland adenoma synonym: "adenoma of bronchial mucus gland" EXACT [] synonym: "adenoma of the Bronchial Mucus gland" EXACT [] xref: NCI:C5664 xref: RDO:9002008 is_a: DOID:5391 ! bronchus adenoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:7031 name: glottis squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the glottis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24760498 "DO"] synonym: "epidermoid carcinoma of the glottis" EXACT [] synonym: "squamous cell carcinoma of glottis" EXACT [] xref: MONDO:0004080 xref: NCI:C8186 is_a: DOID:2599 ! glottis carcinoma is_a: DOID:9009187 ! Aerodigestive Tract Squamous Cell Carcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:7032 name: bile duct clear cell adenocarcinoma def: "A clear cell adenocarcinoma that is located_in the bile duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19144165 "DO"] synonym: "bile duct clear cell carcinoma" EXACT [NCI2004_11_17:C5775] xref: NCI:C5775 xref: RDO:9004431 is_a: DOID:4468 ! clear cell adenocarcinoma is_a: DOID:4896 ! bile duct adenocarcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7033 name: anisakiasis def: "A parasitic helminthiasis infectious disease that results_in infection located_in intestinal mucosa with larvae of the nematodes transmitted_by ingestion of raw or poorly cooked saltwater fish, has_material_basis_in Anisakis simplex or has_material_basis_in Pseudoterranova decipiens and has_symptom abdominal pain, has_symptom nausea and vomiting. Invasive anisakiasis results in the infection of omentum, pancreas, liver, and lung. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Anisakiasis.htm "DO", http://www.merck.com/mmpe/sec14/ch182/ch182c.html?qt=Anisakiasis&alt=sh "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC358121/pdf/cmr00053-0060.pdf "DO"] synonym: "Anisakiases" EXACT [] synonym: "infection by Anisakis larva" EXACT [] xref: EFO:0007146 xref: GARD:693 xref: ICD10CM:B81.0 xref: ICD9CM:127.1 xref: MESH:D017129 xref: NCI:C128393 is_a: DOID:9000395 ! Ascaridida Infections is_a: DOID:9002892 ! Parasitic Intestinal Diseases [Term] id: DOID:7037 name: childhood immature teratoma of ovary def: "An immature teratoma of overy that presents in childhood. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3983017 "DO"] synonym: "pediatric immature teratoma of ovary" EXACT [] xref: ICD-O:M9080/3 xref: NCI:C6547 xref: RDO:9005087 is_a: DOID:6331 ! immature teratoma of ovary created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:7039 name: Borst-Jadassohn intraepidermal carcinoma synonym: "Bowen's disease, clonal" EXACT [SNOMEDCT_2005_07_31:403886007] synonym: "Intraepidermal Epithelioma of Jadassohn" EXACT [NCI2004_11_17:C4110] xref: RDO:9004997 is_a: DOID:3451 ! skin carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:7040 name: uveal epithelioid cell melanoma synonym: "EFO:1000244" EXACT [] xref: EFO:1000244 xref: NCI:C35780 xref: RDO:9003803 is_a: DOID:4360 ! epithelioid cell melanoma is_a: DOID:6039 ! uveal melanoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7041 name: choroid epithelioid cell melanoma synonym: "choroidal epithelioid cell melanoma" EXACT [] xref: NCI:C6102 is_a: DOID:1752 ! ocular melanoma is_a: DOID:4360 ! epithelioid cell melanoma is_a: DOID:6039 ! uveal melanoma is_a: DOID:6438 ! malignant choroid melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:7042 name: ciliary body epithelioid cell melanoma xref: NCI:C6119 is_a: DOID:1752 ! ocular melanoma is_a: DOID:6524 ! malignant ciliary body melanoma is_a: DOID:7040 ! uveal epithelioid cell melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:7045 name: basaloid lung carcinoma xref: NCI:C7266 xref: RDO:9002964 is_a: DOID:3907 ! lung squamous cell carcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7046 name: cervical basaloid squamous cell carcinoma def: "A cervical squamous cell carcinoma that is characterized by nests of immature, basal-type squamous cells with scanty cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/30695899 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31393622 "DO"] xref: NCI:C40189 is_a: DOID:3744 ! cervical squamous cell carcinoma is_a: DOID:5522 ! basaloid squamous cell carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7047 name: penis basaloid carcinoma synonym: "squamous cell carcinoma of penis, Basaloid type" EXACT [] xref: NCI:C6980 xref: RDO:9002248 is_a: DOID:5518 ! penis squamous cell carcinoma is_a: DOID:5522 ! basaloid squamous cell carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:7048 name: vulvar basaloid squamous cell carcinoma def: "A vulva squamous cell carcinoma that is composed of nests of immature, basal-type squamous cells with scanty cytoplasm. (DO)" [https://www.hindawi.com/journals/jsc/2011/951250/ "DO"] synonym: "vulvar basaloid carcinoma" EXACT [] xref: NCI:C40286 is_a: DOID:2101 ! vulva squamous cell carcinoma is_a: DOID:5522 ! basaloid squamous cell carcinoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:7049 name: basaloid squamous cell skin carcinoma xref: NCI:C27543 is_a: DOID:3151 ! skin squamous cell carcinoma is_a: DOID:5522 ! basaloid squamous cell carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:705 name: Leber hereditary optic neuropathy alt_id: MIM:535000 def: "A maternally linked genetic disorder that presents in mid-life as acute or subacute central vision loss leading to central scotoma and blindness. The disease has been associated with missense mutations in the mtDNA, in genes for Complex I, III, and IV polypeptides, that can act autonomously or in association with each other to cause the disease. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim/, MIM#535000 (April 17, 2001))" [MESH:D029242] synonym: "hereditary optic neuroretinopathies" EXACT [] synonym: "hereditary optic neuroretinopathy" EXACT [] synonym: "Leber's Disease" EXACT [] synonym: "Leber's Diseases" EXACT [] synonym: "Leber's Hereditary Optic Atrophy" EXACT [] synonym: "Leber's Hereditary Optic Neuropathy" EXACT [] synonym: "Leber's Optic Atrophy" EXACT [] synonym: "Leber's optic neuropathy" EXACT [] synonym: "Leber disease" EXACT [] synonym: "Leber hereditary optic atrophy" EXACT [] synonym: "Leber Optic Atrophy" EXACT [] synonym: "Leber Optic Atrophy and Dystonia" EXACT [] synonym: "Leber Optic Neuropathy" EXACT [] synonym: "Lebers Disease" EXACT [] synonym: "Lebers optic neuropathy" EXACT [] synonym: "LHON" EXACT [] synonym: "optic atrophy, Leber type" EXACT [] xref: GARD:6870 xref: ICD10CM:H47.22 xref: MESH:D029242 xref: NCI:C84808 is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:7050 name: thymus basaloid carcinoma synonym: "basaloid carcinoma of the thymus" EXACT [] xref: NCI:C6456 is_a: DOID:5522 ! basaloid squamous cell carcinoma is_a: DOID:5530 ! thymus squamous cell carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:7051 name: esophageal basaloid squamous cell carcinoma synonym: "basaloid squamous carcinoma of esophagus" EXACT [] xref: NCI:C7032 is_a: DOID:3748 ! esophagus squamous cell carcinoma is_a: DOID:5522 ! basaloid squamous cell carcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7054 name: multiple skull base meningioma xref: MONDO:0004094 xref: NCI:C5279 is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:706 name: mature B-cell neoplasm synonym: "EFO:0000096" EXACT [] synonym: "mature B-cell lymphocytic neoplasm" EXACT [] xref: EFO:0000096 xref: NCI:C27910 is_a: DOID:707 ! B-cell lymphoma created_by: rgd creation_date: 2017-10-10T00:00:00Z [Term] id: DOID:707 name: B-cell lymphoma def: "A non-Hodgkin lymphoma that has_material_basis_in B cells. (DO)" [http://en.wikipedia.org/wiki/B-cell_lymphoma "DO"] synonym: "B-cell lymphocytic neoplasm" EXACT [] synonym: "B-cell lymphomas" EXACT [] synonym: "B-Cell Non-Hodgkin Lymphoma, Somatic" EXACT [] synonym: "B-cell non-Hodgkins lymphoma" EXACT [] xref: EFO:1001938 xref: GARD:5877 xref: MESH:D016393 xref: NCI:C27907 xref: NCI:C3457 is_a: DOID:0060060 ! non-Hodgkin lymphoma is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:7071 name: spinal cord dermoid cyst def: "A dermoid cyst that is located_in the spinal cord. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23772254 "DO"] synonym: "spinal cord dermoid" EXACT [] xref: NCI:C6808 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:2658 ! dermoid cyst is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:7076 name: breast lipid-rich carcinoma def: "A lipid-rich carcinoma characterized by the presence of cytoplasmic neutral lipids in the vast majority of the malignant cells. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=16.12d&ns=NCI_Thesaurus&code=C40365 "DO"] xref: NCI:C40365 is_a: DOID:5658 ! lipid-rich carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:7077 name: malignant melanocytic peripheral nerve sheath tumor of mediastinum synonym: "mediastinal melanocytic MPNST" EXACT [] xref: NCI:C6630 is_a: DOID:5559 ! mediastinal cancer is_a: DOID:5940 ! malignant peripheral nerve sheath tumor created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:7079 name: adult cystic teratoma def: "A cystic teratoma that is present in an adult. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27038684 "DO"] xref: NCI:C9012 is_a: DOID:2660 ! cystic teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:7081 name: lung mixed small cell and squamous cell carcinoma synonym: "combined small and large cell lung cancer" EXACT [] synonym: "mixed small cell and squamous cell carcinoma of lung" EXACT [] synonym: "small cell and large cell carcinoma of the lung" EXACT [] synonym: "small cell and squamous cell carcinoma of the lung" EXACT [] xref: NCI:C9423 is_a: DOID:5410 ! pulmonary neuroendocrine tumor created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7086 name: multicentric papillary thyroid carcinoma def: "A papillary thyroid carcinoma arising in the thyroid gland from multiple foci. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30884463/ "DO"] synonym: "Multifocal papillary thyroid carcinoma (PTC)" EXACT [] xref: NCI:C37304 xref: RDO:9003807 is_a: DOID:3969 ! papillary thyroid carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7088 name: columnar cell papillary thyroid carcinoma def: "A papillary thyroid carcinoma that is characterized by the presence of pseudostratified malignant follicular cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/33783022/ "DO"] synonym: "Columnar cell PTC" EXACT [] synonym: "Columnar cell variant (CCV)" EXACT [] synonym: "columnar cell variant papillary carcinoma" EXACT [] xref: ICDO:8344/3 xref: MONDO:0004102 xref: NCI:C35830 is_a: DOID:3969 ! papillary thyroid carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7089 name: tall cell papillary thyroid carcinoma def: "A papillary thyroid carcinoma that is characterized by the presence of tall malignant follicular cells, arranged in papillary and trabecular patterns. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32701516/ "DO"] synonym: "Tall cell PTC" EXACT [] synonym: "tall cell variant papillary carcinoma" EXACT [] synonym: "Tall Cell Variant Thyroid Gland Papillary Carcinoma" EXACT [] xref: MONDO:0004103 xref: NCI:C35558 is_a: DOID:3969 ! papillary thyroid carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:709 name: splenic manifestation of hairy cell leukemia synonym: "hairy cell leukaemia of spleen" EXACT [] synonym: "hairy cell leukemia of spleen" EXACT [] synonym: "splenic manifestation of hairy cell leukaemia" EXACT [] xref: ICD9CM:202.47 xref: NCI:C7301 is_a: DOID:285 ! hairy cell leukemia is_a: DOID:710 ! splenic manifestation of leukemia created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:7095 name: childhood epithelioid sarcoma synonym: "pediatric epithelioid sarcoma" EXACT [] xref: ICD-O:M8804/3 xref: NCI:C8095 is_a: DOID:6193 ! epithelioid sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:7097 name: macrocystic pattern testicular yolk sac tumor xref: NCI:C39924 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:710 name: splenic manifestation of leukemia def: "A leukemia that is located_in the spleen. It results_in an enlargement of the leukemia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1492871/ "DO"] synonym: "splenic leukemia" RELATED [] xref: NCI:C7296 is_a: DOID:672 ! spleen cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:7103 name: diaphragma sellae meningioma synonym: "meningioma of diaphragm sellae" EXACT [] xref: NCI:C5283 is_a: DOID:3643 ! sella turcica neoplasm is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:7105 name: epiglottis neoplasm synonym: "epiglottic tumor" EXACT [] synonym: "neoplasm of epiglottis" EXACT [] xref: NCI:C4933 is_a: DOID:8002 ! supraglottis neoplasm [Term] id: DOID:711 name: refractory hairy cell leukemia def: "A refractory hematologic cancer that is a mature B cell cancer that does not yield readily to treatment. (DO)" [http://en.wikipedia.org/wiki/Hairy_cell_leukemia "DO", http://www.medterms.com/script/main/art.asp?articlekey=5274 "DO"] xref: ICD10CM:C91.42 xref: NCI:C142882 xref: NCI:C8030 is_a: DOID:285 ! hairy cell leukemia is_a: DOID:712 ! refractory hematologic cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:712 name: refractory hematologic cancer def: "A hematologic cancer that is located in the blood or bone marrow that doesn't respond to treatment. (DO)" [http://www.cancer.gov/dictionary/?CdrID=45708 "DO", http://www.cancer.gov/templates/db_alpha.aspx?CdrID=45863 "DO"] xref: NCI:C27357 is_a: DOID:2531 ! hematologic cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:7127 name: radiation cystitis synonym: "irradiation cystitis" EXACT [] xref: ICD10CM:N30.4 xref: ICD9CM:595.82 xref: NCI:C123174 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:713 name: HCL-V synonym: "hairy cell leukaemia variant" EXACT [] synonym: "hairy cell leukemia variant" EXACT [] xref: NCI:C7401 is_a: DOID:285 ! hairy cell leukemia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7132 name: urinary bladder small cell neuroendocrine carcinoma synonym: "EFO:1000129" EXACT [] synonym: "small cell/neuroendocrine carcinoma of urinary bladder" EXACT [] synonym: "small cell neuroendocrine carcinoma of the urinary bladder" EXACT [] xref: EFO:1000129 xref: NCI:C9461 is_a: DOID:4007 ! bladder carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7133 name: gallbladder small cell carcinoma synonym: "EFO:1000266" EXACT [] synonym: "Gallbladder Oat Cell Carcinoma" EXACT [] synonym: "Gallbladder Small Cell NEC" EXACT [] synonym: "Gallbladder Small Cell Neuroendocrine Carcinoma" EXACT [] synonym: "oat cell carcinoma of the gallbladder" EXACT [] xref: EFO:1000266 xref: NCI:C6763 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:4948 ! gallbladder carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7134 name: esophagus small cell carcinoma synonym: "oat cell carcinoma of esophagus" EXACT [] synonym: "Oat cell carcinoma of oesophagus" EXACT [] synonym: "oesophagus small cell carcinoma" EXACT [] xref: NCI:C6762 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:1107 ! esophageal carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:7136 name: ampulla of Vater small cell carcinoma synonym: "ampullary small cell carcinoma" EXACT [] xref: NCI:C6655 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:4932 ! ampulla of Vater carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7138 name: cystitis cystica def: "A cysititis that is characterized by hyperplasia of bladder submucosa and cyst formation caused by chronic irritation of the bladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28466074 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29552345 "DO"] xref: ICD9CM:595.81 xref: NCI:C96230 is_a: DOID:1679 ! cystitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:7139 name: endometrial small cell carcinoma def: "An small cell carcinoma that has_material_basis_in small cells and located_in the endometrium. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24615329 "DO"] synonym: "EFO:1000239" EXACT [] xref: EFO:1000239 xref: NCI:C40155 xref: RDO:9002084 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:2871 ! endometrial carcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:7140 name: Bartholin's gland small cell carcinoma def: "A small cell carcinoma that is characterized as an undifferentiated neoplasm composed of primitive-appearing cells and located_in Bartholin's gland. (DO)" [https://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "Bartholin gland small cell carcinoma" EXACT [] xref: NCI:C40298 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:3999 ! Bartholin's gland carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7141 name: prostate small cell carcinoma synonym: "EFO:1000499" EXACT [] synonym: "METASTATIC PROSTATE SMALL CELL CARCINOMA" NARROW [] synonym: "prostate oat cell carcinoma" EXACT [] synonym: "small cell carcinoma of prostate" EXACT [] xref: EFO:1000499 xref: NCI:C6766 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:10286 ! prostate carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:7142 name: thymus small cell carcinoma synonym: "EFO:1000578" EXACT [] synonym: "small cell carcinoma of the thymus" EXACT [] xref: EFO:1000578 xref: MONDO:0004122 xref: NCI:C6460 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:3284 ! thymic carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7144 name: laryngeal small cell carcinoma synonym: "EFO:1000320" EXACT [] synonym: "small cell carcinoma of larynx" EXACT [] xref: EFO:1000320 xref: NCI:C6025 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:2600 ! laryngeal carcinoma is_a: DOID:5469 ! biliary tract intraductal papillary mucinous neoplasm created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7146 name: Langerhans cell sarcoma def: "A histiocytic and dendritic cell cancer that derives from the lymph nodes, derives from the skin, derives from the liver, derives from the spleen and derives from bones. (DO)" [http://en.wikipedia.org/wiki/Langerhans_cell_sarcoma "DO", https://pubmed.ncbi.nlm.nih.gov/25805533/ "DO"] synonym: "EFO:0007336" EXACT [] synonym: "Langerhans cell sarcomas" EXACT [] xref: EFO:0007336 xref: GARD:10491 xref: ICD10CM:C96.4 xref: ICDO:9756/3 xref: MESH:D054752 xref: NCI:C6921 xref: ORDO:86897 is_a: DOID:2570 ! malignant histiocytic disease is_a: DOID:7849 ! dendritic cell sarcoma [Term] id: DOID:7147 name: ankylosing spondylitis def: "An arthritis that results_in inflammation in the joints of the spine and pelvis. The disease has_symptom pain, has_symptom stiffness in the spine, has_symptom stiffness in the neck, has_symptom stiffness in the hips, has_symptom stiffness in the jaw and has_symptom stiffness in the rib cage. (DO)" [http://en.wikipedia.org/wiki/Ankylosing_spondylitis "DO", http://www.mayoclinic.com/health/ankylosing-spondylitis/DS00483 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000420.htm "DO", http://www.spondylitis.org/about/as.aspx "DO"] synonym: "ankylosing spondylarthritides" EXACT [] synonym: "ankylosing spondylarthritis" EXACT [] synonym: "ankylosing spondylitis, susceptibility to" RELATED [] synonym: "ankylosing spondyloarthritides" EXACT [] synonym: "ankylosing spondyloarthritis" EXACT [] synonym: "Bechterew's disease" EXACT [] synonym: "Bechterew Disease" EXACT [] synonym: "Bechterews disease" EXACT [] synonym: "Bechterew syndrome" EXACT [] synonym: "Bekhterev's disease" EXACT [] synonym: "Bekhterev syndrome" EXACT [] synonym: "Marie Struempell disease" EXACT [] synonym: "Marie-Strumpell disease" EXACT [] synonym: "Marie Strumpell spondylitis" EXACT [] synonym: "rheumatoid spondylitis" EXACT [] synonym: "spondylarthritis ankylopoietica" EXACT [] synonym: "spondylitis ankylopoietica" EXACT [] synonym: "spondyloarthritis ankylopoietica" EXACT [] xref: EFO:0003898 xref: GARD:9518 xref: ICD10CM:M45 xref: ICD9CM:720.0 xref: MESH:D013167 xref: MIM:PS106300 xref: NCI:C84564 xref: ORDO:825 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:227 ! ankylosis is_a: DOID:6590 ! spondylitis is_a: DOID:848 ! arthritis [Term] id: DOID:7148 name: rheumatoid arthritis alt_id: MIM:180300 def: "An arthritis that is an autoimmune disease which attacks healthy cells and tissue located_in joint. (DO)" [http://en.wikipedia.org/wiki/Rheumatoid_arthritis "DO", http://www.mayoclinic.org/diseases-conditions/rheumatoid-arthritis/home/ovc-20197388 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000431.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=rheumatoid%20arthritis "DO"] synonym: "ACPA-negative rheumatoid arthritis" NARROW [] synonym: "ACPA-positive rheumatoid arthritis" NARROW [] synonym: "atrophic arthritis" EXACT [] synonym: "RA" EXACT [] synonym: "rheumatic arthritis or polyarthritis" EXACT [] synonym: "RHEUMATOID ARTHRITIS, PROGRESSION OF" NARROW [] synonym: "rheumatoid arthritis, susceptibility to" RELATED [] synonym: "SLC22A4-RELATED CONDITION" NARROW [] xref: EFO:0000685 xref: EFO:0009459 xref: EFO:0009460 xref: ICD10CM:M06.9 xref: ICD9CM:714.0 xref: MESH:D001172 xref: NCI:C2884 is_a: DOID:1575 ! rheumatic disease is_a: DOID:848 ! arthritis [Term] id: DOID:7152 name: prostate stromal sarcoma def: "A stromal sarcoma and sarcoma of prostate and tumor of specialized prostatic stroma that is located_in the prostate. (DO)" [http://www.pathologyoutlines.com/topic/prostatestromalsarcoma.html "DO"] synonym: "stromal sarcoma of the prostate" EXACT [] xref: NCI:C5524 xref: RDO:9001831 is_a: DOID:4054 ! prostate sarcoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:7154 name: anaplastic oligodendroglioma def: "An oligodendroglioma that is characterized by focal or diffuse malignant morphologic features (prominent nuclear pleomorphism, mitoses, and increased cellularity). (DO)" [https://en.wikipedia.org/wiki/Anaplastic_oligodendroglioma "DO", https://my.clevelandclinic.org/health/diseases/21191-oligodendroglioma "DO", https://www.cancer.gov/rare-brain-spine-tumor/tumors/oligodendroglioma "DO"] synonym: "anaplastic oligodendrogliomas" EXACT [] xref: EFO:0002501 xref: NCI:C4326 is_a: DOID:3181 ! oligodendroglioma created_by: mtutaj creation_date: 2021-01-28T23:10:11Z [Term] id: DOID:7160 name: rectal leiomyoma def: "A rectal benign neoplasm that has_material_basis_in smooth muscle tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29657702 "DO"] synonym: "leiomyoma of rectum" EXACT [] synonym: "rectum leiomyoma" EXACT [] xref: NCI:C5552 is_a: DOID:1984 ! rectal benign neoplasm is_a: DOID:5143 ! large bowel leiomyoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:7165 name: subacute thyroiditis def: "Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection." [MESH:D013968] synonym: "de Quervain's thyroiditis" EXACT [] synonym: "De Quervain Thyroiditis" EXACT [] synonym: "giant cell thyroiditides" EXACT [] synonym: "Giant Cell Thyroiditis" EXACT [] synonym: "Granulomatous Thyroiditides" EXACT [] synonym: "Granulomatous Thyroiditis" EXACT [] synonym: "Subacute Granulomatous Thyroiditis" EXACT [NCI2004_11_17:C35828] synonym: "Subacute Nonsuppurative Thyroiditides" EXACT [] synonym: "Subacute Nonsuppurative Thyroiditis" EXACT [] synonym: "Subacute Painful Thyroiditides" EXACT [] synonym: "Subacute Painful Thyroiditis" EXACT [] synonym: "subacute thyroiditides" EXACT [] xref: EFO:1001194 xref: ICD10CM:E06.1 xref: ICD9CM:245.1 xref: MESH:D013968 xref: NCI:C35071 xref: NCI:C35828 is_a: DOID:7166 ! thyroiditis [Term] id: DOID:7166 name: thyroiditis def: "Inflammatory diseases of the THYROID GLAND. Thyroiditis can be classified into acute (THYROIDITIS, SUPPURATIVE), subacute (granulomatous and lymphocytic), chronic fibrous (Riedel's), chronic lymphocytic (HASHIMOTO DISEASE), transient (POSTPARTUM THYROIDITIS), and other AUTOIMMUNE THYROIDITIS subtypes." [MESH:D013966] synonym: "Thyroiditides" EXACT [] xref: ICD10CM:E06 xref: ICD9CM:245 xref: MESH:D013966 xref: NCI:C26894 is_a: DOID:50 ! thyroid gland disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:7168 name: lung occult adenocarcinoma synonym: "occult adenocarcinoma of lung" EXACT [] synonym: "occult adenocarcinoma of the lung" EXACT [] xref: NCI:C6699 is_a: DOID:3910 ! lung adenocarcinoma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:7169 name: lung occult large cell carcinoma synonym: "Occult large cell carcinoma of the lung" RELATED [] xref: MONDO:0004128 xref: NCI:C6685 is_a: DOID:4556 ! lung large cell carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:7173 name: cloacogenic carcinoma synonym: "cloacogenic anal carcinoma" EXACT [] xref: ICDO:8124/3 xref: NCI:C8255 is_a: DOID:5525 ! anal squamous cell carcinoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:7174 name: anus basaloid carcinoma synonym: "anal basaloid carcinoma" EXACT [] synonym: "basaloid carcinoma of the anus" EXACT [] xref: NCI:C8256 is_a: DOID:5522 ! basaloid squamous cell carcinoma is_a: DOID:5525 ! anal squamous cell carcinoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:7175 name: anal Buschke-Lowenstein tumor synonym: "anal giant (malignant) condyloma" EXACT [] xref: NCI:C7470 is_a: DOID:5525 ! anal squamous cell carcinoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:7177 name: anal canal squamous cell carcinoma def: "An anal canal cancer that derives_from epithelial squamous cells. (DO)" [http://en.wikipedia.org/wiki/Squamous-cell_carcinoma "DO"] xref: NCI:C7469 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:6126 ! anal canal carcinoma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:7179 name: mixed eosinophil-basophil adenoma synonym: "mixed acidophil-basophil adenoma" EXACT [] xref: NCI:C4148 is_a: DOID:5395 ! functioning pituitary adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:718 name: autoimmune hemolytic anemia alt_id: MIM:205700 def: "A hemolytic anemia that is characterized by deficient red blood cells caused by auto-antibodies. (DO)" [http://en.wikipedia.org/wiki/Autoimmune_hemolytic_anemia "DO"] synonym: "acquired autoimmune hemolytic anemia" EXACT [] synonym: "acquired idiopathic hemolytic anemia" EXACT [] synonym: "AIHA" EXACT [] synonym: "autoimmune haemolytic anaemia" EXACT [] synonym: "autoimmune hemolytic anaemia" EXACT [] synonym: "Autoimmune Hemolytic Anemias" EXACT [] synonym: "Cold Agglutinin Disease" EXACT [] synonym: "Cold Agglutinin Diseases" EXACT [] synonym: "Cold Antibody Disease" EXACT [] synonym: "Cold Antibody Diseases" EXACT [] synonym: "Cold Antibody Hemolytic Anemia" EXACT [] synonym: "idiopathic autoimmune hemolytic anemia" EXACT [] xref: EFO:1001264 xref: GARD:5870 xref: ICD9CM:283.0 xref: MESH:D000744 xref: NCI:C34378 is_a: DOID:0060050 ! autoimmune disease of blood is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:7181 name: benign dermal neurilemmoma synonym: "benign schwannoma of the skin" EXACT [] xref: NCI:C5569 is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:3192 ! neurilemmoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7187 name: subacute lymphocytic thyroiditis xref: NCI:C35829 is_a: DOID:7165 ! subacute thyroiditis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7188 name: autoimmune thyroiditis alt_id: MIM:608173 alt_id: MIM:608174 alt_id: MIM:608175 alt_id: MIM:608176 def: "An autoimmune disease of endocrine system that involves inflammation located_in thyroid gland caused by the immune system reacting against its own tissues. (DO)" [https://en.wikipedia.org/wiki/Autoimmune_thyroiditis "DO"] synonym: "AITD1" RELATED [] synonym: "AITD2" RELATED [] synonym: "AITD3" RELATED [] synonym: "AITD4" RELATED [] synonym: "atrophic thyroiditis" NARROW [] synonym: "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 2" RELATED [] synonym: "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 3" RELATED [] synonym: "AUTOIMMUNE THYROID DISEASE, SUSCEPTIBILITY TO, 4" RELATED [] synonym: "autoimmune thyroiditides" EXACT [] synonym: "chronic lymphocytic thyroiditis" NARROW [] synonym: "Hashimoto's thyroiditis" NARROW [] synonym: "Hashimoto thyroiditis" NARROW [] synonym: "lymphocytic thyroiditides" EXACT [] synonym: "lymphocytic thyroiditis" EXACT [] synonym: "lymphomatous thyroiditides" EXACT [] synonym: "lymphomatous thyroiditis" EXACT [] synonym: "TG-RELATED CONDITION" BROAD [] xref: EFO:0003779 xref: EFO:0006812 xref: EFO:0006813 xref: ICD10CM:E06.3 xref: MESH:D013967 xref: NCI:C38766 is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:7166 ! thyroiditis [Term] id: DOID:7191 name: ovarian endometrioid cystadenoma def: "An ovarian cystadenoma that is characterized by the presence of endometrial tissue. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30725635/ "DO"] xref: NCI:C40075 is_a: DOID:3269 ! ovarian cystadenoma [Term] id: DOID:7192 name: hereditary conventional renal cell carcinoma xref: NCI:C36260 is_a: DOID:4455 ! hereditary renal cell carcinoma created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:7198 name: maxillary sinus adenoid cystic carcinoma synonym: "adenoid cystic carcinoma of maxillary sinus" EXACT [] synonym: "adenoid cystic carcinoma of the maxillary sinus" EXACT [] synonym: "EFO:1000365" EXACT [] xref: EFO:1000365 xref: NCI:C6239 is_a: DOID:1357 ! maxillary sinus cancer [Term] id: DOID:720 name: normocytic anemia def: "An anemia that is characterized by circulating red blood cells that are the same size and have a normal red color and a mean corpuscular volume (MCV) between 80 and 100 fL. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK565880 "DO"] synonym: "Normocytic normochromic anemia" EXACT [] xref: MONDO:0004139 xref: NCI:C35142 is_a: DOID:2355 ! anemia created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:7202 name: intermediate malignant teratoma def: "A malignant teratoma characterized by the presence of an intermediate amount of undifferentiated tissues. (DO)" [http://codes.iarc.fr/code/3630 "DO"] synonym: "intermediate immature teratoma" EXACT [] xref: NCI:C4288 is_a: DOID:5563 ! malignant teratoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:7206 name: melanomatosis xref: NCI:C9499 is_a: DOID:1909 ! melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:7207 name: lung combined large cell neuroendocrine carcinoma synonym: "combined large cell neuroendocrine carcinoma of lung" EXACT [] synonym: "pulmonary combined large cell neuroendocrine carcinoma" EXACT [] xref: NCI:C7267 is_a: DOID:6658 ! pulmonary large cell neuroendocrine carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:7210 name: psammomatous meningioma xref: EFO:1000500 xref: ICDO:9533/0 xref: NCI:C4331 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7211 name: fibrous meningioma synonym: "Fibroblastic meningioma" EXACT [] xref: EFO:1000258 xref: ICDO:9532/0 xref: NCI:C4330 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7212 name: meningothelial meningioma synonym: "meningotheliomatous meningioma" EXACT [] xref: EFO:1000372 xref: ICDO:9531/0 xref: NCI:C4329 xref: RDO:9004715 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7213 name: transitional meningioma synonym: "transitional (mixed) meningioma" EXACT [] xref: EFO:1000602 xref: ICDO:9537/0 xref: NCI:C4333 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7214 name: noninvasive malignant thymoma xref: NCI:C9080 is_a: DOID:3275 ! thymoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7221 name: gallbladder papillary carcinoma def: "A papillary carcioma that is located_in the gallbladder. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15974814 "DO"] synonym: "papillary carcinoma of the gallbladder" EXACT [] xref: NCI:C5743 is_a: DOID:3113 ! papillary carcinoma is_a: DOID:3500 ! gallbladder adenocarcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7222 name: gallbladder pleomorphic giant cell adenocarcinoma def: "Pleomorphic Giant cell adenocarcinoma of the gallbladder." [] synonym: "Pleomorphic Giant cell adenocarcinoma of the gallbladder" EXACT [NCI2004_11_17:C5838] is_a: DOID:3500 ! gallbladder adenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:7223 name: breast giant fibroadenoma def: "A breast fibroadenoma that is larger than 5 cm. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4596698/ "DO"] synonym: "Giant Fibroadenoma" EXACT [NCI2004_11_17:C4273] synonym: "Giant fibroadenoma of breast" EXACT [SNOMEDCT_2005_07_31:254846003] xref: NCI:C4273 xref: RDO:9004272 is_a: DOID:1618 ! breast fibroadenoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7224 name: spinal meninges cancer synonym: "malignant neoplasm of spinal meninges" EXACT [] xref: ICD10CM:C70.1 xref: ICD9CM:192.3 is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:7230 name: postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma synonym: "CLL/SLL with IGVH SHM" EXACT [] xref: NCI:C37201 is_a: DOID:6354 ! chronic lymphocytic leukemia/small lymphocytic lymphoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:7231 name: childhood CNS embryonal cell carcinoma def: "A central nervous system childhood germ cell tumor characterized by germ cell tumor that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq "DO", https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq "DO"] synonym: "embryonal carcinoma of paediatric CNS" EXACT [] synonym: "embryonal carcinoma of pediatric CNS" EXACT [] synonym: "paediatric CNS embryonal cell carcinoma" EXACT [] synonym: "pediatric CNS embryonal cell carcinoma" EXACT [] xref: NCI:C6208 is_a: DOID:1319 ! brain cancer is_a: DOID:6052 ! central nervous system childhood germ cell tumor created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7232 name: central nervous system embryonal carcinoma synonym: "Embryonal carcinoma of CNS" EXACT [NCI2004_11_17:C7010] synonym: "embryonal carcinoma of the central nervous system" RELATED [] xref: NCI:C7010 xref: RDO:9004157 is_a: DOID:3308 ! embryonal carcinoma is_a: DOID:4439 ! central nervous system germ cell tumor created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7233 name: adult central nervous system embryonal carcinoma def: "A central nervous system adult germ cell tumor that develops from mismigrational pluripotent embryonic cells that remain in the brain after birth, has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-embryonal-treatment-pdq "DO", https://www.ncbi.nlm.nih.gov/pubmed/17997317 "DO"] synonym: "Embryonal carcinoma of the adult central nervous system" EXACT [NCI2004_11_17:C5790] xref: NCI:C5790 is_a: DOID:5349 ! central nervous system adult germ cell tumor [Term] id: DOID:7234 name: mucinous cystadenocarcinoma of pancreas def: "A pancreatic cystadenocarinoma that is characterized by histological characteristics of columnar, mucin-producing epithelium associated with ovarian-type subepithelial stroma, which does not communicate with the pancreatic ductal system, most frequently localized to the body or tail of the pancreas. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK448105/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3959310/ "DO"] synonym: "pancreatic colloid cystadenocarcinoma" EXACT [] synonym: "pancreatic mucinous cystadenocarcinoma" EXACT [] xref: NCI:C5713 is_a: DOID:3603 ! mucinous cystadenocarcinoma is_a: DOID:4073 ! pancreatic cystadenocarcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7235 name: pancreatic mucinous cystadenoma synonym: "pancreatic mucinous cystic neoplasm" EXACT [] xref: NCI:C41247 xref: RDO:9004096 is_a: DOID:3918 ! pancreatic cystadenoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:7236 name: pancreatic invasive mucinous cystadenocarcinoma xref: NCI:C41246 is_a: DOID:7234 ! mucinous cystadenocarcinoma of pancreas created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7237 name: pancreatic non-invasive mucinous cystadenocarcinoma xref: NCI:C41245 is_a: DOID:7234 ! mucinous cystadenocarcinoma of pancreas created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:724 name: female stress incontinence synonym: "female urinary stress incontinence" EXACT [] xref: ICD9CM:625.6 xref: NCI:C35042 xref: RDO:9003074 is_a: DOID:365 ! bladder disease is_a: DOID:9001330 ! Urinary Incontinence, Stress created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7241 name: uterine corpus apoplectic leiomyoma def: "An uterine corpus cellular leiomyoma that is characterized by stellate zones of recent hemorrhage within nodules of hypercellular smooth muscle. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomavariants.html "DO"] xref: NCI:C40165 is_a: DOID:7242 ! uterine corpus cellular leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7242 name: uterine corpus cellular leiomyoma def: "An uterine benign neoplasm that derives_from smooth muscle cells and that is located_in the uterine corpus. (DO)" [http://www.pathologyoutlines.com/topic/uterusleiomyomacellular.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25490906 "DO"] xref: NCI:C40163 is_a: DOID:0060095 ! uterine benign neoplasm is_a: DOID:5139 ! cellular leiomyoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7244 name: bladder urachal urothelial carcinoma xref: NCI:C39844 is_a: DOID:4006 ! bladder urothelial carcinoma is_a: DOID:5958 ! bladder urachal carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7246 name: lymphoepithelioma-like acinar prostate adenocarcinoma synonym: "Acinar Prostate Adenocarcinoma, Lymphoepithelioma-Like Variant" EXACT [] xref: NCI:C39885 is_a: DOID:2526 ! prostate adenocarcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7263 name: selective IgD deficiency disease def: "A selective immunoglobulin deficiency disease that is characterized by low serum levels of IgD immunoglobulins, but is associated with few clinical symptoms. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C27144 "DO"] synonym: "selective IgD immunodeficiency" EXACT [] synonym: "selective immunoglobulin D deficiency" EXACT [] xref: NCI:C27144 is_a: DOID:6025 ! selective immunoglobulin deficiency disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7266 name: familiar fallopian tube carcinoma xref: NCI:C40455 is_a: DOID:1963 ! fallopian tube carcinoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:7267 name: lung clear cell carcinoma is_a: DOID:3910 ! lung adenocarcinoma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:7269 name: cribriform variant testicular seminoma xref: NCI:C40957 is_a: DOID:5842 ! testis seminoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:727 name: premenstrual tension def: "A combination of distressing physical, psychologic, or behavioral changes that occur during the luteal phase of the menstrual cycle. Symptoms of PMS are diverse (such as pain, water-retention, anxiety, cravings, and depression) and they diminish markedly 2 or 3 days after the initiation of menses." [MESH:D011293] synonym: "Premenstrual Syndrome" EXACT [] synonym: "Premenstrual Syndromes" EXACT [] synonym: "Premenstrual Tensions" EXACT [] xref: ICD10CM:N94.3 xref: ICD9CM:625.4 xref: MESH:D011293 is_a: DOID:229 ! female reproductive system disease is_a: DOID:9004918 ! Menstruation Disturbances [Term] id: DOID:728 name: nodular episcleritis def: "A scleral disease that is characterized by painful inflammation with surface nodule formation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, blurry vision, and appearance of eye surface irregularity. Nodular episcleritis is typically self-limited and may be caused by vascular congestion within the superficial episcleral plexus. (DO)" [https://eyewiki.aao.org/Episcleritis "DO"] xref: ICD10CM:H15.12 xref: ICD9CM:379.02 is_a: DOID:11343 ! scleral disease [Term] id: DOID:7280 name: congenital epulis synonym: "congenital epulides" EXACT [] xref: NCI:C4675 is_a: DOID:0080015 ! physical disorder is_a: DOID:5337 ! epulis [Term] id: DOID:7281 name: uterine corpus adenocarcinofibroma def: "A uterine body mixed cancer that derives_from epithelial cells which originate in glandular tissue and connective tissue. (DO)" [http://www.cancernetwork.com/cancer-management/uterine-corpus-tumors "DO"] is_a: DOID:4114 ! uterine body mixed cancer is_a: DOID:4422 ! malignant adenofibroma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:7284 name: Skene gland carcinoma synonym: "carcinoma of the Paraurethral gland" EXACT [] synonym: "paraurethral gland carcinoma" EXACT [] xref: NCI:C39863 xref: NCI:C7371 is_a: DOID:14059 ! paraurethral gland cancer is_a: DOID:305 ! carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:7289 name: endometrial endometrioid adenocarcinoma, secretory variant def: "An endometrial adenocarcinoma that is characterized by the presence of confluent, cribriform or villoglandular voluminous glands with glycogen, subnuclear vacuoles (resembles day 17 - 22 endometrium), plus late secretory pattern in uninvolved endometrium. (DO)" [http://www.pathologyoutlines.com/topic/uterussecretory.html "DO"] synonym: "secretory uterine corpus endometrioid adenocarcinoma" EXACT [] xref: NCI:C27839 is_a: DOID:2870 ! endometrial adenocarcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:7293 name: mucin-rich endometrial endometrioid adenocarcinoma def: "An endometrial adenocarcinoma that is characterized by the presence of abundant mucin. (DO)" [https://pubmed.ncbi.nlm.nih.gov/28421274/ "DO"] xref: NCI:C8717 is_a: DOID:2870 ! endometrial adenocarcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:7297 name: childhood extraosseous osteosarcoma def: "An extraosseous osteosarcoma that arises from the soft tissue and occurs during childhood. (DO)" [https://pubmed.ncbi.nlm.nih.gov/18214458/ "DO"] synonym: "Childhood Extraskeletal Osteosarcoma" EXACT [] synonym: "pediatric extraskeletal osteosarcoma" EXACT [] xref: NCI:C27376 is_a: DOID:3357 ! extraosseous osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:730 name: urethral benign neoplasm synonym: "neoplasm. urethra" EXACT [NCI2004_11_17:C3428] synonym: "neoplasm of urethra" EXACT [SNOMEDCT_2005_07_31:126883004] xref: NCI:C3428 xref: RDO:9003376 is_a: DOID:731 ! urinary system benign neoplasm is_a: DOID:9002378 ! Urethral Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7302 name: endodermal sinus pattern testicular yolk sac tumor xref: NCI:C39927 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:7305 name: astroblastoma def: "A malignant astrocytoma that is characterized by tumor cells with characteristics suggestive of an astrocytic origin (positive for GFAP), arranged perivascularly. (DO)" [https://www.futuremedicine.com/doi/full/10.2217/cns-2018-0012 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910607/ "DO"] synonym: "astroblastomas" EXACT [] synonym: "ependymoastrocytoma" EXACT [] synonym: "ependymoastrocytomas" EXACT [] synonym: "neuroepithelial neoplasm" EXACT [] synonym: "neuroepithelial neoplasms" EXACT [] synonym: "neuroepithelial tumor" EXACT [] synonym: "neuroepithelial tumors" EXACT [] synonym: "polar spongioblastoma" RELATED [] xref: EFO:1000488 xref: GARD:10635 xref: ICDO:9430/3 xref: MESH:D018302 xref: NCI:C4324 is_a: DOID:171 ! neuroectodermal tumor is_a: DOID:3069 ! malignant astrocytoma is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:731 name: urinary system benign neoplasm def: "An organ system benign neoplasm that is located_in the kidneys, ureteres, bladder or urethra. (DO)" [http://en.wikipedia.org/wiki/Urinary_system "DO"] xref: NCI:C3431 is_a: DOID:0060085 ! organ system benign neoplasm is_a: DOID:18 ! urinary system disease is_a: DOID:9004643 ! Urologic Neoplasms created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:7312 name: breast adenomyoepithelial adenosis xref: NCI:C40391 is_a: DOID:5998 ! microglandular adenosis [Term] id: DOID:7315 name: Jewett-Marshall bladder cancer synonym: "Jewett-Marshall stage D1 bladder cancer" RELATED [] synonym: "Jewett-Marshall stage D2 bladder cancer" RELATED [] synonym: "stage IVB urinary bladder carcinoma" EXACT [] xref: NCI:C9368 is_a: DOID:4007 ! bladder carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7319 name: axonal neuropathy synonym: "MOTOR AXONAL NEUROPATHY" NARROW [] synonym: "PERIPHERAL AXONAL NEUROPATHY" RELATED [] synonym: "SENSORY AXONAL NEUROPATHY" NARROW [] xref: NCI:C27301 xref: RDO:9002728 is_a: DOID:870 ! neuropathy created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:732 name: urethral disease def: "A urinary system disease that is located_in the urethra. (DO)" [http://www.nlm.nih.gov/medlineplus/urethraldisorders.html "DO"] synonym: "urethra disease" EXACT [] synonym: "urethral diseases" EXACT [] xref: EFO:0009689 xref: ICD10CM:N36.9 xref: MESH:D014522 xref: NCI:C26903 is_a: DOID:18 ! urinary system disease [Term] id: DOID:7320 name: ovarian serous cystadenofibroma def: "An ovarian serous adenofibroma that is characterized by the presence of cysts or cystic spaces. (DO)" [https://en.wikipedia.org/wiki/Ovarian_serous_cystadenoma "DO"] xref: NCI:C40032 is_a: DOID:5474 ! ovarian serous adenofibroma [Term] id: DOID:7326 name: cranial pseudosarcomatous fasciitis xref: NCI:C27248 xref: RDO:9003832 is_a: DOID:7327 ! pseudosarcomatous fibromatosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7327 name: pseudosarcomatous fibromatosis synonym: "nodular fasciitis" EXACT [] synonym: "pseudosarcomatous fasciitis" EXACT [] xref: ICD10CM:M72.4 xref: NCI:C3827 is_a: DOID:9598 ! fasciitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7328 name: iris spindle cell melanoma def: "A malignant melanoma of iris and spindle cell intraocular melanoma that is located_in the iris. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional/page5 "DO"] xref: NCI:C6098 is_a: DOID:3162 ! malignant spindle cell melanoma is_a: DOID:6037 ! spindle cell intraocular melanoma is_a: DOID:6039 ! uveal melanoma is_a: DOID:6994 ! malignant iris melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:7332 name: esophageal tuberculosis def: "A gastrointestinal tuberculosis that involves formation of tuberculous ulcers located_in esophagus. The infection has_symptom dysphagia, has_symptom cough, has_symptom chest pain, has_symptom fever and has_symptom weight loss. (DO)" [http://www.springerlink.com/content/53763553187824h3/fulltext.pdf "DO"] synonym: "tuberculosis of esophagus" EXACT [] xref: ICD9CM:017.8 xref: RDO:9004489 is_a: DOID:404 ! gastrointestinal tuberculosis is_a: DOID:6050 ! esophageal disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7333 name: nephrogenic adenoma of urinary bladder synonym: "nephrogenic adenoma of the urinary bladder" EXACT [] xref: NCI:C7415 is_a: DOID:0050623 ! bladder benign neoplasm is_a: DOID:7334 ! nephrogenic adenoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:7334 name: nephrogenic adenoma xref: NCI:C7413 xref: NCI:C97097 is_a: DOID:3116 ! kidney benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:734 name: urethra cancer def: "An urinary tract cancer that derives_from the tissues of the urethra. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/urethral/Patient "DO"] synonym: "cancer of urethra" EXACT [] synonym: "malignant tumour of urethra" EXACT [] synonym: "malignant urethral neoplasm" EXACT [] synonym: "urethra cancers" EXACT [] synonym: "urethral Ca" EXACT [] synonym: "urethral cancer" EXACT [] synonym: "urethral cancers" EXACT [] xref: EFO:0003846 xref: GARD:9390 xref: ICD10CM:C68.0 xref: ICD9CM:189.3 xref: NCI:C7507 xref: NCI:C9106 xref: RDO:9002106 is_a: DOID:3996 ! urinary system cancer is_a: DOID:9002378 ! Urethral Neoplasms [Term] id: DOID:7340 name: childhood ovarian dysgerminoma def: "A childhood ovarian germ cell tumor that derives_from cells that give rise to egg cells. (DO)" [http://en.wikipedia.org/wiki/Dysgerminoma "DO", http://www.cancer.gov/dictionary?CdrID=672835 "DO"] synonym: "pediatric ovarian dysgerminoma" EXACT [] xref: ICD-O:M9060/3 xref: NCI:C6550 is_a: DOID:5511 ! dysgerminoma of ovary is_a: DOID:6084 ! childhood ovarian germ cell tumor created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7347 name: ovarian stromal hyperthecosis def: "An ovarian disease that is characterized by the presence of nests of luteinized theca cells scattered throughout the ovary, which results in severe hyperandrogenism and insulin resistance. Clinical symptoms involve slowly progressive acne, hirsutism, virilization. (DO)" [https://en.wikipedia.org/wiki/Hyperthecosis "DO"] xref: NCI:C40446 is_a: DOID:1100 ! ovarian disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7350 name: thymic dysplasia def: "This is the developmental arrest and architectural distortion of the thymus that results in immunodeficiency." [NCI:C27802] synonym: "thymus atrophy" BROAD [] xref: EFO:0009875 xref: NCI:C27802 is_a: DOID:533 ! thymus gland disease [Term] id: DOID:7356 name: rectum sarcomatoid carcinoma synonym: "sarcomatoid carcinoma of rectum" EXACT [] xref: NCI:C5556 is_a: DOID:4015 ! sarcomatoid carcinoma is_a: DOID:5528 ! rectum squamous cell carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:736 name: male urethral cancer xref: NCI:C39867 is_a: DOID:734 ! urethra cancer [Term] id: DOID:7360 name: solid pattern testicular yolk sac tumor xref: NCI:C39925 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:7363 name: vulvar keratinizing squamous cell carcinoma def: "A vulva squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16032717 "DO"] xref: NCI:C40284 is_a: DOID:2101 ! vulva squamous cell carcinoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:7365 name: Kimura disease def: "A chronic inflammatory disease characterized by benign enlargement of cervical LYMPH NODE and SALIVARY GLANDS with increased levels of IMMUNOGLOBULIN E. Unlike ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA it involves eosinophil infiltrates in lymph node and salivary glands and mostly found in Asian males. (MESH)" [] synonym: "Eosinophilic Granuloma of Soft Tissue" EXACT [] synonym: "Eosinophilic Hyperplastic Lymphogranuloma" EXACT [] synonym: "eosinophilic hyperplastic lymphogranulomas" EXACT [] synonym: "Eosinophilic Lymphofollicular Granuloma" EXACT [] synonym: "Eosinophilic Lymphofollicular Granulomas" EXACT [] synonym: "Eosinophilic Lymphofolliculoses" EXACT [] synonym: "eosinophilic lymphofolliculosis" EXACT [] synonym: "Kimura's disease" EXACT [] xref: EFO:1000722 xref: GARD:6835 xref: MESH:D000082242 xref: NCI:C26867 is_a: DOID:10854 ! salivary gland disease is_a: DOID:1602 ! lymphadenitis is_a: DOID:37 ! skin disease is_a: DOID:9001371 ! Eosinophilia is_a: DOID:9002019 ! Granuloma [Term] id: DOID:7371 name: superficial urinary bladder cancer def: "A carcinoma of bladder that originates in the epithelial cells (the internal lining) of the bladder wall and is limited to this area. (DO)" [http://www.malecare.com/new_page_91.htm "DO"] synonym: "superficial urinary bladder carcinoma" EXACT [] xref: NCI:C27474 is_a: DOID:4007 ! bladder carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7378 name: pituitary hypoplasia xref: NCI:C27343 xref: RDO:9004130 is_a: DOID:53 ! pituitary gland disease created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7379 name: adrenal medulla carcinoma def: "An adrenal medulla cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. (DO)" [http://en.wikipedia.org/wiki/Carcinoma "DO"] xref: NCI:C9276 is_a: DOID:305 ! carcinoma is_a: DOID:5719 ! adrenal medulla cancer created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:738 name: female urethral cancer xref: NCI:C39866 is_a: DOID:734 ! urethra cancer [Term] id: DOID:7380 name: squamous cell papilloma of skin synonym: "parakeratotic skin papilloma" EXACT [] xref: NCI:C4462 is_a: DOID:139 ! squamous cell papilloma is_a: DOID:3178 ! skin papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7381 name: lymphohistiocytoid mesothelioma xref: NCI:C27779 xref: RDO:9002754 is_a: DOID:7474 ! malignant pleural mesothelioma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7388 name: pulmonary vein leiomyosarcoma def: "A leiomyosarcoma that is located_in the pulmonary vein. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11107057 "DO"] synonym: "leiomyosarcoma of the pulmonary vein" EXACT [] xref: NCI:C5374 is_a: DOID:175 ! vascular cancer is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:866 ! vein disease created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:7389 name: pulmonary artery leiomyosarcoma def: "A leiomyosarcoma that is located_in the pulmonary artery. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22214627 "DO"] synonym: "leiomyosarcoma of the pulmonary artery" EXACT [] xref: NCI:C5373 is_a: DOID:1324 ! lung cancer is_a: DOID:175 ! vascular cancer is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:60001 ! pulmonary artery disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:7390 name: superior vena cava leiomyosarcoma def: "A leiomyosarcoma that is located_in the superior vena cava. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2733032/ "DO"] synonym: "leiomyosarcoma of the superior vena cava" EXACT [] xref: NCI:C6745 is_a: DOID:175 ! vascular cancer is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:866 ! vein disease created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:7398 name: cerebral primitive neuroectodermal tumor synonym: "PNET of cerebrum" EXACT [] xref: NCI:C4970 xref: RDO:9004164 is_a: DOID:0060103 ! central nervous system embryonal tumor is_a: DOID:368 ! cerebrum cancer created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:74 name: hematopoietic system disease def: "A disease of anatomical entity that has_material_basis_in hematopoietic cells. (DO)" [http://en.wikipedia.org/wiki/Hematopathology "DO", https://www.ncbi.nlm.nih.gov/books/NBK1741/ "DO"] synonym: "Blood Disease" EXACT [] synonym: "blood diseases" EXACT [] synonym: "blood disorder" EXACT [] synonym: "blood dyscrasia" EXACT [] synonym: "disease of haematopoietic system" EXACT [] synonym: "disease of hematopoietic system" EXACT [] synonym: "disease of the blood and blood-forming organs" EXACT [] synonym: "haematopoietic system disease" EXACT [] synonym: "Hematological Disease" EXACT [] synonym: "hematological diseases" EXACT [] synonym: "hematologic disease" EXACT [] synonym: "hematologic diseases" EXACT [] xref: EFO:0005803 xref: EFO:0010283 xref: ICD10CM:D75.9 xref: ICD9CM:289.9 xref: MESH:D006402 xref: NCI:C26323 is_a: DOID:7 ! disease of anatomical entity is_a: DOID:9008080 ! Hemic and Lymphatic Diseases [Term] id: DOID:7400 name: Nijmegen breakage syndrome alt_id: MIM:251260 def: "A syndrome characterized by chromosomal instability, microcephaly, growth retardation, immunodeficiency, cellular hypersensitivity to X-rays, and predisposition to cancer that has_material_basis_in homozygous or compound heterozygous mutation in NBN on chromosome 8q21.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/3277755 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9042920 "DO"] synonym: "ataxia-telangiectasia variant 1" EXACT [] synonym: "ataxia-telangiectasia variant V1" EXACT [] synonym: "ATAXIA-TELANGIECTASIA VARIANT V2" NARROW [] synonym: "At-V1" EXACT [] synonym: "AT-V2" NARROW [] synonym: "autosomal recessive nonsyndromal microcephaly with normal intelligence" EXACT [] synonym: "BBS" NARROW [] synonym: "Berlin Breakage Syndrome" EXACT [] synonym: "Immunodeficiency, Microcephaly, And Chromosomal Instability" EXACT [] synonym: "IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY BERLIN BREAKAGE SYNDROME" NARROW [] synonym: "immunodeficiency-microcephaly-chromosomal instability syndrome" EXACT [] synonym: "microcephaly-immunodeficiency-lymphoreticuloma syndrome" EXACT [] synonym: "MICROCEPHALY, NORMAL INTELLIGENCE AND IMMUNODEFICIENCY" EXACT [] synonym: "microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies" EXACT [] synonym: "NBS" EXACT [] synonym: "Seemanova syndrome" EXACT [] synonym: "Seemanova syndrome 2" EXACT [] synonym: "Seemanova syndrome II" EXACT [] synonym: "Seemanova syndrome type 2" EXACT [] xref: GARD:3904 xref: MESH:D049932 xref: NCI:C4692 xref: ORDO:647 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:7401 name: colonic L-cell glucagon-like peptide producing tumor xref: NCI:C27447 xref: RDO:9002031 is_a: DOID:219 ! colon cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:7402 name: L-cell glucagon-like peptide producing tumor xref: NCI:C27448 xref: RDO:9004101 is_a: DOID:4148 ! gastrointestinal neuroendocrine benign tumor created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:7408 name: vulvar keratoacanthoma def: "A vulva squamous cell carcinoma that is rapidly growing, self-limited, and characterized by the presence of a central crater that contains squamous cells. The proliferating squamous cells infiltrate the dermis below and produce keratin masses that are pushed towards the surface of the tumor. It is considered a variant of well-differentiated squamous cell carcinoma with distinct clinical behavior. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C40288 "DO", https://www.ncbi.nlm.nih.gov/pubmed/24719870 "DO"] comment: DO: NCI retired concept, vulvar keratoacanthoma-like carcinoma. synonym: "vulvar keratoacanthoma-like carcinoma" EXACT [] xref: NCI:C128167 is_a: DOID:2101 ! vulva squamous cell carcinoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:7409 name: vulvar non-keratinizing squamous cell carcinoma def: "A vulva squamous cell carcinoma that is composed of polygonal squamous cells growing in sheets or nests that may have intercellular bridges, but keratin pearls are not present. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374790/ "DO"] xref: NCI:C40285 is_a: DOID:2101 ! vulva squamous cell carcinoma created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:7411 name: ovarian endometrioid cystadenofibroma def: "An ovarian endometrioid adenofibroma that is characterized by the presence of cysts and/ or cystic spaces. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/514560 "DO"] xref: NCI:C27288 is_a: DOID:5480 ! ovarian endometrioid adenofibroma [Term] id: DOID:7426 name: cutaneous anthrax def: "An anthrax disease that results_in infection located_in skin, has_material_basis_in Bacillus anthracis, which is transmitted_by contact with infected animals or animal products. The infection has_symptom skin lesion that eventually forms an ulcer with a black center. (DO)" [https://en.wikipedia.org/wiki/Anthrax#Skin "DO"] synonym: "anthrax, skin type" EXACT [] synonym: "skin anthrax" EXACT [] xref: GARD:8158 xref: ICD10CM:A22.0 xref: ICD9CM:022.0 xref: MESH:C531621 is_a: DOID:13778 ! chancroid is_a: DOID:7427 ! anthrax disease is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:7427 name: anthrax disease def: "A primary bacterial infectious disease that results_in infection located_in skin, located_in lung lymph nodes or located_in gastrointestinal tract, has_material_basis_in Bacillus anthracis, transmitted_by contact with infected animals or animal products, transmitted_by airborne spores or transmitted_by ingestion of undercooked meat from infected animals and has_symptom skin ulcer, has_symptom nausea, has_symptom poor appetite, has_symptom bloody diarrhea, has_symptom fever or has_symptom shortness of breath. (DO)" [https://en.wikipedia.org/wiki/Anthrax "DO", https://medlineplus.gov/ency/article/001325.htm "DO", https://www.cdc.gov/anthrax/basics/index.html "DO", https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/anthrax "DO"] synonym: "anthrax" EXACT [] xref: EFO:0000778 xref: GARD:8157 xref: ICD10CM:A22 xref: ICD9CM:022 xref: MESH:D000881 xref: NCI:C84565 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9004154 ! Bacillaceae Infections [Term] id: DOID:7428 name: pineal region germinoma xref: NCI:C8712 is_a: DOID:1660 ! malignant pineal area germ cell neoplasm created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:7429 name: childhood brain germinoma def: "A brain germinoma that is characterized by tumor of the germ cell in childhood that has_material_basis_in abnormally proliferating cells derives_from germ cells, located_in pineal area and located_in suprasellar area. (DO)" [https://en.wikipedia.org/wiki/Germinoma "DO"] synonym: "germinoma of the pediatric brain" EXACT [] xref: NCI:C6207 is_a: DOID:2127 ! brain germinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:743 name: dermatographia alt_id: MIM:125635 def: "A physical urticaria induced by stroking of the skin. (DO)" [http://en.wikipedia.org/wiki/Dermatographic_urticaria "DO", http://www.dermnetnz.org/reactions/urticaria.html "DO"] synonym: "DDU" EXACT [] synonym: "dermatographic urticaria" EXACT [] synonym: "dermo-distortive urticaria" EXACT [] synonym: "dermodistortive urticaria" EXACT [] synonym: "dermographism" EXACT [] synonym: "familial dermatographism" EXACT [] synonym: "familial dermographism" EXACT [] xref: EFO:1000685 xref: ICD10CM:L50.3 xref: ICD9CM:708.3 xref: MESH:C536612 xref: NCI:C111885 is_a: DOID:0060220 ! physical urticaria created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:7430 name: childhood germ cell brain tumor def: "A central nervous system childhood germ cell tumor that is characterized by germ cell tumor, that develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq "DO"] synonym: "childhood germ cell brain tumour" EXACT [] synonym: "germ cell neoplasm of the paediatric brain" EXACT [] synonym: "germ cell neoplasm of the pediatric brain" EXACT [] xref: NCI:C5795 is_a: DOID:1319 ! brain cancer is_a: DOID:6052 ! central nervous system childhood germ cell tumor created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7435 name: polyvesicular vitelline pattern testicular yolk sac tumor xref: NCI:C39930 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:7436 name: sarcomatoid uterine corpus endometrioid adenocarcinoma def: "An endometrial adenocarcinoma that has_material_basis_in mesenchymal elements. (DO)" [https://en.wikipedia.org/wiki/Sarcomatoid_carcinoma "DO"] xref: NCI:C27850 xref: RDO:9002087 is_a: DOID:2870 ! endometrial adenocarcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:7437 name: uterus perivascular epithelioid cell tumor def: "A perivascular epithelioid cell tumor that is located_in the uterus. (DO)" [http://www.pathologyoutlines.com/topic/uterusPEComa.html "DO", https://en.wikipedia.org/wiki/Perivascular_epithelioid_cell_tumour "DO", https://www.ncbi.nlm.nih.gov/pubmed/24698426 "DO"] synonym: "uterine corpus PEComa" EXACT [] xref: NCI:C40180 is_a: DOID:2643 ! perivascular epithelioid cell tumor is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:7438 name: ovarian clear cell cystadenocarcinoma def: "An ovarian cystadenocarcinoma that is characterized by the presence of cells with clear cytoplasm. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22747504 "DO"] xref: NCI:C7980 xref: RDO:9002510 is_a: DOID:3605 ! ovarian cystadenocarcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:7439 name: polyp of middle ear synonym: "middle ear polyp" EXACT [] synonym: "polyp of the middle ear" EXACT [] xref: ICD10CM:H74.4 xref: MONDO:0004223 xref: NCI:C6933 is_a: DOID:5100 ! middle ear disease is_a: DOID:9003896 ! Polyps created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7441 name: chronic metabolic polyneuropathy xref: NCI:C35602 xref: RDO:9004835 is_a: DOID:5221 ! chronic polyneuropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:7442 name: monoclonal gammopathy of uncertain significance def: "A blood protein disease that is characterized by the presence of an abnormal protein called monoclonal protein in the blood. (DO)" [https://rarediseases.info.nih.gov/diseases/7034/monoclonal-gammopathy-of-undetermined-significance "DO", https://www.mayoclinic.org/diseases-conditions/mgus/symptoms-causes/syc-20352362 "DO"] synonym: "Benign Monoclonal Gammopathies" EXACT [] synonym: "Benign Monoclonal Gammopathy" EXACT [] synonym: "MGUS" EXACT [] synonym: "monoclonal gammopathy" EXACT [] synonym: "monoclonal gammopathy of undetermined significance" EXACT [] xref: EFO:0000203 xref: EFO:1000836 xref: GARD:7034 xref: MESH:D008998 xref: NCI:C3996 is_a: DOID:6536 ! plasma cell neoplasm is_a: DOID:9003571 ! Paraproteinemias is_a: DOID:9005358 ! Hypergammaglobulinemia [Term] id: DOID:745 name: epididymis adenomatoid tumor def: "A male reproductive organ benign neoplasm that is located_in the epididymis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19893140 "DO"] synonym: "adenomatoid neoplasm of the epididymis" RELATED [] synonym: "benign epididymal epithelial mesothelioma" EXACT [] xref: NCI:C6382 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:0080373 ! epididymis disease is_a: DOID:746 ! adenomatoid tumor is_a: DOID:9402 ! epididymitis created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:7457 name: enterobiasis def: "A parasitic helminthiasis infectious disease that involves infection of the anus by the pinworm Enterobius vermicularis. The major symptom is perianal itching. Infected people experience perianal pruritus and excoriations from scratching. (DO)" [http://www.dpd.cdc.gov/DPDx/HTML/Enterobiasis.htm "DO", http://www.merck.com/mmpe/sec14/ch182/ch182h.html?qt=enterobiasis&alt=sh "DO"] synonym: "Enterobiases" EXACT [] synonym: "Enterobius vermicularis Infection" EXACT [] synonym: "Enterobius vermicularis Infections" EXACT [] synonym: "oxyuris vermicularis infection" EXACT [] synonym: "Pinworm infection" RELATED [] synonym: "threadworm infection" EXACT [] xref: EFO:0007254 xref: ICD10CM:B80 xref: MESH:D017229 is_a: DOID:9005087 ! Oxyuriasis [Term] id: DOID:7459 name: acantholytic variant squamous cell breast carcinoma def: "A breast squamous cell carcinoma that is characterized by lack of cohesiveness of the tumour cells resulting in a pseudovascular or pseudoglandular appearance. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3223956/ "DO"] synonym: "EFO:1001969" EXACT [] xref: EFO:1001969 xref: NCI:C40359 is_a: DOID:5514 ! breast squamous cell carcinoma [Term] id: DOID:746 name: adenomatoid tumor def: "A small, circumscribed, benign tumor of the genital tract, composed of small glandlike spaces lined by flattened or cuboidal mesothelium-like cells. (From Dorland, 27th ed)" [MESH:D018254] synonym: "adenomatoid tumors" EXACT [] synonym: "adenomatoid tumour" EXACT [] synonym: "benign localised epithelial mesothelioma" EXACT [] synonym: "benign localized epithelial mesothelioma" EXACT [] xref: ICD10CM:D19.9 xref: ICDO:9054/0 xref: MESH:D018254 xref: NCI:C3762 is_a: DOID:2645 ! benign mesothelioma is_a: DOID:657 ! adenoma [Term] id: DOID:7460 name: spindle cell variant squamous cell breast carcinoma def: "A breast squamous cell carcinoma that is characterized by the presence of spindle-shaped malignant cells and arises from the breast parenchyma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25822766 "DO"] xref: NCI:C40358 is_a: DOID:5514 ! breast squamous cell carcinoma [Term] id: DOID:7461 name: large cell keratinizing variant squamous cell breast carcinoma def: "A breast squamous cell carcinoma characterized by large epithelial cells that contain keratin. (DO)" [https://ncim.nci.nih.gov/ncimbrowser/ConceptReport.jsp?dictionary=NCI%20Metathesaurus&code=C1519486 "DO"] xref: NCI:C40357 is_a: DOID:5514 ! breast squamous cell carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:7463 name: childhood pleomorphic rhabdomyosarcoma synonym: "childhood anaplastic rhabdomyosarcoma" EXACT [] xref: ICD-O:M8901/3 xref: NCI:C7959 xref: RDO:9003904 is_a: DOID:3250 ! pleomorphic rhabdomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7465 name: chronic NK-cell lymphocytosis def: "A hypersensitivity reaction type IV disease that is characterized by absolute lymphocytosis of natural killer (CD3- CD16+) cells often with concurrent cytopenia and has_symptom fever, arthralgia, apthous ulcers, vasculitic skin rash, and peripheral neuropathy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8624463 "DO"] synonym: "NK-cell large granular Lymphocyte Lymphocytosis" EXACT [] xref: NCI:C39591 is_a: DOID:2916 ! hypersensitivity reaction type IV disease [Term] id: DOID:7474 name: malignant pleural mesothelioma def: "A pleural cancer that has_material_basis_in mesothelium cells. (DO)" [http://en.wikipedia.org/wiki/Mesothelioma "DO"] synonym: "EFO:0000770" EXACT [] synonym: "malignant mesothelioma of pleura" EXACT [] synonym: "Pleural Sarcomatoid Mesothelioma" NARROW [] xref: EFO:0000770 xref: EFO:1000486 xref: ICD10CM:C45.0 xref: NCI:C7376 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:1790 ! malignant mesothelioma is_a: DOID:5158 ! pleural cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7475 name: diverticulitis def: "An intestinal disease characterized by the formation and inflammation of diverticula within the bowel wall. (DO)" [https://en.wikipedia.org/wiki/Diverticulitis "DO"] synonym: "diverticulitides" EXACT [] xref: EFO:1001460 xref: MESH:D004238 xref: NCI:C26752 is_a: DOID:2326 ! gastroenteritis is_a: DOID:5295 ! intestinal disease is_a: DOID:9002654 ! Intraabdominal Infections [Term] id: DOID:7479 name: duodenal somatostatinoma synonym: "duodenal delta cell somatostatin producing tumor" EXACT [] xref: NCI:C27407 is_a: DOID:10021 ! duodenum cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:7480 name: large cell carcinoma with rhabdoid phenotype synonym: "large cell lung carcinoma with rhabdoid phenotype" EXACT [] xref: ICDO:8014/3 xref: NCI:C6876 is_a: DOID:4552 ! large cell carcinoma is_a: DOID:4556 ! lung large cell carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:7482 name: petrous apex meningioma synonym: "meningioma of the Petrous Ridge" EXACT [NCI2004_11_17:C5271] xref: NCI:C5271 xref: RDO:9004630 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:7483 name: cervical keratinizing squamous cell carcinoma def: "A cervical squamous cell carcinoma that is characterized by keratin pearls, abundant keratohyaline granules or dense cytoplasmic keratinization. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11688467 "DO", https://www.ncbi.nlm.nih.gov/pubmed/31651557 "DO"] xref: NCI:C40187 is_a: DOID:3744 ! cervical squamous cell carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7488 name: posterior urethra cancer def: "A female urethral cancer located_in the posterior urethra. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/posterior-urethral-cancer "DO"] synonym: "Posterior urethral malignant tumor" EXACT [NCI2004_11_17:C7640] xref: NCI:C7640 is_a: DOID:738 ! female urethral cancer [Term] id: DOID:7489 name: Osgood-Schlatter's disease def: "A bone inflammation disease that involves rupture of the growth plate in children located_in tibia. (DO)" [http://en.wikipedia.org/wiki/Osgood%E2%80%93Schlatter_disease "DO", http://www.mayoclinic.com/health/osgood-schlatter-disease/DS00392 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001258.htm "DO"] synonym: "juvenile osteochondrosis of tibial tubercle" EXACT [] synonym: "Osgood-Schlatter disease" EXACT [] synonym: "osteochondritis of tibial tubercle" EXACT [] synonym: "osteochondrosis of proximal tibia" EXACT [] xref: ICD10CM:M92.52 xref: NCI:C34874 is_a: DOID:3342 ! bone inflammation disease is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:749 name: active peptic ulcer disease synonym: "GI Bleeding" EXACT [] is_a: DOID:750 ! peptic ulcer disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:7491 name: vulvar proximal-type epithelioid sarcoma xref: NCI:C40319 is_a: DOID:2096 ! vulvar sarcoma is_a: DOID:7492 ! central epithelioid sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:7492 name: central epithelioid sarcoma xref: NCI:C27472 is_a: DOID:6193 ! epithelioid sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:7497 name: brain ependymoma def: "A brain glioma that is characterized by tumor of the ependyma, has_material_basis_in abnormally proliferating cells derives_from ependymal cells, located_in spine in adults and located_in intracranial (4th ventricle) in children. (DO)" [https://en.wikipedia.org/wiki/Ependyma "DO", https://en.wikipedia.org/wiki/Ependymoma "DO"] synonym: "ependymal tumor of brain" EXACT [] synonym: "ependymoma of brain" EXACT [] xref: NCI:C3861 is_a: DOID:0060108 ! brain glioma is_a: DOID:5612 ! spinal cancer created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:75 name: lymphatic system disease def: "An immune system disease that is located_in the lymphatic system. (DO)" [http://en.wikipedia.org/wiki/Lymphatic_disease "DO", http://www.nlm.nih.gov/medlineplus/lymphaticdiseases.html "DO"] synonym: "disease of lympoid system" EXACT [] synonym: "disorder of lymphatic system" EXACT [] synonym: "disorder of lymph node and lymphatics" EXACT [] synonym: "disorder of lymphoid system" EXACT [] synonym: "lymphangiopathy" EXACT [] synonym: "lymphatic disease" EXACT [] synonym: "lymphatic diseases" EXACT [] synonym: "lymphatic disorder" EXACT [] synonym: "lymphatism" EXACT [] synonym: "lympoid system disease" EXACT [] synonym: "status lymphaticus" EXACT [] xref: EFO:0007352 xref: MESH:D008206 is_a: DOID:2914 ! immune system disease is_a: DOID:9008080 ! Hemic and Lymphatic Diseases [Term] id: DOID:750 name: peptic ulcer disease def: "Ulcer that occurs in the regions of the GASTROINTESTINAL TRACT which come into contact with GASTRIC JUICE containing PEPSIN and GASTRIC ACID. It occurs when there are defects in the MUCOSA barrier. The common forms of peptic ulcers are associated with HELICOBACTER PYLORI and the consumption of nonsteroidal anti-inflammatory drugs (NSAIDS)." [MESH:D010437] synonym: "acute peptic ulcer with hemorrhage" EXACT [] synonym: "acute peptic ulcer with hemorrhage and perforation" EXACT [] synonym: "acute peptic ulcer without hemorrhage and without perforation" EXACT [] synonym: "Gastroduodenal Ulcer" EXACT [] synonym: "gastroduodenal ulcers" EXACT [] synonym: "Marginal Ulcer" EXACT [] synonym: "Marginal Ulcers" EXACT [] synonym: "peptic ulcer" EXACT [] synonym: "peptic ulcers" EXACT [] synonym: "PHOSPHOLIPASE A2, GROUP IV A, DEFICIENCY OF" RELATED [] xref: ICD10CM:K27 xref: ICD9CM:533 xref: MESH:D010437 xref: MONDO:0004247 xref: NCI:C3318 is_a: DOID:4072 ! duodenum disease is_a: DOID:76 ! stomach disease is_a: DOID:9005175 ! Ulcer [Term] id: DOID:7501 name: childhood infratentorial ependymoma synonym: "pediatric infratentorial ependymoma" EXACT [] xref: NCI:C9041 is_a: DOID:4706 ! infratentorial cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7502 name: childhood supratentorial ependymoma synonym: "EFO:0008495" EXACT [] synonym: "paediatric cerebral ependymoma" EXACT [] synonym: "paediatric supratentorial ependymoblastoma" EXACT [] synonym: "paediatric supratentorial ependymoma" EXACT [] synonym: "pediatric cerebral ependymoma" EXACT [] synonym: "pediatric supratentorial ependymoblastoma" EXACT [] synonym: "pediatric supratentorial ependymoma" EXACT [] xref: EFO:0008495 xref: NCI:C9043 is_a: DOID:1659 ! supratentorial cancer created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7503 name: extrahepatic bile duct papillary adenoma def: "An extrahepatic bile duct adenoma that is located_in the extrahepatic bile duct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20690568 "DO"] synonym: "papillary adenoma of the extrahepatic bile duct" EXACT [] xref: NCI:C5849 is_a: DOID:3172 ! papillary adenoma is_a: DOID:5438 ! extrahepatic bile duct adenoma is_a: DOID:5468 ! biliary papillomatosis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7505 name: small intestine benign neoplasm synonym: "neoplasm of small intestine" EXACT [] synonym: "small intestinal neoplasm" EXACT [] synonym: "Small Intestinal Tubular Adenoma" NARROW [] synonym: "Small Intestinal Tubulovillous Adenoma" NARROW [] xref: EFO:1000538 xref: EFO:1000539 xref: NCI:C3600 xref: NCI:C4432 is_a: DOID:4610 ! intestinal benign neoplasm created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7506 name: small intestinal L-cell glucagon-like peptide producing tumor xref: NCI:C27452 is_a: DOID:10154 ! small intestine cancer created_by: rgd creation_date: 2017-11-09T00:00:00Z [Term] id: DOID:7511 name: breast intraductal papillomatosis alt_id: DOID:1634 def: "A benign breast neoplasm characterized by the presence of multiple intraductal papillomas. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23640929 "DO"] synonym: "breast papillomatosis" EXACT [] synonym: "intraductal papillomatosis of the breast" EXACT [] synonym: "papillomatosis of the breast" EXACT [] xref: NCI:C5201 is_a: DOID:0060082 ! breast benign neoplasm is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7514 name: Wolffian adnexal neoplasm synonym: "Female adnexal tumor of probable Wolffian origin" EXACT [] synonym: "Wolffian adenoma" EXACT [] synonym: "Wolffian adnexal tumor" EXACT [] synonym: "Wolffian tumor" EXACT [] xref: MESH:C536741 xref: NCI:C40141 is_a: DOID:5727 ! uterine ligament cancer is_a: DOID:657 ! adenoma is_a: DOID:9003261 ! Adnexal Diseases [Term] id: DOID:7515 name: lumbar spinal canal and spinal cord meningioma synonym: "meningioma of Lumbar Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5298] xref: NCI:C5298 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:7516 name: childhood central nervous system mixed germ cell tumor def: "A central nervous system germ cell tumor of childhood that is characterized by mixed germ cell tumor, develops from embryonic cells that remain in the brain after birth has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq "DO"] xref: ICD-O:M9085/3 xref: NCI:C27403 xref: RDO:9003460 is_a: DOID:1319 ! brain cancer is_a: DOID:6052 ! central nervous system childhood germ cell tumor created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7518 name: inhibited female orgasm synonym: "female orgasmic disorder" EXACT [] xref: ICD10CM:F52.31 xref: ICD9CM:302.73 xref: NCI:C34958 is_a: DOID:229 ! female reproductive system disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:7519 name: endocervical carcinoma def: "A cervix carcinoma that is located_in the endocervix. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2067992 "DO"] synonym: "carcinoma of endocervix" EXACT [] synonym: "carcinoma of the endocervix" EXACT [] is_a: DOID:2893 ! cervix carcinoma created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:752 name: peptic ulcer perforation def: "Penetration of a PEPTIC ULCER through the wall of DUODENUM or STOMACH allowing the leakage of luminal contents into the PERITONEAL CAVITY." [MESH:D010439] synonym: "acute peptic ulcer with perforation" EXACT [] synonym: "peptic ulcer perforations" EXACT [] synonym: "peptic ulcer with perforation" EXACT [] synonym: "perforated peptic ulcer" EXACT [] xref: EFO:1001389 xref: MESH:D010439 xref: MONDO:0004260 is_a: DOID:750 ! peptic ulcer disease [Term] id: DOID:7520 name: periductal breast myoepitheliosis def: "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells around small ducts. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23533258 "DO"] xref: NCI:C40388 is_a: DOID:7521 ! breast myoepitheliosis created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:7521 name: breast myoepitheliosis def: "A breast myoepithelial neoplasm that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in or around small ducts. (DO)" [http://www.pathologyoutlines.com/topic/breastmyoepithelioma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/1709559 "DO"] xref: NCI:C40385 is_a: DOID:3004 ! breast myoepithelial neoplasm created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:7522 name: childhood infratentorial embryonal tumor with multilayered rosettes, C19MC-altered def: "A childhood embryonal tumor with multilayered rosettes, C19MC-altered that arises from the infratentorial region and occurs in children. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6773 "DO"] synonym: "childhood infratentorial ependymoblastoma" EXACT [] synonym: "pediatric infratentorial ependymoblastoma" EXACT [] xref: NCI:C6773 is_a: DOID:4207 ! childhood infratentorial neoplasm is_a: DOID:7841 ! childhood embryonal tumor with multilayered rosettes, C19MC-altered created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7527 name: acute gonococcal endometritis def: "An acute endometritis that is caused by gonorrhea. (DO)" [https://en.wikipedia.org/wiki/Endometritis "DO"] synonym: "acute gonorrhea of uterus" EXACT [] synonym: "gonococcal endometritis" EXACT [] synonym: "uterus - acute gonorrhoea" EXACT [] xref: ICD9CM:098.16 is_a: DOID:7528 ! acute endometritis is_a: DOID:9008538 ! Neisseriaceae Infections created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7528 name: acute endometritis def: "An endometritis that is characterized by onset within the past 1 - 3 days. (DO)" [https://librepathology.org/wiki/Endometritis "DO", https://www.ncbi.nlm.nih.gov/pubmed/23537790 "DO"] xref: NCI:C27022 is_a: DOID:1002 ! endometritis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7531 name: anal gland adenocarcinoma def: "An anus carcinoma that derives_from epithelial cells of glandular origin located_in the anal gland. (DO)" [http://en.wikipedia.org/wiki/Adenocarcinoma "DO"] synonym: "adenocarcinoma of anal ducts" EXACT [SNOMEDCT_2005_07_31:128655006] synonym: "adenocarcinoma of anal gland" RELATED [] synonym: "anal glands adenocarcinoma" EXACT [NCI2004_11_17:C5609] xref: NCI:C5609 xref: RDO:9004686 is_a: DOID:3447 ! anus adenocarcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7532 name: squamous papillomatosis xref: ICDO:8060/0 xref: NCI:C9009 xref: RDO:9004103 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:7533 name: subareolar duct papillomatosis xref: NCI:C9008 is_a: DOID:3003 ! nipple benign neoplasm [Term] id: DOID:7537 name: breast cystic hypersecretory carcinoma def: "A breast secretory carcinoma that is characterized by numerous cysts of varying sizes containing gelatinous material on gross examination, microscopically dilated ducts containing eosinophilic secretion and the absence of micropapillary pattern and cytological atypia in the lining epithelium. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5535374/ "DO"] synonym: "cystic hypersecretory carcinoma of the breast" RELATED [] synonym: "cystic hypersecretory duct carcinoma of the breast" EXACT [NCI2004_11_17:C6869] is_a: DOID:4922 ! breast secretory carcinoma [Term] id: DOID:7538 name: breast ductal adenoma def: "A breast adenoma that is characterized by a prominent fibrotic capsule and a bilayered tubular component. (DO)" [http://surgpathcriteria.stanford.edu/breast/ductaladenomabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/25862065 "DO"] xref: NCI:C40384 is_a: DOID:1625 ! breast adenoma [Term] id: DOID:7539 name: pregnancy adenoma def: "A breast adenoma that occurs during pregnancy. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25835417 "DO"] synonym: "lactating adenoma" EXACT [] xref: NCI:C9473 is_a: DOID:1625 ! breast adenoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:754 name: bladder tuberculosis def: "An urogenital tuberculosis that is located_in urinary bladder, which results in fibrosis of bladder wall muscles. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"] synonym: "tuberculosis of bladder" EXACT [] synonym: "tuberculous cystitis" EXACT [] xref: ICD10CM:A18.12 xref: ICD9CM:016.1 is_a: DOID:2149 ! urogenital tuberculosis is_a: DOID:365 ! bladder disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7540 name: breast apocrine adenoma def: "A breast adenoma that is characterized by apocine differentiation. (DO)" [http://surgpathcriteria.stanford.edu/breast/apocrineadenomabr/printable.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/17936522 "DO"] xref: NCI:C40383 is_a: DOID:1625 ! breast adenoma is_a: DOID:3895 ! apocrine adenoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:7541 name: mixed epithelial/mesenchymal metaplastic breast carcinoma def: "A breast metaplastic carcinoma that is characterized by the presence of epithelial and mesenchymal components. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3976087/ "DO"] xref: NCI:C40364 xref: RDO:9001812 is_a: DOID:4680 ! breast metaplastic carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:7542 name: osteosarcoma arising in bone Paget's disease synonym: "osteosarcoma arising in bone Paget disease" EXACT [] synonym: "osteosarcoma arising in osseous Paget's disease" EXACT [] xref: NCI:C6469 is_a: DOID:3376 ! bone osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:7549 name: ceruminoma synonym: "ceruminous adenoma" EXACT [] xref: NCI:C6088 is_a: DOID:5876 ! apocrine sweat gland neoplasm created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:7551 name: gonorrhea def: "A primary bacterial infectious disease that is a sexually transmitted infection, located_in uterus, located_in fallopian tube, located_in urethra, located_in mouth, located_in throat, located_in eye or located_in anus, has_material_basis_in Neisseria gonorrhoeae, which is transmitted_by contact with the penis, vagina, mouth, or anus or transmitted_by congenitally from mother to baby during delivery. The infection has_symptom burning sensation during urination, has_symptom discharge from the penis, has_symptom increased vaginal discharge, or has_symptom vaginal bleeding between periods. (DO)" [http://www.cdc.gov/std/gonorrhea/STDFact-gonorrhea.htm "DO"] synonym: "chronic gonococcal infectious disease of lower genitourinary tract" EXACT [] synonym: "chronic gonococcal infectious disease of upper genitourinary tract" EXACT [] synonym: "gonorrheas" EXACT [] xref: ICD10CM:A54 xref: ICD9CM:098 xref: MESH:D006069 xref: NCI:C35730 xref: NCI:C92950 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:1962 ! fallopian tube disease is_a: DOID:3128 ! anus disease is_a: DOID:345 ! uterine disease is_a: DOID:5614 ! eye disease is_a: DOID:732 ! urethral disease is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases is_a: DOID:9008538 ! Neisseriaceae Infections [Term] id: DOID:7553 name: infiltrating bladder urothelial carcinoma sarcomatoid variant synonym: "EFO:1000303" EXACT [] synonym: "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant with Heterologous Elements" EXACT [] synonym: "Infiltrating bladder Urothelial carcinoma, sarcomatoid Variant without Heterologous Elements" EXACT [] xref: EFO:1000303 xref: NCI:C39824 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7558 name: glossopharyngeal motor neuropathy synonym: "glossopharyngeal motor neuropathies" EXACT [] xref: NCI:C27212 is_a: DOID:3418 ! glossopharyngeal nerve disease is_a: DOID:683 ! motor neuritis created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:7559 name: asymmetric motor neuropathy xref: NCI:C27953 xref: RDO:9003097 is_a: DOID:683 ! motor neuritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7565 name: vulvar eccrine porocarcinoma def: "A vulva carcinoma that is characterized by heterogenous histology that includes squamous cells, mucinous cells, clear cells, pigmented cells, and spindle cells and derives_from eccrine sweat glands. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105286/ "DO"] xref: NCI:C40306 is_a: DOID:1294 ! vulva carcinoma created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:7566 name: eccrine porocarcinoma alt_id: RDO:0007777 def: "A rare malignant neoplasm of the sweat glands. It most often develops as a form of degenerative progression from a benign ECCRINE POROMA." [MESH:D057090] synonym: "Eccrine porocarcinoma of skin" EXACT [SNOMEDCT_2005_07_31:254708001] synonym: "Eccrine Porocarcinomas" EXACT [] synonym: "EFO:1000229" EXACT [] synonym: "Malignant Eccrine Poroma" EXACT [] synonym: "Malignant Eccrine Poromas" EXACT [] synonym: "Porocarcinoma" EXACT [SNOMEDCT_2005_07_31:128685001] xref: EFO:1000229 xref: GARD:7431 xref: MESH:D057090 xref: NCI:C5560 is_a: DOID:299 ! adenocarcinoma is_a: DOID:4921 ! eccrine sweat gland cancer [Term] id: DOID:7567 name: vulvar clear cell hidradenocarcinoma def: "A vulva carcinoma that derives_from sweat glands and is characterized by the presence of clear cells. (DO)" [https://pubmed.ncbi.nlm.nih.gov/8428700/ "DO"] xref: NCI:C40307 is_a: DOID:1294 ! vulva carcinoma created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:7571 name: malignant cystic nephroma synonym: "malignant multilocular cystic nephroma" EXACT [] xref: ICDO:8959/3 is_a: DOID:0080616 ! kidney cortex disease is_a: DOID:263 ! kidney cancer created_by: rgd creation_date: 2017-11-15T00:00:00Z [Term] id: DOID:7574 name: pancreatic intraductal papillary-colloid carcinoma synonym: "intraductal papillary-mucinous carcinoma of pancreas" EXACT [] synonym: "pancreatic intraductal papillary-mucinous carcinoma" EXACT [] xref: MONDO:0004285 xref: NCI:C5725 xref: ORDO:424058 is_a: DOID:4074 ! pancreatic adenocarcinoma is_a: DOID:7575 ! pancreatic intraductal papillary-mucinous neoplasm created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7575 name: pancreatic intraductal papillary-mucinous neoplasm def: "A pancreatic cancer that is characterized as a slow-growing epithelial neoplasm with ductal differentiation that arises from the exocrine pancreas and grows mostly within the pancreatic ducts. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C38342 "DO"] synonym: "pancreatic intraductal neoplasms" BROAD [] xref: NCI:C38342 is_a: DOID:1795 ! malignant exocrine pancreas neoplasm created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:7577 name: pancreatic foamy gland adenocarcinoma xref: NCI:C37256 xref: RDO:9002960 is_a: DOID:4074 ! pancreatic adenocarcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7578 name: breast scirrhous carcinoma def: "A breast carcinoma that is characterized by the presence of hard, fibrous, particularly invasive tumors in which the malignant cells occur singly or in small clusters or strands in dense connective tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3132957/ "DO"] synonym: "infiltrating carcinoma of breast with fibrotic stroma" EXACT [] synonym: "scirrhous carcinoma of breast" RELATED [] xref: NCI:C7362 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:758 name: situs inversus def: "A visceral heterotaxy that is characterized by complete right-to-left reversal of the position of the major thoracic and abdominal organs. (DO)" [https://en.wikipedia.org/wiki/Situs_inversus "DO", https://rarediseases.info.nih.gov/diseases/4883/situs-inversus "DO"] synonym: "complete transposition" EXACT [] synonym: "laterality sequence" EXACT [] synonym: "situs inversus totalis" EXACT [] synonym: "situs inversus viscerum" EXACT [] xref: GARD:4883 xref: ICD10CM:Q89.3 xref: ICD9CM:759.3 xref: MESH:D012857 xref: NCI:C87121 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:7583 name: glottis verrucous carcinoma synonym: "glottic verrucous carcinoma" EXACT [] synonym: "verrucous carcinoma of glottis" EXACT [] xref: NCI:C8189 is_a: DOID:3752 ! larynx verrucous carcinoma is_a: DOID:7031 ! glottis squamous cell carcinoma created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:7584 name: subglottis verrucous carcinoma synonym: "verrucous carcinoma of subglottis" EXACT [] synonym: "verrucous carcinoma of the subglottis" EXACT [] xref: NCI:C8190 is_a: DOID:3737 ! verrucous carcinoma is_a: DOID:7585 ! subglottis squamous cell carcinoma [Term] id: DOID:7585 name: subglottis squamous cell carcinoma def: "Epidermoid carcinoma of the Subglottis." [] synonym: "epidermoid carcinoma of the subglottis" EXACT [] xref: NCI:C8187 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:7764 ! subglottis carcinoma [Term] id: DOID:7586 name: supraglottis verrucous carcinoma synonym: "verrucous carcinoma of Supraglottis" EXACT [NCI2004_11_17:C8191] synonym: "verrucous carcinoma of the supraglottis" EXACT [] xref: NCI:C8191 is_a: DOID:3737 ! verrucous carcinoma is_a: DOID:7587 ! supraglottis squamous cell carcinoma [Term] id: DOID:7587 name: supraglottis squamous cell carcinoma synonym: "Epidermoid carcinoma of the Supraglottis" EXACT [NCI2004_11_17:C4945] xref: NCI:C4945 is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:7763 ! carcinoma of supraglottis [Term] id: DOID:7591 name: gestational ovarian choriocarcinoma def: "A choriocarcinoma of the ovary that develops in the presence of a preceding gestational event. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5520233/ "DO"] xref: NCI:C40442 is_a: DOID:5550 ! choriocarcinoma of ovary [Term] id: DOID:7596 name: asbestos-related lung carcinoma xref: NCI:C27925 xref: RDO:9002009 is_a: DOID:3905 ! lung carcinoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:7598 name: cervical lymphoepithelioma-like carcinoma def: "A cervical squamous cell carcinoma that is characterized by poorly defined islands of undifferentiated squamous cells in a background intensely infi ltrated by lymphocytes. The tumour cells have uniform, vesicular nuclei with prominent nucleoli and moderate amounts of slightly eosinophilic cytoplasm. The cell borders are indistinct. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28217683 "DO"] xref: NCI:C40193 is_a: DOID:3744 ! cervical squamous cell carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7599 name: lymphoepithelioma-like thymic carcinoma synonym: "lymphoepithelioma-like carcinoma of the thymus" EXACT [] xref: NCI:C7998 is_a: DOID:3284 ! thymic carcinoma [Term] id: DOID:76 name: stomach disease def: "A gastrointestinal system disease that is located_in the stomach. (DO)" [http://en.wikipedia.org/wiki/Stomach_disease "DO"] synonym: "Gastric Disease" EXACT [] synonym: "Gastric Diseases" EXACT [] synonym: "gastropathy" EXACT [] synonym: "stomach diseases" EXACT [] synonym: "stomach disorder" EXACT [] xref: EFO:0009608 xref: MESH:D013272 xref: NCI:C26886 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:7600 name: infiltrating bladder lymphoepithelioma-like carcinoma synonym: "EFO:1000302" EXACT [] xref: EFO:1000302 xref: NCI:C39821 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7602 name: conventional osteosarcoma alt_id: DOID:3378 def: "A bone osteosarcoma that is characterized by the presence of osteoid extracellular matrix and that arises from the medullary portion of the bone. It affects the long bones and most commonly, the distal femur, proximal tibia, and proximal humerus. Pain with or without a palpable mass is the most common clinical presentation. (DO)" [https://radiopaedia.org/articles/osteosarcoma "DO"] synonym: "conventional central osteosarcoma" EXACT [] synonym: "COS" EXACT [] synonym: "intracortical osteogenic sarcoma" EXACT [] synonym: "intracortical osteosarcoma" EXACT [] synonym: "Low Grade Central Osteosarcoma" NARROW [] synonym: "medullary osteosarcoma" EXACT [] xref: EFO:1000327 xref: ICDO:9195/3 xref: NCI:C35870 is_a: DOID:3376 ! bone osteosarcoma [Term] id: DOID:7603 name: fibrosarcomatous osteosarcoma synonym: "fibroblastic osteosarcoma" EXACT [] synonym: "fibrosarcomatous osteogenic sarcoma" EXACT [] xref: NCI:C4020 is_a: DOID:7602 ! conventional osteosarcoma [Term] id: DOID:7607 name: chief cell adenoma synonym: "Chief cell adenoma of Parathyroid gland" EXACT [NCI2004_11_17:C4154] xref: ICDO:8321/0 xref: NCI:C4154 xref: RDO:9003924 is_a: DOID:7608 ! parathyroid adenoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7608 name: parathyroid adenoma def: "A parathyroid gland benign neoplam that is located_in the parathyroid. (DO)" [https://en.wikipedia.org/wiki/Parathyroid_adenoma "DO"] synonym: "adenoma of parathyroid" EXACT [] synonym: "adenoma of the parathyroid gland" EXACT [] synonym: "EFO:1001087" EXACT [] synonym: "parathyroid adenomas" EXACT [] synonym: "parathyroid adenoma, somatic" NARROW [] xref: EFO:1001087 xref: NCI:C156757 is_a: DOID:60008 ! parathyroid gland benign neoplasm is_a: DOID:657 ! adenoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7609 name: parathyroid transitional clear cell adenoma synonym: "Clear cell adenoma of the Parathyroid" EXACT [NCI2004_11_17:C7993] xref: NCI:C7993 xref: RDO:9003926 is_a: DOID:7608 ! parathyroid adenoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7610 name: mixed cell type adenoma of parathyroid synonym: "mixed cell type adenoma of the Parathyroid gland" EXACT [NCI2004_11_17:C7994] xref: NCI:C7994 xref: RDO:9003927 is_a: DOID:7608 ! parathyroid adenoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7611 name: parathyroid oncocytic adenoma xref: NCI:C27393 xref: RDO:9003929 is_a: DOID:7608 ! parathyroid adenoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7612 name: childhood intracortical osteosarcoma xref: ICD-O:M9195/3 xref: NCI:C6590 is_a: DOID:7602 ! conventional osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:7613 name: sarcomatosis of the meninges synonym: "meningeal sarcomatosis" EXACT [] synonym: "sarcomatosis of meninges" EXACT [] xref: NCI:C4334 is_a: DOID:7614 ! meninges sarcoma is_a: DOID:7615 ! sarcomatosis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:7614 name: meninges sarcoma synonym: "meningeal sarcoma" EXACT [] synonym: "sarcoma of meninges" EXACT [] xref: NCI:C4073 is_a: DOID:2133 ! central nervous system sarcoma is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:7615 name: sarcomatosis def: "A sarcoma that results_in the formation of numerous sarcomas or located_in various parts of the body. (DO)" [https://www.merriam-webster.com/dictionary/sarcomatosis "DO"] xref: ICDO:8800/9 xref: NCI:C4243 is_a: DOID:1115 ! sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:7631 name: adult embryonal tumor with multilayered rosettes, C19MC-altered def: "An embryonal tumor with multilayered rosettes, C19MC-altered, occurring in adults. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5718304/ "DO"] synonym: "adult ependymoblastoma" EXACT [] xref: NCI:C8290 is_a: DOID:0080903 ! embryonal tumor with multilayered rosettes, C19MC-altered created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7632 name: Cowper gland carcinoma def: "A male reproductive organ cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells and is_located_in the Cowper's gland. (DO)" [http://en.wikipedia.org/wiki/Cowper_gland "DO"] xref: NCI:C39864 is_a: DOID:305 ! carcinoma is_a: DOID:3856 ! male reproductive organ cancer created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:7633 name: macular holes synonym: "macular hole" EXACT [] xref: EFO:1001028 xref: NCI:C34795 is_a: DOID:12514 ! retinal perforation [Term] id: DOID:7634 name: suprasellar meningioma xref: NCI:C6776 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:7635 name: Gasserian ganglion meningioma synonym: "meningioma of Gasserian ganglion" EXACT [] xref: NCI:C6779 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:7639 name: malignant granular cell skin tumor synonym: "malignant granular cell skin neoplasm" EXACT [] synonym: "malignant granular cell skin tumour" EXACT [] synonym: "malignant granular cell tumor of skin" EXACT [] synonym: "malignant granular cell tumour of skin" EXACT [] xref: NCI:C5614 xref: RDO:9002985 is_a: DOID:5274 ! malignant dermis tumor is_a: DOID:9008863 ! Malignant Granular Cell Tumor created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7642 name: cholangiolocellular carcinoma xref: NCI:C41617 xref: RDO:9002874 is_a: DOID:4928 ! intrahepatic cholangiocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7643 name: acantholytic squamous cell skin carcinoma synonym: "acantholytic squamous cell carcinoma of skin" EXACT [] xref: NCI:C4460 is_a: DOID:3151 ! skin squamous cell carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7646 name: multiple spinal canal and spinal cord meningioma synonym: "Multiple meningiomas of the Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5275] xref: NCI:C5275 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:7650 name: pulmonary type ovarian small cell carcinoma def: "An ovarian small cell carcinoma that resembles pulmonary small cell carcinoma of neuroendocrine type. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23896708 "DO"] xref: NCI:C40440 is_a: DOID:6179 ! ovarian small cell carcinoma [Term] id: DOID:7651 name: small-cell carcinoma of the ovary of hypercalcemic type def: "An ovarian small cell carcinoma that is associated with paraneoplastic hypercalcemia. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4939673/ "DO"] synonym: "hypercalcemic type ovarian small cell carcinoma" EXACT [] xref: NCI:C40439 is_a: DOID:6179 ! ovarian small cell carcinoma created_by: rgd creation_date: 2017-10-04T00:00:00Z [Term] id: DOID:7656 name: adult infiltrating astrocytic neoplasm synonym: "adult infiltrating astrocytic tumor" EXACT [] synonym: "adult infiltrating astrocytoma" EXACT [] xref: NCI:C8289 is_a: DOID:3076 ! adult astrocytic tumor created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:7664 name: endometrial mixed adenocarcinoma def: "An endometrial adenocarcinoma that is composed of both type I (endometrioid) and type II (serous or clear cell type) tumors, with at least 10% of each component. (DO)" [http://www.pathologyoutlines.com/topic/uterusmixedcarcinoma.html "DO"] xref: NCI:C40153 is_a: DOID:2870 ! endometrial adenocarcinoma created_by: rgd creation_date: 2017-09-15T00:00:00Z [Term] id: DOID:7665 name: non-gestational ovarian choriocarcinoma def: "An ovarian primitive germ cell tumor that has_material_basis_in trophoblastic cells and develops in the absence of a preceding gestational event. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20090265 "DO"] xref: NCI:C39991 xref: RDO:9005067 is_a: DOID:5351 ! ovarian primitive germ cell tumor is_a: DOID:5550 ! choriocarcinoma of ovary created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:767 name: muscular atrophy def: "Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation." [MESH:D009133] synonym: "Amyotrophia" EXACT [MTHICD9_2006:728.2] synonym: "Muscle Atrophies" EXACT [] synonym: "Muscle Atrophy" EXACT [] synonym: "muscle wasting" EXACT [] synonym: "Muscular Atrophies" EXACT [] synonym: "Neurogenic Muscular Atrophies" EXACT [] synonym: "Neurogenic Muscular Atrophy" EXACT [] synonym: "Neurotrophic Muscular Atrophies" EXACT [] synonym: "Neurotrophic Muscular Atrophy" EXACT [] xref: EFO:0009851 xref: EFO:0009912 xref: MESH:D009133 xref: NCI:C94834 is_a: DOID:423 ! myopathy is_a: DOID:9000165 ! Neuromuscular Manifestations is_a: DOID:9004462 ! Atrophy [Term] id: DOID:7675 name: testicular fibroma xref: NCI:C39951 is_a: DOID:0060087 ! male reproductive organ benign neoplasm created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7676 name: testicular thecoma xref: NCI:C39952 is_a: DOID:0060087 ! male reproductive organ benign neoplasm is_a: DOID:9008813 ! Thecoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7678 name: sphenoid sinus inverted papilloma synonym: "Inverted papilloma of the sphenoid sinus" EXACT [] xref: NCI:C6841 is_a: DOID:3179 ! inverted papilloma is_a: DOID:6947 ! sphenoidal sinus benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7679 name: sphenoid sinus Schneiderian papilloma synonym: "Schneiderian papilloma of the sphenoid sinus" EXACT [] xref: NCI:C6838 is_a: DOID:2615 ! papilloma is_a: DOID:6947 ! sphenoidal sinus benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:768 name: retinoblastoma alt_id: MIM:180200 def: "A retinal cell cancer and malignant neoplasm of retina and neuroblastoma and neuroendocrine tumors that derives_from the tissues of the retina. (DO)" [http://www.cancer.gov/cancertopics/types/retinoblastoma "DO"] synonym: "eye cancer, retinoblastoma" EXACT [] synonym: "neuroblastoma of retina" EXACT [] synonym: "RB" EXACT [] synonym: "RB1" EXACT [] synonym: "RB - retinoblastoma" EXACT [] synonym: "Retinal Glioblastoma" EXACT [] synonym: "Retinal Glioblastomas" EXACT [] synonym: "Retinal Glioma" EXACT [] synonym: "Retinal Gliomas" EXACT [] synonym: "Retinal Neuroblastoma" EXACT [] synonym: "Retinal Neuroblastomas" EXACT [] synonym: "retinoblastomas" EXACT [] synonym: "sporadic retinoblastoma" EXACT [] synonym: "sporadic retinoblastomas" EXACT [] xref: EFO:0002923 xref: EFO:0005717 xref: GARD:7563 xref: ICDO:9510/3 xref: MESH:D012175 xref: NCI:C42596 xref: NCI:C6956 xref: NCI:C7541 xref: ORDO:790 is_a: DOID:7305 ! astroblastoma is_a: DOID:771 ! retinal cell cancer [Term] id: DOID:7684 name: maxillary sinus adenocarcinoma synonym: "adenocarcinoma of maxillary sinus" EXACT [] synonym: "adenocarcinoma of the maxillary sinus" EXACT [] xref: NCI:C6240 is_a: DOID:1357 ! maxillary sinus cancer is_a: DOID:299 ! adenocarcinoma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:7685 name: pancreatic non-invasive intraductal papillary-mucinous carcinoma xref: NCI:C41251 is_a: DOID:7574 ! pancreatic intraductal papillary-colloid carcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7689 name: leptomeninges sarcoma synonym: "Leptomeningeal sarcoma" EXACT [SNOMEDCT_2005_07_31:78303004] synonym: "sarcoma of Leptomeninges" EXACT [NCI2004_11_17:C8312] xref: NCI:C8312 xref: RDO:9004626 is_a: DOID:2133 ! central nervous system sarcoma is_a: DOID:6086 ! malignant leptomeningeal neoplasm created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:769 name: neuroblastoma alt_id: MIM:256700 alt_id: MIM:613015 alt_id: MIM:613016 alt_id: MIM:613017 alt_id: MIM:616792 def: "An autonomic nervous system neoplasm that derives_from immature nerve cells. (DO)" [http://www.cancer.gov/cancertopics/types/neuroblastoma "DO"] synonym: "LIM DOMAIN ONLY-1 POLYMORPHISM" RELATED [] synonym: "NBLST1" RELATED [] synonym: "NBLST4" RELATED [] synonym: "NBLST5" RELATED [] synonym: "NBLST6" RELATED [] synonym: "NBLST7" RELATED [] synonym: "neuroblastomas" EXACT [] synonym: "neuroblastoma susceptibility" RELATED [] synonym: "neuroblastoma, susceptibility to" RELATED [] synonym: "neuroblastoma, susceptibility to, 1" RELATED [] synonym: "neuroblastoma, susceptibility to, 4" RELATED [] synonym: "neuroblastoma, susceptibility to, 5" RELATED [] synonym: "neuroblastoma, susceptibility to, 6" RELATED [] synonym: "neuroblastoma, susceptibility to, 7" RELATED [] xref: EFO:0000621 xref: GARD:7185 xref: ICD-O:M9500/3 xref: MESH:D009447 xref: NCI:C121567 xref: NCI:C21993 xref: NCI:C3270 xref: ORDO:635 is_a: DOID:2621 ! autonomic nervous system neoplasm is_a: DOID:9007058 ! Primitive Peripheral Neuroectodermal Tumors is_a: DOID:9008058 ! Neuroblastic Tumor [Term] id: DOID:7693 name: abdominal aortic aneurysm def: "An aortic aneurysm that is located_in the abdominal aorta. (DO)" [http://en.wikipedia.org/wiki/Aortic_aneurysm "DO"] synonym: "AAA" EXACT [] synonym: "Abdominal Aortic Aneurysms" EXACT [] synonym: "familial abdominal aortic aneurysm" RELATED [] synonym: "sporadic abdominal aortic aneurysm" NARROW [] xref: EFO:0004214 xref: GARD:9181 xref: MESH:D017544 xref: MIM:PS100070 xref: NCI:C27000 is_a: DOID:3627 ! aortic aneurysm [Term] id: DOID:7694 name: bladder urachal adenocarcinoma xref: NCI:C39843 is_a: DOID:3711 ! bladder adenocarcinoma is_a: DOID:5958 ! bladder urachal carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7696 name: lung hilum cancer synonym: "malignant tumor of lung hilum" EXACT [] synonym: "primary malignant neoplasm of hilus of lung" EXACT [] is_a: DOID:1324 ! lung cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:7697 name: pancreatic ACTH hormone producing tumor synonym: "pancreatic ACTH hormone producing tumour" EXACT [] synonym: "pancreatic Adrenocorticotropic Hormone Producing tumor" EXACT [NCI2004_11_17:C27466] synonym: "pancreatic Adrenocorticotropic Hormone Producing tumour" EXACT [] xref: NCI:C27466 xref: RDO:9004597 is_a: DOID:1799 ! islet cell tumor created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:7698 name: non-functioning pancreatic endocrine tumor synonym: "Non-functioning endocrine pancreatic tumors" EXACT [] xref: MESH:C536126 xref: NCI:C45837 xref: RDO:0001571 is_a: DOID:1793 ! pancreatic cancer is_a: DOID:1799 ! islet cell tumor [Term] id: DOID:77 name: gastrointestinal system disease alt_id: DOID:9005183 def: "A disease of anatomical entity that is located_in the gastrointestinal tract. (DO)" [http://en.wikipedia.org/wiki/Human_gastrointestinal_tract "DO"] subset: RGD_JBrowse_slim synonym: "alimentary system disease" EXACT [] synonym: "Cholera Infantum" EXACT [] synonym: "digestive system disease" EXACT [] synonym: "digestive system diseases" EXACT [] synonym: "digestive system disorder" EXACT [] synonym: "Functional Gastrointestinal Disorder" EXACT [] synonym: "functional gastrointestinal disorders" EXACT [] synonym: "gastroenteropathy" EXACT [] synonym: "gastrointestinal disease" EXACT [] synonym: "Gastrointestinal Diseases" EXACT [] synonym: "gastrointestinal disorder" EXACT [] synonym: "GIT disease" EXACT [] xref: EFO:0000405 xref: EFO:0010282 xref: ICD10CM:K92.9 xref: ICD9CM:520-579.99 xref: MESH:D004066 xref: MESH:D005767 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:7707 name: rectum signet ring adenocarcinoma synonym: "Signet Ring cell adenocarcinoma of rectum" EXACT [NCI2004_11_17:C9168] xref: NCI:C9168 xref: RDO:9004663 is_a: DOID:1996 ! rectum adenocarcinoma is_a: DOID:3493 ! signet ring cell adenocarcinoma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:7708 name: perianal skin Paget's disease synonym: "perianal skin Paget disease" EXACT [] xref: NCI:C7476 is_a: DOID:3446 ! anal Paget's disease is_a: DOID:3450 ! cutaneous Paget's disease is_a: DOID:4284 ! anal margin carcinoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:771 name: retinal cell cancer def: "A malignant neoplasm that derives_from the retina. (DO)" [http://www.wrongdiagnosis.com/medical/retinal_cancer.htm "DO"] xref: NCI:C7061 is_a: DOID:4645 ! retinal cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:7713 name: tuberculum sellae meningioma def: "meningioma of the Tuberculum Sellae" [] synonym: "meningioma of the Tuberculum Sellae" EXACT [NCI2004_11_17:C5284] xref: NCI:C5284 is_a: DOID:3643 ! sella turcica neoplasm created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:7716 name: mixed ductal-endocrine carcinoma xref: NCI:C6879 is_a: DOID:3498 ! pancreatic ductal adenocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7717 name: colloid carcinoma of the pancreas xref: NCI:C37214 xref: RDO:9002827 is_a: DOID:3498 ! pancreatic ductal adenocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7718 name: osteoclast-like giant cell neoplasm of the pancreas synonym: "osteoclast-like giant cell neoplasm of pancreas" EXACT [] xref: EFO:1000607 xref: RDO:9002828 is_a: DOID:3498 ! pancreatic ductal adenocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7725 name: epilepsy with generalized tonic-clonic seizures def: "An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28276060 "DO", https://www.ncbi.nlm.nih.gov/pubmed/28842445 "DO"] synonym: "cryptogenic tonic-clonic epilepsies" EXACT [] synonym: "Cryptogenic Tonic Clonic Epilepsy" EXACT [] synonym: "Epilepsy, Tonic-Clonic" EXACT [] synonym: "Familial Tonic-Clonic Epilepsies" EXACT [] synonym: "Familial Tonic Clonic Epilepsy" EXACT [] synonym: "GENERALIZED TONIC-CLONIC SEIZURES" EXACT [] synonym: "Grand Mal Convulsion" EXACT [] synonym: "Grand Mal Convulsions" EXACT [] synonym: "Grand Mal Epilepsy" EXACT [] synonym: "Grand Mal Seizure Disorder" EXACT [] synonym: "Major Epilepsies" EXACT [] synonym: "Major Epilepsy" EXACT [] synonym: "Major Motor Seizure Disorder" EXACT [] synonym: "Symptomatic Tonic-Clonic Epilepsies" EXACT [] synonym: "Symptomatic Tonic Clonic Epilepsy" EXACT [] synonym: "Tonic Clonic Convulsion" EXACT [] synonym: "Tonic Clonic Convulsion Disorder" EXACT [] synonym: "Tonic-Clonic Convulsion Disorders" EXACT [] synonym: "Tonic Clonic Convulsions" EXACT [] synonym: "Tonic Clonic Convulsion Syndrome" EXACT [] synonym: "Tonic-Clonic Convulsion Syndromes" EXACT [] synonym: "Tonic-Clonic Epilepsies" EXACT [] synonym: "tonic-clonic epileptic seizures" EXACT [] synonym: "Tonic Clonic Seizure Disorder" EXACT [] synonym: "Tonic-Clonic Seizure Disorders" EXACT [] synonym: "Tonic Clonic Seizure Syndrome" EXACT [] synonym: "tonic-clonic seizure syndromes" EXACT [] xref: EFO:0007262 xref: MESH:D004830 xref: NCI:C3022 is_a: DOID:0050705 ! adolescence-adult electroclinical syndrome is_a: DOID:9001793 ! Generalized Epilepsy [Term] id: DOID:7729 name: acinar cell cystadenocarcinoma synonym: "pancreatic acinar cell cystadenocarcinoma" EXACT [] xref: ICDO:8551/3 xref: NCI:C5727 is_a: DOID:4073 ! pancreatic cystadenocarcinoma is_a: DOID:5742 ! pancreatic acinar cell adenocarcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7731 name: childhood malignant hemangiopericytoma synonym: "malignant pediatric hemangiopericytoma" EXACT [] xref: ICD-O:M9150/3 xref: NCI:C8090 is_a: DOID:9000235 ! Malignant Hemangiopericytoma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:7732 name: childhood malignant schwannoma synonym: "pediatric MPNST" EXACT [] xref: ICD-O:M9560/3 xref: NCI:C8094 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7733 name: signet ring cell intrahepatic cholangiocarcinoma xref: NCI:C41619 is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:4928 ! intrahepatic cholangiocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:7735 name: pancreatic colloid cystadenoma synonym: "mucinous cystadenoma of pancreas" EXACT [] xref: NCI:C5718 xref: RDO:9004097 is_a: DOID:3918 ! pancreatic cystadenoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:7736 name: retinal telangiectasia alt_id: MIM:300216 def: "A group of rare, idiopathic, congenital retinal vascular anomalies affecting the retinal capillaries. It is characterized by dilation and tortuosity of retinal vessels and formation of multiple aneurysms, with different degrees of leakage and exudates emanating from the blood vessels." [MESH:D058456] synonym: "retinal telangiectases" EXACT [] synonym: "retinal telangiectasis" EXACT [] xref: ICD9CM:362.15 xref: MESH:D058456 is_a: DOID:1272 ! telangiectasis is_a: DOID:2462 ! retinal vascular disease [Term] id: DOID:774 name: retina lymphoma synonym: "lymphoma of retina" EXACT [] synonym: "retinal lymphoma" EXACT [] xref: NCI:C4365 is_a: DOID:4645 ! retinal cancer is_a: DOID:6903 ! eye lymphoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7747 name: childhood extraocular retinoblastoma def: "An extraocular retinoblastoma that effects children. (DO)" [http://www.cancer.gov/cancertopics/pdq/treatment/retinoblastoma/HealthProfessional/page7 "DO"] synonym: "pediatric extraocular retinoblastoma" EXACT [] xref: ICD-O:M9510/3 xref: NCI:C9048 is_a: DOID:4656 ! extraocular retinoblastoma created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:775 name: intraocular lymphoma def: "A form of malignant cancer which occurs within the eyeball." [MESH:D064090] synonym: "intraocular lymphomas" EXACT [] synonym: "primary intraocular lymphoma" EXACT [] xref: MESH:D064090 xref: NCI:C9184 is_a: DOID:0060058 ! lymphoma is_a: DOID:6903 ! eye lymphoma [Term] id: DOID:7750 name: adult brain ependymoma def: "A brain ependymoma that is characterized by tumor in the ependyma of adults located_in spine, located_in intracranial (4th ventricle) and has_material_basis_in abnormally proliferating cells derives_from ependymal cells. (DO)" [https://en.wikipedia.org/wiki/Ependyma "DO", https://en.wikipedia.org/wiki/Ependymoma "DO"] xref: NCI:C9372 xref: RDO:9002180 is_a: DOID:7497 ! brain ependymoma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:7752 name: extrahepatic biliary papillomatosis def: "A biliary papillomatosis located_in an extrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21988050/ "DO"] xref: NCI:C7124 is_a: DOID:5468 ! biliary papillomatosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7756 name: neonatal leukemia def: "A childhood leukemia that occurs during the neonatal period. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C3845 "DO"] xref: NCI:C3845 is_a: DOID:7757 ! childhood leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7757 name: childhood leukemia def: "A leukemia that occurs in children. (DO)" [http://www.nlm.nih.gov/medlineplus/leukemiachildhood.html "DO"] xref: ICD-O:M9800/3 xref: NCI:C4989 is_a: DOID:1240 ! leukemia created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7762 name: childhood multilocular cystic kidney neoplasm def: "A kidney benign neoplasm that encompasses cystic nephroma and cystic partially differentiated nephroblastoma. (DO)" [http://radiographics.rsna.org/content/15/3/653.abstract "DO"] synonym: "benign Multilocular cystic renal tumor" RELATED [] synonym: "childhood renal Wilms cancer" EXACT [] synonym: "pediatric Multilocular cystic renal tumor" EXACT [NCI2004_11_17:C6566] xref: NCI:C6566 xref: RDO:9005136 is_a: DOID:3116 ! kidney benign neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:7763 name: carcinoma of supraglottis synonym: "Supraglottic carcinoma" EXACT [NCI2004_11_17:C5973] xref: NCI:C5973 is_a: DOID:13476 ! supraglottis cancer [Term] id: DOID:7764 name: subglottis carcinoma synonym: "carcinoma of subglottis" EXACT [SNOMEDCT_2005_07_31:372104008] synonym: "subglottic carcinoma" EXACT [] xref: NCI:C5972 is_a: DOID:11472 ! subglottis cancer [Term] id: DOID:7765 name: Coats disease synonym: "Coats' disease" EXACT [] synonym: "Coats' syndrome" EXACT [] synonym: "exudative retinopathy" EXACT [] xref: GARD:6121 xref: ICD10CM:H35.02 xref: ICD9CM:362.12 is_a: DOID:7736 ! retinal telangiectasia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:778 name: delusional disorder def: "A psychotic disorder that involves an uncommon psychiatric condition in which patients present with circumscribed symptoms of non-bizarre delusions, but with the absence of prominent hallucinations and no thought disorder, mood disorder, or significant flattening effect. (DO)" [http://en.wikipedia.org/wiki/Delusional_disorder "DO"] synonym: "delusional disorders" EXACT [] xref: ICD10CM:F22 xref: ICD9CM:297.1 xref: NCI:C94379 is_a: DOID:2468 ! psychotic disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:7787 name: breast osteosarcoma def: "A breast sarcoma that arises from bone. (DO)" [https://en.wikipedia.org/wiki/Osteosarcoma "DO"] synonym: "osteogenic sarcoma of breast" EXACT [] xref: NCI:C5189 is_a: DOID:3017 ! breast sarcoma is_a: DOID:3347 ! osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:7788 name: adult spinal cord ependymoma xref: NCI:C27399 is_a: DOID:4907 ! small intestine carcinoma is_a: DOID:5503 ! spinal cord ependymoma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:780 name: placenta disease def: "A uterine disease that is located_in the placenta. (DO)" [http://en.wikipedia.org/wiki/Placenta_disease "DO"] synonym: "placenta diseases" EXACT [] synonym: "Placenta Disorder" EXACT [] synonym: "placenta disorders" EXACT [] synonym: "Placental Disease" EXACT [] synonym: "placental diseases" EXACT [] xref: EFO:0007441 xref: GARD:7402 xref: ICD10CM:O43 xref: ICD9CM:646.9 xref: MESH:D010922 xref: NCI:C26857 xref: NCI:C27619 xref: NCI:C34941 xref: NCI:C35169 is_a: DOID:345 ! uterine disease is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:7806 name: adult spinal cord glioblastoma multiforme synonym: "adult Spinal Cord Glioblastoma" EXACT [NCI2004_11_17:C27183] synonym: "Glioblastoma multiforme of spinal cord" EXACT [SNOMEDCT_2005_07_31:276829003] xref: NCI:C27183 xref: RDO:9002183 is_a: DOID:3185 ! spinal cord glioma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:7807 name: choroid necrotic melanoma xref: NCI:C6865 is_a: DOID:1752 ! ocular melanoma is_a: DOID:6438 ! malignant choroid melanoma is_a: DOID:7808 ! necrotic uveal melanoma created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:7808 name: necrotic uveal melanoma def: "An uveal melanoma characterized by the presence of tumor cell necrosis. (DO)" [https://www.nature.com/articles/eye2016275 "DO"] xref: NCI:C7990 is_a: DOID:6039 ! uveal melanoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7817 name: mixed astrocytoma-ependymoma-oligodendroglioma xref: NCI:C8272 xref: RDO:9002184 is_a: DOID:5076 ! mixed glioma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:7818 name: petroclival meningioma xref: NCI:C5278 xref: RDO:9005047 is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:7819 name: sphenoorbital meningioma xref: NCI:C5285 xref: RDO:9005048 is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:782 name: renal infectious disease xref: ICD10CM:N15.9 xref: ICD9CM:590 xref: RDO:9003106 is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:7820 name: sphenocavernous meningioma xref: NCI:C5313 xref: RDO:9005049 is_a: DOID:4437 ! skull base meningioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:7824 name: spinal multifocal clear cell meningioma def: "Multifocal Clear cell meningioma of Spine." [] synonym: "Multifocal Clear cell meningioma of Spine" EXACT [NCI2004_11_17:C5287] xref: NCI:C5287 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:7825 name: chronic toxic polyneuropathy xref: MONDO:0004372 xref: NCI:C35603 is_a: DOID:5221 ! chronic polyneuropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:7826 name: adult papillary meningioma xref: NCI:C8293 xref: RDO:9004718 is_a: DOID:5058 ! rhabdoid meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:7827 name: adult extraosseous osteosarcoma def: "An extraosseous osteosarcoma that is located_in the soft tissues without direct attachment to the skeletal system and results in the production of osteoid, bone, or chondroid material. (DO)" [https://pubmed.ncbi.nlm.nih.gov/11786582/ "DO"] xref: NCI:C7925 is_a: DOID:3357 ! extraosseous osteosarcoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:783 name: end stage renal disease def: "A chronic kidney disease is characterized by non-functioning kidneys, as the final stage in chronic kidney disease. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK499861/ "DO"] synonym: "chronic kidney failure" EXACT [] synonym: "end stage kidney disease" EXACT [] synonym: "end stage renal failure" EXACT [] synonym: "ESRD" EXACT [] synonym: "STAGE 5 CHRONIC KIDNEY DISEASE" EXACT [] xref: EFO:0009909 xref: ICD9CM:585.6 xref: MESH:D007676 is_a: DOID:784 ! chronic kidney disease [Term] id: DOID:7839 name: infiltrating nipple syringomatous adenoma def: "A nipple benign neoplasm that is characterized a as locally infiltrative nonmetastasizing tumor of the nipple. (DO)" [https://www.pathologyoutlines.com/topic/breastsyringomatousadenomanipple.html "DO"] xref: NCI:C40363 is_a: DOID:3003 ! nipple benign neoplasm is_a: DOID:657 ! adenoma [Term] id: DOID:784 name: chronic kidney disease def: "A kidney failure that is characterized by the gradual loss of kidney function. (DO)" [https://www.mayoclinic.org/diseases-conditions/chronic-kidney-disease/symptoms-causes/syc-20354521 "DO", https://www.ncbi.nlm.nih.gov/books/NBK499861/ "DO"] synonym: "chronic kidney diseases" EXACT [] synonym: "chronic kidney insufficiencies" EXACT [] synonym: "chronic kidney insufficiency" EXACT [] synonym: "chronic renal disease" EXACT [] synonym: "chronic renal diseases" EXACT [] synonym: "chronic renal failure" EXACT [] synonym: "chronic renal failure syndrome" EXACT [] synonym: "chronic renal insufficiencies" EXACT [] synonym: "chronic renal insufficiency" EXACT [] synonym: "CKD" EXACT [] synonym: "congenital chronic kidney disease" NARROW [] synonym: "CRF" EXACT [] xref: EFO:0003884 xref: EFO:0021433 xref: ICD10CM:N18.9 xref: MESH:D051436 xref: NCI:C9438 is_a: DOID:1074 ! kidney failure [Term] id: DOID:7840 name: pancreatic non-functioning delta cell tumor xref: NCI:C28333 is_a: DOID:4433 ! pancreatic delta cell neoplasm is_a: DOID:7698 ! non-functioning pancreatic endocrine tumor created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:7841 name: childhood embryonal tumor with multilayered rosettes, C19MC-altered def: "An embryonal tumor with multilayered rosettes, C19MC-altered that occurs during childhood. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C115203 "DO"] synonym: "childhood cerebral ependymoblastoma" EXACT [] synonym: "pediatric cerebral ependymoblastoma" EXACT [] xref: ICD-O:M9392/3 xref: NCI:C115203 is_a: DOID:0080903 ! embryonal tumor with multilayered rosettes, C19MC-altered created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7843 name: female breast carcinoma def: "A breast carcinoma that is manifested in the female breast. (DO)" [http://en.wikipedia.org/wiki/Breast_cancer "DO"] synonym: "carcinoma of female breast" EXACT [] synonym: "mammary carcinoma of female breast" EXACT [] xref: NCI:C2918 is_a: DOID:0050671 ! female breast cancer is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:7848 name: interdigitating dendritic cell sarcoma def: "A histiocytic and dendritic cell cancer that effect dendritic cells. (DO)" [http://en.wikipedia.org/wiki/Interdigitating_dendritic_cell_sarcoma "DO"] synonym: "EFO:0007329" EXACT [] synonym: "interdigitating cell sarcoma" EXACT [] synonym: "interdigitating cell sarcomas" EXACT [] xref: EFO:0007329 xref: ICDO:9757/3 xref: MESH:D054739 xref: NCI:C9282 is_a: DOID:2570 ! malignant histiocytic disease is_a: DOID:5621 ! histiocytic and dendritic cell cancer [Term] id: DOID:7849 name: dendritic cell sarcoma def: "A histiocytic and dendritic cell cancer that is mainly located_in lymph nodes. (DO)" [http://findarticles.com/p/articles/mi_m0BUM/is_12_83/ai_n8704912/ "DO"] xref: NCI:C27260 is_a: DOID:1115 ! sarcoma is_a: DOID:5621 ! histiocytic and dendritic cell cancer is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:7851 name: pancreatic intraductal papillary-mucinous adenoma xref: NCI:C41249 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:657 ! adenoma is_a: DOID:7575 ! pancreatic intraductal papillary-mucinous neoplasm created_by: rgd creation_date: 2017-09-08T00:00:00Z [Term] id: DOID:786 name: laryngeal disease def: "Pathological processes involving any part of the LARYNX which coordinates many functions such as voice production, breathing, swallowing, and coughing." [MESH:D007818] synonym: "Dysplasia of Larynx" NARROW [] synonym: "laryngeal diseases" EXACT [] synonym: "laryngeal perichondritides" NARROW [] synonym: "Laryngeal Perichondritis" NARROW [] synonym: "Larynx Disease" EXACT [] synonym: "larynx diseases" EXACT [] xref: EFO:0009673 xref: EFO:1000227 xref: ICD10CM:J38.7 xref: ICD10CM:S12.8 xref: ICD9CM:478.70 xref: MESH:D007818 xref: NCI:C26810 is_a: DOID:9007241 ! Otorhinolaryngologic Diseases is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:7867 name: adult central nervous system germinoma synonym: "germinoma of the adult central nervous system" EXACT [NCI2004_11_17:C5792] xref: NCI:C5792 is_a: DOID:4438 ! central nervous system germinoma [Term] id: DOID:7868 name: maxillary sinus inverted papilloma synonym: "inverted papilloma of the maxillary sinus" EXACT [] xref: NCI:C6840 is_a: DOID:1358 ! maxillary sinus benign neoplasm is_a: DOID:3179 ! inverted papilloma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7875 name: adult xanthogranuloma xref: NCI:C27514 xref: RDO:9004432 is_a: DOID:4330 ! non-Langerhans-cell histiocytosis created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7878 name: uterine corpus atypical polypoid adenomyoma def: "An atypical polypoid adenomyoma that is located_in the uterine corpus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23590013 "DO"] xref: NCI:C40235 xref: RDO:9002566 is_a: DOID:4993 ! atypical polypoid adenomyoma is_a: DOID:4994 ! adenomyoma of uterine corpus created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:7880 name: luteoma def: "An ovarian benign neoplasm characterized by solid proliferations of luteinized cells, resulting in a tumor-like ovarian enlargement that regresses during the puerperium. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5641443/ "DO"] synonym: "Gestational Luteoma" EXACT [] synonym: "gestational luteomas" EXACT [] synonym: "leuteoma of pregnancy" EXACT [] synonym: "Luteinoma" EXACT [] synonym: "Luteoma of Pregnancy" EXACT [] synonym: "luteomas" EXACT [] synonym: "pregnancy luteoma" EXACT [] synonym: "pregnancy luteomas" EXACT [] xref: EFO:1000434 xref: ICDO:8610/0 xref: MESH:D018311 xref: NCI:C40445 is_a: DOID:0060112 ! ovarian benign neoplasm is_a: DOID:192 ! sex cord-gonadal stromal tumor is_a: DOID:9002762 ! Ovarian Neoplasms [Term] id: DOID:7891 name: testicular spermatocytic seminoma is_a: DOID:5834 ! spermatocytoma is_a: DOID:5842 ! testis seminoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:7894 name: mite infestation def: "A parasitic ectoparasitic infectious disease that involves infestation of mites belonging to the family Sarcoptidae, Trombiculidae and Demodicidae. (DO)" [http://en.wikipedia.org/wiki/Mite "DO"] synonym: "acariasis" EXACT [] synonym: "mange" EXACT [] synonym: "mite infestations" EXACT [] xref: ICD10CM:B88.9 xref: ICD9CM:133 xref: MESH:D008924 xref: MONDO:0004389 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:790 name: ocular hypotension def: "Abnormally low intraocular pressure often related to chronic inflammation (uveitis)." [MESH:D015814] synonym: "hypotony of eye" EXACT [] synonym: "ocular hypotony" EXACT [] xref: ICD10CM:H44.4 xref: ICD9CM:360.3 xref: MESH:D015814 xref: NCI:C172147 is_a: DOID:5614 ! eye disease [Term] id: DOID:7902 name: adult extraskeletal myxoid chondrosarcoma alt_id: DOID:6495 def: "An extraskeletal myxoid chondrosarcoma occurring in adults. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35144048/ "DO"] comment: DO: adult myxoid chondrosarcoma Retired NCI concept. synonym: "adult extraosseous chondrosarcoma" EXACT [] synonym: "adult myxoid chondrosarcoma" EXACT [] xref: NCI:C7924 is_a: DOID:4549 ! extraskeletal myxoid chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7903 name: intracranial chondrosarcoma xref: NCI:C5462 xref: RDO:9004151 is_a: DOID:4549 ! extraskeletal myxoid chondrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7907 name: mixed astrocytoma-ependymoma xref: NCI:C8271 xref: RDO:9002185 is_a: DOID:5076 ! mixed glioma created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:7910 name: maxillary sinus squamous cell carcinoma def: "A squamous cell carcinoma that is located_in the maxillary sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25674251 "DO"] synonym: "epidermoid carcinoma of the maxillofacial sinus" EXACT [] xref: NCI:C6064 is_a: DOID:1357 ! maxillary sinus cancer is_a: DOID:1749 ! squamous cell carcinoma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:7912 name: mixed oligodendroglioma-astrocytoma synonym: "EFO:0000630" EXACT [] synonym: "oligoastrocytoma" EXACT [] synonym: "WHO grade II mixed glioma" EXACT [NCI2004_11_17:C4050] xref: EFO:0000630 xref: NCI:C129323 xref: NCI:C4050 xref: RDO:9004137 is_a: DOID:5076 ! mixed glioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7915 name: cervical spinal canal and spinal cord meningioma synonym: "meningioma of the cervical Spinal canal and Spinal Cord" EXACT [] xref: NCI:C5296 is_a: DOID:1140 ! spinal canal and spinal cord meningioma [Term] id: DOID:7921 name: mediastinal psammomatous neurilemmoma def: "A mediastinal neurilemmoma characterized by the presence of psammoma bodies. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6636 "DO"] synonym: "benign mediastinal psammomatous neurilemmoma" EXACT [] synonym: "benign psammomatous schwannoma of mediastinum" EXACT [] xref: NCI:C6636 is_a: DOID:6175 ! mediastinal neurilemmoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7926 name: epithelial malignant thymoma synonym: "EFO:1000583" EXACT [] synonym: "epithelial thymoma" EXACT [] synonym: "squamoid thymoma" EXACT [] synonym: "well differentiated thymic carcinoma" EXACT [] xref: EFO:1000583 xref: NCI:C7997 is_a: DOID:3282 ! thymoma type B created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7927 name: malignant type A thymoma synonym: "Thymoma, medullary, malignant" EXACT [] xref: NCI:C7999 xref: RDO:9003749 is_a: DOID:3279 ! spindle cell thymoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:7928 name: testis refractory cancer synonym: "Refractory testicular carcinoma" EXACT [NCI2004_11_17:C9077] xref: NCI:C9077 is_a: DOID:5556 ! testicular malignant germ cell cancer [Term] id: DOID:7930 name: glandular-alveolar pattern testicular yolk sac tumor xref: NCI:C39926 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:7936 name: refractory T lymphoblastic leukemia/lymphoma synonym: "precursor T-lymphoblastic lymphoma/leukemia refractory" EXACT [] xref: NCI:C8696 is_a: DOID:712 ! refractory hematologic cancer created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:7941 name: Barrett's adenocarcinoma synonym: "adenocarcinoma Arising in Barrett's Mucosa" EXACT [] synonym: "Barrett adenocarcinoma" EXACT [] synonym: "EFO:1001939" EXACT [] xref: EFO:1001939 xref: NCI:C7027 xref: RDO:9002303 is_a: DOID:4914 ! esophagus adenocarcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:7945 name: adult central nervous system mixed germ cell tumor def: "A central nervous system adult germ cell tumor that develops from misfolding and misplacement of embryonic cells into the lateral mesoderm, causing these cells to become entrapped in different areas of the brain, has_material_basis_in abnormally proliferating cells derives_from germ cells. (DO)" [https://www.cancer.gov/types/brain/patient/child-cns-germ-cell-treatment-pdq "DO"] xref: NCI:C27402 is_a: DOID:5349 ! central nervous system adult germ cell tumor created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:7949 name: stroma-dominant and stroma-poor composite ganglioneuroblastoma xref: NCI:C42060 is_a: DOID:5193 ! nodular ganglioneuroblastoma [Term] id: DOID:7951 name: Schwannian stroma-rich and stroma-poor composite ganglioneuroblastoma xref: NCI:C42059 is_a: DOID:5193 ! nodular ganglioneuroblastoma [Term] id: DOID:7953 name: nipple duct carcinoma def: "A nipple carcinoma that is located_in the nipple duct. (DO)" [http://www.cancer.gov/dictionary?CdrID=45963 "DO"] xref: NCI:C27234 xref: RDO:9001815 is_a: DOID:6629 ! nipple carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:7958 name: sarcomatoid penile squamous cell carcinoma synonym: "sarcomatous carcinoma of the penis" EXACT [] xref: NCI:C6984 is_a: DOID:5518 ! penis squamous cell carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:7959 name: duodenal gastrinoma synonym: "Duodenal Gastrin-Producing Neuroendocrine Tumor" EXACT [] synonym: "duodenal G-cell gastrin producing tumor" EXACT [] synonym: "gastrinoma of duodenum" EXACT [] synonym: "malignant duodenal gastrinoma" EXACT [] xref: EFO:1000224 xref: NCI:C5731 is_a: DOID:10021 ! duodenum cancer is_a: DOID:4434 ! small intestine neuroendocrine neoplasm is_a: DOID:5577 ! gastrinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:7960 name: malignant spiradenoma synonym: "malignant eccrine spiradenoma" EXACT [] xref: NCI:C5117 is_a: DOID:4921 ! eccrine sweat gland cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:7961 name: cervical non-keratinizing squamous cell carcinoma def: "A cervical squamous cell carcinoma that is characterized by polygonal squamous cells growing in sheets or nests but keratin pearls are not present. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3702072/ "DO"] xref: NCI:C40188 is_a: DOID:3744 ! cervical squamous cell carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7962 name: tamoxifen-related endometrial lesion def: "An endometrial disease that is caused by tamoxifen exposure. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC494940/ "DO"] xref: NCI:C40159 is_a: DOID:1005 ! endometrial disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:7967 name: lipid-cell variant infiltrating bladder urothelial carcinoma xref: NCI:C39828 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7968 name: plasmacytoid variant infiltrating bladder urothelial carcinoma xref: NCI:C39823 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7969 name: nested variant infiltrating bladder urothelial carcinoma xref: NCI:C39819 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7971 name: microcystic variant infiltrating bladder urothelial carcinoma xref: NCI:C39820 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7972 name: lymphoma-like variant infiltrating bladder urothelial carcinoma xref: NCI:C39822 is_a: DOID:6477 ! invasive bladder transitional cell carcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:7983 name: breast malignant eccrine spiradenoma def: "A breast cancer that arises_from cutaneous sweat glands and is characterized by a focus of benign spiradenoma within or adjacent to the malignant tumor, as evidenced by increased mitotic rate, necrosis, nuclear atypia, pleomorphism, and hyperchromasia, loss of nested and trabecular growth patterns, and absence of a dual cell population. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4601958/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/10770427 "DO"] synonym: "malignant Eccrine Spiradenoma of the breast" EXACT [NCI2004_11_17:C5180] xref: NCI:C5180 xref: RDO:9001816 is_a: DOID:1612 ! breast cancer created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:7984 name: sclerosing breast papilloma def: "A breast duct papilloma that is characterized by a central area of scarring and elastosis, derived from an obliterated duct. (DO)" [http://www.archivesofpathology.org/doi/full/10.5858/arpa.2015-0525-RA?code=coap-site#_i51 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25650849 "DO"] xref: NCI:C27944 is_a: DOID:1626 ! breast duct papilloma [Term] id: DOID:7986 name: cerebral falx meningioma synonym: "falcine meningioma" EXACT [] xref: NCI:C5267 is_a: DOID:4436 ! anterior cranial fossa meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:799 name: varicose veins alt_id: MIM:192200 def: "A vein disease that is characterized by swollen, twisted veins visible just under the surface of the skin. (DO)" [http://www.nlm.nih.gov/medlineplus/varicoseveins.html "DO", https://www.nhlbi.nih.gov/health/health-topics/topics/vv/ "DO"] synonym: "Varices" EXACT [] synonym: "Varicose Vein" EXACT [] synonym: "Varix" EXACT [] synonym: "venous ectasia" EXACT [] synonym: "venous varices" EXACT [] xref: ICD10CM:I83.90 xref: MESH:D014648 xref: NCI:C35114 is_a: DOID:178 ! vascular disease is_a: DOID:866 ! vein disease [Term] id: DOID:7994 name: central nervous system osteosarcoma xref: NCI:C7002 is_a: DOID:2133 ! central nervous system sarcoma is_a: DOID:3347 ! osteosarcoma is_a: DOID:502 ! central nervous system mesenchymal non-meningothelial tumor created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:7996 name: familial glomangioma xref: NCI:C5350 is_a: DOID:2436 ! glomangioma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:7997 name: thyrotoxicosis def: "A thyroid gland disease that is characterized by excess thyroid hormone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22394559 "DO"] synonym: "thyrotoxicoses" EXACT [] xref: EFO:0009190 xref: ICD10CM:E05.9 xref: ICD9CM:242 xref: MESH:D013971 xref: NCI:C61469 is_a: DOID:7998 ! hyperthyroidism [Term] id: DOID:7998 name: hyperthyroidism def: "A thyroid gland disease that involves an over production of thyroid hormone. (DO)" [https://www.niddk.nih.gov/health-information/endocrine-diseases/hyperthyroidism "DO"] synonym: "hyperthyroid" EXACT [] synonym: "hyperthyroids" EXACT [] synonym: "overactive thyroid" EXACT [] synonym: "primary hyperthyroidism" EXACT [] xref: EFO:0009189 xref: MESH:D006980 xref: NCI:C113145 xref: NCI:C3123 xref: ORDO:99819 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:8000 name: frontal convexity meningioma xref: NCI:C5292 xref: RDO:9004708 is_a: DOID:6114 ! cerebral convexity meningioma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:8002 name: supraglottis neoplasm synonym: "neoplasm of supraglottis" EXACT [] synonym: "supraglottic tumor" EXACT [] xref: NCI:C6793 is_a: DOID:2598 ! laryngeal benign neoplasm created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:8003 name: alveoli adenoma synonym: "adenoma of alveoli" EXACT [] synonym: "adenoma of the alveoli" EXACT [] synonym: "alveolar adenoma" EXACT [] synonym: "alveolar adenoma (morphologic abnormality)" EXACT [] xref: NCI:C4140 is_a: DOID:3906 ! bronchial benign neoplasm is_a: DOID:5386 ! lung adenoma created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:8006 name: skin meningioma synonym: "primary meningioma of the skin" EXACT [] xref: NCI:C5277 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:3165 ! skin benign neoplasm is_a: DOID:3565 ! meningioma is_a: DOID:4159 ! skin cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:8007 name: Pancoast tumor def: "A condition caused by an apical lung tumor (Pancoast tumor) with involvement of the nearby vertebral column and the BRACHIAL PLEXUS. Symptoms include pain in the shoulder and the arm, and atrophy of the hand." [] synonym: "EFO:1001080" EXACT [] synonym: "malignant superior sulcus tumor" EXACT [] synonym: "malignant Superior Sulcus tumour" EXACT [] synonym: "Pancoast's syndrome" EXACT [] synonym: "Pancoast's tumour" EXACT [] synonym: "Pancoasts Syndrome" EXACT [] synonym: "Pancoast syndrome" EXACT [] synonym: "Pancoast tumour" EXACT [] synonym: "pulmonary sulcus tumor" EXACT [] synonym: "pulmonary sulcus tumour" EXACT [] synonym: "superior pulmonary sulcus syndrome" EXACT [] xref: EFO:1001080 xref: MESH:D010178 xref: NCI:C27710 xref: NCI:C55815 xref: NCI:C7527 is_a: DOID:1324 ! lung cancer is_a: DOID:225 ! syndrome is_a: DOID:9005172 ! Lung Neoplasms [Term] id: DOID:8009 name: penis mixed squamous cell carcinoma xref: NCI:C39959 xref: RDO:9002249 is_a: DOID:5518 ! penis squamous cell carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:801 name: hemarthrosis def: "Bleeding into the joints. It may arise from trauma or spontaneously in patients with hemophilia." [MESH:D006395] synonym: "haemarthrosis of shoulder joint" NARROW [] synonym: "haemarthrosis of the ankle and foot" NARROW [] synonym: "haemarthrosis of the pelvic region and thigh" NARROW [] synonym: "Hemarthroses" EXACT [] synonym: "hemarthrosis involving ankle and foot" NARROW [] synonym: "hemarthrosis involving forearm" NARROW [] synonym: "hemarthrosis involving hand" NARROW [] synonym: "hemarthrosis involving lower leg" NARROW [] synonym: "hemarthrosis involving pelvic region and thigh" NARROW [] synonym: "hemarthrosis involving shoulder region" NARROW [] synonym: "hemarthrosis involving upper arm" NARROW [] synonym: "hemarthrosis of ankle and/or foot" NARROW [] synonym: "hemarthrosis of forearm" NARROW [] synonym: "hemarthrosis of hand" NARROW [] synonym: "hemarthrosis of lower leg" NARROW [] synonym: "hemarthrosis of shoulder" NARROW [] synonym: "hemarthrosis of shoulder region" NARROW [] synonym: "hemarthrosis of the ankle and/or foot" NARROW [] synonym: "hemarthrosis of the ankle and foot" NARROW [] synonym: "hemarthrosis of the forearm" NARROW [] synonym: "hemarthrosis of the hand" NARROW [] synonym: "hemarthrosis of the lower leg" NARROW [] synonym: "hemarthrosis of the pelvic region and thigh" NARROW [] synonym: "hemarthrosis of the shoulder region" NARROW [] synonym: "hemarthrosis of the upper arm" NARROW [] synonym: "hemarthrosis of upper arm" NARROW [] xref: EFO:1001344 xref: ICD10CM:M25.0 xref: ICD9CM:719.1 xref: MESH:D006395 is_a: DOID:381 ! arthropathy is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:8012 name: benign pericardial teratoma synonym: "mature teratoma of pericardium" EXACT [] xref: MONDO:0004432 xref: NCI:C6744 is_a: DOID:0050829 ! pericardium disease is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:0060097 ! thoracic benign neoplasm is_a: DOID:5566 ! mature teratoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:8013 name: penis papillary carcinoma def: "A papillary carcinoma that is located_in the penis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22367299 "DO"] synonym: "squamous carcinoma of penis, papillary type" EXACT [] xref: NCI:C6983 is_a: DOID:3113 ! papillary carcinoma is_a: DOID:5518 ! penis squamous cell carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:8020 name: glomangiomyoma xref: ICDO:8713/0 xref: NCI:C4223 is_a: DOID:5238 ! benign perivascular tumor created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:8022 name: liver fibrosarcoma def: "A fibrosarcoma of soft tissue and sarcoma of liver that is located_in the liver. (DO)" [http://en.wikipedia.org/wiki/Fibrosarcoma "DO"] xref: NCI:C5832 is_a: DOID:270 ! liver sarcoma is_a: DOID:3355 ! fibrosarcoma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:8023 name: myxoid liposarcoma of the ovary def: "A myxoid liposarcoma that is located_in the ovary. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20407326 "DO"] synonym: "Myxoid Liposarcoma of Ovary" EXACT [NCI2004_11_17:C5235] xref: NCI:C5235 xref: RDO:9004291 is_a: DOID:5363 ! myxoid liposarcoma is_a: DOID:5697 ! liposarcoma of the ovary created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8025 name: gastric signet ring cell adenocarcinoma synonym: "EFO:1000524" EXACT [] synonym: "Signet Ring cell adenocarcinoma of the stomach" EXACT [] xref: EFO:1000524 xref: NCI:C5250 xref: RDO:9002474 is_a: DOID:3493 ! signet ring cell adenocarcinoma is_a: DOID:6217 ! gastric diffuse adenocarcinoma created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:8029 name: sporadic breast cancer def: "A breast carcinoma that occurs in people who do not have a family history of that cancer or an inherited change in their DNA that would increase their risk for that cancer. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/sporadic-cancer "DO"] xref: NCI:C7566 is_a: DOID:3459 ! breast carcinoma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:8030 name: periocular meningioma def: "A meningioma that affects the periocular region. (NCI)" [] xref: MONDO:0004439 xref: NCI:C6777 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:8031 name: pineal region meningioma synonym: "pineal meningioma" EXACT [] xref: NCI:C6756 is_a: DOID:3565 ! meningioma is_a: DOID:5032 ! pineal gland cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:8036 name: childhood ovarian embryonal carcinoma def: "An ovarian embryonal carcinoma that occurs in childhood. (DO)" [http://en.wikipedia.org/wiki/Embryonal_carcinoma#Ovarian_embryonal_carcinoma "DO"] synonym: "childhood embryonal carcinoma of the ovary" EXACT [] synonym: "pediatric embryonal carcinoma of ovary" EXACT [] xref: NCI:C6546 xref: RDO:9004158 is_a: DOID:5681 ! ovarian embryonal carcinoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8042 name: testis polyembryoma synonym: "Polyembryoma of testis" EXACT [NCI2004_11_17:C40962] xref: NCI:C40962 is_a: DOID:5556 ! testicular malignant germ cell cancer [Term] id: DOID:8043 name: chest wall parachordoma def: "A parachordoma arising from the chest wall. (DO)" [https://pubmed.ncbi.nlm.nih.gov/24135242/ "DO"] synonym: "parachordoma of the chest wall" EXACT [] xref: NCI:C6720 is_a: DOID:2647 ! parachordoma is_a: DOID:6758 ! chest wall lymphoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:8050 name: bladder tubulo-cystic clear cell adenocarcinoma xref: NCI:C39847 is_a: DOID:5306 ! bladder clear cell adenocarcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8051 name: bladder papillary clear cell adenocarcinoma xref: NCI:C39848 is_a: DOID:3112 ! papillary adenocarcinoma is_a: DOID:5306 ! bladder clear cell adenocarcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8057 name: olfactory groove meningioma synonym: "meningioma of the olfactory groove" EXACT [] xref: NCI:C6771 is_a: DOID:4436 ! anterior cranial fossa meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:8058 name: pituitary stalk meningioma synonym: "meningioma of the pituitary stalk" EXACT [] xref: NCI:C5311 is_a: DOID:3565 ! meningioma is_a: DOID:3643 ! sella turcica neoplasm created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:8060 name: frontal sinus inverted papilloma synonym: "inverted papilloma of the frontal sinus" EXACT [] xref: NCI:C6842 is_a: DOID:1361 ! frontal sinus benign neoplasm is_a: DOID:3179 ! inverted papilloma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8068 name: intraductal breast myoepitheliosis def: "A breast myoepitheliosis that is characterized by multifocal, often microscopic proliferation of myoepithelial cells in small ducts. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1709559 "DO"] xref: NCI:C40387 is_a: DOID:7521 ! breast myoepitheliosis created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:807 name: carotid artery occlusion synonym: "Occlusion and stenosis of carotid artery" EXACT [] xref: ICD9CM:433.10 xref: RDO:9002143 is_a: DOID:3407 ! carotid artery disease is_a: DOID:5976 ! occlusion precerebral artery created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:8072 name: sarcomatous intrahepatic cholangiocarcinoma xref: NCI:C41620 xref: RDO:9002878 is_a: DOID:4928 ! intrahepatic cholangiocarcinoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8078 name: childhood central nervous system germinoma xref: NCI:C27406 is_a: DOID:4438 ! central nervous system germinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8081 name: myxomatous pattern testicular yolk sac tumor xref: NCI:C39929 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:8082 name: cellular congenital mesoblastic nephroma xref: NCI:C39815 is_a: DOID:4773 ! congenital mesoblastic nephroma [Term] id: DOID:8083 name: classic congenital mesoblastic nephroma xref: NCI:C39814 is_a: DOID:4773 ! congenital mesoblastic nephroma [Term] id: DOID:809 name: cocaine abuse def: "A substance abuse that involves the recurring use of cocaine despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Cocaine_Abuse "DO"] synonym: "cocaine use disorder" EXACT [] xref: ICD10CM:F14.1 xref: ICD9CM:305.6 is_a: DOID:302 ! substance abuse is_a: DOID:9005632 ! Cocaine-Related Disorders created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8093 name: maxillary sinus Schneiderian papilloma synonym: "Schneiderian papilloma of the maxillary sinus" EXACT [] xref: NCI:C6839 is_a: DOID:1358 ! maxillary sinus benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8096 name: bladder mixed adenocarcinoma xref: NCI:C39839 is_a: DOID:3711 ! bladder adenocarcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:8097 name: bladder hepatoid adenocarcinoma xref: NCI:C39838 is_a: DOID:0060534 ! hepatoid adenocarcinoma is_a: DOID:3711 ! bladder adenocarcinoma created_by: rgd creation_date: 2017-09-12T00:00:00Z [Term] id: DOID:8102 name: fetal adenoma synonym: "Microfollicular adenoma" EXACT [] xref: NCI:C4160 is_a: DOID:6204 ! follicular adenoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8104 name: vaginal tubulovillous adenoma alt_id: DOID:6809 def: "A vaginal adenoma that is a polyp that resembles colorectal tubulovillous adenoma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23202776 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25672089 "DO"] synonym: "vaginal tubular adenoma" EXACT [] xref: NCI:C40258 is_a: DOID:5402 ! vaginal adenoma created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:8105 name: extrahepatic bile duct cystadenoma def: "A bile duct cystadenoma located_in an extrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/25830005/ "DO"] synonym: "cystadenoma of the extrahepatic bile duct" EXACT [] xref: NCI:C5851 is_a: DOID:5384 ! bile duct cystadenoma is_a: DOID:5438 ! extrahepatic bile duct adenoma created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:8106 name: cellular phase chronic idiopathic myelofibrosis xref: NCI:C41237 is_a: DOID:4971 ! myelofibrosis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:8108 name: fibroepithelial polyp of urethra synonym: "urethral Fibroepithelial polyp" EXACT [NCI2004_11_17:C6170] xref: EFO:1000700 xref: NCI:C6170 xref: RDO:9003692 is_a: DOID:6873 ! skin tag is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8109 name: nephrogenic adenoma of the urethra synonym: "nephrogenic adenoma of urethra" EXACT [] xref: NCI:C7416 is_a: DOID:730 ! urethral benign neoplasm is_a: DOID:7334 ! nephrogenic adenoma created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:811 name: lipodystrophy def: "A connective tissue disease that is characterized by marked reduction, absence, and/or the redistribution of adipose tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25690482 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25833179 "DO"] synonym: "lipodystrophies" EXACT [] xref: EFO:1000727 xref: ICD9CM:272.6 xref: MESH:D008060 xref: NCI:C97093 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:65 ! connective tissue disease is_a: DOID:9002435 ! Metabolic Skin Diseases [Term] id: DOID:8110 name: periampullary adenocarcinoma def: "Periampullary adenocarcinoma is a cancer that forms near the ampulla of Vater." [] xref: NCI:C27322 xref: RDO:9000002 is_a: DOID:3502 ! ampulla of Vater adenocarcinoma created_by: slaulederkind creation_date: 2010-03-19T00:00:00Z [Term] id: DOID:8117 name: neuronitis def: "A central nervous system disease that is characterized by neuron inflammation. (DO)" [https://en.wikipedia.org/wiki/Neuroinflammation "DO"] xref: NCI:C34847 is_a: DOID:331 ! central nervous system disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8118 name: mature gastric teratoma def: "A mature teratoma that has_material_basis_in gastric tissue. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22953284 "DO"] synonym: "mature teratoma of stomach" EXACT [] xref: NCI:C5260 is_a: DOID:5561 ! gastric teratoma is_a: DOID:5566 ! mature teratoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:8119 name: anal canal Paget's disease synonym: "anal canal Paget disease" EXACT [] synonym: "Paget's disease of anal canal" EXACT [] synonym: "Paget's disease of the anal canal" EXACT [] xref: NCI:C7477 is_a: DOID:3450 ! cutaneous Paget's disease is_a: DOID:3692 ! anal canal adenocarcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:8122 name: pseudovascular skin squamous cell carcinoma xref: NCI:C27542 is_a: DOID:3151 ! skin squamous cell carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:8125 name: osteochondrosis def: "An ischemic bone disease that results_in necrosis followed by regrowth in children and teens located_in bone. (DO)" [http://medical-dictionary.thefreedictionary.com/osteochondrosis "DO"] synonym: "apophysitis" EXACT [] synonym: "epiphyseal necrosis" EXACT [] synonym: "epiphysitis" EXACT [] synonym: "Juvenile Osteochondrosis" EXACT [] synonym: "Koehler's Disease" EXACT [] synonym: "Koehler disease" EXACT [] synonym: "Koehlers Disease" EXACT [] synonym: "navicular osteochondroses" EXACT [] synonym: "Navicular Osteochondrosis" EXACT [] synonym: "osteochondritis juvenilis" EXACT [] synonym: "osteochondroses" EXACT [] xref: EFO:0008575 xref: EFO:0008577 xref: ICD10CM:M92 xref: ICD10CM:M93.9 xref: ICD9CM:732.6 xref: MESH:D055034 xref: NCI:C34879 is_a: DOID:0080001 ! bone disease is_a: DOID:0080008 ! ischemic bone disease [Term] id: DOID:813 name: septic arthritis def: "An arthritis that involves infection by a pathogen located_in joint. (DO)" [http://en.wikipedia.org/wiki/Septic_arthritis "DO", http://www.hmc.psu.edu/healthinfo/s/septicarthritis.htm "DO", http://www.mayoclinic.com/health/bone-and-joint-infections/DS00545 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000430.htm "DO"] synonym: "Bacterial Arthritides" EXACT [] synonym: "Bacterial Arthritis" EXACT [] synonym: "infectious arthritis" EXACT [] synonym: "Suppurative Arthritis" EXACT [] synonym: "viral arthritis" EXACT [] xref: EFO:1001351 xref: GARD:6781 xref: ICD10CM:M00 xref: ICD9CM:711.90 xref: ICD9CM:711.91 xref: ICD9CM:711.92 xref: ICD9CM:711.93 xref: ICD9CM:711.94 xref: ICD9CM:711.95 xref: ICD9CM:711.96 xref: ICD9CM:711.97 xref: MESH:D001170 xref: NCI:C26700 is_a: DOID:848 ! arthritis [Term] id: DOID:8130 name: breast columnar cell mucinous carcinoma alt_id: DOID:5996 def: "A breast mucinous carcinoma that is characterized by tall columnar cells with basal, bland nuclei, intracytoplasmic and extracytoplasmic mucin and is grossly solid. (DO)" [http://www.pathologyoutlines.com/topic/breastmalignantmucinouscystadenocarcinoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/29658333 "DO"] synonym: "blunt duct adenosis of breast" EXACT [] synonym: "Columnar Cell Change of the Breast" EXACT [] xref: NCI:C40355 is_a: DOID:3610 ! breast mucinous carcinoma created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:8133 name: epiglottis cancer synonym: "epiglottic cancer" EXACT [] synonym: "malignant neoplasm of epiglottis" EXACT [] synonym: "malignant tumor of epiglottis" EXACT [] xref: ICD10CM:C10.1 xref: ICD9CM:146.4 xref: NCI:C35697 xref: NCI:C4836 is_a: DOID:13476 ! supraglottis cancer created_by: rgd creation_date: 2017-09-22T00:00:00Z [Term] id: DOID:8135 name: gallbladder lymphoma synonym: "lymphoma of the gallbladder" EXACT [] xref: NCI:C5734 xref: RDO:9003185 is_a: DOID:0060058 ! lymphoma is_a: DOID:3121 ! gallbladder cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:8137 name: thymus clear cell carcinoma def: "Clear cell carcinoma of the Thymus" [] synonym: "Clear cell carcinoma of the Thymus" EXACT [NCI2004_11_17:C6462] xref: NCI:C6462 is_a: DOID:3284 ! thymic carcinoma created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:8138 name: thymus sarcomatoid carcinoma synonym: "EFO:1000577" EXACT [] synonym: "thymic carcinosarcoma" EXACT [] xref: EFO:1000577 xref: NCI:C6463 is_a: DOID:4015 ! sarcomatoid carcinoma is_a: DOID:5530 ! thymus squamous cell carcinoma created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:8140 name: adrenal gland ganglioneuroblastoma xref: NCI:C7646 is_a: DOID:4163 ! ganglioneuroblastoma is_a: DOID:5718 ! adrenal neuroblastoma created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8144 name: pregerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma synonym: "CLL/SLL with Unmutated IGVH" EXACT [] xref: NCI:C37204 is_a: DOID:6354 ! chronic lymphocytic leukemia/small lymphocytic lymphoma created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:8149 name: malignant childhood germ cell neoplasm synonym: "malignant pediatric germ cell tumor" EXACT [] xref: NCI:C6541 is_a: DOID:6053 ! childhood germ cell cancer created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:8150 name: pancreatic invasive intraductal papillary-mucinous carcinoma xref: NCI:C5726 is_a: DOID:7574 ! pancreatic intraductal papillary-colloid carcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:8151 name: appendiceal L-cell glucagon-like peptide producing tumor synonym: "appendiceal L-cell glucagon-like peptide producing tumour" EXACT [] synonym: "malignant appendiceal glucagonoma" EXACT [] synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumor" EXACT [] synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumour" EXACT [] xref: NCI:C27445 is_a: DOID:11239 ! appendix cancer created_by: rgd creation_date: 2017-09-25T00:00:00Z [Term] id: DOID:8153 name: fibroosseous pseudotumor of digits synonym: "Fibroosseous Digital Pseudotumor" EXACT [] xref: NCI:C6573 is_a: DOID:0060094 ! bone benign neoplasm created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8158 name: complement component 5 deficiency alt_id: MIM:609536 def: "A complement deficiency that is characterized by susceptibility to recurrent bacterial infections especially to infections of enveloped organisms, and has_material_basis_in mutation in the complement component 5 (C5) gene on chromosome 9q33.2 that encodes the fifth component of complenent, a part of the innate immune system. (DO)" [http://omim.org/entry/609536 "DO", https://ghr.nlm.nih.gov/gene/C5 "DO"] synonym: "C5D" EXACT [] synonym: "C5 deficiency" EXACT [] synonym: "C5-RELATED CONDITION" BROAD [] synonym: "dysfunction of the fifth component of complement (C5)" EXACT [] synonym: "Leiner disease" EXACT [] xref: MESH:C537005 xref: NCI:C9469 is_a: DOID:626 ! complement deficiency [Term] id: DOID:8161 name: oncocytic carcinoma of the thyroid def: "A thyroid gland follicular carcinoma that is characterized by the presence of large cells with eosinophilic granular cytoplasm and pleomorphic nuclei with prominent, eosinophilic nucleoli. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C4946 "DO"] synonym: "follicular thyroid cancer, Hurthle cell type" EXACT [] synonym: "Hurthle cell carcinoma of the thyroid" EXACT [] synonym: "Hurthle cell thyroid neoplasia" EXACT [] synonym: "Oncocytic (Hurthle-cell) carcinoma" EXACT [] synonym: "thyroid gland Hurthle cell carcinoma" EXACT [] synonym: "thyroid gland oncocytic carcinoma" EXACT [] synonym: "thyroid Hurthle cell carcinoma" EXACT [] xref: EFO:1000592 xref: MESH:C536913 xref: MIM:607464 xref: MONDO:0006465 xref: NCI:C4946 is_a: DOID:3962 ! follicular thyroid carcinoma is_a: DOID:5389 ! oxyphilic adenoma [Term] id: DOID:8162 name: thyroid Hurthle cell adenoma synonym: "benign oncocytoma of the thyroid" EXACT [] xref: NCI:C6042 is_a: DOID:6204 ! follicular adenoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8167 name: gallbladder melanoma synonym: "malignant melanoma of gallbladder" EXACT [] xref: NCI:C5735 xref: RDO:9001863 is_a: DOID:1909 ! melanoma is_a: DOID:3121 ! gallbladder cancer created_by: rgd creation_date: 2017-09-05T00:00:00Z [Term] id: DOID:817 name: interstitial myocarditis xref: NCI:C35786 is_a: DOID:820 ! myocarditis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8170 name: fibroepithelial polyp of the anus synonym: "Fibroepithelial polyp of anus" EXACT [NCI2004_11_17:C5604] xref: EFO:1000699 xref: NCI:C5604 xref: RDO:9003691 is_a: DOID:3128 ! anus disease is_a: DOID:6873 ! skin tag created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8177 name: endocervical type cervical adenomyoma def: "A cervical adenomyoma that is located_in the endocervix and is characterized by a well circumscribed neoplasm composed of irregularly shaped, benign endocervical-type glands, admixed with myomatous smooth muscle. (DO)" [http://www.pathologyoutlines.com/topic/cervixadenomyoma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23805464 "DO"] xref: NCI:C40232 is_a: DOID:4995 ! cervical adenomyoma [Term] id: DOID:8178 name: endometrial type cervical adenomyoma def: "A cervical adenomyoma that is characterized by glands and cysts lined by a single layer of endocervical-type mucinous epithelium admixed with smooth muscle. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8685218 "DO"] xref: NCI:C40233 is_a: DOID:4995 ! cervical adenomyoma [Term] id: DOID:8179 name: cervical atypical polypoid adenomyoma def: "A cervical adenomyoma that is tumor of endometrium, lower uterine segment and endocervix and is characterized by atypical complex glands with squamous metaplasia mixed with myofibromatous stroma. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23805464 "DO"] xref: NCI:C40234 is_a: DOID:4995 ! cervical adenomyoma [Term] id: DOID:8186 name: fallopian tube gestational choriocarcinoma def: "A gestational choriocarcinoma that is located_in the fallopian tube. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/24219747 "DO"] synonym: "Gestational Choriocarcinoma of the fallopian tube" EXACT [NCI2004_11_17:C6278] xref: NCI:C6278 xref: RDO:9005088 is_a: DOID:1963 ! fallopian tube carcinoma is_a: DOID:2025 ! gestational choriocarcinoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:8187 name: gestational uterine corpus choriocarcinoma def: "A gestational choriocarcinoma that is located_in the uterine corpus. (DO)" [https://radiopaedia.org/articles/gestational-choriocarcinoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/16114202 "DO"] is_a: DOID:2025 ! gestational choriocarcinoma is_a: DOID:8188 ! uterine corpus choriocarcinoma created_by: rgd creation_date: 2017-11-14T00:00:00Z [Term] id: DOID:8188 name: uterine corpus choriocarcinoma def: "A choriocarcinoma that is located_in the uterine corpus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16720931 "DO"] xref: NCI:C27246 is_a: DOID:3594 ! choriocarcinoma is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:819 name: mediastinitis def: "A connective tissue disease characterized by inflammation located_in the mediastinum, which extends from the diaphragm to the thoracic inlet and between the pleural cavities. (DO)" [http://www.clinicalradiologyonline.net/article/S0009-9260(04)00002-9/fulltext "DO"] synonym: "mediastinitides" EXACT [] synonym: "mediastinum inflammation" EXACT [] synonym: "mediastinum inflammations" EXACT [] xref: ICD10CM:J98.51 xref: ICD9CM:519.2 xref: MESH:D008480 xref: NCI:C26827 is_a: DOID:65 ! connective tissue disease is_a: DOID:9007003 ! Mediastinal Diseases [Term] id: DOID:8193 name: papillary pattern testicular yolk sac tumor xref: NCI:C39928 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:8195 name: hepatoid pattern testicular yolk sac tumor xref: NCI:C39931 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:82 name: myotonic cataract def: "A cataract that is characterized by multicolored, iridescent opacification of the lens of the eye, and associated with myotonic dystrophy. (DO)" [https://www.nature.com/articles/s41433-018-0161-9 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25037086 "DO"] xref: ICD9CM:366.43 xref: NCI:C34833 xref: RDO:9002188 is_a: DOID:83 ! cataract created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:820 name: myocarditis def: "An extrinsic cardiomyopathy that is characterized as an inflammation of the heart muscle. (DO)" [http://en.wikipedia.org/wiki/Myocarditis "DO"] synonym: "Carditis" EXACT [] synonym: "Myocardial Inflammation" EXACT [] synonym: "Myocarditides" EXACT [] xref: EFO:0009609 xref: GARD:7137 xref: ICD10CM:I51.4 xref: ICD9CM:429.0 xref: MESH:D009205 xref: NCI:C34831 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:3978 ! extrinsic cardiomyopathy [Term] id: DOID:8200 name: tertiary syphilis def: "A syphilis that is characterized as the third stage of syphilis that develops after the disappearance of the secondary symptoms and is marked by ulcers and gummas under the skin and commonly by involvement of the skeletal, cardiovascular, and nervous systems. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=tertiary+syphilis "DO"] synonym: "Late syphilis" EXACT [] xref: ICD10CM:A52 xref: ICD9CM:097.0 xref: MESH:C536774 xref: NCI:C128414 is_a: DOID:4166 ! syphilis [Term] id: DOID:8203 name: sacral spinal canal and spinal cord meningioma def: "meningioma of the Sacral Spinal canal and Spinal Cord" [] synonym: "meningioma of the Sacral Spinal canal and Spinal Cord" EXACT [NCI2004_11_17:C5299] xref: NCI:C5299 is_a: DOID:1140 ! spinal canal and spinal cord meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:8207 name: hilar lung carcinoma synonym: "lung hilum carcinoma" EXACT [] xref: NCI:C7454 is_a: DOID:3905 ! lung carcinoma is_a: DOID:7696 ! lung hilum cancer created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:8208 name: lung superior sulcus carcinoma synonym: "superior sulcus carcinoma of lung" EXACT [] synonym: "superior sulcus carcinoma of the lung" EXACT [] xref: NCI:C7779 is_a: DOID:8007 ! Pancoast tumor [Term] id: DOID:8211 name: fallopian tube cystadenofibroma def: "A fallopian tube adenofibroma that is characterized by the presence of cysts and/or cystic spaces. (DO)" [http://atlasgeneticsoncology.org/Tumors/FallopTubTumID5279.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/26549083 "DO"] xref: NCI:C40114 is_a: DOID:5478 ! fallopian tube adenofibroma is_a: DOID:5482 ! cystadenofibroma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:8216 name: parapharyngeal meningioma synonym: "Primary Parapharyngeal Meningioma" EXACT [] xref: NCI:C5303 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:8221 name: upper clivus meningioma synonym: "meningioma of the Upper Clivus" EXACT [NCI2004_11_17:C5290] xref: NCI:C5290 xref: RDO:9005051 is_a: DOID:6517 ! clivus meningioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:8223 name: penile urethral cancer xref: NCI:C39868 is_a: DOID:736 ! male urethral cancer [Term] id: DOID:8224 name: central breast papilloma def: "A breast duct papilloma that is located_in a major duct. (DO)" [https://radiopaedia.org/articles/intraductal-papilloma-of-breast "DO", https://www.ncbi.nlm.nih.gov/pubmed/21310798 "DO"] synonym: "large duct breast papilloma" EXACT [NCI2004_11_17:C36087] synonym: "solitary intraductal breast papilloma" EXACT [] xref: NCI:C36087 is_a: DOID:1626 ! breast duct papilloma [Term] id: DOID:8225 name: microscopic breast papilloma xref: NCI:C36088 is_a: DOID:1626 ! breast duct papilloma [Term] id: DOID:8227 name: atypical breast papilloma def: "A breast duct papilloma that is characterized by the presence of cells that are abnormal but are not yet malignant. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20407326 "DO"] xref: NCI:C36089 is_a: DOID:1626 ! breast duct papilloma [Term] id: DOID:823 name: periapical periodontitis def: "Inflammation of the PERIAPICAL TISSUE. It includes general, unspecified, or acute nonsuppurative inflammation. Chronic nonsuppurative inflammation is PERIAPICAL GRANULOMA. Suppurative inflammation is PERIAPICAL ABSCESS." [MESH:D010485] synonym: "Acute Nonsuppurative Periodontitides" EXACT [] synonym: "Acute Nonsuppurative Periodontitis" EXACT [] synonym: "Apical Periodontitides" EXACT [] synonym: "Apical Periodontitis" EXACT [] synonym: "Periapical Periodontitides" EXACT [] xref: EFO:1001391 xref: ICD10CM:K04.5 xref: MESH:D010485 xref: RDO:0006315 is_a: DOID:824 ! periodontitis is_a: DOID:9002699 ! Periapical Diseases [Term] id: DOID:8230 name: intrahepatic biliary papillomatosis def: "A biliary papillomatosis located_in an intrahepatic bile duct. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26885145/ "DO"] xref: NCI:C7125 is_a: DOID:5468 ! biliary papillomatosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8233 name: inflammatory liposarcoma xref: NCI:C6508 is_a: DOID:5690 ! well-differentiated liposarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8239 name: lower clivus meningioma synonym: "meningioma of the lower Clivus" EXACT [NCI2004_11_17:C5288] xref: NCI:C5288 xref: RDO:9005050 is_a: DOID:6517 ! clivus meningioma created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:824 name: periodontitis def: "Inflammation and loss of connective tissues supporting or surrounding the teeth. This may involve any part of the PERIODONTIUM. Periodontitis is currently classified by disease progression (CHRONIC PERIODONTITIS; AGGRESSIVE PERIODONTITIS) instead of age of onset. (From 1999 International Workshop for a Classification of Periodontal Diseases and Conditions, American Academy of Periodontology)" [MESH:D010518] synonym: "chronic pericementitis" EXACT [] synonym: "pericementitides" EXACT [] synonym: "pericementitis" EXACT [] synonym: "periodontitides" EXACT [] xref: EFO:0000649 xref: ICD10CM:K05.3 xref: MESH:D010518 xref: NCI:C34918 is_a: DOID:3388 ! periodontal disease [Term] id: DOID:8243 name: meningeal melanomatosis def: "A central nervous system melanocytic neoplasm that is characterized as an extra-axial well-encapsulated malignant tumour with diffuse meningeal growth and dark coloration (due to high melanin contents). (DO)" [https://neurosurgery.directory/2020/10/04/diffuse-leptomeningeal-melanocytosis/ "DO"] synonym: "leptomeningeal melanomatosis" EXACT [] xref: ICDO:8728/3 xref: NCI:C6891 is_a: DOID:4955 ! central nervous system melanocytic neoplasm created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8251 name: adult pleomorphic rhabdomyosarcoma synonym: "pleomorphic rhabdomyosarcoma, adult type" EXACT [] xref: ICDO:8901/3 xref: NCI:C27369 is_a: DOID:3250 ! pleomorphic rhabdomyosarcoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8252 name: chronic rhinitis def: "A rhinitis which is persistent and long-lasting. It may occur with diseases such as syphilis, tuberculosis, rhinoscleroma, rhinosporidiosis, leishmaniasis, blastomycosis, histoplasmosis, and leprosy, all of which are characterized by the formation of inflamed lesions (granulomas) and the destruction of soft tissue, cartilage, and bone. Chronic rhinitis causes nasal obstruction, pus-filled discharge from the nose, and frequent bleeding. (DO)" [http://www.merck.com/mmhe/sec19/ch221/ch221g.html?qt=chronic%20rhinitis&alt=sh "DO"] xref: ICD10CM:J31.0 xref: ICD9CM:472.0 xref: NCI:C34479 is_a: DOID:4483 ! rhinitis [Term] id: DOID:8255 name: vulva fibroepithelial polyp synonym: "Vulval Fibroepithelial polyp" EXACT [NCI2004_11_17:C6857] xref: EFO:1000777 xref: NCI:C6857 xref: RDO:9003693 is_a: DOID:2059 ! vulvar disease is_a: DOID:6873 ! skin tag created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8256 name: olfactory neural tumor is_a: DOID:370 ! malignant olfactory nerve neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:8259 name: bulbomembranous urethral cancer xref: NCI:C39869 is_a: DOID:736 ! male urethral cancer [Term] id: DOID:827 name: ureter tuberculosis def: "An urogenital tuberculosis that is located_in ureter resulting in ureteral strictures. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/28087922 "DO"] synonym: "tuberculosis of ureter" EXACT [] xref: ICD9CM:016.2 xref: MONDO:0004517 is_a: DOID:1426 ! ureteral disease is_a: DOID:2149 ! urogenital tuberculosis [Term] id: DOID:8272 name: anterior urethra cancer def: "A female urethral cancer located_in the anterior urethra. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/anterior-urethral-cancer "DO"] synonym: "anterior urethral malignant tumor" EXACT [] xref: MONDO:0004518 xref: NCI:C7641 is_a: DOID:738 ! female urethral cancer created_by: rgd creation_date: 2017-09-18T00:00:00Z [Term] id: DOID:8274 name: synovial angioma synonym: "hemangioma of Synovium" EXACT [NCI2004_11_17:C6525] xref: NCI:C6525 is_a: DOID:0060123 ! connective tissue benign neoplasm is_a: DOID:469 ! deep angioma [Term] id: DOID:8275 name: intratubular embryonal carcinoma def: "An embryonal testis carcinoma that is located within a tubule. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/11900581 "DO"] xref: NCI:C7325 xref: RDO:9003732 is_a: DOID:5680 ! embryonal testis carcinoma created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8282 name: adult epithelioid sarcoma xref: NCI:C7944 is_a: DOID:6193 ! epithelioid sarcoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8283 name: peritonitis def: "A gastrointestinal system disease that involves inflammation of the peritoneum resulting from perforation of the gastrointestinal tract, which produces immediate chemical inflammation followed shortly by infection from intestinal organisms. Peritonitis can also result from appendicitis, diverticulitis, strangulating intestinal obstruction, pancreatitis, pelvic inflammatory disease, mesenteric ischemia, intraperitoneal blood, barium, or peritoneo-systemic shunts, drains, and dialysis catheters in the peritoneal cavity. The symptoms include abdominal pain and tenderness, fever, fluid in the abdomen, nausea, vomiting and low urine output. (DO)" [http://www.merck.com/mmpe/sec02/ch011/ch011b.html#sec02-ch011-ch011b-402 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001335.htm "DO"] synonym: "acute generalized peritonitis" EXACT [] synonym: "primary bacterial peritonitis" EXACT [] synonym: "Primary Peritonitis" EXACT [] synonym: "Retractile mesenteritis" EXACT [] synonym: "sclerosing mesenteritis" EXACT [] synonym: "Secondary Peritonitis" EXACT [] xref: EFO:0008588 xref: ICD9CM:567.8 xref: MESH:D010538 is_a: DOID:9002654 ! Intraabdominal Infections is_a: DOID:9006175 ! Peritoneal Diseases [Term] id: DOID:8288 name: clear cell squamous cell skin carcinoma synonym: "clear cell squamous cell carcinoma of skin" EXACT [] xref: NCI:C4459 is_a: DOID:3151 ! skin squamous cell carcinoma created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:8292 name: atypical follicular adenoma xref: ICDO:8330/1 xref: NCI:C27729 is_a: DOID:6204 ! follicular adenoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8295 name: scabies def: "A mite infestation that is a contagious ectoparasite skin infection caused by human itch mite Sarcoptes scabiei type hominis, which burrows into the upper layer of the skin but never below the stratum corneum causing severe itching and a rash found on the hands, folds of the wrist, elbow or knee, penis, breast, and shoulder blades. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Scabies.htm "DO"] synonym: "infestation by Sarcoptes scabiei" EXACT [] synonym: "infestation by Sarcoptes scabiei var hominis" EXACT [] synonym: "sarcoptic itch" EXACT [] synonym: "Sarcoptic Mange" EXACT [] xref: ICD10CM:B86 xref: ICD9CM:133.0 xref: MESH:D012532 xref: NCI:C34998 is_a: DOID:7894 ! mite infestation is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:83 name: cataract def: "A lens disease characterized by clouding of the lens inside the eye which leads to a decrease in vision. (DO)" [http://en.wikipedia.org/wiki/Cataract "DO", https://www.ncbi.nlm.nih.gov/pubmed/10414631 "DO"] synonym: "cataracts" EXACT [] synonym: "congenital cataract" NARROW [] synonym: "CONGENITAL NUCLEAR CATARACT" NARROW [] synonym: "CORTICAL PULVERULENT CATARACT" NARROW [] synonym: "Lens Opacification" EXACT [] synonym: "lens opacities" EXACT [] synonym: "lens opacity" EXACT [] synonym: "membranous cataract" EXACT [] synonym: "membranous cataracts" EXACT [] synonym: "pseudoaphakia" EXACT [] synonym: "pseudoaphakias" EXACT [] xref: EFO:0001059 xref: ICD10CM:H26 xref: ICD9CM:366.8 xref: MESH:D002386 xref: MIM:PS116200 xref: MONDO:0005129 is_a: DOID:0050177 ! monogenic disease is_a: DOID:110 ! lens disease [Term] id: DOID:8302 name: mixed endometrial stromal and smooth muscle tumor def: "A uterine corpus cancer that has_material_basis_in endometrial stroma and smooth muscle cells. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25755804 "DO"] synonym: "stromomyoma" EXACT [] xref: NCI:C40178 is_a: DOID:1005 ! endometrial disease is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:8303 name: congenital granular cell tumor is_a: DOID:0080015 ! physical disorder is_a: DOID:3350 ! mesenchymal cell neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:8304 name: lymph node palisaded myofibroblastoma def: "A lymph node benign neoplasm that is composed of myoid or myofibroblastic spindle cells, with focal palisading and so-called amianthoid fibers. (DO)" [http://www.pathologyoutlines.com/topic/softtissueintranodalpalisaded.html "DO"] synonym: "palisaded myofibroblastoma of the lymph node" EXACT [] xref: NCI:C6584 is_a: DOID:0080617 ! lymph node benign neoplasm created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:8305 name: nonossifying fibromyxoid tumor synonym: "Nonossifying Fibromyxoma" EXACT [NCI2004_11_17:C6583] xref: NCI:C6583 xref: RDO:9005124 is_a: DOID:3350 ! mesenchymal cell neoplasm created_by: rgd creation_date: 2017-11-16T00:00:00Z [Term] id: DOID:8307 name: early invasive cervical adenocarcinoma def: "A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and microscopic findings that suggest invasion. (DO)" [https://www.uptodate.com/contents/invasive-cervical-adenocarcinoma "DO"] xref: NCI:C36096 is_a: DOID:3702 ! cervical adenocarcinoma [Term] id: DOID:8310 name: sclerosing adenosis of breast def: "A proliferative type fibrocystic change of breast that is characterized by enlarged lobules that are distorted by scar-like tissue and excess glandular tissue. (DO)" [https://www.cancer.org/cancer/breast-cancer/non-cancerous-breast-conditions/adenosis-of-the-breast.html "DO"] synonym: "Sclerosing breast Adenosis" EXACT [NCI2004_11_17:C5205] xref: NCI:C5205 is_a: DOID:3274 ! proliferative type fibrocystic change of breast is_a: DOID:5998 ! microglandular adenosis [Term] id: DOID:833 name: auditory system cancer def: "An organ system cancer located_in the ear and characterized by uncontrolled cellular proliferation of the auditory organs. (DO)" [http://en.wikipedia.org/wiki/Ear "DO"] xref: NCI:C3000 is_a: DOID:0060116 ! sensory system cancer is_a: DOID:9001296 ! Ear Neoplasms created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:8331 name: perineural angioma xref: NCI:C6526 is_a: DOID:0060090 ! central nervous system benign neoplasm is_a: DOID:469 ! deep angioma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8335 name: microglandular adenosis of breast xref: NCI:C5199 is_a: DOID:5998 ! microglandular adenosis [Term] id: DOID:8336 name: childhood choriocarcinoma of the ovary def: "A choriocarcinoma of the ovary that is present during childhood. (DO)" [https://www.sciencedirect.com/science/article/pii/S1875957211000349 "DO"] synonym: "childhood ovarian choriocarcinoma" EXACT [] synonym: "hildhood choriocarcinoma of ovary" EXACT [] synonym: "pediatric choriocarcinoma of ovary" EXACT [] xref: NCI:C6549 xref: RDO:9004208 is_a: DOID:5550 ! choriocarcinoma of ovary created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8337 name: appendicitis alt_id: MIM:107700 def: "A gastrointestinal system infectious disease that involves inflammation and infection of the appendix caused by the blockage of the lumen with a small, hard piece of stool, a foreign body or worms. Mucus backs up in the appendiceal lumen, causing bacteria that live inside the appendix to multiply. The infection has_symptom pain, in the upper abdomen initially and later in the lower abdomen, has_symptom nausea, has_symptom vomiting and has_symptom fever. (DO)" [http://www.merck.com/mmhe/sec09/ch132/ch132e.html#sec09-ch132-ch132e-1018 "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/appendicitis "DO"] synonym: "acute appendicitis" EXACT [] synonym: "acute appendicitis with generalized peritonitis" EXACT [] synonym: "acute appendicitis with peritoneal abscess" EXACT [] synonym: "Perforated Appendicitis" EXACT [] synonym: "ruptured appendicitis" EXACT [] xref: EFO:0007149 xref: ICD10CM:K37 xref: ICD9CM:540-543.99 xref: MESH:D001064 xref: NCI:C35145 is_a: DOID:1518 ! cecal disease is_a: DOID:2326 ! gastroenteritis is_a: DOID:9002654 ! Intraabdominal Infections [Term] id: DOID:8338 name: villoglandular variant cervical mucinous adenocarcinoma def: "A cervical mucinous adenocarcinoma that is characterized by a dominant pattern of well differentiated, thin and simple papillary structures without broad, fibrovascular cores. (DO)" [http://www.pathologyoutlines.com/topic/uterusvilloglandular.html "DO"] synonym: "EFO:1000170" EXACT [] xref: EFO:1000170 xref: NCI:C40208 is_a: DOID:3701 ! cervical mucinous adenocarcinoma [Term] id: DOID:8339 name: intestinal variant cervical mucinous adenocarcinoma def: "A cervical mucinous adenocarcinoma that is characterized by areas of intestinal type differentiation. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5780314/ "DO"] xref: NCI:C40203 is_a: DOID:3701 ! cervical mucinous adenocarcinoma [Term] id: DOID:8340 name: endocervical type cervical mucinous adenocarcinoma def: "A cervical mucinous adenocarcinoma characterized by the presence of malignant glandular cells that resemble those of the endocervix. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22990556/ "DO"] synonym: "Mucinous adenocarcinoma, endocervical type" EXACT [] xref: ICDO:8482/3 is_a: DOID:3701 ! cervical mucinous adenocarcinoma created_by: rgd creation_date: 2016-08-09T00:00:00Z [Term] id: DOID:8352 name: aortic malignant tumor def: "A vascular cancer that is located_in the aorta. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/14681654 "DO"] synonym: "aortic malignant neoplasm" EXACT [] xref: NCI:C5375 is_a: DOID:175 ! vascular cancer is_a: DOID:520 ! aortic disease [Term] id: DOID:8353 name: epithelioid malignant peripheral nerve sheath tumor synonym: "epithelioid MPNST" EXACT [] synonym: "malignant epithelioid neoplasm of the peripheral nerve sheath" EXACT [] xref: EFO:1000245 xref: NCI:C6561 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8354 name: complement component 3 deficiency alt_id: MIM:613779 alt_id: OMIA:000155 def: "A complement deficiency that is characterized by deficiency of complement component 3 that increases susceptibility to infection and autoimmune diseases and has_material_basis_in autosomal recessive inheritance of mutation in the C3 gene on chromosome 19p13.3, has_symptom recurrent bacterial infections. (DO)" [https://www.omim.org/entry/613779 "DO"] synonym: "C3D" EXACT [] synonym: "C3 deficiency" EXACT [] synonym: "C3 deficiency, autosomal recessive" EXACT [] synonym: "complement component 3 deficiency, autosomal recessive" EXACT [] xref: MESH:C565169 xref: NCI:C9468 xref: ORDO:280133 is_a: DOID:626 ! complement deficiency [Term] id: DOID:8358 name: pseudoglandular variant testicular seminoma xref: NCI:C40958 is_a: DOID:5842 ! testis seminoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8361 name: glassy cell variant cervical adenosquamous carcinoma def: "A cervical adenosquamous carcinoma that is a rare form and is composed of cells with a glass-like cytoplasm. (DO)" [http://en.wikipedia.org/wiki/Glassy_cell_carcinoma_of_the_cervix "DO", https://www.ncbi.nlm.nih.gov/pubmed/14749637 "DO", https://www.ncbi.nlm.nih.gov/pubmed/15318016 "DO"] xref: NCI:C40212 is_a: DOID:5636 ! cervical adenosquamous carcinoma created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:8362 name: enteric pattern testicular yolk sac tumor xref: NCI:C39932 is_a: DOID:5344 ! testicular yolk sac tumor [Term] id: DOID:8368 name: chordoid meningioma def: "A meningioma that is characterized by the predominance of tissues that are histologically similar to chordoma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/36692061/ "DO"] xref: EFO:1000176 xref: NCI:C6908 is_a: DOID:3565 ! meningioma created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:8369 name: adult malignant schwannoma synonym: "adult MPNST" EXACT [] xref: NCI:C7814 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8389 name: lumbar plexus neoplasm synonym: "tumor of lumbar plexus" EXACT [] xref: NCI:C5824 is_a: DOID:4693 ! nerve plexus neoplasm created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:8392 name: reticular pattern testicular yolk sac tumor xref: NCI:C39923 is_a: DOID:5344 ! testicular yolk sac tumor created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8394 name: adult type testicular granulosa cell tumor xref: NCI:C39946 xref: RDO:9003645 is_a: DOID:4757 ! testicular sex cord-stromal neoplasm is_a: DOID:5331 ! testicular granulosa cell tumor created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8398 name: osteoarthritis alt_id: MIM:140600 alt_id: MIM:165720 alt_id: MIM:607850 alt_id: MIM:610839 alt_id: MIM:612400 alt_id: MIM:612401 def: "An arthritis that has_material_basis_in worn out cartilage located_in joint. (DO)" [http://en.wikipedia.org/wiki/Osteoarthritis "DO", http://www.mayoclinic.com/health/osteoarthritis/DS00019 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000423.htm "DO"] synonym: "degenerative arthritides" EXACT [] synonym: "Degenerative Arthritis" EXACT [] synonym: "degenerative joint disease" EXACT [] synonym: "DIPOA" EXACT [] synonym: "GOA1" EXACT [] synonym: "HAND OSTEOARTHRITIS" NARROW [] synonym: "HOA HEBERDEN NODES" NARROW [] synonym: "hypertrophic arthritis" EXACT [] synonym: "OA" EXACT [] synonym: "OADIP" EXACT [] synonym: "OS1" RELATED [] synonym: "OS2" RELATED [] synonym: "OS3" RELATED [] synonym: "OS4" RELATED [] synonym: "OS5" RELATED [] synonym: "OS6" RELATED [] synonym: "osteoarthritides" EXACT [] synonym: "OSTEOARTHRITIS, GENERALIZED, WITHOUT DYSPLASIA" EXACT [] synonym: "OSTEOARTHRITIS OF DISTAL INTERPHALANGEAL JOINTS" EXACT [] synonym: "OSTEOARTHRITIS OF KNEE/HIP" EXACT [] synonym: "osteoarthritis susceptibility 1" RELATED [] synonym: "osteoarthritis susceptibility 2" RELATED [] synonym: "osteoarthritis susceptibility 3" RELATED [] synonym: "osteoarthritis susceptibility 4" RELATED [] synonym: "osteoarthritis susceptibility 5" RELATED [] synonym: "osteoarthritis susceptibility 6" RELATED [] synonym: "osteoarthritis, toe" NARROW [] synonym: "Osteoarthroses" EXACT [] synonym: "Osteoarthrosis" EXACT [] synonym: "osteoarthrosis and allied disorder" EXACT [] synonym: "osteoarthrosis deformans" EXACT [] xref: EFO:0002506 xref: EFO:1000788 xref: ICD9CM:715.3 xref: MESH:D010003 xref: MONDO:0005178 xref: NCI:C3293 is_a: DOID:1575 ! rheumatic disease is_a: DOID:848 ! arthritis is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:8399 name: trombiculiasis def: "A mite infestation that involves rash caused by Leptotrombidium deliense. (DO)" [http://en.wikipedia.org/wiki/Trombiculosis "DO"] synonym: "trombiculiases" EXACT [] xref: EFO:0007526 xref: MESH:D014323 is_a: DOID:7894 ! mite infestation [Term] id: DOID:84 name: osteochondritis dissecans def: "An ischemic bone disease that results_in necrosis located_in epiphysis. (DO)" [http://en.wikipedia.org/wiki/Osteochondritis_dissecans "DO", http://www.mayoclinic.com/health/osteochondritis-dissecans/DS00741 "DO"] synonym: "OCD" EXACT [] xref: GARD:12703 xref: ICD10CM:M93.2 xref: ICD9CM:732.7 xref: MESH:D010008 xref: NCI:C34877 xref: NCI:C34878 is_a: DOID:0080008 ! ischemic bone disease is_a: DOID:9006161 ! Osteochondritis [Term] id: DOID:840 name: cork-handlers' disease def: "An extrinsic allergic alveolitis caused by inhalation of cork dust containing the antigens produced by the fungus Penicillium glabrum. The symptoms include dyspnea, wheezing cough, fever and asthenia. (DO)" [http://www.ncbi.nlm.nih.gov/pmc/articles/PMC470051/pdf/thorax00130-0009.pdf "DO"] synonym: "cork-handlers' disease or lung" EXACT [] synonym: "cork-handlers' lung" EXACT [] synonym: "suberosis" EXACT [] xref: ICD10CM:J67.3 xref: ICD9CM:495.3 is_a: DOID:841 ! extrinsic allergic alveolitis created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:8400 name: malignant cornea melanoma synonym: "malignant corneal melanoma" EXACT [] synonym: "malignant melanoma of cornea" EXACT [] xref: NCI:C4553 is_a: DOID:6199 ! cornea cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:8408 name: Meckel's diverticulitis def: "A diverticulits characterized by the inflammation of a congenital diverticulum, which is a slight bulge of the small intestine present at birth. (DO)" [https://en.wikipedia.org/wiki/Meckel's_diverticulum#Diverticulitis "DO", https://www.ncbi.nlm.nih.gov/pubmed/17021300 "DO", https://www.ncbi.nlm.nih.gov/pubmed/17579156 "DO"] synonym: "Meckel diverticulitis" EXACT [] xref: NCI:C27300 xref: RDO:9003928 is_a: DOID:7475 ! diverticulitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8409 name: microinvasive cervical squamous cell carcinoma def: "A cervical squamous cell carcinoma that is characterized by invasion which diagnosed by microscopy only. Invasion is limited to measured stromal invasion with a maximum depth of 5_mm and no wider than 7_mm diameter. (DO)" [http://www.pathologyoutlines.com/topic/cervixmicroinvasivescc.html "DO"] synonym: "early invasive cervical squamous cell carcinoma" EXACT [] xref: NCI:C36094 is_a: DOID:3744 ! cervical squamous cell carcinoma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:841 name: extrinsic allergic alveolitis def: "An interstitial lung disease involving inflammation of alveoli and smallest airways (bronchioles) of the lung caused by an allergic reaction to inhaled organic dusts containing microorganisms or proteins, and chemicals. Symptoms include chills, cough, fever, malaise, shortness of breath, loss of appetite and weight loss. (DO)" [http://www.merck.com/mmhe/sec04/ch051/ch051b.html "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000109.htm "DO"] synonym: "extrinsic allergic alveolitides" EXACT [] synonym: "hypersensitivity pneumonitides" EXACT [] synonym: "hypersensitivity pneumonitis" EXACT [] xref: EFO:1001321 xref: GARD:12 xref: ICD10CM:J67.9 xref: ICD9CM:495 xref: MESH:D000542 xref: NCI:C34369 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:8410 name: childhood kidney angiomyolipoma synonym: "pediatric renal angiomyolipoma" EXACT [] xref: ICD-O:M8860/0 xref: NCI:C6565 is_a: DOID:8411 ! kidney angiomyolipoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8411 name: kidney angiomyolipoma alt_id: DOID:9000764 alt_id: MESH:C567682 synonym: "angiomyolipoma of kidney" EXACT [] synonym: "renal angiomyolipoma" EXACT [] synonym: "Renal TSC2 Angiomyolipomas, Modifier of" RELATED [] xref: EFO:1000312 xref: NCI:C3888 is_a: DOID:3116 ! kidney benign neoplasm is_a: DOID:3314 ! angiomyolipoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8415 name: carcinoma arising in nasal papillomatosis xref: NCI:C27389 is_a: DOID:4931 ! nasal cavity carcinoma created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:8418 name: congenital fibrosarcoma synonym: "infantile fibrosarcoma" EXACT [] xref: NCI:C4244 is_a: DOID:0080015 ! physical disorder is_a: DOID:3520 ! childhood fibrosarcoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8419 name: colloid adenoma synonym: "macrofollicular adenoma" EXACT [] xref: NCI:C4161 is_a: DOID:6204 ! follicular adenoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8420 name: malignant glandular tumor of peripheral nerve sheath synonym: "glandular MPNST" EXACT [] xref: NCI:C6560 is_a: DOID:5940 ! malignant peripheral nerve sheath tumor created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8426 name: follicular infundibulum tumor synonym: "follicular infundibulum tumour" EXACT [] synonym: "neoplasm of the Follicular Infundibulum" EXACT [NCI2004_11_17:C4469] synonym: "tumor of follicular infundibulum" EXACT [SNOMEDCT_2005_07_31:254694002] synonym: "tumour of follicular infundibulum" EXACT [] xref: NCI:C4469 is_a: DOID:5375 ! hair follicle neoplasm created_by: rgd creation_date: 2017-02-03T00:00:00Z [Term] id: DOID:8427 name: retinal melanoma synonym: "malignant retinal melanoma" EXACT [] xref: NCI:C8601 is_a: DOID:4645 ! retinal cancer created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:8428 name: breast apocrine carcinoma in situ def: "A breast carcinoma in situ that is characterized by abundant eosinophilic apocrine cytoplasm and large nuclei. It is a variant of ductal carcinoma in situ of the breast. (DO)" [http://surgpathcriteria.stanford.edu/breast/dcis/apocrinedcis.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/23771415 "DO", https://www.ncbi.nlm.nih.gov/pubmed/25374127 "DO"] synonym: "Apocrine carcinoma in situ of the breast" EXACT [NCI2004_11_17:C5140] xref: NCI:C5140 is_a: DOID:8791 ! breast carcinoma in situ [Term] id: DOID:8431 name: physiological polycythemia xref: NCI:C27311 xref: RDO:9002588 is_a: DOID:8432 ! polycythemia created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:8432 name: polycythemia alt_id: OMIA:000809 def: "A bone marrow disease characterized by an increased number of red blood cells in the bloodstream resulting in thicker blood and reduced blood flow. (DO)" [https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera "DO", https://www.nhlbi.nih.gov/health-topics/polycythemia-vera "DO"] synonym: "erythrocythemia" EXACT [] synonym: "erythrocytoses" EXACT [] synonym: "Erythrocytosis" EXACT [] synonym: "ERYTHROCYTOSIS, SOMATIC" NARROW [] synonym: "HEMOGLOBIN G (Pest)" RELATED [] synonym: "HEMOGLOBIN INKSTER" RELATED [] synonym: "HEMOGLOBIN J (Buda)" RELATED [] synonym: "HEMOGLOBIN PUTTELANGE" RELATED [] synonym: "HEMOGLOBIN SAN DIEGO" RELATED [] synonym: "HEMOGLOBIN SHERWOOD FOREST" RELATED [] synonym: "HEMOGLOBIN SOUTH MILWAUKEE" RELATED [] synonym: "hemoglobin TAK" RELATED [] synonym: "polycythemias" EXACT [] xref: EFO:0005804 xref: MESH:D011086 xref: NCI:C26863 is_a: DOID:4961 ! bone marrow disease is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:8433 name: thyroid malformation def: "Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM." [MESH:D050033] synonym: "Ectopic Thyroid" EXACT [] synonym: "ectopic thyroids" EXACT [] synonym: "Thyroid Agenesis" EXACT [] synonym: "Thyroid Dysgenesis" EXACT [] synonym: "thyroid hypoplasia" EXACT [] xref: MESH:D050033 xref: NCI:C27331 is_a: DOID:50 ! thyroid gland disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:8437 name: intestinal obstruction def: "Any impairment, arrest, or reversal of the normal flow of INTESTINAL CONTENTS toward the ANAL CANAL." [MESH:D007415] synonym: "Intestinal Obstructions" EXACT [] xref: ICD10CM:K56.60 xref: ICD10CM:K56.609 xref: ICD10CM:K56.69 xref: ICD9CM:560.9 xref: MESH:D007415 xref: NCI:C9175 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:8438 name: afferent loop syndrome def: "A postgastrectomy syndrome that is characterized by obstruction of the afferent loop that arises after gastric surgery with gastrojejunostomy reconstruction. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32638230/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK546609/ "DO", https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=134&contentid=157 "DO"] synonym: "afferent limb syndrome" EXACT [] synonym: "afferent loop syndromes" EXACT [] xref: EFO:1000799 xref: MESH:D000343 is_a: DOID:8437 ! intestinal obstruction is_a: DOID:8439 ! postgastrectomy syndrome is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:8439 name: postgastrectomy syndrome def: "Sequelae of gastrectomy from the second week after operation on. Include recurrent or anastomotic ulcer, postprandial syndromes (DUMPING SYNDROME and late postprandial hypoglycemia), disordered bowel action, and nutritional deficiencies." [MESH:D011178] synonym: "postgastrectomy syndromes" EXACT [] synonym: "postgastric surgery syndrome" EXACT [] xref: ICD9CM:564.2 xref: MESH:D011178 is_a: DOID:1159 ! functional gastric disease is_a: DOID:225 ! syndrome is_a: DOID:5295 ! intestinal disease is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:8440 name: ileus def: "A condition caused by the lack of intestinal PERISTALSIS or INTESTINAL MOTILITY without any mechanical obstruction. This interference of the flow of INTESTINAL CONTENTS often leads to INTESTINAL OBSTRUCTION. Ileus may be classified into postoperative, inflammatory, metabolic, neurogenic, and drug-induced." [MESH:D045823] synonym: "ileus of intestine" EXACT [] xref: MESH:D045823 xref: NCI:C37979 is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:8442 name: paralytic ileus xref: ICD10CM:K56.0 xref: ICD9CM:560.1 xref: NCI:C93045 is_a: DOID:8440 ! ileus created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8443 name: brachial plexus lesion def: "A brachial plexus neuropathy characterized by an abnormality, usually caused by disease or trauma, located in the brachial plexus. (DO)" [http://en.wikipedia.org/wiki/Brachial_plexus_injury "DO", http://www.nlm.nih.gov/medlineplus/brachialplexusinjuries.html "DO"] synonym: "brachial plexus lesions" EXACT [] xref: ICD9CM:353.0 is_a: DOID:3690 ! brachial plexus neuropathy [Term] id: DOID:8445 name: intestinal volvulus alt_id: MIM:193250 def: "An intestinal obstruction characterized by abnormal rotation of the intestines. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/20549505 "DO"] synonym: "familial intestinal malrotation" EXACT [] synonym: "intestine volvulus" EXACT [] synonym: "twist of intestine, bowel, or colon" EXACT [] synonym: "Volvulus" EXACT [] xref: EFO:1000989 xref: ICD10CM:K56.2 xref: ICD9CM:560.2 xref: MESH:D045822 xref: NCI:C98963 is_a: DOID:8437 ! intestinal obstruction is_a: DOID:9000314 ! Torsion Abnormality [Term] id: DOID:8446 name: intussusception alt_id: MIM:147710 def: "A form of intestinal obstruction caused by the PROLAPSE of a part of the intestine into the adjoining intestinal lumen. There are four types: colic, involving segments of the LARGE INTESTINE; enteric, involving only the SMALL INTESTINE; ileocecal, in which the ILEOCECAL VALVE prolapses into the CECUM, drawing the ILEUM along with it; and ileocolic, in which the ileum prolapses through the ileocecal valve into the COLON." [MESH:D007443] synonym: "Intestinal Invagination" EXACT [] synonym: "intestinal invaginations" EXACT [] synonym: "intussusception of intestine" EXACT [] synonym: "Intussusceptions" EXACT [] synonym: "Intususception" EXACT [] synonym: "intususceptions" EXACT [] synonym: "invagination of intestine or colon" EXACT [] xref: ICD10CM:K56.1 xref: ICD9CM:560.0 xref: MESH:D007443 xref: NCI:C113484 is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:8448 name: intestinal impaction xref: ICD10CM:K56.4 xref: ICD10CM:K56.49 xref: ICD9CM:560.39 is_a: DOID:8437 ! intestinal obstruction created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:845 name: cyclothymic disorder def: "A bipolar disorder that involves recurrent hypomanic and dysthymic episodes, but no full manic episodes or full major depressive episodes. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"] synonym: "affective personality disorder" EXACT [] synonym: "cycloid personality" EXACT [] synonym: "cyclothymia" EXACT [] synonym: "Cyclothymic Disorders" EXACT [] synonym: "Cyclothymic Personalities" EXACT [] synonym: "Cyclothymic Personality" EXACT [] xref: ICD10CM:F34.0 xref: ICD9CM:301.13 xref: MESH:D003527 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:8454 name: riboflavin deficiency alt_id: MIM:615026 def: "A nutritional deficiency disease that is characterized by stomatitis, cheilosis, glossitis, conjunctivitis, and anemia, develops_from vitamin B2 (riboflavin) deficiency, has_symptom red chapped lips, painful swollen tongue, sore throat, blurred vision, and fatigue, and has_material_basis_in inadequate intake, endocrine disorder, liver disorder, alcoholism, and dialysis. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK470460/ "DO"] synonym: "ariboflavinosis" EXACT [] synonym: "MATERNAL RIBOFLAVIN DEFICIENCY" NARROW [] synonym: "RBFVD" EXACT [] synonym: "riboflavin deficiencies" EXACT [] synonym: "riboflavin transporter deficiency type 1" EXACT [] synonym: "RTD1" EXACT [] synonym: "vitamin B2 deficiency" EXACT [] xref: ICD10CM:E53.0 xref: ICD9CM:266.0 xref: MESH:D012257 is_a: DOID:5113 ! nutritional deficiency disease is_a: DOID:9002785 ! Vitamin B Deficiency [Term] id: DOID:8455 name: pyridoxine deficiency anemia def: "A nutritional deficiency disease that is characterized by normocytic anemia associated with deficiency of pyridoxine (vitamin B6), and has_material_basis_in decreased intake, malabsorption, increased clearance or breakdown, and certain medications (eg isoniazid). (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK470579/ "DO"] synonym: "pyridoxine deficiency" EXACT [] synonym: "vitamin B6 deficiencies" EXACT [] synonym: "vitamin B6 deficiency" EXACT [] synonym: "vitamin B6 deficiency syndrome" EXACT [] xref: ICD10CM:E53.1 xref: ICD9CM:266.1 xref: MESH:D026681 xref: NCI:C85221 is_a: DOID:2355 ! anemia is_a: DOID:9002785 ! Vitamin B Deficiency [Term] id: DOID:8456 name: choline deficiency disease def: "A nutritional deficiency disease that is characterized by deficiency of choline, which has been associated with development of fatty liver, and possibly has_material_basis_in inadequate intake and exacerbated by a genetic predisposition. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3319504/ "DO"] synonym: "choline deficiencies" EXACT [] synonym: "choline deficiency" EXACT [] xref: MESH:D002796 is_a: DOID:9002785 ! Vitamin B Deficiency [Term] id: DOID:8457 name: pellagra def: "A nutritional deficiency disease that is characterized by deficiency of niacin (vitamin B3), has_symptom gastrointestinal disturbance, anorexia, diarrhea, dementia, hallucinations, depression, psychosis, and/or non-specific skin changes, and has_material_basis_in deficiency of niacin, often from inadequate diet, malabsorption, or medication side effects. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/16207585 "DO"] synonym: "niacin deficiency" EXACT [] synonym: "niacin-tryptophan deficiency" EXACT [] synonym: "Pellagras" EXACT [] xref: EFO:0008570 xref: GARD:10014 xref: ICD9CM:265.2 xref: MESH:D010383 is_a: DOID:9002785 ! Vitamin B Deficiency [Term] id: DOID:8461 name: Aicardi syndrome alt_id: MIM:304050 def: "A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. (DO)" [http://en.wikipedia.org/wiki/Aicardi_syndrome "DO", http://ghr.nlm.nih.gov/condition/aicardi-syndrome "DO"] synonym: "Agenesis of Corpus Callosum with Chorioretinal Abnormality" EXACT [] synonym: "Agenesis of Corpus Callosum with Infantile Spasms and Ocular Abnormalities" EXACT [] synonym: "AIC" EXACT [] synonym: "Aicardi's Syndrome" EXACT [] synonym: "Callosal Agenesis and Ocular Abnormalities" EXACT [] synonym: "chorioretinal anomalies with ACC" EXACT [] xref: EFO:0000247 xref: GARD:5764 xref: MESH:D058540 xref: MONDO:0010568 xref: NCI:C35256 xref: ORDO:50 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:8463 name: corneal ulcer def: "Loss of epithelial tissue from the surface of the cornea due to progressive erosion and necrosis of the tissue; usually caused by bacterial, fungal, or viral infection." [MESH:D003320] synonym: "Ulcerative Keratitides" EXACT [] synonym: "Ulcerative Keratitis" EXACT [] xref: ICD10CM:H16.0 xref: ICD9CM:370.0 xref: MESH:D003320 xref: NCI:C50515 is_a: DOID:4677 ! keratitis is_a: DOID:9005175 ! Ulcer is_a: DOID:9008201 ! Eye Infections [Term] id: DOID:8464 name: flat retinoschisis xref: ICD9CM:361.11 is_a: DOID:8465 ! retinoschisis created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:8465 name: retinoschisis def: "A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis." [MESH:D041441] synonym: "Degenerative Retinoschises" EXACT [] synonym: "Degenerative Retinoschisis" EXACT [] synonym: "Juvenile Retinoschises" EXACT [] synonym: "Juvenile Retinoschisis" EXACT [] synonym: "Retinoschises" EXACT [] synonym: "RS" EXACT [] xref: ICD10CM:H33.10 xref: ICD9CM:361.10 xref: MESH:D041441 xref: NCI:C85046 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:8466 name: retinal degeneration alt_id: OMIA:001297 alt_id: OMIA:001346 alt_id: OMIA:001521 alt_id: OMIA:001572 alt_id: OMIA:001984 def: "A retinal disease that is characterized by deterioration of the retina caused by the progressive and eventual death of the cells of the retina. (DO)" [https://en.wikipedia.org/wiki/Retinal_degeneration_(rhodopsin_mutation) "DO"] synonym: "autosomal dominant PRA" NARROW [] synonym: "degeneration of retina" EXACT [] synonym: "early retinal degeneration" NARROW [] synonym: "generalized PRA" NARROW [] synonym: "PRA" NARROW [] synonym: "PRA 1" NARROW [] synonym: "PRA 2" NARROW [] synonym: "progressive retinal atrophy" NARROW [] synonym: "retina degeneration" EXACT [] synonym: "retinal degenerations" EXACT [] xref: MESH:D012162 xref: NCI:C34979 is_a: DOID:5679 ! retinal disease is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:8469 name: influenza def: "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenzavirus A, has_material_basis_in Influenzavirus B, or has_material_basis_in Influenzavirus C, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that affects birds and mammals and has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. (DO)" [http://www.merck.com/mmhe/sec17/ch198/ch198d.html "DO", http://www.who.int/mediacentre/factsheets/2003/fs211/en/ "DO"] synonym: "flu" EXACT [] synonym: "Grippe" EXACT [] synonym: "influenza with non-respiratory manifestation" EXACT [] synonym: "Influenza with other manifestations" EXACT [] xref: EFO:0007328 xref: ICD10CM:J11.1 xref: ICD9CM:487 xref: NCI:C53482 is_a: DOID:1579 ! respiratory system disease is_a: DOID:9001499 ! Orthomyxoviridae Infections created_by: rgd creation_date: 2016-08-18T00:00:00Z [Term] id: DOID:8472 name: localized scleroderma def: "A term used to describe a variety of localized asymmetrical SKIN thickening that is similar to those of SYSTEMIC SCLERODERMA but without the disease features in the multiple internal organs and BLOOD VESSELS. Lesions may be characterized as patches or plaques (morphea), bands (linear), or nodules." [MESH:D012594] synonym: "circumscribed or localised scleroderma" EXACT [] synonym: "circumscribed or localized scleroderma" EXACT [] synonym: "Circumscribed Scleroderma" EXACT [] synonym: "Frontal Linear Scleroderma en Coup de Sabre" EXACT [] synonym: "Linear Scleroderma" EXACT [] synonym: "localised morphea" EXACT [] synonym: "localised morphoea" EXACT [] synonym: "localised scleroderma" EXACT [] synonym: "localized morphea" EXACT [] synonym: "localized sclerodermas" EXACT [] synonym: "Morphea" EXACT [] synonym: "Morpheas" EXACT [] xref: EFO:1001361 xref: GARD:7058 xref: ICD10CM:L94.0 xref: ICD9CM:701.0 xref: MESH:D012594 xref: NCI:C72069 is_a: DOID:37 ! skin disease is_a: DOID:419 ! scleroderma [Term] id: DOID:8476 name: Whipple disease def: "A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS." [MESH:D008061] synonym: "Intestinal Lipodystrophy" EXACT [] synonym: "Whipple's disease" EXACT [] synonym: "Whipples disease" EXACT [] xref: EFO:0000775 xref: GARD:7889 xref: ICD10CM:K90.81 xref: ICD9CM:040.2 xref: MESH:D008061 xref: NCI:C85228 is_a: DOID:5295 ! intestinal disease is_a: DOID:8478 ! actinomycosis is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:8478 name: actinomycosis def: "A commensal bacterial infectious disease that results in infection, which is characterized by contiguous spread, suppurative and granulomatous inflammation, and formation of multiple abscesses and sinus tracts that may discharge sulfur granules, has_material_basis_in Actinomyces israelii, has_material_basis_in Actinomyces gerencseriae, has_material_basis_in Actinomyces naeslundii, has_material_basis_in Actinomyces odontolyticus, has_material_basis_in Actinomyces viscosus, has_material_basis_in Actinomyces meyeri, has_material_basis_in Propionibacterium propionicum, which require a break in the integrity of the mucous membranes and the presence of devitalized tissue to invade deeper body structures. (DO)" [http://en.wikipedia.org/wiki/Actinomycosis "DO"] synonym: "Actinomyces Infection" EXACT [] synonym: "Actinomyces Infections" EXACT [] synonym: "actinomycetoma" RELATED [] synonym: "Actinomycoses" EXACT [] synonym: "actinomycotic infection" EXACT [] synonym: "actinomycotic madura foot" EXACT [] synonym: "actinomycotic mycetema" EXACT [] synonym: "actinomycotic mycetoma of foot" EXACT [] synonym: "boil" RELATED [] synonym: "Madura foot due to Actinomadura" EXACT [] xref: EFO:0007128 xref: GARD:5728 xref: ICD10CM:A42 xref: ICD9CM:039.9 xref: MESH:D000196 xref: NCI:C34350 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:1579 ! respiratory system disease is_a: DOID:9000673 ! Actinomycetales Infections [Term] id: DOID:848 name: arthritis def: "A bone inflammation disease that involves a response to irritation or injury, characterized by joint pain, swelling, stiffness located_in joint. (DO)" [http://en.wikipedia.org/wiki/Arthritis "DO", http://www.arthritis.org/ "DO", http://www.nlm.nih.gov/medlineplus/ency/article/001243.htm "DO", https://www.cdc.gov/arthritis/index.htm "DO"] synonym: "Arthritides" EXACT [] synonym: "inflammatory disorder of joint" EXACT [] synonym: "Polyarthritides" EXACT [] synonym: "Polyarthritis" EXACT [] xref: EFO:0005856 xref: ICD10CM:M19.90 xref: MESH:D001168 xref: NCI:C2883 is_a: DOID:3342 ! bone inflammation disease is_a: DOID:381 ! arthropathy [Term] id: DOID:8481 name: rheumatic myocarditis synonym: "active rheumatic fever with myocarditis" EXACT [] synonym: "acute rheumatic carditis" EXACT [] synonym: "acute rheumatic myocarditis" EXACT [] synonym: "Rheumatic degeneration of myocardium" EXACT [] synonym: "rheumatic fever with myocarditis" EXACT [] synonym: "rheumatoid myocarditis" EXACT [] xref: ICD10CM:I01.9 xref: ICD10CM:M05.3 xref: ICD9CM:391.9 xref: ICD9CM:398.0 xref: NCI:C34985 is_a: DOID:0050827 ! rheumatic heart disease is_a: DOID:104 ! bacterial infectious disease is_a: DOID:820 ! myocarditis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:8482 name: transient retinal arterial occlusion xref: ICD10CM:H34.0 xref: ICD9CM:362.34 xref: NCI:C35193 is_a: DOID:8483 ! retinal artery occlusion created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8483 name: retinal artery occlusion def: "Sudden ISCHEMIA in the RETINA due to blocked blood flow through the CENTRAL RETINAL ARTERY or its branches leading to sudden complete or partial loss of vision, respectively, in the eye." [MESH:D015356] synonym: "Retinal Artery Occlusions" EXACT [] xref: EFO:1001154 xref: MESH:D015356 xref: NCI:C34978 is_a: DOID:0050828 ! artery disease is_a: DOID:1729 ! retinal vascular occlusion is_a: DOID:5679 ! retinal disease is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:8484 name: maple bark strippers' lung def: "An opportunistic mycosis that is located_in lungs caused by inhalation of fungal spores while stripping the bark from maple logs, has_material_basis_in Cryptostroma corticale. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/2735559 "DO"] synonym: "alveolitis due to cryptostroma corticale" EXACT [] synonym: "maple bark disease" EXACT [] synonym: "maple bark stripper's disease" EXACT [] synonym: "maple bark stripper's lung" EXACT [] xref: ICD10CM:J67.6 xref: ICD9CM:495.6 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:850 ! lung disease created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:8485 name: mucormycosis def: "An opportunistic mycosis that results_in fungal infection located_in sinuses, located_in brain, or located_in lungs of immunocompromised people, has_material_basis_in Mucorales molds. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000649.htm "DO"] synonym: "disseminated mucormycosis" EXACT [] synonym: "mucormycoses" EXACT [] xref: EFO:0007380 xref: MESH:D009091 is_a: DOID:2473 ! opportunistic mycosis is_a: DOID:9003117 ! Zygomycosis [Term] id: DOID:8488 name: polyhydramnios def: "A placenta disease that is characterized by an excess of amniotic fluid in the amniotic sac. (DO)" [http://en.wikipedia.org/wiki/Polyhydramnios "DO"] synonym: "Hydramnios" EXACT [] xref: ICD10CM:O40 xref: ICD9CM:657.0 xref: MESH:D006831 xref: NCI:C92848 is_a: DOID:780 ! placenta disease is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:849 name: rheumatoid arthritis interstitial lung disease def: "An interstitial lung disease that is characterized by the development of pleuroparenchymal disease secondary to rheumatoid arthritis, including pleural effusions, pleural fibrosis, pulmonary vascular disease, and airway complications. (DO)" [https://err.ersjournals.com/content/30/160/210011 "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2647595/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29119259 "DO"] synonym: "rheumatoid lung" EXACT [] synonym: "rheumatoid lung disease" EXACT [] xref: ICD9CM:714.81 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system is_a: DOID:3082 ! interstitial lung disease created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:8498 name: hereditary night blindness alt_id: OMIA:001876 synonym: "congenital night blindness" EXACT [] synonym: "Oguchi's disease" EXACT [] synonym: "Oguchi disease" EXACT [] synonym: "Stationary night blindness, Oguchi type" EXACT [] xref: ICD10CM:H53.63 xref: ICD9CM:368.61 xref: MESH:C537743 is_a: DOID:8499 ! night blindness is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:8499 name: night blindness def: "A retinal disease that is characterized by difficulty or the inability to see in relatively low light. (DO)" [https://en.wikipedia.org/wiki/Nyctalopia "DO"] synonym: "nyctalopia" EXACT [] synonym: "NYX-RELATED CONDITION" BROAD [] xref: ICD10CM:H53.6 xref: ICD9CM:368.6 xref: MESH:D009755 xref: MIM:310500 xref: NCI:C34850 xref: NCI:C37997 is_a: DOID:5679 ! retinal disease is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:850 name: lung disease def: "A lower respiratory tract disease in which the function of the lungs is adversely affected by narrowing or blockage of the airways resulting in poor air flow, a loss of elasticity in the lungs that produces a decrease in the total volume of air that the lungs are able to hold, and clotting, scarring, or inflammation of the blood vessels that affect the ability of the lungs to take up oxygen and to release carbon dioxide. (DO)" [http://www.niehs.nih.gov/health/topics/conditions/lung-disease/index.cfm "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000066.htm "DO"] synonym: "CHRONIC LUNG DISEASE" NARROW [] synonym: "LUNG DISEASE, NON-SPECIFIC" EXACT [] synonym: "lung diseases" EXACT [] synonym: "Pulmonary Disease" EXACT [] synonym: "Pulmonary Diseases" EXACT [] xref: EFO:0003818 xref: EFO:0009910 xref: EFO:1001362 xref: ICD10CM:J98.4 xref: MESH:D008171 xref: NCI:C3198 is_a: DOID:0050161 ! lower respiratory tract disease [Term] id: DOID:8500 name: hereditary retinal dystrophy xref: ICD9CM:362.7 xref: NCI:C35194 is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:8501 name: fundus dystrophy def: "A group of disorders involving predominantly the posterior portion of the ocular fundus, due to degeneration in the sensory layer of the RETINA; RETINAL PIGMENT EPITHELIUM; BRUCH MEMBRANE; CHOROID; or a combination of these tissues." [MESH:D058499] synonym: "retinal dystrophies" EXACT [] synonym: "Retinal Dystrophy" EXACT [] xref: MESH:D058499 xref: NCI:C35625 is_a: DOID:5614 ! eye disease is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:8502 name: bullous skin disease def: "A dermatitis that is characterized by blisters filled with a watery fluid, located_in skin. The disease is associated with the amount of gluten ingested. (DO)" [http://en.wikipedia.org/wiki/Dermatitis_herpetiformis "DO"] synonym: "autoimmune bullous skin disease" NARROW [] synonym: "bullous dermatoses" EXACT [] synonym: "bullous skin diseases" EXACT [] xref: EFO:0008598 xref: EFO:1000673 is_a: DOID:2723 ! dermatitis is_a: DOID:65 ! connective tissue disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:8503 name: impetigo herpetiformis def: "An impetigo that is characterized as a form of severe pustular psoriasis occurring in pregnancy. (DO)" [http://en.wikipedia.org/wiki/Impetigo_herpetiformis "DO"] xref: EFO:1000715 xref: ICD10CM:L40.1 xref: ICD9CM:694.3 is_a: DOID:8504 ! impetigo [Term] id: DOID:8504 name: impetigo def: "A pyoderma consisting of three forms of skin lesions having either a thick, adherent, recurrent, dirty yellow crust with an erythematous margin (common or superficial impetigo) or lessions which are superficial, thin-walled, and bullous as found in bullous impetigo. The lesions in bullous (staphylococcal) impetigo, which are always caused by S aureus, are superficial, thin-walled, and bullous. (DO)" [https://www.mayoclinic.org/diseases-conditions/impetigo/symptoms-causes/syc-20352352 "DO"] synonym: "impetigo contagiosa" EXACT [] xref: EFO:1000714 xref: ICD10CM:L01.0 xref: ICD9CM:684 xref: MESH:D007169 xref: NCI:C99088 is_a: DOID:4223 ! pyoderma is_a: DOID:9005966 ! Staphylococcal Skin Infections is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:8505 name: dermatitis herpetiformis def: "Rare, chronic, papulo-vesicular disease characterized by an intensely pruritic eruption consisting of various combinations of symmetrical, erythematous, papular, vesicular, or bullous lesions. The disease is strongly associated with the presence of HLA-B8 and HLA-DR3 antigens. A variety of different autoantibodies has been detected in small numbers in patients with dermatitis herpetiformis." [MESH:D003874] synonym: "Dermatosis herpetiformis" EXACT [MTHICD9_2006:694.0] synonym: "Duhring's Disease" EXACT [] synonym: "Duhring Disease" EXACT [] synonym: "Duhrings Disease" EXACT [] xref: EFO:1000684 xref: GARD:1917 xref: ICD10CM:L13.0 xref: ICD9CM:694.0 xref: MESH:D003874 xref: NCI:C26742 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:2731 ! vesiculobullous skin disease [Term] id: DOID:8506 name: bullous pemphigoid def: "A pemphigoid that is characterized by large blisters. (DO)" [https://rarediseases.org/rare-diseases/bullous-pemphigoid/ "DO"] synonym: "anti-p200 pemphigoid" NARROW [] synonym: "autoimmune bullous skin disease" EXACT [] xref: EFO:0007187 xref: EFO:0008597 xref: EFO:0008598 xref: GARD:5972 xref: ICD10CM:L12 xref: ICD10CM:L12.0 xref: ICD10CM:L12.9 xref: ICD9CM:694.5 xref: MESH:D010391 xref: NCI:C84389 is_a: DOID:0080841 ! pemphigoid [Term] id: DOID:8507 name: juvenile dermatitis herpetiformis xref: EFO:1000719 xref: ICD10CM:L12.2 xref: ICD9CM:694.2 is_a: DOID:8505 ! dermatitis herpetiformis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:8508 name: subcorneal pustular dermatosis synonym: "Sneddon Wilkinson Disease" EXACT [] synonym: "Sneddon-Wilkinson disease or syndrome" EXACT [] synonym: "Subcorneal Pustular Dermatoses" EXACT [] xref: EFO:1000771 xref: ICD10CM:L13.1 xref: ICD9CM:694.1 is_a: DOID:8502 ! bullous skin disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:851 name: Bartholin's duct cyst def: "A female reproductive system disease that is characterized by a fluid-filled swelling in the Bartholin's glands. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12887119 "DO"] synonym: "Bartholin's cyst" EXACT [SNOMEDCT_2005_07_31:57044006] synonym: "Bartholin duct cyst" EXACT [] synonym: "Cyst of Bartholin's gland" EXACT [SNOMEDCT_2005_07_31:155982004] synonym: "cyst of Bartholin's gland duct" EXACT [NCI2004_11_17:C26706] xref: ICD10CM:N75.0 xref: ICD9CM:616.2 xref: NCI:C26706 xref: RDO:9004595 is_a: DOID:60002 ! Bartholin's gland disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:8512 name: puerperal pulmonary embolism xref: ICD10CM:O88.21 xref: ICD9CM:673 is_a: DOID:9477 ! pulmonary embolism created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:8514 name: acute pulmonary heart disease xref: ICD9CM:415 is_a: DOID:8515 ! Cor pulmonale created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8515 name: Cor pulmonale def: "A congestive heart failure that involves a failure of the right side of the heart and is characterized by an enlargement of the right ventricle of the heart as a response to increased resistance or high blood pressure in the lungs. (DO)" [http://en.wikipedia.org/wiki/Cor_pulmonale "DO", http://en.wikipedia.org/wiki/Heart_disease "DO"] synonym: "cardiopulmonary disease" EXACT [] synonym: "pulmonary heart disease" EXACT [] synonym: "pulmonary heart diseases" EXACT [] xref: ICD10CM:I27.81 xref: MESH:D011660 is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:8516 name: pulmonary embolism and infarction def: "NECROSIS of lung tissue that is cause by the lack of OXYGEN or blood supply. The most common cause of pulmonary infarction is a blood clot in the lung." [MESH:D054060] synonym: "Pulmonary Infarction" EXACT [] synonym: "Pulmonary Infarctions" EXACT [] xref: EFO:1001408 xref: ICD9CM:415.1 xref: MESH:D054060 is_a: DOID:8514 ! acute pulmonary heart disease is_a: DOID:9477 ! pulmonary embolism [Term] id: DOID:8517 name: acute cor pulmonale xref: ICD10CM:I26.09 xref: ICD9CM:415 is_a: DOID:8514 ! acute pulmonary heart disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8519 name: barbiturate abuse def: "A substance abuse that involves the recurring use of barbiturate drugs despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Barbiturate "DO"] synonym: "barbiturate use disorder" EXACT [] xref: ICD10CM:F13.11 xref: ICD9CM:305.43 is_a: DOID:302 ! substance abuse created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:8527 name: monocytic leukemia def: "A myeloid leukemia that is characterized by a dominance of monocytes in the marrow. (DO)" [https://en.wikipedia.org/wiki/Monocytic_leukemia "DO"] synonym: "monocytic leukaemia" EXACT [] synonym: "Schilling's leukaemia" EXACT [] synonym: "Schilling's leukemia" EXACT [CSP2005:2004-2820] xref: ICD10CM:C93.Z xref: ICD9CM:206.8 xref: NCI:C21894 xref: RDO:9002322 is_a: DOID:8692 ! myeloid leukemia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:8529 name: ulcer of lower limbs def: "A chronic ulcer of skin where the ulcer is not a decubitus ulcer. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=ulcer "DO"] synonym: "Ulcer of ankle" EXACT [] synonym: "Ulcer of calf" EXACT [] synonym: "Ulcer of heel and midfoot" EXACT [] synonym: "Ulcer of thigh" EXACT [] xref: EFO:0007068 is_a: DOID:8549 ! chronic ulcer of skin [Term] id: DOID:853 name: polymyalgia rheumatica def: "A collagen disease that is characterized by pain, stiffness, and tenderness of the proximal muscle groups including the shoulder, pelvic girdle and the neck. (DO)" [https://medlineplus.gov/polymyalgiarheumatica.html "DO"] synonym: "Forestier Certonciny Syndrome" EXACT [] synonym: "Peri-Extra-Articular Rheumatism" EXACT [] synonym: "Rhizomelic Pseudopolyarthritides" EXACT [] synonym: "Rhizomelic Pseudopolyarthritis" EXACT [] xref: EFO:0008518 xref: ICD10CM:M35.3 xref: ICD9CM:725 xref: MESH:D011111 xref: NCI:C85018 is_a: DOID:1575 ! rheumatic disease is_a: DOID:423 ! myopathy is_a: DOID:854 ! collagen disease [Term] id: DOID:8533 name: hypopharynx cancer def: "A pharynx cancer that is located_in the hypopharynx. (DO)" [http://en.wikipedia.org/wiki/Hypopharynx "DO"] synonym: "EFO:0007321" EXACT [] synonym: "hypopharyngeal cancer" EXACT [] synonym: "hypopharyngeal cancers" EXACT [] synonym: "malignant hypopharyngeal tumor" EXACT [] synonym: "malignant neoplasm of hypopharynx" EXACT [] synonym: "malignant tumor of hypopharynx" EXACT [] synonym: "malignant tumour of hypopharynx" EXACT [] xref: EFO:0002938 xref: EFO:0007321 xref: GARD:9334 xref: ICD10CM:C13 xref: ICD10CM:C13.2 xref: ICD9CM:148 xref: ICD9CM:148.3 xref: NCI:C7190 is_a: DOID:0060119 ! pharynx cancer is_a: DOID:184 ! bone cancer is_a: DOID:9001607 ! Hypopharyngeal Neoplasms created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:8534 name: gastroesophageal reflux disease alt_id: MIM:109350 def: "Retrograde flow of gastric juice (GASTRIC ACID) and/or duodenal contents (BILE ACIDS; PANCREATIC JUICE) into the distal ESOPHAGUS, commonly due to incompetence of the LOWER ESOPHAGEAL SPHINCTER." [MESH:D005764] synonym: "acid reflux" EXACT [] synonym: "Esophageal Reflux" EXACT [] synonym: "gastresophageal reflux" EXACT [] synonym: "Gastric Acid Reflux" EXACT [] synonym: "Gastric Acid Reflux Disease" EXACT [] synonym: "Gastro Esophageal Reflux" EXACT [] synonym: "gastroesophageal reflux" EXACT [] synonym: "GASTROESOPHAGEAL REFLUX, PEDIATRIC" EXACT [] synonym: "gastro-oesophageal reflux" EXACT [] synonym: "GER" EXACT [] synonym: "GERD" EXACT [] synonym: "GERD - gastro-esophageal reflux disease" EXACT [] xref: EFO:0003948 xref: ICD10CM:K21 xref: ICD10CM:K21.9 xref: ICD9CM:530.81 xref: MESH:D005764 xref: NCI:C26781 is_a: DOID:9192 ! dyskinesia of esophagus [Term] id: DOID:8536 name: herpes zoster def: "A viral infectious disease that results_in infection located_in nerve fiber, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The virus is transmitted_by direct contact with the rash, which can develop into chickenpox in newly-infected individuals. The infection has_symptom rash which is followed by blisters, has_symptom headache, has_symptom fever, has_symptom malaise, has_symptom itching, has_symptom burning pain, and has_symptom paresthesia. (DO)" [http://en.wikipedia.org/wiki/Herpes_zoster "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000858.htm "DO"] synonym: "herpes zona" EXACT [] synonym: "shingles" EXACT [] synonym: "zona" EXACT [] synonym: "zoster" EXACT [] xref: EFO:0006510 xref: ICD10CM:B02 xref: ICD9CM:053 xref: MESH:D006562 xref: NCI:C71079 is_a: DOID:863 ! nervous system disease is_a: DOID:9004668 ! Varicella Zoster infection [Term] id: DOID:8538 name: reticulosarcoma synonym: "EFO:0005287" EXACT [] synonym: "histiocytic lymphoma" EXACT [] synonym: "large-cell lymphoma" EXACT [] synonym: "large-cell lymphomas" EXACT [] synonym: "reticulosarcomas" EXACT [] synonym: "reticulum cell sarcoma" EXACT [] synonym: "reticulum-cell sarcomas" EXACT [] xref: EFO:0005287 xref: ICD9CM:200.0 xref: MIM:267730 xref: NCI:C134780 xref: NCI:C27824 is_a: DOID:0060060 ! non-Hodgkin lymphoma is_a: DOID:0060073 ! lymphatic system cancer created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:854 name: collagen disease def: "A connective tissue disease that characterized by connective tissue disease that has_material_basis_in inheritable defects in collagen. (DO)" [https://en.wikipedia.org/wiki/Connective_tissue_disease "DO"] synonym: "collagen diseases" EXACT [] synonym: "collagen disorder" EXACT [] xref: MESH:D003095 xref: NCI:C27204 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:8541 name: Sezary's disease def: "A form of cutaneous T-cell lymphoma manifested by generalized exfoliative ERYTHRODERMA; PRURITUS; peripheral lymphadenopathy, and abnormal hyperchromatic mononuclear (cerebriform) cells in the skin, LYMPH NODES, and peripheral blood (Sezary cells)." [MESH:D012751] synonym: "EFO:1000785" EXACT [] synonym: "Sezary's Lymphoma" EXACT [] synonym: "Sezary disease" EXACT [] synonym: "Sezary Erythroderma" EXACT [] synonym: "Sezary Lymphoma" EXACT [] synonym: "Sezarys Lymphoma" EXACT [] synonym: "Sezary syndrome" EXACT [] synonym: "SEZARY SYNDROME, SOMATIC" NARROW [] xref: EFO:1000785 xref: GARD:7629 xref: ICD10CM:C84.1 xref: ICD9CM:202.2 xref: MESH:D012751 xref: NCI:C3366 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:8543 name: Hodgkin's lymphoma, lymphocytic-histiocytic predominance synonym: "Hodgkin's disease, lymphocyte predominance" EXACT [SNOMEDCT_2005_07_31:128799007] synonym: "Hodgkin lymphoma, lymphocyte-rich" EXACT [] synonym: "Hodgkin lymphoma, lymphocytic-histiocytic predominance" EXACT [] synonym: "Lymphocyte Rich Hodgkin's disease" EXACT [] xref: ICD10CM:C81.4 xref: ICD9CM:201.4 xref: NCI:C6913 xref: RDO:9004173 is_a: DOID:8567 ! Hodgkin's lymphoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8544 name: chronic fatigue syndrome def: "A syndrome that involves prolonged and severe tiredness or weariness that is unrelated to exertion, is not relieved by rest and for a minimum of six months and is not directly caused by other conditions. (DO)" [http://en.wikipedia.org/wiki/Chronic_fatigue_syndrome "DO"] synonym: "CFS" EXACT [] synonym: "chronic fatigue and immune dysfunction syndrome" EXACT [] synonym: "Chronic Fatigue Disorder" EXACT [] synonym: "chronic fatigue disorders" EXACT [] synonym: "Chronic Fatigue Fibromyalgia Syndrome" EXACT [] synonym: "chronic fatigue-fibromyalgia syndromes" EXACT [] synonym: "Chronic Fatigue Syndromes" EXACT [] synonym: "Infectious Mononucleosis Like Syndrome, Chronic" EXACT [] synonym: "myalgic encephalitis" EXACT [] synonym: "Myalgic Encephalomyelitis" EXACT [] synonym: "myalgic encephalomyelitis/chronic fatigue syndrome" EXACT [] synonym: "postviral fatigue syndrome" EXACT [] synonym: "postviral fatigue syndromes" EXACT [] synonym: "royal free disease" EXACT [] xref: EFO:0004540 xref: GARD:7121 xref: ICD10CM:G93.32 xref: ICD10CM:R53.82 xref: ICD9CM:780.71 xref: MESH:D015673 xref: MONDO:0005404 xref: NCI:C3037 xref: ORDO:1983 is_a: DOID:0080000 ! muscular disease is_a: DOID:225 ! syndrome is_a: DOID:440 ! neuromuscular disease is_a: DOID:640 ! encephalomyelitis is_a: DOID:934 ! viral infectious disease [Term] id: DOID:8545 name: malignant hyperthermia alt_id: MESH:C535694 alt_id: MESH:C535695 alt_id: MESH:C535696 alt_id: MESH:C535697 alt_id: MESH:C535698 alt_id: MESH:C535699 alt_id: MIM:145600 alt_id: MIM:154275 alt_id: MIM:154276 alt_id: MIM:600467 alt_id: MIM:601887 alt_id: MIM:601888 alt_id: OMIA:000621 def: "A muscle tissue disease that is characterized by a drastic and uncontrolled increase in skeletal muscle oxidative metabolism, which overwhelms the body's capacity to supply oxygen, remove carbon dioxide, and regulate body temperature and that has_material_basis_in heterozygous mutation in the ryanodine receptor gene (RYR1) on chromosome 19q13. Manifestations of malignant hyperthermia (MH) are precipitated by certain volatile anesthetics (i.e., halothane, isoflurane, sevoflurane, desflurane, enflurane), either alone or in conjunction with a depolarizing muscle relaxant (specifically, succinylcholine). (DO)" [http://en.wikipedia.org/wiki/Malignant_hyperthermia "DO"] synonym: "anesthesia hyperthermia" EXACT [] synonym: "anesthesia hyperthermias" EXACT [] synonym: "anesthesia related hyperthermia" EXACT [] synonym: "anesthesia related hyperthermias" EXACT [] synonym: "EXERCISE-INDUCED MALIGNANT HYPERTHERMIA" NARROW [] synonym: "hyperthermia of anesthesia" NARROW [] synonym: "KING-DENBOROUGH SYNDROME" NARROW [] synonym: "malignant hyperpyrexia" EXACT [] synonym: "malignant hyperpyrexia due to anesthesia" EXACT [] synonym: "malignant hyperpyrexias" EXACT [] synonym: "malignant hyperpyrexia susceptibility type 2" RELATED [] synonym: "malignant hyperpyrexia susceptibility type 3" RELATED [] synonym: "malignant hyperpyrexia susceptibility type 4" RELATED [] synonym: "malignant hyperpyrexia susceptibility type 5" RELATED [] synonym: "malignant hyperpyrexia susceptibility type 6" RELATED [] synonym: "Malignant hyperthermia and exertional rhabdomyolosis" NARROW [] synonym: "malignant hyperthermia equivocal with halothane" EXACT [] synonym: "MALIGNANT HYPERTHERMIA OF ANESTHESIA" EXACT [] synonym: "malignant hyperthermias" EXACT [] synonym: "malignant hyperthermia susceptibility" RELATED [] synonym: "malignant hyperthermia, susceptibility to, 1" RELATED [] synonym: "malignant hyperthermia, susceptibility to, 2" RELATED [] synonym: "malignant hyperthermia, susceptibility to, 3" RELATED [] synonym: "malignant hyperthermia, susceptibility to, 4" RELATED [] synonym: "malignant hyperthermia, susceptibility to, 5" RELATED [] synonym: "malignant hyperthermia, susceptibility to, 6" RELATED [] synonym: "malignant hyperthermia susceptibility type 1" RELATED [] synonym: "malignant hyperthermia susceptibility type 2" RELATED [] synonym: "malignant hyperthermia susceptibility type 3" RELATED [] synonym: "malignant hyperthermia susceptibility type 4" RELATED [] synonym: "malignant hyperthermia susceptibility type 5" RELATED [] synonym: "malignant hyperthermia susceptibility type 6" RELATED [] synonym: "MH King syndrome" NARROW [] synonym: "MHS" EXACT [] synonym: "MHS1" RELATED [] synonym: "MHS2" RELATED [] synonym: "MHS3" RELATED [] synonym: "MHS4" RELATED [] synonym: "MHS5" RELATED [] synonym: "MHS6" RELATED [] xref: GARD:6964 xref: ICD10CM:T88.3 xref: ICD9CM:995.86 xref: MESH:D008305 xref: MIM:PS145600 xref: NCI:C84869 xref: ORDO:423 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:66 ! muscle tissue disease is_a: DOID:9000790 ! Postoperative Complications is_a: DOID:9006553 ! Hyperthermia is_a: DOID:9007171 ! Intraoperative Complications [Term] id: DOID:8549 name: chronic ulcer of skin def: "An ULCER of the skin and underlying tissues." [MESH:D012883] synonym: "callous ulcer" EXACT [] synonym: "indolent ulcer" EXACT [] synonym: "skin ulcer" EXACT [] synonym: "skin ulcers" EXACT [] xref: EFO:0007066 xref: ICD10CM:L98.4 xref: ICD9CM:707 xref: MESH:D012883 is_a: DOID:37 ! skin disease is_a: DOID:9005175 ! Ulcer [Term] id: DOID:8552 name: chronic myeloid leukemia alt_id: MIM:608232 def: "A myeloid leukemia that is characterized by over production of white blood cells. (DO)" [http://www.cancer.gov/dictionary?CdrID=46755 "DO"] synonym: "ABL1-RELATED CONDITION" BROAD [] synonym: "ABL1-RELATED DISORDER" BROAD [] synonym: "chronic granulocytic leukaemia" EXACT [] synonym: "chronic granulocytic leukemia" EXACT [] synonym: "chronic granulocytic leukemias" EXACT [] synonym: "chronic myelocytic leukemia" EXACT [] synonym: "chronic myelocytic leukemias" EXACT [] synonym: "chronic myelogenous leukaemia" EXACT [] synonym: "chronic myelogenous leukemia" EXACT [] synonym: "chronic myelogenous leukemia, BCR-ABL positive" EXACT [] synonym: "chronic myelogenous leukemias" EXACT [] synonym: "chronic myeloid leukaemia" EXACT [] synonym: "CHRONIC MYELOID LEUKEMIA, RESISTANT TO IMATINIB" NARROW [] synonym: "Chronic Myeloid Leukemias" EXACT [] synonym: "CML" EXACT [] synonym: "CML - chronic myelogenous leukemia" EXACT [] synonym: "EFO:0000339" EXACT [] synonym: "Ph1-positive myelogenous leukemia" EXACT [] synonym: "Ph1-positive myelogenous leukemias" EXACT [] synonym: "PH1-positive myeloid leukemia" EXACT [] synonym: "PH1-positive myeloid leukemias" EXACT [] synonym: "Philadelphia chromosome-positive leukemia, resistant to imatinib" NARROW [] synonym: "Philadelphia-positive myeloid leukemia" EXACT [] xref: EFO:0000339 xref: EFO:0000340 xref: GARD:6105 xref: ICD9CM:205.1 xref: ICDO:9863/3 xref: MESH:D015464 xref: NCI:C3174 xref: ORDO:521 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:8553 name: pyoderma gangrenosum def: "An idiopathic, rapidly evolving, and severely debilitating disease occurring most commonly in association with chronic ulcerative colitis. It is characterized by the presence of boggy, purplish ulcers with undermined borders, appearing mostly on the legs. The majority of cases are in people between 40 and 60 years old. Its etiology is unknown." [MESH:D017511] synonym: "PASH syndrome" NARROW [] synonym: "Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome" NARROW [] xref: EFO:0006835 xref: EFO:0009009 xref: GARD:7510 xref: ICD10CM:L88 xref: ICD9CM:686.01 xref: MESH:D017511 is_a: DOID:4223 ! pyoderma is_a: DOID:8549 ! chronic ulcer of skin is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:8556 name: vallecula cancer synonym: "malignant tumor of vallecula" EXACT [SNOMEDCT_2005_07_31:363395000] xref: ICD10CM:C10.0 xref: ICD9CM:146.3 is_a: DOID:8557 ! oropharynx cancer [Term] id: DOID:8557 name: oropharynx cancer def: "A pharynx cancer that is located_in the oropharynx. (DO)" [http://www.cancer.gov/dictionary?CdrID=446523 "DO"] synonym: "cancer of oropharnyx" EXACT [] synonym: "cancer of the oropharynx" EXACT [] synonym: "EFO:1001931" EXACT [] synonym: "malignant neoplasm of oropharynx" EXACT [] synonym: "malignant oropharyngeal tumor" EXACT [] synonym: "malignant tumor of oropharynx" EXACT [] synonym: "malignant tumour of mesopharynx" EXACT [] synonym: "Oropharnyx Cancer" EXACT [] synonym: "Oropharnyx Cancers" EXACT [] synonym: "oropharyngeal cancer" EXACT [] synonym: "Oropharyngeal Cancers" EXACT [] synonym: "oropharyngeal carcinoma" EXACT [] synonym: "oropharynx cancers" EXACT [] xref: EFO:1001931 xref: ICD10CM:C10 xref: ICD10CM:C10.2 xref: ICD10CM:C10.3 xref: ICD10CM:C10.8 xref: ICD9CM:146 xref: ICD9CM:146.5 xref: ICD9CM:146.6 xref: ICD9CM:146.7 xref: NCI:C7398 is_a: DOID:0060119 ! pharynx cancer is_a: DOID:9000906 ! Oropharyngeal Neoplasms [Term] id: DOID:856 name: biotinidase deficiency def: "A multiple carboxylase deficiency that involves a deficiency in biotinidase as the body is not able to use biotin and results in biotin deficiency, and has_material_basis_in homozygous or compound heterozygous mutation in the BTD gene on chromosome 3p25. (DO)" [http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79241 "DO"] synonym: "biotinidase deficiencies" EXACT [] synonym: "BTD deficiencies" EXACT [] synonym: "BTD deficiency" EXACT [] synonym: "deficiency of biotinidase" EXACT [] synonym: "juvenile-onset multiple carboxylase deficiency" EXACT [] synonym: "late onset biotin responsive multiple carboxylase deficiency" EXACT [] synonym: "late onset multiple carboxylase deficiency" EXACT [] xref: GARD:894 xref: ICD10CM:D81.810 xref: MESH:C565365 xref: MESH:D028921 xref: MIM:253260 xref: MONDO:0009665 xref: NCI:C84598 xref: ORDO:79241 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:857 ! multiple carboxylase deficiency [Term] id: DOID:8564 name: lip cancer synonym: "EFO:1001019" EXACT [] synonym: "malignant neoplasm of commissure of lip" EXACT [] synonym: "malignant neoplasm of external lip, not specified as upper or lower" EXACT [] synonym: "malignant neoplasm of labial commissure of lip" EXACT [] synonym: "malignant neoplasm of lip" EXACT [] synonym: "malignant neoplasm of lip, external" EXACT [] synonym: "malignant neoplasm of lip, inner aspect" EXACT [] synonym: "malignant neoplasm of lip, vermilion border" EXACT [] synonym: "malignant neoplasm of lower lip, buccal aspect" EXACT [] synonym: "malignant neoplasm of lower lip, inner aspect" EXACT [] synonym: "malignant neoplasm of lower lip, mucosa" EXACT [] synonym: "malignant neoplasm of lower lip, oral aspect" EXACT [] synonym: "malignant neoplasm of oral aspect of lip, not specified whether upper or lower" EXACT [] synonym: "malignant neoplasm of other sites of lip" EXACT [] synonym: "malignant neoplasm of vermilion border of lip" EXACT [] synonym: "malignant tumor of commissure of lip" EXACT [] synonym: "malignant tumor of labial mucosa" EXACT [] synonym: "malignant tumor of lip" EXACT [] synonym: "malignant tumor of lower labial mucosa" EXACT [] synonym: "malignant tumor of the lip" EXACT [] synonym: "malignant tumour of labial commissure" EXACT [] synonym: "malignant tumour of lip" EXACT [] xref: EFO:1001019 xref: ICD10CM:C00 xref: ICD9CM:140 xref: ICD9CM:140.6 xref: ICD9CM:140.8 xref: NCI:C7485 is_a: DOID:8618 ! oral cavity cancer is_a: DOID:9007400 ! Lip Neoplasms created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8566 name: herpes simplex def: "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. (DO)" [http://en.wikipedia.org/wiki/Herpes_simplex "DO", https://www.aad.org/public/diseases/a-z/herpes-simplex-overview "DO"] synonym: "Herpes simplex virus 2 seropositivity" RELATED [] synonym: "Herpesvirus hominis disease" EXACT [] xref: EFO:0009339 xref: EFO:1002022 xref: ICD10CM:B00.9 xref: ICD9CM:054 xref: MESH:D006561 xref: NCI:C155871 is_a: DOID:9001063 ! Viral Skin Diseases is_a: DOID:9002834 ! Herpesviridae Infections [Term] id: DOID:8567 name: Hodgkin's lymphoma alt_id: MIM:236000 def: "A lymphoma that is marked by the presence of a type of cell called the Reed-Sternberg cell. (DO)" [https://en.wikipedia.org/wiki/Hodgkin%27s_lymphoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/22835602 "DO"] synonym: "adult Hodgkin lymphoma" EXACT [] synonym: "CHL" EXACT [] synonym: "classical Hodgkin's lymphoma" NARROW [] synonym: "EFO:0000183" EXACT [] synonym: "HL" EXACT [] synonym: "Hodgkin's Disease" EXACT [] synonym: "Hodgkin's sarcoma" EXACT [] synonym: "Hodgkin disease" EXACT [] synonym: "Hodgkin lymphoma" EXACT [] synonym: "Hodgkins Disease" EXACT [] synonym: "Hodgkins Lymphoma" EXACT [] synonym: "Lymphocyte Depletion Hodgkin's Lymphoma" EXACT [] synonym: "Lymphocyte Rich Classical Hodgkin's Lymphoma" EXACT [] synonym: "LYMPHOMA, HODGKIN, CLASSIC" EXACT [] synonym: "Malignant Granuloma" EXACT [] synonym: "Malignant Granulomas" EXACT [] synonym: "malignant lymphogranuloma" EXACT [] synonym: "malignant lymphogranulomas" EXACT [] synonym: "nodular lymphocyte predominant Hodgkin's lymphoma" EXACT [] synonym: "nodular sclerosing Hodgkin's lymphoma" EXACT [] synonym: "Splenic Hodgkin Lymphoma" NARROW [] synonym: "stage II subdiaphragmatic Hodgkin lymphoma" EXACT [] synonym: "stage I subdiaphragmatic Hodgkin lymphoma" EXACT [] xref: EFO:0000183 xref: EFO:0000346 xref: EFO:1000548 xref: GARD:2714 xref: ICD10CM:C81 xref: ICD9CM:201 xref: MESH:D006689 xref: NCI:C9357 xref: ORDO:98293 is_a: DOID:0060058 ! lymphoma [Term] id: DOID:8568 name: infectious mononucleosis def: "A viral infectious disease that results in inflammation, located in pharynx, has_material_basis_in Human herpesvirus 4 and has symptom fever, has symptom fatigue, has symptom lymphadenopathy, and has symptom splenomegaly. (DO)" [http://en.wikipedia.org/wiki/Infectious_mononucleosis "DO", http://www.cdc.gov/ncidod/diseases/ebv.htm "DO"] synonym: "Filatov's disease" EXACT [] synonym: "gammaherpesviral mononucleosis" EXACT [] synonym: "Glandular Fever" EXACT [] synonym: "monocytic angina" EXACT [] synonym: "mononucleosis" EXACT [] synonym: "Pfeiffer's disease" EXACT [] xref: EFO:0007326 xref: ICD10CM:B27 xref: ICD9CM:075 xref: MESH:D007244 xref: NCI:C34726 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:2938 ! Epstein-Barr virus infectious disease is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:857 name: multiple carboxylase deficiency def: "An amino acid metabolic disorder that involves failures of carboxylation enzymes. (DO)" [http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=148 "DO"] synonym: "combined carboxylase deficiencies" EXACT [] synonym: "Combined Carboxylase Deficiency" EXACT [] synonym: "multiple carboxylase deficiencies" EXACT [] xref: GARD:3824 xref: ICD10CM:D81.81 xref: MESH:D009100 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:8573 name: lichen nitidus def: "A chronic inflammatory disease characterized by shiny, flat-topped, usually flesh-colored micropapules no larger than the head of a pin. Lesions are localized in the early stages, found chiefly on the lower abdomen, penis, and inner surface of the thighs. Distribution may become generalized as the disease progresses." [MESH:D017513] synonym: "Pinkus' disease" EXACT [MTHICD9_2006:697.1] xref: EFO:1000725 xref: ICD10CM:L44.1 xref: ICD9CM:697.1 xref: MESH:D017513 xref: RDO:0007048 is_a: DOID:8574 ! lichen disease [Term] id: DOID:8574 name: lichen disease def: "Conditions in which there is histological damage to the lower epidermis along with a grouped chronic inflammatory infiltrate in the papillary dermis disturbing the interface between the epidermis and dermis. LICHEN PLANUS is the prototype of all lichenoid eruptions. (From Rook et al., Textbook of Dermatology, 4th ed, p398)" [MESH:D017512] synonym: "Licheniform Eruption" EXACT [] synonym: "licheniform eruptions" EXACT [] synonym: "Lichenoid Eruption" EXACT [] synonym: "lichenoid eruptions" EXACT [] xref: EFO:1000724 xref: ICD10CM:L28.0 xref: ICD9CM:697.9 xref: MESH:D017512 is_a: DOID:9008246 ! Papulosquamous Skin Diseases [Term] id: DOID:8577 name: ulcerative colitis def: "A colitis that is predominantly confined to the mucosa located_in colon and includes characteristic ulcers, or open sores. (DO)" [http://en.wikipedia.org/wiki/Ulcerative_colitis "DO", https://meshb.nlm.nih.gov/record/ui?ui=D003093 "DO"] synonym: "colitis gravis" EXACT [] synonym: "distal colitis" NARROW [] synonym: "Idiopathic Proctocolitis" EXACT [] synonym: "inflammatory bowel disease, ulcerative colitis type" EXACT [] synonym: "left-sided ulcerative colitis" NARROW [] xref: EFO:0000729 xref: EFO:0005623 xref: ICD10CM:K51 xref: ICD9CM:556 xref: ICD9CM:556.5 xref: MESH:D003093 xref: NCI:C2952 is_a: DOID:0060031 ! autoimmune disease of gastrointestinal tract is_a: DOID:0060180 ! colitis [Term] id: DOID:8578 name: soft palate cancer synonym: "malignant tumor of soft palate" EXACT [SNOMEDCT_2005_07_31:363388009] synonym: "malignant tumor of the soft Palate" EXACT [NCI2004_11_17:C3529] xref: ICD10CM:C05.1 xref: ICD9CM:145.3 xref: NCI:C3529 is_a: DOID:8618 ! oral cavity cancer is_a: DOID:9005313 ! Palatal Neoplasms [Term] id: DOID:8584 name: Burkitt lymphoma alt_id: MIM:113970 def: "A mature B-cell neoplasm of B-cells found in the germinal center. (DO)" [http://en.wikipedia.org/wiki/Burkitt%27s_lymphoma "DO", http://www.cancer.gov/dictionary?CdrID=45203 "DO"] synonym: "African lymphoma" EXACT [] synonym: "BL" EXACT [] synonym: "Burkitt's Leukemia" EXACT [] synonym: "Burkitt's Lymphoma" EXACT [] synonym: "Burkitt's Tumor" EXACT [] synonym: "Burkitt's tumor or lymphoma" EXACT [] synonym: "Burkitt Cell Leukemia" EXACT [] synonym: "Burkitt Leukemia" EXACT [] synonym: "Burkitt lymphoma/leukaemia" EXACT [] synonym: "Burkitts Leukemia" EXACT [] synonym: "Burkitts Lymphoma" EXACT [] synonym: "Burkitts Tumor" EXACT [] synonym: "Burkitt Tumor" EXACT [] synonym: "Colon Burkitt Lymphoma" NARROW [] synonym: "EFO:0000309" EXACT [] synonym: "Epstein-Barr virus-related Burkitts lymphoma" NARROW [] synonym: "L3 Lymphocytic Leukemia" EXACT [] synonym: "L3 lymphocytic leukemias" EXACT [] synonym: "lymphoblastic leukemia, Burkitt-type" EXACT [] synonym: "malignant lymphoma, Burkitt's type" EXACT [] synonym: "Small Intestinal Burkitt Lymphoma" NARROW [] synonym: "small non-cleaved cell lymphoma, Burkitt's type" EXACT [] xref: EFO:0000309 xref: EFO:1000182 xref: EFO:1000533 xref: EFO:1001954 xref: GARD:5973 xref: ICD10CM:C83.7 xref: ICD9CM:200.2 xref: ICDO:9687/3 xref: MESH:D002051 xref: NCI:C2912 xref: NCI:C7400 xref: ORDO:543 is_a: DOID:2938 ! Epstein-Barr virus infectious disease is_a: DOID:706 ! mature B-cell neoplasm [Term] id: DOID:859 name: holocarboxylase synthetase deficiency alt_id: MIM:253270 def: "A multiple carboxylase deficiency that involves a deficiency in holocarboxylase synthetase. (DO)" [http://en.wikipedia.org/wiki/Multiple_carboxylase_deficiency "DO"] synonym: "biotin-(propionyl-CoA-carboxylase) ligase deficiency" EXACT [] synonym: "Early Onset Biotin Responsive Multiple Carboxylase Deficiency" EXACT [] synonym: "Early Onset Combined Carboxylase Deficiency" EXACT [] synonym: "HLCS Deficiencies" EXACT [] synonym: "HLCS Deficiency" EXACT [] synonym: "Holocarboxylase Synthetase Deficiencies" EXACT [] synonym: "Infantile Multiple Carboxylase Deficiency" EXACT [] synonym: "Multiple Carboxylase Deficiency, Early Onset" EXACT [] synonym: "Multiple Carboxylase Deficiency, Neonatal Form" EXACT [] synonym: "multiple carboxylase deficiency - neonatal onset" EXACT [] xref: GARD:2721 xref: ICD10CM:D81.818 xref: MESH:D028922 xref: NCI:C98842 xref: NCI:C99247 is_a: DOID:857 ! multiple carboxylase deficiency [Term] id: DOID:8590 name: acute vascular insufficiency of intestine synonym: "acute gastrointestinal tract vascular insuffic." EXACT [SNOMEDCT_2005_07_31:266519001] synonym: "acute GIT vascular insuffic." EXACT [SNOMEDCT_2005_07_31:155766009] synonym: "acute intestinal Ischemia" EXACT [NCI2004_11_17:C34356] synonym: "acute intestinal vascular insufficiency" EXACT [SNOMEDCT_2005_07_31:196998009] xref: ICD9CM:557.0 xref: NCI:C34356 xref: RDO:9004392 is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8593 name: chronic monocytic leukemia synonym: "chronic monocytic leukemias" EXACT [] xref: ICD10CM:C93.1 xref: ICD9CM:206.1 xref: NCI:C34774 xref: RDO:9002325 is_a: DOID:8527 ! monocytic leukemia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:8596 name: scarlet fever def: "An upper respiratory tract disease described as an acute contagious disease caused by Group A bacteria of the genus Streptococcus (especially various strains of S. pyogenes) and characterized by inflammation of the nose, throat, and mouth, generalized toxemia, and a red rash. (DO)" [https://www.merriam-webster.com/dictionary/scarlet%20fever#medicalDictionary "DO"] synonym: "scarlatina" EXACT [] synonym: "scarlet fevers" EXACT [] xref: EFO:0007477 xref: ICD10CM:A38 xref: ICD9CM:034 xref: ICD9CM:034.1 xref: MESH:D012541 xref: MONDO:0005952 xref: NCI:C94575 is_a: DOID:9006844 ! Streptococcal Infections is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:8601 name: upper gum cancer synonym: "malignant tumor of upper gingiva" EXACT [] synonym: "malignant tumour of upper gum" EXACT [SNOMEDCT_2005_07_31:94114005] xref: ICD10CM:C03.0 xref: ICD9CM:143.0 is_a: DOID:8602 ! gum cancer [Term] id: DOID:8602 name: gum cancer synonym: "EFO:0005557" EXACT [] synonym: "malignant Gingival tumor" EXACT [NCI2004_11_17:C9317] synonym: "malignant neoplasm of gum" EXACT [] synonym: "malignant neoplasm of other sites of gum" EXACT [SNOMEDCT_2005_07_31:187650006] synonym: "malignant tumor of gum" EXACT [SNOMEDCT_2005_07_31:363382005] synonym: "malignant tumour of gingiva" EXACT [SNOMEDCT_2005_07_31:93819009] xref: EFO:0005557 xref: ICD10CM:C03 xref: ICD9CM:143 xref: NCI:C9317 is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:8607 name: herpetic whitlow def: "A herpes simplex that results_in infection located_in skin of the finger, toe, or thumb, has_material_basis_in Human herpesvirus 1 and has_material_basis_in Human herpesvirus 2 and has_symptom lesions, has_symptom fever, and has_symptom swollen lymph nodes. (DO)" [http://en.wikipedia.org/wiki/Herpetic_whitlow "DO"] synonym: "Herpetic felon" EXACT [MTHICD9_2006:054.6] xref: ICD9CM:054.6 xref: NCI:C128402 xref: RDO:9002365 is_a: DOID:8566 ! herpes simplex created_by: rgd creation_date: 2017-09-29T00:00:00Z [Term] id: DOID:8616 name: Peyronie's disease alt_id: MIM:171000 def: "A condition characterized by hardening of the PENIS due to the formation of fibrous plaques on the dorsolateral aspect of the PENIS, usually involving the membrane (tunica albuginea) surrounding the erectile tissue (corpus cavernosum penis). This may eventually cause a painful deformity of the shaft or constriction of the urethra, or both." [MESH:D010411] synonym: "fibrous cavernitides" EXACT [] synonym: "fibrous cavernitis" EXACT [] synonym: "induratio penis plastica" EXACT [] synonym: "Penile Fibromatosis" EXACT [] synonym: "penile induration" EXACT [] synonym: "Peyronie's fibromatosis" EXACT [] synonym: "Peyronie Disease" EXACT [] synonym: "Peyronies disease" EXACT [] synonym: "plastic induration of the penis" EXACT [] xref: EFO:1000466 xref: GARD:7379 xref: ICD10CM:N48.6 xref: ICD9CM:607.85 xref: MESH:D010411 xref: NCI:C3316 is_a: DOID:1529 ! penile disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:8618 name: oral cavity cancer def: "A gastrointestinal system cancer that is located_in the oral cavity. (DO)" [http://en.wikipedia.org/wiki/Oral_cancer "DO"] synonym: "EFO:0005570" EXACT [] synonym: "malignant neoplasm of floor of mouth" EXACT [] xref: EFO:0005570 xref: GARD:9360 xref: ICD10CM:C04 xref: ICD10CM:C04.0 xref: ICD10CM:C04.1 xref: ICD9CM:144 xref: ICD9CM:144.0 xref: ICD9CM:144.1 xref: NCI:C9318 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:9007364 ! Mouth Neoplasms [Term] id: DOID:8619 name: recurrent hypersomnia def: "A sleep disorder that involves recurring bouts of excessive amounts of sleepiness. (DO)" [http://en.wikipedia.org/wiki/Hypersomnia "DO"] synonym: "disorders of excessive somnolence" EXACT [] synonym: "DOES (Disorders of Excessive Somnolence)" EXACT [] synonym: "Excessive Somnolence Disorder" EXACT [] synonym: "excessive somnolence disorders" EXACT [] synonym: "Hypersomnia" EXACT [] synonym: "Hypersomnias" EXACT [] synonym: "Hypersomnolence" EXACT [] synonym: "Hypersomnolence Disorder" EXACT [] synonym: "Hypersomnolence Disorders" EXACT [] synonym: "Primary Hypersomnolence Disorder" EXACT [] synonym: "Primary Hypersomnolence Disorders" EXACT [] synonym: "primary recurrent hypersomnia" EXACT [] synonym: "Recurrent Hypersomnias" EXACT [] synonym: "secondary hypersomnolence disorder" EXACT [] xref: EFO:0005246 xref: ICD10CM:G47.13 xref: ICD9CM:327.13 xref: MESH:D006970 is_a: DOID:9000166 ! Intrinsic Sleep Disorders [Term] id: DOID:862 name: diplegia of upper limb synonym: "Diplegia of upper limbs" EXACT [SNOMEDCT_2005_07_31:54099005] synonym: "Diplegia, upper" EXACT [MTHICD9_2006:344.2] xref: ICD10CM:G83.0 xref: ICD9CM:344.2 is_a: DOID:863 ! nervous system disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:8622 name: measles def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. (DO)" [http://en.wikipedia.org/wiki/Measles "DO"] synonym: "morbilli" EXACT [] synonym: "rubeola" EXACT [] xref: EFO:1002025 xref: GARD:3434 xref: ICD10CM:B05 xref: ICD9CM:055 xref: MESH:D008457 xref: NCI:C96406 is_a: DOID:9003860 ! Morbillivirus Infections [Term] id: DOID:8628 name: Hodgkin's lymphoma, lymphocytic depletion synonym: "Hodgkin's disease, lymphocytic depletion" EXACT [SNOMEDCT_2005_07_31:118610003] synonym: "Hodgkin's lymphocytic depletion of unspecified site" EXACT [SNOMEDCT_2005_07_31:188584004] synonym: "Hodgkin lymphoma, lymphocyte depletion" EXACT [SNOMEDCT_2005_07_31:112687003] synonym: "Lymphocyte-Depleted Classical Hodgkin Lymphoma" EXACT [NCI2004_11_17:C9283] xref: ICD10CM:C81.3 xref: ICD9CM:201.7 xref: NCI:C9283 xref: RDO:9004175 is_a: DOID:8567 ! Hodgkin's lymphoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:863 name: nervous system disease def: "A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system. (DO)" [http://en.wikipedia.org/wiki/Nervous_system "DO"] subset: RGD_JBrowse_slim synonym: "nervous system diseases" EXACT [] synonym: "nervous system disorder" EXACT [] synonym: "nervous system disorders" EXACT [] synonym: "neurological disorder" EXACT [] synonym: "neurological disorders" EXACT [] synonym: "neurologic disorder" EXACT [] synonym: "neurologic disorders" EXACT [] xref: EFO:0000618 xref: ICD9CM:349.9 xref: MESH:D009422 xref: NCI:C26835 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:8630 name: upper lip cancer xref: ICD10CM:C00.0 xref: ICD10CM:C00.3 xref: ICD9CM:140.0 xref: ICD9CM:140.3 is_a: DOID:8564 ! lip cancer created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8632 name: Kaposi's sarcoma alt_id: MIM:148000 def: "A connective tissue cancer that derives_from lymphatic endothelium, and derives_from spindle cells, results_in_formation_of vascular channels that fill with blood cells, has_material_basis_in Human herpesvirus 8 (HHV8). (DO)" [http://cancerres.aacrjournals.org/content/58/8/1599.full.pdf "DO", http://en.wikipedia.org/wiki/Kaposi%27s_sarcoma "DO"] synonym: "African lymphadenopathic Kaposi's sarcoma" NARROW [] synonym: "anal Kaposi's sarcoma" NARROW [] synonym: "cardiac Kaposi's sarcoma" NARROW [] synonym: "central nervous system Kaposi's sarcoma" NARROW [] synonym: "conjunctival Kaposi's sarcoma" NARROW [] synonym: "corneal Kaposi's sarcoma" NARROW [] synonym: "cutaneous Kaposi's sarcoma" NARROW [] synonym: "EFO:0000558" EXACT [] synonym: "esophageal Kaposi's sarcoma" NARROW [] synonym: "gallbladder Kaposi's sarcoma" NARROW [] synonym: "gastric Kaposi's sarcoma" NARROW [] synonym: "iatrogenic Kaposi's sarcoma" NARROW [] synonym: "intestinal Kaposi's sarcoma" NARROW [] synonym: "Kaposi's sarcoma-associated herpesvirus (KSHV)" RELATED [] synonym: "Kaposi's sarcoma, lung" NARROW [] synonym: "Kaposi's sarcoma of anus" NARROW [] synonym: "Kaposi's sarcoma of central nervous system" NARROW [] synonym: "Kaposi's sarcoma of conjunctiva" NARROW [] synonym: "Kaposi's sarcoma of cornea" NARROW [] synonym: "Kaposi's sarcoma of esophagus" NARROW [] synonym: "Kaposi's sarcoma of gastrointestinal sites" NARROW [] synonym: "Kaposi's sarcoma of heart" NARROW [] synonym: "Kaposi's sarcoma of lung" NARROW [] synonym: "Kaposi's sarcoma of lymph nodes" NARROW [] synonym: "Kaposi's sarcoma of palate" NARROW [] synonym: "Kaposi's sarcoma of penis" NARROW [] synonym: "Kaposi's sarcoma of skin" NARROW [] synonym: "Kaposi's sarcoma of soft tissue" NARROW [] synonym: "Kaposi's sarcoma of soft tissues" NARROW [] synonym: "Kaposi's sarcoma of the CNS" NARROW [] synonym: "Kaposi's sarcoma of the gallbladder" NARROW [] synonym: "Kaposi's sarcoma of the prostate" NARROW [] synonym: "Kaposi's sarcoma, skin" NARROW [] synonym: "Kaposi sarcoma" EXACT [] synonym: "Kaposi sarcoma, susceptibility to" RELATED [] synonym: "Kaposis sarcoma" EXACT [] synonym: "lymphadenopathic Kaposi's sarcoma" NARROW [] synonym: "lymph node Kaposi's sarcoma" NARROW [] synonym: "MCD" NARROW [] synonym: "multiple idiopathic pigmented hemangiosarcoma" EXACT [] synonym: "MULTIPLE IDIOPATHIC PIGMENTED HEMANGIOSARCOMA, SUSCEPTIBILITY TO MULTICENTRIC CASTLEMAN DISEASE, SUSCEPTIBILITY TO" RELATED [] synonym: "palate Kaposi's sarcoma" NARROW [] synonym: "penis Kaposi's sarcoma" NARROW [] synonym: "prostate Kaposi's sarcoma" NARROW [] synonym: "pulmonary Kaposi's sarcoma" NARROW [] synonym: "soft tissue Kaposi's sarcoma" NARROW [] xref: EFO:0000558 xref: EFO:0002613 xref: GARD:6814 xref: ICD10CM:C46 xref: ICD10CM:C46.0 xref: ICD10CM:C46.1 xref: ICD10CM:C46.2 xref: ICD10CM:C46.3 xref: ICD10CM:C46.4 xref: ICD10CM:C46.5 xref: ICD9CM:176 xref: ICD9CM:176.0 xref: ICD9CM:176.1 xref: ICD9CM:176.2 xref: ICD9CM:176.3 xref: ICD9CM:176.4 xref: ICD9CM:176.5 xref: MESH:D012514 xref: MONDO:0005055 xref: NCI:C27500 xref: NCI:C3550 xref: NCI:C3551 xref: NCI:C4578 xref: NCI:C4579 xref: NCI:C5363 xref: NCI:C5523 xref: NCI:C5529 xref: NCI:C5602 xref: NCI:C5706 xref: NCI:C5842 xref: NCI:C6377 xref: NCI:C6749 xref: NCI:C7006 xref: NCI:C9087 is_a: DOID:1115 ! sarcoma is_a: DOID:201 ! connective tissue cancer is_a: DOID:9002834 ! Herpesviridae Infections is_a: DOID:9006948 ! Vascular Tissue Neoplasms [Term] id: DOID:8633 name: chronic intestinal vascular insufficiency synonym: "chronic mesenteric ischemia" EXACT [] synonym: "CMI - chronic mesenteric ischaemia" EXACT [] xref: ICD9CM:557.1 is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8634 name: prostate carcinoma in situ def: "An in situ carcinoma that is located_in the prostate. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25046199 "DO"] synonym: "carcinoma in situ of prostate" EXACT [] synonym: "EFO:1000283" EXACT [] synonym: "grade III PIN" NARROW [] synonym: "Grade III Prostatic Intraepithelial Neoplasia" NARROW [] synonym: "Intraepithelial Prostatic Neoplasias" EXACT [] synonym: "PIN III" NARROW [] synonym: "Prostatic Intraepithelial Neoplasia" EXACT [] synonym: "Prostatic Intraepithelial Neoplasm" EXACT [] synonym: "Prostatic Intraepithelial Neoplasms" EXACT [] xref: EFO:0002621 xref: EFO:1000283 xref: ICD10CM:D07.5 xref: ICD9CM:233.4 xref: MESH:D019048 xref: NCI:C3642 is_a: DOID:10286 ! prostate carcinoma is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:8635 name: uvula cancer synonym: "malignant tumor of uvula" EXACT [SNOMEDCT_2005_07_31:363389001] synonym: "malignant Uvular tumor" EXACT [NCI2004_11_17:C35177] xref: ICD10CM:C05.2 xref: ICD9CM:145.4 xref: NCI:C35177 is_a: DOID:8578 ! soft palate cancer [Term] id: DOID:864 name: phlebitis def: "A vein disease that is characterized by inflammation of a vein. (DO)" [http://en.wikipedia.org/wiki/Phlebitis "DO"] synonym: "periphlebitides" EXACT [] synonym: "periphlebitis" EXACT [] synonym: "phlebitides" EXACT [] xref: EFO:1001395 xref: ICD10CM:I80 xref: MESH:D010689 xref: NCI:C38003 is_a: DOID:341 ! peripheral vascular disease is_a: DOID:865 ! vasculitis is_a: DOID:866 ! vein disease [Term] id: DOID:8642 name: Hodgkin's paragranuloma synonym: "Hodgkin paragranuloma" EXACT [] xref: RDO:9004176 is_a: DOID:8567 ! Hodgkin's lymphoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8643 name: duodenitis def: "Inflammation of the DUODENUM section of the small intestine (INTESTINE, SMALL). Erosive duodenitis may cause bleeding in the UPPER GI TRACT and PEPTIC ULCER." [MESH:D004382] synonym: "Erosive Duodenitis" EXACT [] synonym: "hemorrhagic duodenitis" EXACT [] xref: ICD10CM:K29.8 xref: ICD9CM:535.6 xref: MESH:D004382 xref: NCI:C94409 is_a: DOID:4072 ! duodenum disease is_a: DOID:9007156 ! Enteritis [Term] id: DOID:8644 name: gastroduodenitis xref: ICD9CM:535.4 is_a: DOID:750 ! peptic ulcer disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:8645 name: subacute delirium def: "A disorder characterized by CONFUSION; inattentiveness; disorientation; ILLUSIONS; HALLUCINATIONS; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" [MESH:D003693] synonym: "delirium" EXACT [] synonym: "Delirium of Mixed Origin" EXACT [] synonym: "Mixed Origin Delirium" EXACT [] synonym: "mixed origin deliriums" EXACT [] synonym: "subacute deliriums" EXACT [] xref: EFO:0009267 xref: ICD9CM:293.1 xref: MESH:D003693 is_a: DOID:1561 ! cognitive disorder is_a: DOID:8646 ! substance-induced psychosis is_a: DOID:9000348 ! Confusion [Term] id: DOID:8646 name: substance-induced psychosis def: "Psychotic organic mental disorders resulting from the toxic effect of drugs and chemicals or other harmful substance." [MESH:D011605] synonym: "Drug Psychoses" EXACT [] synonym: "substance-induced psychoses" EXACT [] synonym: "Toxic Psychoses" EXACT [] xref: ICD9CM:293.89 xref: MESH:D011605 xref: RDO:0006434 is_a: DOID:2468 ! psychotic disorder is_a: DOID:303 ! substance-related disorder is_a: DOID:9000046 ! Poisoning [Term] id: DOID:8649 name: tongue cancer def: "Tumors or cancer of the TONGUE." [MESH:D014062] synonym: "cancer of tongue" EXACT [] synonym: "malignant neoplasm of tongue" EXACT [] synonym: "malignant tongue neoplasm" EXACT [] synonym: "malignant tumor of tongue" EXACT [] synonym: "tongue cancers" EXACT [] xref: EFO:0003871 xref: GARD:7779 xref: ICD10CM:C01 xref: ICD10CM:C02.0 xref: ICD10CM:C02.1 xref: ICD10CM:C02.2 xref: ICD10CM:C02.4 xref: ICD10CM:C02.9 xref: ICD9CM:141 xref: ICD9CM:141.0 xref: ICD9CM:141.1 xref: ICD9CM:141.2 xref: ICD9CM:141.3 xref: ICD9CM:141.5 xref: ICD9CM:141.6 xref: NCI:C3524 xref: NCI:C9345 is_a: DOID:8618 ! oral cavity cancer is_a: DOID:9005873 ! Tongue Neoplasms [Term] id: DOID:865 name: vasculitis def: "A vascular disease that is characterized by inflammation of the blood vessels. (DO)" [http://en.wikipedia.org/wiki/Vasculitis "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/vas/ "DO", http://www.nlm.nih.gov/medlineplus/vasculitis.html "DO"] synonym: "Angiitides" EXACT [] synonym: "Angiitis" EXACT [] synonym: "Vasculitides" EXACT [] xref: EFO:0006803 xref: GARD:9565 xref: MESH:D014657 xref: NCI:C26912 is_a: DOID:178 ! vascular disease [Term] id: DOID:8651 name: Hodgkin's granuloma synonym: "Hodgkin granuloma" EXACT [] synonym: "Hodgkins granuloma" EXACT [] is_a: DOID:8567 ! Hodgkin's lymphoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8654 name: Hodgkin's lymphoma, mixed cellularity synonym: "EFO:1002031" EXACT [] synonym: "Hodgkin's disease, mixed cellularity" RELATED [] synonym: "Hodgkin lymphoma, mixed cellularity" EXACT [SNOMEDCT_2005_07_31:41529000] synonym: "MCHL" EXACT [NCI2004_11_17:C3517] xref: EFO:1002031 xref: ICD10CM:C81.2 xref: ICD9CM:201.6 xref: NCI:C3517 xref: RDO:9004180 is_a: DOID:8567 ! Hodgkin's lymphoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:8659 name: chickenpox def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3, which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters. (DO)" [http://www.nlm.nih.gov/medlineplus/chickenpox.html "DO"] synonym: "chicken pox" EXACT [] synonym: "varicella" EXACT [] xref: EFO:0007204 xref: ICD10CM:B01.9 xref: ICD9CM:052 xref: MESH:D002644 xref: NCI:C97132 is_a: DOID:9004668 ! Varicella Zoster infection [Term] id: DOID:866 name: vein disease def: "A vascular disease that is located_in a vein. (DO)" [http://en.wikipedia.org/wiki/Vein#Venous_diseases "DO"] xref: ICD10CM:I82 xref: ICD9CM:453 is_a: DOID:178 ! vascular disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8660 name: postcricoid region cancer synonym: "malignant postcricoid tumor" EXACT [] synonym: "malignant tumor of pharyngoesophageal junction" EXACT [] xref: ICD10CM:C13.0 xref: ICD9CM:148.0 xref: NCI:C9323 is_a: DOID:8533 ! hypopharynx cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:8661 name: lip carcinoma in situ def: "An oral cavity carcinoma in situ that is located_in the lip. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1465369/ "DO"] xref: ICD10CM:D00.0 xref: ICD9CM:230.0 is_a: DOID:0050610 ! oral cavity carcinoma in situ is_a: DOID:9007400 ! Lip Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8663 name: aryepiglottic fold cancer synonym: "malignant neoplasm of hypopharyngeal aspect of aryepiglottic fold" EXACT [] synonym: "malignant tumor aryepiglottic fold - hypopharyngeal aspect" EXACT [] xref: ICD10CM:C13.1 xref: ICD9CM:148.2 is_a: DOID:8533 ! hypopharynx cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:867 name: maxillary sinus cholesteatoma def: "A cholesteatoma located_in paranasal sinus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1503726 "DO"] xref: EFO:1000731 xref: NCI:C35868 xref: RDO:9003151 is_a: DOID:1352 ! paranasal sinus disease is_a: DOID:869 ! cholesteatoma created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:8670 name: eating disorder def: "A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. (DO)" [http://en.wikipedia.org/wiki/Eating_disorder "DO"] synonym: "Appetite Disorder" EXACT [] synonym: "appetite disorders" EXACT [] synonym: "Eating Disorders" EXACT [] synonym: "Feeding and Eating Disorders" EXACT [] synonym: "Feeding Disorder" EXACT [] synonym: "feeding disorders" EXACT [] xref: EFO:0005203 xref: ICD10CM:F50 xref: ICD9CM:307.50 xref: MESH:D001068 xref: NCI:C89332 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:150 ! disease of mental health [Term] id: DOID:8672 name: viral exanthem xref: EFO:1000776 xref: ICD9CM:057.8 is_a: DOID:0050486 ! exanthem is_a: DOID:934 ! viral infectious disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:8677 name: perinatal necrotizing enterocolitis def: "ENTEROCOLITIS with extensive ulceration (ULCER) and NECROSIS. It is observed primarily in LOW BIRTH WEIGHT INFANT." [MESH:D020345] synonym: "NEC" EXACT [] synonym: "necrotizing enterocolitis" EXACT [] synonym: "necrotizing enterocolitis in fetus or newborn" EXACT [] synonym: "perinatal necrotising enterocolitis" EXACT [] synonym: "pseudomembranous enterocolitis in newborn" EXACT [] xref: EFO:0003928 xref: ICD10CM:K55.3 xref: ICD10CM:K55.30 xref: MESH:D020345 is_a: DOID:9002805 ! Enterocolitis [Term] id: DOID:8680 name: alcoholic gastritis synonym: "Alcoholic gastritis, with hemorrhage" EXACT [] synonym: "Alcoholic gastritis, without mention of hemorrhage" EXACT [] xref: ICD10CM:K29.2 xref: ICD9CM:535.3 xref: NCI:C26977 is_a: DOID:4029 ! gastritis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:8681 name: paraneoplastic polyneuropathy alt_id: RDO:9002725 def: "A diffuse or multifocal peripheral neuropathy related to the remote effects of a neoplasm, most often carcinoma or lymphoma. Pathologically, there are inflammatory changes in peripheral nerves. The most common clinical presentation is a symmetric distal mixed sensorimotor polyneuropathy. (Adams et al., Principles of Neurology, 6th ed, p1334)" [MESH:D020364] synonym: "Paraneoplastic Neuropathies" EXACT [] synonym: "Paraneoplastic Neuropathy" EXACT [] synonym: "Paraneoplastic Peripheral Neuropathies" EXACT [] synonym: "Paraneoplastic Peripheral Neuropathy" EXACT [] synonym: "Paraneoplastic Polyneuropathies" EXACT [] xref: EFO:1001085 xref: ICD9CM:357.3 xref: MESH:D020364 xref: NCI:C3981 xref: RDO:0007402 is_a: DOID:1389 ! polyneuropathy is_a: DOID:2537 ! inflammatory and toxic neuropathy is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes [Term] id: DOID:8683 name: myeloid sarcoma def: "An extramedullary tumor of immature MYELOID CELLS or MYELOBLASTS. Granulocytic sarcoma usually occurs with or follows the onset of ACUTE MYELOID LEUKEMIA." [MESH:D023981] synonym: "Chloroma" EXACT [] synonym: "chloromas" EXACT [] synonym: "EFO:1001052" EXACT [] synonym: "Extramedullary Myeloid Cell Tumor" EXACT [] synonym: "extramedullary myeloid tumor" EXACT [] synonym: "Granulocytic Sarcoma" EXACT [] synonym: "Granulocytic Sarcomas" EXACT [] synonym: "myeloid sarcomas" EXACT [] xref: EFO:1001052 xref: GARD:12763 xref: ICD10CM:C92.3 xref: ICDO:9930/3 xref: MESH:D023981 xref: NCI:C3520 xref: NCI:C35815 is_a: DOID:1115 ! sarcoma is_a: DOID:2531 ! hematologic cancer is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:8687 name: skin carcinoma in situ def: "A carcinoma in situ that is characterized by the spread of cancer in skin and the lack of invasion of surrounding tissues. (DO)" [http://en.wikipedia.org/wiki/Carcinoma_in_situ "DO"] synonym: "carcinoma in situ of skin" EXACT [] synonym: "cutaneous carcinoma in situ" EXACT [] xref: ICD10CM:D04 xref: ICD10CM:D04.0 xref: ICD10CM:D04.2 xref: ICD10CM:D04.3 xref: ICD10CM:D04.4 xref: ICD10CM:D04.6 xref: ICD10CM:D04.7 xref: ICD9CM:232 xref: ICD9CM:232.0 xref: ICD9CM:232.2 xref: ICD9CM:232.3 xref: ICD9CM:232.4 xref: ICD9CM:232.5 xref: ICD9CM:232.6 xref: ICD9CM:232.7 xref: MONDO:0004641 xref: NCI:C3640 is_a: DOID:3451 ! skin carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8688 name: tonsillar pillar cancer synonym: "malignant neoplasm of tonsillar pillar" EXACT [SNOMEDCT_2005_07_31:94103007] synonym: "malignant neoplasm of tonsillar pillars, posterior" EXACT [MTHICD9_2006:146.2] synonym: "malignant tumor of tonsillar pillar" EXACT [SNOMEDCT_2005_07_31:187675005] synonym: "malignant tumour of tonsillar pillar" EXACT [] xref: ICD10CM:C09.1 xref: ICD9CM:146.2 is_a: DOID:8557 ! oropharynx cancer [Term] id: DOID:8689 name: anorexia nervosa alt_id: MIM:606788 def: "An eating disorder characterized by refusal to maintain a healthy body weight, and an obsessive fear of gaining weight due to a distorted self image. (DO)" [http://en.wikipedia.org/wiki/Anorexia_nervosa "DO"] synonym: "AN" EXACT [] synonym: "ANON" EXACT [] synonym: "ANON1" EXACT [] synonym: "Anorexia Nervosas" EXACT [] synonym: "ANOREXIA NERVOSA, SUSCEPTIBILITY TO" RELATED [] synonym: "ANOREXIA NERVOSA, SUSCEPTIBILITY TO, 1" RELATED [] xref: EFO:0004215 xref: ICD10CM:F50.0 xref: ICD9CM:307.1 xref: MESH:D000856 xref: MONDO:0005351 xref: NCI:C34387 is_a: DOID:8670 ! eating disorder [Term] id: DOID:869 name: cholesteatoma def: "A keratosis that is characterized by keratinizing squamous epithelium located in middle ear and/or mastoid, subepithelial connective tissue and by the progressive accumulation of keratin debris with or without surrounding inflammatory reaction. (DO)" [https://en.wikipedia.org/wiki/Cholesteatoma "DO", https://www.ncbi.nlm.nih.gov/pubmed/26223725 "DO"] synonym: "cholesteatomas" EXACT [] xref: EFO:1000675 xref: GARD:10422 xref: ICD10CM:H71.9 xref: ICD9CM:385.30 xref: MESH:D002781 xref: NCI:C2944 is_a: DOID:161 ! keratosis [Term] id: DOID:8691 name: mycosis fungoides alt_id: MIM:254400 def: "A chronic, malignant T-cell lymphoma of the skin. In the late stages, the LYMPH NODES and viscera are affected." [MESH:D009182] synonym: "EFO:1001051" EXACT [] synonym: "MF" EXACT [] synonym: "mycosis fungoides lymphoma" EXACT [] xref: EFO:1001051 xref: GARD:3863 xref: ICD10CM:C84.0 xref: ICD9CM:202.1 xref: ICDO:9700/3 xref: MESH:D009182 xref: NCI:C3246 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma [Term] id: DOID:8692 name: myeloid leukemia alt_id: OMIA:001573 def: "A leukemia that is located_in myeloid tissue. (DO)" [http://en.wikipedia.org/wiki/Myeloid_leukemia "DO"] synonym: "chronic myeloid leukemia" NARROW [] synonym: "Granulocytic Leukemia" EXACT [] synonym: "granulocytic leukemias" EXACT [] synonym: "leukaemia myelogenous" EXACT [] synonym: "Myelocytic Leukemia" EXACT [] synonym: "Myelocytic Leukemias" EXACT [] synonym: "Myelogenous Leukemia" EXACT [] synonym: "myelogenous leukemias" EXACT [] synonym: "myeloid granulocytic leukaemia" EXACT [] synonym: "myeloid granulocytic leukemia" EXACT [] synonym: "myeloid leukaemia" EXACT [] synonym: "myeloid leukemias" EXACT [] synonym: "non-lymphocytic leukemia" EXACT [] xref: GARD:8226 xref: ICD10CM:C92 xref: ICD9CM:205 xref: ICDO:9860/3 xref: MESH:D007951 xref: NCI:C21889 xref: NCI:C3172 is_a: DOID:1240 ! leukemia [Term] id: DOID:8696 name: subacute monocytic leukemia xref: ICD9CM:206.2 xref: RDO:9002326 is_a: DOID:8527 ! monocytic leukemia created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:870 name: neuropathy def: "A nervous system disease that is located_in nerves or nerve cells. (DO)" [http://en.wikipedia.org/wiki/Neuropathy_%28disambiguation%29 "DO"] synonym: "AUTOSOMAL RECESSIVE AXONAL HEREDITARY MOTOR AND SENSORY NEUROPATHY" NARROW [] synonym: "peripheral neuropathy" EXACT [] xref: EFO:0003100 xref: EFO:0004149 xref: ICD10CM:G62.9 xref: NCI:C4731 is_a: DOID:574 ! peripheral nervous system disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:8702 name: cheek mucosa cancer synonym: "malignant neoplasm of buccal mucosa" EXACT [SNOMEDCT_2005_07_31:93735006] synonym: "malignant neoplasm of cheek, inner aspect" EXACT [MTHICD9_2006:145.0] synonym: "malignant neoplasm of the Buccal Mucosa" EXACT [NCI2004_11_17:C9320] synonym: "malignant tumor of buccal mucosa" EXACT [SNOMEDCT_2005_07_31:363386008] xref: ICD10CM:C06.0 xref: ICD9CM:145.0 xref: NCI:C9320 is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:8704 name: genital herpes def: "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands. (DO)" [http://www.cdc.gov/std/herpes/stdfact-herpes.htm "DO"] synonym: "Genital Herpes Simplex" EXACT [] synonym: "herpes genitalia" EXACT [] synonym: "Herpes Genitalis" EXACT [] synonym: "Herpes Simplex Virus Genital Infection" EXACT [] synonym: "venereal herpes" EXACT [] synonym: "virus-genital herpes" EXACT [] xref: EFO:0007282 xref: ICD9CM:054.1 xref: MESH:D006558 xref: NCI:C14364 is_a: DOID:8566 ! herpes simplex is_a: DOID:9003767 ! Viral Sexually Transmitted Diseases [Term] id: DOID:8712 name: neurofibromatosis def: "A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)" [MESH:D017253] synonym: "Multiple Neurofibroma" EXACT [] synonym: "multiple neurofibromas" EXACT [] synonym: "neurofibromatoses" EXACT [] synonym: "neurofibromatosis 3" NARROW [] synonym: "neurofibromatosis syndrome" EXACT [] synonym: "neurofibromatosis syndromes" EXACT [] synonym: "neurofibromatosis type 3" NARROW [] synonym: "neurofibromatosis type 4" NARROW [] synonym: "NEUROFIBROMATOSIS TYPE 6" NARROW [] synonym: "neurofibromatosis type IV" NARROW [] synonym: "type IV neurofibromatosis of Riccardi" NARROW [] xref: EFO:0003092 xref: EFO:0008514 xref: GARD:10420 xref: ICD10CM:Q85.0 xref: ICD9CM:237.7 xref: MESH:D017253 xref: NCI:C6727 xref: ORDO:634518 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080690 ! RASopathy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes is_a: DOID:962 ! neurofibroma [Term] id: DOID:8717 name: decubitus ulcer def: "A chronic ulcer of skin where the ulcer is an ulceration of tissue deprived of adequate blood supply by prolonged pressure. (DO)" [https://pubmed.ncbi.nlm.nih.gov/37590857/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK553107/ "DO"] synonym: "Bed Sore" EXACT [] synonym: "Bedsore" EXACT [] synonym: "Bedsores" EXACT [] synonym: "bed sores" EXACT [] synonym: "decubitus (pressure) ulcer" EXACT [] synonym: "decubitus ulcer any site" EXACT [] synonym: "Decubitus Ulcers" EXACT [] synonym: "Pressure Sore" EXACT [] synonym: "Pressure Sores" EXACT [] synonym: "Pressure Ulcer" EXACT [] synonym: "pressure ulcers" EXACT [] xref: EFO:0007067 xref: ICD10CM:L89 xref: ICD9CM:707.0 xref: MESH:D003668 xref: NCI:C50706 is_a: DOID:8549 ! chronic ulcer of skin [Term] id: DOID:8719 name: in situ carcinoma def: "A carcinoma that is an early development defined by the absence of invasion of surrounding tissues. (DO)" [http://en.wikipedia.org/wiki/Carcinoma_in_situ "DO"] synonym: "Intraepithelial Carcinoma" EXACT [] synonym: "Intraepithelial Neoplasm" EXACT [] synonym: "Intraepithelial Neoplasms" EXACT [] synonym: "Preinvasive Carcinoma" EXACT [] xref: ICD10CM:D09.9 xref: ICD9CM:230-234.99 xref: MESH:D002278 xref: NCI:C2917 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:305 ! carcinoma [Term] id: DOID:8725 name: vascular dementia def: "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain. (DO)" [http://www.mayoclinic.com/health/vascular-dementia/DS00934 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000739.htm "DO"] synonym: "acute onset vascular dementia" EXACT [] synonym: "Arteriosclerotic Dementia" EXACT [] synonym: "arteriosclerotic dementias" EXACT [] synonym: "Binswanger's Disease" EXACT [] synonym: "Binswanger's Encephalopathy" EXACT [] synonym: "Binswanger Disease" EXACT [] synonym: "Binswanger Encephalopathy" EXACT [] synonym: "Binswangers Disease" EXACT [] synonym: "Chronic Progressive Subcortical Encephalopathy" EXACT [] synonym: "Encephalopathy, Binswangers" EXACT [] synonym: "multifocal dementia" EXACT [] synonym: "Multi Infarct Dementia" EXACT [] synonym: "Subcortical Arteriosclerotic Encephalopathies" EXACT [] synonym: "Subcortical Arteriosclerotic Encephalopathy" EXACT [] synonym: "Subcortical Leukoencephalopathies" EXACT [] synonym: "Subcortical Leukoencephalopathy" EXACT [] synonym: "Subcortical Vascular Dementia" EXACT [] synonym: "subcortical vascular dementias" EXACT [] synonym: "vascular dementias" EXACT [] xref: EFO:0004718 xref: ICD10CM:F01 xref: ICD9CM:290.4 xref: MESH:D015140 xref: NCI:C34522 xref: NCI:C34525 is_a: DOID:1307 ! dementia is_a: DOID:13097 ! intracranial arteriosclerosis is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:8729 name: milker's nodule def: "A viral infectious disease that results_in infection of cattle and humans, located_in skin, has_material_basis_in Pseudocowpox virus, which is transmitted_by contact with the infected cow teats, or transmitted_by fomites. The infection results_in_formation_of lesions on the fingers, hands, and forearms and has_symptom fever, has_symptom lymphangitis, and has_symptom lymphadenopathy. (DO)" [http://www.cfsph.iastate.edu/FastFacts/pdfs/pseudocowpox_F.pdf "DO"] synonym: "Milker's Node" EXACT [] synonym: "Milker's Nodes" EXACT [] synonym: "Milker Nodes" EXACT [] synonym: "milker nodule" EXACT [] synonym: "milkers' node" EXACT [] synonym: "Milkers Nodes" EXACT [] synonym: "paravaccinia" EXACT [] synonym: "Poxviridae Infection" EXACT [] synonym: "Poxviridae Infections" EXACT [] synonym: "Poxvirus Infection" EXACT [] synonym: "Poxvirus Infections" EXACT [] synonym: "pseudocowpox" RELATED [] xref: EFO:0007370 xref: ICD10CM:B08.04 xref: ICD9CM:051.9 xref: MESH:D011213 is_a: DOID:9000251 ! DNA Virus Infections [Term] id: DOID:873 name: anaerobic pneumonia def: "An aspiration pneumonia caused by anaerobic bacteria like Bacteroides fragilis, Peptostreptococcus, anaerobic streptococci, Fusobacterium species (Fusobacterium nucleatum and Fusobacterium necrophoram). Lung abscess and empyema are diagnosed in this disease. (DO)" [http://books.google.com/books?id=fYgVmmMKS50C&pg=RA1-PA412&lpg "DO"] synonym: "pneumonia due to anaerobes" EXACT [] xref: ICD9CM:482.81 xref: RDO:9003298 is_a: DOID:0050152 ! aspiration pneumonia created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:8731 name: carotid body cancer def: "A vascular cancer that is characterized by an encapsulated, firm round mass at the bifurcation of the common carotid artery. (DO)" [http://www.wrongdiagnosis.com/medical/carotid_body_tumor.htm "DO"] synonym: "cancer of carotid body" RELATED [] synonym: "malignant Carotid body Paraganglioma" EXACT [NCI2004_11_17:C3574] synonym: "malignant carotid body tumor" EXACT [SNOMEDCT_2005_07_31:16822006] xref: ICD10CM:C75.4 xref: ICD9CM:194.5 xref: NCI:C3574 is_a: DOID:175 ! vascular cancer created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:8736 name: smallpox def: "A viral infectious disease that results in infection located in skin, has_material_basis_in Variola virus, which is transmitted by droplets from oral, nasal or pharyngeal mucosa, transmitted by contact with the body fluids, or transmitted by fomites. The infection results in formation of lesions, first on the face, hands and forearms and later on the trunk. (DO)" [http://www.who.int/csr/disease/smallpox/en/ "DO"] synonym: "ordinary smallpox" EXACT [] synonym: "variola" EXACT [] synonym: "variolas" EXACT [] xref: GARD:7444 xref: ICD10CM:B03 xref: ICD9CM:050 xref: MESH:D012899 xref: NCI:C35027 is_a: DOID:8729 ! milker's nodule is_a: DOID:9001063 ! Viral Skin Diseases [Term] id: DOID:8738 name: leukoplakia of penis synonym: "kraurosis of penis" EXACT [] synonym: "penile leukoplakia" EXACT [] xref: EFO:1001015 xref: ICD10CM:N48.0 xref: ICD9CM:607.0 xref: NCI:C3151 is_a: DOID:1529 ! penile disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:874 name: bacterial pneumonia def: "A pneumonia involving inflammation of the lungs caused by bacteria. (DO)" [http://en.wikipedia.org/wiki/Bacterial_pneumonia "DO"] synonym: "Bacterial Pneumonias" EXACT [] synonym: "gram-negative pneumonia" EXACT [] synonym: "pneumonia due to other gram-negative bacteria" EXACT [] xref: EFO:1001272 xref: ICD10CM:J15.9 xref: ICD9CM:482.9 xref: MESH:D018410 xref: NCI:C26704 is_a: DOID:552 ! pneumonia is_a: DOID:9008559 ! Bacterial Lung Diseases [Term] id: DOID:8741 name: seborrheic dermatitis def: "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm "DO"] synonym: "Dermatitis Seborrheica" EXACT [] synonym: "Seborrhea" EXACT [] synonym: "Seborrheic Dermatitides" EXACT [] synonym: "Seborrhoeic dermatitis" EXACT [] synonym: "Seborrhoeic eczema" EXACT [] synonym: "skin seborrheic" EXACT [] xref: EFO:1000764 xref: ICD10CM:L21 xref: ICD9CM:690.1 xref: MESH:D012628 xref: NCI:C111888 is_a: DOID:2723 ! dermatitis is_a: DOID:9004383 ! Eczematous Skin Diseases is_a: DOID:9008246 ! Papulosquamous Skin Diseases is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:8743 name: erythema infectiosum def: "Contagious infection with human B19 Parvovirus most commonly seen in school age children and characterized by fever, headache, and rashes of the face, trunk, and extremities. It is often confused with rubella." [MESH:D016731] synonym: "Fifth Disease" EXACT [] xref: EFO:1000693 xref: ICD10CM:B08.3 xref: ICD9CM:057.0 xref: MESH:D016731 xref: NCI:C84695 is_a: DOID:8672 ! viral exanthem is_a: DOID:9000331 ! Parvoviridae Infections is_a: DOID:9006976 ! Erythema [Term] id: DOID:8757 name: gastric mucosal hypertrophy alt_id: MIM:137280 alt_id: RDO:0005652 def: "GASTRITIS with HYPERTROPHY of the GASTRIC MUCOSA. It is characterized by giant gastric folds, diminished acid secretion, excessive MUCUS secretion, and HYPOPROTEINEMIA. Symptoms include VOMITING; DIARRHEA; and WEIGHT LOSS." [MESH:D005758] synonym: "familial giant hypertrophic gastritis" EXACT [] synonym: "Gastritis, Hypertrophic" EXACT [] synonym: "Giant Hypertrophic Gastritis" EXACT [] synonym: "giant rugal hypertrophy of stomach" EXACT [SNOMEDCT_2005_07_31:235665008] synonym: "hypertrophic gastropathy" EXACT [SNOMEDCT_2005_07_31:413219009] synonym: "Menetrier's Disease" EXACT [] synonym: "Menetrier Disease" EXACT [] synonym: "Menetriers disease" EXACT [] xref: EFO:1000946 xref: ICD10CM:K29.6 xref: ICD9CM:535.2 xref: MESH:D005758 xref: NCI:C67277 is_a: DOID:4029 ! gastritis [Term] id: DOID:876 name: pyomyositis def: "An intramuscular suppuration of the large skeletal muscle groups. It is associated with INFECTION such as STAPHYLOCOCCUS AUREUS and PYODERMA. It was known as a tropical disease but is increasing among the immunocompromised (IMMUNOCOMPROMISED HOST). Symptoms include muscle pain, FEVER, and leucocytosis. It has been diagnosed by MRI SCANS." [MESH:D052880] synonym: "Tropical Myositis" EXACT [] synonym: "tropical pyomyositis" EXACT [] xref: EFO:1001409 xref: GARD:4614 xref: ICD10CM:M60.0 xref: ICD9CM:040.81 xref: MESH:D052880 xref: NCI:C128382 is_a: DOID:633 ! myositis is_a: DOID:9005889 ! Suppuration [Term] id: DOID:8761 name: acute megakaryocytic leukemia def: "An acute myeloid leukemia that derives from blood-forming tissue in which megakaryocytes proliferate in the bone marrow and circulate in the blood in large numbers. (DO)" [https://en.wikipedia.org/wiki/Acute_megakaryoblastic_leukemia "DO", https://pubmed.ncbi.nlm.nih.gov/26228843/ "DO", https://www.orpha.net/data/patho/GB/uk-AMLM7.pdf "DO"] synonym: "acute megakaryoblastic leukaemia, FAB M7" EXACT [] synonym: "acute megakaryoblastic leukemia" EXACT [] synonym: "acute megakaryoblastic leukemia, FAB M7" EXACT [] synonym: "acute megakaryoblastic leukemias" EXACT [] synonym: "Acute Megakaryocytic Leukemias" EXACT [] synonym: "acute myeloid leukemia, M7" EXACT [] synonym: "adult acute megakaryoblastic leukemia" NARROW [] synonym: "EFO:0003025" EXACT [] synonym: "megakaryocytic leukemia" EXACT [] synonym: "megakaryocytic leukemias" EXACT [] synonym: "megakaryocytic myelosis" EXACT [] synonym: "thrombocytic leukaemia" EXACT [] xref: EFO:0003025 xref: EFO:1001932 xref: GARD:524 xref: ICD10CM:C94.2 xref: ICD9CM:207.2 xref: ICDO:9910/3 xref: MESH:D007947 xref: NCI:C3170 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:8771 name: contagious pustular dermatitis def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Orf virus, which is transmitted_by contact with infected or recently vaccinated animals, or transmitted_by fomites carrying the virus. The infection has_symptom lesions on the finger, hand, arm, face, and penis. (DO)" [http://en.wikipedia.org/wiki/Orf_%28disease%29 "DO", http://www.cdc.gov/mmwr/preview/mmwrhtml/mm5503a1.htm "DO"] synonym: "contagious ecthyma" EXACT [] synonym: "contagious pustular dermatitides" EXACT [] synonym: "ecthyma contagiosum" EXACT [] synonym: "Orf" EXACT [] synonym: "Orf virus infection" EXACT [] synonym: "scabby mouth" EXACT [] synonym: "sheep pox" EXACT [] synonym: "thistle disease" EXACT [] xref: EFO:0007222 xref: ICD10CM:B08.02 xref: ICD9CM:051.2 xref: MESH:D004474 is_a: DOID:37 ! skin disease is_a: DOID:8729 ! milker's nodule is_a: DOID:9006097 ! Sheep Diseases [Term] id: DOID:8778 name: Crohn's disease alt_id: MIM:266600 def: "An intestinal disease that involves inflammation located_in intestine. (DO)" [http://en.wikipedia.org/wiki/Chron%27s_disease "DO", https://www.genome.gov/Genetic-Disorders/Crohns-Disease "DO"] synonym: "Crohn's disease of colon" EXACT [] synonym: "Crohn's disease of large bowel" EXACT [] synonym: "Crohn's enteritis" EXACT [] synonym: "Crohn disease" EXACT [] synonym: "CROHN DISEASE, ASSOCIATION WITH" RELATED [] synonym: "Crohns disease" EXACT [] synonym: "granulomatous colitis" EXACT [] synonym: "granulomatous enteritis" EXACT [] synonym: "inflammatory bowel disease 1" EXACT [] synonym: "INFLAMMATORY BOWEL DISEASE 1 (CROHN DISEASE), SUSCEPTIBILITY TO" RELATED [] synonym: "oral Crohn's disease" NARROW [] synonym: "regional enteritis" EXACT [] synonym: "regional ileitides" EXACT [] synonym: "regional ileitis" EXACT [] synonym: "terminal ileitis" EXACT [] xref: EFO:0000384 xref: EFO:0005625 xref: GARD:10232 xref: MESH:D003424 xref: NCI:C2965 is_a: DOID:0050589 ! inflammatory bowel disease [Term] id: DOID:8781 name: rubella def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Rubella virus, which is transmitted_by droplet spread of oronasal secretions from the infected person through coughing and sneezing, and transmitted_by congenital method. The infection has_symptom rash on the face which spreads to the trunk and limbs, has_symptom fever, has_symptom lymphadenopathy, has_symptom joint pains, has_symptom headache, and has_symptom conjunctivitis. (DO)" [http://en.wikipedia.org/wiki/Rubella "DO"] synonym: "German Measles" EXACT [] synonym: "Rubellas" EXACT [] synonym: "Three Day Measle" EXACT [] synonym: "Three Day Measles" EXACT [] xref: EFO:1002026 xref: GARD:4742 xref: ICD10CM:B06.9 xref: ICD9CM:056 xref: MESH:D012409 xref: NCI:C85051 is_a: DOID:2365 ! West Nile encephalitis is_a: DOID:9003691 ! Rubivirus Infections [Term] id: DOID:8787 name: disseminated chorioretinitis xref: ICD10CM:H30.1 xref: ICD9CM:363.1 xref: RDO:9003513 is_a: DOID:8886 ! chorioretinitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:8791 name: breast carcinoma in situ def: "An in situ carcinoma that is located_in the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/26431342 "DO"] synonym: "carcinoma in situ of breast" EXACT [] synonym: "Ductal Breast Carcinoma In Situ and Lobular Carcinoma In Situ" NARROW [] synonym: "non-infiltrating carcinoma of breast" EXACT [] xref: EFO:1000221 xref: ICD10CM:D05 xref: ICD9CM:233.0 xref: MESH:D000071960 is_a: DOID:3459 ! breast carcinoma is_a: DOID:8719 ! in situ carcinoma [Term] id: DOID:8792 name: eye carcinoma in situ def: "A carcinoma in situ that is characterized by the spread of cancer in the eye and the lack of invasion of surrounding tissues. (DO)" [http://en.wikipedia.org/wiki/Carcinoma_in_situ "DO"] synonym: "carcinoma in situ of eye" EXACT [] xref: ICD10CM:D09.2 xref: ICD9CM:234.0 is_a: DOID:295 ! eye carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8800 name: lung carcinoma in situ def: "An in situ carcinoma that is located_in the lung. (DO)" [https://www.cancer.org/treatment/understanding-your-diagnosis/tests/understanding-your-pathology-report/lung-pathology/lung-cancer-in-situ-pathology.html "DO"] xref: ICD10CM:D02.2 xref: ICD9CM:231.2 is_a: DOID:3905 ! lung carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:8802 name: trachea carcinoma in situ def: "An in situ carcinoma that is located_in the trachea. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4076722/ "DO"] synonym: "carcinoma in situ of trachea" EXACT [SNOMEDCT_2005_07_31:92772005] synonym: "Tracheal carcinoma In situ" EXACT [NCI2004_11_17:C3639] xref: ICD10CM:D02.1 xref: ICD9CM:231.1 xref: NCI:C3639 xref: RDO:9003583 is_a: DOID:4876 ! trachea carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:8805 name: intermediate coronary syndrome def: "Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION." [MESH:D000789] synonym: "angina at rest" EXACT [] synonym: "anginal chest pain at rest" EXACT [] synonym: "impending infarction" EXACT [] synonym: "Myocardial Preinfarction Syndrome" EXACT [] synonym: "myocardial preinfarction syndromes" EXACT [] synonym: "Preinfarction Angina" EXACT [] synonym: "Preinfarction Anginas" EXACT [] synonym: "unstable angina" EXACT [] synonym: "Unstable Angina Pectori" EXACT [] synonym: "Unstable Angina Pectoris" EXACT [] synonym: "unstable anginas" EXACT [] synonym: "worsening angina" EXACT [] xref: EFO:0020925 xref: EFO:1000985 xref: ICD10CM:I20.0 xref: ICD9CM:411.1 xref: MESH:D000789 xref: MONDO:0006805 xref: NCI:C66911 is_a: DOID:3393 ! coronary artery disease is_a: DOID:9000483 ! Angina Pectoris [Term] id: DOID:882 name: heterophyiasis def: "A parasitic helminthiasis infectious disease that involves intestinal infection by the parasite of the genus Heterophyes. The symptoms are diarrhea and colicky abdominal pain. Migration of the eggs to the heart, results in fatal myocardial and valvular damage. Brain can also be infected. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Heterophyiasis.htm "DO"] synonym: "heterophyes infectious disease" EXACT [] xref: ICD10CM:B66.8 xref: ICD9CM:121.6 xref: NCI:C128389 is_a: DOID:114 ! heart disease is_a: DOID:888 ! fasciolopsiasis is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-10-05T00:00:00Z [Term] id: DOID:8826 name: colon carcinoma in situ def: "An intestine carcinoma in situ that is located_in the colon. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/622667 "DO"] synonym: "carcinoma in situ of colon" EXACT [] synonym: "stage 0 colonic carcinoma" EXACT [] xref: ICD10CM:D01.0 xref: ICD9CM:230.3 is_a: DOID:1520 ! colon carcinoma is_a: DOID:9024 ! intestine carcinoma in situ created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:883 name: parasitic helminthiasis infectious disease def: "A parasitic infectious disease that occurs when part of the body is infested with parasitic worms such as cestodes, nematodes and trematodes. (DO)" [http://en.wikipedia.org/wiki/Helminth "DO", http://en.wikipedia.org/wiki/Helminthiasis "DO"] synonym: "helminthiases" EXACT [] synonym: "helminthiasis" EXACT [] synonym: "helminth infection" EXACT [] synonym: "helminthosis" EXACT [] synonym: "nematomorpha infection" EXACT [] synonym: "nematomorpha infections" EXACT [] synonym: "worm infection" EXACT [] xref: EFO:1001342 xref: ICD10CM:B83.9 xref: ICD9CM:120-129.99 xref: MESH:D006373 xref: NCI:C84751 is_a: DOID:1398 ! parasitic infectious disease [Term] id: DOID:8838 name: Hodgkin's lymphoma, nodular sclerosis synonym: "Classical Hodgkin lymphoma, nodular sclerosis" EXACT [] synonym: "EFO:0004708" EXACT [] synonym: "Hodgkin's disease, nodular sclerosis" RELATED [] synonym: "Hodgkin's disease, nodular sclerosis of unspecified site" EXACT [SNOMEDCT_2005_07_31:188564003] synonym: "Hodgkin lymphoma, nodular sclerosis" EXACT [] synonym: "NSHL" EXACT [NCI2004_11_17:C3518] xref: EFO:0004708 xref: ICD10CM:C81.1 xref: ICD9CM:201.5 xref: NCI:C3518 xref: RDO:9004182 is_a: DOID:8567 ! Hodgkin's lymphoma created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:884 name: metagonimiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Metagonimus yokogawai. The symptoms are diarrhea and colicky abdominal pain. The heart and brain can also be infected. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Metagonimiasis.htm "DO"] synonym: "infection by metagonimus yokogawai" EXACT [] synonym: "metagonimiases" EXACT [] xref: EFO:1001438 xref: ICD9CM:121.5 xref: NCI:C128390 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9002892 ! Parasitic Intestinal Diseases is_a: DOID:9004459 ! Trematode Infections [Term] id: DOID:8849 name: sublingual gland cancer def: "A salivary gland cancer that is located_in the sublingual gland. (DO)" [http://en.wikipedia.org/wiki/Sublingual_gland "DO"] synonym: "malignant tumor of sublingual gland" EXACT [] synonym: "malignant tumor of the sublingual gland" EXACT [] xref: ICD10CM:C08.1 xref: ICD9CM:142.2 xref: NCI:C3527 is_a: DOID:8850 ! salivary gland cancer [Term] id: DOID:885 name: fascioliasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the bile ducts of the liver by Fasciola hepatica or Fasciola gigantica. During the acute phase, manifestations include abdominal pain, hepatomegaly, fever, vomiting, diarrhea, urticaria and eosinophilia. Occasionally, infection occurs in intestinal wall, lungs, subcutaneous tissue, and pharyngeal mucosa. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Fascioliasis.htm "DO"] synonym: "Fasciola hepatica infection" EXACT [] synonym: "Fascioliases" EXACT [] synonym: "infection by Fasciola" EXACT [] synonym: "liver flukes" EXACT [] synonym: "sheep liver fluke infection" EXACT [] xref: EFO:1001324 xref: GARD:6428 xref: ICD10CM:B66.3 xref: ICD9CM:121.3 xref: MESH:D005211 xref: NCI:C128387 is_a: DOID:4138 ! bile duct disease is_a: DOID:888 ! fasciolopsiasis is_a: DOID:9003155 ! Parasitic Liver Diseases [Term] id: DOID:8850 name: salivary gland cancer def: "An oral cavity cancer that is located_in the salivary gland. (DO)" [http://www.cancer.gov/dictionary?CdrID=446528 "DO"] synonym: "cancer of salivary gland" EXACT [] synonym: "malignant neoplasm of salivary gland" EXACT [] synonym: "malignant tumor of the salivary gland" EXACT [] xref: EFO:0003826 xref: ICD10CM:C08 xref: ICD9CM:142.8 is_a: DOID:8618 ! oral cavity cancer is_a: DOID:9003216 ! Salivary Gland Neoplasms created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:8857 name: lupus erythematosus def: "An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29366725 "DO"] synonym: "lupus" EXACT [] xref: ICD10CM:L93 xref: ICD9CM:695.4 xref: NCI:C27153 is_a: DOID:0060032 ! autoimmune disease of musculoskeletal system created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8858 name: tonsil cancer synonym: "cancer of tonsil" EXACT [] synonym: "EFO:1001214" EXACT [] synonym: "malignant neoplasm of palatine tonsil" EXACT [] synonym: "malignant neoplasm of tonsil, faucial" EXACT [] synonym: "malignant tonsillar tumor" EXACT [] synonym: "malignant tumor of tonsil" EXACT [] synonym: "tonsil cancers" EXACT [] synonym: "tonsillar cancer" EXACT [] synonym: "tonsillar cancers" EXACT [] xref: EFO:1001214 xref: ICD10CM:C09 xref: ICD9CM:146.0 xref: NCI:C7404 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:8557 ! oropharynx cancer is_a: DOID:9008384 ! Tonsillar Neoplasms created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:8861 name: pulmonary subvalvular stenosis def: "Narrowing below the PULMONARY VALVE or well below it in the infundibuluar chamber where the pulmonary artery originates, usually caused by a defective VENTRICULAR SEPTUM or presence of fibrous tissues. It is characterized by restricted blood outflow from the RIGHT VENTRICLE into the PULMONARY ARTERY, exertional fatigue, DYSPNEA, and chest discomfort." [MESH:D011662] synonym: "Congenital Infundibular Stenosis" EXACT [NCI2004_11_17:C34961] synonym: "Infundibular pulmonic stenosis" EXACT [SNOMEDCT_2005_07_31:3192005] synonym: "Infundibular pulmonic stenosis, congenital" EXACT [ICD9CM_2006:746.83] synonym: "Obstructive Subaortic Conus" EXACT [] synonym: "Pulmonary Infundibular Stenoses" EXACT [] synonym: "Pulmonary Infundibular Stenosis" EXACT [] synonym: "Pulmonary Subvalvular Stenoses" EXACT [] synonym: "Subvalvular pulmonic stenosis" EXACT [MTHICD9_2006:746.83] xref: EFO:1001137 xref: ICD10CM:Q24.3 xref: ICD9CM:746.83 xref: MESH:D011662 xref: NCI:C34961 xref: RDO:0006440 is_a: DOID:6420 ! pulmonary valve stenosis [Term] id: DOID:8864 name: acute monocytic leukemia alt_id: MIM:151380 def: "A monocytic leukemia where the majority of monocytic cells are promonocytes. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&version=18.09d&ns=ncit&code=C4861 "DO"] synonym: "acute monoblastic leukemia" EXACT [] synonym: "acute monoblastic leukemia and acute monocytic leukemia" EXACT [] synonym: "Acute Monoblastic Leukemias" EXACT [] synonym: "acute monocytic leukaemia" EXACT [] synonym: "acute monocytic leukaemia without mention of remission" EXACT [] synonym: "acute monocytic leukemia, FAB M5" EXACT [] synonym: "acute monocytic leukemia, morphology" EXACT [] synonym: "acute monocytic leukemias" EXACT [] synonym: "acute monocytic leukemia without mention of remission" EXACT [] synonym: "childhood acute monocytic leukemia" NARROW [] synonym: "EFO:0000221" EXACT [] synonym: "Myeloid Leukemia, Acute, M5" EXACT [] synonym: "Schilling-type myeloid leukemia" EXACT [] xref: EFO:0000221 xref: EFO:1001944 xref: GARD:525 xref: ICD9CM:206.0 xref: ICDO:9891/3 xref: MESH:D007948 xref: NCI:C7171 is_a: DOID:8527 ! monocytic leukemia is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:8866 name: actinic keratosis def: "White or pink lesions on the arms, hands, face, or scalp that arise from sun-induced DNA DAMAGE to KERATINOCYTES in exposed areas. They are considered precursor lesions to superficial SQUAMOUS CELL CARCINOMA." [MESH:D055623] synonym: "actinic (Solar) Keratosis" EXACT [NCI2004_11_17:C3148] synonym: "Actinic Keratoses" EXACT [] synonym: "senile hyperkeratosis" EXACT [] synonym: "SK - solar keratosis" EXACT [] synonym: "Solar Keratosis" EXACT [] xref: EFO:0002496 xref: ICD10CM:L57.0 xref: ICD9CM:702.0 xref: ICDO:8070/0 xref: MESH:D055623 xref: NCI:C3148 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:161 ! keratosis [Term] id: DOID:8867 name: molluscum contagiosum def: "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Molluscum contagiosum virus, which is transmitted_by contact with the skin, and transmitted_by fomites. The infection has_symptom lesions which are flesh-colored with a pit in the center. (DO)" [http://en.wikipedia.org/wiki/Molluscum_contagiosum "DO", http://www.cdc.gov/ncidod/dvrd/molluscum/overview.htm "DO"] xref: EFO:0007375 xref: ICD10CM:B08.1 xref: ICD9CM:078.0 xref: MESH:D008976 xref: NCI:C155872 is_a: DOID:8729 ! milker's nodule is_a: DOID:9001063 ! Viral Skin Diseases [Term] id: DOID:8869 name: neuromyelitis optica def: "A central nervous system disease characterized by inflammation of the optic nerve (optic neuritis) and inflammation of the spinal cord (myelitis). (DO)" [http://en.wikipedia.org/wiki/Neuromyelitis_optica "DO", http://rarediseases.org/rare-diseases/neuromyelitis-optica/ "DO"] synonym: "AQP4-IgG-negative neuromyelitis optica" NARROW [] synonym: "AQP4-IgG-positive neuromyelitis optica" NARROW [] synonym: "Devic's disease" EXACT [] synonym: "Devic's neuromyelitis optica" EXACT [] synonym: "Devic's syndrome" EXACT [] synonym: "Devic disease" EXACT [] synonym: "Devic neuromyelitis optica" EXACT [] synonym: "Devic neuromyelitis opticas" EXACT [] synonym: "Devics disease" EXACT [] synonym: "Devics Neuromyelitis Optica" EXACT [] synonym: "Devics syndrome" EXACT [] synonym: "Devic syndrome" EXACT [] synonym: "neuromyelitis optica (NMO) spectrum disorder" EXACT [] synonym: "neuromyelitis optica spectrum disorder" EXACT [] synonym: "NMO spectrum disorder" EXACT [] xref: EFO:0004256 xref: EFO:0009584 xref: EFO:0009585 xref: GARD:6267 xref: ICD10CM:G36.0 xref: ICD9CM:341.0 xref: MESH:D009471 xref: NCI:C84934 xref: ORDO:71211 is_a: DOID:0060033 ! autoimmune disease of peripheral nervous system is_a: DOID:0080743 ! transverse myelitis is_a: DOID:1210 ! optic neuritis [Term] id: DOID:8872 name: penis carcinoma in situ def: "An in situ carcinoma that is located_in the penis. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/8126803 "DO"] synonym: "Bowen's disease of penis" EXACT [] synonym: "carcinoma in situ of penis" EXACT [] synonym: "grade III squamous Intraepithelial lesion of penis" EXACT [] synonym: "penile intraepithelial neoplasia grade III" EXACT [] synonym: "Queyrat's erythroplasia" EXACT [] xref: ICD10CM:D07.4 xref: ICD9CM:233.5 xref: NCI:C27790 is_a: DOID:3449 ! penis carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:888 name: fasciolopsiasis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Fasciolopsis buski. The symptoms include diarrhea, abdominal pain, fever, ascites, anasarca and intestinal obstruction. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Fasciolopsiasis.htm "DO"] synonym: "fasciolopsiases" EXACT [] synonym: "infection by Fasciolopsis buski" EXACT [] synonym: "infectious disease by Fasciolopsis" EXACT [] xref: ICD10CM:B66.5 xref: ICD9CM:121.4 xref: MESH:D014201 xref: MONDO:0004672 xref: NCI:C128388 is_a: DOID:9004459 ! Trematode Infections [Term] id: DOID:8881 name: rosacea def: "A cutaneous disorder primarily of convexities of the central part of the FACE, such as FOREHEAD; CHEEK; NOSE; and CHIN. It is characterized by FLUSHING; ERYTHEMA; EDEMA; RHINOPHYMA; papules; and ocular symptoms. It may occur at any age but typically after age 30. There are various subtypes of rosacea: erythematotelangiectatic, papulopustular, phymatous, and ocular (National Rosacea Society's Expert Committee on the Classification and Staging of Rosacea, J Am Acad Dermatol 2002; 46:584-7)." [MESH:D012393] synonym: "acne erythematosa" EXACT [] synonym: "Acne Rosacea" EXACT [] synonym: "acne roscea" EXACT [] synonym: "Erythematotelangiectatic Rosacea" EXACT [] synonym: "Granulomatous Rosacea" EXACT [] synonym: "Ocular Rosacea" EXACT [] synonym: "Papulopustular Rosacea" EXACT [] synonym: "Phymatous Rosacea" EXACT [] xref: EFO:1000760 xref: ICD10CM:L71 xref: ICD10CM:L71.9 xref: ICD9CM:695.3 xref: MESH:D012393 xref: NCI:C97136 is_a: DOID:37 ! skin disease [Term] id: DOID:8883 name: lower lip cancer xref: ICD10CM:C00.1 xref: ICD9CM:140.1 is_a: DOID:8564 ! lip cancer created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:8886 name: chorioretinitis def: "Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The inflammatory cells and exudate may burst through the sensory retina to cloud the vitreous body." [MESH:D002825] synonym: "Chorioretinitides" EXACT [] synonym: "Choroidoretinitis" EXACT [] synonym: "Retinochoroiditis" EXACT [] xref: GARD:6060 xref: ICD9CM:363.20 xref: MESH:D002825 xref: NCI:C110923 is_a: DOID:11406 ! choroiditis is_a: DOID:3612 ! retinitis [Term] id: DOID:8892 name: pityriasis rosea def: "A dermatitis that is characterized by an initial large round spot on the chest, abdomen, or back, often referred to as a herald patch, that is usually followed within a week by a distinctive pattern of similar but smaller papules on the torso, arms, and legs. (DO)" [https://www.mayoclinic.org/diseases-conditions/pityriasis-rosea/symptoms-causes/syc-20376405 "DO"] synonym: "pityriasis circinata" EXACT [] xref: EFO:1000756 xref: ICD10CM:L42 xref: ICD9CM:696.3 xref: MESH:D017515 xref: NCI:C26855 is_a: DOID:2723 ! dermatitis is_a: DOID:9007287 ! Pityriasis [Term] id: DOID:8893 name: psoriasis def: "A skin disease that is characterized by patches of thick red skin and silvery scales. (DO)" [https://www.cdc.gov/psoriasis/index.htm "DO"] synonym: "palmoplantaris pustulosis" EXACT [] synonym: "PALMOPLANTAR PUSTULOSIS" EXACT [] synonym: "Psoriases" EXACT [] synonym: "PSORIASIS, PROTECTION AGAINST" RELATED [] synonym: "pustular psoriasis 2" EXACT [] synonym: "pustular psoriasis of palms and soles" EXACT [] synonym: "pustulosis of palms and soles" EXACT [] synonym: "pustulosis palmaris et plantaris" EXACT [] xref: EFO:0000676 xref: GARD:10262 xref: ICD10CM:L40 xref: MESH:D011565 xref: MIM:PS177900 xref: NCI:C3346 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:9008246 ! Papulosquamous Skin Diseases [Term] id: DOID:890 name: mitochondrial encephalomyopathy def: "A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. These are often multisystemic and vary considerably in age at onset (usually in the first or second decade of life), distribution of affected muscles, severity, and course. (From Adams et al., Principles of Neurology, 6th ed, pp984-5)" [MESH:D017237] synonym: "ENCEPHALOCARDIOMYOPATHY, MITOCHONDRIAL" NARROW [] synonym: "mitochondrial encephalomyopathies" EXACT [] xref: MESH:D017237 xref: RDO:0003323 is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:891 name: progressive myoclonus epilepsy alt_id: MIM:310370 def: "A variable age at onset electroclinical syndrome characterized by a relentlessly progressive disease course until death. (DO)" [http://pn.bmj.com/content/15/3/164.long "DO"] synonym: "atypical inclusion body disease" EXACT [] synonym: "atypical inclusion-body diseases" EXACT [] synonym: "Biotin-Responsive Encephalopathies" EXACT [] synonym: "Biotin Responsive Encephalopathy" EXACT [] synonym: "Familial Progressive Myoclonic Epilepsy" EXACT [] synonym: "May White syndrome" EXACT [] synonym: "neuronal ceroid-lipofuscinosis, dominant/recessive" NARROW [] synonym: "neuronal ceroid-lipofuscinosis, recessive" NARROW [] synonym: "NOD" EXACT [] synonym: "PME" EXACT [] synonym: "progressive myoclonic epilepsies" EXACT [] synonym: "progressive myoclonic epilepsy" EXACT [] synonym: "progressive myoclonic epilepsy, X-linked" NARROW [] synonym: "progressive myoclonus epilepsies" EXACT [] xref: EFO:0020039 xref: GARD:7140 xref: MESH:D020191 xref: MIM:PS254800 xref: NCI:C7636 is_a: DOID:0050706 ! variable age at onset electroclinical syndrome is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:8912 name: tinea nigra def: "A superficial mycosis that is a superficial fungal infection of the skin characterized by brown to black macules which usually occur on the palmar aspects of hands and occasionally the plantar and other surfaces of the skin, caused by Hortaea werneckii, which is a common saprophytic fungus believed to occur in soil, compost, humus and on wood in humid tropical and sub-tropical regions. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/Superficial/Tinea_nigra/index.html "DO"] synonym: "infection by cladosporium werneckii" EXACT [] synonym: "keratomycosis nigricans" EXACT [] synonym: "microsporosis nigra" RELATED [] synonym: "tinea palmaris nigra" EXACT [] xref: ICD10CM:B36.1 xref: ICD9CM:111.1 xref: MESH:C000656904 is_a: DOID:0050133 ! superficial mycosis [Term] id: DOID:8913 name: dermatophytosis def: "A cutaneous mycosis that results_in fungal infection located_in scalp, located_in glabrous skin, or located_in nail, has_material_basis_in Ascomycota fungi that belong to a group called dermatophytes, which have the ability to utilize keratin as a nutrient source. Subtypes are classified by the location on the body. (DO)" [http://www.mycology.adelaide.edu.au/Mycoses/Cutaneous/Dermatophytosis/index.html "DO", https://en.wikipedia.org/wiki/Dermatophytosis "DO", https://www.cfsph.iastate.edu/Factsheets/pdfs/dermatophytosis.pdf "DO"] synonym: "epidermophytosis" EXACT [] synonym: "ringworm" EXACT [] synonym: "tinea" EXACT [] synonym: "trichophytosis" EXACT [] xref: EFO:0007510 xref: ICD10CM:B35 xref: ICD9CM:110 xref: MESH:D014005 xref: NCI:C26745 is_a: DOID:0050134 ! cutaneous mycosis is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:8920 name: leukoplakia of vagina def: "A vaginal disease that is a precancerous lesion that is characterized by the presence of white plaques which cannot be rubbed off. Histology shows increased keratin. (DO)" [https://en.wikipedia.org/wiki/Leukoplakia "DO"] synonym: "vaginal leukoplakia" EXACT [] xref: ICD10CM:N89.4 xref: ICD9CM:623.1 xref: NCI:C3663 is_a: DOID:121 ! vaginal disease [Term] id: DOID:8923 name: skin melanoma def: "A skin cancer that has_material_basis_in melanocytes. (DO)" [http://cancergenome.nih.gov/cancersselected/melanoma "DO", http://en.wikipedia.org/wiki/Melanoma "DO", http://www.cancer.gov/dictionary?CdrID=45135 "DO"] synonym: "cutaneous malignant melanoma" EXACT [] synonym: "cutaneous melanoma" EXACT [] synonym: "EFO:0000389" EXACT [] synonym: "hereditary dysplastic nevus syndrome" EXACT [] synonym: "malignant ear melanoma" EXACT [] synonym: "malignant lip melanoma" EXACT [] synonym: "malignant lower limb melanoma" EXACT [] synonym: "malignant melanoma of ear and/or external auricular canal" EXACT [] synonym: "malignant melanoma of skin" EXACT [] synonym: "malignant melanoma of skin of lower limb" NARROW [] synonym: "malignant melanoma of skin of trunk except scrotum" NARROW [] synonym: "malignant melanoma of skin of upper limb" NARROW [] synonym: "malignant neck melanoma" EXACT [] synonym: "malignant scalp melanoma" EXACT [] synonym: "malignant trunk melanoma" EXACT [] synonym: "malignant upper limb melanoma" NARROW [] xref: EFO:0000389 xref: ICD10CM:C43.9 xref: ICD9CM:172.9 xref: NCI:C3510 is_a: DOID:1909 ! melanoma is_a: DOID:4159 ! skin cancer [Term] id: DOID:8924 name: autoimmune thrombocytopenic purpura alt_id: MIM:188030 def: "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies. (DO)" [https://rarediseases.org/rare-diseases/immune-thrombocytopenia/ "DO"] synonym: "AITP" EXACT [] synonym: "Autoimmune Thrombocytopenia" EXACT [] synonym: "autoimmune thrombocytopenias" EXACT [] synonym: "autoimmune thrombocytopenic purpuras" EXACT [] synonym: "chronic idiopathic thrombocytopenic purpura" NARROW [] synonym: "ideopath thrombocytopenic pur" RELATED [] synonym: "idiopathic purpura" RELATED [] synonym: "idiopathic thrombocytopenic purpura" EXACT [] synonym: "Idiopathic Thrombocytopenic Purpuras" EXACT [] synonym: "Immune Thrombocytopenia" EXACT [] synonym: "Immune Thrombocytopenias" EXACT [] synonym: "Immune Thrombocytopenic Purpura" EXACT [] synonym: "immune thrombocytopenic purpuras" EXACT [] synonym: "ITP" EXACT [] synonym: "primary thrombocytopenic purpura" EXACT [] synonym: "Werlhof's disease" EXACT [] synonym: "Werlhof disease" EXACT [] synonym: "Werlhofs disease" EXACT [] xref: EFO:0007160 xref: ICD10CM:D69.3 xref: ICD9CM:287.31 xref: MESH:D016553 xref: NCI:C3446 xref: ORDO:3002 is_a: DOID:8925 ! primary thrombocytopenia is_a: DOID:9005876 ! Thrombocytopenic Purpura [Term] id: DOID:8925 name: primary thrombocytopenia xref: ICD9CM:287.39 xref: RDO:9003715 is_a: DOID:0060050 ! autoimmune disease of blood created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:8927 name: learning disability def: "A specific developmental disorder that involves difficulty in scholastic skills such as reading, writing, spelling, reasoning, recalling and/or organizing information resulting from the brain's inability to receive and process information. (DO)" [http://en.wikipedia.org/wiki/Learning_disability "DO", http://www.ldonline.org/ldbasics/whatisld "DO"] synonym: "academic skill disorder" EXACT [] synonym: "adult learning disorder" EXACT [] synonym: "adult learning disorders" EXACT [] synonym: "Developmental Academic Disorder" EXACT [] synonym: "Developmental Academic Disorders" EXACT [] synonym: "Developmental Disorders of Scholastic Skills" EXACT [] synonym: "Learning Disabilities" EXACT [] synonym: "Learning Disorder" EXACT [] synonym: "Learning Disorders" EXACT [] synonym: "Learning Disturbance" EXACT [] synonym: "Learning Disturbances" EXACT [] synonym: "scholastic skills development disorders" EXACT [] synonym: "specific learning disability" NARROW [] xref: ICD10CM:F81.9 xref: MESH:D007859 xref: NCI:C89334 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:2033 ! communication disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:8929 name: atrophic gastritis def: "GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis." [MESH:D005757] synonym: "atrophic gastritides" EXACT [] synonym: "gastric atrophy" EXACT [] xref: EFO:1000826 xref: ICD10CM:K29.4 xref: ICD9CM:535.1 xref: MESH:D005757 xref: NCI:C7405 is_a: DOID:4029 ! gastritis [Term] id: DOID:893 name: Wilson disease alt_id: OMIA:001071 alt_id: OMIA:001988 def: "A metal metabolism disease that is characterized by excess copper stored in various body tissues, particularly the liver, brain, and corneas of the eyes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/32279718/ "DO", https://www.genome.gov/Genetic-Disorders/Wilson-Disease "DO"] synonym: "cerebral pseudoscleroses" EXACT [] synonym: "cerebral pseudosclerosis" EXACT [] synonym: "copper storage disease" EXACT [] synonym: "hepatic form of Wilson disease" EXACT [] synonym: "Hepatocerebral Degeneration" EXACT [] synonym: "hepatocerebral degenerations" EXACT [] synonym: "hepatolenticular degeneration" EXACT [] synonym: "Hepatolenticular Degeneration Syndrome" EXACT [] synonym: "Hepato Neurologic Wilson Disease" EXACT [] synonym: "hepato-neurologic Wilson diseases" EXACT [] synonym: "Kinnier Wilson Disease" EXACT [] synonym: "Kinnier-Wilson diseases" EXACT [] synonym: "neurohepatic degeneration" EXACT [] synonym: "neurohepatic degenerations" EXACT [] synonym: "progressive lenticular degeneration" EXACT [] synonym: "pseudosclerosis" EXACT [] synonym: "WD" EXACT [] synonym: "Westphal pseudosclerosis" EXACT [] synonym: "Westphal Strumpell syndrome" EXACT [] synonym: "Wilson's disease" EXACT [] synonym: "Wilson disease, COMMD1 type" NARROW [] synonym: "Wilson disease, hepatic form" NARROW [] synonym: "Wilsons disease" EXACT [] synonym: "WND" EXACT [] xref: GARD:7893 xref: ICD10CM:E83.01 xref: MESH:D006527 xref: MIM:277900 xref: MONDO:0010200 xref: NCI:C84756 is_a: DOID:409 ! liver disease is_a: DOID:480 ! movement disease is_a: DOID:679 ! basal ganglia disease is_a: DOID:896 ! metal metabolism disorder is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:8930 name: retromolar area cancer synonym: "malignant tumor of retromolar area" EXACT [SNOMEDCT_2005_07_31:363391009] xref: ICD10CM:C06.2 xref: ICD9CM:145.6 is_a: DOID:8618 ! oral cavity cancer [Term] id: DOID:8931 name: Evans' syndrome synonym: "Autoimmune hemolytic anemia and autoimmune thrombocytopenia" EXACT [] xref: GARD:6389 xref: ICD10CM:D69.41 xref: ICD9CM:287.32 xref: MESH:C536380 xref: NCI:C61284 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome is_a: DOID:718 ! autoimmune hemolytic anemia is_a: DOID:8925 ! primary thrombocytopenia [Term] id: DOID:8936 name: plantar fascial fibromatosis def: "A connective tissue disease characterized by progressive fibrosis and thickening located_in the palmar fascia and has_symptom early painless nodules, has_symptom decreased range of motion, has_symptom weakened grip, and has_symptom eventual contracture. (DO)" [https://en.wikipedia.org/wiki/Plantar_fibromatosis "DO"] synonym: "Dupuytren's contracture of foot" EXACT [] synonym: "EFO:1000481" EXACT [] synonym: "Ledderhose's Disease" EXACT [] synonym: "Ledderhose Disease" EXACT [] synonym: "plantar fibromatosis" EXACT [] xref: EFO:1000481 xref: ICD10CM:M72.2 xref: ICD9CM:728.71 xref: MESH:D000071380 xref: NCI:C4680 is_a: DOID:0050871 ! fibroma is_a: DOID:65 ! connective tissue disease is_a: DOID:9006836 ! Contracture is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:8937 name: Waldeyer's ring cancer synonym: "malignant neoplasm of Waldeyer's ring" EXACT [] synonym: "malignant tumor of Waldeyer's ring" EXACT [] synonym: "Waldeyer ring cancer" EXACT [] xref: ICD10CM:C14.2 xref: ICD9CM:149.1 is_a: DOID:0060073 ! lymphatic system cancer is_a: DOID:8557 ! oropharynx cancer [Term] id: DOID:8941 name: seborrheic infantile dermatitis def: "A seborrheic dermatitis that involves fungal infection of the scalp of recently born babies caused by Malassezia furfur. It is occasionally linked to immune disorders. The symptoms include thick, crusty, yellow or brown scales over the child's scalp. (DO)" [http://en.wikipedia.org/wiki/Cradle_cap "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000963.htm "DO"] synonym: "complement 5 dysfunction" EXACT [] synonym: "cradle cap" EXACT [] synonym: "generalized seborrheic dermatitis of infants" EXACT [] synonym: "infantile seborrhoeic dermatitis" EXACT [] synonym: "pityriasis capitis" EXACT [] synonym: "seborrhea capitis" EXACT [] synonym: "seborrhea sicca" EXACT [] synonym: "seborrhoea capitis" EXACT [] synonym: "seborrhoeic dermatitis of scalp" EXACT [] synonym: "seborrhoeic eczema of scalp" EXACT [] xref: EFO:1000765 xref: ICD10CM:L21.0 xref: ICD9CM:690.11 is_a: DOID:8741 ! seborrheic dermatitis [Term] id: DOID:8943 name: lattice corneal dystrophy def: "An epithelial-stromal TGFBI dystrophy that is characterized by recurrent erosions and lattice line refractile and fleck-like opacification located_in the cornea, amyloid deposits beginning in the anterior stroma, and progressive vision loss later in life, and has_material_basis_in autosomal dominant inheritance of mutation of transforming growth factor beta-induced gene located in chromosome 5q31.1, which encodes keratoepithelin. Abnormalities lead to increased amyloid protein deposition and disruption of the corneal surface. (DO)" [https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm "DO", https://www.omim.org/entry/122200 "DO"] synonym: "familial amyloid neuropathy, Finnish type" RELATED [] synonym: "LCD" EXACT [] is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0060441 ! epithelial-stromal TGFBI dystrophy is_a: DOID:9001512 ! Familial Amyloid Polyneuropathies [Term] id: DOID:8946 name: severe nonproliferative diabetic retinopathy synonym: "High risk non proliferative diabetic retinopathy" EXACT [SNOMEDCT_2005_07_31:390720006] synonym: "Severe NPDR" EXACT [SNOMEDCT_2005_07_31:312905005] xref: ICD9CM:362.06 xref: RDO:9002151 is_a: DOID:13208 ! background diabetic retinopathy created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:8947 name: diabetic retinopathy def: "Disease of the RETINA as a complication of DIABETES MELLITUS. It is characterized by the progressive microvascular complications, such as ANEURYSM, interretinal EDEMA, and intraocular PATHOLOGIC NEOVASCULARIZATION." [MESH:D003930] synonym: "diabetic eye disease" BROAD [] synonym: "diabetic retinopathies" EXACT [] synonym: "retinal abnormality - diabetes-related" EXACT [] xref: EFO:0003770 xref: EFO:0009486 xref: ICD9CM:362.0 xref: MESH:D003930 xref: NCI:C34538 is_a: DOID:11713 ! diabetic angiopathy is_a: DOID:2462 ! retinal vascular disease [Term] id: DOID:8955 name: sideroblastic anemia def: "A microcytic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes). (DO)" [http://en.wikipedia.org/wiki/Sideroblastic_anemia "DO"] synonym: "hypochromic anemia with iron loading" EXACT [] synonym: "RARS" NARROW [] synonym: "RARS-T" NARROW [] synonym: "refractory anaemia with ringed sideroblasts" NARROW [] synonym: "refractory anaemia with sideroblasts" NARROW [] synonym: "refractory anemia with ring sideroblasts and thrombocytosis" NARROW [] synonym: "SIDEROBLASTIC ANEMIA, ACQUIRED IDIOPATHIC" NARROW [] synonym: "sideroblastic anemias" EXACT [] xref: EFO:0003812 xref: GARD:667 xref: ICD10CM:D64.3 xref: ICD9CM:285.0 xref: MESH:D000756 xref: MIM:PS300751 xref: NCI:C36078 is_a: DOID:11252 ! microcytic anemia is_a: DOID:12449 ! aplastic anemia is_a: DOID:9000300 ! Refractory Anemia [Term] id: DOID:8956 name: cowpox def: "A viral infectious disease that results_in infection in rodents, cows, and humans, located_in skin, has_material_basis_in Cowpox virus, which is transmitted_by contact with an infected animal. The infection results_in_formation_of vesicopustular lesions on the hands or face. (DO)" [https://www.nejm.org/doi/10.1056/NEJMicm1702548?url_ver=Z39.88-2003&rfr_id=ori%3Arid%3Acrossref.org&rfr_dat=cr_pub%3Dwww.ncbi.nlm.nih.gov "DO"] synonym: "cow pox" EXACT [] synonym: "yaba" EXACT [] xref: EFO:0007225 xref: ICD10CM:B08.010 xref: ICD9CM:051.01 xref: MESH:D015605 is_a: DOID:8729 ! milker's nodule [Term] id: DOID:896 name: metal metabolism disorder def: "An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_metal_metabolism "DO"] synonym: "inborn metal metabolism disorder" EXACT [CSP2005:4000-0215] synonym: "Metal Metabolism, Inborn Error" EXACT [] synonym: "Metal Metabolism, Inborn Errors" EXACT [] xref: MESH:D008664 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:8969 name: tonsillar fossa cancer synonym: "malignant neoplasm of tonsillar fossa" EXACT [] synonym: "malignant tumor of tonsillar fossa" EXACT [] xref: ICD10CM:C09.0 xref: ICD9CM:146.1 is_a: DOID:8557 ! oropharynx cancer created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:8970 name: subacute sclerosing panencephalitis alt_id: MIM:260470 def: "A viral infectious disease that results_in infection located_in brain and that has_material_basis_in Measles virus which is immune resistant. (DO)" [http://en.wikipedia.org/wiki/Subacute_sclerosing_panencephalitis "DO"] synonym: "immunosuppressive measles encephalitis" EXACT [] synonym: "inclusion body encephalitis, measles" EXACT [] synonym: "SSPE" EXACT [] synonym: "subacute sclerosing leukoencephalitides" EXACT [] synonym: "subacute sclerosing leukoencephalitis" EXACT [] synonym: "subacute sclerosing leukoencephalopathy" EXACT [] synonym: "subacute sclerosing panencephalitides" EXACT [] synonym: "Van Bogaert's leukoencephalitis" EXACT [] synonym: "Van Bogaert's sclerosing leukoencephalitis" EXACT [] synonym: "Van Bogaert leukoencephalitis" EXACT [] synonym: "Van Bogaerts leukoencephalitis" EXACT [] xref: EFO:0007502 xref: GARD:7708 xref: ICD10CM:A81.1 xref: ICD9CM:046.2 xref: MESH:D013344 xref: NCI:C85171 is_a: DOID:646 ! viral encephalitis is_a: DOID:8622 ! measles is_a: DOID:9004448 ! Slow Virus Diseases is_a: DOID:934 ! viral infectious disease [Term] id: DOID:898 name: autosomal dominant polycystic kidney disease def: "A polycystic kidney disease characterized by the presence of multiple cysts located_in the kidney resulting from ciliopathy that disrupts the function of primary cilium, inherited in an autosomal dominant fashion. (DO)" [https://en.wikipedia.org/wiki/Ciliopathy#cite_note-davenport2008-4 "DO", https://rarediseases.info.nih.gov/diseases/10413/autosomal-dominant-polycystic-kidney-disease "DO", https://www.genome.gov/Genetic-Disorders/Autosomal-Polycystic-Kidney-Disease "DO"] synonym: "ADPKD" EXACT [] synonym: "adult polycystic kidney disease" EXACT [] synonym: "congenital biliary ectasias" EXACT [] synonym: "POLYCYSTIC KIDNEY AND HEPATIC DISEASE 1" EXACT [] xref: EFO:1001496 xref: GARD:10413 xref: ICD10CM:Q61.3 xref: ICD9CM:753.12 xref: MESH:D016891 xref: NCI:C84578 xref: ORDO:730 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:0080322 ! polycystic kidney disease [Term] id: DOID:8986 name: narcolepsy alt_id: MIM:605841 alt_id: MIM:609039 alt_id: MIM:612417 alt_id: MIM:612851 alt_id: MIM:614223 alt_id: OMIA:000703 def: "A sleep disorder that involves an excessive urge to sleep at inappropriate times, such as while at work. (DO)" [http://en.wikipedia.org/wiki/Narcolepsy "DO"] synonym: "Gelineau's Syndrome" EXACT [] synonym: "Gelineau's syndromes" EXACT [] synonym: "Gelineaus Syndrome" EXACT [] synonym: "Gelineau Syndrome" EXACT [] synonym: "NARCOLEPSY 2, SUSCEPTIBILITY TO" NARROW [] synonym: "NARCOLEPSY 3" NARROW [] synonym: "NARCOLEPSY 4, SUSCEPTIBILITY TO" RELATED [] synonym: "NARCOLEPSY 5, SUSCEPTIBILITY TO" RELATED [] synonym: "NARCOLEPSY 6, SUSCEPTIBILITY TO" RELATED [] synonym: "Narcolepsy, without cataplexy" NARROW [] synonym: "Narcoleptic Syndrome" EXACT [] synonym: "Narcoleptic Syndromes" EXACT [] synonym: "NRCLP2" NARROW [] synonym: "NRCLP3" NARROW [] synonym: "NRCLP4" NARROW [] synonym: "NRCLP5" NARROW [] synonym: "NRCLP6" NARROW [] synonym: "paroxysmal sleep" EXACT [] xref: EFO:0005855 xref: GARD:7162 xref: ICD10CM:G47.41 xref: ICD9CM:347.0 xref: MESH:D009290 xref: MIM:PS161400 xref: NCI:C84489 xref: ORDO:2073 is_a: DOID:8619 ! recurrent hypersomnia [Term] id: DOID:899 name: choledochal cyst alt_id: MIM:603003 def: "A bile duct disease characterized by cystic dilation of one or more extrahepatic or intrahepatic bile ducts. (DO)" [https://pubmed.ncbi.nlm.nih.gov/35212316/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK557762/ "DO"] synonym: "Bile Duct Cyst" EXACT [] synonym: "bile duct cysts" EXACT [] synonym: "biliary cyst" EXACT [] synonym: "Choledochal Cysts" EXACT [] synonym: "Choledochal Cyst, Type I" EXACT [] synonym: "Choledochal Cyst, Type II" EXACT [] synonym: "Choledochal Cyst, Type III" EXACT [] synonym: "Choledochal Cyst, Type IV" EXACT [] synonym: "Choledochal Cyst, Type V" EXACT [] synonym: "Choledochal Diverticulum" EXACT [] synonym: "Choledochal Diverticulums" EXACT [] synonym: "Choledochocele" EXACT [] synonym: "Choledochoceles" EXACT [] synonym: "Common Bile Duct Cyst" EXACT [] synonym: "Congenital Choledochal Cyst" EXACT [] synonym: "Congenital Choledochal Cysts" EXACT [] synonym: "Cysts, Common Bile Duct" EXACT [] synonym: "Diverticulum Choledochal Cyst" EXACT [] synonym: "Diverticulum Choledochal Cysts" EXACT [] synonym: "Intrahepatic Choledochal Cyst" EXACT [] synonym: "Intrahepatic Choledochal Cysts" EXACT [] synonym: "Multiple Choledochal Cyst" EXACT [] synonym: "multiple choledochal cysts" EXACT [] xref: GARD:9229 xref: ICD10CM:Q44.4 xref: MESH:D015529 xref: NCI:C2943 xref: ORDO:480501 is_a: DOID:4138 ! bile duct disease is_a: DOID:9001683 ! Digestive System Abnormalities is_a: DOID:9007583 ! Cysts [Term] id: DOID:8991 name: cervix uteri carcinoma in situ def: "An uterus carcinoma in situ that is located_in the uterine cervix. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1503328/ "DO"] synonym: "carcinoma in situ of cervix" EXACT [] synonym: "carcinoma in situ of uterine cervix" EXACT [] synonym: "carcinoma of cervix stage 0" EXACT [] synonym: "cervical intraepithelial neoplasia" EXACT [] synonym: "Cervical Intraepithelial Neoplasia, Grade III" EXACT [] synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" EXACT [] synonym: "Cervical Intraepithelial Neoplasm" EXACT [] synonym: "Cervical Intraepithelial Neoplasms" EXACT [] synonym: "cervix Ca in situ" EXACT [] synonym: "CIN III" EXACT [] synonym: "CIN III - carcinoma in situ of cervix" EXACT [] synonym: "CIN III - severe dyskaryosis" EXACT [] synonym: "severe dysplasia of cervix" EXACT [] synonym: "severe dysplasia of the cervix uteri" EXACT [] synonym: "squamous intraepithelial neoplasia, grade III" EXACT [] xref: ICD10CM:D06 xref: ICD9CM:233.1 xref: MESH:D002578 xref: NCI:C3782 xref: NCI:C4000 is_a: DOID:9003373 ! Uterine Cervical Neoplasms is_a: DOID:9108 ! uterus carcinoma in situ [Term] id: DOID:8997 name: polycythemia vera alt_id: DOID:11868 alt_id: MIM:263300 def: "A myeloproliferative neoplasm characterized by erythroid hyperplasia, myeloid leukocytosis, thrombocytosis, and splenomegaly. (DO)" [https://en.wikipedia.org/wiki/Polycythemia_vera "DO", https://rarediseases.info.nih.gov/diseases/7422/polycythemia-vera "DO", https://www.mayoclinic.org/diseases-conditions/polycythemia-vera/symptoms-causes/syc-20355850 "DO"] synonym: "chronic erythremia" EXACT [] synonym: "EFO:0002429" EXACT [] synonym: "erythremia" EXACT [] synonym: "erythremias" EXACT [] synonym: "HEMOGLOBIN VILLEJUIF" RELATED [] synonym: "Osler-Vaquez disease" EXACT [] synonym: "Osler-Vaquez syndrome" EXACT [] synonym: "polycythaemia rubra vera" EXACT [] synonym: "polycythemia ruba vera" EXACT [] synonym: "polycythemia ruba veras" EXACT [] synonym: "polycythemia rubra vera" EXACT [] synonym: "polycythemia rubra veras" EXACT [] synonym: "proliferative polycythaemia" EXACT [] synonym: "PRV" EXACT [] synonym: "PV" EXACT [] xref: EFO:0002429 xref: GARD:7422 xref: ICD10CM:D45 xref: ICD9CM:207.1 xref: ICD9CM:238.4 xref: ICDO:9950/3 xref: MESH:D011087 xref: NCI:C3336 is_a: DOID:10780 ! primary polycythemia is_a: DOID:1240 ! leukemia is_a: DOID:2226 ! myeloproliferative neoplasm [Term] id: DOID:90 name: degenerative disc disease def: "A bone deterioration disease that has_material_basis_in gradual dehydration and tears located_in intervertebral disc. (DO)" [http://en.wikipedia.org/wiki/Degenerative_disc_disease "DO", http://www.cedars-sinai.edu/Patients/Health-Conditions/Degenerative-Disc-Disease.aspx "DO"] synonym: "cervical disc degenerative disease" NARROW [] synonym: "Degenerative Intervertebral Disc" EXACT [] synonym: "degenerative intervertebral discs" EXACT [] synonym: "Degenerative Intervertebral Disk" EXACT [] synonym: "degenerative intervertebral disks" EXACT [] synonym: "Disc Degeneration" EXACT [] synonym: "Disc Degenerations" EXACT [] synonym: "Disc Degradation" EXACT [] synonym: "Disc Degradations" EXACT [] synonym: "Disk Degeneration" EXACT [] synonym: "Disk Degenerations" EXACT [] synonym: "Disk Degradation" EXACT [] synonym: "Disk Degradations" EXACT [] synonym: "Intervertebral Disc Degeneration" EXACT [] synonym: "Intervertebral Disc Degenerations" EXACT [] synonym: "intervertebral disc degradation" EXACT [] synonym: "intervertebral disk degeneration" EXACT [] synonym: "intervertebral disk degenerations" EXACT [] synonym: "lumbar disc degeneration" NARROW [] synonym: "vertebral disc disease" EXACT [] xref: EFO:0004994 xref: EFO:0009537 xref: MESH:D055959 xref: NCI:C27156 is_a: DOID:0080007 ! bone deterioration disease [Term] id: DOID:900 name: hepatopulmonary syndrome def: "A syndrome characterized by the clinical triad of advanced chronic liver disease, pulmonary vascular dilatations, and reduced arterial oxygenation (HYPOXEMIA) in the absence of intrinsic cardiopulmonary disease. This syndrome is common in the patients with LIVER CIRRHOSIS or portal hypertension (HYPERTENSION, PORTAL)." [MESH:D020065] synonym: "Hepato Pulmonary Syndrome" EXACT [] synonym: "Hepato-Pulmonary Syndromes" EXACT [] synonym: "Hepatopulmonary Syndromes" EXACT [] xref: EFO:1001346 xref: ICD10CM:K76.81 xref: ICD9CM:573.5 xref: MESH:D020065 is_a: DOID:225 ! syndrome is_a: DOID:409 ! liver disease is_a: DOID:850 ! lung disease [Term] id: DOID:9000002 name: Leukemia L1210 def: "An experimental LYMPHOCYTIC LEUKEMIA of mice." [MESH:D007939] synonym: "Leukemia L 1210" EXACT [] xref: MESH:D007939 is_a: DOID:9004441 ! Experimental Leukemia [Term] id: DOID:9000004 name: Optic Atrophy with Demyelinating Disease of CNS xref: MESH:C563496 xref: RDO:0012738 is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:9000006 name: Supraventricular Tachycardia def: "A generic expression for any tachycardia that originates above the BUNDLE OF HIS." [MESH:D013617] synonym: "Supraventricular Tachycardias" EXACT [] xref: MESH:D013617 is_a: DOID:9002554 ! Tachycardia [Term] id: DOID:9000009 name: Chromosome 1, Monosomy 1p32 synonym: "Deletion 1p32" EXACT [] synonym: "Monosomy 1p32" EXACT [] xref: MESH:C535594 xref: RDO:0000812 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9000011 name: Gallbladder Neoplasms def: "Tumors or cancer of the gallbladder." [MESH:D005706] synonym: "gallbladder neoplasm" EXACT [] synonym: "tumor of the gallbladder" EXACT [] xref: EFO:0004606 xref: MESH:D005706 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:9000012 name: Fracture Dislocation def: "Fracture of a bone near an articulation with concomitant dislocation of that joint." [MESH:D000072039] synonym: "Dislocation Fractures" EXACT [] synonym: "Fracture Dislocations" EXACT [] xref: MESH:D000072039 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9003279 ! Joint Dislocations [Term] id: DOID:9000016 name: Peritoneal Carcinomatosis def: "This neoplastic disease most often develops when other abdominal epithelial tumors spread to the peritoneum, leading to multiple new tumors on the surface of this membrane. Peritoneal carcinomatosis generally means that abdominal cancer is in an advanced stage. There are also very rare cases of primary peritoneal carcinomatosis, which begins in the peritoneum itself." [https://www.webmd.com, ISBN-13:978-0781733908] synonym: "Carcinomatosis of peritoneum" EXACT [] xref: PMID:28439450 is_a: DOID:1791 ! peritoneal carcinoma created_by: slaulede creation_date: 2020-12-21T18:13:26Z [Term] id: DOID:9000017 name: Devriendt syndrome alt_id: MIM:610136 xref: MESH:C535947 xref: RDO:0001326 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000018 name: Coronary Vessel Anomalies def: "Malformations of CORONARY VESSELS, either arteries or veins. Included are anomalous origins of coronary arteries; ARTERIOVENOUS FISTULA; CORONARY ANEURYSM; MYOCARDIAL BRIDGING; and others." [MESH:D003330] synonym: "Coronary Vessel Anomaly" EXACT [] xref: MESH:D003330 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9000019 name: Attention Deficit-Hyperactivity Disorder 8 synonym: "ADHD8" EXACT [] xref: MIM:619957 is_a: DOID:1094 ! attention deficit hyperactivity disorder created_by: mtutaj creation_date: 2022-07-18T11:35:37Z [Term] id: DOID:9000020 name: Fabry Disease, Cardiac Variant def: "A form of Fabry Disease characterized by LEFT VENTRICULAR HYPERTROPHY that occurs in the sixth decade of life. It is associated with specific mutations, including Q279E and R301Q, in the GLA (ALPHA-GALACTOSIDASE) gene. OMIM: 300644.0008" [MESH:C567062] xref: MESH:C567062 is_a: DOID:14499 ! Fabry disease is_a: DOID:9004616 ! Left Ventricular Hypertrophy [Term] id: DOID:9000021 name: Familial Plantar Fibromatosis alt_id: RDO:0013822 synonym: "Ledderhose disease" RELATED [] synonym: "Plantar fibromas" EXACT [] xref: MESH:C565084 is_a: DOID:0050871 ! fibroma is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:9000022 name: Talo-Patello-Scaphoid Osteolysis, Synovitis, and Short Fourth Metacarpals alt_id: MIM:609655 xref: MESH:C536894 is_a: DOID:2703 ! synovitis is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:9000023 name: Camurati Engelmann Disease, Type 2 alt_id: MIM:606631 alt_id: RDO:0003906 alt_id: RDO:0013562 synonym: "Camurati-Engelmann Disease, Type II" EXACT [] synonym: "Progressive diaphyseal dysplasia with striations of the bones" EXACT [] xref: MESH:C537978 xref: MESH:C564689 is_a: DOID:4997 ! Camurati-Engelmann disease [Term] id: DOID:9000024 name: Norwalk Virus Infections synonym: "Norwalk virus infection, resistance to" RELATED [] synonym: "SECRETOR/NONSECRETOR POLYMORPHISM" RELATED [] is_a: DOID:9006923 ! Caliciviridae Infections [Term] id: DOID:9000025 name: Central Nervous System Infections def: "Pathogenic infections of the brain, spinal cord, and meninges. DNA VIRUS INFECTIONS; RNA VIRUS INFECTIONS; BACTERIAL INFECTIONS; MYCOPLASMA INFECTIONS; SPIROCHAETALES INFECTIONS; fungal infections; PROTOZOAN INFECTIONS; HELMINTHIASIS; and PRION DISEASES may involve the central nervous system as a primary or secondary process." [] synonym: "Central Nervous System Infection" EXACT [] xref: EFO:1001456 xref: MESH:D002494 is_a: DOID:331 ! central nervous system disease is_a: DOID:9004384 ! Bacterial Infections and Mycoses [Term] id: DOID:9000027 name: Microsatellite Instability def: "The occurrence of highly polymorphic mono- and dinucleotide MICROSATELLITE REPEATS in somatic cells. It is a form of genome instability associated with defects in DNA MISMATCH REPAIR." [MESH:D053842] synonym: "Replication Error Phenotype" EXACT [] synonym: "Replication Error Phenotypes" EXACT [] xref: MESH:D053842 xref: RDO:0007641 is_a: DOID:9002981 ! Genomic Instability [Term] id: DOID:9000028 name: Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia alt_id: MIM:251240 xref: MESH:C565381 is_a: DOID:10907 ! microcephaly is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:9001487 ! Facies [Term] id: DOID:9000029 name: Amyloidosis of Gingiva and Conjunctiva, with Mental Retardation alt_id: MIM:204850 synonym: "amyloidosis of gingiva and conjunctiva with impaired intellectual development" EXACT [] xref: MESH:C565958 is_a: DOID:1059 ! intellectual disability is_a: DOID:1483 ! gingival disease is_a: DOID:4251 ! conjunctival disease is_a: DOID:9004492 ! Familial Amyloidosis [Term] id: DOID:9000030 name: Radial Ray Hypoplasia Choanal Atresia alt_id: MIM:179270 synonym: "Radial Ray Hypoplasia with Choanal Atresia" EXACT [] xref: MESH:C536263 is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9574 ! choanal atresia [Term] id: DOID:9000032 name: Graham-Boyle-Troxell Syndrome synonym: "Cystic hamartoma of lung and kidney" EXACT [] synonym: "Cystic hamartomata of lung and kidney" EXACT [] xref: GARD:2557 xref: MESH:C537292 xref: MONDO:0023275 xref: ORDO:2111 is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome is_a: DOID:9002265 ! Kidney Neoplasms is_a: DOID:9005172 ! Lung Neoplasms [Term] id: DOID:9000033 name: Sakoda Complex alt_id: MIM:610871 synonym: "Sakoda Spectrum" EXACT [] synonym: "Sphenoethmoidal Encephalomeningocele, Agenesis of the Corpus Callosum, and Cleft Lip-Palate" EXACT [] xref: MESH:C567055 is_a: DOID:1088 ! meningocele is_a: DOID:674 ! cleft palate is_a: DOID:9000983 ! Encephalocele is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9296 ! cleft lip [Term] id: DOID:9000034 name: Chromosome 10q Duplication Syndrome synonym: "10q duplication syndrome" EXACT [] synonym: "10q Partial trisomy" EXACT [] synonym: "Trisomy 10q" EXACT [] xref: MESH:C537804 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000035 name: Primary Effusion Lymphoma def: "A rare neoplasm of large B-cells usually presenting as serious effusions without detectable tumor masses. The most common sites of involvement are the pleural, pericardial, and peritoneal cavities. It is associated with HUMAN HERPESVIRUS 8, most often occurring in the setting of immunodeficiency." [MESH:D054685] synonym: "Primary Effusion Lymphomas" EXACT [] xref: EFO:1000491 xref: MESH:D054685 xref: NCI:C6915 is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:9000036 name: Cornual Pregnancy def: "A type of pregnancy in which the EMBRYO IMPLANTATION occurs in the horn of the UTERUS instead of in the uterine cavity, i.e. at the junction of the uterus and one of the FALLOPIAN TUBES." [MESH:D065173] synonym: "Cornual Pregnancies" EXACT [] xref: MESH:D065173 is_a: DOID:0060329 ! ectopic pregnancy [Term] id: DOID:9000037 name: Lymphatic Malformation 10 def: "An autosomal dominant disorder characterized by onset of lymphedema within the first year of life, primarily involving the lower extremities although it also may appear in the neck, upper extremities, and scrotum or labia majora. Caused by heterozygous mutation in the ANGPT2 gene on chromosome 8p23. (OMIM)" [] synonym: "LMPHM10" EXACT [] xref: MIM:619369 is_a: DOID:0050580 ! hereditary lymphedema created_by: mtutaj creation_date: 2021-06-04T11:50:05Z [Term] id: DOID:9000038 name: Urban Schosser Spohn Syndrome alt_id: MIM:158310 synonym: "Hereditary mucoepithelial dysplasia" EXACT [] synonym: "HMD" EXACT [] xref: MESH:C536476 is_a: DOID:161 ! keratosis is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:987 ! alopecia [Term] id: DOID:9000039 name: Spinal Cord Injuries def: "Penetrating and non-penetrating injuries to the spinal cord resulting from traumatic external forces (e.g., WOUNDS, GUNSHOT; WHIPLASH INJURIES; etc.)." [MESH:D013119] synonym: "acute spinal cord injury" NARROW [] synonym: "Post-Traumatic Myelopathies" EXACT [] synonym: "Post Traumatic Myelopathy" EXACT [] synonym: "Spinal Cord Contusion" EXACT [] synonym: "Spinal Cord Contusions" EXACT [] synonym: "Spinal Cord Injury" EXACT [] synonym: "Spinal Cord Laceration" EXACT [] synonym: "Spinal Cord Lacerations" EXACT [] synonym: "Spinal Cord Transection" EXACT [] synonym: "Spinal Cord Transections" EXACT [] synonym: "Spinal Cord Trauma" EXACT [] synonym: "Spinal Cord Traumas" EXACT [] synonym: "Traumatic Myelopathies" EXACT [] synonym: "Traumatic Myelopathy" EXACT [] xref: EFO:1001919 xref: MESH:D013119 xref: RDO:0006597 is_a: DOID:319 ! spinal cord disease is_a: DOID:9001600 ! Wounds and Injuries is_a: DOID:9006062 ! Nervous System Trauma [Term] id: DOID:9000040 name: Hypertrophy def: "General increase in bulk of a part or organ due to CELL ENLARGEMENT and accumulation of FLUIDS AND SECRETIONS, not due to tumor formation, nor to an increase in the number of cells (HYPERPLASIA)." [MESH:D006984] synonym: "Hypertrophies" EXACT [] xref: EFO:0002460 xref: MESH:D006984 xref: RDO:0001544 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9000041 name: Fetal Weight def: "The weight of the FETUS in utero. It is usually estimated by various formulas based on measurements made during PRENATAL ULTRASONOGRAPHY." [MESH:D020567] synonym: "Fetal Body Weight" EXACT [] synonym: "Fetal Body Weights" EXACT [] synonym: "Fetal Weights" EXACT [] xref: MESH:D020567 xref: RDO:0007421 is_a: DOID:9007633 ! Body Weight [Term] id: DOID:9000043 name: Angiokeratoma Corporis Diffusum with Arteriovenous Fistulas alt_id: MIM:600419 xref: MESH:C563940 is_a: DOID:14499 ! Fabry disease is_a: DOID:9005605 ! Arteriovenous Fistula [Term] id: DOID:9000044 name: Al Gazali Hirschsprung Syndrome alt_id: MIM:235760 synonym: "Al Gazali Donnai Mueller syndrome" EXACT [] synonym: "Hirschsprung's disease, hypoplastic nails, and dysmorphic facial features" EXACT [] synonym: "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features" EXACT [] synonym: "Hirschsprung Disease with Hypoplastic Nails and Dysmorphic Facial Features" EXACT [] xref: MESH:C535615 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:225 ! syndrome is_a: DOID:4123 ! nail disease is_a: DOID:9001487 ! Facies [Term] id: DOID:9000045 name: De Hauwere syndrome alt_id: MIM:109120 synonym: "Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities" EXACT [] synonym: "Iris Dysplasia with Ocular Hypertelorism, Psychomotor Retardation, and Sensorineural Deafness" EXACT [] xref: MESH:C566234 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9005077 ! Joint Instability is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9000046 name: Poisoning def: "A condition or physical state produced by the ingestion, injection, inhalation of or exposure to a deleterious agent." [MESH:D011041] synonym: "Benzene toxicity, susceptibility to" RELATED [] synonym: "Poisonings" EXACT [] xref: EFO:0008546 xref: MESH:D011041 is_a: DOID:9008261 ! Chemically-Induced Disorders [Term] id: DOID:9000047 name: Dystonia with Ringbinden alt_id: MIM:224550 xref: MESH:C565608 is_a: DOID:543 ! dystonia is_a: DOID:9006836 ! Contracture [Term] id: DOID:9000048 name: Thymic Epithelial Tumor synonym: "Epithelial tumor of thymus" EXACT [] synonym: "Thymoma, adult" EXACT [] xref: MESH:C536905 is_a: DOID:9005161 ! Thymus Neoplasms is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:9000049 name: Deoxyribose-5-Phosphate Aldolase Deficiency alt_id: MIM:125460 xref: MESH:C565112 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9000050 name: Medium Chain 3-Ketoacyl-CoA Thiolase Deficiency alt_id: MIM:602199 synonym: "MCKAT deficiency" EXACT [] xref: MESH:C566566 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9000051 name: PHOSPHORIBOSYLAMINOIMIDAZOLE CARBOXYLASE DEFICIENCY def: "This disease is an autosomal recessive disorder characterized by multiple congenital anomalies and early neonatal death." [MIM:619859] synonym: "PAICSD" EXACT [] xref: MIM:619859 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2022-07-07T10:30:35Z [Term] id: DOID:9000052 name: Breech Presentation def: "A malpresentation of the FETUS at near term or during OBSTETRIC LABOR with the fetal cephalic pole in the fundus of the UTERUS. There are three types of breech: the complete breech with flexed hips and knees; the incomplete breech with one or both hips partially or fully extended; the frank breech with flexed hips and extended knees." [MESH:D001946] synonym: "Breech Fetal Presentation" EXACT [] synonym: "Breech Labor Presentation" EXACT [] synonym: "Complete Breech" EXACT [] synonym: "Frank Breech Presentation" EXACT [] synonym: "Incomplete Breech" EXACT [] xref: MESH:D001946 xref: RDO:0005062 is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:9000053 name: Headache def: "The symptom of PAIN in the cranial region. It may be an isolated benign occurrence or manifestation of a wide variety of HEADACHE DISORDERS." [MESH:D006261] synonym: "Bilateral Headache" EXACT [] synonym: "Bilateral Headaches" EXACT [] synonym: "Cephalalgia" EXACT [] synonym: "Cephalalgias" EXACT [] synonym: "Cephalgia" EXACT [] synonym: "Cephalgias" EXACT [] synonym: "Cephalodynia" EXACT [] synonym: "Cephalodynias" EXACT [] synonym: "Cranial Pain" EXACT [] synonym: "Cranial Pains" EXACT [] synonym: "Generalized Headache" EXACT [] synonym: "Generalized Headaches" EXACT [] synonym: "Headaches" EXACT [] synonym: "Head Pain" EXACT [] synonym: "Head Pains" EXACT [] synonym: "Hemicrania" EXACT [] synonym: "Ocular Headache" EXACT [] synonym: "Ocular Headaches" EXACT [] synonym: "Orthostatic Headache" EXACT [] synonym: "Orthostatic Headaches" EXACT [] synonym: "Periorbital Headache" EXACT [] synonym: "Periorbital Headaches" EXACT [] synonym: "Retro Ocular Headache" EXACT [] synonym: "Retro-Ocular Headaches" EXACT [] synonym: "Sharp Headache" EXACT [] synonym: "Sharp Headaches" EXACT [] synonym: "Throbbing Headache" EXACT [] synonym: "Throbbing Headaches" EXACT [] synonym: "Unilateral Headache" EXACT [] synonym: "Unilateral Headaches" EXACT [] synonym: "Vertex Headache" EXACT [] synonym: "Vertex Headaches" EXACT [] xref: MESH:D006261 is_a: DOID:9000641 ! Pain [Term] id: DOID:9000054 name: Drug-Induced Akathisia def: "A condition associated with the use of certain medications and characterized by an internal sense of motor restlessness often described as an inability to resist the urge to move." [MESH:D017109] synonym: "Drug-Induced Acathisia" EXACT [] synonym: "Pseudoakathisia" EXACT [] synonym: "Tardive Akathisia" EXACT [] xref: EFO:1000903 xref: MESH:D017109 is_a: DOID:3602 ! toxic encephalopathy is_a: DOID:480 ! movement disease is_a: DOID:9001366 ! Psychomotor Agitation is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions [Term] id: DOID:9000055 name: Myelolipoma def: "A rare benign tumor of the adrenal gland, several centimeters in diameter, composed in varying proportions of adipose tissue, lymphocytes, and primitive myeloid cells, probably a developmental abnormality. (Dorland, 27th ed)" [MESH:D018209] synonym: "Myelolipomas" EXACT [] xref: EFO:1000074 xref: MESH:D018209 is_a: DOID:9008378 ! Adipose Tissue Neoplasms [Term] id: DOID:9000056 name: IMMUNODEFICIENCY 108 WITH AUTOINFLAMMATION alt_id: MIM:260570 synonym: "CEBPE-RELATED CONDITION" BROAD [] synonym: "IMD108" EXACT [] synonym: "immunodeficiency-108 with autoinflammation" EXACT [] synonym: "Pelger-Huet-Like Anomaly and Episodic Fever with Abdominal Pain" EXACT [] xref: MESH:C564899 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9000972 ! Fever is_a: DOID:9005734 ! Abdominal Pain is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9000057 name: Pseudohypoaldosteronism Type IB2, Autosomal Recessive def: "A pseudohypoaldosteronism characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. Caused by homozygous mutation in the beta subunit of the epithelial sodium channel (ENaC), SCNN1B, on chromosome 16p12." [MIM:620125] synonym: "PHA1B2" EXACT [] xref: MIM:620125 is_a: DOID:0060854 ! autosomal recessive pseudohypoaldosteronism type 1 created_by: mtutaj creation_date: 2022-12-05T08:43:34Z [Term] id: DOID:9000058 name: Keloid alt_id: MIM:148100 def: "A sharply elevated, irregularly shaped, progressively enlarging scar resulting from formation of excessive amounts of collagen in the dermis during connective tissue repair. It is differentiated from a hypertrophic scar (CICATRIX, HYPERTROPHIC) in that the former does not spread to surrounding tissues." [MESH:D007627] synonym: "keloid formation" RELATED [] synonym: "Keloids" EXACT [] synonym: "KLDF" EXACT [] xref: EFO:0004212 xref: MESH:D007627 is_a: DOID:854 ! collagen disease is_a: DOID:9004739 ! Cicatrix [Term] id: DOID:9000059 name: Long QT Syndrome 2/5 alt_id: RDO:0015022 synonym: "LONG QT SYNDROME 2/5, DIGENIC" EXACT [] synonym: "LQT2/5, DIGENIC" EXACT [] xref: MESH:C566765 is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:9000060 name: Cardiac Conduction Defect, Nonspecific alt_id: RDO:0015606 xref: MESH:C567557 is_a: DOID:9001836 ! Cardiac Conduction Defect [Term] id: DOID:9000061 name: Cote Katsantoni Syndrome xref: MESH:C536449 xref: RDO:0002043 is_a: DOID:225 ! syndrome is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:9000123 ! Deglutition Disorders is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9000062 name: Retinal Hemorrhage def: "Bleeding from the vessels of the retina." [MESH:D012166] synonym: "Retinal Hemorrhages" EXACT [] xref: MESH:D012166 is_a: DOID:5679 ! retinal disease is_a: DOID:9004938 ! Eye Hemorrhage [Term] id: DOID:9000063 name: Primary Granulocytic Sarcoma xref: EFO:1000286 xref: MESH:C536413 is_a: DOID:8683 ! myeloid sarcoma [Term] id: DOID:9000064 name: Cardiac Arrhythmias alt_id: MIM:115000 def: "Any disturbances of the normal rhythmic beating of the heart or MYOCARDIAL CONTRACTION. Cardiac arrhythmias can be classified by the abnormalities in HEART RATE, disorders of electrical impulse generation, or impulse conduction." [MESH:D001145] synonym: "Arrhythmia" EXACT [] synonym: "Arrythmia" EXACT [] synonym: "Cardiac Arrhythmia" EXACT [] synonym: "Cardiac Dysrhythmia" EXACT [] synonym: "RYR2-RELATED CONDITION" BROAD [] synonym: "VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME" NARROW [] xref: EFO:0004269 xref: MESH:D001145 is_a: DOID:114 ! heart disease is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9000065 name: Myopia 25, Autosomal Dominant synonym: "myopia-25" RELATED [] synonym: "MYP25" RELATED [] xref: MIM:617238 xref: RDO:9001499 is_a: DOID:11830 ! myopia [Term] id: DOID:9000066 name: Jaw Abnormalities def: "Congenital absence of or defects in structures of the jaw." [MESH:D007569] synonym: "Jaw Abnormality" EXACT [] xref: MESH:D007569 is_a: DOID:9003876 ! Jaw Diseases is_a: DOID:9004563 ! Maxillofacial Abnormalities [Term] id: DOID:9000067 name: Congenital Foot Deformities def: "Alterations or deviations from normal shape or size which result in a disfigurement of the foot occurring at or before birth." [MESH:D005532] synonym: "congenital foot deformity" EXACT [] xref: MESH:D005532 is_a: DOID:0080015 ! physical disorder is_a: DOID:9003938 ! Foot Deformities is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital [Term] id: DOID:9000068 name: X-linked Spondyloepimetaphyseal Dysplasia with Hypomyelinating Leukodystrophy alt_id: MIM:300232 synonym: "leukoencephalopathy with metaphyseal chondrodysplasia" EXACT [] synonym: "LKMCD" EXACT [] synonym: "SEMDHL" EXACT [] synonym: "X-linked SEMD with mental deterioration" EXACT [] synonym: "X-linked spondyloepimetaphyseal dysplasia with mental deterioration" EXACT [] xref: MESH:C567065 is_a: DOID:0112150 ! X-linked spondyloepimetaphyseal dysplasia is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:9000069 name: Prostatic Stromal Proliferation of Uncertain Malignant Potential xref: MESH:C537245 is_a: DOID:11132 ! prostatic hypertrophy [Term] id: DOID:9000070 name: Progressive Renal Failure with Hypertension alt_id: MIM:161900 alt_id: RDO:0012415 synonym: "AORF" EXACT [] synonym: "Nephritis, Familial, without Deafness or Ocular Defect" EXACT [] synonym: "Nephropathy, Familial" EXACT [] synonym: "Renal Failure, Adult-Onset" EXACT [] synonym: "RFH1" EXACT [] xref: MESH:C562889 is_a: DOID:9003234 ! Hypertensive Nephropathy [Term] id: DOID:9000071 name: Signs and Symptoms def: "Clinical manifestations that can be either objective when observed by a physician, or subjective when perceived by the patient." [MESH:D012816] xref: EFO:0003765 xref: MESH:D012816 is_a: DOID:9000298 ! Pathological Conditions, Signs and Symptoms [Term] id: DOID:9000073 name: Metaphyseal Chondrodysplasia is_a: DOID:2256 ! osteochondrodysplasia creation_date: 2018-02-15T00:00:00Z [Term] id: DOID:9000074 name: Facial Dysmorphism, Cleft Palate, Hearing Loss, and Camptodactyly alt_id: MIM:602556 xref: MESH:C566524 is_a: DOID:674 ! cleft palate is_a: DOID:9003113 ! Hearing Loss, Mixed Conductive-Sensorineural is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000075 name: Pancreatic Lipomatosis Duodenal Stenosis synonym: "Pancreatic lipomatosis and duodenal atresia" EXACT [] xref: MESH:C535839 xref: RDO:0001169 is_a: DOID:26 ! pancreas disease is_a: DOID:3153 ! lipomatosis is_a: DOID:3558 ! duodenal obstruction [Term] id: DOID:9000076 name: Closed Fractures def: "Fractures in which the break in bone is not accompanied by an external wound." [MESH:D005596] synonym: "Closed Fracture" EXACT [] synonym: "Occult Fracture" EXACT [] synonym: "Occult Fractures" EXACT [] xref: MESH:D005596 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9000077 name: GOMBO Syndrome alt_id: MIM:233270 synonym: "Growth retardation, ocular abnormalities, microcephaly, brachydactyly, and oligophrenia" EXACT [] xref: MESH:C537284 is_a: DOID:0050581 ! brachydactyly is_a: DOID:10629 ! microphthalmia is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9003483 ! Conductive Hearing Loss is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9000078 name: Black Hairy Tongue synonym: "Black tongue" EXACT [] synonym: "Lingua Nigra" EXACT [] synonym: "Lingua Villosa Nigra" EXACT [] xref: MESH:C538420 is_a: DOID:13500 ! hairy tongue [Term] id: DOID:9000079 name: Ancylostoma Duodenale Infection xref: MESH:C538433 is_a: DOID:12841 ! ancylostomiasis [Term] id: DOID:9000080 name: Choroid Plexus Neoplasms def: "Benign or malignant tumors which arise from the choroid plexus of the ventricles of the brain. Papillomas (see PAPILLOMA, CHOROID PLEXUS) and carcinomas are the most common histologic subtypes, and tend to seed throughout the ventricular and subarachnoid spaces. Clinical features include headaches, ataxia and alterations of consciousness, primarily resulting from associated HYDROCEPHALUS. (From Devita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2072; J Neurosurg 1998 Mar;88(3):521-8)" [MESH:D016545] synonym: "choroid plexus neoplasm" EXACT [] synonym: "Choroid Plexus Tumor" EXACT [] synonym: "Choroid Plexus Tumors" EXACT [] synonym: "primary choroid plexus neoplasms" EXACT [] xref: MESH:D016545 is_a: DOID:9002898 ! Cerebral Ventricle Neoplasms [Term] id: DOID:9000081 name: Lymphatic Metastasis def: "Transfer of a neoplasm from its primary site to lymph nodes or to distant parts of the body by way of the lymphatic system." [MESH:D008207] synonym: "Lymphatic Metastases" EXACT [] synonym: "lymph node metastatic carcinoma" NARROW [] xref: EFO:0004906 xref: EFO:1001364 xref: MESH:D008207 xref: RDO:0006041 is_a: DOID:75 ! lymphatic system disease is_a: DOID:9000965 ! Neoplasm Metastasis [Term] id: DOID:9000083 name: Foot Deformities, Acquired def: "Distortion or disfigurement of the foot, or a part of the foot, acquired through disease or injury after birth." [MESH:D005531] synonym: "Acquired Foot Deformity" EXACT [] xref: MESH:D005531 xref: RDO:0005519 is_a: DOID:9003938 ! Foot Deformities [Term] id: DOID:9000084 name: Childhood-Onset Neurodegeneration with Cerebellar Atrophy synonym: "CONDCA" EXACT [] xref: EFO:0010256 xref: MIM:618276 is_a: DOID:1289 ! neurodegenerative disease created_by: mtutaj creation_date: 2019-04-30T00:00:00Z [Term] id: DOID:9000085 name: Book Syndrome alt_id: MIM:112300 synonym: "PHC Syndrome" EXACT [] xref: MESH:C562993 is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9004062 ! Hyperhidrosis is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9000086 name: Rhiny alt_id: MIM:180360 xref: MESH:C566708 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9000087 name: Catastrophic Illness def: "An acute or prolonged illness usually considered to be life-threatening or with the threat of serious residual disability. Treatment may be radical and is frequently costly." [MESH:D002388] synonym: "Catastrophic Illnesses" EXACT [] xref: MESH:D002388 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9000090 name: Chromosome 3, Trisomy 3q synonym: "Duplication 3q" EXACT [] synonym: "Trisomy 3q" EXACT [] xref: MESH:C536813 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000092 name: Radioulnar Synostosis, Radial Ray Abnormalities, and Severe Malformations in the Male alt_id: MIM:300233 xref: MESH:C564557 is_a: DOID:9827 ! radioulnar synostosis [Term] id: DOID:9000093 name: Arakawa Syndrome 2 synonym: "Arakawa's syndrome 2" EXACT [] synonym: "Arakawa's syndrome II" EXACT [] synonym: "Methionine synthase deficiency" EXACT [] synonym: "N5-methylhomocysteine transferase deficiency" EXACT [] synonym: "Tetrahydrofolate-methyltransferase deficiency syndrome" EXACT [] xref: MESH:C537426 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9000094 name: Pterygium Of Conjunctiva And Cornea alt_id: MIM:178000 xref: MESH:C566740 xref: RDO:0015009 is_a: DOID:0002116 ! pterygium [Term] id: DOID:9000096 name: Lung Agenesis alt_id: MIM:265430 synonym: "congenital lung agenesis" EXACT [] synonym: "experimental pulmonary hypoplasia" NARROW [] synonym: "primary pulmonary hypoplasia" EXACT [] synonym: "Pulmonary agenesis" EXACT [] synonym: "pulmonary hypoplasia" EXACT [] synonym: "Unilateral lobar pulmonary agenesis" EXACT [] synonym: "unilateral lung agenesis" EXACT [] xref: MESH:C562992 is_a: DOID:850 ! lung disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000097 name: Skin/Hair/Eye Pigmentation, Variation In, 10 alt_id: MIM:612267 synonym: "SHEP10" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 10, Blond-Brown Hair" EXACT [] xref: MESH:C567376 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9000098 name: Mucus Inspissation of Respiratory Tract alt_id: MIM:253240 xref: MESH:C565366 is_a: DOID:3083 ! chronic obstructive pulmonary disease [Term] id: DOID:9000099 name: Experimental Colitis def: "Colitis induced experimentally in laboratory animals by administration of various agents such as dextran sulfate sodium (DSS), 2,4,6-trinitrobenzene sulfonic acid (TNBS), or acetic acid. Experimental colitis can also be induced by a procedure like colon diversion or radiation treatment." [PMID:20877947, PMID:30878575, PMID:32036253] is_a: DOID:0060180 ! colitis is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9000100 name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA def: "This disease is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia." [MIM:619651] synonym: "NEDHYD" EXACT [] xref: MIM:619651 is_a: DOID:9002362 ! Hyperkinesis is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-02-10T18:08:28Z [Term] id: DOID:9000101 name: Rectovaginal Fistula def: "An abnormal anatomical passage between the RECTUM and the VAGINA." [MESH:D012006] synonym: "Rectovaginal Fistulas" EXACT [] xref: MESH:D012006 is_a: DOID:0060328 ! anal fistula is_a: DOID:9002824 ! Vaginal Fistula [Term] id: DOID:9000103 name: Aprosencephaly and Cerebellar Dysgenesis alt_id: MIM:601374 xref: MESH:C563331 is_a: DOID:0060668 ! anencephaly [Term] id: DOID:9000104 name: Glomerular Diseases def: "A set of diseases affecting the glomeruli of the nephron, that may or may not be inflammatory." [] synonym: "Glomerulopathy" EXACT [] xref: EFO:1002049 xref: RDO:9000066 is_a: DOID:557 ! kidney disease [Term] id: DOID:9000105 name: Glaucoma with Elevated Episcleral Venous Pressure alt_id: MIM:137700 xref: MESH:C564235 is_a: DOID:1067 ! open-angle glaucoma [Term] id: DOID:9000106 name: Oculomotor Nerve Injuries def: "Traumatic injuries to the OCULOMOTOR NERVE. This may result in various eye movement dysfunction." [MESH:D061220] synonym: "Cranial Nerve III Injury" EXACT [] synonym: "Oculomotor Nerve Avulsion" EXACT [] synonym: "Oculomotor Nerve Avulsions" EXACT [] synonym: "Oculomotor Nerve Contusion" EXACT [] synonym: "Oculomotor Nerve Contusions" EXACT [] synonym: "Oculomotor Nerve Injury" EXACT [] synonym: "Oculomotor Nerve Transection" EXACT [] synonym: "Oculomotor Nerve Transections" EXACT [] synonym: "Oculomotor Nerve Trauma" EXACT [] synonym: "Oculomotor Nerve Traumas" EXACT [] synonym: "Third Cranial Nerve Injuries" EXACT [] synonym: "Third Cranial Nerve Injury" EXACT [] synonym: "Third Nerve Trauma" EXACT [] synonym: "Third-Nerve Traumas" EXACT [] synonym: "Traumatic Oculomotor Neuropathies" EXACT [] synonym: "Traumatic Oculomotor Neuropathy" EXACT [] synonym: "Traumatic Third-Nerve Palsies" EXACT [] synonym: "Traumatic Third Nerve Palsy" EXACT [] xref: MESH:D061220 is_a: DOID:562 ! third cranial nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9000107 name: Hall Riggs Mental Retardation Syndrome alt_id: MIM:234250 xref: MESH:C535623 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000108 name: Dermochondrocorneal Dystrophy of François alt_id: MIM:221800 synonym: "Dermochondrocorneal dystrophy" EXACT [] synonym: "Francois syndrome" EXACT [] xref: MESH:C535375 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:2566 ! corneal dystrophy [Term] id: DOID:9000109 name: Haemophilus Infections def: "Infections with bacteria of the genus HAEMOPHILUS." [MESH:D006192] synonym: "Haemophilus Infection" EXACT [] synonym: "Hemophilus Infection" EXACT [] synonym: "Hemophilus Infections" EXACT [] synonym: "primary Haemophilus infectious disease" EXACT [] xref: EFO:1001127 xref: MESH:D006192 xref: RDO:0001648 is_a: DOID:9008746 ! Pasteurellaceae Infections [Term] id: DOID:9000110 name: Congenital Chylous Ascites alt_id: MIM:208300 xref: MESH:C531654 is_a: DOID:9005107 ! Chylous Ascites [Term] id: DOID:9000111 name: Radiation Injuries def: "Harmful effects of non-experimental exposure to ionizing or non-ionizing radiation in VERTEBRATES." [MESH:D011832] synonym: "Radiation-induced nausea and vomiting" EXACT [] synonym: "Radiation Injury" EXACT [] synonym: "Radiation Sickness" EXACT [] synonym: "Radiation Sicknesses" EXACT [] synonym: "Radiation Syndrome" EXACT [] synonym: "Radiation Syndromes" EXACT [] xref: EFO:0006912 xref: EFO:0009566 xref: MESH:D011832 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9000112 name: Alopecia Contractures Dwarfism Mental Retardation alt_id: MIM:203550 synonym: "ACD Mental Retardation Syndrome" EXACT [] synonym: "Alopecia-contractures-dwarfism mental retardation syndrome" EXACT [] xref: MESH:C537051 is_a: DOID:1059 ! intellectual disability is_a: DOID:9006836 ! Contracture is_a: DOID:9007661 ! Dwarfism is_a: DOID:987 ! alopecia [Term] id: DOID:9000113 name: Pneumococcal Meningitis def: "An acute purulent infection of the meninges and subarachnoid space caused by Streptococcus pneumoniae, most prevalent in children and adults over the age of 60. This illness may be associated with OTITIS MEDIA; MASTOIDITIS; SINUSITIS; RESPIRATORY TRACT INFECTIONS; sickle cell disease (ANEMIA, SICKLE CELL); skull fractures; and other disorders. Clinical manifestations include FEVER; HEADACHE; neck stiffness; and somnolence followed by SEIZURES; focal neurologic deficits (notably DEAFNESS); and COMA. (From Miller et al., Merritt's Textbook of Neurology, 9th ed, p111)" [MESH:D008586] synonym: "Experimental Pneumococcal Meningitides" EXACT [] synonym: "Experimental Pneumococcal Meningitis" EXACT [] synonym: "Meningitis, Pneumococcal, Penicillin-Resistant" EXACT [] synonym: "Pneumococcal Meningitides" EXACT [] synonym: "recurrent pneumococcal meningitis" EXACT [] synonym: "Streptococcus pneumoniae Meningitides" EXACT [] synonym: "streptococcus pneumoniae meningitis" EXACT [] xref: EFO:1001114 xref: MESH:D008586 is_a: DOID:9000989 ! Pneumococcal Infections is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:9000114 name: Bone Anteversion def: "Malalignment of a bone in which its head and neck is rotated excessively forward or inward." [MESH:D060750] synonym: "Bone Antetorsion" EXACT [] synonym: "Bone Antetorsions" EXACT [] synonym: "Bone Anteversions" EXACT [] xref: EFO:1001274 xref: MESH:D060750 is_a: DOID:9000314 ! Torsion Abnormality is_a: DOID:9001456 ! Bone Malalignment [Term] id: DOID:9000115 name: Posthemorrhagic Hydrocephalus def: "Posthemorrhagic Hydrocephalus is an abnormal expansion of cavities (ventricles) within the brain that is caused by the accumulation of cerebrospinal fluid, secondary to hemorrhage into the ventricles or the subarachnoid space." [] synonym: "PHH" EXACT [] xref: RDO:9000079 is_a: DOID:10908 ! hydrocephalus [Term] id: DOID:9000116 name: Cleft Palate, Midfacial Hypoplasia, Triangular Facies, and Sensorineural Hearing Loss alt_id: MIM:609466 synonym: "Unusual triangular facies associated with cleft palate, malocclusion, midfacial hypoplasia and sensorineural hearing loss" EXACT [] xref: MESH:C536427 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:674 ! cleft palate is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000117 name: Esophageal Neoplasms def: "Tumors or cancer of the ESOPHAGUS." [MESH:D004938] synonym: "Esophageal Neoplasm" EXACT [] synonym: "Esophagus Neoplasm" EXACT [] synonym: "Esophagus Neoplasms" EXACT [] xref: MESH:D004938 is_a: DOID:6050 ! esophageal disease is_a: DOID:9006169 ! Head and Neck Neoplasms is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:9000118 name: Paranasal Sinus Neoplasms def: "Tumors or cancer of the PARANASAL SINUSES." [MESH:D010255] synonym: "neoplasm of accessory sinus" EXACT [] synonym: "paranasal sinus neoplasms" EXACT [] synonym: "tumor of accessory sinus" EXACT [] xref: MESH:D010255 xref: NCI:C7488 is_a: DOID:1352 ! paranasal sinus disease is_a: DOID:9007971 ! Nose Neoplasms created_by: mtutaj creation_date: 2020-04-21T07:38:16Z [Term] id: DOID:9000119 name: Left-Sided Gallbladder alt_id: RDO:0002739 xref: MESH:C537001 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:9000120 name: Deafness Hyperuricemia Neurologic Ataxia xref: MESH:C535995 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9004866 ! Ataxia is_a: DOID:9008681 ! Deafness [Term] id: DOID:9000121 name: Malocclusion alt_id: MIM:154300 def: "Such malposition and contact of the maxillary and mandibular teeth as to interfere with the highest efficiency during the excursive movements of the jaw that are essential for mastication. (Jablonski, Illustrated Dictionary of Dentistry, 1982)" [MESH:D008310] synonym: "Angle's Classification" EXACT [] synonym: "Angle Classification" EXACT [] synonym: "Angles Classification" EXACT [] synonym: "Cross Bite" EXACT [] synonym: "Crossbite" EXACT [] synonym: "Cross Bites" EXACT [] synonym: "Crossbites" EXACT [] synonym: "Crowdings, Tooth" EXACT [] synonym: "Malocclusions" EXACT [] synonym: "Tooth Crowding" EXACT [] xref: MESH:D008310 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9000122 name: Pulmonary Surfactant Metabolism Dysfunction 3 alt_id: MIM:610921 synonym: "congenital pulmonary alveolar proteinosis 3" EXACT [] synonym: "Interstitial Lung Disease Due To ABCA3 Deficiency" EXACT [] synonym: "PRIMARY INTERSTITIAL LUNG DISEASE SPECIFIC TO CHILDHOOD DUE TO PULMONARY SURFACTANT PROTEIN ANOMALIES" EXACT [] synonym: "SMDP3" EXACT [] xref: MESH:C567046 xref: NCI:C99070 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis [Term] id: DOID:9000123 name: Deglutition Disorders def: "Difficulty in SWALLOWING which may result from neuromuscular disorder or mechanical obstruction. Dysphagia is classified into two distinct types: oropharyngeal dysphagia due to malfunction of the PHARYNX and UPPER ESOPHAGEAL SPHINCTER; and esophageal dysphagia due to malfunction of the ESOPHAGUS." [MESH:D003680] synonym: "Deglutition Disorder" EXACT [] synonym: "Dysphagia" EXACT [] synonym: "Esophageal Dysphagia" EXACT [] synonym: "Oropharyngeal Dysphagia" EXACT [] synonym: "Swallowing Disorder" EXACT [] synonym: "Swallowing Disorders" EXACT [] xref: MESH:D003680 is_a: DOID:6050 ! esophageal disease is_a: DOID:9004130 ! Pharyngeal Diseases [Term] id: DOID:9000124 name: Perrault Syndrome 5 synonym: "PRLTS5" EXACT [] xref: MIM:616138 is_a: DOID:0050857 ! Perrault syndrome [Term] id: DOID:9000125 name: Orofacial Granulomatosis def: "A condition characterized by persistent or recurrent labial enlargement, ORAL ULCER, and other orofacial manifestations in the absence of identifiable CROHN DISEASE; or SARCOIDOSIS. Among experts there is disagreement on whether orofacial granulomatosis is a distinct clinical disorder or an initial presentation of Crohn disease." [MESH:D051261] synonym: "Orofacial Granulomatoses" EXACT [] xref: EFO:1001820 xref: MESH:D051261 is_a: DOID:403 ! mouth disease is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9000127 name: Knobloch Syndrome Type II alt_id: MIM:618458 synonym: "KNO2" EXACT [] synonym: "Knobloch Syndrome 2" EXACT [] xref: MESH:C548030 is_a: DOID:9002033 ! Knobloch Syndrome [Term] id: DOID:9000128 name: Galactorrhea-Hyperprolactinemia synonym: "Galactorrhoea-Hyperprolactinaemia" EXACT [] xref: GARD:8400 xref: MESH:C535402 is_a: DOID:12700 ! hyperprolactinemia is_a: DOID:9002090 ! Galactorrhea [Term] id: DOID:9000129 name: Pelvic Infection def: "Infection involving the tissues or organs in the PELVIS." [MESH:D034161] synonym: "Pelvic Infections" EXACT [] xref: MESH:D034161 is_a: DOID:0050117 ! disease by infectious agent is_a: DOID:9009146 ! Urogenital Diseases [Term] id: DOID:9000131 name: Emerging Communicable Diseases def: "Infectious diseases that are novel in their outbreak ranges (geographic and host) or transmission mode." [MESH:D021821] synonym: "Emerging Communicable Disease" EXACT [] synonym: "Emerging Infectious Disease" EXACT [] synonym: "Emerging Infectious Diseases" EXACT [] synonym: "Re-Emerging Communicable Disease" EXACT [] synonym: "Reemerging Communicable Disease" EXACT [] synonym: "Re-Emerging Communicable Diseases" EXACT [] synonym: "Reemerging Communicable Diseases" EXACT [] synonym: "Re-Emerging Infectious Disease" EXACT [] synonym: "Reemerging Infectious Disease" EXACT [] synonym: "Re-Emerging Infectious Diseases" EXACT [] synonym: "Reemerging Infectious Diseases" EXACT [] xref: MESH:D021821 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:9000132 name: Ayazi Syndrome synonym: "choroideremia deafness obesity" EXACT [] synonym: "choroideremia, obesity, and congenital deafness" EXACT [] synonym: "choroideremia with deafness and obesity" EXACT [] xref: MESH:C537793 is_a: DOID:225 ! syndrome is_a: DOID:9008681 ! Deafness is_a: DOID:9821 ! Choroideremia is_a: DOID:9970 ! obesity [Term] id: DOID:9000133 name: Sneezing def: "The sudden, forceful, involuntary expulsion of air from the NOSE and MOUTH caused by irritation to the MUCOUS MEMBRANES of the upper RESPIRATORY TRACT." [MESH:D012912] synonym: "Sneezings" EXACT [] xref: EFO:0004290 xref: MESH:D012912 is_a: DOID:9000575 ! Respiratory Signs and Symptoms [Term] id: DOID:9000134 name: Chromosome 10, Monosomy 10q synonym: "Deletion 10q" EXACT [] synonym: "Monosomy 10q" EXACT [] synonym: "Terminal deletion of chromosome 10q" EXACT [] xref: MESH:C538289 xref: RDO:0004251 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9000136 name: Osteoma of Middle Ear alt_id: MIM:259650 xref: MESH:C564917 is_a: DOID:9004412 ! Osteoma [Term] id: DOID:9000137 name: Corneal Dystrophy, Fuchs' Endothelial, 1 alt_id: MIM:136800 synonym: "Corneal Dystrophy, Fuchs Endothelial 1" EXACT [] synonym: "Corneal Dystrophy, Fuchs Endothelial, Early-Onset" EXACT [] synonym: "Dystrophia epithelialis corneae" EXACT [] synonym: "FECD1" EXACT [] synonym: "Fuchs' dystrophy" EXACT [] xref: MESH:C535478 is_a: DOID:11555 ! Fuchs' endothelial dystrophy [Term] id: DOID:9000138 name: Whyte Murphy Syndrome synonym: "Osteopathia striata associated with familial dermopathy and white forelock" EXACT [] xref: MESH:C536054 is_a: DOID:0080001 ! bone disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:9000139 name: Superior Vena Cava Syndrome def: "A condition that occurs when the obstruction of the thin-walled SUPERIOR VENA CAVA interrupts blood flow from the head, upper extremities, and thorax to the RIGHT ATRIUM. Obstruction can be caused by NEOPLASMS; THROMBOSIS; ANEURYSM; or external compression. The syndrome is characterized by swelling and/or CYANOSIS of the face, neck, and upper arms." [MESH:D013479] synonym: "superior vena cava obstruction" EXACT [] synonym: "superior vena cava thrombosis" EXACT [] xref: EFO:1001855 xref: MESH:D013479 is_a: DOID:178 ! vascular disease is_a: DOID:225 ! syndrome [Term] id: DOID:9000140 name: Supraglottitis def: "Inflammation of the EPIGLOTTIS and supraglottic structures including the PHARYNX; UVULA; base of tongue; and aryepiglottic folds. It is usually caused by HAEMOPHILUS INFLUENZAE in children but often by different organisms in adults." [MESH:D059525] synonym: "Supraglottitides" EXACT [] xref: MESH:D059525 is_a: DOID:786 ! laryngeal disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:9000141 name: Autosomal Dominant Intellectual Developmental Disorder 58 synonym: "Autosomal Dominant Mental Retardation 58" EXACT [] synonym: "MRD58" EXACT [] xref: MIM:618106 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: slaulede creation_date: 2018-10-11T11:54:35Z [Term] id: DOID:9000142 name: Dental Calculus def: "Abnormal concretion or calcified deposit that forms around the teeth or dental prostheses." [MESH:D003728] synonym: "Tartar" EXACT [] xref: MESH:D003728 is_a: DOID:9005602 ! Calculi is_a: DOID:9007861 ! Dental Deposits [Term] id: DOID:9000143 name: Deafness, Progressive High-Tone Neural xref: MESH:C562423 is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:9000144 name: Chronic Disease def: "Diseases which have one or more of the following characteristics: they are permanent, leave residual disability, are caused by nonreversible pathological alteration, require special training of the patient for rehabilitation, or may be expected to require a long period of supervision, observation, or care. (Dictionary of Health Services Management, 2d ed)" [MESH:D002908] synonym: "Chronically Ill" EXACT [] synonym: "Chronic Diseases" EXACT [] synonym: "Chronic Illness" EXACT [] synonym: "Chronic Illnesses" EXACT [] xref: EFO:0009714 xref: MESH:D002908 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9000145 name: IGF1R-RELATED DISORDER alt_id: MIM:270450 alt_id: RDO:0013649 synonym: "IGF1R-RELATED CONDITION" EXACT [] synonym: "IGF-I Resistance" EXACT [] synonym: "IGF-I RESISTANCE INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO, DUE TO INCREASED BINDING PROTEIN" RELATED [] synonym: "INSULIN-LIKE GROWTH FACTOR 1 RESISTANCE TO" RELATED [] synonym: "INSULIN-LIKE GROWTH FACTOR I RESISTANCE" EXACT [] synonym: "Insulin-Like Growth Factor I, Resistance To" RELATED [] synonym: "Somatomedin C, Resistance To" EXACT [] synonym: "Somatomedin, End-Organ Insensitivity To" EXACT [] xref: MESH:C564816 is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000146 name: Plaque, Atherosclerotic def: "Lesions formed within the walls of ARTERIES." [MESH:D058226] synonym: "Arterial Fatty Streak" EXACT [] synonym: "Arterial Fatty Streaks" EXACT [] synonym: "Atheroma" EXACT [] synonym: "Atheromas" EXACT [] synonym: "Atheromatous Plaques" EXACT [] synonym: "Atherosclerotic Plaques" EXACT [] synonym: "Fibroatheroma" EXACT [] synonym: "Fibroatheromas" EXACT [] synonym: "Fibroatheromatous Plaque" EXACT [] synonym: "Fibroatheromatous Plaques" EXACT [] xref: MESH:D058226 xref: RDO:0007814 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9000147 name: Acute Febrile Encephalopathy def: "Acute onset of fever accompanied by seizures, cerebral inflammation and a change in mental status (e.g., confusion, disorientation, and coma)." [MESH:D000071072] synonym: "Acute Encephalitis Syndrome" EXACT [] synonym: "Acute Encephalitis Syndromes" EXACT [] synonym: "Acute Febrile Encephalopathies" EXACT [] synonym: "Febrile Encephalopathies" EXACT [] synonym: "Febrile Encephalopathy" EXACT [] xref: MESH:D000071072 xref: RDO:0016074 is_a: DOID:936 ! brain disease [Term] id: DOID:9000148 name: Familial Hypersecretion of Adrenal Androgens alt_id: MIM:145295 xref: MESH:C536845 is_a: DOID:3947 ! adrenal gland hyperfunction [Term] id: DOID:9000149 name: Keratoderma-Ichthyosis-Deafness Syndrome, Autosomal Recessive def: "A disease characterized by severe palmoplantar keratoderma, mild generalized ichthyosis, and progressive sensorineural deafness. Caused by homozygous or compound heterozygous mutation in the VPS33B gene on chromosome 15q26." [MIM:620009] synonym: "KDIDAR" EXACT [] xref: MIM:620009 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1697 ! ichthyosis is_a: DOID:3390 ! palmoplantar keratosis created_by: mtutaj creation_date: 2022-08-22T09:36:45Z [Term] id: DOID:9000150 name: Glycogen Storage Disease IIIA alt_id: OMIA:001577 synonym: "GSD IIIA" EXACT [] xref: MESH:C566889 is_a: DOID:2748 ! glycogen storage disease III [Term] id: DOID:9000151 name: Parietal Foramina 3 alt_id: MIM:609566 synonym: "PFM3" EXACT [] xref: MESH:C563697 is_a: DOID:0060285 ! parietal foramina [Term] id: DOID:9000152 name: Braddock-Carey Syndrome 2 def: "Characterized by congenital thrombocytopenia, microcephaly, and facial dysmorphisms including Pierre-Robin sequence. Caused by homozygous mutation in the KIF15 gene on chromosome 3p21." [MIM:619981] synonym: "BRDCS2" EXACT [] xref: MIM:619981 is_a: DOID:9008270 ! Braddock Carey Syndrome created_by: mtutaj creation_date: 2022-08-01T08:52:27Z [Term] id: DOID:9000153 name: Non-AIDS-Related Kaposi Sarcoma xref: MESH:C554497 is_a: DOID:8632 ! Kaposi's sarcoma [Term] id: DOID:9000154 name: Major Affective Disorder 6 alt_id: MIM:611536 synonym: "MAFD6" EXACT [] xref: MESH:C567075 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:9000155 name: Burning Mouth Syndrome- Type 3 xref: MESH:C537413 xref: RDO:0003254 is_a: DOID:4331 ! burning mouth syndrome [Term] id: DOID:9000156 name: Metaplasia def: "A condition in which there is a change of one adult cell type to another similar adult cell type." [MESH:D008679] synonym: "Cervical Metaplasia" NARROW [] xref: EFO:1000168 xref: MESH:D008679 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9000157 name: Striae Distensae, Familial alt_id: MIM:185200 xref: MESH:C566104 is_a: DOID:9001224 ! Striae Distensae [Term] id: DOID:9000158 name: Spinal Epidural Hematoma def: "A rare epidural hematoma in the spinal epidural space, usually due to a vascular malformation (CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS) or TRAUMA. Spontaneous spinal epidural hematoma is a neurologic emergency due to a rapidly evolving compressive MYELOPATHY." [MESH:D046748] synonym: "Spinal Epidural Hematomas" EXACT [] synonym: "Spinal Epidural Hemorrhage" EXACT [] synonym: "Spinal Epidural Hemorrhages" EXACT [] xref: MESH:D046748 is_a: DOID:9006013 ! Hematoma [Term] id: DOID:9000159 name: Thumb Deformity and Alopecia alt_id: MIM:188150 xref: MESH:C566054 is_a: DOID:9003748 ! Thumb Deformity is_a: DOID:987 ! alopecia [Term] id: DOID:9000161 name: Autosomal Recessive Nonsyndromic Deafness 120 def: "A disease characterized by congenital or prelingual onset of severe to profound sensorineural hearing loss. Caused by homozygous mutation in the MINAR2 gene on chromosome 5q23." [MIM:620238] synonym: "autosomal recessive deafness 120" EXACT [] synonym: "DFNB120" EXACT [] xref: MIM:620238 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: mtutaj creation_date: 2023-02-06T13:38:25Z [Term] id: DOID:9000163 name: Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment alt_id: MIM:242530 xref: MESH:C536274 is_a: DOID:1059 ! intellectual disability is_a: DOID:1697 ! ichthyosis is_a: DOID:557 ! kidney disease is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9000164 name: Axial Osteosclerosis alt_id: MIM:166450 synonym: "osteomesopyknosis" EXACT [] xref: MESH:C537792 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:9000165 name: Neuromuscular Manifestations def: "Signs and symptoms associated with diseases of the muscle, neuromuscular junction, or peripheral nerves." [MESH:D020879] synonym: "Muscle Disease Manifestation" EXACT [] synonym: "Muscle Disease Manifestations" EXACT [] synonym: "Neuromuscular Manifestation" EXACT [] synonym: "Neuromuscular Signs and Symptoms" EXACT [] xref: MESH:D020879 is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9000166 name: Intrinsic Sleep Disorders def: "Dyssomnias (i.e., insomnias or hypersomnias) associated with dysfunction of internal sleep mechanisms or secondary to a sleep-related medical disorder (e.g., sleep apnea, post-traumatic sleep disorders, etc.). (From Thorpy, Sleep Disorders Medicine, 1994, p187)" [MESH:D020919] synonym: "Intrinsic Sleep Disorder" EXACT [] synonym: "Post-Traumatic Hypersomnia" EXACT [] synonym: "Posttraumatic Hypersomnia" EXACT [] synonym: "Posttraumatic Hypersomnias" EXACT [] synonym: "post-traumatic hypersomnias" EXACT [] synonym: "Sleep State Misperception" EXACT [] synonym: "sleep state misperceptions" EXACT [] xref: MESH:D020919 is_a: DOID:9002111 ! Dyssomnias [Term] id: DOID:9000169 name: Systemic Inflammatory Response Syndrome def: "A systemic inflammatory response to a variety of clinical insults, characterized by two or more of the following conditions: (1) fever >38 degrees C or HYPOTHERMIA <36 degrees C; (2) TACHYCARDIA >90 beat/minute; (3) tachypnea >24 breaths/minute; (4) LEUKOCYTOSIS >12,000 cells/cubic mm or 10% immature forms. While usually related to infection, SIRS can also be associated with noninfectious insults such as TRAUMA; BURNS; or PANCREATITIS. If infection is involved, a patient with SIRS is said to have SEPSIS." [MESH:D018746] synonym: "Sepsis Syndrome" EXACT [] synonym: "Sepsis Syndromes" EXACT [] xref: EFO:1001478 xref: MESH:D018746 is_a: DOID:225 ! syndrome is_a: DOID:9002549 ! Shock is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9000170 name: Ragweed Sensitivity xref: MESH:C566725 xref: MIM:179450 xref: MONDO:0008362 is_a: DOID:9002850 ! Immediate Hypersensitivity [Term] id: DOID:9000171 name: Yersinia enterocolitica infections def: "These are infections with bacteria of the species Yersinia enterocolitica." [EFO:0009424] synonym: "Yersinia enterocolitica infectious disease" EXACT [] xref: EFO:0009424 is_a: DOID:9003800 ! Yersinia Infections created_by: slaulede creation_date: 2022-10-06T10:15:30Z [Term] id: DOID:9000172 name: 17,20-Lyase Deficiency, Isolated def: "This disease involves decreased or absent activity of the enzyme 17-alpha-hydroxylase/17,20 lyase due to loss-of-function mutation(s) in the CYP17A1 gene. The clinical manifestations of the deficiency are dependent on whether one or both activities of the enzyme are affected, and may include hypertension due to reduced 17-hydroxylase activity and incomplete genital masculinization in 46,XY infants due to reduced 17,20 lyase activity." [] synonym: "17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Complete" NARROW [] synonym: "17-Alpha-Hydroxylase-17,20-Lyase Deficiency, Combined Partial" NARROW [] synonym: "combined partial 17-alpha-hydroxylase/17,20-lyase deficiency" NARROW [] xref: EFO:0009067 xref: MESH:C567076 is_a: DOID:9006683 ! Congenital Adrenal Hyperplasia, Type 5 [Term] id: DOID:9000173 name: Eye Burns def: "Injury to any part of the eye by extreme heat, chemical agents, or ultraviolet radiation." [MESH:D005126] synonym: "Eye Burn" EXACT [] xref: EFO:1001788 xref: MESH:D005126 xref: RDO:0005554 is_a: DOID:9006447 ! Eye Injuries is_a: DOID:9007730 ! Burns [Term] id: DOID:9000174 name: Becker Nevus Syndrome alt_id: MIM:604919 synonym: "BECKER NEVUS, ISOLATED" RELATED [] synonym: "BECKER NEVUS, ISOLATED, SOMATIC, MOSAIC" EXACT [] synonym: "BN" RELATED [] xref: MESH:C565735 is_a: DOID:225 ! syndrome is_a: DOID:9002969 ! Nevus is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9000175 name: Thoracomelic Dysplasia alt_id: MIM:273740 synonym: "thoraco-limb dysplasia" EXACT [] xref: MESH:C564773 is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9000177 name: Chudley-Mccullough syndrome alt_id: MIM:604213 synonym: "CMCS" EXACT [] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 82" EXACT [] synonym: "Deafness, bilateral sensorineural, and hydrocephalus due to foramen of monro obstruction" EXACT [] synonym: "Deafness, sensorineural, with partial agenesis of the corpus callosum and arachnoid cysts" EXACT [] synonym: "DFNB82" EXACT [] synonym: "GPSM2-RELATED DISORDERS" EXACT [] xref: MESH:C535459 xref: RDO:0000582 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9007612 ! Arachnoid Cysts [Term] id: DOID:9000178 name: Cystic Medial Necrosis of Aorta synonym: "Erdheim Cystic medial necrosis of aorta" EXACT [] xref: MESH:C536230 is_a: DOID:14004 ! thoracic aortic aneurysm is_a: DOID:9007583 ! Cysts [Term] id: DOID:9000179 name: Infantile Hypertrophic Pyloric Stenosis 5 alt_id: MIM:612525 synonym: "IHPS5" EXACT [] xref: MESH:C567283 is_a: DOID:12638 ! hypertrophic pyloric stenosis [Term] id: DOID:9000180 name: Compassion Fatigue def: "Stress response that occurs in individuals working in care giving professions." [MESH:D000068376] synonym: "Secondary Trauma" EXACT [] synonym: "Secondary Traumas" EXACT [] synonym: "Secondary Traumatic Stress" EXACT [] synonym: "Secondary Traumatization" EXACT [] synonym: "Secondary Traumatizations" EXACT [] synonym: "Stresses, Secondary Traumatic" EXACT [] synonym: "Vicarious Trauma" EXACT [] synonym: "Vicarious Traumas" EXACT [] synonym: "Vicarious Traumatization" EXACT [] xref: MESH:D000068376 is_a: DOID:9000601 ! Mental Fatigue [Term] id: DOID:9000183 name: Familial Eosinophilia alt_id: MIM:131400 alt_id: RDO:0012312 synonym: "EOS" EXACT [] xref: MESH:C562722 is_a: DOID:9001371 ! Eosinophilia [Term] id: DOID:9000184 name: Ventricular Fibrillation alt_id: MIM:613601 def: "A potentially lethal cardiac arrhythmia that is characterized by uncoordinated extremely rapid firing of electrical impulses (400-600/min) in HEART VENTRICLES. Such asynchronous ventricular quivering or fibrillation prevents any effective cardiac output and results in unconsciousness (SYNCOPE). It is one of the major electrocardiographic patterns seen with CARDIAC ARREST." [MESH:D014693] synonym: "Early repolarization associated with ventricular fibrillation" RELATED [] synonym: "Ventricular Fibrillations" EXACT [] xref: EFO:0004287 xref: MESH:D014693 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9000185 name: Coumarin Sensitivity xref: MESH:C567276 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9000186 name: Ossified Ear Cartilages alt_id: MIM:165670 xref: MESH:C563488 is_a: DOID:182 ! calcinosis [Term] id: DOID:9000187 name: Spastic Ataxia 9, Autosomal Recessive synonym: "SPAX9" EXACT [] xref: MIM:618438 is_a: DOID:0050952 ! spastic ataxia created_by: mtutaj creation_date: 2019-06-25T13:09:08Z [Term] id: DOID:9000188 name: HYPERMETABOLISM DUE TO UNCOUPLED MITOCHONDRIAL OXIDATIVE PHOSPHORYLATION 2 def: "A disease characterized by failure to thrive apparent in infancy despite adequate caloric intake. Caused by heterozygous mutation in the ATP5F1B gene on chromosome 12q13." [] synonym: "HUMOP2" EXACT [] synonym: "HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIAL COUPLING" BROAD [] xref: MIM:620085 xref: MONDO:0859302 is_a: DOID:700 ! mitochondrial metabolism disease created_by: mtutaj creation_date: 2022-11-14T11:54:04Z [Term] id: DOID:9000189 name: Fallopian Tube Neoplasms alt_id: RDO:0002829 def: "Benign or malignant neoplasms of the FALLOPIAN TUBES. They are uncommon. If they develop, they may be located in the wall or within the lumen as a growth attached to the wall by a stalk." [MESH:D005185] synonym: "Fallopian Tube Neoplasm" EXACT [] xref: MESH:D005185 is_a: DOID:1962 ! fallopian tube disease is_a: DOID:9007399 ! Female Genital Neoplasms [Term] id: DOID:9000190 name: Hypophosphatemic Bone Disease alt_id: MIM:146350 synonym: "HBD" EXACT [] xref: MESH:C564145 xref: RDO:0013199 is_a: DOID:0050336 ! hypophosphatemia is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:9000191 name: Pseudophakia def: "Presence of an intraocular lens after cataract extraction." [MESH:D019591] xref: MESH:D019591 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9000192 name: infectious colitis def: "This disease is a viral or bacterial infectious process affecting the large intestine." [NCI:C78359] xref: EFO:1000035 is_a: DOID:0060180 ! colitis created_by: slaulede creation_date: 2022-10-25T14:04:08Z [Term] id: DOID:9000193 name: Short Stature and Facioauriculothoracic Malformations alt_id: MIM:609654 xref: MESH:C566457 is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000194 name: Cold Hypersensitivity xref: MESH:C569627 is_a: DOID:9008464 ! Cryopyrin-Associated Periodic Syndromes [Term] id: DOID:9000195 name: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism alt_id: MIM:601552 def: "Traboulsi syndrome is characterized by dislocated crystalline lenses and anterior segment abnormalities in association with a distinctive facies involving flat cheeks and a beaked nose. Some affected individuals develop highly unusual nontraumatic conjunctival cysts (filtering blebs), presumably caused by abnormal thinning of the sclera. FDLAB is caused by homozygous mutation in the ASPH gene on chromosome 8q12. (OMIM)" [] synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" EXACT [] synonym: "FDLAB" EXACT [] synonym: "SHAWAF-TRABOULSI SYNDROME" EXACT [] synonym: "Traboulsi syndrome" EXACT [] xref: MESH:C563293 is_a: DOID:9004201 ! Ectopia Lentis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000196 name: Fibular Aplasia Ectrodactyly alt_id: MIM:113310 synonym: "Brachydactyly-ectrodactyly with fibular aplasia or hypoplasia" EXACT [] xref: MESH:C537930 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:9000197 name: Edema def: "Abnormal fluid accumulation in TISSUES or body cavities. Most cases of edema are present under the SKIN in SUBCUTANEOUS TISSUE." [MESH:D004487] synonym: "Anasarca" EXACT [] synonym: "Dropsy" EXACT [] synonym: "Hydrops" EXACT [] xref: EFO:0009373 xref: MESH:D004487 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9000198 name: Erythrokeratodermia Variabilis et Progressiva 7 def: "A palmoplantar keratoderma that extends to the dorsal surface of the hands and feet (transgrediens), as well as erythematous annular skin lesions, caused by homozygous mutation in the PERP gene on chromosome 6q23. (OMIM)" [] synonym: "EKVP7" EXACT [] xref: MIM:619209 is_a: DOID:0050467 ! erythrokeratodermia variabilis created_by: mtutaj creation_date: 2021-03-01T14:36:35Z [Term] id: DOID:9000200 name: Leber Hereditary Optic Neuropathy, Autosomal Recessive 2 def: "A disease characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients. Caused by compound heterozygous mutation in the NDUFS2 gene on chromosome 1q23." [MIM:620569] synonym: "LHONAR2" EXACT [] xref: MIM:620569 is_a: DOID:705 ! Leber hereditary optic neuropathy created_by: tutajm creation_date: 2023-11-10T14:47:25Z [Term] id: DOID:9000201 name: Yim Ebbin Syndrome alt_id: MIM:601357 synonym: "ACLH" EXACT [] synonym: "Amelia, cleft lip, palate, hydrocephalus, iris coloboma" EXACT [] synonym: "brachial amelia, cleft lip, and holoprosencephaly" EXACT [] synonym: "Brachial amelia, forebrain defects and facial clefts" EXACT [] xref: MESH:C536713 is_a: DOID:10908 ! hydrocephalus is_a: DOID:12270 ! coloboma is_a: DOID:674 ! cleft palate is_a: DOID:9000545 ! Ectromelia is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:9000203 name: Wyburn Mason's Syndrome synonym: "Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes" EXACT [] synonym: "Wyburn Mason syndrome" EXACT [] xref: MESH:C536752 xref: RDO:0002431 is_a: DOID:225 ! syndrome is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9005605 ! Arteriovenous Fistula [Term] id: DOID:9000204 name: Platelet-Activating Factor Acetylhydrolase Deficiency alt_id: MIM:614278 synonym: "PAFAD" EXACT [] xref: MESH:C566640 xref: RDO:0014946 is_a: DOID:2841 ! asthma [Term] id: DOID:9000206 name: Subcutaneous Emphysema def: "Presence of air or gas in the subcutaneous tissues of the body." [MESH:D013352] synonym: "Subcutaneous Emphysemas" EXACT [] xref: MESH:D013352 xref: RDO:0006636 is_a: DOID:9002884 ! Emphysema [Term] id: DOID:9000207 name: Pelvic Floor Disorders def: "Injury, weakening, or PROLAPSE of the pelvic muscles, surrounding connective tissues or ligaments (PELVIC FLOOR)." [MESH:D059952] synonym: "Pelvic Floor Disease" EXACT [] synonym: "Pelvic Floor Diseases" EXACT [] synonym: "Pelvic Floor Disorder" EXACT [] xref: MESH:D059952 is_a: DOID:9004702 ! Pregnancy Complications is_a: DOID:9009146 ! Urogenital Diseases [Term] id: DOID:9000208 name: Auriculocondylar Syndrome synonym: "auriculo-condylar syndrome" EXACT [] synonym: "ears prominent and constricted" EXACT [] synonym: "Question mark ear" EXACT [] synonym: "Question Mark Ears Syndrome" EXACT [] synonym: "Question-Mark Ear Syndrome" EXACT [] xref: MESH:C538270 xref: MIM:PS602483 is_a: DOID:225 ! syndrome is_a: DOID:2742 ! auditory system disease created_by: mtutaj creation_date: 2019-03-21T00:00:00Z [Term] id: DOID:9000209 name: frontal fibrosing alopecia def: "This disease is a lichenoid and scarring inflammatory skin disorder associated with widespread cutaneous inflammation and irreversible hair loss, which occurs predominantly in women of post-menopausal age." [EFO:0009855] xref: EFO:0009855 is_a: DOID:9006744 ! Familial Lichen Planus is_a: DOID:987 ! alopecia created_by: slaulede creation_date: 2022-12-08T14:02:17Z [Term] id: DOID:9000210 name: Neurofibromatosis Type 5 synonym: "Neurofibromatosis type V" EXACT [] synonym: "Segmental neurofibromatosis" EXACT [] xref: MESH:C537390 xref: RDO:0003228 is_a: DOID:8712 ! neurofibromatosis [Term] id: DOID:9000211 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, SEIZURES, AND ABSENT LANGUAGE synonym: "HECW2-RELATED CONDITION" EXACT [] synonym: "HECW2-RELATED DISORDER" EXACT [] synonym: "NDHSAL" EXACT [] xref: MIM:617268 xref: RDO:9001505 is_a: DOID:11832 ! visual epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:9000212 name: Hereditary Pyropoikilocytosis synonym: "HPP" EXACT [] xref: GARD:4619 xref: MESH:C563004 xref: MIM:266140 xref: MONDO:0009948 xref: ORDO:98867 is_a: DOID:2373 ! hereditary elliptocytosis [Term] id: DOID:9000213 name: Chromosome 15q14 Deletion Syndrome xref: MIM:616898 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: mtutaj creation_date: 2020-07-09T11:02:44Z [Term] id: DOID:9000214 name: Myopia 7 alt_id: MIM:609256 synonym: "MYP7" EXACT [] xref: MESH:C563761 is_a: DOID:11830 ! myopia [Term] id: DOID:9000216 name: Chromosome 12p Deletion synonym: "Deletion 12p" EXACT [] synonym: "Monosomy 12p" EXACT [] xref: MESH:C538301 xref: MONDO:0022174 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9000217 name: Stomach Neoplasms def: "Tumors or cancer of the STOMACH." [] synonym: "Gastric Metaplasia" NARROW [] synonym: "gastric neoplasm" EXACT [] synonym: "gastric neoplasms" EXACT [] synonym: "HDGC" NARROW [] synonym: "neoplasm of stomach" EXACT [] synonym: "stomach neoplasm" EXACT [] xref: EFO:0003897 xref: EFO:1000273 xref: MESH:D013274 is_a: DOID:76 ! stomach disease is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:9000218 name: Craniosynostosis with Ectopia Lentis alt_id: MIM:603595 xref: MESH:C566357 is_a: DOID:2340 ! craniosynostosis is_a: DOID:9004201 ! Ectopia Lentis [Term] id: DOID:9000219 name: Carney Complex Variant alt_id: MIM:608837 alt_id: RDO:0012999 synonym: "MYH8-RELATED CONDITION" BROAD [] xref: MESH:C563845 is_a: DOID:0050471 ! Carney complex [Term] id: DOID:9000220 name: Coxsackievirus Infections alt_id: MIM:120050 def: "A heterogeneous group of infections produced by coxsackieviruses, including HERPANGINA, aseptic meningitis (MENINGITIS, ASEPTIC), a common-cold-like syndrome, a non-paralytic poliomyelitis-like syndrome, epidemic pleurodynia (PLEURODYNIA, EPIDEMIC) and a serious MYOCARDITIS." [MESH:D003384] synonym: "CB3S" RELATED [] synonym: "Coxsackievirus B3 Susceptibility" RELATED [] synonym: "Coxsackie Virus Infection" EXACT [] synonym: "Coxsackievirus Infection" EXACT [] synonym: "Coxsackie Virus Infections" EXACT [] synonym: "CXB3S" RELATED [] xref: EFO:0007226 xref: MESH:D003384 is_a: DOID:9006549 ! Enterovirus Infections [Term] id: DOID:9000221 name: Epiblepharon of Upper Lid alt_id: MIM:131450 alt_id: MIM:131460 synonym: "Epiblepharon of Lower Lid" EXACT [] xref: MESH:C565051 is_a: DOID:530 ! eyelid disease [Term] id: DOID:9000222 name: Cerebellar Degeneration-Related Autoantigen 3 synonym: "CDR3" EXACT [] xref: MIM:602197 xref: RDO:0008857 is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:9000223 name: Beta-Ureidopropionase Deficiency alt_id: MIM:613161 synonym: "UPB1D" EXACT [] xref: MESH:C563210 is_a: DOID:480 ! movement disease is_a: DOID:653 ! purine-pyrimidine metabolic disorder is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:936 ! brain disease [Term] id: DOID:9000224 name: Laboratory Infection def: "Accidentally acquired infection in laboratory workers." [MESH:D007757] synonym: "Laboratory Infections" EXACT [] xref: MESH:D007757 is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:9000225 name: Hypotrichosis and Recurrent Skin Vesicles alt_id: MIM:613102 synonym: "HYPTSV" EXACT [] xref: MESH:C567751 is_a: DOID:4535 ! hypotrichosis is_a: DOID:9008110 ! Blister [Term] id: DOID:9000226 name: Periodontal Cyst def: "An epithelium-lined sac containing fluid; usually found at the apex of a pulp-involved tooth. The lateral type occurs less frequently along the side of the root." [MESH:D010509] synonym: "Dental Root Cyst" EXACT [] synonym: "Dental Root Cysts" EXACT [] synonym: "Dentoalveolar Cyst" EXACT [] synonym: "Dentoalveolar Cysts" EXACT [] synonym: "Lateral Cyst" EXACT [] synonym: "Lateral Cysts" EXACT [] synonym: "Periodontal Cysts" EXACT [] xref: MESH:D010509 is_a: DOID:3388 ! periodontal disease is_a: DOID:9002504 ! Odontogenic Cysts [Term] id: DOID:9000227 name: Hypogonadism and Testicular Atrophy synonym: "TESTICULAR ATROPHY" NARROW [] xref: MESH:C567108 is_a: DOID:1924 ! hypogonadism [Term] id: DOID:9000229 name: Leigh Syndrome due to Mitochondrial Complex V Deficiency xref: MESH:C564964 is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9000230 name: Hyper-IgE Recurrent Infection Syndrome 5 def: "A hyper IgE syndrome that has_material_basis_in homozygous mutation in the IL6R gene on chromosome 1q21. (OMIM)" [] synonym: "autosomal recessive hyper-IgE recurrent infection syndrome-5" EXACT [] synonym: "HIES5" EXACT [] synonym: "Hyper-IgE syndrome 5, autosomal recessive, with recurrent infections" EXACT [] xref: MIM:618944 is_a: DOID:0080545 ! hyper IgE syndrome created_by: mtutaj creation_date: 2020-07-22T09:23:14Z [Term] id: DOID:9000231 name: plaque psoriasis def: "This is is the most common presentation of psoriasis. It presents as small to large, well demarcated, red, scaly and thickened areas of skin. It most likely to affect elbows, knees, and lower back but may arise on any part of the body." [EFO:1001494] synonym: "psoriasis vulgaris" EXACT [] is_a: DOID:8893 ! psoriasis created_by: slaulede creation_date: 2023-02-03T15:54:10Z [Term] id: DOID:9000232 name: Conjugated Hyperbilirubinemia Type III alt_id: MIM:237550 xref: MESH:C562885 is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia [Term] id: DOID:9000233 name: PARKINSONISM WITH POLYNEUROPATHY def: "This disease is an autosomal dominant disorder characterized by asymmetrical tremor-dependent parkinsonism. The age of onset ranges from the late forties to mid-sixties, and patients have a good response to levodopa." [MIM:619279] synonym: "PKNPY" EXACT [] xref: MIM:619279 xref: NCI:C201521 is_a: DOID:0080855 ! Parkinsonism is_a: DOID:1389 ! polyneuropathy created_by: slaulede creation_date: 2021-05-14T11:08:58Z [Term] id: DOID:9000234 name: Familial Atrial Fibrillation 15 synonym: "ATFB15" EXACT [] synonym: "ATRIAL FIBRILLATION 15" EXACT [] xref: MIM:615770 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9000235 name: Malignant Hemangiopericytoma alt_id: MIM:234820 xref: MESH:C562740 is_a: DOID:264 ! hemangiopericytoma [Term] id: DOID:9000236 name: Persistent Hyperplastic Primary Vitreous, Autosomal Dominant synonym: "PHPVAD" EXACT [] xref: MIM:611308 is_a: DOID:0060282 ! persistent hyperplastic primary vitreous is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2019-03-19T00:00:00Z [Term] id: DOID:9000238 name: Acute-On-Chronic Liver Failure def: "Sudden liver failure in the presence of underlying compensated chronic LIVER DISEASE (e.g., LIVER CIRRHOSIS; HEPATITIS; and liver injury and failure) due to a precipitating acute hepatic insult." [MESH:D065290] synonym: "Acute On Chronic Liver Failure (ACLF)" EXACT [] synonym: "Acute-On-Chronic Liver Failures" EXACT [] synonym: "Acute-On-Chronic Liver Failures (ACLF)" EXACT [] xref: EFO:0007949 xref: MESH:D065290 xref: RDO:0015968 is_a: DOID:9004590 ! Acute Liver Failure [Term] id: DOID:9000239 name: Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements def: "Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate. NEDISHM is caused by homozygous or compound heterozygous mutation in the ZNF142 gene on chromosome 2q35. (OMIM)" [] synonym: "NEDISHM" EXACT [] xref: MIM:618425 is_a: DOID:9002362 ! Hyperkinesis is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:92 ! speech disorder created_by: gthayman creation_date: 2019-06-11T16:02:53Z [Term] id: DOID:9000240 name: T-Cell Immunodeficiency, Recurrent Infections, and Autoimmunity with or without Cardiac Malformations synonym: "MST1 DEFICIENCY" EXACT [] synonym: "STK4 DEFICIENCY" EXACT [] synonym: "TIIAC" EXACT [] xref: MIM:614868 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:9000241 name: Contrecoup Injury def: "An injury in which the damage is located on the opposite side of the primary impact site. A blow to the back of head which results in contrecoup injury to the frontal lobes of the brain is the most common type." [MESH:D056886] synonym: "Contre-coup Injuries" EXACT [] synonym: "Contrecoup Injuries" EXACT [] synonym: "Contre coup Injury" EXACT [] xref: MESH:D056886 xref: RDO:0007766 is_a: DOID:9001600 ! Wounds and Injuries is_a: DOID:9008967 ! Brain Concussion [Term] id: DOID:9000242 name: Lymphoma, AIDS-Related def: "B-cell lymphoid tumors that occur in association with AIDS. Patients often present with an advanced stage of disease and highly malignant subtypes including BURKITT LYMPHOMA; IMMUNOBLASTIC LARGE-CELL LYMPHOMA; PRIMARY EFFUSION LYMPHOMA; and DIFFUSE, LARGE B-CELL, LYMPHOMA. The tumors are often disseminated in unusual extranodal sites and chromosomal abnormalities are frequently present. It is likely that polyclonal B-cell lymphoproliferation in AIDS is a complex result of EBV infection, HIV antigenic stimulation, and T-cell-dependent HIV activation." [MESH:D016483] synonym: "AIDS Associated Lymphoma" EXACT [] synonym: "AIDS-Associated Lymphomas" EXACT [] synonym: "AIDS-Related Lymphomas" EXACT [] synonym: "AIDS-Related Primary Central Nervous System Lymphoma" NARROW [] synonym: "HIV Related Lymphoma" EXACT [] synonym: "HIV-Related Lymphomas" EXACT [] xref: EFO:1000077 xref: EFO:1001365 xref: MESH:D016483 xref: RDO:0006960 is_a: DOID:707 ! B-cell lymphoma [Term] id: DOID:9000243 name: cardioembolic stroke def: "This is a pathological condition caused by the blockage of blood flow in a brain vessel through a clot or other foreign matters pumped from the heart to the brain." [EFO:1001976] xref: EFO:1001976 is_a: DOID:9007096 ! Stroke created_by: slaulede creation_date: 2023-01-06T10:54:24Z [Term] id: DOID:9000244 name: Ectodermal Dysplasia-Syndactyly Syndrome xref: MIM:PS613573 is_a: DOID:11193 ! syndactyly is_a: DOID:2121 ! ectodermal dysplasia created_by: mtutaj creation_date: 2019-03-26T12:35:29Z [Term] id: DOID:9000245 name: Systolic Murmurs def: "Heart murmurs which are systolic in timing. They occur between the first and the second HEART SOUNDS, between the closure of MITRAL VALVE and TRICUSPID VALVE and the closure of semilunar aortic and pulmonary valves. Systolic murmurs include ejection murmurs and regurgitant murmurs." [MESH:D054160] synonym: "Ejection Murmur" EXACT [] synonym: "Ejection Murmurs" EXACT [] synonym: "Systolic Murmur" EXACT [] synonym: "Systolic Regurgitant Murmur" EXACT [] synonym: "Systolic Regurgitant Murmurs" EXACT [] xref: MESH:D054160 is_a: DOID:9002134 ! Heart Murmurs [Term] id: DOID:9000246 name: Joint Loose Bodies def: "Fibrous, bony, cartilaginous and osteocartilaginous fragments in a synovial joint. Major causes are osteochondritis dissecans, synovial chondromatosis, osteophytes, fractured articular surfaces and damaged menisci." [MESH:D007594] synonym: "Joint Loose Body" EXACT [] xref: MESH:D007594 xref: RDO:0005925 is_a: DOID:381 ! arthropathy [Term] id: DOID:9000247 name: Panic Disorder with Joint Laxity xref: MESH:C566835 is_a: DOID:594 ! panic disorder is_a: DOID:9005077 ! Joint Instability [Term] id: DOID:9000248 name: Nephropathy, Deafness, and Hyperparathyroidism alt_id: MIM:256120 synonym: "Nephropathy-Deafness-Hyperparathyroidism" EXACT [] xref: MESH:C536401 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:13543 ! hyperparathyroidism is_a: DOID:783 ! end stage renal disease [Term] id: DOID:9000249 name: Oculorenocerebellar Syndrome alt_id: MIM:257970 xref: MESH:C537739 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9000250 name: Cardioacrofacial Dysplasia xref: MIM:PS619142 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9001487 ! Facies is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-01-04T16:52:35Z [Term] id: DOID:9000251 name: DNA Virus Infections def: "Diseases caused by DNA VIRUSES." [MESH:D004266] synonym: "DNA Virus Infection" EXACT [] xref: MESH:D004266 xref: RDO:0004744 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9000252 name: Allergic Rhinoconjunctivitis def: "Conjunctivitis and rhinitis due to hypersensitivity to various allergens." [] is_a: DOID:11204 ! allergic conjunctivitis is_a: DOID:4481 ! allergic rhinitis [Term] id: DOID:9000253 name: Bazopoulou Kyrkanidou Syndrome xref: MESH:C537664 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:9001788 ! Gingival Hemorrhage [Term] id: DOID:9000254 name: Distal Hereditary Motor Neuropathy, Type II alt_id: RDO:0015879 xref: MESH:C580044 is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:9000255 name: Chromosomes 1 and 2, Monosomy 2q Duplication 1p synonym: "Deletion 2q duplication 1p" EXACT [] synonym: "Monosomy 2q duplication 1p" EXACT [] xref: MESH:C535455 xref: RDO:0000576 is_a: DOID:9007973 ! Genetic Translocation [Term] id: DOID:9000256 name: Duodenal Neoplasms alt_id: RDO:0005399 def: "Tumors or cancer of the DUODENUM." [MESH:D004379] synonym: "duodenal neoplasm" EXACT [] xref: MESH:D004379 is_a: DOID:4072 ! duodenum disease is_a: DOID:9002245 ! Intestinal Neoplasms [Term] id: DOID:9000257 name: Chromosome 8, Monosomy 8p23 1 synonym: "Deletion 8p23 1" EXACT [] synonym: "Monosomy 8p23 1" EXACT [] xref: MESH:C537827 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9000258 name: Aicardi-Goutieres Syndrome 4 synonym: "AGS4" EXACT [] synonym: "RNASEH2A-RELATED CONDITION" EXACT [] xref: MESH:C563681 xref: MIM:610333 xref: MONDO:0012472 is_a: DOID:0050629 ! Aicardi-Goutieres syndrome [Term] id: DOID:9000260 name: OSTEOCHONDRODYSPLASIA, COMPLEX LETHAL, SYMOENS-BARNES-GISTELINCK TYPE def: "A disease displaying severe skeletal osteopenia, microcephaly, multiple fractures, and congenital anomalies including ascites, pleural effusion, and intracranial ventriculomegaly. (OMIM)" [] synonym: "OCLSBG" EXACT [] synonym: "Symoens-Barnes-Gistelinck type of complex lethal osteochondrodysplasia" EXACT [] xref: MIM:616897 xref: RDO:9001172 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9000261 name: Pseudodiastrophic Dysplasia alt_id: MIM:264180 synonym: "pseudodiastrophic dwarfism" EXACT [] xref: MESH:C535826 is_a: DOID:0060321 ! umbilical hernia is_a: DOID:1682 ! congenital heart disease is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9000262 name: Distal Arthrogryposis, with Mental Retardation and Characteristic Facies alt_id: MIM:208081 xref: MESH:C565940 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies [Term] id: DOID:9000263 name: Mental Retardation Spasticity Ectrodactyly synonym: "Ectrodactyly, spastic paraplegia and mental retardation" EXACT [] synonym: "Jancar syndrome" EXACT [] synonym: "Mental retardation, spasticity and transverse limb defects" EXACT [] xref: MESH:C537446 xref: RDO:0003289 is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9000264 name: Hypercalcemia, Infantile, 2 synonym: "HCINF2" EXACT [] xref: MIM:616963 is_a: DOID:9005216 ! Infantile Hypercalcemia created_by: rgd creation_date: 2016-06-13T00:00:00Z [Term] id: DOID:9000265 name: Specific Granule Deficiency synonym: "Lactoferrin-Deficient Neutrophils" EXACT [] synonym: "Neutrophil Lactoferrin Deficiency" EXACT [] xref: MESH:C562873 xref: MIM:PS245480 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9000266 name: Lutz Richner Landolt Syndrome alt_id: MIM:210550 synonym: "Biliary malformation with renal tubular insufficiency" EXACT [] synonym: "Cholestatic jaundice and renal tubular insufficiency" EXACT [] synonym: "Renal tubular insufficiency, cholestatic jaundice, and multiple congenital anomalies" EXACT [] xref: MESH:C537726 is_a: DOID:1074 ! kidney failure is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome is_a: DOID:9004898 ! Jaundice is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000267 name: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA synonym: "LADCI" EXACT [] xref: MIM:617182 is_a: DOID:1094 ! attention deficit hyperactivity disorder is_a: DOID:1561 ! cognitive disorder is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9005466 ! Language Development Disorders [Term] id: DOID:9000268 name: Robinson Miller Bensimon Syndrome synonym: "Deafness and onychodystrophy, dominant form" EXACT [] xref: MESH:C535864 xref: RDO:0001205 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:9000269 name: Epithelioid Hemangioendothelioma alt_id: RDO:0007183 def: "A tumor of medium-to-large veins, composed of plump-to-spindled endothelial cells that bulge into vascular spaces in a tombstone-like fashion. These tumors are thought to have 'borderline' aggression, where one-third develop local recurrences, but only rarely metastasize. It is unclear whether the epithelioid hemangioendothelioma is truly neoplastic or an exuberant tissue reaction, nor is it clear if this is equivalent to Kimura's disease (see ANGIOLYMPHOID HYPERPLASIA WITH EOSINOPHILIA). (Segen, Dictionary of Modern Medicine, 1992)" [MESH:D018323] synonym: "Epithelioid Hemangioendotheliomas" EXACT [] xref: MESH:D018323 is_a: DOID:9000293 ! Hemangioendothelioma [Term] id: DOID:9000270 name: Congenital Central Hypoventilation Syndrome 1 synonym: "CCHS1" EXACT [] synonym: "CCHS with Hirschsprung disease" NARROW [] synonym: "congenital central hypoventilation syndrome 1 with or without Hirschsprung disease" EXACT [] synonym: "congenital central hypoventilation syndrome with Hirschsprung disease" NARROW [] synonym: "HADDAD SYNDROME" NARROW [] xref: MIM:209880 is_a: DOID:0060731 ! congenital central hypoventilation syndrome created_by: mtutaj creation_date: 2022-04-11T16:02:13Z [Term] id: DOID:9000271 name: Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation def: "An autosomal recessive neurodevelopmental disorder characterized by large head and somatic overgrowth apparent at birth followed by global developmental delay." [MIM:617011] synonym: "MDFPMR" EXACT [] xref: MIM:617011 is_a: DOID:9001487 ! Facies is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9000272 name: Periventricular Nodular Heterotopia, with Frontometaphyseal Dysplasia alt_id: RDO:0013590 xref: MESH:C564725 is_a: DOID:0050454 ! periventricular nodular heterotopia is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9000273 name: Carnevale Hernandez Castillo Syndrome synonym: "Triphalyngeal thumbs and brachyectrodactyly" EXACT [] xref: MESH:C535585 xref: RDO:0000797 is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9000274 name: Familial Acute Myeloid Leukemia with Mutated Cebpa synonym: "Cebpa-Dependent Familial Acute Myeloid Leukemia" EXACT [] synonym: "Familial Acute Myeloid Leukaemia" EXACT [] xref: MESH:C580075 xref: RDO:0015886 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:9000275 name: Acute Radiation Syndrome def: "A condition caused by a brief whole body exposure to more than one sievert dose equivalent of radiation. Acute radiation syndrome is initially characterized by ANOREXIA; NAUSEA; VOMITING; but can progress to hematological, gastrointestinal, neurological, pulmonary, and other major organ dysfunction." [MESH:D054508] synonym: "Acute Radiation Syndromes" EXACT [] xref: MESH:D054508 xref: RDO:0007678 is_a: DOID:225 ! syndrome is_a: DOID:9000111 ! Radiation Injuries [Term] id: DOID:9000276 name: Juvenile Amyotrophic Lateral Sclerosis def: "A degenerative disorder affecting upper MOTOR NEURONS in the brain and lower motor neurons in the brain stem and SPINAL CORD. Disease onset is usually before the age of 25. Clinical manifestations include progressive weakness, atrophy, FASCICULATION, hyperreflexia, DYSARTHRIA, dysphagia, and eventual paralysis of respiratory function. Pathologic features include the replacement of motor neurons with fibrous ASTROCYTES and atrophy of anterior SPINAL NERVE ROOTS and corticospinal tracts." [ISBN13:9780070005143] synonym: "ALSJ" EXACT [] synonym: "JALS" EXACT [] synonym: "juvenile ALS" EXACT [] is_a: DOID:332 ! amyotrophic lateral sclerosis created_by: slaulede creation_date: 2020-07-23T15:09:21Z [Term] id: DOID:9000277 name: Radiation-Induced Neoplasms def: "Tumors, cancer or other neoplasms produced by exposure to ionizing or non-ionizing radiation." [MESH:D009381] synonym: "Radiation Induced Cancer" EXACT [] synonym: "Radiation-Induced Cancers" EXACT [] synonym: "Radiation-Induced Neoplasm" EXACT [] xref: MESH:D009381 is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:9000111 ! Radiation Injuries [Term] id: DOID:9000278 name: Adult Parathyroid Cancer alt_id: RDO:0002958 synonym: "parathyroid carcinoma, adult" EXACT [] synonym: "parathyroid neoplasm, adult" EXACT [] xref: MESH:C537173 is_a: DOID:9007696 ! Parathyroid Cancer [Term] id: DOID:9000279 name: Congenital Progeroid Syndrome, Petty Type alt_id: MIM:612289 synonym: "CRANIOFACIAL DYSOSTOSIS, HYPERTRICHOSIS, HYPOPLASIA OF LABIA MAJORA, DENTAL AND EYE ANOMALIES, PATENT DUCTUS ARTERIOSUS, AND NORMAL INTELLIGENCE" EXACT [] synonym: "Fontaine progeroid syndrome" EXACT [] synonym: "FPS" EXACT [] synonym: "Gorlin-Chaudhry-Moss syndrome" EXACT [] xref: MESH:C567360 is_a: DOID:3911 ! progeria is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9000280 name: Ataxia-Telangiectasia Variant V2 xref: MESH:C565380 xref: RDO:0014031 is_a: DOID:12704 ! ataxia telangiectasia [Term] id: DOID:9000281 name: Parkinson's Disease 16 alt_id: MIM:613164 synonym: "PARK16" EXACT [] synonym: "Parkinson Disease 16" EXACT [] xref: MESH:C567726 is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:9000282 name: IMAGEI Syndrome synonym: "IMAGEI" EXACT [] synonym: "intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency" EXACT [] xref: MIM:618336 is_a: DOID:0050811 ! congenital adrenal hyperplasia is_a: DOID:0080019 ! metaphyseal dysplasia is_a: DOID:2914 ! immune system disease is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9002231 ! Fetal Growth Retardation created_by: mtutaj creation_date: 2019-02-22T00:00:00Z [Term] id: DOID:9000283 name: Islet Cell Adenoma def: "A benign tumor of the pancreatic ISLET CELLS. Usually it involves the INSULIN-producing PANCREATIC BETA CELLS, as in INSULINOMA, resulting in HYPERINSULINISM." [MESH:D007516] synonym: "islet cell adenomas" EXACT [] synonym: "nesidioblastoma" EXACT [] xref: MESH:D007516 xref: NCI:C34051 is_a: DOID:657 ! adenoma is_a: DOID:9009186 ! Pancreatic Benign Neoplasm [Term] id: DOID:9000284 name: X-linked Microhydranencephaly alt_id: MIM:306990 synonym: "Holoprosencephaly with Fetal Akinesia/Hypokinesia Sequence" EXACT [] synonym: "MHACX" EXACT [] xref: MESH:C564409 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9000285 name: Mucopolysaccharidosis VIII synonym: "Diferrante Syndrome" EXACT [] synonym: "Glucosamine-6-Sulfate Sulfatase Deficiency" EXACT [] synonym: "MPS VIII" EXACT [] synonym: "mucopolysaccharidosis type VIII" EXACT [] xref: MESH:C563094 is_a: DOID:12798 ! mucopolysaccharidosis [Term] id: DOID:9000286 name: Myopia 13 alt_id: MIM:300613 synonym: "MYOPIA 13, X-LINKED" EXACT [] synonym: "MYP13" EXACT [] xref: MESH:C564473 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11830 ! myopia [Term] id: DOID:9000287 name: Progressive Muscular Dystrophy, Pectorodorsal alt_id: MIM:310095 alt_id: RDO:0013168 synonym: "Muscular Dystrophy, Progressive, Involving Shoulder Girdle and Back" EXACT [] xref: MESH:C564095 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9000288 name: Chronic Intermittent Hypoxia def: "This condition involves repetitive cycles of hypoxia and normoxia, which resembles the fluctuation of oxygen saturation in obstructive sleep apnea." [] synonym: "CIH" EXACT [] is_a: DOID:9004756 ! Brain Hypoxia [Term] id: DOID:9000289 name: DEVELOPMENTAL DELAY WITH DYSMORPHIC FACIES AND DENTAL ANOMALIES def: "A disease characterized by generally mild global developmental delay with variably impaired intellectual development, walking by 2 to 3 years, and slow language acquisition." [MIM:619228] synonym: "DEFDA" EXACT [] synonym: "SATB1-RELATED CONDITION" BROAD [] xref: MIM:619228 is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9009007 ! Tooth Abnormalities created_by: slaulede creation_date: 2021-04-08T11:14:32Z [Term] id: DOID:9000290 name: Stargardt Disease 3 alt_id: MIM:600110 synonym: "Macular dystrophy, autosomal dominant, chromosome 6-linked," EXACT [] synonym: "Macular dystrophy with flecks, type 3" EXACT [] synonym: "STARGARDT DISEASE, DOMINANT" BROAD [] synonym: "Stargardt-Like Macular Dystrophy, Autosomal Dominant" EXACT [] synonym: "STGD3" EXACT [] xref: MESH:C535805 is_a: DOID:0050817 ! Stargardt disease [Term] id: DOID:9000291 name: Athletic Injuries def: "Injuries incurred during participation in competitive or non-competitive sports." [MESH:D001265] synonym: "Athletic Injury" EXACT [] synonym: "Sports Injuries" EXACT [] synonym: "Sports Injury" EXACT [] xref: MESH:D001265 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9000292 name: Respiratory Paralysis def: "Complete or severe weakness of the muscles of respiration. This condition may be associated with MOTOR NEURON DISEASES; PERIPHERAL NERVE DISEASES; NEUROMUSCULAR JUNCTION DISEASES; SPINAL CORD DISEASES; injury to the PHRENIC NERVE; and other disorders." [MESH:D012133] synonym: "Diaphragmatic Paralysis" EXACT [] synonym: "Muscle Paralyses, Respiratory" EXACT [] synonym: "Respiratory Muscle Paralysis" EXACT [] xref: EFO:1001840 xref: MESH:D012133 is_a: DOID:11162 ! respiratory failure is_a: DOID:9005246 ! Paralysis [Term] id: DOID:9000293 name: Hemangioendothelioma def: "A neoplasm derived from blood vessels, characterized by numerous prominent endothelial cells that occur singly, in aggregates, and as the lining of congeries of vascular tubes or channels. Hemangioendotheliomas are relatively rare and are of intermediate malignancy (between benign hemangiomas and conventional angiosarcomas). They affect men and women about equally and rarely develop in childhood. (From Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1866)" [MESH:D006390] synonym: "Hemangio Endothelioma" EXACT [] synonym: "Hemangio-Endotheliomas" EXACT [] synonym: "Hemangioendotheliomas" EXACT [] synonym: "Vascular Endothelioma" EXACT [] synonym: "Vascular Endotheliomas" EXACT [] xref: MESH:D006390 xref: RDO:0000320 is_a: DOID:255 ! hemangioma [Term] id: DOID:9000294 name: Trichilemmoma def: "A benign tumour originating from the outer root sheath of the hair follicle. (HPO)" [] synonym: "Tricholemmoma" EXACT [] xref: NCI:C4113 is_a: DOID:5375 ! hair follicle neoplasm created_by: rgd creation_date: 2017-02-03T00:00:00Z [Term] id: DOID:9000295 name: Ring Chromosome 14 Syndrome alt_id: MIM:616606 synonym: "Chromosome 14 ring" EXACT [] synonym: "Ring 14" EXACT [] synonym: "Ring 14 Syndrome" EXACT [] xref: MESH:C535487 xref: NCI:C185638 is_a: DOID:225 ! syndrome is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9000296 name: Immunodeficiency 96 def: "An autosomal recessive disorder characterized by onset of recurrent, usually viral, respiratory infections in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the LIG1 gene on chromosome 19q13." [MIM:619774] synonym: "IMD96" EXACT [] xref: MIM:619774 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2022-03-08T11:24:31Z [Term] id: DOID:9000297 name: Jequier Kozlowski Skeletal Dysplasia synonym: "Cloverleaf skull and bone dysplasias" EXACT [] synonym: "Facies unusual arthrogryposis advanced skeletal maturation" EXACT [] synonym: "Round face, short small nose, advanced bone age, enlarged diaphysis" EXACT [] xref: MESH:C537569 xref: RDO:0003432 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000298 name: Pathological Conditions, Signs and Symptoms def: "Abnormal anatomical or physiological conditions and objective or subjective manifestations of disease, not classified as disease or syndrome." [MESH:D013568] subset: RGD_JBrowse_slim synonym: "symptoms and general pathology" EXACT [] xref: MESH:D013568 is_a: DOID:4 ! disease [Term] id: DOID:9000299 name: cardiac amyloidosis def: "This is a disease in which cardiac tissue is infiltrated by amyloid fibrils. Patients with cardiac amyloidosis commonly develop diastolic and systolic dysfunction, progressive heart failure (HF), arrhythmias, and symptoms of orthostatic hypotension." [PMID:28279425] synonym: "amyloid cardiomyopathy" EXACT [] synonym: "amyloid heart disease" EXACT [] synonym: "amyloid heart muscle disease" EXACT [] synonym: "amyloidosis of heart" EXACT [] synonym: "senile cardiac amyloidosis" EXACT [] xref: EFO:1001984 xref: HP:0030843 xref: MP:0021148 is_a: DOID:9120 ! amyloidosis created_by: slaulede creation_date: 2022-12-05T15:38:46Z [Term] id: DOID:9000300 name: Refractory Anemia alt_id: RDO:0004835 def: "A severe sometimes chronic anemia, usually macrocytic in type, that does not respond to ordinary antianemic therapy." [MESH:D000753] synonym: "Refractory Anemias" EXACT [] xref: EFO:0003802 xref: MESH:D000753 xref: NCI:C2872 is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:2355 ! anemia [Term] id: DOID:9000301 name: Myotubular Myopathy with Abnormal Genital Development alt_id: MIM:300219 xref: MESH:C564561 is_a: DOID:422 ! congenital structural myopathy is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9000303 name: Familial Restrictive Cardiomyopathy 6 def: "Characterized by prenatal onset of severe restrictive cardiomyopathy predominantly involving the right ventricle, resulting in irreversible heart failure and early death. Caused by compound heterozygous mutation in the KIF20A gene on chromosome 5q31. (OMIM)" [] synonym: "RCM6" EXACT [] xref: MIM:619433 is_a: DOID:397 ! restrictive cardiomyopathy created_by: mtutaj creation_date: 2021-07-16T16:16:52Z [Term] id: DOID:9000304 name: Manganese Poisoning def: "Manganese poisoning is associated with chronic inhalation of manganese particles by individuals who work with manganese ore. Clinical features include CONFUSION; HALLUCINATIONS; and an extrapyramidal syndrome (PARKINSON'S DISEASE, SECONDARY) that includes rigidity; DYSTONIA; retropulsion; and TREMOR. (Adams, Principles of Neurology, 6th ed, p1213)" [MESH:D020149] synonym: "Manganese Neurotoxicity Syndrome" EXACT [] synonym: "Manganese Neurotoxicity Syndromes" EXACT [] synonym: "Nervous System Diseases, Manganese Induced" EXACT [] synonym: "Nervous System Poisoning, Manganese" EXACT [] xref: EFO:1001808 xref: MESH:D020149 xref: RDO:0007318 is_a: DOID:9000046 ! Poisoning is_a: DOID:9001363 ! Heavy Metal Poisoning, Nervous System [Term] id: DOID:9000305 name: LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS def: "This disease is an autosomal recessive complex neurodegenerative disorder with onset of symptoms in infancy or early childhood. Affected individuals show episodic regression with progressive motor deterioration resulting in spastic tetraplegia and loss of ambulation, as well as impaired intellectual development with poor or absent speech. Brain imaging shows deep white matter abnormalities consistent with a progressive leukoencephalopathy. Laboratory studies show increased serum lactate and deficiencies of mitochondrial respiratory chain complexes, consistent with global mitochondrial dysfunction." [MIM:619147] synonym: "LEPID" EXACT [] synonym: "LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH DEAFNESS" NARROW [] xref: MIM:619147 xref: MONDO:0030893 is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9008681 ! Deafness created_by: slaulede creation_date: 2021-04-09T10:23:34Z [Term] id: DOID:9000307 name: Presbycusis def: "Gradual bilateral hearing loss associated with aging that is due to progressive degeneration of cochlear structures and central auditory pathways. Hearing loss usually begins with the high frequencies then progresses to sounds of middle and low frequencies." [MESH:D011304] synonym: "age-related hearing impairment" EXACT [] synonym: "Age-related hearing loss" EXACT [] synonym: "ARHL" EXACT [] synonym: "Presbyacusia" EXACT [] synonym: "Presbycuses" EXACT [] synonym: "Senile deafness" EXACT [] xref: EFO:0005782 xref: MESH:D011304 xref: MONDO:0043765 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:9000308 name: Bone Retroversion def: "Attachment of a bone in which its head and neck is rotated excessively backward." [MESH:D060751] synonym: "Bone Retrotorsion" EXACT [] synonym: "Bone Retrotorsions" EXACT [] synonym: "Bone Retroversions" EXACT [] xref: MESH:D060751 is_a: DOID:9000314 ! Torsion Abnormality is_a: DOID:9001456 ! Bone Malalignment [Term] id: DOID:9000309 name: Growth Hormone Insensitivity with Immune Dysregulation synonym: "growth hormone insensitivity syndrome with immune dysregulation" EXACT [] xref: MIM:PS245590 is_a: DOID:225 ! syndrome is_a: DOID:2914 ! immune system disease is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2020-10-09T12:58:24Z [Term] id: DOID:9000310 name: Lung Injury def: "Damage to any compartment of the lung caused by physical, chemical, or biological agents which characteristically elicit inflammatory reaction. These inflammatory reactions can either be acute and dominated by NEUTROPHILS, or chronic and dominated by LYMPHOCYTES and MACROPHAGES." [MESH:D055370] synonym: "Chronic Lung Injuries" NARROW [] synonym: "Chronic Lung Injury" NARROW [] synonym: "Lung Injuries" EXACT [] synonym: "Pulmonary Injuries" EXACT [] synonym: "Pulmonary Injury" EXACT [] xref: MESH:D055370 is_a: DOID:850 ! lung disease is_a: DOID:9001954 ! Thoracic Injuries [Term] id: DOID:9000311 name: Lichtenstein Syndrome alt_id: MIM:246550 xref: MESH:C535894 is_a: DOID:1227 ! neutropenia is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001487 ! Facies is_a: DOID:9008267 ! Fibrous Dysplasia of Bone [Term] id: DOID:9000312 name: Decerebrate State def: "A condition characterized by abnormal posturing of the limbs that is associated with injury to the brainstem. This may occur as a clinical manifestation or induced experimentally in animals. The extensor reflexes are exaggerated leading to rigid extension of the limbs accompanied by hyperreflexia and opisthotonus. This condition is usually caused by lesions which occur in the region of the brainstem that lies between the red nuclei and the vestibular nuclei. In contrast, decorticate rigidity is characterized by flexion of the elbows and wrists with extension of the legs and feet. The causative lesion for this condition is located above the red nuclei and usually consists of diffuse cerebral damage. (From Adams et al., Principles of Neurology, 6th ed, p358)" [MESH:D003655] synonym: "Decerebrate Posturing" EXACT [] synonym: "Decerebrate Posturings" EXACT [] synonym: "Decerebrate Rigidity" EXACT [] synonym: "Decerebrate States" EXACT [] synonym: "Decorticate Rigidities" EXACT [] synonym: "Decorticate Rigidity" EXACT [] synonym: "Decorticate State" EXACT [] synonym: "Decorticate States" EXACT [] xref: MESH:D003655 xref: RDO:0005312 is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9000313 name: Phosphaturic Mesenchymal Tumor def: "This is an extremely rare, benign or malignant mesenchymal tumor arising from the soft tissues or bones. It is a distinctive tumor, which usually displays the following morphologic characteristics: low cellularity, myxoid changes, presence of spindled cells and osteoclasts, hemangiopericytoma-like vessels, hemorrhage, and osteoid-like matrix. It is associated with the presence of a paraneoplastic syndrome called osteogenic osteomalacia. This syndrome usually precedes the appearance of the tumor, and it is characterized by phosphaturia, hypophosphatemia, normal serum calcium levels, and decreased levels of 1,25-dihydroxyvitamin D3. Patients present with bone and muscle pain, severe muscle weakness, fractures, gait disturbances, skeletal deformity, height loss, and slow growth. The metabolic disturbances improve or completely disappear after the complete resection of the tumor." [NCI:C67237] synonym: "Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Type" EXACT [] synonym: "Phosphaturic Mesenchymal Tumor, Mixed Connective Tissue Variant" EXACT [] synonym: "PMT" EXACT [] xref: EFO:1000473 is_a: DOID:9003944 ! Connective Tissue Neoplasms is_a: DOID:9004389 ! Bone Neoplasms created_by: slaulede creation_date: 2023-02-27T15:39:15Z [Term] id: DOID:9000314 name: Torsion Abnormality def: "An abnormal twisting or rotation of a bodily part or member on its axis." [MESH:D014102] synonym: "Torsion Abnormalities" EXACT [] xref: MESH:D014102 xref: RDO:0006725 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9000315 name: Pleural Neoplasms def: "Neoplasms of the thin serous membrane that envelopes the lungs and lines the thoracic cavity. Pleural neoplasms are exceedingly rare and are usually not diagnosed until they are advanced because in the early stages they produce no symptoms." [MESH:D010997] synonym: "pleural cavity neoplasm" EXACT [] synonym: "pleural cavity tumor" EXACT [] synonym: "Pleural Neoplasm" EXACT [] synonym: "pleural tumor" EXACT [] synonym: "pleura tumor" EXACT [] xref: MESH:D010997 xref: MONDO:0021065 xref: NCI:C3332 is_a: DOID:1532 ! pleural disease is_a: DOID:9003744 ! Respiratory Tract Neoplasms [Term] id: DOID:9000316 name: UV-Sensitive Syndrome 2 synonym: "ERCC8-RELATED CONDITION" BROAD [] synonym: "UVSS2" EXACT [] xref: MIM:614621 xref: NCI:C173110 is_a: DOID:0060240 ! UV-sensitive syndrome [Term] id: DOID:9000318 name: Dieterich's Disease synonym: "avascular necrosis of the metacarpal head" EXACT [] synonym: "Dieterich disease" EXACT [] xref: MESH:C536172 is_a: DOID:10159 ! osteonecrosis [Term] id: DOID:9000319 name: Lentigo alt_id: MIM:150900 def: "Small circumscribed melanoses resembling, but differing histologically from, freckles. The concept includes senile lentigo ('liver spots') and nevoid lentigo (nevus spilus, lentigo simplex) and may also occur in association with multiple congenital defects or congenital syndromes (e.g., Peutz-Jeghers syndrome)." [MESH:D007911] synonym: "Lentigines" EXACT [] synonym: "Lentiginoses" EXACT [] synonym: "Lentiginosis" EXACT [] synonym: "Lentigos" EXACT [] xref: MESH:D007911 is_a: DOID:9001583 ! Melanosis [Term] id: DOID:9000321 name: Autosomal Recessive Nonsyndromic Deafness 117 def: "Nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood, caused by homozygous mutation in the CLRN2 gene on chromosome 4p15. (OMIM)" [] synonym: "CLRN2-RELATED CONDITION" EXACT [] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 117" EXACT [] synonym: "DFNB117" EXACT [] xref: MIM:619174 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: mtutaj creation_date: 2021-02-03T10:35:49Z [Term] id: DOID:9000322 name: Fitz-Hugh-Curtis Syndrome synonym: "Gonococcal Perihepatitis" EXACT [] synonym: "Perihepatitis Syndrome" EXACT [] xref: MESH:C537936 is_a: DOID:1003 ! pelvic inflammatory disease is_a: DOID:11263 ! chlamydia is_a: DOID:2237 ! hepatitis is_a: DOID:225 ! syndrome is_a: DOID:8283 ! peritonitis [Term] id: DOID:9000323 name: Biventricular Hypertrophy def: "Enlargement of the heart, usually indicated by a cardiothoracic ratio above 0.50, involving both heart ventricles." [] synonym: "BVH" EXACT [] is_a: DOID:9003936 ! Cardiomegaly created_by: rgd creation_date: 2017-06-21T00:00:00Z [Term] id: DOID:9000324 name: Autoimmune Limb-Girdle Myasthenia alt_id: MIM:159400 synonym: "limb-girdle myasthenia gravis" EXACT [] xref: MESH:C563552 is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:437 ! myasthenia gravis [Term] id: DOID:9000325 name: Abscess def: "Accumulation of purulent material in tissues, organs, or circumscribed spaces, usually associated with signs of infection." [MESH:D000038] synonym: "Abscesses" EXACT [] xref: EFO:0003030 xref: MESH:D000038 is_a: DOID:9005889 ! Suppuration [Term] id: DOID:9000326 name: Thrombotic Microangiopathies def: "Diseases that result in THROMBOSIS in MICROVASCULATURE. The two most prominent diseases are PURPURA, THROMBOTIC THROMBOCYTOPENIC; and HEMOLYTIC-UREMIC SYNDROME. Multiple etiological factors include VASCULAR ENDOTHELIAL CELL damage due to SHIGA TOXIN; FACTOR H deficiency; and aberrant VON WILLEBRAND FACTOR formation." [MESH:D057049] synonym: "thrombotic microangiopathy" EXACT [] xref: MESH:D057049 is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9000327 name: Acute Myelocytic Leukemia with Polyposis Coli and Colon Cancer alt_id: MIM:246470 xref: MESH:C565441 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:9000329 name: Uterine Retroversion def: "A condition in which the UTERUS is found tilted backward toward the spine. The uterus is more commonly found in a straight vertical or anteverted (tipped forward) position. Although retroverted uterus is a normal variant position without symptoms, it is sometimes associated with pain, discomfort and other pregnancy complications." [MESH:D060725] synonym: "Incarcerated Retroverted Uterus" EXACT [] synonym: "Retroflexed Uterus" EXACT [] synonym: "Retroverted Gravid Uterus" EXACT [] synonym: "Retroverted Uterus" EXACT [] synonym: "Tipped Uterus" EXACT [] synonym: "Uterine Retroflexion" EXACT [] synonym: "Uterine Retroflexions" EXACT [] synonym: "Uterine Retroversions" EXACT [] xref: MESH:D060725 is_a: DOID:345 ! uterine disease is_a: DOID:9000314 ! Torsion Abnormality [Term] id: DOID:9000330 name: Kahn-Kahn-Katsanis Syndrome synonym: "3KS" EXACT [] synonym: "3K syndrome" EXACT [] xref: MIM:618460 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2019-06-25T13:42:43Z [Term] id: DOID:9000331 name: Parvoviridae Infections def: "Virus infections caused by the PARVOVIRIDAE." [MESH:D010322] synonym: "Parvoviridae Infection" EXACT [] synonym: "Parvovirus Infection" EXACT [] synonym: "Parvovirus Infections" EXACT [] xref: MESH:D010322 xref: RDO:0004800 is_a: DOID:9000251 ! DNA Virus Infections [Term] id: DOID:9000332 name: Hypovolemia def: "An abnormally low volume of blood circulating through the body. It may result in hypovolemic shock (see SHOCK)." [MESH:D020896] synonym: "Hypovolemias" EXACT [] synonym: "Hypovolemic" EXACT [] synonym: "Hypovolemics" EXACT [] xref: MESH:D020896 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9000333 name: Progressive Vestibulocochlear Dysfunction alt_id: MIM:193005 synonym: "Familial progressive vestibulo-cochlear dysfunction" EXACT [] synonym: "Familial progressive vestibulocochlear dysfunction" EXACT [] xref: MESH:C536346 is_a: DOID:12657 ! vestibulocochlear nerve disease [Term] id: DOID:9000334 name: Metaphyseal Dysplasia, Braun-Tinschert Type alt_id: MIM:605946 xref: MESH:C565271 is_a: DOID:0080019 ! metaphyseal dysplasia [Term] id: DOID:9000335 name: Keratoconus 8 synonym: "KTCN8" EXACT [] xref: MIM:614628 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9000336 name: Epispadias def: "A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or the side of the PENIS, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often between the CLITORIS and the labia, or in the ABDOMEN." [MESH:D004842] synonym: "Epispadia" EXACT [] xref: MESH:D004842 is_a: DOID:732 ! urethral disease is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9000337 name: Parental Death def: "The death of the father or mother or another person in this role." [MESH:D063129] synonym: "Parental Deaths" EXACT [] synonym: "Paternal Death" EXACT [] synonym: "Paternal Deaths" EXACT [] xref: MESH:D063129 xref: RDO:0012111 is_a: DOID:9000543 ! Death [Term] id: DOID:9000339 name: Immunodeficiency 102 def: "An X-linked recessive immunologic disorder characterized by the onset of recurrent sinopulmonary, mucosal, and other infections in early childhood, usually accompanied by refractory autoimmune cytopenias. Caused by hemizygous mutation in the SASH3 gene on chromosome Xq26." [MIM:301082] synonym: "IMD102" EXACT [] xref: MIM:301082 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2022-06-02T12:29:40Z [Term] id: DOID:9000341 name: Concentric Annular Macular Dystrophy alt_id: MIM:153870 synonym: "BCAMD" EXACT [] synonym: "benign concentric annular macular dystrophy" EXACT [] synonym: "bull's eye maculopathy" EXACT [] synonym: "IMPG1-RELATED CONDITION" BROAD [] synonym: "MCDCA" EXACT [] synonym: "retinitis pigmentosa 91" EXACT [] synonym: "RP91" EXACT [] xref: MESH:C537833 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:4448 ! macular degeneration [Term] id: DOID:9000343 name: Vision Disorders def: "Visual impairments limiting one or more of the basic functions of the eye: visual acuity, dark adaptation, color vision, or peripheral vision. These may result from EYE DISEASES; OPTIC NERVE DISEASES; VISUAL PATHWAY diseases; OCCIPITAL LOBE diseases; OCULAR MOTILITY DISORDERS; and other conditions (From Newell, Ophthalmology: Principles and Concepts, 7th ed, p132)." [MESH:D014786] synonym: "Day Blindness" EXACT [] synonym: "Hemeralopia" EXACT [] synonym: "hemeralopias" EXACT [] synonym: "Macropsia" EXACT [] synonym: "macropsias" EXACT [] synonym: "Metamorphopsia" EXACT [] synonym: "Metamorphopsias" EXACT [] synonym: "Micropsia" EXACT [] synonym: "Micropsias" EXACT [] synonym: "Vision Disabilities" EXACT [] synonym: "Vision Disability" EXACT [] synonym: "Vision Disorder" EXACT [] synonym: "visual disorder" EXACT [] synonym: "visual disorders" EXACT [] synonym: "visual impairment" EXACT [] synonym: "visual impairments" EXACT [] xref: MESH:D014786 xref: MONDO:0021084 is_a: DOID:0050155 ! sensory system disease is_a: DOID:5614 ! eye disease [Term] id: DOID:9000345 name: Periventricular Laminar Heterotopia alt_id: RDO:0004674 xref: MESH:C548481 is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9004667 ! Malformations of Cortical Development, Group II [Term] id: DOID:9000346 name: Congenital Disorder of Glycosylation Type IIt synonym: "CDG2T" EXACT [] synonym: "CDG IIt" EXACT [] synonym: "CDGIIt" EXACT [] xref: MIM:618885 is_a: DOID:0050571 ! congenital disorder of glycosylation type II created_by: mtutaj creation_date: 2020-05-21T12:14:24Z [Term] id: DOID:9000347 name: Multisystem Autoimmune Disease, Infantile-Onset, 1 def: "A disease characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. (OMIM)" [] synonym: "ADMIO1" EXACT [] synonym: "STAT3-RELATED CONDITIONS" BROAD [] synonym: "STAT3-related early-onset multisystem autoimmune disease" EXACT [] xref: MIM:615952 xref: NCI:C157123 xref: ORDO:438159 is_a: DOID:9002419 ! Multisystem Autoimmune Disease, Infantile-Onset [Term] id: DOID:9000348 name: Confusion def: "A mental state characterized by bewilderment, emotional disturbance, lack of clear thinking, and perceptual disorientation." [MESH:D003221] synonym: "Bewilderment" EXACT [] synonym: "Confusional State" EXACT [] synonym: "Confusional States" EXACT [] synonym: "Disorientation" EXACT [] synonym: "Post-Ictal Confusion" EXACT [] synonym: "Reactive Confusion" EXACT [] xref: EFO:0020914 xref: MESH:D003221 is_a: DOID:9002320 ! Neurobehavioral Manifestations [Term] id: DOID:9000349 name: Spastic Paraplegia with Kallmann Syndrome alt_id: MIM:308750 synonym: "Familial spastic paraplegia with Kallmann's syndrome" EXACT [] synonym: "Spastic Paraplegia-Kallmann Syndrome" EXACT [] xref: MESH:C536873 is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:3614 ! Kallmann syndrome [Term] id: DOID:9000350 name: Toxocara Canis Infection (Canine Roundworms) synonym: "Human infection with the larvae of canine or feline roundworms" EXACT [] synonym: "Toxocara catis infection (feline roundworms)" EXACT [] xref: MESH:C531834 xref: RDO:0000227 is_a: DOID:9790 ! toxocariasis [Term] id: DOID:9000351 name: Diarrhea 9 def: "A form of neonatal-onset chronic diarrhea characterized by an osmotic diarrhea that is not substrate specific." [MIM:618168] synonym: "CHRONIC DIARRHEA" BROAD [] synonym: "DIAR9" EXACT [] xref: MIM:618168 is_a: DOID:9007847 ! Infantile Diarrhea created_by: slaulede creation_date: 2018-12-06T14:44:13Z [Term] id: DOID:9000352 name: Vascular System Injuries def: "Injuries to blood vessels caused by laceration, contusion, puncture, or crush and other types of injuries. Symptoms vary by site and mode of injuries and may include bleeding, bruising, swelling, pain, and numbness. It does not include injuries secondary to pathologic function or diseases such as ATHEROSCLEROSIS." [MESH:D057772] synonym: "Vascular Injuries" EXACT [] synonym: "Vascular Injury" EXACT [] synonym: "Vascular System Injury" EXACT [] xref: MESH:D057772 xref: RDO:0007794 is_a: DOID:178 ! vascular disease is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9000353 name: Callosities def: "Localized hyperplasia of the horny layer of the epidermis due to pressure or friction. (Dorland, 27th ed)" [MESH:D002145] synonym: "Callosity" EXACT [] synonym: "Corns" EXACT [] xref: MESH:D002145 is_a: DOID:161 ! keratosis [Term] id: DOID:9000354 name: Fish Diseases def: "Diseases of freshwater, marine, hatchery or aquarium fish. This term includes diseases of both teleosts (true fish) and elasmobranchs (sharks, rays and skates)." [MESH:D005393] synonym: "Fish Disease" EXACT [] xref: MESH:D005393 xref: RDO:0005610 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9000355 name: Neurodevelopmental Disorder with Microcephaly and Gray Sclerae def: "MRT55 is caused by homozygous mutation in the PUS3 gene on chromosome 11q24." [] synonym: "Mental Retardation, Autosomal Recessive 55" EXACT [] synonym: "MRT55" EXACT [] synonym: "NEDMIGS" EXACT [] xref: MIM:617051 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:9000356 name: Transaldolase Deficiency alt_id: MIM:606003 def: "Transaldolase deficiency is a rare inborn error of pentose metabolism. Typical features include intrauterine growth restriction, triangular vase, loose wrinkly skin at birth, and development of progressive liver failure. Transaldolase deficiency is caused by homozygous or compound heterozygous mutation in the TALDO1 gene on chromosome 11p15. (OMIM)" [] synonym: "Eyaid syndrome" EXACT [] synonym: "TALDO deficiency" EXACT [] xref: MESH:C563207 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9000357 name: Male Breast Neoplasms alt_id: RDO:0007219 def: "Any neoplasms of the male breast. These occur infrequently in males in developed countries, the incidence being about 1% of that in females." [] synonym: "Male Breast Neoplasm" EXACT [] synonym: "Male Breast Tumor" EXACT [] synonym: "Male Breast Tumors" EXACT [] xref: MESH:D018567 is_a: DOID:9008939 ! Breast Neoplasms [Term] id: DOID:9000359 name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH PROGRESSIVE MICROCEPHALY def: "This disease is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from infancy. The phenotype is highly variable." [MIM:619847] synonym: "childhood-onset neurodegeneration with progressive microcephaly" EXACT [] synonym: "CONPM" EXACT [] xref: MIM:619847 is_a: DOID:10907 ! microcephaly is_a: DOID:1289 ! neurodegenerative disease created_by: slaulede creation_date: 2022-06-28T10:21:16Z [Term] id: DOID:9000361 name: Nonspherocytic Hemolytic Anemia, associated with Abnormality of Red Cell Membrane alt_id: MIM:206300 alt_id: RDO:0014453 xref: MESH:C565953 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:9000362 name: Adrenal Gland Neoplasms alt_id: RDO:0001990 def: "Tumors or cancer of the ADRENAL GLANDS." [MESH:D000310] synonym: "adrenal gland neoplasm" EXACT [] synonym: "adrenal neoplasm" EXACT [] synonym: "adrenal neoplasms" EXACT [] synonym: "neoplasm of adrenal gland" EXACT [] synonym: "tumor of the adrenal gland" EXACT [] xref: EFO:0003850 xref: MESH:D000310 is_a: DOID:9007803 ! Endocrine Gland Neoplasms is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:9000363 name: Hematuria def: "Presence of blood in the urine." [MESH:D006417] synonym: "Hematurias" EXACT [] synonym: "MACROSCOPIC HEMATURIA" NARROW [] xref: MESH:D006417 is_a: DOID:9003919 ! Urination Disorders is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9000365 name: Immunodeficiency 92 def: "An autosomal recessive primary immunodeficiency characterized by the onset of recurrent infections in infancy or early childhood. Caused by homozygous mutation in the REL gene on chromosome 2p16." [MIM:619652] synonym: "IMD92" EXACT [] xref: MIM:619652 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-12-14T10:19:35Z [Term] id: DOID:9000366 name: Isolated Thyrotropin Deficiency alt_id: RDO:0016057 xref: MESH:C000610012 is_a: DOID:7998 ! hyperthyroidism [Term] id: DOID:9000367 name: Multiple Trauma def: "Multiple physical insults or injuries occurring simultaneously." [MESH:D009104] synonym: "Multiple Injuries" EXACT [] synonym: "Multiple Injury" EXACT [] synonym: "Multiple Traumas" EXACT [] synonym: "Multiple Wound" EXACT [] synonym: "Multiple Wounds" EXACT [] synonym: "Polytrauma" EXACT [] synonym: "Polytraumas" EXACT [] xref: MESH:D009104 xref: RDO:0006151 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9000368 name: Gastrointestinal Ulceration, Recurrent, with Dysfunctional Platelets def: "Recurrent gastrointestinal ulceration with dysfunctional platelets (GURDP) is an autosomal recessive disorder characterized by onset of severe gastrointestinal mucosal ulceration in early childhood. Affected individuals may have secondary iron deficiency anemia or malnourishment. Studies of platelet aggregation show a functional defect associated with decreased thromboxane-A2 production and decreased eicosanoid biosynthesis. The gastrointestinal disease is believed to result from decreased or absent production of prostaglandins that protect the gut mucosa. GURDP is caused by homozygous or compound heterozygous mutation in the PLA2G4A gene on chromosome 1q31." [MIM:618372] synonym: "GURDP" EXACT [] synonym: "Phospholipase A2, Group IVA, Deficiency of" EXACT [] xref: EFO:0010263 xref: MIM:618372 xref: RDO:9001198 is_a: DOID:2218 ! blood platelet disease is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:77 ! gastrointestinal system disease created_by: rgd creation_date: 2016-06-13T00:00:00Z [Term] id: DOID:9000369 name: Talonavicular Coalition alt_id: MIM:186750 xref: MESH:C536895 is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:9000370 name: streptococcal pharyngitis def: "This is inflammation of the throat due to Streptococcus pyogenes." [NCI:C116003] xref: EFO:1002024 is_a: DOID:2275 ! pharyngitis is_a: DOID:9006844 ! Streptococcal Infections created_by: slaulede creation_date: 2023-02-02T15:38:35Z [Term] id: DOID:9000371 name: influenza A def: "A viral infectious disease that results in infection, located in respiratory tract, has_material_basis_in Influenza virus A, which are transmitted_by droplet spread of oronasal secretions during coughing, sneezing, or talking from an infected person. It is a highly contagious disease that has_symptom chills, has_symptom fever, has_symptom sore throat, has_symptom runny nose, has_symptom muscle pains, has_symptom severe headache, has_symptom cough, and has_symptom weakness. Because type A influenza viruses mutate quickly, creating new strains from one flu season to the next., past flu vaccinations will not prevent infection from a new strain." [https://www.healthline.com, https://www.merriam-webster.com/] synonym: "Influenza caused by Influenza A virus" EXACT [] synonym: "Influenza due to Influenza A virus" EXACT [] xref: PMID:27438481 is_a: DOID:9001488 ! Human Influenza created_by: slaulede creation_date: 2020-12-21T18:43:42Z [Term] id: DOID:9000372 name: Autosomal Dominant Intellectual Developmental Disorder 63 with Macrocephaly synonym: "autosomal dominant mental retardation 63 with macrocephaly" EXACT [] synonym: "MRD63" EXACT [] synonym: "TRIO-RELATED CONDITION" BROAD [] xref: MIM:618825 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:9003816 ! Macrocephaly created_by: mtutaj creation_date: 2020-04-01T12:08:25Z [Term] id: DOID:9000373 name: Muscle Cramp def: "A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398)" [MESH:D009120] synonym: "Cramp" EXACT [] synonym: "Cramps" EXACT [] synonym: "Limb Cramp" EXACT [] synonym: "Limb Cramps" EXACT [] synonym: "Muscle Cramps" EXACT [] synonym: "Muscular Cramp" EXACT [] synonym: "Muscular Cramps" EXACT [] xref: EFO:0009846 xref: MESH:D009120 is_a: DOID:0080000 ! muscular disease is_a: DOID:9000165 ! Neuromuscular Manifestations [Term] id: DOID:9000375 name: Drowning def: "Death that occurs as a result of anoxia or heart arrest, associated with immersion in liquid." [MESH:D004332] synonym: "Drownings" EXACT [] xref: MESH:D004332 is_a: DOID:9000543 ! Death is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9000376 name: Cone-Rod Dystrophy and Hearing Loss 1 def: "CRDHL1 is characterized by cone-rod dystrophy and sensorineural hearing loss, with relatively late onset of both ocular and hearing impairment. The funduscopic findings are characteristic, showing ring-shaped atrophy along the major vascular arcades that manifests on fundus autofluorescence as a hypoautofluorescent band along the vascular arcades surrounded by hyperautofluorescent borders." [MIM:617236] synonym: "CRDHL1" EXACT [] xref: MIM:617236 xref: MONDO:0020778 is_a: DOID:9000732 ! Cone-Rod Dystrophy and Hearing Loss created_by: mtutaj creation_date: 2022-01-04T11:40:22Z [Term] id: DOID:9000377 name: Liberfarb Syndrome def: "A progressive disorder involving connective tissue, bone, retina, ear, and brain. Caused by homozygous mutation in the PISD gene on chromosome 22q12. (OMIM)" [] synonym: "LIBF" EXACT [] synonym: "PISD-RELATED MITOCHONDRIAL DISEASE" EXACT [] synonym: "SEMDLIBF" EXACT [] synonym: "spondyloepimetaphyseal dysplasia, Liberfarb type" EXACT [] xref: MIM:618889 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2020-07-02T12:49:37Z [Term] id: DOID:9000378 name: Congenital Anosmia alt_id: MIM:107200 alt_id: MIM:301700 synonym: "ANIC" EXACT [] synonym: "Isolated congenital anosmia" EXACT [] xref: MESH:C535983 is_a: DOID:9004147 ! Anosmia [Term] id: DOID:9000379 name: Isolated Syringomyelia alt_id: MIM:186700 xref: MESH:C566084 xref: RDO:0014546 is_a: DOID:327 ! syringomyelia [Term] id: DOID:9000380 name: Spondylarthritis def: "Inflammation of the joints of the SPINE, the intervertebral articulations." [MESH:D025241] synonym: "Spinal Arthritides" EXACT [] synonym: "Spinal Arthritis" EXACT [] synonym: "Spondylarthritides" EXACT [] xref: MESH:D025241 is_a: DOID:6590 ! spondylitis is_a: DOID:848 ! arthritis [Term] id: DOID:9000381 name: Chromosome 12p Partial Deletion synonym: "12p monosomy, partial" EXACT [] synonym: "Deletion 12p12 p11" EXACT [] synonym: "Deletion 12p13" EXACT [] synonym: "Monosomy 12p11" EXACT [] synonym: "Monosomy 12p13" EXACT [] xref: MESH:C538302 xref: RDO:0004264 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9000382 name: Myopia 27 synonym: "MYP27" EXACT [] xref: MIM:618827 is_a: DOID:11830 ! myopia created_by: mtutaj creation_date: 2020-03-30T10:36:12Z [Term] id: DOID:9000383 name: Galloway-Mowat Syndrome 6 def: "Galloway-Mowat syndrome is a phenotypically heterogeneous disorder characterized by neurodevelopmental defects combined with renal-glomerular disease manifest as nephrotic syndrome and proteinuria. Most patients with Galloway-Mowat syndrome-6 (GAMOS6) also have growth deficiency with variable microcephaly, and the renal disease may be age-dependent. Additional variable endocrine abnormalities have also been reported. GAMOS6 is caused by homozygous or compound heterozygous mutation in the WDR4 gene on chromosome 21q22." [MIM:618347] synonym: "GAMOS6" EXACT [] synonym: "WDR4-RELATED CONDITION" BROAD [] xref: MIM:618347 is_a: DOID:0080694 ! Galloway-Mowat syndrome created_by: gthayman creation_date: 2019-03-12T11:44:41Z [Term] id: DOID:9000384 name: Asymptomatic Infections def: "Infections that do not exhibit symptoms." [MESH:D058345] synonym: "Asymptomatic Infection" EXACT [] synonym: "Subclinical Infection" EXACT [] synonym: "Subclinical Infections" EXACT [] xref: MESH:D058345 is_a: DOID:9003924 ! Asymptomatic Diseases [Term] id: DOID:9000385 name: Congenital Emphysema, with Deafness, Penoscrotal Web, and Mental Retardation xref: MESH:C566519 xref: MIM:602564 xref: MONDO:0011256 is_a: DOID:1059 ! intellectual disability is_a: DOID:9002884 ! Emphysema is_a: DOID:9008681 ! Deafness [Term] id: DOID:9000386 name: Polyomavirus Infections def: "Infections with POLYOMAVIRUS, which are often cultured from the urine of kidney transplant patients. Excretion of BK VIRUS is associated with ureteral strictures and CYSTITIS, and that of JC VIRUS with progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL)." [MESH:D027601] synonym: "Polyomavirus Infection" EXACT [] synonym: "Polyomavirus infectious disease" EXACT [] xref: EFO:0007451 xref: MESH:D027601 xref: MONDO:0005927 is_a: DOID:9000251 ! DNA Virus Infections [Term] id: DOID:9000387 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS def: "This disease is an autosomal recessive disorder characterized by severely impaired global development apparent from infancy, progressive microcephaly, and neonatal cholestasis. Affected individuals show feeding difficulties, failure to thrive, hypotonia, seizures, hyperkinetic movements, irritability, and poor eye contact or vision, and achieve almost no motor or cognitive developmental milestones. Brain imaging demonstrates agenesis or hypoplasia of the corpus callosum." [MIM:619685] synonym: "NEDMSC" EXACT [] xref: MIM:619685 is_a: DOID:10907 ! microcephaly is_a: DOID:13580 ! cholestasis is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-03-22T15:47:13Z [Term] id: DOID:9000388 name: BOCKENHEIMER SYNDROME def: "This is a very rare condition characterized by extensive, circumscribed venous malformations (phlebectasias) involving all veins, including the smallest ones, on the arms and legs. It is present at birth (congenital) and is progressive during life. The venous dilatation can be seen beneath the skin on the arms and legs. It may occur on one or both sides." [https://rarediseases.info.nih.gov/diseases/13063/genuine-diffuse-phlebectasia, ORPHA:217008] synonym: "genuine diffuse phlebectasia" EXACT [] xref: ORPHA:217008 is_a: DOID:37 ! skin disease is_a: DOID:630 ! genetic disease is_a: DOID:74 ! hematopoietic system disease created_by: slaulede creation_date: 2022-02-03T11:35:08Z [Term] id: DOID:9000389 name: Blepharophimosis with Facial and Genital Anomalies and Mental Retardation alt_id: MIM:604314 synonym: "BLEPHAROPHIMOSIS-MENTAL RETARDATION SYNDROME, VERLOES TYPE" EXACT [] xref: MESH:C565797 is_a: DOID:10348 ! blepharophimosis is_a: DOID:1059 ! intellectual disability is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000390 name: Ophthalmoplegia Totalis with Ptosis and Miosis alt_id: MIM:258400 xref: MESH:C564927 is_a: DOID:0060260 ! ptosis is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9003165 ! Miosis [Term] id: DOID:9000391 name: Calcific Aortic Disease with Immunologic Abnormalities, Familial alt_id: MIM:114065 xref: MESH:C566182 is_a: DOID:182 ! calcinosis is_a: DOID:520 ! aortic disease [Term] id: DOID:9000392 name: Fluoride Poisoning def: "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of FLUORIDE compounds." [MESH:D005458] synonym: "Fluoride Poisonings" EXACT [] xref: EFO:1001328 xref: MESH:D005458 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9000393 name: Platelet Alpha/Delta Storage Pool Deficiency xref: MESH:C566794 xref: RDO:0015040 is_a: DOID:2223 ! platelet storage pool deficiency [Term] id: DOID:9000394 name: Adenomyoepithelioma def: "A mixed epithelial and myoepithelial neoplasm usually encountered within the breast. It is a multinodular lesion presenting with a bicellular pattern of proliferating epithelial and myoepithelial cells, which are regularly distributed in the glandular structures." [] synonym: "Adenomyoepitheliomas" EXACT [] xref: MESH:D055331 is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:9000395 name: Ascaridida Infections def: "Infections with nematodes of the order ASCARIDIDA." [MESH:D017191] synonym: "Ascaridida Infection" EXACT [] synonym: "Ascaridida infectious disease" EXACT [] xref: EFO:0007156 xref: MESH:D017191 is_a: DOID:9004401 ! Secernentea Infections [Term] id: DOID:9000396 name: Tetramelic Postaxial Oligodactyly alt_id: MIM:176240 xref: MESH:C566767 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9000397 name: Genetic Predisposition to Disease def: "A latent susceptibility to disease at the genetic level, which may be activated under certain conditions." [MESH:D020022] synonym: "Genetic Predisposition" EXACT [] synonym: "Genetic Predispositions" EXACT [] synonym: "Genetic Susceptibilities" EXACT [] synonym: "Genetic Susceptibility" EXACT [] xref: MESH:D020022 is_a: DOID:9002174 ! Disease Susceptibility [Term] id: DOID:9000398 name: Powell Chandra Saal Syndrome alt_id: MIM:261575 synonym: "PHAVER syndrome" EXACT [] synonym: "Vertebral, radial, congenital heart, and ear defects" EXACT [] xref: MESH:C538357 is_a: DOID:0002116 ! pterygium is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000399 name: Baraitser Rodeck Garner syndrome xref: MESH:C537906 is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:2975 ! cystic kidney disease is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:9000400 name: Beardwell Syndrome synonym: "Familial ankylosing vertebral hyperostosis with tylosis" EXACT [] xref: MESH:C537665 is_a: DOID:225 ! syndrome is_a: DOID:6652 ! diffuse idiopathic skeletal hyperostosis is_a: DOID:9002223 ! Diffuse Palmoplantar Keratoderma [Term] id: DOID:9000401 name: Alternariosis def: "Opportunistic fungal infection by a member of ALTERNARIA genus." [MESH:D060487] synonym: "alternarioses" EXACT [] synonym: "cutaneous alternarioses" EXACT [] synonym: "Cutaneous Alternariosis" EXACT [] synonym: "Dermal Alternarioses" EXACT [] synonym: "Dermal Alternariosis" EXACT [] synonym: "subcutaneous alternarioses" EXACT [] synonym: "subcutaneous alternariosis" EXACT [] xref: EFO:1001262 xref: MESH:D060487 xref: MONDO:0044083 is_a: DOID:9007316 ! Hyalohyphomycosis [Term] id: DOID:9000402 name: Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 def: "A highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Caused by heterozygous mutation in the H3F3B gene on chromosome 17q25." [MIM:619721] synonym: "BRYLIB2" EXACT [] synonym: "H3-3B-RELATED CONDITION" EXACT [] xref: MIM:619721 is_a: DOID:9002771 ! Bryant-Li-Bhoj Neurodevelopmental Syndrome created_by: mtutaj creation_date: 2022-02-10T13:36:16Z [Term] id: DOID:9000403 name: Animal Mammary Neoplasms def: "Tumors or cancer of the MAMMARY GLAND in animals (MAMMARY GLANDS, ANIMAL)." [MESH:D015674] synonym: "animal mammary carcinoma" NARROW [] synonym: "animal mammary carcinomas" NARROW [] synonym: "animal mammary neoplasm" EXACT [] synonym: "mammary neoplasm" EXACT [] synonym: "mammary neoplasms" EXACT [] xref: MESH:D015674 is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9008939 ! Breast Neoplasms [Term] id: DOID:9000404 name: Hemobilia def: "Hemorrhage in or through the BILIARY TRACT due to trauma, inflammation, CHOLELITHIASIS, vascular disease, or neoplasms." [MESH:D006431] synonym: "Biliary Tract Hemorrhage" EXACT [] synonym: "Biliary Tract Hemorrhages" EXACT [] synonym: "Hemobilias" EXACT [] xref: MESH:D006431 is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9000405 name: Echo Virus 11 Sensitivity alt_id: MIM:129150 synonym: "E11S" EXACT [] xref: MESH:C565071 xref: RDO:0013812 is_a: DOID:9002174 ! Disease Susceptibility is_a: DOID:9006823 ! Echovirus Infections [Term] id: DOID:9000406 name: Eosinophilic Asthma def: "A severe type of asthma featuring elevated sputum and/or blood eosinophils." [] xref: RDO:9001237 is_a: DOID:2841 ! asthma created_by: rgd creation_date: 2016-08-18T00:00:00Z [Term] id: DOID:9000407 name: Wegener-Like Granulomatosis xref: MESH:C566810 xref: RDO:0015052 is_a: DOID:12132 ! granulomatosis with polyangiitis [Term] id: DOID:9000408 name: Porokeratosis 3, Multiple Types alt_id: MIM:175900 def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Multiple types of porokeratosis (POROK3) are caused by heterozygous mutation in the MVK gene on chromosome 12q24. (OMIM)" [] synonym: "disseminated superficial actinic porokeratosis 1" EXACT [] synonym: "DSAP1" EXACT [] synonym: "POROK3" EXACT [] xref: MESH:C536339 is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9000409 name: Lopes-Maciel-Rodan Syndrome alt_id: RDO:9001710 synonym: "LOMARS" EXACT [] xref: EFO:0009904 xref: MIM:617435 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2017-06-16T00:00:00Z [Term] id: DOID:9000410 name: Cerebrorenodigital Syndrome with Limb Malformations and Triradiate Acetabula alt_id: MIM:609345 xref: MESH:C563731 is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9000983 ! Encephalocele is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9000411 name: Porokeratosis 7, Multiple Types def: "A rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Multiple types of porokeratosis (POROK7) are caused by heterozygous mutation in the MVD gene on chromosome 16q24. (OMIM)" [] synonym: "multiple types of porokeratosis 7" EXACT [] synonym: "POROK7" EXACT [] xref: MIM:614714 is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9000412 name: Presenile and Senile Dementia xref: MESH:C563254 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:9000413 name: Junctional Epidermolysis Bullosa 4, Intermediate def: "An autosomal recessive, nonlethal skin disorder characterized by blistering and erosions at birth or shortly afterward. Caused by homozygous or compound heterozygous mutation in the COL17A1 gene on chromosome 10q25." [MIM:619787] synonym: "COL17A1-RELATED CONDITION" BROAD [] synonym: "GABEB" EXACT [] synonym: "generalized atrophic benign epidermolysis bullosa" EXACT [] synonym: "JEB4" EXACT [] synonym: "Junctional Epidermolysis Bullosa 4, Non-Herlitz Type" EXACT [] synonym: "junctional epidermolysis bullosa, localisata variant" EXACT [] xref: MIM:619787 is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type created_by: mtutaj creation_date: 2022-06-07T11:25:02Z [Term] id: DOID:9000414 name: Horner Syndrome, Congenital xref: MESH:C564178 xref: RDO:0013222 is_a: DOID:11486 ! Horner's syndrome [Term] id: DOID:9000415 name: Hemothorax def: "Hemorrhage within the pleural cavity." [MESH:D006491] xref: MESH:D006491 is_a: DOID:1532 ! pleural disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9000416 name: Ectodermal Dysplasia-Syndactyly Syndrome 2 synonym: "EDSS2" EXACT [] xref: MIM:613576 is_a: DOID:9000244 ! Ectodermal Dysplasia-Syndactyly Syndrome [Term] id: DOID:9000417 name: Glaucoma 1, Open Angle, P def: "A hereditary, autosomal dominant form of glaucoma that is characterized by cupping of the optic nerve head and visual field defects but no increase in intraocular pressure. It primarily affects younger patients and is associated with a 300 kb duplication in the q region of chromosome 12 (12q14) (MESH)" [] synonym: "GLC1P" EXACT [] synonym: "pseudoglaucoma" EXACT [] xref: MESH:C566748 xref: MIM:177700 xref: MONDO:0008328 is_a: DOID:1070 ! primary open angle glaucoma is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9000418 name: heart-hand syndrome type 3 synonym: "atriodigital dysplasia type 3" EXACT [] synonym: "brachydactyly and intraventricular conduction defect" EXACT [] synonym: "cardiomelic syndrome type 3" EXACT [] synonym: "heart-hand syndrome, Spanish Type" EXACT [] synonym: "heart-limb syndrome type 3" EXACT [] synonym: "upper limb malformations and congenital cardiac anomalies" EXACT [] xref: GARD:2614 xref: MESH:C535853 xref: MIM:140450 xref: MONDO:0007702 xref: ORDO:1342 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0060468 ! Holt-Oram syndrome [Term] id: DOID:9000419 name: Benign Familial Neonatal Seizures, 1 alt_id: DOID:9008347 synonym: "Benign familial neonatal convulsions 1, and/or myokymia" RELATED [] synonym: "Benign familial neonatal seizures 1, and/or myokymia" RELATED [] synonym: "BFNS1" EXACT [] synonym: "CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME" RELATED [] synonym: "EPILEPSY, BENIGN NEONATAL, 1, AND/OR MYOKYMIA" RELATED [] synonym: "KCNQ2-RELATED CONDITION" BROAD [] synonym: "SEIZURES, BENIGN FAMILIAL NEONATAL, 1" EXACT [] xref: MESH:C567743 xref: MESH:C567744 xref: MIM:121200 xref: MONDO:0007365 is_a: DOID:14777 ! benign familial neonatal epilepsy is_a: DOID:9003935 ! Myokymia is_a: DOID:9006888 ! Benign Neonatal Epilepsy, 1 [Term] id: DOID:9000420 name: Short Stature, Amelogenesis Imperfecta, and Skeletal Dysplasia with Scoliosis def: "Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis (SSASKS) is characterized by disproportionate short stature, defective tooth enamel formation, and skeletal dysplasia with severe scoliosis in some patients. Variable features include facial dysmorphism, moderate hearing impairment, and mildly impaired intellectual development. SSASKS is caused by homozygous or compound heterozygous mutation in the SLC10A7 gene (611459) on chromosome 4q31. (OMIM)" [] synonym: "SSASKS" EXACT [] xref: MIM:618363 is_a: DOID:0060249 ! scoliosis is_a: DOID:2187 ! amelogenesis imperfecta is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders created_by: gthayman creation_date: 2019-03-20T00:00:00Z [Term] id: DOID:9000421 name: Erosive Arthropathy alt_id: MIM:605935 xref: MESH:C565273 is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9006836 ! Contracture is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000422 name: Chronic Hepatitis D def: "INFLAMMATION of the LIVER in humans caused by HEPATITIS DELTA VIRUS in conjunction with HEPATITIS B VIRUS and lasting six months or more." [MESH:D019701] synonym: "chronic delta hepatitides" EXACT [] synonym: "chronic delta hepatitis" EXACT [] xref: MESH:D019701 is_a: DOID:2047 ! hepatitis D is_a: DOID:9008510 ! Chronic Hepatitis [Term] id: DOID:9000423 name: Aspermia def: "A condition characterized by the complete absence of SEMEN. This disorder should be differentiated from AZOOSPERMIA, absence of sperm in the semen." [MESH:D053714] xref: MESH:D053714 is_a: DOID:12336 ! male infertility [Term] id: DOID:9000425 name: Fronto-Facio-Nasal Dysplasia alt_id: MIM:229400 synonym: "Fronto-facio-nasal dysostosis" EXACT [] synonym: "Frontofacionasal Dysostosis" EXACT [] synonym: "Frontofacionasal Dysplasia" EXACT [] xref: MESH:C538063 is_a: DOID:1934 ! dysostosis is_a: DOID:9000983 ! Encephalocele is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9008797 ! Facial Asymmetry [Term] id: DOID:9000426 name: XYY Karyotype def: "Abnormal genetic constitution in males characterized by an extra Y chromosome." [MESH:D014997] synonym: "XYY Karyotypes" EXACT [] xref: MESH:D014997 is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9003389 ! Abnormal Karyotype [Term] id: DOID:9000427 name: Arachnodactyly-Ataxia-Cataract-Aminoaciduria-Mental Retardation xref: MESH:C537424 is_a: DOID:1059 ! intellectual disability is_a: DOID:83 ! cataract is_a: DOID:9005367 ! Arachnodactyly [Term] id: DOID:9000428 name: Prostate Cancer, Hereditary, 7 alt_id: MIM:610321 synonym: "HPC7" EXACT [] synonym: "Prostate Cancer Aggressiveness" EXACT [] xref: MESH:C565201 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9000429 name: Nuclear Type Mitochondrial Complex I Deficiency 37 synonym: "MC1DN37" EXACT [] xref: MIM:619272 is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2021-04-16T13:14:00Z [Term] id: DOID:9000430 name: Platelet-Type Bleeding Disorder 24 def: "An autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. Caused by heterozygous mutation in the ITGA3 gene, which encodes platelet glycoprotein alpha-III, on chromosome 17q21.32." [MIM:619271] synonym: "BDPLT24" EXACT [] synonym: "Glanzmann thrombasthenia-like with macrothrombocytopenia 2" EXACT [] xref: MIM:619271 is_a: DOID:2218 ! blood platelet disease created_by: mtutaj creation_date: 2021-04-14T14:31:01Z [Term] id: DOID:9000431 name: Mannose-Binding Protein Deficiency alt_id: MIM:614372 synonym: "LCAPD1" EXACT [] synonym: "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 1" EXACT [] synonym: "Mannose-Binding Lectin Deficiency" EXACT [] synonym: "Mannose-Binding Lectin Protein Deficiency" EXACT [] synonym: "MBL2 Deficiency" EXACT [] synonym: "MBLD" EXACT [] synonym: "MBL Deficiency" EXACT [] synonym: "MBP Deficiency" EXACT [] xref: MESH:C563602 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9002118 ! Lectin Complement Activation Pathway Defects [Term] id: DOID:9000432 name: Geniospasm alt_id: MIM:190100 synonym: "Geniospasm 1" EXACT [] synonym: "GSM1" EXACT [] synonym: "Hereditary geniospasm" EXACT [] synonym: "Trembling chin" EXACT [] xref: MESH:C537682 is_a: DOID:9000495 ! Tremor is_a: DOID:9003876 ! Jaw Diseases [Term] id: DOID:9000433 name: Idiopathic Copper Toxicosis xref: MESH:C565846 is_a: DOID:5082 ! liver cirrhosis is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:9000434 name: Ray Peterson Scott Syndrome synonym: "Pelvic dysplasia associated with arthrogrypotic changes in the lower extremities" EXACT [] synonym: "Pelvic hypoplasia, and arthrogrypotic changes in the lower limbs" EXACT [] xref: MESH:C535292 xref: RDO:0000315 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9000435 name: Woolly Hair, Hypotrichosis, Everted Lower Lip and Outstanding Ears alt_id: MIM:278200 synonym: "Salamon Syndrome" EXACT [] xref: MESH:C536746 is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:987 ! alopecia [Term] id: DOID:9000436 name: Urofacial Syndrome 2 synonym: "UFS2" EXACT [] xref: MIM:615112 is_a: DOID:0050816 ! urofacial syndrome [Term] id: DOID:9000437 name: Astley-Kendall Syndrome synonym: "Astley-Kendall dysplasia" EXACT [] synonym: "Short limbed dwarfism with extensive stippling" EXACT [] xref: MESH:C535392 xref: RDO:0000488 is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome is_a: DOID:2581 ! chondrodysplasia punctata is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9000438 name: Subarachnoid Hemorrhage def: "Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status." [MESH:D013345] synonym: "Aneurysmal Subarachnoid Hemorrhage" EXACT [] synonym: "Aneurysmal Subarachnoid Hemorrhages" EXACT [] synonym: "Intracranial Subarachnoid Hemorrhage" EXACT [] synonym: "Intracranial Subarachnoid Hemorrhages" EXACT [] synonym: "Perinatal Subarachnoid Hemorrhage" EXACT [] synonym: "Perinatal Subarachnoid Hemorrhages" EXACT [] synonym: "SAH (Subarachnoid Hemorrhage)" EXACT [] synonym: "SAHs (Subarachnoid Hemorrhage)" EXACT [] synonym: "Spontaneous Subarachnoid Hemorrhage" EXACT [] synonym: "Spontaneous Subarachnoid Hemorrhages" EXACT [] synonym: "Subarachnoid Hemorrhages" EXACT [] xref: EFO:0000713 xref: MESH:D013345 xref: NCI:C50757 is_a: DOID:9003104 ! Intracranial Hemorrhages [Term] id: DOID:9000439 name: Schizophrenia Spectrum and Other Psychotic Disorders def: "Marked disorders of thought (delusions, hallucinations, or other thought disorder accompanied by disordered affect or behavior), and deterioration from a previous level of functioning. Individuals have one o more of the following symptoms: delusions, hallucinations, and disorganized speech. (from DSM-5)" [MESH:D019967] synonym: "Schizophrenia and Disorders with Psychotic Features" EXACT [] xref: MESH:D019967 xref: RDO:0005104 is_a: DOID:150 ! disease of mental health [Term] id: DOID:9000440 name: Dens in Dente def: "Anomaly of the tooth, found chiefly in upper lateral incisors. It is characterized by invagination of the enamel at the incisal edge." [MESH:D003719] synonym: "Dens in Dentes" EXACT [] xref: MESH:D003719 is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9000441 name: Butyrylcholinesterase Deficiency alt_id: MIM:617936 synonym: "acylcholine acylhydrolase deficiency" EXACT [] synonym: "BCHE*FS126" RELATED [] synonym: "BCHE, Dibucaine-Resistant I" RELATED [] synonym: "BCHE, H VARIANT" RELATED [] synonym: "BCHE, J VARIANT" RELATED [] synonym: "BCHE QUANTITATIVE H VARIANT" RELATED [] synonym: "BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE 1" NARROW [] synonym: "Cholinesterase 2 Deficiency" EXACT [] synonym: "DEFICIENCY OF BUTYRYLCHOLINE ESTERASE" EXACT [] synonym: "postanesthetic apnea" EXACT [] synonym: "Pseudocholinesterase deficiency" EXACT [] synonym: "Pseudocholinesterase E1 deficiency" EXACT [] synonym: "succinylcholine sensitivity" EXACT [] synonym: "suxamethonium sensitivity" EXACT [] xref: MESH:C537417 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9004992 ! Apnea [Term] id: DOID:9000442 name: Familial Thoracic Aortic Aneurysm 10 synonym: "AAT10" EXACT [] synonym: "AORTIC ANEURYSM, FAMILIAL THORACIC 10" EXACT [] synonym: "LOX-RELATED CONDITION" EXACT [] synonym: "LOX-RELATED DISORDER" EXACT [] synonym: "LOX-RELATED DISORDERS" EXACT [] synonym: "thoracic aortic aneurysm-10" EXACT [] synonym: "thoracic aortic aneurysm with or without aortic dissection" EXACT [] xref: MIM:617168 is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:9000443 name: Intellectual Developmental Disorder with Autism and Macrocephaly def: "Characterized by impaired intellectual development, a highly penetrant autism spectrum phenotype, and macrocephaly. Caused by heterozygous mutation in the CHD8 gene on chromosome 14q11." [MIM:615032] synonym: "autism, susceptibility to, 18" RELATED [] synonym: "AUTS18" EXACT [] synonym: "CHD8-RELATED CONDITION" EXACT [] synonym: "IDDAM" EXACT [] xref: MIM:615032 is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:9003816 ! Macrocephaly created_by: mtutaj creation_date: 2022-05-11T16:09:15Z [Term] id: DOID:9000445 name: Azotemia def: "A biochemical abnormality referring to an elevation of BLOOD UREA NITROGEN and CREATININE. Azotemia can be produced by KIDNEY DISEASES or other extrarenal disorders. When azotemia becomes associated with a constellation of clinical signs, it is termed UREMIA." [MESH:D053099] xref: MESH:D053099 is_a: DOID:4676 ! uremia is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9000447 name: Systemic Autoinflammatory Disease with Vasculitis def: "An autosomal dominant disorder that manifests soon after birth with features such as purpuric skin rash, fever, hepatosplenomegaly, and elevated C-reactive protein (CRP). Caused by heterozygous mutation in the LYN gene on chromosome 8q13." [MIM:620376] synonym: "LAVLI syndrome" EXACT [] synonym: "LYN-RELATED CONDITION" EXACT [] synonym: "SAIDV" EXACT [] xref: MIM:620376 is_a: DOID:865 ! vasculitis is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2023-05-30T14:58:18Z [Term] id: DOID:9000448 name: Hyperlipidemia, Combined, 2 alt_id: MIM:604499 synonym: "FCHL2" EXACT [] synonym: "Hyperlipidemia, Familial Combined, 2" EXACT [] synonym: "HYPLIP2" EXACT [] xref: MESH:C565766 is_a: DOID:13809 ! familial combined hyperlipidemia [Term] id: DOID:9000449 name: Foix-Chavany-Marie Syndrome synonym: "anterior opercular syndrome" EXACT [] synonym: "bilateral anterior opercular syndrome" EXACT [] synonym: "congenital Foix-Chavany-Marie syndrome" EXACT [] synonym: "Facio-Labio-Pharyngo-Glosso-Laryngo-Brachial Paralysis" EXACT [] synonym: "Facio-Pharyngo-Glossal Diplegia with Automatic-Voluntary Movement Dissociation" EXACT [] synonym: "pseudobulbar paralysis, cortical type" EXACT [] xref: GARD:2351 xref: MESH:C537069 xref: MONDO:0023171 xref: ORDO:2048 is_a: DOID:13866 ! multiple cranial nerve palsy is_a: DOID:13934 ! facial paralysis is_a: DOID:225 ! syndrome is_a: DOID:9000123 ! Deglutition Disorders is_a: DOID:9001722 ! Dysarthria [Term] id: DOID:9000450 name: Daish Hardman Lamont Syndrome alt_id: MIM:236660 synonym: "Hydrocephalus, tall stature, joint laxity, and kyphoscoliosis" EXACT [] xref: MESH:C535770 is_a: DOID:0060249 ! scoliosis is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:4667 ! kyphosis is_a: DOID:9005077 ! Joint Instability is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9000451 name: Body Remains def: "The physical entity of a deceased human or animal." [MESH:D000071298] synonym: "Animal Remains" EXACT [] synonym: "Human Remains" EXACT [] synonym: "Skeletal Remains" EXACT [] xref: MESH:D000071298 is_a: DOID:9000543 ! Death [Term] id: DOID:9000452 name: Piriformis Muscle Syndrome def: "A chronic PELVIC PAIN characterized by pain deep in the buttock that may radiate to posterior aspects of the leg. It is caused by the piriformis muscle compressing or irritating the SCIATIC NERVE due to trauma, hypertrophy, inflammation or anatomic variations." [MESH:D055958] synonym: "Piriformis Muscle Syndromes" EXACT [] synonym: "Piriformis syndrome" EXACT [] synonym: "Piriformis syndromes" EXACT [] xref: MESH:D055958 is_a: DOID:11446 ! sciatic neuropathy is_a: DOID:225 ! syndrome is_a: DOID:573 ! nerve compression syndrome is_a: DOID:9005968 ! Neuralgia is_a: DOID:9008450 ! Pelvic Pain [Term] id: DOID:9000453 name: Chromosome 3 Duplication Syndrome xref: MESH:C536803 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000454 name: Methylmalonyl-CoA Epimerase Deficiency alt_id: MIM:251120 synonym: "METHYLMALONIC ACIDURIA III" NARROW [] synonym: "METHYLMALONYL-CoA EPIMERASE DEFICIENCY WITH SEPIAPTERIN REDUCTASE DEFICIENCY" NARROW [] synonym: "Methylmalonyl-CoA Racemase Deficiency" EXACT [] xref: MESH:C565386 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9000455 name: Mousa Al din Al Nassar Syndrome alt_id: MIM:271320 synonym: "Bedouin spastic ataxia syndrome" EXACT [] synonym: "SPINOCEREBELLAR DEGENERATION WITH MACULAR CORNEAL DYSTROPHY, CONGENITAL CATARACTS, AND MYOPIA" EXACT [] xref: MESH:C536989 is_a: DOID:11830 ! myopia is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy is_a: DOID:83 ! cataract is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:9000456 name: Dysgeusia def: "A condition characterized by alterations of the sense of taste which may range from mild to severe, including gross distortions of taste quality." [MESH:D004408] synonym: "Altered Taste" EXACT [] synonym: "Distorted Taste" EXACT [] synonym: "Dysgeusias" EXACT [] synonym: "Parageusia" EXACT [] synonym: "Parageusias" EXACT [] xref: MESH:D004408 is_a: DOID:9001661 ! Taste Disorders [Term] id: DOID:9000457 name: Germ Cell and Embryonal Neoplasms def: "Neoplasms composed of primordial GERM CELLS of embryonic GONADS or of elements of the germ layers of the EMBRYO, MAMMALIAN. The concept does not refer to neoplasms located in the gonads or present in an embryo or FETUS." [MESH:D009373] synonym: "embryonal neoplasm" NARROW [] synonym: "Embryonal Neoplasms" NARROW [] synonym: "embryo neoplasm" NARROW [] synonym: "germ cell and embryonal neoplasm" EXACT [] synonym: "Germ Cell and Embryonic Neoplasms" EXACT [] synonym: "germ cell neoplasm" NARROW [CSP2005:2016-0850] synonym: "Germ Cell Neoplasms" NARROW [] synonym: "Germ Cell Tumor" NARROW [] synonym: "Germ Cell Tumors" NARROW [] synonym: "germ cell tumour" NARROW [SNOMEDCT_2005_07_31:28307001] synonym: "Neoplasms, Embryonal and Mixed" EXACT [] xref: MESH:D009373 is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9000458 name: Rickettsiaceae Infections def: "Infections with bacteria of the family RICKETTSIACEAE." [MESH:D012288] synonym: "Rickettsiaceae Infection" EXACT [] synonym: "Rickettsialpox" EXACT [] xref: EFO:1001128 xref: MESH:D012288 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9000459 name: Acholinesterasemia xref: MESH:C566750 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9000460 name: Diaphragmatic Hernia 3 alt_id: MIM:610187 synonym: "DIH3" EXACT [] xref: MESH:C565710 is_a: DOID:3827 ! congenital diaphragmatic hernia [Term] id: DOID:9000461 name: Hutchinson's Melanotic Freckle def: "A cellular subtype of malignant melanoma. It is a pigmented lesion composed of melanocytes occurring on sun-exposed skin, usually the face and neck. The melanocytes are commonly multinucleated with a 'starburst' appearance. It is considered by many to be the in situ phase of lentigo maligna melanoma." [MESH:D018327] synonym: "Hutchinson Melanotic Freckle" EXACT [] synonym: "Hutchinsons Melanotic Freckle" EXACT [] synonym: "Lentigo Maligna" EXACT [] synonym: "Malignant Lentigo" EXACT [] synonym: "Malignant Lentigos" EXACT [] synonym: "Melanotic Freckle" EXACT [] synonym: "Melanotic Freckles" EXACT [] xref: MESH:D018327 xref: RDO:0007185 is_a: DOID:1909 ! melanoma [Term] id: DOID:9000462 name: Giant Axonal Neuropathy alt_id: RDO:0007756 def: "Rare disorder of INTERMEDIATE FILAMENT PROTEINS. The disease is caused by mutations in the gene that codes gigaxonin protein. The mutations result in disorganization of axonal NEUROFILAMENT PROTEINS, formation of the characteristic giant axons, and progressive neuropathy. The clinical features of the disease include early-onset progressive peripheral motor and sensory neuropathies often associated with central nervous system involvement (INTELLECTUAL DISABILITY, seizures, DYSMETRIA, and CONGENITAL NYSTAGMUS)." [MESH:D056768] synonym: "GAN" EXACT [] synonym: "Giant Axonal Neuropathy (GAN)" EXACT [] xref: MESH:D056768 xref: MIM:PS256850 xref: NCI:C84728 is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:7319 ! axonal neuropathy [Term] id: DOID:9000463 name: Neurodevelopmental Disorder with Seizures and Speech and Walking Impairment def: "An autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature." [MIM:618480] synonym: "DHPS-RELATED CONDITION" EXACT [] synonym: "NEDSSWI" EXACT [] xref: MIM:618480 is_a: DOID:1826 ! epilepsy is_a: DOID:9002563 ! Gait Ataxia is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders created_by: slaulede creation_date: 2019-08-06T10:12:19Z [Term] id: DOID:9000464 name: Desulfovibrionaceae Infections def: "Infections with bacteria of the family Desulfovibrionaceae." [MESH:D045824] synonym: "Bilophila Infection" EXACT [] synonym: "Bilophila Infections" EXACT [] synonym: "Desulfovibrio Infection" EXACT [] synonym: "Desulfovibrio Infections" EXACT [] synonym: "Desulfovibrionaceae Infection" EXACT [] synonym: "Lawsonia Infection" EXACT [] synonym: "Lawsonia Infections" EXACT [] xref: EFO:1000875 xref: MESH:D045824 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9000465 name: Coinfection def: "Simultaneous infection of a host organism by two or more pathogens. In virology, coinfection commonly refers to simultaneous infection of a single cell by two or more different viruses." [MESH:D060085] synonym: "Co infection" EXACT [] synonym: "Coinfections" EXACT [] synonym: "co-infections" EXACT [] synonym: "Mixed Infection" EXACT [] synonym: "Mixed Infections" EXACT [] synonym: "Polymicrobial Infection" EXACT [] synonym: "Polymicrobial Infections" EXACT [] synonym: "Secondary Infection" EXACT [] synonym: "secondary infections" EXACT [] xref: EFO:0010716 xref: MESH:D060085 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9000466 name: Prostate Cancer, Somatic def: "Tumors or cancer of the prostate caused by somatic mutations." [] xref: RDO:9000712 is_a: DOID:10283 ! prostate cancer [Term] id: DOID:9000467 name: Marden-Walker Syndrome alt_id: MIM:248700 synonym: "Blepharophimosis, micrognathia, immobile facies, kyphoscoliosis, limb contractures, pigeon breast, and arachnodactyly" EXACT [] synonym: "Connective Tissue Disorder, Marden-Walker Type" EXACT [] synonym: "Generalized connective tissue syndrome" EXACT [] synonym: "MWKS" EXACT [] synonym: "MWS" EXACT [] xref: MESH:C535910 is_a: DOID:10348 ! blepharophimosis is_a: DOID:225 ! syndrome is_a: DOID:65 ! connective tissue disease is_a: DOID:9005367 ! Arachnodactyly is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000468 name: Sucrosuria, Hiatus Hernia and Mental Retardation alt_id: MIM:272000 synonym: "SUCROSURIA, HIATUS HERNIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT [] xref: MESH:C564792 is_a: DOID:1059 ! intellectual disability is_a: DOID:12642 ! hiatus hernia [Term] id: DOID:9000469 name: Viral Myocarditis def: "An uncommon inflammatory disorder of the myocardium caused by a virus." [] synonym: "chronic viral myocarditis" NARROW [] synonym: "CVMC" NARROW [] synonym: "VMC" EXACT [] is_a: DOID:820 ! myocarditis is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9000470 name: Echogenic Bowel def: "A PRENATAL ULTRASONOGRAPHY finding of excessively dense fetal bowel due to MECONIUM buildup." [MESH:D058535] synonym: "Echogenic Bowels" EXACT [] synonym: "Hyperechogenic Bowel" EXACT [] synonym: "Hyperechogenic Bowels" EXACT [] xref: MESH:D058535 is_a: DOID:9001984 ! Fetal Diseases [Term] id: DOID:9000471 name: Vibrio Vulnificus Infection xref: MESH:C536348 is_a: DOID:9001564 ! Vibrio Infections [Term] id: DOID:9000472 name: Disproportionate Short Stature with Ptosis and Valvular Heart Lesions alt_id: MIM:126190 xref: MESH:C565094 is_a: DOID:0060260 ! ptosis is_a: DOID:4079 ! heart valve disease is_a: DOID:9001487 ! Facies is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9000473 name: Familial Visceral Neuropathy xref: MIM:PS243180 is_a: DOID:870 ! neuropathy created_by: mtutaj creation_date: 2022-10-11T07:50:51Z [Term] id: DOID:9000474 name: Hashimoto's Encephalitis synonym: "Autoimmune encephalitis" EXACT [] synonym: "Hashimoto's encephalopathy" EXACT [] synonym: "Steroid-responsive encephalopathy associated with autoimmune thyroiditis" EXACT [] xref: MESH:C535841 is_a: DOID:9007355 ! Hashimoto Disease is_a: DOID:9588 ! encephalitis [Term] id: DOID:9000475 name: REM Sleep Parasomnias def: "Abnormal behavioral or physiologic events that are associated with REM sleep, including REM SLEEP BEHAVIOR DISORDER." [MESH:D020923] synonym: "Rapid Eye Movement Sleep Parasomnias" EXACT [] synonym: "REM Sleep Parasomnia" EXACT [] synonym: "REM Sleep Related Sinus Arrest" EXACT [] synonym: "Sleep-Related Painful Erection" EXACT [] synonym: "Sleep Related Painful Erections" EXACT [] xref: MESH:D020923 is_a: DOID:9004040 ! Parasomnias [Term] id: DOID:9000476 name: Acrootoocular Syndrome synonym: "pseudopapilledema-blepharophimosis-hand anomalies syndrome" EXACT [] synonym: "Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, and Hand Anomalies" EXACT [] xref: GARD:4559 xref: MESH:C564866 xref: MIM:264475 xref: MONDO:0009920 xref: ORDO:2980 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10348 ! blepharophimosis is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9000477 name: Endocrine Tuberculosis alt_id: RDO:0006761 def: "Infection of the ENDOCRINE GLANDS with species of MYCOBACTERIUM, most often MYCOBACTERIUM TUBERCULOSIS." [MESH:D014383] synonym: "Endocrine Tuberculoses" EXACT [] xref: EFO:1000917 xref: MESH:D014383 is_a: DOID:28 ! endocrine system disease is_a: DOID:399 ! tuberculosis [Term] id: DOID:9000478 name: Glaucoma 1, Open Angle, C alt_id: MIM:601682 synonym: "GLC1C" EXACT [] synonym: "primary open angle glaucoma 1, C" EXACT [] xref: MESH:C566641 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9000481 name: Spinal Muscular Atrophy with Microcephaly and Mental Subnormality alt_id: MIM:271110 xref: MESH:C564806 is_a: DOID:0060160 ! childhood spinal muscular atrophy is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly [Term] id: DOID:9000482 name: Tarlov Cysts def: "Perineurial cysts commonly found in the SACRAL REGION. They arise from the PERINEURIUM membrane within the SPINAL NERVE ROOTS. The distinctive feature of the cysts is the presence of spinal nerve root fibers within the cyst wall, or the cyst cavity itself." [MESH:D052958] synonym: "Perineural Cyst" EXACT [] synonym: "Perineural Cysts" EXACT [] synonym: "Perineurial Cyst" EXACT [] synonym: "Perineurial Cysts" EXACT [] synonym: "Sacral Perineural Cyst" EXACT [] synonym: "Sacral Perineural Cysts" EXACT [] synonym: "Sacral Tarlov Cysts" EXACT [] xref: EFO:1001858 xref: MESH:D052958 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:9000483 name: Angina Pectoris def: "The symptom of paroxysmal pain consequent to MYOCARDIAL ISCHEMIA usually of distinctive character, location and radiation. It is thought to be provoked by a transient stressful situation during which the oxygen requirements of the MYOCARDIUM exceed that supplied by the CORONARY CIRCULATION." [MESH:D000787] synonym: "Angor Pectoris" EXACT [] synonym: "Stenocardia" EXACT [] synonym: "Stenocardias" EXACT [] xref: EFO:0003913 xref: MESH:D000787 is_a: DOID:9003674 ! Chest Pain is_a: DOID:9007102 ! Myocardial Ischemia [Term] id: DOID:9000484 name: Consciousness Disorders def: "Organic mental disorders in which there is impairment of the ability to maintain awareness of self and environment and to respond to environmental stimuli. Dysfunction of the cerebral hemispheres or brain stem RETICULAR FORMATION may result in this condition." [MESH:D003244] synonym: "Altered Level of Consciousness" EXACT [] synonym: "Consciousness Disorder" EXACT [] synonym: "Consciousness, Level Altered" EXACT [] synonym: "Consciousness, Level Depressed" EXACT [] synonym: "Depressed Level of Consciousness" EXACT [] synonym: "Semiconsciousness" EXACT [] xref: MESH:D003244 is_a: DOID:1561 ! cognitive disorder is_a: DOID:9002320 ! Neurobehavioral Manifestations [Term] id: DOID:9000485 name: Chromosome Xq21 Deletion Syndrome synonym: "choroideremia, deafness, and mental retardation" EXACT [] synonym: "choroideremia-deafness-obesity syndrome" EXACT [] synonym: "Xq21 deletion syndrome" EXACT [] xref: MIM:303110 xref: MONDO:0010558 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: mtutaj creation_date: 2021-08-25T13:27:20Z [Term] id: DOID:9000486 name: Nanophthalmos 1 alt_id: MIM:600165 synonym: "Microphthalmos, Simple, Autosomal Dominant" EXACT [] synonym: "Nanophthalmia 1" EXACT [] synonym: "Nanophthalmos, Autosomal Dominant" EXACT [] synonym: "Nanophthalmos with High Hyperopia and Angle-Closure Glaucoma" EXACT [] synonym: "NNO1" EXACT [] xref: MESH:C563983 is_a: DOID:0080634 ! nanophthalmos is_a: DOID:13550 ! angle-closure glaucoma is_a: DOID:9834 ! hyperopia [Term] id: DOID:9000487 name: Infra-Auricular Cutaneous Creases with Tall Stature and Advanced Bone Age alt_id: MIM:602472 xref: MESH:C566543 is_a: DOID:9001487 ! Facies is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9000488 name: Progeria Syndrome, Childhood-Onset synonym: "Hutchinson-Gilford progeria syndrome, childhood-onset" EXACT [] xref: MESH:C567661 is_a: DOID:3911 ! progeria [Term] id: DOID:9000489 name: Diffuse Axonal Injury def: "A relatively common sequela of blunt head injury, characterized by a global disruption of axons throughout the brain. Associated clinical features may include NEUROBEHAVIORAL MANIFESTATIONS; PERSISTENT VEGETATIVE STATE; DEMENTIA; and other disorders." [MESH:D020833] synonym: "DAI (Diffuse Axonal Injury)" EXACT [] synonym: "Diffuse Axonal Injuries" EXACT [] xref: MESH:D020833 is_a: DOID:9004442 ! Diffuse Brain Injuries [Term] id: DOID:9000490 name: Chromosome 18, Trisomy 18p synonym: "Duplication 18p" EXACT [] synonym: "Trisomy 18p" EXACT [] xref: MESH:C538307 xref: MONDO:0015740 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000492 name: Familial Isolated Hypoparathyroidism 1 synonym: "FIH1" EXACT [] xref: MIM:146200 is_a: DOID:0111387 ! familial isolated hypoparathyroidism created_by: mtutaj creation_date: 2020-05-15T11:15:51Z [Term] id: DOID:9000493 name: Menke-Hennekam Syndrome 2 def: "Menke-Hennekam syndrome-2 (MKHK2) is a congenital disorder characterized by variable impairment of intellectual development and facial dysmorphisms. Feeding difficulties, autistic behavior, recurrent upper airway infections, and hearing impairment are also frequently seen. (OMIM)" [] synonym: "MKHK2" EXACT [] xref: EFO:0010253 xref: MIM:618333 is_a: DOID:9008706 ! Menke-Hennekam Syndrome created_by: mtutaj creation_date: 2019-02-25T12:23:39Z [Term] id: DOID:9000494 name: Santos Mateus Leal Syndrome synonym: "Hirschsprung disease, deafness and polydactyly" EXACT [] xref: MESH:C537235 is_a: DOID:0060140 ! cortical deafness is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome is_a: DOID:9003133 ! Hypertelorism [Term] id: DOID:9000495 name: Tremor def: "Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE." [MESH:D014202] synonym: "Action Tremor" EXACT [] synonym: "Action Tremors" EXACT [] synonym: "Coarse Tremor" EXACT [] synonym: "Coarse Tremors" EXACT [] synonym: "Continuous Tremor" EXACT [] synonym: "Continuous Tremors" EXACT [] synonym: "Darkness Tremor" EXACT [] synonym: "Darkness Tremors" EXACT [] synonym: "Fine Tremor" EXACT [] synonym: "Fine Tremors" EXACT [] synonym: "Intention Tremor" EXACT [] synonym: "Intention Tremors" EXACT [] synonym: "Intermittent Tremor" EXACT [] synonym: "Intermittent Tremors" EXACT [] synonym: "Involuntary Quiver" EXACT [] synonym: "Involuntary Quivers" EXACT [] synonym: "Limb Tremor" EXACT [] synonym: "Limb Tremors" EXACT [] synonym: "Massive Tremor" EXACT [] synonym: "Massive Tremors" EXACT [] synonym: "Muscle Tremor" EXACT [] synonym: "Muscle Tremors" EXACT [] synonym: "Neonatal Tremor" EXACT [] synonym: "Neonatal Tremors" EXACT [] synonym: "Nerve Tremor" EXACT [] synonym: "Nerve Tremors" EXACT [] synonym: "Passive Tremor" EXACT [] synonym: "Passive Tremors" EXACT [] synonym: "Perioral Tremor" EXACT [] synonym: "Perioral Tremors" EXACT [] synonym: "Persistent Tremor" EXACT [] synonym: "Persistent Tremors" EXACT [] synonym: "Pill Rolling Tremor" EXACT [] synonym: "Pill Rolling Tremors" EXACT [] synonym: "Resting Tremor" EXACT [] synonym: "Resting Tremors" EXACT [] synonym: "Rest Tremor" EXACT [] synonym: "Rest Tremors" EXACT [] synonym: "Saturnine Tremor" EXACT [] synonym: "Saturnine Tremors" EXACT [] synonym: "Semirhythmic Tremor" EXACT [] synonym: "Semirhythmic Tremors" EXACT [] synonym: "Senile Tremor" EXACT [] synonym: "Senile Tremors" EXACT [] synonym: "Static Tremor" EXACT [] synonym: "Static Tremors" EXACT [] synonym: "Tremors" EXACT [] xref: MESH:D014202 is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9000496 name: Illusions def: "The misinterpretation of a real external, sensory experience." [MESH:D007088] synonym: "Auditory Illusion" EXACT [] synonym: "Auditory Illusions" EXACT [] synonym: "Autokinetic Effect" EXACT [] synonym: "Autokinetic Effects" EXACT [] synonym: "Autokinetic Illusion" EXACT [] synonym: "Autokinetic Illusions" EXACT [] synonym: "Illusion" EXACT [] synonym: "Kinesthetic Illusion" EXACT [] synonym: "Kinesthetic Illusions" EXACT [] synonym: "Tactile Illusion" EXACT [] synonym: "Tactile Illusions" EXACT [] synonym: "Visual Illusion" EXACT [] synonym: "Visual Illusions" EXACT [] xref: MESH:D007088 is_a: DOID:9004523 ! Perceptual Disorders [Term] id: DOID:9000497 name: Dilated Cardiomyopathy with Left Ventricular Noncompaction synonym: "Left ventricular noncompaction cardiomyopathy" EXACT [] xref: MESH:C565277 is_a: DOID:0060480 ! left ventricular noncompaction is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:9000498 name: Emaciation def: "Clinical manifestation of excessive LEANNESS usually caused by disease or a lack of nutrition (MALNUTRITION)." [MESH:D004614] synonym: "Emaciations" EXACT [] xref: MESH:D004614 is_a: DOID:9001981 ! Weight Loss [Term] id: DOID:9000499 name: Alcoholic Intoxication def: "An acute brain syndrome which results from the excessive ingestion of ETHANOL or ALCOHOLIC BEVERAGES." [MESH:D000435] synonym: "Drunkenness" EXACT [] synonym: "Drunkennesses" EXACT [] xref: MESH:D000435 is_a: DOID:9004354 ! Alcohol-Related Disorders [Term] id: DOID:9000501 name: Torovirus Infections def: "Infections with viruses of the genus TOROVIRUS, family CORONAVIRIDAE." [MESH:D018176] synonym: "Torovirus Infection" EXACT [] synonym: "Torovirus infectious disease" EXACT [] xref: EFO:0007514 xref: MESH:D018176 is_a: DOID:9001645 ! Coronaviridae Infections [Term] id: DOID:9000502 name: DK Phocomelia Syndrome alt_id: MIM:223340 synonym: "Phocomelia, Thrombocytopenia, Encephalocele, Urogenital Malformations" EXACT [] synonym: "Von Voss-Cherstvoy Syndrome" EXACT [] xref: MESH:C565618 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia is_a: DOID:9000983 ! Encephalocele is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000503 name: Nasal Obstruction def: "Any hindrance to the passage of air into and out of the nose. The obstruction may be unilateral or bilateral, and may involve any part of the NASAL CAVITY." [MESH:D015508] synonym: "Bilateral Nasal Obstruction" EXACT [] synonym: "Nasal Airway Obstruction" EXACT [] synonym: "Nasal Blockage" EXACT [] synonym: "Nasal Blockages" EXACT [] synonym: "Nasal Obstructions" EXACT [] synonym: "Unilateral Nasal Obstruction" EXACT [] xref: MESH:D015508 is_a: DOID:2825 ! nose disease is_a: DOID:9005700 ! Airway Obstruction [Term] id: DOID:9000504 name: Beta-Amino Acids, Renal Transport of synonym: "AABT" EXACT [] synonym: "TAURINE RENAL REABSORPTION" EXACT [] xref: MIM:109660 xref: RDO:0007892 is_a: DOID:14250 ! Down syndrome is_a: DOID:1826 ! epilepsy [Term] id: DOID:9000505 name: Intellectual Developmental Disorder with Dysmorphic Facies, Seizures, and Distal Limb Anomalies def: "An autosomal recessive severe multisystem disorder characterized by poor overall growth, developmental delay, early-onset seizures, intellectual disability, and dysmorphic features. (OMIM)" [] synonym: "IDDFSDA" EXACT [] synonym: "OTUD6B-RELATED CONDITION" EXACT [] xref: MIM:617452 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:9001487 ! Facies is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000506 name: Lactate Dehydrogenase Deficiency synonym: "ABNORMAL LACTATE DEHYDROGENASE LEVEL" BROAD [] synonym: "Deficiency of Lactate Dehydrogenase" EXACT [] synonym: "Lactate Dehydrogenase Subunit Deficiencies" EXACT [] synonym: "Ldh Deficiency" EXACT [] xref: MESH:C580233 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9000507 name: Sacral Hemangiomas Multiple Congenital Abnormalities xref: MESH:C537222 xref: RDO:0003012 is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome [Term] id: DOID:9000508 name: Isolated Microphthalmia with Cataract 3 synonym: "congenital cataract with microcornea and microphthalmia" EXACT [] synonym: "MCOPCT3" EXACT [] synonym: "microphthalmia and cataract 3" EXACT [] xref: MESH:C564452 is_a: DOID:0080637 ! isolated microphthalmia is_a: DOID:83 ! cataract [Term] id: DOID:9000510 name: Leigh Syndrome due to Mitochondrial Complex II Deficiency xref: MESH:C564961 is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9000511 name: Senior-Loken Syndrome 4 synonym: "SLSN4" EXACT [] xref: MESH:C537581 xref: MIM:606996 xref: MONDO:0011756 is_a: DOID:0050576 ! Senior-Loken syndrome is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9000512 name: Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Hypomyelination def: "NEDMEHM is caused by compound heterozygous mutation in the MTHFS gene on chromosome 15q25. (OMIM)" [] synonym: "MTHFS-RELATED CONDITION" EXACT [] synonym: "NEDMEHM" EXACT [] xref: MIM:618367 xref: MONDO:0032705 is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases created_by: gthayman creation_date: 2019-03-28T15:19:30Z [Term] id: DOID:9000514 name: Atrial Premature Complexes def: "A type of cardiac arrhythmia with premature atrial contractions or beats caused by signals originating from ectopic atrial sites. The ectopic signals may or may not conduct to the HEART VENTRICLES. Atrial premature complexes are characterized by premature P waves on ECG which are different in configuration from the P waves generated by the normal pacemaker complex in the SINOATRIAL NODE." [MESH:D018880] synonym: "Atrial Ectopic Beat" EXACT [] synonym: "Atrial Ectopic Beats" EXACT [] synonym: "Atrial Extrasystole" EXACT [] synonym: "Atrial Extrasystoles" EXACT [] synonym: "Atrial Premature Complex" EXACT [] synonym: "Atrial Premature Complices" EXACT [] synonym: "Premature Atrial Beat" EXACT [] synonym: "Premature Atrial Beats" EXACT [] synonym: "Premature Atrial Contraction" EXACT [] synonym: "Premature Atrial Contractions" EXACT [] synonym: "Premature Supraventricular Beat" EXACT [] synonym: "Premature Supraventricular Beats" EXACT [] synonym: "supraventricular ectopy" EXACT [] xref: EFO:0009277 xref: MESH:D018880 xref: RDO:0007240 is_a: DOID:9002737 ! Premature Cardiac Complexes [Term] id: DOID:9000515 name: Ichthyosis, Spastic Quadriplegia, and Mental Retardation synonym: "Ichthyosis, spastic quadriplegia, and impaired intellectual development" EXACT [] synonym: "ISQMR" EXACT [] xref: MIM:614457 is_a: DOID:1059 ! intellectual disability is_a: DOID:12835 ! quadriplegia is_a: DOID:1697 ! ichthyosis [Term] id: DOID:9000516 name: Lachiewicz Sibley Syndrome synonym: "Hereditary renal disease and preauricular pits" EXACT [] xref: MESH:C538131 is_a: DOID:225 ! syndrome is_a: DOID:2742 ! auditory system disease is_a: DOID:557 ! kidney disease is_a: DOID:9007343 ! Fistula [Term] id: DOID:9000517 name: Proteus Infections def: "Infections with bacteria of the genus PROTEUS." [MESH:D011512] synonym: "Proteus Infection" EXACT [] synonym: "Proteus infectious disease" EXACT [] xref: EFO:1001130 xref: MESH:D011512 is_a: DOID:9003491 ! Enterobacteriaceae Infections [Term] id: DOID:9000518 name: Parasitemia def: "The presence of parasites (especially malarial parasites) in the blood. (Dorland, 27th ed)" [MESH:D018512] synonym: "parasitemias" EXACT [] xref: MESH:D018512 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:9004484 ! Sepsis [Term] id: DOID:9000519 name: Chromosome 6, Trisomy 6q synonym: "Duplication 6q" EXACT [] synonym: "Trisomy 6q" EXACT [] xref: MESH:C537812 xref: RDO:0003716 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000520 name: Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial alt_id: MIM:261650 synonym: "PCK2 deficiency" EXACT [] synonym: "PCK2-RELATED CONDITION" EXACT [] synonym: "PCK2-RELATED NEUROPATHY" NARROW [] synonym: "PEPCK2 deficiency" EXACT [] synonym: "Phosphoenolpyruvate Carboxykinase 2 Deficiency" EXACT [] xref: MESH:C564890 is_a: DOID:3649 ! pyruvate decarboxylase deficiency is_a: DOID:9003263 ! Phosphoenolpyruvate Carboxykinase Deficiency [Term] id: DOID:9000522 name: Invasive Candidiasis def: "An important nosocomial fungal infection with species of the genus CANDIDA, most frequently CANDIDA ALBICANS. Invasive candidiasis occurs when candidiasis goes beyond a superficial infection and manifests as CANDIDEMIA, deep tissue infection, or disseminated disease with deep organ involvement." [MESH:D058365] synonym: "Invasive Candidiases" EXACT [] xref: EFO:1001283 xref: MESH:D058365 is_a: DOID:1508 ! candidiasis is_a: DOID:9006058 ! Invasive Fungal Infections [Term] id: DOID:9000523 name: Generalized Epidermolysis Bullosa Simplex 1B synonym: "EBS1B" EXACT [] synonym: "Epidermolysis Bullosa Simplex Kobner" EXACT [] synonym: "Epidermolysis Bullosa Simplex, Koebner Type" EXACT [] synonym: "generalized intermediate epidermolysis bullosa simplex 1B" EXACT [] xref: MIM:131900 is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type created_by: mtutaj creation_date: 2021-10-27T16:14:38Z [Term] id: DOID:9000524 name: Generalized Arterial Calcification of Infancy, 2 synonym: "GACI2" EXACT [] xref: MIM:614473 xref: MONDO:0013768 is_a: DOID:0050644 ! arterial calcification of infancy [Term] id: DOID:9000525 name: Congenital Myopathy 11 def: "An autosomal recessive skeletal muscle disorder characterized clinically by severe hypotonia apparent at birth, resulting in early feeding problems, motor delay, and walking difficulties. Caused by homozygous or compound heterozygous mutation in the HACD1 gene on chromosome 10p12." [MIM:619967] synonym: "CMYO11" EXACT [] synonym: "CMYP11" EXACT [] synonym: "MYONP" EXACT [] synonym: "Nonprogressive Congenital Myopathy" EXACT [] xref: MIM:619967 xref: MONDO:0859264 is_a: DOID:0081337 ! congenital myopathy created_by: mtutaj creation_date: 2022-07-27T14:16:51Z [Term] id: DOID:9000526 name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES def: "This disease is characterized by global developmental delay apparent from early childhood with intellectual disability." [MIM:619475] synonym: "DDISBA" EXACT [] synonym: "SPTBN1-RELATED CONDITION" EXACT [] xref: MIM:619475 is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:92 ! speech disorder created_by: slaulede creation_date: 2021-10-18T14:18:18Z [Term] id: DOID:9000527 name: Tracheal Agenesis synonym: "Congenital tracheal agenesis" EXACT [] synonym: "Congenital tracheal stenosis" EXACT [] xref: MESH:C536975 is_a: DOID:9001627 ! Pathologic Constriction [Term] id: DOID:9000528 name: Coronary Disease alt_id: MIM:300464 alt_id: MIM:607339 alt_id: MIM:608316 alt_id: MIM:608318 alt_id: MIM:608901 alt_id: MIM:610938 alt_id: MIM:611139 alt_id: MIM:612030 alt_id: MIM:614466 def: "An imbalance between myocardial functional requirements and the capacity of the CORONARY VESSELS to supply sufficient blood flow. It is a form of MYOCARDIAL ISCHEMIA (insufficient blood supply to the heart muscle) caused by a decreased capacity of the coronary vessels." [MESH:D003327] synonym: "CHD" EXACT [] synonym: "CHDS1" RELATED [] synonym: "CHDS2" RELATED [] synonym: "CHDS3" RELATED [] synonym: "CHDS4" RELATED [] synonym: "CHDS5" RELATED [] synonym: "CHDS6" RELATED [] synonym: "CHDS7" RELATED [] synonym: "CHDS8" RELATED [] synonym: "CHDS9" RELATED [] synonym: "chronic coronary heart disease" NARROW [] synonym: "CORONARY ARTERY DISEASE, EARLY-ONSET" NARROW [] synonym: "Coronary artery disease, susceptibility to" RELATED [] synonym: "Coronary Diseases" EXACT [] synonym: "coronary heart disease" EXACT [] synonym: "Coronary heart disease in familial hypercholesterolemia, protection against" RELATED [] synonym: "coronary heart diseases" EXACT [] synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 2" RELATED [] synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 3" RELATED [] synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 4" RELATED [] synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 5" RELATED [] synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 6" RELATED [] synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 7" RELATED [] synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 8" RELATED [] synonym: "CORONARY HEART DISEASE, SUSCEPTIBILITY TO, 9" RELATED [] synonym: "THREE VESSEL CORONARY DISEASE" NARROW [] xref: MESH:D003327 is_a: DOID:9007102 ! Myocardial Ischemia [Term] id: DOID:9000529 name: Humeral Fractures def: "Fractures of the HUMERUS." [MESH:D006810] synonym: "Humeral Fracture" EXACT [] xref: EFO:0003943 xref: MESH:D006810 xref: RDO:0005818 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9003309 ! Arm Injuries [Term] id: DOID:9000530 name: ENDOVE SYNDROME, LIMB-BRAIN TYPE def: "This is a disease characterized by marked mesomelic shortening of the lower limbs due to severe hypoplasia of the tibia and fibula. The talus is absent and foot bones are rudimentary. Hands have four short, malformed fingers, and nails are absent on some fingers. In addition, there is cerebellar aplasia with hypoplasia of the brain stem." [MIM:619218] synonym: "EN1 SYNDROME" EXACT [] synonym: "ENDOVESLB" EXACT [] synonym: "Limb-brain ENDOVE syndrome" EXACT [] synonym: "MESOMELIA OF LOWER EXTREMITIES WITH HAND, FOOT, AND BRAIN ANOMALIES" EXACT [] synonym: "MLEHFB" EXACT [] xref: MIM:619218 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006294 ! Congenital Limb Deformities created_by: slaulede creation_date: 2021-04-08T12:01:30Z [Term] id: DOID:9000531 name: Chromosome 18, Trisomy 18q def: "Duplication of the long (q) arm of chromosome 18. Affected children may have various abnormalities that include intra-uterine growth retardation, craniofacial abnormalities, heart malformations; and psychomotor delay." [MESH:C538308] synonym: "Duplication 18q" EXACT [] synonym: "Trisomy 18q" EXACT [] xref: MESH:C538308 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000533 name: Chronic Motor Tics xref: MESH:C563241 is_a: DOID:11119 ! Gilles de la Tourette syndrome [Term] id: DOID:9000535 name: Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 synonym: "HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 2/ENTEROPATHY SYNDROME" EXACT [] synonym: "PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE" EXACT [] synonym: "PDP, AUTOSOMAL RECESSIVE" EXACT [] synonym: "PHOAR2" EXACT [] synonym: "PHOAR2E" EXACT [] synonym: "PHOAR2-ENTEROPATHY SYNDROME" EXACT [] xref: MIM:614441 is_a: DOID:14283 ! primary hypertrophic osteoarthropathy [Term] id: DOID:9000539 name: Cleft Palate, Proliferative Retinopathy, and Developmental Delay synonym: "CPPRDD" EXACT [] xref: MIM:619074 is_a: DOID:13207 ! proliferative diabetic retinopathy is_a: DOID:674 ! cleft palate is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2020-11-02T09:37:00Z [Term] id: DOID:9000540 name: HIV Wasting Syndrome def: "Involuntary weight loss of greater than 10 percent associated with intermittent or constant fever and chronic diarrhea or fatigue for more than 30 days in the absence of a defined cause other than HIV infection. A constant feature is major muscle wasting with scattered myofiber degeneration. A variety of etiologies, which vary among patients, contributes to this syndrome. (From Harrison's Principles of Internal Medicine, 13th ed, p1611)." [MESH:D019247] synonym: "AIDS Wasting Syndrome" EXACT [] synonym: "HIV Wasting Disease" EXACT [] synonym: "Slim Disease" EXACT [] xref: EFO:0007312 xref: MESH:D019247 is_a: DOID:225 ! syndrome is_a: DOID:526 ! human immunodeficiency virus infectious disease is_a: DOID:9001726 ! Wasting Syndrome [Term] id: DOID:9000541 name: Chondrodysplasia Calcificans Metaphysealis alt_id: MIM:215050 xref: MESH:C565855 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9000542 name: Animal Lameness def: "A departure from the normal gait in animals." [MESH:D007794] synonym: "Animal gait disorder" EXACT [] synonym: "Animal gait disorders" EXACT [] synonym: "Animal lamenesses" EXACT [] xref: MESH:D007794 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9000543 name: Death def: "Irreversible cessation of all bodily functions, manifested by absence of spontaneous breathing and total loss of cardiovascular and cerebral functions." [MESH:D003643] synonym: "Cardiac Death" NARROW [] synonym: "death by undetermined cause" NARROW [] synonym: "death from disease" NARROW [] synonym: "DEATH IN EARLY ADULTHOOD" NARROW [] synonym: "Determination of Death" RELATED [] synonym: "Near-Death Experience" RELATED [] xref: EFO:0009434 xref: EFO:0030050 xref: EFO:0030051 xref: MESH:D003643 xref: RDO:0004928 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9000544 name: Enamel Hypoplasia, Cataracts, and Aqueductal Stenosis alt_id: MIM:600907 xref: MESH:C563430 is_a: DOID:10908 ! hydrocephalus is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:83 ! cataract [Term] id: DOID:9000545 name: Ectromelia def: "Gross hypo- or aplasia of one or more long bones of one or more limbs. The concept includes amelia, hemimelia, phocomelia, and sirenomelia." [MESH:D004480] synonym: "Amelia" EXACT [] synonym: "Fused Legs and Feet" EXACT [] synonym: "Hemimelia" EXACT [] synonym: "Mermaid Malformation" EXACT [] synonym: "Mermaid Syndrome" EXACT [] synonym: "Phocomelia" EXACT [] synonym: "Sirenomelia" EXACT [] synonym: "Sirenomelia Sequence" EXACT [] synonym: "sirenomelia sequences" EXACT [] synonym: "sirenomelus" EXACT [] xref: MESH:D004480 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9000547 name: CEBALID Syndrome def: "A complex developmental disorder characterized by global developmental delay, variably impaired intellectual development, and craniofacial and structural brain abnormalities. Brain imaging shows crowding of the posterior fossa, including rhombencephalosynapsis (partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres), as well as perisylvian polymicrogyria and cerebellar hypoplasia/dysplasia." [MIM:618774] synonym: "CEBALID" EXACT [] synonym: "craniofacial defects, dysmorphic ears, structural brain abnormalities, expressive language delay, and impaired intellectual development" EXACT [] synonym: "MCTT" EXACT [] synonym: "MN1 C-terminal truncation syndrome" EXACT [] synonym: "MN1-RELATED CONDITION" BROAD [] xref: MIM:618774 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulede creation_date: 2020-03-12T17:37:30Z [Term] id: DOID:9000548 name: Drug-induced Anemia def: "A reduction in the number of circulating erythrocytes or in the quantity of hemoglobin caused by the ingestion of some medication." [] synonym: "Anemia caused by medication" EXACT [] synonym: "Anemia due to medication" EXACT [] is_a: DOID:2355 ! anemia created_by: rgd creation_date: 2016-08-15T00:00:00Z [Term] id: DOID:9000549 name: Tetraploidy def: "The presence of four sets of chromosomes. It is associated with ABNORMALITIES, MULTIPLE; and MISCARRAGES." [MESH:D057891] synonym: "Tetraploid" EXACT [] synonym: "Tetraploidies" EXACT [] synonym: "Tetraploids" EXACT [] xref: MESH:D057891 is_a: DOID:9005779 ! Polyploidy [Term] id: DOID:9000550 name: Epidermolytic Hyperkeratosis, Late-Onset xref: MESH:C566187 is_a: DOID:4603 ! epidermolytic hyperkeratosis [Term] id: DOID:9000551 name: Atrial Septal Defect Sinus Venosus xref: MESH:C548009 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:9000552 name: Cap Myopathy synonym: "Cap Disease" EXACT [] synonym: "Congenital Myopathy with Caps" EXACT [] xref: MESH:C579969 is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:9000554 name: Acute Cholinergic Dysautonomia xref: MESH:C535672 xref: RDO:0000924 is_a: DOID:9003171 ! Primary Dysautonomias [Term] id: DOID:9000555 name: Vulvar Lichen Sclerosus def: "Atrophy and shriveling of the SKIN of the VULVA that is characterized by the whitish LICHEN SCLEROSUS appearance, inflammation, and PRURITUS." [MESH:D007724] synonym: "Kraurosis Vulvae" EXACT [] synonym: "Lichen Sclerosus of Vulva" EXACT [] synonym: "Vulva Lichen Sclerosus" EXACT [] xref: EFO:1000623 xref: MESH:D007724 xref: NCI:C27723 xref: RDO:0005941 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:9000556 name: White Platelet Syndrome xref: MESH:C536702 xref: RDO:0002358 is_a: DOID:2218 ! blood platelet disease is_a: DOID:225 ! syndrome [Term] id: DOID:9000557 name: Thrombocytopenia 1 alt_id: MIM:313900 synonym: "THC" EXACT [] synonym: "THC1" EXACT [] synonym: "X-Linked Thrombocytopenia" EXACT [] synonym: "X-linked thrombocytopenia 1" EXACT [] synonym: "X-linked thrombocytopenia, intermittent" NARROW [] synonym: "XLT" EXACT [] xref: MESH:C564052 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9000558 name: Mucinous Cystadenoma def: "A multilocular tumor with mucin secreting epithelium. They are most often found in the ovary, but are also found in the pancreas, appendix, and rarely, retroperitoneal and in the urinary bladder. They are considered to have low-grade malignant potential." [MESH:D018291] synonym: "Mucinous Cystadenomas" EXACT [] xref: EFO:1001048 xref: MESH:D018291 is_a: DOID:2634 ! cystadenoma [Term] id: DOID:9000559 name: Glyoxalase II Deficiency alt_id: MIM:614033 synonym: "hydroxyacyl glutathione hydrolase deficiency" EXACT [] xref: MESH:C564215 is_a: DOID:2373 ! hereditary elliptocytosis is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9000562 name: Male Pseudohermaphroditism due to Defective LH Molecule alt_id: MIM:152780 synonym: "Male Pseudohermaphroditism due to Defective LH" EXACT [] xref: MESH:C535692 xref: RDO:0000951 is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:9000563 name: FLOTCH Syndrome synonym: "Friedel Heid Grosshans syndrome" EXACT [] xref: MESH:C537065 is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:4123 ! nail disease is_a: DOID:421 ! hair disease is_a: DOID:5679 ! retinal disease is_a: DOID:9005841 ! Epidermal Cyst is_a: DOID:9423 ! blepharitis [Term] id: DOID:9000564 name: Prehypertension def: "Blood pressure levels that are between normotension and hypertension. Individuals with prehypertension are at a higher risk for developing cardiovascular diseases. Generally, prehypertension is defined as SYSTOLIC PRESSURE of 131-139 mm Hg and/or DIASTOLIC PRESSURE of 81-89 when the optimal is 120/80 mm Hg. For diabetics and other metabolism diseases the prehypertension is around 110-129/70-79 mm Hg." [MESH:D058246] synonym: "Pre Hypertension" EXACT [] synonym: "Pre-Hypertensions" EXACT [] synonym: "Prehypertensions" EXACT [] xref: MESH:D058246 is_a: DOID:0050828 ! artery disease [Term] id: DOID:9000565 name: Stargardt Disease 4 alt_id: MIM:603786 synonym: "Stargardt disease, dominant" BROAD [] synonym: "STGD4" EXACT [] xref: MESH:C535521 is_a: DOID:0050817 ! Stargardt disease [Term] id: DOID:9000566 name: Bifid Nose with or without Anorectal and Renal Anomalies alt_id: MIM:608980 synonym: "BNAR" EXACT [] xref: MESH:C567672 is_a: DOID:1285 ! rectal disease is_a: DOID:557 ! kidney disease [Term] id: DOID:9000567 name: Hypercalciuric Hypercalcemia xref: MESH:C563373 xref: RDO:0012647 is_a: DOID:12678 ! hypercalcemia [Term] id: DOID:9000568 name: Analbuminemia def: "A rare autosomal recessive disorder manifested by the presence of a very low amount of circulating serum albumin." [] synonym: "ANALBA" EXACT [] synonym: "analbuminemia, American Indian type" NARROW [] synonym: "analbuminemia Baghdad" NARROW [] synonym: "analbuminemia Roma" NARROW [] xref: MIM:616000 xref: NCI:C124851 is_a: DOID:9007271 ! Hypoalbuminemia created_by: rgd creation_date: 2016-06-08T00:00:00Z [Term] id: DOID:9000569 name: Neonatal Self-Limited Primary Hyperparathyroidism with Hypercalciuria alt_id: MIM:239199 xref: MESH:C565496 is_a: DOID:11202 ! primary hyperparathyroidism [Term] id: DOID:9000570 name: Skin/Hair/Eye Pigmentation, Variation In, 3 synonym: "EYCL1" EXACT [] synonym: "EYE COLOR 1" EXACT [] synonym: "EYE COLOR, GREEN/BLUE" EXACT [] synonym: "GEY" EXACT [] synonym: "Melanoma, cutaneous malignant, susceptibility to, 8" NARROW [] synonym: "SHEP3" EXACT [] synonym: "SKIN/HAIR/EYE PIGMENTATION 3, BLUE/GREEN EYE COLOR" EXACT [] synonym: "SKIN/HAIR/EYE PIGMENTATION 3, FRECKLING" EXACT [] synonym: "SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN" EXACT [] xref: MIM:601800 is_a: DOID:10123 ! pigmentation disease is_a: DOID:1909 ! melanoma is_a: DOID:9001946 ! Skin Abnormalities created_by: mtutaj creation_date: 2022-12-06T10:10:45Z [Term] id: DOID:9000571 name: AIDS-Related Opportunistic Infections def: "Opportunistic infections found in patients who test positive for human immunodeficiency virus (HIV). The most common include PNEUMOCYSTIS PNEUMONIA, Kaposi's sarcoma, cryptosporidiosis, herpes simplex, toxoplasmosis, cryptococcosis, and infections with Mycobacterium avium complex, Microsporidium, and Cytomegalovirus." [MESH:D017088] synonym: "AIDS-Related Opportunistic Infection" EXACT [] synonym: "HIV-Related Opportunistic Infection" EXACT [] synonym: "HIV Related Opportunistic Infections" EXACT [] xref: MESH:D017088 xref: RDO:0007023 is_a: DOID:635 ! acquired immunodeficiency syndrome is_a: DOID:9002002 ! Opportunistic Infections [Term] id: DOID:9000572 name: Hereditary Sensory Neuropathy with Spastic Paraplegia, Autosomal Recessive xref: MESH:C564948 xref: MIM:256840 xref: MONDO:0009748 is_a: DOID:2477 ! motor peripheral neuropathy [Term] id: DOID:9000574 name: Sao Paulo MCA/MR Syndrome xref: MESH:C563119 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000575 name: Respiratory Signs and Symptoms def: "Respiratory system manifestations of diseases of the respiratory tract or of other organs." [MESH:D012818] xref: MESH:D012818 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9000576 name: Imperforate Hymen alt_id: MIM:237100 xref: MESH:C562397 is_a: DOID:9004918 ! Menstruation Disturbances [Term] id: DOID:9000577 name: Bronchopulmonary Sequestration def: "A developmental anomaly in which a mass of nonfunctioning lung tissue lacks normal connection with the tracheobroncheal tree and receives an anomalous blood supply originating from the descending thoracic or abdominal aorta. The mass may be extralobar, i.e., completely separated from normally connected lung, or intralobar, i.e., partly surrounded by normal lung." [MESH:D001998] synonym: "Bronchopulmonary Sequestrations" EXACT [] synonym: "Pulmonary Sequestration" EXACT [] synonym: "Pulmonary Sequestrations" EXACT [] xref: MESH:D001998 xref: RDO:0005075 is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:9000578 name: SPASTIC TETRAPLEGIA AND AXIAL HYPOTONIA, PROGRESSIVE def: "An autosomal recessive neurologic disorder characterized by onset of severe and progressive motor dysfunction in the first year of life. Affected individuals have severe axial hypotonia combined with spastic tetraplegia, hyperekplexia, hypertonia, and myokymia, reflecting upper motor neuron involvement." [MIM:618598] synonym: "progressive spastic tetraplegia and axial hypotonia" EXACT [] synonym: "SOD1 DEFICIENCY, AUTOSOMAL RECESSIVE" EXACT [] synonym: "STAHP" EXACT [] xref: EFO:0010567 xref: MIM:618598 is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2019-10-11T11:40:28Z [Term] id: DOID:9000579 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY def: "This disease is an autosomal recessive neurologic disorder characterized by global developmental delay with mildly impaired intellectual development apparent from infancy or early childhood. Affected individuals have hypotonia and delayed walking with an unsteady gait and frequent falls." [MIM:619844] synonym: "IDDPN" EXACT [] xref: MIM:619844 is_a: DOID:1059 ! intellectual disability is_a: DOID:574 ! peripheral nervous system disease created_by: slaulede creation_date: 2022-06-27T13:59:45Z [Term] id: DOID:9000580 name: Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan alt_id: MIM:203600 synonym: "Moynahan alopecia syndrome" EXACT [] xref: MESH:C537052 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:987 ! alopecia [Term] id: DOID:9000581 name: Cantalamessa Baldini Ambrosi Syndrome synonym: "Primary gonadal failure, short stature, mitral valve prolapse, and mental retardation" EXACT [] xref: MESH:C537981 xref: RDO:0003910 is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:988 ! mitral valve prolapse [Term] id: DOID:9000582 name: Reticulocytosis def: "An increase in circulating RETICULOCYTES, which is among the simplest and most reliable signs of accelerated ERYTHROCYTE production. Reticulocytosis occurs during active BLOOD regeneration (stimulation of red bone marrow) and in certain types of ANEMIA, particularly CONGENITAL HEMOLYTIC ANEMIA." [MESH:D045262] synonym: "HEMOGLOBIN LAS PALMAS" RELATED [] synonym: "Reticulocytoses" EXACT [] xref: MESH:D045262 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9000583 name: Trigger Finger Disorder alt_id: MIM:190410 def: "A painful disability in the hand affecting the finger or thumb. It is caused by mechanical impingement of the digital flexor tendons as they pass through a narrowed retinacular pulley at the level of the metacarpal head. Thickening of the sheath and fibrocartilaginous metaplasia can occur, and nodules can form. (From Green's Operative Hand Surgery, 5th ed, p2137-58)." [MESH:D052582] synonym: "Flexor Tendon Entrapment" EXACT [] synonym: "flexor tendon entrapments" EXACT [] synonym: "Snapping Finger" EXACT [] synonym: "Snapping Fingers" EXACT [] synonym: "Trigger Digit" EXACT [] synonym: "Trigger Digits" EXACT [] synonym: "Trigger Thumb" EXACT [] synonym: "trigger thumbs" EXACT [] xref: MESH:D052582 is_a: DOID:9004608 ! Tendon Entrapment [Term] id: DOID:9000584 name: Onycholysis def: "Separation of nail plate from the underlying nail bed. It can be a sign of skin disease, infection (such as ONYCHOMYCOSIS) or tissue injury." [MESH:D054039] synonym: "Onycholyses" EXACT [] synonym: "Photo-onycholyses" EXACT [] synonym: "Photo onycholysis" EXACT [] xref: MESH:D054039 xref: RDO:0007644 is_a: DOID:4123 ! nail disease [Term] id: DOID:9000585 name: Intervertebral Disc Disease alt_id: MIM:603932 synonym: "IDD" EXACT [] synonym: "intervertebral disc disease, susceptibility to" RELATED [] synonym: "LDD" NARROW [] synonym: "lumbar disc degeneration, susceptibility to" NARROW [] synonym: "LUMBAR DISC DISEASE" NARROW [] synonym: "lumbar disc herniation, susceptibility to" NARROW [] xref: EFO:1002005 xref: MESH:C535531 is_a: DOID:90 ! degenerative disc disease [Term] id: DOID:9000586 name: Vocal Cord Paralysis def: "Congenital or acquired paralysis of one or both VOCAL CORDS. This condition is caused by defects in the CENTRAL NERVOUS SYSTEM, the VAGUS NERVE and branches of LARYNGEAL NERVES. Common symptoms are VOICE DISORDERS including HOARSENESS or APHONIA." [MESH:D014826] synonym: "Acquired Vocal Cord Palsy" EXACT [] synonym: "Bilateral Vocal Cord Paresis" EXACT [] synonym: "Congenital Vocal Cord Palsy" EXACT [] synonym: "Laryngeal Paralyses" EXACT [] synonym: "Laryngeal Paralysis" EXACT [] synonym: "Partial Paralysis (Paresis) Vocal Cords" EXACT [] synonym: "Recurrent Laryngeal Nerve Palsy" EXACT [] synonym: "Total Vocal Cord Paralysis" EXACT [] synonym: "Unilateral Vocal Cord Paralysis" EXACT [] synonym: "Unilateral Vocal Cord Paresis" EXACT [] synonym: "Vocal Cord Palsies" EXACT [] synonym: "Vocal Cord Palsy" EXACT [] synonym: "Vocal Cord Paralyses" EXACT [] synonym: "Vocal Cord Pareses" EXACT [] synonym: "Vocal Cord Paresis" EXACT [] synonym: "Vocal Fold Palsies" EXACT [] synonym: "Vocal Fold Palsy" EXACT [] xref: MESH:D014826 is_a: DOID:12491 ! Vagus nerve disease is_a: DOID:786 ! laryngeal disease is_a: DOID:9005246 ! Paralysis [Term] id: DOID:9000587 name: Microphthalmia Associated with Colobomatous Cyst synonym: "Microphthalmos bilateral, colobomatous orbital cyst" EXACT [] xref: MESH:C537463 is_a: DOID:10629 ! microphthalmia is_a: DOID:12270 ! coloboma is_a: DOID:9007583 ! Cysts [Term] id: DOID:9000588 name: Autosomal Recessive Spinocerebellar Ataxia with Axonal Neuropathy xref: MIM:PS607250 is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia is_a: DOID:7319 ! axonal neuropathy created_by: mtutaj creation_date: 2019-05-01T12:26:04Z [Term] id: DOID:9000589 name: Immotile Cilia Syndrome, due to Defective Radial Spokes alt_id: MIM:242670 synonym: "Ciliary Dyskinesia With Defective Radial Spokes" EXACT [] synonym: "Cilia with defective radial spokes" EXACT [] xref: MESH:C536286 is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:9000590 name: Dyspnea def: "Difficult or labored breathing." [MESH:D004417] synonym: "Breathlessness" EXACT [] synonym: "Breathlessnesses" EXACT [] synonym: "Breath Shortness" EXACT [] synonym: "Breath Shortnesses" EXACT [] synonym: "Dyspneas" EXACT [] synonym: "Shortness of Breath" EXACT [] xref: EFO:0009727 xref: MESH:D004417 is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9000591 name: Congenital Nongoitrous Hypothyroidism synonym: "congenital hypothyroidism due to TSH resistance" EXACT [] synonym: "hypothyroidism due to unresponsiveness to thyrotropin" EXACT [] synonym: "resistance to thyroid-stimulating hormone" EXACT [] synonym: "resistance to thyrotropin" EXACT [] synonym: "RTSH" EXACT [] synonym: "thyrotropin resistance" EXACT [] synonym: "TSH resistance" EXACT [] xref: MESH:C000603735 is_a: DOID:0050328 ! congenital hypothyroidism [Term] id: DOID:9000594 name: Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 1 def: "An X-linked syndromic disorder that is phenotypically more severe in males than females. Caused by hemizygous or heterozygous mutation in the DKC1 gene on chromosome Xq28." [MIM:301108] synonym: "CHINE1" EXACT [] synonym: "DKC1-RELATED CONDITION" BROAD [] xref: MIM:301108 is_a: DOID:9007299 ! Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis created_by: mtutaj creation_date: 2023-07-07T12:33:21Z [Term] id: DOID:9000595 name: Lacerations def: "Torn, ragged, mangled wounds." [MESH:D022125] synonym: "Laceration" EXACT [] xref: MESH:D022125 xref: RDO:0007464 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9000596 name: Isolated Noncompaction of the Ventricular Myocardium def: "Rare congenital cardiomyopathies characterized by the lack of left ventricular myocardium compaction. The noncompaction results in numerous prominent trabeculations and a loose myocardial meshwork (spongy myocardium) in the LEFT VENTRICLE. Heterogeneous clinical features include diminished systolic function sometimes associated with left ventricular dilation, that presents either neonatally or progressively. Often, the RIGHT VENTRICLE is also affected. CONGESTIVE HEART FAILURE; PULMONARY EMBOLISM; and ventricular ARRHYTHMIA are commonly seen." [MESH:D056830] synonym: "Isolated Noncompaction of the Left Ventricular Myocardium, X-Linked" EXACT [] synonym: "Isolated Non-compaction of the Ventricular Myocardium" EXACT [] synonym: "Noncompaction of the Left Ventricular Myocardium, Autosomal Dominant" EXACT [] xref: EFO:1001802 xref: MESH:D056830 xref: RDO:0007762 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:12929 ! endocardial fibroelastosis is_a: DOID:1682 ! congenital heart disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000597 name: Hemolytic Poikilocytic Anemia due to Reduced Ankyrin Binding Sites alt_id: MIM:141700 xref: MESH:C564197 is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:9000598 name: Cranial Nerve Injuries def: "Dysfunction of one or more cranial nerves causally related to a traumatic injury. Penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA; NECK INJURIES; and trauma to the facial region are conditions associated with cranial nerve injuries." [MESH:D020209] synonym: "Cranial Nerve Injury" EXACT [] synonym: "Traumatic Cranial Neuropathies" EXACT [] synonym: "Traumatic Cranial Neuropathy" EXACT [] xref: MESH:D020209 is_a: DOID:5656 ! cranial nerve disease is_a: DOID:9007621 ! Craniocerebral Trauma [Term] id: DOID:9000599 name: Hyperbilirubinemia, Transient Familial Neonatal alt_id: MIM:237900 synonym: "HBLRTFN" EXACT [] synonym: "LUCEY-DRISCOLL SYNDROME BREAST MILK JAUNDICE" NARROW [] xref: MESH:C562692 xref: RDO:0012294 is_a: DOID:9002532 ! Neonatal Hyperbilirubinemia is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia [Term] id: DOID:9000600 name: Atresia of Small Intestine synonym: "Congenital atresia of the small intestine" EXACT [] synonym: "Small intestine atresia" EXACT [] xref: MESH:C538260 is_a: DOID:10486 ! intestinal atresia [Term] id: DOID:9000601 name: Mental Fatigue def: "A condition of low alertness or cognitive impairment, usually associated with prolonged mental activities or stress." [MESH:D005222] xref: MESH:D005222 is_a: DOID:9006617 ! Fatigue [Term] id: DOID:9000602 name: Oocyte Maturation Defect 4 synonym: "Oocyte/zygote/embryo maturation arrest 4" EXACT [] synonym: "OOMD4" EXACT [] synonym: "OZEMA4" EXACT [] xref: MIM:617743 xref: NCI:C188145 is_a: DOID:9007456 ! Female Infertility created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:9000603 name: Cardiomyopathy Associated with Myopathy and Sudden Death alt_id: MIM:212130 xref: MESH:C565881 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:9007820 ! Sudden Death [Term] id: DOID:9000604 name: Moderate Minicore Myopathy, with Hand Involvement alt_id: RDO:0014591 synonym: "moderate multicore myopathy, with hand involvement" EXACT [] synonym: "moderate multiminicore disease, with hand involvement" EXACT [] xref: MESH:C566147 is_a: DOID:3529 ! congenital myopathy 1A [Term] id: DOID:9000605 name: Preleukemias def: "Conditions in which the abnormalities in the peripheral blood or bone marrow represent the early manifestations of acute leukemia, but in which the changes are not of sufficient magnitude or specificity to permit a diagnosis of acute leukemia by the usual clinical criteria." [MESH:D011289] synonym: "preleukemia" EXACT [] xref: MESH:D011289 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:9000606 name: Familial Lateral Semicircular Canal Malformation, with External and Middle Ear Abnormalities alt_id: MIM:608814 xref: MESH:C537879 is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000607 name: Chromosome 1, Monosomy 1p31 p22 synonym: "Deletion 1p31 p22" EXACT [] synonym: "Monosomy 1p31 p22" EXACT [] xref: MESH:C535593 xref: RDO:0000811 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9000608 name: Viral Conjunctivitis def: "Inflammation, often mild, of the conjunctiva caused by a variety of viral agents. Conjunctival involvement may be part of a systemic infection." [MESH:D003236] synonym: "Viral Conjunctivitides" EXACT [] xref: EFO:0008571 xref: MESH:D003236 is_a: DOID:6195 ! conjunctivitis is_a: DOID:9005295 ! Viral Eye Infections [Term] id: DOID:9000609 name: Combined Cerebellar and Peripheral Ataxia with Hearing Loss and Diabetes Mellitus synonym: "ACPHD" EXACT [] xref: MIM:616192 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9000610 name: Obstetric Labor Complications def: "Medical problems associated with OBSTETRIC LABOR, such as BREECH PRESENTATION; PREMATURE OBSTETRIC LABOR; HEMORRHAGE; or others. These complications can affect the well-being of the mother, the FETUS, or both." [MESH:D007744] synonym: "Labor Complication" EXACT [] synonym: "Labor Complications" EXACT [] synonym: "Obstetric Labor Complication" EXACT [] xref: MESH:D007744 is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9000612 name: Cardiac Allograft Vasculopathy def: "Development of coronary artery disease in the arteries of the transplanted heart." [] synonym: "cardiac transplant vasculopathy" EXACT [] synonym: "CAV" EXACT [] synonym: "transplant coronary artery disease" EXACT [] is_a: DOID:3393 ! coronary artery disease is_a: DOID:9002153 ! Chronic Allograft Dysfunction [Term] id: DOID:9000613 name: Hyaline Membrane Disease alt_id: MESH:C566881 alt_id: MIM:267450 alt_id: RDO:0000286 alt_id: RDO:0015097 def: "A respiratory distress syndrome in newborn infants, usually premature infants with insufficient PULMONARY SURFACTANTS. The disease is characterized by the formation of a HYALINE-like membrane lining the terminal respiratory airspaces (PULMONARY ALVEOLI) and subsequent collapse of the lung (PULMONARY ATELECTASIS)." [MESH:D006819] synonym: "Hyaline Membrane Diseases" EXACT [] synonym: "RDS of prematurity" EXACT [] synonym: "RESPIRATORY DISTRESS ASSOCIATED WITH PREMATURITY" EXACT [] synonym: "respiratory distress syndrome in premature infants" EXACT [] xref: MESH:D006819 is_a: DOID:12716 ! newborn respiratory distress syndrome [Term] id: DOID:9000614 name: upper tract urothelial carcinoma def: "This is carcinoma that derives from transitional epithelial cells (urothelium) in the renal pelvis or ureters." [https://www.merriam-webster.com, UBERON:0000365] synonym: "upper tract transitional cell carcinoma" EXACT [] synonym: "upper urinary tract urothelial carcinoma" EXACT [] is_a: DOID:2671 ! transitional cell carcinoma is_a: DOID:3996 ! urinary system cancer created_by: slaulede creation_date: 2021-09-23T11:30:10Z [Term] id: DOID:9000615 name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES def: "A syndromic disorder with multisystemic involvement. Affected individuals have severe global developmental delay with severely impaired intellectual development, poor or absent language, behavioral abnormalities, seizures, and sleep disturbances. Brain imaging shows dysgenesis of the corpus callosum and progressive cerebellar atrophy." [MIM:619103] synonym: "NEDFASB" EXACT [] xref: MIM:619103 is_a: DOID:535 ! sleep disorder is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:936 ! brain disease created_by: slaulede creation_date: 2021-01-18T13:22:55Z [Term] id: DOID:9000616 name: Metaphyseal Anadysplasia 1 synonym: "MANDP1" EXACT [] synonym: "METAPHYSEAL ANADYSPLASIA 1, AUTOSOMAL DOMINANT" NARROW [] synonym: "Metaphyseal anadysplasia 1, autosomal recessive" NARROW [] xref: MESH:C567545 is_a: DOID:9001193 ! Metaphyseal Anadysplasia [Term] id: DOID:9000617 name: Myelocerebellar Disorder alt_id: MIM:159550 synonym: "Ataxia-Pancytopenia Syndrome" EXACT [] synonym: "ATXPC" EXACT [] xref: MESH:C563233 xref: NCI:C176909 xref: RDO:0012567 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:12450 ! pancytopenia [Term] id: DOID:9000618 name: Surgical Shock def: "A type of shock that occurs as a result of a surgical procedure." [MESH:D012773] synonym: "Surgical Shocks" EXACT [] xref: EFO:0007686 xref: MESH:D012773 is_a: DOID:9000790 ! Postoperative Complications is_a: DOID:9002549 ! Shock [Term] id: DOID:9000619 name: Uncombable Hair Syndrome 1 def: "Characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. caused by homozygous or compound heterozygous mutation in the PADI3 gene on chromosome 1p36." [MIM:191480] synonym: "PADI3-RELATED CONDITION" EXACT [] synonym: "UHS1" EXACT [] xref: MIM:191480 is_a: DOID:9005997 ! Uncombable Hair Syndrome created_by: mtutaj creation_date: 2022-05-31T07:52:13Z [Term] id: DOID:9000620 name: Bleeding Disorder Due To P2rx1 Defect xref: MESH:C576084 xref: RDO:0015782 is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9000621 name: Generalized Epidermolysis Bullosa Simplex 2D def: "This disease is characterized by widespread intraepidermal skin blistering and erosions from birth." [MIM:619599] synonym: "autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 2D" EXACT [] synonym: "EBS2D" EXACT [] synonym: "EPIDERMOLYSIS BULLOSA SIMPLEX 2D, GENERALIZED SEVERE, AUTOSOMAL RECESSIVE" NARROW [] xref: MIM:619599 is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type created_by: mtutaj creation_date: 2021-11-03T12:32:16Z [Term] id: DOID:9000622 name: Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 synonym: "CRANIOOSTEOARTHROPATHY" RELATED [] synonym: "CURRARINO IDIOPATHIC OSTEOARTHROPATHY" RELATED [] synonym: "FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD" RELATED [] synonym: "PDP, Autosomal Recessive" EXACT [] synonym: "PHOAR1" EXACT [] synonym: "PHO, Autosomal Recessive" EXACT [] xref: MIM:259100 is_a: DOID:14283 ! primary hypertrophic osteoarthropathy [Term] id: DOID:9000623 name: panic disorder with agoraphobia def: "This is a disorder in which an individual experiences recurrent, unexpected panic attacks, persistent concern about having additional panic attacks, and agoraphobia." [NCI:C97194] xref: EFO:0009509 is_a: DOID:594 ! panic disorder created_by: slaulede creation_date: 2023-01-13T11:00:50Z [Term] id: DOID:9000624 name: Charcot-Marie-Tooth Disease Type 1I def: "A neurologic disorder characterized predominantly by delayed motor development in the first years of life associated with gait abnormalities, sensory ataxia, hyporeflexia, and distal sensory impairment due to a sensorimotor peripheral neuropathy that mainly affects the lower limbs. Caused by heterozygous mutation in the POLR3B gene on chromosome 12q23." [MIM:619742] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1I" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, type 1I" EXACT [] synonym: "CMT1I" EXACT [] xref: MIM:619742 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 created_by: mtutaj creation_date: 2022-02-15T16:15:57Z [Term] id: DOID:9000625 name: Nonseminomatous Germ Cell Tumor synonym: "Non-seminomatous germ-cell tumors" EXACT [] xref: MESH:C537844 is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms is_a: DOID:9004207 ! Testicular Neoplasms [Term] id: DOID:9000626 name: Familial Laryngeal Web alt_id: MIM:150360 synonym: "Congenital Anterior Glottic Web" EXACT [] synonym: "Subglottic Bar" EXACT [] synonym: "Subglottic Web" EXACT [] xref: MESH:C563636 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9000627 name: hemorrhagic stroke def: "This is an acute episode of focal or global cerebral or spinal dysfunction caused by intraparenchymal, intraventricular, or subarachnoid hemorrhage." [NCI:C95803] synonym: "Hemorrhagic Cerebrovascular Accident" EXACT [] xref: EFO:0020921 is_a: DOID:9007096 ! Stroke created_by: slaulede creation_date: 2023-02-24T16:14:23Z [Term] id: DOID:9000628 name: Neurodevelopmental Disorder with Growth Retardation, Dysmorphic Facies, and Corpus Callosum Abnormalities def: "An autosomal recessive neurodevelopmental disorder characterized by growth retardation, dysmorphic facies, and corpus callosum abnormalities, apparent from infancy. Caused by homozygous mutation in the FRA10AC1 gene on chromosome 10q23." [MIM:620113] synonym: "NEDGFC" EXACT [] xref: MIM:620113 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006257 ! Growth Disorders created_by: mtutaj creation_date: 2022-11-07T07:51:57Z [Term] id: DOID:9000629 name: Preauricular Tag, Isolated, Autosomal Dominant, 1 alt_id: DOID:9002696 alt_id: MIM:610420 def: "A preauricular tag is a small excrescence of skin that contains elastic cartilage most commonly located anterior to the tragus, although it can be located on different regions of the ear helix and/or face." [] synonym: "accessory auricle" EXACT [] synonym: "accessory tragus" EXACT [] synonym: "preauricular appendage" EXACT [] synonym: "PREAURICULAR SKIN TAG" EXACT [] xref: MESH:C566904 is_a: DOID:2742 ! auditory system disease is_a: DOID:6873 ! skin tag [Term] id: DOID:9000630 name: Lymphoblastic Transformation, Intrinsic Defect in alt_id: MIM:247450 xref: MESH:C565431 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9000631 name: Hyper-Beta-Alaninemia alt_id: MIM:237400 synonym: "Hyperalaninemia" EXACT [] xref: MESH:C562684 is_a: DOID:11832 ! visual epilepsy is_a: DOID:8619 ! recurrent hypersomnia [Term] id: DOID:9000632 name: Lowry Wood Syndrome alt_id: MIM:226960 synonym: "epiphyseal dysplasia, microcephaly and nystagmus" EXACT [] synonym: "LWS" EXACT [] synonym: "multiple epiphyseal dysplasia with microcephaly and retinal dystrophy" EXACT [] xref: MESH:C537038 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9000633 name: Interstitial Pregnancy def: "A type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the portion of the FALLOPIAN TUBE that traverses the muscular wall of the uterus." [MESH:D065167] synonym: "Interstitial Pregnancies" EXACT [] xref: MESH:D065167 is_a: DOID:9000960 ! Tubal Pregnancy [Term] id: DOID:9000634 name: Amelogenesis Imperfecta Hypomaturation Type xref: MESH:C536606 xref: RDO:0002236 is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:9000635 name: Platelet Signal Processing Defect alt_id: MIM:173590 xref: MESH:C566796 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:9000636 name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL DOMINANT def: "This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, hypotonia, and behavioral abnormalities, most commonly aggressive behavior." [MIM:619467] synonym: "autosomal dominant Usmani-Riazzudin syndrome" EXACT [] synonym: "USRISD" EXACT [] xref: MIM:619467 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2021-12-14T14:41:44Z [Term] id: DOID:9000637 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES def: "A disease characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles." [MIM:618603] synonym: "NEDHIB" EXACT [] synonym: "POLR2A-RELATED CONDITION" EXACT [] xref: EFO:0010568 xref: MIM:618603 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9005835 ! Congenital Abnormalities created_by: slaulede creation_date: 2019-10-10T17:21:53Z [Term] id: DOID:9000638 name: Chromosome 8, Partial Trisomy synonym: "Partial trisomy 8" EXACT [] xref: MESH:C537941 xref: RDO:0003863 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000639 name: COACH Syndrome 1 synonym: "COACH1" EXACT [] xref: MIM:216360 is_a: DOID:0111589 ! COACH syndrome created_by: mtutaj creation_date: 2020-12-02T10:41:20Z [Term] id: DOID:9000640 name: Giant Cell Granuloma def: "A non-neoplastic inflammatory lesion, usually of the jaw or gingiva, containing large, multinucleated cells. It includes reparative giant cell granuloma. Peripheral giant cell granuloma refers to the gingiva (giant cell epulis); central refers to the jaw." [] synonym: "giant cell epulides" EXACT [] synonym: "Giant Cell Epulis" EXACT [] synonym: "Giant Cell Granulomas" EXACT [] synonym: "peripheral giant cell granuloma" EXACT [] xref: MESH:D006101 is_a: DOID:1483 ! gingival disease is_a: DOID:9002019 ! Granuloma is_a: DOID:9003876 ! Jaw Diseases [Term] id: DOID:9000641 name: Pain def: "An unpleasant sensation induced by noxious stimuli which are detected by NERVE ENDINGS of NOCICEPTIVE NEURONS." [MESH:D010146] synonym: "Ache" EXACT [] synonym: "aches" EXACT [] synonym: "Burning Pain" EXACT [] synonym: "burning pains" EXACT [] synonym: "Crushing Pain" EXACT [] synonym: "Crushing Pains" EXACT [] synonym: "Migratory Pain" EXACT [] synonym: "Migratory Pains" EXACT [] synonym: "Physical Suffering" EXACT [] synonym: "Physical Sufferings" EXACT [] synonym: "Radiating Pain" EXACT [] synonym: "Radiating Pains" EXACT [] synonym: "splitting pain" EXACT [] synonym: "splitting pains" EXACT [] xref: EFO:0003843 xref: MESH:D010146 is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9000642 name: Lymphedema and Cerebral Arteriovenous Anomaly alt_id: MIM:152900 xref: MESH:C563612 is_a: DOID:0060688 ! arteriovenous malformations of the brain is_a: DOID:4977 ! lymphedema [Term] id: DOID:9000644 name: Familial Hyperaldosteronism, Type III synonym: "familial hyperaldosteronism type 3" EXACT [] synonym: "FH3" EXACT [] synonym: "FH III" EXACT [] synonym: "HALD3" EXACT [] xref: GARD:12362 xref: MIM:613677 xref: MONDO:0013359 xref: ORDO:251274 is_a: DOID:446 ! primary hyperaldosteronism [Term] id: DOID:9000645 name: Rotavirus Infections alt_id: RDO:0006509 def: "Infection with any of the rotaviruses. Specific infections include human infantile diarrhea, neonatal calf diarrhea, and epidemic diarrhea of infant mice." [MESH:D012400] synonym: "Rotavirus Infection" EXACT [] synonym: "Rotavirus infectious disease" EXACT [] xref: EFO:0002622 xref: MESH:D012400 is_a: DOID:9006487 ! Reoviridae Infections [Term] id: DOID:9000646 name: Spinocerebellar Ataxia 49 def: "An autosomal dominant neurologic disorder characterized initially by gait abnormalities, gaze-evoked nystagmus, and hyperreflexia. Caused by heterozygous mutation in the SAMD9L gene on chromosome 7q21." [MIM:619806] synonym: "SCA49" EXACT [] xref: MIM:619806 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: mtutaj creation_date: 2022-04-11T12:08:51Z [Term] id: DOID:9000647 name: Acute Erythroleukemia synonym: "Acute erythroleukemia - M6a subtype" EXACT [] synonym: "Acute erythroleukemia - M6b subtype" EXACT [] synonym: "Acute myeloid leukemia FAB-M6" EXACT [] xref: EFO:0000218 xref: MESH:C535673 xref: RDO:0000926 is_a: DOID:0080916 ! erythroleukemia [Term] id: DOID:9000648 name: Malformed Nails def: "Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails." [MESH:D009264] synonym: "Abnormal Nail" EXACT [] synonym: "abnormal nails" EXACT [] synonym: "Malformed Nail" EXACT [] synonym: "Nail Abnormalities" EXACT [] synonym: "Nail Abnormality" EXACT [] synonym: "pachyonychia" EXACT [] xref: MESH:D009264 is_a: DOID:4123 ! nail disease is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9000651 name: Abnormal Thyroid Hormone Metabolism 2 def: "Characterized by elevated serum reverse triiodothyronine (rT3) levels and rT3/T3 ratios. Caused by heterozygous mutation in the DIO1 gene on chromosome 1p32." [MIM:619855] synonym: "THMA2" EXACT [] xref: MIM:619855 is_a: DOID:50 ! thyroid gland disease created_by: mtutaj creation_date: 2022-04-26T10:47:11Z [Term] id: DOID:9000652 name: Cardiac Conduction Disease with or without Dilated Cardiomyopathy def: "CCDD is caused by heterozygous mutation in the TNNI3K gene (613932) on chromosome 1p31. (OMIM)" [] synonym: "CCDD" EXACT [] synonym: "TNNI3K-RELATED CONDITION" EXACT [] xref: MIM:616117 xref: RDO:9000809 is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9001836 ! Cardiac Conduction Defect [Term] id: DOID:9000653 name: Lactic Aciduria due to D-Lactic Acid alt_id: MIM:245450 def: "DLACD is caused by homozygous mutation in the LDHD gene on chromosome 16q23. (OMIM)" [] synonym: "DLACD" EXACT [] synonym: "D-LACTIC ACIDURIA" EXACT [] synonym: "D-lactic aciduria with gout" EXACT [] xref: MESH:C565446 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9000654 name: Aortic Aneurysm, Familial Abdominal 1 alt_id: MIM:100070 alt_id: RDO:0007862 alt_id: RDO:0013932 synonym: "AAA1" EXACT [] xref: MESH:C565230 is_a: DOID:7693 ! abdominal aortic aneurysm [Term] id: DOID:9000656 name: Penetrating Wounds def: "Wounds caused by objects penetrating the skin." [MESH:D014950] synonym: "Penetrating Wound" EXACT [] xref: MESH:D014950 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9000657 name: Glassy Cell Carcinoma of the Cervix synonym: "Glassy cell adenocarcinoma of the uterine cervix" EXACT [] xref: MESH:C536823 xref: RDO:0002516 is_a: DOID:9003373 ! Uterine Cervical Neoplasms [Term] id: DOID:9000658 name: Leigh Syndrome due to Mitochondrial Complex IV Deficiency xref: EFO:0009135 xref: MESH:C564963 is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9000659 name: Heavy Metal Toxicity def: "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of HEAVY METALS. Acute and chronic exposures can cause ANEMIA; KIDNEY and LIVER damage; PULMONARY EDEMA; MEMORY LOSS and behavioral changes; bone deformities in children; and MISCARRIAGE or PREMATURE LABOR in pregnant women. (MESH)" [] synonym: "chronic heavy metal poisoning" EXACT [] synonym: "heavy metal poisoning" EXACT [] xref: EFO:1001518 xref: MESH:D000075322 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9000660 name: Choristoma def: "A mass of histologically normal tissue present in an abnormal location." [MESH:D002828] synonym: "Aberrant Tissue" EXACT [] synonym: "Aberrant Tissues" EXACT [] synonym: "Choristomas" EXACT [] synonym: "Ectopic Tissue" EXACT [] synonym: "Ectopic Tissues" EXACT [] synonym: "Heterotopic Tissue" EXACT [] synonym: "Heterotopic Tissues" EXACT [] xref: MESH:D002828 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9000661 name: Le Marec Bracq Picaud Syndrome def: "A very rare syndrome characterized mainly by a large head, short arms and clubfoot." [] synonym: "Complex malformation syndrome with brachymesomelia" EXACT [] xref: MESH:C536997 xref: RDO:0002734 is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000662 name: Warburg-Cinotti Syndrome def: "A disease characterized by progressive corneal neovascularization, keloid formation, chronic skin ulcers, wasting of subcutaneous tissue, flexion contractures of the fingers, and acroosteolysis." [MIM:618175] synonym: "WRCN" EXACT [] xref: EFO:0010166 xref: MIM:618175 is_a: DOID:11382 ! corneal neovascularization is_a: DOID:9000058 ! Keloid is_a: DOID:9001402 ! Acro-Osteolysis is_a: DOID:9006836 ! Contracture created_by: slaulede creation_date: 2020-02-17T18:43:56Z [Term] id: DOID:9000664 name: Familial Thoracic Aortic Aneurysm 4 alt_id: MIM:132900 synonym: "AAT4" EXACT [] synonym: "Aortic aneurysm-aortic dissection and patent ductus arteriosus" EXACT [] synonym: "FAA4" EXACT [] xref: MESH:C537784 is_a: DOID:13832 ! patent ductus arteriosus is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:9000666 name: Raine Syndrome alt_id: DOID:9002952 alt_id: MESH:C564916 alt_id: MIM:259775 synonym: "CSOCC" EXACT [] synonym: "FAM20C-RELATED CONDITION" EXACT [] synonym: "Lethal osteosclerotic bone dysplasia" EXACT [] synonym: "RNS" EXACT [] synonym: "sclerosing osteomalacia with cerebral calcification" EXACT [] xref: MESH:C535282 is_a: DOID:10573 ! osteomalacia is_a: DOID:10907 ! microcephaly is_a: DOID:182 ! calcinosis is_a: DOID:4254 ! osteosclerosis is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:930 ! orbital disease [Term] id: DOID:9000667 name: Congenital Plasminogen Deficiency synonym: "Hypoplasminogenemia" EXACT [] xref: MESH:C580017 xref: RDO:0015877 is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:9000668 name: Nizon-Isidor Syndrome synonym: "MED12L-RELATED CONDITION" EXACT [] synonym: "NIZIDS" EXACT [] xref: MIM:618872 is_a: DOID:225 ! syndrome is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2020-06-15T16:04:37Z [Term] id: DOID:9000669 name: Ventricular Dysfunction, Right def: "A condition in which the RIGHT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE or MYOCARDIAL INFARCTION, and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the right ventricular wall." [MESH:D018497] synonym: "Right Ventricular Dysfunctions" EXACT [] xref: MESH:D018497 xref: RDO:0007214 is_a: DOID:9007039 ! Ventricular Dysfunction [Term] id: DOID:9000670 name: Ileal Neoplasms def: "Tumors or cancer in the ILEUM region of the small intestine (INTESTINE, SMALL)." [MESH:D007078] synonym: "ileal neoplasm" EXACT [] synonym: "ileal tumor" EXACT [] xref: EFO:1000981 xref: MESH:D007078 xref: NCI:C3130 is_a: DOID:9001261 ! Ileal Diseases is_a: DOID:9002245 ! Intestinal Neoplasms created_by: mtutaj creation_date: 2021-12-16T06:22:01Z [Term] id: DOID:9000671 name: Thakker Donnai Syndrome synonym: "Dysmorphic facial features and multiple structural abnormalities" EXACT [] synonym: "Dysmorphism multiple structural anomalies" EXACT [] xref: MESH:C536503 is_a: DOID:225 ! syndrome is_a: DOID:767 ! muscular atrophy is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000672 name: Immunoblastic Large-Cell Lymphoma def: "Malignant lymphoma characterized by the presence of immunoblasts with uniformly round-to-oval nuclei, one or more prominent nucleoli, and abundant cytoplasm. This class may be subdivided into plasmacytoid and clear-cell types based on cytoplasmic characteristics. A third category, pleomorphous, may be analogous to some of the peripheral T-cell lymphomas (LYMPHOMA, T-CELL, PERIPHERAL) recorded in both the United States and Japan." [MESH:D016400] synonym: "Diffuse Immunoblastic Lymphosarcoma" EXACT [] synonym: "Diffuse Immunoblastic Lymphosarcomas" EXACT [] synonym: "Immunoblastic Large-Cell Lymphomas" EXACT [] synonym: "Immunoblastic Sarcoma" EXACT [] synonym: "Immunoblastic Sarcomas" EXACT [] synonym: "Immunoblastoma" EXACT [] synonym: "Immunoblastomas" EXACT [] xref: MESH:D016400 is_a: DOID:0060060 ! non-Hodgkin lymphoma [Term] id: DOID:9000673 name: Actinomycetales Infections def: "Infections with bacteria of the order ACTINOMYCETALES." [MESH:D000193] synonym: "Actinomycetales Infection" EXACT [] synonym: "Actinomycete Infection" EXACT [] synonym: "Actinomycete Infections" EXACT [] xref: EFO:1001122 xref: MESH:D000193 xref: RDO:0004726 is_a: DOID:9002823 ! Gram-Positive Bacterial Infections [Term] id: DOID:9000674 name: Agenesis of Gallbladder alt_id: MIM:137040 xref: MESH:C562564 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9000675 name: Microcephaly Sparse Hair Mental Retardation Seizures xref: MESH:C537545 xref: MONDO:0043139 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:987 ! alopecia [Term] id: DOID:9000676 name: Tumor Predisposition Syndrome 2 def: "An autosomal recessive cancer predisposition syndrome characterized by the onset of various types of tumors or malignancies in young adulthood. Caused by homozygous or compound heterozygous germline mutation in the MBD4 gene on chromosome 3q21." [MIM:619975] synonym: "MANS" EXACT [] synonym: "MBD4-ASSOCIATED NEOPLASIA SYNDROME" EXACT [] synonym: "TPDS2" EXACT [] xref: MIM:619975 is_a: DOID:9001329 ! Tumor Predisposition Syndrome created_by: mtutaj creation_date: 2022-08-08T11:22:37Z [Term] id: DOID:9000677 name: Ehlers-Danlos Syndrome, Beasley Cohen Type alt_id: MIM:608763 synonym: "Ehlers-Danlos syndrome with mental retardation, deafness, and cataract" EXACT [] xref: MESH:C536199 is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:9000678 name: Duker Weiss Siber syndrome alt_id: RDO:0000991 xref: MESH:C535719 is_a: DOID:1059 ! intellectual disability is_a: DOID:10629 ! microphthalmia is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:9000679 name: Leigh Syndrome due to Mitochondrial Complex III Deficiency xref: MESH:C564962 is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9000680 name: Subacute Necrotizing Encephalopathy of Leigh, Infantile synonym: "Leigh's necrotizing encephalopathy" EXACT [] xref: MESH:C538590 xref: RDO:0004518 is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9000681 name: Elimination Disorders def: "Excretory-related psychiatric disorders usually diagnosed in infancy or childhood." [MESH:D019960] synonym: "Elimination Disorder" EXACT [] xref: MESH:D019960 xref: RDO:0005480 is_a: DOID:150 ! disease of mental health [Term] id: DOID:9000682 name: Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome synonym: "CAASDS" EXACT [] synonym: "VSX1-RELATED CONDITION" BROAD [] xref: MIM:614195 xref: RDO:9000256 is_a: DOID:0060648 ! anterior segment dysgenesis is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000683 name: Distal Renal Tubular Acidosis 2 with Progressive Nerve Deafness alt_id: MIM:267300 synonym: "distal renal tubular acidosis with progressive deafness" EXACT [] synonym: "distal renal tubular acidosis with progressive nerve deafness" EXACT [] synonym: "distal renal tubular acidosis with progressive sensorineural hearing loss" EXACT [] synonym: "DRTA2" EXACT [] synonym: "renal tubular acidosis, autosomal recessive, with progressive nerve deafness" EXACT [] synonym: "Renal Tubular Acidosis with Progressive Nerve Deafness" EXACT [] synonym: "RTA with progressive deafness" EXACT [] xref: MESH:C562897 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9007406 ! Distal Renal Tubular Acidosis [Term] id: DOID:9000684 name: Porcine Reproductive and Respiratory Syndrome def: "A syndrome characterized by outbreaks of late term abortions, high numbers of stillbirths and mummified or weak newborn piglets, and respiratory disease in young unweaned and weaned pigs. It is caused by PORCINE RESPIRATORY AND REPRODUCTIVE SYNDROME VIRUS. (Radostits et al., Veterinary Medicine, 8th ed, p1048)" [MESH:D019318] synonym: "Blue Eared Pig Disease" EXACT [] synonym: "Mystery Swine Disease" EXACT [] synonym: "Porcine Epidemic Abortion and Respiratory Syndrome" EXACT [] synonym: "PRRS" EXACT [] synonym: "Swine Infertility and Respiratory Syndrome" EXACT [] xref: MESH:D019318 xref: RDO:0007269 is_a: DOID:225 ! syndrome is_a: DOID:9001975 ! Arterivirus Infections is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9000685 name: Chondromatosis def: "Multiple formation of chondromas. (Dorland, 27th ed)" [MESH:D018210] synonym: "Chondromatoses" EXACT [] xref: MESH:D018210 is_a: DOID:2602 ! chondroma [Term] id: DOID:9000686 name: Striatonigral Degeneration, Childhood-Onset synonym: "LENK-PLOSKI SYNDROME" EXACT [] synonym: "SNDC" EXACT [] xref: MIM:617054 xref: MONDO:0014889 is_a: DOID:4751 ! striatonigral degeneration created_by: rgd creation_date: 2016-09-13T00:00:00Z [Term] id: DOID:9000687 name: Torticollis Keloids Cryptorchidism Renal Dysplasia alt_id: MIM:314300 synonym: "Goeminne syndrome" EXACT [] synonym: "TKC" EXACT [] synonym: "TKCR" EXACT [] synonym: "TKCR SYNDROME" EXACT [] synonym: "Torticollis, Keloids, Cryptorchidism, and Renal Dysplasia" EXACT [] xref: MESH:C536970 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050840 ! cervical dystonia is_a: DOID:11383 ! cryptorchidism is_a: DOID:9000058 ! Keloid [Term] id: DOID:9000691 name: Clavicular Hypoplasia, Zygomatic Arch Hypoplasia, and Micrognathia alt_id: MIM:605040 xref: MESH:C565729 is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:9000692 name: Megarbane Syndrome alt_id: MIM:606527 xref: MESH:C536145 is_a: DOID:1283 ! enterocele is_a: DOID:225 ! syndrome is_a: DOID:9005077 ! Joint Instability is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9000693 name: Mitochondrial Complex III Deficiency Nuclear Type 10 synonym: "MC3DN10" EXACT [] xref: MIM:618775 is_a: DOID:0111139 ! mitochondrial complex III deficiency created_by: mtutaj creation_date: 2020-02-17T11:06:05Z [Term] id: DOID:9000694 name: Brain Stem Hemorrhage, Traumatic def: "Bleeding into structures of BRAIN STEM, including the MIDBRAIN; PONS; or MEDULLA OBLONGATA, as the result of CRANIOCEREBRAL TRAUMA. DIFFUSE AXONAL INJURY is commonly associated. Clinical manifestations may include OCULAR MOTILITY DISORDERS; ATAXIA; PARALYSIS; PERSISTENT VEGETATIVE STATE; and COMA." [MESH:D020203] synonym: "Post Traumatic Brain Stem Hemorrhage" EXACT [] synonym: "Post Traumatic Brainstem Hemorrhage" EXACT [] synonym: "Traumatic Brain Stem Hematoma" EXACT [] synonym: "Traumatic Brainstem Hematoma" EXACT [] synonym: "Traumatic Brainstem Hematomas" EXACT [] synonym: "Traumatic Brainstem Hemorrhage" EXACT [] synonym: "Traumatic Bulbar Hemorrhage" EXACT [] synonym: "Traumatic Medullary Hemorrhage" EXACT [] synonym: "Traumatic Midbrain Hemorrhage" EXACT [] synonym: "Traumatic Pontine Hemorrhage" EXACT [] xref: EFO:1001276 xref: MESH:D020203 xref: RDO:0007343 is_a: DOID:9004208 ! Traumatic Brain Hemorrhage [Term] id: DOID:9000695 name: Sharma Kapoor Ramji Syndrome xref: MESH:C537595 xref: RDO:0003466 is_a: DOID:225 ! syndrome is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000696 name: Citrulline Transport Defect alt_id: MIM:215720 xref: MESH:C536207 is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:9000698 name: Oculopalatocerebral Syndrome alt_id: MIM:257910 synonym: "Oculopalatocerebral Dwarfism" EXACT [] synonym: "OPC DWARFISM" EXACT [] xref: MESH:C564935 xref: RDO:0013727 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9000699 name: Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B alt_id: RDO:0001510 synonym: "apolipoprotein B 100, familial defective" EXACT [] synonym: "Apolipoprotein B 100, Familial Ligand Defective" EXACT [] synonym: "hypercholesterolemia due to arg3500 mutation of Apo B-100" EXACT [] xref: MESH:C536083 is_a: DOID:13810 ! familial hypercholesterolemia [Term] id: DOID:9000700 name: Feline Leukemia def: "A neoplastic disease of cats frequently associated with feline leukemia virus infection." [MESH:D016582] synonym: "Feline Leukemias" EXACT [] xref: MESH:D016582 is_a: DOID:1240 ! leukemia is_a: DOID:9005924 ! Cat Diseases is_a: DOID:9006644 ! Retroviridae Infections [Term] id: DOID:9000701 name: Acetyl-Coa Carboxylase Deficiency alt_id: MIM:613933 synonym: "ACACAD" EXACT [] synonym: "ACACA Deficiency" EXACT [] synonym: "ACC1 Deficiency" EXACT [] synonym: "acetyl-CoA carboxylase-alpha deficiency" EXACT [] xref: MESH:C562678 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9000702 name: Stuve-Wiedemann Syndrome 2 def: "This disease is an autosomal recessive lethal skeletal dysplasia characterized by short stature, small chest, bowing of the long bones, and neonatal cardiopulmonary and autonomous dysfunction." [MIM:619751] synonym: "STWS2" EXACT [] synonym: "STÜVE-WIEDEMANN SYNDROME 2" EXACT [] xref: MIM:619751 is_a: DOID:9004577 ! Stuve-Wiedemann Syndrome created_by: slaulede creation_date: 2022-03-28T16:42:55Z [Term] id: DOID:9000703 name: Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, and Cerebral Calcification alt_id: MIM:210050 synonym: "Cerebral Aneurysm-Cirrhosis Syndrome" EXACT [] xref: MESH:C565905 is_a: DOID:0060228 ! intracranial berry aneurysm is_a: DOID:182 ! calcinosis is_a: DOID:9675 ! pulmonary emphysema [Term] id: DOID:9000704 name: Lingual Thyroids def: "A condition characterized by the presence of rudimentary THYROID tissue at the base of the TONGUE. It is due to failed embryonic development and migration of thyroid tissue to its normal location. The lingual thyroid usually cannot maintain adequate hormone production thereby resulting in HYPOTHYROIDISM." [MESH:D046151] synonym: "lingual thyroid" EXACT [] xref: EFO:1001803 xref: MESH:D046151 is_a: DOID:8433 ! thyroid malformation [Term] id: DOID:9000706 name: Nonfunctional L-Gulonolactone Oxidase synonym: "nonfunctional gulo" EXACT [] xref: MESH:C565486 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9003737 ! Ascorbic Acid Deficiency [Term] id: DOID:9000708 name: Oocyte/Zygote/Embryo Maturation Arrest 16 synonym: "OZEMA16" EXACT [] synonym: "Preimplantation Embryonic Lethality 2" EXACT [] synonym: "PREMBL2" EXACT [] xref: MIM:617234 is_a: DOID:9004994 ! Embryo Loss is_a: DOID:9007456 ! Female Infertility [Term] id: DOID:9000709 name: Hereditary Ochronosis xref: MESH:C537862 is_a: DOID:14223 ! ochronosis [Term] id: DOID:9000710 name: Chromosome 7 Ring Syndrome synonym: "Ring chromosome 7" EXACT [] xref: MESH:C537813 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9000711 name: Duchenne Muscular Dystrophy, Mental Retardation, and Absence of ERG B-wave xref: RDO:9001249 is_a: DOID:1059 ! intellectual disability is_a: DOID:11723 ! Duchenne muscular dystrophy is_a: DOID:8499 ! night blindness created_by: rgd creation_date: 2016-09-07T00:00:00Z [Term] id: DOID:9000712 name: Trochlea of the Humerus, Aplasia of alt_id: MIM:191000 xref: MESH:C566022 is_a: DOID:0080001 ! bone disease [Term] id: DOID:9000713 name: Surgical Wound def: "An incision made during a surgical procedure." [MESH:D000072836] synonym: "Surgical Incision" EXACT [] synonym: "Surgical Incisions" EXACT [] synonym: "Surgical Wounds" EXACT [] xref: MESH:D000072836 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9000714 name: COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS synonym: "COMMAD" EXACT [] xref: MIM:617306 is_a: DOID:10629 ! microphthalmia is_a: DOID:12270 ! coloboma is_a: DOID:13533 ! osteopetrosis is_a: DOID:9001386 ! Albinism is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9008681 ! Deafness [Term] id: DOID:9000715 name: Suppressor of Tumorigenicity 3 alt_id: RDO:0008191 synonym: "CCTS" EXACT [] synonym: "CERVICAL CARCINOMA, TUMOR-SUPPRESSOR GENE INVOLVED IN" EXACT [] synonym: "ST3" EXACT [] synonym: "TSHL" EXACT [] synonym: "TUMOR-SUPPRESSOR GENE, HELA CELL TYPE" EXACT [] xref: MIM:191181 is_a: DOID:9003373 ! Uterine Cervical Neoplasms [Term] id: DOID:9000716 name: Immersion Foot def: "A condition of the feet produced by prolonged exposure of the feet to water. Exposure for 48 hours or more to warm water causes tropical immersion foot or warm-water immersion foot common in Vietnam where troops were exposed to prolonged or repeated wading in paddy fields or streams. Trench foot results from prolonged exposure to cold, without actual freezing. It was common in trench warfare during World War I, when soldiers stood, sometimes for hours, in trenches with a few inches of cold water in them. (Andrews' Diseases of the Skin, 8th ed, p27)" [MESH:D007102] synonym: "Immersion Feet" EXACT [] synonym: "Trench Feet" EXACT [] synonym: "Trench Foot" EXACT [] xref: MESH:D007102 is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:9000717 name: Familial Multiple Coagulation Factor Deficiency I alt_id: MIM:227300 alt_id: MIM:227310 synonym: "F5F8D" EXACT [] synonym: "F5F8D1" EXACT [] synonym: "Factor V And Factor VIII, Combined Deficiency Of" EXACT [] synonym: "Factor V And Factor VIII, Combined Deficiency Of, With Normal Protein C And Protein C Inhibitor" EXACT [] synonym: "FMFD1" EXACT [] synonym: "FMFD I" EXACT [] synonym: "MCFD1" EXACT [] synonym: "multiple coagulation factor deficiency I" EXACT [] xref: MESH:C565577 is_a: DOID:12134 ! factor VIII deficiency is_a: DOID:2216 ! factor V deficiency [Term] id: DOID:9000718 name: Ovalocytosis, Hereditary Hemolytic xref: MESH:C563480 xref: RDO:0012725 is_a: DOID:2373 ! hereditary elliptocytosis [Term] id: DOID:9000719 name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1 synonym: "MMIHS1" EXACT [] xref: MIM:249210 is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome created_by: mtutaj creation_date: 2021-05-28T13:25:32Z [Term] id: DOID:9000720 name: Tetramelic Monodactyly alt_id: MIM:187510 synonym: "Sommer-Hines syndrome" EXACT [] xref: GARD:3707 xref: MESH:C566066 xref: MONDO:0008544 xref: ORDO:2564 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9000721 name: Chromosome 2, Trisomy 2p13 p21 synonym: "Duplication 2p13 p21" EXACT [] synonym: "Trisomy 2p13 p21" EXACT [] xref: MESH:C535365 xref: RDO:0000447 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000722 name: Animal Hepatitis def: "INFLAMMATION of the LIVER in non-human animals." [MESH:D006520] synonym: "animal hepatitides" EXACT [] xref: MESH:D006520 is_a: DOID:2237 ! hepatitis is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9000723 name: Female Urogenital Diseases and Pregnancy Complications def: "Pathological processes of the female URINARY TRACT, the reproductive system (GENITALIA, FEMALE), and disorders related to PREGNANCY." [MESH:D005261] subset: RGD_JBrowse_slim xref: MESH:D005261 is_a: DOID:9009146 ! Urogenital Diseases [Term] id: DOID:9000724 name: Corneodermatoosseous Syndrome alt_id: MIM:122440 synonym: "CDO syndrome" EXACT [] synonym: "Epithelial corneal dystrophy and short stature" EXACT [] synonym: "Epithelial corneal dystrophy with skin and skeletal changes" EXACT [] xref: MESH:C536444 is_a: DOID:0060440 ! epithelial and subepithelial dystrophy is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital [Term] id: DOID:9000725 name: Radiohumeral Fusions with Other Skeletal and Craniofacial Anomalies synonym: "Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies" EXACT [] synonym: "RHFCA" EXACT [] xref: MIM:614416 is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000726 name: Bardet-Biedl Syndrome 2/6, Digenic xref: RDO:9001190 is_a: DOID:0110124 ! Bardet-Biedl syndrome 2 is_a: DOID:0110128 ! Bardet-Biedl syndrome 6 created_by: rgd creation_date: 2016-06-08T00:00:00Z [Term] id: DOID:9000727 name: Syncope def: "A transient loss of consciousness and postural tone caused by diminished blood flow to the brain (i.e., BRAIN ISCHEMIA). Presyncope refers to the sensation of lightheadedness and loss of strength that precedes a syncopal event or accompanies an incomplete syncope. (From Adams et al., Principles of Neurology, 6th ed, pp367-9)" [MESH:D013575] synonym: "Cardiogenic Syncope" EXACT [] synonym: "Cardiogenic Syncopes" EXACT [] synonym: "Carotid Sinus Syncope" EXACT [] synonym: "Carotid Sinus Syncopes" EXACT [] synonym: "Convulsive Syncope" EXACT [] synonym: "Convulsive Syncopes" EXACT [] synonym: "Deglutitional Syncope" EXACT [] synonym: "Deglutitional Syncopes" EXACT [] synonym: "Drop Attack" EXACT [] synonym: "Drop Attacks" EXACT [] synonym: "Effort Syncope" EXACT [] synonym: "Effort Syncopes" EXACT [] synonym: "Fainting" EXACT [] synonym: "Hyperventilation Syncope" EXACT [] synonym: "Hyperventilation Syncopes" EXACT [] synonym: "Micturition Syncope" EXACT [] synonym: "Micturition Syncopes" EXACT [] synonym: "Postural Syncope" EXACT [] synonym: "Postural Syncopes" EXACT [] synonym: "Presyncope" EXACT [] synonym: "Presyncopes" EXACT [] synonym: "Situational Syncope" EXACT [] synonym: "Situational Syncopes" EXACT [] synonym: "Stokes-Adams Syncope" EXACT [] synonym: "Stokes-Adams Syncopes" EXACT [] synonym: "Syncopal Episode" EXACT [] synonym: "Syncopal Episodes" EXACT [] synonym: "Syncopal Vertigo" EXACT [] synonym: "Syncopes" EXACT [] synonym: "Tussive Syncope" EXACT [] synonym: "Tussive Syncopes" EXACT [] synonym: "Vertigos, Syncopal" EXACT [] xref: MESH:D013575 is_a: DOID:9007650 ! Unconsciousness [Term] id: DOID:9000728 name: Traumatic Shock def: "Shock produced as a result of trauma." [MESH:D012774] xref: MESH:D012774 is_a: DOID:9001600 ! Wounds and Injuries is_a: DOID:9002549 ! Shock [Term] id: DOID:9000729 name: OPTIC ATROPHY-ATAXIA-PERIPHERAL NEUROPATHY-GLOBAL DEVELOPMENTAL DELAY SYNDROME xref: ClinVar:VCV000983267 is_a: DOID:5723 ! optic atrophy is_a: DOID:9004866 ! Ataxia is_a: DOID:9006079 ! Inherited Peripheral Neuropathy is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2020-12-15T14:24:00Z [Term] id: DOID:9000730 name: Al-Gazali Syndrome alt_id: MIM:609465 synonym: "ALGAZ" EXACT [] xref: MESH:C536817 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000732 name: Cone-Rod Dystrophy and Hearing Loss synonym: "CRDHL" EXACT [] xref: EFO:0009151 xref: MIM:PS617236 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9000733 name: Joubert Syndrome 40 def: "An autosomal recessive neurodevelopmental disorder characterized by developmental delay, postaxial polydactyly, subtle midline notching or clefting of the upper lip, hypotonia, and the 'molar tooth sign' on brain imaging. Caused by compound heterozygous mutation in the IFT74 gene on chromosome 9p21. (OMIM)" [] synonym: "JBTS40" EXACT [] xref: MIM:619582 is_a: DOID:0050777 ! Joubert syndrome created_by: mtutaj creation_date: 2021-10-27T16:47:15Z [Term] id: DOID:9000734 name: Oligomenorrhea def: "Abnormally infrequent menstruation." [MESH:D009839] synonym: "Oligomenorrheas" EXACT [] xref: MESH:D009839 is_a: DOID:9004918 ! Menstruation Disturbances [Term] id: DOID:9000736 name: Chromosome 4q- Syndrome synonym: "Chromosome 4 Long Arm Deletion" EXACT [] synonym: "Chromosome 4, monosomy 4q" EXACT [] synonym: "Deletion 4q" EXACT [] synonym: "Monosomy 4q" EXACT [] xref: MESH:C537639 is_a: DOID:225 ! syndrome is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9000737 name: X-Linked Anemia without Thrombocytopenia alt_id: RDO:0013397 xref: MESH:C564429 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2355 ! anemia [Term] id: DOID:9000738 name: SHORT STATURE, OLIGODONTIA, DYSMORPHIC FACIES, AND MOTOR DELAY def: "This is a disease characterized by marked short stature, oligodontia, mild facial dysmorphism, and motor delay." [MIM:619234] synonym: "POLR3GL-RELATED CONDITION" EXACT [] synonym: "SOFM" EXACT [] xref: MIM:619234 is_a: DOID:13714 ! anodontia is_a: DOID:9001487 ! Facies is_a: DOID:9007661 ! Dwarfism created_by: slaulede creation_date: 2021-04-15T12:31:02Z [Term] id: DOID:9000739 name: Burkholderia Infections def: "Infections with bacteria of the genus BURKHOLDERIA." [MESH:D019121] synonym: "Burkholderia Infection" EXACT [] xref: EFO:1001280 xref: MESH:D019121 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9000740 name: ST Elevation Myocardial Infarction def: "A clinical syndrome defined by MYOCARDIAL ISCHEMIA symptoms; persistent elevation in the ST segments of the ELECTROCARDIOGRAM; and release of BIOMARKERS of myocardial NECROSIS (e.g., elevated TROPONIN levels). ST segment elevation in the ECG is often used in determining the treatment protocol (see also NON-ST ELEVATION MYOCARDIAL INFARCTION)." [MESH:D000072657] synonym: "ST Elevated Myocardial Infarction" EXACT [] synonym: "STEMI" EXACT [] synonym: "ST Segment Elevation Myocardial Infarction" EXACT [] xref: EFO:0008585 xref: MESH:D000072657 xref: RDO:0016116 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:9000741 name: Chromate Resistance alt_id: MIM:118840 xref: MESH:C566125 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9000742 name: Free Sialic Acid Storage Disease synonym: "N-acetylneuraminic acid (NANA) storage disease (NSD)" EXACT [] xref: MESH:C538523 is_a: DOID:3659 ! sialuria [Term] id: DOID:9000743 name: Microphthalmia/Coloboma 10 alt_id: OMIA:002151 synonym: "isolated microphthalmia and/or coloboma 10" EXACT [] synonym: "isolated microphthalmia with coloboma 10" EXACT [] synonym: "MCOPCB10" EXACT [] xref: MIM:616428 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma [Term] id: DOID:9000744 name: Congenital Disorder of Glycosylation Type IIr synonym: "CDG2R" EXACT [] synonym: "CDG IIr" EXACT [] synonym: "CDGIIR" EXACT [] xref: MIM:301045 is_a: DOID:0050571 ! congenital disorder of glycosylation type II created_by: mtutaj creation_date: 2020-04-22T08:44:21Z [Term] id: DOID:9000745 name: Focal Facial Dermal Dysplasia def: "A heterogenous group of genetic disorders characterized by scar-like atrophic lesions on the temple region of the head including preauricular area. Location of skin defects is likely related to defects in fusion of embryonic facial prominences during development of the face. Focal facial dermal dysplasia (FFDD) is generally divided into four subtypes according to the location of the lesions and inheritance pattern." [MESH:D000090303] synonym: "Facial Ectodermal Dysplasia" EXACT [] synonym: "Facial Ectodermal Dysplasias" EXACT [] synonym: "Focal Facial Dermal Dysplasias" EXACT [] xref: MESH:D000090303 xref: MIM:PS136500 is_a: DOID:2121 ! ectodermal dysplasia created_by: mtutaj creation_date: 2021-12-08T14:24:39Z [Term] id: DOID:9000746 name: Treponemal Infections alt_id: RDO:0004382 def: "Infections with bacteria of the genus TREPONEMA." [] synonym: "Treponemal Infection" EXACT [] xref: EFO:1001217 xref: MESH:D014211 is_a: DOID:9002423 ! Spirochaetales Infections [Term] id: DOID:9000747 name: Pneumorrhachis def: "Presence of air or gas within the spinal canal cavity (EPIDURAL SPACE; or SUBARACHNOID SPACE). It may result from traumatic injuries, emphysema, infection and other conditions. It can also develop as a complication of various SURGICAL PROCEDURES (e.g., MYELOGRAPHY)." [MESH:D063205] synonym: "Epidural Pneumorrhachi" EXACT [] synonym: "Epidural Pneumorrhachis" EXACT [] synonym: "Pneumorrhachi" EXACT [] synonym: "Subarachnoid Pneumorrhachi" EXACT [] synonym: "Subarachnoid Pneumorrhachis" EXACT [] xref: MESH:D063205 xref: RDO:0012115 is_a: DOID:319 ! spinal cord disease [Term] id: DOID:9000749 name: Cloverleaf Skull Micromelia Thoracic Dysplasia alt_id: MIM:156830 synonym: "Micromelic bone dysplasia with cloverleaf skull" EXACT [] xref: MESH:C536429 is_a: DOID:0080001 ! bone disease is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9000750 name: Waardenburg Syndrome Type 2F def: "Waardenburg Syndrome characterized by congenital or neonatal-onset sensorineural hearing loss and altered pigmentation of the iris, hair, and skin. Caused by homozygous mutation in the KITLG gene on chromosome 12q21." [MIM:619947] synonym: "WS2F" EXACT [] xref: MIM:619947 is_a: DOID:9002843 ! Waardenburg Syndrome Type 2 created_by: mtutaj creation_date: 2022-07-06T10:40:27Z [Term] id: DOID:9000751 name: Absence of Tibia alt_id: MIM:275220 synonym: "Bilateral absence of the tibia" EXACT [] synonym: "THM" EXACT [] synonym: "Tibial hemimelia" EXACT [] xref: MESH:C535563 xref: RDO:0000758 is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9000752 name: Skin/Hair/Eye Pigmentation, Variation In, 1 synonym: "BEY2" EXACT [] synonym: "BROWN EYE COLOR 2" EXACT [] synonym: "EYCL3" EXACT [] synonym: "EYE COLOR 3" EXACT [] synonym: "EYE COLOR, BLUE/NONBLUE" EXACT [] synonym: "EYE COLOR, BROWN/BLUE" EXACT [] synonym: "HAIR COLOR 3" EXACT [] synonym: "HCL3" EXACT [] synonym: "SHEP1" EXACT [] synonym: "SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR" EXACT [] synonym: "SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES" EXACT [] synonym: "SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES" EXACT [] xref: MIM:227220 xref: RDO:9001117 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities created_by: rgd creation_date: 2015-07-16T00:00:00Z [Term] id: DOID:9000754 name: Infantile Hypertrophic Pyloric Stenosis 3 alt_id: MIM:612017 synonym: "IHPS3" EXACT [] xref: MESH:C567435 is_a: DOID:12638 ! hypertrophic pyloric stenosis [Term] id: DOID:9000755 name: Asrar Facharzt Haque Syndrome xref: MESH:C535391 xref: RDO:0000484 is_a: DOID:225 ! syndrome is_a: DOID:786 ! laryngeal disease is_a: DOID:9001904 ! Sinus Histiocytosis is_a: DOID:9008513 ! Hoarseness [Term] id: DOID:9000756 name: Persistent Polyclonal B-Cell Lymphocytosis alt_id: MIM:606445 synonym: "PPBL" EXACT [] xref: MESH:C564707 is_a: DOID:9001779 ! Lymphocytosis [Term] id: DOID:9000757 name: Chromosome 20, Deletion 20p synonym: "Deletion 20p" EXACT [] synonym: "Monosomy 20p" EXACT [] xref: MESH:C535370 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9000758 name: Myopathy, Cataract, Hypogonadism Syndrome alt_id: RDO:0012801 synonym: "Ocular Myopathy with Hypogonadism" EXACT [] xref: MESH:C563578 is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:423 ! myopathy is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:83 ! cataract [Term] id: DOID:9000759 name: Avian Tuberculosis def: "A variety of TUBERCULOSIS affecting various birds, including chickens and ducks. It is caused by MYCOBACTERIUM AVIUM and characterized by tubercles consisting principally of epithelioid cells." [MESH:D014379] synonym: "Avian Tuberculoses" EXACT [] xref: EFO:1001440 xref: MESH:D014379 is_a: DOID:399 ! tuberculosis is_a: DOID:9006114 ! Bird Diseases [Term] id: DOID:9000760 name: Ovarian Dysgenesis 9 def: "Characterized by severe nonsyndromic primary ovarian insufficiency with primary amenorrhea, hypoplastic or absent ovaries, and delayed bone age. Caused by homozygous mutation in the SPIDR gene on chromosome 8q11." [MIM:619665] synonym: "ODG9" EXACT [] xref: MIM:619665 is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: mtutaj creation_date: 2021-12-22T09:30:15Z [Term] id: DOID:9000761 name: Deoxyguanosine Kinase Deficiency synonym: "Dguok-Related Mitochondrial Dna Depletion Syndrome" EXACT [] synonym: "Hepatocerebral Mitochondrial Dna Depletion Syndrome" EXACT [] synonym: "Mitochondrial Dna Depletion Syndrome, Hepatocerebral Form" EXACT [] xref: MESH:C580039 xref: RDO:0015878 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9000762 name: Immunodeficiency 88 def: "An autosomal recessive immune disorder characterized specifically by the development of disseminated mycobacterial disease following vaccination with BCG. Caused by homozygous mutation in the TBX21 gene on chromosome 17q21." [MIM:619630] synonym: "IMD88" EXACT [] synonym: "immunodeficiency 88, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:619630 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001415 ! Mycobacterium Infections created_by: mtutaj creation_date: 2021-11-30T10:50:21Z [Term] id: DOID:9000763 name: Focal Facial Dermal Dysplasia 4 synonym: "FFDD4" EXACT [] xref: MIM:614974 is_a: DOID:9000745 ! Focal Facial Dermal Dysplasia [Term] id: DOID:9000765 name: Laryngeal Abductor Paralysis with Cerebellar Ataxia and Motor Neuropathy alt_id: MIM:606183 xref: MESH:C565252 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:1389 ! polyneuropathy is_a: DOID:9000586 ! Vocal Cord Paralysis is_a: DOID:9006178 ! Dysphonia [Term] id: DOID:9000766 name: Incisional Hernia def: "Protrusion of tissue at or near the site of an incision from a previous surgery." [MESH:D000069290] synonym: "Incisional Hernias" EXACT [] synonym: "Postoperative Hernia" EXACT [] synonym: "Postoperative Hernias" EXACT [] xref: MESH:D000069290 is_a: DOID:1283 ! enterocele is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9000767 name: Chromosome 8, Trisomy 8q synonym: "Duplication 8q" EXACT [] synonym: "Trisomy 8q" EXACT [] xref: MESH:C538020 xref: RDO:0003954 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000768 name: Ruptured Aneurysm def: "The tearing or bursting of the weakened wall of the aneurysmal sac, usually heralded by sudden worsening pain. The great danger of a ruptured aneurysm is the large amount of blood spilling into the surrounding tissues and cavities, causing HEMORRHAGIC SHOCK." [MESH:D017542] synonym: "Ruptured Aneurysms" EXACT [] xref: MESH:D017542 is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:9000769 name: Parotid Neoplasms def: "Tumors or cancer of the PAROTID GLAND." [] synonym: "parotid neoplasm" EXACT [] xref: EFO:0003873 xref: MESH:D010307 is_a: DOID:10302 ! parotid disease is_a: DOID:9003216 ! Salivary Gland Neoplasms [Term] id: DOID:9000770 name: Giant Cell Carcinoma alt_id: RDO:0007162 def: "An epithelial neoplasm characterized by unusually large anaplastic cells. It is highly malignant with fulminant clinical course, bizarre histologic appearance and poor prognosis. It is most common in the lung and thyroid. (From Stedman, 25th ed & Segen, Dictionary of Modern Medicine, 1992)" [] synonym: "giant cell carcinomas" EXACT [] xref: MESH:D018286 is_a: DOID:4552 ! large cell carcinoma [Term] id: DOID:9000771 name: Diverticulosis of Bowel, Hernia, and Retinal Detachment alt_id: MIM:223330 xref: MESH:C565619 is_a: DOID:5327 ! retinal detachment is_a: DOID:9004681 ! Abdominal Hernia is_a: DOID:9007768 ! Colonic Diverticulosis [Term] id: DOID:9000772 name: Bronchial Hyperreactivity def: "Tendency of the smooth muscle of the tracheobronchial tree to contract more intensely in response to a given stimulus than it does in the response seen in normal individuals. This condition is present in virtually all symptomatic patients with asthma. The most prominent manifestation of this smooth muscle contraction is a decrease in airway caliber that can be readily measured in the pulmonary function laboratory." [MESH:D016535] synonym: "Bronchial Hyperreactivities" EXACT [] xref: MESH:D016535 is_a: DOID:1176 ! bronchial disease [Term] id: DOID:9000773 name: Congenital Facial Linear Porokeratosis alt_id: RDO:0004563 xref: MESH:C538641 is_a: DOID:3134 ! facial dermatosis is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9000774 name: Brain Death def: "A state of prolonged irreversible cessation of all brain activity, including lower brain stem function with the complete absence of voluntary movements, responses to stimuli, brain stem reflexes, and spontaneous respirations. Reversible conditions which mimic this clinical state (e.g., sedative overdose, hypothermia, etc.) are excluded prior to making the determination of brain death. (From Adams et al., Principles of Neurology, 6th ed, pp348-9)" [MESH:D001926] synonym: "Brain Dead" EXACT [] synonym: "Brain Deads" EXACT [] synonym: "Coma Depasse" EXACT [] synonym: "Irreversible Coma" EXACT [] xref: MESH:D001926 is_a: DOID:9000543 ! Death is_a: DOID:9006462 ! Coma is_a: DOID:936 ! brain disease [Term] id: DOID:9000775 name: Conduction Aphasia def: "A type of fluent aphasia characterized by an impaired ability to repeat one and two word phrases, despite retained comprehension. This condition is associated with dominant hemisphere lesions involving the arcuate fasciculus (a white matter projection between Broca's and Wernicke's areas) and adjacent structures. Like patients with Wernicke aphasia (APHASIA, WERNICKE), patients with conduction aphasia are fluent but commit paraphasic errors during attempts at written and oral forms of communication. (From Adams et al., Principles of Neurology, 6th ed, p482; Brain & Bannister, Clinical Neurology, 7th ed, p142; Kandel et al., Principles of Neural Science, 3d ed, p848)" [MESH:D018886] synonym: "Associative Aphasia" EXACT [] synonym: "Associative Aphasias" EXACT [] synonym: "Associative Dysphasia" EXACT [] synonym: "Associative Dysphasias" EXACT [] synonym: "Conduction Aphasias" EXACT [] synonym: "Conduction Dysphasia" EXACT [] synonym: "Conduction Dysphasias" EXACT [] xref: MESH:D018886 is_a: DOID:0060046 ! aphasia [Term] id: DOID:9000776 name: Hyperglycinemia, Lactic Acidosis, and Seizures synonym: "HGCLAS" EXACT [] synonym: "PDHLD" EXACT [] synonym: "PYRUVATE DEHYDROGENASE LIPOIC ACID SYNTHETASE DEFICIENCY" EXACT [] xref: MIM:614462 is_a: DOID:1826 ! epilepsy is_a: DOID:3650 ! lactic acidosis is_a: DOID:9002994 ! Pyruvate Metabolism, Inborn Errors [Term] id: DOID:9000777 name: Mitochondrial Cardiomyopathy def: "A group of diseases in which the dominant feature is the involvement of the cardiac muscle, associated with abnormal mitochondria function." [] synonym: "EXERCISE INTOLERANCE, CARDIOMYOPATHY, AND SEPTOOPTIC DYSPLASIA" NARROW [] synonym: "Mitochondrial cardiomyopathies" EXACT [] is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9000778 name: Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects alt_id: MIM:603642 xref: MESH:C566351 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9001510 ! Funnel Chest is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9296 ! cleft lip [Term] id: DOID:9000779 name: Hypospadias 1, X-Linked alt_id: MIM:300633 synonym: "Hysp1" EXACT [] xref: MESH:C567482 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10892 ! hypospadias [Term] id: DOID:9000780 name: Hexokinase Deficiency Hemolytic Anemia xref: MESH:C562995 xref: RDO:0012464 is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:9000781 name: Cyanosis def: "A bluish or purplish discoloration of the skin and mucous membranes due to an increase in the amount of deoxygenated hemoglobin in the blood or a structural defect in the hemoglobin molecule." [MESH:D003490] synonym: "Cyanoses" EXACT [] synonym: "HEMOGLOBIN DENVER" RELATED [] synonym: "HEMOGLOBIN FREIBURG" RELATED [] synonym: "Hemoglobin Kansas" RELATED [] synonym: "HEMOGLOBIN M (FREIBURG)" RELATED [] synonym: "HEMOGLOBIN REISSMANN ET AL." RELATED [] xref: MESH:D003490 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9000782 name: Charcot-Marie-Tooth Disease with Ptosis and Parkinsonism xref: MESH:C538079 xref: MIM:118301 xref: MONDO:0007312 is_a: DOID:0060260 ! ptosis is_a: DOID:10595 ! Charcot-Marie-Tooth disease is_a: DOID:13548 ! secondary Parkinson disease [Term] id: DOID:9000783 name: Lethal Congenital Nonspherocytic Hemolytic Anemia with Genital and Other Abnormalities alt_id: MIM:600461 xref: MESH:C563935 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000784 name: Fibrosis def: "Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury." [MESH:D005355] synonym: "fibroses" EXACT [] xref: EFO:0006890 xref: MESH:D005355 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9000785 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 2 synonym: "PFBMFT2" EXACT [] synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 2" EXACT [] xref: MIM:614743 xref: MONDO:0013879 is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related [Term] id: DOID:9000786 name: Cleft Palate with Ankyloglossia xref: MESH:C564442 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10944 ! tongue disease is_a: DOID:674 ! cleft palate [Term] id: DOID:9000787 name: Tachycardia, Atrioventricular Nodal Reentry def: "Abnormally rapid heartbeats caused by reentry of atrial impulse into the dual (fast and slow) pathways of ATRIOVENTRICULAR NODE. The common type involves a blocked atrial impulse in the slow pathway which reenters the fast pathway in a retrograde direction and simultaneously conducts to the atria and the ventricles leading to rapid HEART RATE of 150-250 beats per minute." [MESH:D013611] synonym: "Atrioventricular Nodal Reentrant Tachycardia" EXACT [] synonym: "AV Nodal Reentrant Tachycardia" EXACT [] xref: MESH:D013611 is_a: DOID:9007178 ! Reciprocating Tachycardia [Term] id: DOID:9000788 name: Preauricular Fistulae, Congenital alt_id: MIM:128700 synonym: "Ear Pits" EXACT [] synonym: "PAFC" EXACT [] xref: MESH:C563015 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000789 name: Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus synonym: "ADAMTS18-RELATED CONDITION" EXACT [] synonym: "MMCAT" EXACT [] xref: MIM:615458 is_a: DOID:10629 ! microphthalmia is_a: DOID:2566 ! corneal dystrophy is_a: DOID:9003591 ! Telecanthus is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9000790 name: Postoperative Complications def: "Pathologic processes that affect patients after a surgical procedure. They may or may not be related to the disease for which the surgery was done, and they may or may not be direct results of the surgery." [MESH:D011183] synonym: "Postoperative Complication" EXACT [] xref: MESH:D011183 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9000791 name: Mouth Breathing def: "Abnormal breathing through the mouth, usually associated with obstructive disorders of the nasal passages." [MESH:D009058] synonym: "Mouth Breathings" EXACT [] xref: MESH:D009058 is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9000792 name: Methemoglobinemia, Beta-Globin Type alt_id: MIM:617971 synonym: "erythremia, beta-globin type" EXACT [] synonym: "hemoglobin Athens-Georgia" RELATED [] synonym: "hemoglobin Birmingham (USA)" RELATED [] synonym: "hemoglobin D (Granada)" RELATED [] synonym: "HEMOGLOBIN DEACONESS" RELATED [] synonym: "HEMOGLOBIN M (AKITA)" RELATED [] synonym: "HEMOGLOBIN M (HYDE PARK)" RELATED [] synonym: "HEMOGLOBIN M (MILWAUKEE 1)" RELATED [] synonym: "HEMOGLOBIN M (MILWAUKEE 2)" RELATED [] synonym: "hemoglobin M (Radom)" RELATED [] synonym: "hemoglobin Sendagi" RELATED [] synonym: "hemoglobin Warsaw" RELATED [] synonym: "methemoglobinemia, beta type" EXACT [] xref: MESH:C564192 is_a: DOID:10783 ! methemoglobinemia [Term] id: DOID:9000793 name: Fine-Lubinsky Syndrome alt_id: MIM:601353 synonym: "Brachycephaly, deafness, cataract and mental retardation" EXACT [] synonym: "Brachycephaly, deafness, cataract, microstomia, and impaired intellectual development" EXACT [] synonym: "Brachycephaly, deafness, cataract, microstomia, and mental retardation" EXACT [] xref: MESH:C537933 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:83 ! cataract is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9000794 name: Sporadic Creutzfeldt-Jakob Disease xref: EFO:1000656 xref: MESH:C565143 is_a: DOID:11949 ! Creutzfeldt-Jakob disease [Term] id: DOID:9000795 name: Immunodeficiency 104 def: "An autosomal recessive disorder characterized by the onset of recurrent infections in early infancy. Caused by homozygous or compound heterozygous mutation in the interleukin-7 receptor gene (IL7R) on chromosome 5p13." [MIM:608971] synonym: "IL7R-RELATED CONDITION" EXACT [] synonym: "IMD104" EXACT [] synonym: "Immunodeficiency 104, severe combined" EXACT [] synonym: "severe combined immunodeficiency 104" EXACT [] xref: MIM:608971 xref: MONDO:0012163 is_a: DOID:0090014 ! severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive created_by: mtutaj creation_date: 2022-07-05T12:21:07Z [Term] id: DOID:9000798 name: High Serum Cholesterol, Familial synonym: "Hyperlipidema, Familial" EXACT [] synonym: "Hyperlipoproteinemia, type 2 A" EXACT [] xref: MESH:C538646 is_a: DOID:9005519 ! Hyperlipoproteinemia Type II [Term] id: DOID:9000799 name: Nodular Lymphocytic Vasculitis xref: MESH:C566008 xref: MIM:192310 xref: MONDO:0008640 is_a: DOID:75 ! lymphatic system disease is_a: DOID:865 ! vasculitis [Term] id: DOID:9000800 name: Iris Dysplasia Hypertelorism Deafness xref: MESH:C535537 xref: RDO:0000710 is_a: DOID:10908 ! hydrocephalus is_a: DOID:9001487 ! Facies is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000801 name: Chromosome 21, Tetrasomy 21q synonym: "Tetrasomy 21q" EXACT [] xref: MESH:C536793 xref: RDO:0002484 is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9000802 name: Lingual Nerve Injuries def: "Traumatic injuries to the LINGUAL NERVE. It may be a complication following dental treatments." [MESH:D061222] synonym: "Lingual Nerve Contusion" EXACT [] synonym: "Lingual Nerve Contusions" EXACT [] synonym: "Lingual Nerve Injury" EXACT [] synonym: "Lingual Nerve Transection" EXACT [] synonym: "Lingual Nerve Transections" EXACT [] synonym: "Lingual Neuropathy, Traumatic" EXACT [] xref: MESH:D061222 xref: RDO:0010059 is_a: DOID:9006864 ! Trigeminal Nerve Injuries [Term] id: DOID:9000803 name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5 def: "A form of visceral myopathy characterized by significant inter- and intrafamilial variability, with the most severely affected patients exhibiting prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization. Caused by heterozygous mutation in the ACTG2 gene on chromosome 2p13. (OMIM)" [] synonym: "MMIHS5" EXACT [] xref: EFO:0020038 xref: MIM:619431 is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome created_by: mtutaj creation_date: 2021-07-16T16:19:50Z [Term] id: DOID:9000804 name: Intellectual Developmental Disorder with Seizures and Language Delay def: "This disease is characterized by global developmental delay with speech and language impairment and onset of seizures usually in the first few years of life." [MIM:619000] synonym: "IDDSELD" EXACT [] synonym: "SETD1B-ASSOCIATED DISORDER" EXACT [] synonym: "SETD1B-RELATED CONDITION" EXACT [] xref: MIM:619000 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:9005466 ! Language Development Disorders created_by: mtutaj creation_date: 2020-09-18T10:13:51Z [Term] id: DOID:9000805 name: Femoral Neoplasms alt_id: RDO:0005591 def: "New abnormal growth of tissue in the FEMUR." [] synonym: "femoral neoplasm" EXACT [] synonym: "neoplasm of femur" EXACT [] xref: MESH:D005266 is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:9000806 name: Metaphyseal Anadysplasia 2 alt_id: MIM:613073 synonym: "MANDP2" EXACT [] synonym: "METAPHYSEAL ANADYSPLASIA 2, AUTOSOMAL RECESSIVE" NARROW [] xref: MESH:C567771 is_a: DOID:9001193 ! Metaphyseal Anadysplasia [Term] id: DOID:9000807 name: Megaduodenum synonym: "Fetal megacystis" EXACT [] synonym: "Megacystis" EXACT [] xref: MESH:C536139 xref: RDO:0001591 is_a: DOID:9001984 ! Fetal Diseases [Term] id: DOID:9000808 name: Hypercholesterolemia def: "A condition with abnormally high levels of CHOLESTEROL in the blood. It is defined as a cholesterol value exceeding the 95th percentile for the population." [MESH:D006937] synonym: "elevated cholesterol" EXACT [] synonym: "Elevated Cholesterols" EXACT [] synonym: "High Cholesterol Level" EXACT [] synonym: "High Cholesterol Levels" EXACT [] synonym: "Hypercholesteremia" EXACT [] synonym: "Hypercholesteremias" EXACT [] synonym: "hypercholesterolaemia" EXACT [] synonym: "hypercholesterolemias" EXACT [] synonym: "HYPERCHOLESTEROLEMIA, SUSCEPTIBILITY TO" RELATED [] xref: MESH:D006937 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:9000810 name: HYPERTRIGLYCERIDEMIA 1 synonym: "Familial Hypertriglyceridemia" EXACT [] synonym: "HYPERTRIGLYCERIDEMIA, FAMILIAL" EXACT [] synonym: "HYTG1" EXACT [] xref: MIM:145750 is_a: DOID:9006599 ! Hypertriglyceridemia created_by: slaulede creation_date: 2021-08-13T13:04:54Z [Term] id: DOID:9000812 name: Acroosteolysis Dominant Type xref: MESH:C535663 is_a: DOID:9001402 ! Acro-Osteolysis [Term] id: DOID:9000813 name: Spastic Quadriplegia, Retinitis Pigmentosa, and Mental Retardation alt_id: MIM:270950 xref: MESH:C564808 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:12835 ! quadriplegia [Term] id: DOID:9000814 name: Mucopolysaccharidosis X def: "An autosomal recessive childhood-onset disorder associated with disproportionate short-trunk short stature, and skeletal, cardiac and ophthalmologic abnormalities. Caused by homozygous or compound heterozygous mutation in the ARSK gene, which encodes arylsulfatase K, on chromosome 5q15." [MIM:619698] synonym: "ARSK deficiency" EXACT [] synonym: "arylsulfatase K deficiency" EXACT [] synonym: "MPS10" EXACT [] synonym: "mucopolysaccharidosis type X" EXACT [] xref: MIM:619698 is_a: DOID:12798 ! mucopolysaccharidosis created_by: mtutaj creation_date: 2022-01-10T10:20:27Z [Term] id: DOID:9000815 name: Aortic Calcification def: "Calcification of the aorta involves early deposition of calcium in the formation of an atherosclerotic plaque." [] synonym: "AAC" RELATED [] synonym: "abdominal aortic artery calcification" NARROW [] synonym: "abdominal aortic calcification" NARROW [] synonym: "aorta calcification" EXACT [] synonym: "aortic artery calcification" EXACT [] synonym: "thoracic aortic artery calcification" NARROW [] synonym: "thoracic aortic calcification" NARROW [] xref: EFO:0004859 xref: EFO:0010274 is_a: DOID:0111582 ! hereditary arterial and articular multiple calcification syndrome is_a: DOID:9006332 ! Vascular Calcification [Term] id: DOID:9000816 name: Chronic Pericardial Effusion alt_id: MIM:260900 synonym: "cholesterol pericarditis" EXACT [] xref: MESH:C564895 is_a: DOID:118 ! pericardial effusion is_a: DOID:1787 ! pericarditis [Term] id: DOID:9000817 name: Disease Attributes def: "Clinical characteristics of disease or illness." [MESH:D020969] synonym: "Disease Attribute" EXACT [] xref: MESH:D020969 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9000818 name: vitreous prolapse def: "This disease involves prolapse of the vitreous material through a defect in the zonule around the lens and into the anterior chamber." [EFO:0008625] synonym: "intraocular content prolapse" EXACT [] synonym: "prolapse of the intraocular contents" EXACT [] synonym: "prolapse of vitreous body" EXACT [] xref: EFO:0008625 is_a: DOID:9720 ! vitreous disease created_by: slaulede creation_date: 2022-12-13T17:05:03Z [Term] id: DOID:9000819 name: Stickler Syndrome, Type VI def: "A disease characterized by early-onset progressive hearing loss and progressive myopia, with variable manifestation of facial dysmorphism and skeletal anomalies. Caused by homozygous or compound heterozygous mutation in the COL9A3 gene on chromosome 20q13." [MIM:620022] synonym: "STL6" EXACT [] xref: MIM:620022 is_a: DOID:0080046 ! Stickler syndrome created_by: mtutaj creation_date: 2022-09-06T08:42:23Z [Term] id: DOID:9000820 name: GSD IV, Classic Hepatic xref: MESH:C565539 xref: RDO:0014147 is_a: DOID:2750 ! glycogen storage disease IV [Term] id: DOID:9000821 name: Myocardial Bridging def: "A malformation that is characterized by a muscle bridge over a segment of the CORONARY ARTERIES. Systolic contractions of the muscle bridge can lead to narrowing of coronary artery; coronary compression; MYOCARDIAL ISCHEMIA; MYOCARDIAL INFARCTION; and SUDDEN CARDIAC DEATH." [MESH:D054084] synonym: "Myocardial Bridgings" EXACT [] xref: MESH:D054084 xref: RDO:0007656 is_a: DOID:9000018 ! Coronary Vessel Anomalies [Term] id: DOID:9000823 name: Diaphragmatic Defects, Limb Deficiencies, and Ossification Defects Of Skull alt_id: MIM:601163 synonym: "Froster syndrome" EXACT [] xref: MESH:C563380 is_a: DOID:0080006 ! bone development disease is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9000824 name: Dysautonomia Like Disorder alt_id: MIM:224000 xref: MESH:C535728 is_a: DOID:9003171 ! Primary Dysautonomias [Term] id: DOID:9000825 name: Neurothekeoma def: "A benign myxoma of cutaneous nerve sheath origin. Theke is from the Greek theke, sheath. (From Stedman, 25th ed)" [MESH:D018321] synonym: "Nerve Sheath Myxoma" EXACT [] synonym: "Nerve Sheath Myxomas" EXACT [] synonym: "Neurotheceoma" EXACT [] synonym: "Neurotheceomas" EXACT [] synonym: "Neurothecoma" EXACT [] synonym: "Neurothecomas" EXACT [] synonym: "Neurothekeomas" EXACT [] xref: EFO:1000394 xref: MESH:D018321 is_a: DOID:9003253 ! Myxoma is_a: DOID:9004217 ! Nerve Sheath Neoplasms [Term] id: DOID:9000826 name: Sternocostoclavicular Hyperostosis alt_id: RDO:0006854 def: "A rare, benign rheumatologic disorder or syndrome characterized by hyperostosis and soft tissue ossification between the clavicles and the anterior part of the upper ribs. It is often associated with the dermatologic disorder palmoplantar pustulosis, particularly in Japan. Careful diagnosis is required to distinguish it from psoriatic arthritis, OSTEITIS DEFORMANS, and other diseases. Spondylitis of pustulosis palmaris et plantaris is one of the possible causes; also, evidence suggests one origin may be bone infection. Bone imaging is especially useful for diagnosis. It was originally described by Sonozaki in 1974." [MESH:D015218] synonym: "Sternocostoclavicular Hyperostoses" EXACT [] xref: MESH:D015218 is_a: DOID:1575 ! rheumatic disease is_a: DOID:205 ! hyperostosis [Term] id: DOID:9000827 name: Primary Retinal Dysplasia synonym: "PRD" EXACT [] xref: MIM:312550 xref: RDO:0008712 is_a: DOID:9006597 ! Retinal Dysplasia [Term] id: DOID:9000828 name: Human Spumaretrovirus Infection synonym: "Human spumaretroviridae infection" EXACT [] xref: MESH:C536069 xref: RDO:0001492 is_a: DOID:9006644 ! Retroviridae Infections [Term] id: DOID:9000829 name: Acute Rheumatism xref: MESH:C538407 xref: RDO:0004385 is_a: DOID:1575 ! rheumatic disease [Term] id: DOID:9000831 name: Hypokinesia def: "Slow or diminished movement of body musculature. It may be associated with BASAL GANGLIA DISEASES; MENTAL DISORDERS; prolonged inactivity due to illness; and other conditions." [MESH:D018476] synonym: "Antiorthostatic Hypokinesia" EXACT [] synonym: "Antiorthostatic Hypokinesias" EXACT [] synonym: "Bradykinesia" EXACT [] synonym: "Bradykinesias" EXACT [] synonym: "Hypodynamia" EXACT [] xref: MESH:D018476 is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9000832 name: Congenital Neuropathy with Arthrogryposis Multiplex alt_id: MIM:162370 synonym: "Congenital non-progressive peripheral neuropathy with arthrogryposis multiplex" EXACT [] xref: MESH:C535714 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:9000833 name: X Chromosome, Trisomy Xp3 synonym: "Duplication Xp3" EXACT [] synonym: "Trisomy Xp3" EXACT [] xref: MESH:C536756 xref: RDO:0002436 is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000834 name: Chitty Hall Baraitser Syndrome alt_id: MIM:601351 synonym: "Deafness, femoral epiphyseal dysplasia, short stature and developmental delay" EXACT [] synonym: "Growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction" EXACT [] xref: MESH:C535928 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:13929 ! lacrimal duct obstruction is_a: DOID:225 ! syndrome is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9000835 name: Anterior Diaphragmatic Hernia alt_id: MIM:306950 synonym: "Diaphragmatic hernia 5, X-linked" EXACT [] synonym: "DIH5" EXACT [] xref: MESH:C564413 is_a: DOID:3827 ! congenital diaphragmatic hernia [Term] id: DOID:9000836 name: Diaphanospondylodysostosis alt_id: MIM:608022 synonym: "defect in vertebral ossification with nephrogenic rests" EXACT [] xref: MESH:C564305 is_a: DOID:1934 ! dysostosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000837 name: Esophageal Stenosis def: "A stricture of the ESOPHAGUS. Most are acquired but can be congenital." [MESH:D004940] synonym: "Esophageal Stenoses" EXACT [] synonym: "Esophageal Stricture" EXACT [] xref: MESH:D004940 is_a: DOID:6050 ! esophageal disease [Term] id: DOID:9000838 name: Growth Mental Deficiency Syndrome of Myhre synonym: "HERITABLE THORACIC AORTIC DISEASE" NARROW [] synonym: "HERITABLE THORACIC AORTIC DISEASE WITHOUT JUVENILE POLYPOSIS AND HEREDITARY HEMORRHAGIC TELANGIECTASIA" NARROW [] synonym: "LAPS" EXACT [] synonym: "Laps Syndrome" EXACT [] synonym: "Laryngotracheal Stenosis, Arthropathy, Prognathism, and Short Stature" EXACT [] synonym: "Myhre syndrome" EXACT [] synonym: "MYHRS" EXACT [] xref: MESH:C537620 xref: MIM:139210 xref: MONDO:0007688 xref: NCI:C123815 is_a: DOID:1059 ! intellectual disability is_a: DOID:11383 ! cryptorchidism is_a: DOID:9001487 ! Facies is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9000839 name: Ichthyosis Hystrix Gravior alt_id: MIM:146600 synonym: "IHL" EXACT [] synonym: "Lambert type ichthyosis" EXACT [] synonym: "Lambert type ichthyosis hystrix" EXACT [] synonym: "Lambert type of ichthyosis hystrix" EXACT [] synonym: "Porcupine man" EXACT [] xref: MESH:C536087 is_a: DOID:2615 ! papilloma is_a: DOID:9000971 ! Ichthyosis Hystrix [Term] id: DOID:9000840 name: Herpes Simplex Encephalitis 7 synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7" RELATED [] synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 7" RELATED [] synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 5" RELATED [] synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7" RELATED [] synonym: "IIAE7" EXACT [] xref: MIM:616532 is_a: DOID:9003870 ! Herpes Simplex Encephalitis created_by: rgd creation_date: 2017-07-11T00:00:00Z [Term] id: DOID:9000841 name: Community-Acquired Infections def: "Any infection acquired in the community, that is, contrasted with those acquired in a health care facility (CROSS INFECTION). An infection would be classified as community-acquired if the patient had not recently been in a health care facility or been in contact with someone who had been recently in a health care facility." [MESH:D017714] synonym: "Community-Acquired Infection" EXACT [] xref: MESH:D017714 xref: RDO:0007072 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:9000842 name: Proteostasis Deficiencies def: "Disorders caused by imbalances in the protein homeostasis network - synthesis, folding, and transport of proteins; post-translational modifications; and degradation or clearance of misfolded proteins." [MESH:D057165] synonym: "Protein Folding Disease" EXACT [] synonym: "protein folding diseases" EXACT [] synonym: "Protein Folding Disorder" EXACT [] synonym: "Protein Folding Disorders" EXACT [] synonym: "Protein Misfolding Disease" EXACT [] synonym: "Protein Misfolding Diseases" EXACT [] synonym: "Protein Misfolding Disorder" EXACT [] synonym: "Protein Misfolding Disorders" EXACT [] synonym: "Proteostasis Deficiency" EXACT [] synonym: "Proteostasis Dysfunction" EXACT [] synonym: "proteostasis dysfunctions" EXACT [] xref: MESH:D057165 is_a: DOID:0014667 ! disease of metabolism [Term] id: DOID:9000843 name: Acne Conglobata def: "Severe and chronic form of acne characterized by large, burrowing abscesses associated with disfigurement." [MESH:D000069316] synonym: "Acne Conglobatas" EXACT [] xref: MESH:D000069316 is_a: DOID:6543 ! acne [Term] id: DOID:9000844 name: Oculopharyngeal Muscular Dystrophy 2 def: "An autosomal dominant muscle disorder characterized by early-onset ptosis, ophthalmoplegia, dysphagia, variable respiratory insufficiency, and proximal limb muscle weakness. Caused by heterozygous mutation in the HNRNPA2B1 gene on chromosome 7p15." [MIM:620460] synonym: "OPMD2" EXACT [] xref: MIM:620460 is_a: DOID:929 ! myopathy of extraocular muscle is_a: DOID:9884 ! muscular dystrophy created_by: mtutaj creation_date: 2023-08-04T10:00:38Z [Term] id: DOID:9000846 name: Say Syndrome alt_id: MIM:181180 synonym: "cleft palate large ears small head" EXACT [] synonym: "cleft palate, microcephaly, large ears, and short stature" EXACT [] synonym: "Say Barber Hobbs syndrome" EXACT [] xref: MESH:C536621 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000847 name: Burnett Schwartz Berberian Syndrome synonym: "Amelogenesis imperfecta, hypoplastic-hypomaturation, X-linked 2" EXACT [] synonym: "Atrophodermia reticulata" EXACT [] synonym: "Atrophodermia Reticulata Symmetrica Faciei" EXACT [] synonym: "Atrophodermia vermiculata" EXACT [] synonym: "Folliculitis ulerythematosa" EXACT [] synonym: "Folliculitis ulerythematosa reticulata" EXACT [] synonym: "Honeycomb atrophy" EXACT [] synonym: "Keratosis pilaris" EXACT [] synonym: "Keratosis Pilaris Atrophicans Facies" EXACT [] synonym: "Ulerythema ophryogenes" EXACT [] synonym: "Ulerythema ophryogenesis" EXACT [] synonym: "Ulerythema ophryogenes with multiple congenital anomalies" EXACT [] xref: MESH:C537412 xref: RDO:0003253 is_a: DOID:0110059 ! X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 is_a: DOID:225 ! syndrome is_a: DOID:2734 ! keratosis follicularis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000848 name: Charcot-Marie-Tooth Disease Type 1H def: "An autosomal dominant peripheral sensorimotor neuropathy with onset usually in adulthood (third to fifth decades). Affected individuals present with foot deformities, upper or lower limb sensory disturbances, and motor deficits, mainly impaired gait. Caused by heterozygous mutation in the gene encoding fibulin-5 (FBLN5) on chromosome 14q32." [MIM:619764] synonym: "Charcot-Marie-Tooth neuropathy type 1H" EXACT [] synonym: "CMT1H" EXACT [] synonym: "demyelinating Charcot-Marie-Tooth disease type 1H" EXACT [] synonym: "hereditary motor and sensory neuropathy, IH" EXACT [] synonym: "hereditary neuropathy with or without age-related macular degeneration" EXACT [] synonym: "HNARMD" EXACT [] xref: MIM:619764 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 created_by: mtutaj creation_date: 2022-03-07T10:19:50Z [Term] id: DOID:9000849 name: Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome xref: MIM:616108 xref: RDO:9001211 is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9000850 name: Junctional Epidermolysis Bullosa 1A, Intermediate synonym: "JEB1A" EXACT [] synonym: "junctional epidermolysis bullosa 1A, generalized intermediate" EXACT [] synonym: "junctional epidermolysis bullosa 1A, non-Herlitz type" EXACT [] xref: MIM:226650 is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type created_by: mtutaj creation_date: 2022-06-07T11:18:59Z [Term] id: DOID:9000851 name: Congenital Cerebral Granulomas alt_id: MIM:306300 xref: MESH:C537294 is_a: DOID:9002019 ! Granuloma is_a: DOID:936 ! brain disease [Term] id: DOID:9000852 name: Severe Congenital Neutropenia 9, Autosomal Dominant def: "Characterized by onset of neutropenia in the first years of life. Caused by heterozygous mutation in the CLPB gene on chromosome 11q13." [MIM:619813] synonym: "SCN9" EXACT [] xref: MIM:619813 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia created_by: mtutaj creation_date: 2022-04-12T14:34:15Z [Term] id: DOID:9000853 name: Acropectoral Syndrome alt_id: MIM:605967 synonym: "ACRPS" EXACT [] synonym: "ACRP SYNDROME" EXACT [] synonym: "DUNDAR ACROPECTORAL SYNDROME" EXACT [] synonym: "Syndactyly, preaxial polydactyly, and sternal deformity" EXACT [] xref: MESH:C535664 xref: RDO:0000913 is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9000854 name: Lethal Congenital Contracture Syndrome 7 alt_id: RDO:9001627 def: "An axoglial form of arthrogryposis multiplex congenita, that is characterized by congenital distal joint contractures, polyhydramnios, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. (OMIM)" [] synonym: "LCCS7" EXACT [] xref: MIM:616286 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:9000855 name: Experimental Radiation Injuries def: "Experimentally produced harmful effects of ionizing or non-ionizing RADIATION in CHORDATA animals." [MESH:D011833] synonym: "Experimental Radiation Injury" EXACT [] xref: MESH:D011833 is_a: DOID:9000111 ! Radiation Injuries is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9000856 name: FG Syndrome 5 alt_id: MIM:300581 synonym: "FGS5" EXACT [] xref: MESH:C564480 is_a: DOID:14711 ! FG syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000857 name: Chromosome 17 Trisomy synonym: "Chromosome 17 duplication" EXACT [] synonym: "Trisomy 17" EXACT [] synonym: "Trisomy 17 mosaicism" EXACT [] xref: MESH:C538044 xref: NCI:C37865 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000858 name: Idiopathic Basal Ganglia Calcification 4 alt_id: RDO:9000194 synonym: "IBGC4" EXACT [] xref: MIM:615007 is_a: DOID:0060230 ! basal ganglia calcification [Term] id: DOID:9000859 name: Infectious Skin Diseases alt_id: RDO:0005153 def: "Skin diseases caused by bacteria, fungi, parasites, or viruses." [MESH:D012874] synonym: "Infectious Skin Disease" EXACT [] xref: MESH:D012874 is_a: DOID:37 ! skin disease [Term] id: DOID:9000860 name: Glucose-Stimulated Secretory Diarrhea, with Common Variable Immunodeficiency alt_id: MIM:125890 xref: MESH:C565099 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9000862 name: Glaucoma 1, Open Angle, N alt_id: MIM:611274 synonym: "GLC1N" EXACT [] xref: MESH:C566977 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9000863 name: Niemann-Pick Disease, Intermediate, with Visceral Involvement and Rapid Progression xref: MESH:C567267 is_a: DOID:0070112 ! Niemann-Pick disease type B [Term] id: DOID:9000864 name: Lymphokine Deficiency alt_id: MIM:247650 xref: MESH:C565428 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9000865 name: Amastia synonym: "absent breasts and nipples" EXACT [] synonym: "amazia" RELATED [] synonym: "athelia" RELATED [] synonym: "complete absence of breasts" EXACT [] xref: MESH:C562989 xref: MIM:PS113700 is_a: DOID:3463 ! breast disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9000866 name: Mauriac Syndrome synonym: "Dwarfism-hepatomegaly-obesity-juvenile diabetes syndrome" EXACT [] synonym: "Mauriac's syndrome" EXACT [] is_a: DOID:9002661 ! Diabetes Complications is_a: DOID:9744 ! type 1 diabetes mellitus created_by: rgd creation_date: 2016-11-09T00:00:00Z [Term] id: DOID:9000868 name: Immunodeficiency 86 def: "An autosomal recessive immunologic disorder characterized by susceptibility to mycobacterial disease after exposure to BCG vaccine. Caused by homozygous mutation in the SPPL2A gene on chromosome 15q21. (OMIM)" [] synonym: "IMD86" EXACT [] synonym: "immunodeficiency 86, mycobacteriosis" EXACT [] xref: MIM:619549 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001415 ! Mycobacterium Infections created_by: mtutaj creation_date: 2021-10-15T14:31:16Z [Term] id: DOID:9000869 name: Cole Disease synonym: "COLED" EXACT [] synonym: "GUTTATE HYPOPIGMENTATION AND PUNCTATE PALMOPLANTAR KERATODERMA WITH OR WITHOUT ECTOPIC CALCIFICATION" EXACT [] xref: MIM:615522 is_a: DOID:182 ! calcinosis is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9005660 ! Hypopigmentation [Term] id: DOID:9000871 name: Glossopharyngeal Nerve Injuries alt_id: RDO:0010068 def: "Traumatic injuries to the GLOSSOPHARYNGEAL NERVE." [MESH:D061287] synonym: "Cranial Nerve IX Injury" EXACT [] synonym: "Glossopharyngeal Nerve Avulsion" EXACT [] synonym: "Glossopharyngeal Nerve Avulsions" EXACT [] synonym: "Glossopharyngeal Nerve Contusion" EXACT [] synonym: "Glossopharyngeal Nerve Contusions" EXACT [] synonym: "Glossopharyngeal Nerve Injury" EXACT [] synonym: "Glossopharyngeal Nerve Transection" EXACT [] synonym: "Glossopharyngeal Nerve Transections" EXACT [] synonym: "Glossopharyngeal Nerve Trauma" EXACT [] synonym: "Glossopharyngeal Nerve Traumas" EXACT [] synonym: "Ninth Cranial Nerve Injuries" EXACT [] synonym: "Ninth Cranial Nerve Injury" EXACT [] synonym: "Ninth Nerve Trauma" EXACT [] synonym: "Ninth-Nerve Traumas" EXACT [] synonym: "Traumatic Glossopharyngeal Neuropathies" EXACT [] synonym: "Traumatic Glossopharyngeal Neuropathy" EXACT [] synonym: "Traumatic Ninth-Nerve Palsies" EXACT [] synonym: "Traumatic Ninth Nerve Palsy" EXACT [] xref: MESH:D061287 is_a: DOID:3418 ! glossopharyngeal nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9000872 name: Charcot-Marie-Tooth Disease Type 6C synonym: "CMT6C" EXACT [] synonym: "hereditary motor and sensory neuropathy type VIC" EXACT [] synonym: "hereditary motor and sensory neuropathy type VIC, with optic atrophy" EXACT [] synonym: "HMSN6C" EXACT [] synonym: "HMSN VIC" EXACT [] xref: MIM:618511 is_a: DOID:0080068 ! Charcot-Marie-Tooth disease type 6 created_by: mtutaj creation_date: 2019-09-09T09:47:33Z [Term] id: DOID:9000873 name: Adenoviridae Infections def: "Virus diseases caused by the ADENOVIRIDAE." [MESH:D000257] synonym: "Adenoviridae Infection" EXACT [] synonym: "Adenovirus Infection" EXACT [] synonym: "Adenovirus Infections" EXACT [] xref: EFO:1001259 xref: MESH:D000257 xref: RDO:0004743 is_a: DOID:9000251 ! DNA Virus Infections [Term] id: DOID:9000874 name: Hyperparathyroidism, Neonatal Severe Primary alt_id: MIM:239200 synonym: "HYPERPARATHYROIDISM, NEONATAL SEVERE" EXACT [] synonym: "NHPT" EXACT [] synonym: "NSHPT" EXACT [] synonym: "NSPH" EXACT [] xref: MESH:C563375 xref: NCI:C131853 is_a: DOID:11202 ! primary hyperparathyroidism is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9000875 name: Fructose Metabolism, Inborn Errors def: "Inherited abnormalities of fructose metabolism, which include three known autosomal recessive types: hepatic fructokinase deficiency (essential fructosuria), hereditary fructose intolerance, and hereditary fructose-1,6-diphosphatase deficiency. Essential fructosuria is a benign asymptomatic metabolic disorder caused by deficiency in fructokinase, leading to decreased conversion of fructose to fructose-1-phosphate and alimentary hyperfructosemia, but with no clinical dysfunction; may produce a false-positive diabetes test." [MESH:D015318] xref: MESH:D015318 xref: RDO:0004002 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9000876 name: DWORSCHAK-PUNETHA NEURODEVELOPMENTAL SYNDROME def: "This disease is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity." [MIM:619955] synonym: "DWOPNED" EXACT [] synonym: "PLXNA1-RELATED CONDITION" EXACT [] synonym: "PLXNA1-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:619955 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-12-06T11:54:16Z [Term] id: DOID:9000877 name: Rhinosinusitis, Allergic Fungal def: "Inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES due to an allergic reaction to aerosolized environmental fungi, usually of the dematiaceous species, in an immunocompetent host." [] synonym: "AFRS" EXACT [] synonym: "AFS" RELATED [] synonym: "Allergic Fungal Sinusitis" RELATED [] is_a: DOID:9004198 ! Allergic Rhinosinusitis [Term] id: DOID:9000879 name: Negative Rheumatoid Factor Polyarthritis synonym: "RF-ve CP" EXACT [] synonym: "Rheumatoid factor negative erosive chronic polyarthritis" EXACT [] xref: MESH:C538347 xref: RDO:0004314 is_a: DOID:848 ! arthritis [Term] id: DOID:9000880 name: Cataract Ataxia Deafness alt_id: MIM:212710 synonym: "Begeer syndrome" EXACT [] synonym: "Cataract-ataxia-deafness-retardation syndrome" EXACT [] synonym: "Cataract ataxia deafness syndrome" EXACT [] synonym: "Polyneuropathy-Cataract-Deafness Syndrome" EXACT [] xref: MESH:C538283 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:83 ! cataract is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9000882 name: Pseudohypoparathyroidism Type IC alt_id: MIM:612462 alt_id: RDO:0004656 synonym: "PHP1C" EXACT [] synonym: "PHP IC" EXACT [] synonym: "Pseudohypoparathyroidism Type 1C" EXACT [] xref: MESH:C548076 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:9000883 name: Familial Reactive Perforating Collagenosis alt_id: MIM:216700 xref: MESH:C565687 is_a: DOID:854 ! collagen disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9000884 name: Rhabdomyolysis alt_id: MIM:620235 def: "Necrosis or disintegration of skeletal muscle often followed by myoglobinuria." [MESH:D012206] synonym: "OBSCN-RELATED CONDITION" EXACT [] synonym: "RHABDO1" RELATED [] synonym: "Rhabdomyolyses" EXACT [] synonym: "Rhabdomyolysis, susceptibility to, 1" RELATED [] xref: EFO:0003867 xref: MESH:D012206 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9000885 name: Macrosomia with Lethal Microphthalmia alt_id: MIM:248110 synonym: "Macrosomia microphthalmia cleft palate" EXACT [] synonym: "Teebi Al-Saleh Hassoon syndrome" EXACT [] xref: MESH:C537830 is_a: DOID:10629 ! microphthalmia is_a: DOID:674 ! cleft palate is_a: DOID:9002427 ! Fetal Macrosomia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000886 name: Roifman-Chitayat Syndrome alt_id: MIM:613328 def: "Thios disease is an autosomal recessive digenic disorder characterized by global developmental delay, variable neurologic features such as seizures, ataxia, and optic atrophy, dysmorphic facial features, distal skeletal anomalies, and combined immunodeficiency manifest as recurrent infections." [] synonym: "combined immunodeficiency, facial dysmorphism, optic nerve atrophy, skeletal anomalies, and developmental delay" EXACT [] synonym: "ROCHIS" EXACT [] synonym: "ROIFMAN-CHITAYAT SYNDROME, DIGENIC" EXACT [] xref: MESH:C567641 is_a: DOID:0080006 ! bone development disease is_a: DOID:1891 ! optic nerve disease is_a: DOID:225 ! syndrome is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9000887 name: Muscular Dystrophy, Animal def: "MUSCULAR DYSTROPHY that occurs in VERTEBRATE animals." [MESH:D009137] synonym: "Animal Muscular Dystrophies" EXACT [] xref: MESH:D009137 xref: RDO:0006157 is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9000888 name: Pregnancy in Diabetics def: "The state of PREGNANCY in women with DIABETES MELLITUS. This does not include either symptomatic diabetes or GLUCOSE INTOLERANCE induced by pregnancy (DIABETES, GESTATIONAL) which resolves at the end of pregnancy." [MESH:D011254] synonym: "Pregnancy in Diabete" EXACT [] synonym: "Pregnancy in Diabetes" EXACT [] synonym: "Pregnancy in Diabetic" EXACT [] xref: MESH:D011254 xref: RDO:0002156 is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9000889 name: Escherichia Coli Meningitis def: "A form of gram-negative meningitis that tends to occur in neonates, in association with anatomical abnormalities (which feature communication between the meninges and cutaneous structures) or as OPPORTUNISTIC INFECTIONS in association with IMMUNOLOGIC DEFICIENCY SYNDROMES. In premature neonates the clinical presentation may be limited to ANOREXIA; VOMITING; lethargy; or respiratory distress. Full-term infants may have as additional features FEVER; SEIZURES; and bulging of the anterior fontanelle. (From Menkes, Textbook of Child Neurology, 5th ed, pp398-400)" [MESH:D020814] synonym: "Escherichia coli Meningitides" EXACT [] xref: EFO:1000929 xref: MESH:D020814 is_a: DOID:9002953 ! Escherichia Coli Infections is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:9000890 name: Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones alt_id: MIM:157800 synonym: "CARDIOSPONDYLOCARPOFACIAL SYNDROME" EXACT [] synonym: "CSCF" EXACT [] xref: MESH:C563572 xref: NCI:C188216 is_a: DOID:11502 ! mitral valve insufficiency is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9000891 name: Hereditary Bilateral Parotidomegaly alt_id: MIM:168800 xref: MESH:C566821 is_a: DOID:630 ! genetic disease [Term] id: DOID:9000892 name: Fetal Distress def: "A nonreassuring fetal status (NRFS) indicating that the FETUS is compromised (American College of Obstetricians and Gynecologists 1988). It can be identified by sub-optimal values in FETAL HEART RATE; oxygenation of FETAL BLOOD; and other parameters." [MESH:D005316] synonym: "Nonreassuring Fetal Status" EXACT [] xref: MESH:D005316 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9000893 name: High-Frequency Deafness, Sensorineural, X-Linked xref: MESH:C564432 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9008455 ! High-Frequency Hearing Loss [Term] id: DOID:9000894 name: Benign Skin Neoplasms, Epithelial def: "A benign proliferation or tumor of epithelial origin in the skin." [] synonym: "Benign epithelial neoplasm of skin" EXACT [] synonym: "Benign tumor of surface epithelium" EXACT [] xref: RDO:9000114 is_a: DOID:3165 ! skin benign neoplasm [Term] id: DOID:9000895 name: Preterm Intraventricular Hemorrhage synonym: "GRADE 1 PRETERM INTRAVENTRICULAR HEMORRHAGE" NARROW [] synonym: "GRADE I PRETERM INTRAVENTRICULAR HEMORRHAGE" NARROW [] xref: ClinVar:VCV001077148.1 is_a: DOID:9000610 ! Obstetric Labor Complications is_a: DOID:9001585 ! Intraventricular Hemorrhage created_by: slaulede creation_date: 2019-07-09T11:27:14Z [Term] id: DOID:9000896 name: Larsen-Like Syndromes alt_id: MIM:608545 alt_id: RDO:0013043 synonym: "Larsen-Like Syndrome" EXACT [] synonym: "LRSL" EXACT [] xref: MESH:C563914 is_a: DOID:9001487 ! Facies is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9004353 ! Larsen Syndromes is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000897 name: LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME def: "A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development with language delay, and mild dysmorphic features." [MIM:618974] synonym: "LIGOWS" EXACT [] xref: MIM:618974 is_a: DOID:1059 ! intellectual disability is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders created_by: slaulede creation_date: 2020-12-14T17:26:44Z [Term] id: DOID:9000898 name: Alopecia-Mental Retardation Syndrome with Convulsions and Hypergonadotropic Hypogonadism alt_id: MIM:601217 xref: MESH:C563370 is_a: DOID:0080627 ! alopecia-mental retardation syndrome is_a: DOID:11832 ! visual epilepsy is_a: DOID:1924 ! hypogonadism [Term] id: DOID:9000899 name: Charcot-Marie-Tooth Disease Axonal Type 2II def: "An autosomal dominant neurologic disorder characterized by a slowly progressive sensorimotor peripheral neuropathy affecting mainly the lower limbs, resulting in distal muscle weakness and atrophy and subsequent walking difficulties. Caused by heterozygous mutation in the SLC12A6 gene on chromosome 15q13." [MIM:620068] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2II" EXACT [] synonym: "CMT2II" EXACT [] synonym: "SLC12A6-RELATED CONDITION" EXACT [] xref: MIM:620068 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 created_by: mtutaj creation_date: 2022-10-10T15:29:52Z [Term] id: DOID:9000900 name: Delusional Parasitosis def: "A delusional disorder of belief in infestation by insects or other parasites. This FORMICATION is typically accompanied by dermatological manifestation such as PRURITUS that may lead to self-mutilation in order to remove the perceived parasites. It can be either primary or secondary to a somatic or psychiatric condition." [MESH:D063726] synonym: "Delusional Parasitoses" EXACT [] synonym: "Delusory Parasitoses" EXACT [] synonym: "Delusory Parasitosis" EXACT [] synonym: "Dermatozoic Delusion" EXACT [] synonym: "Dermatozoic Delusions" EXACT [] synonym: "Ekbom Delusional Parasitoses" EXACT [] synonym: "Ekbom Delusional Parasitosis" EXACT [] synonym: "Ekbom Delusory Parasitoses" EXACT [] synonym: "Ekbom Delusory Parasitosis" EXACT [] synonym: "Ekbom Dermatozoic Delusion" EXACT [] synonym: "Ekbom Dermatozoic Delusions" EXACT [] synonym: "Ekbom Psychogenic Parasitoses" EXACT [] synonym: "Ekbom Psychogenic Parasitosis" EXACT [] synonym: "Psychogenic Parasitoses" EXACT [] synonym: "Psychogenic Parasitosis" EXACT [] xref: MESH:D063726 is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders [Term] id: DOID:9000901 name: Inert Gas Narcosis def: "Progressive mental disturbances and unconsciousness due to breathing mixtures of oxygen and inert gases (argon, helium, xenon, krypton, and atmospheric nitrogen) at high pressure." [MESH:D007222] synonym: "Depth Intoxication" EXACT [] synonym: "Depth Intoxications" EXACT [] synonym: "Inert Gas Narcoses" EXACT [] synonym: "Nitrogen Narcoses" EXACT [] synonym: "Nitrogen Narcosis" EXACT [] xref: MESH:D007222 is_a: DOID:9004169 ! Gas Poisoning is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:9000902 name: Surgical Blood Loss def: "Loss of blood during a surgical procedure." [MESH:D016063] synonym: "surgical blood losses" EXACT [] synonym: "Surgical Hemorrhage" EXACT [] synonym: "surgical hemorrhages" EXACT [] xref: MESH:D016063 is_a: DOID:9007171 ! Intraoperative Complications is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9000903 name: Methemoglobin Reductase Deficiency alt_id: MIM:250700 synonym: "NADPH-dependent methemoglobin reductase deficiency" EXACT [] synonym: "TPNH-methemoglobin reductase deficiency" EXACT [] xref: MESH:C563171 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9000904 name: Yemenite Deaf-Blind Hypopigmentation Syndrome alt_id: MIM:601706 synonym: "Warburg Thomsen syndrome" EXACT [] synonym: "Yemenite (Warburg) deaf-blind hypopigmentation syndrome" EXACT [] xref: MESH:C536771 xref: RDO:0002453 is_a: DOID:1432 ! blindness is_a: DOID:225 ! syndrome is_a: DOID:9005660 ! Hypopigmentation is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9000905 name: Tenorio Syndrome def: "A syndrome characterized by overgrowth, macrocephaly, and intellectual disability. (OMIM)" [] synonym: "OVERGROWTH, MACROCEPHALY, AND INTELLECTUAL DISABILITY SYNDROME" EXACT [] synonym: "RNF125-RELATED CONDITION" EXACT [] synonym: "TNORS" EXACT [] xref: MIM:616260 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9006084 ! Gigantism created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:9000906 name: Oropharyngeal Neoplasms alt_id: RDO:0006247 def: "Tumors or cancer of the OROPHARYNX." [MESH:D009959] synonym: "Oropharyngeal Neoplasm" EXACT [] synonym: "oropharynx neoplasm" EXACT [] synonym: "oropharynx neoplasms" EXACT [] xref: MESH:D009959 is_a: DOID:9002346 ! Pharyngeal Neoplasms [Term] id: DOID:9000908 name: Gastric Fistula def: "Abnormal passage communicating with the STOMACH." [MESH:D005747] synonym: "Stomach Fistula" EXACT [] xref: MESH:D005747 is_a: DOID:9008038 ! Digestive System Fistula [Term] id: DOID:9000910 name: Elliptocytosis, Atypical xref: MESH:C565598 is_a: DOID:2373 ! hereditary elliptocytosis [Term] id: DOID:9000911 name: Autosomal Dominant Intellectual Developmental Disorder 60 synonym: "Autosomal Dominant Mental Retardation 60" EXACT [] synonym: "autosomal dominant mental retardation 60 with seizures" EXACT [] synonym: "intellectual developmental disorder 60 with seizures" EXACT [] synonym: "MRD60" EXACT [] xref: EFO:0010566 xref: MIM:618587 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder is_a: DOID:1826 ! epilepsy created_by: mtutaj creation_date: 2019-09-18T09:02:08Z [Term] id: DOID:9000912 name: Acute Reversible Leukoencephalopathy with Increased Urinary Alpha-ketoglutarate def: "An autosomal recessive disorder characterized by acute reversible neurologic deterioration in the context of a febrile illness. The disorder is associated with transient leukoencephalopathy on brain imaging concurrent with the acute episode, as well as persistently increased excretion of dicarboxylic acids, particularly alpha-ketoglutarate." [MIM:618384] synonym: "ARLIAK" EXACT [] xref: EFO:0010262 xref: MIM:618384 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9002704 ! Leukoencephalopathies created_by: slaulede creation_date: 2019-09-13T13:31:43Z [Term] id: DOID:9000913 name: Chromosome 18 Ring xref: MESH:C538304 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9000914 name: Pachyonychia Congenita 3 synonym: "PC3" EXACT [] xref: MIM:615726 is_a: DOID:0050449 ! pachyonychia congenita created_by: mtutaj creation_date: 2019-03-26T00:00:00Z [Term] id: DOID:9000915 name: Angiofibroma def: "A benign neoplasm of fibrous tissue in which there are numerous small and large, frequently dilated, vascular channels. (Stedman, 25th ed)" [MESH:D018322] synonym: "Angiofibromas" EXACT [] synonym: "ANGIOFIBROMA, SOMATIC" NARROW [] synonym: "JUVENILE NASOPHARYNGEAL ANGIOFIBROMA" NARROW [] xref: EFO:1001761 xref: MESH:D018322 is_a: DOID:9006948 ! Vascular Tissue Neoplasms [Term] id: DOID:9000916 name: Peroxisome Biogenesis Disorder, Complementation Group D xref: MESH:C566388 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9000917 name: Amoebic Dysentery due to Entamoeba Histolytica xref: MESH:C539067 xref: RDO:0004603 is_a: DOID:9006038 ! Amebic Dysentery [Term] id: DOID:9000918 name: Disease Progression def: "The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis." [MESH:D018450] synonym: "Disease Exacerbation" EXACT [] synonym: "Disease Progressions" EXACT [] xref: MESH:D018450 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9000919 name: Tranebjaerg Svejgaard syndrome alt_id: RDO:0002715 synonym: "mental retardation X-linked, Tranebjaerg type seizures and psoriasis" EXACT [] synonym: "X-linked mental retardation associated with psoriasis" EXACT [] xref: MESH:C536978 is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:8893 ! psoriasis is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9000920 name: Anterior Cruciate Ligament Injuries def: "Sprain or tear injuries to the ANTERIOR CRUCIATE LIGAMENT of the knee." [MESH:D000070598] synonym: "ACL Injuries" EXACT [] synonym: "ACL Injury" EXACT [] synonym: "ACL Tear" EXACT [] synonym: "ACL Tears" EXACT [] synonym: "Anterior Cruciate Ligament Injury" EXACT [] synonym: "Anterior Cruciate Ligament Tear" EXACT [] synonym: "Anterior Cruciate Ligament Tears" EXACT [] xref: MESH:D000070598 xref: RDO:0016061 is_a: DOID:9008290 ! Knee Injuries [Term] id: DOID:9000921 name: Crush Syndrome def: "Severe systemic manifestation of trauma and ischemia involving soft tissues, principally skeletal muscle, due to prolonged severe crushing. It leads to increased permeability of the cell membrane and to the release of potassium, enzymes, and myoglobin from within cells. Ischemic renal dysfunction secondary to hypotension and diminished renal perfusion results in acute tubular necrosis and uremia." [MESH:D003444] synonym: "Crush Syndromes" EXACT [] xref: EFO:1001299 xref: MESH:D003444 xref: RDO:0005298 is_a: DOID:225 ! syndrome is_a: DOID:9000728 ! Traumatic Shock is_a: DOID:9001281 ! Crush Injuries [Term] id: DOID:9000922 name: Chromosome 5, Trisomy 5pter p13 3 synonym: "Duplication 5pter p13.3" EXACT [] synonym: "Trisomy 5pter p13 3" EXACT [] xref: MESH:C537649 xref: RDO:0003526 is_a: DOID:12580 ! Cri-du-Chat syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9000923 name: Joubert Syndrome 12 synonym: "JBTS12" EXACT [] xref: RDO:9000721 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:9250 ! acrocallosal syndrome [Term] id: DOID:9000924 name: Gastrointestinal Motility Disorders def: "Disorders affecting the motor function of any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." [] synonym: "ESOPHAGEAL AND COLONIC DYSMOTILITY" NARROW [] is_a: DOID:77 ! gastrointestinal system disease created_by: rgd creation_date: 2017-09-14T00:00:00Z [Term] id: DOID:9000925 name: McPherson Robertson Cammarano Syndrome synonym: "Dominantly inherited ptosis, strabismus and ectopic pupils" EXACT [] xref: MESH:C538161 xref: RDO:0004101 is_a: DOID:0060260 ! ptosis is_a: DOID:225 ! syndrome is_a: DOID:238 ! pupil disease is_a: DOID:540 ! strabismus [Term] id: DOID:9000926 name: Visceroatrial Heterotaxy, Autosomal Recessive xref: MESH:C566864 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:9000927 name: Alveolar Bone Loss def: "Resorption or wasting of the tooth-supporting bone (ALVEOLAR PROCESS) in the MAXILLA or MANDIBLE." [MESH:D016301] synonym: "Alveolar Bone Atrophies" EXACT [] synonym: "Alveolar Bone Atrophy" EXACT [] synonym: "Alveolar Bone Losses" EXACT [] synonym: "Alveolar Process Atrophies" EXACT [] synonym: "Alveolar Process Atrophy" EXACT [] synonym: "Alveolar Resorption" EXACT [] synonym: "Alveolar Resorptions" EXACT [] synonym: "Periodontal Bone Loss" EXACT [] synonym: "Periodontal Bone Losses" EXACT [] synonym: "Periodontal Resorption" EXACT [] synonym: "Periodontal Resorptions" EXACT [] xref: MESH:D016301 xref: RDO:0006950 is_a: DOID:0080011 ! bone resorption disease is_a: DOID:9005858 ! Periodontal Atrophy [Term] id: DOID:9000928 name: Central Nervous System Helminthiasis alt_id: RDO:0007306 def: "Infections of the BRAIN; SPINAL CORD; or MENINGES caused by HELMINTHS (parasitic worms)." [MESH:D020809] synonym: "Cerebral Helminthiasis" EXACT [] xref: EFO:1001773 xref: MESH:D020809 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9004805 ! Central Nervous System Parasitic Infections [Term] id: DOID:9000929 name: Hallux Rigidus def: "A condition caused by degenerative arthritis (see OSTEOARTHRITIS) of the METATARSOPHALANGEAL JOINT of the great toe and characterized by pain and limited dorsiflexion, but relatively unrestricted plantar flexion." [MESH:D020859] xref: MESH:D020859 is_a: DOID:381 ! arthropathy is_a: DOID:9000083 ! Foot Deformities, Acquired [Term] id: DOID:9000930 name: Dental Pulp Exposure def: "The result of pathological changes in the hard tissue of a tooth caused by carious lesions, mechanical factors, or trauma, which render the pulp susceptible to bacterial invasion from the external environment." [MESH:D003789] xref: EFO:1001782 xref: MESH:D003789 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:9000931 name: Ophthalmoplegic Migraine alt_id: RDO:0010040 def: "Childhood-onset of recurrent headaches with an oculomotor cranial nerve palsy. Typically, ABDUCENS NERVE; OCULOMOTOR NERVE; and TROCHLEAR NERVE are involved with DIPLOPIA and BLEPHAROPTOSIS." [MESH:D060486] synonym: "Ophthalmoplegic Migraines" EXACT [] synonym: "Ophthalmoplegic Migraine Syndrome" EXACT [] synonym: "Ophthalmoplegic Migraine Syndromes" EXACT [] xref: MESH:D060486 is_a: DOID:3213 ! demyelinating disease is_a: DOID:539 ! ophthalmoplegia is_a: DOID:5656 ! cranial nerve disease is_a: DOID:6364 ! migraine [Term] id: DOID:9000932 name: African Horse Sickness def: "An insect-borne reovirus infection of horses, mules and donkeys in Africa and the Middle East; characterized by pulmonary edema, cardiac involvement, and edema of the head and neck." [MESH:D000355] synonym: "African Horsesickness" EXACT [] synonym: "African Horse Sicknesses" EXACT [] synonym: "African Horsesicknesses" EXACT [] synonym: "Equine Plague" EXACT [] synonym: "Equine Plagues" EXACT [] xref: MESH:D000355 xref: RDO:0004769 is_a: DOID:9001187 ! Horse Diseases is_a: DOID:9006487 ! Reoviridae Infections is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:9000933 name: Leukemoid Reaction def: "A peripheral blood picture resembling that of leukemia or indistinguishable from it on the basis of morphologic appearance alone. (Dorland, 27th ed)" [MESH:D007955] synonym: "Leukemoid Reactions" EXACT [] xref: EFO:1001014 xref: MESH:D007955 is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:9001039 ! Leukocytosis [Term] id: DOID:9000934 name: Sprains and Strains def: "A collective term for muscle and ligament injuries without dislocation or fracture. A sprain is a joint injury in which some of the fibers of a supporting ligament are ruptured but the continuity of the ligament remains intact. A strain is an overstretching or overexertion of some part of the musculature." [MESH:D013180] synonym: "Sprain" EXACT [] synonym: "sprains" EXACT [] synonym: "Strain" EXACT [] synonym: "strains" EXACT [] xref: EFO:0005135 xref: EFO:0009582 xref: MESH:D013180 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9000936 name: Dysbetalipoproteinemia due to Defect in Apolipoprotein E-d alt_id: RDO:0014663 synonym: "DYSBETALIPOPROTEINEMIA DUE TO APOE2" NARROW [] xref: MESH:C566261 is_a: DOID:9003370 ! Dyslipidemias [Term] id: DOID:9000937 name: breast hyperplasia def: "This refers to hyperplastic proliferations of the epithelial cells in the breast parenchyma." [EFO:0008492] synonym: "mammary hyperplasia" EXACT [] xref: EFO:0008492 is_a: DOID:0060082 ! breast benign neoplasm created_by: slaulede creation_date: 2022-10-27T10:55:33Z [Term] id: DOID:9000938 name: Sudden Infant Death with Dysgenesis of the Testes Syndrome alt_id: MIM:608800 synonym: "SIDDT" EXACT [] xref: MESH:C563856 is_a: DOID:9007 ! sudden infant death syndrome [Term] id: DOID:9000939 name: Split Hand, Split Foot, Nystagmus alt_id: MIM:183800 synonym: "Karsch-Neugebauer syndrome" EXACT [] synonym: "Nystagmus-Split Hand Syndrome" EXACT [] synonym: "Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts" EXACT [] xref: MESH:C537319 is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:9000940 name: Thrombocytosis, Benign Familial Microcytic xref: MESH:C566596 xref: RDO:0014909 is_a: DOID:2228 ! thrombocytosis [Term] id: DOID:9000941 name: Elliptocytosis 2 alt_id: MIM:130600 synonym: "EL2" EXACT [] synonym: "Elliptocytosis, Rhesus-Unlinked Type" EXACT [] xref: MESH:C565058 is_a: DOID:2373 ! hereditary elliptocytosis [Term] id: DOID:9000942 name: Actinic Prurigo alt_id: MIM:174770 synonym: "Polymorphic Light Eruption, Hereditary" EXACT [] xref: MESH:C566780 is_a: DOID:3159 ! photosensitivity disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9000943 name: Lethal Congenital Contracture Syndrome 11 alt_id: RDO:9001625 synonym: "GLDN-RELATED CONDITION" EXACT [] synonym: "LCCS11" EXACT [] synonym: "lethal congenital contracture arthrogryposis-11" EXACT [] xref: MIM:617194 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:9000944 name: Primary Congenital Glaucoma 3, C synonym: "GLC3C" EXACT [] xref: MIM:613085 is_a: DOID:0050593 ! primary congenital glaucoma [Term] id: DOID:9000945 name: Ventilator-Induced Lung Injury def: "Lung damage that is caused by the adverse effects of PULMONARY VENTILATOR usage. The high frequency and tidal volumes produced by a mechanical ventilator can cause alveolar disruption and PULMONARY EDEMA." [MESH:D055397] synonym: "Ventilator-Induced Lung Injuries" EXACT [] xref: MESH:D055397 xref: RDO:0005074 is_a: DOID:9000310 ! Lung Injury [Term] id: DOID:9000946 name: Schilbach-Rott Syndrome synonym: "blepharofacioskeletal syndrome" EXACT [] synonym: "cleft palate, hypotelorism, and hypospadias" EXACT [] synonym: "ocular hypotelorism, submucosal cleft palate, and hypospadias" EXACT [] synonym: "SBRS" EXACT [] xref: MESH:C563509 xref: MIM:164220 xref: MONDO:0008113 is_a: DOID:10892 ! hypospadias is_a: DOID:674 ! cleft palate is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9000947 name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, WITH PANHYPOPITUITARISM alt_id: MIM:300123 synonym: "INTELLECTUAL DISABILITY, X-LINKED, WITH PANHYPOPITUITARISM" EXACT [] synonym: "MRGH" NARROW [] synonym: "X-linked intellectual developmental disorder with isolated growth hormone deficiency" EXACT [] synonym: "X-LINKED INTELLECTUAL DISABILITY WITH ISOLATED GROWTH HORMONE DEFICIENCY" EXACT [] synonym: "X-linked mental retardation with isolated growth hormone deficiency" EXACT [] synonym: "X-Linked Mental Retardation with Panhypopituitarism" EXACT [] xref: MESH:C567485 is_a: DOID:0111779 ! X-linked panhypopituitarism is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9000948 name: central nervous system toxicity def: "This disease state involves injury to the central nervous system or damage to its function. The damage can include stroke, multiple sclerosis, encephalopathy, dementia, Alzheimer's disease, dyskinesia, tremor, convulsions and Parkinson's disease." [EFO:0011047] synonym: "CNS toxicity" EXACT [] xref: EFO:0011047 is_a: DOID:9007553 ! neurotoxicity created_by: slaulede creation_date: 2022-12-12T15:52:52Z [Term] id: DOID:9000949 name: DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES def: "A disorder characterized by global developmental delay apparent from infancy, intellectual disability or learning difficulties, behavioral abnormalities, dysmorphic features, and obesity." [MIM:617991] synonym: "DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHISM" EXACT [] synonym: "DIDOD" EXACT [] synonym: "PHIP-RELATED CONDITION" EXACT [] synonym: "PHIP-RELATED DISORDER" EXACT [] xref: MIM:617991 is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9970 ! obesity created_by: slaulede creation_date: 2018-06-18T16:29:29Z [Term] id: DOID:9000950 name: Polymicrogyria with or without Vascular-Type Ehlers-Danlos Syndrome def: "An autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures." [MIM:618343] synonym: "COL3A1-RELATED CONDITION" BROAD [] synonym: "PMGEDSV" EXACT [] synonym: "Polymicrogyria with or without vascular-type EDS" EXACT [] synonym: "POLYMICROGYRIA WITHOUT VASCULAR-TYPE EHLERS-DANLOS SYNDROME" NARROW [] xref: MIM:618343 is_a: DOID:0080918 ! polymicrogyria is_a: DOID:14756 ! vascular type Ehlers-Danlos syndrome created_by: mtutaj creation_date: 2019-03-06T08:08:14Z [Term] id: DOID:9000951 name: Retinal Arterial Macroaneurysm with Supravalvular Pulmonic Stenosis synonym: "RAMSVPS" EXACT [] synonym: "retinal arterial macroaneurysm with supravascular pulmonic stenosis" RELATED [] xref: MIM:614224 is_a: DOID:6420 ! pulmonary valve stenosis is_a: DOID:9002280 ! Retinal Arterial Macroaneurysm [Term] id: DOID:9000954 name: Parakeratosis alt_id: OMIA:001373 def: "Persistence of the nuclei of the keratinocytes into the stratum corneum of the skin. This is a normal state only in the epithelium of true mucous membranes in the mouth and vagina. (Dorland, 27th ed)" [MESH:D010241] synonym: "Nasal parakeratosis" NARROW [] synonym: "Parakeratoses" EXACT [] xref: MESH:D010241 is_a: DOID:161 ! keratosis [Term] id: DOID:9000955 name: Acute Otitis Media def: "Acute inflammation of the MIDDLE EAR including the AUDITORY OSSICLES and the EUSTACHIAN TUBE." [] xref: RDO:9000526 is_a: DOID:10754 ! otitis media [Term] id: DOID:9000956 name: Hyperlipoproteinemia Type II, and Deafness alt_id: MIM:144300 xref: MESH:C564170 is_a: DOID:9005519 ! Hyperlipoproteinemia Type II is_a: DOID:9008681 ! Deafness [Term] id: DOID:9000957 name: lymphatic malformation 6 def: "A form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. (OMIM)" [] synonym: "DIFFUSE LYMPHATIC MALFORMATION" EXACT [] synonym: "GENERALIZED LYMPHATIC DYSPLASIA OF FOTIOU" EXACT [] synonym: "Hereditary Lymphedema III" EXACT [] synonym: "LMPH3" EXACT [] synonym: "LMPHM6" EXACT [] synonym: "PIEZO1-RELATED CONDITION" BROAD [] xref: EFO:0009153 xref: MIM:616843 is_a: DOID:0050580 ! hereditary lymphedema [Term] id: DOID:9000958 name: Popliteal Cyst alt_id: MIM:175750 def: "A SYNOVIAL CYST located in the back of the knee, in the popliteal space arising from the semimembranous bursa or the knee joint." [MESH:D011151] synonym: "Baker's Cyst" EXACT [] synonym: "Baker Cyst" EXACT [] synonym: "Baker cysts" EXACT [] synonym: "popliteal cysts" EXACT [] xref: MESH:D011151 is_a: DOID:9001669 ! Synovial Cyst [Term] id: DOID:9000960 name: Tubal Pregnancy def: "The most common (>96%) type of ectopic pregnancy in which the extrauterine EMBRYO IMPLANTATION occurs in the FALLOPIAN TUBE, usually in the ampullary region where FERTILIZATION takes place." [MESH:D011274] synonym: "Tubal Pregnancies" EXACT [] xref: MESH:D011274 is_a: DOID:0060329 ! ectopic pregnancy [Term] id: DOID:9000961 name: Pseudoachondroplastic Dysplasia 2 synonym: "Recessive pseudoachondroplasia" EXACT [] synonym: "Spondyloepiphyseal dysplasia pseudoachondroplastic 2" EXACT [] xref: MESH:C535820 xref: RDO:0001138 is_a: DOID:4480 ! achondroplasia [Term] id: DOID:9000962 name: Snoring def: "Rough, noisy breathing during sleep, due to vibration of the uvula and soft palate." [MESH:D012913] synonym: "Snorings" EXACT [] xref: MESH:D012913 is_a: DOID:9003157 ! Respiratory Sounds [Term] id: DOID:9000963 name: Hereditary Epistaxis alt_id: MIM:132500 xref: MESH:C562751 is_a: DOID:630 ! genetic disease is_a: DOID:9008421 ! Epistaxis [Term] id: DOID:9000964 name: Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin alt_id: MIM:601039 xref: MESH:C563402 is_a: DOID:1059 ! intellectual disability is_a: DOID:1697 ! ichthyosis is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9000965 name: Neoplasm Metastasis def: "The transfer of a neoplasm from one organ or part of the body to another remote from the primary site." [MESH:D009362] synonym: "Metastases" EXACT [] synonym: "Metastasis" EXACT [] synonym: "Neoplasm Metastases" EXACT [] xref: EFO:0009708 xref: EFO:0009709 xref: EFO:0010941 xref: MESH:D009362 is_a: DOID:9008192 ! Neoplastic Processes [Term] id: DOID:9000966 name: Night Terrors def: "A disorder characterized by incomplete arousals from sleep associated with behavior suggesting extreme fright. This condition primarily affects children and young adults and the individual generally has no recall of the event. Episodes tend to occur during stage III or IV. SOMNAMBULISM is frequently associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p391)" [MESH:D020184] synonym: "Adult Night Terror" EXACT [] synonym: "Adult Night Terrors" EXACT [] synonym: "Adult Pavor Nocturnus" EXACT [] synonym: "Childhood Night Terror" EXACT [] synonym: "Childhood Night Terrors" EXACT [] synonym: "Childhood Pavor Nocturnus" EXACT [] synonym: "Pavor Nocturnus" EXACT [] synonym: "Primary Night Terror" EXACT [] synonym: "Primary Night Terrors" EXACT [] synonym: "Secondary Night Terror" EXACT [] synonym: "Secondary Night Terrors" EXACT [] synonym: "Sleep Terror" EXACT [] synonym: "Sleep Terror Disorder" EXACT [] synonym: "Sleep Terrors" EXACT [] xref: MESH:D020184 xref: RDO:0007330 is_a: DOID:9007411 ! Sleep Arousal Disorders [Term] id: DOID:9000967 name: Scaphocephaly, Maxillary Retrusion, and Impaired Intellectual Development alt_id: MIM:609579 synonym: "Scaphocephaly, Maxillary Retrusion, and Mental Retardation" EXACT [] xref: MESH:C566511 is_a: DOID:1059 ! intellectual disability is_a: DOID:2340 ! craniosynostosis is_a: DOID:9001031 ! Retrognathia [Term] id: DOID:9000968 name: Familial Thymoma alt_id: MIM:274230 synonym: "Thymic Neoplasia" EXACT [] xref: MESH:C564767 is_a: DOID:3275 ! thymoma [Term] id: DOID:9000970 name: Focal Nodular Hyperplasia def: "Solitary or multiple benign hepatic vascular tumors, usually occurring in women of 20-50 years of age. The nodule, poorly encapsulated, consists of a central stellate fibrous scar and normal liver elements such as HEPATOCYTES, small BILE DUCTS, and KUPFFER CELLS among the intervening fibrous septa. The pale colored central scar represents large blood vessels with hyperplastic fibromuscular layer and narrowing lumen." [MESH:D020518] synonym: "Focal Nodular Hyperplasias" EXACT [] xref: MESH:D020518 xref: RDO:0007416 is_a: DOID:409 ! liver disease [Term] id: DOID:9000971 name: Ichthyosis Hystrix is_a: DOID:1697 ! ichthyosis created_by: mtutaj creation_date: 2023-07-28T09:57:49Z [Term] id: DOID:9000972 name: Fever def: "An abnormal elevation of body temperature, usually as a result of a pathologic process." [MESH:D005334] synonym: "EPISODIC FEVER" NARROW [] synonym: "Fevers" EXACT [] synonym: "Hyperthermia" EXACT [] synonym: "Hyperthermias" EXACT [] synonym: "Pyrexia" EXACT [] synonym: "Pyrexias" EXACT [] xref: MESH:D005334 is_a: DOID:9008809 ! Body Temperature Changes [Term] id: DOID:9000973 name: Maternally Inherited Leigh Syndrome synonym: "Leigh disease, maternally inherited" EXACT [] synonym: "Subacute necrotizing encephalomyelopathy maternally inherited" EXACT [] xref: MESH:C536035 xref: RDO:0001449 is_a: DOID:225 ! syndrome is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9000974 name: Acute Generalized Exanthematous Pustulosis def: "Rare skin eruption characterized by acute formation of pustules filled with NEUTROPHILS, fever, and peripheral blood LEUKOCYTOSIS. Most cases are associated with the use of antibiotics (e.g., BETA-LACTAMS)." [MESH:D056150] synonym: "Acute Localized Exanthematous Pustulosis" EXACT [] xref: MESH:D056150 xref: RDO:0007737 is_a: DOID:9005236 ! Drug Eruptions [Term] id: DOID:9000975 name: Spondyloepimetaphyseal Dysplasia, Krakow Type synonym: "IMMUNOOSSEOUS DYSPLASIA, KRAKOW TYPE" EXACT [] synonym: "SEMDK" EXACT [] xref: MIM:618162 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia created_by: mtutaj creation_date: 2019-02-08T15:23:43Z [Term] id: DOID:9000976 name: Trichoscyphodysplasia alt_id: RDO:0002175 synonym: "Cupped metaphyses and cone-shaped epiphyses with alopecia" EXACT [] synonym: "metaphyseal chondrodysplasia with cone-shaped epiphyses and alopecia" EXACT [] synonym: "metaphyseal chondrodysplasia with ectodermal dysplasia" EXACT [] xref: MESH:C536557 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9000977 name: Halitosis def: "An offensive, foul breath odor resulting from a variety of causes such as poor oral hygiene, dental or oral infections, or the ingestion of certain foods." [MESH:D006209] synonym: "Halitoses" EXACT [] xref: MESH:D006209 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9000979 name: 49,XXXXX Syndrome synonym: "Chromosome X pentasomy" EXACT [] synonym: "Chromosome XXXXX syndrome" EXACT [] synonym: "Pentasomy X" EXACT [] synonym: "Pentasomy X syndrome" EXACT [] synonym: "Penta-X syndrome" EXACT [] xref: MESH:C535319 xref: NCI:C89802 is_a: DOID:225 ! syndrome is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9004151 ! Sex Chromosome Disorders is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9000980 name: Martsolf Syndrome 2 def: "An autosomal recessive disorder with the main features of congenital cataracts, mildly to severely impaired intellectual development, and facial dysmorphism. Caused by homozygous mutation in the gene encoding the catalytic subunit of RAB3 GTPase-activating protein (RAB3GAP1) on chromosome 2q21. (OMIM)" [] synonym: "MARTS2" EXACT [] synonym: "RAB3GAP1-RELATED CONDITION" BROAD [] synonym: "RAB3GAP1-RELATED DISORDER" BROAD [] xref: MIM:619420 is_a: DOID:9001487 ! Facies is_a: DOID:9006949 ! Martsolf Syndrome created_by: mtutaj creation_date: 2021-07-08T15:08:14Z [Term] id: DOID:9000981 name: Autosomal Dominant Dyskeratosis Congenita xref: MESH:C565079 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:9000982 name: Pyruvate Dehydrogenase E1 Alpha Deficiency synonym: "Lactic Acidemia, Thiamine Responsive" EXACT [] synonym: "pyruvate decarboxylase" EXACT [] xref: MESH:C564071 is_a: DOID:3649 ! pyruvate decarboxylase deficiency is_a: DOID:3650 ! lactic acidosis [Term] id: DOID:9000983 name: Encephalocele def: "Brain tissue herniation through a congenital or acquired defect in the skull. The majority of congenital encephaloceles occur in the occipital or frontal regions. Clinical features include a protuberant mass that may be pulsatile. The quantity and location of protruding neural tissue determines the type and degree of neurologic deficit. Visual defects, psychomotor developmental delay, and persistent motor deficits frequently occur." [MESH:D004677] synonym: "Acquired Encephalocele" EXACT [] synonym: "Acquired Encephaloceles" EXACT [] synonym: "Bifid Cranium" EXACT [] synonym: "Bifid Craniums" EXACT [] synonym: "Cephalocele" EXACT [] synonym: "Cephaloceles" EXACT [] synonym: "Cerebellar Hernia" EXACT [] synonym: "Cerebellar Hernias" EXACT [] synonym: "Cerebellar Herniation" EXACT [] synonym: "Cerebellar Herniations" EXACT [] synonym: "Cerebral Hernia" EXACT [] synonym: "Cerebral Hernias" EXACT [] synonym: "Cranial Meningoencephalocele" EXACT [] synonym: "Cranial Meningoencephaloceles" EXACT [] synonym: "Craniocele" EXACT [] synonym: "Cranioceles" EXACT [] synonym: "Cranium Bifidum" EXACT [] synonym: "Cranium Bifidums" EXACT [] synonym: "Encephaloceles" EXACT [] synonym: "Frontal Encephalocele" EXACT [] synonym: "Frontal Encephaloceles" EXACT [] synonym: "Notoencephalocele" EXACT [] synonym: "Notoencephaloceles" EXACT [] synonym: "Occipital Encephalocele" EXACT [] synonym: "Occipital Encephaloceles" EXACT [] synonym: "Sincipital Encephalocele" EXACT [] synonym: "Sincipital Encephaloceles" EXACT [] synonym: "Tonsillar Hernia" EXACT [] synonym: "Tonsillar Hernias" EXACT [] synonym: "Tonsillar Herniation" EXACT [] synonym: "Tonsillar Herniations" EXACT [] xref: MESH:D004677 is_a: DOID:0080074 ! neural tube defect is_a: DOID:1283 ! enterocele [Term] id: DOID:9000984 name: Ventricular Flutter def: "A potentially lethal cardiac arrhythmia characterized by an extremely rapid, hemodynamically unstable ventricular tachycardia (150-300 beats/min) with a large oscillating sine-wave appearance. If untreated, ventricular flutter typically progresses to VENTRICULAR FIBRILLATION." [MESH:D054141] synonym: "Ventricular Flutters" EXACT [] xref: MESH:D054141 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9000986 name: Selective Tooth Agenesis, X-Linked, 1 alt_id: MIM:313500 alt_id: RDO:0015238 synonym: "Hypodontia-Oligodontia, X-Linked, 1" EXACT [] synonym: "STHAGX1" EXACT [] xref: MESH:C567060 is_a: DOID:0050591 ! tooth agenesis is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:9000987 name: Cerebroretinal Microangiopathy with Calcifications and Cysts 3 def: "An autosomal recessive disorder characterized by intrauterine growth retardation, retinal exudates, intracranial calcifications, and leukoencephalopathy. Caused by homozygous mutation in the POT1 gene on chromosome 7q31." [MIM:620368] synonym: "CRMCC3" EXACT [] xref: MIM:620368 is_a: DOID:9003025 ! Cerebroretinal Microangiopathy with Calcifications and Cysts created_by: mtutaj creation_date: 2023-05-12T09:17:05Z [Term] id: DOID:9000988 name: Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 2 def: "An autosomal recessive multisystemic disorder characterized by cholestatic hepatitis, poor feeding associated with poor overall growth, and hypoglycemia apparent from infancy. Caused by homozygous or compound heterozygous mutation in the YARS1 gene on chromosome 1p35. (OMIM)" [] synonym: "IMNEPD2" EXACT [] xref: MIM:619418 is_a: DOID:9006461 ! Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease created_by: mtutaj creation_date: 2021-07-09T10:59:29Z [Term] id: DOID:9000989 name: Pneumococcal Infections def: "Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE." [MESH:D011008] synonym: "Pneumococcal Infection" EXACT [] synonym: "Streptococcus pneumoniae Infection" EXACT [] synonym: "Streptococcus pneumoniae Infections" EXACT [] xref: EFO:0000772 xref: MESH:D011008 is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:9000990 name: Experimental Nervous System Autoimmune Disease def: "Experimental animal models for human AUTOIMMUNE DISEASES OF THE NERVOUS SYSTEM. They include GUILLAIN-BARRE SYNDROME (see NEURITIS, AUTOIMMUNE, EXPERIMENTAL); MYASTHENIA GRAVIS (see MYASTHENIA GRAVIS, AUTOIMMUNE, EXPERIMENTAL); and MULTIPLE SCLEROSIS (see ENCEPHALOMYELITIS, AUTOIMMUNE, EXPERIMENTAL)." [MESH:D020721] synonym: "Autoimmune Experimental Myositis" EXACT [] synonym: "Nervous System Autoimmune Disease Models" EXACT [] xref: MESH:D020721 is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9000991 name: SULEIMAN-EL-HATTAB SYNDROME def: "This is an autosomal recessive multisystem developmental disorder characterized by hypotonia and feeding difficulties soon after birth, global developmental delay with impaired intellectual development and poor expressive speech, and a general happy demeanor. There is a distinctive facial appearance with microcephaly, thick arched eyebrows with synophrys, hypertelorism, epicanthal folds, low-set ears, broad nasal bridge, and thin upper lip." [MIM:618950] synonym: "SULEHS" EXACT [] xref: MIM:618950 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2020-11-13T10:48:28Z [Term] id: DOID:9000992 name: necrotizing soft tissue infection def: "A bacterial infection of any layer within the soft tissue compartments associated with necrosis. The condition is often accompanied by septic shock, and the extensive inflammatory response is thought to be a primary cause of mortality." [PMID:26880104] synonym: "NSTI" EXACT [] xref: PMID:26880104 is_a: DOID:9004165 ! Soft Tissue Infections created_by: slaulede creation_date: 2020-08-18T17:29:45Z [Term] id: DOID:9000994 name: Choroid Neoplasms def: "Tumors of the choroid; most common intraocular tumors are malignant melanomas of the choroid. These usually occur after puberty and increase in incidence with advancing age. Most malignant melanomas of the uveal tract develop from benign melanomas (nevi)." [] synonym: "choroidal neoplasm" EXACT [] synonym: "choroidal neoplasms" EXACT [] synonym: "choroidal tumor" EXACT [] synonym: "choroid neoplasm" EXACT [] synonym: "neoplasm of choroid" EXACT [] xref: MESH:D002830 is_a: DOID:1417 ! choroid disease is_a: DOID:9007031 ! Uveal Neoplasms [Term] id: DOID:9000995 name: Undritz Anomaly alt_id: MIM:191500 synonym: "Hypersegmentation of Nuclei of Polymorphonuclear Leukocytes" EXACT [] xref: MESH:C566014 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9000996 name: Chest Trauma def: "An injury of the chest due to physical damage caused by an extrinsic agent." [] synonym: "Blunt injury to chest" RELATED [] synonym: "Blunt injury to thorax" RELATED [] synonym: "Traumatic injury to chest" EXACT [] is_a: DOID:9001954 ! Thoracic Injuries [Term] id: DOID:9000997 name: Tsukahara Syndrome alt_id: MIM:603438 synonym: "Radioulnar Synostosis with Microcephaly, Short Stature, Scoliosis, and Mental Retardation" EXACT [] xref: MESH:C566376 is_a: DOID:0060249 ! scoliosis is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9000998 name: Brain Injuries def: "Acute and chronic (see also BRAIN INJURIES, CHRONIC) injuries to the brain, including the cerebral hemispheres, CEREBELLUM, and BRAIN STEM. Clinical manifestations depend on the nature of injury. Diffuse trauma to the brain is frequently associated with DIFFUSE AXONAL INJURY or COMA, POST-TRAUMATIC. Localized injuries may be associated with NEUROBEHAVIORAL MANIFESTATIONS; HEMIPARESIS, or other focal neurologic deficits." [MESH:D001930] synonym: "Acute Brain Injuries" EXACT [] synonym: "Acute Brain Injury" EXACT [] synonym: "Brain Injury" EXACT [] synonym: "Brain Laceration" EXACT [] synonym: "Brain Lacerations" EXACT [] synonym: "Focal Brain Injuries" EXACT [] synonym: "Focal Brain Injury" EXACT [] xref: MESH:D001930 is_a: DOID:9007621 ! Craniocerebral Trauma is_a: DOID:936 ! brain disease [Term] id: DOID:9000999 name: Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 2 def: "A severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy." [MIM:616801] synonym: "HYPOTONIA-SPEECH IMPAIRMENT-SEVERE COGNITIVE DELAY SYNDROME" EXACT [] synonym: "IHPRF2" EXACT [] synonym: "UNC80-RELATED CONDITION" EXACT [] synonym: "UNC80-RELATED DISORDER" EXACT [] xref: MIM:616801 is_a: DOID:9006603 ! Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies [Term] id: DOID:9001000 name: Panniculitis, Lupus Erythematosus def: "A type of lupus erythematosus characterized by deep dermal or subcutaneous nodules, most often on the head, face, or upper arms. It is generally chronic and occurs most often in women between the ages of 20 and 45." [MESH:D015435] synonym: "Lupus Erythematosus Panniculitides" EXACT [] synonym: "Lupus Erythematosus Profundus" EXACT [] synonym: "Lupus Panniculitides" EXACT [] synonym: "Lupus Panniculitis" EXACT [] synonym: "Lupus Profundus" EXACT [] xref: MESH:D015435 xref: RDO:0006869 is_a: DOID:1526 ! panniculitis is_a: DOID:9006779 ! Discoid Lupus Erythematosus [Term] id: DOID:9001001 name: Davis Lafer Syndrome synonym: "Mental retardation unusual facies Davis Lafer type" EXACT [] xref: MESH:C535989 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies [Term] id: DOID:9001002 name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES alt_id: MIM:618659 def: "A global neurodevelopmental disorder with highly variable features. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet." [MIM:618659] synonym: "NEDDFSA" EXACT [] synonym: "ZMIZ1-RELATED CONDITION" EXACT [] xref: EFO:0010659 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006294 ! Congenital Limb Deformities created_by: slaulede creation_date: 2020-01-14T16:17:48Z [Term] id: DOID:9001003 name: Distal Renal Tubular Acidosis, with Normal Red Cell Morphology xref: MESH:C566911 is_a: DOID:9007406 ! Distal Renal Tubular Acidosis [Term] id: DOID:9001004 name: Chronic Periodontitis alt_id: MIM:260950 def: "Chronic inflammation and loss of PERIODONTIUM that is associated with the amount of DENTAL PLAQUE or DENTAL CALCULUS present. Chronic periodontitis occurs mostly in adults and was called adult periodontitis, but this disease can appear in young people." [MESH:D055113] synonym: "adult periodontitides" EXACT [] synonym: "adult periodontitis" EXACT [] synonym: "chronic periodontitides" EXACT [] xref: EFO:0006343 xref: MESH:D055113 is_a: DOID:824 ! periodontitis [Term] id: DOID:9001005 name: Complex Cortical Dysplasia with Other Brain Malformations 9 def: "A severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum." [MIM:618174] synonym: "CDCBM9" EXACT [] synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9" EXACT [] xref: MIM:618174 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: slaulede creation_date: 2019-01-11T17:59:21Z [Term] id: DOID:9001006 name: Necrotizing Pneumonia def: "Severe complication of pneumonia characterized by liquefaction of lung tissue." [MESH:D000071067] synonym: "Necrotizing Pneumonias" EXACT [] xref: MESH:D000071067 is_a: DOID:552 ! pneumonia [Term] id: DOID:9001007 name: X-Linked Macular Dystrophy alt_id: MIM:309100 xref: MESH:C564110 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:4448 ! macular degeneration is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9001008 name: Diverticulum def: "A pouch or sac developed from a tubular or saccular organ, such as the GASTROINTESTINAL TRACT." [MESH:D004240] synonym: "Diverticula" EXACT [] synonym: "Diverticulosis" EXACT [] xref: MESH:D004240 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9001009 name: Adult Pancreatic Cancer xref: MESH:C535836 is_a: DOID:1793 ! pancreatic cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:9001010 name: eye adnexa disease def: "This encompasses disorders of the eyelids, tear drainage and orbital tissues." [https://www.mrverity.com/adnexal-disorders/what-is-adnexal-disease/] synonym: "disorder of ocular adnexa" EXACT [] synonym: "eye adnexa disorder" EXACT [] synonym: "ocular adnexa disease" EXACT [] xref: EFO:0009546 is_a: DOID:5614 ! eye disease created_by: slaulede creation_date: 2022-10-25T16:14:33Z [Term] id: DOID:9001011 name: Bovine Tuberculosis def: "An infection of cattle caused by MYCOBACTERIUM BOVIS. It is transmissible to man and other animals." [MESH:D014380] synonym: "Bovine Tuberculoses" EXACT [] xref: EFO:1001441 xref: MESH:D014380 is_a: DOID:399 ! tuberculosis is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:9001012 name: Therapy-Related Myeloid Neoplasm def: "This term covers acute myeloid leukemias, myelodysplastic syndromes, and myelodysplastic/myeloproliferative neoplasms arising as a result of the mutagenic effect of chemotherapy agents and/or radiation that are used for the treatment of neoplastic or non-neoplastic disorders." [NCI:C27912] synonym: "acute myeloid Leukaemias and myelodysplastic syndromes, therapy-related" EXACT [] synonym: "therapy-related acute myeloid leukemia and myelodysplastic syndrome" EXACT [] synonym: "therapy-related AML and MDS" EXACT [] xref: EFO:1000575 xref: NCI:C27912 is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:0070004 ! myeloid neoplasm created_by: slaulede creation_date: 2022-09-29T15:21:42Z [Term] id: DOID:9001013 name: Diurnal Enuresis def: "Involuntary discharge of URINE during the daytime while one is awake." [MESH:D053207] synonym: "Daytime Urinary Incontinence" EXACT [] synonym: "Daytime Wetting" EXACT [] xref: MESH:D053207 xref: RDO:0007613 is_a: DOID:9008268 ! Enuresis [Term] id: DOID:9001014 name: Midline Granulomatosis xref: MESH:C538667 xref: RDO:0004586 is_a: DOID:12132 ! granulomatosis with polyangiitis [Term] id: DOID:9001015 name: Intestinal Fistula def: "An abnormal anatomical passage between the INTESTINE, and another segment of the intestine or other organs. External intestinal fistula is connected to the SKIN (enterocutaneous fistula). Internal intestinal fistula can be connected to a number of organs, such as STOMACH (gastrocolic fistula), the BILIARY TRACT (cholecystoduodenal fistula), or the URINARY BLADDER of the URINARY TRACT (colovesical fistula). Risk factors include inflammatory processes, cancer, radiation treatment, and surgical misadventures (MEDICAL ERRORS)." [MESH:D007412] synonym: "Cholecystoduodenal Fistula" EXACT [] synonym: "Colovesical Fistula" EXACT [] synonym: "Enterocutaneous Fistula" EXACT [] xref: MESH:D007412 is_a: DOID:5295 ! intestinal disease is_a: DOID:9008038 ! Digestive System Fistula [Term] id: DOID:9001016 name: Acquired Ichthyosis synonym: "Fish scale disease, acquired" EXACT [] synonym: "Ichthyosis acquisita" EXACT [] xref: MESH:C538175 is_a: DOID:1697 ! ichthyosis [Term] id: DOID:9001017 name: Pemphigus and Fogo Selvagem synonym: "Brazilian pemphigus" EXACT [] synonym: "Brazilian pemphigus foliaceus" EXACT [] synonym: "Endemic pemphigus foliaceus" EXACT [] synonym: "South American pemphigus" EXACT [] xref: MESH:C535551 xref: RDO:0000733 is_a: DOID:9182 ! pemphigus [Term] id: DOID:9001018 name: Mouth Abnormalities def: "Congenital absence of or defects in structures of the mouth." [MESH:D009056] synonym: "Mouth Abnormality" EXACT [] xref: MESH:D009056 is_a: DOID:403 ! mouth disease is_a: DOID:9006733 ! Stomatognathic System Abnormalities [Term] id: DOID:9001019 name: Typhlitis def: "Necrotizing inflammation of the CECUM ('typhlon' in Greek), sometimes spreading to the APPENDIX and/or the ILEUM. Symptoms include ABDOMINAL PAIN and DIARRHEA. Its pathogenesis is multifactorial. Typhlitis is often associated with NEUTROPENIA and chemotherapy in immunocompromised individuals (IMMUNOCOMPROMISED HOST)." [MESH:D053706] synonym: "Cecitis" EXACT [] synonym: "Neutropenic Typhlitis" EXACT [] xref: MESH:D053706 is_a: DOID:1518 ! cecal disease is_a: DOID:2326 ! gastroenteritis is_a: DOID:9002654 ! Intraabdominal Infections [Term] id: DOID:9001020 name: Eye Manifestations def: "Ocular disorders attendant upon non-ocular disease or injury." [MESH:D005132] synonym: "Eye Manifestation" EXACT [] xref: MESH:D005132 is_a: DOID:5614 ! eye disease is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9001022 name: Congenital Disorder of Glycosylation with Defective Fucosylation def: "An autosomal recessive multisystemic disorder apparent from birth. Affected infants have poor growth, failure to thrive, hypotonia, skeletal anomalies, and delayed psychomotor development with intellectual disability." [] synonym: "CDGF" EXACT [] xref: MIM:PS618005 is_a: DOID:5212 ! congenital disorder of glycosylation created_by: slaulede creation_date: 2019-01-11T13:49:39Z [Term] id: DOID:9001023 name: Absence of Septum Pellucidum xref: MESH:C535562 xref: RDO:0000757 is_a: DOID:0060857 ! septooptic dysplasia [Term] id: DOID:9001024 name: Calabro Syndrome xref: MESH:C537960 is_a: DOID:10426 ! Klippel-Feil syndrome is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9001627 ! Pathologic Constriction is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9001025 name: Progressive Ophthalmoplegia with Scrotal Tongue and Mental Deficiency alt_id: MIM:165150 xref: MESH:C563498 is_a: DOID:1059 ! intellectual disability is_a: DOID:11514 ! fissured tongue is_a: DOID:539 ! ophthalmoplegia [Term] id: DOID:9001026 name: Pulmonary Surfactant Metabolism Dysfunction 1 alt_id: MIM:265120 synonym: "congenital pulmonary alveolar proteinosis 1" EXACT [] synonym: "Interstitial Lung Disease Due To Surfactant Protein B Deficiency" EXACT [] synonym: "nonspecific interstitial lung disease due to surfactant protein B deficiency" EXACT [] synonym: "RAB5B-ASSOCIATED SURFACTANT DYSFUNCTION DISORDER" NARROW [] synonym: "SMDP1" EXACT [] xref: MESH:C566882 xref: NCI:C99068 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis [Term] id: DOID:9001027 name: Tropical Calcific Pancreatitis alt_id: MIM:608189 synonym: "TCP" EXACT [] xref: MESH:C564276 xref: RDO:0013298 is_a: DOID:182 ! calcinosis is_a: DOID:9006190 ! Chronic Pancreatitis [Term] id: DOID:9001028 name: Scalp Defects, Postaxial Polydactyly alt_id: MIM:181250 synonym: "congenital scalp defects associated with postaxial polydactyly" EXACT [] synonym: "scalp defects and postaxial polydactyly" EXACT [] xref: MESH:C536622 is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9001029 name: Essential Athrombia alt_id: MIM:209050 xref: MESH:C565927 is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:9001030 name: Multiple Primary Neoplasms alt_id: RDO:0005711 def: "Two or more abnormal growths of tissue occurring simultaneously and presumed to be of separate origin. The neoplasms may be histologically the same or different, and may be found in the same or different sites." [MESH:D009378] synonym: "multiple primary neoplasm" EXACT [] synonym: "Synchronous Multiple Primary Neoplasms" EXACT [] synonym: "Synchronous Neoplasm" EXACT [] synonym: "synchronous neoplasms" EXACT [] xref: MESH:D009378 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:9001031 name: Retrognathia def: "A physical misalignment of the upper (maxilla) and lower (mandibular) jaw bones in which either or both recede relative to the frontal plane of the forehead." [MESH:D063173] synonym: "Mandibular Retroposition" EXACT [] synonym: "Mandibular Retropositions" EXACT [] synonym: "Mandibular Retrusion" EXACT [] synonym: "Mandibular Retrusions" EXACT [] synonym: "Maxillary Retroposition" EXACT [] synonym: "Maxillary Retropositions" EXACT [] synonym: "Maxillary Retrusion" EXACT [] synonym: "Maxillary Retrusions" EXACT [] synonym: "Retrognathias" EXACT [] synonym: "Retrognathism" EXACT [] synonym: "Retrognathisms" EXACT [] xref: MESH:D063173 is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9006309 ! Mandibular Diseases [Term] id: DOID:9001033 name: Friedreich Ataxia Congenital Glaucoma alt_id: MIM:229310 synonym: "Congenital glaucoma and Friedreich ataxia" EXACT [] xref: MESH:C538061 is_a: DOID:12705 ! Friedreich ataxia is_a: DOID:1686 ! glaucoma [Term] id: DOID:9001034 name: Odontodysplasia def: "A localized arrested tooth development which appears to involve most commonly the anterior teeth, usually on one side of the midline, most often the maxillary central and lateral incisors. Roentgenographically, the teeth have a ghostlike appearance. Calcification and bits of prismatic enamel may be found in the pulp and the enamel is thin and absent in part. (Jablonski, Illustrated Dictionary of Dentistry, 1982)" [MESH:D018126] synonym: "Ghost Teeth" EXACT [] synonym: "Ghost Tooth" EXACT [] synonym: "odontodysplasias" EXACT [] synonym: "Odontogenesis Imperfecta" EXACT [] synonym: "Odontogenic Dysplasia" EXACT [] synonym: "odontogenic dysplasias" EXACT [] xref: MESH:D018126 is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9001035 name: Hypercalciuria, Childhood Idiopathic xref: MESH:C536082 xref: RDO:0001508 is_a: DOID:9001738 ! Hypercalciuria [Term] id: DOID:9001036 name: Penetrating Head Injuries def: "Head injuries which feature compromise of the skull and dura mater. These may result from gunshot wounds (WOUNDS, GUNSHOT), stab wounds (WOUNDS, STAB), and other forms of trauma." [MESH:D020197] synonym: "cortical stab injury" NARROW [] synonym: "Penetrating Brain Injuries" EXACT [] synonym: "Penetrating Brain Injury" EXACT [] synonym: "Penetrating Cranial Trauma" EXACT [] synonym: "Penetrating Cranial Traumas" EXACT [] synonym: "Penetrating Craniocerebral Trauma" EXACT [] synonym: "Penetrating Craniocerebral Traumas" EXACT [] synonym: "Penetrating Head Injury" EXACT [] synonym: "Penetrating Head Trauma" EXACT [] synonym: "Penetrating Head Traumas" EXACT [] synonym: "Penetrating Missile Injuries, Head" EXACT [] xref: MESH:D020197 is_a: DOID:9000656 ! Penetrating Wounds is_a: DOID:9007621 ! Craniocerebral Trauma [Term] id: DOID:9001038 name: GSD IV, Neuromuscular Form, Congenital xref: MESH:C565542 xref: RDO:0014150 is_a: DOID:2750 ! glycogen storage disease IV is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:9001039 name: Leukocytosis def: "A transient increase in the number of leukocytes in a body fluid." [MESH:D007964] synonym: "Leukocytoses" EXACT [] synonym: "Pleocytoses" EXACT [] synonym: "Pleocytosis" EXACT [] xref: MESH:D007964 is_a: DOID:9004611 ! Pathologic Processes is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9001040 name: Sinus Node Disease and Myopia alt_id: MIM:182190 synonym: "Sick Sinus Syndrome and Myopia" EXACT [] synonym: "SSS-Myopia Syndrome" EXACT [] xref: MESH:C566690 is_a: DOID:11830 ! myopia is_a: DOID:13884 ! sick sinus syndrome [Term] id: DOID:9001041 name: Asphyxia def: "A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life." [MESH:D001237] synonym: "Asphyxias" EXACT [] synonym: "Suffocation" EXACT [] synonym: "Suffocations" EXACT [] xref: EFO:0009446 xref: MESH:D001237 is_a: DOID:9000543 ! Death is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001042 name: Neurodevelopmental Disorder with Seizures and Brain Abnormalities def: "An autosomal recessive neurologic disorder characterized by global developmental delay and onset of seizures in the first months of life associated with structural brain defects on brain imaging. Caused by homozygous mutation in the CLCN3 gene on chromosome 4q33." [MIM:619517] synonym: "NEDSBA" EXACT [] xref: MIM:619517 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006534 ! Nervous System Malformations created_by: mtutaj creation_date: 2022-11-21T16:11:15Z [Term] id: DOID:9001043 name: Medically Unexplained Symptoms def: "Persistent health symptoms which remain unexplained after a complete medical evaluation. A cluster of symptoms that consistently appear together but without a known cause are referred to as a MEDICALLY UNEXPLAINED SYNDROME (MUS)." [MESH:D000071896] synonym: "Medically Unexplained Symptom" EXACT [] synonym: "Somatic Symptom" EXACT [] synonym: "Somatic Symptoms" EXACT [] xref: MESH:D000071896 xref: RDO:0016110 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9001044 name: Choroidal Neovascularization def: "A pathological process consisting of the formation of new blood vessels in the CHOROID." [MESH:D020256] synonym: "Choroidal Neovascularizations" EXACT [] synonym: "Choroid Neovascularization" EXACT [] synonym: "Choroid Neovascularizations" EXACT [] xref: MESH:D020256 xref: RDO:0007376 is_a: DOID:1417 ! choroid disease is_a: DOID:9002493 ! Ocular Neovascularization is_a: DOID:9003204 ! Neovascularization, Pathologic [Term] id: DOID:9001045 name: Chromosome 3, Monosomy 3p2 synonym: "Chromosome 3, deletion of distal 3p" EXACT [] synonym: "Chromosome 3, distal 3p monosomy" EXACT [] synonym: "Chromosome 3 distal deletion" EXACT [] synonym: "Monosomy 3p2" EXACT [] xref: MESH:C536806 xref: RDO:0002498 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9001046 name: Desbuquois Dysplasia 2 def: "Desbuquois dysplasia-2 (DBQD2) is caused by homozygous or compound heterozygous mutation in the XYLT1 gene on chromosome 16p12." [] synonym: "Baratela-Scott syndrome" EXACT [] synonym: "DBQD2" EXACT [] xref: MIM:615777 is_a: DOID:0060462 ! Desbuquois dysplasia created_by: rgd creation_date: 2017-03-03T00:00:00Z [Term] id: DOID:9001047 name: Slipped Capital Femoral Epiphyses alt_id: MIM:182260 def: "A developmental deformity in which the metaphysis of the FEMUR moves proximally and anteriorly away from FEMUR HEAD (epiphysis) at the upper GROWTH PLATE. It is most common in male adolescents and is associated with a greater risk of early OSTEOARTHRITIS of the hip." [MESH:D060048] synonym: "Adolescent Coxa Vara" EXACT [] synonym: "adolescent coxa varas" EXACT [] synonym: "Bilateral Slipped Capital Femoral Epiphyses" EXACT [] synonym: "Bilateral Slipped Capital Femoral Epiphysis" EXACT [] synonym: "Epiphysiolysis Capitis Femoris" EXACT [] synonym: "Slipped Capital Femoral Epiphysis" EXACT [] synonym: "Unilateral Slipped Capital Femoral Epiphyses" EXACT [] synonym: "unilateral slipped capital femoral epiphysis" EXACT [] xref: MESH:D060048 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007203 ! Slipped Epiphyses [Term] id: DOID:9001048 name: Nociceptive Pain def: "Dull or sharp aching pain caused by stimulated NOCICEPTORS due to tissue injury, inflammation or diseases. It can be divided into somatic or tissue pain and VISCERAL PAIN." [MESH:D059226] synonym: "Nociceptive Pains" EXACT [] synonym: "Somatic Pain" EXACT [] synonym: "Somatic Pains" EXACT [] synonym: "Tissue Pain" EXACT [] synonym: "Tissue Pains" EXACT [] xref: MESH:D059226 is_a: DOID:9000641 ! Pain [Term] id: DOID:9001049 name: Staphylococcal Pneumonia def: "Pneumonia caused by infections with bacteria of the genus STAPHYLOCOCCUS, usually with STAPHYLOCOCCUS AUREUS." [MESH:D011023] synonym: "Methicillin-Resistant Staphylococcus Aureus Pneumonia" NARROW [] synonym: "Staphylococcal Pneumonias" EXACT [] synonym: "Staphylococcus Aureus Pneumonia" EXACT [] synonym: "Staphylococcus Aureus Pneumonias" EXACT [] xref: EFO:0007496 xref: EFO:0008556 xref: MESH:D011023 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9008885 ! Staphylococcal Infections [Term] id: DOID:9001050 name: Short QT Syndrome 2 alt_id: MIM:609621 synonym: "KCNQ1-related short QT syndrome" EXACT [] synonym: "SHORT QT SYNDROME TYPE 2" EXACT [] synonym: "SQT2" EXACT [] xref: MESH:C566505 is_a: DOID:0050793 ! short QT syndrome is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9001051 name: Seroma def: "Tumor-like sterile accumulation of serum in a tissue, organ, or cavity. It results from a tissue insult and is the product of tissue inflammation. It most commonly occurs following MASTECTOMY." [MESH:D049291] synonym: "Seromas" EXACT [] xref: MESH:D049291 is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9001052 name: Spondylospinal Thoracic Dysostosis alt_id: MIM:601809 xref: MESH:C566622 is_a: DOID:1934 ! dysostosis is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006836 ! Contracture [Term] id: DOID:9001053 name: Facial Injuries def: "General or unspecified injuries to the soft tissue or bony portions of the face." [MESH:D005151] synonym: "Facial Injury" EXACT [] xref: MESH:D005151 xref: RDO:0005558 is_a: DOID:9007621 ! Craniocerebral Trauma [Term] id: DOID:9001054 name: Chromosome 2, Monosomy 2q24 synonym: "Deletion 2q24" EXACT [] synonym: "Monosomy 2q24" EXACT [] xref: MESH:C538316 xref: RDO:0004278 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9001055 name: Oculoauriculofrontonasal Syndrome alt_id: MIM:601452 synonym: "oculoauriculofrontonasal dysplasia" EXACT [] xref: MESH:C537865 is_a: DOID:225 ! syndrome is_a: DOID:9007870 ! Respiratory System Abnormalities is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001056 name: Holoprosencephaly 14 def: "An autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum. Caused by homozygous mutation in PLCH1 gene on chromosome 3q25." [MIM:619895] synonym: "HPE14" EXACT [] xref: MIM:619895 is_a: DOID:4621 ! holoprosencephaly created_by: mtutaj creation_date: 2022-05-31T08:12:18Z [Term] id: DOID:9001057 name: Autosomal Recessive Congenital Ichthyosis, Ichthyin-Related synonym: "Arcii" EXACT [] xref: MESH:C567370 xref: RDO:0015458 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:9001058 name: Solar Urticaria def: "Chromophore-dependent photodermatosis triggered by UV and visible light." [] xref: MESH:D000092130 is_a: DOID:1555 ! urticaria created_by: mtutaj creation_date: 2022-12-12T14:12:55Z [Term] id: DOID:9001059 name: Inhibition of Lymphoblastic Transformation alt_id: MIM:247430 xref: MESH:C565433 is_a: DOID:2914 ! immune system disease [Term] id: DOID:9001060 name: JOUBERT SYNDROME 35 synonym: "JBTS35" EXACT [] xref: MIM:618161 is_a: DOID:0050777 ! Joubert syndrome created_by: slaulede creation_date: 2018-12-06T15:50:34Z [Term] id: DOID:9001061 name: Atypical Krabbe Disease due to Saposin A Deficiency alt_id: MIM:611722 synonym: "KRBSAPA" EXACT [] synonym: "Saposin A Deficiency" EXACT [] xref: MESH:C567097 is_a: DOID:10587 ! Krabbe disease [Term] id: DOID:9001062 name: Normal Tension Glaucoma alt_id: RDO:0009042 synonym: "Normal Pressure Glaucoma, Susceptibility To" RELATED [] synonym: "Normal Tension Glaucomas" EXACT [] synonym: "Normal Tension Glaucoma, Susceptibility To" RELATED [] synonym: "NPG" EXACT [] synonym: "NTG" EXACT [] xref: MIM:606657 is_a: DOID:1686 ! glaucoma [Term] id: DOID:9001063 name: Viral Skin Diseases def: "Skin diseases caused by viruses." [MESH:D017193] synonym: "Viral Skin Disease" EXACT [] xref: MESH:D017193 xref: RDO:0005546 is_a: DOID:9000859 ! Infectious Skin Diseases is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9001064 name: Hao-Fountain Syndrome def: "This disease is a neurodevelopmental disorder characterized by global developmental delay, variably impaired intellectual development with significant speech delay, behavioral abnormalities, such as autism, and mild dysmorphic facies." [] synonym: "chromosome 16p13.2 deletion syndrome" RELATED [] synonym: "HAFOUS" EXACT [] synonym: "HAO-FOUNTAIN SYNDROME DUE TO USP7 MUTATION" EXACT [] synonym: "intellectual developmental disorder with impaired speech, behavioral abnormalities, and dysmorphic facies" EXACT [] synonym: "USP7-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:616863 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2020-06-16T12:25:58Z [Term] id: DOID:9001065 name: Noncirrhotic Portal Hypertension 1 def: "An autosomal recessive disorder characterized by onset of portal hypertension associated with hepatosplenomegaly in the first or second decades of life, in the absence of cirrhosis, known extrahepatic diseases, or splanchnic venous thrombosis. Caused by homozygous mutation in the DGUOK gene on chromosome 2p13. (OMIM)" [] synonym: "NCPH1" EXACT [] xref: MIM:617068 is_a: DOID:10762 ! portal hypertension created_by: mtutaj creation_date: 2021-08-06T16:09:45Z [Term] id: DOID:9001066 name: Laryngocele def: "Congenital anomalous dilitation of the laryngeal saccule that may extend internally into the airway or externally through the thyrohyoid membrane." [MESH:D059608] synonym: "Laryngoceles" EXACT [] xref: MESH:D059608 is_a: DOID:786 ! laryngeal disease is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:9001067 name: Familial Macrocytosis alt_id: MIM:600084 alt_id: RDO:0013107 xref: MESH:C564004 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:9001069 name: Bardet-Biedl Syndrome 6/10, Digenic xref: RDO:9001091 is_a: DOID:0110128 ! Bardet-Biedl syndrome 6 is_a: DOID:0110132 ! Bardet-Biedl syndrome 10 [Term] id: DOID:9001070 name: Schofer Beetz Bohl Syndrome xref: MESH:C535949 is_a: DOID:1059 ! intellectual disability is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:9005627 ! Metabolic Brain Diseases is_a: DOID:9409 ! diabetes insipidus [Term] id: DOID:9001072 name: Abducens Nerve Injury def: "Traumatic injury to the abducens, or sixth, cranial nerve. Injury to this nerve results in lateral rectus muscle weakness or paralysis. The nerve may be damaged by closed or penetrating CRANIOCEREBRAL TRAUMA or by facial trauma involving the orbit." [MESH:D020222] synonym: "Abducens Nerve Injuries" EXACT [] synonym: "Abducens Nerve Trauma" EXACT [] synonym: "Abducens Nerve Traumas" EXACT [] synonym: "Cranial Nerve VI Injury" EXACT [] synonym: "Sixth Cranial Nerve Injuries" EXACT [] synonym: "Sixth Cranial Nerve Injury" EXACT [] synonym: "Sixth Nerve Trauma" EXACT [] synonym: "Sixth-Nerve Traumas" EXACT [] synonym: "Traumatic Abducens Neuropathies" EXACT [] synonym: "Traumatic Abducens Neuropathy" EXACT [] synonym: "Traumatic Sixth-Nerve Palsies" EXACT [] synonym: "Traumatic Sixth Nerve Palsy" EXACT [] xref: MESH:D020222 is_a: DOID:10865 ! abducens nerve palsy is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9001073 name: Precocious Graying of Hair alt_id: MIM:139100 synonym: "premature white hair" EXACT [] xref: MESH:C564209 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:9001074 name: Posterior Leukoencephalopathy Syndrome def: "A condition that is characterized by HEADACHE; SEIZURES; and visual loss with edema in the posterior aspects of the CEREBRAL HEMISPHERES, such as the BRAIN STEM. Generally, lesions involve the white matter (nerve fibers) but occasionally the grey matter (nerve cell bodies)." [MESH:D054038] synonym: "Posterior leukoencephalopathy syndromes" EXACT [] synonym: "Posterior reversible encephalopathy syndrome" EXACT [] synonym: "Posterior reversible leukoencephalopathy syndrome" EXACT [] xref: EFO:1001829 xref: MESH:D054038 is_a: DOID:225 ! syndrome is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9427 ! hypertensive encephalopathy [Term] id: DOID:9001075 name: Cerebelloparenchymal Disorder VI xref: MESH:C563564 xref: RDO:0012789 is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:9001077 name: Spinal Injuries def: "Injuries involving the vertebral column." [MESH:D013124] synonym: "Spinal Injury" EXACT [] xref: MESH:D013124 is_a: DOID:9002683 ! Back Injuries [Term] id: DOID:9001078 name: Fibrocartilaginous Embolism synonym: "Nucleus pulposus embolism" EXACT [] xref: MESH:C537927 is_a: DOID:1222 ! cartilage disease is_a: DOID:9002522 ! Embolism [Term] id: DOID:9001079 name: Rinderpest def: "A viral disease of cloven-hoofed animals caused by MORBILLIVIRUS. It may be acute, subacute, or chronic with the major lesions characterized by inflammation and ulceration of the entire digestive tract. The disease was declared successfully eradicated worldwide in 2010." [MESH:D012301] synonym: "Cattle Plague" EXACT [] xref: MESH:D012301 is_a: DOID:9003860 ! Morbillivirus Infections is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9001080 name: Robinow Sorauf Syndrome alt_id: MIM:180750 synonym: "acrocephalosyndactyly, Robinow-Sorauf type" EXACT [] synonym: "craniosynostosis-bifid hallux syndrome" EXACT [] xref: MESH:C537183 is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:225 ! syndrome [Term] id: DOID:9001081 name: Erythema Chronicum Migrans def: "A deep type of gyrate erythema that follows a bite by an ixodid tick; it is a stage-1 manifestation of LYME DISEASE. The site of the bite is characterized by a red papule that expands peripherally as a nonscaling, palpable band that clears centrally. This condition is often associated with systemic symptoms such as chills, fever, headache, malaise, nausea, vomiting, fatigue, backache, and stiff neck." [MESH:D015787] xref: MESH:D015787 is_a: DOID:11729 ! Lyme disease is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9006976 ! Erythema [Term] id: DOID:9001082 name: Ectodermal Dysplasia with Natal Teeth, Turnpenny Type alt_id: MIM:601345 synonym: "ECTODERMAL DYSPLASIA, HAIR/TOOTH TYPE" EXACT [] xref: MESH:C563347 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9001083 name: Autosomal Recessive Woolly Hair synonym: "autosomal recessive woolly hair 1, with or without hypotrichosis" RELATED [] xref: MESH:C564735 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0111572 ! familial woolly hair syndrome [Term] id: DOID:9001084 name: Progressive Supranuclear Palsy 2 alt_id: MIM:609454 synonym: "PSNP2" EXACT [] xref: MESH:C563717 is_a: DOID:678 ! progressive supranuclear palsy [Term] id: DOID:9001085 name: wrist fractures synonym: "carpal fractures" EXACT [] synonym: "wrist fracture" EXACT [] xref: EFO:0009515 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9007634 ! Wrist Injuries created_by: slaulede creation_date: 2023-01-20T12:33:53Z [Term] id: DOID:9001086 name: Cerebellar Ataxia and Neurosensory Deafness alt_id: MIM:212850 xref: MESH:C565869 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:9001087 name: Opsoclonus-Myoclonus Syndrome def: "A neurological condition that is characterized by uncontrolled rapid irregular movements of the eye (OPSOCLONUS) and the muscle (MYOCLONUS) causing unsteady, trembling gait. It is also known as dancing eyes-dancing feet syndrome and is often associated with neoplasms, viral infections, or autoimmune disorders involving the nervous system." [MESH:D053578] synonym: "Dancing Eyes Dancing Feet Syndrome" EXACT [] synonym: "Infants Myoclonic Encephalopathies" EXACT [] synonym: "Infants Myoclonic Encephalopathy" EXACT [] synonym: "Kinsbourne Syndrome" EXACT [] synonym: "Myoclonic Encephalopathy of Infants" EXACT [] synonym: "Opsoclonus Myoclonus" EXACT [] synonym: "Opsoclonus Myoclonus Ataxia" EXACT [] synonym: "Paraneoplastic Opsoclonus Myoclonus Ataxia" EXACT [] xref: EFO:1001383 xref: MESH:D053578 xref: RDO:0000685 is_a: DOID:1279 ! ocular motility disease is_a: DOID:225 ! syndrome is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes is_a: DOID:9007722 ! Myoclonus [Term] id: DOID:9001088 name: Spondyloepimetaphyseal Dysplasia, Aggrecan Type alt_id: MIM:612813 synonym: "SEMDAG" EXACT [] synonym: "SEMD, Aggrecan Type" EXACT [] xref: MESH:C567558 xref: RDO:0015607 is_a: DOID:0080006 ! bone development disease is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001089 name: Cerebellar Ataxia and Hypergonadotropic Hypogonadism alt_id: MIM:605672 xref: MESH:C565308 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1924 ! hypogonadism [Term] id: DOID:9001090 name: Question Mark Ears, Isolated synonym: "AURICULAR CLEFT, CONGENITAL" EXACT [] synonym: "COSMAN DEFORMITY OF THE AURICLE" EXACT [] synonym: "EARS, PROMINENT AND CONSTRICTED" EXACT [] synonym: "QME" EXACT [] xref: MIM:612798 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:9001091 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES alt_id: MIM:618653 def: "An autosomal dominant disorder characterized by global developmental delay apparent from infancy, impaired language development, and dysmorphic facial features, including hypertelorism, epicanthal folds, and abnormal palpebral fissures." [MIM:618653] synonym: "IDDILF" EXACT [] xref: EFO:0010651 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies created_by: slaulede creation_date: 2020-01-09T18:27:09Z [Term] id: DOID:9001094 name: Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities synonym: "ISDNA" EXACT [] xref: MIM:617425 is_a: DOID:0080001 ! bone disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:2914 ! immune system disease is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9001095 name: Koone Rizzo Elias Syndrome synonym: "Ichthyosis, mental retardation and asymptomatic spasticity" EXACT [] xref: MESH:C537023 xref: RDO:0002775 is_a: DOID:1059 ! intellectual disability is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:9001096 name: Gorlin Chaudhry Moss Syndrome synonym: "Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies" EXACT [] synonym: "GCM syndrome" EXACT [] xref: MESH:C537290 is_a: DOID:13832 ! patent ductus arteriosus is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001097 name: Absence of Tibia with Congenital Deafness alt_id: MIM:275230 xref: MESH:C564764 is_a: DOID:9008681 ! Deafness [Term] id: DOID:9001098 name: Optic Nerve Aplasia, Bilateral xref: MESH:C563493 xref: RDO:0012736 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:9001099 name: Hydranencephaly with Renal Aplasia-Dysplasia xref: MESH:C565507 xref: RDO:0014123 is_a: DOID:4626 ! hydranencephaly is_a: DOID:557 ! kidney disease [Term] id: DOID:9001101 name: Gemignani Syndrome synonym: "Spinocerebellar ataxia associated with localized amyotrophy of the hands, sensorineural deafness and spastic paraparesis" EXACT [] xref: MESH:C537678 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:9002121 ! Spinocerebellar Ataxias is_a: DOID:9002598 ! Spastic Paraparesis [Term] id: DOID:9001102 name: Radiodermatitis def: "A cutaneous inflammatory reaction occurring as a result of exposure to ionizing radiation." [MESH:D011855] synonym: "Radiation-Induced Dermatitides" EXACT [] synonym: "Radiation Induced Dermatitis" EXACT [] synonym: "Radiation Recall Dermatitides" EXACT [] synonym: "Radiation Recall Dermatitis" EXACT [] synonym: "Radiation Recall Reaction" EXACT [] synonym: "Radiation Recall Reactions" EXACT [] synonym: "Radiodermatitides" EXACT [] xref: MESH:D011855 is_a: DOID:2723 ! dermatitis is_a: DOID:9000111 ! Radiation Injuries [Term] id: DOID:9001103 name: Heat Stress Disorders def: "A group of conditions that develop due to overexposure or overexertion in excessive environmental heat." [MESH:D018882] synonym: "Heat Cramp" EXACT [] synonym: "Heat Cramps" EXACT [] synonym: "Heat Stress Disorder" EXACT [] synonym: "Heat Stress Syndrome" EXACT [] synonym: "Heat Stress Syndromes" EXACT [] xref: MESH:D018882 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001104 name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 def: "Characterized by prenatal bladder enlargement, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition and urinary catheterization. Caused by homozygous or compound heterozygous mutation in the MYH11 gene on chromosome 16p13. (OMIM)" [] synonym: "MMIHS2" EXACT [] xref: MIM:619351 is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome created_by: mtutaj creation_date: 2021-05-28T13:28:27Z [Term] id: DOID:9001105 name: NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE def: "An autosomal recessive disorder characterized by onset of developmental regression with loss of early motor and cognitive milestones in the first year of life. Affected individuals show growth retardation with decreasing head circumference and poor feeding. Brain imaging shows cerebral, cerebellar, and brainstem atrophy and thin corpus callosum." [MIM:618973] synonym: "infantile-onset biotin-responsive neurodegeneration" EXACT [] synonym: "NERIB" EXACT [] synonym: "SODIUM-DEPENDENT MULTIVITAMIN TRANSPORTER DEFICIENCY SMVT DEFICIENCY" EXACT [] xref: MIM:618973 is_a: DOID:1289 ! neurodegenerative disease created_by: slaulede creation_date: 2020-12-15T13:00:54Z [Term] id: DOID:9001106 name: Congenital Muscular Dystrophy plus Mental Retardation alt_id: RDO:0014121 xref: MESH:C565505 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:1059 ! intellectual disability [Term] id: DOID:9001107 name: Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death alt_id: MIM:208910 xref: MESH:C565930 is_a: DOID:12704 ! ataxia telangiectasia is_a: DOID:9003984 ! Hyperpigmentation [Term] id: DOID:9001109 name: Anorexia def: "The lack or loss of APPETITE accompanied by an aversion to food and the inability to eat. It is the defining characteristic of the disorder ANOREXIA NERVOSA." [MESH:D000855] synonym: "Anorexias" EXACT [] xref: MESH:D000855 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9001110 name: Hermansky-Pudlak Syndrome 11 synonym: "HPS11" EXACT [] xref: MIM:619172 is_a: DOID:3753 ! Hermansky-Pudlak syndrome created_by: mtutaj creation_date: 2021-02-01T18:19:20Z [Term] id: DOID:9001111 name: Blast Injuries def: "Injuries resulting when a person is struck by particles impelled with violent force from an explosion. Blast causes pulmonary concussion and hemorrhage, laceration of other thoracic and abdominal viscera, ruptured ear drums, and minor effects in the central nervous system. (From Dorland, 27th ed)" [MESH:D001753] synonym: "Blast Injury" EXACT [] xref: MESH:D001753 is_a: DOID:9002160 ! Barotrauma [Term] id: DOID:9001112 name: Nievergelt Syndrome alt_id: MIM:163400 synonym: "Mesomelic dwarfism Nievergelt type" EXACT [] synonym: "Mesomelic Dysplasia, Nievergelt Type" EXACT [] xref: MESH:C536120 is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9009006 ! Mesomelic Dysplasia [Term] id: DOID:9001113 name: Stab Wounds def: "Penetrating wounds caused by a pointed object." [MESH:D014951] synonym: "Stab Wound" EXACT [] xref: MESH:D014951 is_a: DOID:9000656 ! Penetrating Wounds [Term] id: DOID:9001114 name: Immunodeficiency 94 with Autoinflammation and Dysmorphic Facies def: "A systemic immunologic disorder with onset in early infancy. Primary features include lymphadenopathy, autoinflammation, immunodeficiency with hypogammaglobulinemia, and dysmorphic facial features. caused by heterozygous gain-of-function mutation in the IL6ST gene on chromosome 5q11." [MIM:619750] synonym: "IMD94" EXACT [] xref: MIM:619750 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001487 ! Facies is_a: DOID:9004150 ! Lymphadenopathy is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2022-02-24T09:53:37Z [Term] id: DOID:9001115 name: Orbital Fractures def: "Fractures of the bones in the orbit, which include parts of the frontal, ethmoidal, lacrimal, and sphenoid bones and the maxilla and zygoma." [MESH:D009917] synonym: "Blow-Out Fracture" EXACT [] synonym: "Blow Out Fractures" EXACT [] synonym: "Orbital Fracture" EXACT [] xref: EFO:0009611 xref: MESH:D009917 is_a: DOID:9002209 ! Skull Fractures is_a: DOID:9004460 ! Maxillofacial Injuries [Term] id: DOID:9001116 name: Mental Retardation with Spastic Paraplegia alt_id: MIM:309640 xref: MESH:C564099 is_a: DOID:1059 ! intellectual disability is_a: DOID:607 ! paraplegia [Term] id: DOID:9001117 name: Aicardi-Goutieres Syndrome 8 def: "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration ending in premature death. Caused by homozygous or compound heterozygous mutation in the LSM11 gene on chromosome 5q33. (OMIM)" [] synonym: "AGS8" EXACT [] xref: MIM:619486 is_a: DOID:0050629 ! Aicardi-Goutieres syndrome created_by: mtutaj creation_date: 2021-08-25T10:47:23Z [Term] id: DOID:9001118 name: Equinus Deformity def: "Plantar declination of the foot." [MESH:D004863] synonym: "Equinus Contracture" EXACT [] synonym: "Equinus Contractures" EXACT [] synonym: "Equinus Deformities" EXACT [] synonym: "Talipes Equinovalgus" EXACT [] synonym: "Talipes Equinus" EXACT [] xref: MESH:D004863 is_a: DOID:9007152 ! Talipes [Term] id: DOID:9001119 name: chondromyxoid fibroma def: "This tumor is an uncommon benign cartilaginous neoplasm arising from the bone. It is characterized by the presence of spindle-shaped or stellate chondrocytes, a lobulated growth pattern, myxoid stroma formation, and sometimes multinucleated giant cells. It has been associated with chromosomal rearrangement of 6q13 and 6q25 bands. The most common clinical symptom is mild, localized pain." [NCI:C3830] xref: EFO:0000332 is_a: DOID:0050871 ! fibroma is_a: DOID:0060094 ! bone benign neoplasm created_by: slaulede creation_date: 2023-01-10T18:08:06Z [Term] id: DOID:9001121 name: Platybasia def: "A developmental deformity of the occipital bone and upper end of the cervical spine, in which the latter appears to have pushed the floor of the occipital bone upward. (Dorland, 27th ed)" [MESH:D010985] synonym: "Basilar Impression" EXACT [] synonym: "Basilar Impressions" EXACT [] synonym: "Platybasias" EXACT [] xref: MESH:D010985 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080006 ! bone development disease is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001122 name: Onat Syndrome alt_id: MIM:271960 synonym: "Subaortic stenosis short stature syndrome" EXACT [] xref: MESH:C537749 is_a: DOID:1712 ! aortic valve stenosis is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001123 name: Preeclampsia/Eclampsia 2 alt_id: MIM:609402 synonym: "PEE2" EXACT [] xref: MESH:C563726 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:9001124 name: Chromosome 4 Short Arm Deletion synonym: "Chromosome 4p deletion" EXACT [] synonym: "Deletion 4p" EXACT [] synonym: "Monosomy 4p" EXACT [] xref: MESH:C537637 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9001125 name: Vohwinkel Syndrome, Variant Form alt_id: MIM:604117 synonym: "LORICRIN KERATODERMA" EXACT [] synonym: "Mutilating Keratoderma with Ichthyosis" EXACT [] synonym: "Vohwinkel Syndrome with Ichthyosis" EXACT [] xref: MESH:C565826 xref: RDO:0014364 is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9001127 name: Porokeratosis 2, Palmar, Plantar, and Disseminated Type alt_id: MIM:175850 def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Porokeratosis palmaris plantaris et disseminata (PPPD) is a subtype in which lesions initially develop on the palms and soles, but later involve other parts of the body, including the trunk and limbs. POROK2 maps to chromosome 12q24. (OMIM)" [] synonym: "POROK2" EXACT [] synonym: "porokeratosis palmaris et plantaris disseminata" EXACT [] synonym: "porokeratosis, palmar, plantar, and disseminated" EXACT [] synonym: "porokeratosis, palmar, plantar, and disseminated 1" EXACT [] synonym: "Porokeratosis Punctata Palmaris et Plantaris" EXACT [] synonym: "PPPD" EXACT [] synonym: "PPPD1" EXACT [] xref: MESH:C536338 is_a: DOID:0060361 ! punctate palmoplantar keratoderma is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9001128 name: Usher Syndrome, Type 2B synonym: "USHER SYNDROME, TYPE IIB" EXACT [] xref: MESH:C536491 xref: RDO:0002093 is_a: DOID:0110827 ! Usher syndrome type 2 [Term] id: DOID:9001129 name: Alcohol Withdrawal Delirium def: "An acute organic mental disorder induced by cessation or reduction in chronic alcohol consumption. Clinical characteristics include CONFUSION; DELUSIONS; vivid HALLUCINATIONS; TREMOR; agitation; insomnia; and signs of autonomic hyperactivity (e.g., elevated blood pressure and heart rate, dilated pupils, and diaphoresis). This condition may occasionally be fatal. It was formerly called delirium tremens. (From Adams et al., Principles of Neurology, 6th ed, p1175)" [MESH:D000430] synonym: "Alcohol Withdrawal Associated Autonomic Hyperactivity" EXACT [] synonym: "Alcohol Withdrawal Hallucinosis" EXACT [] synonym: "Alcohol Withdrawal Induced Delirium Tremens" EXACT [] synonym: "Delirium Tremens" EXACT [] xref: EFO:1000800 xref: MESH:D000430 is_a: DOID:9002735 ! alcohol withdrawal syndrome is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System [Term] id: DOID:9001130 name: Limb-Girdle Myasthenia, with Tubular Aggregates alt_id: RDO:0014787 xref: MESH:C566434 is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:9001131 name: stress-related disorder def: "This is a mental health disorder that is the result of an atypical response to both short and long-term anxiety due to physical, mental, or emotional stress." [EFO:0010098] synonym: "stress-related disorders" EXACT [] xref: EFO:0010098 is_a: DOID:9004763 ! Trauma and Stressor Related Disorders created_by: slaulede creation_date: 2023-01-27T10:18:20Z [Term] id: DOID:9001134 name: Cryptomicrotia Brachydactyly Syndrome alt_id: MIM:123560 synonym: "Cryptomicrotia brachydactyly syndrome excess fingertip arch" EXACT [] synonym: "Tonoki Ohura Niikawa syndrome" EXACT [] xref: MESH:C536219 is_a: DOID:0050581 ! brachydactyly is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001135 name: Systemic Necrotizing Angiitis synonym: "Systemic necrotizing angitis" EXACT [] xref: MESH:C536779 is_a: DOID:9810 ! polyarteritis nodosa [Term] id: DOID:9001136 name: Familial Cerebral Cavernous Malformation synonym: "Familial cavernous hemangioma" EXACT [] synonym: "Familial cerebral cavernous angioma" EXACT [] xref: GARD:13641 xref: MESH:C536610 xref: MONDO:0031037 is_a: DOID:0060669 ! cerebral cavernous malformation [Term] id: DOID:9001137 name: Mesomelic Dysplasia, Camera Type alt_id: MIM:611886 xref: MESH:C567503 is_a: DOID:9009006 ! Mesomelic Dysplasia [Term] id: DOID:9001138 name: Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract alt_id: MIM:226985 xref: MESH:C565584 is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001139 name: Androgenetic Alopecia 2 alt_id: MIM:300710 alt_id: RDO:0015536 synonym: "AGA2" EXACT [] xref: MESH:C567473 is_a: DOID:987 ! alopecia [Term] id: DOID:9001140 name: Familial Partial Lipodystrophy Type 7 alt_id: MIM:606721 synonym: "FPLD7" EXACT [] synonym: "LCCNS" EXACT [] synonym: "Lipodystrophy with Congenital Cataracts and Neurodegeneration" EXACT [] synonym: "PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME" EXACT [] xref: MESH:C564669 is_a: DOID:0050440 ! familial partial lipodystrophy is_a: DOID:83 ! cataract is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:9001141 name: Autosomal Dominant Intellectual Developmental Disorder 66 def: "Characterized by global developmental delay with mild to moderately impaired intellectual development and mild speech delay. Caused by heterozygous mutation in the ATP2B1 gene on chromosome 12q21." [MIM:619910] synonym: "autosomal dominant mental retardation 66" EXACT [] synonym: "MRD66" EXACT [] xref: MIM:619910 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2022-06-13T11:22:27Z [Term] id: DOID:9001142 name: Drug-Induced Agranulocytosis def: "Agranulocytosis related to ingestion of a specific medication (e.g.:clozapine). " [] synonym: "clozapine-induced agranulocytosis" NARROW [] xref: RDO:9001180 is_a: DOID:9004289 ! Drug-Induced Leukopenia is_a: DOID:9007038 ! Acquired Agranulocytosis created_by: rgd creation_date: 2016-06-01T00:00:00Z [Term] id: DOID:9001143 name: Intertrigo def: "A superficial dermatitis occurring on skin surfaces in contact with each other, such as the axillae, neck creases, intergluteal fold, between the toes, etc. Obesity is a predisposing factor. The condition is caused by moisture and friction and is characterized by erythema, maceration, burning, and exudation." [MESH:D007402] xref: MESH:D007402 is_a: DOID:2723 ! dermatitis is_a: DOID:9004383 ! Eczematous Skin Diseases [Term] id: DOID:9001144 name: Primary Headache Disorders alt_id: RDO:0006127 def: "Conditions in which the primary symptom is HEADACHE and the headache cannot be attributed to any known causes." [MESH:D051270] synonym: "Alarm Clock Headache" EXACT [] synonym: "alarm clock headaches" EXACT [] synonym: "Benign Cough Headache" EXACT [] synonym: "Benign Cough Headaches" EXACT [] synonym: "Benign Exertional Headache" EXACT [] synonym: "Benign Exertional Headaches" EXACT [] synonym: "Cough Headache" EXACT [] synonym: "Hypnic Headache" EXACT [] synonym: "Hypnic Headache Syndrome" EXACT [] synonym: "Hypnic Headache Syndromes" EXACT [] synonym: "Ice Pick Headache" EXACT [] synonym: "Ice-Pick Headaches" EXACT [] synonym: "Primary Cough Headache" EXACT [] synonym: "Primary Exertional Headache" EXACT [] synonym: "Primary Headache Disorder" EXACT [] synonym: "Primary Stabbing Headache" EXACT [] synonym: "Primary Thunderclap Headache" EXACT [] synonym: "Stabbing Headache" EXACT [] synonym: "thunderclap headache" EXACT [] xref: MESH:D051270 is_a: DOID:9007953 ! Headache Disorders [Term] id: DOID:9001145 name: Junctional Epidermolysis Bullosa 1B, Severe synonym: "JEB1B" EXACT [] xref: MIM:226700 is_a: DOID:0060737 ! junctional epidermolysis bullosa Herlitz type created_by: mtutaj creation_date: 2022-06-07T11:14:07Z [Term] id: DOID:9001146 name: Neurodevelopmental Disorder with Hypotonia and Cerebellar Atrophy, with or without Seizures synonym: "glycosylphosphatidylinositol biosynthesis defect 22" EXACT [] synonym: "GPIBD22" EXACT [] synonym: "NEDHCAS" EXACT [] xref: MIM:618879 is_a: DOID:2786 ! cerebellar disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2020-07-13T12:27:18Z [Term] id: DOID:9001147 name: Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy alt_id: MIM:600142 synonym: "CARASIL" EXACT [] synonym: "CARASIL SYNDROME" EXACT [] synonym: "Cerebrovascular Disease with Thin Skin, Alopecia, and Disc Disease" EXACT [] synonym: "Familial Young-Adult-Onset Arteriosclerotic Leukoencephalopathy with Alopecia and Lumbago without Arterial Hypertension" EXACT [] synonym: "HTRA1-RELATED CEREBRAL SMALL VESSEL DISEASE" EXACT [] synonym: "MAEDA Syndrome" EXACT [] synonym: "Nemoto Disease" EXACT [] synonym: "progressive subcortical vascular encephalopathy" EXACT [] xref: MESH:C563990 xref: NCI:C202018 is_a: DOID:0060564 ! spinal disease is_a: DOID:13945 ! CADASIL is_a: DOID:3526 ! cerebral infarction is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:987 ! alopecia [Term] id: DOID:9001148 name: Esophageal Perforation def: "An opening or hole in the ESOPHAGUS that is caused by TRAUMA, injury, or pathological process." [MESH:D004939] synonym: "Esophageal Perforations" EXACT [] xref: MESH:D004939 is_a: DOID:6050 ! esophageal disease is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001150 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES def: "An autosomal recessive disorder characterized by severe global developmental delay." [MIM:618622] synonym: "ABNORMALITY OF THE CEREBRUM" NARROW [] synonym: "NEDMABA" EXACT [] xref: EFO:0010631 xref: MIM:618622 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2019-11-12T14:56:34Z [Term] id: DOID:9001151 name: Pili Torti Onychodysplasia synonym: "Twisted hair with nail dysplasias" EXACT [] xref: MESH:C537399 is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9001511 ! Pili Torti [Term] id: DOID:9001152 name: Mental Retardation, Keratoconus, Febrile Seizures, and Sinoatrial Block alt_id: MIM:609438 xref: MESH:C537452 is_a: DOID:10126 ! keratoconus is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:9003846 ! Sinoatrial Block [Term] id: DOID:9001153 name: FG Syndrome 4 def: "This disease is an X-linked recessive intellectual developmental disorder characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features." [] synonym: "CASK-related disorder" BROAD [] synonym: "FGS4" EXACT [] synonym: "INTELLECTUAL DISABILITY, CASK-RELATED, X-LINKED" BROAD [] synonym: "X-linked intellectual developmental disorder, with or without nystagmus" RELATED [] synonym: "X-linked mental retardation, CASK-related" BROAD [] synonym: "X-linked mental retardation, with nystagmus" RELATED [] synonym: "X-linked mental retardation, with or without nystagmus" RELATED [] xref: EFO:0010954 xref: MIM:300422 is_a: DOID:14711 ! FG syndrome created_by: mtutaj creation_date: 2020-02-17T12:57:19Z [Term] id: DOID:9001154 name: Flat Umbilicus Familial alt_id: MIM:609164 synonym: "Flat umbilicus autosomal dominant" EXACT [] xref: MESH:C537059 is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001155 name: Myasthenia Gravis with Thymus Hyperplasia alt_id: MIM:607085 synonym: "MYAS1" EXACT [] xref: MESH:C564628 xref: RDO:0013523 is_a: DOID:437 ! myasthenia gravis [Term] id: DOID:9001156 name: Oculootofacial Dysplasia xref: MESH:C563682 xref: RDO:0012877 is_a: DOID:10488 ! imperforate anus is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001158 name: Saito Kuba Tsuruta Syndrome alt_id: MIM:228940 synonym: "Fibuloulnar aplasia or hypoplasia with renal abnormalities" EXACT [] synonym: "Fibulo ulnar hypoplasia renal anomalies" EXACT [] xref: MESH:C537226 is_a: DOID:225 ! syndrome is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9001159 name: Familial Dyskeratotic Comedones alt_id: MIM:120450 xref: MESH:C562838 is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9008246 ! Papulosquamous Skin Diseases [Term] id: DOID:9001160 name: Pulmonary Bullae Causing Pneumothorax alt_id: MIM:265200 xref: MESH:C564863 is_a: DOID:1673 ! pneumothorax is_a: DOID:9008110 ! Blister [Term] id: DOID:9001161 name: Autoinflammatory Disease, Familial, Behcet-Like-3 synonym: "AIFBL3" EXACT [] synonym: "chronic mucocutaneous ulceration" EXACT [] synonym: "chronic mucocutaneous ulcerations" EXACT [] synonym: "CMCU" EXACT [] synonym: "RELA-RELATED CONDITION" EXACT [] xref: MIM:618287 is_a: DOID:2058 ! chronic mucocutaneous candidiasis is_a: DOID:9005986 ! Familial Behcet-Like Autoinflammatory Syndrome created_by: slaulede creation_date: 2019-07-15T12:46:03Z [Term] id: DOID:9001162 name: Cutis Verticis Gyrata, Retinitis Pigmentosa, and Sensorineural Deafness xref: MESH:C565306 xref: RDO:0013981 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:3136 ! scalp dermatosis [Term] id: DOID:9001163 name: Parkinsonism-Dystonia, Childhood-Onset, 3 def: "An autosomal recessive neurodegenerative disorder with onset in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the WARS2 gene on chromosome 1p12." [MIM:619738] synonym: "PKDYS3" EXACT [] synonym: "WARS2-RELATED CONDITION" BROAD [] synonym: "WARS2-RELATED DISORDER" BROAD [] xref: MIM:619738 is_a: DOID:0070487 ! dopamine transporter deficiency syndrome created_by: mtutaj creation_date: 2022-02-21T13:02:56Z [Term] id: DOID:9001164 name: Proctocolitis def: "Inflammation of the RECTUM and the distal portion of the COLON." [MESH:D011350] synonym: "Hemorrhagic Proctocolitis" EXACT [] synonym: "Hemorrhagic Rectocolitis" EXACT [] synonym: "Proctosigmoiditis" EXACT [] synonym: "Rectocolitis" EXACT [] synonym: "Rectosigmoiditis" EXACT [] synonym: "Ulcerative Proctocolitides" EXACT [] synonym: "Ulcerative Proctocolitis" EXACT [] synonym: "Ulcerative Rectocolitides" EXACT [] synonym: "Ulcerative Rectocolitis" EXACT [] xref: EFO:1001223 xref: MESH:D011350 is_a: DOID:0060180 ! colitis is_a: DOID:1897 ! sigmoid disease is_a: DOID:3127 ! proctitis [Term] id: DOID:9001165 name: pemphigus herpetiformis def: "This is a rare autoimmune bullous skin disorder that is considered a clinical variant of pemphigus. Classically, it combines the clinical features of dermatitis herpetiformis with the immunopathologic features of pemphigus." [EFO:0008606] synonym: "PH" EXACT [] xref: EFO:0008606 is_a: DOID:9182 ! pemphigus created_by: slaulede creation_date: 2023-01-16T17:46:54Z [Term] id: DOID:9001166 name: atypical femoral fracture def: "This is a stress or insufficency fracture occurring in the femoral shaft, typically in response to long-term antiresorptive treatment. The term 'atypical' refers to the deviant transverse pattern on the fracture-line on radiographs of the affected femur." [EFO:0009960] synonym: "bisphosphonate-related proximal femoral fracture" EXACT [] xref: EFO:0009960 is_a: DOID:9008763 ! Femoral Fractures created_by: slaulede creation_date: 2023-01-13T10:18:53Z [Term] id: DOID:9001167 name: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern." [MIM:619244] synonym: "NEDCAFD" EXACT [] xref: MIM:619244 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9004462 ! Atrophy is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulede creation_date: 2021-05-14T10:49:24Z [Term] id: DOID:9001169 name: Ridges-off-the-end Syndrome alt_id: MIM:125550 synonym: "Dermal Ridges-Off-The-End" EXACT [] xref: MESH:C531754 is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9001170 name: Stoll Alembik Dott Syndrome synonym: "Ventricular extrasystoles with syncope, perodactyly, and robin sequence" EXACT [] xref: MESH:C537497 is_a: DOID:225 ! syndrome is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9000727 ! Syncope is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007033 ! Ventricular Premature Complexes [Term] id: DOID:9001171 name: Acrorenal Syndrome Recessive alt_id: MIM:201310 alt_id: RDO:0000916 synonym: "Acrorenal syndrome autosomal recessive" EXACT [] synonym: "Curran syndrome" EXACT [] xref: MESH:C535666 is_a: DOID:0060347 ! acrorenal syndrome is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:9001172 name: FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 19 synonym: "cardiomyopathy familial hypertrophic 19" EXACT [] synonym: "CMH19" EXACT [] is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy created_by: slaulede creation_date: 2019-10-08T17:29:07Z [Term] id: DOID:9001173 name: ACTH Syndrome, Ectopic def: "Symptom complex due to ACTH production by non-pituitary neoplasms." [MESH:D000182] synonym: "Ectopic ACTH Syndromes" EXACT [] xref: EFO:1001256 xref: MESH:D000182 xref: RDO:0004721 is_a: DOID:9006730 ! Paraneoplastic Endocrine Syndromes [Term] id: DOID:9001174 name: Nakajo Syndrome synonym: "Nodular erythema digital changes" EXACT [] synonym: "Nodular Erythema With Digital Changes" EXACT [] xref: MESH:C538334 is_a: DOID:0080750 ! erythema nodosum is_a: DOID:225 ! syndrome [Term] id: DOID:9001175 name: Ganglioneuromatosis of the Alimentary Tract xref: MESH:C563519 is_a: DOID:10016 ! multiple endocrine neoplasia type 2B is_a: DOID:4817 ! ganglioneuroma is_a: DOID:9004351 ! Digestive System Neoplasms [Term] id: DOID:9001176 name: Hyperamylasemia def: "A condition with abnormally elevated level of AMYLASES in the serum. Hyperamylasemia due to PANCREATITIS or other causes may be differentiated by identifying the amylase isoenzymes." [MESH:D034321] synonym: "Macroamylasemia" EXACT [] xref: EFO:1000969 xref: MESH:D034321 xref: RDO:0007485 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9001177 name: Central Nervous System Fungal Infections def: "MYCOSES of the brain, spinal cord, and meninges which may result in ENCEPHALITIS; MENINGITIS, FUNGAL; MYELITIS; BRAIN ABSCESS; and EPIDURAL ABSCESS. Certain types of fungi may produce disease in immunologically normal hosts, while others are classified as opportunistic pathogens, causing illness primarily in immunocompromised individuals (e.g., ACQUIRED IMMUNODEFICIENCY SYNDROME)." [MESH:D020314] synonym: "Central Nervous System Mycoses" EXACT [] xref: MESH:D020314 xref: RDO:0007016 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:9000025 ! Central Nervous System Infections [Term] id: DOID:9001178 name: Carcinoma 256, Walker def: "A transplantable carcinoma of the rat that originally appeared spontaneously in the mammary gland of a pregnant albino rat, and which now resembles a carcinoma in young transplants and a sarcoma in older transplants. (Stedman, 25th ed)" [MESH:D002279] synonym: "Walker Carcinosarcoma 256" EXACT [] xref: MESH:D002279 is_a: DOID:4236 ! carcinosarcoma is_a: DOID:9002170 ! Experimental Neoplasms [Term] id: DOID:9001179 name: Isotretinoin Embryopathy Like Syndrome alt_id: MIM:243440 synonym: "Isotretinoin teratogen syndrome" EXACT [] synonym: "Microtia aortic arch syndrome" EXACT [] synonym: "Syndrome of microtia and aortic arch anomalies" EXACT [] xref: MESH:C535542 is_a: DOID:225 ! syndrome is_a: DOID:9001502 ! Congenital Microtia is_a: DOID:9007828 ! Abnormalities, Drug-Induced [Term] id: DOID:9001180 name: Duodenal Ulcer, Hyperpepsinogenemic I alt_id: MIM:126850 xref: MESH:C565086 is_a: DOID:1724 ! duodenal ulcer [Term] id: DOID:9001181 name: Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism synonym: "CHROMOSOME XQ28 DELETION SYNDROME" EXACT [] synonym: "CHROMOSOME Xq28 DELETION SYNDROME, 3.4-KB" EXACT [] synonym: "MYMY4" EXACT [] synonym: "syndromic Moyamoya disease" EXACT [] xref: MIM:300845 is_a: DOID:13099 ! Moyamoya disease is_a: DOID:1924 ! hypogonadism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001182 name: Junctional Epidermolysis Bullosa Inversa synonym: "Epidermolysis Bullosa Inversa Dystrophica" EXACT [] synonym: "JEB-I" EXACT [] synonym: "JEB inversa" EXACT [] xref: MESH:C535958 xref: MONDO:0019308 xref: ORDO:79405 is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:9001183 name: Bhaskar Jagannathan Syndrome xref: MESH:C535437 xref: RDO:0000547 is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9004866 ! Ataxia is_a: DOID:9005367 ! Arachnodactyly is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001184 name: Widow's Peak Syndrome alt_id: MIM:314570 synonym: "Widow's Peak, Ptosis, and Skeletal Anomalies" EXACT [] xref: MESH:C564040 is_a: DOID:0060260 ! ptosis is_a: DOID:225 ! syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9001185 name: Coloboma of Macula with Type B Brachydactyly alt_id: MIM:120400 synonym: "Apical dystrophy" EXACT [] synonym: "Coloboma of Macula - Type B Brachydactyly" EXACT [] synonym: "Sorsby syndrome" EXACT [] xref: MESH:C535969 is_a: DOID:0050581 ! brachydactyly is_a: DOID:12270 ! coloboma [Term] id: DOID:9001186 name: Retinitis Pigmentosa 93 def: "Characterized by mild to moderate rod-cone dystrophy with onset in the second or third decade of life. Caused by compound heterozygous mutation in the CC2D2A gene on chromosome 4p15." [MIM:619845] synonym: "RP93" EXACT [] xref: MIM:619845 is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2022-04-21T15:06:20Z [Term] id: DOID:9001187 name: Horse Diseases def: "Diseases of domestic and wild horses of the species Equus caballus." [MESH:D006734] synonym: "Equine Disease" EXACT [] synonym: "Equine Diseases" EXACT [] synonym: "Horse Disease" EXACT [] xref: MESH:D006734 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9001189 name: Drug Overdose def: "Accidental or deliberate use of a medication or street drug in excess of normal dosage." [MESH:D062787] synonym: "Drug Overdoses" EXACT [] synonym: "intentional overdose" NARROW [] xref: EFO:0020911 xref: EFO:0020924 xref: MESH:D062787 is_a: DOID:9974 ! drug dependence [Term] id: DOID:9001190 name: Macrodactyly of the Hand synonym: "Megalodactylism of the hand" EXACT [] synonym: "Megalodactyly of the hand" EXACT [] xref: MESH:C537720 xref: RDO:0003609 is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9001191 name: Cadmium Poisoning def: "Poisoning occurring after exposure to cadmium compounds or fumes. It may cause gastrointestinal syndromes, anemia, or pneumonitis." [MESH:D002105] synonym: "Cadmium Poisonings" EXACT [] synonym: "Itai Itai" EXACT [] xref: EFO:1001768 xref: MESH:D002105 xref: RDO:0005092 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9001192 name: Alpha-2-Deficient Collagen Disease alt_id: MIM:203760 synonym: "Meigel Disease" EXACT [] xref: MESH:C565963 is_a: DOID:630 ! genetic disease is_a: DOID:65 ! connective tissue disease [Term] id: DOID:9001193 name: Metaphyseal Anadysplasia synonym: "Early-onset regressive form of metaphyseal dysplasia" EXACT [] xref: MESH:C537351 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9001195 name: Teebi Kaurah Syndrome xref: MESH:C536948 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9001196 name: Nervous System Heredodegenerative Disorders def: "Inherited disorders characterized by progressive atrophy and dysfunction of anatomically or physiologically related neurologic systems." [MESH:D020271] synonym: "Degenerative Disease, Nervous System, Hereditary" EXACT [] synonym: "Degenerative Hereditary Disorders, Nervous System" EXACT [] synonym: "Hereditary Neurodegenerative Disease" EXACT [] synonym: "Hereditary Neurodegenerative Diseases" EXACT [] synonym: "INHERITED NEURODEGENERATIVE DISORDER" EXACT [] synonym: "Nervous System Degenerative Hereditary Diseases" EXACT [] xref: MESH:D020271 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:630 ! genetic disease [Term] id: DOID:9001197 name: Unilateral Deafness with Delayed Endolymphatic Hydrops alt_id: MIM:612097 xref: MESH:C567420 is_a: DOID:9001767 ! Unilateral Hearing Loss [Term] id: DOID:9001198 name: Hypophosphatemic Rickets, Autosomal Recessive, 2 alt_id: MIM:613312 synonym: "ARHR2" EXACT [] xref: MESH:C567647 is_a: DOID:0050949 ! autosomal recessive hypophosphatemic rickets [Term] id: DOID:9001199 name: Galloway-Mowat Syndrome 7 def: "Galloway-Mowat syndrome-7 (GAMOS7) is an autosomal recessive disorder characterized by developmental delay, microcephaly, and early-onset nephrotic syndrome. GAMOS7 is caused by homozygous or compound heterozygous mutation in the NUP107 gene on chromosome 12q15." [MIM:618348] synonym: "GAMOS7" EXACT [] xref: MIM:618348 is_a: DOID:0080694 ! Galloway-Mowat syndrome created_by: gthayman creation_date: 2019-03-12T12:03:52Z [Term] id: DOID:9001200 name: Xylosidase Deficiency alt_id: MIM:278900 xref: MESH:C564730 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9001201 name: Methemoglobinemia, Alpha-Globin Type alt_id: MIM:617973 synonym: "ERYTHREMIA, ALPHA-GLOBIN TYPE" EXACT [] synonym: "HEMOGLOBIN M (IWATE)" RELATED [] synonym: "HEMOGLOBIN M (KANKAKEE)" RELATED [] synonym: "HEMOGLOBIN M (OLDENBURG)" RELATED [] synonym: "HEMOGLOBIN M (SENDAI)" RELATED [] synonym: "methemoglobinemia, alpha type" EXACT [] xref: MESH:C564194 is_a: DOID:10783 ! methemoglobinemia [Term] id: DOID:9001202 name: Aryl Hydrocarbon Hydroxylase Inducibility synonym: "AHHI" EXACT [] synonym: "AHH Inducibility" EXACT [] xref: MESH:C566250 xref: MIM:108340 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9001203 name: Turnpenny-Fry Syndrome def: "Turnpenny-Fry syndrome (TPFS) is characterized by developmental delay, impaired intellectual development, impaired growth, and recognizable facial features that include frontal bossing, sparse hair, malar hypoplasia, small palpebral fissures and oral stoma, and dysplastic 'satyr' ears. Other common findings include feeding problems, constipation, and a range of brain, cardiac, vascular, and skeletal malformations. TPFS is caused by heterozygous mutation in the PCGF2 gene on chromosome 17q12." [MIM:618371] synonym: "NEUROCARDIOSKELETAL SYNDROME" EXACT [] synonym: "PCGF2-RELATED CONDITION" EXACT [] xref: MIM:618371 is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities created_by: gthayman creation_date: 2019-03-29T12:30:47Z [Term] id: DOID:9001204 name: Dyspepsia alt_id: DOID:2321 def: "Impaired digestion, especially after eating." [] synonym: "Dyspepsia, indigestion" EXACT [] synonym: "dyspepsias" EXACT [] synonym: "Indigestion" EXACT [] synonym: "indigestions" EXACT [] xref: EFO:0008533 xref: MESH:D004415 xref: NCI:C26756 is_a: DOID:1159 ! functional gastric disease is_a: DOID:9003977 ! Digestive Signs and Symptoms created_by: mtutaj creation_date: 2019-11-21T08:01:43Z [Term] id: DOID:9001205 name: Experimental Autoimmune Orchitis synonym: "autoimmune aspermatogenic orchitis" EXACT [] synonym: "EAO" EXACT [] is_a: DOID:2518 ! orchitis is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9001206 name: CoQ-Responsive OXPHOS Deficiency alt_id: MIM:608158 xref: MESH:C535470 is_a: DOID:14701 ! propionic acidemia is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9001207 name: Disseminated Hemangiomatosis xref: MESH:C566283 xref: RDO:0014679 is_a: DOID:255 ! hemangioma [Term] id: DOID:9001209 name: Cohen-Gibson Syndrome def: "An overgrowth disorder characterized by increased somatic parameters apparent from birth and associated with variable intellectual disability. Affected individuals have dysmorphic facial features, advanced bone age, and skeletal abnormalities, including flaring of the metaphyses of the long bones, large hands with long fingers and camptodactyly, and often scoliosis or cervical spine anomalies. (OMIM)" [] synonym: "COGIS" EXACT [] xref: MIM:617561 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: rgd creation_date: 2017-08-08T00:00:00Z [Term] id: DOID:9001210 name: Osteoarthritis with Mild Chondrodysplasia alt_id: MIM:604864 synonym: "NAMAQUALAND HIP DYSPLASIA" EXACT [] synonym: "NHD" EXACT [] synonym: "OSCDP" EXACT [] xref: MESH:C565740 xref: NCI:C202115 xref: RDO:0014298 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:8398 ! osteoarthritis [Term] id: DOID:9001211 name: cerebral venous thrombosis def: "This disease involves formation of a blood clot (thrombus) inside a cerebral vein, causing the obstruction of blood flow." [HP:0005305] synonym: "cerebral vein thrombosis" EXACT [] synonym: "CVT" EXACT [] synonym: "thrombosis of cerebral vein" EXACT [] is_a: DOID:4193 ! intracranial thrombosis is_a: DOID:9003871 ! Venous Thrombosis created_by: slaulede creation_date: 2023-09-26T13:03:09Z [Term] id: DOID:9001212 name: 46,XX Gonadal Dysgenesis Epibulbar Dermoid xref: MESH:C535316 xref: RDO:0000363 is_a: DOID:14450 ! 46 XX gonadal dysgenesis is_a: DOID:2658 ! dermoid cyst [Term] id: DOID:9001213 name: BLADDER DYSFUNCTION, AUTONOMIC, WITH IMPAIRED PUPILLARY REFLEX AND SECONDARY CAKUT def: "An autosomal recessive neurogenic disorder with onset in utero or early childhood. Affected individuals have impaired neuronal bladder and ureteral innervation causing coordination defects that result in secondary structural defects of the renal system, including hydronephrosis, vesicoureteral reflux (VUR), and small kidneys." [MIM:191800] synonym: "ACONTRACTILE DETRUSOR" EXACT [] synonym: "BAIPRCK" EXACT [] synonym: "CHRNA3-RELATED CONDITION" BROAD [] synonym: "URINARY BLADDER, ATONY OF" EXACT [] xref: MIM:191800 is_a: DOID:0080205 ! CAKUT is_a: DOID:11504 ! autonomic neuropathy is_a: DOID:11518 ! abnormal pupillary function is_a: DOID:12143 ! neurogenic bladder created_by: slaulede creation_date: 2020-02-11T10:28:54Z [Term] id: DOID:9001215 name: Sick Sinus Syndrome 3 synonym: "SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO" EXACT [] synonym: "SSS3" EXACT [] xref: MIM:614090 is_a: DOID:13884 ! sick sinus syndrome created_by: mtutaj creation_date: 2021-08-06T15:47:04Z [Term] id: DOID:9001216 name: Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B, with Neutropenia xref: MESH:C564704 is_a: DOID:0110197 ! Charcot-Marie-Tooth disease dominant intermediate B is_a: DOID:1227 ! neutropenia [Term] id: DOID:9001218 name: Apudoma def: "A general term collectively applied to tumors associated with the APUD CELLS series, irrespective of their specific identification." [MESH:D001079] synonym: "Apudomas" EXACT [] xref: MESH:D001079 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:657 ! adenoma [Term] id: DOID:9001219 name: respiratory toxicity def: "This is toxicity that impairs the respiratory system or damages its function. It is a poisonous effect of some substances, both toxic chemicals and medications." [EFO:0011060] synonym: "lung toxicity" EXACT [] xref: EFO:0011060 is_a: DOID:1579 ! respiratory system disease is_a: DOID:9004611 ! Pathologic Processes is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions created_by: slaulede creation_date: 2022-10-20T15:06:19Z [Term] id: DOID:9001220 name: X Chromosome, Trisomy Xpter Xq13 synonym: "Duplication Xpter Xq13" EXACT [] synonym: "Trisomy Xpter Xq13" EXACT [] xref: MESH:C536731 xref: RDO:0002397 is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9001221 name: Thrombocytopenia Paris-Trousseau Type alt_id: MIM:188025 synonym: "CHROMOSOME 11q23 DELETION SYNDROME" EXACT [] synonym: "TCPT" EXACT [] xref: MESH:C538617 xref: RDO:0004544 is_a: DOID:0111723 ! Jacobsen Syndrome [Term] id: DOID:9001222 name: Renal-Hepatic-Pancreatic Dysplasia 2 synonym: "RHPD2" EXACT [] xref: MIM:615415 is_a: DOID:0060259 ! renal-hepatic-pancreatic dysplasia [Term] id: DOID:9001223 name: Chromosome 10, Uniparental Disomy of synonym: "Mosaic trisomy 10" EXACT [] synonym: "Uniparental disomy of 10" EXACT [] xref: MESH:C538292 is_a: DOID:9003960 ! Trisomy is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9001224 name: Striae Distensae def: "Linear dermal scars accompanied by epidermal atrophy that affects skin that is subjected to continuous stretching. They usually do not cause any significant medical problems, only cosmetic problems." [MESH:D057896] synonym: "Stretch Mark" EXACT [] synonym: "Stretch Marks" EXACT [] xref: MESH:D057896 is_a: DOID:9007472 ! Skin Manifestations [Term] id: DOID:9001225 name: Sclerotylosis alt_id: RDO:0003383 def: "Huriez syndrome (HRZ) is characterized by the triad of congenital scleroatrophy of the distal extremities, palmoplantar keratoderma, and hypoplastic nail changes. The development of aggressive squamous cell carcinoma (SCC) in areas of affected skin is a distinctive feature of the syndrome, occurring in approximately 15% of patients. HRZ-associated SCC shows early onset, mostly in the third to fourth decades of life, and early metastasis formation. HRZ is caused by heterozygous mutation in the SMARCAD1 gene on chromosome 4q22. (OMIM)" [] synonym: "HRZ" EXACT [] synonym: "Huriez syndrome" EXACT [] synonym: "KERATODERMA WITH SCLEROATROPHY OF THE EXTREMITIES" EXACT [] synonym: "Scleroatrophic and keratotic dermatosis of limbs" EXACT [] synonym: "TYS" EXACT [] xref: MESH:C537526 xref: MIM:181600 is_a: DOID:161 ! keratosis is_a: DOID:8472 ! localized scleroderma is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9001227 name: Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related alt_id: RDO:0012638 synonym: "DOID:9001820" EXACT [] xref: MESH:C563358 is_a: DOID:1272 ! telangiectasis is_a: DOID:9001820 ! Pulmonary Arterial Hypertension [Term] id: DOID:9001228 name: Fungemia def: "The presence of fungi circulating in the blood. Opportunistic fungal sepsis is seen most often in immunosuppressed patients with severe neutropenia or in postoperative patients with intravenous catheters and usually follows prolonged antibiotic therapy." [MESH:D016469] synonym: "Fungemias" EXACT [] xref: MESH:D016469 xref: RDO:0006958 is_a: DOID:0050136 ! systemic mycosis is_a: DOID:9004484 ! Sepsis is_a: DOID:9006058 ! Invasive Fungal Infections [Term] id: DOID:9001229 name: Arthrogryposis Epileptic Seizures Migrational Brain Disorder synonym: "Arthrogryposis multiplex congenita with epileptic seizures and migrational brain disorder" EXACT [] xref: MESH:C537442 xref: RDO:0003285 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1826 ! epilepsy is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001230 name: Universal Melanosis xref: MESH:C563594 is_a: DOID:9001583 ! Melanosis [Term] id: DOID:9001231 name: Sessile Serrated Polyposis Cancer Syndrome def: "A rare disorder characterized by the presence of multiple serrated polyps in the colon and an increased personal and familial risk of colorectal cancer. (OMIM)" [] synonym: "RNF43-RELATED CONDITION" EXACT [] synonym: "SSPCS" EXACT [] xref: MIM:617108 xref: MONDO:0014919 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:225 ! syndrome created_by: rgd creation_date: 2016-10-18T00:00:00Z [Term] id: DOID:9001232 name: Pili Annulati alt_id: MIM:180600 synonym: "Ringed hair" EXACT [] xref: MESH:C537187 is_a: DOID:421 ! hair disease [Term] id: DOID:9001234 name: Prenatal Exposure Delayed Effects def: "The consequences of exposing the FETUS in utero to certain factors, such as NUTRITION PHYSIOLOGICAL PHENOMENA; PHYSIOLOGICAL STRESS; DRUGS; RADIATION; and other physical or chemical factors. These consequences are observed later in the offspring after BIRTH." [MESH:D011297] synonym: "Late Effects, Prenatal Exposure" EXACT [] xref: MESH:D011297 xref: RDO:0006410 is_a: DOID:9007023 ! Prenatal Injuries [Term] id: DOID:9001235 name: Pruritus Ani def: "Intense chronic itching in the anal area." [MESH:D011538] xref: MESH:D011538 is_a: DOID:3128 ! anus disease is_a: DOID:9006202 ! Pruritus [Term] id: DOID:9001236 name: Endarteritis def: "Inflammation of the inner endothelial lining (TUNICA INTIMA) of an artery." [MESH:D004692] synonym: "Endarteritides" EXACT [] xref: EFO:0009084 xref: MESH:D004692 xref: RDO:0005481 is_a: DOID:9002564 ! Arteritis [Term] id: DOID:9001237 name: Malignant Atrophic Papulosis alt_id: MIM:602248 def: "Variously described as a vasculopathy, endovasculitis, or occlusive arteriopathy, this condition occurs in a benign cutaneous form and a lethal multiorgan systemic variant. It is characterized by a narrowing and occlusion of the lumen of small to medium-sized blood vessels, leading to ischemia and infarction in the involved organ systems. The etiology and pathophysiology are unknown." [MESH:D054853] synonym: "Degos's Malignant Atrophic Papulosis" EXACT [] synonym: "Degos Disease" EXACT [] synonym: "Degos Syndrome" EXACT [] synonym: "Erythrokeratoderma en cocardes" EXACT [] synonym: "Kohlmeier-Degos Disease" EXACT [] synonym: "Malignant Atrophic Papuloses" EXACT [] xref: MESH:D054853 is_a: DOID:865 ! vasculitis is_a: DOID:9006474 ! Arterial Occlusive Diseases is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:9001238 name: Growth Hormone Excess xref: MESH:C531600 is_a: DOID:2449 ! acromegaly [Term] id: DOID:9001239 name: Delayed Puberty def: "The lack of development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations above the mean age at onset of PUBERTY in a population. Delayed puberty can be classified by defects in the hypothalamic LHRH pulse generator, the PITUITARY GLAND, or the GONADS. These patients will undergo spontaneous but delayed puberty whereas patients with SEXUAL INFANTILISM will not." [MESH:D011628] xref: MESH:D011628 is_a: DOID:2277 ! gonadal disease [Term] id: DOID:9001240 name: Peripheral Nerve Injuries def: "Injuries to the PERIPHERAL NERVES." [MESH:D059348] synonym: "Peripheral Nerve Injury" EXACT [] xref: EFO:0009510 xref: MESH:D059348 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9003740 ! Nerve Injuries is_a: DOID:9006062 ! Nervous System Trauma [Term] id: DOID:9001241 name: Bronchial Neoplasms def: "Tumors or cancer of the BRONCHI." [MESH:D001984] synonym: "bronchial neoplasm" EXACT [] synonym: "bronchial neoplasms" EXACT [] synonym: "bronchus neoplasm" EXACT [] synonym: "neoplasm of bronchus" EXACT [] xref: EFO:1000849 xref: MESH:D001984 is_a: DOID:1176 ! bronchial disease is_a: DOID:9005172 ! Lung Neoplasms created_by: mtutaj creation_date: 2020-04-21T09:15:38Z [Term] id: DOID:9001242 name: Alopecia, Hypogonadism, Extrapyramidal Disorder synonym: "Progressive extrapyramidal disorder with primary hypogonadism and alopecia" EXACT [] xref: MESH:C537053 is_a: DOID:1924 ! hypogonadism is_a: DOID:679 ! basal ganglia disease is_a: DOID:987 ! alopecia [Term] id: DOID:9001243 name: Pulmonary Arteriovenous Fistulas alt_id: MIM:265140 xref: MESH:C562404 is_a: DOID:9005605 ! Arteriovenous Fistula [Term] id: DOID:9001244 name: Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 1 def: "An autosomal recessive disorder of skeletal muscle characterized by the onset of muscle cramping and stiffness on exertion in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the MLIP gene on chromosome 6p12." [MIM:620138] synonym: "MMCKR" EXACT [] synonym: "MMCKR1" EXACT [] synonym: "Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis" EXACT [] xref: MIM:620138 xref: MONDO:0859322 is_a: DOID:423 ! myopathy is_a: DOID:9003760 ! Myalgia created_by: mtutaj creation_date: 2022-12-05T08:37:33Z [Term] id: DOID:9001245 name: Junctional Epidermolysis Bullosa 2A, Intermediate synonym: "intermediate junctional epidermolysis bullosa 2A" EXACT [] synonym: "JEB2A" EXACT [] synonym: "Junctional Epidermolysis Bullosa 2A, Generalized Intermediate" EXACT [] synonym: "Junctional Epidermolysis Bullosa 2A, Non-Herlitz Type" EXACT [] xref: MIM:619783 is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type created_by: mtutaj creation_date: 2022-06-07T11:38:49Z [Term] id: DOID:9001246 name: Non-Filarial Lymphedema def: "A form of elephantiasis caused by soil particles which penetrate the skin of the foot. It is limited to tropical regions with soils of high volcanic content." [MESH:D062846] synonym: "Non-Filarial Lymphedemas" EXACT [] xref: MESH:D062846 xref: RDO:0012110 is_a: DOID:4977 ! lymphedema [Term] id: DOID:9001247 name: Galloway-Mowat Syndrome 9 def: "An autosomal recessive disorder characterized by onset of nephrotic syndrome with proteinuria in infancy or early childhood. Caused by homozygous mutation in the GON7 gene on chromosome 14q32." [MIM:619603] synonym: "GAMOS9" EXACT [] xref: MIM:619603 is_a: DOID:0080694 ! Galloway-Mowat syndrome created_by: mtutaj creation_date: 2021-11-10T13:43:35Z [Term] id: DOID:9001248 name: Epidermolysis Bullosa Simplex 3, Localized or Generalized Intermediate, with BP230 Deficiency synonym: "EBS3" EXACT [] synonym: "EBSB2" RELATED [] synonym: "epidermolysis bullosa simplex, autosomal recessive 2" RELATED [] xref: MIM:615425 is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:9001249 name: Bernard-Soulier Syndrome Type A1 synonym: "Bernard-Soulier syndrome type A" EXACT [] xref: MESH:C565548 is_a: DOID:2217 ! Bernard-Soulier syndrome [Term] id: DOID:9001250 name: Transient Neonatal Diabetes Mellitus, 3 alt_id: MIM:610582 synonym: "TNDM3" EXACT [] xref: MESH:C566432 is_a: DOID:0060334 ! transient neonatal diabetes mellitus [Term] id: DOID:9001251 name: Microspherophakia xref: MESH:C563255 is_a: DOID:10124 ! corneal disease is_a: DOID:1686 ! glaucoma is_a: DOID:9004201 ! Ectopia Lentis [Term] id: DOID:9001253 name: Glutaric Aciduria 2 synonym: "Glutaric acidemia 2 A" EXACT [] synonym: "GLUTARIC ACIDEMIA TYPE 2A" EXACT [] xref: MESH:C536834 is_a: DOID:0060358 ! multiple acyl-CoA dehydrogenase deficiency is_a: DOID:9009132 ! Glutaric Aciduria [Term] id: DOID:9001254 name: Epidermolysis Bullosa Simplex 5D with Nail Dystrophy synonym: "autosomal recessive generalized intermediate epidermolysis bullosa simplex 5D" EXACT [] synonym: "EBS5D" EXACT [] synonym: "EBSND" EXACT [] synonym: "epidermolysis bullosa simplex with nail dystrophy" EXACT [] xref: MIM:616487 is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type is_a: DOID:4123 ! nail disease [Term] id: DOID:9001255 name: Kabuki Syndrome 1 synonym: "KABUK1" EXACT [] synonym: "KMT2D-RELATED CONDITION" BROAD [] synonym: "KMT2D-RELATED DISORDERS" BROAD [] xref: MIM:147920 is_a: DOID:0060473 ! Kabuki syndrome created_by: mtutaj creation_date: 2019-12-19T15:17:15Z [Term] id: DOID:9001256 name: Nabais Sa-de Vries Syndrome, Type 1 synonym: "NEDMIDF" EXACT [] synonym: "neurodevelopmental disorder with microcephaly and dysmorphic facies" EXACT [] synonym: "NSDVS1" EXACT [] xref: MIM:618828 is_a: DOID:10907 ! microcephaly is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2020-05-15T14:42:29Z [Term] id: DOID:9001259 name: Blepharophimosis with Ptosis, Syndactyly, and Short Stature alt_id: MIM:210745 xref: MESH:C536235 is_a: DOID:10348 ! blepharophimosis is_a: DOID:11193 ! syndactyly is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001260 name: CHITAYAT SYNDROME def: "A rare condition characterized by respiratory distress presenting at birth, bilateral accessory phalanx resulting in shortened index fingers with ulnar deviation, hallux valgus, and characteristic facial features including prominent eyes, hypertelorism, depressed nasal bridge, full lips, and upturned nose. (OMIM)" [] synonym: "CHYTS" EXACT [] xref: MIM:617180 is_a: DOID:1148 ! polydactyly is_a: DOID:12716 ! newborn respiratory distress syndrome is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008589 ! Hallux Valgus is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9008965 ! Bronchomalacia [Term] id: DOID:9001261 name: Ileal Diseases def: "Pathological development in the ILEUM including the ILEOCECAL VALVE." [MESH:D007077] synonym: "Ileal Disease" EXACT [] xref: MESH:D007077 xref: RDO:0005874 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9001262 name: Deletion 13q Syndrome, Partial synonym: "13q- syndrome, partial" EXACT [] synonym: "Chromosome 13, partial monosomy 13q" EXACT [] synonym: "Monosomy 13q, partial" EXACT [] synonym: "Partial monosomy of the long arm of chromosome 13" EXACT [] xref: MESH:C535449 xref: RDO:0000569 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9001263 name: Mitochondrial DNA Depletion Syndrome, MNGIE Type synonym: "MEPOP" EXACT [] synonym: "mitochondrial neurogastrointestinal encephalopathy" EXACT [] synonym: "MNGIE" EXACT [] synonym: "MNGIE phenotype" EXACT [] synonym: "MNGIE syndrome" EXACT [] synonym: "myoneurogastrointestinal encephalopathy syndrome" EXACT [] synonym: "POLIP" EXACT [] synonym: "POLIP syndrome" EXACT [] synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction" EXACT [] is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome created_by: mtutaj creation_date: 2019-12-19T13:34:59Z [Term] id: DOID:9001264 name: Respiratory Aspiration def: "Inhaling liquid or solids, such as stomach contents, into the RESPIRATORY TRACT. When this causes severe lung damage, it is called ASPIRATION PNEUMONIA." [MESH:D053120] xref: EFO:1001839 xref: MESH:D053120 xref: RDO:0007607 is_a: DOID:9004611 ! Pathologic Processes is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9001265 name: Aneurysm of Interventricular Septum alt_id: MIM:105805 synonym: "interventricular septum aneurysm" EXACT [] xref: MESH:C563239 xref: MONDO:0007112 xref: ORDO:99092 is_a: DOID:1657 ! ventricular septal defect [Term] id: DOID:9001266 name: Benign Non-Infected Urachal Cyst synonym: "Giant urachal cyst" EXACT [] synonym: "Infected urachal cyst" EXACT [] synonym: "Inflamed urachal cyst" EXACT [] xref: MESH:C531841 is_a: DOID:9008957 ! Urachal Cyst [Term] id: DOID:9001267 name: Junctional Epidermolysis Bullosa 3A, Intermediate synonym: "intermediate junctional epidermolysis bullosa 3A" EXACT [] synonym: "JEB3A" EXACT [] synonym: "Junctional Epidermolysis Bullosa 3A, Generalized Intermediate" EXACT [] synonym: "Junctional Epidermolysis Bullosa 3A, Non-Herlitz Type" EXACT [] xref: MIM:619785 is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type created_by: mtutaj creation_date: 2022-06-07T11:10:08Z [Term] id: DOID:9001268 name: Embolism and Thrombosis def: "A collective term for pathological conditions which are caused by the formation of a blood clot (THROMBUS) in a blood vessel, or by blocking of a blood vessel with an EMBOLUS, undissolved materials in the blood stream." [MESH:D016769] xref: MESH:D016769 is_a: DOID:178 ! vascular disease [Term] id: DOID:9001269 name: Double Inguinal Hernia alt_id: MIM:142350 xref: MESH:C563164 is_a: DOID:0060320 ! inguinal hernia [Term] id: DOID:9001270 name: Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet alt_id: MIM:129540 xref: MESH:C565067 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9005329 ! Preaxial Polydactyly is_a: DOID:987 ! alopecia [Term] id: DOID:9001271 name: Intestinal Pseudoobstruction with Patent Ductus Arteriosus and Natal Teeth alt_id: MIM:243185 synonym: "Natal teeth, intestinal pseudoobstruction and patent ductus" EXACT [] xref: MESH:C538341 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:13832 ! patent ductus arteriosus [Term] id: DOID:9001272 name: Hoyeraal Hreidarsson Syndrome alt_id: RDO:0001490 synonym: "cerebellar hypoplasia with pancytopenia" EXACT [] synonym: "HHS" EXACT [] synonym: "prenatal growth retardation with progressive pancytopenia and cerebellar hypoplasia" EXACT [] xref: MESH:C536068 is_a: DOID:0070025 ! X-linked dyskeratosis congenita is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9001273 name: Efavirenz, Poor Metabolism of alt_id: RDO:0016153 synonym: "Efavirenz central nervous system toxicity, susceptibility to" EXACT [] xref: MIM:614546 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions [Term] id: DOID:9001274 name: Diabetes Mellitus, Congenital Autoimmune alt_id: MIM:605026 xref: MESH:C565730 is_a: DOID:417 ! autoimmune disease is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9001275 name: Familial Atrial Fibrillation 7 alt_id: MIM:612240 synonym: "ALTERED POTASSIUM CHANNEL FUNCTION" RELATED [] synonym: "ATFB7" EXACT [] synonym: "Atrial fibrillation, familial, 7" EXACT [] synonym: "KCNA5-RELATED CONDITION" EXACT [] xref: MESH:C567389 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9001276 name: Failure to Thrive def: "A condition of substandard growth or diminished capacity to maintain normal function." [MESH:D005183] xref: MESH:D005183 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9001277 name: Ehlers-Danlos Syndrome VI Phenotype with Macrocephaly xref: MESH:C565563 is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9001278 name: Hashimoto-Pritzker Syndrome synonym: "Hashimoto-Pritzker disease" EXACT [] synonym: "Hashimoto-Pritzker histiocytosis" EXACT [] xref: MESH:C535843 is_a: DOID:225 ! syndrome is_a: DOID:2571 ! Langerhans-cell histiocytosis [Term] id: DOID:9001280 name: 47, XYY Syndrome synonym: "Jacob's syndrome" EXACT [] synonym: "XYY syndrome" EXACT [] synonym: "YY syndrome" EXACT [] xref: MESH:C535317 xref: NCI:C85237 is_a: DOID:225 ! syndrome is_a: DOID:9000426 ! XYY Karyotype is_a: DOID:9004151 ! Sex Chromosome Disorders [Term] id: DOID:9001281 name: Crush Injuries def: "Excessive compression of parts of the body that causes muscle swelling, fracture, and/or neurological disturbances in the affected areas. Crush injury with systemic manifestations is referred to as CRUSH SYNDROME." [MESH:D000071576] synonym: "Crush Fracture" EXACT [] synonym: "Crush Fractures" EXACT [] synonym: "Crush Injury" EXACT [] xref: EFO:0009504 xref: MESH:D000071576 xref: RDO:0016109 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001282 name: Cerebral Cavernous Malformation 4 def: "Cerebral cavernous malformations caused by somatic mutation in the PIK3CA gene on chromosome 3q26. (OMIM)" [] synonym: "CCM4" EXACT [] synonym: "cerebral cavernous malformations 4" EXACT [] xref: MIM:619538 is_a: DOID:9001136 ! Familial Cerebral Cavernous Malformation created_by: mtutaj creation_date: 2021-10-15T14:16:31Z [Term] id: DOID:9001283 name: RETINAL DYSTROPHY AND IRIS COLOBOMA WITH OR WITHOUT CONGENITAL CATARACT synonym: "RDICC" EXACT [] xref: MIM:616722 xref: RDO:9000402 is_a: DOID:12270 ! coloboma is_a: DOID:83 ! cataract is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:9001284 name: Monkey Diseases def: "Diseases of Old World and New World monkeys. This term includes diseases of baboons but not of chimpanzees or gorillas (= APE DISEASES)." [MESH:D008992] synonym: "Monkey Disease" EXACT [] xref: MESH:D008992 is_a: DOID:9001374 ! Primate Diseases [Term] id: DOID:9001285 name: Alcoholic Liver Diseases def: "Liver diseases associated with ALCOHOLISM. It usually refers to the coexistence of two or more subentities, i.e., ALCOHOLIC FATTY LIVER; ALCOHOLIC HEPATITIS; and ALCOHOLIC CIRRHOSIS." [MESH:D008108] synonym: "alcoholic liver disease" EXACT [] xref: EFO:0008573 xref: MESH:D008108 is_a: DOID:409 ! liver disease is_a: DOID:9004354 ! Alcohol-Related Disorders [Term] id: DOID:9001286 name: Congenital Contractures, Torticollis, and Malignant Hyperthermia alt_id: MIM:217150 xref: MESH:C565679 is_a: DOID:0050840 ! cervical dystonia is_a: DOID:8545 ! malignant hyperthermia is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9006836 ! Contracture [Term] id: DOID:9001287 name: Ehlers-Danlos Syndrome Type 4 synonym: "EDS4" EXACT [] synonym: "EDS IV" EXACT [] synonym: "Ehlers-Danlos syndrome, Type 4 Variant" EXACT [] synonym: "Ehlers Danlos Syndrome, Type IV" EXACT [] is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:9001288 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES alt_id: DOID:9000697 def: "This disease is characterized by global developmental delay and hypotonia apparent from birth." [MIM:619503] synonym: "GNB2-RELATED CONDITION" BROAD [] synonym: "NEDHYDF" EXACT [] xref: MIM:619503 xref: MONDO:0859185 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2021-10-21T13:24:55Z [Term] id: DOID:9001289 name: Trehalase Deficiency alt_id: MIM:612119 synonym: "ALPHA, ALPHA-TREHALASE DEFICIENCY" EXACT [] synonym: "Trehalose Intolerance" EXACT [] xref: MESH:C562603 xref: RDO:0012247 is_a: DOID:13250 ! diarrhea is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9001290 name: Prolactin Deficiency with Obesity and Enlarged Testes alt_id: MIM:264120 xref: MESH:C564870 is_a: DOID:9406 ! hypopituitarism is_a: DOID:9970 ! obesity [Term] id: DOID:9001291 name: Cranial Epidural Hematoma def: "Accumulation of blood in the EPIDURAL SPACE between the SKULL and the DURA MATER, often as a result of bleeding from the MENINGEAL ARTERIES associated with a temporal or parietal bone fracture. Epidural hematoma tends to expand rapidly, compressing the dura and underlying brain. Clinical features may include HEADACHE; VOMITING; HEMIPARESIS; and impaired mental function." [MESH:D006407] synonym: "Cranial Epidural Hematomas" EXACT [] synonym: "Cranial Epidural Hemorrhage" EXACT [] synonym: "Cranial Epidural Hemorrhages" EXACT [] synonym: "Cranial Extradural Hematoma" EXACT [] synonym: "Cranial Extradural Hematomas" EXACT [] synonym: "Cranial Extradural Hemorrhage" EXACT [] synonym: "Cranial Extradural Hemorrhages" EXACT [] synonym: "Intracranial Epidural Hematoma" EXACT [] synonym: "Intracranial Epidural Hematomas" EXACT [] xref: MESH:D006407 is_a: DOID:9003104 ! Intracranial Hemorrhages is_a: DOID:9006013 ! Hematoma is_a: DOID:9008598 ! Traumatic Intracranial Hemorrhage [Term] id: DOID:9001292 name: Odontohypophosphatasia synonym: "low alkaline phosphatase" RELATED [] xref: MESH:C564146 is_a: DOID:14213 ! hypophosphatasia is_a: DOID:9004003 ! Tooth Demineralization [Term] id: DOID:9001294 name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND SKELETAL AND BRAIN ABNORMALITIES def: "This disease is a multisystemic developmental disorder characterized by feeding difficulties, poor overall growth, and global developmental delay with moderate to severely impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facial features and skeletal defects, mainly affecting the distal extremities." [MIM:620073] synonym: "NEDDFSB" EXACT [] xref: MIM:620073 is_a: DOID:0080001 ! bone disease is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:936 ! brain disease created_by: slaulede creation_date: 2022-12-13T12:11:58Z [Term] id: DOID:9001295 name: Achlorhydria def: "A lack of HYDROCHLORIC ACID in GASTRIC JUICE despite stimulation of gastric secretion." [MESH:D000126] synonym: "Achylia Gastrica" EXACT [] synonym: "Hypochlorhydria" EXACT [] xref: MESH:D000126 is_a: DOID:76 ! stomach disease is_a: DOID:9006795 ! Acid-Base Imbalance [Term] id: DOID:9001296 name: Ear Neoplasms alt_id: RDO:0005423 def: "Tumors or cancer of any part of the hearing and equilibrium system of the body (the EXTERNAL EAR, the MIDDLE EAR, and the INNER EAR)." [MESH:D004428] synonym: "Auricular Neoplasms" EXACT [] synonym: "Cancer of Ear" EXACT [] synonym: "Cancer of Ear Auricle" EXACT [] synonym: "Cancer of the Ear" EXACT [] synonym: "Ear Auricle Cancer" EXACT [] synonym: "Ear Auricle Cancers" EXACT [] synonym: "Ear Auricle Neoplasm" EXACT [] synonym: "Ear Auricle Neoplasms" EXACT [] synonym: "Ear Cancer" EXACT [] synonym: "Ear Neoplasm" EXACT [] synonym: "Neoplasms of Ear Auricle" EXACT [] xref: MESH:D004428 is_a: DOID:2742 ! auditory system disease is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms [Term] id: DOID:9001297 name: 46,Xx Gonadal Dysgenesis, Partial Or Complete, Autosomal synonym: "Xx Male Syndrome, Sry-Negative" EXACT [] xref: MESH:C567597 is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:9001298 name: pneumococcal bacteremia def: "This disease is caused by the presence of pneumococcus bacteria in the blood." [EFO:1001925] xref: EFO:1001925 is_a: DOID:9000989 ! Pneumococcal Infections is_a: DOID:9005036 ! Bacteremia created_by: slaulede creation_date: 2022-10-06T13:41:27Z [Term] id: DOID:9001299 name: Retained Placenta def: "A placenta that fails to be expelled after BIRTH of the FETUS. A PLACENTA is retained when the UTERUS fails to contract after the delivery of its content, or when the placenta is abnormally attached to the MYOMETRIUM." [MESH:D018457] synonym: "Retained Placentas" EXACT [] xref: MESH:D018457 is_a: DOID:780 ! placenta disease [Term] id: DOID:9001300 name: Alternating Hemiplegia of Childhood 2 def: "Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi- or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment. Alternating hemiplegia of childhood-2 (AHC2) is caused by heterozygous mutation in the ATP1A3 gene on chromosome 19q13. (OMIM)" [] synonym: "AHC2" EXACT [] xref: MIM:614820 is_a: DOID:0050635 ! alternating hemiplegia of childhood [Term] id: DOID:9001301 name: Ketoadipicaciduria xref: MESH:C565453 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:9000197 ! Edema is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9001302 name: Myokymia 1 xref: MESH:C567174 xref: RDO:0015321 is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9001303 name: Hydroa Vacciniforme, Familial alt_id: MIM:603794 xref: MESH:C536077 is_a: DOID:9001317 ! Hydroa Vacciniforme [Term] id: DOID:9001304 name: Immunodeficiency 85 def: "An autosomal dominant immunologic disorder characterized by onset of atopic eczema and recurrent respiratory infections in the first decade of life. Caused by heterozygous mutation in the TOM1 gene on chromosome 22q12. (OMIM)" [] synonym: "IMD85" EXACT [] synonym: "immunodeficiency 85 and autoimmunity" EXACT [] xref: MIM:619510 is_a: DOID:417 ! autoimmune disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-09-03T12:03:10Z [Term] id: DOID:9001305 name: Neuroblastoma 2 synonym: "NBLST2" EXACT [] synonym: "neuroblastoma, susceptibility to, 2" RELATED [] synonym: "neuroblastoma with Hirschsprung disease" NARROW [] xref: MIM:613013 is_a: DOID:769 ! neuroblastoma created_by: mtutaj creation_date: 2019-10-11T11:29:38Z [Term] id: DOID:9001306 name: Gillessen-Kaesbach-Nishimura Dysplasia alt_id: MIM:263210 alt_id: RDO:0013697 alt_id: RDO:9000745 synonym: "autosomal recessive polycystic kidney disease, with microbrachycephaly, hypertelorism, and brachymelia" EXACT [] synonym: "GIKANIS" EXACT [] synonym: "Gillessen-Kaesbach-Nishimura skeletal dysplasia" EXACT [] synonym: "Gillessen-Kaesbach-Nishimura syndrome" EXACT [] synonym: "polycystic kidney disease, Potter type I, with microbrachycephaly, hypertelorism, and brachymelia" EXACT [] xref: MESH:C564881 is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease is_a: DOID:2340 ! craniosynostosis is_a: DOID:5212 ! congenital disorder of glycosylation is_a: DOID:9000545 ! Ectromelia is_a: DOID:9003133 ! Hypertelorism created_by: rgd creation_date: 2015-06-18T00:00:00Z [Term] id: DOID:9001307 name: Karandikar Maria Kamble Syndrome synonym: "Cataract mental retardation anal atresia urinary defects" EXACT [] synonym: "Congenital cataract with multiple congenital anomalies in a sibship" EXACT [] xref: MESH:C537009 is_a: DOID:10488 ! imperforate anus is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract [Term] id: DOID:9001308 name: Wittwer Syndrome synonym: "X-linked mental retardation syndrome, Wittwer type" EXACT [] synonym: "X-Linked Mental Retardation Type Wittwer" EXACT [] xref: MESH:C536737 xref: MESH:C536760 is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9005165 ! Deaf-Blind Disorders is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001309 name: Ichthyosis Prematurity Syndrome alt_id: MIM:608649 alt_id: OMIA:001973 synonym: "Ichthyosis congenita IV" EXACT [] synonym: "Ichthyosis, SLC27A4-related" EXACT [] synonym: "IPS" EXACT [] xref: MESH:C536271 xref: RDO:0001786 is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9004676 ! Premature Infant Diseases [Term] id: DOID:9001311 name: Lichen Planus Follicularis synonym: "Follicular lichen planus tumidus" EXACT [] synonym: "Lichen planus follicularis tumidus" EXACT [] xref: EFO:0009856 xref: MESH:C535892 xref: RDO:0001255 is_a: DOID:9201 ! lichen planus [Term] id: DOID:9001312 name: Tardive Dyskinesia alt_id: MIM:272620 def: "Drug-related movement disorder characterized by uncontrollable movements in certain muscles. It is associated with a long-term exposure to certain neuroleptic medications (e.g., METOCLOPRAMIDE)." [MESH:D000071057] synonym: "Tardive Dyskinesias" EXACT [] synonym: "Tardive Dystonia" EXACT [] synonym: "Tardive Dystonias" EXACT [] xref: MESH:D000071057 is_a: DOID:9008394 ! Drug-Induced Dyskinesia [Term] id: DOID:9001313 name: Gm2-Gangliosidosis, Adult Chronic Type synonym: "Gm2-Gangliosidosis, Adult" RELATED [] synonym: "Gm2-Gangliosidosis, Adult-Onset" RELATED [] xref: MESH:C564784 is_a: DOID:3320 ! Tay-Sachs disease [Term] id: DOID:9001314 name: Systemic Lupus Erythematosus 17 def: "An X-linked dominant autoimmune disorder characterized by onset of systemic autoinflammatory symptoms in the first decades of life. Caused by heterozygous mutation in the TLR7 gene on chromosome Xp22." [MIM:301080] synonym: "SLEB17" EXACT [] xref: MIM:301080 xref: MONDO:0859083 is_a: DOID:9074 ! systemic lupus erythematosus created_by: mtutaj creation_date: 2022-05-11T16:39:54Z [Term] id: DOID:9001315 name: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY def: "This disease is characterized by hearing loss, global developmental delay/impaired intellectual development, spastic-dystonic cerebral palsy, focal or generalized epilepsy, and microcephaly." [MIM:619616] synonym: "NEDHLS" EXACT [] synonym: "SPATA5L1-ASSOCIATED DISORDER" BROAD [] xref: MIM:619616 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2022-02-10T17:53:34Z [Term] id: DOID:9001316 name: Bernard-Soulier Syndrome, Type C xref: MESH:C565550 is_a: DOID:2217 ! Bernard-Soulier syndrome [Term] id: DOID:9001317 name: Hydroa Vacciniforme def: "A vesicular and bullous eruption having a tendency to recur in summer during childhood and commonly appearing on sun-exposed skin. The lesions are surrounded by an erythematous zone and resemble a vaccination. (From Dorland, 27th ed)" [MESH:D006837] xref: MESH:D006837 xref: RDO:0001503 is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:3159 ! photosensitivity disease [Term] id: DOID:9001318 name: Nasal Alar Collapse, Bilateral alt_id: MIM:161470 xref: MESH:C563533 is_a: DOID:2825 ! nose disease [Term] id: DOID:9001319 name: Branchial Arch Syndrome X-Linked alt_id: MIM:301950 synonym: "Mandibulofacial Dysostosis, Toriello Type" EXACT [] xref: MESH:C537102 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10907 ! microcephaly is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:9001320 name: Corneal Dystrophy, Fuchs Endothelial, 7 alt_id: MIM:613271 synonym: "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET" EXACT [] synonym: "FCD4 LOCUS" EXACT [] synonym: "FECD7" EXACT [] xref: MESH:C567674 is_a: DOID:11555 ! Fuchs' endothelial dystrophy [Term] id: DOID:9001321 name: Der Kaloustian Mcintosh Silver Syndrome xref: MESH:C538217 xref: RDO:0004164 is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9001322 name: Sclerocornea, Autosomal Dominant alt_id: MIM:181700 alt_id: RDO:0014977 xref: MESH:C566692 is_a: DOID:0060252 ! sclerocornea [Term] id: DOID:9001323 name: Arrhenoblastoma--Thyroid Adenoma xref: MESH:C566256 xref: RDO:0011978 is_a: DOID:13197 ! nodular goiter is_a: DOID:2997 ! Sertoli-Leydig cell tumor [Term] id: DOID:9001324 name: Powell Venencie Gordon syndrome synonym: "Keratoderma and spastic paralysis" EXACT [] synonym: "Punctate keratoderma and spastic paralysis" EXACT [] xref: MESH:C538358 is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:9001325 name: Rett Syndrome, Atypical xref: MESH:C567576 is_a: DOID:1206 ! Rett syndrome [Term] id: DOID:9001326 name: Nevus, Epithelioid and Spindle Cell def: "A benign compound nevus occurring most often in children before puberty, composed of spindle and epithelioid cells located mainly in the dermis, sometimes in association with large atypical cells and multinucleate cells, and having a close histopathological resemblance to malignant melanoma. The tumor presents as a smooth to slightly scaly, round to oval, raised, firm papule or nodule, ranging in color from pink-tan to purplish red, often with surface telangiectasia. (Dorland, 27th ed)" [MESH:D018332] synonym: "Spitz Nevus" EXACT [] xref: EFO:1000925 xref: MESH:D018332 is_a: DOID:9007860 ! Spindle Cell Nevus [Term] id: DOID:9001328 name: Familial Gigantiform Cementoma alt_id: MIM:137575 synonym: "familial multiple cementomas" EXACT [] synonym: "periapical cemental dysplasia" EXACT [] xref: MESH:C563017 is_a: DOID:9004594 ! Jaw Neoplasms is_a: DOID:9004740 ! Cementoma [Term] id: DOID:9001329 name: Tumor Predisposition Syndrome synonym: "TPDS" EXACT [] is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:225 ! syndrome is_a: DOID:9000397 ! Genetic Predisposition to Disease created_by: mtutaj creation_date: 2022-08-08T10:59:09Z [Term] id: DOID:9001330 name: Urinary Incontinence, Stress def: "Involuntary discharge of URINE as a result of physical activities that increase abdominal pressure on the URINARY BLADDER without detrusor contraction or overdistended bladder. The subtypes are classified by the degree of leakage, descent and opening of the bladder neck and URETHRA without bladder contraction, and sphincter deficiency." [MESH:D014550] xref: MESH:D014550 xref: RDO:0006792 is_a: DOID:9006880 ! Urinary Incontinence [Term] id: DOID:9001331 name: Skull Neoplasms def: "Neoplasms of the bony part of the skull." [] synonym: "Skull Neoplasm" EXACT [] xref: MESH:D012888 is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:9001332 name: Earache def: "Pain in the ear." [MESH:D004433] synonym: "Earaches" EXACT [] synonym: "Otalgia" EXACT [] synonym: "Otalgias" EXACT [] xref: MESH:D004433 is_a: DOID:2742 ! auditory system disease is_a: DOID:9000641 ! Pain [Term] id: DOID:9001333 name: Hypokalemic Periodic Paralysis, Type 2 alt_id: MIM:613345 synonym: "HOKPP2" EXACT [] xref: MESH:C567635 is_a: DOID:14452 ! hypokalemic periodic paralysis [Term] id: DOID:9001334 name: Huntington's Disease-Like 3 alt_id: MIM:604802 synonym: "HDL3" EXACT [] synonym: "Huntington Disease-Like 3" EXACT [] synonym: "Huntington Disease-Like Neurodegenerative Disorder, Autosomal Recessive" EXACT [] xref: MESH:C565747 xref: RDO:0014303 is_a: DOID:12858 ! Huntington's disease [Term] id: DOID:9001335 name: Chromosome 17, Trisomy 17p synonym: "Duplication 17p" EXACT [] synonym: "Trisomy 17p" EXACT [] xref: MESH:C538048 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9001337 name: Childhood-Onset Spasticity with Hyperglycinemia def: "An autosomal recessive disorder characterized by 'variant' nonketotic hyperglycinemia and onset of slowly progressive spasticity that results in impaired gait in the first decade of life. (OMIM)" [] synonym: "SPAHGC" EXACT [] xref: MIM:616859 is_a: DOID:4195 ! hyperglycemia is_a: DOID:9007428 ! Muscle Spasticity created_by: rgd creation_date: 2016-04-14T00:00:00Z [Term] id: DOID:9001338 name: Vulvodynia def: "Complex pain syndrome with unknown etiology, characterized by constant or intermittent generalized vulva pain (Generalized vulvodynia) or localized burning sensations in the VESTIBULE area when pressure is applied (Vestibulodynia, or Vulvar Vestibulitis Syndrome). Typically, vulvar tissue with vulvodynia appears normal without infection or skin disease. Vulvodynia impacts negatively on a woman's quality of life as it interferes with sexual and daily activities." [MESH:D056650] synonym: "Generalized Vulvodynia" EXACT [] synonym: "generalized vulvodynias" EXACT [] synonym: "Vestibulodynia" EXACT [] synonym: "Vestibulodynias" EXACT [] synonym: "vulvodynias" EXACT [] xref: MESH:D056650 is_a: DOID:2059 ! vulvar disease [Term] id: DOID:9001340 name: Mesomelia-Synostoses Syndrome alt_id: MIM:600383 synonym: "CHROMOSOME 8q13 DELETION SYNDROME" EXACT [] synonym: "Mesomelia synostoses" EXACT [] synonym: "MESOMELIC DYSPLASIA, SYNDROMIC" EXACT [] synonym: "MESOMELIC DYSPLASIA WITH ACRAL SYNOSTOSES, VERLOES-DAVID-PFEIFFER TYPE" EXACT [] synonym: "Verloes-David syndrome" EXACT [] xref: MESH:C537348 xref: RDO:0003178 is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001341 name: Chloracne def: "ACNE-like skin eruptions caused by exposure to CHLORINE-containing compounds. Exposure can be by inhalation, ingestion, or through the skin. Chloracne is often seen in people who have occupational contact with chlorinated pesticides, wood preservatives, and sealants." [MESH:D054506] synonym: "Chloracnes" EXACT [] synonym: "Chlorine Acne" EXACT [] synonym: "Chlorine Acnes" EXACT [] xref: EFO:1001777 xref: MESH:D054506 is_a: DOID:9001519 ! Acneiform Eruptions [Term] id: DOID:9001343 name: Infantile Hypotonia with Psychomotor Retardation synonym: "IHPMR" EXACT [] xref: MIM:616816 is_a: DOID:1059 ! intellectual disability is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9001344 name: Pigmented Purpuric Eruption alt_id: MIM:172900 synonym: "Familial pigmented purpuric eruption" EXACT [] synonym: "Familial Schamberg's disease" EXACT [] synonym: "Schamberg purpura" EXACT [] xref: MESH:C537186 is_a: DOID:10123 ! pigmentation disease is_a: DOID:3326 ! purpura [Term] id: DOID:9001345 name: Okur-Chung Neurodevelopmental Syndrome def: "An autosomal dominant disorder characterized by delayed psychomotor development, intellectual disability with poor speech, behavioral abnormalities, cortical malformations in some patients, and variable dysmorphic facial features. (OMIM)" [] synonym: "CSNK2A1-RELATED CONDITION" EXACT [] synonym: "CSNK2A1- RELATED DISORDERS" RELATED [] synonym: "OCNDS" EXACT [] xref: MIM:617062 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:92 ! speech disorder [Term] id: DOID:9001346 name: Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis synonym: "Poikiloderma, Hereditary Sclerosing, with Tendon and Pulmonary Involvement" EXACT [] synonym: "POIKTMP" EXACT [] xref: MIM:615704 is_a: DOID:0080000 ! muscular disease is_a: DOID:3770 ! pulmonary fibrosis is_a: DOID:9005023 ! Hereditary Sclerosing Poikiloderma is_a: DOID:9006836 ! Contracture [Term] id: DOID:9001347 name: Leg Ulcer def: "Ulceration of the skin and underlying structures of the lower extremity. About 90% of the cases are due to venous insufficiency (VARICOSE ULCER), 5% to arterial disease, and the remaining 5% to other causes." [MESH:D007871] synonym: "Leg Ulcers" EXACT [] xref: MESH:D007871 is_a: DOID:8529 ! ulcer of lower limbs [Term] id: DOID:9001349 name: Stomatognathic Diseases def: "General or unspecified diseases of the stomatognathic system, comprising the mouth, teeth, jaws, and pharynx." [MESH:D009057] subset: RGD_JBrowse_slim synonym: "dental disease" EXACT [] synonym: "dental diseases" EXACT [] synonym: "mouth and tooth diseases" EXACT [] synonym: "stomatognathic disease" EXACT [] xref: MESH:D009057 is_a: DOID:4 ! disease [Term] id: DOID:9001350 name: Aicardi-Goutieres Syndrome 1 synonym: "AGS1" EXACT [] synonym: "Aicardi-Goutieres Syndrome 1, Autosomal Dominant" EXACT [] xref: MIM:225750 xref: NCI:C165501 is_a: DOID:0050629 ! Aicardi-Goutieres syndrome [Term] id: DOID:9001351 name: Rubella Syndrome, Congenital def: "Transplacental infection of the fetus with rubella usually in the first trimester of pregnancy, as a consequence of maternal infection, resulting in various developmental abnormalities in the newborn infant. They include cardiac and ocular lesions, deafness, microcephaly, mental retardation, and generalized growth retardation. (From Dorland, 27th ed)" [MESH:D012410] synonym: "Congenital Rubella Syndromes" EXACT [] xref: EFO:0007218 xref: MESH:D012410 xref: RDO:0006512 is_a: DOID:8781 ! rubella is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001352 name: Periodontal Pocket def: "An abnormal extension of a gingival sulcus accompanied by the apical migration of the epithelial attachment and bone resorption." [MESH:D010514] synonym: "Periodontal Pockets" EXACT [] xref: EFO:1001393 xref: MESH:D010514 is_a: DOID:824 ! periodontitis [Term] id: DOID:9001353 name: Peroxisome Biogenesis Disorder, Complementation Group 11 xref: MESH:C566634 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9001354 name: DEVELOPMENTAL DELAY, IMPAIRED GROWTH, DYSMORPHIC FACIES, AND AXONAL NEUROPATHY def: "A complex neurologic disorder characterized by impaired motor and intellectual development, hypotonia, poor overall growth, usually with short stature and microcephaly, and subtly dysmorphic facial features. Affected individuals have distal muscle weakness and muscle atrophy resulting in delayed acquisition of motor skills and persistent gait abnormalities." [MIM:619090] synonym: "DIGFAN" EXACT [] synonym: "MORC2-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] xref: MIM:619090 is_a: DOID:7319 ! axonal neuropathy is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2021-02-12T11:17:36Z [Term] id: DOID:9001355 name: Partial Atrioventricular Septal Defect, with Heterotaxy Syndrome alt_id: RDO:0013944 xref: MESH:C565249 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:0050651 ! atrioventricular septal defect is_a: DOID:225 ! syndrome [Term] id: DOID:9001356 name: Myelodysplasia, Immunodeficiency, Facial Dysmorphism, Short Stature, and Psychomotor Delay alt_id: MIM:601347 xref: MESH:C563345 is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001358 name: Rotator Cuff Tear Arthropathy def: "Rapidly destructive shoulder joint and bone disease found mainly in elderly, and predominantly in women. It is characterized by SHOULDER PAIN; JOINT INSTABILITY; and the presence of crystalline CALCIUM PHOSPHATES in the SYNOVIAL FLUID. It is associated with ROTATOR CUFF INJURIES." [MESH:D000070656] synonym: "Cuff Tear Arthropathy" EXACT [] synonym: "Milwaukee Shoulder" EXACT [] synonym: "Milwaukee Shoulder Syndrome" EXACT [] xref: MESH:D000070656 is_a: DOID:1156 ! chondrocalcinosis is_a: DOID:9005593 ! Crystal Arthropathies [Term] id: DOID:9001360 name: Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal alt_id: MIM:610644 alt_id: RDO:0009447 alt_id: RDO:0014259 synonym: "PALMOPLANTAR HYPERKERATOSIS AND TRUE HERMAPHRODITISM" NARROW [] synonym: "PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL" EXACT [] xref: MESH:C565693 is_a: DOID:0111760 ! 46,XX sex reversal is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9001361 name: Pancreatic Fistula def: "Abnormal passage communicating with the PANCREAS." [MESH:D010185] synonym: "Pancreatic Fistulas" EXACT [] xref: MESH:D010185 is_a: DOID:26 ! pancreas disease is_a: DOID:9008038 ! Digestive System Fistula [Term] id: DOID:9001362 name: Malignant Teratocarcinosarcoma synonym: "Paranasal sinus teratocarcinosarcoma" EXACT [] synonym: "Paranasal sinus teratocarcinosarcoma (type)" EXACT [] synonym: "Sinonasal teratocarcinosarcoma" EXACT [] synonym: "Sinonasal teratocarcinosarcoma (type)" EXACT [] xref: MESH:C535701 xref: RDO:0000962 is_a: DOID:3307 ! teratoma is_a: DOID:4236 ! carcinosarcoma is_a: DOID:9007971 ! Nose Neoplasms [Term] id: DOID:9001363 name: Heavy Metal Poisoning, Nervous System def: "Conditions associated with damage or dysfunction of the nervous system caused by exposure to heavy metals, which may cause a variety of central, peripheral, or autonomic nervous system injuries." [MESH:D020260] synonym: "Poisoning, Heavy Metals, Nervous System" EXACT [] xref: EFO:1001815 xref: MESH:D020260 xref: RDO:0007319 is_a: DOID:3602 ! toxic encephalopathy [Term] id: DOID:9001364 name: Aortic Arch Syndromes def: "Conditions resulting from abnormalities in the arteries branching from the ASCENDING AORTA, the curved portion of the aorta. These syndromes are results of occlusion or abnormal blood flow to the head-neck or arm region leading to neurological defects and weakness in an arm. These syndromes are associated with vascular malformations; ATHEROSCLEROSIS; TRAUMA; and blood clots." [MESH:D001015] synonym: "Aortic Arch Syndrome" EXACT [] xref: MESH:D001015 is_a: DOID:225 ! syndrome is_a: DOID:520 ! aortic disease [Term] id: DOID:9001365 name: Amebic Liver Abscess def: "Single or multiple areas of PUS due to infection by any ameboid protozoa (AMEBIASIS). A common form is caused by the ingestion of ENTAMOEBA HISTOLYTICA." [MESH:D008101] synonym: "Abscess, Amebic, Hepatic" EXACT [] synonym: "amebic liver abscesses" EXACT [] synonym: "Amoebic Hepatic Abscess" EXACT [] synonym: "Amoebic Hepatic Abscesses" EXACT [] synonym: "Amoebic Liver Abscess" EXACT [] synonym: "Amoebic Liver Abscesses" EXACT [] synonym: "Hepatic Amebiasis" EXACT [] synonym: "Hepatic Amoebiasis" EXACT [] synonym: "Hepatic Entamoebiases" EXACT [] synonym: "hepatic entamoebiasis" EXACT [] xref: MESH:D008101 is_a: DOID:9002668 ! Liver Abscess is_a: DOID:9003155 ! Parasitic Liver Diseases is_a: DOID:9181 ! amebiasis [Term] id: DOID:9001366 name: Psychomotor Agitation def: "A feeling of restlessness associated with increased motor activity. This may occur as a manifestation of nervous system drug toxicity or other conditions." [MESH:D011595] synonym: "Akathisia" EXACT [] synonym: "Psychomotor Excitement" EXACT [] synonym: "Psychomotor Hyperactivity" EXACT [] synonym: "Psychomotor Restlessness" EXACT [] synonym: "Restlessness" EXACT [] xref: MESH:D011595 is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9001367 name: NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES synonym: "ITO-RAYMOND SYNDROME" EXACT [] synonym: "NEDALVS" EXACT [] synonym: "WASF1-RELATED CONDITION" EXACT [] synonym: "WASF1-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: EFO:0010657 xref: MIM:618707 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:93 ! language disorder created_by: slaulede creation_date: 2022-03-22T15:38:52Z [Term] id: DOID:9001368 name: Uncombable Hair Syndrome 2 def: "A condition characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. (OMIM)" [] synonym: "UHS2" EXACT [] xref: MIM:617251 is_a: DOID:9005997 ! Uncombable Hair Syndrome created_by: rgd creation_date: 2017-07-12T00:00:00Z [Term] id: DOID:9001369 name: Multiple Epiphyseal Dysplasia with Robin Phenotype alt_id: MIM:601560 xref: MESH:C563291 is_a: DOID:12721 ! multiple epiphyseal dysplasia is_a: DOID:674 ! cleft palate is_a: DOID:9005616 ! Micrognathism is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9001371 name: Eosinophilia def: "Abnormal increase of EOSINOPHILS in the blood, tissues or organs." [MESH:D004802] synonym: "Eosinophilias" EXACT [] synonym: "Tropical Eosinophilia" EXACT [] synonym: "Tropical Eosinophilias" EXACT [] xref: MESH:D004802 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9001372 name: Immunodeficiency 114 def: "An autosomal recessive immunologic disorder characterized by the onset of oral ulcers and recurrent skin and respiratory infections in early infancy. Caused by homozygous mutation in the SLC19A1 gene on chromosome 21q22." [MIM:620603] synonym: "IMD114" EXACT [] synonym: "Immunodeficiency 114, folate-responsive" EXACT [] xref: MIM:620603 is_a: DOID:612 ! primary immunodeficiency disease created_by: tutajm creation_date: 2023-12-04T12:21:27Z [Term] id: DOID:9001373 name: Sonoda Syndrome alt_id: MIM:270460 synonym: "congenital heart defect-round face-developmental delay syndrome" EXACT [] synonym: "congenital heart defect with round face and developmental delay syndrome" EXACT [] synonym: "ROUND FACE WITH DEPRESSED NASAL BRIDGE AND SMALL MOUTH, CONGENITAL HEART DEFECT, AND RETARDED DEVELOPMENT" EXACT [] xref: GARD:4905 xref: MESH:C536680 xref: MONDO:0010039 xref: ORDO:1355 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001374 name: Primate Diseases def: "Diseases of animals within the order PRIMATES. This term includes diseases of Haplorhini and Strepsirhini." [MESH:D018419] synonym: "Primate Disease" EXACT [] xref: MESH:D018419 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9001376 name: Papillary Cystadenoma def: "A benign neoplasm of the ovary." [MESH:D018292] synonym: "Papillary Cystadenomas" EXACT [] xref: MESH:D018292 is_a: DOID:2634 ! cystadenoma [Term] id: DOID:9001377 name: Bridged Sella Turcica alt_id: MIM:182200 xref: MESH:C566689 is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:9001378 name: Nuclear Type Mitochondrial Complex I Deficiency 36 synonym: "MC1DN36" EXACT [] xref: MIM:619170 is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2021-02-01T18:23:04Z [Term] id: DOID:9001379 name: Lissencephaly and Agenesis of Corpus Callosum synonym: "Subcortical laminar heterotopia, X-linked" EXACT [] xref: MESH:C531731 xref: RDO:0000150 is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias [Term] id: DOID:9001380 name: Absent Eyebrows and Eyelashes with Mental Retardation alt_id: MIM:200130 synonym: "Pseudoprogeria Syndrome" EXACT [] xref: MESH:C563111 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:12835 ! quadriplegia is_a: DOID:1686 ! glaucoma [Term] id: DOID:9001382 name: Combined Congenital Deficiency of Intrinsic Factor and R Binder alt_id: MIM:243320 xref: MESH:C565461 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9001383 name: Atelosteogenesis Type 1 alt_id: MIM:108720 synonym: "AO1" EXACT [] synonym: "AOI" EXACT [] synonym: "atelosteogenesis type I" EXACT [] synonym: "FLNB-related spectrum disorder" BROAD [] synonym: "giant cell chondrodysplasia" EXACT [] synonym: "spondylohumerofemoral hypoplasia" EXACT [] xref: MESH:C535396 is_a: DOID:0050648 ! atelosteogenesis [Term] id: DOID:9001384 name: Kaposiform Hemangioendothelioma synonym: "Congenital cutaneous multifocal kaposiform hemangioendothelioma" EXACT [] synonym: "Kaposiform hemangio-endothelioma" EXACT [] xref: MESH:C537007 is_a: DOID:8632 ! Kaposi's sarcoma is_a: DOID:9000293 ! Hemangioendothelioma is_a: DOID:9007438 ! Kasabach-Merritt Syndrome [Term] id: DOID:9001385 name: Complement Factor D Deficiency alt_id: MIM:613912 synonym: "CFDD" EXACT [] synonym: "CFD-RELATED CONDITION" EXACT [] synonym: "Factor D Deficiency" EXACT [] xref: MESH:C565027 is_a: DOID:626 ! complement deficiency [Term] id: DOID:9001386 name: Albinism def: "General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair." [MESH:D000417] xref: MESH:D000417 xref: NCI:C84543 is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9005660 ! Hypopigmentation is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9001387 name: Rhabditida Infections def: "Infections with nematodes of the order RHABDITIDA." [MESH:D017196] synonym: "Rhabditida Infection" EXACT [] synonym: "Rhabditida infectious disease" EXACT [] xref: EFO:0007468 xref: MESH:D017196 is_a: DOID:9004401 ! Secernentea Infections [Term] id: DOID:9001388 name: CHROMOSOME 2p16.3 DELETION SYNDROME xref: MIM:614332 xref: RDO:9001543 is_a: DOID:225 ! syndrome is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9001390 name: Testis Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the testes, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "Testicular Ischemia-Reperfusion Injury" EXACT [] synonym: "Testicular Reperfusion Injury" EXACT [] synonym: "Testis Ischemia-Reperfusion Injury" EXACT [] is_a: DOID:2519 ! testicular disease is_a: DOID:9004009 ! Reperfusion Injury [Term] id: DOID:9001391 name: Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 def: "A highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Caused by heterozygous mutation in the H3F3A gene on chromosome 1q42." [MIM:619720] synonym: "BRYLIB1" EXACT [] synonym: "H3-3A-RELATED CONDITION" BROAD [] synonym: "H3F3A-RELATED DISORDERS" BROAD [] xref: MIM:619720 is_a: DOID:9002771 ! Bryant-Li-Bhoj Neurodevelopmental Syndrome created_by: mtutaj creation_date: 2022-02-10T13:41:56Z [Term] id: DOID:9001392 name: Herpes Simplex Encephalitis 3 synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 5" RELATED [] synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 5" RELATED [] synonym: "Herpes Simplex Encephalitis, Susceptibility To, 3" RELATED [] synonym: "IIAE5" EXACT [] synonym: "TRAF3 HAPLOINSUFFICIENCY" EXACT [] synonym: "TRAF3-RELATED CONDITION" EXACT [] xref: MIM:614849 is_a: DOID:9003870 ! Herpes Simplex Encephalitis created_by: rgd creation_date: 2015-06-08T00:00:00Z [Term] id: DOID:9001393 name: Patternless Dermal Ridges alt_id: MIM:125540 xref: MESH:C565109 is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9001395 name: Walker Dyson Syndrome synonym: "Aniridia associated with mental retardation and other eye abnormalities" EXACT [] xref: MESH:C536568 xref: RDO:0002188 is_a: DOID:1059 ! intellectual disability is_a: DOID:12271 ! aniridia is_a: DOID:225 ! syndrome [Term] id: DOID:9001396 name: Hypergonadotropic Gonadal Dysgenesis XX Type, Short Stature, and Recurrent Metabolic Acidosis alt_id: MIM:605756 synonym: "hypergonadotropic gonadal dysgenesis, XX type, with short stature and recurrent metabolic acidosis" EXACT [] synonym: "hypergonadotropic ovarian dysgenesis with short stature and recurrent metabolic acidosis" EXACT [] xref: MESH:C565295 is_a: DOID:14450 ! 46 XX gonadal dysgenesis is_a: DOID:9002802 ! Acidoses is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001397 name: 5-Hydroxytryptamine Oxygenase Regulator synonym: "HTOR" EXACT [] xref: MIM:143460 xref: RDO:0008008 is_a: DOID:14250 ! Down syndrome [Term] id: DOID:9001398 name: Hirschsprung Disease Polydactyly Heart Disease xref: MESH:C538120 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1148 ! polydactyly [Term] id: DOID:9001399 name: Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies synonym: "IDDCDF" EXACT [] synonym: "TMEM94-RELATED CONDITION" EXACT [] xref: MIM:618316 is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2019-04-16T09:21:20Z [Term] id: DOID:9001400 name: Aliivibrio Infections def: "Infections with bacteria of the genus ALIIVIBRIO." [MESH:D059707] synonym: "Aliivibrio Infection" EXACT [] xref: MESH:D059707 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9001401 name: Periventricular Nodular Heterotopia 9 def: "An autosomal dominant neurologic disorder characterized as a malformation of cortical development caused by heterozygous mutation in the MAP1B gene on chromosome 5q13. (OMIM)" [] synonym: "MAP1B-RELATED CONDITION" BROAD [] synonym: "PVNH9" EXACT [] xref: MIM:618918 is_a: DOID:0050454 ! periventricular nodular heterotopia created_by: mtutaj creation_date: 2020-06-30T07:52:46Z [Term] id: DOID:9001402 name: Acro-Osteolysis alt_id: MIM:102400 def: "A condition with congenital and acquired forms causing recurrent ulcers in the fingers and toes. The congenital form exhibits autosomal dominant inheritance; the acquired form is found in workers who handle VINYL CHLORIDE. When acro-osteolysis is accompanied by generalized OSTEOPOROSIS and skull deformations, it is called HAJDU-CHENEY SYNDROME." [MESH:D030981] synonym: "acroosteolysis" EXACT [] synonym: "acro-osteolysis syndrome" EXACT [] synonym: "acroosteolysis syndrome" EXACT [] synonym: "acro-osteolysis syndromes" EXACT [] xref: MESH:D030981 is_a: DOID:0080006 ! bone development disease is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:9001404 name: Aphalangia Syndactyly Microcephaly xref: MESH:C537787 is_a: DOID:10907 ! microcephaly is_a: DOID:11193 ! syndactyly is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001406 name: Henipavirus Infections def: "Infections with viruses of the genus HENIPAVIRUS, family PARAMYXOVIRIDAE." [MESH:D045464] synonym: "Henipavirus Infection" EXACT [] xref: EFO:0007300 xref: MESH:D045464 xref: RDO:0007514 is_a: DOID:9007244 ! Paramyxoviridae Infections [Term] id: DOID:9001407 name: Microcephaly Microphthalmos Blindness xref: MESH:C537541 xref: RDO:0003400 is_a: DOID:10629 ! microphthalmia is_a: DOID:10907 ! microcephaly is_a: DOID:1432 ! blindness [Term] id: DOID:9001408 name: Dilated Cardiomyopathy 2J def: "A disease characterized by onset of heart failure within the first year of life, with severely reduced left ventricular ejection fractions. Caused by homozygous or compound heterozygous mutation in the FLII gene on chromosome 17p11." [MIM:620635] synonym: "CMD2J" EXACT [] xref: MIM:620635 is_a: DOID:12930 ! dilated cardiomyopathy created_by: tutajm creation_date: 2023-12-04T12:54:57Z [Term] id: DOID:9001409 name: Female Genital Tuberculosis def: "MYCOBACTERIUM infections of the female reproductive tract (GENITALIA, FEMALE)." [MESH:D014384] synonym: "Female genital tuberculoses" EXACT [] xref: EFO:1000935 xref: MESH:D014384 is_a: DOID:2149 ! urogenital tuberculosis is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:9001410 name: Acquired CJD synonym: "Sporadic CJD" EXACT [] xref: MESH:C538481 is_a: DOID:11949 ! Creutzfeldt-Jakob disease is_a: DOID:5435 ! variant Creutzfeldt-Jakob disease [Term] id: DOID:9001411 name: Genetic Anticipation def: "The apparent tendency of certain diseases to appear at earlier AGE OF ONSET and with increasing severity in successive generations. (Rieger et al., Glossary of Genetics: Classical and Molecular, 5th ed)" [MESH:D020132] xref: MESH:D020132 is_a: DOID:9000397 ! Genetic Predisposition to Disease [Term] id: DOID:9001412 name: Glaucoma 1, Open Angle, F alt_id: MIM:603383 synonym: "GLC1F" EXACT [] synonym: "primary open angle glaucoma, adult-onset" BROAD [] xref: MESH:C566383 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9001413 name: Prune Belly Syndrome with Pulmonic Stenosis, Mental Retardation, and Deafness alt_id: MIM:264140 xref: MESH:C562894 is_a: DOID:0060889 ! prune belly syndrome is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:6420 ! pulmonary valve stenosis [Term] id: DOID:9001414 name: Neurosyphilis def: "Infections of the central nervous system caused by TREPONEMA PALLIDUM which present with a variety of clinical syndromes. The initial phase of infection usually causes a mild or asymptomatic meningeal reaction. The meningovascular form may present acutely as BRAIN INFARCTION. The infection may also remain subclinical for several years. Late syndromes include general paresis; TABES DORSALIS; meningeal syphilis; syphilitic OPTIC ATROPHY; and spinal syphilis. General paresis is characterized by progressive DEMENTIA; DYSARTHRIA; TREMOR; MYOCLONUS; SEIZURES; and Argyll-Robertson pupils. (Adams et al., Principles of Neurology, 6th ed, pp722-8)" [MESH:D009494] synonym: "central nervous system syphilis" EXACT [] synonym: "General Paralyses" EXACT [] synonym: "General Paralysis" EXACT [] synonym: "General Pareses" EXACT [] synonym: "General Paresis" EXACT [] synonym: "General Paresis of the Insane" EXACT [] synonym: "Gummatous Neurosyphilis" EXACT [] synonym: "Juvenile Neurosyphilis" EXACT [] synonym: "Juvenile Pareses" EXACT [] synonym: "Juvenile Paresis" EXACT [] synonym: "Neurosyphilis, Symptomatic" EXACT [] synonym: "Paretic Neurosyphilis" EXACT [] synonym: "Secondary Neurosyphilis" EXACT [] synonym: "syphilis, CNS" EXACT [] xref: MESH:D009494 is_a: DOID:4166 ! syphilis is_a: DOID:9002742 ! Central Nervous System Bacterial Infections [Term] id: DOID:9001415 name: Mycobacterium Infections def: "Infections with bacteria of the genus MYCOBACTERIUM." [MESH:D009164] synonym: "Mycobacterial Disease" EXACT [] synonym: "Mycobacterial Disease, Mendelian Susceptibility to" RELATED [] synonym: "mycobacterium infection" EXACT [] synonym: "RECURRENT MYCOBACTERIAL INFECTIONS" NARROW [] xref: EFO:0009429 xref: MESH:D009164 is_a: DOID:9000673 ! Actinomycetales Infections [Term] id: DOID:9001416 name: Juvenile-Onset Scleroderma synonym: "juvenile scleroderma" EXACT [] xref: MESH:C543759 is_a: DOID:418 ! systemic scleroderma is_a: DOID:8472 ! localized scleroderma [Term] id: DOID:9001417 name: Femoral Neck Fractures def: "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." [MESH:D005265] synonym: "femoral neck fracture" EXACT [] synonym: "femur neck fracture" EXACT [] synonym: "femur neck fractures" EXACT [] xref: EFO:1001792 xref: MESH:D005265 is_a: DOID:9007265 ! Hip Fractures [Term] id: DOID:9001418 name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, WITH PIGMENTARY MOSAICISM AND COARSE FACIES def: "This disease is characterized by a phenotypic triad of severe developmental delay, coarse facial dysmorphisms, and Blaschkoid pigmentary mosaicism. The disorder affects both males and females." [MIM:301066] synonym: "MRXSPF" EXACT [] synonym: "X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies" EXACT [] xref: MIM:301066 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies created_by: slaulede creation_date: 2022-02-08T14:20:40Z [Term] id: DOID:9001419 name: Fructose and Galactose Intolerance xref: MESH:C565558 xref: MIM:229500 xref: MONDO:0009248 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9001420 name: Cutaneous Hemangiomatosis with Associated Features alt_id: MIM:234800 xref: MESH:C562438 is_a: DOID:255 ! hemangioma is_a: DOID:2712 ! phimosis is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9005077 ! Joint Instability [Term] id: DOID:9001421 name: Diaphragmatic Hernia, Traumatic alt_id: RDO:0005787 def: "The type of DIAPHRAGMATIC HERNIA caused by TRAUMA or injury, usually to the ABDOMEN." [MESH:D006549] synonym: "Traumatic Diaphragmatic Hernias" EXACT [] xref: EFO:1001861 xref: MESH:D006549 is_a: DOID:9001932 ! Abdominal Injuries is_a: DOID:9009073 ! Diaphragmatic Hernia [Term] id: DOID:9001422 name: Radial Heads, Posterior Dislocation Of alt_id: MIM:179200 synonym: "Congenital Posterior Dislocation of the Radial Head" EXACT [] xref: MESH:C566728 is_a: DOID:9001456 ! Bone Malalignment [Term] id: DOID:9001423 name: Combined Exocrine Pancreatic Insufficiency alt_id: RDO:0013711 xref: MESH:C564907 is_a: DOID:13316 ! exocrine pancreatic insufficiency is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9001424 name: Hyperleucine-Isoleucinemia alt_id: MIM:238340 xref: MESH:C562674 is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9001425 name: Triphalangeal Thumb xref: MESH:C573898 xref: RDO:0015779 is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9001427 name: Geographic Atrophy def: "A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates." [MESH:D057092] synonym: "Dry Macular Degeneration" EXACT [] synonym: "Dry Macular Degenerations" EXACT [] synonym: "Geographic Atrophies" EXACT [] xref: EFO:1001492 xref: MESH:D057092 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:9001429 name: Primary Cortisol Resistance alt_id: RDO:0000270 xref: MESH:C535280 is_a: DOID:3946 ! pituitary-dependent Cushing's disease [Term] id: DOID:9001430 name: Maroteaux Fonfria Syndrome synonym: "Apert syndrome with polydactyly of hands and feet" EXACT [] synonym: "Apparent Apert syndrome with polydactyly" EXACT [] xref: MESH:C536023 xref: RDO:0001434 is_a: DOID:1148 ! polydactyly is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:225 ! syndrome [Term] id: DOID:9001431 name: internalizing disorder def: "This disease is a type of mental or behavioral disorder, typically in children and young adults, with symptoms including depression, anxiety and withdrawal." [EFO:0020971] synonym: "internalizing behavior" EXACT [] synonym: "internalizing symptoms" EXACT [] xref: EFO:0020971 is_a: DOID:150 ! disease of mental health created_by: slaulede creation_date: 2023-01-05T11:26:10Z [Term] id: DOID:9001432 name: Oculocutaneous Albinism Type VIII synonym: "OCA8" EXACT [] xref: MIM:619165 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism created_by: mtutaj creation_date: 2021-01-29T14:16:28Z [Term] id: DOID:9001433 name: Multiple Eruptive Milia alt_id: MIM:157400 xref: MESH:C562823 is_a: DOID:161 ! keratosis [Term] id: DOID:9001434 name: Focal Segmental Glomerulosclerosis and Neurodevelopmental Syndrome def: "Characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Caused by heterozygous mutation in the TRIM8 gene on chromosome 10q24. (OMIM)" [] synonym: "FSGSNEDS" EXACT [] synonym: "TRIM8-RELATED CONDITION" EXACT [] xref: MIM:619428 is_a: DOID:1312 ! focal segmental glomerulosclerosis is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2021-08-06T16:53:38Z [Term] id: DOID:9001435 name: Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant alt_id: RDO:0014213 xref: MESH:C565626 is_a: DOID:14687 ! diastrophic dysplasia [Term] id: DOID:9001436 name: Immunodeficiency 68 alt_id: MIM:612260 def: "An autosomal recessive primary immunodeficiency characterized by severe systemic and invasive bacterial infections beginning in infancy or early childhood. (OMIM)" [] synonym: "MYD88D" EXACT [] synonym: "MYD88 deficiency" EXACT [] synonym: "Recurrent Pyogenic Bacterial Infections Due To MYD88 Deficiency" EXACT [] xref: MESH:C567379 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9001437 name: Aplasia or Hypoplasia of Breasts and/or Nipples 2 synonym: "aplasia or hypoplasia of the breasts and/or nipples-2" EXACT [] synonym: "BNAH2" EXACT [] xref: MIM:616001 is_a: DOID:9000865 ! Amastia [Term] id: DOID:9001438 name: Pseudoatrophoderma Colli alt_id: MIM:177350 xref: MESH:C562909 is_a: DOID:37 ! skin disease [Term] id: DOID:9001440 name: Oculopharyngeal Myopathy with Leukoencephalopathy 1 synonym: "OPML1" EXACT [] xref: MIM:618637 is_a: DOID:423 ! myopathy is_a: DOID:9002704 ! Leukoencephalopathies created_by: mtutaj creation_date: 2020-11-23T12:37:17Z [Term] id: DOID:9001441 name: Adenomatous Polyps def: "Benign neoplasms derived from glandular epithelium. (From Stedman, 25th ed)" [MESH:D018256] synonym: "Adenomatous Polyp" EXACT [] xref: MESH:D018256 is_a: DOID:657 ! adenoma is_a: DOID:9003896 ! Polyps [Term] id: DOID:9001442 name: Ho Kaufman Mcalister Syndrome xref: MESH:C538325 is_a: DOID:0080001 ! bone disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9005560 ! Congenital Hip Dislocation is_a: DOID:9005616 ! Micrognathism is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007828 ! Abnormalities, Drug-Induced [Term] id: DOID:9001443 name: Hypercapnia def: "A clinical manifestation of abnormal increase in the amount of carbon dioxide in arterial blood." [MESH:D006935] xref: MESH:D006935 is_a: DOID:9000575 ! Respiratory Signs and Symptoms [Term] id: DOID:9001444 name: Moyamoya Disease 5 synonym: "MYMY5" EXACT [] xref: MIM:614042 is_a: DOID:13099 ! Moyamoya disease [Term] id: DOID:9001445 name: Cleft Palate, Psychomotor Retardation, and Distinctive Facial Features synonym: "CPRF" EXACT [] synonym: "neurodevelopmental and congenital anomalies" BROAD [] xref: MIM:616728 is_a: DOID:674 ! cleft palate is_a: DOID:9001487 ! Facies is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001446 name: Mesial Movement of Teeth def: "Migration of the teeth toward the midline or forward in the DENTAL ARCH. (From Boucher's Clinical Dental Terminology, 4th ed)" [MESH:D008644] synonym: "Mesial Drift of Teeth" EXACT [] synonym: "Mesial Migration of Teeth" EXACT [] synonym: "Teeth Mesial Drift" EXACT [] synonym: "Teeth Mesial Migration" EXACT [] synonym: "Teeth Mesial Movement" EXACT [] xref: MESH:D008644 xref: RDO:0006118 is_a: DOID:9004828 ! Tooth Migration [Term] id: DOID:9001447 name: Spondyloepimetaphyseal Dysplasia with Hypotrichosis alt_id: MIM:183849 synonym: "Whyte Petersen McAlister syndrome" EXACT [] synonym: "Whyte syndrome" EXACT [] xref: MESH:C535783 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:9001448 name: Familial Thrombomodulin Anomalies xref: MESH:C536900 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:9001449 name: Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction def: "This disease is an autosomal recessive disorder characterized by shallow breathing and apneic spells apparent in the neonatal period. Affected infants require mechanical ventilation due to impaired ventilatory response to hypercapnia, as well as tube feeding due to poor swallowing, aspiration, and gastrointestinal dysmotility." [MIM:619482] synonym: "CCHS2" EXACT [] xref: MIM:619482 is_a: DOID:0060731 ! congenital central hypoventilation syndrome created_by: slaulede creation_date: 2021-10-15T13:30:54Z [Term] id: DOID:9001450 name: Congenital Anterior Cervical Hypertrichosis with Peripheral Sensory and Motor Neuropathy alt_id: MIM:239840 xref: MESH:C565492 is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9001451 name: Acrodysostosis 1, with or without Hormone Resistance synonym: "ACRDYS1" EXACT [] synonym: "ADOHR" EXACT [] xref: MIM:101800 is_a: DOID:14669 ! acrodysostosis [Term] id: DOID:9001452 name: Chromosome 8, Monosomy 8p synonym: "Deletion 8p" EXACT [] synonym: "Monosomy 8p" EXACT [] xref: MESH:C537825 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9001454 name: Partial Trisomy 3q Syndrome synonym: "Chromosome 3, Distal 3q2 Trisomy" EXACT [] synonym: "Chromosome 3, Trisomy 3q2" EXACT [] synonym: "Partial Duplication 3q Syndrome" EXACT [] xref: MESH:C537635 xref: RDO:0003511 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9001455 name: Intestinal Helminthiasis xref: MESH:C531698 xref: RDO:0000118 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9002892 ! Parasitic Intestinal Diseases [Term] id: DOID:9001456 name: Bone Malalignment def: "Displacement of bones out of line in relation to joints. It may be congenital or traumatic in origin." [MESH:D017760] synonym: "Bone Malalignments" EXACT [] synonym: "Bone Malposition" EXACT [] synonym: "Bone Malpositions" EXACT [] synonym: "Bone Misalignment" EXACT [] synonym: "Bone Misalignments" EXACT [] xref: MESH:D017760 is_a: DOID:0080001 ! bone disease [Term] id: DOID:9001457 name: Dyssegmental Dysplasia, Rolland-Desbuquois Type alt_id: MIM:224400 synonym: "Anisospondylic camptomicromelic dwarfism, Rolland-Desbuquois type" EXACT [] synonym: "Dyssegmental dwarfism, Rolland-Desbuquois type" EXACT [] xref: MESH:C537999 is_a: DOID:0050463 ! campomelic dysplasia is_a: DOID:4480 ! achondroplasia is_a: DOID:674 ! cleft palate [Term] id: DOID:9001458 name: Hypophosphatemic Rickets def: "A disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; resulting from lack of phosphate reabsorption by the kidneys and possible defects in vitamin D metabolism." [MESH:D063730] synonym: "Acquired Vitamin D Resistant Rickets" EXACT [] synonym: "Hypocalcemic Vitamin D Resistant Rickets" EXACT [] synonym: "Hypophosphatemia, Vitamin D-Resistant Rickets" EXACT [] synonym: "Hypophosphatemic Ricket" EXACT [] synonym: "Hypophosphatemic Vitamin D Resistant Rickets" EXACT [] synonym: "Vitamin D-Resistant Rickets" EXACT [] xref: MESH:D063730 is_a: DOID:0050336 ! hypophosphatemia is_a: DOID:10609 ! rickets [Term] id: DOID:9001459 name: Mental Retardation Associated with Psoriasis alt_id: MIM:309480 synonym: "Mental Retardation and Psoriasis" EXACT [] xref: MESH:C564107 is_a: DOID:1059 ! intellectual disability is_a: DOID:8893 ! psoriasis [Term] id: DOID:9001460 name: 22q11 Deletion Syndrome def: "Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. In addition, variable developmental problems and schizoid features are also associated with this syndrome. (From BMC Med Genet. 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome." [MESH:D058165] synonym: "22q11 Deletion Syndromes" EXACT [] xref: MESH:D058165 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:11199 ! hypoparathyroidism is_a: DOID:1682 ! congenital heart disease is_a: DOID:9002213 ! Lymphatic Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001461 name: Autonomic Dysreflexia def: "A syndrome associated with damage to the spinal cord above the mid thoracic level (see SPINAL CORD INJURIES) characterized by a marked increase in the sympathetic response to minor stimuli such as bladder or rectal distention. Manifestations include HYPERTENSION; TACHYCARDIA (or reflex bradycardia); FEVER; FLUSHING; and HYPERHIDROSIS. Extreme hypertension may be associated with a STROKE. (From Adams et al., Principles of Neurology, 6th ed, pp538 and 1232; J Spinal Cord Med 1997;20(3):355-60)" [MESH:D020211] synonym: "Autonomic Dysreflexias" EXACT [] synonym: "Autonomic Hyperreflexia" EXACT [] synonym: "Autonomic Hyperreflexias" EXACT [] synonym: "Spinal Autonomic Dysreflexia" EXACT [] synonym: "Spinal Autonomic Dysreflexias" EXACT [] xref: EFO:1001762 xref: MESH:D020211 is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:225 ! syndrome is_a: DOID:9000039 ! Spinal Cord Injuries [Term] id: DOID:9001462 name: Meibomian Gland Dysfunction def: "A chronic dysfunction of MEIBOMIAN GLANDS characterized by altered tear film stability and function due to a decrease or alteration in lipid quality/content in meibum. It is often associated with evaporative-type DRY EYE SYNDROME. (MESH)" [] synonym: "MGD" EXACT [] synonym: "MG dysfunction" EXACT [] synonym: "posterior blepharitis" EXACT [] xref: MESH:D000080343 is_a: DOID:9423 ! blepharitis [Term] id: DOID:9001463 name: Shaheen Syndrome synonym: "COG6-RELATED CONDITION" BROAD [] synonym: "SHNS" EXACT [] xref: MIM:615328 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome [Term] id: DOID:9001464 name: Weill-Marchesani Syndrome 2 alt_id: MIM:608328 synonym: "GEMMS" EXACT [] synonym: "GEMSS Syndrome" EXACT [] synonym: "Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature syndrome" EXACT [] synonym: "Glaucoma-Lens Ectopia-Microspherophakia-Stiffness-Shortness Syndrome" EXACT [] synonym: "Weill Marchesani syndrome, autosomal dominant" EXACT [] synonym: "WMS2" EXACT [] xref: MESH:C537679 is_a: DOID:0050475 ! Weill-Marchesani syndrome is_a: DOID:1686 ! glaucoma is_a: DOID:381 ! arthropathy is_a: DOID:9004201 ! Ectopia Lentis is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001465 name: chronic venous hypertension def: "Chronic venous insufficiency is a result of venous hypertension which is secondary to venous valvular reflux in deep or superficial veins." [EFO:0010675] xref: EFO:0010675 relationship: part_of DOID:0050853 ! chronic venous insufficiency created_by: slaulede creation_date: 2022-12-05T15:29:53Z [Term] id: DOID:9001466 name: Hirschsprung Disease Ganglioneuroblastoma synonym: "Neuroblastoma with Hirschsprung disease" EXACT [] xref: MESH:C538119 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:4163 ! ganglioneuroblastoma [Term] id: DOID:9001467 name: Livedo Reticularis def: "A condition characterized by a reticular or fishnet pattern on the skin of lower extremities and other parts of the body. This red and blue pattern is due to deoxygenated blood in unstable dermal blood vessels. The condition is intensified by cold exposure and relieved by rewarming." [MESH:D054068] xref: EFO:1001804 xref: MESH:D054068 xref: RDO:0007650 is_a: DOID:341 ! peripheral vascular disease is_a: DOID:9007472 ! Skin Manifestations is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:9001468 name: Neglected Diseases def: "Diseases that are underfunded and have low name recognition but are major burdens in less developed countries. The World Health Organization has designated six tropical infectious diseases as being neglected in industrialized countries that are endemic in many developing countries (HELMINTHIASIS; LEPROSY; LYMPHATIC FILARIASIS; ONCHOCERCIASIS; SCHISTOSOMIASIS; and TRACHOMA)." [MESH:D058069] synonym: "Neglected Disease" EXACT [] xref: MESH:D058069 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9001469 name: Acrogeria, Gottron Type alt_id: MIM:201200 synonym: "Acrometageria" EXACT [] synonym: "Metageria" EXACT [] xref: MESH:C538187 is_a: DOID:3911 ! progeria [Term] id: DOID:9001470 name: Ciguatera Poisoning def: "Poisoning caused by ingestion of SEAFOOD containing microgram levels of CIGUATOXINS. The poisoning is characterized by gastrointestinal, neurological and cardiovascular disturbances." [MESH:D036841] synonym: "Ciguatera" EXACT [] synonym: "Ciguatera Fish Poisoning" EXACT [] synonym: "Ciguatera Fish Poisonings" EXACT [] synonym: "Ciguatera Poisonings" EXACT [] xref: EFO:1001291 xref: MESH:D036841 is_a: DOID:9006436 ! Foodborne Diseases [Term] id: DOID:9001471 name: Anorectal Malformations alt_id: MIM:107100 def: "Congenital defects in the anus and the rectum often involving the urinary and genital tracts." [MESH:D000071056] synonym: "anorectal anomalies" EXACT [] synonym: "anorectal anomaly" EXACT [] synonym: "anorectal atresia" EXACT [] synonym: "anorectal atresias" EXACT [] synonym: "anorectal malformation" EXACT [] synonym: "anorectal stenoses" EXACT [] synonym: "anorectal stenosis" EXACT [] xref: MESH:D000071056 xref: MONDO:0019938 is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:9001472 name: Nasal Polyps def: "Focal accumulations of EDEMA fluid in the NASAL MUCOSA accompanied by HYPERPLASIA of the associated submucosal connective tissue. Polyps may be NEOPLASMS, foci of INFLAMMATION, degenerative lesions, or malformations." [MESH:D009298] synonym: "Nasal Polyp" EXACT [] synonym: "Nasal Polyposis" EXACT [] xref: EFO:1000391 xref: MESH:D009298 is_a: DOID:2825 ! nose disease is_a: DOID:9003896 ! Polyps [Term] id: DOID:9001473 name: Severe Chronic Neutropenia synonym: "benign familial leukopenia" EXACT [] synonym: "chronic familial neutropenia" EXACT [] xref: MESH:C535815 is_a: DOID:1227 ! neutropenia [Term] id: DOID:9001474 name: Neurodevelopmental Disorder with Seizures and Nonepileptic Hyperkinetic Movements def: "An autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding." [MIM:618497] synonym: "CACNA1B-RELATED CONDITION" EXACT [] synonym: "NEDNEH" EXACT [] xref: EFO:0010276 xref: MIM:618497 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2019-09-16T12:55:55Z [Term] id: DOID:9001475 name: Gastrocutaneous Syndrome alt_id: MIM:137270 synonym: "peptic ulcer/hiatal hernia, multiple lentigines/cafe-au-lait spots, hypertelorism, myopia" EXACT [] xref: MESH:C535651 is_a: DOID:11830 ! myopia is_a: DOID:225 ! syndrome is_a: DOID:750 ! peptic ulcer disease is_a: DOID:9002453 ! Cafe-au-Lait Spots is_a: DOID:9003133 ! Hypertelorism [Term] id: DOID:9001476 name: Yuan-Harel-Lupski Syndrome def: "A complex neurodevelopmental disorder characterized by global developmental delay and early-onset peripheral neuropathy. Caused by a contiguous gene duplication of chromosome 17p12-p11.2, including the PMP22 and RAI1 genes." [MIM:616652] synonym: "YUHAL" EXACT [] xref: MIM:616652 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2023-02-27T15:13:48Z [Term] id: DOID:9001477 name: Khalifa Graham Syndrome alt_id: MIM:600159 synonym: "pterygium colli and mental retardation with facial and digital anomalies" EXACT [] synonym: "pterygium colli, mental retardation, digital anomalies" EXACT [] xref: MESH:C535831 is_a: DOID:0002116 ! pterygium is_a: DOID:1059 ! intellectual disability is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001478 name: Giant Mammary Hamartoma synonym: "Giant hamartoma of the breast" EXACT [] xref: MESH:C536818 xref: RDO:0002510 is_a: DOID:9007253 ! Hamartoma [Term] id: DOID:9001479 name: Cerebral Toxoplasmosis def: "Infections of the BRAIN caused by the protozoan TOXOPLASMA gondii that primarily arise in individuals with IMMUNOLOGIC DEFICIENCY SYNDROMES (see also AIDS-RELATED OPPORTUNISTIC INFECTIONS). The infection may involve the brain diffusely or form discrete abscesses. Clinical manifestations include SEIZURES, altered mentation, headache, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. (From Joynt, Clinical Neurology, 1998, Ch27, pp41-3)" [MESH:D016781] synonym: "Central Nervous System Toxoplasmosis" EXACT [] synonym: "Cerebral Toxoplasmoses" EXACT [] synonym: "Intracranial Toxoplasmosis" EXACT [] synonym: "Neurotoxoplasmosis" EXACT [] xref: EFO:0007200 xref: MESH:D016781 is_a: DOID:9002216 ! Central Nervous System Protozoal Infections is_a: DOID:9008595 ! Brain Abscess is_a: DOID:9965 ! toxoplasmosis [Term] id: DOID:9001480 name: Muscle Rigidity def: "Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from MUSCLE SPASTICITY. (From Adams et al., Principles of Neurology, 6th ed, p73)" [MESH:D009127] synonym: "Catatonic Rigidity" EXACT [] synonym: "Cogwheel Rigidities" EXACT [] synonym: "Cogwheel Rigidity" EXACT [] synonym: "Extensor Rigidity" EXACT [] synonym: "Extrapyramidal Rigidity" EXACT [] synonym: "Gegenhalten" EXACT [] synonym: "Gegenhaltens" EXACT [] synonym: "Muscular Rigidity" EXACT [] synonym: "Nuchal Rigidity" EXACT [] xref: MESH:D009127 is_a: DOID:0080000 ! muscular disease is_a: DOID:9008941 ! Muscle Hypertonia [Term] id: DOID:9001481 name: Charcot-Marie-Tooth Disease Axonal Type 2FF def: "An autosomal dominant progressive axonal sensorimotor peripheral neuropathy characterized by early-childhood onset of difficulties walking or running due to atrophy and weakness of the lower limbs. Caused by heterozygous mutation in the CADM3 gene on chromosome 1q21. (OMIM)" [] synonym: "Charcot-Marie-Tooth disease type 2FF" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2FF" EXACT [] synonym: "CMT2FF" EXACT [] xref: MIM:619519 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 created_by: mtutaj creation_date: 2021-09-20T10:10:05Z [Term] id: DOID:9001482 name: Inhalation Burns def: "Burns of the respiratory tract caused by heat or inhaled chemicals." [MESH:D002059] synonym: "Inhalation Burn" EXACT [] xref: MESH:D002059 is_a: DOID:9007730 ! Burns [Term] id: DOID:9001483 name: Distal Arthrogryposis Type 2B4 synonym: "DA2B4" EXACT [] is_a: DOID:0111599 ! distal arthrogryposis type 2B created_by: slaulede creation_date: 2019-06-26T12:00:12Z [Term] id: DOID:9001484 name: Chromosome 13 Ring xref: MESH:C538303 xref: RDO:0004265 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9001485 name: Sacral Agenesis Syndrome synonym: "hereditary sacral agenesis with presacral mass, anterior meningocele, and-or teratoma, and anorectal malformation" EXACT [] xref: MESH:C566762 is_a: DOID:1088 ! meningocele is_a: DOID:225 ! syndrome is_a: DOID:3307 ! teratoma [Term] id: DOID:9001486 name: Radio-Renal Syndrome xref: MESH:C536267 xref: MIM:179280 xref: MONDO:0008359 xref: ORDO:3015 is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease is_a: DOID:9004402 ! Congenital Upper Extremity Deformities [Term] id: DOID:9001487 name: Facies def: "The appearance of the face that is often characteristic of a disease or pathological condition, as the elfin facies of WILLIAMS SYNDROME or the mongoloid facies of DOWN SYNDROME. (Random House Unabridged Dictionary, 2d ed)" [MESH:D019066] synonym: "facial dysmorphism" EXACT [] xref: MESH:D019066 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9001488 name: Human Influenza alt_id: MIM:614680 def: "An acute viral infection in humans involving the respiratory tract. It is marked by inflammation of the NASAL MUCOSA; the PHARYNX; and conjunctiva, and by headache and severe, often generalized, myalgia." [MESH:D007251] synonym: "Human Flu" EXACT [] synonym: "Human Influenzas" EXACT [] synonym: "Influenza in Human" EXACT [] synonym: "Influenza in Humans" EXACT [] synonym: "INFLUENZA, SEVERE, SUSCEPTIBILITY TO" EXACT [] xref: EFO:0001669 xref: EFO:0007328 xref: MESH:D007251 is_a: DOID:8469 ! influenza is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:9001489 name: Rudiger Syndrome alt_id: MIM:268650 xref: MESH:C562912 is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001490 name: Fallot Complex with Severe Mental and Growth Retardation alt_id: MIM:601127 synonym: "Bindewald Ulmer Muller syndrome" EXACT [] xref: MESH:C536608 is_a: DOID:1059 ! intellectual disability is_a: DOID:6419 ! tetralogy of Fallot is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001491 name: Sarcoma 37 def: "An experimental sarcoma of mice." [MESH:D012511] xref: MESH:D012511 is_a: DOID:9005474 ! Experimental Sarcoma [Term] id: DOID:9001492 name: Lowry Maclean syndrome alt_id: MIM:600252 synonym: "mental retardation, cleft palate, eventration of diaphragm, congenital heart defect, glaucoma, craniosynostosis, and growth failure" EXACT [] xref: MESH:C537037 is_a: DOID:10480 ! diaphragmatic eventration is_a: DOID:1059 ! intellectual disability is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:1682 ! congenital heart disease is_a: DOID:1686 ! glaucoma is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:674 ! cleft palate is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001493 name: Alpha-Fetoprotein Deficiency alt_id: MIM:615969 synonym: "AFPD" EXACT [] xref: MESH:C566300 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9001495 name: Cataract, Lamellar 2 xref: MESH:C566481 xref: RDO:0014823 is_a: DOID:83 ! cataract [Term] id: DOID:9001496 name: Sanderson Fraser Syndrome synonym: "Proptosis, Robin association, clenched hands, and multiple abnormalities" EXACT [] xref: MESH:C537232 is_a: DOID:225 ! syndrome is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:930 ! orbital disease [Term] id: DOID:9001497 name: Tay-Sachs Disease, Juvenile xref: MESH:C564782 is_a: DOID:3320 ! Tay-Sachs disease [Term] id: DOID:9001498 name: DNA Degradation, Necrotic def: "The random catabolism of DNA accompaning the irreversible damage to tissue which leads to the pathological death of one or more cells." [MESH:D053836] xref: MESH:D053836 xref: RDO:0007640 is_a: DOID:9005749 ! Necrosis [Term] id: DOID:9001499 name: Orthomyxoviridae Infections def: "Virus diseases caused by the ORTHOMYXOVIRIDAE." [MESH:D009976] synonym: "Orthomyxoviridae Infection" EXACT [] synonym: "Orthomyxoviridae infectious disease" EXACT [] synonym: "Orthomyxovirus Infection" EXACT [] synonym: "Orthomyxovirus Infections" EXACT [] xref: EFO:0007411 xref: MESH:D009976 xref: RDO:0005628 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9001500 name: Sd(a) POLYAGGLUTINATION SYNDROME def: "This condition is a result of a patient with low Sid antigen (Sd(a+) strength being transfused with blood of high Sid antigen strength (Sd(a++). Most people have weak anti-Sd(a) antibodies in their serum, which is usually of no clinical importance, but red cell agglutination and a transfusion reaction can occur if the donor blood has cells showing strong Sd(a++) expression." [MIM:615018] synonym: "BLOOD GROUP, SID SYSTEM" RELATED [] synonym: "Sd(a-) PHENOTYPE" EXACT [] synonym: "SDPS" EXACT [] xref: MIM:615018 is_a: DOID:225 ! syndrome is_a: DOID:9001837 ! Transfusion Reaction is_a: DOID:9005170 ! polyagglutination created_by: slaulede creation_date: 2022-02-03T10:46:31Z [Term] id: DOID:9001501 name: Carnitine Palmitoyltransferase II Deficiency, Lethal Neonatal synonym: "Carnitine Palmitoyltransferase II Deficiency, Antenatal" EXACT [] synonym: "Carnitine Palmitoyltransferase II Deficiency, Neonatal" EXACT [] synonym: "CPT2 Deficiency, Lethal Neonatal" EXACT [] synonym: "CPT II Deficiency, Lethal Neonatal" EXACT [] xref: MESH:C563463 xref: MIM:608836 xref: MONDO:0012136 is_a: DOID:0060235 ! carnitine palmitoyltransferase II deficiency is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9001502 name: Congenital Microtia alt_id: RDO:0015947 def: "Malformation of external portion of EAR AURICLE." [MESH:D065817] synonym: "Anotia" EXACT [] synonym: "Anotias" EXACT [] synonym: "Congenital Microtias" EXACT [] synonym: "microtia" EXACT [] synonym: "microtias" EXACT [] xref: MESH:D065817 xref: NCI:C180842 is_a: DOID:2742 ! auditory system disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9001503 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, NEONATAL RESPIRATORY INSUFFICIENCY, AND THERMODYSREGULATION def: "This disease is a severe autosomal recessive disorder characterized by neonatal respiratory distress, poor feeding, and impaired global development. Affected individuals are unable to walk or speak and have poor or absent eye contact." [MIM:618797] synonym: "NEDHRIT" EXACT [] xref: MIM:618797 is_a: DOID:11161 ! neonatal respiratory failure is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2022-02-11T15:48:00Z [Term] id: DOID:9001504 name: Transient Erythroblastopenia of Childhood alt_id: MIM:227050 synonym: "Erythroblastopenia, transient" EXACT [] synonym: "Familial transient erythroblastopenia of childhood" EXACT [] synonym: "TEC" EXACT [] xref: MESH:C536980 xref: RDO:0002718 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:9001505 name: Anal Fissure def: "A painful linear ulcer at the margin of the anus. It appears as a crack or slit in the mucous membrane of the anus and is very painful and difficult to heal. (Dorland, 27th ed & Stedman, 25th ed)" [MESH:D005401] synonym: "anal ulcer" EXACT [] synonym: "anal ulcers" EXACT [] synonym: "fissure in ano" EXACT [] synonym: "nontraumatic tear of anus" EXACT [] synonym: "solitary anal ulcer" EXACT [] synonym: "ulcer of anus" EXACT [] xref: MESH:D005401 is_a: DOID:3128 ! anus disease [Term] id: DOID:9001506 name: Situs Inversus Totalis with Cystic Dysplasia of Kidneys and Pancreas xref: MESH:C536666 xref: MIM:603643 xref: MONDO:0011354 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:2975 ! cystic kidney disease is_a: DOID:758 ! situs inversus [Term] id: DOID:9001508 name: Nairobi Sheep Disease def: "An arbovirus infection of sheep and goats transmitted by ticks. It is characterized by high fever and hemorrhagic gastroenteritis." [MESH:D009265] xref: MESH:D009265 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004137 ! Bunyaviridae Infections is_a: DOID:9006097 ! Sheep Diseases [Term] id: DOID:9001509 name: Deltaretrovirus Infections def: "Infections caused by the HTLV or BLV deltaretroviruses. They include human T-cell leukemia-lymphoma (LEUKEMIA-LYMPHOMA, T-CELL, ACUTE, HTLV-I-ASSOCIATED)." [MESH:D006800] synonym: "BLV Infection" EXACT [] synonym: "BLV Infections" EXACT [] synonym: "Deltaretrovirus Infection" EXACT [] synonym: "HTLV-BLV Infection" EXACT [] synonym: "HTLV BLV Infections" EXACT [] synonym: "HTLV Infection" EXACT [] synonym: "HTLV Infections" EXACT [] xref: EFO:1001303 xref: MESH:D006800 xref: RDO:0005817 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006644 ! Retroviridae Infections [Term] id: DOID:9001510 name: Funnel Chest alt_id: MIM:169300 def: "A developmental anomaly in which the lower sternum is posteriorly dislocated and concavely deformed, resulting in a funnel-shaped thorax." [MESH:D005660] synonym: "funnel chests" EXACT [] synonym: "pectus excavatum" EXACT [] xref: MESH:D005660 is_a: DOID:0080006 ! bone development disease is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9001511 name: Pili Torti alt_id: MIM:261900 synonym: "Twisted Hair" EXACT [] xref: MESH:C562485 is_a: DOID:421 ! hair disease [Term] id: DOID:9001512 name: Familial Amyloid Polyneuropathies alt_id: DOID:8943 def: "Inherited disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. The different clinical types based on symptoms correspond to the presence of a variety of mutations in several different proteins including transthyretin (PREALBUMIN); APOLIPOPROTEIN A-I; and GELSOLIN." [] synonym: "Amyloid Neuropathy Type 1" EXACT [] synonym: "Appalachian Type Familial Amyloid Polyneuropathy" EXACT [] synonym: "British Type Amyloid Polyneuropathy" EXACT [] synonym: "familial amyloid neuropathies" EXACT [] synonym: "Familial Amyloid Neuropathy" NARROW [] synonym: "Familial Amyloid Neuropathy, Andrade Type" EXACT [] synonym: "Familial Amyloid Polyneuropathies" EXACT [] synonym: "Familial Amyloid Polyneuropathy" EXACT [] synonym: "Familial Portuguese Polyneuritic Amyloidosis" EXACT [] synonym: "Hereditary Neuropathic Amyloidoses" EXACT [] synonym: "Hereditary Neuropathic Amyloidosis" EXACT [] synonym: "Iowa Type Amyloid Polyneuropathy" EXACT [] synonym: "Jewish Type Familial Amyloid Polyneuropathy" EXACT [] synonym: "Neuropathic Amyloid Syndrome" EXACT [] synonym: "Neuropathic Amyloid Syndromes" EXACT [] synonym: "Portuguese Polyneuritic Amyloidoses" EXACT [] synonym: "Portuguese Polyneuritic Amyloidosis" EXACT [] synonym: "Portuguese Type Familial Amyloid Neuropathy" EXACT [] synonym: "Swiss Type Amyloid Polyneuropathy" EXACT [] synonym: "Type I Familial Amyloid Polyneuropathy" EXACT [] synonym: "Type II Familial Amyloid Polyneuropathy" EXACT [] synonym: "Type III Familial Amyloid Polyneuropathy" EXACT [] synonym: "Type V Familial Amyloid Polyneuropathy" EXACT [] synonym: "Type VI Familial Amyloid Polyneuropathy" EXACT [] synonym: "Wohlwill Andrade Syndrome" EXACT [] synonym: "Wohlwill Corino Andrade syndrome" EXACT [] xref: MESH:D028227 xref: NCI:C84554 is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9006478 ! Amyloid Neuropathies [Term] id: DOID:9001513 name: Asthenozoospermia def: "A condition in which the percentage of motile sperm is abnormally low." [MESH:D053627] synonym: "Astheno Teratozoospermia" EXACT [] synonym: "Asthenoteratozoospermia" EXACT [] synonym: "Astheno Teratozoospermias" EXACT [] synonym: "Asthenoteratozoospermias" EXACT [] xref: MESH:D053627 is_a: DOID:12336 ! male infertility [Term] id: DOID:9001514 name: Hypophosphatemic Rickets, Autosomal Recessive, 1 alt_id: MIM:241520 synonym: "ARHP" EXACT [] synonym: "ARHR" EXACT [] synonym: "ARHR1" EXACT [] synonym: "Hypophosphatemia, Autosomal Recessive" EXACT [] xref: MESH:C562792 is_a: DOID:0050949 ! autosomal recessive hypophosphatemic rickets [Term] id: DOID:9001515 name: Angioma Serpiginosum, Autosomal Dominant alt_id: MIM:106050 alt_id: RDO:0001926 xref: MESH:C536365 is_a: DOID:4028 ! angioma serpiginosum [Term] id: DOID:9001516 name: Familial Thoracic Aortic Aneurysm 6 alt_id: MIM:611788 synonym: "AAT6" EXACT [] synonym: "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" EXACT [] xref: MESH:C567085 is_a: DOID:14004 ! thoracic aortic aneurysm is_a: DOID:9001467 ! Livedo Reticularis [Term] id: DOID:9001517 name: Kapur Toriello Syndrome alt_id: MIM:244300 synonym: "Cleft lip palate, facial, eye, heart and intestinal anomalies" EXACT [] synonym: "Long columella with cleft lip-palate and eye, heart, and intestinal anomalies" EXACT [] xref: MESH:C537008 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:9001518 name: Dibasic Amino Aciduria I alt_id: MIM:222690 xref: MESH:C567132 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9001519 name: Acneiform Eruptions def: "Visible efflorescent lesions of the skin caused by acne or resembling acne. (Dorland, 28th ed, p18, 575)" [MESH:D017486] synonym: "Acneiform Eruption" EXACT [] xref: MESH:D017486 xref: RDO:0004710 is_a: DOID:37 ! skin disease [Term] id: DOID:9001520 name: Symmetric Acroleukopathy alt_id: MIM:102000 xref: MESH:C566322 xref: MONDO:0007049 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:9001521 name: Subdural Hematoma def: "Accumulation of blood in the SUBDURAL SPACE between the DURA MATER and the arachnoidal layer of the MENINGES. This condition primarily occurs over the surface of a CEREBRAL HEMISPHERE, but may develop in the spinal canal (HEMATOMA, SUBDURAL, SPINAL). Subdural hematoma can be classified as the acute or the chronic form, with immediate or delayed symptom onset, respectively. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status." [MESH:D006408] synonym: "subdural hematomas" EXACT [] synonym: "Subdural Hemorrhage" EXACT [] synonym: "Subdural Hemorrhages" EXACT [] synonym: "Traumatic Subdural Hematoma" EXACT [] synonym: "traumatic subdural hematomas" EXACT [] xref: MESH:D006408 is_a: DOID:9003104 ! Intracranial Hemorrhages is_a: DOID:9006013 ! Hematoma is_a: DOID:9008598 ! Traumatic Intracranial Hemorrhage [Term] id: DOID:9001522 name: Symptom Flare Up def: "A transient exacerbation of symptoms of an existing disease or condition." [MESH:D000067251] synonym: "Acute Symptom Flare" EXACT [] synonym: "Acute Symptom Flares" EXACT [] synonym: "Symptom Flareup" EXACT [] synonym: "Symptom Flare-ups" EXACT [] synonym: "Symptom Flareups" EXACT [] synonym: "Symptom Flaring Up" EXACT [] synonym: "Symptom Flaring Ups" EXACT [] xref: MESH:D000067251 is_a: DOID:9002801 ! Recurrence [Term] id: DOID:9001523 name: Familial Multiple Coagulation Factor Deficiency IV alt_id: MIM:134430 synonym: "Factor VII and Factor VIII, Combined Deficiency" EXACT [] synonym: "FMFD IV" EXACT [] synonym: "MCFD4" EXACT [] synonym: "Multiple Coagulation Factor Deficiency IV" EXACT [] xref: MESH:C565025 is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:9001524 name: Kyphomelic Dysplasia alt_id: MIM:211350 synonym: "congenital bowing with short bones" EXACT [] xref: MESH:C538128 is_a: DOID:0080006 ! bone development disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001525 name: Congenital Heart Defects, Multiple Types, 7 synonym: "CHTD7" EXACT [] xref: MIM:618780 xref: MONDO:0032913 is_a: DOID:6419 ! tetralogy of Fallot is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types created_by: mtutaj creation_date: 2020-02-18T12:39:58Z [Term] id: DOID:9001526 name: X-Linked Scapuloperoneal Muscular Dystrophy alt_id: MIM:300695 synonym: "Scapuloperoneal Myopathy, FHL1-Related" EXACT [] synonym: "SPM" EXACT [] synonym: "X-Linked Dominant Scapuloperoneal Myopathy" EXACT [] synonym: "X-linked scapuloperoneal syndrome" EXACT [] synonym: "X-linked SPMD" EXACT [] xref: GARD:7608 xref: MESH:C567481 xref: MONDO:0010400 xref: ORDO:431272 is_a: DOID:0060253 ! scapuloperoneal myopathy [Term] id: DOID:9001527 name: Congenital Hypomyelinating Neuropathy xref: MIM:PS605253 is_a: DOID:440 ! neuromuscular disease created_by: mtutaj creation_date: 2020-10-09T10:52:51Z [Term] id: DOID:9001528 name: ARTERIAL DISSECTION synonym: "cervical artery dissection" NARROW [] synonym: "PREDISPOSITION TO DISSECTION" RELATED [] xref: EFO:1000059 xref: NCI:C99704 xref: RDO:9005210 is_a: DOID:0050828 ! artery disease created_by: rgd creation_date: 2017-12-11T00:00:00Z [Term] id: DOID:9001529 name: Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance alt_id: MIM:612947 xref: MESH:C567849 is_a: DOID:10907 ! microcephaly is_a: DOID:83 ! cataract is_a: DOID:9001487 ! Facies is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9001530 name: Succinyl-CoA:3-oxoacid CoA transferase deficiency alt_id: MIM:245050 synonym: "3-oxoacid CoA transferase deficiency" EXACT [] synonym: "Ketoacidosis due to SCOT deficiency" EXACT [] synonym: "SCOTD" EXACT [] synonym: "SCOT deficiency" EXACT [] synonym: "Succinyl-Coa 3-Oxoacid Transferase Deficiency" EXACT [] synonym: "Succinyl-Coa:3-Ketoacid Coa Transferase Deficiency" EXACT [] synonym: "succinyl-CoA:acetoacetate transferase deficiency" EXACT [] xref: MESH:C537527 is_a: DOID:9002802 ! Acidoses [Term] id: DOID:9001532 name: Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma alt_id: MIM:107550 xref: MESH:C566271 is_a: DOID:12270 ! coloboma is_a: DOID:13934 ! facial paralysis [Term] id: DOID:9001533 name: Flatulence def: "Production or presence of gas in the gastrointestinal tract which may be expelled through the anus." [MESH:D005414] synonym: "Flatus" EXACT [] xref: EFO:0009669 xref: MESH:D005414 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9001534 name: Congenital Amputation xref: MESH:C565682 xref: MONDO:0022817 is_a: DOID:9005644 ! Amniotic Band Syndrome [Term] id: DOID:9001535 name: Cytophagaceae Infections def: "Infections with bacteria of the family CYTOPHAGACEAE." [MESH:D045827] synonym: "Cytophagaceae Infection" EXACT [] synonym: "Flexibacteraceae Infection" EXACT [] synonym: "Flexibacteraceae Infections" EXACT [] xref: MESH:D045827 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9001536 name: Pseudo-TORCH Syndrome 2 def: "An autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway." [MIM:617397] synonym: "PTORCH2" EXACT [] xref: MIM:617397 is_a: DOID:2914 ! immune system disease is_a: DOID:409 ! liver disease is_a: DOID:9002061 ! Pseudo-TORCH Syndrome created_by: rgd creation_date: 2017-06-21T00:00:00Z [Term] id: DOID:9001537 name: Presumed Ocular Histoplasmosis Syndrome def: "A triad of symptoms including discrete atrophic choroidal scars in the macula or midperiphery known as histo spots, peripapillary atrophy, and choroidal neovascularization. The presumed association with histoplasmosis is mostly due to overlapping epidemiology." [] synonym: "POHS" EXACT [] xref: RDO:9000076 is_a: DOID:1417 ! choroid disease is_a: DOID:1731 ! histoplasmosis is_a: DOID:225 ! syndrome [Term] id: DOID:9001538 name: Lethal Congenital Contracture Syndrome 9 alt_id: RDO:9001629 synonym: "LCCS9" EXACT [] xref: MIM:616503 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:9001539 name: Stickler Syndrome, Type IV alt_id: MIM:614134 synonym: "COL9A1-RELATED CONDITION" BROAD [] synonym: "COL9A1-RELATED DISORDER" BROAD [] synonym: "Stickler Syndrome, Autosomal Recessive, COL9A1-Related" NARROW [] synonym: "STICKLER SYNDROME, RECESSIVE" EXACT [] synonym: "STICKLER SYNDROME, TYPE 4" EXACT [] synonym: "STL4" EXACT [] xref: MESH:C565177 is_a: DOID:0080046 ! Stickler syndrome [Term] id: DOID:9001540 name: Snijders Blok-Campeau Syndrome def: "Snijders Blok-Campeau syndrome (SNIBCPS) is an autosomal dominant neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and delayed speech acquisition. Affected individuals tend to have expressive language deficits, with speech apraxia and dysarthria. Other features include macrocephaly and characteristic facial features, such as prominent forehead and hypertelorism, hypotonia, and joint laxity. The severity of the neurologic deficits and presence of nonneurologic features is variable. SNIBCPS is caused by heterozygous mutation in the CHD3 gene on chromosome 17p13. (OMIM)" [] synonym: "CHD3-RELATED DISORDER" EXACT [] synonym: "IDDMSF" EXACT [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SPEECH DELAY, AND DYSMORPHIC FACIES" EXACT [] synonym: "SNIBCPS" EXACT [] xref: EFO:0010643 xref: MIM:618205 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9005466 ! Language Development Disorders created_by: gthayman creation_date: 2019-03-28T16:02:03Z [Term] id: DOID:9001541 name: Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 2 def: "An autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. (OMIM)" [] synonym: "PEBEL2" EXACT [] xref: MIM:618321 is_a: DOID:9006901 ! Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy created_by: mtutaj creation_date: 2019-02-13T00:00:00Z [Term] id: DOID:9001542 name: Albuminuria def: "The presence of albumin in the urine, an indicator of KIDNEY DISEASES." [MESH:D000419] synonym: "Albuminurias" EXACT [] xref: EFO:0004285 xref: MESH:D000419 is_a: DOID:576 ! proteinuria [Term] id: DOID:9001543 name: Combined Oxidative Phosphorylation Deficiency 58 def: "An autosomal recessive disorder characterized by a wide range of clinical presentations including neonatal lactic acidosis, epileptic encephalopathy, developmental delay and impaired intellectual development with nonspecific changes on brain MRI, or mitochondrial myopathy with a treatable neuromuscular transmission defect. Caused by homozygous or compound heterozygous mutation in the TEFM gene on chromosome 17q11." [MIM:620451] synonym: "COXPD58" EXACT [] xref: MIM:620451 is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: mtutaj creation_date: 2023-07-28T11:37:59Z [Term] id: DOID:9001545 name: Flood Factor Deficiency alt_id: MIM:136150 xref: MESH:C565009 is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:9001546 name: Moyamoya Disease 3 alt_id: MIM:608796 synonym: "MYMY3" EXACT [] xref: MESH:C536993 is_a: DOID:13099 ! Moyamoya disease [Term] id: DOID:9001547 name: Tibial Fractures def: "Fractures of the TIBIA." [MESH:D013978] synonym: "Segond Fracture" EXACT [] synonym: "Tibial Fracture" EXACT [] synonym: "Tillaux Fracture" EXACT [] synonym: "Toddler's Fracture" EXACT [] synonym: "Toddler Fracture" EXACT [] synonym: "Toddlers Fracture" EXACT [] xref: EFO:0003944 xref: MESH:D013978 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9008911 ! Leg Injuries [Term] id: DOID:9001548 name: Pseudohypoaldosteronism, Type IID alt_id: RDO:9000658 synonym: "FAMILIAL HYPERKALEMIC HYPERTENSION" EXACT [] synonym: "FHHT" EXACT [] synonym: "KLHL3-RELATED CONDITION" EXACT [] synonym: "PHA2D" EXACT [] xref: MIM:614495 is_a: DOID:4479 ! pseudohypoaldosteronism [Term] id: DOID:9001549 name: Aniridia 3 synonym: "AN3" EXACT [] xref: MIM:617142 is_a: DOID:12271 ! aniridia created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:9001550 name: Bethlem Myopathy 1A synonym: "Bethlem myopathy 1" BROAD [] synonym: "Bethlem myopathy 1, autosomal recessive" NARROW [] synonym: "BTHLM1" BROAD [] synonym: "BTHLM1A" EXACT [] synonym: "COL6A1-RELATED CONDITION" BROAD [] synonym: "COL6A1-related disorder" BROAD [] xref: MIM:158810 xref: MONDO:0024530 xref: NCI:C126688 is_a: DOID:0050663 ! Bethlem myopathy created_by: mtutaj creation_date: 2019-03-27T00:00:00Z [Term] id: DOID:9001551 name: Atrial Ectopic Tachycardia def: "Abnormally rapid heartbeats originating from one or more automatic foci (nonsinus pacemakers) in the HEART ATRIUM but away from the SINOATRIAL NODE. Unlike the reentry mechanism, automatic tachycardia speeds up and slows down gradually. The episode is characterized by a HEART RATE between 135 to less than 200 beats per minute and lasting 30 seconds or longer." [MESH:D013612] synonym: "Atrial Ectopic Tachycardias" EXACT [] xref: MESH:D013612 is_a: DOID:9003484 ! Atrial Tachycardia [Term] id: DOID:9001552 name: Acanthamoeba Keratitis def: "Infection of the cornea by an ameboid protozoan which may cause corneal ulceration leading to blindness." [MESH:D015823] synonym: "Acanthamoeba Keratitides" EXACT [] xref: EFO:0007126 xref: MESH:D015823 is_a: DOID:4677 ! keratitis is_a: DOID:9004432 ! Parasitic Eye Infections is_a: DOID:9181 ! amebiasis [Term] id: DOID:9001553 name: Spinal Cord Compression def: "Acute and chronic conditions characterized by external mechanical compression of the SPINAL CORD due to extramedullary neoplasm; EPIDURAL ABSCESS; SPINAL FRACTURES; bony deformities of the vertebral bodies; and other conditions. Clinical manifestations vary with the anatomic site of the lesion and may include localized pain, weakness, sensory loss, incontinence, and impotence." [MESH:D013117] synonym: "Compressive Myelopathy" EXACT [] synonym: "Conus Medullaris Syndrome" EXACT [] synonym: "Conus Medullaris Syndromes" EXACT [] synonym: "Extramedullary Spinal Cord Compression" EXACT [] synonym: "Spinal Cord Compressions" EXACT [] xref: EFO:1001845 xref: MESH:D013117 is_a: DOID:9000039 ! Spinal Cord Injuries [Term] id: DOID:9001555 name: Postaxial Polydactyly, Type A3 alt_id: MIM:607324 alt_id: RDO:0013497 synonym: "PAPA3" EXACT [] xref: MESH:C564590 is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9001556 name: Neonatal Inflammatory Skin and Bowel Disease 1 synonym: "ADAM17-RELATED CONDITION" EXACT [] synonym: "NISBD1" EXACT [] xref: MIM:614328 is_a: DOID:820 ! myocarditis is_a: DOID:9008088 ! Neonatal Inflammatory Skin and Bowel Disease [Term] id: DOID:9001557 name: Chromosome 21 Monosomy synonym: "Monosomy 21" EXACT [] xref: MESH:C537108 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9001559 name: Aphakic Bullous Keratopathy def: "A blister-like swelling of the cornea in an aphakic eye, that is an eye without a lens." [] synonym: "ABK" EXACT [] synonym: "Aphakic corneal edema" EXACT [] is_a: DOID:11031 ! bullous keratopathy [Term] id: DOID:9001560 name: Somatic Sebaceous Tumors alt_id: MIM:153245 xref: MESH:C563610 is_a: DOID:5759 ! sebaceous gland neoplasm [Term] id: DOID:9001561 name: Pseudovaginal Perineoscrotal Hypospadias alt_id: MIM:264600 synonym: "3-OXO-5 ALPHA-STEROID DELTA 4-DEHYDROGENASE DEFICIENCY" EXACT [] synonym: "5-Alpha Reductase Deficiency" EXACT [] synonym: "Familial Incomplete Male Pseudohermaphroditism, Type 2" EXACT [] synonym: "FAMILIAL INCOMPLETE MALE PSEUDOHERMAPHRODITISM, TYPE 2 MICROPENIS" NARROW [] synonym: "Male Pseudohermaphroditism due to 5-Alpha-Reductase Deficiency" EXACT [] synonym: "PPSH" EXACT [] synonym: "Steroid 5-Alpha-Reductase Deficiency" EXACT [] xref: MESH:C535830 xref: RDO:0001155 is_a: DOID:10892 ! hypospadias is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:9001562 name: Ring Chromosome 4 Syndrome synonym: "Ring 4, Chromosome" EXACT [] xref: MESH:C537636 xref: RDO:0003512 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9001563 name: Monocyte Chemotactic Disorder alt_id: MIM:252250 xref: MESH:C565371 is_a: DOID:2914 ! immune system disease [Term] id: DOID:9001564 name: Vibrio Infections def: "Infections with bacteria of the genus VIBRIO." [MESH:D014735] synonym: "Vibrio Infection" EXACT [] synonym: "Vibrio infectious disease" EXACT [] xref: EFO:1001235 xref: MESH:D014735 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9001565 name: Unilateral Adactylia alt_id: MIM:102650 synonym: "Unilateral Terminal Transverse Defects of Hand" EXACT [] xref: MESH:C562417 is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9001566 name: Atrophia Maculosa Varioliformis Cutis, Familial alt_id: MIM:601341 synonym: "AMVC" EXACT [] synonym: "Varioliform Macular Atrophy of the Skin" EXACT [] xref: MESH:C563349 is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9001567 name: Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency alt_id: RDO:0014036 xref: MESH:C565387 is_a: DOID:9000454 ! Methylmalonyl-CoA Epimerase Deficiency [Term] id: DOID:9001568 name: Familial Antiphospholipid Syndrome alt_id: MIM:107320 synonym: "Lupus anticoagulant, familial" EXACT [] xref: MESH:C531622 is_a: DOID:225 ! syndrome is_a: DOID:2988 ! antiphospholipid syndrome [Term] id: DOID:9001570 name: Epidermodysplasia Verruciformis 4 synonym: "epidermodysplasia verruciformis, susceptibility to, 4" EXACT [] synonym: "EV4" EXACT [] xref: MIM:618307 is_a: DOID:13777 ! epidermodysplasia verruciformis created_by: mtutaj creation_date: 2019-02-13T00:00:00Z [Term] id: DOID:9001571 name: Tooth Mobility def: "Horizontal and, to a lesser degree, axial movement of a tooth in response to normal forces, as in occlusion. It refers also to the movability of a tooth resulting from loss of all or a portion of its attachment and supportive apparatus, as seen in periodontitis, occlusal trauma, and periodontosis. (From Jablonski, Dictionary of Dentistry, 1992, p507 & Boucher's Clinical Dental Terminology, 4th ed, p313)" [MESH:D014086] synonym: "Tooth Mobilities" EXACT [] xref: MESH:D014086 is_a: DOID:3388 ! periodontal disease [Term] id: DOID:9001572 name: Hairy Palms and Soles alt_id: MIM:139650 synonym: "Circumscribed hairy dysembryoplasia of palms" EXACT [] synonym: "Hairy cutaneous malformations of palms and soles" EXACT [] synonym: "Thickened hair-bearing skin on the palms of both hands" EXACT [] xref: MESH:C535620 is_a: DOID:421 ! hair disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9001573 name: Experimental Liver Cirrhosis alt_id: RDO:0006022 def: "Experimentally induced chronic injuries to the parenchymal cells in the liver to achieve a model for LIVER CIRRHOSIS." [MESH:D008106] synonym: "Experimental Hepatic Cirrhosis" EXACT [] synonym: "Experimental Hepatic Fibrosis" EXACT [] synonym: "Experimental Liver Cirrhoses" EXACT [] xref: MESH:D008106 is_a: DOID:5082 ! liver cirrhosis [Term] id: DOID:9001574 name: Crystalline Aculeiform Cataract alt_id: RDO:0014601 synonym: "aculeiform cataract" EXACT [] xref: MESH:C566162 is_a: DOID:0110234 ! cataract 4 multiple types [Term] id: DOID:9001575 name: IRIS COLOBOMA def: "This is an eye disease characterized by missing pieces of tissue in structures that form the iris." [DOID:12270] xref: HP:0000612 xref: MP:0010714 is_a: DOID:12270 ! coloboma created_by: slaulede creation_date: 2022-12-12T12:03:37Z [Term] id: DOID:9001576 name: CARDIAC VALVULAR DYSPLASIA 2 def: "This disease is characterized primarily by congenital stenosis and insufficiency of the semilunar valves." [MIM:620067] synonym: "CVDP2" EXACT [] xref: MIM:620067 is_a: DOID:9007172 ! Cardiac Valvular Dysplasia created_by: slaulede creation_date: 2022-12-05T11:57:47Z [Term] id: DOID:9001577 name: Infantile Hypertrophic Pyloric Stenosis 2 alt_id: MIM:610260 synonym: "IHPS2" EXACT [] xref: MESH:C565208 is_a: DOID:12638 ! hypertrophic pyloric stenosis [Term] id: DOID:9001578 name: Alcohol Induced Encephalopathy synonym: "Korsakoff's amnesic syndrome" EXACT [] synonym: "Transketolase defect" EXACT [] xref: MESH:C538669 is_a: DOID:9008602 ! Alcohol Amnestic Disorder [Term] id: DOID:9001579 name: Neurogenic Inflammation def: "Inflammation caused by an injurious stimulus of peripheral neurons and resulting in release of neuropeptides which affect vascular permeability and help initiate proinflammatory and immune reactions at the site of injury." [MESH:D020078] synonym: "Neurogenic Inflammations" EXACT [] xref: MESH:D020078 is_a: DOID:9003814 ! Neurologic Manifestations is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9001580 name: Cyclic Vomiting Syndrome alt_id: MIM:500007 synonym: "cyclical vomiting" EXACT [] synonym: "cyclical vomiting syndrome" EXACT [] synonym: "familial cyclic vomiting syndrome" EXACT [] synonym: "periodic vomiting" EXACT [] xref: MESH:C536228 is_a: DOID:225 ! syndrome is_a: DOID:9008385 ! Vomiting [Term] id: DOID:9001581 name: Constipation alt_id: DOID:2089 def: "A bowel dysfunction that is characterized by infrequent or difficult evacuation of feces." [] comment: DO: reviewed 10/2022 & determined to be a symptom synonym: "Colonic Inertia" EXACT [] synonym: "Dyschezia" EXACT [] xref: ICD10CM:K59.0 xref: ICD9CM:564.0 xref: MESH:D003248 xref: NCI:C37930 is_a: DOID:9003977 ! Digestive Signs and Symptoms is_a: DOID:9779 ! bowel dysfunction created_by: mtutaj creation_date: 2022-11-01T12:19:25Z [Term] id: DOID:9001582 name: Bohring Syndrome alt_id: MIM:605039 synonym: "ASXL1-RELATED CONDITION" BROAD [] synonym: "Bohring-Opitz syndrome" EXACT [] synonym: "BOPS" EXACT [] synonym: "C-like syndrome" EXACT [] synonym: "Opitz trigonocephaly-like syndrome" EXACT [] xref: MESH:C537419 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9001583 name: Melanosis def: "Disorders of increased melanin pigmentation that develop without preceding inflammatory disease." [MESH:D008548] synonym: "Chloasma" EXACT [] synonym: "Chloasmas" EXACT [] synonym: "Freckle" EXACT [] synonym: "Freckles" EXACT [] synonym: "Melanism" EXACT [] synonym: "Melanoses" EXACT [] synonym: "Melasma" EXACT [] synonym: "Melasmas" EXACT [] xref: EFO:0003963 xref: MESH:D008548 is_a: DOID:9003984 ! Hyperpigmentation [Term] id: DOID:9001584 name: Cerebral Sarcoma alt_id: MIM:117600 synonym: "Familial cerebral sarcomas" EXACT [] xref: MESH:C537946 is_a: DOID:2132 ! brain sarcoma [Term] id: DOID:9001585 name: Intraventricular Hemorrhage def: "Bleeding into the ventricular system of the brain." [] synonym: "intraventricular bleeding" EXACT [] synonym: "IVH" EXACT [] synonym: "ventricular hemorrhage" EXACT [] xref: RDO:9001270 is_a: DOID:9002676 ! Cerebral Hemorrhage created_by: rgd creation_date: 2016-10-18T00:00:00Z [Term] id: DOID:9001586 name: Experimental Liver Neoplasms def: "Experimentally induced tumors of the LIVER." [MESH:D008114] synonym: "experimental hepatoma" EXACT [] synonym: "Experimental Hepatomas" EXACT [] synonym: "Experimental Liver Neoplasm" EXACT [] synonym: "Morris Hepatoma" EXACT [] synonym: "Novikoff hepatoma" EXACT [] xref: MESH:D008114 is_a: DOID:9002170 ! Experimental Neoplasms is_a: DOID:9007188 ! Liver Neoplasms [Term] id: DOID:9001587 name: Bone Marrow Failure Syndrome 1 synonym: "BMFF" EXACT [] synonym: "BMFS1" EXACT [] synonym: "BONE MARROW FAILURE, FAMILIAL" EXACT [] synonym: "SRP72-RELATED CONDITION" EXACT [] xref: MIM:614675 is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:12449 ! aplastic anemia is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes [Term] id: DOID:9001588 name: Electric Injuries def: "Injuries caused by electric currents. The concept excludes electric burns (BURNS, ELECTRIC), but includes accidental electrocution and electric shock." [MESH:D004556] synonym: "Accidental Electrocution" EXACT [] synonym: "Accidental Electrocutions" EXACT [] synonym: "Electric Injury" EXACT [] xref: MESH:D004556 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001589 name: Feingold Syndrome 2 synonym: "brachydactyly with short stature and microcephaly" EXACT [] synonym: "FGLDS2" EXACT [] xref: MIM:614326 is_a: DOID:0060464 ! Feingold syndrome [Term] id: DOID:9001591 name: Ciliary Motility Disorders def: "Conditions caused by abnormal CILIA movement in the body, usually causing KARTAGENER SYNDROME, chronic respiratory disorders, chronic SINUSITIS, and chronic OTITIS. Abnormal ciliary beating is likely due to defects in any of the 200 plus ciliary proteins, such as missing motor enzyme DYNEIN arms." [MESH:D002925] synonym: "ciliary dyskinesia" EXACT [] synonym: "ciliary dyskinesias" EXACT [] synonym: "ciliary motility disorder" EXACT [] synonym: "ICS" EXACT [] synonym: "immotile cilia syndrome" EXACT [] synonym: "immotile cilia syndromes" EXACT [] xref: MESH:D002925 is_a: DOID:0060340 ! ciliopathy is_a: DOID:1579 ! respiratory system disease is_a: DOID:9007241 ! Otorhinolaryngologic Diseases [Term] id: DOID:9001592 name: Pathological Protein Aggregation def: "A biochemical phenomenon in which misfolded proteins aggregate either intra- or extracellularly. Triggered by factors such as MUTATION, POST-TRANSLATIONAL MODIFICATIONS, and environmental stress, it is generally associated with ALZHEIMER'S DISEASE; PARKINSON'S DISEASE; HUNTINGTON'S DISEASE; and TYPE 2 DIABETES MELLITUS." [MESH:D066263] xref: MESH:D066263 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9001593 name: Congenital Keratoconjunctivitis Sicca and Ichthyosiform Dermatosis xref: OMIA:001683 is_a: DOID:12895 ! keratoconjunctivitis sicca created_by: rgd creation_date: 2017-03-14T00:00:00Z [Term] id: DOID:9001594 name: Paucibacillary Leprosy def: "A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with paucibacillary leprosy have fewer than six skin lesions with no causative agent MYCOBACTERIUM LEPRAE on any slit-skin smear testing. Paucibacillary leprosy encompasses indeterminate, borderline tuberculoid, and tuberculoid leprosy." [MESH:D056005] synonym: "Borderline Tuberculoid" EXACT [] synonym: "Borderline Tuberculoids" EXACT [] synonym: "Indeterminate Tuberculoid" EXACT [] synonym: "Indeterminate Tuberculoids" EXACT [] synonym: "Paucibacillary Leprosies" EXACT [] xref: EFO:1001358 xref: MESH:D056005 is_a: DOID:1024 ! leprosy [Term] id: DOID:9001595 name: Lethal Congenital Contracture Syndrome 6 alt_id: RDO:9001626 synonym: "LCCS6" EXACT [] xref: MIM:616248 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:9001596 name: Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development synonym: "ACCIID" EXACT [] synonym: "PPP3CA-RELATED CONDITION" BROAD [] xref: MIM:618265 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:2340 ! craniosynostosis is_a: DOID:674 ! cleft palate is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2019-02-13T12:22:20Z [Term] id: DOID:9001598 name: Odontoma def: "A mixed tumor of odontogenic origin, in which both the epithelial and mesenchymal cells exhibit complete differentiation, resulting in the formation of tooth structures. (Jablonski, Illustrated Dictionary of Dentistry, 1982)" [MESH:D009810] synonym: "Ameloblastic Fibro-odontoma" EXACT [] synonym: "Ameloblastic Fibro-odontomas" EXACT [] synonym: "Compound Odontoma" EXACT [] synonym: "Compound Odontomas" EXACT [] synonym: "Fibro Odontoma" EXACT [] synonym: "Fibroodontoma" EXACT [] synonym: "Fibro-Odontomas" EXACT [] synonym: "Fibroodontomas" EXACT [] synonym: "Odontomas" EXACT [] xref: MESH:D009810 is_a: DOID:9006134 ! Odontogenic Tumors [Term] id: DOID:9001599 name: Oocyte/Zygote/Embryo Maturation Arrest 6 def: "Oocyte maturation defect-6 (OOMD6) is characterized by primary infertility due to defective sperm-binding to an abnormally thin zona pellucida in patient oocytes. Successful pregnancy may be achieved by intracytoplasmic sperm injection in these patients. OOMD6 is caused by homozygous mutation in the ZP2 gene on chromosome 16p12. (OMIM)" [] synonym: "Oocyte Maturation Defect 6" EXACT [] synonym: "OOMD6" EXACT [] synonym: "OZEMA6" EXACT [] xref: MIM:618353 is_a: DOID:9007456 ! Female Infertility created_by: gthayman creation_date: 2019-03-12T11:52:33Z [Term] id: DOID:9001600 name: Wounds and Injuries def: "Damage inflicted on the body as the direct or indirect result of an external force, with or without disruption of structural continuity." [MESH:D014947] subset: RGD_JBrowse_slim synonym: "Injuries" EXACT [] synonym: "Injuries, Wounds" EXACT [] synonym: "Injury" EXACT [] synonym: "Injury and Wounds" EXACT [] synonym: "nose injury" NARROW [] synonym: "Research Related Injuries" EXACT [] synonym: "Research-Related Injury" EXACT [] synonym: "Trauma" EXACT [] synonym: "Traumas" EXACT [] synonym: "Wound" EXACT [] synonym: "Wounds" EXACT [] synonym: "Wounds, Injury" EXACT [] xref: EFO:0000546 xref: EFO:0009623 xref: MESH:D014947 is_a: DOID:4 ! disease [Term] id: DOID:9001602 name: Pulmonary Adenomatosis def: "A neoplastic disease in which the alveoli and distal bronchi are filled with mucus and mucus-secreting columnar epithelial cells. It is characterized by abundant, extremely tenacious sputum, chills, fever, cough, dyspnea, and pleuritic pain. (Stedman, 25th ed)" [MESH:D018255] synonym: "Pulmonary Adenomatoses" EXACT [] xref: EFO:1001258 xref: MESH:D018255 is_a: DOID:5386 ! lung adenoma [Term] id: DOID:9001603 name: Hypertriglyceridemia, Transient Infantile synonym: "GPD1-RELATED CONDITION" EXACT [] synonym: "HTGTI" EXACT [] xref: MIM:614480 xref: MONDO:0013771 xref: ORDO:300293 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9006599 ! Hypertriglyceridemia [Term] id: DOID:9001604 name: Sexual Infantilism def: "The permanent lack of SEXUAL DEVELOPMENT in an individual. This defect is usually observed at an age after expected PUBERTY." [MESH:D050035] synonym: "Genital Infantilism" EXACT [] xref: MESH:D050035 xref: RDO:0007565 is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:1924 ! hypogonadism [Term] id: DOID:9001605 name: Postaxial Polydactyly, Type A2 alt_id: MIM:602085 alt_id: RDO:0014900 synonym: "Papa2" EXACT [] xref: MESH:C566585 is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9001606 name: Acute Anterior Uveitis def: "Having a sudden onset, sharp rise, and short course of anterior uveitis." [] synonym: "AAU" EXACT [] is_a: DOID:1407 ! anterior uveitis is_a: DOID:9005171 ! Acute Uveitis [Term] id: DOID:9001607 name: Hypopharyngeal Neoplasms def: "Tumors or cancer of the HYPOPHARYNX." [MESH:D007012] synonym: "hypopharyngeal neoplasm" EXACT [] synonym: "hypopharyngeal tumor" EXACT [] synonym: "hypopharynx neoplasm" EXACT [] xref: MESH:D007012 xref: NCI:C3127 is_a: DOID:9002346 ! Pharyngeal Neoplasms [Term] id: DOID:9001609 name: Myopathy due to Malate-Aspartate Shuttle Defect alt_id: MIM:254960 xref: MESH:C564973 is_a: DOID:423 ! myopathy is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9001610 name: Lung Damage, Immunodeficiency and Chromosome Breakage Syndrome synonym: "LICS" EXACT [] synonym: "lung disease, immunodeficiency, and chromosome breakage syndrome" EXACT [] xref: MIM:617241 is_a: DOID:225 ! syndrome is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:850 ! lung disease is_a: DOID:9000310 ! Lung Injury is_a: DOID:9004203 ! Chromosome Breakage is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:9001611 name: Urogenital Abnormalities alt_id: MESH:C564424 alt_id: MIM:305690 def: "Congenital structural abnormalities of the UROGENITAL SYSTEM in either the male or the female." [MESH:D014564] synonym: "Genitourinary Abnormalities" EXACT [] synonym: "Genitourinary Abnormality" EXACT [] synonym: "genitourinary tract anomalies" EXACT [] synonym: "INHERITED GENITOURINARY TRACT ANOMALIES" EXACT [] synonym: "urogenital abnormality" EXACT [] xref: MESH:D014564 is_a: DOID:9005835 ! Congenital Abnormalities is_a: DOID:9009146 ! Urogenital Diseases [Term] id: DOID:9001614 name: Chronic Tubulointerstitial Nephropathy alt_id: MIM:551200 synonym: "tubulointerstitial nephropathy" EXACT [] xref: MESH:C564016 is_a: DOID:1063 ! interstitial nephritis [Term] id: DOID:9001615 name: Maxillary Sinus Neoplasms def: "Tumors or cancer of the MAXILLARY SINUS. They represent the majority of paranasal neoplasms." [MESH:D008444] synonym: "maxillary sinus neoplasm" EXACT [] synonym: "neoplasm of maxillary sinus" EXACT [] synonym: "tumor of maxillofacial sinus" EXACT [] xref: EFO:1001035 xref: MESH:D008444 xref: NCI:C3219 is_a: DOID:9000118 ! Paranasal Sinus Neoplasms created_by: mtutaj creation_date: 2020-04-21T07:56:39Z [Term] id: DOID:9001616 name: Port-Wine Stain def: "A vascular malformation of developmental origin characterized pathologically by ectasia of superficial dermal capillaries, and clinically by persistent macular erythema. In the past, port wine stains have frequently been termed capillary hemangiomas, which they are not; unfortunately this confusing practice persists: HEMANGIOMA, CAPILLARY is neoplastic, a port-wine stain is non-neoplastic. Port-wine stains vary in color from fairly pale pink to deep red or purple and in size from a few millimeters to many centimeters in diameter. The face is the most frequently affected site and they are most often unilateral. (From Rook et al., Textbook of Dermatology, 5th ed, p483)" [MESH:D019339] synonym: "Nevus Flammeus" EXACT [] synonym: "Port-Wine Stains" EXACT [] xref: MESH:D019339 xref: RDO:0001132 is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9001617 name: Congenital Nephrotic Syndrome with or without Ocular Abnormalities alt_id: RDO:0012970 xref: MESH:C563805 is_a: DOID:2590 ! familial nephrotic syndrome is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9001619 name: Congenital Deafness with Total Albinism alt_id: MIM:220900 xref: MESH:C565646 is_a: DOID:0050632 ! oculocutaneous albinism is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:9001620 name: Leukoaraiosis def: "Non-specific white matter changes in the BRAIN, often seen after age 65. Changes include loss of AXONS; MYELIN pallor, GLIOSIS, loss of ependymal cells, and enlarged perivascular spaces. Leukoaraiosis is a risk factor for DEMENTIA and CEREBROVASCULAR DISORDERS." [MESH:D049292] synonym: "Leukoaraioses" EXACT [] xref: MESH:D049292 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9001621 name: Focal Segmental Glomerulosclerosis 4 synonym: "END-STAGE RENAL DISEASE, NONDIABETIC, SUSCEPTIBILITY TO" RELATED [] synonym: "Focal Segmental Glomerulosclerosis 4, Susceptibility to" RELATED [] synonym: "FSGS4" EXACT [] xref: MIM:612551 is_a: DOID:1312 ! focal segmental glomerulosclerosis [Term] id: DOID:9001622 name: Chiari-Frommel Syndrome def: "A POSTPARTUM condition consists of persistent lactation (GALACTORRHEA) and AMENORRHEA in patients not BREAST FEEDING." [MESH:D002640] synonym: "Frommel's disease" EXACT [] synonym: "Frommel disease" EXACT [] xref: MESH:D002640 is_a: DOID:12700 ! hyperprolactinemia is_a: DOID:225 ! syndrome is_a: DOID:9002090 ! Galactorrhea [Term] id: DOID:9001623 name: JOINT LAXITY, SHORT STATURE, AND MYOPIA synonym: "GZF1-RELATED CONDITION" EXACT [] synonym: "JLSM" EXACT [] xref: MIM:617662 is_a: DOID:11830 ! myopia is_a: DOID:9005077 ! Joint Instability is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:9001626 name: Chromosome 17 Deletion synonym: "17p- Syndrome" EXACT [] synonym: "Chromosome 17p Deletion Syndrome" EXACT [] synonym: "Deletion 17p Syndrome" EXACT [] synonym: "Interstitial deletion 17p" EXACT [] synonym: "Partial Monosomy 17p" EXACT [] xref: MESH:C538045 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:9001627 name: Pathologic Constriction def: "The condition of an anatomical structure's being constricted beyond normal dimensions." [MESH:D003251] synonym: "pathological constriction" EXACT [] synonym: "pathologic constrictions" EXACT [] synonym: "Stenoses" EXACT [] synonym: "Stenosis" EXACT [] synonym: "stricture" EXACT [] synonym: "strictures" EXACT [] xref: EFO:0006818 xref: MESH:D003251 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9001628 name: Bilateral Atresia of External Auditory Canal with Congenital Vertical Talus alt_id: MIM:108760 synonym: "Atresia of External Auditory Canal and Conduction Deafness" EXACT [] xref: MESH:C566245 is_a: DOID:9588 ! encephalitis [Term] id: DOID:9001629 name: 5 Alpha Fluorouracil Toxicity xref: MESH:C531667 xref: RDO:0000098 is_a: DOID:14218 ! dihydropyrimidine dehydrogenase deficiency [Term] id: DOID:9001630 name: Allesthesia def: "A neurological disorder in which a sensory stimulus, usually tactile but more rarely other sensory modalities, is misperceived in a location distant from the original stimulus." [MESH:D066190] synonym: "Allachesthesia" EXACT [] synonym: "Allachesthesias" EXACT [] synonym: "Allesthesias" EXACT [] synonym: "Allochiria" EXACT [] synonym: "Allochirias" EXACT [] synonym: "Alloesthesia" EXACT [] synonym: "Alloesthesias" EXACT [] synonym: "Dyschiria" EXACT [] synonym: "Dyschirias" EXACT [] xref: MESH:D066190 xref: MONDO:0024430 is_a: DOID:9004523 ! Perceptual Disorders [Term] id: DOID:9001631 name: Hypochromic Microcytic Anemia with Iron Overload synonym: "microcytic anemia and hepatic iron overload" EXACT [] synonym: "microcytic anemia with liver iron overload" EXACT [] xref: MESH:C567144 xref: MIM:PS206100 is_a: DOID:0050642 ! hypochromic microcytic anemia created_by: mtutaj creation_date: 2019-03-21T12:43:52Z [Term] id: DOID:9001633 name: Chromosome 4, Trisomy 4q32.1-q32.2 synonym: "Chromosome 4q32.1-q32.2 triplication syndrome" EXACT [] xref: MIM:613603 is_a: DOID:9003960 ! Trisomy created_by: mtutaj creation_date: 2022-12-12T12:10:31Z [Term] id: DOID:9001634 name: Meckel Syndrome 9 synonym: "Meckel Syndrome, Type 9" EXACT [] synonym: "MKS9" EXACT [] xref: MIM:614209 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:9001635 name: Immunodeficiency 93 def: "An autosomal recessive disorder characterized by onset of recurrent viral and bacterial infections, particularly with encapsulated bacteria, and hypertrophic cardiomyopathy in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the FNIP1 gene on chromosome 5q31." [MIM:619705] synonym: "IMD93" EXACT [] synonym: "immunodeficiency 93 and hypertrophic cardiomyopathy" EXACT [] xref: MIM:619705 is_a: DOID:11984 ! hypertrophic cardiomyopathy is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2022-01-27T09:54:19Z [Term] id: DOID:9001636 name: Darier Disease, Segmental xref: MESH:C565126 is_a: DOID:2734 ! keratosis follicularis [Term] id: DOID:9001637 name: Malignant Neurogenic Muscular Atrophy alt_id: MIM:158650 xref: MESH:C563559 is_a: DOID:767 ! muscular atrophy [Term] id: DOID:9001638 name: Seborrhea-Like Dermatitis with Psoriasiform Elements alt_id: MIM:610227 xref: MESH:C565217 is_a: DOID:2723 ! dermatitis [Term] id: DOID:9001639 name: Knobloch Syndrome Type III xref: MESH:C548031 is_a: DOID:9002033 ! Knobloch Syndrome [Term] id: DOID:9001640 name: X Chromosome, Duplication Xq13 1 q21 1 synonym: "Duplication Xq13 1 q21 1" EXACT [] synonym: "Trisomy Xq13 1 q21 1" EXACT [] xref: MESH:C536753 xref: RDO:0002433 is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9001641 name: Pedal Onychogryposis with Keratosis Plantaris and Coarse Hair alt_id: MIM:164680 xref: MESH:C563506 is_a: DOID:4123 ! nail disease is_a: DOID:421 ! hair disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9001642 name: Intestinal Polyps def: "Discrete abnormal tissue masses that protrude into the lumen of the INTESTINE. A polyp is attached to the intestinal wall either by a stalk, pedunculus, or by a broad base." [MESH:D007417] synonym: "Appendix Hyperplastic Polyp" NARROW [] synonym: "Colorectal Juvenile Polyp" NARROW [] synonym: "Intestinal Polyp" EXACT [] synonym: "Rectal Hyperplastic Polyp" NARROW [] xref: EFO:0003855 xref: EFO:1000091 xref: EFO:1000194 xref: EFO:1000502 xref: MESH:D007417 xref: MONDO:0021392 is_a: DOID:9003896 ! Polyps [Term] id: DOID:9001643 name: CD59 Deficiency alt_id: MIM:612300 synonym: "HACD59" EXACT [] synonym: "HEMOLYTIC ANEMIA, CD59-MEDIATED, WITH OR WITHOUT IMMUNE-MEDIATED POLYNEUROPATHY" EXACT [] xref: MESH:C567355 xref: RDO:0015446 is_a: DOID:582 ! hemoglobinuria is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:9001644 name: Familial Acne Inversa 2 synonym: "ACNINV2" EXACT [] synonym: "familial acne inversa 2, with or without Dowling-Degos disease" EXACT [] xref: MIM:613736 xref: MONDO:0013397 is_a: DOID:9008895 ! Familial Hidradenitis Suppurativa created_by: mtutaj creation_date: 2021-07-16T16:05:13Z [Term] id: DOID:9001645 name: Coronaviridae Infections alt_id: MIM:122460 def: "Virus diseases caused by CORONAVIRIDAE." [MESH:D003333] synonym: "Coronaviridae Infection" EXACT [] synonym: "Coronaviridae infectious disease" EXACT [] synonym: "CORONAVIRUS 229E SUSCEPTIBILITY" EXACT [] synonym: "CVS" EXACT [] synonym: "HCVS" EXACT [] synonym: "HUMAN CORONAVIRUS SENSITIVITY" EXACT [] xref: EFO:0007223 xref: MESH:D003333 xref: RDO:0005282 is_a: DOID:9008504 ! Nidovirales Infections [Term] id: DOID:9001646 name: Specific Language Impairment 3 synonym: "SLI3" EXACT [] xref: MIM:607134 is_a: DOID:0060244 ! specific language impairment [Term] id: DOID:9001647 name: HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS synonym: "HPPD" EXACT [] xref: MIM:614187 xref: RDO:0010100 is_a: DOID:13929 ! lacrimal duct obstruction is_a: DOID:2742 ! auditory system disease is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9008681 ! Deafness [Term] id: DOID:9001648 name: Methylenetetrahydrofolate Reductase Deficiency synonym: "GENERALIZED CEREBRAL ATROPHY/HYPOPLASIA" EXACT [] synonym: "HOMOCYSTEINEMIA DUE TO MTHFR DEFICIENCY" EXACT [] synonym: "HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY" EXACT [] synonym: "Homocystinuria due to MTHFR Deficiency" EXACT [] synonym: "MTHFR DEFICIENCY MTHFR DEFICIENCY, THERMOLABILE TYPE" NARROW [] xref: MESH:C537357 xref: MIM:236250 xref: MONDO:0009353 xref: NCI:C84524 is_a: DOID:2468 ! psychotic disorder is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9263 ! homocystinuria [Term] id: DOID:9001649 name: Infantile Cataract, Skin Abnormalities, Glutamate Excess, and Impaired Intellectual Development def: "Aside from the clinical features of infantile cataract, skin abnormalities, and impaired intellectual development, CASGID is characterized by strikingly high intracerebral and urinary glutamate excess with almost undetectable glutamine. A gain-of-function mutation in the glutaminase (GLS) gene was found. GLS loss of function is implicated in a form of neonatal epileptic encephalopathy (EIEE71) and a syndrome of global developmental delay and progressive ataxia (GDPAG). (OMIM)" [] synonym: "CASGID" EXACT [] xref: MIM:618339 is_a: DOID:1059 ! intellectual disability is_a: DOID:83 ! cataract is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9252 ! amino acid metabolic disorder created_by: mtutaj creation_date: 2019-02-26T07:55:13Z [Term] id: DOID:9001650 name: Pregnancy-Induced Hypertension def: "A condition in pregnant women with elevated systolic (>140 mm Hg) and diastolic (>90 mm Hg) blood pressure on at least two occasions 6 h apart. HYPERTENSION complicates 8-10% of all pregnancies, generally after 20 weeks of gestation. Gestational hypertension can be divided into several broad categories according to the complexity and associated symptoms, such as EDEMA; PROTEINURIA; SEIZURES; abnormalities in BLOOD COAGULATION and liver functions." [MESH:D046110] synonym: "gestational hypertension" EXACT [] synonym: "PIH" EXACT [] synonym: "pregnancy-induced hypertension, susceptibility to" RELATED [] synonym: "Pregnancy Transient Hypertension" EXACT [] xref: MESH:D046110 xref: MONDO:0024664 is_a: DOID:10763 ! hypertension is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9001651 name: Piussan Lenaerts Mathieu syndrome synonym: "Thumb ankylosis with mental retardation" EXACT [] xref: MESH:C537511 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:227 ! ankylosis [Term] id: DOID:9001652 name: Calcium Oxalate Nephrolithiasis 1 def: "A calcium oxalate nephrolithiasis caused by compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16." [] synonym: "CAON1" EXACT [] xref: MIM:167030 is_a: DOID:0080652 ! calcium oxalate nephrolithiasis created_by: mtutaj creation_date: 2023-05-30T14:39:56Z [Term] id: DOID:9001653 name: Nocturia def: "Frequent URINATION at night that interrupts sleep. It is often associated with outflow obstruction, DIABETES MELLITUS, or bladder inflammation (CYSTITIS)." [MESH:D053158] synonym: "Nycturia" EXACT [] xref: MESH:D053158 is_a: DOID:9003962 ! Lower Urinary Tract Symptoms [Term] id: DOID:9001654 name: Colonic Atresia alt_id: MIM:303650 xref: MESH:C562562 is_a: DOID:10486 ! intestinal atresia [Term] id: DOID:9001655 name: GSD IV, Neuromuscular Form, Childhood xref: MESH:C565543 xref: RDO:0014151 is_a: DOID:2750 ! glycogen storage disease IV is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:9001656 name: Alien Hand Syndrome def: "An apraxia characterized by the affected limb having involuntary, autonomous, and purposeful behaviors that are perceived as being controlled by an external force. Often the affected limb interferes with the actions of the normal limb. Symptoms develop from lesions in the CORPUS CALLOSUM or medial frontal cortex, stroke, infarction, and neurodegenerative diseases (e.g., CREUTZFELDT-JAKOB SYNDROME, corticobasal degeneration)." [MESH:D055964] synonym: "Alien Hand Syndromes" EXACT [] synonym: "Anarchic Hand Syndrome" EXACT [] synonym: "Anarchic Hand Syndromes" EXACT [] xref: EFO:1001261 xref: MESH:D055964 is_a: DOID:0060135 ! apraxia is_a: DOID:225 ! syndrome [Term] id: DOID:9001657 name: Sertoli Cell-Only Syndrome, Type II alt_id: RDO:0013131 xref: MESH:C564032 is_a: DOID:0050457 ! Sertoli cell-only syndrome [Term] id: DOID:9001659 name: limb reperfusion injury def: "This is adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to one or more limbs, including swelling; hemorrhage; necrosis; and damage from free radicals. A limb is a paired appendage that is evolved from a paired fin." [PMID:36495512, UBERON:0002101] synonym: "forelimb reperfusion injury" NARROW [] synonym: "hindlimb reperfusion injury" NARROW [] is_a: DOID:9004009 ! Reperfusion Injury relationship: has_component DOID:0050852 ! limb ischemia created_by: slaulede creation_date: 2023-08-03T15:35:52Z [Term] id: DOID:9001660 name: Digeorge Syndrome/Velocardiofacial Syndrome Complex 2 alt_id: MIM:601362 synonym: "DGS2" EXACT [] xref: MESH:C563337 is_a: DOID:11198 ! DiGeorge syndrome [Term] id: DOID:9001661 name: Taste Disorders def: "Conditions characterized by an alteration in gustatory function or perception. Taste disorders are frequently associated with OLFACTION DISORDERS. Additional potential etiologies include METABOLIC DISEASES; DRUG TOXICITY; and taste pathway disorders (e.g., TASTE BUD diseases; FACIAL NERVE DISEASES; GLOSSOPHARYNGEAL NERVE DISEASES; and BRAIN STEM diseases)." [MESH:D013651] synonym: "Metallic Taste" EXACT [] synonym: "Metallic Tastes" EXACT [] synonym: "Primary Taste Disorder" EXACT [] synonym: "Primary Taste Disorders" EXACT [] synonym: "Secondary Taste Disorder" EXACT [] synonym: "Secondary Taste Disorders" EXACT [] synonym: "Taste Disorder" EXACT [] synonym: "Taste Disorder, Anterior Tongue" EXACT [] synonym: "Taste Disorder, Posterior Tongue" EXACT [] synonym: "Taste Disorder, Primary, Bitter" EXACT [] synonym: "Taste Disorder, Primary, Salt" EXACT [] synonym: "Taste Disorder, Primary, Sweet" EXACT [] synonym: "Taste Disorder, Secondary, Bitter" EXACT [] synonym: "Taste Disorder, Secondary, Salt" EXACT [] synonym: "Taste Disorder, Secondary, Sweet" EXACT [] xref: MESH:D013651 is_a: DOID:0050155 ! sensory system disease [Term] id: DOID:9001662 name: Infratentorial Neoplasms def: "Intracranial tumors originating in the region of the brain inferior to the tentorium cerebelli, which contains the cerebellum, fourth ventricle, cerebellopontine angle, brain stem, and related structures. Primary tumors of this region are more frequent in children, and may present with ATAXIA; CRANIAL NERVE DISEASES; vomiting; HEADACHE; HYDROCEPHALUS; or other signs of neurologic dysfunction. Relatively frequent histologic subtypes include TERATOMA; MEDULLOBLASTOMA; GLIOBLASTOMA; ASTROCYTOMA; EPENDYMOMA; CRANIOPHARYNGIOMA; and choroid plexus papilloma (PAPILLOMA, CHOROID PLEXUS)." [MESH:D015192] synonym: "benign infratentorial neoplasm" EXACT [] synonym: "benign infratentorial neoplasms" EXACT [] synonym: "Infratentorial Neoplasm" EXACT [] synonym: "Infratentorial Tumor" EXACT [] synonym: "Infratentorial Tumors" EXACT [] synonym: "Malignant Infratentorial Neoplasm" EXACT [] synonym: "Malignant Infratentorial Neoplasms" EXACT [] synonym: "Posterior Fossa Neoplasm" EXACT [] synonym: "Posterior Fossa Neoplasms" EXACT [] synonym: "Posterior Fossa Tumor" EXACT [] synonym: "Posterior Fossa Tumors" EXACT [] xref: MESH:D015192 is_a: DOID:9007502 ! Brain Neoplasms [Term] id: DOID:9001663 name: Twinning due to Superfetation alt_id: MIM:191250 synonym: "Superfetation Twinning" EXACT [] xref: MESH:C566018 is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9001664 name: OCULOGASTROINTESTINAL NEURODEVELOPMENTAL SYNDROME def: "This is a disease characterized by microphthalmia and/or coloboma in association with other congenital anomalies, including imperforate anus, horseshoe kidney, astructural cardiac defects, deafness, and severe developmental delay." [MIM:619318] synonym: "OGIN" EXACT [] xref: MIM:619318 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008296 ! Eye Abnormalities created_by: slaulede creation_date: 2021-06-18T11:16:56Z [Term] id: DOID:9001665 name: Aneurysm def: "Pathological outpouching or sac-like dilatation in the wall of any blood vessel (ARTERIES or VEINS) or the heart (HEART ANEURYSM). It indicates a thin and weakened area in the wall which may later rupture. Aneurysms are classified by location, etiology, or other characteristics." [MESH:D000783] synonym: "Aneurysms" EXACT [] synonym: "Fusiform Aneurysm" EXACT [] synonym: "Fusiform Aneurysms" EXACT [] synonym: "Saccular Aneurysm" EXACT [] xref: EFO:0009659 xref: MESH:D000783 is_a: DOID:178 ! vascular disease [Term] id: DOID:9001666 name: Acanthocheilonemiasis def: "A tropical infectious disease found mainly in Africa that is caused by the filarial parasite ACANTHOCHEILONEMA. Symptoms include skin rashes, abdominal, chest, muscle, and joint pains, neurologic disorders, skin lumps, and elevated levels of white blood cells. The parasite is transmitted through the bite of small flies." [MESH:D063485] synonym: "Acanthocheilonemiases" EXACT [] xref: MESH:D063485 xref: RDO:0012119 is_a: DOID:1080 ! filariasis [Term] id: DOID:9001667 name: Finger Injuries def: "General or unspecified injuries involving the fingers." [MESH:D005383] synonym: "Finger Injury" EXACT [] xref: MESH:D005383 xref: RDO:0005606 is_a: DOID:9004317 ! Hand Injuries [Term] id: DOID:9001668 name: Familial Horizontal Gaze Palsy with Progressive Scoliosis, 2 def: "HGPPS2 is caused by homozygous mutation in the DCC gene on chromosome 18q21. (OMIM)" [] synonym: "GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 2, WITH IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT [] synonym: "HGPPS2" EXACT [] xref: MIM:617542 xref: MONDO:0054602 is_a: DOID:9004787 ! Familial Horizontal Gaze Palsy with Progressive Scoliosis created_by: rgd creation_date: 2017-08-08T00:00:00Z [Term] id: DOID:9001669 name: Synovial Cyst def: "Non-neoplastic tumor-like lesions at joints, developed from the SYNOVIAL MEMBRANE of a joint through the JOINT CAPSULE into the periarticular tissues. They are filled with SYNOVIAL FLUID with a smooth and translucent appearance. A synovial cyst can develop from any joint, but most commonly at the back of the knee, where it is known as POPLITEAL CYST." [MESH:D013581] synonym: "Synovial Cysts" EXACT [] xref: MESH:D013581 is_a: DOID:9007583 ! Cysts [Term] id: DOID:9001670 name: Rajab Interstitial Lung Disease with Brain Calcifications 2 synonym: "RILDBC2" EXACT [] xref: MIM:619013 is_a: DOID:9001942 ! Rajab Interstitial Lung Disease with Brain Calcifications created_by: mtutaj creation_date: 2020-09-09T08:03:33Z [Term] id: DOID:9001672 name: pancolitis def: "This is an inflammatory bowel disease that involves the entire colon." [DOID:0060180, HP:0033256] synonym: "universal colitis" EXACT [] xref: EFO:0005626 is_a: DOID:0060180 ! colitis created_by: slaulede creation_date: 2023-01-24T14:24:27Z [Term] id: DOID:9001673 name: leptomeningeal metastasis def: "This is the transfer of a malignant neoplasm that has spread from its original site of growth to the leptomeninges around the brain or spinal cord." [EFO:1001012] synonym: "metastatic tumor to the Leptomeninges" EXACT [] xref: EFO:1001012 is_a: DOID:9000965 ! Neoplasm Metastasis is_a: DOID:9007166 ! Meningeal Neoplasms created_by: slaulede creation_date: 2022-09-12T13:25:33Z [Term] id: DOID:9001674 name: Hereditary Thermosensitive Neuropathy alt_id: MIM:602107 xref: MESH:C566575 is_a: DOID:2477 ! motor peripheral neuropathy [Term] id: DOID:9001676 name: Myopia 9 alt_id: MIM:609258 synonym: "MYP9" EXACT [] xref: MESH:C563759 is_a: DOID:11830 ! myopia [Term] id: DOID:9001677 name: Krauss Herman Holmes Syndrome synonym: "Telecanthus, hypertelorism, strabismus, and pes cavus syndrome" EXACT [] xref: MESH:C537618 is_a: DOID:10348 ! blepharophimosis is_a: DOID:225 ! syndrome is_a: DOID:540 ! strabismus is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9003938 ! Foot Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001678 name: Periventricular Nodular Heterotopia 7 def: "A neurologic disorder characterized by abnormal neuronal migration during brain development resulting in delayed psychomotor development and intellectual disability. (OMIM)" [] synonym: "NEDD4L-RELATED CONDITION" EXACT [] synonym: "Periventricular Nodular Heterotopia with Syndactyly, Cleft Palate and Developmental Delay" EXACT [] synonym: "PVNH7" EXACT [] xref: MIM:617201 is_a: DOID:0050454 ! periventricular nodular heterotopia is_a: DOID:11193 ! syndactyly is_a: DOID:674 ! cleft palate is_a: DOID:9008086 ! Developmental Disabilities created_by: rgd creation_date: 2016-12-06T00:00:00Z [Term] id: DOID:9001679 name: Collagenopathy, Type 2 Alpha 1 synonym: "Cartilage collagen" EXACT [] xref: MESH:C535964 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9001680 name: SHORT STATURE AND ADVANCED BONE AGE, WITH OR WITHOUT EARLY-ONSET OSTEOARTHRITIS AND/OR OSTEOCHONDRITIS DISSECANS synonym: "Familial Osteochondritis Dissecans" EXACT [] synonym: "OD" EXACT [] synonym: "OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS" NARROW [] synonym: "SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME" NARROW [] synonym: "SHORT STATURE AND ADVANCED BONE AGE" EXACT [] synonym: "SHORT STATURE AND ADVANCED BONE AGE, WITH EARLY-ONSET OSTEOARTHRITIS" NARROW [] synonym: "SSOAOD" EXACT [] xref: MESH:C580095 xref: MIM:165800 xref: MONDO:0100462 is_a: DOID:8398 ! osteoarthritis is_a: DOID:84 ! osteochondritis dissecans is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001681 name: Primrose Syndrome alt_id: MIM:259050 synonym: "ossified ear cartilages with mental deficiency, muscle wasting, and bony changes" EXACT [] synonym: "PRIMS" EXACT [] xref: MESH:C536420 is_a: DOID:1059 ! intellectual disability is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:2742 ! auditory system disease is_a: DOID:767 ! muscular atrophy is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001682 name: Nose Deformities, Acquired def: "Abnormalities of the nose acquired after birth from injury or disease." [MESH:D009667] synonym: "Acquired Nasal Deformities" EXACT [] synonym: "Acquired Nasal Deformity" EXACT [] synonym: "Acquired Nose Deformity" EXACT [] xref: MESH:D009667 xref: RDO:0000568 is_a: DOID:2825 ! nose disease [Term] id: DOID:9001683 name: Digestive System Abnormalities def: "Congenital structural abnormalities of the DIGESTIVE SYSTEM." [MESH:D004065] synonym: "Digestive System Abnormality" EXACT [] xref: MESH:D004065 xref: RDO:0000418 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9001684 name: Malformations of Cortical Development, Group III def: "Cortical malformations secondary to abnormal cortical maturation after CELL MIGRATION in NEUROGENESIS. This group includes injury to the cortex during later stages of cortical development such as POLYMICROGYRIA and focal cortical dysplasias." [MESH:D065704] synonym: "Cortical Malformations, Group III" EXACT [] synonym: "Malformations Due to Abnormal Postmigrational Development" EXACT [] synonym: "Malformations Secondary to Abnormal Postmigrational Development" EXACT [] xref: MESH:D065704 xref: RDO:0015981 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:9001685 name: Isolated Microphthalmia with Coloboma 6 synonym: "MCOPCB6" EXACT [] xref: MIM:613703 xref: MONDO:0013376 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma [Term] id: DOID:9001686 name: Acute Coronary Syndrome def: "An episode of MYOCARDIAL ISCHEMIA that generally lasts longer than a transient anginal episode that ultimately may lead to MYOCARDIAL INFARCTION." [MESH:D054058] synonym: "acute coronary syndromes" EXACT [] synonym: "factor XII polymorphism" RELATED [] xref: EFO:0005672 xref: MESH:D054058 is_a: DOID:225 ! syndrome is_a: DOID:9007102 ! Myocardial Ischemia [Term] id: DOID:9001687 name: Pubic Symphysis Diastasis def: "Separation of the PUBIC SYMPHYSIS. It is an uncommon complication of CHILDBIRTH causing postpartum PAIN, but it can also arise from other causes." [MESH:D046548] synonym: "Diastasis Symphysis Pubis" EXACT [] synonym: "Pubic Symphysis Diastases" EXACT [] synonym: "Symphysis Pubis Diastases" EXACT [] xref: EFO:1001833 xref: MESH:D046548 xref: RDO:0007531 is_a: DOID:9001791 ! Puerperal Disorders is_a: DOID:9007804 ! Diastasis, Bone [Term] id: DOID:9001689 name: Cerebellar Neoplasms def: "Primary or metastatic neoplasms of the CEREBELLUM. Tumors in this location frequently present with ATAXIA or signs of INTRACRANIAL HYPERTENSION due to obstruction of the fourth ventricle. Common primary cerebellar tumors include fibrillary ASTROCYTOMA and cerebellar HEMANGIOBLASTOMA. The cerebellum is a relatively common site for tumor metastases from the lung, breast, and other distant organs. (From Okazaki & Scheithauer, Atlas of Neuropathology, 1988, p86 and p141)" [MESH:D002528] synonym: "Benign Cerebellar Neoplasm" EXACT [] synonym: "benign cerebellar neoplasms" EXACT [] synonym: "Cerebellar Neoplasm" EXACT [] synonym: "Cerebellar Tumor" EXACT [] synonym: "Cerebellar Tumors" EXACT [] synonym: "Cerebellum Primary Neoplasm" EXACT [] synonym: "cerebellum primary neoplasms" EXACT [] synonym: "primary cerebellar neoplasm" EXACT [] synonym: "primary cerebellar neoplasms" EXACT [] xref: MESH:D002528 xref: NCI:C191764 is_a: DOID:2786 ! cerebellar disease is_a: DOID:9001662 ! Infratentorial Neoplasms [Term] id: DOID:9001690 name: Primary Autosomal Recessive Microcephaly 30 def: "A disease characterized by small head circumference, poor overall growth, and global developmental delay with variably impaired intellectual development. Caused by homozygous or compound heterozygous mutation in the BUB1 gene on chromosome 2q14." [MIM:620183] synonym: "MCPH30" EXACT [] xref: MIM:620183 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: mtutaj creation_date: 2023-01-04T13:43:24Z [Term] id: DOID:9001691 name: Vater-Like Defects with Pulmonary Hypertension, Laryngeal Webs, and Growth Deficiency alt_id: MIM:608406 xref: MESH:C564244 is_a: DOID:1682 ! congenital heart disease is_a: DOID:6432 ! pulmonary hypertension is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001692 name: Primary Ciliary Dyskinesia 46 def: "Characterized by recurrent sinus and respiratory infections, with reduced pulmonary function and uncoordinated beating of respiratory cilia. Caused by homozygous mutation in the STK36 gene on chromosome 2q35. (OMIM)" [] synonym: "CILD46" EXACT [] synonym: "STK36-RELATED CONDITION" EXACT [] xref: MIM:619436 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: mtutaj creation_date: 2021-07-16T16:10:58Z [Term] id: DOID:9001693 name: Senior-Loken Syndrome 9 def: "An autosomal recessive disorder characterized by early-onset nephronophthisis and pigmentary retinopathy. (OMIM)" [] synonym: "SLSN9" EXACT [] xref: MIM:616629 is_a: DOID:0050576 ! Senior-Loken syndrome created_by: rgd creation_date: 2017-04-04T00:00:00Z [Term] id: DOID:9001694 name: NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES alt_id: MIM:618709 def: "A highly variable syndrome characterized by impaired intellectual development and behavioral abnormalities associated with structural changes on brain imaging." [MIM:618709] synonym: "DLL1-RELATED CONDITION" EXACT [] synonym: "NEDBAS" EXACT [] xref: EFO:0010661 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2020-01-14T16:28:42Z [Term] id: DOID:9001695 name: Synovial Chondromatosis def: "Rare, benign, chronic, progressive metaplasia in which cartilage is formed in the synovial membranes of joints, tendon sheaths, or bursae. Some of the metaplastic foci can become detached producing loose bodies. When the loose bodies undergo secondary calcification, the condition is called synovial osteochondromatosis." [MESH:D015838] synonym: "Henderson Jones Syndrome" EXACT [] synonym: "Reichel's Syndrome" EXACT [] synonym: "Reichels Syndrome" EXACT [] synonym: "Reichel Syndrome" EXACT [] synonym: "Synovial Chondromatoses" EXACT [] synonym: "Synovial Chondrometaplasia" EXACT [] synonym: "Synovial Chondrometaplasias" EXACT [] synonym: "Synovial Osteochondromatoses" EXACT [] synonym: "Synovial Osteochondromatosis" EXACT [] xref: EFO:1000557 xref: MESH:D015838 is_a: DOID:381 ! arthropathy [Term] id: DOID:9001697 name: Pierre Robin Sequence with Pectus Excavatum and Rib and Scapular Anomalies alt_id: MIM:602196 synonym: "Campomelic dysplasia, mild" EXACT [] synonym: "SKELETAL DYSPLASIA RELATED TO CAMPOMELIC DYSPLASIA" EXACT [] xref: MESH:C535775 is_a: DOID:0050463 ! campomelic dysplasia is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome [Term] id: DOID:9001698 name: Alpha-Mannosidosis, Type 1 alt_id: RDO:0002209 def: "A mild form recognized after age ten years with absence of skeletal abnormalities, muscle problems (myopathy), and slow progression. (GARD)" [] xref: MESH:C536584 is_a: DOID:3413 ! alpha-mannosidosis [Term] id: DOID:9001699 name: gangrene def: "Death and putrefaction of tissue usually due to a loss of blood supply." [MESH:D005734] xref: EFO:0008574 xref: MESH:D005734 is_a: DOID:9005749 ! Necrosis [Term] id: DOID:9001700 name: Thoracolaryngopelvic Dysplasia alt_id: MIM:187760 synonym: "Autosomal dominant thoracolaryngopelvic dysplasia" EXACT [] synonym: "Barnes syndrome" EXACT [] xref: MESH:C536517 is_a: DOID:11088 ! asphyxia neonatorum is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001701 name: Pellagra like Syndrome alt_id: MIM:260650 synonym: "Pellagra-like rash with neurologic manifestations" EXACT [] xref: MESH:C538352 is_a: DOID:225 ! syndrome is_a: DOID:8457 ! pellagra [Term] id: DOID:9001702 name: Tucker Syndrome alt_id: MIM:193240 synonym: "congenital bilateral recurrent nerve paralysis and ptosis" EXACT [] synonym: "ptosis vocal cord paralysis" EXACT [] synonym: "vocal cord paralysis and ptosis" EXACT [] xref: MESH:C536923 is_a: DOID:0060260 ! ptosis is_a: DOID:225 ! syndrome is_a: DOID:9000586 ! Vocal Cord Paralysis [Term] id: DOID:9001703 name: Autosomal Recessive Congenital Ichthyosis 12 synonym: "ARCI12" EXACT [] xref: MIM:617320 xref: RDO:9001604 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:9001704 name: Pili Torti, Developmental Delay, Neurological Abnormalities synonym: "abnormal hair, joint laxity, and developmental delay" EXACT [] synonym: "pili torti and developmental delay" EXACT [] xref: MESH:C537398 xref: MIM:261990 xref: MONDO:0009871 is_a: DOID:9001511 ! Pili Torti is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001705 name: Chromosome 11q Partial Deletion synonym: "Deletion 11q partial" EXACT [] synonym: "Monosomy 11q partial" EXACT [] xref: MESH:C538296 xref: RDO:0004258 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9001706 name: Edentulous Jaw def: "The total absence of teeth from either the mandible or the maxilla, but not both. Total absence of teeth from both is MOUTH, EDENTULOUS. Partial absence of teeth in either is JAW, EDENTULOUS, PARTIALLY." [MESH:D007575] synonym: "Edentulous Jaws" EXACT [] xref: MESH:D007575 is_a: DOID:9003876 ! Jaw Diseases is_a: DOID:9007083 ! Edentulous Mouth [Term] id: DOID:9001707 name: BULIMIA NERVOSA 2 synonym: "BULIMIA NERVOSA, SUSCEPTIBILITY TO, 2" RELATED [] synonym: "BULN2" EXACT [] is_a: DOID:12129 ! bulimia nervosa created_by: slaulede creation_date: 2019-07-01T10:51:22Z [Term] id: DOID:9001708 name: Hemorrhagic Shock def: "Acute hemorrhage or excessive fluid loss resulting in HYPOVOLEMIA." [MESH:D012771] xref: MESH:D012771 is_a: DOID:9002549 ! Shock is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9001709 name: Zoster Sine Herpete def: "HERPES ZOSTER but without eruption of vesicles. Patients exhibit the characteristic pain minus the skin rash, sometimes making diagnosis difficult." [MESH:D031368] synonym: "Zoster Sine Eruptione" EXACT [] xref: EFO:1001453 xref: MESH:D031368 xref: RDO:0007480 is_a: DOID:8536 ! herpes zoster [Term] id: DOID:9001710 name: CANOMAD Syndrome xref: MESH:C537980 xref: RDO:0003909 is_a: DOID:225 ! syndrome is_a: DOID:539 ! ophthalmoplegia is_a: DOID:718 ! autoimmune hemolytic anemia is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9001711 name: Central Cord Syndrome def: "A syndrome associated with traumatic injury to the cervical or upper thoracic regions of the spinal cord characterized by weakness in the arms with relative sparing of the legs and variable sensory loss. This condition is associated with ischemia, hemorrhage, or necrosis involving the central portions of the spinal cord. Corticospinal fibers destined for the legs are spared due to their more external location in the spinal cord. This clinical pattern may emerge during recovery from spinal shock. Deficits may be transient or permanent." [MESH:D020210] synonym: "Central Cord Injury Syndrome" EXACT [] synonym: "Central Spinal Cord Syndrome" EXACT [] xref: EFO:1001772 xref: MESH:D020210 is_a: DOID:225 ! syndrome is_a: DOID:9000039 ! Spinal Cord Injuries [Term] id: DOID:9001712 name: Neurodevelopmental Disorder with or without Autistic Features and/or Structural Brain Abnormalities def: "An early-onset neurologic disorder characterized by global developmental delay, poor or absent speech and language development, and behavioral abnormalities reminiscent of autism spectrum disorder or Angelman syndrome. (OMIM)" [] synonym: "NEDASB" EXACT [] xref: MIM:618859 is_a: DOID:12849 ! autistic disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006534 ! Nervous System Malformations created_by: slaulede creation_date: 2020-08-10T15:29:17Z [Term] id: DOID:9001713 name: Spatial Visualization, Aptitude For synonym: "VISUOSPATIAL/PERCEPTUAL ABILITIES" NARROW [] synonym: "VSPA TURNER SYNDROME-ASSOCIATED NEUROCOGNITIVE PHENOTYPE" NARROW [] xref: MIM:313000 xref: RDO:0008715 is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:9001714 name: Ankle Injuries def: "Harm or hurt to the ankle or ankle joint usually inflicted by an external source." [MESH:D016512] synonym: "Ankle Injury" EXACT [] synonym: "Ankle Sprain" EXACT [] synonym: "Ankle Sprains" EXACT [] synonym: "Syndesmotic Injuries" EXACT [] synonym: "Syndesmotic Injury" EXACT [] xref: EFO:1002021 xref: MESH:D016512 is_a: DOID:9008911 ! Leg Injuries [Term] id: DOID:9001715 name: 3-Hydroxyacyl-CoA Dehydrogenase Deficiency alt_id: MIM:231530 synonym: "3-Alpha-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency" EXACT [] synonym: "3-Hydroxyacyl-Coenzyme A Dehydrogenase Deficiency" EXACT [] synonym: "DEFICIENCY OF 3-HYDROXYACYL-COA DEHYDROGENASE" EXACT [] synonym: "HAD Deficiency" EXACT [] synonym: "HADH Deficiency" EXACT [] synonym: "HADHSC Deficiency" EXACT [] synonym: "L-3-Alpha-Hydroxyacyl-CoA Dehydrogenase, Short Chain, Deficiency" EXACT [] synonym: "M-SCHAD Deficiency" EXACT [] synonym: "SCHAD Deficiency" EXACT [] xref: MESH:C535310 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9001716 name: Hip Contracture def: "Permanent fixation of the hip in primary positions, with limited passive or active motion at the hip joint. Locomotion is difficult and pain is sometimes present when the hip is in motion. It may be caused by trauma, infection, or poliomyelitis. (From Current Medical Information & Technology, 5th ed)" [MESH:D006616] synonym: "Hip Contractures" EXACT [] xref: MESH:D006616 is_a: DOID:9006836 ! Contracture [Term] id: DOID:9001717 name: Telfer Sugar Jaeger Syndrome alt_id: MIM:172850 synonym: "Piebald trait neurologic defects" EXACT [] synonym: "White forelock and leukoderma with neurological impairment" EXACT [] xref: MESH:C536955 is_a: DOID:225 ! syndrome is_a: DOID:3263 ! piebaldism is_a: DOID:480 ! movement disease [Term] id: DOID:9001718 name: Veterinary Abortion def: "Premature expulsion of the FETUS in animals." [MESH:D000034] synonym: "Veterinary Abortions" EXACT [] xref: MESH:D000034 is_a: DOID:9003281 ! Spontaneous Abortions is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9001719 name: Salter-Harris Fractures def: "Fractures involving a GROWTH PLATE." [MESH:D000072042] synonym: "Growth Plate Fracture" EXACT [] synonym: "Growth Plate Fractures" EXACT [] synonym: "Growth Plate Injuries" EXACT [] synonym: "Growth Plate Injury" EXACT [] xref: MESH:D000072042 is_a: DOID:9000012 ! Fracture Dislocation [Term] id: DOID:9001720 name: Anhaptoglobinemia synonym: "Ahaptoglobinemia" EXACT [] synonym: "AHP" EXACT [] xref: MIM:614081 xref: RDO:9000701 is_a: DOID:620 ! blood protein disease [Term] id: DOID:9001721 name: Warburton Anyane Yeboa Syndrome synonym: "Mosaic variegated aneuplody microcephaly syndrome" EXACT [] xref: MESH:C536682 xref: RDO:0002327 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9001722 name: Dysarthria def: "Disorders of speech articulation caused by imperfect coordination of pharynx, larynx, tongue, or face muscles. This may result from CRANIAL NERVE DISEASES; NEUROMUSCULAR DISEASES; CEREBELLAR DISEASES; BASAL GANGLIA DISEASES; BRAIN STEM diseases; or diseases of the corticobulbar tracts (see PYRAMIDAL TRACTS). The cortical language centers are intact in this condition. (From Adams et al., Principles of Neurology, 6th ed, p489)" [MESH:D004401] synonym: "Dysarthoses" EXACT [] synonym: "Dysarthosis" EXACT [] synonym: "Dysarthrias" EXACT [] synonym: "Flaccid Dysarthria" EXACT [] synonym: "Flaccid Dysarthrias" EXACT [] synonym: "Guttural Dysarthria" EXACT [] synonym: "Guttural Dysarthrias" EXACT [] synonym: "Mixed Dysarthria" EXACT [] synonym: "Mixed Dysarthrias" EXACT [] synonym: "Scanning Dysarthria" EXACT [] synonym: "Scanning Dysarthrias" EXACT [] synonym: "Spastic Dysarthria" EXACT [] synonym: "Spastic Dysarthrias" EXACT [] xref: MESH:D004401 is_a: DOID:4186 ! articulation disorder [Term] id: DOID:9001724 name: Fusobacterium Infections def: "Infections with bacteria of the genus FUSOBACTERIUM." [] synonym: "Fusobacterium Infection" EXACT [] synonym: "Fusobacterium infectious disease" EXACT [] synonym: "Necrobacilloses" EXACT [] synonym: "Necrobacillosis" EXACT [] synonym: "Sphaerophorus Infection" EXACT [] synonym: "Sphaerophorus Infections" EXACT [] xref: EFO:1000943 xref: MESH:D005674 is_a: DOID:9006349 ! Fusobacteriaceae Infections [Term] id: DOID:9001725 name: Retina Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the retina, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "Retinal Ischemia-Reperfusion Injury" EXACT [] synonym: "RIRI" EXACT [] xref: PMID:32452260 is_a: DOID:5679 ! retinal disease is_a: DOID:9004009 ! Reperfusion Injury [Term] id: DOID:9001726 name: Wasting Syndrome def: "A condition of involuntary weight loss of greater then 10% of baseline body weight. It is characterized by atrophy of muscles and depletion of lean body mass. Wasting is a sign of MALNUTRITION as a result of inadequate dietary intake, malabsorption, or hypermetabolism." [MESH:D019282] synonym: "Wasting Disease" EXACT [] synonym: "Wasting Diseases" EXACT [] synonym: "Wasting Syndromes" EXACT [] xref: MESH:D019282 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:225 ! syndrome is_a: DOID:374 ! nutrition disease [Term] id: DOID:9001727 name: French Type Sialuria xref: MESH:C537332 is_a: DOID:3659 ! sialuria [Term] id: DOID:9001729 name: Median-Ulnar Nerve Communications alt_id: MIM:155150 synonym: "Martin-Gruber Median-Ulnar Anastomosis" EXACT [] xref: MESH:C563598 is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:9001730 name: Salivary Calculi def: "The presence of calculi in a salivary duct or gland." [MESH:D020792] synonym: "Salivary Calculus" EXACT [] xref: MESH:D020792 is_a: DOID:10854 ! salivary gland disease is_a: DOID:9005602 ! Calculi [Term] id: DOID:9001731 name: Cluster Headache, Familial alt_id: MIM:119915 xref: MESH:C566117 is_a: DOID:9007081 ! Cluster Headache [Term] id: DOID:9001732 name: Nephrosialidosis alt_id: MIM:256150 xref: MESH:C562606 is_a: DOID:2527 ! nephrosis is_a: DOID:3343 ! glycoproteinosis [Term] id: DOID:9001733 name: Tinnitus def: "A nonspecific symptom of hearing disorder characterized by the sensation of buzzing, ringing, clicking, pulsations, and other noises in the ear. Objective tinnitus refers to noises generated from within the ear or adjacent structures that can be heard by other individuals. The term subjective tinnitus is used when the sound is audible only to the affected individual. Tinnitus may occur as a manifestation of COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; INTRACRANIAL HYPERTENSION; CRANIOCEREBRAL TRAUMA; and other conditions." [MESH:D014012] synonym: "Clicking Tinnitus" EXACT [] synonym: "Leudet's Tinnitus" EXACT [] synonym: "Leudet Tinnitus" EXACT [] synonym: "Noise Induced Tinnitus" EXACT [] synonym: "Objective Tinnitus" EXACT [] synonym: "Pulsatile Tinnitus" EXACT [] synonym: "Ringing Buzzing Tinnitus" EXACT [] synonym: "Spontaneous Oto Acoustic Emission Tinnitus" EXACT [] synonym: "Subjective Tinnitus" EXACT [] synonym: "Tensor Palatini Induced Tinnitus" EXACT [] synonym: "Tensor Tympani Induced Tinnitus" EXACT [] synonym: "Tinnitus, Leudets" EXACT [] synonym: "Tinnitus of Vascular Origin" EXACT [] synonym: "Vascular Origin Tinnitus" EXACT [] xref: MESH:D014012 is_a: DOID:9002500 ! Hearing Disorders [Term] id: DOID:9001734 name: Neurocutaneous Syndromes def: "A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs." [MESH:D020752] synonym: "Neurocutaneous Disorder" EXACT [] synonym: "Neurocutaneous Disorders" EXACT [] synonym: "Neurocutaneous Syndrome" EXACT [] synonym: "Neuroectodermal Dysplasia Syndrome" EXACT [] synonym: "Neuroectodermal Dysplasia Syndromes" EXACT [] synonym: "Phacomatoses" EXACT [] synonym: "Phacomatosis" EXACT [] synonym: "Phakomatoses" EXACT [] synonym: "Phakomatosis" EXACT [] xref: MESH:D020752 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:863 ! nervous system disease [Term] id: DOID:9001735 name: Skin/Hair/Eye Pigmentation, Variation In, 4 synonym: "SHEP4" NARROW [] synonym: "SKIN/HAIR/EYE PIGMENTATION 4, FAIR/DARK SKIN" NARROW [] xref: MESH:C567300 xref: RDO:0015412 is_a: DOID:0080614 ! oculocutaneous albinism type VI is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9001736 name: Neurodevelopmental Disorder with Speech Impairment and with or without Seizures def: "A phenotypically heterogeneous neurologic disorder whose severity appears to depend on the functional effect of the CACNA1I mutation." [MIM:620114] synonym: "CACNA1I-RELATED CONDITION" EXACT [] synonym: "NEDSIS" EXACT [] xref: MIM:620114 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders created_by: mtutaj creation_date: 2022-11-21T14:44:15Z [Term] id: DOID:9001737 name: Sideroblastic Anemia 5 def: "An autosomal recessive hematologic disorder characterized by abnormal iron accumulation in the mitochondria or erythroid cells. Caused by compound heterozygous mutation in the HSCB gene on chromosome 22q12. (OMIM)" [] synonym: "SIDBA5" EXACT [] xref: MIM:619523 is_a: DOID:8955 ! sideroblastic anemia created_by: mtutaj creation_date: 2021-09-20T10:26:09Z [Term] id: DOID:9001738 name: Hypercalciuria def: "Excretion of abnormally high level of CALCIUM in the URINE, greater than 4 mg/kg/day." [MESH:D053565] synonym: "Hypercalciuria, childhood, self-limiting" NARROW [] xref: MESH:D053565 xref: RDO:0001509 is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:9007629 ! Urological Manifestations [Term] id: DOID:9001739 name: Johnston-Aarons-Schelley Syndrome synonym: "Arthrogryposis with Hyperkeratosis" EXACT [] synonym: "Joint contractures, hyperkeratosis, and severe hypoplasia of the posterior columns" EXACT [] xref: MESH:C535883 xref: MIM:208158 xref: MONDO:0008826 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:161 ! keratosis is_a: DOID:225 ! syndrome [Term] id: DOID:9001740 name: Blue Nevus def: "Usually a benign tumor, that commonly presents as a solitary blue nodule with spindled MELANOCYTES covered by smooth SKIN. Several variants have been identified, one variant being malignant. The blue color is caused by large, densely packed melanocytes deep in the DERMIS of the nevus. In CHILDREN, they usually occur on the BUTTOCKS and LUMBOSACRAL REGION and are referred to as cellular blue nevi. Malignant blue nevi are more commonly found on the SCALP." [MESH:D018329] synonym: "Blue Nevi" EXACT [] synonym: "Cellular Blue Nevi" EXACT [] synonym: "Cellular Blue Nevus" EXACT [] xref: EFO:1000841 xref: MESH:D018329 is_a: DOID:9005120 ! Pigmented Nevus [Term] id: DOID:9001741 name: Symphalangism with Multiple Anomalies of Hands and Feet alt_id: MIM:185750 xref: MESH:C566098 is_a: DOID:11971 ! synostosis is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9001742 name: Hemospermia def: "Blood in the SEMEN, usually due to INFLAMMATION of the PROSTATE, the SEMINAL VESICLES, or both." [MESH:D051516] synonym: "Hematospermia" EXACT [] xref: MESH:D051516 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:9001743 name: Cataract 49 def: "Characterized by congenital cataract located in the posterior region of the lens. Visual impairment has onset in early childhood. Caused by heterozygous mutation in the PANK4 gene on chromosome 1p36. (OMIM)" [] synonym: "CTRCT49" EXACT [] synonym: "posterior cataract 49" EXACT [] xref: MIM:619593 is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2021-11-03T12:12:09Z [Term] id: DOID:9001744 name: Lethal Osteosclerotic Chondrodysplasia, with Intracellular Inclusions alt_id: MIM:603393 xref: MESH:C566378 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:9001745 name: Fasciculation def: "Involuntary contraction of the muscle fibers innervated by a motor unit. Fasciculations may be visualized as a muscle twitch or dimpling under the skin, but usually do not generate sufficient force to move a limb. They may represent a benign condition or occur as a manifestation of MOTOR NEURON DISEASE or PERIPHERAL NERVOUS SYSTEM DISEASES. (Adams et al., Principles of Neurology, 6th ed, p1294)" [MESH:D005207] synonym: "Benign Fasciculation" EXACT [] synonym: "benign fasciculations" EXACT [] synonym: "Fasciculations" EXACT [] synonym: "Muscular Fasciculation" EXACT [] synonym: "Muscular Fasciculations" EXACT [] synonym: "Skeletal Muscle Fasciculation" EXACT [] synonym: "Skeletal Muscle Fasciculations" EXACT [] synonym: "Tongue Fasciculation" EXACT [] synonym: "tongue fasciculations" EXACT [] xref: MESH:D005207 is_a: DOID:9000165 ! Neuromuscular Manifestations [Term] id: DOID:9001746 name: Congenital Disorder of Glycosylation with Defective Fucosylation 2 synonym: "CDGF2" EXACT [] synonym: "FCSK-RELATED CONDITION" EXACT [] xref: MIM:618324 is_a: DOID:9001022 ! Congenital Disorder of Glycosylation with Defective Fucosylation created_by: mtutaj creation_date: 2019-02-21T00:00:00Z [Term] id: DOID:9001747 name: Ventricular Dysfunction, Left def: "A condition in which the LEFT VENTRICLE of the heart was functionally impaired. This condition usually leads to HEART FAILURE; MYOCARDIAL INFARCTION; and other cardiovascular complications. Diagnosis is made by measuring the diminished ejection fraction and a depressed level of motility of the left ventricular wall." [MESH:D018487] synonym: "Left Ventricular Dysfunctions" EXACT [] xref: MESH:D018487 xref: RDO:0007210 is_a: DOID:9007039 ! Ventricular Dysfunction [Term] id: DOID:9001748 name: Congenital Cataract with Mental Impairment and Dentate Gyrus Atrophy alt_id: MIM:607674 xref: MESH:C564353 is_a: DOID:1059 ! intellectual disability is_a: DOID:83 ! cataract [Term] id: DOID:9001749 name: Chemotherapy-Related Cognitive Impairment def: "The diminished or impaired mental and/or intellectual function associated with the chemical treatment of cancer. (MESH)" [] synonym: "Chemobrain" EXACT [] synonym: "Chemo-Fog" EXACT [] synonym: "Chemotherapy-Induced Cognitive Dysfunction" EXACT [] synonym: "Chemotherapy-Induced Cognitive Impairment" EXACT [] synonym: "Chemotherapy-Related Cognitive Dysfunction" EXACT [] xref: MESH:D000084202 is_a: DOID:9002775 ! Cognitive Dysfunction is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions created_by: mtutaj creation_date: 2020-12-21T21:11:11Z [Term] id: DOID:9001751 name: Insulin-Resistant Diabetes Mellitus, with Acanthosis Nigricans alt_id: MIM:610549 alt_id: RDO:0012305 synonym: "Diabetes Mellitus, Insulin-Resistant, with Acanthosis Nigricans, Type A" EXACT [] synonym: "INSULIN RECEPTOR, DEFECT IN, WITH INSULIN-RESISTANT DIABETES MELLITUS AND ACANTHOSIS NIGRICANS" EXACT [] synonym: "Insulin Receptor Defect with Insulin-Resistant Diabetes Mellitus and Acanthosis Nigricans" EXACT [] synonym: "IRAN, Type A" EXACT [] xref: EFO:1001503 xref: MESH:C562710 is_a: DOID:3138 ! acanthosis nigricans is_a: DOID:9007692 ! Insulin Resistance is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9001752 name: Shoulder Dislocation def: "Displacement of the HUMERUS from the SCAPULA." [MESH:D012783] synonym: "Glenohumeral Dislocation" EXACT [] synonym: "glenohumeral dislocations" EXACT [] synonym: "Glenohumeral Subluxation" EXACT [] synonym: "Glenohumeral Subluxations" EXACT [] synonym: "shoulder dislocations" EXACT [] synonym: "SHOULDER SUBLUXATION" NARROW [] xref: MESH:D012783 is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9004155 ! Shoulder Injuries [Term] id: DOID:9001754 name: Moloney Syndrome synonym: "Choroidal atrophy alopecia" EXACT [] synonym: "Regional choroidal atrophy and alopecia" EXACT [] xref: MESH:C535810 is_a: DOID:1415 ! gyrate atrophy is_a: DOID:225 ! syndrome is_a: DOID:987 ! alopecia [Term] id: DOID:9001755 name: Haspeslagh Fryns Muelenaere Syndrome alt_id: MIM:177980 synonym: "distinctive craniofacial features with pterygia and mental retardation" EXACT [] synonym: "Haspeslagh syndrome" EXACT [] synonym: "mental retardation with pterygia, shortness and distinct facial appearance" EXACT [] synonym: "pterygia, impaired intellectual development, and distinctive craniofacial features" EXACT [] synonym: "pterygia, mental retardation, and distinctive craniofacial features" EXACT [] xref: MESH:C535844 is_a: DOID:0002116 ! pterygium is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001756 name: Hyphema def: "Bleeding in the anterior chamber of the eye." [MESH:D006988] synonym: "Hyphemas" EXACT [] xref: MESH:D006988 is_a: DOID:9004938 ! Eye Hemorrhage [Term] id: DOID:9001757 name: Patel Bixler Syndrome synonym: "Alopecia, dysplastic nails, palmar and plantar hyperkeratosis" EXACT [] synonym: "Palmoplantar hyperkeratosis and alopecia" EXACT [] xref: MESH:C536306 is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:4123 ! nail disease is_a: DOID:987 ! alopecia [Term] id: DOID:9001758 name: Malunited Fractures def: "Union of the fragments of a fractured bone in a faulty or abnormal position. If two bones parallel to one another unite by osseous tissue, the result is a crossunion. (From Manual of Orthopaedic Terminology, 4th ed)" [MESH:D017759] synonym: "Crossunited Fracture" EXACT [] synonym: "Crossunited Fractures" EXACT [] synonym: "Fracture, Abnormal Union" EXACT [] synonym: "Fracture Malunion" EXACT [] synonym: "Fracture Malunions" EXACT [] synonym: "Fractures, Abnormal Union" EXACT [] synonym: "Malunited Fracture" EXACT [] xref: EFO:0010684 xref: MESH:D017759 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9001759 name: Ichthyosis Congenita with Biliary Atresia alt_id: MIM:242400 xref: MESH:C562886 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis is_a: DOID:13608 ! biliary atresia [Term] id: DOID:9001760 name: Dandruff def: "Excessive shedding of dry scaly material from the scalp in humans." [] synonym: "Scurf" EXACT [] xref: MESH:D063807 is_a: DOID:2723 ! dermatitis is_a: DOID:3136 ! scalp dermatosis [Term] id: DOID:9001762 name: Partial Atrioventricular Canal synonym: "Atrial Septal Defect, Primum Type" EXACT [] synonym: "Partial atrioventricular septal defects" EXACT [] synonym: "Partial AVSD" EXACT [] synonym: "Partial common atrioventricular canal" EXACT [] xref: MESH:C536112 xref: RDO:0001551 is_a: DOID:1657 ! ventricular septal defect [Term] id: DOID:9001763 name: Spinal Dysplasia, Anhalt Type alt_id: MIM:601344 xref: MESH:C563348 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9001764 name: Ausems Wittebol-Post Hennekam Syndrome synonym: "Cleft lip with progressive retinopathy" EXACT [] xref: MESH:C538272 is_a: DOID:225 ! syndrome is_a: DOID:5679 ! retinal disease is_a: DOID:9296 ! cleft lip [Term] id: DOID:9001765 name: Aloi Tomasini Isaia Syndrome synonym: "Basal cell nevus, anodontia, abnormal bone mineralization" EXACT [] xref: MESH:C537049 is_a: DOID:13714 ! anodontia is_a: DOID:225 ! syndrome is_a: DOID:2512 ! nevoid basal cell carcinoma syndrome is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:9001766 name: Infantile Hypertrophic Pyloric Stenosis 4 alt_id: MIM:300711 synonym: "IHPS4" EXACT [] xref: MESH:C567472 is_a: DOID:12638 ! hypertrophic pyloric stenosis [Term] id: DOID:9001767 name: Unilateral Hearing Loss alt_id: MIM:125000 def: "Partial or complete hearing loss in one ear." [MESH:D046088] synonym: "unilateral deafness" EXACT [] xref: MESH:D046088 is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9001768 name: Photoparoxysmal Response 2 alt_id: RDO:0009332 synonym: "PHOTOPAROXYSMAL RESPONSE WITH OR WITHOUT IDIOPATHIC GENERALIZED EPILEPSY" EXACT [] synonym: "PPR2" EXACT [] xref: MIM:609572 is_a: DOID:0060281 ! photosensitive epilepsy is_a: DOID:9001793 ! Generalized Epilepsy [Term] id: DOID:9001769 name: Intellectual Disability with Episodic Ataxia and Congenital Arthrogryposis def: "A syndrome that includes subnormal intellectual functioning, intermittent inability to perform smoothly coordinated voluntary movements, and congenital, persistent flexure or contracture of a joint." [] xref: RDO:9000517 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:963 ! episodic ataxia created_by: rgd creation_date: 2015-05-12T00:00:00Z [Term] id: DOID:9001770 name: ONYCHODYSTROPHY, OSTEODYSTROPHY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES SYNDROME def: "This disease is an autosomal recessive syndromic developmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, and hypoplastic terminal phalanges and nails. Patients have seizures or tonic posturing. The disorder is associated with a defect in GPI anchoring of membrane-bound proteins." [MIM:619356] synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 24" EXACT [] synonym: "GPIBD24" EXACT [] synonym: "OORS" EXACT [] synonym: "OORS SYNDROME" EXACT [] xref: MIM:619356 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: slaulede creation_date: 2021-08-16T15:54:20Z [Term] id: DOID:9001772 name: Noneruption of Teeth with Maxillary Hypoplasia and Genu Valgum xref: MESH:C536952 xref: MIM:273050 xref: MONDO:0010104 is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008214 ! Genu Valgum is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9001773 name: Arroyo Garcia Cimadevilla Syndrome synonym: "Bilateral anophthalmia, esophageal atresia, and right cryptorchidism" EXACT [] xref: MESH:C537439 is_a: DOID:10485 ! esophageal atresia is_a: DOID:11383 ! cryptorchidism is_a: DOID:225 ! syndrome is_a: DOID:9002049 ! Anophthalmia [Term] id: DOID:9001774 name: Neural Deafness with Atypical Atopic Dermatitis alt_id: MIM:221700 xref: MESH:C565639 is_a: DOID:3310 ! atopic dermatitis is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9001775 name: Margins of Excision def: "The edges of tissue removed in a surgery for assessment of the effectiveness of a surgical procedure in achieving the local control of a neoplasm and the adequacy of tumor removal. When the margin is negative or not involved by tumor (e.g., CANCER) it suggests all of the tumor has been removed by the surgery." [MESH:D000072662] synonym: "Excision Margin" EXACT [] synonym: "Excision Margins" EXACT [] synonym: "Negative Surgical Margin" EXACT [] synonym: "Negative Surgical Margins" EXACT [] synonym: "Positive Surgical Margin" EXACT [] synonym: "Positive Surgical Margins" EXACT [] synonym: "Resection Margin" EXACT [] synonym: "Resection Margins" EXACT [] synonym: "Surgical Margin" EXACT [] synonym: "Surgical Margins" EXACT [] synonym: "Tumor-Free Margin" EXACT [] synonym: "Tumor Free Margins" EXACT [] xref: MESH:D000072662 xref: RDO:0016120 is_a: DOID:9002760 ! Morphological and Microscopic Findings [Term] id: DOID:9001776 name: Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type alt_id: MIM:600122 synonym: "Verloes syndrome" EXACT [] xref: MESH:C535693 is_a: DOID:1059 ! intellectual disability is_a: DOID:9003766 ! 46, XY Disorders of Sex Development is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001777 name: Subdural Effusion def: "Leakage and accumulation of CEREBROSPINAL FLUID in the subdural space which may be associated with an infectious process; CRANIOCEREBRAL TRAUMA; BRAIN NEOPLASMS; INTRACRANIAL HYPOTENSION; and other conditions." [MESH:D013353] synonym: "Subdural Cerebrospinal Fluid Effusion" EXACT [] synonym: "Subdural Cerebrospinal Fluid Leakage" EXACT [] synonym: "Subdural Hygroma" EXACT [] xref: EFO:1001429 xref: MESH:D013353 is_a: DOID:9006960 ! Perimeningeal Infections is_a: DOID:936 ! brain disease [Term] id: DOID:9001778 name: Zerres Rietschel Majewski Syndrome xref: MESH:C536724 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001779 name: Lymphocytosis def: "Excess of normal lymphocytes in the blood or in any effusion." [MESH:D008218] synonym: "Lymphocytoses" EXACT [] xref: MESH:D008218 is_a: DOID:9001039 ! Leukocytosis [Term] id: DOID:9001781 name: Wilms Tumor 5 alt_id: MIM:601583 def: "Susceptibility to Wilms tumor can be caused by mutation in the POU6F2 gene on chromosome 7p14. (OMIM)" [] synonym: "bilateral radial aplasia with Wilms tumor" EXACT [] synonym: "Wilms Tumor and Radial Bilateral Aplasia" EXACT [] synonym: "WT5" EXACT [] synonym: "WTSL" EXACT [] xref: MESH:C536707 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:9001782 name: Hirschsprung Disease, Cardiac Defects, and Autonomic Dysfunction alt_id: MIM:613870 synonym: "HCAD" EXACT [] xref: MESH:C563939 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9001783 name: Sackey Sakati Aur Syndrome synonym: "Aur syndrome" EXACT [] synonym: "Multiple dysmorphic features and pancytopenia" EXACT [] synonym: "Pancytopenia multiple congenital anomalies" EXACT [] xref: MESH:C537219 is_a: DOID:12450 ! pancytopenia is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001784 name: Brachymetapody-Anodontia-Hypotrichosis-Albinoidism alt_id: MIM:211370 synonym: "anodontia-hypotrichosis syndrome" EXACT [] synonym: "oculoosteocutaneous syndrome" EXACT [] xref: MESH:C565893 is_a: DOID:13714 ! anodontia is_a: DOID:4535 ! hypotrichosis is_a: DOID:9001386 ! Albinism is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9001785 name: Shared Paranoid Disorder def: "A condition in which closely related persons, usually in the same family, share the same delusions." [MESH:D012753] synonym: "Folie a Deux" EXACT [] synonym: "Folie a Trois" EXACT [] synonym: "Shared Paranoid Disorders" EXACT [] synonym: "Shared Psychotic Disorder" EXACT [] synonym: "Shared Psychotic Disorders" EXACT [] xref: MESH:D012753 is_a: DOID:5419 ! schizophrenia [Term] id: DOID:9001786 name: Immunodeficiency 112 def: "An autosomal recessive primary immunologic disorder with variable manifestations beginning in early childhood. Caused by homozygous mutation in the MAP3K14 gene on chromosome 17q21." [MIM:620449] synonym: "IMD112" EXACT [] xref: MIM:620449 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2023-07-28T11:45:12Z [Term] id: DOID:9001788 name: Gingival Hemorrhage def: "The flowing of blood from the marginal gingival area, particularly the sulcus, seen in such conditions as GINGIVITIS, marginal PERIODONTITIS, injury, and ASCORBIC ACID DEFICIENCY." [MESH:D005884] synonym: "Gingival Hemorrhages" EXACT [] xref: MESH:D005884 xref: RDO:0003542 is_a: DOID:1483 ! gingival disease is_a: DOID:9008806 ! Oral Hemorrhage [Term] id: DOID:9001789 name: Hypomelia Mullerian Duct Anomalies alt_id: MIM:146160 synonym: "Hypomelia with Mullerian Duct Anomalies" EXACT [] synonym: "Limb-uterus syndrome" EXACT [] synonym: "Severe upper limb hypoplasia and Mullerian duct anomalies" EXACT [] xref: MESH:C537155 is_a: DOID:9004402 ! Congenital Upper Extremity Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001790 name: Long QT Syndrome 1/2 synonym: "LONG QT SYNDROME 1/2, DIGENIC" EXACT [] synonym: "LQT1/2, DIGENIC" EXACT [] xref: MESH:C566006 is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:9001791 name: Puerperal Disorders def: "Disorders or diseases associated with PUERPERIUM, the six-to-eight-week period immediately after PARTURITION in humans." [MESH:D011644] synonym: "Puerperal Disorder" EXACT [] xref: EFO:0009683 xref: MESH:D011644 is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9001792 name: Orofaciodigital Syndrome 12 synonym: "Moran-Barroso syndrome" EXACT [] synonym: "OFD12" EXACT [] synonym: "OFDS 12" EXACT [] synonym: "oral-facial-digital syndrome 12" EXACT [] synonym: "orofaciodigital syndrome type 12" EXACT [] synonym: "orofaciodigital syndrome XII" EXACT [] xref: MESH:C548034 is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:9001793 name: Generalized Epilepsy def: "Recurrent conditions characterized by epileptic seizures which arise diffusely and simultaneously from both hemispheres of the brain. Classification is generally based upon motor manifestations of the seizure (e.g., convulsive, nonconvulsive, akinetic, atonic, etc.) or etiology (e.g., idiopathic, cryptogenic, and symptomatic). (From Mayo Clin Proc, 1996 Apr;71(4):405-14)" [MESH:D004829] synonym: "akinetic epilepsies" EXACT [] synonym: "Akinetic Epilepsy" EXACT [] synonym: "Atonic Epilepsies" EXACT [] synonym: "Atonic Epilepsy" EXACT [] synonym: "Convulsive Generalized Seizure Disorder" EXACT [] synonym: "EPILEPTIC ENCEPHALOPATHY" EXACT [] synonym: "Generalized Convulsive Epilepsies" EXACT [] synonym: "Generalized Convulsive Epilepsy" EXACT [] synonym: "Generalized Epilepsies" EXACT [] synonym: "Generalized Nonconvulsive Epilepsy" EXACT [] synonym: "Generalized Nonconvulsive Seizure Disorder" EXACT [] synonym: "GENERALIZED-ONSET SEIZURE" EXACT [] synonym: "Generalized Onset Seizure Disorder" EXACT [] synonym: "Generalized Seizure Disorder" EXACT [] synonym: "Generalized Seizure Disorders" EXACT [] synonym: "Symptomatic Generalized Epilepsy" EXACT [] synonym: "Tonic Epilepsies" EXACT [] synonym: "tonic epilepsy" EXACT [] xref: EFO:0005917 xref: MESH:D004829 is_a: DOID:1826 ! epilepsy [Term] id: DOID:9001794 name: Cholestasis with Gallstone, Ataxia, and Visual Disturbance alt_id: MIM:214980 xref: MESH:C565856 is_a: DOID:13580 ! cholestasis is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9006113 ! Gallstones [Term] id: DOID:9001795 name: Lathyrism def: "A paralytic condition of the legs caused by ingestion of lathyrogens, especially BETA-AMINOPROPIONITRILE or beta-N-oxalyl amino-L-alanine, which are found in the seeds of plants of the genus LATHYRUS." [MESH:D007842] synonym: "Neurolathyrism" EXACT [] xref: MESH:D007842 is_a: DOID:9003189 ! Plant Poisoning [Term] id: DOID:9001796 name: Mesodermal Mixed Tumor alt_id: RDO:0007103 def: "A sarcoma of the body of the uterus arising in older women, composed of more than one mesenchymal tissue, especially including striated muscle cells. It is associated with previous pelvic radiation exposure in 20% of patients. (Stedman, 25th ed; Holland et al., Cancer Medicine, 3d ed, p1702)" [MESH:D018199] synonym: "Mesodermal Mixed Tumors" EXACT [] xref: EFO:1001371 xref: MESH:D018199 is_a: DOID:1115 ! sarcoma is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:9001797 name: Inherited Thyroxine-Binding Globulin Deficiency alt_id: RDO:0015900 synonym: "Tbg Deficiency" EXACT [] synonym: "TBG-PDJ" NARROW [] synonym: "THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL, JAPANESE TYPE" NARROW [] synonym: "THYROXINE-BINDING GLOBULIN, VARIANT P" RELATED [] xref: MESH:C580199 is_a: DOID:50 ! thyroid gland disease is_a: DOID:9005007 ! Thyroxine-Binding Globulin Deficiency [Term] id: DOID:9001798 name: Hypercarotenemia and Vitamin A Deficiency, Autosomal Dominant xref: MESH:C567296 xref: MIM:115300 is_a: DOID:9008550 ! Vitamin A Deficiency is_a: DOID:9969 ! carotenemia [Term] id: DOID:9001799 name: Hereditary Congenital Facial Paresis alt_id: MESH:C563309 alt_id: RDO:0001953 alt_id: RDO:0012605 synonym: "Congenital Facial Palsy, Unilateral or Bilateral" EXACT [] xref: MESH:C536386 xref: MIM:PS601471 is_a: DOID:13934 ! facial paralysis is_a: DOID:9008797 ! Facial Asymmetry [Term] id: DOID:9001800 name: IMAGAWA-MATSUMOTO SYNDROME def: "A disease characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities." [MIM:618786] synonym: "IMMAS" EXACT [] xref: MIM:618786 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: slaulede creation_date: 2020-03-13T18:07:54Z [Term] id: DOID:9001801 name: Myopia 17, Autosomal Dominant synonym: "MYOPIA 4" EXACT [] synonym: "MYP17" EXACT [] synonym: "MYP4" EXACT [] xref: MIM:608367 is_a: DOID:11830 ! myopia created_by: rgd creation_date: 2017-03-29T00:00:00Z [Term] id: DOID:9001802 name: Hereditary Hemorrhagic Telangiectasia, Type 4 alt_id: MIM:610655 synonym: "HHT4" EXACT [] xref: MESH:C565691 is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia [Term] id: DOID:9001803 name: GSD IV, Neuromuscular Form, Adult, with Isolated Myopathy xref: MESH:C565544 xref: RDO:0014152 is_a: DOID:2750 ! glycogen storage disease IV is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:9001804 name: FETAL AKINESIA, RESPIRATORY INSUFFICIENCY, MICROCEPHALY, POLYMICROGYRIA, AND DYSMORPHIC FACIES def: "This is an autosomal recessive syndrome characterized by hypotonia in utero resulting in fetal akinesia with generalized joint contractures and arthrogryposis at birth. Affected newborns have severe respiratory insufficiency and significant dysmorphic facial features." [MIM:619602] synonym: "FARIMPD" EXACT [] xref: MIM:619602 is_a: DOID:0080918 ! polymicrogyria is_a: DOID:10907 ! microcephaly is_a: DOID:11162 ! respiratory failure is_a: DOID:480 ! movement disease is_a: DOID:9001487 ! Facies created_by: slaulede creation_date: 2022-02-04T17:43:48Z [Term] id: DOID:9001805 name: Short-Rib Thoracic Dysplasia 17 with or without Polydactyly alt_id: RDO:9001730 synonym: "SRTD17" EXACT [] xref: MIM:617405 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy created_by: rgd creation_date: 2017-06-26T00:00:00Z [Term] id: DOID:9001806 name: Connective Tissue Nevus xref: MESH:C562737 xref: RDO:0012324 is_a: DOID:9002969 ! Nevus [Term] id: DOID:9001807 name: Retinoschisis of Fovea alt_id: MIM:268080 synonym: "familial foveal retinoschisis" EXACT [] synonym: "foveal retinoschisis" EXACT [] xref: MESH:C538369 is_a: DOID:8465 ! retinoschisis [Term] id: DOID:9001808 name: SEDOHEPTULOKINASE DEFICIENCY def: "An autosomal recessive inborn error of metabolism characterized by increased urinary erythritol and sedoheptulose. (OMIM)" [] synonym: "ISOLATED SEDOHEPTULOKINASE DEFICIENCY" EXACT [] synonym: "SHPKD" EXACT [] xref: MIM:617213 xref: RDO:9001544 is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-04-04T00:00:00Z [Term] id: DOID:9001809 name: Urinary Retention def: "Inability to empty the URINARY BLADDER with voiding (URINATION)." [MESH:D016055] xref: MESH:D016055 xref: RDO:0006936 is_a: DOID:9003919 ! Urination Disorders [Term] id: DOID:9001813 name: Alzheimer's Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology alt_id: MIM:605055 synonym: "Alzheimer Disease, Familial Early-Onset, with Coexisting Amyloid and Prion Pathology" EXACT [] xref: MESH:C565728 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:9001814 name: NEUROOCULORENAL SYNDROME def: "This disease is an autosomal recessive developmental disorder with highly variable clinical manifestations involving multiple organ systems. Brain imaging usually shows structural midline defects, including dysgenesis of the corpus callosum and hindbrain." [MIM:620305] synonym: "NORS" EXACT [] xref: MIM:620305 is_a: DOID:557 ! kidney disease is_a: DOID:9001020 ! Eye Manifestations created_by: slaulede creation_date: 2023-06-20T09:24:43Z [Term] id: DOID:9001815 name: Hypertrophy of Masticatory Muscles alt_id: MIM:154850 synonym: "Masseter Muscle Hypertrophy" EXACT [] xref: MESH:C563600 is_a: DOID:9000040 ! Hypertrophy [Term] id: DOID:9001816 name: Epidermitis, Exudative, of Swine def: "An acute generalized dermatitis of pigs which occurs from 5 to 35 days of age, characterized by sudden onset, with morbidity of 10 to 90% and mortality of 5 to 90%. The lesions are caused by Staphylococcus hyos but the bacterial agent is unable to penetrate the intact skin. Abrasions on the feet and legs or lacerations on the body frequently precede infection. In acute cases, a vesicular-type virus may be the predisposing factor. The causative organism is inhibited by most antibiotics. (Merck Veterinary Manual, 5th ed)" [MESH:D004818] synonym: "Exudative Dermatitis of Swine" EXACT [] synonym: "Greasy Pig Disease" EXACT [] synonym: "Swine Exudative Dermatitides" EXACT [] synonym: "Swine Exudative Dermatitis" EXACT [] xref: MESH:D004818 xref: RDO:0005505 is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9001817 name: Lopes Gorlin Syndrome alt_id: MIM:600269 synonym: "Short tarsus absence of lower eyelashes" EXACT [] synonym: "Short Tarsus with Absence of Lower Eyelashes" EXACT [] xref: MESH:C537036 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001818 name: Hereditary Motor and Sensory Neuropathy with Excessive Myelin Folding Complex, Autosomal Recessive alt_id: MIM:256855 synonym: "Charcot-Marie-Tooth Disease with Excessive Myelin Folding, Autosomal Recessive" EXACT [] xref: MESH:C564947 is_a: DOID:2477 ! motor peripheral neuropathy [Term] id: DOID:9001820 name: Pulmonary Arterial Hypertension def: "A progressive rare pulmonary disease characterized by high blood pressure in the PULMONARY ARTERY." [MESH:D000081029] synonym: "Drug- or toxin-induced pulmonary arterial hypertension" NARROW [] synonym: "PAH" EXACT [] synonym: "Pulmonary arterial hypertension associated with chronic hemolytic anemia" NARROW [] synonym: "PULMONARY ARTERIAL HYPERTENSION ASSOCIATED WITH CONGENITAL HEART DISEASE" NARROW [] synonym: "Pulmonary arterial hypertension associated with HIV infection" NARROW [] synonym: "Pulmonary arterial hypertension associated with portal hypertension" NARROW [] synonym: "Pulmonary arterial hypertension associated with schistosomiasis" NARROW [] xref: EFO:0001361 xref: EFO:0001362 xref: EFO:0009054 xref: EFO:0009192 xref: EFO:0009194 xref: EFO:0009195 xref: EFO:0009197 xref: EFO:0009198 xref: MESH:D000081029 is_a: DOID:6432 ! pulmonary hypertension created_by: slaulede creation_date: 2020-02-07T12:09:22Z [Term] id: DOID:9001821 name: Psychogenic Polydipsia def: "A clinical disorder characterized by excessive fluid intake (polydipsia); HYPONATREMIA; and POLYURIA in SCHIZOPHRENIA and other psychiatric disorders. Impaired water metabolism in psychogenic polydipsia can result in WATER INTOXICATION." [MESH:D059607] synonym: "Primary Polydipsia" EXACT [] synonym: "Primary Polydipsias" EXACT [] synonym: "Psychogenic Polydipsias" EXACT [] xref: MESH:D059607 is_a: DOID:9006727 ! Polydipsia [Term] id: DOID:9001822 name: Acquired Protein S Deficiency xref: MESH:C567077 xref: RDO:0015254 is_a: DOID:2451 ! protein S deficiency [Term] id: DOID:9001823 name: Commotio Cordis def: "A sudden CARDIAC ARRHYTHMIA (e.g., VENTRICULAR FIBRILLATION) caused by a blunt, non-penetrating impact to the precordial region of chest wall. Commotio cordis often results in sudden death without prompt cardiopulmonary defibrillation." [MESH:D056104] synonym: "Cardiac Concussion" EXACT [] synonym: "Cardiac Concussions" EXACT [] xref: EFO:1001781 xref: MESH:D056104 is_a: DOID:9000064 ! Cardiac Arrhythmias is_a: DOID:9003131 ! Myocardial Contusions [Term] id: DOID:9001824 name: Noonan Syndrome 14 def: "A recessive developmental disorder within the RASopathy clinical spectrum. Caused by homozygous mutation in the SPRED2 gene on chromosome 2p14." [MIM:619745] synonym: "NS14" EXACT [] xref: MIM:619745 xref: MONDO:0030679 is_a: DOID:3490 ! Noonan syndrome created_by: mtutaj creation_date: 2022-02-11T14:11:52Z [Term] id: DOID:9001826 name: Congenital Universal Muscular Hypoplasia of Krabbe alt_id: MIM:159100 xref: MESH:C563553 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9001827 name: Critical Illness def: "A disease or state in which death is possible or imminent." [MESH:D016638] synonym: "Critical Illnesses" EXACT [] synonym: "Critically Ill" EXACT [] xref: MESH:D016638 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9001828 name: Cardiac Form of Generalized Glycogenosis alt_id: RDO:0002540 synonym: "cardiomegalia glycogenica diffusa" EXACT [] synonym: "generalized glycogenosis, cardiac form" EXACT [] xref: MESH:C536839 is_a: DOID:2752 ! glycogen storage disease II [Term] id: DOID:9001829 name: Cerebrovascular Trauma def: "Penetrating and nonpenetrating traumatic injuries to an extracranial or intracranial blood vessel that supplies the brain. This includes the CAROTID ARTERIES; VERTEBRAL ARTERIES; MENINGEAL ARTERIES; CEREBRAL ARTERIES; veins, and venous sinuses." [MESH:D020214] synonym: "Brain Vascular Injury" EXACT [] synonym: "Brain Vascular Trauma" EXACT [] synonym: "Vascular Brain Injuries" EXACT [] synonym: "vascular brain injury" EXACT [] synonym: "Vascular Traumas, Brain" EXACT [] xref: EFO:0006791 xref: MESH:D020214 xref: RDO:0007347 is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9006062 ! Nervous System Trauma [Term] id: DOID:9001830 name: 46,Xy Gonadal Dysgenesis, Complete, Sry-Related synonym: "Gonadal Dysgenesis, Xy Female Type" EXACT [] xref: MESH:C567574 is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:9001831 name: Lichen Sclerosus et Atrophicus alt_id: MIM:151590 def: "A chronic inflammatory mucocutaneous disease usually affecting the female genitalia (VULVAR LICHEN SCLEROSUS) and BALANITIS XEROTICA OBLITERANS in males. It is also called white spot disease and Csillag's disease." [MESH:D018459] synonym: "lichen scleroses" EXACT [] synonym: "Lichen Sclerosis" EXACT [] synonym: "Lichen Sclerosis et Atrophicus" EXACT [] synonym: "lichen sclerosus" EXACT [] xref: MESH:D018459 is_a: DOID:8574 ! lichen disease [Term] id: DOID:9001832 name: Uterine Inertia def: "Failure of the UTERUS to contract with normal strength, duration, and intervals during childbirth (LABOR, OBSTETRIC). It is also called uterine atony." [MESH:D014593] synonym: "Uterine Atony" EXACT [] xref: EFO:1001863 xref: MESH:D014593 is_a: DOID:9008893 ! Dystocia [Term] id: DOID:9001833 name: Myopia 23, Autosomal Recessive alt_id: RDO:9001112 synonym: "myopia-23" EXACT [] synonym: "MYP23" EXACT [] synonym: "RARE ISOLATED MYOPIA" EXACT [] xref: MIM:615431 is_a: DOID:11830 ! myopia [Term] id: DOID:9001834 name: Peritoneal Neoplasms alt_id: RDO:0006115 def: "Tumors or cancer of the PERITONEUM." [MESH:D010534] synonym: "peritoneal neoplasm" EXACT [] xref: EFO:1001100 xref: MESH:D010534 is_a: DOID:9003078 ! Abdominal Neoplasms is_a: DOID:9004351 ! Digestive System Neoplasms is_a: DOID:9006175 ! Peritoneal Diseases [Term] id: DOID:9001835 name: Nonimmune Hydrops Fetalis, with Gracile Bones and Dysmorphic Features alt_id: MIM:613124 xref: MESH:C567731 is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008386 ! Hydrops Fetalis [Term] id: DOID:9001836 name: Cardiac Conduction Defect xref: EFO:0005304 xref: EFO:1001497 xref: MIM:115080 is_a: DOID:0050451 ! Brugada syndrome [Term] id: DOID:9001837 name: Transfusion Reaction def: "Complications of BLOOD TRANSFUSION." [MESH:D065227] synonym: "Acute Hemolytic Transfusion Reaction" EXACT [] synonym: "Delayed Hemolytic Transfusion Reaction" EXACT [] synonym: "DOMBROCK BLOOD GROUP" RELATED [] synonym: "DOMBROCK-NULL PHENOTYPE" RELATED [] synonym: "Hemolytic Transfusion Reaction" EXACT [] synonym: "Hemolytic Transfusion Reactions" EXACT [] synonym: "Transfusion Reactions" EXACT [] xref: MESH:D065227 xref: RDO:0015967 is_a: DOID:2914 ! immune system disease is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:9001839 name: Cleidocranial Dysplasia, Recessive Form alt_id: MIM:216330 xref: MESH:C565843 is_a: DOID:13994 ! cleidocranial dysplasia [Term] id: DOID:9001840 name: Immunodeficiency 78 with Autoimmunity and Developmental Delay def: "An autosomal recessive systemic disorder characterized by onset of symptoms in early childhood. Caused by homozygous or compound heterozygous mutation in the TPP2 gene on chromosome 13q33. (OMIM)" [] synonym: "IMD78" EXACT [] synonym: "TPP2 deficiency" EXACT [] xref: MIM:619220 is_a: DOID:417 ! autoimmune disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2021-03-16T15:11:46Z [Term] id: DOID:9001841 name: Syphilitic Myelopathy (tabes dorsalis) xref: MESH:C536776 is_a: DOID:10027 ! tabes dorsalis [Term] id: DOID:9001842 name: Kaler Garrity Stern Syndrome alt_id: MIM:259690 synonym: "Osteopenia and sparse hair" EXACT [] synonym: "Osteopenia mental retardation sparse hair" EXACT [] xref: MESH:C537706 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:9001843 name: Selective Tooth Agenesis 8 synonym: "STHAG8" EXACT [] xref: MIM:617073 is_a: DOID:0050591 ! tooth agenesis [Term] id: DOID:9001844 name: Angular Pregnancy def: "A rare type of abnormal pregnancy in which EMBRYO IMPLANTATION occurs at a lateral angle of the UTERUS, medial to the uterotubal junction and the ROUND LIGAMENT OF UTERUS." [MESH:D065170] synonym: "Angular Pregnancies" EXACT [] xref: MESH:D065170 is_a: DOID:0060329 ! ectopic pregnancy [Term] id: DOID:9001845 name: Hypogonadotropic Hypogonadism 25 with Anosmia synonym: "HH25" EXACT [] xref: MIM:618841 is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:9000378 ! Congenital Anosmia created_by: slaulede creation_date: 2020-04-02T17:24:03Z [Term] id: DOID:9001846 name: Schizoaffective Disorder, Depressive Type alt_id: RDO:9000393 synonym: "Schizophreniform psychosis, depressive type" EXACT [] is_a: DOID:5418 ! schizoaffective disorder created_by: rgd creation_date: 2016-02-11T00:00:00Z [Term] id: DOID:9001847 name: Unilateral Breast Neoplasms def: "Tumors or cancer found specifically in one human BREAST, but not in both." [MESH:D000069584] synonym: "Breast Neoplasm, Unilateral" EXACT [] synonym: "Left Sided Breast Cancer" EXACT [] synonym: "left-sided breast cancers" EXACT [] synonym: "Left Sided Breast Neoplasm" EXACT [] synonym: "Left Sided Breast Neoplasms" EXACT [] synonym: "Right Sided Breast Cancer" EXACT [] synonym: "Right-Sided Breast Cancers" EXACT [] synonym: "Right Sided Breast Neoplasm" EXACT [] synonym: "right sided breast neoplasms" EXACT [] synonym: "unilateral breast cancer" EXACT [] synonym: "unilateral breast cancers" EXACT [] xref: MESH:D000069584 is_a: DOID:9008939 ! Breast Neoplasms [Term] id: DOID:9001848 name: Extensor Tendons of Fingers, Anomalous Insertion of alt_id: MIM:187390 xref: MESH:C566068 is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9001851 name: Craniosynostosis, Philadelphia Type xref: MESH:C563368 xref: RDO:0012643 is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9001852 name: Stomatodynia xref: MESH:C531639 xref: RDO:0000065 is_a: DOID:4331 ! burning mouth syndrome [Term] id: DOID:9001855 name: Hereditary Prosopagnosia alt_id: MIM:610382 synonym: "congenital prosopagnosia" EXACT [] synonym: "face blindness" EXACT [] xref: MESH:C537242 is_a: DOID:4970 ! prosopagnosia [Term] id: DOID:9001856 name: Spondylocostal Dysostosis 4, Autosomal Dominant alt_id: RDO:0013874 synonym: "Spondylocostal Dysplasia, Dominant Form" EXACT [] synonym: "Spondylothoracic Dysostosis, Autosomal Dominant" EXACT [] xref: MESH:C565149 is_a: DOID:0050568 ! spondylocostal dysostosis [Term] id: DOID:9001857 name: Intestinal Type Adenocarcinoma def: "This is an adenocarcinoma arising from epithelium which has undergone intestinal metaplasia. Representative examples include gastric, gallbladder, and ampulla of Vater intestinal type adenocarcinomas." [NCI:C4126] synonym: "Adenocarcinoma, intestinal type" EXACT [] synonym: "Carcinoma, intestinal type" EXACT [] synonym: "Intestinal-Type Adenocarcinoma" EXACT [] synonym: "Intestinal Type Carcinoma" EXACT [] xref: EFO:1000304 is_a: DOID:299 ! adenocarcinoma created_by: slaulede creation_date: 2023-02-09T15:56:09Z [Term] id: DOID:9001858 name: Lathosterolosis synonym: "3-beta-hydroxysteroid-delta(5)-desaturase deficiency" EXACT [] synonym: "Deficiency of 3-beta-hydroxysteroid-delta(5)-desaturase" EXACT [] synonym: "SC5D deficiency" EXACT [] synonym: "Sterol C5-Desaturase Deficiency" EXACT [] xref: MESH:C537880 xref: MIM:607330 xref: MONDO:0011816 is_a: DOID:1701 ! steroid inherited metabolic disorder [Term] id: DOID:9001860 name: Thrombocytopenia Absent Ulnar Syndrome xref: MESH:C536944 xref: RDO:0002672 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome [Term] id: DOID:9001861 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES def: "A disease characterized by onset of hypotonia and variably impaired global developmental delay in infancy." [MIM:618748] synonym: "IDDHBA" EXACT [] xref: MIM:618748 is_a: DOID:1059 ! intellectual disability is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2020-02-13T17:58:06Z [Term] id: DOID:9001862 name: Crigler Najjar Syndrome, Type 2 alt_id: MIM:606785 synonym: "Crigler-Najjar Syndrome, Type II" EXACT [] synonym: "HBLRCN2" EXACT [] synonym: "HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II" EXACT [] xref: MESH:C536213 xref: RDO:0001695 is_a: DOID:3803 ! Crigler-Najjar syndrome [Term] id: DOID:9001863 name: PINEAL HYPERPLASIA, INSULIN-RESISTANT DIABETES MELLITUS, AND SOMATIC ABNORMALITIES synonym: "MENDENHALL SYNDROME" EXACT [] synonym: "PINEAL HYPERPLASIA AND DIABETES MELLITUS SYNDROME" EXACT [] synonym: "RABSON-MENDENHALL SYNDROME" EXACT [] xref: MIM:262190 is_a: DOID:9002221 ! Hyperplasia is_a: DOID:9351 ! diabetes mellitus created_by: slaulede creation_date: 2019-09-16T18:17:12Z [Term] id: DOID:9001864 name: Chudley-Rozdilsky Syndrome alt_id: MIM:253320 synonym: "Chudley syndrome" EXACT [] synonym: "MULTICORE MYOPATHY WITH MENTAL RETARDATION, SHORT STATURE, AND HYPOGONADOTROPIC HYPOGONADISM" EXACT [] xref: MESH:C535458 is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:3529 ! congenital myopathy 1A [Term] id: DOID:9001865 name: Myeloid Leukemia, Accelerated Phase def: "The phase of chronic myeloid leukemia following the chronic phase (LEUKEMIA, MYELOID, CHRONIC-PHASE), where there are increased systemic symptoms, worsening cytopenias, and refractory LEUKOCYTOSIS." [MESH:D015465] synonym: "Leukemia, Myelogenous, Aggressive Phase" EXACT [] synonym: "Leukemia, Myeloid, Aggressive-Phase" EXACT [] synonym: "Myelogenous Leukemia, Chronic, Aggressive Phase" EXACT [] synonym: "Myeloid Leukemia, Chronic, Accelerated Phase" EXACT [] synonym: "Myeloid Leukemia, Chronic, Aggressive Phase" EXACT [] xref: EFO:1001755 xref: MESH:D015465 is_a: DOID:8552 ! chronic myeloid leukemia [Term] id: DOID:9001866 name: Pyogenic Granuloma def: "A disorder of the skin, the oral mucosa, and the gingiva, that usually presents as a solitary polypoid capillary hemangioma often resulting from trauma. It is manifested as an inflammatory response with similar characteristics to those of a granuloma." [MESH:D017789] synonym: "Angiogranuloma" EXACT [] synonym: "Angiogranulomas" EXACT [] synonym: "Granuloma Pyogenicum" EXACT [] synonym: "Granuloma Telangiecticum" EXACT [] synonym: "Lobular Capillary Hemangioma" EXACT [] xref: EFO:0010830 xref: MESH:D017789 is_a: DOID:9002019 ! Granuloma [Term] id: DOID:9001867 name: Occupational Injuries def: "Injuries sustained from incidents in the course of work-related activities." [MESH:D060051] synonym: "Occupational Injury" EXACT [] xref: MESH:D060051 xref: RDO:0010032 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001868 name: Short QT Syndrome 3 alt_id: MIM:609622 synonym: "SHORT QT SYNDROME TYPE 3" EXACT [] synonym: "SQT3" EXACT [] xref: MESH:C566504 is_a: DOID:0050793 ! short QT syndrome is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9001869 name: Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia alt_id: MIM:608624 xref: MESH:C563896 is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9970 ! obesity [Term] id: DOID:9001870 name: Osteoporosis, Childhood- or Juvenile-Onset, with Developmental Delay def: "Characterized by evidence of osteopenia or osteoporosis, with recurrent fractures following minor trauma in some patients. Developmental delay is variable. Caused by heterozygous mutation in the COPB2 gene on chromosome 3q23." [MIM:619884] synonym: "COPB2-RELATED CONDITION" BROAD [] synonym: "OPDD" EXACT [] xref: MIM:619884 is_a: DOID:11476 ! osteoporosis is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-05-31T07:44:09Z [Term] id: DOID:9001871 name: Hypogonadotropic Hypogonadism and Anosmia, Autosomal Dominant xref: MESH:C538534 xref: RDO:0004478 is_a: DOID:3614 ! Kallmann syndrome [Term] id: DOID:9001872 name: Ulna Fractures def: "Fractures of the larger bone of the forearm." [MESH:D014458] synonym: "Ulna Fracture" EXACT [] xref: EFO:0003950 xref: MESH:D014458 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9004279 ! Forearm Injuries [Term] id: DOID:9001873 name: Camptodactyly Taurinuria synonym: "Camptodactyly with Taurinuria" EXACT [] xref: MESH:C537972 is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9001874 name: Pseudouridinuria and Mental Defect alt_id: MIM:264500 xref: MESH:C564864 is_a: DOID:1059 ! intellectual disability is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:9001875 name: Short-Limb Skeletal Dysplasia with Severe Combined Immunodeficiency alt_id: MIM:200900 synonym: "SLSD with SCID" EXACT [] synonym: "so-called achondroplasia and severe combined immunodeficiency" EXACT [] xref: MESH:C565984 is_a: DOID:4480 ! achondroplasia is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:9001876 name: Bardet-Biedl Syndrome 2/4, Digenic xref: RDO:9001189 is_a: DOID:0110124 ! Bardet-Biedl syndrome 2 is_a: DOID:0110126 ! Bardet-Biedl syndrome 4 created_by: rgd creation_date: 2016-06-08T00:00:00Z [Term] id: DOID:9001877 name: Multiform Ventricular Extrasystoles with Short Stature, Hyperpigmentation and Microcephaly alt_id: MIM:133750 xref: MESH:C565032 is_a: DOID:10907 ! microcephaly is_a: DOID:9002737 ! Premature Cardiac Complexes is_a: DOID:9003984 ! Hyperpigmentation is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001878 name: Disorders of Environmental Origin def: "Disorders caused by external forces rather than by physiologic dysfunction or by pathogens." [MESH:D007280] xref: MESH:D007280 is_a: DOID:4 ! disease [Term] id: DOID:9001879 name: Androgenetic Alopecia 3 alt_id: MIM:612421 alt_id: RDO:0015425 synonym: "AGA3" EXACT [] xref: MESH:C567317 is_a: DOID:987 ! alopecia [Term] id: DOID:9001880 name: Testicular Microlithiasis alt_id: MIM:610441 xref: MESH:C566478 is_a: DOID:2519 ! testicular disease is_a: DOID:9005602 ! Calculi [Term] id: DOID:9001881 name: TRIOKINASE AND FMN CYCLASE DEFICIENCY SYNDROME def: "This is is a multisystem disease with possible issues including cataract, developmental delay, liver dysfunction, microcytic anemia, and cerebellar hypoplasia." [MIM:618805] synonym: "TKFCD" EXACT [] xref: MIM:618805 is_a: DOID:83 ! cataract is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2021-11-01T12:15:01Z [Term] id: DOID:9001882 name: Macleod Fraser syndrome xref: MESH:C537715 xref: RDO:0003603 is_a: DOID:225 ! syndrome is_a: DOID:9006836 ! Contracture [Term] id: DOID:9001884 name: Adenolymphoma def: "A benign tumor characterized histologically by tall columnar epithelium within a lymphoid tissue stroma. It is usually found in the salivary glands, especially the parotid." [MESH:D000235] synonym: "adenolymphomas" EXACT [] synonym: "Papillary Cystadenoma Lymphomatosum" EXACT [] synonym: "Warthin Tumor" EXACT [] xref: EFO:1000625 xref: MESH:D000235 is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:9001885 name: Nuclear Type Mitochondrial Complex I Deficiency 38 def: "Characterized by bilateral synchronous or asynchronous vision loss with variable recovery of visual acuity. Caused by homozygous mutation in the DNAJC30 gene on chromosome 7q11. (OMIM)" [] synonym: "Leber hereditary optic neuropathy, autosomal recessive" EXACT [] synonym: "Leber hereditary optic neuropathy, autosomal recessive 1" EXACT [] synonym: "LHONAR" EXACT [] synonym: "LHONAR1" EXACT [] synonym: "MC1DN38" EXACT [] xref: MIM:619382 xref: MONDO:0958183 is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency is_a: DOID:705 ! Leber hereditary optic neuropathy created_by: mtutaj creation_date: 2021-06-23T10:49:02Z [Term] id: DOID:9001887 name: Hyperferritinemia def: "A finding of elevated serum level of FERRITIN. It is often associated with IRON OVERLOAD, repeated blood transfusions, malignancy, iron metabolic syndromes, virus infection, liver injury or dysfunction, and renal failure. Hyperferritinemia in iron metabolic syndromes (e.g., Still's diseases, and HEMOPHAGOCYTIC SYNDROME) is referred to as dysmetabolic hyperferritinemia. (MESH)" [] synonym: "Dysmetabolic Hyperferritinemia" EXACT [] synonym: "Elevated Serum Ferritin" EXACT [] synonym: "Raised Serum Ferritin" EXACT [] synonym: "Ultrahyperferritinemia" EXACT [] xref: MESH:D000085583 is_a: DOID:2351 ! iron metabolism disease created_by: mtutaj creation_date: 2021-02-19T15:30:08Z [Term] id: DOID:9001888 name: Hypothalamic Obesity def: "Involves intractable weight gain after hypothalamic damage" [PMID:19202508] is_a: DOID:1931 ! hypothalamic disease created_by: slaulede creation_date: 2018-10-02T13:51:06Z [Term] id: DOID:9001889 name: Spondyloepimetaphyseal Dysplasia with Abnormal Dentition alt_id: MIM:601668 alt_id: RDO:0014949 synonym: "SEMDAD" EXACT [] xref: MESH:C566644 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9001890 name: Auditory Neuropathy synonym: "Auditory dys-synchrony" EXACT [] synonym: "Familial auditory neuropathy" EXACT [] synonym: "Progressive auditory neuropathy" EXACT [] xref: MESH:C538268 xref: MIM:PS609129 is_a: DOID:0060140 ! cortical deafness [Term] id: DOID:9001891 name: Atrial Septal Defect, Secundum Type xref: MESH:C566241 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:9001892 name: Viljoen Kallis Voges Syndrome xref: MESH:C536349 xref: RDO:0001900 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9001893 name: Spondylohypoplasia, Arthrogryposis and Popliteal Pterygium xref: MESH:C535790 xref: RDO:0001097 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001895 name: Immunoglobulin A Deficiency 2 alt_id: MIM:609529 synonym: "IGAD2" EXACT [] synonym: "Iga, selective deficiency of, taci-related" EXACT [] synonym: "Immunoglobulin a, selective deficiency of, taci-related" EXACT [] xref: MESH:C536291 xref: RDO:0001815 is_a: DOID:0060025 ! immunoglobulin alpha deficiency [Term] id: DOID:9001896 name: Cervical Vertebral Dysplasia alt_id: MIM:118005 xref: MESH:C566140 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9001897 name: MOTOR NEURON ATROPHY def: "Wasting and degeneration of motor neurons causing retrogressive impairment of function or destruction of the cells that innervate an effector (muscle or glandular) tissue." [HP:0007373, MP:0000938] synonym: "loss of motor neurons" EXACT [] synonym: "motoneuron degeneration" EXACT [] synonym: "Motor neuron degeneration" EXACT [] is_a: DOID:231 ! motor neuron disease created_by: slaulede creation_date: 2020-11-03T15:22:18Z [Term] id: DOID:9001898 name: Aughton Syndrome alt_id: MIM:221950 synonym: "Dextrocardia, microphthalmia, cleft palate, and mental retardation" EXACT [] synonym: "Dextrocardia with unusual facies and microphthalmia" EXACT [] xref: MESH:C538269 is_a: DOID:1059 ! intellectual disability is_a: DOID:10629 ! microphthalmia is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9565 ! dextrocardia [Term] id: DOID:9001899 name: Triglyceride Storage Disease, Type I alt_id: MIM:190420 xref: MESH:C566031 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9001900 name: Arnold-Chiari Malformation alt_id: MIM:118420 alt_id: MIM:207950 def: "A group of congenital malformations involving the brainstem, cerebellum, upper spinal cord, and surrounding bony structures. Type II is the most common, and features compression of the medulla and cerebellar tonsils into the upper cervical spinal canal and an associated MENINGOMYELOCELE. Type I features similar, but less severe malformations and is without an associated meningomyelocele. Type III has the features of type II with an additional herniation of the entire cerebellum through the bony defect involving the foramen magnum, forming an ENCEPHALOCELE. Type IV is a form a cerebellar hypoplasia. Clinical manifestations of types I-III include TORTICOLLIS; opisthotonus; HEADACHE; VERTIGO; VOCAL CORD PARALYSIS; APNEA; NYSTAGMUS, CONGENITAL; swallowing difficulties; and ATAXIA. (From Menkes, Textbook of Child Neurology, 5th ed, p261; Davis, Textbook of Neuropathology, 2nd ed, pp236-46)" [MESH:D001139] synonym: "Arnold Chiari Deformity" EXACT [] synonym: "Arnold Chiari Malformation, Type 1" EXACT [] synonym: "Arnold Chiari Malformation, Type 2" EXACT [] synonym: "Arnold Chiari Malformation, Type 3" EXACT [] synonym: "Arnold Chiari Malformation, Type 4" EXACT [] synonym: "Arnold Chiari Malformation Type I" EXACT [] synonym: "Arnold Chiari Malformation Type II" EXACT [] synonym: "Arnold Chiari Malformation Type III" EXACT [] synonym: "Arnold Chiari Malformation Type IV" EXACT [] synonym: "Arnold Chiari Syndrome" EXACT [] synonym: "Chiari Malformation Type 2" EXACT [] synonym: "Chiari Malformation Type I" EXACT [] synonym: "Chiari Malformation Type II" EXACT [] xref: MESH:D001139 xref: NCI:C84570 is_a: DOID:0080074 ! neural tube defect [Term] id: DOID:9001901 name: Branchial Myoclonus with Spastic Paraparesis and Cerebellar Ataxia alt_id: MIM:113610 xref: MESH:C566188 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:9002598 ! Spastic Paraparesis is_a: DOID:9007722 ! Myoclonus [Term] id: DOID:9001902 name: cutaneous nodular amyloidosis def: "This disease is the rarest form of primary cutaneous amyloidosis, a skin disease characterized by the accumulation of amyloid deposits in the dermis, characterized clinically by yellowish waxy crusted nodules and papules on the face, lower extremities, trunk, scalp, and genitalia and histologically by the localized deposition of immunoglobulin-derived amyloid in the papillary dermis and subcutis." [ORPHA:137810] synonym: "PLCNA" EXACT [] synonym: "primary localized cutaneous nodular amyloidosis" EXACT [] xref: EFO:1001882 is_a: DOID:0050639 ! primary cutaneous amyloidosis created_by: slaulede creation_date: 2022-09-23T15:14:34Z [Term] id: DOID:9001903 name: Petty Laxova Wiedemann Syndrome xref: MESH:C537886 is_a: DOID:225 ! syndrome is_a: DOID:3911 ! progeria is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001904 name: Sinus Histiocytosis alt_id: RDO:0000487 def: "Benign, non-Langerhans-cell, histiocytic proliferative disorder that primarily affects the lymph nodes. It is often referred to as sinus histiocytosis with massive lymphadenopathy." [MESH:D015618] synonym: "Destombes Rosai Dorfman Syndrome" EXACT [] synonym: "Rosai Dorfman Disease" EXACT [] synonym: "Sinus Histiocytoses" EXACT [] synonym: "Sinus Histiocytosis with Massive Lymphadenopathy" EXACT [] xref: MESH:D015618 is_a: DOID:4330 ! non-Langerhans-cell histiocytosis [Term] id: DOID:9001905 name: Hereditary Motor and Sensory Neuropathy, Okinawa Type alt_id: MIM:604484 synonym: "hereditary motor and sensory neuropathy, proximal type" EXACT [] synonym: "HMSNO" EXACT [] synonym: "HMSNP" EXACT [] xref: MESH:C535717 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 [Term] id: DOID:9001906 name: Hereditary Hemorrhagic Telangiectasia, Type 5 synonym: "HHT5" EXACT [] xref: MIM:615506 xref: MONDO:0014217 is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia [Term] id: DOID:9001907 name: Spastic Paraplegia, Optic Atrophy, and Dementia alt_id: MIM:182830 xref: MESH:C566679 is_a: DOID:1307 ! dementia is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:9001909 name: Diaphragmatic Hernia 4 def: "An autosomal recessive congenital anomaly syndrome characterized by the presence of diaphragmatic hernia or eventration apparent at birth. Caused by compound heterozygous mutation in the ALDH1A2 gene on chromosome 15q21." [MIM:620025] synonym: "Diaphragmatic hernia 4, with cardiovascular defects" EXACT [] synonym: "DIH4" EXACT [] xref: MIM:620025 is_a: DOID:3827 ! congenital diaphragmatic hernia created_by: mtutaj creation_date: 2022-09-06T09:21:20Z [Term] id: DOID:9001910 name: Progressive Familial Intrahepatic Cholestasis 12 def: "A disease characterized by neonatal-onset jaundice and conjugated hyperbilirubinemia, associated with intense pruritus. Caused by homozygous or compound heterozygous mutation in the VPS33B gene on chromosome 15q26." [MIM:620010] synonym: "CHOLESTASIS, ISOLATED LOW-GGT" EXACT [] synonym: "PFIC12" EXACT [] xref: MIM:620010 is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis created_by: mtutaj creation_date: 2022-08-22T09:32:38Z [Term] id: DOID:9001911 name: Craniosynostosis and Dental Anomalies synonym: "craniosynostosis-dental anomalies" EXACT [] synonym: "CRSDA" EXACT [] synonym: "Kreiborg-Pakistani syndrome" EXACT [] xref: MIM:614188 xref: MONDO:0013615 xref: ORDO:284149 is_a: DOID:2340 ! craniosynostosis is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9001912 name: Macrocephaly, Alopecia, Cutis Laxa, and Scoliosis alt_id: MIM:613075 synonym: "MACS syndrome" EXACT [] synonym: "RIN2-RELATED CONDITION" EXACT [] synonym: "tall forehead, sparse hair, skin hyperextensibility, and scoliosis" EXACT [] xref: MESH:C567770 is_a: DOID:0060249 ! scoliosis is_a: DOID:3144 ! cutis laxa is_a: DOID:9003816 ! Macrocephaly is_a: DOID:987 ! alopecia [Term] id: DOID:9001913 name: Soft Tissue Injuries def: "Injuries of tissue other than bone. The concept is usually general and does not customarily refer to internal organs or viscera. It is meaningful with reference to regions or organs where soft tissue (muscle, fat, skin) should be differentiated from bones or bone tissue, as 'soft tissue injuries of the hand'." [MESH:D017695] synonym: "Soft Tissue Injury" EXACT [] xref: MESH:D017695 xref: RDO:0007069 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001914 name: Rhizomelic Dysplasia, Scoliosis, and Retinitis Pigmentosa alt_id: MIM:610319 xref: MESH:C537610 is_a: DOID:0060249 ! scoliosis is_a: DOID:0080006 ! bone development disease is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001915 name: Short Stature with Nonspecific Skeletal Abnormalities 1 synonym: "SNSK" EXACT [] synonym: "SNSK1" EXACT [] xref: MIM:616255 xref: MONDO:0014551 is_a: DOID:9005004 ! Musculoskeletal Abnormalities is_a: DOID:9007661 ! Dwarfism created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:9001916 name: Fetal Death def: "Death of the developing young in utero. BIRTH of a dead FETUS is STILLBIRTH." [MESH:D005313] synonym: "Fetal Deaths" EXACT [] synonym: "Fetal Demise" EXACT [] synonym: "Fetal Mummification" EXACT [] xref: MESH:D005313 xref: RDO:0004621 is_a: DOID:9000543 ! Death is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9001917 name: INTELLECTUAL DEVELOPMENTAL DISORDER AND RETINITIS PIGMENTOSA alt_id: MIM:618195 def: "A disease characterized by mild to moderate intellectual disability and typical features of RP." [MIM:618195] synonym: "IDDRP" EXACT [] is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome created_by: slaulede creation_date: 2020-01-09T18:17:51Z [Term] id: DOID:9001918 name: Exostoses of Heel alt_id: MIM:133600 xref: MESH:C563167 is_a: DOID:206 ! hereditary multiple exostoses [Term] id: DOID:9001919 name: Vascular Neoplasms def: "Neoplasms located in the vasculature system, such as ARTERIES and VEINS. They are differentiated from neoplasms of vascular tissue (NEOPLASMS, VASCULAR TISSUE), such as ANGIOFIBROMA or HEMANGIOMA." [MESH:D019043] synonym: "Vascular Neoplasm" EXACT [] xref: MESH:D019043 xref: RDO:0002750 is_a: DOID:178 ! vascular disease is_a: DOID:9007429 ! Soft Tissue Neoplasms [Term] id: DOID:9001920 name: Microphthalmia/Coloboma 9 synonym: "isolated microphthalmia with coloboma 9" EXACT [] synonym: "MCOPC9" EXACT [] synonym: "MCOPCB9" EXACT [] synonym: "MCOPS15" NARROW [] synonym: "microphthalmia, syndromic 15" NARROW [] xref: MIM:615145 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma [Term] id: DOID:9001921 name: AUTOINFLAMMATORY-PANCYTOPENIA SYNDROME def: "This disease is an autosomal recessive disorder characterized by severe anemia and thrombocytopenia apparent from early infancy, hepatosplenomegaly, and recurrent fevers associated with a hyperinflammatory state. Laboratory studies show increased levels of proinflammatory cytokines and increased expression of interferon-stimulated genes (ISGs)." [MIM:619858] synonym: "AIPCS" EXACT [] synonym: "DNASE2-RELATED CONDITION" EXACT [] xref: MIM:619858 is_a: DOID:12450 ! pancytopenia is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: slaulede creation_date: 2022-06-10T12:25:41Z [Term] id: DOID:9001922 name: Microspherophakia with Hernia alt_id: MIM:157150 xref: MESH:C537468 is_a: DOID:0060320 ! inguinal hernia is_a: DOID:9001251 ! Microspherophakia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001923 name: Foveal Hypoplasia synonym: "Isolated Foveal Hypoplasia" EXACT [] xref: MESH:C565005 xref: MIM:PS136520 is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:9001924 name: RHIZOMELIC DYSPLASIA, AIN-NAZ TYPE def: "This disease is characterized by severe short stature with marked rhizomelic shortening of the limbs, platyspondyly, and large hands and feet relative to height." [MIM:619598] synonym: "Ain-Naz type of rhizomelic dysplasia" EXACT [] synonym: "RHZDAN" EXACT [] xref: MIM:619598 is_a: DOID:0080006 ! bone development disease created_by: slaulede creation_date: 2022-02-14T15:35:54Z [Term] id: DOID:9001925 name: Fecal Impaction def: "Formation of a firm impassable mass of stool in the RECTUM or distal COLON." [MESH:D005244] synonym: "Fecalith" EXACT [] synonym: "Impacted Feces" EXACT [] xref: MESH:D005244 is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:9001926 name: Dilated Cardiomyopathy 2I def: "A disease characterized by early-onset severe congestive heart failure. Caused by homozygous mutation in the CAP2 gene on chromosome 6p22." [MIM:620462] synonym: "CMD2I" EXACT [] xref: MIM:620462 is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2023-08-04T09:57:15Z [Term] id: DOID:9001927 name: Dentin Dysplasia with Sclerotic Bones alt_id: MIM:125440 synonym: "dentin dysplasia, sclerotic bones" EXACT [] xref: MESH:C538213 is_a: DOID:701 ! dentin dysplasia [Term] id: DOID:9001928 name: osteogenesis imperfecta type 22 def: "Osteogenesis imperfecta caused by homozygous mutation in the CCDC134 on chromosome 22q13." [MIM:619795] synonym: "OI22" EXACT [] synonym: "osteogenesis imperfecta type XXII" EXACT [] xref: MIM:619795 is_a: DOID:12347 ! osteogenesis imperfecta created_by: mtutaj creation_date: 2022-03-24T10:50:48Z [Term] id: DOID:9001929 name: Hypoglossal Nerve Injuries def: "Traumatic injuries to the HYPOGLOSSAL NERVE." [MESH:D061228] synonym: "Cranial Nerve XII Injury" EXACT [] synonym: "Hypoglossal Nerve Avulsion" EXACT [] synonym: "Hypoglossal Nerve Avulsions" EXACT [] synonym: "Hypoglossal Nerve Contusion" EXACT [] synonym: "Hypoglossal Nerve Contusions" EXACT [] synonym: "Hypoglossal Nerve Injury" EXACT [] synonym: "Hypoglossal Nerve Transection" EXACT [] synonym: "Hypoglossal Nerve Transections" EXACT [] synonym: "Hypoglossal Nerve Trauma" EXACT [] synonym: "Hypoglossal Nerve Traumas" EXACT [] synonym: "Traumatic Hypoglossal Neuropathies" EXACT [] synonym: "Traumatic Hypoglossal Neuropathy" EXACT [] synonym: "Traumatic Twelfth-Nerve Palsies" EXACT [] synonym: "Traumatic Twelfth Nerve Palsy" EXACT [] synonym: "Twelfth Cranial Nerve Injuries" EXACT [] synonym: "Twelfth Cranial Nerve Injury" EXACT [] synonym: "Twelfth Nerve Trauma" EXACT [] synonym: "Twelfth-Nerve Traumas" EXACT [] xref: MESH:D061228 is_a: DOID:13814 ! hypoglossal nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9001930 name: Choroid Hemorrhage def: "Hemorrhage from the vessels of the choroid." [MESH:D002832] synonym: "Choroidal Hemorrhage" EXACT [] synonym: "Choroidal Hemorrhages" EXACT [] xref: MESH:D002832 is_a: DOID:1417 ! choroid disease is_a: DOID:9004938 ! Eye Hemorrhage [Term] id: DOID:9001931 name: Hereditary Pulmonary Emphysema alt_id: MIM:130700 xref: MESH:C565057 is_a: DOID:9675 ! pulmonary emphysema [Term] id: DOID:9001932 name: Abdominal Injuries def: "General or unspecified injuries involving organs in the abdominal cavity." [MESH:D000007] synonym: "Abdominal Injury" EXACT [] xref: EFO:0009502 xref: MESH:D000007 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001934 name: Neonatal Sepsis def: "Blood infection that occurs in an infant younger than 90 days old. Early-onset sepsis is seen in the first week of life and most often appears within 24 hours of birth. Late-onset occurs after 1 week and before 3 months of age." [MESH:D000071074] synonym: "Neonatal Early-Onset Sepses" EXACT [] synonym: "Neonatal Early Onset Sepsis" EXACT [] synonym: "Neonatal Late-Onset Sepses" EXACT [] synonym: "Neonatal Late Onset Sepsis" EXACT [] synonym: "Neonatal Sepses" EXACT [] xref: MESH:D000071074 is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9004484 ! Sepsis [Term] id: DOID:9001935 name: Michels Caskey Syndrome synonym: "Mullerian aplasia with hypoplastic thumbs" EXACT [] xref: MESH:C537576 xref: MONDO:0043131 is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9005851 ! 46, XX Disorders of Sex Development is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001936 name: Bobble-Head Doll Syndrome xref: MESH:C536241 is_a: DOID:225 ! syndrome is_a: DOID:9007612 ! Arachnoid Cysts is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9001937 name: Congenital Nonspherocytic Hemolytic Anemia 9 synonym: "CNSHA9" EXACT [] synonym: "HAEADA" EXACT [] synonym: "Hemolytic Anemia due to Elevated Adenosine Deaminase" EXACT [] synonym: "Hemolytic Anemia due to Elevated Erythrocyte ADA" EXACT [] xref: MESH:C566314 xref: MIM:301083 xref: MONDO:0020458 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:9001938 name: BADS syndrome synonym: "Black Locks with Albinism and Deafness Syndrome" EXACT [] xref: MESH:C562663 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome [Term] id: DOID:9001939 name: Bartsocas-Papas Syndrome 1 alt_id: MIM:263650 synonym: "Aslan multiple pterygium syndrome" EXACT [] synonym: "BPS1" EXACT [] synonym: "multiple pterygium syndrome, Aslan type" EXACT [] synonym: "popliteal pterygium, lethal type" EXACT [] synonym: "popliteal pterygium syndrome, Bartsocas-Papas type 1, multiple" EXACT [] synonym: "popliteal pterygium syndrome, lethal type" EXACT [] synonym: "pterygium syndrome, Aslan type" EXACT [] xref: MESH:C564874 xref: NCI:C168990 is_a: DOID:0060055 ! popliteal pterygium syndrome [Term] id: DOID:9001940 name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 3 def: "A neurodegenerative disorder characterized by increased head circumference in infancy followed by progressive motor and cognitive decline in early childhood. Caused by heterozygous mutation in the GPRC5B gene on chromosome 16p12." [MIM:620447] synonym: "MLC3" EXACT [] xref: MIM:620447 is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts created_by: mtutaj creation_date: 2023-07-25T09:55:56Z [Term] id: DOID:9001941 name: RECON PROGEROID SYNDROME def: "This disease is a chromosomal instability disorder characterized by postnatal growth retardation, progeroid facial appearance, hypoplastic nose, prominent premaxilla, skin photosensitivity and xeroderma, muscle wasting with reduced subcutaneous fat, and slender elongated thumbs." [MIM:620370] synonym: "RECON" EXACT [] synonym: "RECQL-RELATED CONDITION" EXACT [] xref: MIM:620370 is_a: DOID:0081332 ! progeroid syndrome created_by: slaulede creation_date: 2023-07-21T10:26:17Z [Term] id: DOID:9001942 name: Rajab Interstitial Lung Disease with Brain Calcifications synonym: "Rajab interstitial lung disease with brain calcifications" EXACT [] synonym: "Rajab syndrome" EXACT [] synonym: "RILDBC" EXACT [] xref: MIM:PS613658 is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:3082 ! interstitial lung disease is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2020-09-25T11:57:33Z [Term] id: DOID:9001943 name: Macrosomia Adiposa Congenita alt_id: MIM:248100 xref: MESH:C565425 is_a: DOID:28 ! endocrine system disease is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9001944 name: Histiocytic Dermatoarthritis alt_id: MIM:142730 xref: MESH:C564183 is_a: DOID:848 ! arthritis is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9001945 name: Childhood Absence Epilepsy 6 synonym: "ECA6" EXACT [] synonym: "EIG6" EXACT [] synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 6" RELATED [] synonym: "EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 6" RELATED [] xref: MIM:611942 is_a: DOID:1825 ! childhood absence epilepsy is_a: DOID:1827 ! idiopathic generalized epilepsy created_by: mtutaj creation_date: 2022-10-25T08:15:41Z [Term] id: DOID:9001946 name: Skin Abnormalities def: "Congenital structural abnormalities of the skin." [MESH:D012868] synonym: "Skin Abnormality" EXACT [] xref: MESH:D012868 is_a: DOID:37 ! skin disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9001947 name: Hennekam Lymphangiectasia-Lymphedema Syndrome 2 alt_id: RDO:9000431 synonym: "FAT4-RELATED CONDITION" BROAD [] synonym: "HKLLS2" EXACT [] xref: MIM:616006 is_a: DOID:0060366 ! Hennekam syndrome created_by: rgd creation_date: 2015-07-01T00:00:00Z [Term] id: DOID:9001948 name: Accessory Nerve Injuries def: "Traumatic injuries to the ACCESSORY NERVE. Damage to the nerve may produce weakness in head rotation and shoulder elevation." [MESH:D061227] synonym: "Accessory Nerve Avulsion" EXACT [] synonym: "Accessory Nerve Avulsions" EXACT [] synonym: "Accessory Nerve Contusion" EXACT [] synonym: "Accessory Nerve Contusions" EXACT [] synonym: "Accessory Nerve Injury" EXACT [] synonym: "Accessory Nerve Transection" EXACT [] synonym: "Accessory Nerve Transections" EXACT [] synonym: "Accessory Nerve Trauma" EXACT [] synonym: "Accessory Nerve Traumas" EXACT [] synonym: "Cranial Nerve XI Injury" EXACT [] synonym: "Eleventh Cranial Nerve Injuries" EXACT [] synonym: "Eleventh Cranial Nerve Injury" EXACT [] synonym: "Eleventh Nerve Trauma" EXACT [] synonym: "Eleventh-Nerve Traumas" EXACT [] synonym: "Spinal Accessory Nerve Avulsion" EXACT [] synonym: "Spinal Accessory Nerve Contusion" EXACT [] synonym: "Spinal Accessory Nerve Injury" EXACT [] synonym: "Spinal Accessory Nerve Transection" EXACT [] synonym: "Spinal Accessory Nerve Trauma" EXACT [] synonym: "Spinal Accessory Neuropathy, Traumatic" EXACT [] synonym: "Traumatic Accessory Neuropathies" EXACT [] synonym: "Traumatic Accessory Neuropathy" EXACT [] synonym: "Traumatic Eleventh-Nerve Palsies" EXACT [] synonym: "Traumatic Eleventh Nerve Palsy" EXACT [] xref: MESH:D061227 is_a: DOID:339 ! accessory nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9001949 name: Fungal Eye Infections def: "Infection by a variety of fungi, usually through four possible mechanisms: superficial infection producing conjunctivitis, keratitis, or lacrimal obstruction; extension of infection from neighboring structures - skin, paranasal sinuses, nasopharynx; direct introduction during surgery or accidental penetrating trauma; or via the blood or lymphatic routes in patients with underlying mycoses." [MESH:D015821] synonym: "fungal eye infection" EXACT [] synonym: "Fungal Ocular Infection" EXACT [] synonym: "Fungal Ocular Infections" EXACT [] synonym: "Ocular Mycoses" EXACT [] synonym: "Ocular Mycosis" EXACT [] synonym: "Ocular Mycotic Infection" EXACT [] synonym: "Ocular Mycotic Infections" EXACT [] synonym: "Oculomycoses" EXACT [] synonym: "oculomycosis" EXACT [] xref: MESH:D015821 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:9008201 ! Eye Infections [Term] id: DOID:9001950 name: Ribbonlike Corneal Degeneration with Deafness alt_id: MIM:121450 synonym: "Band Keratopathy with Deafness" EXACT [] xref: MESH:C565157 is_a: DOID:2566 ! corneal dystrophy is_a: DOID:9008681 ! Deafness [Term] id: DOID:9001951 name: Distal Symphalangism alt_id: MIM:185700 xref: HP:0100263 xref: MESH:C566099 xref: MONDO:0008509 xref: ORDO:3248 is_a: DOID:227 ! ankylosis is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9001952 name: Respiratory Tract Fistula def: "An abnormal passage communicating between any component of the respiratory tract or between any part of the respiratory system and surrounding organs." [MESH:D016156] synonym: "Respiratory Tract Fistulas" EXACT [] xref: MESH:D016156 is_a: DOID:1579 ! respiratory system disease is_a: DOID:9007343 ! Fistula [Term] id: DOID:9001953 name: Pneumovirus Infections def: "Infections with viruses of the genus PNEUMOVIRUS, family PARAMYXOVIRIDAE. This includes RESPIRATORY SYNCYTIAL VIRUS INFECTIONS, an important cause of respiratory disease in humans." [MESH:D018186] synonym: "pneumovirus infection" EXACT [] xref: EFO:1001401 xref: MESH:D018186 is_a: DOID:9005956 ! Pneumovirinae infections [Term] id: DOID:9001954 name: Thoracic Injuries def: "General or unspecified injuries to the chest area." [MESH:D013898] synonym: "Chest Injuries" EXACT [] synonym: "Chest Injury" EXACT [] synonym: "Thoracic Injury" EXACT [] xref: MESH:D013898 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001955 name: Diabetic Gastroparesis def: "Chronic delayed gastric emptying associated with DIABETES MELLITUS and characterized by a triad of postprandial symptoms: nausea, vomiting, and abdominal distension." [] synonym: "diabetic gatrointestinal disorder" RELATED [] is_a: DOID:11914 ! gastroparesis [Term] id: DOID:9001956 name: Darier Disease, Acral Hemorrhagic Type xref: MESH:C565125 is_a: DOID:2734 ! keratosis follicularis [Term] id: DOID:9001957 name: Keratosis Palmoplantaris with Periodontopathia and Onychogryposis alt_id: MIM:245010 synonym: "Cochin Jewish disorder" EXACT [] synonym: "Haim-Munk syndrome" EXACT [] synonym: "HMS" EXACT [] xref: MESH:C537627 xref: RDO:0003499 is_a: DOID:3389 ! Papillon-Lefevre disease is_a: DOID:9001402 ! Acro-Osteolysis [Term] id: DOID:9001958 name: Immunodeficiency 77 def: "An immunologic disorder characterized by recurrent and persistent polymicrobial infections with multiple unusual organisms. Caused by heterozygous mutation in the MPEG1 gene on chromosome 11q12. (OMIM)" [] synonym: "IMD77" EXACT [] xref: MIM:619223 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-03-22T11:14:24Z [Term] id: DOID:9001959 name: Cold Injury def: "A physical injury caused by exposure of the body to extremely low ambient temperatures that may lead to loss of body parts, or in extreme cases, death. Examples of cold injury are FROSTBITE and CHILBLAINS." [MESH:D000067390] synonym: "Cold Injuries" EXACT [] xref: MESH:D000067390 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9001960 name: Robin Sequence with Distinctive Facial Appearance and Brachydactyly alt_id: MIM:608670 xref: MESH:C563880 is_a: DOID:0050581 ! brachydactyly is_a: DOID:1059 ! intellectual disability is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9001487 ! Facies [Term] id: DOID:9001961 name: Hyperkalemia def: "Abnormally high potassium concentration in the blood, most often due to defective renal excretion. It is characterized clinically by electrocardiographic abnormalities (elevated T waves and depressed P waves, and eventually by atrial asystole). In severe cases, weakness and flaccid paralysis may occur. (Dorland, 27th ed)" [MESH:D006947] synonym: "Hyperkalemias" EXACT [] synonym: "Hyperpotassemia" EXACT [] synonym: "Hyperpotassemias" EXACT [] xref: MESH:D006947 is_a: DOID:9004004 ! Water-Electrolyte Imbalance [Term] id: DOID:9001962 name: Avian Sarcoma def: "Connective tissue tumors, affecting primarily fowl, that are usually caused by avian sarcoma viruses." [MESH:D001357] synonym: "Avian sarcomas" EXACT [] synonym: "Rous sarcoma" EXACT [] xref: MESH:D001357 is_a: DOID:9004886 ! Tumor Virus Infections is_a: DOID:9005474 ! Experimental Sarcoma is_a: DOID:9006114 ! Bird Diseases is_a: DOID:9006644 ! Retroviridae Infections [Term] id: DOID:9001964 name: Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant alt_id: MIM:165199 xref: MESH:C563497 is_a: DOID:5723 ! optic atrophy is_a: DOID:870 ! neuropathy is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9001965 name: Furukawa Takagi Nakao Syndrome xref: MESH:C538193 xref: RDO:0004135 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:767 ! muscular atrophy is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9001966 name: GABRIELE-DE VRIES SYNDROME def: "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, variable cognitive impairment, often with behavioral problems, feeding problems, some movement abnormalities, and dysmorphic facial features. (OMIM)" [] synonym: "GADEVS" EXACT [] xref: MIM:617557 xref: NCI:C165531 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2017-08-08T00:00:00Z [Term] id: DOID:9001967 name: Ulna Metaphyseal Dysplasia Syndrome alt_id: MIM:191420 synonym: "Hereditary bone dysplasia with characteristic bowing and thickening of the distal ulna" EXACT [] synonym: "Metaphyseal Chondrodysplasia, Rosenberg Type" EXACT [] synonym: "Metaphyseal chondroplasia Rosenberg type" EXACT [] synonym: "Rosenberg Lohr syndrome" EXACT [] xref: MESH:C536935 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9001968 name: Hot Flashes def: "A sudden, temporary sensation of heat predominantly experienced by some women during MENOPAUSE. (Random House Unabridged Dictionary, 2d ed)" [MESH:D019584] xref: MESH:D019584 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9001969 name: O'Donnell-Luria-Rodan Syndrome def: "A neurodevelopmental disorder characterized by global developmental delay, speech delay, variably delayed intellectual development, and subtle dysmorphic features." [MIM:618512] synonym: "ABNORMALITY OF THE CEREBELLAR VERMIS" NARROW [] synonym: "KMT2E-RELATED CONDITION" EXACT [] synonym: "ODLURO" EXACT [] xref: EFO:0010277 xref: MIM:618512 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2019-09-16T14:34:29Z [Term] id: DOID:9001971 name: Kotzot-Richter Syndrome synonym: "Albinism with immune and hematologic defects" EXACT [] synonym: "Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies" EXACT [] xref: MESH:C537025 is_a: DOID:225 ! syndrome is_a: DOID:3753 ! Hermansky-Pudlak syndrome is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9001973 name: Myokymia with Neonatal Epilepsy synonym: "BFNC-Myokymia syndrome" EXACT [] synonym: "Convulsions, benign familial neonatal with Myokymia" EXACT [] synonym: "Epilepsy, benign neonatal, with Myokymia" EXACT [] xref: MESH:C536099 is_a: DOID:14264 ! benign neonatal seizures is_a: DOID:9003935 ! Myokymia [Term] id: DOID:9001974 name: Major Affective Disorder 3 alt_id: MIM:609633 synonym: "Bipolar Affective Disorder, Early-Onset" EXACT [] synonym: "BPEO" EXACT [] synonym: "MAFD3" EXACT [] xref: MESH:C566501 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:9001975 name: Arterivirus Infections def: "Infections caused by viruses of the genus ARTERIVIRUS." [MESH:D018174] synonym: "Arterivirus Infection" EXACT [] synonym: "Arterivirus infectious disease" EXACT [] xref: EFO:0007152 xref: MESH:D018174 xref: RDO:0007092 is_a: DOID:9008504 ! Nidovirales Infections [Term] id: DOID:9001976 name: Presynaptic Congenital Myasthenic Syndrome 7B, Autosomal Recessive def: "This disease is characterized by severe generalized muscle weakness apparent from birth. Affected infants have generalized hypotonia with poor cry and feeding, head lag, and facial muscle weakness with ptosis." [MIM:619461] synonym: "CMS7B" EXACT [] synonym: "SYT2-RELATED CONDITION" BROAD [] xref: MIM:619461 xref: MONDO:0030341 is_a: DOID:3635 ! congenital myasthenic syndrome created_by: slaulede creation_date: 2021-10-21T11:16:49Z [Term] id: DOID:9001977 name: Corpse Dismemberment def: "Disjoining the limbs or other parts of a corpse, often in association with criminal acts." [MESH:D056146] synonym: "Cadaver Dismemberment" EXACT [] synonym: "Cadaver Dismemberments" EXACT [] synonym: "Corpse Dismemberments" EXACT [] xref: MESH:D056146 is_a: DOID:9000656 ! Penetrating Wounds is_a: DOID:9002290 ! Cadaver [Term] id: DOID:9001979 name: Amaurosis Hypertrichosis alt_id: MIM:204110 synonym: "Amaurosis Congenita, Cone-Rod Type, with Congenital Hypertrichosis" EXACT [] synonym: "Cone-rod congenital amaurosis associated with congenital hypertrichosis" EXACT [] synonym: "cone-rod type congenital amaurosis with congenital hypertrichosis" EXACT [] xref: MESH:C536604 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:14791 ! Leber congenital amaurosis is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9001980 name: Feline Infectious Peritonitis def: "Common coronavirus infection of cats caused by the feline infectious peritonitis virus (CORONAVIRUS, FELINE). The disease is characterized by a long incubation period, fever, depression, loss of appetite, wasting, and progressive abdominal enlargement. Infection of cells of the monocyte-macrophage lineage appears to be essential in FIP pathogenesis." [MESH:D016766] synonym: "Feline Infectious Peritonitides" EXACT [] xref: MESH:D016766 is_a: DOID:0080599 ! Coronavirus infectious disease is_a: DOID:9005924 ! Cat Diseases [Term] id: DOID:9001981 name: Weight Loss def: "Decrease in existing BODY WEIGHT." [MESH:D015431] synonym: "Weight Losses" EXACT [] synonym: "Weight Reduction" EXACT [] synonym: "Weight Reductions" EXACT [] xref: MESH:D015431 is_a: DOID:9003287 ! Body Weight Changes [Term] id: DOID:9001982 name: Ehlers-Danlos Syndrome, Autosomal Dominant, Type Unspecified alt_id: MIM:130090 synonym: "EDS, unspecified" EXACT [] synonym: "Ehlers-Danlos Syndrome, Friedman-Harrod Type" EXACT [] xref: MESH:C562424 is_a: DOID:13359 ! Ehlers-Danlos syndrome [Term] id: DOID:9001983 name: Harderoporphyria alt_id: MIM:618892 synonym: "HARPO" EXACT [] xref: MESH:C562816 is_a: DOID:13269 ! hereditary coproporphyria [Term] id: DOID:9001984 name: Fetal Diseases def: "Pathophysiological conditions of the FETUS in the UTERUS. Some fetal diseases may be treated with FETAL THERAPIES." [MESH:D005315] synonym: "Embryopathies" EXACT [] synonym: "Embryopathy" EXACT [] synonym: "Fetal Disease" EXACT [] xref: MESH:D005315 is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9001985 name: Transmissible Enteritis, of Turkeys def: "An acute, highly contagious virus disease of turkeys characterized by chilling, anorexia, decreased water intake, diarrhea, dehydration and weight loss. The infectious agent is a CORONAVIRUS." [MESH:D004753] synonym: "Bluecomb of Turkeys" EXACT [] xref: MESH:D004753 is_a: DOID:0080599 ! Coronavirus infectious disease is_a: DOID:9004902 ! Poultry Diseases [Term] id: DOID:9001986 name: Familial Dysalbuminemic Hyperthyroxinemia alt_id: MESH:C566305 alt_id: MIM:615999 def: "An inherited autosomal dominant trait characterized by abnormally elevated levels of total serum THYROXINE; (T4) in euthyroid patients with abnormal SERUM ALBUMIN that binds T4 with enhanced affinity. The serum levels of free T4, free T3, and TSH are normal. It is one of several T4 abnormalities produced by non-thyroid disorder. This condition is due to mutations of the ALB gene on CHROMOSOME 4." [MESH:D050010] synonym: "dysalbuminemic hyperthyroxinemia" EXACT [] synonym: "dysalbuminemic hypertriiodothyroninemia" NARROW [] synonym: "euthyroid hyperthyroxinemia 1" EXACT [] synonym: "familial dysalbuminemic hypertriiodothyroninemia" NARROW [] synonym: "FDAH" EXACT [] synonym: "FDH" EXACT [] xref: MESH:D050010 is_a: DOID:2855 ! hyperthyroxinemia is_a: DOID:630 ! genetic disease [Term] id: DOID:9001987 name: Trichostasis Spinulosa xref: MESH:C536558 is_a: DOID:161 ! keratosis is_a: DOID:421 ! hair disease is_a: DOID:9006202 ! Pruritus [Term] id: DOID:9001989 name: Folate-Sensitive Neural Tube Defects alt_id: MIM:601634 synonym: "folate-sensitive neural tube defect" EXACT [] synonym: "MTHFD1-RELATED CONDITION" BROAD [] synonym: "Neural tube defects, folate-sensitive, susceptibility to" RELATED [] synonym: "NTD, FOLATE-SENSITIVE SPINA BIFIDA, FOLATE-SENSITIVE" NARROW [] synonym: "NTDFS" EXACT [] synonym: "SPINA BIFIDA, FOLATE-SENSITIVE, SUSCEPTIBILITY TO" RELATED [] xref: MESH:C536409 is_a: DOID:0060668 ! anencephaly is_a: DOID:0080074 ! neural tube defect [Term] id: DOID:9001990 name: Meckel Syndrome 14 def: "A lethal disorder characterized by occipital encephalocele, postaxial polydactyly of the hands and feet, and polycystic kidneys. Caused by homozygous or compound heterozygous mutation in the TXNDC15 gene on chromosome 5q31." [MIM:619879] synonym: "MKS14" EXACT [] xref: MIM:619879 is_a: DOID:0050778 ! Meckel syndrome created_by: mtutaj creation_date: 2022-05-13T13:56:42Z [Term] id: DOID:9001991 name: Renal-Hepatic-Pancreatic Dysplasia 1 synonym: "RHPD1" EXACT [] xref: MIM:208540 is_a: DOID:0060259 ! renal-hepatic-pancreatic dysplasia is_a: DOID:2785 ! Dandy-Walker syndrome [Term] id: DOID:9001992 name: Chromosome 3, Monosomy 3q21 23 synonym: "Deletion 3q21 23" EXACT [] synonym: "Monosomy 3q21 23" EXACT [] xref: MESH:C536809 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9001993 name: Retinitis Pigmentosa 76 synonym: "RP76" EXACT [] xref: MIM:617123 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9001994 name: Synpolydactyly 2 alt_id: MIM:608180 synonym: "SPD2" EXACT [] synonym: "SYNPOLYDACTYLY, 3/3-PRIME/4, ASSOCIATED WITH METACARPAL AND METATARSAL SYNOSTOSES" EXACT [] xref: MESH:C564278 is_a: DOID:0060242 ! synpolydactyly is_a: DOID:1148 ! polydactyly is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9001995 name: Actinic Cheilitis synonym: "Actinic cheilosis" EXACT [] xref: MESH:C535669 is_a: DOID:1762 ! cheilitis [Term] id: DOID:9001996 name: Sensorineural Deafness with Mild Renal Dysfunction xref: MESH:C567544 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:445 ! Bartter disease [Term] id: DOID:9001997 name: Pdgfra-Associated Chronic Eosinophilic Leukemia alt_id: RDO:0015915 synonym: "Pdgfra-associated myeloproliferative neoplasm" EXACT [] xref: MESH:C580364 is_a: DOID:0080367 ! chronic eosinophilic leukemia is_a: DOID:999 ! hypereosinophilic syndrome [Term] id: DOID:9001998 name: Absence or Hypoplasia of Tibia with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies alt_id: MIM:601027 xref: MESH:C563403 is_a: DOID:1148 ! polydactyly is_a: DOID:9007612 ! Arachnoid Cysts is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9001999 name: Agenesis of Corpus Callosum alt_id: MIM:217990 def: "Birth defect that results in a partial or complete absence of the CORPUS CALLOSUM. It may be isolated or a part of a syndrome (e.g., AICARDI'S SYNDROME; ACROCALLOSAL SYNDROME; ANDERMANN SYNDROME; and HOLOPROSENCEPHALY). Clinical manifestations include neuromotor skill impairment and INTELLECTUAL DISABILITY of variable severity." [MESH:D061085] synonym: "Absence of Corpus Callosum" EXACT [] synonym: "Corpus Callosum Absence" EXACT [] synonym: "Corpus Callosum Ageneses" EXACT [] synonym: "Corpus Callosum Agenesis" EXACT [] synonym: "Corpus Callosum Dysgenesis" EXACT [] synonym: "Corpus Callosum Hypogenesis" EXACT [] synonym: "Corpus Callosum Malformation" EXACT [] xref: MESH:D061085 is_a: DOID:9005214 ! Anatomical Pathological Conditions is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:9002000 name: Steinfeld Syndrome alt_id: MIM:184705 xref: MESH:C566655 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9002001 name: Congenital Central Hypoventilation Syndrome 3 def: "An autosomal recessive disorder characterized by slow and shallow breathing due to a deficiency in autonomic control of respiration. Caused by homozygous mutation in the LBX1 gene on chromosome 10q24. (OMIM)" [] synonym: "CCHS3" EXACT [] xref: MIM:619483 is_a: DOID:0060731 ! congenital central hypoventilation syndrome created_by: mtutaj creation_date: 2021-10-01T12:35:12Z [Term] id: DOID:9002002 name: Opportunistic Infections def: "An infection caused by an organism which becomes pathogenic under certain conditions, e.g., during immunosuppression." [MESH:D009894] synonym: "Opportunistic Infection" EXACT [] xref: MESH:D009894 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9002003 name: Three M Syndrome 3 synonym: "3M3" EXACT [] synonym: "3M Syndrome 3" EXACT [] xref: MIM:614205 is_a: DOID:0060241 ! 3-M syndrome [Term] id: DOID:9002004 name: Caudal Duplication Anomaly alt_id: MIM:607864 xref: MESH:C564315 xref: RDO:0013323 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9002005 name: Deficiency of Plasma Clot Retraction Factor alt_id: MIM:262800 xref: MESH:C564885 is_a: DOID:1247 ! blood coagulation disease is_a: DOID:620 ! blood protein disease [Term] id: DOID:9002006 name: Typical Teratoid Rhabdoid Tumor alt_id: RDO:0016033 synonym: "Teratoid Rhabdoid Tumor" EXACT [] synonym: "Teratoma Rhabdoid Tumor" EXACT [] synonym: "Typical Teratoma Rhabdoid Tumor" EXACT [] xref: MESH:C000597569 is_a: DOID:3307 ! teratoma is_a: DOID:3672 ! rhabdoid cancer [Term] id: DOID:9002007 name: Hersh Podruch Weisskopf Syndrome synonym: "Toluene embryopathy" EXACT [] xref: MESH:C538114 xref: PMID:4039753 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002008 name: BROWN SYNDROME def: "This disease is characterized by the inability to elevate the adducted eye actively or passively. There is less elevation deficit with the eye in midposition, and minimal or no deficit in abduction. Brown syndrome accounts for approximately 2% of strabismus cases. Ten percent of cases are bilateral, and left- and right-sided unilateral cases are equal in frequency." [MIM:616407] synonym: "BRWNS" EXACT [] xref: MIM:616407 is_a: DOID:540 ! strabismus created_by: slaulederkind creation_date: 2024-05-10T12:37:28Z [Term] id: DOID:9002010 name: Primary Bile Acid Malabsorption 2 def: "An autosomal recessive disorder characterized by chronic diarrhea, severe fat-soluble vitamin deficiency, and features of cholestatic liver disease. Caused by homozygous mutation in the SLC51B gene on chromosome 15q22. (OMIM)" [] synonym: "PBAM2" EXACT [] xref: MIM:619481 is_a: DOID:9003880 ! Primary Bile Acid Malabsorption created_by: mtutaj creation_date: 2021-08-25T10:32:12Z [Term] id: DOID:9002011 name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 9 def: "An autosomal recessive disorder characterized by episodic acute neurodegeneration and developmental regression associated with infections and febrile illness." [MIM:618426] synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 9" RELATED [] synonym: "IIAE9" RELATED [] xref: MIM:618426 is_a: DOID:936 ! brain disease created_by: slaulede creation_date: 2019-08-05T13:27:13Z [Term] id: DOID:9002012 name: Senior-Loken Syndrome 3 alt_id: MIM:606995 synonym: "SLSN3" EXACT [] xref: MESH:C564637 is_a: DOID:0050576 ! Senior-Loken syndrome [Term] id: DOID:9002014 name: Post-Traumatic Headache def: "Secondary headache attributed to TRAUMA of the HEAD and/or the NECK." [MESH:D051298] synonym: "Cervicogenic Headache" EXACT [] synonym: "Cervicogenic Headaches" EXACT [] synonym: "Post-Traumatic Headaches" EXACT [] xref: MESH:D051298 xref: RDO:0007578 is_a: DOID:9005633 ! Headache Disorders, Secondary [Term] id: DOID:9002015 name: Prostate Cancer, Hereditary, 13 alt_id: MIM:611928 synonym: "HPC13" EXACT [] xref: MESH:C567456 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9002016 name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, DI ROCCO TYPE def: "A disease characterized by short stature, joint pain, and genu varum, as well as SEMD involving primarily the hips but also affecting the wrists, hands, knees, and ankles." [MIM:617974] synonym: "SEMDDR" EXACT [] synonym: "spondyloepimetaphyseal dysplasia of the Di Rocco type" EXACT [] xref: MIM:617974 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia created_by: slaulede creation_date: 2019-07-18T13:36:47Z [Term] id: DOID:9002017 name: Folate-Responsive Megaloblastic Anemia synonym: "folate level in erythrocytes" EXACT [] synonym: "MEGAF" EXACT [] xref: MIM:601775 is_a: DOID:13382 ! megaloblastic anemia created_by: mtutaj creation_date: 2021-04-13T13:18:45Z [Term] id: DOID:9002018 name: Pneumocephalus def: "Presence of air or gas within the intracranial cavity (e.g., epidural space, subdural space, intracerebral, etc.) which may result from traumatic injuries, fistulous tract formation, erosions of the skull from NEOPLASMS or infection, NEUROSURGICAL PROCEDURES, and other conditions." [MESH:D011007] synonym: "Cranial Airocele" EXACT [] synonym: "Cranial Airoceles" EXACT [] synonym: "Cranial Pneumocyst" EXACT [] synonym: "Cranial Pneumocysts" EXACT [] synonym: "Epidural Pneumocephalus" EXACT [] synonym: "Intracranial Gas" EXACT [] synonym: "Pressure Pneumocephalus" EXACT [] synonym: "Tension Pneumocephalus" EXACT [] synonym: "Traumatic Pneumocephalus" EXACT [] xref: EFO:1001398 xref: MESH:D011007 xref: RDO:0006366 is_a: DOID:331 ! central nervous system disease is_a: DOID:9000998 ! Brain Injuries [Term] id: DOID:9002019 name: Granuloma def: "A relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents." [MESH:D006099] synonym: "Granulomas" EXACT [] xref: EFO:0009462 xref: MESH:D006099 xref: NCI:C3064 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9002020 name: Mental Health Wellness 1 synonym: "MHW1" EXACT [] xref: MIM:603663 xref: RDO:0008896 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:9002021 name: Charcot-Marie-Tooth Peroneal Muscular Atrophy and Friedreich Ataxia, Combined alt_id: MIM:302900 synonym: "CHARCOT-MARIE-TOOTH-LIKE DISEASE" EXACT [] xref: MESH:C564446 is_a: DOID:10595 ! Charcot-Marie-Tooth disease is_a: DOID:12705 ! Friedreich ataxia [Term] id: DOID:9002022 name: Benign Smooth Muscle Neoplasm def: "This is a benign mesenchymal neoplasm arising from smooth muscle tissue." [NCI:C6510] synonym: "Benign Smooth Muscle Tumor" EXACT [] xref: EFO:1000121 is_a: DOID:4310 ! smooth muscle tumor created_by: slaulede creation_date: 2022-12-12T15:28:17Z [Term] id: DOID:9002023 name: Leukotriene C4 Synthase Deficiency alt_id: MIM:614037 synonym: "LTC4 Synthase Deficiency" EXACT [] xref: MESH:C565439 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9002024 name: Hydrocephalus, Skeletal Anomalies, and Mental Disturbance xref: MESH:C563413 is_a: DOID:10908 ! hydrocephalus is_a: DOID:150 ! disease of mental health is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9002025 name: Familial Visceral Myopathy xref: MESH:C562574 is_a: DOID:0080072 ! intestinal pseudo-obstruction [Term] id: DOID:9002026 name: Eagle Syndrome synonym: "Eagle's syndrome" EXACT [] synonym: "Elongated styloid process syndrome" EXACT [] synonym: "Styloid-stylohoid syndrome" EXACT [] xref: MESH:C538010 is_a: DOID:225 ! syndrome is_a: DOID:9003295 ! Heterotopic Ossification [Term] id: DOID:9002027 name: HYDROPS, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA synonym: "HLASA" EXACT [] xref: MIM:617021 is_a: DOID:8955 ! sideroblastic anemia is_a: DOID:9004872 ! Congenital Infantile Lactic Acidosis is_a: DOID:9008386 ! Hydrops Fetalis [Term] id: DOID:9002028 name: Tuberculosis, Male Genital def: "MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE)." [MESH:D014389] synonym: "Male Genital Tuberculoses" EXACT [] xref: EFO:1001030 xref: MESH:D014389 xref: RDO:0006768 is_a: DOID:2149 ! urogenital tuberculosis is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:9002029 name: Indolylacroyl Glycinuria with Mental Retardation alt_id: MIM:243050 xref: MESH:C565466 is_a: DOID:1059 ! intellectual disability is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9002030 name: CIMDAG SYNDROME def: "This disease is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination." [MIM:619273] synonym: "CEREBELLAR HYPOPLASIA, CATARACTS, IMPAIRED INTELLECTUAL DEVELOPMENT, CONGENITAL MICROCEPHALY, DYSTONIA, DYSERYTHROPOIETIC ANEMIA, AND GROWTH RETARDATION" EXACT [] synonym: "CIMDAG" EXACT [] xref: MIM:619273 is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2021-05-13T11:23:28Z [Term] id: DOID:9002031 name: Frontotemporal Lobar Degeneration def: "Heterogeneous group of neurodegenerative disorders characterized by frontal and temporal lobe atrophy associated with neuronal loss, gliosis, and dementia. Patients exhibit progressive changes in social, behavioral, and/or language function. Multiple subtypes or forms are recognized based on presence or absence of TAU PROTEIN inclusions. FTLD includes three clinical syndromes: FRONTOTEMPORAL DEMENTIA, semantic dementia, and PRIMARY PROGRESSIVE NONFLUENT APHASIA." [MESH:D057174] synonym: "Frontotemporal Lobar Degenerations" EXACT [] synonym: "FTLD" EXACT [] synonym: "FTLDs" EXACT [] xref: MESH:D057174 is_a: DOID:1307 ! dementia is_a: DOID:9004479 ! TDP-43 Proteinopathies [Term] id: DOID:9002032 name: Prodromal Symptoms def: "Clinical or physiological indicators that precede the onset of disease." [MESH:D062706] synonym: "Prodromal Characteristic" EXACT [] synonym: "prodromal characteristics" EXACT [] synonym: "Prodromal Period" EXACT [] synonym: "Prodromal Periods" EXACT [] synonym: "Prodromal Sign" EXACT [] synonym: "Prodromal Signs" EXACT [] synonym: "Prodromal Stage" EXACT [] synonym: "Prodromal Stages" EXACT [] synonym: "Prodromal State" EXACT [] synonym: "Prodromal States" EXACT [] synonym: "Prodromal Symptom" EXACT [] synonym: "Prodromal Syndrome" EXACT [] synonym: "prodromal syndromes" EXACT [] xref: MESH:D062706 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9002033 name: Knobloch Syndrome synonym: "KNO" EXACT [] synonym: "Passos-Bueno syndrome" EXACT [] synonym: "Retinal Detachment and Occipital Encephalocele" EXACT [] synonym: "retinal detachment, occipital encephalocele" EXACT [] xref: GARD:380 xref: MESH:C537209 xref: MIM:PS267750 is_a: DOID:225 ! syndrome is_a: DOID:5327 ! retinal detachment is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:9002034 name: Autosomal Recessive Cutis Laxa synonym: "recessive cutis laxa" EXACT [] xref: MESH:C536225 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:3144 ! cutis laxa [Term] id: DOID:9002035 name: Stomatin-Deficient Cryohydrocytosis with Mental Retardation, Seizures, Cataracts, and Massive Hepatosplenomegaly synonym: "GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS" EXACT [] synonym: "SDCHCN" EXACT [] synonym: "Stomatin-Deficient Cryohydrocytosis with Neurologic Defects" EXACT [] xref: MESH:C563840 xref: MIM:608885 xref: MONDO:0012143 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:83 ! cataract is_a: DOID:9002720 ! Splenomegaly is_a: DOID:9005369 ! Hepatomegaly [Term] id: DOID:9002036 name: Chondrocalcinosis 1 alt_id: MIM:600668 synonym: "calcium pyrophosphate dihydrate deposition disease 1" EXACT [] synonym: "CCAL1" EXACT [] synonym: "Chondrocalcinosis with early-onset osteoarthritis" EXACT [] synonym: "CPPDD1" EXACT [] xref: MESH:C535938 is_a: DOID:1156 ! chondrocalcinosis is_a: DOID:8398 ! osteoarthritis [Term] id: DOID:9002037 name: Epidermodysplasia Verruciformis, X-Linked alt_id: MIM:305350 synonym: "EDV2" EXACT [] synonym: "EDVX" EXACT [] xref: MESH:C564430 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:13777 ! epidermodysplasia verruciformis [Term] id: DOID:9002039 name: Oocyte/Zygote/Embryo Maturation Arrest 10 synonym: "Oocyte Maturation Defect 10" EXACT [] synonym: "OOMD10" EXACT [] synonym: "OZEMA10" EXACT [] xref: MIM:619176 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2021-02-08T11:11:49Z [Term] id: DOID:9002040 name: RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS synonym: "RPEM" EXACT [] xref: MIM:616959 xref: RDO:9001201 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9002043 name: Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline def: "An autosomal recessive progressive disorder with onset of symptoms in the first decade." [MIM:618868] synonym: "CONATOC" EXACT [] xref: MIM:618868 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:5723 ! optic atrophy is_a: DOID:9000495 ! Tremor is_a: DOID:9004866 ! Ataxia created_by: slaulede creation_date: 2020-08-04T13:05:22Z [Term] id: DOID:9002044 name: Ansell Bywaters Elderking Syndrome xref: MESH:C537773 is_a: DOID:1059 ! intellectual disability is_a: DOID:13141 ! uveitis is_a: DOID:14286 ! neurogenic arthropathy is_a: DOID:225 ! syndrome [Term] id: DOID:9002045 name: Respiratory Aspiration of Gastric Contents def: "Inhaling refluxed gastric or duodenal contents." [MESH:D063466] xref: MESH:D063466 xref: RDO:0012118 is_a: DOID:9001264 ! Respiratory Aspiration is_a: DOID:9003366 ! Laryngopharyngeal Reflux [Term] id: DOID:9002046 name: Muscular Dystrophy, Pseudohypertrophic, with Internalized Capillaries alt_id: MIM:159050 alt_id: RDO:0012781 xref: MESH:C563554 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9002047 name: Postaxial Polydactyly, Type A5 synonym: "PAPA5" EXACT [] xref: MIM:263450 is_a: DOID:9003071 ! Postaxial Polydactyly created_by: mtutaj creation_date: 2019-10-07T10:01:25Z [Term] id: DOID:9002048 name: Dentofacial Deformities def: "An abnormality of the jaws or teeth affecting the contour of the face. Such abnormality could be acquired or congenital." [MESH:D063169] synonym: "Dentofacial Abnormalities" EXACT [] synonym: "Dentofacial Abnormality" EXACT [] synonym: "Dentofacial Deformity" EXACT [] synonym: "Dentofacial Dyplasia" EXACT [] synonym: "Dentofacial Dyplasias" EXACT [] xref: MESH:D063169 is_a: DOID:9004563 ! Maxillofacial Abnormalities [Term] id: DOID:9002049 name: Anophthalmia def: "Congenital absence of the eye or eyes." [MESH:D000853] synonym: "anophthalmias" EXACT [] synonym: "anophthalmos" EXACT [] xref: MESH:D000853 is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9002050 name: Flavobacteriaceae Infections def: "Infections with bacteria of the family FLAVOBACTERIACEAE." [MESH:D045826] synonym: "Flavobacteriaceae Infection" EXACT [] synonym: "Flavobacteriaceae infectious disease" EXACT [] xref: EFO:1001327 xref: MESH:D045826 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9002051 name: Sandhoff Disease, Juvenile Type is_a: DOID:3323 ! Sandhoff disease [Term] id: DOID:9002052 name: Neoplasms by Histologic Type def: "A collective term for the various histological types of NEOPLASMS. It is more likely to be used by searchers than by indexers and catalogers." [MESH:D009370] synonym: "Histological Type of Neoplasm" EXACT [] synonym: "Histological Types of Neoplasms" EXACT [] synonym: "Neoplasm Histological Type" EXACT [] synonym: "Neoplasm Histological Types" EXACT [] synonym: "Neoplasms by Histological Type" EXACT [] synonym: "Neoplasms Histological Type" EXACT [] synonym: "Neoplasms Histological Types" EXACT [] xref: MESH:D009370 xref: RDO:0005983 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:9002053 name: Furunculosis def: "A persistent skin infection marked by the presence of furuncles, often chronic and recurrent. In humans, the causative agent is various species of STAPHYLOCOCCUS. In salmonid fish (SALMONIDS), the pathogen is AEROMONAS SALMONICIDA." [MESH:D005667] synonym: "Boils" EXACT [] synonym: "Furuncle" EXACT [] synonym: "Furuncles" EXACT [] synonym: "Furunculoses" EXACT [] xref: MESH:D005667 is_a: DOID:9000354 ! Fish Diseases is_a: DOID:9005966 ! Staphylococcal Skin Infections [Term] id: DOID:9002054 name: Bilateral Temporal Lobe Disorder synonym: "Memory loss, extreme sexual behavior, placidity, and visual distractibility" EXACT [] synonym: "Post-encephalitic Kluver Bucy syndrome" EXACT [] synonym: "Post-traumatic Kluver Bucy syndrome" EXACT [] xref: MESH:C538521 is_a: DOID:2510 ! Kluver-Bucy syndrome [Term] id: DOID:9002055 name: Chronic Allograft Nephropathy def: "Chronic, progressive, and irreversible loss of function in a transplanted kidney. It is a multifactorial process associated with progressive interstitial fibrosis and tubular atrophy." [] is_a: DOID:9002153 ! Chronic Allograft Dysfunction is_a: DOID:9006223 ! Kidney Reperfusion Injury [Term] id: DOID:9002056 name: Arterial Injury def: "Damage to an artery caused by blunt force, penetrating trauma, or iatrogenic manipulation." [] synonym: "arterial injuries" EXACT [] synonym: "artery injuries" EXACT [] synonym: "artery injury" EXACT [] xref: RDO:9000059 is_a: DOID:178 ! vascular disease [Term] id: DOID:9002057 name: Arthrogryposis Multiplex Congenita Whistling Face alt_id: MIM:208155 synonym: "Arthrogryposis Multiplex Congenita With Whistling Face" EXACT [] synonym: "ARTHROGRYPOSIS, WHISTLING FACE, AND DEVELOPMENTAL RETARDATION" EXACT [] synonym: "Illium syndrome" EXACT [] synonym: "Illum Syndrome" EXACT [] synonym: "Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system" EXACT [] xref: MESH:C538401 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9002058 name: Chromosome Fragility def: "Susceptibility of chromosomes to breakage leading to translocation; CHROMOSOME INVERSION; SEQUENCE DELETION; or other CHROMOSOME BREAKAGE related aberrations." [MESH:D002873] synonym: "Chromosomal Fragility" EXACT [] xref: MESH:D002873 xref: RDO:0005216 is_a: DOID:9003882 ! Chromosomal Instability [Term] id: DOID:9002059 name: Developmental and Epileptic Encephalopathy 112 def: "An autosomal dominant disorder characterized by a wide range of seizure types, including focal and generalized seizures. Caused by heterozygous mutation in the KCNH5 gene on chromosome 14q23." [MIM:620537] synonym: "DEE112" EXACT [] xref: MIM:620537 is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-10-17T09:17:32Z [Term] id: DOID:9002060 name: BOUDIN-MORTIER SYNDROME def: "This is a disease characterized by tall stature, arachnodactyly, disproportionately elongated great toes, and multiple extra epiphyses." [MIM:619543] synonym: "BOMOS" EXACT [] synonym: "TALL STATURE AND LONG DIGITS WITH EXTRA EPIPHYSES" EXACT [] xref: MIM:619543 is_a: DOID:0080006 ! bone development disease is_a: DOID:9005367 ! Arachnodactyly created_by: slaulede creation_date: 2021-10-14T15:58:32Z [Term] id: DOID:9002061 name: Pseudo-TORCH Syndrome xref: MIM:PS251290 is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:936 ! brain disease created_by: mtutaj creation_date: 2019-04-29T15:18:57Z [Term] id: DOID:9002062 name: Erythrokeratodermia Variabilis, Autosomal Recessive xref: MESH:C566391 xref: RDO:0014758 is_a: DOID:0050467 ! erythrokeratodermia variabilis [Term] id: DOID:9002063 name: Familial Autoinflammatory Syndrome, with or without Immunodeficiency def: "Characterized by onset of various autoimmune features usually in the first decades of life, although later onset has been reported. Caused by heterozygous mutation in the SOCS1 gene on chromosome 16p13. (OMIM)" [] synonym: "AISIMD" EXACT [] xref: MIM:619375 is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2021-06-23T11:15:10Z [Term] id: DOID:9002064 name: Parkinson's Disease 12 alt_id: MIM:300557 synonym: "PARK12" EXACT [] synonym: "Parkinson's Disease, X-Linked" EXACT [] synonym: "Parkinson Disease 12" EXACT [] synonym: "Parkinson Disease, X-Linked" EXACT [] xref: MESH:C564486 xref: RDO:0013432 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:9002065 name: Familial Atrial Fibrillation 12 synonym: "ATFB12" EXACT [] xref: MIM:614050 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9002066 name: Developmental Delay with Hypotonia, Myopathy, and Brain Abnormalities def: "An autosomal recessive disorder characterized by global developmental delay and muscle weakness apparent in infancy. Caused by homozygous mutation in the GOLGA2 gene on chromosome 9q34." [MIM:620240] synonym: "DEDHMB" EXACT [] xref: MIM:620240 is_a: DOID:423 ! myopathy is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-02-10T09:16:53Z [Term] id: DOID:9002067 name: Cyclic Vomiting Syndrome with Neuromuscular Disease xref: MESH:C564022 is_a: DOID:440 ! neuromuscular disease is_a: DOID:9001580 ! Cyclic Vomiting Syndrome [Term] id: DOID:9002068 name: Abnormal Thyroid Hormone Metabolism 1 alt_id: MIM:609698 synonym: "Abnormal Thyroid Hormone Metabolism" EXACT [] synonym: "THMA" EXACT [] synonym: "THMA1" EXACT [] xref: MESH:C566454 is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:9002070 name: Sick Sinus Syndrome 4 def: "Characterized by early and progressive sinus node and atrioventricular conduction dysfunction. Caused by heterozygous mutation in the GNB2 gene on chromosome 7q22. (OMIM)" [] synonym: "GNB2-RELATED CONDITION" BROAD [] synonym: "SSS4" EXACT [] xref: MIM:619464 is_a: DOID:13884 ! sick sinus syndrome created_by: mtutaj creation_date: 2021-08-06T15:50:16Z [Term] id: DOID:9002071 name: Specific Language Impairment 1 synonym: "SLI1" EXACT [] xref: MIM:606711 is_a: DOID:0060244 ! specific language impairment [Term] id: DOID:9002072 name: Winship Viljoen Leary Syndrome alt_id: MIM:251220 synonym: "Microcephaly cardiomyopathy" EXACT [] synonym: "Microcephaly-cardiomyopathy syndrome" EXACT [] synonym: "Microcephaly with cardiomyopathy" EXACT [] synonym: "Microcephaly with mental retardation and dilated cardiomyopathy" EXACT [] synonym: "Severe microcephaly and self-limiting dilated cardiomyopathy" EXACT [] synonym: "Severe microcephaly with mental retardation and dilated cardiomyopathy" EXACT [] xref: MESH:C536711 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:225 ! syndrome [Term] id: DOID:9002073 name: Pelizaeus-Merzbacher like Brain Sclerosis alt_id: MIM:213900 synonym: "Cerebral sclerosis similar to Pelizaeus-Merzbacher disease" EXACT [] xref: MESH:C536318 is_a: DOID:0080122 ! Alpers-Huttenlocher syndrome is_a: DOID:3210 ! Pelizaeus-Merzbacher disease [Term] id: DOID:9002074 name: 3-Hydroxyisobutyric Aciduria alt_id: MIM:236795 xref: MESH:C535312 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9002075 name: Saccharopinuria alt_id: MIM:268700 synonym: "alpha aminoadipic semialdehyde deficiency disease" EXACT [] synonym: "alpha-aminoadipic semialdehyde synthase deficiency" EXACT [] synonym: "HYPERLYSINEMIA, TYPE II" EXACT [] synonym: "saccharopine dehydrogenase deficiency" EXACT [] synonym: "saccharopine dehydrogenase deficiency disease" EXACT [] synonym: "saccharopinemia" EXACT [] xref: MESH:C537218 is_a: DOID:9274 ! hyperlysinemia [Term] id: DOID:9002076 name: USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE alt_id: DOID:9006164 def: "This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development and speech delay, spasticity, and behavioral abnormalities, most commonly aggressive behavior." [MIM:619548] synonym: "autosomal recessive Usmani-Riazzudin syndrome" EXACT [] synonym: "USMANI-RIAZUDDIN SYNDROME, AUTOSOMAL RECESSIVE" EXACT [] synonym: "USRISR" EXACT [] xref: MIM:619548 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2021-12-14T15:23:30Z [Term] id: DOID:9002078 name: Periventricular Nodular Heterotopia 8 def: "A neurologic disorder characterized by abnormal neuronal migration during brain development, resulting in delayed psychomotor development. (OMIM)" [] synonym: "PVNH8" EXACT [] xref: MIM:618185 is_a: DOID:0050454 ! periventricular nodular heterotopia created_by: slaulede creation_date: 2019-01-16T17:03:00Z [Term] id: DOID:9002079 name: Paresis def: "A general term referring to a mild to moderate degree of muscular weakness, occasionally used as a synonym for PARALYSIS (severe or complete loss of motor function). In the older literature, paresis often referred specifically to paretic neurosyphilis (see NEUROSYPHILIS). 'General paresis' and 'general paralysis' may still carry that connotation. Bilateral lower extremity paresis is referred to as PARAPARESIS." [MESH:D010291] synonym: "Brachial Pareses" EXACT [] synonym: "Brachial Paresis" EXACT [] synonym: "Crural Pareses" EXACT [] synonym: "Crural Paresis" EXACT [] synonym: "Hemipareses" EXACT [] synonym: "Hemiparesis" EXACT [] synonym: "Lower Extremity Pareses" EXACT [] synonym: "Lower Extremity Paresis" EXACT [] synonym: "Monopareses" EXACT [] synonym: "Monoparesis" EXACT [] synonym: "Muscle Pareses" EXACT [] synonym: "Muscle Paresis" EXACT [] synonym: "Muscular Pareses" EXACT [] synonym: "Muscular Paresis" EXACT [] synonym: "Pareses" EXACT [] synonym: "Upper Extremity Pareses" EXACT [] synonym: "Upper Extremity Paresis" EXACT [] xref: MESH:D010291 is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9002080 name: Anterior Cervical Hypertrichosis alt_id: MIM:600457 synonym: "Hairy throat" EXACT [] synonym: "Hairy throat syndrome" EXACT [] xref: MESH:C538390 is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9002081 name: Long QT Syndrome 2/3 alt_id: RDO:0014376 synonym: "LONG QT SYNDROME 2/3, DIGENIC" EXACT [] synonym: "LQT2/3, DIGENIC" EXACT [] xref: MESH:C565841 is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:9002082 name: Prolonged Pregnancy def: "A term used to describe pregnancies that exceed the upper limit of a normal gestational period. In humans, a prolonged pregnancy is defined as one that extends beyond 42 weeks (294 days) after the first day of the last menstrual period (MENSTRUATION), or birth with gestational age of 41 weeks or more." [MESH:D011273] synonym: "post term pregnancy" EXACT [] synonym: "post-term pregnancy" EXACT [] synonym: "postterm pregnancy" EXACT [] synonym: "Prolonged Pregnancies" EXACT [] xref: EFO:0009681 xref: MESH:D011273 is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9002083 name: Branchiootic Syndrome 1 synonym: "anterior segment anomalies with or without cataract" NARROW [] synonym: "BOS1" EXACT [] synonym: "BO syndrome 1" EXACT [] xref: MIM:602588 is_a: DOID:0060232 ! branchiootic syndrome created_by: mtutaj creation_date: 2020-09-24T14:10:59Z [Term] id: DOID:9002084 name: Chromosome 5, Trisomy 5p synonym: "Chromosome 5p syndrome" EXACT [] synonym: "Chromosome 5, Trisomy 5p, Complete (5p11-pter)" EXACT [] synonym: "Chromosome 5, Trisomy 5p, Partial (5p13 or 14-pter)" EXACT [] xref: MESH:C537648 xref: RDO:0003525 is_a: DOID:12580 ! Cri-du-Chat syndrome [Term] id: DOID:9002085 name: Congenital Cholesteatoma alt_id: MIM:604183 xref: MESH:C562858 is_a: DOID:869 ! cholesteatoma [Term] id: DOID:9002086 name: Split-Hand-Foot Malformation with Long Bone Deficiency 1 alt_id: MIM:119100 alt_id: RDO:0002020 synonym: "aplasia of tibia with ectrodactyly" EXACT [] synonym: "Cleft hand absent tibia" EXACT [] synonym: "Cleft Hand And Absent Tibia" EXACT [] synonym: "Ectrodactyly with aplasia of long bones" EXACT [] synonym: "SHFLD" EXACT [] synonym: "SHFLD1" EXACT [] synonym: "Split-hand-foot malformation with long bone deficiency" EXACT [] synonym: "tibial aplasia with split-hand-split-foot deformity" EXACT [] xref: MESH:C536425 is_a: DOID:0090020 ! split hand-foot malformation is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9002087 name: Silicotuberculosis def: "Pulmonary or extrapulmonary infection caused by MYCOBACTERIUM TUBERCULOSIS or nontuberculous mycobacteria in a patient with silicosis." [MESH:D012830] synonym: "silicotuberculoses" EXACT [] xref: MESH:D012830 is_a: DOID:10325 ! silicosis is_a: DOID:2957 ! pulmonary tuberculosis [Term] id: DOID:9002089 name: Tumor Predisposition Syndrome 1 def: "This is a condition in which individuals carrying heterozygous BAP1 mutations are at high-risk for the development of a variety of tumors." [] synonym: "BAP1 Cancer Syndrome" EXACT [] synonym: "BAP1 TUMOR PREDISPOSITION SYNDROME" EXACT [] synonym: "TUMOR SUSCEPTIBILITY LINKED TO GERMLINE BAP1 MUTATIONS" RELATED [] xref: MIM:614327 is_a: DOID:9001329 ! Tumor Predisposition Syndrome [Term] id: DOID:9002090 name: Galactorrhea alt_id: MIM:230300 def: "Excessive or inappropriate LACTATION in females or males, and not necessarily related to PREGNANCY. Galactorrhea can occur either unilaterally or bilaterally, and be profuse or sparse. Its most common cause is HYPERPROLACTINEMIA." [MESH:D005687] synonym: "Galactorrheas" EXACT [] xref: MESH:D005687 is_a: DOID:9008748 ! Lactation Disorders [Term] id: DOID:9002091 name: Paragangliomas 5 synonym: "PGL5" EXACT [] synonym: "pheochromocytoma/paraganglioma syndrome 5" EXACT [] synonym: "PPGL5" EXACT [] xref: MIM:614165 is_a: DOID:0050773 ! paraganglioma [Term] id: DOID:9002092 name: Tubular Aggregate Myopathies synonym: "myopathy with tubular aggregates" EXACT [] synonym: "TAM" EXACT [] synonym: "tubular aggregate myopathy" EXACT [] xref: GARD:3884 xref: ORDO:2593 is_a: DOID:423 ! myopathy created_by: mtutaj creation_date: 2020-06-18T19:20:14Z [Term] id: DOID:9002093 name: Lysine Intolerance xref: MESH:C563201 is_a: DOID:9274 ! hyperlysinemia [Term] id: DOID:9002094 name: HIV Enteropathy def: "A syndrome characterized by chronic, well-established DIARRHEA (greater than one month in duration) without an identified infectious cause after thorough evaluation, in an HIV-positive individual. It is thought to be due to direct or indirect effects of HIV on the enteric mucosa. HIV enteropathy is a diagnosis of exclusion and can be made only after other forms of diarrheal illness have been ruled out. (Harrison's Principles of Internal Medicine, 13th ed, pp1607-8; Haubrich et al., Bockus Gastroenterology, 5th ed, p1155)" [MESH:D019053] synonym: "AIDS-Associated Enteropathies" EXACT [] synonym: "AIDS Associated Enteropathy" EXACT [] synonym: "AIDS Enteropathies" EXACT [] synonym: "AIDS Enteropathy" EXACT [] synonym: "HIV-Associated Enteropathies" EXACT [] synonym: "HIV Associated Enteropathy" EXACT [] synonym: "HIV Enteropathies" EXACT [] synonym: "Idiopathic AIDS Enteropathies" EXACT [] synonym: "Idiopathic AIDS Enteropathy" EXACT [] xref: EFO:0007311 xref: MESH:D019053 is_a: DOID:225 ! syndrome is_a: DOID:526 ! human immunodeficiency virus infectious disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9002095 name: NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent from early childhood." [MIM:619470] synonym: "NEDMOSBA" EXACT [] xref: MIM:619470 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2021-10-21T15:15:55Z [Term] id: DOID:9002096 name: Foot Injuries def: "General or unspecified injuries involving the foot." [MESH:D018409] synonym: "Foot Injury" EXACT [] synonym: "Turf Toe" EXACT [] synonym: "Turf Toes" EXACT [] xref: MESH:D018409 is_a: DOID:9008911 ! Leg Injuries [Term] id: DOID:9002097 name: High Cardiac Output def: "A state of elevated cardiac output due to conditions of either increased hemodynamic demand or reduced cardiac oxygen output. These conditions may include ANEMIA; ARTERIOVENOUS FISTULA; THYROTOXICOSIS; PREGNANCY; EXERCISE; FEVER; and HYPOXIA. In time, compensatory changes of the heart can lead to pathological form of high cardiac output and eventual HEART FAILURE." [MESH:D016534] synonym: "High Cardiac Outputs" EXACT [] xref: MESH:D016534 is_a: DOID:114 ! heart disease is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9002098 name: Tick-Borne Diseases def: "Bacterial, viral, or parasitic diseases transmitted to humans and animals by the bite of infected ticks. The families Ixodidae and Argasidae contain many bloodsucking species that are important pests of man and domestic birds and mammals and probably exceed all other arthropods in the number and variety of disease agents they transmit. Many of the tick-borne diseases are zoonotic." [MESH:D017282] synonym: "Tick-Borne Disease" EXACT [] synonym: "Tick-Borne Infection" EXACT [] synonym: "Tick Borne Infections" EXACT [] xref: MESH:D017282 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9007579 ! Arbovirus Infections is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9002099 name: Thalamic Degeneration Symmetrical Infantile alt_id: MIM:273490 synonym: "Thalamic Degeneration, Symmetric Infantile" EXACT [] xref: MESH:C536504 is_a: DOID:4662 ! thalamic disease [Term] id: DOID:9002102 name: chemotherapy-induced alopecia synonym: "chemotherapy-induced hair loss" EXACT [] xref: EFO:0005400 is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions is_a: DOID:987 ! alopecia created_by: slaulede creation_date: 2023-01-12T12:42:02Z [Term] id: DOID:9002103 name: Spontaneous Perforation def: "A pathological hole in an organ, blood vessel or other soft part of the body, occurring in the absence of external force." [MESH:D000072663] synonym: "Spontaneous Perforations" EXACT [] xref: MESH:D000072663 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9002104 name: Chromosome 21, Monosomy 21q22 synonym: "Deletion 21q22" EXACT [] synonym: "Monosomy 21q22" EXACT [] xref: MESH:C537110 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9002106 name: Pneumococcal Pneumonia def: "A febrile disease caused by STREPTOCOCCUS PNEUMONIAE." [MESH:D011018] synonym: "Pneumococcal Pneumonias" EXACT [] xref: EFO:1001474 xref: MESH:D011018 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9000989 ! Pneumococcal Infections [Term] id: DOID:9002107 name: Deafness, Autosomal Dominant Nonsyndromic Sensorineural 53 xref: MESH:C538201 xref: RDO:0004144 is_a: DOID:0060140 ! cortical deafness [Term] id: DOID:9002108 name: Camptodactyly Vertebral Fusion synonym: "Camptodactyly and sacral vertebral fusion" EXACT [] xref: MESH:C537973 is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9002109 name: STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS def: "A disease characterized by small head circumference with abnormalities in brain anatomy including variable deficiency of the corpus callosum (including agenesis), abnormal conformation of the ventricles and posterior fossa, hypoplasia of both cerebellar hemispheres, colpocephaly, and partial rhombencephalosynapsis (absence of the cerebellar vermis with fusion of the cerebellar hemispheres). Intellectual development is moderately to severely impaired." [MIM:618736] synonym: "BAIDCS" EXACT [] xref: MIM:618736 is_a: DOID:1059 ! intellectual disability is_a: DOID:2340 ! craniosynostosis created_by: slaulede creation_date: 2020-02-17T14:49:11Z [Term] id: DOID:9002110 name: Laryngismus def: "A disorder in which the adductor muscles of the VOCAL CORDS exhibit increased activity leading to laryngeal spasm. Laryngismus causes closure of the VOCAL FOLDS and airflow obstruction during inspiration." [MESH:D007826] synonym: "Laryngeal Spasm" EXACT [] synonym: "Laryngeal Spasms" EXACT [] synonym: "Laryngospasm" EXACT [] synonym: "Laryngospasms" EXACT [] xref: MESH:D007826 is_a: DOID:9004183 ! Vocal Cord Dysfunction [Term] id: DOID:9002111 name: Dyssomnias def: "A broad category of sleep disorders characterized by either hypersomnolence or insomnia. The three major subcategories include intrinsic (i.e., arising from within the body) (SLEEP DISORDERS, INTRINSIC), extrinsic (secondary to environmental conditions or various pathologic conditions), and disturbances of circadian rhythm. (From Thorpy, Sleep Disorders Medicine, 1994, p187)" [MESH:D020920] synonym: "Adjustment Sleep Disorder" EXACT [] synonym: "Adjustment Sleep Disorders" EXACT [] synonym: "Dyssomnia" EXACT [] synonym: "Environmental Sleep Disorder" EXACT [] synonym: "Environmental Sleep Disorders" EXACT [] synonym: "Extrinsic Sleep Disorder" EXACT [] synonym: "Extrinsic Sleep Disorders" EXACT [] synonym: "Limit Setting Sleep Disorder" EXACT [] synonym: "Limit-Setting Sleep Disorders" EXACT [] synonym: "Nocturnal Eating Drinking Syndrome" EXACT [] synonym: "Nocturnal Eating-Drinking Syndromes" EXACT [] xref: MESH:D020920 is_a: DOID:535 ! sleep disorder [Term] id: DOID:9002112 name: Wiedemann-Steiner syndrome def: "This disease is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, broad nasal bridge, and downslanting and vertically narrow palpebral fissures; mild to moderate intellectual disability; behavioral difficulties; and hypertrichosis on the back." [] synonym: "Growth Deficiency and Mental Retardation with Facial Dysmorphism" EXACT [] synonym: "hairy elbows, short stature, facial dysmorphism, and developmental delay" EXACT [] synonym: "KMT2A-RELATED CONDITION" EXACT [] synonym: "WDSTS" EXACT [] xref: MESH:C565358 xref: MIM:605130 xref: MONDO:0011518 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002113 name: Progressive Myoclonic Epilepsy 2B xref: MESH:C564976 is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:9002114 name: Charcot-Marie-Tooth Disease Axonal Type 2HH def: "An autosomal dominant peripheral neuropathy characterized predominantly by onset of vocal cord weakness resulting in stridor in infancy or early childhood. Caused by heterozygous mutation in the JAG1 gene on chromosome 20p12. (OMIM)" [] synonym: "Charcot-Marie-Tooth neuropathy type 2HH" EXACT [] synonym: "CMT2HH" EXACT [] xref: MIM:619574 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 created_by: mtutaj creation_date: 2021-10-27T16:51:00Z [Term] id: DOID:9002115 name: Cutis Verticis Gyrata and Mental Deficiency alt_id: MIM:219300 synonym: "cutis verticis gyrata and mental retardation" EXACT [] xref: MESH:C565661 is_a: DOID:1059 ! intellectual disability is_a: DOID:3136 ! scalp dermatosis [Term] id: DOID:9002116 name: Congenitally Corrected Transposition of the Great Arteries synonym: "Congenitally Corrected TGA" EXACT [] synonym: "Congenitally Corrected TGAs" EXACT [] synonym: "Congenitally corrected transposition of the great vessels" EXACT [] xref: MESH:D000080041 is_a: DOID:0060770 ! dextro-looped transposition of the great arteries [Term] id: DOID:9002117 name: Hypoalphalipoproteinemias alt_id: DOID:9002708 alt_id: MIM:605201 alt_id: RDO:0004371 def: "Conditions with abnormally low levels of ALPHA-LIPOPROTEINS (high-density lipoproteins) in the blood. Hypoalphalipoproteinemia can be associated with mutations in genes encoding APOLIPOPROTEIN A-I; LECITHIN CHOLESTEROL ACYLTRANSFERASE; and ATP-BINDING CASSETTE TRANSPORTERS." [MESH:D052456] synonym: "familial alpha lipoprotein deficiency disease" EXACT [] synonym: "Familial Hypoalphalipoproteinemia" EXACT [] synonym: "Familial Hypoalphalipoproteinemias" EXACT [] synonym: "FHA" EXACT [] synonym: "FHD" EXACT [] synonym: "HDLC" EXACT [] synonym: "HDL Cholesterol, Low Serum" EXACT [] synonym: "HDLD" EXACT [] synonym: "HDL Lipoprotein Deficiency Disease" EXACT [] synonym: "HIGH DENSITY LIPOPROTEIN DEFICIENCY" EXACT [] synonym: "Hypo alpha Lipoproteinemia" EXACT [] synonym: "Hypoalphalipoproteinemia" EXACT [] synonym: "hypo alpha lipoproteinemias" EXACT [] synonym: "PLTP POLYMORPHISM" RELATED [] xref: MESH:D052456 is_a: DOID:1387 ! hypolipoproteinemia [Term] id: DOID:9002118 name: Lectin Complement Activation Pathway Defects xref: MIM:PS614372 is_a: DOID:626 ! complement deficiency created_by: mtutaj creation_date: 2022-08-08T11:30:08Z [Term] id: DOID:9002119 name: Malignant Hypothermia synonym: "Hypothermia due to anesthetic" EXACT [] synonym: "Malignant hypothermia due to anesthesia" EXACT [] is_a: DOID:9002395 ! Hypothermia created_by: rgd creation_date: 2016-01-14T00:00:00Z [Term] id: DOID:9002120 name: Congenital Mydriasis alt_id: MIM:159420 synonym: "BILATERAL CONGENITAL MYDRIASIS" NARROW [] xref: HP:0007932 xref: MESH:C563221 is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9007554 ! Mydriasis [Term] id: DOID:9002121 name: Spinocerebellar Ataxias def: "A group of dominantly inherited, predominately late-onset, cerebellar ataxias which have been divided into multiple subtypes based on clinical features and genetic mapping. Progressive ataxia is a central feature of these conditions, and in certain subtypes POLYNEUROPATHY; DYSARTHRIA; visual loss; and other disorders may develop. (From Joynt, Clinical Neurology, 1997, Ch65, pp 12-17; J Neuropathol Exp Neurol 1998 Jun;57(6):531-43)" [MESH:D020754] synonym: "cerebellar degeneration with slow eye movements" EXACT [] synonym: "dominantly-inherited spinocerebellar ataxia" EXACT [] synonym: "dominantly inherited spinocerebellar ataxias" EXACT [] synonym: "SDSEM AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 13" NARROW [] synonym: "spinocerebellar ataxia" EXACT [] synonym: "SPINOCEREBELLAR ATAXIA, DOMINANT" NARROW [] synonym: "spinocerebellar ataxia, recessive" NARROW [] synonym: "spinocerebellar atrophies" EXACT [] synonym: "spinocerebellar atrophy" EXACT [] xref: EFO:0002624 xref: MESH:D020754 is_a: DOID:9004866 ! Ataxia is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:9002122 name: Nanophthalmos 2 synonym: "Nanophthalmia 2" EXACT [] synonym: "Nanophthalmos, Autosomal Recessive" EXACT [] synonym: "NNO2" EXACT [] xref: MESH:C563700 xref: MIM:609549 xref: MONDO:0012299 is_a: DOID:0080634 ! nanophthalmos [Term] id: DOID:9002123 name: Familial Hypobetalipoproteinemia, Apolipoprotein B def: "An autosomal dominant disorder of lipid metabolism. It is caused by mutations of APOLIPOPROTEINS B, main components of CHYLOMICRONS and BETA-LIPOPROTEINS (low density lipoproteins or LDL). Features include abnormally low LDL, normal triglyceride level, and dietary fat malabsorption." [MESH:D052476] synonym: "Abetalipoproteinemia, Normotriglyceridemic, Steinbert Type" EXACT [] synonym: "Apolipoprotein B Deficiencies" EXACT [] synonym: "Apolipoprotein B Deficiency" EXACT [] synonym: "Apolipoprotein B Deficiency Disease" EXACT [] synonym: "Hypobetalipoproteinemia, Familial, Apo B" EXACT [] xref: EFO:1001789 xref: MESH:D052476 xref: RDO:0007592 is_a: DOID:1390 ! hypobetalipoproteinemia [Term] id: DOID:9002124 name: IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA def: "This disease is primarily a lung disorder characterized by onset of respiratory insufficiency due to pulmonary alveolar proteinosis (PAP) in the first months of life. Development of the disorder appears to be influenced or triggered by viral infection, manifest as progressive respiratory insufficiency, confluent consolidations on lung imaging, and diffuse collection of periodic acid-Schiff (PAS)-positive material in pulmonary alveoli associated with small and nonfoamy alveolar macrophages. Patients also have hypogammaglobulinemia, leukocytosis, and splenomegaly." [MIM:618042] synonym: "IMD100" EXACT [] synonym: "OAS1-RELATED CONDITION" EXACT [] synonym: "PAPHG" EXACT [] synonym: "PULMONARY ALVEOLAR PROTEINOSIS WITH HYPOGAMMAGLOBULINEMIA" EXACT [] xref: MIM:618042 is_a: DOID:11162 ! respiratory failure is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:9001039 ! Leukocytosis is_a: DOID:9002720 ! Splenomegaly created_by: slaulede creation_date: 2022-07-07T17:14:36Z [Term] id: DOID:9002125 name: Hip Socket Neuropathy synonym: "Deep gluteal syndrome" EXACT [] synonym: "Pseudosciatica" EXACT [] synonym: "Wallet sciatica" EXACT [] xref: MESH:C531783 xref: RDO:0000198 is_a: DOID:9000452 ! Piriformis Muscle Syndrome is_a: DOID:9007194 ! Sciatica [Term] id: DOID:9002126 name: Osteosclerosis with Ichthyosis and Premature Ovarian Failure alt_id: MIM:609993 synonym: "Sclerosing dysplasia of bone with ichthyosis and premature ovarian failure" EXACT [] xref: MESH:C536064 is_a: DOID:0080006 ! bone development disease is_a: DOID:1702 ! ichthyosis vulgaris is_a: DOID:5426 ! primary ovarian insufficiency is_a: DOID:9007896 ! Sclerosis [Term] id: DOID:9002127 name: Osteofibrous Dysplasia alt_id: DOID:9006748 alt_id: MESH:C563787 alt_id: MIM:607278 synonym: "bowing of tibia with pseudarthrosis and pectus excavatum" EXACT [] synonym: "OFD" EXACT [] synonym: "OSFD" EXACT [] synonym: "osteofibrous dysplasia, susceptibility to" RELATED [] xref: MESH:C563276 is_a: DOID:0080006 ! bone development disease is_a: DOID:9001510 ! Funnel Chest is_a: DOID:9007769 ! Pseudarthrosis is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital [Term] id: DOID:9002128 name: Adrenogenital Syndrome def: "Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children." [MESH:D047808] synonym: "Adrenogenital Syndromes" EXACT [] xref: MESH:D047808 xref: RDO:0004758 is_a: DOID:1923 ! disorder of sexual development is_a: DOID:225 ! syndrome [Term] id: DOID:9002129 name: Candidiasis, Familial, 6 synonym: "CANDF6" EXACT [] synonym: "familial chronic mucocutaneous candidiasis, autosomal dominant" BROAD [] xref: MIM:613956 is_a: DOID:2058 ! chronic mucocutaneous candidiasis [Term] id: DOID:9002130 name: Bisphosphonate-Associated Osteonecrosis of the Jaw def: "Necrotic jaws or other maxillofacial skeleton necrosis associated with bisphosphonate use (see BISPHOSPHONATES). Injury, dental procedures, and trauma can trigger the necrotic process." [MESH:D059266] synonym: "Bisphosphonate-Associated Osteonecroses" EXACT [] synonym: "Bisphosphonate Associated Osteonecrosis" EXACT [] synonym: "Bisphosphonate Associated Osteonecrosis of the Jaws" EXACT [] synonym: "Bisphosphonate Induced Osteonecrosis of the Jaw" EXACT [] synonym: "Bisphosphonate Induced Osteonecrosis of the Jaws" EXACT [] synonym: "Bisphosphonate Osteonecroses" EXACT [] synonym: "Bisphosphonate Osteonecrosis" EXACT [] synonym: "Bisphosphonate Related Osteonecrosis of the Jaw" EXACT [] synonym: "Osteonecrosis of the Jaws, Bisphosphonate Related" EXACT [] xref: MESH:D059266 xref: RDO:0010003 is_a: DOID:10159 ! osteonecrosis is_a: DOID:9003876 ! Jaw Diseases [Term] id: DOID:9002132 name: Congenital Disorder of Glycosylation Type IIw def: "An autosomal dominant metabolic disorder characterized by liver dysfunction, coagulation deficiencies, and profound abnormalities in N-glycosylation of serum specific proteins. Caused by a heterozygous mutation in the G6PT1 gene, which encodes glucose-6-phosphate translocase, on chromosome 11q23. (OMIM)" [] synonym: "CDG2W" EXACT [] xref: MIM:619525 is_a: DOID:0050571 ! congenital disorder of glycosylation type II created_by: mtutaj creation_date: 2021-09-16T14:59:07Z [Term] id: DOID:9002133 name: Singleton-Merten Syndrome 2 def: "A syndrome with variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies. (OMIM)" [] synonym: "SGMRT2" EXACT [] xref: MIM:616298 is_a: DOID:9007304 ! Singleton Merten Syndrome created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:9002134 name: Heart Murmurs def: "Heart sounds caused by vibrations resulting from the flow of blood through the heart. Heart murmurs can be examined by HEART AUSCULTATION, and analyzed by their intensity (6 grades), duration, timing (systolic, diastolic, or continuous), location, transmission, and quality (musical, vibratory, blowing, etc)." [MESH:D006337] synonym: "Cardiac Murmur" EXACT [] synonym: "Cardiac Murmurs" EXACT [] synonym: "Diastolic Murmur" EXACT [] synonym: "Diastolic Murmurs" EXACT [] synonym: "Heart Murmur" EXACT [] synonym: "Innocent Murmur" EXACT [] synonym: "Innocent Murmurs" EXACT [] xref: MESH:D006337 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9002135 name: Congenital Infantile Lactic Acidosis due to LAD Deficiency alt_id: MIM:246900 synonym: "dihydrolipoamide dehydrogenase deficiency" EXACT [] synonym: "DLDD" EXACT [] synonym: "DLD deficiency" EXACT [] synonym: "DLD-RELATED DISORDER" EXACT [] synonym: "E3 Deficiency" EXACT [] synonym: "Lipoamide Dehydrogenase Deficiency, Lactic Acidosis due to" EXACT [] synonym: "maple syrup urine disease, type 3" EXACT [] synonym: "maple syrup urine disease, type III" EXACT [] xref: MESH:C573012 is_a: DOID:9004872 ! Congenital Infantile Lactic Acidosis is_a: DOID:9269 ! maple syrup urine disease [Term] id: DOID:9002137 name: Infectious Ectromelia def: "A viral infection of mice, causing edema and necrosis followed by limb loss." [MESH:D004482] synonym: "Mouse Pox" EXACT [] synonym: "Mousepox" EXACT [] xref: EFO:0007325 xref: MESH:D004482 is_a: DOID:8729 ! milker's nodule is_a: DOID:9004990 ! Rodent Diseases [Term] id: DOID:9002138 name: Spinal Cord Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the spinal cord, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "spinal cord ischemia-reperfusion injury" EXACT [] is_a: DOID:9004009 ! Reperfusion Injury is_a: DOID:9004922 ! Spinal Cord Ischemia created_by: rgd creation_date: 2015-07-17T00:00:00Z [Term] id: DOID:9002139 name: Systemic Autoinflammatory Disease, X-Linked def: "Thuis disease is characterized by the onset of systemic autoinflammation in the first months of life. Features include lymphadenopathy, hepatosplenomegaly, fever, panniculitis, and nodular skin rash. Laboratory studies show hypogammaglobulinemia, autoimmune cytopenias, elevated serum inflammatory markers, and a type I interferon signature." [MIM:301081] synonym: "SAIDX" EXACT [] xref: MIM:301081 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: slaulede creation_date: 2022-07-29T10:27:09Z [Term] id: DOID:9002140 name: Microtia, Meatal Atresia and Conductive Deafness alt_id: MIM:251800 synonym: "Familial microtia and meatal atresia" EXACT [] synonym: "Familial microtia with meatal atresia and conductive deafness" EXACT [] synonym: "Gupta Patton syndrome" EXACT [] synonym: "Microtia meatal atresia deafness dominant" EXACT [] synonym: "Microtia with meatal atresia and conductive deafness" EXACT [] xref: MESH:C537469 is_a: DOID:9001502 ! Congenital Microtia is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9002141 name: Anaplasia def: "Loss of structural differentiation and useful function of neoplastic cells." [MESH:D000708] synonym: "Anaplasias" EXACT [] xref: MESH:D000708 is_a: DOID:9008192 ! Neoplastic Processes [Term] id: DOID:9002143 name: Visceral Heterotaxy 2, Autosomal synonym: "HTX" EXACT [] synonym: "HTX2" EXACT [] xref: MIM:605376 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:9002144 name: Endoleak def: "Postoperative hemorrhage from an endovascular AORTIC ANEURYSM repaired with endoluminal placement of stent grafts (BLOOD VESSEL PROSTHESIS IMPLANTATION). It is associated with pressurization, expansion, and eventual rupture of the aneurysm." [MESH:D057867] synonym: "Endoleaks" EXACT [] synonym: "Perigraft Leak" EXACT [] synonym: "Perigraft Leaks" EXACT [] xref: MESH:D057867 is_a: DOID:9001665 ! Aneurysm is_a: DOID:9008517 ! Postoperative Hemorrhage [Term] id: DOID:9002145 name: Triphalangeal Thumbs with Brachyectrodactyly alt_id: MIM:190680 synonym: "Triphalangeal thumb and brachy-ectrodactyly syndrome" EXACT [] synonym: "Triphalangeal thumb and brachyectrodactyly syndrome" EXACT [] synonym: "Triphalangeal Thumbs Brachyectrodactyly" EXACT [] xref: MESH:C536564 is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002146 name: Subungual Exostoses alt_id: MIM:603656 synonym: "Dupuytren subungual exostosis" EXACT [] xref: MESH:C535723 is_a: DOID:203 ! exostosis is_a: DOID:4123 ! nail disease is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:9002147 name: Dysmyelination with Jaundice alt_id: MIM:224250 xref: MESH:C565610 is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:1969 ! cerebral palsy is_a: DOID:9004898 ! Jaundice is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:9002148 name: Aspergillus Niger Infection synonym: "Aspergillus niger infection, pulmonary" EXACT [] xref: MESH:C535390 is_a: DOID:13564 ! aspergillosis is_a: DOID:9005724 ! Fungal Lung Diseases [Term] id: DOID:9002150 name: RNA Virus Infections def: "Diseases caused by RNA VIRUSES." [MESH:D012327] synonym: "RNA Virus Infection" EXACT [] xref: MESH:D012327 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9002152 name: IFAP Syndrome synonym: "ichthyosis follicularis, atrichia, and photophobia syndrome" EXACT [] synonym: "Ichthyosis Follicularis Atrichia Photophobia Syndrome" EXACT [] xref: GARD:2952 xref: MIM:PS308205 xref: ORDO:2273 is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9003137 ! Photophobia is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2021-02-15T09:53:20Z [Term] id: DOID:9002153 name: Chronic Allograft Dysfunction def: "Chronic and progressive pathophysiological changes associated with solid organ transplantation." [] synonym: "CAD" EXACT [] is_a: DOID:9004009 ! Reperfusion Injury is_a: DOID:9004283 ! Transplant Rejection [Term] id: DOID:9002154 name: Crossed Polysyndactyly alt_id: MIM:175690 xref: MESH:C566773 is_a: DOID:11193 ! syndactyly is_a: DOID:1148 ! polydactyly [Term] id: DOID:9002155 name: Breakthrough Pain def: "Acute pain that comes on rapidly despite the use of pain medication." [MESH:D059390] synonym: "Breakthrough Pains" EXACT [] xref: MESH:D059390 xref: RDO:0010016 is_a: DOID:9000641 ! Pain [Term] id: DOID:9002156 name: Takao VCF Syndrome synonym: "Conotruncal Anomaly Face Syndrome" EXACT [] synonym: "Conotruncal Anomaly Face Syndrome (CTAF)" EXACT [] xref: MESH:C566051 is_a: DOID:11198 ! DiGeorge syndrome [Term] id: DOID:9002157 name: Erythremia, Alpha-Globin Type xref: MESH:C564195 is_a: DOID:8997 ! polycythemia vera [Term] id: DOID:9002158 name: Visceral Heterotaxy 11, Autosomal def: "Characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Caused by homozygous or compound heterozygous mutation in the CFAP45 gene on chromosome 1q23." [MIM:619608] synonym: "autosomal visceral heterotaxy 11 with male infertility" EXACT [] synonym: "HTX11" EXACT [] xref: MIM:619608 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:12336 ! male infertility created_by: mtutaj creation_date: 2021-11-09T14:26:18Z [Term] id: DOID:9002159 name: Liver Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the liver, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "Hepatic Ischemia-Reperfusion Injury" EXACT [] synonym: "Hepatic Reperfusion Injury" EXACT [] synonym: "Liver Ischemia-Reperfusion Injury" EXACT [] is_a: DOID:9004009 ! Reperfusion Injury is_a: DOID:9008691 ! Liver Injury [Term] id: DOID:9002160 name: Barotrauma def: "Injury following pressure changes; includes injury to the eustachian tube, ear drum, lung and stomach." [MESH:D001469] synonym: "Barotraumas" EXACT [] xref: MESH:D001469 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9002161 name: Gender Dysphoria def: "A marked difference between the individual’s expressed/experienced gender and the gender others would assign him or her, and it must continue for at least six months. (from DSM-5)" [MESH:D000068116] xref: MESH:D000068116 xref: RDO:0016008 is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:9002162 name: Carotid Body Tumor def: "Benign paraganglioma at the bifurcation of the COMMON CAROTID ARTERIES. It can encroach on the parapharyngeal space and produce dysphagia, pain, and cranial nerve palsies." [MESH:D002345] synonym: "Benign Carotid Body Paraganglioma" EXACT [] synonym: "Carotid Body Paraganglioma" EXACT [] synonym: "carotid body paragangliomas" EXACT [] synonym: "carotid body paraganglioma, somatic" RELATED [] synonym: "carotid body tumors" EXACT [] xref: EFO:1000108 xref: MESH:D002345 is_a: DOID:0050773 ! paraganglioma [Term] id: DOID:9002163 name: Silver-Russell Syndrome 3 synonym: "GRDF" EXACT [] synonym: "IGF2-RELATED CONDITION" EXACT [] synonym: "severe growth restriction with distinctive facies" EXACT [] synonym: "SRS3" EXACT [] xref: MIM:616489 is_a: DOID:14681 ! Silver-Russell syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002165 name: Diabetic Nephropathies def: "KIDNEY injuries associated with diabetes mellitus and affecting KIDNEY GLOMERULUS; ARTERIOLES; KIDNEY TUBULES; and the interstitium. Clinical signs include persistent PROTEINURIA, from microalbuminuria progressing to ALBUMINURIA of greater than 300 mg/24 h, leading to reduced GLOMERULAR FILTRATION RATE and END-STAGE RENAL DISEASE." [MESH:D003928] synonym: "diabetic glomerulosclerosis" EXACT [] synonym: "Diabetic Kidney Disease" EXACT [] synonym: "Diabetic Kidney Diseases" EXACT [] synonym: "Diabetic Nephropathy" EXACT [] synonym: "diabetic nephropathy, susceptibility to" RELATED [] synonym: "Intracapillary Glomerulosclerosis" EXACT [] synonym: "Kimmelstiel Wilson disease" EXACT [] synonym: "Kimmelstiel Wilson syndrome" EXACT [] synonym: "nodular glomerulosclerosis" EXACT [] synonym: "type 1 diabetes nephropathy" NARROW [] synonym: "type 2 diabetes nephropathy" NARROW [] xref: EFO:0000401 xref: EFO:0004996 xref: EFO:0004997 xref: MESH:D003928 xref: NCI:C84417 is_a: DOID:557 ! kidney disease is_a: DOID:9002661 ! Diabetes Complications [Term] id: DOID:9002166 name: Pseudoangiomatous Stromal Hyperplasia synonym: "Mammary pseudoangiomatous stromal hyperplasia" EXACT [] synonym: "Pseudoangiomatous stromal hyperplasia of the breast" EXACT [] xref: MESH:C535824 xref: RDO:0001142 is_a: DOID:3463 ! breast disease is_a: DOID:9002221 ! Hyperplasia is_a: DOID:9004079 ! Angiomatosis [Term] id: DOID:9002168 name: Conducted Energy Weapon Injuries def: "The injuries caused by conducted energy weapons such as stun guns, shock batons, and cattle prods." [MESH:D057667] synonym: "Stun Gun Injuries" EXACT [] synonym: "Stun Gun Injury" EXACT [] synonym: "TASER Injuries" EXACT [] synonym: "TASER Injury" EXACT [] xref: MESH:D057667 xref: RDO:0007789 is_a: DOID:9001588 ! Electric Injuries [Term] id: DOID:9002170 name: Experimental Neoplasms def: "Experimentally induced new abnormal growth of TISSUES in animals to provide models for studying human neoplasms." [MESH:D009374] synonym: "Experimental Neoplasm" EXACT [] xref: MESH:D009374 is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9002171 name: Diencephalic-Mesencephalic Junction Dysplasia Syndromes synonym: "DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA" EXACT [] synonym: "diencephalic-mesencephalic junction dysplasia syndrome" EXACT [] xref: MIM:PS251280 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2019-11-21T11:49:24Z [Term] id: DOID:9002172 name: Sacral Meningocele Conotruncal Heart Defects synonym: "Kousseff syndrome" EXACT [] xref: MESH:C537223 is_a: DOID:0060326 ! myelomeningocele is_a: DOID:1682 ! congenital heart disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002173 name: osteogenesis imperfecta type 23 def: "This disease is a mild recessive form of OI, characterized by osteopenia with or without recurrent fractures, platyspondyly, short and bowed long bones, and widened metaphyses. Metaphyseal and vertebral changes regress after early childhood; osteopenia persists, but responds well to bisphosphonate." [MIM:620639] synonym: "OI23" EXACT [] synonym: "OSTEOGENESIS IMPERFECTA, TYPE XXIII" EXACT [] xref: MIM:620639 is_a: DOID:12347 ! osteogenesis imperfecta created_by: slaulederkind creation_date: 2024-02-09T10:09:35Z [Term] id: DOID:9002174 name: Disease Susceptibility def: "A constitution or condition of the body which makes the tissues react in special ways to certain extrinsic stimuli and thus tends to make the individual more than usually susceptible to certain diseases." [MESH:D004198] synonym: "Diatheses" EXACT [] synonym: "Diathesis" EXACT [] synonym: "Disease Susceptibilities" EXACT [] xref: MESH:D004198 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9002175 name: Deafness with Anhidrotic Ectodermal Dysplasia alt_id: MIM:125050 xref: MESH:C565119 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9008681 ! Deafness [Term] id: DOID:9002176 name: Paroxysmal Hemicrania def: "A primary headache disorder that is similar to the CLUSTER HEADACHE with unilateral head pain, but differs by its multiple short severe attacks. It is usually seen in females, and may be responsive to non-steroidal-anti-inflammatory drugs (NSAIDS)." [MESH:D051302] synonym: "Chronic Paroxysmal Hemicrania" EXACT [] synonym: "Chronic Paroxysmal Hemicranias" EXACT [] synonym: "Episodic Paroxysmal Hemicrania" EXACT [] synonym: "Episodic Paroxysmal Hemicranias" EXACT [] synonym: "Paroxysmal Hemicranias" EXACT [] xref: EFO:1001822 xref: MESH:D051302 xref: RDO:0007580 is_a: DOID:9006338 ! Trigeminal Autonomic Cephalalgias [Term] id: DOID:9002177 name: Walbaum Titran Durieux Crepin Syndrome xref: MESH:C536566 xref: RDO:0002185 is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002178 name: Reticuloendotheliosis, X-Linked alt_id: MIM:312500 synonym: "Reticuloendotheliosis" EXACT [] xref: MESH:C538362 xref: RDO:0004334 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:9002179 name: Glomerular Hyperfiltration def: "An increase in the glomerular filtration rate (GFR) that is associated with type 1 diabetes mellitus, pregnancy, kidney diseases, blood disorders, obesity, and others." [] xref: RDO:9000067 is_a: DOID:9000104 ! Glomerular Diseases [Term] id: DOID:9002180 name: Familial Hyperchylomicronemia Syndrome synonym: "Hyperlipoproteinemia, type 1" EXACT [] xref: MESH:C538489 is_a: DOID:14118 ! familial lipoprotein lipase deficiency is_a: DOID:225 ! syndrome [Term] id: DOID:9002182 name: Cafe au lait Spots, Multiple alt_id: MIM:114030 xref: MESH:C537421 xref: RDO:0003264 is_a: DOID:9002453 ! Cafe-au-Lait Spots [Term] id: DOID:9002183 name: Heterotopic Pregnancy def: "MULTIPLE PREGNANCY with EMBRYO IMPLANTATION occuring at different locations, involving both an intrauterine site and an extrauterine (ECTOPIC PREGNANCY) site." [MESH:D063192] synonym: "Heterotopic Pregnancies" EXACT [] xref: MESH:D063192 is_a: DOID:0060329 ! ectopic pregnancy [Term] id: DOID:9002184 name: Megalencephaly with Dysmyelination alt_id: MIM:249240 synonym: "Megalencephaly with Diffuse White Matter Hypodensity" EXACT [] xref: MESH:C565408 is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:9002185 name: Sclerosing Bone Dysplasia, Mental Retardation synonym: "mixed sclerosing bone dysplasia and mental retardation" EXACT [] xref: MESH:C537523 is_a: DOID:0080001 ! bone disease is_a: DOID:1059 ! intellectual disability is_a: DOID:9007896 ! Sclerosis [Term] id: DOID:9002186 name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 alt_id: RDO:9001230 def: "An overgrowth syndrome comprising megalencephaly, hydrocephalus, polymicrogyria, and sometimes polydactyly. (OMIM)" [] synonym: "megalancephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" EXACT [] synonym: "MPPH2" EXACT [] xref: MIM:615937 is_a: DOID:9002403 ! Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome created_by: rgd creation_date: 2016-08-10T00:00:00Z [Term] id: DOID:9002188 name: Hypoinsulinemia def: "A decreased concentration of insulin in the blood." [] xref: RDO:9000335 is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:9002189 name: High Myopia def: "This is a severe form of myopia in which the eyeball stretches and becomes too long. This can lead to holes or tears in the retina and further complications." [] synonym: "severe myopia" EXACT [] is_a: DOID:11830 ! myopia [Term] id: DOID:9002190 name: Meckel Syndrome 12 synonym: "KIF14-RELATED CONDITION" BROAD [] synonym: "Meckel Syndrome, Type 12" EXACT [] synonym: "MKS12" EXACT [] xref: MIM:616258 is_a: DOID:0050778 ! Meckel syndrome is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9000983 ! Encephalocele created_by: rgd creation_date: 2017-05-04T00:00:00Z [Term] id: DOID:9002191 name: Thymic Aplasia with Fetal Death alt_id: MIM:274210 xref: MESH:C564768 is_a: DOID:9001916 ! Fetal Death is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002192 name: Urticaria, Familial Localized Heat alt_id: MIM:191950 xref: MESH:C566011 is_a: DOID:1555 ! urticaria [Term] id: DOID:9002193 name: Myopia 8 alt_id: MIM:609257 synonym: "MYP8" EXACT [] xref: MESH:C563760 is_a: DOID:11830 ! myopia [Term] id: DOID:9002194 name: Nonmedullary Thyroid Carcinoma, with or without Cell Oxyphilia alt_id: MIM:603386 synonym: "TCO" EXACT [] synonym: "TCO1" EXACT [] xref: MESH:C537842 xref: RDO:0003751 is_a: DOID:1781 ! thyroid cancer [Term] id: DOID:9002195 name: Atrial Dilation and Standstill synonym: "atrial dilated cardiomyopathy with atrial standstill" EXACT [] synonym: "atrial standstill" RELATED [] is_a: DOID:0050700 ! cardiomyopathy [Term] id: DOID:9002198 name: Diarrhea 11 synonym: "congenital malabsorptive diarrhea 11" EXACT [] synonym: "DIAR11" EXACT [] synonym: "IDIS" EXACT [] synonym: "intractable diarrhea of infancy syndrome" EXACT [] xref: MIM:618662 is_a: DOID:9007847 ! Infantile Diarrhea created_by: mtutaj creation_date: 2019-11-15T11:08:11Z [Term] id: DOID:9002199 name: Paragangliomas 1 synonym: "familial paragangliomas, 1" EXACT [] synonym: "Paragangliomas, Familial Nonchromaffin, 1" EXACT [] synonym: "PGL1" EXACT [] synonym: "pheochromocytoma/paraganglioma syndrome 1" EXACT [] synonym: "PPGL1" EXACT [] xref: MIM:168000 is_a: DOID:0050773 ! paraganglioma [Term] id: DOID:9002200 name: Postaxial Polydactyly, Type A9 def: "A disease characterized by one or more posterior or postaxial digits. (OMIM)" [] synonym: "PAPA9" EXACT [] xref: EFO:0010250 xref: MIM:618219 xref: MONDO:0032603 is_a: DOID:9003071 ! Postaxial Polydactyly created_by: slaulede creation_date: 2019-01-16T16:57:23Z [Term] id: DOID:9002201 name: Maxillary Neoplasms def: "Cancer or tumors of the MAXILLA or upper jaw." [] synonym: "maxillary neoplasm" EXACT [] xref: EFO:0007360 xref: MESH:D008441 is_a: DOID:9002484 ! Maxillary Diseases is_a: DOID:9004594 ! Jaw Neoplasms [Term] id: DOID:9002202 name: Opsismodysplasia alt_id: MIM:258480 def: "Opsismodysplasia is a rare skeletal dysplasia involving delayed bone maturation. Clinical signs observed at birth include short limbs, small hands and feet, relative macrocephaly with a large anterior fontanel, and characteristic craniofacial abnormalities including a prominent brow, depressed nasal bridge, a small anteverted nose, and a relatively long philtrum. Death in utero or secondary to respiratory failure during the first few years of life has been reported, but there can be long-term survival. Typical radiographic findings include shortened long bones with delayed epiphyseal ossification, severe platyspondyly, metaphyseal cupping, and characteristic abnormalities of the metacarpals and phalanges." [] synonym: "DELAYED SKELETAL MATURATION" NARROW [] synonym: "OPSMD" EXACT [] xref: MESH:C537122 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9002204 name: Pseudorabies def: "A highly contagious herpesvirus infection affecting the central nervous system of swine, cattle, dogs, cats, rats, and other animals." [MESH:D011557] synonym: "Aujeszky's Disease" EXACT [] synonym: "Aujeszky Disease" EXACT [] synonym: "Aujeszkys Disease" EXACT [] xref: EFO:0007457 xref: MESH:D011557 is_a: DOID:9002834 ! Herpesviridae Infections is_a: DOID:9003736 ! Central Nervous System Viral Diseases is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9002205 name: Periventricular Nodular Heterotopia 2 alt_id: MIM:608097 alt_id: RDO:0013309 synonym: "ARPHM" EXACT [] synonym: "Periventricular heterotopia, autosomal recessive" EXACT [] synonym: "Periventricular heterotopia with microcephaly" EXACT [] synonym: "Periventricular Heterotopia with Microcephaly, Autosomal Recessive" EXACT [] synonym: "PVNH2" EXACT [] xref: MESH:C564292 is_a: DOID:0050454 ! periventricular nodular heterotopia [Term] id: DOID:9002206 name: Double Nail for Fifth Toe alt_id: MIM:126500 synonym: "petaloid toenail" EXACT [] xref: EFO:0007879 xref: MESH:C565090 is_a: DOID:4123 ! nail disease is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9002207 name: Renal Aminoacidurias def: "A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved." [MESH:D000608] synonym: "AMINOACIDURIA" EXACT [] synonym: "Renal Aminoaciduria" EXACT [] xref: EFO:1001149 xref: MESH:D000608 is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:9002208 name: Familial Hyperbeta- and Prebetalipoproteinemia xref: MESH:C566262 xref: RDO:0014664 is_a: DOID:9005519 ! Hyperlipoproteinemia Type II [Term] id: DOID:9002209 name: Skull Fractures def: "Fractures of the skull which may result from penetrating or nonpenetrating head injuries or rarely BONE DISEASES (see also FRACTURES, SPONTANEOUS). Skull fractures may be classified by location (e.g., SKULL FRACTURE, BASILAR), radiographic appearance (e.g., linear), or based upon cranial integrity (e.g., SKULL FRACTURE, DEPRESSED)." [MESH:D012887] synonym: "Linear Skull Fracture" EXACT [] synonym: "Linear Skull Fractures" EXACT [] synonym: "Non Depressed Skull Fracture" EXACT [] synonym: "Non-Depressed Skull Fractures" EXACT [] synonym: "Skull Fracture" EXACT [] xref: EFO:1001425 xref: MESH:D012887 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9007621 ! Craniocerebral Trauma [Term] id: DOID:9002210 name: Granulosa Cell Tumor of the Ovary synonym: "adult granulosa cell tumor of the ovary" EXACT [] synonym: "GCT of the ovary" EXACT [] synonym: "Granulosa theca cell tumor" EXACT [] synonym: "granulosa theca cell tumor of the ovary" EXACT [] xref: EFO:0006461 xref: MESH:C537296 xref: ORDO:99915 is_a: DOID:2999 ! granulosa cell tumor [Term] id: DOID:9002211 name: Hyperalgesia def: "An increased sensation of pain or discomfort produced by mimimally noxious stimuli due to damage to soft tissue containing NOCICEPTORS or injury to a peripheral nerve." [MESH:D006930] synonym: "Allodynia" EXACT [] synonym: "Allodynias, Tactile" EXACT [] synonym: "Allodynias, Thermal" EXACT [] synonym: "Hyperalgesia, Primary" EXACT [] synonym: "Hyperalgesias" EXACT [] synonym: "Hyperalgesia, Secondary" EXACT [] synonym: "Hyperalgesias, Mechanical" EXACT [] synonym: "Hyperalgesias, Primary" EXACT [] synonym: "Hyperalgesias, Secondary" EXACT [] synonym: "Hyperalgesias, Tactile" EXACT [] synonym: "Hyperalgesias, Thermal" EXACT [] synonym: "Hyperalgesic Sensations" EXACT [] synonym: "Mechanical Allodynia" EXACT [] synonym: "Mechanical Allodynias" EXACT [] synonym: "Mechanical Hyperalgesia" EXACT [] synonym: "pain hypersensitivity" EXACT [] synonym: "Tactile Allodynia" EXACT [] synonym: "Tactile Hyperalgesia" EXACT [] synonym: "Thermal Allodynia" EXACT [] synonym: "Thermal Hyperalgesia" EXACT [] xref: MESH:D006930 is_a: DOID:9000641 ! Pain is_a: DOID:9008625 ! Somatosensory Disorders [Term] id: DOID:9002212 name: PICA Syndrome synonym: "vertebral artery syndrome" EXACT [] xref: MESH:C538664 is_a: DOID:3522 ! lateral medullary syndrome [Term] id: DOID:9002213 name: Lymphatic Abnormalities def: "Congenital or acquired structural abnormalities of the lymphatic system (LYMPHOID TISSUE) including the lymph vessels." [MESH:D044148] synonym: "Lymphatic Abnormality" EXACT [] xref: MESH:D044148 is_a: DOID:75 ! lymphatic system disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9002214 name: Absent Duct of Santorini synonym: "absent accessory pancreatic duct of Santorini" EXACT [] xref: MESH:C535567 is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:9002215 name: Baetz-Greenwalt Syndrome synonym: "Hypoplastic right-sided heart complex" EXACT [] xref: MESH:C537795 is_a: DOID:10907 ! microcephaly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:9002216 name: Central Nervous System Protozoal Infections def: "Infections of the brain, spinal cord, or meninges by single celled organisms of the former subkingdom known as protozoa. The central nervous system may be the primary or secondary site of protozoal infection. These diseases may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts." [MESH:D020808] synonym: "Amebic Meningoencephalitides" EXACT [] synonym: "Amebic Meningoencephalitis" EXACT [] synonym: "Cerebral Protozoal Infection" EXACT [] synonym: "Cerebral Protozoal Infections" EXACT [] synonym: "Infection, Central Nervous System, Protozoal" EXACT [] synonym: "Protozoal Meningoencephalitides" EXACT [] synonym: "Protozoal Meningoencephalitis" EXACT [] xref: MESH:D020808 xref: RDO:0000264 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9004805 ! Central Nervous System Parasitic Infections [Term] id: DOID:9002217 name: Dermal Ridges, Nelson Syndrome alt_id: MIM:125530 xref: MESH:C565110 is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9002219 name: Choroid Plexus Calcification with Mental Retardation alt_id: MIM:215480 synonym: "choroido-cerebral calcification syndrome with retardation" EXACT [] synonym: "choroid plexus calcification and mental retardation" EXACT [] xref: MESH:C535357 is_a: DOID:1059 ! intellectual disability is_a: DOID:182 ! calcinosis [Term] id: DOID:9002220 name: Forney Robinson Pascoe Syndrome synonym: "Congenital heart disease, deafness, and skeletal malformations" EXACT [] xref: MESH:C537269 is_a: DOID:11502 ! mitral valve insufficiency is_a: DOID:225 ! syndrome is_a: DOID:4254 ! osteosclerosis is_a: DOID:9006380 ! Bilateral Hearing Loss is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002221 name: Hyperplasia def: "An increase in the number of cells in a tissue or organ without tumor formation. It differs from HYPERTROPHY, which is an increase in bulk without an increase in the number of cells." [MESH:D006965] synonym: "Columnar Cell Hyperplasia of the Breast" NARROW [] synonym: "Flat Urothelial Hyperplasia" NARROW [] synonym: "Hyperplasias" EXACT [] xref: EFO:0000536 xref: EFO:1000199 xref: EFO:1000259 xref: MESH:D006965 xref: NCI:C3113 xref: RDO:0001143 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9002222 name: Acrodysplasia Scoliosis alt_id: RDO:0004123 xref: MESH:C538180 is_a: DOID:0060249 ! scoliosis is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9002223 name: Diffuse Palmoplantar Keratoderma def: "An autosomal dominant disorder characterized by a widely distributed, well-demarcated hyperkeratosis of the palms and soles. There is more than one genotypically distinct form, each of which is clinically similar but histologically distinguishable. Diffuse palmoplantar keratoderma is distinct from palmoplantar keratoderma (KERATODERMA, PALMOPLANTAR), as the former exhibits autosomal dominant inheritance and hyperhidrosis is frequently present." [MESH:D015776] synonym: "Diffuse keratosis palmoplantaris" EXACT [] synonym: "Diffuse palmoplantar hyperkeratosis" EXACT [] synonym: "Diffuse PPK" EXACT [] synonym: "Keratosis Palmaris et Plantaris Familiaris" EXACT [] synonym: "Thost Unna Syndrome" EXACT [] synonym: "Tylosis" EXACT [] xref: MESH:D015776 xref: MONDO:0017666 xref: ORDO:307141 is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:9002224 name: Rotator Cuff Injuries def: "Injuries to the ROTATOR CUFF of the shoulder joint." [MESH:D000070636] synonym: "Glenoid Labral Tear" EXACT [] synonym: "Glenoid Labral Tears" EXACT [] synonym: "Rotator Cuff Injury" EXACT [] synonym: "Rotator Cuff Tear" EXACT [] synonym: "Rotator Cuff Tears" EXACT [] synonym: "Rotator Cuff Tendinitides" EXACT [] synonym: "Rotator Cuff Tendinitis" EXACT [] synonym: "Rotator Cuff Tendinoses" EXACT [] synonym: "Rotator Cuff Tendinosis" EXACT [] xref: EFO:1001250 xref: MESH:D000070636 is_a: DOID:9004155 ! Shoulder Injuries is_a: DOID:9005630 ! Rupture is_a: DOID:9008331 ! Tendon Injuries [Term] id: DOID:9002225 name: Congenital Dyserythropoietic Anemia Type IIIb synonym: "CDAN3B" EXACT [] synonym: "CDA type IIIb" EXACT [] synonym: "congenital dyserythropoietic anemia type IIIb, autosomal recessive" EXACT [] xref: MIM:619789 is_a: DOID:1338 ! congenital dyserythropoietic anemia created_by: mtutaj creation_date: 2022-03-24T10:57:01Z [Term] id: DOID:9002226 name: Localized Epidermolysis Bullosa Simplex 2C def: "This is an autosomal dominant skin disorder with intraepidermal blistering after minor trauma mainly restricted to hands and feet beginning in infancy." [] synonym: "EBS2C" EXACT [] synonym: "epidermolysis bullosa simplex 2C, localized, modifier of" RELATED [] synonym: "epidermolysis bullosa simplex 2C, Weber-Cockayne type" EXACT [] xref: MIM:619594 xref: MONDO:0030527 is_a: DOID:0080510 ! epidermolysis bullosa simplex localized type created_by: mtutaj creation_date: 2021-11-03T12:21:37Z [Term] id: DOID:9002227 name: B-Cell Chronic Lymphocytic Leukemia alt_id: MIM:109543 alt_id: MIM:151400 alt_id: MIM:609630 alt_id: MIM:612557 alt_id: MIM:612558 alt_id: MIM:612559 def: "A chronic leukemia characterized by abnormal B-lymphocytes and often generalized lymphadenopathy. In patients presenting predominately with blood and bone marrow involvement it is called chronic lymphocytic leukemia (CLL); in those predominately with enlarged lymph nodes it is called small lymphocytic lymphoma. These terms represent spectrums of the same disease." [MESH:D015451] synonym: "BCLL" EXACT [] synonym: "chronic B-cell leukemia" EXACT [] synonym: "chronic B-cell leukemias" EXACT [] synonym: "Chronic B-Lymphocytic Leukemia" EXACT [] synonym: "chronic B-lymphocytic leukemias" EXACT [] synonym: "Chronic Lymphoblastic Leukemia" EXACT [] synonym: "Chronic Lymphoblastic Leukemias" EXACT [] synonym: "chronic lymphocytic leukemia, susceptibility to, 1" RELATED [] synonym: "chronic lymphocytic leukemia, susceptibility to, 2" RELATED [] synonym: "chronic lymphocytic leukemia, susceptibility to, 3" RELATED [] synonym: "chronic lymphocytic leukemia, susceptibility to, 4" RELATED [] synonym: "chronic lymphocytic leukemia, susceptibility to, 5" RELATED [] synonym: "CLL Lymphoplasmacytoid Lymphoma" EXACT [] synonym: "CLL Lymphoplasmacytoid Lymphomas" EXACT [] synonym: "CLLS1" RELATED [] synonym: "CLLS2" RELATED [] synonym: "CLLS3" RELATED [] synonym: "CLLS4" RELATED [] synonym: "CLLS5" RELATED [] synonym: "DBM" EXACT [] synonym: "Diffuse Well Differentiated Lymphocytic Lymphoma" EXACT [] synonym: "Disrupted In B-Cell Malignancy" EXACT [] synonym: "low-grade B-cell malignancy" EXACT [] synonym: "Lymphocytic Lymphoma" EXACT [] synonym: "Lymphocytic Lymphomas" EXACT [] synonym: "Lymphoma, Small Lymphocytic, Plasmacytoid" EXACT [] synonym: "Small Cell Lymphoma" EXACT [] synonym: "Small-Cell Lymphomas" EXACT [] synonym: "small lymphocytic lymphoma" EXACT [] synonym: "small lymphocytic lymphomas" EXACT [] synonym: "well-differentiated lymphocytic lymphoma" EXACT [] synonym: "well-differentiated lymphocytic lymphomas" EXACT [] xref: MESH:D015451 xref: NCI:C7540 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma is_a: DOID:1040 ! chronic lymphocytic leukemia [Term] id: DOID:9002228 name: cystic renal cell carcinoma def: "This type of tumor includes any malignant neoplasm of renal tubular epithelium which presents as a fluid-filled mass. Approximately 15 per cent of cases of renal cell carcinoma will be cystic on radiologic and pathologic examination." [EFO:0006388] synonym: "cystic renal cell carcinoma of kidney" EXACT [] xref: EFO:0006388 is_a: DOID:4450 ! renal cell carcinoma created_by: slaulede creation_date: 2022-09-19T11:41:21Z [Term] id: DOID:9002229 name: Oculodental Syndrome Rutherfurd Syndrome alt_id: MIM:180900 synonym: "corneal dystrophy with gum hypertrophy" EXACT [] synonym: "gingival hypertrophy corneal dystrophy" EXACT [] synonym: "gingival hypertrophy with corneal dystrophy" EXACT [] synonym: "Rutherfurd syndrome" EXACT [] xref: MESH:C537732 is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy is_a: DOID:5338 ! gingival hypertrophy [Term] id: DOID:9002230 name: GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY def: "An autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. GRIDHH is caused by compound heterozygous mutation in the IARS gene on chromosome 9q21. (OMIM)" [] synonym: "GRIDHH" EXACT [] synonym: "IARS1-RELATED CONDITION" EXACT [] xref: EFO:0009155 xref: MIM:617093 xref: RDO:9001591 is_a: DOID:1059 ! intellectual disability is_a: DOID:409 ! liver disease is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002231 name: Fetal Growth Retardation def: "The failure of a FETUS to attain its expected FETAL GROWTH at any GESTATIONAL AGE." [MESH:D005317] synonym: "intrauterine growth restriction" EXACT [] synonym: "Intrauterine Growth Retardation" EXACT [] synonym: "IUGR" EXACT [] xref: EFO:0000495 xref: MESH:D005317 is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002232 name: Attenuated Adenomatous Polyposis Coli alt_id: RDO:0015032 synonym: "Brain Tumor-Polyposis Syndrome 2" EXACT [] xref: MESH:C566778 is_a: DOID:9009045 ! Gardner Syndrome [Term] id: DOID:9002233 name: Al Gazali Aziz Salem Syndrome synonym: "short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease" EXACT [] synonym: "short stature, webbed neck, heart disease" EXACT [] synonym: "short stature-webbed neck-heart disease syndrome" EXACT [] xref: GARD:583 xref: MESH:C535613 xref: ORDO:2865 is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002234 name: Pituitary Neoplasms def: "Neoplasms which arise from or metastasize to the PITUITARY GLAND. The majority of pituitary neoplasms are adenomas, which are divided into non-secreting and secreting forms. Hormone producing forms are further classified by the type of hormone they secrete. Pituitary adenomas may also be characterized by their staining properties (see ADENOMA, BASOPHIL; ADENOMA, ACIDOPHIL; and ADENOMA, CHROMOPHOBE). Pituitary tumors may compress adjacent structures, including the HYPOTHALAMUS, several CRANIAL NERVES, and the OPTIC CHIASM. Chiasmal compression may result in bitemporal HEMIANOPSIA." [MESH:D010911] synonym: "neoplasm of pituitary gland" EXACT [] synonym: "pituitary gland neoplasm" EXACT [] synonym: "pituitary neoplasm" EXACT [] synonym: "Pituitary Tumor" EXACT [] synonym: "pituitary tumors" EXACT [] xref: MESH:D010911 xref: NCI:C132194 is_a: DOID:3644 ! hypothalamic neoplasm is_a: DOID:53 ! pituitary gland disease is_a: DOID:9007803 ! Endocrine Gland Neoplasms [Term] id: DOID:9002235 name: Rhabdomyolysis, Cerivastatin-Induced alt_id: MIM:618018 synonym: "altered drug metabolism, CYP2C8-related" RELATED [] xref: MESH:C563387 is_a: DOID:9000884 ! Rhabdomyolysis [Term] id: DOID:9002236 name: Infection with Mycobacterium Marinum synonym: "Fish tank granuloma" EXACT [] synonym: "Mycobacterium marinum Infection" EXACT [] xref: MESH:C535526 xref: RDO:0000688 is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections [Term] id: DOID:9002237 name: Mesomelic Dwarfism of Hypoplastic Tibia and Radius Type alt_id: MIM:156230 xref: MESH:C563589 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9002238 name: Spondylometaphyseal Dysplasia, X-Linked alt_id: MIM:313420 synonym: "SMDXL" EXACT [] synonym: "Spondylometaphyseal Dysplasia, Richmond Type" EXACT [] xref: MESH:C563124 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0112295 ! spondylometaphyseal dysplasia [Term] id: DOID:9002239 name: Estrogen Resistance synonym: "ESTROGEN INSENSITIVITY" EXACT [] synonym: "Estrogen resistance syndrome" EXACT [] synonym: "ESTRR" EXACT [] xref: EFO:0009042 xref: MIM:615363 xref: RDO:9000919 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:9002241 name: Omphalocele Exstrophy Imperforate Anus synonym: "OEIS complex" EXACT [] synonym: "Omphalocele-Exstrophy-Imperforate Anus-Spinal Defects" EXACT [] synonym: "Omphalocele, exstrophy of the cloaca, imperforate anus, and spinal defects" EXACT [] xref: MESH:C537748 xref: RDO:0003641 is_a: DOID:0060249 ! scoliosis is_a: DOID:0060321 ! umbilical hernia is_a: DOID:10488 ! imperforate anus is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9002242 name: Distal Arthrogryposis Type 11 def: "An autosomal dominant disorder characterized mainly by camptodactyly. Caused by heterozygous mutation in the MET gene on chromosome 7q31." [MIM:620019] synonym: "DA11" EXACT [] xref: MIM:620019 is_a: DOID:0050646 ! distal arthrogryposis created_by: mtutaj creation_date: 2022-08-26T13:27:14Z [Term] id: DOID:9002243 name: Leg, Absence Deformity of, with Congenital Cataract alt_id: MIM:246000 xref: MESH:C565442 xref: RDO:0014078 is_a: DOID:83 ! cataract [Term] id: DOID:9002244 name: Feingold Trainer Syndrome synonym: "Unusual facies, cleft palate, short stature, and mental retardation" EXACT [] xref: MESH:C536179 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002245 name: Intestinal Neoplasms def: "Tumors or cancer of the INTESTINES." [MESH:D007414] synonym: "Cancer of Intestines" EXACT [] synonym: "Cancer of the Intestines" EXACT [] synonym: "Intestinal Neoplasm" EXACT [] synonym: "Intestines Neoplasm" EXACT [] synonym: "Intestines Neoplasms" EXACT [] xref: MESH:D007414 is_a: DOID:5295 ! intestinal disease is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:9002246 name: Chromosome 17, Deletion 17q23 q24 synonym: "Deletion 17q23 q24" EXACT [] synonym: "Monosomy 17q23 q24" EXACT [] xref: MESH:C538047 xref: RDO:0003981 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9002247 name: Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly alt_id: MIM:611733 synonym: "Dauwerse Peters Syndrome" EXACT [] xref: MESH:C567093 is_a: DOID:0050581 ! brachydactyly is_a: DOID:11193 ! syndactyly is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002248 name: RETINAL DYSTROPHY WITH OR WITHOUT EXTRAOCULAR ANOMALIES synonym: "RDEOA" EXACT [] synonym: "RETINAL DYSTROPHY WITH EXTRAOCULAR ANOMALIES" NARROW [] xref: MIM:617175 xref: NCI:C164155 xref: RDO:9001303 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:9002249 name: Coronary-Subclavian Steal Syndrome def: "A complication of INTERNAL MAMMARY-CORONARY ARTERY ANASTOMOSIS whereby an occlusion or stenosis of the proximal SUBCLAVIAN ARTERY causes a reversal of the blood flow away from the CORONARY CIRCULATION, through the grafted INTERNAL MAMMARY ARTERY (internal thoracic artery), and back to the distal subclavian distribution." [MESH:D058686] synonym: "Syndromes, Coronary-Subclavian Steal" EXACT [] xref: EFO:1001297 xref: MESH:D058686 xref: RDO:0007847 is_a: DOID:225 ! syndrome is_a: DOID:9000528 ! Coronary Disease is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9002250 name: Chromosome 11p, Partial Deletion synonym: "Deletion 11p 11p12" EXACT [] synonym: "Deletion 11p13" EXACT [] synonym: "Monosomy 11 p11 p12" EXACT [] synonym: "Partial deletion 11p" EXACT [] xref: MESH:C538295 xref: RDO:0004257 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9002251 name: Prenatal Cortical Hyperostosis, Lethal xref: MESH:C566184 xref: RDO:0014619 is_a: DOID:4257 ! Caffey disease [Term] id: DOID:9002252 name: Scapulohumeroperoneal Myopathy def: "An autosomal dominant muscle disorder characterized by slowly progressive muscle weakness and atrophy affecting both proximal and distal muscles of the upper and lower limbs. (OMIM)" [] synonym: "SHPM" EXACT [] xref: MIM:616852 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9002253 name: Rambaud Galian Syndrome xref: MESH:C535283 is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:326 ! ischemia is_a: DOID:5679 ! retinal disease is_a: DOID:9000613 ! Hyaline Membrane Disease is_a: DOID:936 ! brain disease [Term] id: DOID:9002254 name: Dilatation, Pathologic def: "The condition of an anatomical structure's being dilated beyond normal dimensions." [MESH:D004108] synonym: "Ectasia" EXACT [] synonym: "Pathological Dilatation" EXACT [] synonym: "Pathological Dilatations" EXACT [] synonym: "Pathologic Dilatations" EXACT [] xref: MESH:D004108 xref: RDO:0005369 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9002255 name: Acanthosis Nigricans Muscle Cramps Acral Enlargement alt_id: MIM:200170 alt_id: RDO:0001402 synonym: "Acanthosis Nigricans With Muscle Cramps And Acral Enlargement" EXACT [] xref: MESH:C536000 is_a: DOID:3138 ! acanthosis nigricans is_a: DOID:9000373 ! Muscle Cramp is_a: DOID:9004507 ! Hirsutism [Term] id: DOID:9002256 name: Furunculous Myiasis synonym: "Furuncular myiasis" EXACT [] xref: MESH:C538194 is_a: DOID:11080 ! myiasis [Term] id: DOID:9002257 name: Shprintzen Omphalocele Syndrome alt_id: MIM:182210 synonym: "Laryngeal and pharyngeal hypoplasia with omphalocele" EXACT [] synonym: "OMPHALOCELE WITH HYPOPLASIA OF PHARYNX AND LARYNX, LEARNING DISABILITY, DYSMORPHIC FACIES, AND SCOLIOSIS" EXACT [] synonym: "Pharynx and larynx hypoplasia with omphalocele" EXACT [] synonym: "Shprintzen-Goldberg omphalocele syndrome" EXACT [] xref: MESH:C537329 is_a: DOID:0060249 ! scoliosis is_a: DOID:0060321 ! umbilical hernia is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002258 name: Glucose-6-Phosphate Translocase Deficiency xref: MESH:C536831 is_a: DOID:0081329 ! glycogen storage disease I [Term] id: DOID:9002259 name: mitral annular calcification def: "This is degenerative calcification of the mitral valve ring, often used as a marker of severe coronary artery disease." [EFO:0005262] synonym: "MAC" EXACT [] xref: EFO:0005262 is_a: DOID:61 ! mitral valve disease created_by: slaulede creation_date: 2023-02-24T15:51:10Z [Term] id: DOID:9002260 name: testicular dysgenesis syndrome def: "This is a syndrome comprising testicular germ cell cancer, cryptorchidism and some cases of hypospadias and male infertility with impaired development of the testis." [EFO:0004893] synonym: "TDS" EXACT [] xref: EFO:0004893 is_a: DOID:14447 ! gonadal dysgenesis created_by: slaulede creation_date: 2023-02-16T10:10:43Z [Term] id: DOID:9002261 name: Permanent Neonatal Diabetes Mellitus 1 synonym: "PNDM1" EXACT [] xref: MIM:606176 is_a: DOID:0060639 ! permanent neonatal diabetes mellitus created_by: mtutaj creation_date: 2020-05-01T10:38:22Z [Term] id: DOID:9002262 name: Orbital Neoplasms def: "Neoplasms of the bony orbit and contents except the eyeball." [MESH:D009918] synonym: "Orbital Neoplasm" EXACT [] xref: MESH:D009918 is_a: DOID:9001331 ! Skull Neoplasms is_a: DOID:9004059 ! Eye Neoplasms is_a: DOID:930 ! orbital disease [Term] id: DOID:9002263 name: Cornea Plana 2 alt_id: MIM:217300 synonym: "CNA2" EXACT [] synonym: "CORNEA PLANA 2, AUTOSOMAL RECESSIVE" EXACT [] xref: MESH:C565677 is_a: DOID:0060287 ! cornea plana is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9002264 name: Acute Zonal Occult Outer Retinopathy xref: MESH:C538223 xref: RDO:0004172 is_a: DOID:9335 ! scotoma [Term] id: DOID:9002265 name: Kidney Neoplasms alt_id: RDO:0002884 def: "Tumors or cancers of the KIDNEY." [MESH:D007680] synonym: "Kidney Neoplasm" EXACT [] synonym: "Mixed Epithelial Stromal Tumor of the Kidney" NARROW [] synonym: "renal neoplasm" EXACT [] synonym: "renal neoplasms" EXACT [] xref: EFO:0003865 xref: EFO:1000381 xref: MESH:D007680 is_a: DOID:557 ! kidney disease is_a: DOID:9004643 ! Urologic Neoplasms [Term] id: DOID:9002266 name: Minicore Myopathy, Antenatal Onset, with Arthrogryposis synonym: "Multicore myopathy, antenatal onset, with arthrogryposis" EXACT [] synonym: "Multiminicore myopathy, antenatal onset, with arthrogryposis" EXACT [] xref: MESH:C537474 xref: RDO:0003320 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:9002267 name: Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies synonym: "NEDBAF" EXACT [] xref: EFO:0010563 xref: MIM:618577 xref: MONDO:0032820 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2019-10-10T17:50:00Z [Term] id: DOID:9002268 name: Hand and Foot Deformity with Flat Facies alt_id: MIM:139750 xref: MESH:C535626 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9002269 name: Mthfr Deficiency, Thermolabile Type xref: MESH:C565512 xref: RDO:0014126 is_a: DOID:9263 ! homocystinuria [Term] id: DOID:9002270 name: Kocher-Debre-Semelaigne Syndrome synonym: "Kocher Debre Semelaigne disease" EXACT [] xref: MESH:C537211 xref: RDO:0003001 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:0080000 ! muscular disease is_a: DOID:225 ! syndrome is_a: DOID:9000040 ! Hypertrophy [Term] id: DOID:9002271 name: Dourine def: "A disease of horses and donkeys caused by Trypanosoma equiperdum. The disease occurs in Africa, the Americas, and Asia." [MESH:D004313] synonym: "Dourines" EXACT [] xref: EFO:0007240 xref: MESH:D004313 is_a: DOID:10113 ! trypanosomiasis is_a: DOID:9004157 ! Protozoan Infections, Animal [Term] id: DOID:9002272 name: Small Fiber Neuropathy def: "Disorder of the peripheral nerves that primarily impair small nerve fibers. The affected small nerve fibers include myelinated A-delta fibers (see A FIBERS) and unmyelinated C FIBERS. Because these small fibers innervate skin and help control autonomic function, their neuropathy presents with neuropathic pain, reduced thermal and pain sensitivity, and autonomic dysfunction (e.g. abnormal sweating or facial flushing). Small fiber neuropathy can be idiopathic or associated with underlying diseases (e.g., AMYLOIDOSIS; DIABETES MELLITUS; SARCOIDOSIS; or VASCULITIS)." [MESH:D000071075] synonym: "small fiber neuropathies" EXACT [] synonym: "Small Fibre Neuropathies" EXACT [] synonym: "Small Fibre Neuropathy" EXACT [] synonym: "small nerve fiber neuropathy" EXACT [] xref: MESH:D000071075 xref: NCI:C125389 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:9002273 name: Open Bite def: "A condition in which certain opposing teeth fail to establish occlusal contact when the jaws are closed." [MESH:D024343] synonym: "Apertognathia" EXACT [] synonym: "Nonocclusion" EXACT [] synonym: "Openbite" EXACT [] xref: MESH:D024343 is_a: DOID:9000121 ! Malocclusion [Term] id: DOID:9002274 name: Renal Colic def: "A severe intermittent and spasmodic pain in the lower back radiating to the groin, scrotum, and labia which is most commonly caused by a kidney stone (RENAL CALCULUS) passing through the URETER or by other urinary track blockage. It is often associated with nausea, vomiting, fever, restlessness, dull pain, frequent urination, and HEMATURIA." [MESH:D056844] synonym: "Acute Renal Colic" EXACT [] synonym: "Acute Renal Colics" EXACT [] synonym: "Renal Colics" EXACT [] synonym: "Ureteral Colic" EXACT [] synonym: "Ureteral Colics" EXACT [] xref: EFO:1001412 xref: MESH:D056844 is_a: DOID:9000071 ! Signs and Symptoms is_a: DOID:9000641 ! Pain [Term] id: DOID:9002276 name: Uridine-Cytidineuria synonym: "URCTU" EXACT [] xref: MIM:618477 xref: MONDO:0032773 is_a: DOID:655 ! inherited metabolic disorder created_by: mtutaj creation_date: 2019-06-25T13:59:52Z [Term] id: DOID:9002277 name: Dandy-Walker Malformation with Postaxial Polydactyly alt_id: MIM:220220 synonym: "Dandy Walker Malformation Postaxial Polydactyly" EXACT [] synonym: "DWM with Postaxial Polydactyly" EXACT [] synonym: "Pierquin syndrome" EXACT [] xref: MESH:C535771 is_a: DOID:2785 ! Dandy-Walker syndrome is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9002278 name: Metabolic Bone Diseases alt_id: RDO:0001042 def: "Diseases that affect the METABOLIC PROCESSES of BONE TISSUE." [MESH:D001851] synonym: "Metabolic Bone Disease" EXACT [] synonym: "osteopenia" EXACT [] synonym: "osteopenias" EXACT [] xref: MESH:D001851 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:0080001 ! bone disease [Term] id: DOID:9002279 name: Permanent Neonatal Diabetes Mellitus 3 synonym: "DEND2" NARROW [] synonym: "DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 2" NARROW [] synonym: "diabetes mellitus, permanent neonatal 3, with or without neurologic features" EXACT [] synonym: "PNDM3" EXACT [] xref: MIM:618857 is_a: DOID:0060639 ! permanent neonatal diabetes mellitus created_by: mtutaj creation_date: 2020-05-01T09:56:33Z [Term] id: DOID:9002280 name: Retinal Arterial Macroaneurysm def: "An acquired dilation of the retinal artery often associated with systemic HYPERTENSION." [MESH:D000080346] synonym: "Retinal Arteriolar Macroaneurysm" NARROW [] synonym: "Retinal Macroaneurysm" EXACT [] synonym: "Ruptured Retinal Arterial Macroaneurysm" RELATED [] xref: MESH:D000080346 is_a: DOID:2462 ! retinal vascular disease is_a: DOID:9001665 ! Aneurysm created_by: slaulede creation_date: 2020-02-07T12:37:50Z [Term] id: DOID:9002282 name: Monocyte Esterase Deficiency alt_id: MIM:618057 synonym: "altered drug metabolism, CES1-related" EXACT [] synonym: "carboxylesterase 1 deficiency" EXACT [] synonym: "monocyte carboxylesterase deficiency" EXACT [] xref: MESH:C566173 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9002283 name: Experimental Allergic Asthma def: "Allergic asthma that is induced in experimental animals." [] is_a: DOID:9006205 ! Animal Disease Models is_a: DOID:9415 ! allergic asthma created_by: rgd creation_date: 2016-08-22T00:00:00Z [Term] id: DOID:9002284 name: Chromosome 16, Uniparental Disomy synonym: "Uniparental disomy of 16" EXACT [] xref: MESH:C538043 xref: RDO:0003977 is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9002285 name: Sagittal Craniosynostosis with Dandy-Walker Malformation and Hydrocephalus alt_id: RDO:0002479 synonym: "Sagittal craniosynostosis, Dandy-Walker malformation, and hydrocephalus" EXACT [] xref: MESH:C536790 is_a: DOID:2340 ! craniosynostosis is_a: DOID:2785 ! Dandy-Walker syndrome [Term] id: DOID:9002287 name: Respiratory Tract Granuloma alt_id: RDO:0005699 def: "Granulomatous disorders affecting one or more sites in the respiratory tract." [MESH:D015769] synonym: "Respiratory Tract Granulomas" EXACT [] xref: MESH:D015769 is_a: DOID:1579 ! respiratory system disease is_a: DOID:9002019 ! Granuloma [Term] id: DOID:9002288 name: Hoxha-Aliu syndrome def: "This disease is characterized by mildly impaired intellectual development and digital anomalies of the hands and feet." [MIM:620662] synonym: "ERI1-ASSOCIATED DISORDER" BROAD [] synonym: "HXAL" EXACT [] xref: MIM:620662 is_a: DOID:1059 ! intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulederkind creation_date: 2024-02-29T10:50:54Z [Term] id: DOID:9002289 name: Retinitis Pigmentosa 96 def: "A disease characterized by difficulty with night vision and progressive visual field constriction beginning as early as the third decade of life, but most patients retain good visual acuity into the seventh decade. Caused by heterozygous mutation in the SAG gene on chromosome 2q37." [] synonym: "RP96" EXACT [] xref: MIM:620228 is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2023-02-02T09:29:13Z [Term] id: DOID:9002290 name: Cadaver def: "A dead body, usually a human body." [MESH:D002102] synonym: "Cadavers" EXACT [] synonym: "Corpse" EXACT [] synonym: "Corpses" EXACT [] xref: MESH:D002102 is_a: DOID:9000543 ! Death [Term] id: DOID:9002291 name: Hereditary Angioedema 6 def: "An autosomal dominant disorder characterized by onset of episodic subcutaneous and submucosal swelling in adulthood. Caused by heterozygous mutation in the KNG1 gene on chromosome 3q27. (OMIM)" [] synonym: "HAE6" EXACT [] xref: MIM:619363 is_a: DOID:14735 ! hereditary angioedema created_by: mtutaj creation_date: 2021-06-11T11:59:20Z [Term] id: DOID:9002294 name: Bilateral Amastia with Ureteral Triplication and Dysmorphism alt_id: MIM:104350 xref: MESH:C566295 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002295 name: Poor Drug Metabolism, CYP2D6-Related alt_id: MIM:608902 synonym: "CODEINE, ULTRARAPID METABOLISM OF" NARROW [] synonym: "DEBRISOQUINE, POOR METABOLISM OF" NARROW [] synonym: "DEBRISOQUINE, ULTRARAPID METABOLISM OF" NARROW [] synonym: "DRUG METABOLISM, ULTRARAPID, CYP2D6-RELATED" NARROW [] synonym: "NORTRIPTYLINE, POOR METABOLISM OF" NARROW [] synonym: "poor metabolism of sparteine" NARROW [] xref: EFO:0009161 xref: MESH:C563835 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9002296 name: Acquired Hypoprothrombinemia xref: MESH:C538174 is_a: DOID:2235 ! prothrombin deficiency [Term] id: DOID:9002297 name: OCULOMOTOR-ABDUCENS SYNKINESIS def: "This disease is an autosomal recessive disorder characterized by a specific anomaly of extraocular muscle movements involving the oculomotor nerve (cranial nerve III) and the abducens nerve (cranial nerve VI). Affected individuals show ptosis as well as elevation of the eyelid on ipsilateral abduction. The features indicate abnormal innervation of extraocular muscles and suggest synkinesis of the oculomotor and abducens nerves." [MIM:619215] synonym: "OCABSN" EXACT [] xref: MIM:619215 is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles is_a: DOID:5656 ! cranial nerve disease created_by: slaulede creation_date: 2021-04-13T14:14:56Z [Term] id: DOID:9002298 name: Hypertension, Early-Onset, Autosomal Dominant, with Severe Exacerbation in Pregnancy alt_id: MIM:605115 synonym: "HYPERTENSION, EARLY-ONSET, AUTOSOMAL DOMINANT, WITH EXACERBATION IN PREGNANCY" EXACT [] xref: MESH:C565359 xref: RDO:0014015 is_a: DOID:10763 ! hypertension [Term] id: DOID:9002300 name: Hypoglobulinemia and Absent B Cells xref: MESH:C565765 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:620 ! blood protein disease [Term] id: DOID:9002301 name: Childhood-onset Neurodegeneration with Hypotonia, Respiratory Insufficiency and Brain Imaging Abnormalities def: "A disease characterized by severe global developmental delay apparent in infancy or early childhood. Affected individuals have hypotonia with impaired motor development, respiratory insufficiency, and feeding difficulties requiring intervention. Caused by heterozygous mutation in the CLCN6 gene on chromosome 1p36." [MIM:619173] synonym: "Ceroid lipofuscinosis, neuronal, 15" EXACT [] synonym: "CLCN6-RELATED CONDITION" EXACT [] synonym: "CLN15" EXACT [] synonym: "CONRIBA" EXACT [] xref: MIM:619173 xref: MONDO:0030947 is_a: DOID:11162 ! respiratory failure is_a: DOID:14503 ! neuronal ceroid lipofuscinosis is_a: DOID:8670 ! eating disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2022-11-14T15:22:21Z [Term] id: DOID:9002302 name: Generalized Severe Epidermolysis Bullosa Simplex 1A synonym: "EBS1A" EXACT [] synonym: "epidermolysis bullosa simplex 1A, Dowling-Meara type" EXACT [] xref: MIM:131760 is_a: DOID:0060735 ! epidermolysis bullosa simplex Dowling-Meara type created_by: mtutaj creation_date: 2021-11-03T11:55:03Z [Term] id: DOID:9002303 name: Polyglucosan Body Myopathy 2 def: "This disease is is an autosomal recessive disorder characterized by proximal muscle weakness of the lower limbs resulting in gait disturbances. The disorder is slowly progressive. Muscle biopsy shows accumulation of polyglucosan, which contains abnormally long and poorly branched glucosyl chains and is variably resistant to digestion by alpha-amylase." [MIM:616199] synonym: "PGBM2" EXACT [] synonym: "POLYGLUCOSAN BODY MYOPATHY TYPE 2" EXACT [] xref: MIM:616199 is_a: DOID:2747 ! glycogen storage disease is_a: DOID:9005532 ! Muscle Weakness created_by: rgd creation_date: 2017-02-06T00:00:00Z [Term] id: DOID:9002304 name: Prostatic Neoplasms def: "Tumors or cancer of the PROSTATE." [MESH:D011471] synonym: "prostate neoplasm" EXACT [] synonym: "prostate neoplasms" EXACT [] synonym: "prostatic neoplasm" EXACT [] xref: MESH:D011471 is_a: DOID:47 ! prostate disease is_a: DOID:9003125 ! Male Genital Neoplasms [Term] id: DOID:9002305 name: War-Related Injuries def: "WOUNDS and INJURIES and PSYCHOLOGICAL TRAUMA sustained during WAR." [MESH:D000067398] synonym: "War-Related Injury" EXACT [] synonym: "War Related Trauma" EXACT [] xref: MESH:D000067398 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9002306 name: Aggressive Periodontitis, 2 alt_id: MIM:608526 xref: MESH:C566946 is_a: DOID:824 ! periodontitis [Term] id: DOID:9002307 name: Mandibulofacial Dysostosis Syndrome, Bauru Type alt_id: MIM:604830 xref: MESH:C565744 is_a: DOID:1934 ! dysostosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9002309 name: Nonodontogenic Cysts def: "Cysts formed from epithelial inclusions in the lines of fusion of the embryonic processes which form the jaws. They include nasopalatine or incisive canal cyst, incisive papilla cyst, globulomaxillary cyst, median palatal cyst, median alveolar cyst, median mandibular cyst, and nasoalveolar cyst." [MESH:D009631] synonym: "Nonodontogenic Cyst" EXACT [] xref: MESH:D009631 xref: RDO:0006223 is_a: DOID:9004816 ! Jaw Cysts [Term] id: DOID:9002310 name: Split-Hand/Foot Malformation with Long Bone Deficiency 3 alt_id: MIM:612576 alt_id: RDO:0015373 synonym: "CHROMOSOME 17p13.3, TELOMERIC, DUPLICATION SYNDROME" EXACT [] synonym: "SHFLD3" EXACT [] xref: MESH:C567245 is_a: DOID:0090020 ! split hand-foot malformation is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9002311 name: Experimental Autoimmune Myocarditis def: "Experimental autoimmune myocarditis is a model of inflammatory heart disease and subsequent dilated cardiomyopathy (DCM). Inoculation with purified cardiac myosin combined with FREUND'S ADJUVANT triggers the disease in rats and mice." [PMID:11274001, PMID:15546794] synonym: "EAM" EXACT [] is_a: DOID:0080767 ! autoimmune myocarditis is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9002312 name: Atrial Remodeling def: "Long-term changes in the electrophysiological parameters and/or anatomical structures of the HEART ATRIA that result from prolonged changes in atrial rate, often associated with ATRIAL FIBRILLATION or long periods of intense EXERCISE." [MESH:D064752] synonym: "Atrial Cardiac Remodeling" EXACT [] synonym: "Atrial Myocardial Remodeling" EXACT [] synonym: "Atrium Remodeling" EXACT [] synonym: "Electrical Remodeling" EXACT [] xref: MESH:D064752 is_a: DOID:9004611 ! Pathologic Processes is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9002313 name: Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions 6 def: "A disease characterized by ptosis and ophthalmoplegia as well as other clinical manifestations and multiple mtDNA deletions in muscle. Caused by homozygous mutation in the RRM1 gene on chromosome 11p15." [MIM:620647] synonym: "PEOB6" EXACT [] synonym: "RRM1-RELATED DISORDER" EXACT [] xref: MIM:620647 is_a: DOID:9005815 ! Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive created_by: tutajm creation_date: 2023-12-18T11:05:44Z [Term] id: DOID:9002314 name: Acute Traumatic Coagulopathy def: "A disorder characterized by procoagulant substances entering the general circulation causing a systemic thrombotic process. The activation of the clotting mechanism arises from physical trauma." [] synonym: "ACOTS" EXACT [] synonym: "acute coagulopathy of trauma-shock" EXACT [] synonym: "ATC" EXACT [] synonym: "Coagulopathy of trauma" EXACT [] synonym: "COT" EXACT [] synonym: "trauma-induced coagulopathy" EXACT [] xref: RDO:9001269 is_a: DOID:11247 ! disseminated intravascular coagulation created_by: rgd creation_date: 2016-10-14T00:00:00Z [Term] id: DOID:9002315 name: Kidney Calculi def: "Stones in the KIDNEY, usually formed in the urine-collecting area of the kidney (KIDNEY PELVIS). Their sizes vary and most contains CALCIUM OXALATE." [MESH:D007669] synonym: "kidney calculus" EXACT [] synonym: "Kidney Stone" EXACT [] synonym: "Kidney Stones" EXACT [] synonym: "Nephrolith" EXACT [] synonym: "Renal Calculi" EXACT [] synonym: "renal calculus" EXACT [] xref: MESH:D007669 is_a: DOID:0080652 ! calcium oxalate nephrolithiasis is_a: DOID:9003311 ! Urinary Calculi [Term] id: DOID:9002316 name: Myoclonus, Cerebellar Ataxia, and Deafness alt_id: MIM:159800 xref: MESH:C563549 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:9007722 ! Myoclonus is_a: DOID:9008681 ! Deafness [Term] id: DOID:9002317 name: Anthophobia synonym: "Botanophobia" EXACT [] synonym: "Fear of flowers" EXACT [] synonym: "Fear of plants" EXACT [] xref: MESH:C000719190 is_a: DOID:599 ! specific phobia created_by: mtutaj creation_date: 2022-12-12T12:44:44Z [Term] id: DOID:9002319 name: Glanzmann Thrombasthenia 1 def: "An autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Caused by homozygous or compound heterozygous mutation in the gene encoding platelet glycoprotein alpha-IIb (ITGA2B) on chromosome 17q21.31." [MIM:273800] synonym: "BDPLT2" EXACT [] xref: MIM:273800 is_a: DOID:2219 ! Glanzmann's thrombasthenia created_by: mtutaj creation_date: 2022-04-25T13:34:23Z [Term] id: DOID:9002320 name: Neurobehavioral Manifestations def: "Signs and symptoms of higher cortical dysfunction caused by organic conditions. These include certain behavioral alterations and impairments of skills involved in the acquisition, processing, and utilization of knowledge or information." [MESH:D019954] synonym: "Cognitive Manifestation" EXACT [] synonym: "Cognitive Manifestations" EXACT [] synonym: "Cognitive Symptom" EXACT [] synonym: "Cognitive Symptoms" EXACT [] synonym: "Neurobehavioral Manifestation" EXACT [] synonym: "Neurobehavioral Signs and Symptoms" EXACT [] xref: EFO:0004364 xref: MESH:D019954 is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9002321 name: Teratozoospermia def: "Presence of spermatozoa with abnormal morphology over 85 % in sperm." [] synonym: "abnormal spermatozoa" EXACT [] synonym: "abnormal spermatozoas" EXACT [] synonym: "teratospermia" EXACT [] synonym: "teratospermias" EXACT [] synonym: "teratozoospermias" EXACT [] xref: EFO:0002625 xref: MESH:D000072660 is_a: DOID:12336 ! male infertility [Term] id: DOID:9002322 name: Shy-Drager Syndrome def: "A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)" [MESH:D012791] synonym: "dysautonomia-orthostatic hypotension syndrome" EXACT [] synonym: "dysautonomia-orthostatic hypotension syndromes" EXACT [] synonym: "Dysautonomic Orthostatic Hypotension" EXACT [] synonym: "Idiopathic Orthostatic Hypotension, Shy Drager Type" EXACT [] synonym: "progressive autonomic failure" EXACT [] synonym: "progressive autonomic failures" EXACT [] xref: MESH:D012791 is_a: DOID:4752 ! multiple system atrophy is_a: DOID:9006024 ! Hypotension [Term] id: DOID:9002323 name: Schaap Taylor Baraitser Syndrome synonym: "Cataracts, sensorineural deafness, hypogonadism, hypertrichosis and short stature" EXACT [] xref: MESH:C536626 xref: RDO:0002262 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:83 ! cataract is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002324 name: Retroperitoneal Liposarcoma synonym: "Giant pelvic retroperitoneal liposarcoma" EXACT [] synonym: "Pelvic retroperitoneal liposarcoma" EXACT [] xref: MESH:C538370 is_a: DOID:3382 ! liposarcoma is_a: DOID:9004476 ! Retroperitoneal Neoplasms [Term] id: DOID:9002325 name: Male Hypogonadism with Mental Retardation and Skeletal Anomalies alt_id: MIM:307500 xref: MESH:C564406 is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism [Term] id: DOID:9002326 name: Night Blindness Skeletal Anomalies Unusual Facies synonym: "Hunter Thomson Reed syndrome" EXACT [] xref: MESH:C536121 xref: RDO:0001563 is_a: DOID:11830 ! myopia is_a: DOID:8499 ! night blindness is_a: DOID:9001487 ! Facies [Term] id: DOID:9002327 name: Hyperparathyroidism 2 alt_id: MIM:145001 synonym: "Familial Cystic Parathyroid Adenomatosis" EXACT [] synonym: "Familial Primary Hyperparathyroidism with Multiple Ossifying Jaw Fibromas" EXACT [] synonym: "Hpt-Jt" EXACT [] synonym: "HPT-JT PARATHYROID ADENOMATOSIS, FAMILIAL CYSTIC" NARROW [] synonym: "HRPT2" EXACT [] synonym: "HYPERPARATHYROIDISM 2 WITH JAW TUMORS" EXACT [] synonym: "Hyperparathyroidism-Jaw Tumor Syndrome" EXACT [] synonym: "HYPERPARATHYROIDISM-JAW TUMOR SYNDROME, HEREDITARY" NARROW [] xref: MESH:C563273 is_a: DOID:0050871 ! fibroma is_a: DOID:11202 ! primary hyperparathyroidism is_a: DOID:1862 ! jaw cancer is_a: DOID:657 ! adenoma [Term] id: DOID:9002328 name: FERGUSON-BONNI NEURODEVELOPMENTAL SYNDROME def: "This disease is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, and hypotonia with early motor delay." [MIM:619699] synonym: "FERBON" EXACT [] xref: MIM:619699 is_a: DOID:1059 ! intellectual disability is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2022-03-14T17:17:02Z [Term] id: DOID:9002329 name: Adams-Oliver Syndrome 4 synonym: "AOS4" EXACT [] xref: MIM:615297 is_a: DOID:0060227 ! Adams-Oliver syndrome [Term] id: DOID:9002330 name: Familial Primary Cryofibrinogenemia alt_id: MIM:123540 xref: MESH:C565142 is_a: DOID:2917 ! cryoglobulinemia [Term] id: DOID:9002331 name: Knee Osteoarthritis def: "Noninflammatory degenerative disease of the knee joint consisting of three large categories: conditions that block normal synchronous movement, conditions that produce abnormal pathways of motion, and conditions that cause stress concentration resulting in changes to articular cartilage. (Crenshaw, Campbell's Operative Orthopaedics, 8th ed, p2019)" [MESH:D020370] synonym: "osteoarthritis of knee" EXACT [] synonym: "osteoarthritis of knees" EXACT [] xref: EFO:0004616 xref: MESH:D020370 is_a: DOID:8398 ! osteoarthritis [Term] id: DOID:9002332 name: Treft Sanborn Carey Syndrome synonym: "Dominant optic atrophy, deafness, ptosis, ophthalmoplegia, dystaxia, and myopathy" EXACT [] xref: MESH:C536544 xref: RDO:0002159 is_a: DOID:0060260 ! ptosis is_a: DOID:0080000 ! muscular disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:539 ! ophthalmoplegia is_a: DOID:5723 ! optic atrophy is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9002333 name: Metaphyseal Acroscyphodysplasia alt_id: MIM:250215 synonym: "cupped metaphyses and cone-shaped epiphyses of knees with brachydactyly" EXACT [] synonym: "wedge-shaped epiphyses of knees" EXACT [] xref: MESH:C537350 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9002334 name: Bassoe Syndrome xref: MESH:C537661 is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9002335 name: Lymphangiectasis def: "A transient dilatation of the lymphatic vessels." [MESH:D008200] synonym: "Lymphangiectases" EXACT [] xref: EFO:1001025 xref: MESH:D008200 xref: RDO:0003619 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:9002336 name: Renal, Genital, and Middle Ear Anomalies xref: MESH:C564849 xref: MIM:267400 xref: MONDO:0009969 xref: ORDO:1092 is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9002337 name: Aortic Aneurysm, Familial Abdominal 4 synonym: "AAA4" EXACT [] xref: MIM:614375 is_a: DOID:7693 ! abdominal aortic aneurysm [Term] id: DOID:9002339 name: NADH Cytochrome B5 Reductase Deficiency alt_id: MIM:250800 alt_id: OMIA:002131 alt_id: RDO:0003749 synonym: "CYB5R3-RELATED CONDITION" EXACT [] synonym: "diaphorase deficiency" EXACT [] synonym: "HEREDITARY METHEMOGLOBINEMIA" EXACT [] synonym: "methemoglobinaemia, CYB5R3-related" EXACT [] synonym: "Methemoglobinemia, Congenital, Autosomal Recessive" EXACT [] synonym: "METHEMOGLOBINEMIA, CONGENITAL, AUTOSOMAL RECESSIVE METHEMOGLOBINEMIA, TYPE I" NARROW [] synonym: "Methemoglobinemia due to deficiency of methemoglobin reductase" EXACT [] synonym: "methemoglobinemia, type I" EXACT [] synonym: "METHEMOGLOBINEMIA, TYPE II" NARROW [] synonym: "NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE I" NARROW [] synonym: "NADH-CYTOCHROME b5 REDUCTASE DEFICIENCY, TYPE II" NARROW [] synonym: "NADH-dependent methemoglobin reductase deficiency" EXACT [] synonym: "NADH diaphorase deficiency" EXACT [] synonym: "NADH methemoglobin reductase deficiency" EXACT [] xref: MESH:C537841 is_a: DOID:10783 ! methemoglobinemia [Term] id: DOID:9002340 name: Spinocerebellar Ataxia 32 synonym: "SCA32" EXACT [] xref: MIM:613909 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia [Term] id: DOID:9002342 name: Multiple Exostoses with Spastic Tetraparesis alt_id: MIM:158345 xref: MESH:C563566 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:9002598 ! Spastic Paraparesis [Term] id: DOID:9002343 name: Corneal Cerebellar Syndrome alt_id: MIM:271310 synonym: "Corneal dystrophy with spinocerebellar degeneration" EXACT [] synonym: "Der kaloustian Jarudi Khoury syndrome" EXACT [] synonym: "Spinocerebellar degeneration and corneal dystrophy" EXACT [] xref: MESH:C535472 is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:9002344 name: Gunshot Wounds def: "Disruption of structural continuity of the body as a result of the discharge of firearms." [MESH:D014948] synonym: "Gunshot Wound" EXACT [] xref: MESH:D014948 is_a: DOID:9000656 ! Penetrating Wounds [Term] id: DOID:9002346 name: Pharyngeal Neoplasms def: "Tumors or cancer of the PHARYNX." [MESH:D010610] synonym: "pharyngeal neoplasm" EXACT [] synonym: "pharynx neoplasm" EXACT [] synonym: "pharynx neoplasms" EXACT [] xref: MESH:D010610 is_a: DOID:9004130 ! Pharyngeal Diseases is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms [Term] id: DOID:9002347 name: MASP2 Deficiency synonym: "LCAPD2" EXACT [] synonym: "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 2" EXACT [] xref: MESH:C565360 xref: MIM:613791 xref: MONDO:0013423 is_a: DOID:9002118 ! Lectin Complement Activation Pathway Defects [Term] id: DOID:9002349 name: Charcot-Marie-Tooth Disease Type 1J def: "An autosomal dominant sensorimotor peripheral neuropathy characterized by distal muscle weakness and atrophy, as well as distal sensory impairment, predominantly affecting the lower limbs and resulting in gait abnormalities. Caused by heterozygous mutation in the ITPR3 gene on chromosome 6p21." [MIM:620111] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1J" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy, demyelinating, type 1J" EXACT [] synonym: "CMT1J" EXACT [] xref: MIM:620111 is_a: DOID:0050538 ! Charcot-Marie-Tooth disease type 1 created_by: mtutaj creation_date: 2022-11-04T16:19:40Z [Term] id: DOID:9002350 name: Hereditary Hemorrhagic Telangiectasia, Type 1 def: "Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Hereditary hemorrhagic telangiectasia type 1 (HHT1) is caused by heterozygous mutation in the gene encoding endoglin (ENG) on chromosome 9q34. (OMIM)" [] synonym: "ENG-RELATED CONDITION" EXACT [] synonym: "Haemorrhagic Telangiectasia 1" EXACT [] synonym: "HHT1" EXACT [] xref: MIM:187300 xref: MONDO:0008535 is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia created_by: rgd creation_date: 2016-02-12T00:00:00Z [Term] id: DOID:9002351 name: Lipomyelomeningocele alt_id: MIM:609537 synonym: "Familial lipomyelomeningocele" EXACT [] xref: MESH:C537030 is_a: DOID:0060326 ! myelomeningocele [Term] id: DOID:9002352 name: Corneal Dystrophy, Fuchs Endothelial, 6 alt_id: MIM:613270 synonym: "corneal dystrophy, Fuchs endothelial, late-onset" EXACT [] synonym: "FECD6" EXACT [] xref: MESH:C567675 xref: MONDO:0013206 is_a: DOID:11555 ! Fuchs' endothelial dystrophy [Term] id: DOID:9002353 name: Erythrocyte Lactate Transporter Defect alt_id: MIM:245340 synonym: "Lactate Transporter Defect, Myopathy due to" EXACT [] xref: MESH:C565449 xref: RDO:0014082 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9002354 name: Pityriasis Lichenoides alt_id: RDO:0002849 def: "A subgroup of PARAPSORIASIS itself divided into acute and chronic forms. The acute form is characterized by the abrupt onset of a generalized, reddish-brown, maculopapular eruption. Lesions may be vesicular, hemorrhagic, crusted, or necrotic. Histologically the disease is characterized by epidermal necrolysis. The chronic form shows milder skin changes with necrosis." [MESH:D017514] synonym: "Acute Pityriasis Lichenoides" EXACT [] synonym: "Chronic Pityriasis Lichenoides" EXACT [] synonym: "Habermann's Disease" EXACT [] synonym: "Habermann Disease" EXACT [] synonym: "Habermanns Disease" EXACT [] synonym: "Mucha Habermann Disease" EXACT [] synonym: "Pityriasis Lichenoides Chronica" EXACT [] synonym: "Pityriasis Lichenoides et Varioliformis Acuta" EXACT [] xref: MESH:D017514 is_a: DOID:8574 ! lichen disease is_a: DOID:9007287 ! Pityriasis is_a: DOID:9088 ! parapsoriasis [Term] id: DOID:9002355 name: Fetal Trimethadione Syndrome synonym: "Trimethadione embryopathy" EXACT [] xref: MESH:C537798 xref: RDO:0003702 is_a: DOID:225 ! syndrome is_a: DOID:9007828 ! Abnormalities, Drug-Induced [Term] id: DOID:9002356 name: Prostate Cancer, Hereditary, 2 synonym: "HPC2" EXACT [] xref: MIM:614731 is_a: DOID:9005539 ! Familial Prostate Cancer created_by: rgd creation_date: 2015-06-11T00:00:00Z [Term] id: DOID:9002357 name: Transient Antero-Apical Dyskinesia xref: MESH:C538679 xref: RDO:0004599 is_a: DOID:9002399 ! Takotsubo Cardiomyopathy [Term] id: DOID:9002358 name: Chromosome 12, 12p Trisomy synonym: "Duplication 12p" EXACT [] synonym: "Trisomy 12p" EXACT [] xref: MESH:C538299 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9002359 name: Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration alt_id: MIM:225755 xref: MESH:C565594 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:182 ! calcinosis is_a: DOID:8466 ! retinal degeneration is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:9002360 name: Cone Rod Dystrophy Amelogenesis Imperfecta xref: MESH:C535976 xref: RDO:0001369 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:2187 ! amelogenesis imperfecta [Term] id: DOID:9002361 name: Bazex-Dupre-Christol Syndrome alt_id: MIM:301845 synonym: "Bazex syndrome" EXACT [] synonym: "BDCS" EXACT [] synonym: "BZX" EXACT [] synonym: "Follicular atrophoderma and basal cell carcinomas" EXACT [] synonym: "Follicular atrophoderma-basal cell carcinoma syndrome" EXACT [] synonym: "Follicular atrophoderma-basocellular proliferations-hypotrichosis syndrome" EXACT [] xref: MESH:C537663 is_a: DOID:225 ! syndrome is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:4535 ! hypotrichosis is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9002362 name: Hyperkinesis def: "Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders." [MESH:D006948] synonym: "Generalized Hyperkinesia" EXACT [] synonym: "Generalized Hyperkinesias" EXACT [] synonym: "Hyperkinesia" EXACT [] synonym: "Hyperkinetic Movement" EXACT [] synonym: "Hyperkinetic Movements" EXACT [] synonym: "Motor Hyperactivity" EXACT [] xref: MESH:D006948 is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9002363 name: Nonphotosensitive Trichothiodystrophy 8 def: "Characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Caused by compound heterozygous mutation in the AARS1 gene on chromosome 16q22." [MIM:619691] synonym: "TTD8" EXACT [] xref: MIM:619691 is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy created_by: mtutaj creation_date: 2022-01-06T14:37:44Z [Term] id: DOID:9002364 name: Stoll Levy Francfort Syndrome alt_id: MIM:171480 synonym: "Facioauriculoradial dysplasia" EXACT [] synonym: "Phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia" EXACT [] xref: MESH:C537498 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9002365 name: Ovarian Granulosa Cell Tumor def: "This is a granulosa-stromal cell tumor that arises from the ovary. It is characterized by the presence of granulosa cells that comprise at least ten percent of the cellular population. The granulosa cells are often found in a background that contains theca and fibrous cells. There are two major subtypes recognized, adult and juvenile granulosa cell tumor. Clinically, patients may present with an abdominal mass. Symptoms depend on the patient's age. The most important indicator of prognosis is tumor stage. Age over forty years at the time of the initial diagnosis, large tumor size, bilaterality, cellular atypia, and increased mitotic activity are factors indicating a potentially aggressive clinical course and relative poor prognosis." [EFO:1000421] xref: EFO:1000421 xref: NCI:C6261 is_a: DOID:9002762 ! Ovarian Neoplasms created_by: slaulede creation_date: 2022-09-01T14:41:25Z [Term] id: DOID:9002366 name: Protozoan Encephalitis is_a: DOID:9003824 ! Infectious Encephalitis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:9002367 name: Diamond-Blackfan Anemia 21 def: "An autosomal recessive bone marrow failure syndrome that includes selective erythroid hypoplasia, anemia with transient thrombocytopenia, short stature, facial dysmorphism, limb abnormalities, cardiac defects, and intellectual disability. Caused by homozygous or compound heterozygous mutations in the HEATR3 gene on chromosome 16q12." [MIM:620072] synonym: "DBA21" EXACT [] xref: MIM:620072 is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: mtutaj creation_date: 2022-10-13T10:02:05Z [Term] id: DOID:9002368 name: Cutis Marmorata Telangiectatica Congenita alt_id: MIM:219250 synonym: "CMTC" EXACT [] synonym: "Hereditary cutis marmorata telangiectatica congenita" EXACT [] xref: MESH:C536226 is_a: DOID:1272 ! telangiectasis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:9002369 name: osteogenesis imperfecta type 2C synonym: "Osteogenesis Imperfecta, Type 2C" EXACT [] synonym: "Osteogenesis Imperfecta, Type IIC" EXACT [] xref: RDO:9000752 is_a: DOID:0110341 ! osteogenesis imperfecta type 2 [Term] id: DOID:9002370 name: Ectodermal Dysplasia-Syndactyly Syndrome 1 synonym: "EDSS1" EXACT [] xref: MIM:613573 is_a: DOID:9000244 ! Ectodermal Dysplasia-Syndactyly Syndrome [Term] id: DOID:9002371 name: Cardiotoxicity def: "Damage to the heart or its function secondary to exposure to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION." [MESH:D066126] synonym: "Cardiac Toxicities" EXACT [] synonym: "Cardiac Toxicity" EXACT [] synonym: "Cardiotoxicities" EXACT [] xref: EFO:1001482 xref: MESH:D066126 is_a: DOID:9000111 ! Radiation Injuries is_a: DOID:9004611 ! Pathologic Processes is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions [Term] id: DOID:9002372 name: Radius Absent Anogenital Anomalies alt_id: MIM:312190 synonym: "Radial Aplasia And Anogenital Anomalies" EXACT [] synonym: "Radial aplasia, X-linked" EXACT [] xref: MESH:C535281 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080006 ! bone development disease is_a: DOID:10892 ! hypospadias is_a: DOID:10908 ! hydrocephalus [Term] id: DOID:9002374 name: Coronary Artery Disease, Autosomal Dominant 2 alt_id: MIM:610947 synonym: "ADCAD2" EXACT [] synonym: "LRP6-RELATED CONDITION" BROAD [] xref: MESH:C567045 is_a: DOID:3393 ! coronary artery disease is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:9002375 name: Childhood Myocerebrohepatopathy Spectrum xref: MESH:C579990 xref: RDO:0015869 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9002376 name: Mandibulofacial Dysostosis with Ptosis, Autosomal Dominant alt_id: MIM:608257 xref: MESH:C564267 is_a: DOID:0060260 ! ptosis is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:9002377 name: Supravalvar Aortic Stenosis, Eisenberg Type xref: MESH:C538461 is_a: DOID:1929 ! supravalvular aortic stenosis [Term] id: DOID:9002378 name: Urethral Neoplasms alt_id: RDO:0006788 def: "Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males." [MESH:D014523] synonym: "Urethral Neoplasm" EXACT [] synonym: "urethra neoplasm" EXACT [] synonym: "urethra neoplasms" EXACT [] xref: EFO:0003846 xref: MESH:D014523 is_a: DOID:732 ! urethral disease is_a: DOID:9004643 ! Urologic Neoplasms [Term] id: DOID:9002379 name: Congenital Deficiency of Pulmonary Surfactant Protein B synonym: "Congenital Surfactant Protein-B Deficiency" EXACT [] synonym: "Pulmonary Surfactant Protein B, Deficiency of" EXACT [] synonym: "Surfactant Protein B Deficiency" EXACT [] xref: MESH:C553654 xref: RDO:0009971 is_a: DOID:12120 ! pulmonary alveolar proteinosis [Term] id: DOID:9002381 name: Progressive Familial Intrahepatic Cholestasis 9 def: "An autosomal recessive disorder characterized by onset of cholestasis associated with increased serum gamma-glutamyltransferase (GGT) in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the ZFYVE19 gene on chromosome 15q15." [MIM:619849] synonym: "PFIC9" EXACT [] xref: MIM:619849 is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis created_by: mtutaj creation_date: 2022-04-28T11:48:31Z [Term] id: DOID:9002382 name: Alopecia Universalis, Onychodystrophy, Vitiligo alt_id: RDO:0002816 synonym: "Alopecia universalis, onychodystrophy, and total vitiligo" EXACT [] xref: MESH:C537056 is_a: DOID:0050634 ! alopecia universalis is_a: DOID:12306 ! vitiligo is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9002383 name: Lamb-Shaffer Syndrome alt_id: RDO:9000386 def: "A neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. (OMIM)" [] synonym: "LAMSHF" RELATED [] xref: MIM:616803 is_a: DOID:225 ! syndrome is_a: DOID:9008086 ! Developmental Disabilities created_by: rgd creation_date: 2016-03-11T00:00:00Z [Term] id: DOID:9002385 name: Limb-Mammary Syndrome synonym: "LMS" EXACT [] synonym: "mammary hypoplasia, ectrodactyly, and other hand-foot anomalies" EXACT [] xref: MESH:C535903 xref: MIM:603543 xref: MONDO:0011334 is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9002387 name: FG Syndrome 2 def: "The phenotypic spectrum and severity of this disease is wide, but the cardinal features include congenital hypotonia, delayed speech development, relative macrocephaly, dysmorphic facies, and anal anomalies or severe constipation." [MIM:300321] synonym: "FGS2" EXACT [] xref: MIM:300321 is_a: DOID:14711 ! FG syndrome created_by: mtutaj creation_date: 2020-02-17T13:16:31Z [Term] id: DOID:9002388 name: Chromosome 13q Trisomy synonym: "Duplication 13q" EXACT [] synonym: "Trisomy 13q" EXACT [] xref: MESH:C535485 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9002389 name: Costocoracoid Ligament Congenitally Short alt_id: MIM:122580 synonym: "Congenital shortness of the costocoracoid ligament" EXACT [] xref: MESH:C536448 is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002390 name: Primary Cutaneous Anaplastic Large Cell Lymphoma def: "Anaplastic lymphoma of the skin which develops as a primary neoplasm expressing the CD30 ANTIGEN. It is characterized by solitary nodules or ulcerated tumors." [MESH:D054446] synonym: "Primary Cutaneous CD30 positive Large T Cell Lymphoma" EXACT [] xref: MESH:D054446 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma [Term] id: DOID:9002391 name: Arterial Dissection with Lentiginosis alt_id: MIM:600459 xref: MESH:C563937 is_a: DOID:178 ! vascular disease is_a: DOID:9000319 ! Lentigo [Term] id: DOID:9002393 name: Isolated Prolactin Deficiency alt_id: MIM:264110 xref: MESH:C562708 is_a: DOID:630 ! genetic disease is_a: DOID:9008748 ! Lactation Disorders [Term] id: DOID:9002394 name: INTERSTITIAL LUNG AND LIVER DISEASE def: "An autosomal recessive disorder characterized by onset of respiratory insufficiency and progressive liver disease in infancy or early childhood." [MIM:615486] synonym: "ILLD" EXACT [] synonym: "PULMONARY ALVEOLAR PROTEINOSIS, REUNION ISLAND" EXACT [] xref: MIM:615486 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:409 ! liver disease created_by: slaulede creation_date: 2018-11-09T10:44:53Z [Term] id: DOID:9002395 name: Hypothermia def: "Lower than normal body temperature, especially in warm-blooded animals." [MESH:D007035] synonym: "Accidental Hypothermia" EXACT [] synonym: "Accidental Hypothermias" EXACT [] synonym: "Hypothermias" EXACT [] xref: MESH:D007035 is_a: DOID:9008809 ! Body Temperature Changes [Term] id: DOID:9002396 name: Spinocerebellar Ataxia 50 def: "An autosomal dominant neurologic disorder characterized by cerebellar ataxia, oculomotor apraxia and other eye movement abnormalities, and cerebellar atrophy on brain imaging. Caused by heterozygous mutation in the NPTX1 gene on chromosome 17q25." [MIM:620158] synonym: "SCA50" EXACT [] xref: MIM:620158 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: mtutaj creation_date: 2022-12-21T15:33:40Z [Term] id: DOID:9002397 name: Congenital Disorder of Glycosylation, Type I/IIx alt_id: MIM:212067 alt_id: RDO:0012390 def: "Untyped and unclassified cases of Congenital Disorder of Glycosylation. (OMIM)" [] synonym: "CDG-x" EXACT [] xref: MESH:C562844 is_a: DOID:5212 ! congenital disorder of glycosylation [Term] id: DOID:9002398 name: ANOREXIA NERVOSA 2 is_a: DOID:8689 ! anorexia nervosa created_by: slaulede creation_date: 2019-06-26T10:33:27Z [Term] id: DOID:9002399 name: Takotsubo Cardiomyopathy def: "A transient left ventricular apical dysfunction or ballooning accompanied by electrocardiographic (ECG) T wave inversions. This abnormality is associated with high levels of CATECHOLAMINES, either administered or endogenously secreted from a tumor or during extreme stress." [MESH:D054549] synonym: "Apical Ballooning Syndrome" EXACT [] synonym: "Broken Heart Syndrome" EXACT [] synonym: "Left Ventricular Apical Ballooning Syndrome" EXACT [] synonym: "Stress Cardiomyopathy" EXACT [] synonym: "Syndromes, Broken Heart" EXACT [] synonym: "Tako tsubo Cardiomyopathy" EXACT [] synonym: "Tako tsubo Syndrome" EXACT [] synonym: "Takotsubo Syndrome" EXACT [] synonym: "Tako-tsubo Syndromes" EXACT [] synonym: "Transient Apical Ballooning Syndrome" EXACT [] xref: EFO:1002000 xref: MESH:D054549 xref: NCI:C85181 xref: RDO:0004600 is_a: DOID:9001747 ! Ventricular Dysfunction, Left [Term] id: DOID:9002400 name: Unilateral Aplasia of Extensor Muscles of Fingers, with Generalized Polyneuropathy alt_id: MIM:207740 xref: MESH:C565945 is_a: DOID:0080000 ! muscular disease is_a: DOID:1389 ! polyneuropathy is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9002402 name: Slowed Nerve Conduction Velocity, Autosomal Dominant alt_id: MIM:608236 alt_id: OMIA:001917 synonym: "SNCV" EXACT [] xref: MESH:C564269 xref: RDO:0013292 is_a: DOID:2477 ! motor peripheral neuropathy [Term] id: DOID:9002403 name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome synonym: "Megalencephaly, Mega Corpus Callosum, And Complete Lack Of Motor Development" EXACT [] synonym: "Megalencephaly, Polymicrogyria, Mega Corpus Callosum Syndrome" EXACT [] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome, somatic" NARROW [] synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [] synonym: "Meg-Pmg-Megacc Syndrome" EXACT [] synonym: "MPPH" EXACT [] xref: GARD:10341 xref: MESH:C566381 xref: MIM:PS603387 xref: MONDO:0019375 xref: ORDO:83473 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:10908 ! hydrocephalus is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome [Term] id: DOID:9002404 name: Systemic Hemosiderosis due to Aceruloplasminemia xref: MESH:C565801 is_a: DOID:12119 ! hemosiderosis [Term] id: DOID:9002406 name: Bernard-Soulier Syndrome, Autosomal Dominant xref: MESH:C567696 is_a: DOID:2217 ! Bernard-Soulier syndrome [Term] id: DOID:9002407 name: Spinal Fractures def: "Broken bones in the vertebral column." [MESH:D016103] synonym: "Hangman's Fracture" EXACT [] synonym: "Hangman Fracture" EXACT [] synonym: "Hangmans Fracture" EXACT [] synonym: "Spinal Fracture" EXACT [] xref: EFO:0003902 xref: MESH:D016103 is_a: DOID:9001077 ! Spinal Injuries is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9002408 name: Sketetal Dysplasia Coarse Facies Mental Retardation synonym: "Spondyloepimetaphyseal dysplasia X-linked with mental deterioration" EXACT [] xref: MESH:C536671 xref: RDO:0002317 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9002409 name: Amniotic Band Sequence alt_id: MIM:217100 synonym: "Amniotic bands sequence" EXACT [] synonym: "Congenital constricting bands" EXACT [] synonym: "Familial amniotic bands" EXACT [] synonym: "Streeter anomaly" EXACT [] xref: MESH:C531614 is_a: DOID:9005644 ! Amniotic Band Syndrome [Term] id: DOID:9002410 name: Saul Wilkes Stevenson syndrome xref: MESH:C536617 is_a: DOID:14261 ! fragile X syndrome [Term] id: DOID:9002411 name: Crome Syndrome alt_id: MIM:218900 xref: MESH:C536216 is_a: DOID:225 ! syndrome is_a: DOID:3021 ! acute kidney failure is_a: DOID:83 ! cataract is_a: DOID:936 ! brain disease [Term] id: DOID:9002412 name: Ovarian Dysgenesis 10 def: "Characterized by primary amenorrhea and absent puberty. Caused by homozygous mutation in the ZSWIM7 gene on chromosome 17p12." [MIM:619834] synonym: "ODG10" EXACT [] xref: MIM:619834 is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: mtutaj creation_date: 2022-04-12T14:30:46Z [Term] id: DOID:9002414 name: NEURODEVELOPMENTAL-CRANIOFACIAL SYNDROME WITH VARIABLE RENAL AND CARDIAC ABNORMALITIES def: "This disease is an autosomal dominant disorder characterized by dysmorphic craniofacial features associated with mild developmental delay, mildly impaired intellectual development or learning difficulties, speech delay, and behavioral abnormalities." [MIM:619522] synonym: "NECRC" EXACT [] xref: MIM:619522 is_a: DOID:114 ! heart disease is_a: DOID:557 ! kidney disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulede creation_date: 2021-10-21T15:28:16Z [Term] id: DOID:9002415 name: Rhizomelic Osteochondrodysplasia with Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension alt_id: MIM:166990 xref: MESH:C563478 is_a: DOID:10763 ! hypertension is_a: DOID:10908 ! hydrocephalus is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:9002416 name: X Inactivation, Familial Skewed, 1 synonym: "SXI1" EXACT [] xref: MESH:C564716 xref: MIM:300087 xref: MONDO:0026404 is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:9002417 name: Pontine Microangiopathy and Leukoencephalopathy, Autosomal Dominant def: "A form of cerebral small vessel disease (cSVD) resulting in the onset of recurrent ischemic strokes in the thirties or forties. Affected individuals develop progressive, cognitive and motor impairment, consistent with progressive multi-infarct dementia. Brain imaging shows lacunar infarcts, often with a pontine predilection, as well as diffuse leukoencephalopathy affecting various brain regions." [] synonym: "DEMENTIA, HEREDITARY MULTI-INFARCT, SWEDISH TYPE" EXACT [] synonym: "PADMAL" EXACT [] xref: MIM:618564 is_a: DOID:178 ! vascular disease is_a: DOID:9002704 ! Leukoencephalopathies created_by: slaulede creation_date: 2019-10-10T13:15:11Z [Term] id: DOID:9002418 name: Chromosome 22, Monosome Mosaic synonym: "Chromosome 22 mosaic monosomy" EXACT [] synonym: "Mosaic Monosome 22" EXACT [] xref: MESH:C536798 xref: RDO:0002489 is_a: DOID:0080014 ! chromosomal disease [Term] id: DOID:9002419 name: Multisystem Autoimmune Disease, Infantile-Onset xref: MIM:PS615952 xref: RDO:9005173 is_a: DOID:417 ! autoimmune disease created_by: rgd creation_date: 2017-12-05T00:00:00Z [Term] id: DOID:9002420 name: BDV Syndrome def: "This disease is an autosomal recessive disorder characterized by obesity, impaired intellectual development, and hypogonadotropic hypogonadism." [MIM:619326] synonym: "BDV" EXACT [] synonym: "Blakemore-Durmaz-Vasileiou syndrome" EXACT [] synonym: "CPE-RELATED CONDITION" EXACT [] synonym: "IDDHH" EXACT [] synonym: "intellectual developmental disorder and hypogonadotropic hypogonadism" EXACT [] xref: MIM:619326 is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:1059 ! intellectual disability created_by: slaulede creation_date: 2021-08-13T17:40:22Z [Term] id: DOID:9002421 name: Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development def: "An early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients. (OMIM)" [] synonym: "MCM3AP-RELATED CONDITION" EXACT [] synonym: "PNRIID" EXACT [] xref: MIM:618124 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:1059 ! intellectual disability is_a: DOID:870 ! neuropathy created_by: slaulede creation_date: 2019-01-16T17:05:56Z [Term] id: DOID:9002422 name: Thrombocytopenia, Anemia, and Myelofibrosis alt_id: RDO:9001733 synonym: "THAMY" EXACT [] xref: MIM:617441 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:2355 ! anemia is_a: DOID:9006561 ! Familial Myelofibrosis [Term] id: DOID:9002423 name: Spirochaetales Infections def: "Infections with bacteria of the order SPIROCHAETALES." [MESH:D013145] synonym: "Spirochaetales Infection" EXACT [] synonym: "Spirochete Infection" EXACT [] synonym: "Spirochete Infections" EXACT [] xref: EFO:0009567 xref: MESH:D013145 xref: RDO:0005038 is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:9002424 name: SCARF Syndrome alt_id: MIM:312830 synonym: "Skeletal Abnormalities, Cutis Laxa, Craniostenosis, Ambiguous Genitalia, Retardation, And Facial Abnormalities" EXACT [] xref: MESH:C536625 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:3144 ! cutis laxa is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9002426 name: Ventricular Fibrillation, Paroxysmal Familial, 2 alt_id: MIM:612956 synonym: "VF2" EXACT [] xref: MESH:C567841 xref: RDO:0012060 is_a: DOID:9004416 ! Paroxysmal Ventricular Fibrillation [Term] id: DOID:9002427 name: Fetal Macrosomia def: "A condition of fetal overgrowth leading to a large-for-gestational-age FETUS. It is defined as BIRTH WEIGHT greater than 4,000 grams or above the 90th percentile for population and sex-specific growth curves. It is commonly seen in GESTATIONAL DIABETES; PROLONGED PREGNANCY; and pregnancies complicated by pre-existing diabetes mellitus." [MESH:D005320] synonym: "Fetal Macrosomias" EXACT [] xref: MESH:D005320 is_a: DOID:11714 ! gestational diabetes is_a: DOID:9000888 ! Pregnancy in Diabetics is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9002661 ! Diabetes Complications is_a: DOID:9003996 ! Birth Weight [Term] id: DOID:9002428 name: Blue Rubber Bleb Nevus Syndrome alt_id: MIM:112200 synonym: "Bean syndrome" EXACT [] synonym: "Blue rubber bleb nevus" EXACT [] xref: MESH:C536240 is_a: DOID:225 ! syndrome is_a: DOID:9001740 ! Blue Nevus is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:9002429 name: Colorblindness, Partial Tritanomaly synonym: "Tritanomalous Colorblindness" EXACT [] xref: MESH:C564440 xref: RDO:0013404 is_a: DOID:13399 ! color blindness [Term] id: DOID:9002430 name: Tarsal Coalition alt_id: MIM:186850 def: "Congenital, complete or partial fusion of the TARSAL BONES of the foot. PES PLANUS is usually a feature." [MESH:D000070604] synonym: "Tarsal Coalitions" EXACT [] synonym: "Tarsal Fusion" EXACT [] synonym: "Tarsal Synostoses" EXACT [] synonym: "Tarsal Synostosis" EXACT [] xref: MESH:D000070604 is_a: DOID:11971 ! synostosis is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:9002431 name: Microcornea, Glaucoma, and Absent Frontal Sinuses alt_id: MIM:156700 synonym: "Hereditary microcornea, glaucoma, and absent frontal sinuses" EXACT [] xref: MESH:C537552 is_a: DOID:1686 ! glaucoma is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9002432 name: Orofaciodigital Syndrome 13 xref: MESH:C548035 is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:9002433 name: Schistosomiasis Japonica def: "Schistosomiasis caused by Schistosoma japonicum. It is endemic in the Far East and affects the bowel, liver, and spleen." [MESH:D012554] synonym: "schistosoma japonicum infection" EXACT [] synonym: "schistosomiasis japonicum" EXACT [] xref: EFO:1001419 xref: MESH:D012554 xref: NCI:C35001 is_a: DOID:0050597 ! intestinal schistosomiasis [Term] id: DOID:9002434 name: Keratoconus 3 alt_id: MIM:608586 synonym: "KTCN3" EXACT [] xref: MESH:C563900 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9002435 name: Metabolic Skin Diseases def: "Diseases of the skin associated with underlying metabolic disorders." [MESH:D012875] synonym: "Metabolic Skin Disease" EXACT [] xref: MESH:D012875 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:37 ! skin disease [Term] id: DOID:9002438 name: Foreign-Body Reaction def: "Chronic inflammation and granuloma formation around irritating foreign bodies." [MESH:D005549] xref: MESH:D005549 xref: RDO:0005626 is_a: DOID:9003074 ! Foreign Bodies is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9002439 name: Oliver Syndrome alt_id: MIM:258200 synonym: "postaxial polydactyly and mental retardation" EXACT [] xref: MESH:C564931 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9002441 name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26 synonym: "autosomal recessive limb-girdle muscular dystrophy-26" EXACT [] synonym: "LGMDR26" EXACT [] xref: MIM:618848 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: mtutaj creation_date: 2020-04-22T08:38:09Z [Term] id: DOID:9002443 name: Dupuytren Contracture 1 xref: MESH:C565083 xref: RDO:0013821 is_a: DOID:9003793 ! Dupuytren Contracture [Term] id: DOID:9002444 name: Madelung Deformity xref: MESH:C562398 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002445 name: Anal Sphincter Dysplasia alt_id: MIM:105563 synonym: "ASDP" EXACT [] xref: MESH:C538254 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9001581 ! Constipation is_a: DOID:9007845 ! Encopresis is_a: DOID:9008184 ! Fecal Incontinence [Term] id: DOID:9002446 name: Combined Pituitary Hormone Deficiency 5 alt_id: MESH:C531815 synonym: "CPHD5" EXACT [] synonym: "growth hormone deficiency with pituitary anomalies" EXACT [] synonym: "hypopituitarism and septooptic dysplasia" EXACT [] xref: MESH:C567632 is_a: DOID:0060857 ! septooptic dysplasia is_a: DOID:9410 ! panhypopituitarism [Term] id: DOID:9002447 name: Myoectodermal Gonadal Dysgenesis Syndrome alt_id: DOID:9004145 alt_id: DOID:9007683 alt_id: MESH:C537019 alt_id: MESH:C565536 def: "GDRM is characterized by 46,XY complete gonadal dysgenesis in association with extragonadal anomalies, including low birth weight, typical facial gestalt, rod and cone dystrophy, sensorineural hearing loss, omphalocele, anal atresia, renal agenesis, skeletal abnormalities, dry and scaly skin, severe myopathy, and neuromotor delay. GDRM is caused by homozygous mutation in the PPP2R3C gene on chromosome 14q13. (OMIM)" [] synonym: "AGONADISM, 46,XY, WITH MENTAL RETARDATION, SHORT STATURE, RETARDED BONE AGE, AND MULTIPLE EXTRAGENITAL MALFORMATIONS" EXACT [] synonym: "Agonadism mental retardation delayed bone age" EXACT [] synonym: "BKGK" EXACT [] synonym: "Brosnan-Kennerknecht-Guran-Koc Syndrome" EXACT [] synonym: "GDRM" EXACT [] synonym: "Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy and Myopathy" EXACT [] synonym: "Gonadal Dysgenesis, XY Type, with Associated Anomalies" EXACT [] synonym: "Kennerknecht Vogel Syndrome" EXACT [] synonym: "MEGD" EXACT [] xref: MIM:618419 is_a: DOID:0080001 ! bone disease is_a: DOID:14448 ! 46,XY sex reversal is_a: DOID:225 ! syndrome is_a: DOID:423 ! myopathy is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities created_by: gthayman creation_date: 2019-05-29T11:34:32Z [Term] id: DOID:9002448 name: Thrombotic Thrombocytopenic Purpura, Acquired synonym: "Idiopathic thrombotic thrombocytopenic purpura" EXACT [] synonym: "Moschowitz syndrome" EXACT [] xref: MESH:C536901 is_a: DOID:10772 ! thrombotic thrombocytopenic purpura [Term] id: DOID:9002449 name: Glomus Jugulare Tumor def: "A paraganglioma involving the glomus jugulare, a microscopic collection of chemoreceptor tissue in the adventitia of the bulb of the jugular vein. It may cause paralysis of the vocal cords, attacks of dizziness, blackouts, and nystagmus. It is not resectable but radiation therapy is effective. It regresses slowly, but permanent control is regularly achieved. (From Dorland, 27th ed; Stedman, 25th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, pp1603-4)" [MESH:D005925] synonym: "familial glomus tumors, 1" EXACT [] synonym: "glomus jugulare tumors" EXACT [] xref: EFO:1000353 xref: EFO:1001796 xref: MESH:D005925 is_a: DOID:0050773 ! paraganglioma [Term] id: DOID:9002450 name: Iliotibial Band Syndrome def: "An overuse injury causing lateral knee pain that results from repetitive friction of the iliotibial band over the lateral femoral epicondyle." [MESH:D058745] xref: MESH:D058745 is_a: DOID:225 ! syndrome is_a: DOID:9004498 ! Cumulative Trauma Disorders is_a: DOID:9008290 ! Knee Injuries [Term] id: DOID:9002451 name: Macrodactyly of the Foot synonym: "Megalodactylism of the foot" EXACT [] synonym: "Megalodactyly of the foot" EXACT [] xref: MESH:C537719 xref: RDO:0003608 is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:9002453 name: Cafe-au-Lait Spots def: "Light brown pigmented macules associated with NEUROFIBROMATOSIS and Albright's syndrome (see FIBROUS DYSPLASIA, POLYOSTOTIC)." [MESH:D019080] synonym: "Cafe-au-Lait Spot" EXACT [] xref: MESH:D019080 xref: RDO:0000894 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9007472 ! Skin Manifestations [Term] id: DOID:9002456 name: Peritonsillar Abscess def: "An accumulation of purulent material in the area between the PALATINE TONSIL and its capsule." [MESH:D000039] synonym: "Peritonsillar Abscesses" EXACT [] xref: EFO:0007429 xref: MESH:D000039 is_a: DOID:10456 ! tonsillitis is_a: DOID:9000325 ! Abscess [Term] id: DOID:9002457 name: Experimental Arthritis def: "ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN." [MESH:D001169] synonym: "Adjuvant Arthritis" EXACT [] synonym: "Arthritis, Adjuvant-Induced" EXACT [] synonym: "Collagen Arthritides" EXACT [] synonym: "Collagen Arthritis" EXACT [] synonym: "Collagen-Induced Arthritides" EXACT [] synonym: "Collagen-Induced Arthritis" EXACT [] xref: EFO:1001787 xref: MESH:D001169 is_a: DOID:848 ! arthritis is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9002458 name: Roifman Syndrome alt_id: MIM:616651 synonym: "RFMN" EXACT [] synonym: "Spondyloepiphseal dysplasia, retinal dystrophy, and antibody deficiency" EXACT [] synonym: "SPONDYLOEPIPHYSEAL DYSPLASIA, RETINAL DYSTROPHY, AND ANTIBODY DEFICIENCY" EXACT [] xref: MESH:C535866 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:5679 ! retinal disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9002459 name: ocular sarcoidosis def: "This disease is a leading cause of inflammatory eye disease. Ocular sarcoidosis can involve any part of the eye, and may cause uveitis, scleritis, eyelid abnormalities, conjunctival granuloma, optic neuropathy, lacrimal gland enlargement and orbital inflammation." [EFO:0010723] xref: EFO:0010723 is_a: DOID:11335 ! sarcoidosis is_a: DOID:5614 ! eye disease created_by: slaulede creation_date: 2023-01-20T13:22:38Z [Term] id: DOID:9002460 name: Progressive Familial Intrahepatic Cholestasis 7 def: "An autosomal recessive liver disorder characterized by infantile-onset jaundice and itching associated with cholestasis, elevated alanine aminotransferase (ALT) and aspartate aminotransferase (AST), and normal gamma glutamyltransferase (GGT). Caused by homozygous or compound heterozygous mutation in the USP53 gene on chromosome 4q26." [MIM:619658] synonym: "CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS" EXACT [] synonym: "PFIC7" EXACT [] synonym: "progressive intrahepatic cholestasis 7 with or without hearing loss" EXACT [] xref: MIM:619658 is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis created_by: mtutaj creation_date: 2021-12-22T09:23:10Z [Term] id: DOID:9002461 name: Pruritus Vulvae def: "Intense itching of the external female genitals." [MESH:D011539] xref: MESH:D011539 is_a: DOID:2059 ! vulvar disease is_a: DOID:9006202 ! Pruritus [Term] id: DOID:9002462 name: Distal Symphalangism, with Microdontia, Dental Pulp Stones, and Narrowed Zygomatic Arch alt_id: MIM:606895 synonym: "Distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch" EXACT [] xref: MESH:C538148 is_a: DOID:5608 ! dental pulp calcification [Term] id: DOID:9002463 name: Premature Aging Syndrome, Okamoto Type alt_id: MIM:601811 xref: MESH:C566621 is_a: DOID:3911 ! progeria [Term] id: DOID:9002464 name: Autoimmune Hypophysitis def: "Immune-mediated inflammation of the PITUITARY GLAND often associated with other autoimmune diseases (e.g., HASHIMOTO DISEASE; GRAVES DISEASE; and ADDISON DISEASE)." [MESH:D000069281] synonym: "Anti PIT 1 Antibody Syndrome" EXACT [] synonym: "Anti-PIT-1 Antibody Syndromes" EXACT [] synonym: "Autoimmune Hypophysitides" EXACT [] synonym: "Idiopathic Granulomatous Hypophysitides" EXACT [] synonym: "Idiopathic Granulomatous Hypophysitis" EXACT [] synonym: "IgG4-Related Hypophysitides" EXACT [] synonym: "IgG4 Related Hypophysitis" EXACT [] synonym: "Lymphocytic Adenohypophysitides" EXACT [] synonym: "Lymphocytic Adenohypophysitis" EXACT [] synonym: "Lymphocytic Hypophysitides" EXACT [] synonym: "Lymphocytic Hypophysitis" EXACT [] synonym: "Lymphocytic Infundibuloneurohypophysitides" EXACT [] synonym: "Lymphocytic Infundibuloneurohypophysitis" EXACT [] synonym: "Lymphocytic Panhypophysitides" EXACT [] synonym: "Lymphocytic Panhypophysitis" EXACT [] synonym: "Lymphoid Hypophysitides" EXACT [] synonym: "Lymphoid Hypophysitis" EXACT [] xref: MESH:D000069281 is_a: DOID:417 ! autoimmune disease is_a: DOID:9004817 ! Hypophysitis [Term] id: DOID:9002465 name: Uterus Bicornis Bicollis with Partial Vaginal Septum and Unilateral Hematocolpos with Ipsilateral Renal Agenesis alt_id: MIM:192050 xref: MESH:C566010 is_a: DOID:9004458 ! Hematocolpos [Term] id: DOID:9002466 name: Ring Chromosome 20 Syndrome alt_id: RDO:0000451 synonym: "R(20) Syndrome" EXACT [] synonym: "Ring 20 Syndrome" EXACT [] synonym: "Ring Chromosome 20" EXACT [] synonym: "Ring Chromosome 20 Epilepsy Syndrome" EXACT [] xref: MESH:C535369 xref: MESH:C580424 xref: NCI:C169001 xref: RDO:0015922 is_a: DOID:225 ! syndrome is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9002467 name: Mycoplasma Infections def: "Infections with species of the genus MYCOPLASMA." [MESH:D009175] synonym: "Eperythrozoonoses" EXACT [] synonym: "Eperythrozoonosis" EXACT [] synonym: "Mycoplasma Infection" EXACT [] xref: MESH:D009175 is_a: DOID:9008587 ! Mycoplasmatales Infections [Term] id: DOID:9002468 name: Sleep Paralysis def: "A common condition characterized by transient partial or total paralysis of skeletal muscles and areflexia that occurs upon awakening from sleep or less often while falling asleep. Stimuli such as touch or sound may terminate the episode, which usually has a duration of seconds to minutes. This condition may occur in normal subjects or be associated with NARCOLEPSY; CATAPLEXY; and hypnagogic HALLUCINATIONS. The pathophysiology of this condition is closely related to the normal hypotonia that occur during REM sleep. (From Adv Neurol 1995;67:245-271)" [MESH:D020188] xref: MESH:D020188 is_a: DOID:9000475 ! REM Sleep Parasomnias [Term] id: DOID:9002469 name: Carpenter Syndrome 2 synonym: "CRPT2" EXACT [] xref: MIM:614976 is_a: DOID:0060234 ! Carpenter syndrome [Term] id: DOID:9002470 name: Retinal Dystrophy, Iris Coloboma, and Comedogenic Acne Syndrome alt_id: RDO:9000495 synonym: "RDCCAS" EXACT [] xref: MIM:615147 is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:6543 ! acne is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:9002471 name: Progressive Familial Intrahepatic Cholestasis 6 def: "An autosomal recessive disorder characterized by elevated liver transaminases, cholestasis, and congenital diarrhea. Caused by homozygous mutation in the SLC51A gene on chromosome 3q29. (OMIM)" [] synonym: "PFIC6" EXACT [] xref: MIM:619484 is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis created_by: mtutaj creation_date: 2021-08-25T10:40:16Z [Term] id: DOID:9002472 name: Small Intestinal Diverticulosis alt_id: MIM:223320 xref: MESH:C565620 is_a: DOID:9001008 ! Diverticulum [Term] id: DOID:9002473 name: Blast Crisis def: "An advanced phase of chronic myelogenous leukemia, characterized by a rapid increase in the proportion of immature white blood cells (blasts) in the blood and bone marrow to greater than 30%." [MESH:D001752] synonym: "Blast Crises" EXACT [] synonym: "Blast Phase" EXACT [] synonym: "Blast Phases" EXACT [] xref: EFO:1000131 xref: MESH:D001752 is_a: DOID:8552 ! chronic myeloid leukemia is_a: DOID:9007608 ! Neoplastic Cell Transformation [Term] id: DOID:9002474 name: Isolated Microphthalmia with Cataract 4 synonym: "MCOPCT4" EXACT [] xref: MESH:C566480 is_a: DOID:0080637 ! isolated microphthalmia is_a: DOID:83 ! cataract [Term] id: DOID:9002476 name: Infantile Nephropathic Cystinosis alt_id: RDO:0014234 xref: MESH:C565655 is_a: DOID:1064 ! cystinosis [Term] id: DOID:9002477 name: Deafness-Infertility Syndrome synonym: "Chromosome 15q15.3 Deletion Syndrome" EXACT [] synonym: "DIS" EXACT [] synonym: "Sensorineural Deafness and Male Infertility" EXACT [] xref: MESH:C567010 xref: MIM:611102 xref: MONDO:0012621 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:12336 ! male infertility [Term] id: DOID:9002479 name: Otofaciocervical Syndrome 2 synonym: "OCULO-AURICULO-VERTEBRAL SPECTRUM" EXACT [] synonym: "OFC2" EXACT [] synonym: "OTFCS2" EXACT [] xref: MIM:615560 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:9002480 name: Hydrocephalus, Endocardial Fibroelastosis, and Cataracts alt_id: MIM:600559 synonym: "communicating hydrocephalus, endocardial fibroelastosis (EFE) and congenital cataracts" EXACT [] synonym: "HEC syndrome" EXACT [] xref: MESH:C535855 is_a: DOID:10908 ! hydrocephalus is_a: DOID:12929 ! endocardial fibroelastosis is_a: DOID:83 ! cataract [Term] id: DOID:9002482 name: Mitochondrial Myopathy with Diabetes alt_id: MIM:500002 synonym: "Mitochondrial Myopathy, Lipid Type" EXACT [] xref: MESH:C564026 is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9002483 name: Polycystic Ovarian Disease due to 17-Ketosteroid Reductase Deficiency xref: MESH:C564868 is_a: DOID:11612 ! polycystic ovary syndrome [Term] id: DOID:9002484 name: Maxillary Diseases def: "Diseases involving the MAXILLA." [MESH:D008439] synonym: "Maxillary Disease" EXACT [] xref: MESH:D008439 is_a: DOID:9003876 ! Jaw Diseases [Term] id: DOID:9002485 name: Epiphyseal Dysplasia, Baumann Type alt_id: MIM:610797 xref: MESH:C563664 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9002486 name: Idiopathic Generalized Epilepsy 18 synonym: "EIG18" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 18" RELATED [] xref: MIM:619521 is_a: DOID:1827 ! idiopathic generalized epilepsy created_by: mtutaj creation_date: 2021-09-14T16:20:43Z [Term] id: DOID:9002487 name: Trueb Burg Bottani Syndrome synonym: "Ectodermal dysplasia with corkscrew hairs" EXACT [] synonym: "Tricho-odonto-onychodysplasia with syndactyly" EXACT [] xref: MESH:C536565 is_a: DOID:0050472 ! monilethrix is_a: DOID:11193 ! syndactyly is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:9002488 name: Peritoneal Fibrosis def: "Disorder characterized by a wide range of structural changes in PERITONEUM, resulting from fibrogenic or inflammatory processes. Peritoneal fibrosis is a common complication in patients receiving PERITONEAL DIALYSIS and contributes to its gradual decrease in efficiency." [MESH:D056627] synonym: "Encapsulating Peritoneal Scleroses" EXACT [] synonym: "Encapsulating Peritoneal Sclerosis" EXACT [] synonym: "Peritoneal Fibroses" EXACT [] synonym: "Peritoneal Fibrosing Syndrome" EXACT [] synonym: "Peritoneal Fibrosing Syndromes" EXACT [] synonym: "Peritoneal Scleroses" EXACT [] synonym: "Peritoneal Sclerosis" EXACT [] xref: EFO:1001394 xref: MESH:D056627 xref: RDO:0007745 is_a: DOID:9000784 ! Fibrosis is_a: DOID:9006175 ! Peritoneal Diseases [Term] id: DOID:9002489 name: Genochondromatosis alt_id: MIM:137360 xref: MESH:C563215 is_a: DOID:9000685 ! Chondromatosis is_a: DOID:9004389 ! Bone Neoplasms is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9002490 name: Benign Recurrent Vertigo 1 alt_id: MIM:193007 synonym: "BRV1" EXACT [] xref: MESH:C567620 is_a: DOID:13941 ! benign paroxysmal positional vertigo [Term] id: DOID:9002491 name: Pre-Excitation Syndromes def: "A group of conditions in which HEART VENTRICLE activation by the atrial impulse is faster than the normal impulse conduction from the SINOATRIAL NODE. In these pre-excitation syndromes, atrial impulses often bypass the ATRIOVENTRICULAR NODE delay and travel via ACCESSORY CONDUCTING PATHWAYS connecting the atrium directly to the BUNDLE OF HIS." [MESH:D011226] synonym: "Pre-Excitation Syndrome" EXACT [] synonym: "Preexcitation Syndrome" EXACT [] synonym: "Preexcitation Syndromes" EXACT [] xref: MESH:D011226 is_a: DOID:225 ! syndrome is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9002492 name: Auriculocondylar Syndrome 1 synonym: "ARCND1" EXACT [] xref: MIM:602483 is_a: DOID:9000208 ! Auriculocondylar Syndrome [Term] id: DOID:9002493 name: Ocular Neovascularization def: "Formation of new blood vessels invading the cornea, the retina, or the choroid." [] synonym: "neovascularization within the eye" EXACT [] xref: RDO:9001268 is_a: DOID:5614 ! eye disease is_a: DOID:9003204 ! Neovascularization, Pathologic created_by: rgd creation_date: 2016-10-14T00:00:00Z [Term] id: DOID:9002494 name: Mitochondrial Myopathy with Lactic Acidosis alt_id: MIM:251950 synonym: "EXERCISE INTOLERANCE, MUSCLE PAIN, AND LACTIC ACIDEMIA" NARROW [] synonym: "MMLA" EXACT [] xref: MESH:C537476 is_a: DOID:0060140 ! cortical deafness is_a: DOID:3650 ! lactic acidosis is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002495 name: Fitzsimmons Walson Mellor Syndrome xref: MESH:C537937 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:2986 ! IgA glomerulonephritis is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:9002496 name: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia synonym: "congenital thrombocytopenia with radioulnar synostosis" EXACT [] synonym: "CTRUS" EXACT [] synonym: "RUSAT" EXACT [] xref: MESH:C565328 xref: MIM:PS605432 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:9827 ! radioulnar synostosis [Term] id: DOID:9002497 name: Immune Suppression synonym: "IS" EXACT [] synonym: "ISCW" EXACT [] synonym: "ISSCW" EXACT [] synonym: "suppression of immune response to streptococcal cell wall antigen" EXACT [] xref: MIM:146850 is_a: DOID:2914 ! immune system disease is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:9002498 name: Wallerian Degeneration def: "Degeneration of distal aspects of a nerve axon following injury to the cell body or proximal portion of the axon. The process is characterized by fragmentation of the axon and its MYELIN SHEATH." [MESH:D014855] xref: MESH:D014855 is_a: DOID:9002955 ! Nerve Degeneration [Term] id: DOID:9002500 name: Hearing Disorders def: "Conditions that impair the transmission of auditory impulses and information from the level of the ear to the temporal cortices, including the sensorineural pathways." [MESH:D006311] synonym: "Distorted Hearing" EXACT [] synonym: "Dysacusis" EXACT [] synonym: "Hearing Disorder" EXACT [] synonym: "Paracousis" EXACT [] synonym: "Paracusis" EXACT [] xref: MESH:D006311 is_a: DOID:0050155 ! sensory system disease is_a: DOID:2742 ! auditory system disease [Term] id: DOID:9002501 name: Roseolovirus Infections def: "Infection with ROSEOLOVIRUS, the most common in humans being EXANTHEMA SUBITUM, a benign disease of infants and young children." [MESH:D019349] synonym: "Roseolovirus Infection" EXACT [] xref: EFO:0007474 xref: MESH:D019349 is_a: DOID:9002834 ! Herpesviridae Infections [Term] id: DOID:9002502 name: Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Cataracts synonym: "HDBSCC" EXACT [] xref: MIM:613730 xref: RDO:0009957 is_a: DOID:182 ! calcinosis is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:83 ! cataract [Term] id: DOID:9002503 name: Neutropenic Enterocolitis alt_id: RDO:0007510 def: "A syndrome characterized by inflammation in the ILEUM, the CECUM, and the ASCENDING COLON. It is observed in cancer patients with CHEMOTHERAPY-induced NEUTROPENIA or in other immunocompromised individuals (IMMUNOCOMPROMISED HOST)." [MESH:D044504] synonym: "Ileocecal Syndrome" EXACT [] xref: EFO:1001816 xref: MESH:D044504 is_a: DOID:225 ! syndrome is_a: DOID:9002805 ! Enterocolitis [Term] id: DOID:9002504 name: Odontogenic Cysts def: "Cysts found in the jaws and arising from epithelium involved in tooth formation. They include follicular cysts (e.g., primordial cyst, dentigerous cyst, multilocular cyst), lateral periodontal cysts, and radicular cysts. They may become keratinized (odontogenic keratocysts). Follicular cysts may give rise to ameloblastomas and, in rare cases, undergo malignant transformation." [MESH:D009807] synonym: "Keratocyst" EXACT [] synonym: "Keratocysts" EXACT [] synonym: "Odontogenic Cyst" EXACT [] xref: EFO:1000406 xref: MESH:D009807 is_a: DOID:9004816 ! Jaw Cysts [Term] id: DOID:9002505 name: Wilms Tumor 3 alt_id: MIM:194090 synonym: "WT3" EXACT [] xref: MESH:C565991 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:9002507 name: Lymphatic Malformation 12 def: "A disease characterized by abnormalities in the development and function of major truncal lymphatic vessels, causing nonimmune hydrops fetalis that results in stillbirth in some cases. Caused by homozygous or compound heterozygous mutation in the MDFIC gene on chromosome 7q31." [MIM:620014] synonym: "LMPHM12" EXACT [] xref: MIM:620014 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:9008386 ! Hydrops Fetalis created_by: mtutaj creation_date: 2022-08-24T09:52:53Z [Term] id: DOID:9002508 name: Immunodeficiency 87 and Autoimmunity def: "An autosomal recessive immunologic disorder with wide phenotypic variation and severity. Caused by homozygous mutation in the DEF6 gene on chromosome 6p21. (OMIM)" [] synonym: "DEF6-RELATED CONDITION" EXACT [] synonym: "IMD87" EXACT [] xref: MIM:619573 is_a: DOID:417 ! autoimmune disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-10-27T16:55:05Z [Term] id: DOID:9002509 name: Kosaki Overgrowth Syndrome def: "Characterized by tallness, with elongated lower segment, hands, and feet, with a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals also have hyperelastic and fragile skin, plus progressive neurologic deterioration. (OMIM)" [] synonym: "KOGS" EXACT [] synonym: "skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration" EXACT [] xref: MIM:616592 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-05-01T00:00:00Z [Term] id: DOID:9002510 name: Focal Epilepsy with Speech Disorder and with or without Mental Retardation synonym: "ADRESD" NARROW [] synonym: "APHASIA, ACQUIRED, WITH EPILEPSY LANDAU-KLEFFNER SYNDROME" NARROW [] synonym: "BECTS" NARROW [] synonym: "BENIGN EPILEPSY OF CHILDHOOD WITH CENTROTEMPORAL SPIKES" NARROW [] synonym: "CONTINUOUS SPIKE AND WAVES DURING SLOW-WAVE SLEEP SYNDROME" NARROW [] synonym: "CSWS" NARROW [] synonym: "CSWSS" NARROW [] synonym: "DYSTONIA, INTELLECTUAL DISABILITY AND LANGUAGE IMPAIRMENT" NARROW [] synonym: "FESD" EXACT [] synonym: "focal epilepsy with speech disorder and with or without impaired intellectual development" EXACT [] synonym: "focal epilepsy with speech disorder with or without mental retardation" EXACT [] synonym: "LKS" NARROW [] synonym: "RESDAD" NARROW [] synonym: "Rolandic epilepsy, mental retardation, and speech dyspraxia, autosomal dominant" NARROW [] xref: MIM:245570 xref: NCI:C168598 is_a: DOID:1059 ! intellectual disability is_a: DOID:2234 ! focal epilepsy is_a: DOID:92 ! speech disorder [Term] id: DOID:9002511 name: Prolonged Bleeding Time, Brachydactyly, and Mental Retardation xref: MESH:C564207 xref: RDO:0013246 is_a: DOID:0050581 ! brachydactyly is_a: DOID:1059 ! intellectual disability is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:9002512 name: Postherpetic Neuralgia alt_id: RDO:0007582 def: "Pain in nerves, frequently involving facial SKIN, resulting from the activation the latent varicella-zoster virus (HERPESVIRUS 3, HUMAN). The two forms of the condition preceding the pain are HERPES ZOSTER OTICUS; and HERPES ZOSTER OPHTHALMICUS. Following the healing of the rashes and blisters, the pain sometimes persists." [MESH:D051474] xref: MESH:D051474 is_a: DOID:9005968 ! Neuralgia [Term] id: DOID:9002513 name: Hypoproteinemia def: "A condition in which total serum protein level is below the normal range. Hypoproteinemia can be caused by protein malabsorption in the gastrointestinal tract, EDEMA, or PROTEINURIA." [MESH:D007019] synonym: "Hypoproteinemias" EXACT [] xref: MESH:D007019 is_a: DOID:620 ! blood protein disease [Term] id: DOID:9002514 name: Neointima def: "The new and thickened layer of scar tissue that forms on a PROSTHESIS, or as a result of vessel injury especially following ANGIOPLASTY or stent placement." [MESH:D058426] synonym: "Neointima Formation" EXACT [] synonym: "Neointimas" EXACT [] xref: MESH:D058426 is_a: DOID:9004611 ! Pathologic Processes is_a: DOID:9005396 ! Intimal Hyperplasia [Term] id: DOID:9002515 name: Rheumatoid Nodule alt_id: MIM:180350 def: "Subcutaneous nodules seen in 20-30% of rheumatoid arthritis patients. They may arise anywhere on the body, but are most frequently found over the bony prominences. The nodules are characterized histologically by dense areas of fibrinoid necrosis with basophilic streaks and granules, surrounded by a palisade of cells, mainly fibroblasts and histiocytes." [MESH:D012218] synonym: "Rheumatoid Nodules" EXACT [] synonym: "Rheumatoid Noduloses" EXACT [] synonym: "Rheumatoid Nodulosis" EXACT [] xref: MESH:D012218 is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:9002516 name: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS def: "This disease is an autosomal recessive complex neurologic disorder characterized by delay of gross motor milestones, particularly walking, associated with axial hypotonia and peripheral spasticity apparent from infancy or early childhood. Affected individuals often show transient opisthotonic posturing in infancy, and later show abnormal involuntary movements, including chorea, dystonia, and dyspraxia. The disorder is nonprogressive, and many patients may catch up developmentally in the second or third decades" [MIM:619653] synonym: "NEDSTO" EXACT [] synonym: "Non-progressive neurodevelopmental disorder with spasticity and transient opisthotonus" EXACT [] xref: MIM:619653 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2022-02-11T17:48:42Z [Term] id: DOID:9002517 name: Early-Onset Sarcoidosis alt_id: RDO:0012902 xref: MESH:C563714 is_a: DOID:11335 ! sarcoidosis [Term] id: DOID:9002518 name: Infectious Myxomatosis def: "Diseases caused by MYXOMA VIRUS." [MESH:D009234] synonym: "Infectious Myxomatoses" EXACT [] xref: EFO:0007327 xref: MESH:D009234 is_a: DOID:8729 ! milker's nodule is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9002519 name: Intestinal Polyposis with Multiple Exostoses alt_id: MIM:175450 xref: MESH:C566776 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:9001030 ! Multiple Primary Neoplasms [Term] id: DOID:9002520 name: Acrorenal Mandibular Syndrome alt_id: MIM:200980 synonym: "Acro-renal-uterine-mandibular syndrome" EXACT [] synonym: "Acrorenal-Uterine-Mandibular Syndrome" EXACT [] synonym: "Split hand and split foot with mandibular hypoplasia" EXACT [] xref: MESH:C535665 is_a: DOID:225 ! syndrome is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:9002521 name: Left Ventricular Noncompaction 2 alt_id: RDO:0009323 synonym: "LVNC2" EXACT [] xref: MIM:609470 is_a: DOID:0060480 ! left ventricular noncompaction [Term] id: DOID:9002522 name: Embolism def: "Blocking of a blood vessel by an embolus which can be a blood clot or other undissolved material in the blood stream." [MESH:D004617] synonym: "Embolisms" EXACT [] synonym: "Embolus" EXACT [] xref: MESH:D004617 is_a: DOID:9001268 ! Embolism and Thrombosis [Term] id: DOID:9002523 name: Uterine Perforation def: "A hole or break through the wall of the UTERUS, usually made by the placement of an instrument or INTRAUTERINE DEVICES." [MESH:D014595] synonym: "Uterine Perforations" EXACT [] xref: MESH:D014595 xref: RDO:0006795 is_a: DOID:9003146 ! Uterine Rupture [Term] id: DOID:9002524 name: Asparagine Synthetase Deficiency synonym: "ASNSD" EXACT [] synonym: "ASNS Deficiency" EXACT [] synonym: "ASNS-RELATED CONDITION" EXACT [] xref: MIM:615574 xref: NCI:C168586 is_a: DOID:10907 ! microcephaly is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9002525 name: Hereditary Eye Diseases def: "Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder." [MESH:D015785] synonym: "Hereditary Eye Disease" EXACT [] xref: MESH:D015785 is_a: DOID:5614 ! eye disease is_a: DOID:630 ! genetic disease [Term] id: DOID:9002526 name: Febrile Ulceronecrotic Mucha-Habermann Disease synonym: "Ulceronecrotic Mucha-Habermann disease" EXACT [] xref: MESH:C537077 is_a: DOID:8566 ! herpes simplex is_a: DOID:9002354 ! Pityriasis Lichenoides [Term] id: DOID:9002527 name: Edinburgh Malformation Syndrome alt_id: MIM:129850 xref: MESH:C563051 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:9001276 ! Failure to Thrive is_a: DOID:9001487 ! Facies is_a: DOID:9004814 ! Chromosome Aberrations is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9002528 name: Deletion 6q16 q21 synonym: "Monosomy 6q16 q21" EXACT [] xref: MESH:C538207 xref: RDO:0004150 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9002529 name: Bacteroidaceae Infections alt_id: RDO:0004970 def: "Infections with bacteria of the family BACTEROIDACEAE." [MESH:D016866] synonym: "Bacteroidaceae Infection" EXACT [] synonym: "Bacteroidaceae infectious disease" EXACT [] synonym: "commensal Bacteroidaceae infectious disease" EXACT [] xref: EFO:1000872 xref: MESH:D016866 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9002530 name: pontocerebellar hypoplasia type 17 def: "A severe autosomal recessive developmental disorder characterized by neonatal hypotonia, severe feeding difficulties, and respiratory insufficiency. Caused by homozygous mutation in the PRDM13 gene on chromosome 6q16." [MIM:619909] synonym: "PCH17" EXACT [] synonym: "PRDM13-RELATED CONDITION" BROAD [] xref: MIM:619909 is_a: DOID:0060264 ! pontocerebellar hypoplasia created_by: mtutaj creation_date: 2022-06-13T11:35:24Z [Term] id: DOID:9002531 name: Buschke-Lowenstein Tumor def: "Exophytic tumor of the anogenital region associated with HPV infections. It becomes a large cauliflower-like, hyperkeratotic, verrucous mass that is locally destructive with little atypical cells. Histologically, tumor cells are broad rete peg structures that tend to invade deeper than CONDYLOMATA ACUMINATA." [MESH:D062688] synonym: "Anogenital Type Verrucous Carcinoma" EXACT [] synonym: "Buschke Löwenstein Tumor" EXACT [] synonym: "Giant Condyloma Acuminatum" EXACT [] synonym: "Giant Condyloma Acuminatums" EXACT [] synonym: "Giant Condyloma of Buschke and Lowenstein" EXACT [] synonym: "Giant Condyloma of Buschke and Löwenstein" EXACT [] xref: MESH:D062688 is_a: DOID:11168 ! anogenital venereal wart is_a: DOID:3737 ! verrucous carcinoma [Term] id: DOID:9002532 name: Neonatal Hyperbilirubinemia def: "Accumulation of BILIRUBIN, a breakdown product of HEME PROTEINS, in the BLOOD during the first weeks of life. This may lead to NEONATAL JAUNDICE. The excess bilirubin may exist in the unconjugated (indirect) or the conjugated (direct) form. The condition may be self-limiting (PHYSIOLOGICAL NEONATAL JAUNDICE) or pathological with toxic levels of bilirubin." [MESH:D051556] synonym: "During Infancies, Hyperbilirubinemia" EXACT [] synonym: "Hyperbilirubinemia During Infancy" EXACT [] synonym: "Neonatal Direct Hyperbilirubinemia" EXACT [] synonym: "Neonatal Indirect Hyperbilirubinemia" EXACT [] xref: MESH:D051556 is_a: DOID:2741 ! bilirubin metabolic disorder is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9002533 name: Rectum Carcinoma synonym: "rectal carcinoma" EXACT [] xref: EFO:0002915 xref: MONDO:0044937 xref: NCI:C134779 is_a: DOID:1993 ! rectum cancer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9002534 name: Acne Keloid def: "A type of acneiform disorder in which secondary pyogenic infection in and around pilosebaceous structures ends in keloidal scarring. It manifests as persistent folliculitis of the back of the neck associated with occlusion of the follicular orifices. It is most often encountered in black or Asian men." [MESH:D000153] synonym: "Acne Keloidalis" EXACT [] synonym: "Acne Keloids" EXACT [] synonym: "Dermatitis Papillaris Capillitii" EXACT [] synonym: "Dermatitis Papillaris Capillitius" EXACT [] synonym: "Folliculitis Keloidalis" EXACT [] synonym: "Folliculitis Keloidalis Nuchae" EXACT [] synonym: "Keloidal Acne" EXACT [] synonym: "Keloidal Acnes" EXACT [] synonym: "Lichen Keloidalis Nuchae" EXACT [] synonym: "Nuchal Keloid Acne" EXACT [] synonym: "Nuchal Keloid Acnes" EXACT [] xref: MESH:D000153 is_a: DOID:4409 ! folliculitis is_a: DOID:9000058 ! Keloid is_a: DOID:9001519 ! Acneiform Eruptions [Term] id: DOID:9002535 name: Cataract, Autosomal Recessive Congenital 1 xref: MESH:C565136 xref: RDO:0013863 is_a: DOID:83 ! cataract [Term] id: DOID:9002536 name: POIRIER-BIENVENU NEURODEVELOPMENTAL SYNDROME def: "A neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development ." [MIM:618732] synonym: "CSNK2B-RELATED INTELLECTUAL DISABILITY WITH OR WITHOUT EPILEPSY" EXACT [] synonym: "POBINDS" EXACT [] xref: MIM:618732 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2020-02-17T10:59:46Z [Term] id: DOID:9002537 name: Air Embolism def: "Blocking of a blood vessel by air bubbles that enter the circulatory system, usually after TRAUMA; surgical procedures, or changes in atmospheric pressure." [MESH:D004618] synonym: "Air Embolisms" EXACT [] synonym: "Gas Embolism" EXACT [] synonym: "Gas Embolisms" EXACT [] xref: MESH:D004618 is_a: DOID:9002522 ! Embolism [Term] id: DOID:9002538 name: Gay Feinmesser Cohen Syndrome synonym: "Laryngeal web, congenital heart disease and low stature" EXACT [] synonym: "Subglottic bar, congenital heart disease and low stature" EXACT [] xref: MESH:C537676 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002539 name: Glomus Tympanicum Tumor def: "A rare PARAGANGLIOMA involving the GLOMUS TYMPANICUM, a collection of chemoreceptor tissue adjacent to the TYMPANIC CAVITY. It can cause TINNITUS and conductive hearing loss (HEARING LOSS, CONDUCTIVE)." [MESH:D043604] synonym: "Glomus Tympanicum Tumors" EXACT [] xref: MESH:D043604 is_a: DOID:0050773 ! paraganglioma [Term] id: DOID:9002540 name: Mitochondrial Neurodevelopmental Disorder, with Abnormal Movements and Lactic Acidosis, with or without Seizures def: "An autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity." [MIM:617710] synonym: "mitochondrial neurodevelopmental disorder with abnormal movements and lactic acidosis and with or without seizures" EXACT [] synonym: "NEMMLAS" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES" EXACT [] synonym: "WARS2-RELATED CONDITION" BROAD [] synonym: "WARS2-RELATED DISORDER" BROAD [] xref: MIM:617710 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:9002541 name: Isolated Microphthalmia with Cataract 1 alt_id: MIM:156850 synonym: "CATM" EXACT [] synonym: "congenital cataract with microphthalmia" EXACT [] synonym: "MCOPCT1" EXACT [] xref: MESH:C563582 is_a: DOID:0080637 ! isolated microphthalmia is_a: DOID:83 ! cataract [Term] id: DOID:9002542 name: Hidrotic Ectodermal Dysplasia, Autosomal Recessive alt_id: RDO:0014876 xref: MESH:C566553 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9002543 name: Myopathy with Abnormal Lipid Metabolism alt_id: MIM:255100 synonym: "FLAD1-RELATED CONDITION" EXACT [] synonym: "Lipid Storage Myopathy" EXACT [] synonym: "LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY" EXACT [] synonym: "LSMFLAD" EXACT [] xref: MESH:C562935 xref: RDO:0012437 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9002544 name: Chang Davidson Carlson Syndrome alt_id: RDO:0004008 xref: MESH:C538075 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome [Term] id: DOID:9002545 name: Odontochondrodysplasia 2 with Hearing Loss and Diabetes synonym: "ODCD2" EXACT [] xref: MIM:619269 is_a: DOID:9003789 ! Odontochondrodysplasia is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9351 ! diabetes mellitus created_by: mtutaj creation_date: 2021-04-13T14:01:07Z [Term] id: DOID:9002546 name: Eosinophilic Granuloma def: "The most benign and common form of Langerhans-cell histiocytosis which involves localized nodular lesions predominantly of the bones but also of the gastric mucosa, small intestine, lungs, or skin, with infiltration by EOSINOPHILS." [MESH:D004803] synonym: "eosinophilic granulomas" EXACT [] xref: MESH:D004803 xref: NCI:C3016 is_a: DOID:0080001 ! bone disease is_a: DOID:2571 ! Langerhans-cell histiocytosis is_a: DOID:9001371 ! Eosinophilia is_a: DOID:9002019 ! Granuloma [Term] id: DOID:9002547 name: Sitosterolemia 1 synonym: "ABCG8-RELATED CONDITION" BROAD [] synonym: "Mediterranean macrothrombocytopenia-stomatocytosis" NARROW [] synonym: "Mediterranean phytosterolemia macrothrombocytopenia/stomatocytosis" NARROW [] synonym: "STSL1" EXACT [] xref: MIM:210250 is_a: DOID:0090019 ! sitosterolemia created_by: mtutaj creation_date: 2019-11-20T11:33:45Z [Term] id: DOID:9002548 name: Lipoma of the Conjunctiva alt_id: MIM:151700 xref: MESH:C563620 is_a: DOID:3315 ! lipoma is_a: DOID:9008245 ! Conjunctival Neoplasms [Term] id: DOID:9002549 name: Shock def: "A pathological condition manifested by failure to perfuse or oxygenate vital organs." [MESH:D012769] synonym: "Circulatory Collapse" EXACT [] synonym: "Circulatory Failure" EXACT [] synonym: "Hypovolemic Shock" EXACT [] xref: MESH:D012769 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9002550 name: Bites and Stings def: "Injuries inflicted by the TEETH or poisoning caused by VENOMS of animals." [MESH:D001733] synonym: "Bite" EXACT [] synonym: "bites" EXACT [] synonym: "Sting" EXACT [] synonym: "stings" EXACT [] xref: MESH:D001733 is_a: DOID:9000046 ! Poisoning is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9002552 name: Cowden-Like Syndrome alt_id: RDO:0015433 synonym: "COWDEN SYNDROME 2" EXACT [] synonym: "CWS2" EXACT [] xref: MESH:C567337 is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome is_a: DOID:225 ! syndrome is_a: DOID:6457 ! Cowden syndrome is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9002553 name: Anaplastic Plasmacytoma synonym: "anaplastic skeletal plasmacytoma" EXACT [] synonym: "anaplastic solitary extramedullary plasmacytoma of the cecum" EXACT [] synonym: "extramedullary anaplastic plasmacytoma" EXACT [] xref: MESH:C537514 is_a: DOID:3721 ! plasmacytoma [Term] id: DOID:9002554 name: Tachycardia def: "Abnormally rapid heartbeat, usually with a HEART RATE above 100 beats per minute for adults. Tachycardia accompanied by disturbance in the cardiac depolarization (cardiac arrhythmia) is called tachyarrhythmia." [MESH:D013610] synonym: "Tachyarrhythmia" EXACT [] synonym: "Tachyarrhythmias" EXACT [] synonym: "Tachycardias" EXACT [] xref: MESH:D013610 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9002555 name: Cardiac, Facial, and Digital Anomalies with Developmental Delay synonym: "CAFDADD" EXACT [] synonym: "TRAF7-ASSOCIATED HEART DEFECT-DIGITAL ANOMALIES-FACIAL DYSMORPHISM-MOTOR AND SPEECH DELAY SYNDROME" EXACT [] synonym: "TRAF7-RELATED DEVELOPMENTAL DELAY, CONGENITAL ANOMALIES, AND DYSMORPHIC FEATURES" EXACT [] synonym: "TRAF7-RELATED DISORDER" EXACT [] synonym: "TRAF7-RELATED SYNDROME" EXACT [] xref: MIM:618164 xref: NCI:C179868 is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2019-01-11T10:19:34Z [Term] id: DOID:9002556 name: villitis def: "This is an Inflammatory process that involves the chorionic villi of the placenta." [EFO:0003110] synonym: "inflammation of chorionic villi" EXACT [] synonym: "placental villitis" EXACT [] synonym: "villositis" EXACT [] xref: EFO:0003110 is_a: DOID:0050697 ! chorioamnionitis created_by: slaulede creation_date: 2022-10-18T13:18:38Z [Term] id: DOID:9002557 name: Inherited Blood Coagulation Disease alt_id: DOID:2214 def: "Hemorrhagic and thrombotic disorders that occur as a consequence of inherited abnormalities in blood coagulation." [] synonym: "hereditary blood coagulation disorders" EXACT [] synonym: "hereditary coagulation disorder" EXACT [] synonym: "hereditary coagulation disorders" EXACT [] synonym: "inherited blood coagulation diseases" EXACT [] synonym: "inherited blood coagulation disorders" EXACT [] synonym: "inherited coagulation disorder" EXACT [] synonym: "inherited coagulation disorders" EXACT [] xref: MESH:D025861 xref: MIM:PS277450 xref: ORDO:98429 is_a: DOID:1247 ! blood coagulation disease created_by: mtutaj creation_date: 2020-07-23T17:57:05Z [Term] id: DOID:9002558 name: Acute Intermittent Porphyria, Nonerythroid Variant xref: MESH:C566769 is_a: DOID:3890 ! acute intermittent porphyria [Term] id: DOID:9002560 name: Penetrating Eye Injuries def: "Deeply perforating or puncturing type intraocular injuries." [MESH:D015807] synonym: "Penetrating Eye Injury" EXACT [] xref: EFO:1001323 xref: MESH:D015807 is_a: DOID:9000656 ! Penetrating Wounds is_a: DOID:9006447 ! Eye Injuries [Term] id: DOID:9002561 name: Sandhaus Ben-Ami Syndrome synonym: "Patella hypoplasia skeletal malformations" EXACT [] xref: MESH:C537233 is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002562 name: Maccario Mena Weir Syndrome alt_id: RDO:0003224 synonym: "neuroaxonal dystrophy, renal tubular acidosis" EXACT [] xref: MESH:C537386 is_a: DOID:14219 ! renal tubular acidosis is_a: DOID:225 ! syndrome is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:9002563 name: Gait Ataxia def: "Impairment of the ability to coordinate the movements required for normal ambulation (WALKING) which may result from impairments of motor function or sensory feedback. This condition may be associated with BRAIN DISEASES (including CEREBELLAR DISEASES and BASAL GANGLIA DISEASES); SPINAL CORD DISEASES; or PERIPHERAL NERVOUS SYSTEM DISEASES." [MESH:D020234] synonym: "Ataxia of Gait" EXACT [] synonym: "Cerebellar Gait" EXACT [] synonym: "Cerebellar Gait Ataxia" EXACT [] synonym: "Cerebellar Gait Ataxias" EXACT [] synonym: "Cerebellar Gaits" EXACT [] synonym: "Gait Ataxias" EXACT [] synonym: "Sensory Gait Ataxia" EXACT [] synonym: "Sensory Gait Ataxias" EXACT [] xref: MESH:D020234 is_a: DOID:9004866 ! Ataxia is_a: DOID:9006230 ! Neurologic Gait Disorders [Term] id: DOID:9002564 name: Arteritis def: "INFLAMMATION of any ARTERIES." [MESH:D001167] synonym: "Arterial Inflammation" EXACT [] synonym: "Arteritides" EXACT [] xref: EFO:0009011 xref: MESH:D001167 is_a: DOID:865 ! vasculitis [Term] id: DOID:9002565 name: Partial Epilepsy with Pericentral Spikes alt_id: MIM:607221 synonym: "EPPS" EXACT [] synonym: "PEPS" EXACT [] xref: MESH:C564605 is_a: DOID:2234 ! focal epilepsy [Term] id: DOID:9002566 name: Gastric Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the stomach, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "gastric ischemia/reperfusion injury" EXACT [] synonym: "stomach ischemia/reperfusion injury" EXACT [] xref: RDO:9001728 is_a: DOID:9004009 ! Reperfusion Injury is_a: DOID:9006653 ! Gastric Ischemia created_by: rgd creation_date: 2017-06-26T00:00:00Z [Term] id: DOID:9002568 name: Diencephalic-Mesencephalic Junction Dysplasia Syndrome 1 synonym: "DMJDS1" EXACT [] synonym: "microcephaly, seizures, spasticity, and brain calcification" EXACT [] synonym: "MISSBC" EXACT [] xref: MIM:251280 is_a: DOID:10907 ! microcephaly is_a: DOID:9002171 ! Diencephalic-Mesencephalic Junction Dysplasia Syndromes created_by: mtutaj creation_date: 2019-10-31T12:25:19Z [Term] id: DOID:9002569 name: Overweight def: "A status with BODY WEIGHT that is above certain standard of acceptable or desirable weight. In the scale of BODY MASS INDEX, overweight is defined as having a BMI of 25.0-29.9 kg/m2. Overweight may or may not be due to increases in body fat (ADIPOSE TISSUE), hence overweight does not equal 'over fat'." [MESH:D050177] xref: MESH:D050177 is_a: DOID:9007633 ! Body Weight [Term] id: DOID:9002570 name: Mirror Movements 1 synonym: "BIMANUAL SYNERGIA" EXACT [] synonym: "congenital mirror movements" EXACT [] synonym: "DEVELOPMENTAL SPLIT BRAIN SYNDROME" EXACT [] synonym: "MIRROR MOVEMENTS 1 AND/OR AGENESIS OF THE CORPUS CALLOSUM" EXACT [] synonym: "MRMV1" EXACT [] xref: MIM:157600 is_a: DOID:0111153 ! congenital mirror movement disorder is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9002571 name: Aicardi-Goutieres Syndrome 7 def: "An autosomal dominant inflammatory disorder characterized by severe neurologic impairment. (OMIM)" [] synonym: "AGS7" EXACT [] xref: MIM:615846 xref: NCI:C168585 is_a: DOID:0050629 ! Aicardi-Goutieres syndrome [Term] id: DOID:9002572 name: Meyenburg-Altherr-Uehlinger Syndrome synonym: "Ashkenazi syndrome" EXACT [] synonym: "Atrophic polychondritis, cartilagenous arthritic deafness syndrome" EXACT [] synonym: "Jaksch' syndrome" EXACT [] synonym: "Jaksch Wartenhorst's syndrome" EXACT [] synonym: "Von Jaksch Wartenhorst's syndrome" EXACT [] xref: MESH:C537574 xref: RDO:0003438 is_a: DOID:225 ! syndrome is_a: DOID:2556 ! relapsing polychondritis is_a: DOID:848 ! arthritis is_a: DOID:9008681 ! Deafness [Term] id: DOID:9002573 name: Nerve Tissue Neoplasms alt_id: RDO:0006101 def: "Neoplasms composed of nerve tissue. This concept does not refer to neoplasms located in the nervous system or its component nerves." [MESH:D009380] synonym: "Nerve Tissue Neoplasm" EXACT [] synonym: "Nervous Tissue Neoplasm" EXACT [] synonym: "Nervous Tissue Neoplasms" EXACT [] xref: MESH:D009380 is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9002574 name: Thrombocytopenia 3 alt_id: MIM:273900 synonym: "THC3" EXACT [] synonym: "Thrombocytopenia, Autosomal Recessive, 3" EXACT [] xref: MESH:C567487 is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9002575 name: Myeloperoxidase Deficiency alt_id: MIM:254600 alt_id: OMIA:002028 synonym: "MPOD" EXACT [] synonym: "MPO deficiency" EXACT [] xref: MESH:C562864 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9002576 name: Egg-Shaped Pupil alt_id: MIM:178800 xref: MESH:C566731 is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9002577 name: Halo Nevus alt_id: MIM:234300 def: "A benign skin lesion characterized by a zone of depigmentation surrounding the nevus." [MESH:D055882] synonym: "Halo Nevi" EXACT [] synonym: "Leukoderma Acquisitum Centrifugum of Sutton" EXACT [] xref: EFO:1000958 xref: MESH:D055882 is_a: DOID:9002969 ! Nevus [Term] id: DOID:9002578 name: Equine Encephalomyelitis def: "A group of ALPHAVIRUS INFECTIONS which affect horses and man, transmitted via the bites of mosquitoes. Disorders in this category are endemic to regions of South America and North America. In humans, clinical manifestations vary with the type of infection, and range from a mild influenza-like syndrome to a fulminant encephalitis. (From Joynt, Clinical Neurology, 1996, Ch26, pp8-10)" [MESH:D004683] synonym: "Equine Encephalitis" EXACT [] synonym: "Equine Encephalomyelitis Viral Infections" EXACT [] synonym: "Equine Encephalomyelitis Virus Infections" EXACT [] xref: MESH:D004683 is_a: DOID:640 ! encephalomyelitis is_a: DOID:646 ! viral encephalitis is_a: DOID:9007339 ! Alphavirus Infections is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:9002579 name: Palmoplantar Keratoderma, Vorner Type alt_id: RDO:0012079 synonym: "Epidermolytic Palmoplantar Keratoderma Vorner Type" EXACT [] xref: MESH:C567914 is_a: DOID:0080223 ! epidermolytic palmoplantar keratoderma [Term] id: DOID:9002580 name: Metatarsus Varus def: "A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel." [MESH:D000070592] synonym: "In Toeing" EXACT [] synonym: "Metatarsal Varus" EXACT [] synonym: "Metatarsus Adductovarus" EXACT [] synonym: "Metatarsus Adductus" EXACT [] synonym: "Pigeon Toed" EXACT [] xref: MESH:D000070592 xref: RDO:0016059 is_a: DOID:9003938 ! Foot Deformities [Term] id: DOID:9002581 name: Acrocephalopolydactylous Dysplasia alt_id: MIM:200995 synonym: "Elejalde syndrome" EXACT [] xref: MESH:C573722 is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002582 name: Primary Autosomal Recessive Microcephaly 23 synonym: "MCPH23" EXACT [] xref: MIM:617985 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: slaulede creation_date: 2018-06-19T13:27:53Z [Term] id: DOID:9002583 name: Camptobrachydactyly alt_id: MIM:114150 synonym: "Short foot-brachydactyly of toes, camptodactyly , brachydactyly" EXACT [] xref: MESH:C537967 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9002584 name: Benign Essential Blepharospasm alt_id: MIM:606798 synonym: "Essential Blepharospasm" EXACT [] synonym: "Eyelid Twitching" EXACT [] synonym: "Primary Blepharospasm" EXACT [] synonym: "Spasm of Eyelids" EXACT [] xref: MESH:C535428 xref: RDO:0000534 is_a: DOID:529 ! blepharospasm [Term] id: DOID:9002585 name: Opticocochleodentate Degeneration alt_id: MIM:258700 xref: MESH:C563002 is_a: DOID:12835 ! quadriplegia is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9008681 ! Deafness is_a: DOID:92 ! speech disorder [Term] id: DOID:9002586 name: Postcataract Aphakia alt_id: RDO:0004886 def: "Absence of the crystalline lens resulting from cataract extraction." [MESH:D001036] synonym: "Postcataract Aphakias" EXACT [] xref: MESH:D001036 is_a: DOID:9008804 ! Aphakia [Term] id: DOID:9002587 name: Silver-Russell Syndrome 4 def: "Silver-Russell syndrome caused by heterozygous mutation in the PLAG1 gene on chromosome 8q12." [MIM:618907 "RGD"] synonym: "PLAG1-RELATED CONDITION" BROAD [] synonym: "SRS4" EXACT [] xref: MIM:618907 is_a: DOID:14681 ! Silver-Russell syndrome created_by: mtutaj creation_date: 2020-06-15T13:55:11Z [Term] id: DOID:9002588 name: Cardiac Septal Defects with Coarctation of the Aorta alt_id: MIM:212090 xref: MESH:C565883 is_a: DOID:1681 ! heart septal defect is_a: DOID:9007908 ! Aortic Coarctation [Term] id: DOID:9002589 name: Bone Fractures def: "Breaks in bones." [MESH:D050723] synonym: "Bone Fracture" EXACT [] synonym: "Broken Bone" EXACT [] synonym: "Broken Bones" EXACT [] synonym: "foot fracture" NARROW [] synonym: "fracture of pelvis" NARROW [] synonym: "Recurrent fractures" NARROW [] synonym: "Spiral Fracture" NARROW [] synonym: "Spiral Fractures" NARROW [] synonym: "Torsion Fracture" NARROW [] synonym: "Torsion Fractures" NARROW [] xref: EFO:0003931 xref: EFO:0009618 xref: EFO:0009622 xref: MESH:D050723 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9002590 name: Porencephaly Cerebellar Hypoplasia Malformations alt_id: MIM:601322 synonym: "Porencephaly, cerebellar hypoplasia, and internal malformations" EXACT [] xref: MESH:C536336 is_a: DOID:0060263 ! porencephaly is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:9002591 name: Splenosis def: "The spontaneous transplantation of splenic tissue to unusual sites after open splenic trauma, e.g., after automobile accidents, gunshot or stab wounds. The splenic pulp implants appear as red-blue nodules on the peritoneum, omentum, and mesentery, morphologically similar to multifocal pelvic endometriosis. (Segen, Dictionary of Modern Medicine, 1992)" [MESH:D017890] synonym: "Splenoses" EXACT [] xref: MESH:D017890 is_a: DOID:9008835 ! Splenic Rupture [Term] id: DOID:9002592 name: refractory celiac disease def: "This is a complex autoimmune disorder much like the more common celiac disease but, unlike celiac disease, it is resistant or unresponsive to at least 12 months of treatment with a strict gluten-free diet." [https://rarediseases.org/rare-diseases/refractory-celiac-disease/] synonym: "intractable celiac sprue" EXACT [] synonym: "refractory CD" EXACT [] synonym: "refractory celiac disease" EXACT [] synonym: "type II refractory sprue" NARROW [] synonym: "type I refractory sprue" NARROW [] synonym: "unresponsive celiac disease" EXACT [] xref: EFO:0009266 is_a: DOID:10608 ! celiac disease created_by: slaulede creation_date: 2022-10-21T18:24:17Z [Term] id: DOID:9002593 name: Lethal Congenital Contracture Syndrome 8 def: "An axoglial form of arthrogryposis multiplex congenita, that is characterized by congenital distal joint contractures, reduced fetal movements, and severe motor paralysis leading to death early in the neonatal period. (OMIM)" [] synonym: "LCCS8" EXACT [] xref: MIM:616287 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:9002594 name: High Hyperopia alt_id: MIM:238950 xref: MESH:C565497 is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9834 ! hyperopia [Term] id: DOID:9002595 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES def: "This disease is characterized by global developmental delay apparent since infancy or early childhood, hypotonia with delayed motor development, impaired intellectual development with significant speech delay or absent speech, and variable behavioral abnormalities, such as autism, repetitive actions, or aggression." [MIM:619854] synonym: "NEDHISB" EXACT [] xref: MIM:619854 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:92 ! speech disorder created_by: slaulede creation_date: 2022-06-30T10:55:48Z [Term] id: DOID:9002596 name: Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly synonym: "NBAS-RELATED CONDITION" BROAD [] synonym: "SOPH" EXACT [] xref: MIM:614800 xref: RDO:9001073 is_a: DOID:1891 ! optic nerve disease is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9631 ! Pelger-Huet anomaly [Term] id: DOID:9002597 name: 2-Methylacetoacetyl CoA Thiolase Deficiency xref: MESH:C535307 xref: RDO:0000347 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9002598 name: Spastic Paraparesis def: "Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways." [MESH:D020336] synonym: "PROGRESSIVE SPASTIC PARAPARESIS" NARROW [] synonym: "Spastic Lower Extremity Weakness" EXACT [] synonym: "Spastic Parapareses" EXACT [] xref: MESH:D020336 is_a: DOID:9008173 ! Paraparesis [Term] id: DOID:9002599 name: Basal Ganglia Hemorrhage def: "Bleeding within the subcortical regions of cerebral hemispheres (BASAL GANGLIA). It is often associated with HYPERTENSION or ARTERIOVENOUS MALFORMATIONS. Clinical manifestations may include HEADACHE; DYSKINESIAS; and HEMIPARESIS." [MESH:D020145] synonym: "Basal Ganglionic Hemorrhage" EXACT [] synonym: "Hematoma, Basal Ganglia" EXACT [] xref: MESH:D020145 xref: RDO:0007316 is_a: DOID:10991 ! basal ganglia cerebrovascular disease is_a: DOID:9002676 ! Cerebral Hemorrhage [Term] id: DOID:9002600 name: Hydrocephalus with Cerebellar Agenesis alt_id: MIM:307010 xref: MESH:C564407 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10908 ! hydrocephalus [Term] id: DOID:9002601 name: Otofaciocervical Syndrome 1 alt_id: MIM:166780 synonym: "OFC" EXACT [] synonym: "OFC1" EXACT [] synonym: "Ofc Syndrome" EXACT [] synonym: "OTFCS" EXACT [] synonym: "otofaciocervical syndrome" EXACT [] synonym: "otofaciocervical syndrome 1" EXACT [] xref: MESH:C563481 is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:9002602 name: Chromosome 13p Duplication synonym: "Chromosome 13p, trisomy" EXACT [] synonym: "Duplication 13p" EXACT [] synonym: "Trisomy 13p" EXACT [] xref: MESH:C535450 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9002603 name: Terminal Transverse Defects of Arm xref: MESH:C565681 is_a: DOID:9004402 ! Congenital Upper Extremity Deformities is_a: DOID:9005644 ! Amniotic Band Syndrome [Term] id: DOID:9002604 name: Reducing Body Myopathies synonym: "reducing body myopathy" EXACT [] xref: GARD:12162 is_a: DOID:423 ! myopathy created_by: mtutaj creation_date: 2020-06-18T19:29:47Z [Term] id: DOID:9002605 name: Delayed Hypersensitivity alt_id: RDO:0002568 def: "An increased reactivity to specific antigens mediated not by antibodies but by cells." [MESH:D006968] synonym: "Delayed Hypersensitivities" EXACT [] synonym: "REDUCED DELAYED HYPERSENSITIVITY" NARROW [] synonym: "Tuberculin-Type Hypersensitivities" EXACT [] synonym: "Tuberculin Type Hypersensitivity" EXACT [] synonym: "Type IV Hypersensitivities" EXACT [] synonym: "Type IV Hypersensitivity" EXACT [] xref: MESH:D006968 is_a: DOID:1205 ! allergic disease [Term] id: DOID:9002606 name: Mycotoxicosis def: "Poisoning caused by the ingestion of mycotoxins (toxins of fungal origin)." [MESH:D015651] synonym: "Fungus Poisoning" EXACT [] synonym: "Fungus Poisonings" EXACT [] synonym: "Mycotoxicoses" EXACT [] xref: MESH:D015651 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9002607 name: Serotonin Syndrome def: "An adverse drug interaction characterized by altered mental status, autonomic dysfunction, and neuromuscular abnormalities. It is most frequently caused by use of both serotonin reuptake inhibitors and monoamine oxidase inhibitors, leading to excess serotonin availability in the CNS at the serotonin 1A receptor." [MESH:D020230] synonym: "Serotonin Syndromes" EXACT [] xref: EFO:1001842 xref: MESH:D020230 is_a: DOID:225 ! syndrome is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions [Term] id: DOID:9002608 name: Spinal Curvatures def: "Deformities of the SPINE characterized by abnormal bending or flexure in the vertebral column. They may be bending forward (KYPHOSIS), backward (LORDOSIS), or sideway (SCOLIOSIS)." [MESH:D013121] synonym: "Spinal Curvature" EXACT [] xref: MESH:D013121 is_a: DOID:0060564 ! spinal disease is_a: DOID:0080010 ! bone structure disease [Term] id: DOID:9002610 name: Retinal Degeneration, Autosomal Recessive, Clumped Pigment Type xref: MESH:C563527 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:9002612 name: Pelvic Dysplasia Arthrogryposis of Lower Limbs alt_id: MIM:602484 synonym: "Pelvic hypoplasia with arthrogryposis of lower limbs" EXACT [] synonym: "Pelvic hypoplasia with lower limb arthrogryposis" EXACT [] xref: MESH:C535548 is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:9002613 name: Al Gazali Khidr Prem Chandran Syndrome synonym: "Cherubism, optic atrophy and short stature" EXACT [] xref: MESH:C535616 is_a: DOID:1856 ! cherubism is_a: DOID:225 ! syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002614 name: Acute Lymphoblastic Leukemia, with Lymphomatous Features alt_id: MIM:247640 alt_id: RDO:0014067 synonym: "LALL" EXACT [] synonym: "Lymphomatous ALL" EXACT [] xref: MESH:C565429 is_a: DOID:9952 ! acute lymphoblastic leukemia [Term] id: DOID:9002615 name: Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome alt_id: MIM:607658 synonym: "HOPP syndrome" EXACT [] xref: MESH:C564357 is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:4535 ! hypotrichosis is_a: DOID:824 ! periodontitis is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:9002616 name: Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis 2 def: "An autosomal recessive syndromic disorder characterized by onset of this constellation of features in infancy, resulting in death in early childhood. Caused by homozygous mutation in the NOP10 gene on chromosome 15q14." [MIM:620425] synonym: "CHINE2" EXACT [] xref: MIM:620425 is_a: DOID:9007299 ! Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis created_by: mtutaj creation_date: 2023-07-07T12:30:10Z [Term] id: DOID:9002617 name: Brachytelephalangy Characteristic Facies Kallmann alt_id: MIM:113480 synonym: "Brachytelephalangy with Characteristic Facies and Kallmann Syndrome" EXACT [] synonym: "Characteristic craniofacial appearance and brachytelephalangy" EXACT [] xref: MESH:C537101 is_a: DOID:3614 ! Kallmann syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9002618 name: Familial Neurocardiogenic Syncope alt_id: MIM:609289 synonym: "Familial vasovagal syncope" EXACT [] synonym: "VVS" EXACT [] xref: MESH:C536849 is_a: DOID:9008830 ! Vasovagal Syncope [Term] id: DOID:9002619 name: Complicated X-Linked Ichthyosis alt_id: RDO:0015510 xref: MESH:C567443 is_a: DOID:1700 ! X-linked ichthyosis [Term] id: DOID:9002620 name: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION def: "In this syndrome short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. (OMIM)" [] synonym: "SSMED" EXACT [] synonym: "XRCC4-RELATED CONDITION" EXACT [] xref: MIM:616541 xref: RDO:9001550 is_a: DOID:10907 ! microcephaly is_a: DOID:28 ! endocrine system disease is_a: DOID:9007661 ! Dwarfism created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:9002622 name: Shellfish Poisoning def: "Poisoning from toxins present in bivalve mollusks that have been ingested. Four distinct types of shellfish poisoning are recognized based on the toxin involved." [MESH:D057096] synonym: "Amnesic Shellfish Poisoning" EXACT [] synonym: "Amnesic Shellfish Poisonings" EXACT [] synonym: "Diarrhetic Shellfish Poisoning" EXACT [] synonym: "Diarrhetic Shellfish Poisonings" EXACT [] synonym: "Neurotoxic Shellfish Poisoning" EXACT [] synonym: "Neurotoxic Shellfish Poisonings" EXACT [] synonym: "Paralytic Shellfish Poisoning" EXACT [] synonym: "Paralytic Shellfish Poisonings" EXACT [] synonym: "Shellfish Poisonings" EXACT [] xref: MESH:D057096 is_a: DOID:9006436 ! Foodborne Diseases [Term] id: DOID:9002623 name: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, 8, WITH RHIZOMELIC SHORT STATURE def: "This disease is an X-linked disorder with variable onset and manifestations. Features of atypical hemolytic uremic syndrome (aHUS) include acute renal dysfunction with proteinuria, thrombotic microangiopathy, anemia, thrombocytopenia, increased serum lactate dehydrogenase (LDH), and schistocytes on peripheral blood smear. Affected individuals also have short stature with short limbs. Treatment with C5 inhibitors results in improvement of renal function." [MIM:301110] synonym: "AHUS8" EXACT [] synonym: "atypical hemolytic uremic syndrome-8 with rhizomelic short stature" EXACT [] xref: MIM:301110 is_a: DOID:0080301 ! atypical hemolytic-uremic syndrome created_by: slaulede creation_date: 2023-08-25T08:40:22Z [Term] id: DOID:9002624 name: Aerobic Actinomyces Infection xref: GARD:9779 xref: MESH:C538054 is_a: DOID:8478 ! actinomycosis [Term] id: DOID:9002625 name: Complement Component 4, Partial Deficiency Of alt_id: MIM:120790 synonym: "partial deficiency of complement component 4 due to dysfunctional c1 inhibitor" EXACT [] xref: MESH:C565168 is_a: DOID:626 ! complement deficiency [Term] id: DOID:9002626 name: Progressive Familial Intrahepatic Cholestasis 8 def: "An autosomal recessive disorder characterized by cholestasis and high gamma-glutamyltransferse presenting in the infantile period. Caused by homozygous or compound heterozygous mutation in the KIF12 gene on chromosome 9q32." [MIM:619662] synonym: "PFIC8" EXACT [] xref: MIM:619662 is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis created_by: mtutaj creation_date: 2021-12-22T09:33:37Z [Term] id: DOID:9002627 name: Familial Isolated Hypoparathyroidism 2 synonym: "FIH2" EXACT [] xref: MIM:618883 is_a: DOID:0111387 ! familial isolated hypoparathyroidism created_by: mtutaj creation_date: 2020-05-15T11:18:42Z [Term] id: DOID:9002628 name: Complete Absence of Bile and Pancreatic Ducts alt_id: MIM:608063 xref: MESH:C564298 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9002629 name: Cubital Tunnel Syndrome def: "Compression of the ULNAR NERVE in the cubital tunnel, which is formed by the two heads of the flexor carpi ulnaris muscle, humeral-ulnar aponeurosis, and medial ligaments of the elbow. This condition may follow trauma or occur in association with processes which produce nerve enlargement or narrowing of the canal. Manifestations include elbow pain and PARESTHESIA radiating distally, weakness of ulnar innervated intrinsic hand muscles, and loss of sensation over the hypothenar region, fifth finger, and ulnar aspect of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" [MESH:D020430] synonym: "Cubital Tunnel Syndromes" EXACT [] synonym: "Ulnar Nerve Compression, Cubital Tunnel" EXACT [] synonym: "Ulnar Nerve Entrapment, Elbow" EXACT [] xref: EFO:1001301 xref: MESH:D020430 xref: RDO:0007410 is_a: DOID:225 ! syndrome is_a: DOID:4613 ! ulnar neuropathy is_a: DOID:9007100 ! Ulnar Nerve Compression Syndromes [Term] id: DOID:9002630 name: Epidermolysis Bullosa, Lethal Acantholytic alt_id: MIM:609638 synonym: "EBLA" EXACT [] synonym: "LAEB" EXACT [] xref: MESH:C535493 is_a: DOID:2730 ! epidermolysis bullosa [Term] id: DOID:9002631 name: Vitelliform Macular Dystrophy 1 alt_id: MIM:153840 synonym: "atypical vitelliform macular dystrophy" EXACT [] synonym: "VMD1" EXACT [] xref: MESH:C537832 is_a: DOID:0050661 ! vitelliform macular dystrophy [Term] id: DOID:9002633 name: Premature Obstetric Labor def: "Onset of OBSTETRIC LABOR before term (TERM BIRTH) but usually after the FETUS has become viable. In humans, it occurs sometime during the 29th through 38th week of PREGNANCY. TOCOLYSIS inhibits premature labor and can prevent the BIRTH of premature infants (INFANT, PREMATURE)." [MESH:D007752] synonym: "Premature Labor" EXACT [] synonym: "Preterm Labor" EXACT [] xref: MESH:D007752 is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:9002634 name: DENTICI-NOVELLI NEURODEVELOPMENTAL SYNDROME def: "This disease is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development apparent from infancy." [MIM:619877] synonym: "DENNED" EXACT [] xref: MIM:619877 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-06-13T15:16:29Z [Term] id: DOID:9002635 name: Brachymesomelia Renal Syndrome alt_id: MIM:113470 synonym: "Langer Nishino Yamaguchi syndrome" EXACT [] xref: MESH:C537096 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9002637 name: Splenoportal Vascular Anomalies alt_id: MIM:271500 xref: MESH:C562761 is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:9002638 name: Poor Metabolism of Proguanil xref: MESH:C563704 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9002639 name: Woods Black Norbury Syndrome alt_id: MIM:300076 synonym: "Immunoneurologic Disorder, X-Linked" EXACT [] synonym: "Neonatal death immune deficiency" EXACT [] synonym: "X-linked immunoneurological disorder" EXACT [] xref: MESH:C536743 is_a: DOID:225 ! syndrome is_a: DOID:628 ! combined T cell and B cell immunodeficiency [Term] id: DOID:9002640 name: CEREBROFACIAL ARTERIOVENOUS METAMERIC SYNDROME alt_id: MONDO:0015405 def: "This is a group of rare arteriovenous malformations characterized by unilateral vascular malformations in a metameric distribution involving the craniofacial region. Subtypes differ according to the distribution of lesions." [ORPHA:141189] synonym: "CAMS" EXACT [] is_a: DOID:0060688 ! arteriovenous malformations of the brain is_a: DOID:225 ! syndrome created_by: slaulede creation_date: 2023-06-06T08:49:45Z [Term] id: DOID:9002641 name: Bone Marrow Neoplasms alt_id: RDO:0007250 def: "Neoplasms located in the bone marrow. They are differentiated from neoplasms composed of bone marrow cells, such as MULTIPLE MYELOMA. Most bone marrow neoplasms are metastatic." [MESH:D019046] synonym: "bone marrow neoplasm" EXACT [] synonym: "bone marrow tumor" EXACT [NCI2004_11_17:C35370] xref: MESH:D019046 is_a: DOID:4961 ! bone marrow disease is_a: DOID:9006532 ! Hematologic Neoplasms [Term] id: DOID:9002642 name: Isolated Microphthalmia with Coloboma xref: MIM:PS300345 is_a: DOID:0080637 ! isolated microphthalmia is_a: DOID:12270 ! coloboma created_by: mtutaj creation_date: 2019-03-20T00:00:00Z [Term] id: DOID:9002643 name: Long QT Syndrome 3/6 synonym: "LONG QT SYNDROME 3/6, DIGENIC" EXACT [] synonym: "LQT3/6, DIGENIC" EXACT [] xref: MESH:C566334 is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:9002644 name: Premature Aging alt_id: RDO:0007285 def: "Changes in the organism associated with senescence, occurring at an accelerated rate." [MESH:D019588] xref: MESH:D019588 is_a: DOID:9000071 ! Signs and Symptoms is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:9002645 name: Paroxysmal Exertion-Induced Dyskinesia and Hemolytic Anemia xref: MESH:C567412 xref: RDO:0015490 is_a: DOID:583 ! hemolytic anemia is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9002646 name: Auriculocondylar Syndrome 3 synonym: "ARCND3" EXACT [] xref: MIM:615706 is_a: DOID:9000208 ! Auriculocondylar Syndrome [Term] id: DOID:9002647 name: Megalencephaly - Cutis Marmorata Telangiectatica Congenita alt_id: MIM:602501 synonym: "Macrocephaly-Capillary Malformation" EXACT [] synonym: "Macrocephaly cutis marmorata telangiectatica congenita" EXACT [] synonym: "MCAP" EXACT [] synonym: "MCM" EXACT [] synonym: "MCMTC" EXACT [] synonym: "megalencephaly-capillary malformation-polymicrogyria syndrome" EXACT [] synonym: "megalocephaly - cutis marmorata telangiectatica congenita" EXACT [] synonym: "PIK3CA-related overgrowth spectrum" EXACT [] synonym: "VASCULAR MALFORMATIONS AND OVERGROWTH" EXACT [] xref: EFO:0009146 xref: MESH:C536142 is_a: DOID:1272 ! telangiectasis is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:9002649 name: Acrodysostosis 2, with or without Hormone Resistance synonym: "ACRDYS2" EXACT [] synonym: "PDE4D-RELATED CONDITION" EXACT [] xref: MIM:614613 is_a: DOID:14669 ! acrodysostosis [Term] id: DOID:9002650 name: Sebaceous Nevus Syndrome and Hemimegalencephaly xref: MESH:C563339 is_a: DOID:0111530 ! linear nevus sebaceous syndrome is_a: DOID:9008237 ! Hemimegalencephaly [Term] id: DOID:9002651 name: T-CELL LYMPHOPENIA, INFANTILE, WITH OR WITHOUT NAIL DYSTROPHY, AUTOSOMAL DOMINANT def: "An autosomal dominant disorder characterized by decreased numbers of T cells, particularly cytotoxic CD8+ T cells, usually apparent from infancy." [MIM:618806] synonym: "autosomal dominant infantile T-cell lymphopenia with or without nail dystrophy" EXACT [] synonym: "TLIND" EXACT [] xref: MIM:618806 is_a: DOID:4123 ! nail disease is_a: DOID:9008671 ! T-Lymphocytopenia created_by: slaulede creation_date: 2020-08-20T15:51:45Z [Term] id: DOID:9002652 name: Alpha-Thalassemia 2 synonym: "Alpha+ Thalassemia" RELATED [] synonym: "Alpha+ Thalassemia, NOS" RELATED [] synonym: "Alpha plus thalassemia" EXACT [] synonym: "Alpha-thalassemia, dutch type" NARROW [] synonym: "HEMOGLOBIN EVANSTON" RELATED [] synonym: "HEMOGLOBIN RIO CLARO" RELATED [] synonym: "HEMOGLOBIN ZURICH ALBISRIEDEN" RELATED [] is_a: DOID:1099 ! alpha thalassemia created_by: rgd creation_date: 2016-04-12T00:00:00Z [Term] id: DOID:9002653 name: Avulavirus Infections def: "Infections with viruses of the genus AVULAVIRUS, family PARAMYXOVIRIDAE. This includes NEWCASTLE DISEASE and other infections of domestic fowl." [MESH:D045463] synonym: "Avulavirus Infection" EXACT [] xref: EFO:0007161 xref: MESH:D045463 xref: MONDO:0005660 is_a: DOID:9007244 ! Paramyxoviridae Infections [Term] id: DOID:9002654 name: Intraabdominal Infections def: "Infection within the PERITONEAL CAVITY. A frequent cause is an ANASTOMOTIC LEAK following surgery." [MESH:D059413] synonym: "Intra-Abdominal Infection" EXACT [] synonym: "Intraabdominal Infection" EXACT [] synonym: "Intra Abdominal Infections" EXACT [] xref: MESH:D059413 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:9002655 name: Hyperkinetic Conduct Disorder synonym: "HD & CD" EXACT [] synonym: "hyperkinetic disorder and conduct disorder" EXACT [] xref: RDO:9002120 is_a: DOID:1094 ! attention deficit hyperactivity disorder created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9002656 name: Attention Deficit-Hyperactivity Disorder 7 synonym: "ADHD7" EXACT [] synonym: "attention deficit-hyperactivity disorder, susceptibility to, 7" RELATED [] xref: MIM:613003 xref: MONDO:0013076 is_a: DOID:1094 ! attention deficit hyperactivity disorder created_by: mtutaj creation_date: 2022-07-18T11:40:00Z [Term] id: DOID:9002657 name: Malocclusion and Short Stature alt_id: MIM:248350 xref: MESH:C565421 is_a: DOID:9000121 ! Malocclusion is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002658 name: Trisomy 20p synonym: "Chromosome 20, duplication 20p" EXACT [] synonym: "Duplication 20p" EXACT [] xref: MESH:C535371 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9002659 name: Selig Benacerraf Greene Syndrome synonym: "Renal dysplasia, megalocystis, and sirenomelia" EXACT [] xref: MESH:C535840 is_a: DOID:12577 ! urethral obstruction is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9002660 name: Alert Fatigue, Health Personnel def: "Mental fatigue experienced by health care providers who encounter numerous alerts and reminders from the use of CLINICAL DECISION SUPPORT SYSTEMS. As the numbers of alerts and reminders designed to provide meaningful assistance to the patient care process increases, many health personnel may ignore them." [MESH:D000071064] xref: MESH:D000071064 is_a: DOID:9000601 ! Mental Fatigue [Term] id: DOID:9002661 name: Diabetes Complications def: "Conditions or pathological processes associated with the disease of diabetes mellitus. Due to the impaired control of BLOOD GLUCOSE level in diabetic patients, pathological processes develop in numerous tissues and organs including the EYE, the KIDNEY, the BLOOD VESSELS, and the NERVE TISSUE." [MESH:D048909] synonym: "Complications of Diabetes Mellitus" EXACT [] synonym: "Diabetes Complication" EXACT [] synonym: "Diabetes Mellitus Complication" EXACT [] synonym: "Diabetes Mellitus Complications" EXACT [] synonym: "Diabetes-Related Complication" EXACT [] synonym: "Diabetes Related Complications" EXACT [] synonym: "Diabetic Complication" EXACT [] synonym: "Diabetic Complications" EXACT [] xref: MESH:D048909 xref: RDO:0001421 is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9002662 name: Curatolo Cilio Pessagno Syndrome synonym: "White matter hypoplasia, corpus callosum agenesia, and mental retardation" EXACT [] xref: MESH:C536701 xref: RDO:0002357 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002663 name: Familial Cancer with In Vitro Radioresistance alt_id: MIM:114450 alt_id: RDO:0014615 xref: MESH:C566179 is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9002664 name: Microcephaly Seizures Mental Retardation Heart Disorders synonym: "Microcephaly, seizures, mental retardation, congenital heart disease, and skeletal abnormalities" EXACT [] xref: MESH:C537544 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:1682 ! congenital heart disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002665 name: Bruck Syndrome 2 synonym: "BRKS2" EXACT [] synonym: "PLOD2-RELATED CONDITION" EXACT [] xref: MESH:C537407 xref: MIM:609220 xref: MONDO:0012217 is_a: DOID:0060231 ! Bruck syndrome [Term] id: DOID:9002666 name: Hypogonadotropic Hypogonadism 26 with or without Anosmia def: "Characterized by micropenis and cryptorchidism at birth in male patients, and absent puberty and anosmia in male or female patients. Caused by heterozygous mutation in the TCF12 gene on chromosome 15q21." [MIM:619718] synonym: "HH26" EXACT [] synonym: "HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA" NARROW [] xref: MIM:619718 is_a: DOID:0090070 ! hypogonadotropic hypogonadism created_by: mtutaj creation_date: 2022-01-27T10:03:56Z [Term] id: DOID:9002667 name: Lysine Malabsorption Syndrome alt_id: MIM:247950 xref: MESH:C563080 is_a: DOID:9002984 ! Malabsorption Syndromes is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9002668 name: Liver Abscess def: "Solitary or multiple collections of PUS within the liver as a result of infection by bacteria, protozoa, or other agents." [MESH:D008100] synonym: "Hepatic Abscess" EXACT [] synonym: "Hepatic Abscesses" EXACT [] synonym: "Liver Abscesses" EXACT [] xref: MESH:D008100 is_a: DOID:409 ! liver disease is_a: DOID:9008115 ! Abdominal Abscess [Term] id: DOID:9002669 name: Hypoxia def: "Sub-optimal OXYGEN levels in the ambient air of living organisms." [MESH:D000860] synonym: "Anoxia" RELATED [] synonym: "Oxygen Deficiencies" EXACT [] synonym: "Oxygen Deficiency" EXACT [] xref: EFO:0009444 xref: MESH:D000860 is_a: DOID:9000575 ! Respiratory Signs and Symptoms [Term] id: DOID:9002670 name: HTLV-I Infections alt_id: RDO:0006891 def: "Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 1." [MESH:D015490] synonym: "HTLV-I Infection" EXACT [] synonym: "Human T-lymphotropic virus 1 infectious disease" EXACT [] xref: EFO:0007316 xref: MESH:D015490 is_a: DOID:9001509 ! Deltaretrovirus Infections [Term] id: DOID:9002673 name: Marek Disease def: "A transmissible viral disease of birds caused by avian herpesvirus 2 (HERPESVIRUS 2, GALLID) and other MARDIVIRUS. There is lymphoid cell infiltration or lymphomatous tumor formation in the peripheral nerves and gonads, but may also involve visceral organs, skin, muscle, and the eye." [MESH:D008380] synonym: "Fowl Paralyses" EXACT [] synonym: "Fowl Paralysis" EXACT [] synonym: "Marek's Disease" EXACT [] synonym: "Mareks Disease" EXACT [] synonym: "Neurolymphomatoses" EXACT [] synonym: "Neurolymphomatosis" EXACT [] xref: MESH:D008380 xref: NCI:C84884 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:9002834 ! Herpesviridae Infections is_a: DOID:9004886 ! Tumor Virus Infections is_a: DOID:9006114 ! Bird Diseases [Term] id: DOID:9002674 name: Laryngeal Granuloma def: "A tumor-like nodule or mass of inflammatory granulation tissue projecting into the lumen of the LARYNX." [MESH:D006102] synonym: "Granuloma of Larynx" EXACT [] synonym: "Laryngeal Granulomas" EXACT [] synonym: "Larynx Granuloma" EXACT [] synonym: "Larynx Granulomas" EXACT [] xref: MESH:D006102 is_a: DOID:11162 ! respiratory failure is_a: DOID:786 ! laryngeal disease is_a: DOID:9002287 ! Respiratory Tract Granuloma [Term] id: DOID:9002675 name: Hereditary Renal Cancer Associated 1 synonym: "Renal Carcinoma, Familial, Associated 1" EXACT [] xref: MESH:C564169 xref: RDO:0013216 is_a: DOID:9002265 ! Kidney Neoplasms [Term] id: DOID:9002676 name: Cerebral Hemorrhage def: "Bleeding into one or both CEREBRAL HEMISPHERES including the BASAL GANGLIA and the CEREBRAL CORTEX. It is often associated with HYPERTENSION and CRANIOCEREBRAL TRAUMA." [MESH:D002543] synonym: "Cerebral Brain Hemorrhage" EXACT [] synonym: "Cerebral Brain Hemorrhages" EXACT [] synonym: "Cerebral Hemorrhages" EXACT [] synonym: "Cerebral Parenchymal Hemorrhage" EXACT [] synonym: "Cerebral Parenchymal Hemorrhages" EXACT [] synonym: "Cerebrum Hemorrhage" EXACT [] synonym: "Cerebrum Hemorrhages" EXACT [] synonym: "COL4A2-RELATED CONDITION" BROAD [] synonym: "COL4A2-RELATED DISORDER" BROAD [] synonym: "Hemorrhage, intracerebral, susceptibility to" RELATED [] synonym: "ICH" EXACT [] synonym: "Intracerebral Hemorrhage" EXACT [] synonym: "Intracerebral Hemorrhages" EXACT [] synonym: "non-lobar intracerebral hemorrhage" NARROW [] synonym: "parenchymal hematoma" EXACT [] synonym: "STROKE, HEMORRHAGIC, SUSCEPTIBILITY TO" RELATED [] xref: EFO:0005669 xref: EFO:0010178 xref: EFO:0020101 xref: MESH:D002543 xref: MIM:614519 xref: NCI:C50485 is_a: DOID:9003104 ! Intracranial Hemorrhages [Term] id: DOID:9002677 name: Colic def: "A clinical syndrome with intermittent abdominal pain characterized by sudden onset and cessation that is commonly seen in infants. It is usually associated with obstruction of the INTESTINES; of the CYSTIC DUCT; or of the URINARY TRACT." [MESH:D003085] synonym: "Abdominal Cramp" EXACT [] synonym: "Abdominal Cramps" EXACT [] synonym: "Infantile Colic" EXACT [] xref: MESH:D003085 is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9002678 name: Kumar Levick Syndrome alt_id: MIM:106990 synonym: "anonychia-onychodystrophy with brachydactyly type B and ectrodactyly" EXACT [] xref: MESH:C536379 is_a: DOID:0050581 ! brachydactyly is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9002679 name: Premature Ovarian Failure, Familial synonym: "Idiopathic familial premature ovarian failure" EXACT [] xref: MESH:C535272 is_a: DOID:5426 ! primary ovarian insufficiency [Term] id: DOID:9002680 name: Zimmermann-Laband Syndrome 1 synonym: "gingival fibromatosis with abnormal fingers, fingernails, nose and ears, and splenomegaly" EXACT [] synonym: "KCNH1 ASSOCIATED DISORDER" BROAD [] synonym: "KCNH1-RELATED CONDITION" BROAD [] synonym: "ZLS1" EXACT [] xref: MIM:135500 is_a: DOID:9004260 ! Zimmerman Laband Syndrome created_by: mtutaj creation_date: 2019-11-12T11:38:08Z [Term] id: DOID:9002682 name: Cardiovascular Abnormalities def: "Congenital, inherited, or acquired anomalies of the CARDIOVASCULAR SYSTEM, including the HEART and BLOOD VESSELS." [MESH:D018376] synonym: "abnormality of cardiovascular system morphology" RELATED [] synonym: "Cardiovascular Abnormality" EXACT [] xref: EFO:0003848 xref: MESH:D018376 xref: RDO:0000746 is_a: DOID:1287 ! cardiovascular system disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9002683 name: Back Injuries def: "General or unspecified injuries to the posterior part of the trunk. It includes injuries to the muscles of the back." [MESH:D019567] synonym: "Back Injury" EXACT [] xref: MESH:D019567 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9002684 name: Localized Epidermolysis Bullosa Simplex 1C synonym: "EBS1C" EXACT [] synonym: "epidermolysis bullosa simplex 1C, Weber-Cockayne type" EXACT [] xref: MIM:131800 is_a: DOID:0080510 ! epidermolysis bullosa simplex localized type created_by: mtutaj creation_date: 2021-11-03T12:17:49Z [Term] id: DOID:9002685 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 4 synonym: "PFBMFT4" EXACT [] synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 4" EXACT [] xref: MIM:616371 is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related [Term] id: DOID:9002686 name: Behrens Baumann Dust Syndrome synonym: "Oculo-cerebral dysplasia" EXACT [] xref: MESH:C537670 xref: RDO:0003550 is_a: DOID:10629 ! microphthalmia is_a: DOID:225 ! syndrome is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:9002687 name: Arthrogryposis and Ectodermal Dysplasia alt_id: MIM:601701 synonym: "Alves syndrome" EXACT [] synonym: "Arthrogryposis ectodermal dysplasia other anomalies" EXACT [] synonym: "Cote Adamopoulos Pantelakis syndrome" EXACT [] synonym: "TODV syndrome" EXACT [] synonym: "Trichooculodermovertebral syndrome" EXACT [] xref: MESH:C537441 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9002688 name: Microcephaly with Chorioretinopathy, Autosomal Dominant xref: MESH:C563583 is_a: DOID:10907 ! microcephaly is_a: DOID:5679 ! retinal disease [Term] id: DOID:9002689 name: Spontaneous Neoplasm Regression alt_id: RDO:0006194 def: "Disappearance of a neoplasm or neoplastic state without the intervention of therapy." [MESH:D009365] synonym: "Spontaneous Neoplasm Remission" EXACT [] xref: MESH:D009365 is_a: DOID:9008192 ! Neoplastic Processes [Term] id: DOID:9002690 name: Achondrogenesis, Type 3 xref: MESH:C536018 is_a: DOID:4480 ! achondroplasia [Term] id: DOID:9002691 name: Stickler Syndrome, Type V alt_id: OMIA:001523 synonym: "COL9A2-RELATED CONDITION" BROAD [] synonym: "COL9A2-RELATED DISORDER" BROAD [] synonym: "Oculoskeletal dysplasia 2" EXACT [] synonym: "Stickler Syndrome, Type 5" EXACT [] synonym: "STL5" EXACT [] xref: MIM:614284 is_a: DOID:0080046 ! Stickler syndrome [Term] id: DOID:9002693 name: Cataract, Polymorphic and Lamellar xref: MESH:C563603 is_a: DOID:83 ! cataract [Term] id: DOID:9002694 name: Synpolydactyly 3 alt_id: MIM:610234 synonym: "SPD3" EXACT [] xref: MESH:C565216 is_a: DOID:0060242 ! synpolydactyly is_a: DOID:1148 ! polydactyly [Term] id: DOID:9002695 name: Cataplexy def: "A condition characterized by transient weakness or paralysis of somatic musculature triggered by an emotional stimulus or physical exertion. Cataplexy is frequently associated with NARCOLEPSY. During a cataplectic attack, there is a marked reduction in muscle tone similar to the normal physiologic hypotonia that accompanies rapid eye movement sleep (SLEEP, REM). (From Adams et al., Principles of Neurology, 6th ed, p396)" [MESH:D002385] synonym: "Cataleptic Attack" EXACT [] synonym: "Cataleptic Attacks" EXACT [] synonym: "Henneberg Syndrome" EXACT [] synonym: "Status Cataplexicus" EXACT [] synonym: "Tonelessness Syndrome" EXACT [] synonym: "Tonelessness Syndromes" EXACT [] xref: MESH:D002385 is_a: DOID:8986 ! narcolepsy [Term] id: DOID:9002698 name: Rigor Mortis def: "Muscular rigidity which develops in the cadaver usually from 4 to 10 hours after death and lasts 3 or 4 days." [MESH:D012298] xref: MESH:D012298 is_a: DOID:9006374 ! Postmortem Changes [Term] id: DOID:9002699 name: Periapical Diseases alt_id: RDO:0006316 def: "Diseases of the PERIAPICAL TISSUE surrounding the root of the tooth, which is distinguished from DENTAL PULP DISEASES inside the TOOTH ROOT." [MESH:D010483] synonym: "disease of periapical tissue" EXACT [] synonym: "Periapical Disease" EXACT [] synonym: "periapical tissue condition" EXACT [] synonym: "periapical tissue disease" EXACT [] synonym: "periapical tissue disorder" EXACT [] xref: EFO:0010688 xref: MESH:D010483 is_a: DOID:3388 ! periodontal disease is_a: DOID:9003876 ! Jaw Diseases [Term] id: DOID:9002701 name: Spinal Intradural Arachnoid Cysts alt_id: MIM:182990 xref: MESH:C536878 is_a: DOID:319 ! spinal cord disease is_a: DOID:9007612 ! Arachnoid Cysts [Term] id: DOID:9002702 name: Noncompaction of Left Ventricular Myocardium with Congenital Heart Defects synonym: "Left Ventricular Noncompaction, Nonisolated" EXACT [] synonym: "Left Ventricular Noncompaction with Congenital Heart Defects" EXACT [] xref: MESH:C564690 xref: RDO:0013563 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9002703 name: Thumb Deformity, Alopecia, Pigmentation Anomaly synonym: "Congenital deformity of the thumb and congenital alopecia" EXACT [] synonym: "Hypotrichosis associated with congenital hypoplasia of the thumb" EXACT [] xref: MESH:C536904 xref: RDO:0002625 is_a: DOID:10123 ! pigmentation disease is_a: DOID:13714 ! anodontia is_a: DOID:987 ! alopecia [Term] id: DOID:9002704 name: Leukoencephalopathies alt_id: OMIA:000526 alt_id: RDO:0001248 def: "Any of various diseases affecting the white matter of the central nervous system." [MESH:D056784] synonym: "CACH syndrome" EXACT [] synonym: "CACH Syndromes" EXACT [] synonym: "CACH VWM Syndrome" EXACT [] synonym: "CACH VWM Syndromes" EXACT [] synonym: "Childhood Ataxia with Diffuse Central Nervous System Hypomyelination" EXACT [] synonym: "Hypomyelination of the central nervous system" EXACT [] synonym: "Leukoencephalopathy" EXACT [] synonym: "Myelinosis Centralis Diffusa" EXACT [] synonym: "Myelinosis Centralis Diffusas" EXACT [] synonym: "White Matter Disease" EXACT [] synonym: "white matter diseases" EXACT [] xref: MESH:D056784 is_a: DOID:936 ! brain disease [Term] id: DOID:9002705 name: schizoaffective disorder, bipolar type def: "This is a schizoaffective disorder that is distinguished by symptoms of mania, hypomania, or mixed episode" [EFO:0009965] synonym: "Schizoaffective disorder-bipolar type" EXACT [] xref: EFO:0009965 is_a: DOID:5418 ! schizoaffective disorder created_by: slaulede creation_date: 2022-10-25T10:00:22Z [Term] id: DOID:9002706 name: Histidinuria, Renal Tubular Defect alt_id: MIM:235830 synonym: "Histidinuria due to a Renal Tubular Defect" EXACT [] synonym: "Renal histidinuria" EXACT [] xref: MESH:C538321 is_a: DOID:9002207 ! Renal Aminoacidurias [Term] id: DOID:9002707 name: Hallux Varus def: "Displacement of the great toe (HALLUX) towards the midline or away from the other TOES. It can be congenital or acquired." [MESH:D050488] synonym: "Metatarsus Primus Varus" EXACT [] xref: MESH:D050488 xref: RDO:0002602 is_a: DOID:9003938 ! Foot Deformities [Term] id: DOID:9002710 name: Rubulavirus Infections def: "Infections with viruses of the genus RUBULAVIRUS, family PARAMYXOVIRIDAE." [MESH:D019351] synonym: "Rubulavirus Infection" EXACT [] xref: MESH:D019351 xref: RDO:0006154 is_a: DOID:9007244 ! Paramyxoviridae Infections [Term] id: DOID:9002711 name: Gallbladder Disease 2 alt_id: MIM:609918 synonym: "GBD2" EXACT [] xref: MESH:C563687 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:9002712 name: Thymic-Renal-Anal-Lung Dysplasia alt_id: MIM:274265 def: "Syndrome of unilobed or absent thymus, renal and ureter agenesis/dysgenesis, and intrauterine growth retardation (IUGR)." [] xref: MESH:C536907 is_a: DOID:10488 ! imperforate anus is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9002713 name: Gardner Morrisson Abbot Syndrome synonym: "Thrombocytopenia multiple congenital anomaly" EXACT [] xref: MESH:C535643 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002714 name: Cystinosis, Late-Onset Juvenile or Adolescent Nephropathic Type alt_id: MIM:219900 synonym: "Cystinosis, Intermediate" EXACT [] xref: EFO:0009049 xref: MESH:C562683 is_a: DOID:1064 ! cystinosis is_a: DOID:1184 ! nephrotic syndrome [Term] id: DOID:9002716 name: Primary Ovarian Insufficiency 20 def: "Characterized by female infertility due to secondary amenorrhea. Caused by homozygous mutation in the MSH4 gene on chromosome 1p31." [MIM:619938] synonym: "POF20" EXACT [] synonym: "premature ovarian failure 20" EXACT [] xref: MIM:619938 is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2022-07-01T12:30:30Z [Term] id: DOID:9002717 name: Parvovirus Antenatal Infection synonym: "Maternofetal infection by parvovirus" EXACT [] synonym: "Parvovirus B19 antenatal infection" EXACT [] xref: MESH:C536301 xref: RDO:0001827 is_a: DOID:8743 ! erythema infectiosum [Term] id: DOID:9002718 name: Colles' Fracture def: "Fracture of the lower end of the radius in which the lower fragment is displaced posteriorly." [MESH:D003100] xref: MESH:D003100 is_a: DOID:9000012 ! Fracture Dislocation is_a: DOID:9005316 ! Radius Fractures [Term] id: DOID:9002719 name: Hairy Ears, Y-Linked alt_id: MIM:425500 synonym: "Hypertrichosis Pinnae Auris, Y-Linked" EXACT [] xref: MESH:C564029 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9002720 name: Splenomegaly def: "Enlargement of the spleen." [MESH:D013163] synonym: "Enlarged Spleen" EXACT [] xref: MESH:D013163 is_a: DOID:9000040 ! Hypertrophy [Term] id: DOID:9002721 name: Hypertensive Nephrosclerosis def: "Fibrosis of the kidney caused by chronic hypertension." [] synonym: "HTNS" EXACT [] is_a: DOID:11664 ! nephrosclerosis created_by: rgd creation_date: 2017-06-28T00:00:00Z [Term] id: DOID:9002722 name: Gastric Adenocarcinoma and Proximal Polyposis of the Stomach alt_id: MIM:619182 synonym: "fundic gland polyposis" EXACT [] synonym: "GAPPS" EXACT [] synonym: "polyposis of gastric fundus without polyposis coli" EXACT [] xref: MESH:C566775 is_a: DOID:3717 ! gastric adenocarcinoma is_a: DOID:9003987 ! Gastric Polyposis created_by: mtutaj creation_date: 2021-02-15T10:01:11Z [Term] id: DOID:9002724 name: Brachydactyly, Long-Thumb Type alt_id: MIM:112430 synonym: "Long-Thumb Brachydactyly Syndrome" EXACT [] xref: MESH:C566204 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:9002726 name: Leg Length Inequality def: "A condition in which one of a pair of legs fails to grow as long as the other, which could result from injury or surgery." [MESH:D007870] synonym: "Leg Length Inequalities" EXACT [] xref: MESH:D007870 is_a: DOID:0080006 ! bone development disease is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9002727 name: Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness alt_id: MIM:226950 xref: MESH:C565585 is_a: DOID:11830 ! myopia is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9008681 ! Deafness [Term] id: DOID:9002728 name: Hyperkeratosis-Hyperpigmentation Syndrome alt_id: MIM:144190 xref: MESH:C564172 is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9003984 ! Hyperpigmentation [Term] id: DOID:9002729 name: Meningioangiomatosis def: "This is a rare vascular malformation in the cerebral cortex and overlying leptomeninges. It can occur sporadically or in association with neurofibromatosis type 2." [NCI:C121967] xref: EFO:1000371 is_a: DOID:9003191 ! Vascular Malformations created_by: slaulede creation_date: 2023-02-20T17:07:14Z [Term] id: DOID:9002730 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND ABSENT LANGUAGE synonym: "NEDMHAL" EXACT [] xref: MIM:620038 is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:93 ! language disorder created_by: slaulede creation_date: 2022-12-15T10:17:09Z [Term] id: DOID:9002732 name: Chromosome 7, Trisomy 7p synonym: "duplication 7p" EXACT [] synonym: "trisomy 7p" EXACT [] xref: MESH:C537819 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9002733 name: RIV Immunoglobulin Variant Protein, Human synonym: "protein RIV, human" EXACT [] xref: MESH:C484001 xref: RDO:0000008 is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:9002734 name: Peroxisome Biogenesis Disorder, Complementation Group H xref: MESH:C566626 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9002735 name: alcohol withdrawal syndrome def: "The symptoms of this medical condition occur following a reduction in alcohol use after a period of excessive use and ranges from such minor symptoms as insomnia and tremulousness to severe complications such as withdrawal seizures and delirium tremens. Although the history and physical examination usually are sufficient to diagnose alcohol withdrawal syndrome, other conditions may present with similar symptoms." [https://en.wikipedia.org/wiki/Alcohol_withdrawal_syndrome, https://www.aafp.org/pubs/afp/issues/2004/0315/p1443.html] synonym: "AWS" EXACT [] is_a: DOID:0060001 ! withdrawal disorder is_a: DOID:9004354 ! Alcohol-Related Disorders created_by: slaulederkind creation_date: 2024-02-16T14:06:02Z [Term] id: DOID:9002737 name: Premature Cardiac Complexes def: "A group of cardiac arrhythmias in which the cardiac contractions are not initiated at the SINOATRIAL NODE. They include both atrial and ventricular premature beats, and are also known as extra or ectopic heartbeats. Their frequency is increased in heart diseases." [MESH:D005117] synonym: "Ectopic Heartbeat" EXACT [] synonym: "Ectopic Heartbeats" EXACT [] synonym: "Extrasystole" EXACT [] synonym: "Extrasystoles" EXACT [] synonym: "Premature Beat" EXACT [] synonym: "Premature Beats" EXACT [] synonym: "Premature Cardiac Complex" EXACT [] synonym: "Premature Cardiac Complices" EXACT [] xref: EFO:0009275 xref: MESH:D005117 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9002738 name: Exercise-Induced Allergies def: "Allergic reactions following a period of exercise. Elevated serum HISTAMINE and TRYPTASE levels and cutaneous MAST CELL degranulation are often associated with post-exertional allergic reactions which sometimes are triggered only in combination with prior consumption of a specific food such as wheat. Allergic symptoms produced post-exercise range from skin eruption, asthma, bronchospasm, and anaphylaxis." [] synonym: "Exercise-Induced Anaphylaxis" EXACT [] synonym: "Exercise-Induced Anaphylaxis and Urticaria" EXACT [] synonym: "Exercise-Induced Urticaria" EXACT [] synonym: "Food-Dependent Exercise-Induced Allergies" EXACT [] synonym: "Post-Exertional Allergic Reactions" EXACT [] synonym: "Wheat-Dependent Exercise-Induced Anaphylaxis" EXACT [] xref: MESH:D000092202 is_a: DOID:1205 ! allergic disease created_by: mtutaj creation_date: 2022-12-12T14:25:01Z [Term] id: DOID:9002739 name: Female Urogenital Diseases def: "Pathological processes of the female URINARY TRACT and the reproductive system (GENITALIA, FEMALE)." [MESH:D052776] synonym: "Female Genitourinary Disease" EXACT [] synonym: "Female Genitourinary Diseases" EXACT [] synonym: "Female Urogenital Disease" EXACT [] xref: MESH:D052776 xref: RDO:0005654 is_a: DOID:9000723 ! Female Urogenital Diseases and Pregnancy Complications [Term] id: DOID:9002740 name: Chromosome 1q, Duplication 1q12 q21 synonym: "Duplication 1q12 q21" EXACT [] xref: MESH:C538312 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9002741 name: Whiplash Injuries def: "Hyperextension injury to the neck, often the result of being struck from behind by a fast-moving vehicle, in an automobile accident. (From Segen, The Dictionary of Modern Medicine, 1992)" [MESH:D014911] synonym: "Whiplash Injury" EXACT [] xref: MESH:D014911 is_a: DOID:9002927 ! Neck Injuries [Term] id: DOID:9002742 name: Central Nervous System Bacterial Infections def: "Bacterial infections of the brain, spinal cord, and meninges, including infections involving the perimeningeal spaces." [MESH:D020806] xref: MESH:D020806 xref: RDO:0005051 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9000025 ! Central Nervous System Infections [Term] id: DOID:9002743 name: Striatal Degeneration, Autosomal Dominant 1 synonym: "ADSD1" EXACT [] xref: MIM:609161 is_a: DOID:9006845 ! Striatal Degeneration, Autosomal Dominant [Term] id: DOID:9002744 name: Ichthyosis Hystrix, Curth Macklin Type alt_id: MIM:146590 def: "Four genetic disorders of keratinization are known to have a structural defect of tonofibrils. In the Curth-Macklin form of ichthyosis hystrix (IHCM), concentric unbroken shells of abnormal tonofilaments form around the nucleus. IHCM is caused by heterozygous mutation in the KRT1 gene (139350) on chromosome 12q13. (OMIM)" [] synonym: "IHCM" EXACT [] xref: MESH:C536088 is_a: DOID:8741 ! seborrheic dermatitis is_a: DOID:9000971 ! Ichthyosis Hystrix [Term] id: DOID:9002745 name: Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures synonym: "SBIDDS" EXACT [] xref: MIM:617157 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:9002746 name: Infantile Myofibromatosis 2 alt_id: RDO:9000897 synonym: "IMF2" EXACT [] xref: MIM:615293 is_a: DOID:0080109 ! infantile myofibromatosis [Term] id: DOID:9002747 name: Selective Tooth Agenesis 2 alt_id: MIM:602639 alt_id: RDO:0014847 synonym: "HYD2" EXACT [] synonym: "Hypodontia-Oligodontia 2" EXACT [] synonym: "STHAG2" EXACT [] xref: MESH:C566513 is_a: DOID:0050591 ! tooth agenesis [Term] id: DOID:9002748 name: Candidiasis, Familial, 1 alt_id: MIM:114580 synonym: "CANDF1" EXACT [] synonym: "Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, With Or Without Thyroid Disease" EXACT [] synonym: "CMCT" EXACT [] xref: MESH:C567779 xref: RDO:0015741 is_a: DOID:2058 ! chronic mucocutaneous candidiasis [Term] id: DOID:9002749 name: Prostate Cancer, Hereditary, 11 alt_id: MIM:611955 synonym: "HPC11" EXACT [] xref: MESH:C567449 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9002750 name: Rosenthal-Kloepfer Syndrome alt_id: MIM:102100 synonym: "Acromegaloid changes, cutis verticis gyrata and corneal leukoma" EXACT [] xref: MESH:C535654 is_a: DOID:225 ! syndrome is_a: DOID:2449 ! acromegaly is_a: DOID:3136 ! scalp dermatosis is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:9002751 name: Intellectual Developmental Disorder, Autosomal Recessive 19 synonym: "mental retardation, autosomal recessive 19" EXACT [] synonym: "MRT19" EXACT [] xref: MIM:614343 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder [Term] id: DOID:9002752 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES def: "This disease is an autosomal recessive neurologic syndrome characterized by global developmental delay with severely impaired intellectual development, hypotonia and muscle weakness, and characteristic coarse facial features. Additional features include feeding difficulties, respiratory distress, scoliosis, poor visual function, and rotary nystagmus. Brain imaging shows variable abnormalities, including enlarged ventricles, decreased white matter volume, white matter changes, thin corpus callosum, and cerebellar hypoplasia." [MIM:619383] synonym: "NEDHFBA" EXACT [] xref: MIM:619383 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:936 ! brain disease created_by: slaulede creation_date: 2021-08-23T17:57:12Z [Term] id: DOID:9002753 name: Humerofemoral Hypoplasia with Radiotibial Ray Deficiency def: "A severe dysostosis characterized by reduction of all 4 limbs as well as hypoplasia of the upper limb girdle and pelvis." [MIM:618022] synonym: "HFHRTRD" EXACT [] synonym: "HHRRD" EXACT [] xref: MIM:618022 is_a: DOID:1934 ! dysostosis created_by: slaulede creation_date: 2019-07-11T12:41:35Z [Term] id: DOID:9002754 name: Pseudophakic Bullous Keratopathy def: "A blister-like swelling of the cornea in an pseudophakic eye, that is an eye with an artificial lens." [] synonym: "PBK" EXACT [] synonym: "Pseudophakic corneal edema" EXACT [] is_a: DOID:11031 ! bullous keratopathy [Term] id: DOID:9002755 name: Benign Ovarian Mucinous Tumor def: "A non-metastasizing neoplasm that arises from the ovary and is characterized by the presence of neoplastic epithelium that resembles the epithelium of the endocervix or gastrointestinal tract. It includes mucinous adenofibroma, mucinous cystadenofibroma, and mucinous cystadenoma." [EFO:1000115] xref: EFO:1000115 is_a: DOID:0060112 ! ovarian benign neoplasm created_by: slaulede creation_date: 2022-10-07T14:13:03Z [Term] id: DOID:9002756 name: Euhidrotic Ectodermal Dysplasia alt_id: MIM:262020 synonym: "Kopysc Barczyk Krol syndrome" EXACT [] synonym: "Pilodental dysplasia with refractive errors" EXACT [] synonym: "Trichodental dysplasia with hyperopia" EXACT [] xref: MESH:C535763 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9009007 ! Tooth Abnormalities is_a: DOID:9834 ! hyperopia [Term] id: DOID:9002757 name: Perrault Syndrome 3 synonym: "AUTOSOMAL RECESSIVE HEARING IMPAIRMENT WITH NORMAL MENSTRUAL CYCLES" EXACT [] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 81" EXACT [] synonym: "DFNB81" EXACT [] synonym: "PRLTS3" EXACT [] xref: MIM:614129 is_a: DOID:0050857 ! Perrault syndrome [Term] id: DOID:9002758 name: Congenital Hydrocephalus 5 synonym: "HYC5" EXACT [] synonym: "hydrocephalus, congenital, 5, susceptibility to" RELATED [] synonym: "SMARCC1-ASSOCIATED DEVELOPMENTAL DYSGENESIS SYNDROME" RELATED [] xref: MIM:620241 is_a: DOID:10908 ! hydrocephalus created_by: mtutaj creation_date: 2023-02-16T15:34:02Z [Term] id: DOID:9002759 name: Mediastinal Cysts def: "Cysts of one of the parts of the mediastinum: the superior part, containing the trachea, esophagus, thoracic duct and thymus organs; the inferior middle part, containing the pericardium; the inferior anterior part containing some lymph nodes; and the inferior posterior part, containing the thoracic duct and esophagus." [MESH:D008476] synonym: "mediastinal cyst" EXACT [] synonym: "Pericardial Cyst" EXACT [] synonym: "Pericardial Cysts" EXACT [] synonym: "Thoracic Cyst" EXACT [] synonym: "Thoracic Cysts" EXACT [] synonym: "Thymic Cyst" EXACT [] synonym: "Thymic Cysts" EXACT [] synonym: "Tracheal Cyst" EXACT [] synonym: "Tracheal Cysts" EXACT [] xref: EFO:1001368 xref: MESH:D008476 is_a: DOID:9007003 ! Mediastinal Diseases is_a: DOID:9007583 ! Cysts [Term] id: DOID:9002760 name: Morphological and Microscopic Findings def: "Morphological findings useful in differentiation and classification of results in CYTODIAGNOSIS and related techniques." [MESH:D065308] xref: MESH:D065308 xref: RDO:0015969 is_a: DOID:9000298 ! Pathological Conditions, Signs and Symptoms [Term] id: DOID:9002761 name: Dyschromatosis Universalis Hereditaria 1 alt_id: RDO:0015389 def: "Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped, asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications. Dyschromatosis universalis hereditaria-1 (DUH1) is caused by heterozygous mutation in the SASH1 gene on chromosome 6q24. (OMIM)" [] synonym: "DUH1" EXACT [] xref: MESH:C567273 xref: MIM:127500 is_a: DOID:0060304 ! dyschromatosis universalis hereditaria [Term] id: DOID:9002762 name: Ovarian Neoplasms def: "Tumors or cancer of the OVARY. These neoplasms can be benign or malignant. They are classified according to the tissue of origin, such as the surface EPITHELIUM, the stromal endocrine cells, and the totipotent GERM CELLS." [MESH:D010051] synonym: "Borderline Ovarian Endometrioid Tumor" NARROW [] synonym: "Borderline Ovarian Serous Tumor" NARROW [] synonym: "Borderline Ovarian Surface Epithelial-Stromal Tumor" NARROW [] synonym: "ovarian neoplasm" EXACT [] synonym: "Ovarian Steroid Cell Tumor" NARROW [] synonym: "Ovarian Tumor of the Thecoma/Fibroma Group" NARROW [] synonym: "ovary neoplasm" EXACT [] synonym: "ovary neoplasms" EXACT [] synonym: "tumor of the ovary" EXACT [] xref: EFO:0003893 xref: EFO:1000137 xref: EFO:1000139 xref: EFO:1000140 xref: EFO:1000433 xref: EFO:1000436 xref: MESH:D010051 is_a: DOID:1100 ! ovarian disease is_a: DOID:9007399 ! Female Genital Neoplasms is_a: DOID:9007803 ! Endocrine Gland Neoplasms [Term] id: DOID:9002763 name: Experimental Autoimmune Encephalomyelitis def: "An experimental animal model for central nervous system demyelinating disease. Inoculation with a white matter emulsion combined with FREUND'S ADJUVANT, myelin basic protein, or purified central myelin triggers a T cell-mediated immune response directed towards central myelin. The pathologic features are similar to MULTIPLE SCLEROSIS, including perivascular and periventricular foci of inflammation and demyelination. Subpial demyelination underlying meningeal infiltrations also occurs, which is also a feature of ENCEPHALOMYELITIS, ACUTE DISSEMINATED. Passive immunization with T-cells from an afflicted animal to a normal animal also induces this condition. (From Immunol Res 1998;17(1-2):217-27; Raine CS, Textbook of Neuropathology, 2nd ed, p604-5)" [MESH:D004681] synonym: "Allergic Encephalomyelitis" EXACT [] synonym: "EAE" EXACT [] synonym: "Experimental Allergic Encephalomyelitides" EXACT [] synonym: "Experimental Allergic Encephalomyelitis" EXACT [] xref: EFO:0001066 xref: MESH:D004681 is_a: DOID:640 ! encephalomyelitis is_a: DOID:9000990 ! Experimental Nervous System Autoimmune Disease is_a: DOID:9007010 ! Demyelinating Autoimmune Diseases, CNS [Term] id: DOID:9002764 name: Salivary Gland Fistula def: "A fistula between a salivary duct or gland and the cutaneous surface of the oral cavity." [MESH:D012467] synonym: "Salivary Gland Fistulas" EXACT [] xref: MESH:D012467 is_a: DOID:10854 ! salivary gland disease is_a: DOID:9008436 ! Oral Fistula [Term] id: DOID:9002765 name: Systemic Juvenile Rheumatoid Arthritis alt_id: MIM:604302 xref: EFO:1001999 xref: MESH:C565798 is_a: DOID:676 ! juvenile rheumatoid arthritis [Term] id: DOID:9002766 name: Knobloch Syndrome Type I synonym: "COL18A1-RELATED CONDITION" BROAD [] synonym: "KNO1" EXACT [] synonym: "Knobloch syndrome 1" EXACT [] xref: MIM:267750 xref: NCI:C201594 is_a: DOID:9002033 ! Knobloch Syndrome created_by: mtutaj creation_date: 2022-07-26T10:47:38Z [Term] id: DOID:9002767 name: Microhydranencephaly alt_id: MIM:605013 synonym: "Hydranencephaly and microcephaly" EXACT [] synonym: "MHAC" EXACT [] xref: MESH:C537555 is_a: DOID:10907 ! microcephaly is_a: DOID:4626 ! hydranencephaly [Term] id: DOID:9002768 name: Perrault Syndrome 2 synonym: "PRLTS2" EXACT [] xref: MIM:614926 is_a: DOID:0050857 ! Perrault syndrome [Term] id: DOID:9002769 name: Atrioventricular Septal Defect with Blepharophimosis and Anal and Radial Defects alt_id: MIM:600123 xref: MESH:C563994 is_a: DOID:0050651 ! atrioventricular septal defect is_a: DOID:10348 ! blepharophimosis is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9002770 name: Eosinophilic Synovitis synonym: "Idiopathic eosinophilic synovitis" EXACT [] synonym: "Shulman syndrome" EXACT [] xref: MESH:C535954 xref: RDO:0001341 is_a: DOID:2703 ! synovitis is_a: DOID:9001371 ! Eosinophilia [Term] id: DOID:9002771 name: Bryant-Li-Bhoj Neurodevelopmental Syndrome xref: MIM:PS619720 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2022-02-10T13:38:59Z [Term] id: DOID:9002772 name: Acute Rhinosinusitis def: "Acute inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES, having a sudden onset, sharp rise, and short course." [] is_a: DOID:9005941 ! Rhinosinusitis [Term] id: DOID:9002774 name: Mitochondrial DNA Depletion Syndrome, Myopathic Form synonym: "Mitochondrial DNA Depletion Myopathy, Autosomal Recessive" EXACT [] xref: MESH:C563698 is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9002775 name: Cognitive Dysfunction def: "Diminished or impaired mental and/or intellectual function." [MESH:D060825] synonym: "Cognitive Decline" EXACT [] synonym: "cognitive declines" EXACT [] synonym: "Cognitive Dysfunctions" EXACT [] synonym: "Cognitive Impairment" EXACT [] synonym: "Cognitive Impairments" EXACT [] synonym: "Mental Deterioration" EXACT [] synonym: "mental deteriorations" EXACT [] xref: MESH:D060825 is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:9002776 name: Abrikosov's Tumor synonym: "Abrikosoff's granulous cell tumor" EXACT [] synonym: "Abrikosoff's tumor" EXACT [] synonym: "Giant granulo-cellular Abrikosov's tumor" EXACT [] synonym: "Malignant variant of Abrikosov's tumor" EXACT [] xref: MESH:C535558 is_a: DOID:2999 ! granulosa cell tumor [Term] id: DOID:9002777 name: Brain Stem Neoplasms def: "Benign and malignant intra-axial tumors of the MESENCEPHALON; PONS; or MEDULLA OBLONGATA of the BRAIN STEM. Primary and metastatic neoplasms may occur in this location. Clinical features include ATAXIA, cranial neuropathies (see CRANIAL NERVE DISEASES), NAUSEA, hemiparesis (see HEMIPLEGIA), and quadriparesis. Primary brain stem neoplasms are more frequent in children. Histologic subtypes include GLIOMA; HEMANGIOBLASTOMA; GANGLIOGLIOMA; and EPENDYMOMA." [MESH:D020295] synonym: "Brain Stem Neoplasm" EXACT [] synonym: "Brainstem Neoplasm" EXACT [] synonym: "Brainstem Neoplasms" EXACT [] synonym: "Brain Stem Tumor" EXACT [] synonym: "Brainstem Tumor" EXACT [] synonym: "Brain Stem Tumors" EXACT [] synonym: "Brainstem Tumors" EXACT [] synonym: "Medullary Neoplasm" EXACT [] synonym: "Medullary Neoplasms" EXACT [] synonym: "Medullary Tumor" EXACT [] synonym: "Medullary Tumors" EXACT [] synonym: "Mesencephalic Neoplasm" EXACT [] synonym: "Mesencephalic Neoplasms" EXACT [] synonym: "Midbrain Neoplasm" EXACT [] synonym: "Midbrain Neoplasms" EXACT [] synonym: "Midbrain Tumor" EXACT [] synonym: "Midbrain Tumors" EXACT [] synonym: "Pontine Neoplasm" EXACT [] synonym: "Pontine Neoplasms" EXACT [] synonym: "Pontine Tumor" EXACT [] synonym: "Pontine Tumors" EXACT [] synonym: "Primary Brainstem Neoplasm" EXACT [] synonym: "Primary Brain Stem Neoplasms" EXACT [] synonym: "Primary Brainstem Neoplasms" EXACT [] xref: EFO:1001767 xref: MESH:D020295 xref: RDO:0007387 is_a: DOID:9001662 ! Infratentorial Neoplasms [Term] id: DOID:9002778 name: McPherson Clemens Syndrome alt_id: MIM:601165 synonym: "Cleft lip, cleft palate, characteristic facies, intestinal malrotation, and lethal congenital heart disease" EXACT [] synonym: "Cleft Lip-Palate with Characteristic Facies, Intestinal Malrotation, and Lethal Congenital Heart Disease" EXACT [] xref: MESH:C538160 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:8445 ! intestinal volvulus is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:9002779 name: Peripheral Neuropathy, Myopathy, Hoarseness, and Hearing Loss synonym: "MYH14-RELATED CONDITION" BROAD [] synonym: "PNMHH" EXACT [] xref: MIM:614369 xref: RDO:9000679 is_a: DOID:0080000 ! muscular disease is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008513 ! Hoarseness [Term] id: DOID:9002780 name: Recurrent Respiratory Papillomatosis alt_id: MIM:618803 alt_id: RDO:0000328 def: "An autosomal recessive disorder characterized by the development of recurrent growth of papillomas (warts) on respiratory epithelial cells in the upper airway, particularly the larynx. Patients present in early childhood with hoarse voice and, in severe cases, respiratory stridor due to airway obstruction." [] synonym: "congenital juvenile recurrent respiratory papillomatosis" EXACT [] synonym: "JRRP" EXACT [] synonym: "Juvenile laryngeal papilloma" EXACT [] synonym: "Juvenile-onset recurrent respiratory papillomatosis" EXACT [] synonym: "Laryngeal papilloma, recurrent" EXACT [] synonym: "Respiratory papillomatosis" EXACT [] synonym: "RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL" EXACT [] xref: MESH:C535297 is_a: DOID:11166 ! papillomavirus infectious disease is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:9002781 name: Zoonoses def: "Diseases of non-human animals that may be transmitted to HUMANS or may be transmitted from humans to non-human animals." [MESH:D015047] synonym: "Zoonotic Disease" EXACT [] synonym: "Zoonotic Diseases" EXACT [] synonym: "Zoonotic Infection" EXACT [] synonym: "Zoonotic Infections" EXACT [] synonym: "Zoonotic Infectious Disease" EXACT [] synonym: "Zoonotic Infectious Diseases" EXACT [] xref: MESH:D015047 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:9004384 ! Bacterial Infections and Mycoses is_a: DOID:9004985 ! Animal Diseases is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9002782 name: UV-Induced Skin Damage synonym: "Uv-induced skin damage, susceptibility to" RELATED [] xref: RDO:9000711 is_a: DOID:3159 ! photosensitivity disease [Term] id: DOID:9002783 name: Ganser Syndrome comment: Ganser syndrome was previously classified as a factitious disorder, but DSM-IV placed the syndrome under “Dissociative Disorders Not Otherwise Specified" (Diagnostic and Statistical Manual of Mental Disorders. 4th ed. 2000) is_a: DOID:10935 ! dissociative disorder created_by: mtutaj creation_date: 2020-01-24T09:44:20Z [Term] id: DOID:9002784 name: Chromosome Xq Duplication Syndrome synonym: "Chromosome Xq trisomy" EXACT [] synonym: "Dup(Xq) syndrome" EXACT [] synonym: "Duplication Xq" EXACT [] synonym: "Trisomy Xq" EXACT [] synonym: "X chromosome, trisomy Xq" EXACT [] xref: MESH:C536732 xref: RDO:0002398 is_a: DOID:225 ! syndrome is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9003960 ! Trisomy is_a: DOID:9004151 ! Sex Chromosome Disorders [Term] id: DOID:9002785 name: Vitamin B Deficiency def: "A condition due to deficiency in any member of the VITAMIN B COMPLEX. These B vitamins are water-soluble and must be obtained from the diet because they are easily lost in the urine. Unlike the lipid-soluble vitamins, they cannot be stored in the body fat." [MESH:D014804] synonym: "Vitamin B Deficiencies" EXACT [] xref: MESH:D014804 is_a: DOID:9004644 ! Avitaminosis [Term] id: DOID:9002786 name: Surgical Wound Infection def: "Infection occurring at the site of a surgical incision." [MESH:D013530] synonym: "Postoperative Wound Infection" EXACT [] synonym: "Postoperative Wound Infections" EXACT [] synonym: "Surgical Site Infection" EXACT [] synonym: "Surgical Site Infections" EXACT [] synonym: "Surgical Wound Infections" EXACT [] xref: MESH:D013530 is_a: DOID:9000790 ! Postoperative Complications is_a: DOID:9008861 ! Wound Infection [Term] id: DOID:9002787 name: MACROCEPHALY, ACQUIRED, WITH IMPAIRED INTELLECTUAL DEVELOPMENT synonym: "acquired macrocephaly with impaired intellectual development" EXACT [] synonym: "MACID" EXACT [] synonym: "MACROCEPHALY, ACQUIRED, WITH MENTAL RETARDATION" EXACT [] xref: MIM:618286 is_a: DOID:1059 ! intellectual disability is_a: DOID:9003816 ! Macrocephaly created_by: slaulede creation_date: 2020-12-14T17:54:41Z [Term] id: DOID:9002788 name: Lacunar Strokes def: "Stroke caused by lacunar infarction or other small vessel diseases of the brain. It features hemiparesis (see PARESIS), hemisensory, or hemisensory motor loss." [MESH:D059409] synonym: "Lacunar Infarct" EXACT [] synonym: "Lacunar Infarction" EXACT [] synonym: "Lacunar Infarctions" EXACT [] synonym: "Lacunar Infarcts" EXACT [] synonym: "lacunar stroke" EXACT [] synonym: "Lacunar Syndrome" EXACT [] synonym: "lacunar syndromes" EXACT [] xref: MESH:D059409 is_a: DOID:0112313 ! brain small vessel disease is_a: DOID:9007096 ! Stroke [Term] id: DOID:9002789 name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE def: "This is a disease which occurs predominantly in females, is characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems." [MIM:300958] synonym: "DDX3X-RELATED CONDITION" EXACT [] synonym: "DDX3X-RELATED X-LINKED INTELLECTUAL DISABILITY" EXACT [] synonym: "Mental Retardation, X-Linked 102" EXACT [] synonym: "MRX102" EXACT [] synonym: "MRXSSB" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder, Snijders Blok type" EXACT [] synonym: "X-LINKED INTELLECTUAL DISABILITY-HYPOTONIA-MOVEMENT DISORDER SYNDROME" EXACT [] xref: MIM:300958 xref: NCI:C129931 is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9002790 name: Elastosis Perforans Serpiginosa alt_id: MIM:130100 synonym: "Elastoma intrapapillare perforans verruciformis" EXACT [] synonym: "Miescher elastoma" EXACT [] xref: MESH:C536202 is_a: DOID:37 ! skin disease [Term] id: DOID:9002791 name: Microcephaly, Epilepsy, and Diabetes Syndrome synonym: "MEDS" EXACT [] xref: MIM:PS614231 is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9002792 name: Chromosome 1 Ring xref: MESH:C535361 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9002793 name: Camptodactyly 1 alt_id: MIM:114200 synonym: "CAMPD1" EXACT [] synonym: "Camptodactyly And Knuckle Pads" EXACT [] synonym: "CAMPTODACTYLY AND KNUCKLE PADS STREBLODACTYLY" NARROW [] xref: MESH:C567780 is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9002794 name: NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES synonym: "DHX37-RELATED CONDITION" BROAD [] synonym: "NEDBAVC" EXACT [] xref: MIM:618731 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2020-02-13T18:33:43Z [Term] id: DOID:9002795 name: Progressive Microcephaly with Seizures and Cerebral and Cerebellar Atrophy def: "A severe autosomal recessive neurodevelopmental and neurodegenerative disorder with onset in the first days or months of life. (OMIM)" [] synonym: "MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY" EXACT [] synonym: "MSCCA" EXACT [] xref: MIM:615760 is_a: DOID:0070338 ! cerebellar hypoplasia is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9004462 ! Atrophy [Term] id: DOID:9002796 name: Benign Recurrent Vertigo 2 alt_id: MIM:613106 synonym: "BRV2" EXACT [] xref: MESH:C567749 is_a: DOID:13941 ! benign paroxysmal positional vertigo [Term] id: DOID:9002797 name: Florid Cystic Endosalpingiosis of the Uterus alt_id: RDO:0002827 synonym: "Cystic endosalpingiosis of the uterus" EXACT [] xref: MESH:C537064 is_a: DOID:3111 ! cystadenocarcinoma is_a: DOID:9000189 ! Fallopian Tube Neoplasms [Term] id: DOID:9002798 name: Macrophage Activation Syndrome def: "A serious complication of childhood systemic inflammatory disorders that is thought to be caused by excessive activation and proliferation of T-LYMPHOCYTES and MACROPHAGES. It is seen predominantly in children with systemic onset JUVENILE IDIOPATHIC ARTHRITIS." [MESH:D055501] xref: EFO:1001806 xref: MESH:D055501 xref: RDO:0007709 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9002799 name: Familial Popliteal Pterygium Syndrome synonym: "Lewis Pashayan syndrome" EXACT [] xref: MESH:C535891 is_a: DOID:0060055 ! popliteal pterygium syndrome is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9002800 name: Infantile Polymyoclonus xref: MESH:C535524 xref: MIM:263550 xref: MONDO:0009896 is_a: DOID:9001087 ! Opsoclonus-Myoclonus Syndrome [Term] id: DOID:9002801 name: Recurrence def: "The return of a sign, symptom, or disease after a remission." [MESH:D012008] synonym: "disease recurrence" EXACT [] synonym: "Recrudescence" EXACT [] synonym: "Recrudescences" EXACT [] synonym: "Recurrences" EXACT [] synonym: "Relapse" EXACT [] synonym: "Relapses" EXACT [] xref: EFO:0004952 xref: MESH:D012008 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9002802 name: Acidoses def: "A pathologic condition of acid accumulation or depletion of base in the body. The two main types are RESPIRATORY ACIDOSIS and metabolic acidosis, due to metabolic acid build up." [] synonym: "acidosis" EXACT [] xref: EFO:1000014 xref: MESH:D000138 is_a: DOID:9006795 ! Acid-Base Imbalance [Term] id: DOID:9002803 name: Chronic Exertional Compartment Syndrome def: "Compartment syndrome characterized by pain in muscle groups with elevated compartment pressures due most often exercise training in athletes. Most often encountered chronic exertional compartment syndrome is in the anterior or deep posterior compartments of the lower leg in athletes in training similar to POPLITEAL ARTERY ENTRAPMENT SYNDROME. (MESH)" [] xref: MESH:D000083182 is_a: DOID:682 ! compartment syndrome created_by: mtutaj creation_date: 2020-12-21T21:23:05Z [Term] id: DOID:9002804 name: Amaurosis Fugax def: "Transient complete or partial monocular blindness due to retinal ischemia. This may be caused by emboli from the CAROTID ARTERY (usually in association with CAROTID STENOSIS) and other locations that enter the central RETINAL ARTERY. (From Adams et al., Principles of Neurology, 6th ed, p245)" [MESH:D020757] synonym: "Transient Monocular Blindness" EXACT [] xref: MESH:D020757 xref: RDO:0007423 is_a: DOID:1432 ! blindness [Term] id: DOID:9002805 name: Enterocolitis alt_id: MIM:226150 def: "Inflammation of the MUCOSA of both the SMALL INTESTINE and the LARGE INTESTINE. Etiology includes ISCHEMIA, infections, allergic, and immune responses." [MESH:D004760] synonym: "enterocolitides" EXACT [] xref: EFO:1001481 xref: MESH:D004760 is_a: DOID:2326 ! gastroenteritis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9002806 name: Acquired Pulmonary Alveolar Proteinosis alt_id: MIM:610910 synonym: "Pulmonary Alveolar Lipoproteinosis, Acquired" EXACT [] synonym: "Pulmonary Alveolar Proteinosis, Autoimmune" EXACT [] xref: MESH:C567049 xref: NCI:C202011 is_a: DOID:12120 ! pulmonary alveolar proteinosis is_a: DOID:417 ! autoimmune disease [Term] id: DOID:9002807 name: Fryns Macrocephaly alt_id: MIM:600302 synonym: "Macrocephaly with Spastic Paraplegia and Distinctive Craniofacial Appearance" EXACT [] xref: MESH:C563963 is_a: DOID:607 ! paraplegia is_a: DOID:9001487 ! Facies is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9002809 name: Congenital Heart Defects, Multiple Types, 4 synonym: "CHTD4" EXACT [] synonym: "multiple types of congenital heart defects 4" EXACT [] xref: MIM:615779 is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types [Term] id: DOID:9002810 name: Gastrointestinal Defects and Immunodeficiency Syndrome 2 def: "A severe autosomal recessive developmental disorder characterized by multiple intestinal atresia apparent soon after birth. Caused by homozygous mutation in the PI4KA gene on chromosome 22q11." [MIM:619708] synonym: "GIDID2" EXACT [] synonym: "multiple intestinal atresia with or without leukopenia" EXACT [] xref: MIM:619708 xref: MONDO:0030669 is_a: DOID:10486 ! intestinal atresia is_a: DOID:9009203 ! Gastrointestinal defects and immunodeficiency syndrome created_by: mtutaj creation_date: 2022-01-27T09:49:48Z [Term] id: DOID:9002811 name: Facial Dysmorphism with Multiple Malformations alt_id: MIM:227255 xref: MESH:C565579 is_a: DOID:767 ! muscular atrophy is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9002812 name: Elevated Adenosine Triphosphate of Erythrocytes alt_id: MIM:102900 def: "Autosomal dominant phenotype characterized by increase of red blood cell ATP." [EFO:0005840] synonym: "adenosine triphosphate, elevated, of erythrocytes" EXACT [] synonym: "PKHYP" EXACT [] synonym: "PKLR-RELATED CONDITION" BROAD [] synonym: "Pyruvate Kinase Hyperactivity" EXACT [] xref: EFO:0005840 xref: MESH:C566310 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:9002813 name: Peroxisome Biogenesis Disorder, Complementation Group R xref: MESH:C566635 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9002814 name: Glycogen Storage Disease IIIC synonym: "GSD IIIC" EXACT [] xref: MESH:C566891 is_a: DOID:2748 ! glycogen storage disease III [Term] id: DOID:9002815 name: Generalized Severe Epidermolysis Bullosa Simplex 2A def: "An autosomal dominant skin disorder characterized by extensive intraepidermal blistering after minor mechanical stress since birth with herpetiform marginal spreading and central healing. Caused by heterozygous mutation in the KRT5 gene on chromosome 12q13. (OMIM)" [] synonym: "EBS2A" EXACT [] synonym: "epidermolysis bullosa simplex 2A, Dowling-Meara type" EXACT [] xref: MIM:619555 is_a: DOID:0060735 ! epidermolysis bullosa simplex Dowling-Meara type created_by: mtutaj creation_date: 2021-11-03T11:51:09Z [Term] id: DOID:9002816 name: CHOPRA-AMIEL-GORDON SYNDROME def: "This disease is an autosomal dominant disorder characterized by developmental delay and/or impaired intellectual development, speech delay, facial dysmorphism, and variable other features." [MIM:619504] synonym: "CAGS" EXACT [] xref: MIM:619504 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2021-10-15T13:47:57Z [Term] id: DOID:9002817 name: Metaphyseal Chondrodysplasia with Cone-Shaped Epiphyses, Normal Hair, and Normal Hands synonym: "Cupped metaphyses and cone-shaped epiphyses without alopecia or brachydactyly" EXACT [] xref: MESH:C537354 is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia [Term] id: DOID:9002818 name: Degloving Injuries def: "Avulsions of the superficial tissues of SKIN and SUBCUTANEOUS TISSUE from the underlying FASCIA." [MESH:D000069836] synonym: "Degloving Injury" EXACT [] synonym: "Degloving Wound" EXACT [] synonym: "Degloving Wounds" EXACT [] synonym: "Skin Avulsion" EXACT [] synonym: "Skin Avulsion Injuries" EXACT [] synonym: "Skin Avulsion Injury" EXACT [] synonym: "Skin Avulsions" EXACT [] xref: MESH:D000069836 xref: RDO:0016081 is_a: DOID:9001913 ! Soft Tissue Injuries [Term] id: DOID:9002819 name: Coronary Occlusion def: "Complete blockage of blood flow through one of the CORONARY ARTERIES, usually from CORONARY ATHEROSCLEROSIS." [MESH:D054059] synonym: "Coronary Occlusions" EXACT [] xref: MESH:D054059 is_a: DOID:9000528 ! Coronary Disease [Term] id: DOID:9002820 name: Adams Nance Syndrome synonym: "Tachycardia hypertension microphthalmos hyperglycinuria" EXACT [] xref: MESH:C538224 is_a: DOID:10629 ! microphthalmia is_a: DOID:10763 ! hypertension is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9004669 ! Paroxysmal Tachycardia is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9002821 name: Bifid Femur with Monodactylous Ectrodactyly alt_id: MIM:228250 synonym: "Gollop-Wolfgang complex" EXACT [] synonym: "Unilateral Bifid Femur with Monodactylous Ectrodactyly" EXACT [] xref: MESH:C537917 is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002822 name: Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis alt_id: RDO:0014665 xref: MESH:C566263 is_a: DOID:3145 ! hyperlipoproteinemia type III is_a: DOID:3345 ! xanthomatosis [Term] id: DOID:9002823 name: Gram-Positive Bacterial Infections def: "Infections caused by bacteria that retain the crystal violet stain (positive) when treated by the gram-staining method." [MESH:D016908] synonym: "Enterococcus faecalis infection" NARROW [] synonym: "Gram-Positive Bacterial Infection" EXACT [] xref: EFO:0000780 xref: MESH:D016908 is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:9002824 name: Vaginal Fistula def: "An abnormal anatomical passage that connects the VAGINA to other organs, such as the bladder (VESICOVAGINAL FISTULA) or the rectum (RECTOVAGINAL FISTULA)." [MESH:D014624] synonym: "female genital tract fistula" EXACT [] synonym: "Vaginal Fistulas" EXACT [] xref: EFO:0009524 xref: MESH:D014624 is_a: DOID:121 ! vaginal disease is_a: DOID:9007343 ! Fistula [Term] id: DOID:9002825 name: Leichtman Wood Rohn Syndrome synonym: "Anophthalmia, cleft lip-palate, facial anomalies, and CNS anomalies and hypothalamic disorder" EXACT [] xref: MESH:C537003 xref: RDO:0002742 is_a: DOID:225 ! syndrome is_a: DOID:9002049 ! Anophthalmia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9002826 name: Somatic Leydig Cell Adenoma, with Male-Limited Precocious Puberty xref: MESH:C567168 is_a: DOID:2696 ! Leydig cell tumor is_a: DOID:657 ! adenoma is_a: DOID:9007284 ! Precocious Puberty [Term] id: DOID:9002827 name: Porcine Postweaning Multisystemic Wasting Syndrome def: "A worldwide emerging disease of weaned piglets first recognized in swine herds in western Canada in 1997. This syndrome is characterized by progressive weight loss, rapid (tachypnea) and difficult (dyspnea) breathing, and yellowing of skin. PMWS is caused by PORCINE CIRCOVIRUS infection, specifically type 2 or PCV-2." [MESH:D053570] synonym: "postweaning multisystemic wasting syndrome" EXACT [] xref: EFO:1000048 xref: MESH:D053570 xref: RDO:0007625 is_a: DOID:225 ! syndrome is_a: DOID:9008435 ! Swine Diseases is_a: DOID:9008580 ! Circoviridae Infections [Term] id: DOID:9002829 name: Ciuffo Syndrome alt_id: MIM:178650 synonym: "Pulmonic Stenosis, Atrial Septal Defect, and Unique Electrocardiographic Abnormalities" EXACT [] xref: MESH:C566733 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:225 ! syndrome is_a: DOID:6420 ! pulmonary valve stenosis [Term] id: DOID:9002830 name: Spondylometaphyseal Dysplasia Pagnamenta Type def: "Characterized by short stature and mild platyspondyly with no disproportion between the limbs. Caused by homozygous mutation in the PRKG2 gene on chromosome 4q21." [MIM:619638] synonym: "SMDP" EXACT [] xref: MIM:619638 is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: mtutaj creation_date: 2021-11-30T10:20:38Z [Term] id: DOID:9002833 name: Exertional Myalgia, Muscle Stiffness and Myoglobinuria is_a: DOID:0080108 ! myoglobinuria is_a: DOID:9003760 ! Myalgia [Term] id: DOID:9002834 name: Herpesviridae Infections def: "Virus diseases caused by the HERPESVIRIDAE." [MESH:D006566] synonym: "Herpesviridae Infection" EXACT [] synonym: "Herpesviridae infectious disease" EXACT [] synonym: "Herpesvirus Infection" EXACT [] synonym: "Herpesvirus Infections" EXACT [] xref: EFO:0007309 xref: MESH:D006566 xref: RDO:0005189 is_a: DOID:9000251 ! DNA Virus Infections [Term] id: DOID:9002837 name: Ape Diseases def: "Diseases of chimpanzees, gorillas, and orangutans." [MESH:D018420] synonym: "Ape Disease" EXACT [] synonym: "Pongidae Disease" EXACT [] synonym: "Pongidae Diseases" EXACT [] xref: MESH:D018420 xref: RDO:0007197 is_a: DOID:9001374 ! Primate Diseases [Term] id: DOID:9002838 name: Muscle Diastasis def: "Abnormal separation of muscles." [MESH:D000070630] synonym: "Muscle Diastases" EXACT [] synonym: "Myodiastases" EXACT [] synonym: "Myodiastasis" EXACT [] xref: MESH:D000070630 is_a: DOID:9003279 ! Joint Dislocations [Term] id: DOID:9002839 name: Rahman Syndrome def: "This is a disease characterized by mild to severe intellectual disability associated with variable somatic overgrowth manifest as increased birth length, height, weight, and/or head circumference." [MIM:617537] synonym: "HIST1H1E-RELATED NEURODEVELOPMENTAL DISORDER WITH MULTIPLE ANOMALIES" EXACT [] synonym: "RMNS" EXACT [] xref: MIM:617537 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9006084 ! Gigantism created_by: rgd creation_date: 2017-07-12T00:00:00Z [Term] id: DOID:9002840 name: Endometrial Hyperplasia without Atypia def: "This disease is simple or complex endometrial hyperplasia characterized by the absence of epithelial atypia." [NCI:C40157] synonym: "typical endometrial hyperplasia" EXACT [] xref: EFO:1000234 is_a: DOID:0080365 ! endometrial hyperplasia created_by: slaulede creation_date: 2023-01-20T12:57:20Z [Term] id: DOID:9002842 name: Phacomatosis Pigmentovascularis xref: MESH:C537894 is_a: DOID:9001734 ! Neurocutaneous Syndromes [Term] id: DOID:9002843 name: Waardenburg Syndrome Type 2 synonym: "WAARDENBURG SYNDROME TYPE 2D" NARROW [] synonym: "WS2" EXACT [] xref: NCI:C75009 is_a: DOID:9258 ! Waardenburg syndrome created_by: mtutaj creation_date: 2022-07-06T10:34:10Z [Term] id: DOID:9002844 name: Bunion, Tailor's def: "Abnormal swelling of the outer aspect of the fifth metatarsal head affecting the fifth METATARSOPHALANGEAL JOINT." [MESH:D050489] synonym: "Bunionette" EXACT [] synonym: "Bunionettes" EXACT [] synonym: "Tailor's Bunions" EXACT [] synonym: "Tailors Bunion" EXACT [] xref: MESH:D050489 is_a: DOID:9004341 ! Bunion [Term] id: DOID:9002845 name: Astroviridae Infections def: "Infections with ASTROVIRUS, causing gastroenteritis in human infants, calves, lambs, and piglets." [MESH:D019350] synonym: "Astroviridae Infection" EXACT [] xref: EFO:0007158 xref: MESH:D019350 xref: RDO:0007271 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9002846 name: bowenoid papulosis def: "This disease is characterized by multiple maculopapular lesions that can form brownish plaques anywhere in the anogenital region. It is a rare, highly contagious sexually-transmitted infection associated with HPV-16 or other less frequent HPV subtype." [PMID:28667573] synonym: "BP" EXACT [] is_a: DOID:1529 ! penile disease is_a: DOID:2059 ! vulvar disease is_a: DOID:7380 ! squamous cell papilloma of skin is_a: DOID:9003767 ! Viral Sexually Transmitted Diseases is_a: DOID:9007320 ! Squamous Intraepithelial Lesions created_by: slaulede creation_date: 2022-07-07T16:19:57Z [Term] id: DOID:9002847 name: Serositis def: "Inflammation of a serous membrane." [MESH:D012700] synonym: "Serositides" EXACT [] xref: MESH:D012700 is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9002848 name: Familial Atrial Fibrillation 9 synonym: "ATFB9" EXACT [] xref: MIM:613980 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9002850 name: Immediate Hypersensitivity alt_id: RDO:0001896 def: "Hypersensitivity reactions which occur within minutes of exposure to challenging antigen due to the release of histamine which follows the antigen-antibody reaction and causes smooth muscle contraction and increased vascular permeability." [MESH:D006969] synonym: "Atopic Hypersensitivities" EXACT [] synonym: "Atopic Hypersensitivity" EXACT [] synonym: "IgE-Mediated Hypersensitivities" EXACT [] synonym: "IgE Mediated Hypersensitivity" EXACT [] synonym: "Immediate Hypersensitivities" EXACT [] synonym: "Type I Hypersensitivities" EXACT [] synonym: "Type I Hypersensitivity" EXACT [] xref: MESH:D006969 is_a: DOID:1205 ! allergic disease [Term] id: DOID:9002851 name: Medullary Sponge Kidney def: "A non-hereditary KIDNEY disorder characterized by the abnormally dilated (ECTASIA) medullary and inner papillary portions of the collecting ducts. These collecting ducts usually contain CYSTS or DIVERTICULA filled with jelly-like material or small calculi (KIDNEY STONES) leading to infections or obstruction. It should be distinguished from congenital or hereditary POLYCYSTIC KIDNEY DISEASES." [MESH:D007691] synonym: "Cacchi Ricci Disease" EXACT [] synonym: "Cacchi Ricci Syndrome" EXACT [] synonym: "Medullary Sponge Kidneys" EXACT [] synonym: "Precalyceal Canalicular Ectasia" EXACT [] synonym: "Precalyceal Canalicular Ectasias" EXACT [] synonym: "Sponge Kidney" EXACT [] synonym: "Sponge Kidneys" EXACT [] xref: MESH:D007691 xref: RDO:0000163 is_a: DOID:2975 ! cystic kidney disease [Term] id: DOID:9002852 name: Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders alt_id: MIM:604363 xref: MESH:C565786 is_a: DOID:150 ! disease of mental health is_a: DOID:4448 ! macular degeneration is_a: DOID:9005154 ! Myoclonic Epilepsies is_a: DOID:9008681 ! Deafness [Term] id: DOID:9002853 name: Microcephaly, Congenital Cataract, and Psoriasiform Dermatitis def: "An inborn error of cholesterol metabolism that is characterized by accumulation of a large amount of methylsterols, particularly dimethylsterols." [MIM:616834] synonym: "MCCPD" EXACT [] synonym: "MICROCEPHALY, CONGENITAL CATARACTS, AND PSORIASIFORM DERMATITIS" EXACT [] synonym: "SC4MOL DEFICIENCY" EXACT [] xref: MIM:616834 is_a: DOID:10907 ! microcephaly is_a: DOID:2723 ! dermatitis is_a: DOID:83 ! cataract [Term] id: DOID:9002854 name: Noonan Syndrome-Like Disorder with or without Juvenile Myelomonocytic Leukemia synonym: "CBL mutation-associated syndrome" EXACT [] synonym: "CBL SYNDROME" EXACT [] synonym: "Noonan syndrome-like disorder with juvenile myelomonocytic leukemia" NARROW [] synonym: "NSLL" EXACT [] xref: MIM:613563 xref: MONDO:0013308 is_a: DOID:0050458 ! juvenile myelomonocytic leukemia is_a: DOID:9003091 ! Noonan Like Syndrome [Term] id: DOID:9002855 name: Vascular Headaches def: "Secondary headache disorders attributed to a variety of cranial or cervical vascular disorders, such as BRAIN ISCHEMIA; INTRACRANIAL HEMORRHAGES; and CENTRAL NERVOUS SYSTEM VASCULAR MALFORMATIONS." [MESH:D014653] synonym: "Vascular Cephalgia" EXACT [] synonym: "Vascular Cephalgias" EXACT [] synonym: "Vascular Headache" EXACT [] xref: MESH:D014653 xref: RDO:0006805 is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9005633 ! Headache Disorders, Secondary [Term] id: DOID:9002856 name: Cutaneous Telangiectasia and Cancer Syndrome, Familial synonym: "ATR-RELATED CONDITION" BROAD [] synonym: "familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome" EXACT [] synonym: "FCTCS" EXACT [] xref: MIM:614564 xref: MONDO:0013806 xref: ORDO:313846 is_a: DOID:1272 ! telangiectasis is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:9000906 ! Oropharyngeal Neoplasms is_a: DOID:987 ! alopecia [Term] id: DOID:9002857 name: HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY synonym: "Hypomagnesemia, Seizures, and Mental Retardation" EXACT [] xref: MIM:PS616418 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:447 ! renal tubular transport disease created_by: mtutaj creation_date: 2019-03-26T14:49:36Z [Term] id: DOID:9002858 name: Sclerema Neonatorum def: "A severe, sometimes fatal, disorder of adipose tissue occurring chiefly in preterm or debilitated infants suffering from an underlying illness and manifested by a diffuse, nonpitting induration of the affected tissue. The skin becomes cold, yellowish, mottled, and inflexible." [MESH:D012593] xref: MESH:D012593 is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9002859 name: Parkinson's Disease 13 synonym: "HTRA2-RELATED CONDITION" BROAD [] synonym: "PARK13" EXACT [] synonym: "Parkinson's disease 13, autosomal dominant" EXACT [] synonym: "Parkinson's Disease 13, Autosomal Dominant, Susceptibility To" RELATED [] synonym: "PARKINSON'S DISEASE 13, SUSCEPTIBILITY TO" RELATED [] synonym: "Parkinson Disease 13" EXACT [] synonym: "Parkinson disease 13, autosomal dominant" EXACT [] synonym: "Parkinson Disease 13, Autosomal Dominant, Susceptibility To" RELATED [] synonym: "PARKINSON DISEASE 13, SUSCEPTIBILITY TO" RELATED [] xref: MESH:C565204 xref: MIM:610297 xref: MONDO:0012466 is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:9002860 name: Cardiac Edema def: "Abnormal fluid retention by the body due to impaired cardiac function or heart failure. It is usually characterized by increase in venous and capillary pressure, and swollen legs when standing. It is different from the generalized edema caused by renal dysfunction (NEPHROTIC SYNDROME)." [MESH:D004489] synonym: "Cardiac Edemas" EXACT [] xref: EFO:1001771 xref: MESH:D004489 is_a: DOID:6000 ! congestive heart failure is_a: DOID:9000197 ! Edema [Term] id: DOID:9002861 name: Capillary Malformation-Arteriovenous Malformation 2 def: "An autosomal dominant disorder with variable expressivity. Patients have small multifocal cutaneous capillary malformations (CMs) on the head, neck, trunk, and/or extremities, sometimes in association with arteriovenous malformations (AVMs), which are typically located in the brain, face, or extremities." [MIM:618196] synonym: "CMAVM2" EXACT [] synonym: "EPHB4-ASSOCIATED VASCULAR MALFORMATION SPECTRUM" BROAD [] synonym: "EPHB4-RELATED CONDITION" BROAD [] synonym: "EPHB4-RELATED DISORDERS" BROAD [] xref: MIM:618196 is_a: DOID:9005469 ! Capillary Malformation-Arteriovenous Malformation created_by: slaulede creation_date: 2019-01-11T10:13:24Z [Term] id: DOID:9002862 name: Craniosynostosis 3 synonym: "coronal craniosynostosis" EXACT [] synonym: "CRS3" EXACT [] xref: MIM:615314 is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9002863 name: Corneal Endothelial Cell Loss def: "Loss of CORNEAL ENDOTHELIUM usually following intraocular surgery (e.g., cataract surgery) or due to FUCHS' ENDOTHELIAL DYSTROPHY; ANGLE-CLOSURE GLAUCOMA; IRITIS; or aging." [MESH:D055954] synonym: "Corneal Endothelial Cell Damage" EXACT [] xref: MESH:D055954 xref: RDO:0007727 is_a: DOID:10124 ! corneal disease is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9002865 name: Neonatal Hemochromatosis alt_id: MIM:231100 synonym: "congenital alloimmune hepatitis" EXACT [] synonym: "giant cell hepatitis" RELATED [] synonym: "idiopathic neonatal hemochromatosis" EXACT [] synonym: "neonatal hepatitis" RELATED [] synonym: "NH" EXACT [] synonym: "NHC" EXACT [] xref: GARD:7172 xref: MESH:C536394 xref: MONDO:0009275 xref: NCI:C129980 xref: ORDO:446 is_a: DOID:2352 ! hemochromatosis [Term] id: DOID:9002866 name: Familial Multiple Coagulation Factor Deficiency II alt_id: MIM:134510 synonym: "F8F9D" EXACT [] synonym: "Factor VIII And Factor IX, Combined Deficiency" EXACT [] synonym: "FMFD II" EXACT [] xref: MESH:C565024 is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:9002867 name: Myeloid Leukemia, Chronic-Phase def: "The initial phase of chronic myeloid leukemia consisting of an relatively indolent period lasting from 4 to 7 years. Patients range from asymptomatic to those exhibiting ANEMIA; SPLENOMEGALY; and increased cell turnover. There are 5% or fewer blast cells in the blood and bone marrow in this phase." [MESH:D015466] synonym: "Chronic Granulocytic Leukemia, Stable Phase" EXACT [] synonym: "Chronic Myelogenous Leukemia, Chronic Phase" EXACT [] synonym: "Chronic Myeloid Leukemia, Chronic Phase" EXACT [] synonym: "Chronic Myeloid Leukemia, Stable-Phase" EXACT [] synonym: "Granulocytic Leukemia, Chronic Phase" EXACT [] synonym: "Myelogenous Leukemia, Chronic Phase" EXACT [] synonym: "Myeloid Leukemia, Stable Phase" EXACT [] xref: MESH:D015466 is_a: DOID:8552 ! chronic myeloid leukemia [Term] id: DOID:9002868 name: Lactate Dehydrogenase B Deficiency alt_id: MIM:614128 synonym: "LDHBD" EXACT [] xref: MESH:C563641 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9002869 name: Schistosomiasis Mansoni alt_id: MIM:181460 def: "Schistosomiasis caused by Schistosoma mansoni. It is endemic in Africa, the Middle East, South America, and the Caribbean and affects mainly the bowel, spleen, and liver." [MESH:D012555] synonym: "Schistosoma mansoni infection" EXACT [] synonym: "Schistosoma mansoni infections" EXACT [] synonym: "schistosoma mansoni infection, susceptibility/resistance to" RELATED [] synonym: "schistosoma mansoni infectious disease" EXACT [] synonym: "schistosoma mansoni, intensity of infection by" RELATED [] synonym: "SM1" EXACT [] xref: EFO:1001420 xref: MESH:D012555 xref: NCI:C35002 is_a: DOID:0050597 ! intestinal schistosomiasis [Term] id: DOID:9002870 name: Oocyte/Zygote/Embryo Maturation Arrest 20 def: "A disease characterized by early embryonic arrest with fragmentation. Caused by homozygous or compound heterozygous mutation in the MOS gene on chromosome 8q12." [MIM:620383] synonym: "OZEMA20" EXACT [] xref: MIM:620383 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2023-05-30T14:46:21Z [Term] id: DOID:9002871 name: Erythema Palmare Hereditarium alt_id: MIM:133000 xref: MESH:C565041 is_a: DOID:3158 ! hand dermatosis [Term] id: DOID:9002872 name: Popov-Chang Syndrome synonym: "NEDISDF" EXACT [] synonym: "neurodevelopmental disorder with impaired speech and dysmorphic features" EXACT [] synonym: "POPCHAS" EXACT [] is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:92 ! speech disorder created_by: mtutaj creation_date: 2019-06-25T12:23:14Z [Term] id: DOID:9002873 name: Adrenal Incidentaloma xref: MESH:C538238 is_a: DOID:9000362 ! Adrenal Gland Neoplasms [Term] id: DOID:9002874 name: Liver Fibrocystic Disease and Polydactyly alt_id: MIM:605944 xref: MESH:C565272 is_a: DOID:1148 ! polydactyly is_a: DOID:409 ! liver disease [Term] id: DOID:9002875 name: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN def: "This disease is characterized by clinically significant pharyngeal lymphoid hypertrophy, with adenoid overgrowth, frequent upper airway infections, and sleep apnea. Macrocephaly without structural brain abnormalities is present, and patients exhibit increased weight for height as well as delayed gross motor and impaired intellectual development." [MIM:619769] synonym: "MNDLFH" EXACT [] xref: MIM:619769 is_a: DOID:9002221 ! Hyperplasia is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-05-03T14:23:34Z [Term] id: DOID:9002876 name: Pancreatic Pseudocyst def: "Cyst-like space not lined by EPITHELIUM and contained within the PANCREAS. Pancreatic pseudocysts account for most of the cystic collections in the pancreas and are often associated with chronic PANCREATITIS." [MESH:D010192] synonym: "Pancreatic Pseudocysts" EXACT [] xref: MESH:D010192 is_a: DOID:9006554 ! Pancreatic Cyst [Term] id: DOID:9002877 name: Parkinson's Disease, Mitochondrial alt_id: MIM:556500 synonym: "Parkinson Disease, Mitochondrial" EXACT [] xref: MESH:C564015 xref: RDO:0013117 is_a: DOID:14330 ! Parkinson's disease is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9002878 name: Cephalopelvic Disproportion def: "A condition in which the HEAD of the FETUS is larger than the mother's PELVIS through which the fetal head must pass during a vaginal delivery." [MESH:D052178] xref: MESH:D052178 is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:9002879 name: Juvenile Spring Eruption of Ears alt_id: RDO:0015034 xref: MESH:C566781 is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9002880 name: Psoas Abscess def: "Abscess of the PSOAS MUSCLES resulting usually from disease of the lumbar vertebrae, with the pus descending into the muscle sheath. The infection is most commonly tuberculous or staphylococcal." [MESH:D016659] synonym: "Iliopsoas Abscess" EXACT [] synonym: "Iliopsoas Abscesses" EXACT [] synonym: "Psoas Abscesses" EXACT [] synonym: "Pyogenic Iliopsoas Abscess" EXACT [] synonym: "Pyogenic Iliopsoas Abscesses" EXACT [] xref: EFO:1001832 xref: MESH:D016659 is_a: DOID:9000325 ! Abscess [Term] id: DOID:9002881 name: Cyclic Vomiting Syndrome-Plus synonym: "CVS-Plus" EXACT [] xref: MESH:C564023 is_a: DOID:9001580 ! Cyclic Vomiting Syndrome [Term] id: DOID:9002882 name: Long-Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency alt_id: MIM:609016 synonym: "deficiency of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase" EXACT [] synonym: "deficiency of long-chain acyl-CoA dehydrogenase" EXACT [] synonym: "HADHA-RELATED CONDITION" BROAD [] synonym: "HADHA-related disorder" BROAD [] synonym: "LCHAD deficiency" EXACT [] synonym: "LCHAD deficiency with maternal acute fatty liver of pregnancy" EXACT [] synonym: "long-chain acyl-CoA dehydrogenase deficiency" EXACT [] xref: GARD:6867 xref: MESH:C535690 xref: NCI:C129929 xref: ORDO:5 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9002883 name: Aortic Aneurysm, Giant Congenital xref: MESH:C565758 is_a: DOID:3627 ! aortic aneurysm [Term] id: DOID:9002884 name: Emphysema def: "A pathological accumulation of air in tissues or organs." [MESH:D004646] synonym: "Emphysema, susceptibility to" RELATED [] synonym: "PI I" RELATED [] synonym: "PI M(MALTON)" RELATED [] synonym: "PI M(MINERAL SPRINGS)" RELATED [] synonym: "PI M(PROCIDA)" RELATED [] synonym: "PI NULL(Hong Kong 1)" RELATED [] synonym: "PI Q0(Hong Kong 1)" RELATED [] synonym: "PI S" RELATED [] xref: MESH:D004646 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9002885 name: Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, and Mental Retardation alt_id: MIM:603133 xref: MESH:C566408 is_a: DOID:0060249 ! scoliosis is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:83 ! cataract is_a: DOID:9008681 ! Deafness [Term] id: DOID:9002886 name: Auditory Perceptual Disorders def: "Acquired or developmental cognitive disorders of AUDITORY PERCEPTION characterized by a reduced ability to perceive information contained in auditory stimuli despite intact auditory pathways. Affected individuals have difficulty with speech perception, sound localization, and comprehending the meaning of inflections of speech." [MESH:D001308] synonym: "Acoustic Perceptual Disorder" EXACT [] synonym: "Acoustic Perceptual Disorders" EXACT [] synonym: "Auditory Comprehension Disorder" EXACT [] synonym: "Auditory Comprehension Disorders" EXACT [] synonym: "Auditory Inattention" EXACT [] synonym: "Auditory Inattentions" EXACT [] synonym: "Auditory Perceptual Disorder" EXACT [] synonym: "Auditory Processing Disorder" EXACT [] synonym: "Auditory Processing Disorders" EXACT [] synonym: "Psychoacoustical Disorder" EXACT [] synonym: "Psychoacoustical Disorders" EXACT [] xref: MESH:D001308 is_a: DOID:1561 ! cognitive disorder is_a: DOID:9004523 ! Perceptual Disorders is_a: DOID:9008117 ! Central Auditory Diseases [Term] id: DOID:9002887 name: Monday Morning Fever xref: MESH:C531641 xref: RDO:0000069 is_a: DOID:10323 ! byssinosis [Term] id: DOID:9002888 name: Duodenal Ulcer due to Antral G-Cell Hyperfunction alt_id: MIM:126840 synonym: "Hypergastrinemic, hyperpepsinogenemic duodenal ulcer" EXACT [] xref: MESH:C535721 is_a: DOID:1724 ! duodenal ulcer [Term] id: DOID:9002889 name: Jaffer Beighton Syndrome synonym: "Arachnodactyly, joint laxity, and spondylolisthesis" EXACT [] xref: MESH:C537561 is_a: DOID:225 ! syndrome is_a: DOID:6682 ! spondylolisthesis is_a: DOID:9005077 ! Joint Instability is_a: DOID:9005367 ! Arachnodactyly [Term] id: DOID:9002890 name: Pseudohypoaldosteronism, Type IIA alt_id: MIM:145260 alt_id: RDO:0013209 synonym: "Gordon hyperkalemia-hypertension syndrome" EXACT [] synonym: "PHA2A" EXACT [] xref: MESH:C564160 is_a: DOID:4479 ! pseudohypoaldosteronism [Term] id: DOID:9002891 name: Vitelliform Macular Dystrophy 2 alt_id: MIM:153700 synonym: "Best's disease" EXACT [] synonym: "Best disease" EXACT [] synonym: "Best macular dystrophy" EXACT [] synonym: "Best vitelliform macular dystrophy" EXACT [] synonym: "Best Vitelliform Macular Dystrophy, Multifocal" EXACT [] synonym: "BMD" EXACT [] synonym: "juvenile-onset vitelliform macular dystrophy" EXACT [] synonym: "Macular Degeneration, Polymorphic Vitelline" EXACT [] synonym: "vitelliform macular dystrophy, early onset" EXACT [] synonym: "vitelliform macular dystrophy type 2" EXACT [] synonym: "VMD2" EXACT [] xref: GARD:182 xref: MESH:C567187 is_a: DOID:0050661 ! vitelliform macular dystrophy [Term] id: DOID:9002892 name: Parasitic Intestinal Diseases alt_id: RDO:0004972 def: "Infections of the INTESTINES with PARASITES, commonly involving PARASITIC WORMS. Infections with roundworms (NEMATODE INFECTIONS) and tapeworms (CESTODE INFECTIONS) are also known as HELMINTHIASIS." [MESH:D007411] synonym: "Parasitic Intestinal Disease" EXACT [] xref: EFO:0009561 xref: MESH:D007411 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9002893 name: Taurodontia, Absent Teeth, Sparse Hair alt_id: MIM:272980 synonym: "congenital absence of teeth with taurodontia and sparse hair" EXACT [] synonym: "Taurodontia, Absent Teeth, And Sparse Hair" EXACT [] xref: MESH:C536945 is_a: DOID:13714 ! anodontia is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9002894 name: radiation-induced brain injury synonym: "brain injury induced by radiation" EXACT [] xref: EFO:0009704 is_a: DOID:9000111 ! Radiation Injuries is_a: DOID:9000998 ! Brain Injuries created_by: slaulede creation_date: 2022-12-29T15:58:40Z [Term] id: DOID:9002895 name: Tay-Sachs Disease, Pseudo-AB Variant xref: MESH:C564786 xref: RDO:0013632 is_a: DOID:3320 ! Tay-Sachs disease [Term] id: DOID:9002896 name: Follicular Hamartoma, Alopecia, Cystic Fibrosis alt_id: RDO:0002839 synonym: "Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis" EXACT [] xref: MESH:C537071 is_a: DOID:1485 ! cystic fibrosis is_a: DOID:9007253 ! Hamartoma is_a: DOID:987 ! alopecia [Term] id: DOID:9002897 name: Erythremia, Beta-Globin Type xref: MESH:C564193 is_a: DOID:8997 ! polycythemia vera [Term] id: DOID:9002898 name: Cerebral Ventricle Neoplasms def: "Neoplasms located in the brain ventricles, including the two lateral, the third, and the fourth ventricle. Ventricular tumors may be primary (e.g., CHOROID PLEXUS NEOPLASMS and GLIOMA, SUBEPENDYMAL), metastasize from distant organs, or occur as extensions of locally invasive tumors from adjacent brain structures." [MESH:D002551] synonym: "Brain Ventricular Neoplasm" EXACT [] synonym: "Brain Ventricular Neoplasms" EXACT [] synonym: "Brain Ventricular Tumor" EXACT [] synonym: "Brain Ventricular Tumors" EXACT [] synonym: "Cerebral Ventricle Neoplasm" EXACT [] synonym: "Cerebral Ventricle Tumor" EXACT [] synonym: "Cerebral Ventricle Tumors" EXACT [] synonym: "Cerebroventricular Neoplasm" EXACT [] synonym: "Cerebroventricular Neoplasms" EXACT [] synonym: "Intraventricular Neoplasm" EXACT [] synonym: "Intraventricular Neoplasms" EXACT [] xref: MESH:D002551 is_a: DOID:9007502 ! Brain Neoplasms [Term] id: DOID:9002899 name: Mesothelial Neoplasms alt_id: RDO:0006122 def: "Neoplasms composed of tissue of the mesothelium, the layer of flat cells, derived from the mesoderm, which lines the body cavity of the embryo. In the adult it forms the simple squamous epithelium which covers all true serous membranes (peritoneum, pericardium, pleura). The concept does not refer to neoplasms located in these organs. (From Dorland, 27th ed)" [MESH:D018301] synonym: "Mesothelial Neoplasm" EXACT [] xref: EFO:1001044 xref: MESH:D018301 is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:9002900 name: Autosomal Dominant Tubulointerstitial Kidney Disease 2 alt_id: MIM:174000 synonym: "ADMCKD1" EXACT [] synonym: "ADTKD2" EXACT [] synonym: "AUTOSOMAL DOMINANT MEDULLARY CYSTIC KIDNEY DISEASE WITH OR WITHOUT HYPERURICEMIA" EXACT [] synonym: "MCKD" EXACT [] synonym: "MCKD1" EXACT [] synonym: "Medullary cystic kidney disease 1" EXACT [] synonym: "Medullary cystic kidney disease, autosomal dominant" EXACT [] synonym: "MUC1-RELATED CONDITION" EXACT [] synonym: "Polycystic kidneys, medullary type" EXACT [] synonym: "TUBULOINTERSTITIAL KIDNEY DISEASE, AUTOSOMAL DOMINANT, 2" EXACT [] xref: MESH:C536137 is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy [Term] id: DOID:9002901 name: Ovarian Fibromata alt_id: MIM:166970 synonym: "Hereditary ovarian fibroma tumors" NARROW [] xref: MESH:C562391 is_a: DOID:0050871 ! fibroma is_a: DOID:9002762 ! Ovarian Neoplasms [Term] id: DOID:9002902 name: Sulfatidosis def: "A group of inherited metabolic disorders characterized by the intralysosomal accumulation of sulfur-containing lipids (SULFATIDES), including SULFOGLYCOSPHINGOLIPIDS normally found in the MYELIN SHEATH of the brain. These disorders are caused by defective degradative enzymes leading to substrate accumulation (or storage)." [MESH:D052516] synonym: "Sulfatidoses" EXACT [] xref: MESH:D052516 is_a: DOID:1927 ! sphingolipidosis [Term] id: DOID:9002903 name: Tuftsin Deficiency alt_id: MIM:191150 xref: MESH:C562872 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9002904 name: Primitive Neuroectodermal Tumors def: "A group of malignant tumors of the nervous system that feature primitive cells with elements of neuronal and/or glial differentiation. Use of this term is limited by some authors to central nervous system tumors and others include neoplasms of similar origin which arise extracranially (i.e., NEUROECTODERMAL TUMORS, PRIMITIVE, PERIPHERAL). This term is also occasionally used as a synonym for MEDULLOBLASTOMA. In general, these tumors arise in the first decade of life and tend to be highly malignant. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2059)" [MESH:D018242] synonym: "PNET" EXACT [] synonym: "PNETs" EXACT [] synonym: "Primitive Neuroectodermal Tumor" EXACT [] synonym: "Primitive Neuroepithelial Neoplasm" EXACT [] synonym: "Primitive Neuroepithelial Neoplasms" EXACT [] synonym: "Primitive Neuroepithelial Tumor" EXACT [] synonym: "primitive neuroepithelial tumors" EXACT [] synonym: "spongioblastoma" EXACT [] synonym: "spongioblastomas" EXACT [] xref: MESH:D018242 is_a: DOID:7305 ! astroblastoma [Term] id: DOID:9002905 name: EDICT Syndrome synonym: "EDICT" EXACT [] synonym: "ENDOTHELIAL DYSTROPHY, IRIS HYPOPLASIA, CONGENITAL CATARACT, AND STROMAL THINNING SYNDROME" EXACT [] synonym: "familial keratoconus with early-onset anterior polar cataract" EXACT [] synonym: "KERATOCONUS WITH CATARACT" EXACT [] synonym: "KTCNCT" EXACT [] xref: MIM:614303 is_a: DOID:10126 ! keratoconus is_a: DOID:225 ! syndrome is_a: DOID:240 ! iris disease is_a: DOID:2566 ! corneal dystrophy is_a: DOID:83 ! cataract [Term] id: DOID:9002906 name: Multiple Organ Failure def: "A progressive condition usually characterized by combined failure of several organs such as the lungs, liver, kidney, along with some clotting mechanisms, usually postinjury or postoperative." [MESH:D009102] synonym: "INFANT ONSET MULTIPLE ORGAN FAILURE" NARROW [] synonym: "MODS" EXACT [] synonym: "MOFS" EXACT [] synonym: "Multiple Organ Dysfunction Syndrome" EXACT [] synonym: "Multiple Organ Failures" EXACT [] synonym: "multiple organ failure syndrome" EXACT [] xref: EFO:1001373 xref: MESH:D009102 xref: RDO:0006148 is_a: DOID:9002549 ! Shock [Term] id: DOID:9002907 name: Sinus Arrhythmia alt_id: RDO:0004907 def: "Irregular HEART RATE caused by abnormal function of the SINOATRIAL NODE. It is characterized by a greater than 10% change between the maximum and the minimum sinus cycle length or 120 milliseconds." [MESH:D001146] synonym: "Sinoatrial Arrhythmia" EXACT [] synonym: "Sinoatrial Arrhythmias" EXACT [] synonym: "Sinus Arrhythmias" EXACT [] xref: MESH:D001146 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9002908 name: Acute Eosinophilic Leukemia alt_id: RDO:0006886 def: "A rare acute myeloid leukemia characterized by abnormal EOSINOPHILS in the bone marrow." [MESH:D015472] synonym: "Acute Eosinophilic Leukemias" EXACT [] xref: MESH:D015472 is_a: DOID:9005977 ! eosinophilic leukemia is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:9002909 name: Oxygen-Induced Retinopathy def: "A noninflammatory disorder of the retina, involving neuronal damage induced by hypoxic conditions, that is a widely used animal model of retinopathy of prematurity (ROP)." [] synonym: "OIP" EXACT [] synonym: "OIR" EXACT [PMID:20010791] xref: RDO:9000037 is_a: DOID:13025 ! retinopathy of prematurity [Term] id: DOID:9002910 name: Hearing Loss, Noise-Induced alt_id: MIM:613035 def: "Hearing loss due to exposure to explosive loud noise or chronic exposure to sound level greater than 85 dB. The hearing loss is often in the frequency range 4000-6000 hertz." [MESH:D006317] synonym: "Acoustic Trauma" EXACT [] synonym: "Noise-induced hearing loss, association with" RELATED [] synonym: "Noise-induced hearing loss, susceptibility to" RELATED [] xref: EFO:1001254 xref: EFO:1001338 xref: MESH:D006317 is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:9002911 name: Ruvalcaba Syndrome alt_id: MIM:180870 xref: MESH:C579395 is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006161 ! Osteochondritis is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9002912 name: Fanconi Anemia Complementation Group M synonym: "FANCM" EXACT [] is_a: DOID:13636 ! Fanconi anemia [Term] id: DOID:9002913 name: Parturient Paresis def: "A disease of pregnant and lactating cows and ewes leading to generalized paresis and death. The disease, which is characterized by hypocalcemia, occurs at or shortly after parturition in cows and within weeks before or after parturition in ewes." [MESH:D010319] synonym: "Animal Milk Fever" EXACT [] synonym: "Parturient Pareses" EXACT [] xref: MESH:D010319 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9002914 name: Familial Sudden Death synonym: "SUDDEN UNEXPLAINED DEATH IN CHILDHOOD" NARROW [] xref: MESH:C566172 xref: RDO:0014610 is_a: DOID:9007820 ! Sudden Death [Term] id: DOID:9002915 name: Ichthyosis with Erythrokeratoderma def: "An autosomal dominant disorder of cornification characterized by abnormal desquamation in addition to erythematous hyperkeratotic plaques or patches. Caused by heterozygous mutation in the KLK11 gene on chromosome 19q13." [MIM:620507] synonym: "IEKD" EXACT [] xref: MIM:620507 is_a: DOID:1697 ! ichthyosis created_by: mtutaj creation_date: 2023-09-22T10:01:15Z [Term] id: DOID:9002916 name: Hyperphagia def: "Ingestion of a greater than optimal quantity of food." [MESH:D006963] synonym: "Overeating" EXACT [] synonym: "Polyphagia" EXACT [] synonym: "Polyphagias" EXACT [] xref: MESH:D006963 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9002917 name: Familial Progressive Supranuclear Palsy alt_id: RDO:0004507 xref: MESH:C538572 is_a: DOID:678 ! progressive supranuclear palsy [Term] id: DOID:9002919 name: Sudden Unexpected Nocturnal Death Syndrome xref: MESH:C531638 is_a: DOID:0050451 ! Brugada syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9002920 name: Bullous Dystrophy, Hereditary Macular Type alt_id: MIM:302000 synonym: "EBM" EXACT [] synonym: "Epidermolysis Bullosa, Macular Type" EXACT [] xref: MESH:C563065 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:2730 ! epidermolysis bullosa is_a: DOID:9007661 ! Dwarfism is_a: DOID:987 ! alopecia [Term] id: DOID:9002921 name: Holoprosencephaly, Recurrent Infections, and Monocytosis alt_id: MIM:610680 xref: MESH:C538328 is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9001039 ! Leukocytosis [Term] id: DOID:9002922 name: Pseudoarylsulfatase A Deficiency xref: MESH:C565403 is_a: DOID:10581 ! metachromatic leukodystrophy [Term] id: DOID:9002923 name: Generalized Lipodystrophy with Mental Retardation, Deafness, Short Stature, and Slender Bones alt_id: MIM:608154 xref: MESH:C564283 is_a: DOID:0050585 ! congenital generalized lipodystrophy is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002924 name: Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated with Cerebral Capillary Malformations xref: MESH:C566153 is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9003443 ! Central Nervous System Vascular Malformations [Term] id: DOID:9002925 name: Narcolepsy 1 alt_id: MIM:161400 synonym: "Narcoleptic Syndrome 1" EXACT [] synonym: "NARCOLEPTIC SYNDROME 1 CATAPLEXY" NARROW [] synonym: "NRCLP1" EXACT [] synonym: "Type 1 narcolepsy" EXACT [] xref: MESH:C563534 is_a: DOID:8986 ! narcolepsy [Term] id: DOID:9002926 name: Galloway-Mowat Syndrome 10 def: "A severe autosomal recessive disorder characterized by onset of symptoms soon after birth (progressive renal dysfunction with proteinuria associated with diffuse mesangial sclerosis). Caused by homozygous or compound heterozygous mutation in the YRDC gene on chromosome 1p34." [MIM:619609] synonym: "GAMOS10" EXACT [] xref: MIM:619609 is_a: DOID:0080694 ! Galloway-Mowat syndrome created_by: mtutaj creation_date: 2021-11-15T12:12:58Z [Term] id: DOID:9002927 name: Neck Injuries def: "General or unspecified injuries to the neck. It includes injuries to the skin, muscles, and other soft tissues of the neck." [MESH:D019838] synonym: "Neck Injury" EXACT [] xref: EFO:0009476 xref: MESH:D019838 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9002928 name: Colonic Neoplasms def: "Tumors of the COLON." [MESH:D003110] synonym: "colonic neoplasm" EXACT [] synonym: "colonic tumor" EXACT [] synonym: "colon neoplasm" EXACT [] synonym: "colon neoplasms" EXACT [] synonym: "neoplasm of colon" EXACT [] xref: EFO:0004288 xref: EFO:1000187 xref: MESH:D003110 is_a: DOID:9008443 ! Colorectal Neoplasms [Term] id: DOID:9002929 name: Obturator Hernia def: "A pelvic hernia through the obturator foramen, a large aperture in the hip bone normally covered by a membrane. Obturator hernia can lead to intestinal incarceration and INTESTINAL OBSTRUCTION." [MESH:D006553] synonym: "Obturator Hernias" EXACT [] xref: MESH:D006553 is_a: DOID:1283 ! enterocele [Term] id: DOID:9002930 name: Retinoblastoma-Related Osteosarcoma alt_id: RDO:0014989 xref: MESH:C566714 is_a: DOID:3347 ! osteosarcoma is_a: DOID:768 ! retinoblastoma [Term] id: DOID:9002931 name: Chondrocalcinosis due to Apatite Crystal Deposition alt_id: MIM:118610 synonym: "Familial Apatite disease" EXACT [] xref: MESH:C535939 is_a: DOID:1156 ! chondrocalcinosis [Term] id: DOID:9002932 name: Hairy Elbows alt_id: MIM:139600 synonym: "Hypertrichosis cubiti" EXACT [] synonym: "Hypertrichosis cubiti short stature" EXACT [] synonym: "MacDermot Patton Williams syndrome" EXACT [] xref: MESH:C535618 is_a: DOID:420 ! hypertrichosis is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9002933 name: Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia def: "NEDIDHA is caused by homozygous or compound heterozygous mutation in the DOCK3 gene (603123) on chromosome 3p21. (OMIM)" [] synonym: "NEDIDHA" EXACT [] xref: MIM:618292 is_a: DOID:1059 ! intellectual disability is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9004866 ! Ataxia is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2019-02-26T08:49:31Z [Term] id: DOID:9002934 name: Chromosome 7, Monosomy 7q2 synonym: "Deletion 7q2" EXACT [] synonym: "Monosomy 7q2" EXACT [] xref: MESH:C537815 xref: RDO:0003719 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9002935 name: Chitayat Moore Del Bigio Syndrome xref: MESH:C535927 is_a: DOID:225 ! syndrome is_a: DOID:2785 ! Dandy-Walker syndrome is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9002936 name: Bile Duct Neoplasms def: "Tumors or cancer of the BILE DUCTS." [MESH:D001650] synonym: "bile duct neoplasm" EXACT [] xref: MESH:D001650 is_a: DOID:0050625 ! biliary tract benign neoplasm is_a: DOID:4138 ! bile duct disease [Term] id: DOID:9002937 name: Child Nutrition Disorders def: "Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in children ages 2 to 12 years." [MESH:D015362] synonym: "Child Malnutrition" EXACT [] synonym: "Child Nutrition Disorder" EXACT [] synonym: "Child Overnutrition" EXACT [] synonym: "Malnutrition in Children" EXACT [] xref: MESH:D015362 is_a: DOID:374 ! nutrition disease [Term] id: DOID:9002938 name: Harding Ataxia alt_id: MIM:212895 synonym: "Ataxia, harding type" EXACT [] synonym: "Cerebellar ataxia early onset with retained tendon reflex" EXACT [] synonym: "Cerebellar Ataxia, Early-Onset, with Retained Tendon Reflexes" EXACT [] xref: MESH:C535633 is_a: DOID:0050753 ! cerebellar ataxia [Term] id: DOID:9002939 name: Wright Dyck Syndrome synonym: "Hearing loss ankle anomalies and neurological regression-dementia" EXACT [] synonym: "Sensory neuropathy with deafness and dementia" EXACT [] xref: MESH:C536749 xref: RDO:0002426 is_a: DOID:1307 ! dementia is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9002941 name: Hypotrichosis, Progressive Patterned Scalp, with Wiry Hair, Onycholysis, and Cleft Lip/Palate alt_id: MIM:609250 synonym: "Marie Unna-Like Scalp Hypotrichosis" EXACT [] xref: MESH:C563765 is_a: DOID:4535 ! hypotrichosis is_a: DOID:674 ! cleft palate is_a: DOID:9000584 ! Onycholysis is_a: DOID:9296 ! cleft lip [Term] id: DOID:9002942 name: Abdominal Chemodectomas with Cutaneous Angiolipomas alt_id: MIM:118350 synonym: "Familial abdominal chemodectomas with cutaneous angiolipomas" EXACT [] synonym: "Intraabdominal chemodectoma with cutaneous angiolipomas" EXACT [] xref: MESH:C535552 is_a: DOID:0050773 ! paraganglioma is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9002944 name: Hyperzincemia and Hypercalprotectinemia xref: MESH:C565988 xref: RDO:0014479 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:9002945 name: Tremor of Intention, Ataxia, and Lipofuscinosis alt_id: MIM:190200 xref: MESH:C566038 is_a: DOID:9000495 ! Tremor is_a: DOID:9004866 ! Ataxia is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:9002946 name: Familial Lissencephaly with Cleft Palate and Cerebellar Hypoplasia alt_id: MIM:604382 xref: MESH:C565781 is_a: DOID:0050453 ! lissencephaly is_a: DOID:674 ! cleft palate [Term] id: DOID:9002947 name: Aicardi-Goutieres Syndrome 9 def: "A type I interferonopathy characterized by severe developmental delay and progressive neurologic deterioration. Caused by compound heterozygous mutation in the RNU7-1 gene on chromosome 12p13. (OMIM)" [] synonym: "AGS9" EXACT [] xref: MIM:619487 is_a: DOID:0050629 ! Aicardi-Goutieres syndrome created_by: mtutaj creation_date: 2021-08-25T10:44:49Z [Term] id: DOID:9002948 name: Storm Syndrome alt_id: MIM:185069 xref: MESH:C566109 is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:4079 ! heart valve disease is_a: DOID:4535 ! hypotrichosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9002949 name: Dyskinesia with Orofacial Involvement, Autosomal Recessive def: "This disease is characterized by the onset of abnormal involuntary movements, mainly affecting the limbs and causing walking difficulties, in the first decade." [MIM:619647] synonym: "Autosomal recessive dyskinesia with orofacial involvement" EXACT [] synonym: "DSKOR" EXACT [] xref: MIM:619647 is_a: DOID:9007924 ! Dyskinesia with Orofacial Involvement created_by: slaulede creation_date: 2022-02-04T14:10:47Z [Term] id: DOID:9002950 name: Camera Marugo Cohen Syndrome alt_id: MIM:604257 xref: MESH:C537964 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005532 ! Muscle Weakness is_a: DOID:9006496 ! Lordosis is_a: DOID:9970 ! obesity [Term] id: DOID:9002951 name: Primary Autosomal Recessive Microcephaly 27 def: "Characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech. Caused by heterozygous mutation in the LMNB2 gene on chromosome 19p13. (OMIM)" [] synonym: "MCPH27" EXACT [] synonym: "MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT" RELATED [] xref: MIM:619180 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: mtutaj creation_date: 2021-02-22T17:34:14Z [Term] id: DOID:9002953 name: Escherichia Coli Infections def: "Infections with bacteria of the species ESCHERICHIA COLI." [MESH:D004927] synonym: "E coli Infection" EXACT [] synonym: "E coli Infections" EXACT [] synonym: "Escherichia coli Infection" EXACT [] xref: EFO:1001318 xref: MESH:D004927 xref: RDO:0005534 is_a: DOID:9003491 ! Enterobacteriaceae Infections [Term] id: DOID:9002954 name: Microcephalic Osteodysplastic Primordial Dwarfism synonym: "MOPD" EXACT [] is_a: DOID:10907 ! microcephaly is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9002955 name: Nerve Degeneration def: "Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways." [MESH:D009410] synonym: "Nerve Degenerations" EXACT [] synonym: "Neuron Degeneration" EXACT [] synonym: "Neuron Degenerations" EXACT [] synonym: "striatal degeneration" RELATED [] xref: MESH:D009410 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9002956 name: X-Linked Intellectual Developmental Disorder 95 alt_id: MIM:300716 synonym: "MRX95" EXACT [] synonym: "XLID95" EXACT [] synonym: "X-linked mental retardation 95" EXACT [] xref: MESH:C567470 is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9002957 name: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO def: "Carbonic anhydrase VA deficiency (CA5AD) is an autosomal recessive inborn error of metabolism characterized clinically by acute onset of encephalopathy in infancy or early childhood. Biochemical evaluation shows multiple metabolic abnormalities, including metabolic acidosis and respiratory alkalosis. Other abnormalities include hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Apart from episodic acute events in early childhood, the disorder shows a relatively benign course. Treatment with carglumic acid can result in neurologic improvement. CA5AD is caused by homozygous mutation in the CA5A gene on chromosome 16q24. (OMIM)" [] synonym: "CA5AD" EXACT [] xref: MIM:615751 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9008972 ! Hyperammonemia [Term] id: DOID:9002958 name: Solitary Fibrous Tumors def: "Rare neoplasms of mesenchymal origin, usually benign, and most commonly involving the PLEURA (see SOLITARY FIBROUS TUMOR, PLEURAL). They also are found in extrapleural sites." [MESH:D054364] synonym: "Dedifferentiated Solitary Fibrous Tumor" NARROW [] synonym: "Solitary Fibrous Tumor" EXACT [] xref: EFO:1000214 xref: MESH:D054364 xref: RDO:0007671 is_a: DOID:0050871 ! fibroma [Term] id: DOID:9002959 name: Deficient N-Hydroxylation of Amobarbital alt_id: MIM:204800 xref: MESH:C565959 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9002960 name: Impacted Tooth alt_id: MIM:308280 def: "A tooth that is prevented from erupting by a physical barrier, usually other teeth. Impaction may also result from orientation of the tooth in an other than vertical position in the periodontal structures." [MESH:D014095] synonym: "Impacted Teeth" EXACT [] xref: MESH:D014095 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9002961 name: Upington Disease alt_id: MIM:191520 synonym: "Familial dyschondroplasia" EXACT [] synonym: "Perthes-like hip disease, enchondromata, and ecchondromata" EXACT [] xref: MESH:C536472 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9002962 name: Adams-Oliver Syndrome 2 synonym: "AOS2" EXACT [] synonym: "DOCK6-RELATED CONDITION" EXACT [] xref: MIM:614219 is_a: DOID:0060227 ! Adams-Oliver syndrome [Term] id: DOID:9002963 name: Autosomal Recessive Intellectual Developmental Disorder 78 def: "A neurodevelopmental disorder characterized by impaired intellectual development that is usually mild, but shows variable severity. Caused by homozygous or compound heterozygous mutation in the WDR11 gene on chromosome 10q26." [MIM:620237] synonym: "MRT78" EXACT [] xref: MIM:620237 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2023-02-10T09:08:58Z [Term] id: DOID:9002964 name: Chronic Idiopathic Polyhydramnios alt_id: MIM:263610 synonym: "lactogen receptor defect of chorion" EXACT [] xref: MESH:C564876 is_a: DOID:8488 ! polyhydramnios [Term] id: DOID:9002965 name: Cerebrospinal Fluid Leak def: "Discharge of cerebrospinal fluid through a hole through the skull bone most commonly draining from the nose (CEREBROSPINAL FLUID RHINORRHEA) or the ear (CEREBROSPINAL FLUID OTORRHEA)." [MESH:D065634] synonym: "Cerebrospinal Fluid Drainage" EXACT [] synonym: "Cerebrospinal Fluid Drainage, Post Traumatic" EXACT [] synonym: "Cerebrospinal Fluid Drainages" EXACT [] synonym: "Cerebrospinal Fluid Drainage, Spontaneous" EXACT [] synonym: "Cerebrospinal Fluid Drainage, Traumatic" EXACT [] synonym: "Cerebrospinal Fluid Leakage" EXACT [] synonym: "Cerebrospinal Fluid Leakage, Post Traumatic" EXACT [] synonym: "Cerebrospinal Fluid Leakages" EXACT [] synonym: "Cerebrospinal Fluid Leakage, Spontaneous" EXACT [] synonym: "Cerebrospinal Fluid Leakage, Traumatic" EXACT [] synonym: "Cerebrospinal Fluid Leak, Post Traumatic" EXACT [] synonym: "Cerebrospinal Fluid Leaks" EXACT [] synonym: "Cerebrospinal Fluid Leak, Spontaneous" EXACT [] synonym: "Cerebrospinal Fluid Leak, Traumatic" EXACT [] synonym: "Spinal Cerebrospinal Fluid Leak" EXACT [] synonym: "Spinal Cerebrospinal Fluid Leak, Post Traumatic" EXACT [] synonym: "Spinal Cerebrospinal Fluid Leak, Spontaneous" EXACT [] synonym: "Spinal Cerebrospinal Fluid Leak, Traumatic" EXACT [] xref: MESH:D065634 xref: RDO:0015954 is_a: DOID:9003814 ! Neurologic Manifestations is_a: DOID:9007621 ! Craniocerebral Trauma [Term] id: DOID:9002966 name: Traumatic Amputation def: "Loss of a limb or other bodily appendage by accidental injury." [MESH:D000673] synonym: "Traumatic Amputations" EXACT [] xref: MESH:D000673 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9002967 name: Chondrodysplasia Punctata with Coagulation Factor Deficiency xref: MESH:C564742 xref: RDO:0013603 is_a: DOID:2581 ! chondrodysplasia punctata is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:9002968 name: Muscular Dystrophy, Barnes Type alt_id: MIM:158800 alt_id: RDO:0012783 xref: MESH:C563558 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9002969 name: Nevus def: "A circumscribed stable malformation of the skin and occasionally of the oral mucosa, which is not due to external causes and therefore presumed to be of hereditary origin." [MESH:D009506] synonym: "atypical mole" NARROW [] synonym: "dysplastic nevus" NARROW [] synonym: "Nevi" EXACT [] synonym: "Skin Mole" EXACT [] synonym: "Skin Moles" EXACT [] xref: EFO:0000625 xref: EFO:0004200 xref: MESH:D009506 xref: RDO:0005418 is_a: DOID:9005825 ! Nevi and Melanomas [Term] id: DOID:9002970 name: Tetralogy of Fallot and Glaucoma alt_id: MIM:187501 synonym: "familial tetralogy of Fallot and glaucoma" EXACT [] xref: MESH:C536501 is_a: DOID:1686 ! glaucoma is_a: DOID:6419 ! tetralogy of Fallot [Term] id: DOID:9002971 name: Myxomatous Mitral Valve Prolapse 2 alt_id: MIM:607829 synonym: "DCHS1-RELATED CONDITION" BROAD [] synonym: "DCHS1-RELATED DISORDER" BROAD [] synonym: "MITRAL VALVE PROLAPSE 2" EXACT [] synonym: "MITRAL VALVE PROLAPSE, MYXOMATOUS 2" EXACT [] synonym: "MMVP2" EXACT [] synonym: "MVP2" EXACT [] xref: MESH:C564326 is_a: DOID:988 ! mitral valve prolapse [Term] id: DOID:9002972 name: Trichilemmal Cyst alt_id: MIM:609649 synonym: "pilar cyst" EXACT [] synonym: "pilar cysts" EXACT [] synonym: "tricholemmal cyst 1" EXACT [] synonym: "TRICY1" EXACT [] xref: MESH:C566458 is_a: DOID:9005841 ! Epidermal Cyst [Term] id: DOID:9002973 name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 10 synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10" EXACT [] synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 7" EXACT [] synonym: "IIAE10" EXACT [] xref: MIM:619396 is_a: DOID:936 ! brain disease created_by: mtutaj creation_date: 2022-11-14T12:15:52Z [Term] id: DOID:9002974 name: Weismann Netter Syndrome alt_id: MIM:112350 synonym: "Anterior bowing of legs with dwarfism" EXACT [] synonym: "Toxopachyosteose diaphysaire tibio-peroniere" EXACT [] synonym: "Toxopachyosteosis" EXACT [] synonym: "Toxopachyoteose diaphysaire tibio peroniere" EXACT [] synonym: "Weismann Netter Stuhl syndrome" EXACT [] xref: MESH:C537082 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9004552 ! Genu Varum [Term] id: DOID:9002975 name: Familial Cardiac Lipidosis alt_id: MIM:212080 xref: MESH:C565884 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:9002976 name: Duplication of Eyebrows with Stretchable Skin and Syndactyly alt_id: MIM:227210 xref: MESH:C536383 is_a: DOID:11193 ! syndactyly is_a: DOID:37 ! skin disease [Term] id: DOID:9002977 name: Ergotism def: "Poisoning caused by ingesting ergotized grain or by the misdirected or excessive use of ergot as a medicine." [MESH:D004881] synonym: "Ergotisms" EXACT [] synonym: "Ergot Poisoning" EXACT [] synonym: "Ergot Poisonings" EXACT [] synonym: "Saint Anthony's Fire" EXACT [] synonym: "Saint Anthony Fire" EXACT [] synonym: "Saint Anthonys Fire" EXACT [] synonym: "St. Anthony's Fire" EXACT [] synonym: "St. Anthony Fire" EXACT [] synonym: "St. Anthonys Fire" EXACT [] xref: MESH:D004881 is_a: DOID:9002606 ! Mycotoxicosis [Term] id: DOID:9002978 name: Varicella Zoster Encephalitis alt_id: RDO:0007433 def: "Inflammation of brain tissue caused by infection with the varicella-zoster virus (HERPESVIRUS 3, HUMAN). This condition is associated with immunocompromised states, including the ACQUIRED IMMUNODEFICIENCY SYNDROME. Pathologically, the virus tends to induce a vasculopathy and infect oligodendrocytes and ependymal cells, leading to CEREBRAL INFARCTION, multifocal regions of demyelination, and periventricular necrosis. Manifestations of varicella encephalitis usually occur 5-7 days after onset of HERPES ZOSTER and include HEADACHE; VOMITING; lethargy; focal neurologic deficits; FEVER; and COMA. (From Joynt, Clinical Neurology, 1996, Ch 26, pp29-32; Hum Pathol 1996 Sep;27(9):927-38)" [MESH:D020804] synonym: "Encephalitis, Human Herpesvirus 3" EXACT [] synonym: "Encephalitis, VZ Virus" EXACT [] synonym: "Herpes Zoster Encephalitis" EXACT [] synonym: "Herpes Zoster Meningoencephalitis" EXACT [] synonym: "Varicella Encephalitides" EXACT [] synonym: "Varicella Encephalitis" EXACT [] xref: EFO:1001310 xref: MESH:D020804 is_a: DOID:646 ! viral encephalitis is_a: DOID:9004668 ! Varicella Zoster infection [Term] id: DOID:9002979 name: Anal Atresia, Hypospadias, and Penoscrotal Inversion alt_id: MIM:602553 xref: MESH:C566526 is_a: DOID:10488 ! imperforate anus is_a: DOID:10892 ! hypospadias [Term] id: DOID:9002980 name: Velofacioskeletal Syndrome alt_id: MIM:600736 xref: MESH:C536536 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002981 name: Genomic Instability def: "An increased tendency of the GENOME to acquire MUTATIONS when various processes involved in maintaining and replicating the genome are dysfunctional." [MESH:D042822] synonym: "Genome Instabilities" EXACT [] synonym: "Genome Instability" EXACT [] synonym: "Genome Stabilities" EXACT [] synonym: "Genome Stability" EXACT [] synonym: "Genomic Instabilities" EXACT [] synonym: "Genomic Stabilities" EXACT [] synonym: "Genomic Stability" EXACT [] xref: MESH:D042822 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9002983 name: Distal Arthrogryposis, Type 2E alt_id: MIM:121070 synonym: "Contractures of fingers and jaw" EXACT [] xref: MESH:C535384 is_a: DOID:9006523 ! Distal Arthrogryposis Type 2 [Term] id: DOID:9002984 name: Malabsorption Syndromes def: "General term for a group of MALNUTRITION syndromes caused by failure of normal INTESTINAL ABSORPTION of nutrients." [MESH:D008286] synonym: "Malabsorption Syndrome" EXACT [] xref: EFO:0009554 xref: MESH:D008286 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:225 ! syndrome is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9002986 name: Hapnes Boman Skeie Syndrome xref: MESH:C536960 is_a: DOID:225 ! syndrome is_a: DOID:3153 ! lipomatosis is_a: DOID:9004079 ! Angiomatosis is_a: DOID:9007429 ! Soft Tissue Neoplasms [Term] id: DOID:9002987 name: Togaviridae Infections def: "Virus diseases caused by the TOGAVIRIDAE." [MESH:D014036] synonym: "Togaviridae Disease" EXACT [] synonym: "Togaviridae Diseases" EXACT [] synonym: "Togaviridae Infection" EXACT [] synonym: "Togaviridae infectious disease" EXACT [] synonym: "Togavirus Infection" EXACT [] synonym: "Togavirus Infections" EXACT [] xref: EFO:0007513 xref: MESH:D014036 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9002988 name: Orbital Myositis def: "Inflammation of the extraocular muscle of the eye. It is characterized by swelling which can lead to ischemia, fibrosis, or ORBITAL PSEUDOTUMOR." [MESH:D055622] synonym: "orbital myositides" EXACT [] xref: EFO:1001819 xref: MESH:D055622 is_a: DOID:633 ! myositis is_a: DOID:930 ! orbital disease [Term] id: DOID:9002989 name: Vasoplegia def: "Condition of low SYSTEMIC VASCULAR RESISTANCE that develops secondary to other conditions such as ANAPHYLAXIS; SEPSIS; SURGICAL SHOCK; and SEPTIC SHOCK. Vasoplegia that develops during or post surgery (e.g., CARDIOPULMONARY BYPASS) is called postoperative vasoplegic syndrome or vasoplegic syndrome." [MESH:D056987] synonym: "Post operative Vasoplegic Syndrome" EXACT [] synonym: "Postoperative Vasoplegic Syndrome" EXACT [] synonym: "Post-operative Vasoplegic Syndromes" EXACT [] synonym: "Vasoplegias" EXACT [] synonym: "Vasoplegic Syndrome" EXACT [] xref: MESH:D056987 is_a: DOID:178 ! vascular disease is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9002990 name: Familial Atrial Fibrillation 17 comment: is part of OMIM:611819, LQT10 synonym: "ATFB17" EXACT [] is_a: DOID:0050650 ! familial atrial fibrillation is_a: DOID:0110651 ! long QT syndrome 10 created_by: mtutaj creation_date: 2019-03-15T13:03:31Z [Term] id: DOID:9002991 name: Keutel Syndrome alt_id: MIM:245150 synonym: "KTLS" EXACT [] synonym: "Pulmonic stenosis, brachytelephalangism, and calcification of cartilages" EXACT [] xref: MESH:C536167 is_a: DOID:1222 ! cartilage disease is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:6420 ! pulmonary valve stenosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9002992 name: Nematode Infections def: "Infections by nematodes, general or unspecified." [MESH:D009349] synonym: "Nematoda infectious disease" EXACT [] synonym: "Nematode Infection" EXACT [] xref: EFO:0007391 xref: MESH:D009349 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:9002993 name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH def: "This disease is an autosomal recessive disorder with a highly variable phenotype. Most patients develop significant gingival hypertrophy associated with a prominent mandible or cherubism in the first years of life. The disorder appears to comprise a continuum of evolving neurologic manifestations." [MIM:619323] synonym: "NEDSGO" EXACT [] xref: MIM:619323 is_a: DOID:1826 ! epilepsy is_a: DOID:3086 ! gingival overgrowth is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2021-08-16T15:42:39Z [Term] id: DOID:9002994 name: Pyruvate Metabolism, Inborn Errors def: "Hereditary disorders of pyruvate metabolism. They are difficult to diagnose and describe because pyruvate is a key intermediate in glycolysis, gluconeogenesis, and the tricarboxylic acid cycle. Some inherited metabolic disorders may alter pyruvate metabolism indirectly. Disorders in pyruvate metabolism appear to lead to deficiencies in neurotransmitter synthesis and, consequently, to nervous system disorders." [MESH:D015323] xref: MESH:D015323 xref: RDO:0001760 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9002995 name: Conductive Stapedial Deafness with Ear Malformation and Facial Palsy alt_id: MIM:124490 xref: MESH:C565123 is_a: DOID:1756 ! facial nerve disease is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9002996 name: Familial Atrial Fibrillation 13 synonym: "ATFB13" EXACT [] xref: MIM:615377 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9002997 name: Glossoptosis def: "Posterior displacement of the TONGUE toward the PHARYNX. It is often a feature in syndromes such as in PIERRE ROBIN SYNDROME and DOWN SYNDROME and associated with AIRWAY OBSTRUCTION during sleep (OBSTRUCTIVE SLEEP APNEAS)." [MESH:D065710] synonym: "Glossoptoses" EXACT [] xref: MESH:D065710 is_a: DOID:10944 ! tongue disease [Term] id: DOID:9002998 name: Weill-Marchesani Syndrome 1 def: "This disease is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, eye anomalies, including microspherophakia, ectopia of the lenses, severe myopia, and glaucoma," [MIM:277600] synonym: "ADAMTS10-RELATED CONDITION" EXACT [] synonym: "WMS1" EXACT [] xref: MIM:277600 is_a: DOID:0050475 ! Weill-Marchesani syndrome created_by: mtutaj creation_date: 2019-12-30T10:38:50Z [Term] id: DOID:9002999 name: Microphthalmia/Coloboma 7 synonym: "Isolated Microphthalmia with Coloboma 7" EXACT [] synonym: "MCOPC7" EXACT [] synonym: "MCOPCB7" EXACT [] xref: MIM:614497 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma [Term] id: DOID:9003000 name: Asthenia def: "Clinical sign or symptom manifested as debility, or lack or loss of strength and energy." [MESH:D001247] synonym: "Asthenias" EXACT [] xref: EFO:0007625 xref: MESH:D001247 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9003001 name: indeterminate colitis def: "This pertains to colitis patients in whom a diagnosis of ulcerative colitis or Crohn's disease cannot be made based on standard clinical testing, including colonoscopy, imaging, laboratory tests, and biopsy." [EFO:1000034] synonym: "colitis of indeterminate type" EXACT [] xref: EFO:1000034 is_a: DOID:0060180 ! colitis created_by: slaulede creation_date: 2023-02-02T14:51:29Z [Term] id: DOID:9003002 name: Fetal Resorption def: "The disintegration and assimilation of the dead FETUS in the UTERUS at any stage after the completion of organogenesis which, in humans, is after the 9th week of GESTATION. It does not include embryo resorption (see EMBRYO LOSS)." [MESH:D005327] synonym: "Fetal Resorptions" EXACT [] xref: MESH:D005327 is_a: DOID:9001916 ! Fetal Death [Term] id: DOID:9003003 name: Skin and Connective Tissue Diseases def: "A collective term for diseases of the skin and its appendages and of connective tissue." [] xref: MESH:D017437 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:9003004 name: MICROMELIA def: "This developmental disease results in the presence of abnormally small extremities." [HP:0002983, MP:0008736] synonym: "nanomelia" EXACT [] synonym: "Smaller or shorter than typical limbs" EXACT [] is_a: DOID:0080006 ! bone development disease created_by: slaulede creation_date: 2022-12-12T14:20:25Z [Term] id: DOID:9003005 name: Camptodactyly, Fibrous Tissue Hyperplasia, and Skeletal Dysplasia alt_id: MIM:211930 synonym: "camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia" EXACT [] xref: MESH:C537974 is_a: DOID:0080000 ! muscular disease is_a: DOID:0080006 ! bone development disease is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008267 ! Fibrous Dysplasia of Bone [Term] id: DOID:9003006 name: Ventricular Septal Defect 3 synonym: "VSD3" EXACT [] xref: MIM:614432 xref: MONDO:0013749 is_a: DOID:1657 ! ventricular septal defect [Term] id: DOID:9003007 name: Mitochondrial Complex II Deficiency Nuclear Type 3 synonym: "MC2DN3" EXACT [] xref: MIM:619167 is_a: DOID:0060537 ! mitochondrial complex II deficiency created_by: mtutaj creation_date: 2021-02-01T15:47:39Z [Term] id: DOID:9003008 name: Lymphatic Vessel Tumors def: "Neoplasms composed of lymphoid tissue, a lattice work of reticular tissue the interspaces of which contain lymphocytes. The concept does not refer to neoplasms located in lymphatic vessels." [MESH:D018190] synonym: "Lymphatic Vessel Tumor" EXACT [] synonym: "malignant lymphatic vessel tumor" NARROW [] xref: EFO:1001032 xref: MESH:D018190 is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9003009 name: Congenital Muscular Dystrophy associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation xref: MESH:C565506 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly [Term] id: DOID:9003011 name: CAMFAK Syndrome alt_id: MIM:212540 synonym: "Cataract-microcephaly-failure to thrive-kyphoscoliosis" EXACT [] synonym: "cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome" EXACT [] xref: MESH:C537965 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:3213 ! demyelinating disease is_a: DOID:83 ! cataract is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:9003012 name: Rommen Mueller Sybert Syndrome synonym: "Developmental delay, growth deficiency, congenital heart defect, and multiple craniofacial anomalies" EXACT [] synonym: "Short stature, heart defect and craniofacial anomalies" EXACT [] xref: MESH:C535871 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003013 name: Neurodevelopmental Disorder with Alopecia and Brain Abnormalities synonym: "BABS" EXACT [] synonym: "Bachmann-Bupp syndrome" EXACT [] synonym: "NEDABA" EXACT [] synonym: "Neurodevelopmental disorder with alopecia and brain imaging abnormalities" EXACT [] xref: MIM:619075 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2020-11-02T09:44:15Z [Term] id: DOID:9003014 name: Hyperglycemic Hyperosmolar Nonketotic Coma def: "A serious complication of TYPE 2 DIABETES MELLITUS. It is characterized by extreme HYPERGLYCEMIA; DEHYDRATION; serum hyperosmolarity; and depressed consciousness leading to COMA in the absence of KETOSIS and ACIDOSIS." [MESH:D006944] synonym: "Hyperosmolar Hyperglycemic State" EXACT [] synonym: "Hyperosmolar Hyperglycemic States" EXACT [] synonym: "Hyperosmolar Hyperglycemic Syndrome" EXACT [] synonym: "Hyperosmolar Hyperglycemic Syndromes" EXACT [] synonym: "Hyperosmolar Nonketotic Coma" EXACT [] synonym: "Hyperosmolar Nonketotic Comas" EXACT [] synonym: "Nonketotic Hyperglycemic Coma" EXACT [] xref: MESH:D006944 is_a: DOID:9003496 ! Diabetic Coma [Term] id: DOID:9003016 name: Aminoacylase 1 Deficiency alt_id: MIM:609924 synonym: "ACY1D" EXACT [] synonym: "Deficiency of the aminoacylase-1 enzyme" EXACT [] xref: EFO:1001981 xref: MESH:C538246 xref: RDO:0004197 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9003017 name: Say-Barber-Miller Syndrome synonym: "microcephaly-hypogammaglobulinemia-abnormal immunity" EXACT [] synonym: "microcephaly with chemotactic defect and transient hypogammaglobulinemia" EXACT [] xref: GARD:239 xref: MESH:C536618 xref: MIM:251240 xref: MONDO:0009620 xref: ORDO:3132 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:9003018 name: Halothane Hepatitis alt_id: MIM:234350 xref: MESH:C562477 is_a: DOID:9007383 ! Chemical and Drug Induced Liver Injury [Term] id: DOID:9003019 name: Mercaptolactate-Cysteine Disulfiduria alt_id: MIM:249650 synonym: "mixed disulfiduria" EXACT [] xref: MESH:C563085 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9003020 name: Chemotherapy-Induced Febrile Neutropenia def: "FEVER accompanied by a significant reduction in NEUTROPHIL count associated with CHEMOTHERAPY." [MESH:D064146] synonym: "Chemotherapy-Induced Febrile Neutropenias" EXACT [] synonym: "Drug Induced Febrile Neutropenia" EXACT [] synonym: "Drug-Induced Febrile Neutropenias" EXACT [] xref: MESH:D064146 is_a: DOID:9004486 ! Drug-induced Neutropenia is_a: DOID:9008313 ! Febrile Neutropenia [Term] id: DOID:9003021 name: Microcephaly, Cataracts, Impaired Intellectual Development, and Dystonia with Abnormal Striatum synonym: "MCIDDS" EXACT [] xref: MIM:618284 is_a: DOID:10907 ! microcephaly is_a: DOID:543 ! dystonia is_a: DOID:83 ! cataract is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2019-02-26T08:34:04Z [Term] id: DOID:9003022 name: Short Stature-Obesity Syndrome alt_id: MIM:269870 synonym: "SSOS" EXACT [] xref: MESH:C564821 is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9970 ! obesity [Term] id: DOID:9003023 name: Heart Rupture, Post-Infarction def: "Laceration or tearing of cardiac tissues appearing after MYOCARDIAL INFARCTION." [MESH:D006342] synonym: "Post-Infarction Cardiac Rupture" EXACT [] synonym: "Post-Infarction Cardiac Ruptures" EXACT [] synonym: "Post-Infarction Heart Ruptures" EXACT [] xref: MESH:D006342 xref: RDO:0005729 is_a: DOID:9004541 ! Heart Rupture [Term] id: DOID:9003024 name: Shapiro Syndrome synonym: "Shapiro's syndrome" EXACT [] xref: MESH:C537594 is_a: DOID:225 ! syndrome is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9002395 ! Hypothermia is_a: DOID:9004062 ! Hyperhidrosis [Term] id: DOID:9003025 name: Cerebroretinal Microangiopathy with Calcifications and Cysts synonym: "Coats Plus Syndrome" EXACT [] synonym: "CRMCC" EXACT [] xref: MESH:C567401 xref: MIM:PS612199 is_a: DOID:11832 ! visual epilepsy is_a: DOID:182 ! calcinosis is_a: DOID:7765 ! Coats disease is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9003857 ! Central Nervous System Cysts is_a: DOID:9004866 ! Ataxia is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9007502 ! Brain Neoplasms [Term] id: DOID:9003026 name: Congenital Alopecia X-Linked synonym: "Alopecia congenital" EXACT [] xref: MESH:C535981 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:987 ! alopecia [Term] id: DOID:9003027 name: Microcephaly, Facial Abnormalities, Micromelia, and Mental Retardation alt_id: MIM:603572 xref: MESH:C566361 is_a: DOID:1059 ! intellectual disability is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003028 name: Glaucoma 1, Open Angle, K alt_id: MIM:608696 synonym: "Glaucoma, Primary Open Angle, Juvenile-Onset, 3" EXACT [] synonym: "GLC1K" EXACT [] synonym: "JOAG3" EXACT [] xref: MESH:C563873 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9003029 name: Congenital Stridor alt_id: RDO:0012539 xref: MESH:C563163 is_a: DOID:9003157 ! Respiratory Sounds is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9003030 name: Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis synonym: "SOFT" EXACT [] synonym: "SOFT Syndrome" EXACT [] xref: MIM:614813 is_a: DOID:4535 ! hypotrichosis is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9003031 name: Osteopetrosis and Infantile Neuroaxonal Dystrophy synonym: "Infantile osteopetrosis and neuronal storage disease" EXACT [] synonym: "Prenatal axonal dystrophy and osteopetrosis" EXACT [] xref: MESH:C536055 xref: RDO:0001470 is_a: DOID:13533 ! osteopetrosis is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:9003032 name: Undiagnosed Diseases def: "Rare and common diseases lacking a diagnosis." [MESH:D000080842] synonym: "MESH:D000080842" EXACT [] is_a: DOID:9000817 ! Disease Attributes created_by: slaulede creation_date: 2020-02-07T14:11:09Z [Term] id: DOID:9003033 name: Familial Joint Laxity alt_id: MIM:147900 synonym: "Articular hypermobility syndrome" EXACT [] synonym: "Familial joint instability syndrome" EXACT [] synonym: "Joint instability syndrome" EXACT [] xref: MESH:C535884 is_a: DOID:9005077 ! Joint Instability [Term] id: DOID:9003034 name: Anti-N-Methyl-D-Aspartate Receptor Encephalitis def: "Disorder characterized by symptoms of CATATONIA; HYPOVENTILATION; DYSKINESIAS; ENCEPHALITIS; and SEIZURES followed by a reduced CONSCIOUSNESS. It is often followed by a viral-like prodrome. Many cases are self-limiting and respond well to IMMUNOMODULATORY THERAPIES against the NMDA RECEPTORS antibodies." [MESH:D060426] synonym: "Anti-NMDA Receptor Encephalitides" EXACT [] synonym: "Anti NMDA Receptor Encephalitis" EXACT [] synonym: "Anti-NMDAR Encephalitides" EXACT [] synonym: "Anti NMDAR Encephalitis" EXACT [] synonym: "Anti-N-Methyl-D-Aspartate Receptor Encephalitides" EXACT [] synonym: "Non paraneoplastic Anti NMDA Receptor Encephalitis" EXACT [] synonym: "Non-paraneoplastic Anti-NMDAR Encephalitides" EXACT [] synonym: "Non paraneoplastic Anti NMDAR Encephalitis" EXACT [] synonym: "Non paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis" EXACT [] synonym: "Paraneoplastic Anti NMDA Receptor Encephalitis" EXACT [] synonym: "Paraneoplastic Anti-NMDAR Encephalitides" EXACT [] synonym: "Paraneoplastic Anti NMDAR Encephalitis" EXACT [] synonym: "Paraneoplastic Anti N Methyl D Aspartate Receptor Encephalitis" EXACT [] xref: MESH:D060426 is_a: DOID:438 ! autoimmune disease of the nervous system is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes is_a: DOID:9588 ! encephalitis [Term] id: DOID:9003035 name: Sensorineural Deafness with Peripheral Neuropathy and Arterial Disease alt_id: MIM:124950 xref: MESH:C565120 is_a: DOID:0050830 ! peripheral artery disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1389 ! polyneuropathy [Term] id: DOID:9003036 name: Oral Lichen Planus def: "Oral lesions accompanying cutaneous lichen planus or often occurring alone. The buccal mucosa, lips, gingivae, floor of the mouth, and palate are usually affected (in a descending order of frequency). Typically, oral lesions consist of radiating white or gray, velvety, threadlike lines, arranged in a reticular pattern, at the intersection of which there may be minute, white, elevated dots or streaks (Wickham's striae). (Jablonski, Illustrated Dictionary of Dentistry)" [MESH:D017676] xref: EFO:0008517 xref: MESH:D017676 is_a: DOID:403 ! mouth disease is_a: DOID:9201 ! lichen planus [Term] id: DOID:9003037 name: Turner Syndrome-Associated Neurocognitive Phenotype xref: MESH:C564058 xref: RDO:0013148 is_a: DOID:3491 ! Turner syndrome [Term] id: DOID:9003038 name: X Inactivation, Familial Skewed, 2 alt_id: MIM:300179 synonym: "SXI2" EXACT [] xref: MESH:C564572 is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:9003039 name: Immunodeficiency 76 synonym: "IMD76" EXACT [] xref: MIM:619164 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-02-12T11:24:09Z [Term] id: DOID:9003040 name: Squamous Intraepithelial Lesions of the Cervix def: "A cytological test finding often from PAP SMEARS that shows abnormal lesions of SQUAMOUS EPITHELIAL CELLS of the CERVIX. It is a diagnostic criterion used in the Bethesda System for UTERINE CERVICAL NEOPLASMS and represents the PAP TEST result that is abnormal. Although squamous intraepithelial lesions test result does not mean UTERINE CERVICAL NEOPLASMS it requires follow-ups (e.g., HPV DNA TESTS; and COLPOSCOPY)." [MESH:D065310] xref: MESH:D065310 xref: RDO:0015971 is_a: DOID:9006096 ! Uterine Cervical Dysplasia is_a: DOID:9007320 ! Squamous Intraepithelial Lesions [Term] id: DOID:9003041 name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 alt_id: RDO:9001317 def: "This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. (OMIM)" [] synonym: "CCND2-RELATED CONDITION" EXACT [] synonym: "MPPH3" EXACT [] xref: MIM:615938 is_a: DOID:9002403 ! Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome created_by: rgd creation_date: 2017-01-31T00:00:00Z [Term] id: DOID:9003042 name: male breast carcinoma def: "This is a malignant neoplasm involving the male breast." [EFO:0006861] synonym: "carcinoma of the male breast" EXACT [] xref: EFO:0006861 is_a: DOID:1614 ! male breast cancer is_a: DOID:3459 ! breast carcinoma created_by: slaulede creation_date: 2022-09-09T17:52:54Z [Term] id: DOID:9003044 name: Selective Tooth Agenesis 10 def: "Agenesis of multiple teeth of the permanent dentition caused by homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22." [] synonym: "STHAG10" EXACT [] xref: MIM:620173 is_a: DOID:0050591 ! tooth agenesis created_by: mtutaj creation_date: 2022-12-21T15:26:26Z [Term] id: DOID:9003046 name: Braddock-Carey Syndrome 1 def: "Characterized by Pierre-Robin sequence, persistent congenital thrombocytopenia, agenesis of the corpus callosum, severe developmental delay, microcephaly, high forehead, sparse curly hair, downslanting palpebral fissures, telecanthus, inverted U-shaped upper vermilion, enamel hypoplasia, large posteriorly rotated ears, clinodactyly, and camptodactyly. Is a contiguous gene deletion syndrome involving chromosome 21q22." [MIM:619980] synonym: "BRDCS1" EXACT [] xref: MIM:619980 is_a: DOID:9008270 ! Braddock Carey Syndrome created_by: mtutaj creation_date: 2022-08-01T08:32:40Z [Term] id: DOID:9003047 name: ECTODERMAL DYSPLASIA WITH FACIAL DYSMORPHISM AND ACRAL, OCULAR, AND BRAIN ANOMALIES def: "This disease is characterized by linear hypopigmentation and craniofacial asymmetry in association with ocular, dental, and acral anomalies." [MIM:618727] synonym: "Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic" EXACT [] synonym: "EDFAOB" EXACT [] xref: MIM:618727 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:2490 ! congenital nervous system abnormality is_a: DOID:9005660 ! Hypopigmentation is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulede creation_date: 2021-08-12T16:04:55Z [Term] id: DOID:9003048 name: Hypophosphatemic Rickets and Hyperparathyroidism alt_id: MIM:612089 xref: MESH:C567423 is_a: DOID:11202 ! primary hyperparathyroidism is_a: DOID:9001458 ! Hypophosphatemic Rickets [Term] id: DOID:9003049 name: Femur Head Necrosis alt_id: MIM:608805 alt_id: MIM:617383 def: "Aseptic or avascular necrosis of the femoral head. The major types are idiopathic (primary), as a complication of fractures or dislocations, and LEGG-CALVE-PERTHES DISEASE." [MESH:D005271] synonym: "ANFH" EXACT [] synonym: "ANFH1" NARROW [] synonym: "ANFH2" NARROW [] synonym: "Aseptic Necrosis of Femur Head" EXACT [] synonym: "Avascular Necrosis Of Femoral Head, Primary" EXACT [] synonym: "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 1" NARROW [] synonym: "AVASCULAR NECROSIS OF FEMORAL HEAD, PRIMARY, 2" NARROW [] synonym: "Avascular Necrosis of Femur Head" EXACT [] synonym: "FEMORAL HEAD, ASEPTIC NECROSIS OF" EXACT [] synonym: "Femoral Head, Avascular Necrosis Of" EXACT [] synonym: "Femur Head Necroses" EXACT [] synonym: "idiopathic osteonecrosis of the femoral head" NARROW [] synonym: "Ischemic Necrosis Of Femoral Head" EXACT [] synonym: "osteonecrosis of femoral head" EXACT [] xref: EFO:1001930 xref: MESH:D005271 xref: NCI:C35447 is_a: DOID:10159 ! osteonecrosis [Term] id: DOID:9003050 name: Multiple Exostoses Type I def: "Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent. Multiple exostoses type I (EXT1) is caused by heterozygous mutation in the gene encoding exostosin-1 (EXT1) on chromosome 8q24. (OMIM)" [] synonym: "EXT" EXACT [] synonym: "EXT1" EXACT [] synonym: "hereditary multiple exostoses 1" EXACT [] xref: MIM:133700 is_a: DOID:206 ! hereditary multiple exostoses [Term] id: DOID:9003052 name: Multinodular Goiter 2 alt_id: MIM:300273 synonym: "MNG2" EXACT [] xref: MESH:C564546 is_a: DOID:0050489 ! multinodular goiter [Term] id: DOID:9003053 name: BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME def: "This disease is an autosomal recessive complex ciliopathy with multisystemic manifestations." [MIM:619534] synonym: "BRENS" EXACT [] synonym: "BRENS SYNDROME" EXACT [] xref: MIM:619534 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:557 ! kidney disease is_a: DOID:863 ! nervous system disease is_a: DOID:9741 ! biliary tract disease created_by: slaulede creation_date: 2021-12-07T13:59:06Z [Term] id: DOID:9003054 name: Kuster Syndrome xref: MESH:C538126 is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9296 ! cleft lip [Term] id: DOID:9003055 name: Mitochondrial Complex II Deficiency Nuclear Type 1 synonym: "MC2DN1" EXACT [] xref: MIM:252011 is_a: DOID:0060537 ! mitochondrial complex II deficiency created_by: mtutaj creation_date: 2021-02-01T15:43:02Z [Term] id: DOID:9003056 name: Short-Rib Thoracic Dysplasia 20 with Polydactyly synonym: "SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY, DIGENIC" RELATED [] synonym: "SHORT-RIB THORACIC DYSPLASIA 7/20 WITH POLYDACTYLY, DIGENIC" RELATED [] synonym: "SRTD20" EXACT [] xref: MIM:617925 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy created_by: slaulede creation_date: 2018-06-01T10:20:43Z [Term] id: DOID:9003057 name: Laryngeal Nerve Injuries def: "Traumatic injuries to the LARYNGEAL NERVE." [MESH:D061224] synonym: "Laryngeal Nerve Avulsion" EXACT [] synonym: "Laryngeal Nerve Avulsions" EXACT [] synonym: "Laryngeal Nerve Contusion" EXACT [] synonym: "Laryngeal Nerve Contusions" EXACT [] synonym: "Laryngeal Nerve Injury" EXACT [] synonym: "Laryngeal Nerve Transection" EXACT [] synonym: "Laryngeal Nerve Transections" EXACT [] synonym: "Laryngeal Nerve Trauma" EXACT [] synonym: "Laryngeal Nerve Traumas" EXACT [] synonym: "Traumatic Laryngeal Neuropathies" EXACT [] synonym: "Traumatic Laryngeal Neuropathy" EXACT [] xref: MESH:D061224 xref: RDO:0010061 is_a: DOID:786 ! laryngeal disease is_a: DOID:9008629 ! Vagus Nerve Injuries [Term] id: DOID:9003058 name: Hypodontia Oligodontia with Orofacial Cleft xref: MESH:C566995 xref: RDO:0015185 is_a: DOID:13714 ! anodontia is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:9003059 name: Kifafa Seizure Disorder alt_id: MIM:245180 synonym: "Complex familial seizure disorder" EXACT [] synonym: "Vitsala" EXACT [] xref: MESH:C537708 is_a: DOID:1826 ! epilepsy [Term] id: DOID:9003062 name: Jones Syndrome alt_id: MIM:135550 synonym: "fibromatosis gingival progressive deafness" EXACT [] synonym: "gingival fibromatosis with progressive deafness" EXACT [] synonym: "gingival fibromatosis with sensorineural hearing loss" EXACT [] xref: MESH:C535886 is_a: DOID:0060466 ! gingival fibromatosis is_a: DOID:225 ! syndrome is_a: DOID:9008681 ! Deafness [Term] id: DOID:9003063 name: Cerebrohepatorenal Syndrome, Variant Types synonym: "Zellweger Syndrome, Variant Types" EXACT [] xref: MESH:C565861 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:9003064 name: Bork Stender Schmidt Syndrome alt_id: MIM:191482 synonym: "Bork syndrome" EXACT [] synonym: "uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly" EXACT [] xref: MESH:C536576 is_a: DOID:0050581 ! brachydactyly is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1091 ! tooth disease is_a: DOID:225 ! syndrome [Term] id: DOID:9003065 name: Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia" EXACT [] xref: MESH:C564330 is_a: DOID:0060135 ! apraxia is_a: DOID:9006051 ! Alzheimer's Disease, Familial, 3, with Spastic Paraparesis [Term] id: DOID:9003066 name: Intracranial Tuberculomas def: "A well-circumscribed mass composed of tuberculous granulation tissue that may occur in the cerebral hemispheres, cerebellum, brain stem, or perimeningeal spaces. Multiple lesions are quite common. Management of intracranial manifestations vary with lesion site. Intracranial tuberculomas may be associated with SEIZURES, focal neurologic deficits, and INTRACRANIAL HYPERTENSION. Spinal cord tuberculomas may be associated with localized or radicular pain, weakness, sensory loss, and incontinence. Tuberculomas may arise as OPPORTUNISTIC INFECTIONS, but also occur in immunocompetent individuals." [MESH:D020306] synonym: "intracranial tubercular abscess" EXACT [] synonym: "intracranial tuberculoma" EXACT [] xref: MESH:D016862 is_a: DOID:1638 ! central nervous system tuberculosis is_a: DOID:9007931 ! Tuberculoma [Term] id: DOID:9003067 name: Cervical Hypertrichosis with Underlying Kyphoscoliosis alt_id: MIM:117850 synonym: "Hypertrichosis, Posterior Cervical, with Underlying Kyphoscoliosis" EXACT [] xref: MESH:C566142 is_a: DOID:0060249 ! scoliosis is_a: DOID:420 ! hypertrichosis is_a: DOID:4667 ! kyphosis [Term] id: DOID:9003068 name: Familial Frontonasal Dermoid Cysts alt_id: MIM:600679 xref: MESH:C563455 is_a: DOID:2658 ! dermoid cyst is_a: DOID:9007971 ! Nose Neoplasms [Term] id: DOID:9003069 name: Tessadori-van Haaften Neurodevelopmental Syndrome 3 def: "Characterized by global developmental delay with poor overall growth, impaired intellectual development, and speech difficulties. caused by heterozygous mutation in the H4C5 gene on chromosome 6p21." [MIM:619950] synonym: "TEVANED3" EXACT [] xref: MIM:619950 is_a: DOID:9008554 ! Tessadori-van Haaften Neurodevelopmental Syndrome created_by: mtutaj creation_date: 2022-07-18T10:56:15Z [Term] id: DOID:9003070 name: Mental Retardation with Optic Atrophy, Facial Dysmorphism, Microcephaly, and Short Stature alt_id: MIM:609037 xref: MESH:C563810 is_a: DOID:1059 ! intellectual disability is_a: DOID:5723 ! optic atrophy is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003071 name: Postaxial Polydactyly synonym: "AUTOSOMAL RECESSIVE NONSYNDROMIC POSTAXIAL POLYDACTYLY" NARROW [] xref: MIM:PS174200 is_a: DOID:1148 ! polydactyly created_by: mtutaj creation_date: 2019-07-10T12:10:25Z [Term] id: DOID:9003072 name: Iridocorneal Endothelial Syndrome alt_id: RDO:0007783 def: "A grouping of three closely linked conditions: iris nevus (or Cogan-Reese) syndrome, Chandler Syndrome, and essential (progressive) iris atrophy. The most common features of this syndrome are the movement of endothelial cells off the cornea onto the iris leading to corneal swelling, distortion of the iris, and variable degrees of distortion of the pupil. The abnormal cell movement plugs fluid outflow channels of the eye causing GLAUCOMA." [MESH:D057129] synonym: "Dystrophy Endothelial Cornea" EXACT [] synonym: "Dystrophy Endothelial Corneas" EXACT [] synonym: "Iridocorneal Endothelial Syndromes" EXACT [] synonym: "Iris Atrophy with Corneal Edema and Glaucoma" EXACT [] xref: MESH:D057129 is_a: DOID:0060443 ! corneal endothelial dystrophy is_a: DOID:225 ! syndrome is_a: DOID:240 ! iris disease [Term] id: DOID:9003073 name: Organizing Pneumonia def: "Any obstructive lung disease characterized by consolidated formation of GRANULATION TISSUE polyps within ALVEOLAR DUCTS AND ALVEOLI. It is classified as either primary (cryptogenic organizing pneumonia) or secondary organizing pneumonia. Secondary organizing pneumonia after transplantation is called bronchiolitis obliterans syndrome." [] xref: MESH:D000092124 is_a: DOID:2799 ! bronchiolitis obliterans created_by: mtutaj creation_date: 2022-12-12T14:04:25Z [Term] id: DOID:9003074 name: Foreign Bodies def: "Inanimate objects that become enclosed in the body." [MESH:D005547] synonym: "Foreign Body" EXACT [] synonym: "foreign body in gastrointestinal tract" NARROW [] synonym: "Foreign Object" EXACT [] synonym: "Foreign Objects" EXACT [] synonym: "Gossypiboma" EXACT [] synonym: "Gossypibomas" EXACT [] synonym: "Retained Surgical Instrument" EXACT [] synonym: "Retained Surgical Instruments" EXACT [] synonym: "Retained Surgical Item" EXACT [] synonym: "Retained Surgical Items" EXACT [] synonym: "Retained Surgical Needle" EXACT [] synonym: "Retained Surgical Needles" EXACT [] synonym: "Retained Surgical Sponge" EXACT [] synonym: "Retained Surgical Sponges" EXACT [] synonym: "Retained Surgical Tool" EXACT [] synonym: "Retained Surgical Tools" EXACT [] synonym: "Textiloma" EXACT [] synonym: "Textilomas" EXACT [] xref: EFO:0009525 xref: EFO:0009526 xref: MESH:D005547 xref: RDO:0004990 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9003075 name: Lamellar Ichthyosis, Autosomal Dominant Form alt_id: MIM:146750 synonym: "ADLI" EXACT [] synonym: "autosomal-dominant lamellar ichthyosis" EXACT [] synonym: "lamellar ichthyosis, dominant" EXACT [] synonym: "nonbullous ichthyosiform erythroderma, dominant form" EXACT [] xref: MESH:C537263 is_a: DOID:1697 ! ichthyosis [Term] id: DOID:9003076 name: Porokeratosis 9, Multiple Types def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the FDPS gene on chromosome 1q22 have been found to cause multiple types of porokeratosis (POROK9), which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP). (OMIM)" [] synonym: "POROK9" EXACT [] xref: MIM:616631 xref: MONDO:0014713 is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9003077 name: Stiff Thumbs, with Brachydactyly Type A1 and Developmental Delay alt_id: MIM:188201 xref: MESH:C566053 is_a: DOID:0110964 ! brachydactyly type A1 is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9003078 name: Abdominal Neoplasms def: "New abnormal growth of tissue in the ABDOMEN." [MESH:D000008] synonym: "Abdominal Neoplasm" EXACT [] xref: MESH:D000008 xref: RDO:0001323 is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9003079 name: Dowling-Degos Disease 4 synonym: "DDD4" EXACT [] synonym: "POGLUT1-RELATED CONDITION" BROAD [] xref: MIM:615696 is_a: DOID:0060256 ! Dowling-Degos disease [Term] id: DOID:9003080 name: pulmonary amyloidosis def: "Amyloidosis is characterized by amyloid extracellular deposition in organs and tissues. Pulmonary involvement is a rare manifestation of the disease and it can be focal or as part of systemic amyloidosis." [EFO:1001910] synonym: "amyloidosis of the lung" EXACT [] synonym: "pulmonary nodular amyloidosis" NARROW [] xref: EFO:1001910 xref: EFO:1001911 is_a: DOID:9007454 ! amyloidoma created_by: slaulede creation_date: 2022-10-17T12:41:11Z [Term] id: DOID:9003081 name: Growth Retardation, Developmental Delay, Coarse Facies, and Early Death alt_id: MIM:612938 synonym: "GDFD" EXACT [] synonym: "GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM" EXACT [] xref: MESH:C567856 is_a: DOID:9001276 ! Failure to Thrive is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9003082 name: Ribbing Disease alt_id: MIM:601477 synonym: "hereditary multiple diaphyseal sclerosis" EXACT [] synonym: "multiple diaphyseal sclerosis" EXACT [] xref: MESH:C537613 is_a: DOID:4997 ! Camurati-Engelmann disease is_a: DOID:9007574 ! Osteoid Osteoma [Term] id: DOID:9003084 name: Primary Autosomal Recessive Microcephaly 25 def: "MCPH25 is caused by homozygous mutation in the MAP11 gene on chromosome 7q22. (OMIM)" [] synonym: "MCPH25" EXACT [] xref: MIM:618351 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: mtutaj creation_date: 2019-03-12T10:54:08Z [Term] id: DOID:9003085 name: Neoplasms, Post-Traumatic def: "Tumors, cancer or other neoplasms caused by or resulting from trauma or other non-radiation injuries." [MESH:D017169] synonym: "Post Traumatic Cancer" EXACT [] synonym: "Post-Traumatic Cancers" EXACT [] synonym: "Post-Traumatic Malignancies" EXACT [] synonym: "Post-Traumatic Malignancy" EXACT [] synonym: "Post-Traumatic Neoplasm" EXACT [] xref: MESH:D017169 xref: RDO:0007034 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:9003086 name: Congenital Nystagmus 8 def: "A bilateral horizontal nystagmus in the absence of other neurologic signs or symptoms, caused by homozygous mutation in the ROBO1 gene on chromosome 3p12." [MIM:257400] synonym: "congenital nystagmus 8, autosomal recessive" EXACT [] synonym: "NYS8" EXACT [] xref: MIM:257400 is_a: DOID:9649 ! congenital nystagmus created_by: mtutaj creation_date: 2023-04-07T10:00:53Z [Term] id: DOID:9003087 name: Al Kaissi Syndrome alt_id: RDO:9004998 def: "An autosomal recessive developmental disorder characterized by growth retardation, spine malformation, particularly of the cervical spine, dysmorphic facial features, and delayed psychomotor development with moderate to severe intellectual disability. (OMIM)" [] synonym: "ALKAS" EXACT [] synonym: "GROWTH RETARDATION, SPINE MALFORMATION, DYSMORPHIC FACIES, AND DEVELOPMENTAL DELAY" EXACT [] xref: MIM:617694 is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-11-13T00:00:00Z [Term] id: DOID:9003089 name: Autosomal Dominant Deafness 39 with Dentinogenesis Imperfecta 1 alt_id: MIM:605594 synonym: "Deafness, autosomal dominant nonsyndromic sensorineural 39, with dentinogenesis imperfecta 1" NARROW [] synonym: "DFNA39/DGI1 SYNDROME" EXACT [] synonym: "DFNA39-Dentinogenesis Imperfecta 1 Syndrome" EXACT [] xref: MESH:C565316 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:4154 ! dentinogenesis imperfecta [Term] id: DOID:9003090 name: Hyperreninemic Hypoaldosteronism, Familial, 2 alt_id: MIM:606984 synonym: "FHHA2" EXACT [] xref: MESH:C564638 is_a: DOID:9005658 ! Hypoaldosteronism [Term] id: DOID:9003091 name: Noonan Like Syndrome synonym: "NOONAN-LIKE DISORDER" EXACT [] synonym: "Noonan-like-multiple giant cell lesion syndrome" NARROW [] synonym: "Noonan-like syndrome disorder" EXACT [] synonym: "Noonan-related syndrome" EXACT [] synonym: "NOONAN SYNDROME-LIKE DEVELOPMENTAL DISORDER" NARROW [] synonym: "Noonan syndrome with pigmented villonodular synovitis" NARROW [] xref: MESH:C537846 is_a: DOID:3490 ! Noonan syndrome is_a: DOID:9000640 ! Giant Cell Granuloma [Term] id: DOID:9003092 name: Glomerulonephritis with Isolated C3 Deposits and Factor H Deficiency alt_id: DOID:9001625 synonym: "Membranoproliferative Glomerulonephritis, Type Ii, With Complement Factor H Deficiency" EXACT [] synonym: "MPGN II with Complement Factor H Deficiency" EXACT [] is_a: DOID:2920 ! membranoproliferative glomerulonephritis [Term] id: DOID:9003093 name: Ectodermal Dysplasia, Trichoodontoonychial Type alt_id: MIM:129510 xref: MESH:C565068 is_a: DOID:13714 ! anodontia is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:9003094 name: Adult Refsum Disease, 1 alt_id: RDO:0012016 xref: MESH:C567602 is_a: DOID:10582 ! Refsum disease [Term] id: DOID:9003095 name: Aphonia def: "Complete loss of phonation due to organic disease of the larynx or to nonorganic (i.e., psychogenic) causes." [MESH:D001044] synonym: "Absence of Voice" EXACT [] synonym: "Aphonia Paralytica" EXACT [] synonym: "Functional Aphonia" EXACT [] synonym: "Functional Aphonias" EXACT [] synonym: "Nonorganic Aphonia" EXACT [] synonym: "Nonorganic Aphonias" EXACT [] synonym: "Spastic Aphonia" EXACT [] synonym: "Spastic Aphonias" EXACT [] synonym: "Voice Absence" EXACT [] synonym: "Voice Absences" EXACT [] xref: MESH:D001044 is_a: DOID:9006046 ! Voice Disorders [Term] id: DOID:9003096 name: Keratoconus 4 alt_id: MIM:609271 synonym: "KTCN4" EXACT [] xref: MESH:C563752 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9003097 name: Benign Familial Hematuria 2 def: "A benign familial hematuria caused by heterozygous mutation in the COL4A3 gene on chromosome 2q36." [] synonym: "BFH2" EXACT [] xref: MIM:620320 is_a: DOID:0111365 ! benign familial hematuria created_by: mtutaj creation_date: 2023-04-14T09:07:23Z [Term] id: DOID:9003098 name: Taurodontism alt_id: MIM:272700 synonym: "Bull teeth" EXACT [] synonym: "Large pulp chambers, in the molars" EXACT [] xref: MESH:C536946 is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9003099 name: Gagging def: "Contraction of the muscle of the PHARYNX caused by stimulation of sensory receptors on the SOFT PALATE, by psychic stimuli, or systemically by drugs." [MESH:D005683] synonym: "Pharyngeal Reflex" EXACT [] xref: MESH:D005683 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9003100 name: Pancreatic Neoplasms synonym: "Borderline Exocrine Pancreatic Neoplasm" NARROW [] synonym: "pancreas neoplasm" EXACT [] synonym: "Pancreas Neoplasms" EXACT [] synonym: "pancreatic neoplasm" EXACT [] xref: EFO:0003860 xref: EFO:1000133 xref: NCI:C34035 is_a: DOID:26 ! pancreas disease is_a: DOID:9004351 ! Digestive System Neoplasms is_a: DOID:9007803 ! Endocrine Gland Neoplasms [Term] id: DOID:9003101 name: Spina Bifida, Folate-Sensitive xref: MESH:C566648 is_a: DOID:0080016 ! spina bifida [Term] id: DOID:9003102 name: Parathyroid Gland Hyperplasia def: "This is non-neoplastic proliferation of the parathyroid parenchymal cells in multiple parathyroid glands." [NCI:C3989] synonym: "Hyperplasia of Parathyroid" EXACT [] synonym: "Hyperplasia of the Parathyroid" EXACT [] synonym: "Parathyroid Hyperplasia" EXACT [] xref: EFO:1000457 is_a: DOID:11201 ! parathyroid gland disease is_a: DOID:9002221 ! Hyperplasia created_by: slaulede creation_date: 2023-01-27T10:34:51Z [Term] id: DOID:9003104 name: Intracranial Hemorrhages def: "Bleeding within the SKULL, including hemorrhages in the brain and the three membranes of MENINGES. The escape of blood often leads to the formation of HEMATOMA in the cranial epidural, subdural, and subarachnoid spaces." [MESH:D020300] synonym: "Brain Hemorrhage" EXACT [] synonym: "Brain Hemorrhages" EXACT [] synonym: "intracranial hemorrhage" EXACT [] synonym: "Posterior Fossa Hemorrhage" EXACT [] synonym: "posterior fossa hemorrhages" EXACT [] xref: EFO:0000551 xref: MESH:D020300 is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9003105 name: Spirurida Infections def: "Infections with nematodes of the order SPIRURIDA." [MESH:D017205] synonym: "Habronemiases" EXACT [] synonym: "Habronemiasis" EXACT [] synonym: "Spirurida Infection" EXACT [] xref: MESH:D017205 is_a: DOID:9004401 ! Secernentea Infections [Term] id: DOID:9003106 name: Renoprival Hypertension xref: MESH:C537760 xref: RDO:0003657 is_a: DOID:1073 ! renal hypertension [Term] id: DOID:9003107 name: Non Ketotic Hyperglycinemia Syndrome xref: MESH:C000601856 xref: RDO:0016037 is_a: DOID:225 ! syndrome is_a: DOID:9268 ! glycine encephalopathy [Term] id: DOID:9003108 name: CEREBELLAR ATAXIA INFANTILE WITH PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:12558 ! chronic progressive external ophthalmoplegia created_by: slaulede creation_date: 2019-09-10T14:56:54Z [Term] id: DOID:9003109 name: Benign Familial Neonatal Seizures, 2 alt_id: MIM:121201 alt_id: RDO:0000592 alt_id: RDO:0015788 synonym: "autosomal dominant form of benign neonatal seizures" BROAD [] synonym: "benign familial neonatal convulsions, 2" EXACT [] synonym: "benign familial neonatal convulsions, dominant form" BROAD [] synonym: "benign familial neonatal seizures" BROAD [] synonym: "benign neonatal epilepsy, 2" EXACT [] synonym: "BFNC2" EXACT [] synonym: "BFNS2" EXACT [] xref: MESH:C535466 is_a: DOID:14264 ! benign neonatal seizures is_a: DOID:14777 ! benign familial neonatal epilepsy [Term] id: DOID:9003110 name: LEUKOENCEPHALOPATHY, DEVELOPMENTAL DELAY, AND EPISODIC NEUROLOGIC REGRESSION SYNDROME def: "A disease characterized by global developmental delay apparent in early childhood, followed by episodic neurologic regression or decompensation associated with systemic stress, such as febrile infection. Affected individuals have hypotonia, gait difficulties or ataxia, poor or absent speech with dysarthria, and variable motor abnormalities, including spasticity, dystonia, extrapyramidal signs, and tremor. Brain imaging shows diffuse white matter abnormalities, poor myelination, thin corpus callosum, and generalized cerebral atrophy with enlarged ventricles. The clinical features of the disorder and the abnormal brain imaging findings are progressive." [MIM:618877] synonym: "EIF2AK2-RELATED CONDITION" EXACT [] synonym: "LEUDEN" EXACT [] synonym: "LEUDEN SYNDROME" EXACT [] xref: MIM:618877 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2020-07-10T11:10:53Z [Term] id: DOID:9003111 name: Growth Retardation, Small and Puffy Hands and Feet, and Eczema alt_id: MIM:233810 xref: MESH:C565528 is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007356 ! Eczema is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9003112 name: Human Bites def: "Bites inflicted by humans." [MESH:D001734] synonym: "Human Bite" EXACT [] xref: MESH:D001734 is_a: DOID:9002550 ! Bites and Stings [Term] id: DOID:9003113 name: Hearing Loss, Mixed Conductive-Sensorineural def: "Hearing loss due to damage or impairment of both the conductive elements (HEARING LOSS, CONDUCTIVE) and the sensorineural elements (HEARING LOSS, SENSORINEURAL) of the ear." [MESH:D046089] synonym: "Losses, Mixed Hearing" EXACT [] synonym: "Mixed Hearing Loss" EXACT [] xref: MESH:D046089 xref: RDO:0007525 is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9003114 name: Reynolds Syndrome synonym: "PRIMARY BILIARY CIRRHOSIS, SCLERODERMA, RAYNAUD DISEASE, AND TELANGIECTASIA" EXACT [] xref: MIM:613471 is_a: DOID:10300 ! Raynaud disease is_a: DOID:12236 ! primary biliary cholangitis is_a: DOID:1272 ! telangiectasis is_a: DOID:418 ! systemic scleroderma [Term] id: DOID:9003116 name: Muscle Cramps, Familial alt_id: MIM:158400 alt_id: MIM:218050 xref: MESH:C563563 is_a: DOID:9000373 ! Muscle Cramp [Term] id: DOID:9003117 name: Zygomycosis def: "Infection in humans and animals caused by fungi in the class Zygomycetes. It includes MUCORMYCOSIS and entomophthoramycosis. The latter is a tropical infection of subcutaneous tissue or paranasal sinuses caused by fungi in the order Entomophthorales. Phycomycosis, closely related to zygomycosis, describes infection with members of Phycomycetes, an obsolete classification." [MESH:D020096] synonym: "Entomophthoramycoses" EXACT [] synonym: "Entomophthoramycosis" EXACT [] synonym: "Phycomycoses" EXACT [] synonym: "Phycomycosis" EXACT [] synonym: "Zygomycoses" EXACT [] xref: MESH:D020096 xref: RDO:0006146 is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:9003118 name: Testicular Germ Cell Tumor 1 alt_id: MIM:300228 synonym: "TGCT1" EXACT [] xref: MESH:C564559 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9003654 ! Testicular Germ Cell Tumor [Term] id: DOID:9003119 name: Nonsyndromic Oculocutaneous Albinism is_a: DOID:0050632 ! oculocutaneous albinism created_by: mtutaj creation_date: 2020-04-22T15:08:06Z [Term] id: DOID:9003120 name: Hirschsprung Disease with Type D Brachydactyly alt_id: MIM:306980 synonym: "Familial Hirschsprung's disease and type D brachydactyly" EXACT [] synonym: "Hirschsprung Disease Type D Brachydactyly" EXACT [] xref: MESH:C538319 is_a: DOID:0110971 ! brachydactyly type D is_a: DOID:10487 ! Hirschsprung's disease [Term] id: DOID:9003121 name: Thromboembolism def: "Obstruction of a blood vessel (embolism) by a blood clot (THROMBUS) in the blood stream." [MESH:D013923] synonym: "Thromboembolisms" EXACT [] xref: MESH:D013923 is_a: DOID:9001268 ! Embolism and Thrombosis [Term] id: DOID:9003122 name: Rhabdomyoma def: "A benign tumor derived from striated muscle. It is extremely rare, generally occurring in the tongue, neck muscles, larynx, uvula, nasal cavity, axilla, vulva, and heart. These tumors are treated by simple excision. (Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" [MESH:D012207] synonym: "Rhabdomyomas" EXACT [] xref: MESH:D012207 is_a: DOID:2691 ! myoma [Term] id: DOID:9003123 name: Theodor Hertz Goodman Syndrome synonym: "Symphalangism, short stature, skeletal anomalies, and accessory testis" EXACT [] xref: MESH:C536509 is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9003124 name: Labrune Syndrome alt_id: MIM:614561 synonym: "LCC" EXACT [] synonym: "leukoencephalopathy, brain calcifications and cysts" EXACT [] xref: MESH:C000598644 is_a: DOID:182 ! calcinosis is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9003857 ! Central Nervous System Cysts [Term] id: DOID:9003125 name: Male Genital Neoplasms alt_id: RDO:0005657 def: "Tumor or cancer of the MALE GENITALIA." [MESH:D005834] synonym: "male genital neoplasm" EXACT [] synonym: "male reproductive system neoplasm" EXACT [] synonym: "neoplasm of male genital organ" EXACT [] synonym: "tumor of male reproductive system" EXACT [] xref: MESH:D005834 is_a: DOID:48 ! male reproductive system disease is_a: DOID:9007150 ! Urogenital Neoplasms [Term] id: DOID:9003126 name: Hallucinations def: "Subjectively experienced sensations in the absence of an appropriate stimulus, but which are regarded by the individual as real. They may be of organic origin or associated with MENTAL DISORDERS." [MESH:D006212] synonym: "Auditory Hallucination" EXACT [] synonym: "Auditory Hallucinations" EXACT [] synonym: "Body Sensation Hallucination" EXACT [] synonym: "Body Sensation Hallucinations" EXACT [] synonym: "Dissociative Hallucination" EXACT [] synonym: "Dissociative Hallucinations" EXACT [] synonym: "Elementary Hallucination" EXACT [] synonym: "Elementary Hallucinations" EXACT [] synonym: "Gustatory Hallucination" EXACT [] synonym: "Gustatory Hallucinations" EXACT [] synonym: "Hallucination" EXACT [] synonym: "Hallucination of Body Sensation" EXACT [] synonym: "Hallucinations, Formed, of People" EXACT [] synonym: "Hallucinations, Internal Body Sensation" EXACT [] synonym: "Hallucinations, Visual, Formed" EXACT [] synonym: "Hallucinations, Visual, Unformed" EXACT [] synonym: "Hypnagogic Hallucination" EXACT [] synonym: "Hypnagogic Hallucinations" EXACT [] synonym: "Hypnapompic Hallucination" EXACT [] synonym: "Hypnapompic Hallucinations" EXACT [] synonym: "Kinesthetic Hallucination" EXACT [] synonym: "Kinesthetic Hallucinations" EXACT [] synonym: "Mood Congruent Hallucination" EXACT [] synonym: "Mood Congruent Hallucinations" EXACT [] synonym: "Mood Incongruent Hallucination" EXACT [] synonym: "Mood Incongruent Hallucinations" EXACT [] synonym: "Olfactory Hallucination" EXACT [] synonym: "Olfactory Hallucinations" EXACT [] synonym: "Organic Hallucination" EXACT [] synonym: "Organic Hallucinations" EXACT [] synonym: "Reflex Hallucination" EXACT [] synonym: "Reflex Hallucinations" EXACT [] synonym: "Sensory Hallucination" EXACT [] synonym: "Sensory Hallucinations" EXACT [] synonym: "Somatic Hallucination" EXACT [] synonym: "Somatic Hallucinations" EXACT [] synonym: "Tactile Hallucination" EXACT [] synonym: "Tactile Hallucinations" EXACT [] synonym: "Verbal Auditory Hallucination" EXACT [] synonym: "Verbal Auditory Hallucinations" EXACT [] synonym: "Visual Hallucination" EXACT [] synonym: "Visual Hallucinations" EXACT [] xref: MESH:D006212 is_a: DOID:9004523 ! Perceptual Disorders [Term] id: DOID:9003127 name: Skin/Hair/Eye Pigmentation, Variation In, 11 alt_id: MIM:612271 synonym: "Melanesian Blond Hair" EXACT [] synonym: "SHEP11" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 11, Blue-Nonblue Eyes" EXACT [] xref: MESH:C567374 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9003128 name: Ectopic Tooth Eruption def: "An abnormality in the direction of a TOOTH ERUPTION." [MESH:D014079] synonym: "Ectopic Tooth Eruptions" EXACT [] xref: MESH:D014079 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9003129 name: Chromosome 3, Monosomy 3p25 synonym: "Deletion 3p25" EXACT [] synonym: "Monosomy 3p25" EXACT [] xref: MESH:C536807 xref: RDO:0002499 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9003130 name: Russell-Silver Syndrome, X-Linked alt_id: MIM:312780 synonym: "Russell-Silver-Like Syndrome with Skin Pigmentation" EXACT [] xref: MESH:C562446 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10123 ! pigmentation disease is_a: DOID:14681 ! Silver-Russell syndrome [Term] id: DOID:9003131 name: Myocardial Contusions def: "Bruise to the heart muscle due to blunt thoracic trauma. " [MESH:D000071956] synonym: "Blunt Cardiac Injuries" EXACT [] synonym: "Blunt Cardiac Injury" EXACT [] synonym: "Cardiac Contusion" EXACT [] synonym: "Cardiac Contusions" EXACT [] synonym: "Contusio Cordis" EXACT [] synonym: "Heart Contusion" EXACT [] synonym: "Heart Contusions" EXACT [] synonym: "Myocardial Contusion" EXACT [] xref: MESH:D000071956 xref: RDO:0016111 is_a: DOID:9005166 ! Contusions is_a: DOID:9007588 ! Heart Injuries [Term] id: DOID:9003132 name: Sialorrhea def: "Increased salivary flow." [MESH:D012798] synonym: "Drooling" EXACT [] synonym: "Hypersalivation" EXACT [] xref: MESH:D012798 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:9003133 name: Hypertelorism alt_id: MIM:145400 def: "Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid." [MESH:D006972] synonym: "Hypertelorisms" EXACT [] xref: MESH:D006972 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003134 name: tracheal neoplasm def: "This is a new abnormal growth of tissue that involves the trachea." [EFO:1001437] synonym: "EFO:1001437" RELATED [] synonym: "neoplasm of trachea" EXACT [] synonym: "tracheal tumor" EXACT [] synonym: "trachea neoplasm" EXACT [] synonym: "trachea tumor" EXACT [] synonym: "tumor of trachea" EXACT [] xref: EFO:1001437 xref: MONDO:0021210 xref: NCI:C3419 is_a: DOID:3225 ! tracheal disease is_a: DOID:9003744 ! Respiratory Tract Neoplasms created_by: slaulede creation_date: 2022-09-13T14:00:25Z [Term] id: DOID:9003135 name: Chromosome 8, Mosaic Trisomy synonym: "Trisomy 8 Mosaicism" EXACT [] synonym: "Uniparental disomy of 8" EXACT [] xref: MESH:C537940 is_a: DOID:9003960 ! Trisomy is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9003136 name: Familial Acne Inversa 1 synonym: "ACNINV1" EXACT [] synonym: "NCSTN-RELATED CONDITION" EXACT [] xref: MIM:142690 is_a: DOID:9008895 ! Familial Hidradenitis Suppurativa created_by: mtutaj creation_date: 2021-07-16T16:02:31Z [Term] id: DOID:9003137 name: Photophobia def: "Abnormal sensitivity to light. This may occur as a manifestation of EYE DISEASES; MIGRAINE; SUBARACHNOID HEMORRHAGE; MENINGITIS; and other disorders. Photophobia may also occur in association with DEPRESSION and other MENTAL DISORDERS." [MESH:D020795] synonym: "Light Sensitivities" EXACT [] synonym: "Light Sensitivity" EXACT [] synonym: "Photophobias" EXACT [] xref: MESH:D020795 xref: RDO:0001514 is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:9003138 name: Familial Multiple Coagulation Factor Deficiency VI alt_id: MIM:134540 synonym: "combined deficiency of factor IX and factor XI" EXACT [] synonym: "FMFD VI" EXACT [] synonym: "MCFD6" EXACT [] synonym: "Multiple Coagulation Factor Deficiency VI" EXACT [] xref: MESH:C565022 is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:9003139 name: Cardiac Fibrosis def: "A pathological condition where fibrous connective tissue invades the heart, usually as a consequence of inflammation or other injury." [] synonym: "atrial fibrosis" RELATED [] synonym: "heart fibrosis" EXACT [] synonym: "myocardial fibrosis" RELATED [] is_a: DOID:114 ! heart disease is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:9003140 name: Peptide Growth Factors Deficiency synonym: "Hoepffner dreyer reimers syndrome" EXACT [] synonym: "Peptidic growth factors deficiency" EXACT [] xref: MESH:C536656 xref: RDO:0002297 is_a: DOID:5688 ! Werner syndrome [Term] id: DOID:9003141 name: Acquired Pure Megakaryocytic Aplasia xref: MESH:C538176 xref: RDO:0004118 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:4961 ! bone marrow disease [Term] id: DOID:9003142 name: Massa Casaer Ceulemans Syndrome synonym: "Arthrogryposis multiplex congenita associated with lissencephaly" EXACT [] xref: MESH:C536031 xref: RDO:0001443 is_a: DOID:0050453 ! lissencephaly is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome [Term] id: DOID:9003143 name: Hyperparathyroidism 4 synonym: "HRPT4" EXACT [] xref: MIM:617343 xref: MONDO:0024570 is_a: DOID:9009250 ! Familial Isolated Hyperparathyroidism [Term] id: DOID:9003144 name: Jejunal Diseases def: "Pathological development in the JEJUNUM region of the SMALL INTESTINE." [MESH:D007579] synonym: "Jejunal Disease" EXACT [] xref: MESH:D007579 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9003145 name: Nuchal Bleb, Familial alt_id: MIM:257350 alt_id: RDO:0003764 synonym: "Fetal cystic hygroma" EXACT [] xref: MESH:C537852 is_a: DOID:3081 ! cystic lymphangioma is_a: DOID:9008386 ! Hydrops Fetalis [Term] id: DOID:9003146 name: Uterine Rupture def: "A complete separation or tear in the wall of the UTERUS with or without expulsion of the FETUS. It may be due to injuries, multiple pregnancies, large fetus, previous scarring, or obstruction." [MESH:D014597] synonym: "Uterine Ruptures" EXACT [] xref: MESH:D014597 is_a: DOID:345 ! uterine disease is_a: DOID:9000610 ! Obstetric Labor Complications is_a: DOID:9005630 ! Rupture [Term] id: DOID:9003148 name: Familial Dwarfism with Muscle Spasms alt_id: MIM:600771 xref: MESH:C563447 is_a: DOID:9006743 ! Spasm is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9003149 name: 2-Methylbutyryl-CoA Dehydrogenase Deficiency alt_id: MIM:610006 synonym: "2-MBCD Deficiency" EXACT [] synonym: "2-methylbutyric aciduria" EXACT [] synonym: "2-Methylbutyryl-Coenzyme A Dehydrogenase Deficiency" EXACT [] synonym: "2-Methylbutyryl Glycinuria" EXACT [] synonym: "DEFICIENCY OF 2-METHYLBUTYRYL-COA DEHYDROGENASE" EXACT [] synonym: "SBCADD" EXACT [] synonym: "SBCAD deficiency" EXACT [] synonym: "short-branched-chain acyl-CoA dehydrogenase deficiency" EXACT [] xref: GARD:10322 xref: MESH:C566487 xref: ORDO:79157 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9003150 name: Brenner Tumor def: "A smooth, solid or cystic fibroepithelial (FIBROEPITHELIAL NEOPLASMS) tumor, usually found in the OVARIES but can also be found in the adnexal region and the KIDNEYS. It consists of a fibrous stroma with nests of epithelial cells that sometimes resemble the transitional cells lining the urinary bladder. Brenner tumors generally are benign and asymptomatic. Malignant Brenner tumors have been reported." [] synonym: "benign Brenner tumor" NARROW [] synonym: "proliferative Brenner tumor" EXACT [] xref: MESH:D001948 is_a: DOID:9002762 ! Ovarian Neoplasms is_a: DOID:9007017 ! Fibroepithelial Neoplasms created_by: rgd creation_date: 2016-02-11T00:00:00Z [Term] id: DOID:9003151 name: Myopathy, Actin, Congenital, with Excess of Thin Myofilaments xref: MESH:C563529 xref: RDO:0012762 is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:9003152 name: RHIZOMELIC LIMB SHORTENING WITH DYSMORPHIC FEATURES def: "A disease characterized by rhizomelic shortening of upper and lower extremities and variable dysmorphic features, including macrocephaly, prominent forehead, depressed or broad nasal bridge, and micrognathia." [MIM:618821] synonym: "RLSDF" EXACT [] xref: MIM:618821 is_a: DOID:0080006 ! bone development disease is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2020-08-17T17:38:40Z [Term] id: DOID:9003153 name: FUCOSYLTRANSFERASE 6 DEFICIENCY xref: MIM:613852 xref: MONDO:0013462 is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-02-17T00:00:00Z [Term] id: DOID:9003154 name: Nodding Syndrome def: "Unexplained neurologic condition characterized by episodes of atonic seizures, convulsions or staring spells with further cognitive decline." [MESH:D064128] synonym: "Nodding Syndromes" EXACT [] xref: MESH:D064128 xref: RDO:0015832 is_a: DOID:225 ! syndrome is_a: DOID:9001793 ! Generalized Epilepsy [Term] id: DOID:9003155 name: Parasitic Liver Diseases def: "Liver diseases caused by infections with PARASITES, such as tapeworms (CESTODA) and flukes (TREMATODA)." [MESH:D008109] synonym: "Parasitic Liver Disease" EXACT [] xref: MESH:D008109 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:409 ! liver disease [Term] id: DOID:9003156 name: Peroxisome Biogenesis Disorder, Complementation Group 13 xref: MESH:C566625 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9003157 name: Respiratory Sounds def: "Noises, normal and abnormal, heard on auscultation over any part of the RESPIRATORY TRACT." [MESH:D012135] synonym: "Breathing Sound" EXACT [] synonym: "Breathing Sounds" EXACT [] synonym: "Crackle" EXACT [] synonym: "Crackles" EXACT [] synonym: "Lung Sound" EXACT [] synonym: "Lung Sounds" EXACT [] synonym: "Pleural Rub" EXACT [] synonym: "Pleural Rubs" EXACT [] synonym: "Rale" EXACT [] synonym: "Rales" EXACT [] synonym: "Respiratory Sound" EXACT [] synonym: "Rhonchi" EXACT [] synonym: "Rhonchus" EXACT [] synonym: "Stridor" EXACT [] synonym: "Stridors" EXACT [] synonym: "Wheezing" EXACT [] synonym: "Wheezings" EXACT [] xref: EFO:0009715 xref: MESH:D012135 xref: RDO:0006477 is_a: DOID:9000575 ! Respiratory Signs and Symptoms [Term] id: DOID:9003158 name: Chromosome 6, monosomy 6q2 synonym: "Deletion 6q2" EXACT [] synonym: "Monosomy 6q2" EXACT [] xref: MESH:C537809 xref: RDO:0003713 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9003159 name: Nonsyndromic Deafness, Modifier 1 alt_id: RDO:0008979 synonym: "DFNM1" EXACT [] xref: MIM:605429 is_a: DOID:0050563 ! nonsyndromic deafness [Term] id: DOID:9003160 name: Pancytopenia and Occlusive Vascular Disease alt_id: MIM:167850 xref: MESH:C566836 is_a: DOID:12450 ! pancytopenia is_a: DOID:178 ! vascular disease [Term] id: DOID:9003162 name: Congenital Sulfhemoglobinemia alt_id: MIM:185460 xref: MESH:C566102 is_a: DOID:12451 ! sulfhemoglobinemia [Term] id: DOID:9003163 name: Heart Block alt_id: MIM:209600 def: "Impaired conduction of cardiac impulse that can occur anywhere along the conduction pathway, such as between the SINOATRIAL NODE and the right atrium (SA block) or between atria and ventricles (AV block). Heart blocks can be classified by the duration, frequency, or completeness of conduction block. Reversibility depends on the degree of structural or functional defects." [MESH:D006327] synonym: "Atrioventricular Dissociation" EXACT [] synonym: "Atrioventricular Dissociations" EXACT [] synonym: "Auriculo Ventricular Dissociation" EXACT [] synonym: "Auriculo-Ventricular Dissociations" EXACT [] synonym: "A V Dissociation" EXACT [] synonym: "A-V Dissociations" EXACT [] synonym: "CONDUCTION DISORDER OF THE HEART" EXACT [] synonym: "Heart Blocks" EXACT [] xref: MESH:D006327 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9003164 name: Hereditary Essential Tremor and Idiopathic Normal Pressure Hydrocephalus alt_id: MIM:611808 synonym: "ETINPH" EXACT [] xref: MESH:C567519 is_a: DOID:1572 ! normal pressure hydrocephalus is_a: DOID:4990 ! essential tremor [Term] id: DOID:9003165 name: Miosis def: "Pupillary constriction. This may result from congenital absence of the dilatator pupillary muscle, defective sympathetic innervation, or irritation of the CONJUNCTIVA or CORNEA." [MESH:D015877] synonym: "Constricted Pupil" EXACT [] synonym: "Constricted Pupils" EXACT [] synonym: "Mioses" EXACT [] synonym: "Persistent Mioses" EXACT [] synonym: "Persistent Miosis" EXACT [] synonym: "Pupillary Mioses" EXACT [] synonym: "Pupillary Miosis" EXACT [] synonym: "Small Pupil" EXACT [] synonym: "Small Pupils" EXACT [] xref: MESH:D015877 is_a: DOID:238 ! pupil disease [Term] id: DOID:9003166 name: Corticosteroid-Binding Globulin, Elevated xref: MESH:C566934 xref: RDO:0015142 is_a: DOID:620 ! blood protein disease [Term] id: DOID:9003167 name: Submacular Cysticercosis xref: MESH:C531662 xref: RDO:0000089 is_a: DOID:10079 ! cysticercosis [Term] id: DOID:9003168 name: Diarrhea prodrome + Hemolytic-Uremic Syndrome synonym: "Diarrhea prodrome + HUS" EXACT [] xref: MESH:C531700 is_a: DOID:12554 ! hemolytic-uremic syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9003169 name: Presenile Dementia, Kraepelin Type alt_id: MIM:176600 synonym: "Catatonia of Kraepelin" EXACT [] synonym: "Kraepelin disease" EXACT [] xref: MESH:C535273 is_a: DOID:1307 ! dementia is_a: DOID:9008639 ! Catatonia [Term] id: DOID:9003170 name: Mungan Syndrome alt_id: MIM:611376 synonym: "chronic idiopathic intestinal pseudoobstruction, with Barrett esophagus and cardiac abnormalities" EXACT [] synonym: "familial visceral neuromyopathy, with pseudoobstruction, megaduodenum, Barrett esophagus, and cardiac abnormalities" EXACT [] synonym: "MGS" EXACT [] synonym: "RAD21-RELATED CONDITION" BROAD [] xref: MESH:C548078 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:225 ! syndrome is_a: DOID:9206 ! Barrett's esophagus [Term] id: DOID:9003171 name: Primary Dysautonomias def: "Disorders of the AUTONOMIC NERVOUS SYSTEM occurring as a primary condition. Manifestations can involve any or all body systems but commonly affect the BLOOD PRESSURE and HEART RATE." [MESH:D054969] synonym: "dysautonomia" EXACT [] synonym: "dysautonomias" EXACT [] synonym: "primary dysautonomia" EXACT [] xref: MESH:D054969 is_a: DOID:11465 ! autonomic nervous system disease [Term] id: DOID:9003172 name: X-Linked Modifier for Neurofunctional Defects alt_id: MIM:309840 synonym: "Tourette Syndrome, Modifier of" EXACT [] xref: MESH:C564098 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11119 ! Gilles de la Tourette syndrome [Term] id: DOID:9003173 name: Desmin Storage Myopathy synonym: "Cardiomyopathy due to desmin defect" EXACT [] synonym: "Myopathy with sarcoplasmic bodies and intermediate filaments" EXACT [] xref: MESH:C536103 is_a: DOID:0080307 ! myofibrillar myopathy is_a: DOID:3429 ! inclusion body myositis [Term] id: DOID:9003174 name: Second Metatarsal-Metacarpal Syndrome alt_id: MIM:269630 xref: MESH:C564824 is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9003175 name: Bartonellaceae Infections def: "Infections with bacteria of the family BARTONELLACEAE." [MESH:D001476] synonym: "Bartonellaceae Infection" EXACT [] synonym: "primary Bartonellaceae infectious disease" EXACT [] xref: EFO:1001125 xref: MESH:D001476 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9003176 name: Familial Melanoma, Malignant Intraocular alt_id: MIM:155700 xref: MESH:C563596 is_a: DOID:6846 ! familial melanoma is_a: DOID:9004059 ! Eye Neoplasms [Term] id: DOID:9003177 name: Kowarski Syndrome alt_id: MIM:262650 synonym: "BIODEFECTIVE GROWTH HORMONE" EXACT [] synonym: "Nanism due to growth hormone qualitative anomaly" EXACT [] synonym: "Pituitary dwarfism 4" EXACT [] synonym: "Pituitary dwarfism with normal immunoreactive growth hormone" EXACT [] synonym: "Pituitary Dwarfism With Normal Immunoreactive Growth Hormone And Low Somatomedin" EXACT [] xref: MESH:C537505 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:225 ! syndrome [Term] id: DOID:9003178 name: Familial Platelet Disorder with Associated Myeloid Malignancy alt_id: MIM:601399 alt_id: RDO:0012615 synonym: "FPD/AML" EXACT [] synonym: "FPDAML" EXACT [] synonym: "FPDMM" EXACT [] synonym: "HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGICAL CANCER PREDISPOSITION SYNDROME ASSOCIATED WITH RUNX1" EXACT [] synonym: "HEREDITARY THROMBOCYTOPENIA AND HEMATOLOGIC CANCER PREDISPOSITION SYNDROME" EXACT [] synonym: "Platelet Disorder, Aspirin-Like" EXACT [] synonym: "PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY" EXACT [] synonym: "Thrombocytopenia, Familial, with Propensity to Acute Myelogenous Leukemia" EXACT [] xref: MESH:C563324 xref: NCI:C162696 is_a: DOID:2218 ! blood platelet disease is_a: DOID:9002557 ! Inherited Blood Coagulation Disease is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:9003179 name: Bankart Lesions def: "An anterior capsulolabral injury associated with a tear of the anteroinferior GLENOID LABRUM." [MESH:D000070896] synonym: "Bankart Fractures" EXACT [] synonym: "Bankart Lesion" EXACT [] synonym: "Bankart Tears" EXACT [] synonym: "Bony Bankart Lesion" EXACT [] synonym: "Bony Bankart Lesions" EXACT [] synonym: "Hill Sachs Lesion" EXACT [] synonym: "Hill Sachs Lesions" EXACT [] synonym: "Osseous Bankart Lesion" EXACT [] synonym: "Osseous Bankart Lesions" EXACT [] xref: MESH:D000070896 is_a: DOID:9004624 ! Shoulder Fractures [Term] id: DOID:9003180 name: Chronic Diarrhea with Villous Atrophy alt_id: MIM:520100 xref: MESH:C564019 is_a: DOID:13250 ! diarrhea [Term] id: DOID:9003181 name: Heartburn def: "Substernal pain or burning sensation, usually associated with regurgitation of gastric juice into the esophagus." [MESH:D006356] synonym: "Pyroses" EXACT [] synonym: "Pyrosis" EXACT [] xref: MESH:D006356 xref: RDO:0005730 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9003182 name: Parenti-Mignot Neurodevelopmental Syndrome def: "An autosomal dominant neurodevelopmental disorder frequently characterized by impaired intellectual development, speech delay, motor delay, behavioral problems, and epilepsy. Caused by heterozygous mutation in the CHD5 gene on chromosome 1p36." [MIM:619873] synonym: "PMNDS" EXACT [] xref: MIM:619873 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008514 ! Psychomotor Disorders created_by: mtutaj creation_date: 2022-11-14T13:53:58Z [Term] id: DOID:9003183 name: Seemanova Lesny Syndrome xref: MESH:C537536 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003184 name: Campomelic Dysplasia with Autosomal Sex Reversal xref: MESH:C564282 xref: RDO:0013301 is_a: DOID:0050463 ! campomelic dysplasia is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:9003187 name: Spinocerebellar Atrophy with Pupillary Paralysis alt_id: MIM:183100 xref: MESH:C566668 is_a: DOID:14784 ! olivopontocerebellar atrophy [Term] id: DOID:9003188 name: Neural Crest Tumor synonym: "Neural crest-derived tumors" EXACT [] xref: MESH:C536408 is_a: DOID:9000362 ! Adrenal Gland Neoplasms [Term] id: DOID:9003189 name: Plant Poisoning def: "Poisoning by the ingestion of plants or its leaves, berries, roots or stalks. The manifestations in both humans and animals vary in severity from mild to life threatening. In animals, especially domestic animals, it is usually the result of ingesting moldy or fermented forage." [MESH:D010939] synonym: "Plant Poisonings" EXACT [] xref: MESH:D010939 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9003190 name: Nguyen Syndrome alt_id: MIM:609643 synonym: "MCA/MR WITH HYPOCHOLESTEROLEMIA DUE TO FAMILIAL HYPOBETALIPOPROTEINEMIA" EXACT [] xref: MESH:C536115 is_a: DOID:1390 ! hypobetalipoproteinemia is_a: DOID:225 ! syndrome [Term] id: DOID:9003191 name: Vascular Malformations def: "A spectrum of congenital, inherited, or acquired abnormalities in BLOOD VESSELS that can adversely affect the normal blood flow in ARTERIES or VEINS. Most are congenital defects such as abnormal communications between blood vessels (fistula), shunting of arterial blood directly into veins bypassing the CAPILLARIES (arteriovenous malformations), formation of large dilated blood blood-filled vessels (cavernous angioma), and swollen capillaries (capillary telangiectases). In rare cases, vascular malformations can result from trauma or diseases." [MESH:D054079] synonym: "gastrointestinal vascular malformation" NARROW [] synonym: "GIVM" NARROW [] synonym: "Vascular Malformation" EXACT [] xref: EFO:0006888 xref: MESH:D054079 xref: RDO:0004910 is_a: DOID:9002682 ! Cardiovascular Abnormalities [Term] id: DOID:9003193 name: Neurodevelopmental Disorder with Central and Peripheral Motor Dysfunction def: "Neurodevelopmental disorder with central and peripheral motor dysfunction (NEDCPMD) is an autosomal recessive neurologic disorder with a highly variable phenotype. At the severe end of the spectrum, patients may have hypotonia apparent from birth, necessitating mechanical respiration and tube-feeding, and global developmental delay with absence of reaction to touch and no eye contact. At the mild end of the spectrum, patients may present with infantile-onset progressive ataxia and demyelinating peripheral neuropathy. The disorder is caused by mutation in the NFASC gene, which has several neuronal- and glial-specific transcripts. The variable clinical phenotype may be caused by several factors, including the severity of the mutation, the selective involvement of distinct isoforms by pathogenic variants, and the presence of genetic modifiers. NEDCPMD is caused by homozygous mutation in the NFASC gene on chromosome 1q32. (OMIM)" [] synonym: "NEDCPMD" EXACT [] xref: MIM:618356 is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: gthayman creation_date: 2019-03-15T15:34:28Z [Term] id: DOID:9003194 name: Eye Pain def: "A dull or sharp painful sensation associated with the outer or inner structures of the eyeball, having different causes." [MESH:D058447] synonym: "Eye Pains" EXACT [] xref: MESH:D058447 is_a: DOID:9000641 ! Pain is_a: DOID:9001020 ! Eye Manifestations [Term] id: DOID:9003195 name: Hereditary Angioedema 7 def: "An autosomal dominant disorder characterized by onset of recurrent episodic swelling of the face, lips, and oral mucosa in the second decade. Caused by heterozygous mutation in the MYOF gene on chromosome 10q24." [MIM:619366] synonym: "HAE7" EXACT [] synonym: "MYOF-RELATED CONDITION" EXACT [] xref: MIM:619366 is_a: DOID:14735 ! hereditary angioedema created_by: mtutaj creation_date: 2021-06-11T11:56:41Z [Term] id: DOID:9003196 name: Penile Neoplasms def: "Cancers or tumors of the PENIS or of its component tissues." [MESH:D010412] synonym: "neoplasm of penis" EXACT [] synonym: "penile neoplasm" EXACT [] synonym: "penile tumor" EXACT [] synonym: "penis neoplasm" EXACT [] synonym: "penis neoplasms" EXACT [] xref: EFO:1001094 xref: MESH:D010412 xref: NCI:C3317 is_a: DOID:1529 ! penile disease is_a: DOID:9003125 ! Male Genital Neoplasms created_by: mtutaj creation_date: 2020-04-21T07:14:33Z [Term] id: DOID:9003197 name: Vaso-occlusive Crisis def: "A common painful complication of sickle cell anemia in adolescents and adults." [] synonym: "Hemoglobin SS disease with vasoocclusive crisis" EXACT [] is_a: DOID:10923 ! sickle cell anemia created_by: rgd creation_date: 2016-06-06T00:00:00Z [Term] id: DOID:9003198 name: Cardiac Papillary Fibroelastoma def: "Primary tumors, predominantly of the CARDIAC VALVES, characterized by multiple papillary frond structures. Although histologically benign, they may result in complications (e.g., valve dysfunction, EMBOLISM; STROKE; and SUDDEN DEATH). (MESH)" [] synonym: "Papillary Fibroelastoma" EXACT [] xref: MESH:D000084122 is_a: DOID:4079 ! heart valve disease is_a: DOID:9006547 ! Heart Neoplasms created_by: mtutaj creation_date: 2020-12-21T20:53:26Z [Term] id: DOID:9003199 name: Systemic Vasculitis def: "A heterogeneous group of diseases characterized by inflammation and necrosis of the blood vessel walls." [MESH:D056647] synonym: "SNV" EXACT [] synonym: "Systemic necrotizing vasculitis" EXACT [] synonym: "Systemic Vasculitides" EXACT [] xref: MESH:D056647 is_a: DOID:865 ! vasculitis [Term] id: DOID:9003201 name: Westphal Disease synonym: "Westphal variant of Huntington's disease" EXACT [] xref: MESH:C536694 xref: RDO:0002345 is_a: DOID:12858 ! Huntington's disease is_a: DOID:893 ! Wilson disease [Term] id: DOID:9003202 name: Pulmonary Hemorrhage synonym: "Hemorrhagic Lung" EXACT [] synonym: "Intra-Alveolar Hemorrhage" EXACT [] xref: RDO:9000749 is_a: DOID:850 ! lung disease is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9003203 name: Intra-Articular Fractures def: "Fractures of the articular surface of a bone." [MESH:D057072] synonym: "Intra-Articular Fracture" EXACT [] synonym: "Intraarticular Fracture" EXACT [] synonym: "Intraarticular Fractures" EXACT [] xref: MESH:D057072 xref: RDO:0007775 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9003204 name: Neovascularization, Pathologic def: "A pathologic process consisting of the proliferation of blood vessels in abnormal tissues or in abnormal positions." [MESH:D009389] synonym: "Pathological Angiogenesis" EXACT [] synonym: "Pathological Neovascularization" EXACT [] synonym: "Pathologic Angiogenesis" EXACT [] xref: MESH:D009389 xref: RDO:0003942 is_a: DOID:9000156 ! Metaplasia [Term] id: DOID:9003205 name: Heart-Hand Syndrome, Slovenian Type alt_id: MIM:610140 xref: MESH:C535852 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006138 ! Laminopathies [Term] id: DOID:9003206 name: Renal Dysplasia - Limb Defects Syndrome alt_id: MIM:266910 synonym: "Renal dysplasia, mesomelia, and radiohumeral fusion" EXACT [] synonym: "Ulbright Hodes syndrome" EXACT [] xref: MESH:C537754 is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease is_a: DOID:9001487 ! Facies is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9003207 name: Fibrinolytic Defect alt_id: MIM:134900 xref: MESH:C565017 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:9003208 name: Progressive Psychomotor Deterioration synonym: "Neurologic deterioration" EXACT [] synonym: "Progressive mental deterioration" EXACT [] synonym: "Progressive neurodegeneration" EXACT [] synonym: "Worsening neurological symptoms" EXACT [] xref: HP:0002344 is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9002775 ! Cognitive Dysfunction created_by: slaulede creation_date: 2020-03-17T17:11:32Z [Term] id: DOID:9003209 name: Bacterial Skin Diseases def: "Skin diseases caused by bacteria." [MESH:D017192] synonym: "Bacterial Skin Disease" EXACT [] xref: MESH:D017192 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9000859 ! Infectious Skin Diseases [Term] id: DOID:9003211 name: Chromosome 9, Trisomy 9q synonym: "Duplication 9q" EXACT [] synonym: "Trisomy 9q" EXACT [] xref: MESH:C538030 xref: RDO:0003964 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9003212 name: Visceral Heterotaxy 6, Autosomal synonym: "HTX6" EXACT [] xref: MIM:614779 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:9003213 name: Familial Synovial Chondromatosis with Dwarfism alt_id: MIM:186575 xref: MESH:C566087 is_a: DOID:9001695 ! Synovial Chondromatosis is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9003214 name: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative synonym: "JAK3-RELATED CONDITION" EXACT [] synonym: "SCID, autosomal recessive, T-negative/B-positive type" EXACT [] synonym: "SCID, T Cell-Negative, B Cell-Positive, NK Cell-Negative" EXACT [] xref: MESH:C563440 xref: MIM:600802 xref: MONDO:0010938 xref: ORDO:35078 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:9003215 name: Brachydactyly Type A5 Nail Dysplasia synonym: "Absent middle phalanges of digits 2-5 with nail dysplasia" EXACT [] synonym: "Brachydactyly, Type A5, With Nail Dysplasia" EXACT [] xref: MESH:C537091 xref: RDO:0002865 is_a: DOID:0050581 ! brachydactyly is_a: DOID:4123 ! nail disease [Term] id: DOID:9003216 name: Salivary Gland Neoplasms def: "Tumors or cancer of the SALIVARY GLANDS." [MESH:D012468] synonym: "Benign Salivary Gland Myoepithelioma" NARROW [] synonym: "Salivary Gland Neoplasm" EXACT [] xref: EFO:0003826 xref: EFO:1000119 xref: MESH:D012468 is_a: DOID:10854 ! salivary gland disease is_a: DOID:9007364 ! Mouth Neoplasms [Term] id: DOID:9003217 name: Prepapillary Vascular Loops alt_id: MIM:264060 synonym: "Preretinal Vascular Loops" EXACT [] xref: MESH:C563287 is_a: DOID:9003191 ! Vascular Malformations is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9003218 name: Distal Arthrogryposis, Moore Weaver Type alt_id: RDO:0002506 synonym: "Moore Weaver syndrome" EXACT [] xref: MESH:C536814 is_a: DOID:0050646 ! distal arthrogryposis [Term] id: DOID:9003219 name: Invasive Pulmonary Aspergillosis def: "Lung infections with the invasive forms of ASPERGILLUS, usually after surgery, transplantation, prolonged NEUTROPENIA or treatment with high-doses of CORTICOSTEROIDS. Invasive pulmonary aspergillosis can progress to CHRONIC NECROTIZING PULMONARY ASPERGILLOSIS or hematogenous spread to other organs." [MESH:D055744] synonym: "Allergic Bronchopulmonary Mycoses" EXACT [] synonym: "Allergic Bronchopulmonary Mycosis" EXACT [] synonym: "Chronic Necrotizing Pulmonary Aspergillosis" EXACT [] synonym: "Invasive Pulmonary Aspergilloses" EXACT [] synonym: "IPA" EXACT [] xref: MESH:D055744 is_a: DOID:0050073 ! invasive aspergillosis is_a: DOID:9006058 ! Invasive Fungal Infections [Term] id: DOID:9003220 name: Immunodeficiency due to Ficolin 3 Deficiency synonym: "FCN3 Deficiency" EXACT [] synonym: "Ficolin 3 Deficiency" EXACT [] synonym: "LCAPD3" EXACT [] synonym: "LECTIN COMPLEMENT ACTIVATION PATHWAY, DEFECT IN, 3" EXACT [] xref: MIM:613860 is_a: DOID:9002118 ! Lectin Complement Activation Pathway Defects [Term] id: DOID:9003221 name: Progressive Mucinous Histiocytosis alt_id: MIM:142630 xref: MESH:C564186 is_a: DOID:3405 ! histiocytosis is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms [Term] id: DOID:9003222 name: Platelet granule deficiency disorder xref: MESH:C531691 xref: RDO:0000114 is_a: DOID:0111044 ! gray platelet syndrome [Term] id: DOID:9003223 name: Corneal Graft Rejection def: "A process in which a transplant recipient's immune system attacks the transplanted cornea. Each layer of the cornea can undergo rejection, endothelial rejection being the most severe form." [] synonym: "corneal transplant rejection" EXACT [] xref: RDO:9000102 is_a: DOID:10124 ! corneal disease is_a: DOID:9004283 ! Transplant Rejection [Term] id: DOID:9003224 name: Ectodermal Dysplasia, Sensorineural Hearing Loss, and Distinctive Facial Features alt_id: MIM:609944 xref: MESH:C536182 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9001487 ! Facies [Term] id: DOID:9003225 name: NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME def: "A disease characterized by phenotypic diversity, with patients exhibiting a range of overlapping phenotypes, including abnormalities of fingers and toes. Brain imaging shows hypoplasia of the corpus callosum, prominence of lateral ventricles, and/or white matter abnormalities." [MIM:618914] synonym: "FBXW11-RELATED NEURODEVELOPMENTAL, BRAIN, EYE, AND DIGIT ANOMALIES" EXACT [] synonym: "MIM:618914" EXACT [] synonym: "NEDJED" EXACT [] xref: MIM:618914 is_a: DOID:5614 ! eye disease is_a: DOID:9003876 ! Jaw Diseases is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006294 ! Congenital Limb Deformities created_by: slaulede creation_date: 2020-11-09T18:25:04Z [Term] id: DOID:9003226 name: Parotid Aplasia or Hypoplasia xref: MESH:C566702 xref: RDO:0014981 is_a: DOID:10302 ! parotid disease [Term] id: DOID:9003228 name: Tooth Loss def: "The failure to retain teeth as a result of disease or injury." [MESH:D016388] xref: MESH:D016388 is_a: DOID:1091 ! tooth disease is_a: DOID:3388 ! periodontal disease [Term] id: DOID:9003229 name: Rh-Null Disease, Amorph Type alt_id: MIM:111700 alt_id: MIM:617970 def: "The amorph RH-null phenotype arises from mutations at the RH locus itself that silence Rh expression and cause mild to moderate hemolytic anemia. Red blood cells exhibit characteristic morphologic and functional abnormalities including spherocytosis, stomatocytosis, and diminished lifespan. (OMIM)" [] synonym: "amorph type of RH-null phenotype" EXACT [] synonym: "BLOOD GROUP--RHESUS SYSTEM Cc/Ee POLYPEPTIDE" RELATED [] synonym: "RHESUS BLOOD GROUP, CcEe ANTIGENS" RELATED [] synonym: "RHNA" EXACT [] synonym: "RH-null, amorph type" EXACT [] xref: MESH:C566210 is_a: DOID:589 ! congenital hemolytic anemia [Term] id: DOID:9003230 name: Graft Occlusion, Vascular def: "Obstruction of flow in biological or prosthetic vascular grafts." [MESH:D006083] synonym: "GCAD" EXACT [] synonym: "Graft Coronary Artery Disease" EXACT [] synonym: "Graft Restenoses, Vascular" EXACT [] synonym: "Vascular Graft Restenosis" EXACT [] synonym: "vein graft stenosis" NARROW [] xref: EFO:0007051 xref: MESH:D006083 is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9003232 name: Kallmann Syndrome 5 xref: MESH:C567220 is_a: DOID:0090084 ! hypogonadotropic hypogonadism 5 with or without anosmia is_a: DOID:3614 ! Kallmann syndrome [Term] id: DOID:9003233 name: Furcation Defects def: "Conditions in which a bifurcation or trifurcation of the molar tooth root becomes denuded as a result of periodontal disease. It may be followed by tooth mobility, temperature sensitivity, pain, and alveolar bone resorption." [MESH:D017823] synonym: "Furcation Defect" EXACT [] xref: MESH:D017823 xref: RDO:0007083 is_a: DOID:3388 ! periodontal disease [Term] id: DOID:9003234 name: Hypertensive Nephropathy alt_id: MIM:608026 synonym: "HNP1" EXACT [] xref: MESH:C563161 xref: RDO:0012537 is_a: DOID:1073 ! renal hypertension is_a: DOID:10952 ! nephritis [Term] id: DOID:9003235 name: Trichodental Syndrome alt_id: MIM:601453 synonym: "Tricho-dental dysplasia" EXACT [] synonym: "Trichodental dysplasia" EXACT [] synonym: "Tricho-dental syndrome" EXACT [] xref: MESH:C536551 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9001034 ! Odontodysplasia [Term] id: DOID:9003236 name: Sacral Plexopathy xref: MESH:C537224 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:9003237 name: Cardiovascular Infections def: "Pathological conditions of the CARDIOVASCULAR SYSTEM caused by infections." [MESH:D053821] synonym: "Cardiovascular Infection" EXACT [] xref: MESH:D053821 is_a: DOID:1287 ! cardiovascular system disease [Term] id: DOID:9003238 name: Accutane Embryopathy synonym: "Accutane-exposed pregnancies" EXACT [] synonym: "Isotretinoin (RoAccutane) embryopathy" EXACT [] synonym: "Isotretinoin embryopathy" EXACT [] xref: MESH:C535670 xref: RDO:0000921 is_a: DOID:9007828 ! Abnormalities, Drug-Induced [Term] id: DOID:9003239 name: Femoral Facial Syndrome synonym: "Femoral dysgenesis, bilateral" EXACT [] synonym: "Femoral dysgenesis, bilateral-Robin anomaly" EXACT [] synonym: "Femoral hypoplasia-unusual facies syndrome" EXACT [] synonym: "FFS" EXACT [] synonym: "FHUFS" EXACT [] xref: GARD:61 xref: MESH:C537916 xref: MIM:134780 xref: MONDO:0007604 xref: ORDO:1988 is_a: DOID:225 ! syndrome is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome [Term] id: DOID:9003240 name: Tay-Sachs Disease, Variant B1 synonym: "HEXA, Czechoslovakian Allele" RELATED [] xref: MESH:C564785 is_a: DOID:3320 ! Tay-Sachs disease [Term] id: DOID:9003241 name: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME def: "This disease is characterized by global developmental delay with speech delay and behavioral abnormalities, including autism spectrum disorder and ADHD. Affected individuals also show movement disorders, such as dyspraxia and apraxia." [MIM:619680] synonym: "MASNS" EXACT [] xref: MIM:619680 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-02-08T15:23:52Z [Term] id: DOID:9003242 name: Paresthesia def: "Subjective cutaneous sensations (e.g., cold, warmth, tingling, pressure, etc.) that are experienced spontaneously in the absence of stimulation." [MESH:D010292] synonym: "Distal Paresthesia" EXACT [] synonym: "distal paresthesias" EXACT [] synonym: "Dysesthesia" EXACT [] synonym: "Dysesthesias" EXACT [] synonym: "Formication" EXACT [] synonym: "Formications" EXACT [] synonym: "Painful Paresthesia" EXACT [] synonym: "Painful Paresthesias" EXACT [] synonym: "paresthesias" EXACT [] xref: MESH:D010292 is_a: DOID:9008625 ! Somatosensory Disorders [Term] id: DOID:9003243 name: Watermelon Stomach Disease xref: MESH:C538665 xref: RDO:0004584 is_a: DOID:2493 ! gastric antral vascular ectasia [Term] id: DOID:9003245 name: Pseudoxanthoma Elasticum-Like Disorder with Multiple Coagulation Factor Deficiency alt_id: MIM:610842 synonym: "GGCX-RELATED CONDITION" BROAD [] synonym: "PXE-Like Disorder with Multiple Coagulation Factor Deficiency" EXACT [] xref: MESH:C563654 xref: RDO:0012853 is_a: DOID:2738 ! pseudoxanthoma elasticum is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:9003248 name: Central Serous Chorioretinopathy def: "A visual impairment characterized by the accumulation of fluid under the retina through a defect in the retinal pigment epithelium." [MESH:D056833] synonym: "Central Serous Chorioretinopathies" EXACT [] synonym: "Central Serous Retinopathies" EXACT [] synonym: "Central Serous Retinopathy" EXACT [] synonym: "chronic central serous chorioretinopathy" NARROW [] synonym: "type II central serous retinopathy" NARROW [] xref: EFO:0009363 xref: EFO:0009784 xref: MESH:D056833 xref: RDO:0007763 is_a: DOID:5679 ! retinal disease [Term] id: DOID:9003249 name: Glycosylphosphatidylinositol Biosynthesis Defect 17 def: "An autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood." [MIM:618010] synonym: "GPIBD17" EXACT [] synonym: "PIGH-RELATED CONDITION" EXACT [] xref: MIM:618010 is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: slaulede creation_date: 2018-12-06T15:26:40Z [Term] id: DOID:9003250 name: Cardioacrofacial Dysplasia 2 synonym: "CAFD2" EXACT [] xref: MIM:619143 is_a: DOID:9000250 ! Cardioacrofacial Dysplasia created_by: mtutaj creation_date: 2021-01-04T16:59:19Z [Term] id: DOID:9003251 name: CEREBELLAR ATROPHY, DEVELOPMENTAL DELAY, AND SEIZURES synonym: "CADEDS" EXACT [] xref: MIM:617643 xref: RDO:9005145 is_a: DOID:1826 ! epilepsy is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9277 ! primary cerebellar degeneration created_by: rgd creation_date: 2017-11-30T00:00:00Z [Term] id: DOID:9003252 name: Axial Mesodermal Dysplasia Spectrum synonym: "Russell Weaver Bull syndrome" EXACT [] xref: MESH:C537790 is_a: DOID:10488 ! imperforate anus is_a: DOID:2907 ! Goldenhar syndrome is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003253 name: Myxoma def: "A benign neoplasm derived from connective tissue, consisting chiefly of polyhedral and stellate cells that are loosely embedded in a soft mucoid matrix, thereby resembling primitive mesenchymal tissue. It occurs frequently intramuscularly where it may be mistaken for a sarcoma. It appears also in the jaws and the skin. (From Stedman, 25th ed)" [MESH:D009232] synonym: "Angiomyxoma" NARROW [] synonym: "Angiomyxomas" NARROW [] synonym: "Myxomas" EXACT [] xref: EFO:1000087 xref: MESH:D009232 is_a: DOID:9003944 ! Connective Tissue Neoplasms [Term] id: DOID:9003254 name: Genetic Nondisjunction alt_id: MIM:158250 def: "The failure of homologous CHROMOSOMES or CHROMATIDS to segregate during MITOSIS or MEIOSIS with the result that one daughter cell has both of a pair of parental chromosomes or chromatids and the other has none." [MESH:D009630] synonym: "Genetic Non Disjunction" EXACT [] synonym: "Genetic Non-Disjunctions" EXACT [] synonym: "Genetic Nondisjunctions" EXACT [] xref: MESH:D009630 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9003255 name: Immunodeficiency 99 with Hypogammaglobulinemia and Autoimmune Cytopenias def: "An autosomal recessive immunologic disorder characterized by the onset of recurrent sinopulmonary infections in early childhood. Caused by homozygous mutation in the CTNNBL1 gene on chromosome 20q11." [MIM:619846] synonym: "IMD99" EXACT [] xref: MIM:619846 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2022-04-28T11:51:25Z [Term] id: DOID:9003256 name: Adrenocortical Unresponsiveness to Acth with Postreceptor Defect alt_id: MIM:202355 synonym: "Familial Glucocorticoid Deficiency Due To Defect Distal To Acth Receptor" EXACT [] xref: MESH:C565971 is_a: DOID:3952 ! adrenal cortex disease [Term] id: DOID:9003258 name: CEREBELLAR ATAXIA, BRAIN ABNORMALITIES, AND CARDIAC CONDUCTION DEFECTS def: "This disease is an autosomal recessive, primarily neurologic disorder with variable manifestations." [MIM:619576] synonym: "CABAC" EXACT [] xref: MIM:619576 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:9003163 ! Heart Block is_a: DOID:936 ! brain disease created_by: slaulede creation_date: 2021-12-07T14:07:40Z [Term] id: DOID:9003259 name: Marles Greenberg Persaud Syndrome alt_id: MIM:248450 synonym: "Manitoba Oculotrichoanal Syndrome" EXACT [] synonym: "Manitoba Trichoanal syndrome" EXACT [] synonym: "Marles syndrome" EXACT [] synonym: "MOTA" EXACT [] xref: MESH:C536022 is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003260 name: Familial Hemiplegic Migraine 4 synonym: "familial hemiplegic migraine, type 4" EXACT [] synonym: "FHM4" EXACT [] synonym: "MGR6" EXACT [] synonym: "migraine with or without aura, susceptibility to, 6" EXACT [] xref: MESH:C564385 xref: MIM:607516 xref: MONDO:0800335 is_a: DOID:0060178 ! familial hemiplegic migraine is_a: DOID:12783 ! migraine without aura [Term] id: DOID:9003261 name: Adnexal Diseases def: "Diseases of the uterine appendages (ADNEXA UTERI) including diseases involving the OVARY, the FALLOPIAN TUBES, and ligaments of the uterus (BROAD LIGAMENT; ROUND LIGAMENT)." [MESH:D000291] synonym: "Adnexal Disease" EXACT [] xref: MESH:D000291 xref: RDO:0002411 is_a: DOID:229 ! female reproductive system disease [Term] id: DOID:9003262 name: Sex Chromosome Disorders of Sex Development def: "Congenital conditions of atypical sexual development associated with abnormal sex chromosome constitutions including MONOSOMY; TRISOMY; and MOSAICISM." [MESH:D058533] synonym: "Sex Chromosome DSD" EXACT [] synonym: "Sex Chromosome DSDs" EXACT [] xref: MESH:D058533 xref: RDO:0000370 is_a: DOID:1923 ! disorder of sexual development is_a: DOID:9004151 ! Sex Chromosome Disorders [Term] id: DOID:9003263 name: Phosphoenolpyruvate Carboxykinase Deficiency synonym: "PHOSPHOENOLPYRUVATE CARBOXYKINASE (GTP) DEFICIENCY" EXACT [] synonym: "Phosphoenolpyruvate carboxykinase-1 (PCK1) deficiency" EXACT [] synonym: "Phosphoenolpyruvate carboxylase deficiency" EXACT [] synonym: "Phosphopyruvate carboxylase deficiency" EXACT [] xref: MESH:C536654 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:409 ! liver disease [Term] id: DOID:9003264 name: Mirhosseini-Holmes-Walton Syndrome alt_id: MIM:268050 synonym: "pigmentary retinopathy and impaired intellectual development" EXACT [] synonym: "pigmentary retinopathy and mental retardation" EXACT [] synonym: "pigmentary retinopathy, mental retardation" EXACT [] xref: MESH:C538367 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome [Term] id: DOID:9003265 name: Spondylocamptodactyly alt_id: MIM:600000 synonym: "Camptodactyly with cervical platyspondyly" EXACT [] synonym: "Spondylo camptodactyly syndrome" EXACT [] xref: MESH:C535779 is_a: DOID:0060564 ! spinal disease is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9003267 name: Campomelia Cumming Type alt_id: MIM:211890 synonym: "Cervical lymphocele with bowed long bones" EXACT [] synonym: "Cumming syndrome" EXACT [] xref: MESH:C537966 is_a: DOID:0050463 ! campomelic dysplasia is_a: DOID:4347 ! lymphocele is_a: DOID:9005988 ! Multicystic Dysplastic Kidney [Term] id: DOID:9003268 name: Rigidity and Multifocal Seizure Syndrome, Lethal Neonatal synonym: "LETHAL NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "RMFSL" EXACT [] xref: EFO:0009144 xref: MIM:614498 xref: NCI:C154618 xref: RDO:9000509 is_a: DOID:11832 ! visual epilepsy [Term] id: DOID:9003269 name: Sudden Cardiac Failure, Infantile synonym: "PPA2-RELATED DISORDERS" BROAD [] synonym: "SCFI" EXACT [] xref: MIM:617222 is_a: DOID:9007925 ! Sudden Cardiac Death [Term] id: DOID:9003270 name: Microtia-Anotia alt_id: MIM:600674 alt_id: OMIA:001952 xref: MESH:C563457 is_a: DOID:9001502 ! Congenital Microtia [Term] id: DOID:9003271 name: White Dot Syndromes def: "A group of idiopathic multifocal posterior uveitis syndromes involving the CHOROID; RETINAL PIGMENT EPITHELIUM; and RETINA. They are characterized by multiple lesions of hypoautofluorescent dots in the FUNDUS OCULI and reduced VISUAL ACUITY. Several entities including BIRDSHOT CHORIORETINOPATHY are HLA-A ANTIGENS serotype A29 positive. (MESH)" [] synonym: "Acute Idiopathic Blind Spot Enlargement Syndrome" EXACT [] synonym: "Acute Macular Neuroretinopathy" EXACT [] synonym: "Acute Posterior Multifocal Placoid Pigment Epitheliopathy" EXACT [] synonym: "APMPPE" EXACT [] synonym: "Diffuse Subretinal Fibrosis Uveitis" EXACT [] synonym: "MEWDS" EXACT [] synonym: "Multiple Evanescent White Dot Syndrome" EXACT [] synonym: "Punctate Inner Choroidopathy" EXACT [] synonym: "Serpiginous Choroiditis" EXACT [] synonym: "Serpiginous Choroidopathy" EXACT [] synonym: "White Dot syndrome" EXACT [] xref: MESH:D000080363 is_a: DOID:12574 ! posterior uveitis created_by: mtutaj creation_date: 2020-01-30T12:13:08Z [Term] id: DOID:9003272 name: ENCEPHALITIS, ACUTE, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO, 11 def: "An autosomal recessive disorder characterized by increased susceptibility to viral encephalitis with neurotropic viruses, such as herpes simplex virus-1 (HSV-1), influenza B virus (IBV), or norovirus (NV), beginning in the first decade of life. Conferred by homozygous or compound heterozygous mutation in the DBR1 gene on chromosome 3q22. (OMIM)" [MIM:619441] synonym: "IIAE11" EXACT [] xref: MIM:619441 xref: MONDO:0030334 is_a: DOID:9588 ! encephalitis created_by: mtutaj creation_date: 2021-07-27T14:34:54Z [Term] id: DOID:9003273 name: Chromosome 8, Trisomy synonym: "Chromosome 8 duplication" EXACT [] synonym: "Trisomy 8" EXACT [] xref: MESH:C537942 xref: NCI:C36396 xref: RDO:0003864 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9003274 name: Fuchs Atrophia Gyrata Chorioideae et Retinae synonym: "Fuchs gyrate atrophy" EXACT [] synonym: "Fuchs gyrate atrophy of the choroid and retina" EXACT [] xref: MESH:C538071 xref: RDO:0004005 is_a: DOID:11555 ! Fuchs' endothelial dystrophy [Term] id: DOID:9003275 name: Hypokalemic Tubulopathy and Deafness def: "This disease is an autosomal recessive disorder characterized by hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeostasis, and sensorineural deafness." [MIM:619406] synonym: "HKTD" EXACT [] xref: MIM:619406 is_a: DOID:9006656 ! Familial Hypokalemia is_a: DOID:9008681 ! Deafness created_by: slaulede creation_date: 2021-08-23T17:03:40Z [Term] id: DOID:9003276 name: Spider Bites def: "The effects, both local and systemic, caused by the bites of SPIDERS." [MESH:D001098] synonym: "Arachnidism" EXACT [] synonym: "Necrotic Arachnidism" EXACT [] synonym: "Spider Bite" EXACT [] xref: MESH:D001098 is_a: DOID:9002550 ! Bites and Stings [Term] id: DOID:9003277 name: Sammartino De Crecchio Syndrome xref: MESH:C537229 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy [Term] id: DOID:9003278 name: Neoplasm, Residual def: "Remnant of a tumor or cancer after primary, potentially curative therapy. (Dr. Daniel Masys, written communication)" [MESH:D018365] synonym: "Minimal Residual Disease" EXACT [] synonym: "Minimal Residual Diseases" EXACT [] synonym: "Residual Cancer" EXACT [] synonym: "Residual Cancers" EXACT [] synonym: "Residual Neoplasms" EXACT [] synonym: "Residual Tumor" EXACT [] synonym: "Residual Tumors" EXACT [] xref: MESH:D018365 xref: RDO:0007194 is_a: DOID:9008192 ! Neoplastic Processes [Term] id: DOID:9003279 name: Joint Dislocations def: "Displacement of bones from their normal positions at a joint." [MESH:D004204] synonym: "Inferior Dislocation" EXACT [] synonym: "Inferior Dislocations" EXACT [] synonym: "Joint Dislocation" EXACT [] synonym: "Joint Subluxation" EXACT [] synonym: "Joint Subluxations" EXACT [] synonym: "Luxatio Erecta" EXACT [] xref: EFO:0009521 xref: MESH:D004204 xref: RDO:0001090 is_a: DOID:0080001 ! bone disease is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9003280 name: bradypnea def: "This disorder involves an abnormal decrease in the rate of breathing." [EFO:0009839] synonym: "Decreased Respiratory Rate" EXACT [] synonym: "Rate Of Respiration, Decreased" EXACT [] xref: EFO:0009839 is_a: DOID:9004659 ! Respiration Disorders created_by: slaulede creation_date: 2022-12-29T14:41:35Z [Term] id: DOID:9003281 name: Spontaneous Abortions def: "Expulsion of the product of FERTILIZATION before completing the term of GESTATION and without deliberate interference." [MESH:D000022] synonym: "miscarriage" EXACT [] synonym: "miscarriages" EXACT [] synonym: "spontaneous abortion" EXACT [] synonym: "tubal abortion" EXACT [] synonym: "tubal abortions" EXACT [] xref: EFO:1001255 xref: EFO:1001491 xref: MESH:D000022 is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9003282 name: Hyperproinsulinemia alt_id: MIM:616214 synonym: "hyperproinsulinemia, familial" NARROW [] synonym: "insulin chicago" RELATED [] synonym: "insulin los angeles" RELATED [] synonym: "insulin wakayama" RELATED [] synonym: "proinsulin kyoto" RELATED [] synonym: "proinsulin providence" RELATED [] xref: EFO:0009650 xref: MESH:C562776 xref: RDO:0012350 is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9003283 name: Transcobalamin I Deficiency alt_id: MIM:193090 synonym: "Cobalamin Pseudodeficiency due to Transcobalamin Deficiency" EXACT [] synonym: "Cobalamin R Binder Protein Deficiency" EXACT [] synonym: "R Binder Deficiency with Lactoferrin Deficiency" NARROW [] synonym: "TCN1 deficiency" EXACT [] synonym: "Transcobalamin I Deficiency with Lactoferrin Deficiency" NARROW [] xref: MESH:C562798 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9003284 name: HIV Seropositivity def: "Development of neutralizing antibodies in individuals who have been exposed to the human immunodeficiency virus (HIV/HTLV-III/LAV)." [MESH:D006679] synonym: "AIDS Seroconversion" EXACT [] synonym: "AIDS Seroconversions" EXACT [] synonym: "AIDS Seropositivities" EXACT [] synonym: "AIDS Seropositivity" EXACT [] synonym: "Anti-HIV Positivities" EXACT [] synonym: "Anti HIV Positivity" EXACT [] synonym: "HIV Antibody Positivities" EXACT [] synonym: "HIV Antibody Positivity" EXACT [] synonym: "HIV Seroconversion" EXACT [] synonym: "HIV Seroconversions" EXACT [] synonym: "HIV Seropositivities" EXACT [] synonym: "HTLV III Seroconversion" EXACT [] synonym: "HTLV-III Seroconversions" EXACT [] synonym: "HTLV-III Seropositivities" EXACT [] synonym: "HTLV III Seropositivity" EXACT [] xref: EFO:0004510 xref: MESH:D006679 is_a: DOID:526 ! human immunodeficiency virus infectious disease [Term] id: DOID:9003285 name: Odontotrichoungual-Digital-Palmar Syndrome alt_id: MIM:601957 synonym: "OTUDP Syndrome" EXACT [] xref: MESH:C566598 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9003286 name: Diplopia def: "A visual symptom in which a single object is perceived by the visual cortex as two objects rather than one. Disorders associated with this condition include REFRACTIVE ERRORS; STRABISMUS; OCULOMOTOR NERVE DISEASES; TROCHLEAR NERVE DISEASES; ABDUCENS NERVE DISEASES; and diseases of the BRAIN STEM and OCCIPITAL LOBE." [MESH:D004172] synonym: "Cortical Diplopia" EXACT [] synonym: "cortical diplopias" EXACT [] synonym: "Diplopias" EXACT [] synonym: "Double Vision" EXACT [] synonym: "Horizontal Diplopia" EXACT [] synonym: "Horizontal Diplopias" EXACT [] synonym: "Intermittent Diplopia" EXACT [] synonym: "Intermittent Diplopias" EXACT [] synonym: "Monocular Diplopia" EXACT [] synonym: "Monocular Diplopias" EXACT [] synonym: "Polyopsia" EXACT [] synonym: "Polyopsias" EXACT [] synonym: "Refractive Diplopia" EXACT [] synonym: "Refractive Diplopias" EXACT [] synonym: "Unilateral Diplopia" EXACT [] synonym: "Unilateral Diplopias" EXACT [] synonym: "Vertical Diplopia" EXACT [] synonym: "vertical diplopias" EXACT [] xref: MESH:D004172 is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:9003287 name: Body Weight Changes def: "A clinical manifestation consisting of alterations in an individual's weight from his or her norm." [MESH:D001836] synonym: "Body Weight Change" EXACT [] xref: MESH:D001836 is_a: DOID:9007633 ! Body Weight [Term] id: DOID:9003288 name: Lethal Congenital Contracture Syndrome 10 alt_id: RDO:9001624 synonym: "LCCS10" EXACT [] xref: MIM:617022 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:9003289 name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, SPASTICITY, AND COMPLETE OR PARTIAL AGENESIS OF THE CORPUS CALLOSUM def: "This disease is an autosomal recessive disorder characterized by axial hypotonia and global developmental delay apparent from the first days or months of life. Affected individuals develop early-onset seizures that tend to be well-controlled. Other features include peripheral spasticity with hyperreflexia, variable dysmorphic features, impaired intellectual development, behavioral abnormalities, and hypoplasia or absence of the corpus callosum on brain imaging." [MIM:620250] synonym: "NEDSSCC" EXACT [] xref: MIM:620250 is_a: DOID:1826 ! epilepsy is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2023-05-04T10:32:22Z [Term] id: DOID:9003290 name: Otofacioosseous-Gonadal Syndrome alt_id: MIM:601976 xref: MESH:C566597 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:11383 ! cryptorchidism is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003291 name: Aggressive Fibromatosis def: "A childhood counterpart of abdominal or extra-abdominal desmoid tumors, characterized by firm subcutaneous nodules that grow rapidly in any part of the body but do not metastasize. The adult form of abdominal fibromatosis is FIBROMATOSIS, ABDOMINAL. (Stedman, 25th ed)" [MESH:D018222] synonym: "Aggressive Fibromatoses" EXACT [] synonym: "Desmoid" EXACT [] synonym: "Desmoids" EXACT [] xref: MESH:D018222 is_a: DOID:0050871 ! fibroma [Term] id: DOID:9003292 name: Intracranial Subdural Hematoma def: "Accumulation of blood in the SUBDURAL SPACE over the CEREBRAL HEMISPHERE." [MESH:D046648] synonym: "cranial subdural hematoma" EXACT [] synonym: "intracranial subdural hematomas" EXACT [] synonym: "traumatic intracranial subdural hematoma" EXACT [] xref: EFO:1001801 xref: MESH:D046648 is_a: DOID:9001521 ! Subdural Hematoma [Term] id: DOID:9003293 name: Li-Campeau Syndrome def: "An autosomal recessive syndromic neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, dysmorphic facial features, hypothyroidism, and variable abnormalities of the cardiac and genital systems. Caused by homozygous or compound heterozygous mutation in the UBR7 gene on chromosome 19q32. (OMIM)" [] synonym: "LICAS" EXACT [] xref: MIM:619189 xref: NCI:C201589 is_a: DOID:1059 ! intellectual disability is_a: DOID:1459 ! hypothyroidism is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2021-02-19T10:22:11Z [Term] id: DOID:9003295 name: Heterotopic Ossification alt_id: RDO:0001319 def: "The development of bony substance in normally soft structures." [MESH:D009999] synonym: "Ectopic Ossification" EXACT [] synonym: "Pathological Ossification" EXACT [] synonym: "Pathologic Ossification" EXACT [] xref: MESH:D009999 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9003296 name: Chromosome 8, Trisomy 8p synonym: "Duplication 8p" EXACT [] synonym: "Trisomy 8p" EXACT [] xref: MESH:C538019 xref: RDO:0003953 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9003297 name: HLA Class 1 Deficiency xref: MESH:C538465 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:9003298 name: Glutathione Peroxidase Deficiency, Hemolytic Anemia possibly due to alt_id: MIM:614164 synonym: "GLUTATHIONE PEROXIDASE DEFICIENCY" EXACT [] synonym: "GPXD" EXACT [] xref: MESH:C564217 xref: RDO:0013254 is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:9003299 name: Short Limb Dwarfism Al Gazali Type alt_id: MIM:601356 synonym: "Lethal neonatal short limb dwarfism" EXACT [] synonym: "Lethal short-limb skeletal dysplasia, Al Gazali type" EXACT [] xref: MESH:C537598 is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9003300 name: Remitting Chorea with Nystagmus and Cataracts alt_id: MIM:601372 synonym: "Familial remitting chorea, nystagmus and cataracts" EXACT [] synonym: "remitting chorea with nystagmus and cataract" EXACT [] xref: MESH:C535355 is_a: DOID:12859 ! choreatic disease is_a: DOID:83 ! cataract [Term] id: DOID:9003301 name: Micromelic Dwarfism Fryns Type alt_id: MIM:601096 synonym: "micromelic dwarfism with cone epiphyses, metaphyseal dysplasia, and vertebral segmentation defects" EXACT [] synonym: "micromelic spondyloepimetaphyseal dysplasia" EXACT [] xref: MESH:C537556 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9003302 name: Monosomy 7 Myelodysplasia and Leukemia Syndrome 2 synonym: "M7MLS2" EXACT [] xref: MIM:619041 is_a: DOID:9009254 ! Monosomy 7 Myelodysplasia and Leukemia Syndrome created_by: mtutaj creation_date: 2020-12-11T14:58:24Z [Term] id: DOID:9003303 name: Meningism def: "A condition characterized by neck stiffness, headache, and other symptoms suggestive of meningeal irritation, but without actual inflammation of the meninges (MENINGITIS). Spinal fluid pressure may be elevated but spinal fluid is normal. (DeJong, The Neurologic Examination, 4th ed, p673)" [MESH:D008580] synonym: "Dupre's syndrome" EXACT [] synonym: "Dupres Syndrome" EXACT [] synonym: "Dupre Syndrome" EXACT [] synonym: "Meningisms" EXACT [] synonym: "Meningismus" EXACT [] synonym: "Meningitis Like Reaction" EXACT [] synonym: "Meningitis-Like Reactions" EXACT [] synonym: "Pseudomeningitides" EXACT [] synonym: "pseudomeningitis" EXACT [] xref: MESH:D008580 is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9003304 name: Kozlowski Rafinski Klicharska Syndrome synonym: "Metaphyseal and epiphyseal dysplasia with unusual facies and cataract" EXACT [] xref: MESH:C537509 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9003305 name: X-Linked Thrombophilia due to Factor VIII Defect def: "A disease associated with markedly elevated F8 levels and severe thrombophilia. Caused by mutation in the F8 gene on chromosome Xq28." [MIM:301071] synonym: "F8-RELATED CONDITION" BROAD [] synonym: "THPH13" EXACT [] xref: MIM:301071 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2452 ! thrombophilia created_by: mtutaj creation_date: 2022-02-28T19:29:59Z [Term] id: DOID:9003306 name: Hair Defect with Photosensitivity and Mental Retardation alt_id: MIM:234030 synonym: "Calderon Gonzalez-Cantu syndrome" EXACT [] synonym: "Kinky hair, photosensitivity, broken eyebrows and eyelashes, and nonprogressive mental retardation" EXACT [] xref: MESH:C537628 is_a: DOID:1059 ! intellectual disability is_a: DOID:1838 ! Menkes disease is_a: DOID:3159 ! photosensitivity disease [Term] id: DOID:9003307 name: Sex Chromosome Aberrations def: "Abnormal number or structure of the SEX CHROMOSOMES. Some sex chromosome aberrations are associated with SEX CHROMOSOME DISORDERS and SEX CHROMOSOME DISORDERS OF SEX DEVELOPMENT." [MESH:D012729] synonym: "Sex Chromosome Aberration" EXACT [] synonym: "Sex Chromosome Abnormalities" EXACT [] synonym: "Sex Chromosome Abnormality" EXACT [] xref: MESH:D012729 xref: RDO:0000144 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9003308 name: Congenital Hypomyelinating Neuropathy 3 def: "An autosomal recessive neurologic disorder characterized by onset of neurogenic muscle impairment in utero. Affected individuals present at birth with severe hypotonia, often causing respiratory insufficiency or failure and inability to swallow or feed properly. They have profoundly impaired psychomotor development. Sural nerve biopsy shows hypomyelination of the nerve fibers. Nerve conduction velocities are severely decreased (about 10 m/s) or absent due to improper myelination." [MIM:618186] synonym: "CHN3" EXACT [] xref: MIM:618186 is_a: DOID:9001527 ! Congenital Hypomyelinating Neuropathy created_by: slaulede creation_date: 2019-01-11T14:07:37Z [Term] id: DOID:9003309 name: Arm Injuries def: "General or unspecified injuries involving the UPPER ARM and the FOREARM." [MESH:D001134] synonym: "Arm Injury" EXACT [] xref: MESH:D001134 xref: RDO:0004905 is_a: DOID:9004073 ! limb injury [Term] id: DOID:9003310 name: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION def: "This disease is an autosomal recessive complex immunologic disorder characterized by both immunodeficiency and recurrent infections, often to viruses or mycobacteria, as well as by hyperinflammation with systemic involvement. Affected individuals present in infancy with variable features, including fever, infection, thrombocytopenia, renal or hepatic dysfunction, recurrent infections, or seizures. The disorder is thought to result from dysregulation of the interferon response to viral stimulation in the innate immune system." [MIM:619644] synonym: "IMD91" EXACT [] xref: MIM:619644 is_a: DOID:612 ! primary immunodeficiency disease created_by: slaulede creation_date: 2022-02-08T13:54:17Z [Term] id: DOID:9003311 name: Urinary Calculi def: "Low-density crystals or stones in any part of the URINARY TRACT. Their chemical compositions often include CALCIUM OXALATE, magnesium ammonium phosphate (struvite), CYSTINE, or URIC ACID." [MESH:D014545] synonym: "Urinary Calculus" EXACT [] synonym: "Urinary Stone" EXACT [] synonym: "Urinary Stones" EXACT [] synonym: "Urinary Tract Stone" EXACT [] synonym: "Urinary Tract Stones" EXACT [] xref: MESH:D014545 is_a: DOID:0080653 ! urolithiasis is_a: DOID:9005602 ! Calculi [Term] id: DOID:9003312 name: Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency alt_id: MIM:613839 synonym: "DHFR Deficiency" EXACT [] xref: MESH:C565095 is_a: DOID:13382 ! megaloblastic anemia [Term] id: DOID:9003313 name: Occipital Cortical Malformations alt_id: RDO:9000254 def: "A syndrome characterized by seizures, sometimes associated with transient visual changes." [] synonym: "OCCM" EXACT [] xref: MIM:614115 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome [Term] id: DOID:9003315 name: Lubs Syndrome synonym: "Pseudohermaphroditism, Incomplete Male, Type I" EXACT [] synonym: "Rosewater syndrome" EXACT [] synonym: "Type I familial incomplete male pseudohermaphroditism" EXACT [] xref: MESH:C538435 is_a: DOID:225 ! syndrome is_a: DOID:4674 ! androgen insensitivity syndrome [Term] id: DOID:9003316 name: Colloid Cysts def: "Benign, congenital, neuroepithelial cysts that are typically filled with a viscous mucus. They usually arise in the anterior portion of the THIRD VENTRICLE between the fornices." [MESH:D056364] synonym: "Colloid Cyst" EXACT [] xref: MESH:D056364 is_a: DOID:9003857 ! Central Nervous System Cysts [Term] id: DOID:9003317 name: Mitochondrial Form of Axonal Charcot-Marie-Tooth Disease 1 synonym: "CMTMA1" EXACT [] xref: MIM:500013 is_a: DOID:10595 ! Charcot-Marie-Tooth disease created_by: mtutaj creation_date: 2021-01-14T15:15:49Z [Term] id: DOID:9003318 name: Keratoconus 1 alt_id: MIM:148300 synonym: "KTCN1" EXACT [] synonym: "VSX1-RELATED CONDITION" BROAD [] xref: MESH:C563649 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9003319 name: Pronation-Supination Of The Forearm, Impairment Of alt_id: MIM:176800 xref: MESH:C566757 is_a: DOID:480 ! movement disease [Term] id: DOID:9003320 name: Myofibrillar Myopathy 12 def: "A severe autosomal recessive disorder affecting both skeletal and cardiac muscle tissue that is apparent in the first weeks of life. Caused by homozygous or compound heterozygous mutation in the MYL2 gene on chromosome 12q23. (OMIM)" [] synonym: "MFM12" EXACT [] synonym: "myofibrillar myopathy 12, infantile-onset, with cardiomyopathy" EXACT [] xref: MIM:619424 is_a: DOID:0080307 ! myofibrillar myopathy created_by: mtutaj creation_date: 2021-08-06T17:08:44Z [Term] id: DOID:9003321 name: Bacterial Keratitis def: "Bacterial infection of the cornea which can follow from an injury or from wearing contact lenses." [] xref: RDO:9000039 is_a: DOID:4677 ! keratitis is_a: DOID:9005473 ! Bacterial Eye Infections [Term] id: DOID:9003322 name: Familial Atrial Fibrillation 5 alt_id: MIM:611494 alt_id: RDO:0015140 synonym: "ATFB5" EXACT [] xref: MESH:C566932 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9003323 name: Multifocal Fibromuscular Dysplasia def: "Characterized histologically by medial fibroplasia and angiographically by multiple arterial stenoses with intervening mural dilations. Caused by heterozygous mutation in the COL5A1 gene on chromosome 9q34. (OMIM)" [] synonym: "COL5A1-RELATED CONDITION" BROAD [] synonym: "FMDMF" EXACT [] xref: MIM:619329 is_a: DOID:9003785 ! Fibromuscular Dysplasia created_by: mtutaj creation_date: 2021-05-19T11:56:39Z [Term] id: DOID:9003324 name: Dysfibrinogenemia Causing Recurrent Thrombosis xref: MESH:C565018 xref: RDO:0013776 is_a: DOID:0060903 ! thrombosis is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:9003325 name: Familial Enteropathy with Villous Edema and Immunoglobulin G2 Deficiency alt_id: MIM:600351 xref: MESH:C563949 is_a: DOID:10611 ! protein-losing enteropathy is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9000197 ! Edema [Term] id: DOID:9003326 name: Perrault Syndrome 1 alt_id: MIM:233400 synonym: "deficiency of 17-beta-hydroxysteroid dehydrogenase 4" EXACT [] synonym: "gonadal dysgenesis XX type deafness" EXACT [] synonym: "Gonadal dysgenesis, XX type, with deafness" EXACT [] synonym: "HSD17B4-RELATED CONDITION" BROAD [] synonym: "Ovarian dysgenesis with sensorineural deafness" EXACT [] synonym: "PRLTS1" EXACT [] xref: MESH:C537286 is_a: DOID:0050857 ! Perrault syndrome is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:14450 ! 46 XX gonadal dysgenesis [Term] id: DOID:9003328 name: Cobblestone Lissencephaly def: "The smooth pebbled appearance of the CEREBRAL CORTEX with a thickened cortex and reduced and abnormal white matter, which results from migration of heterotopic neurons beyond the marginal zone into the leptomeninges through gaps in the external BASEMENT MEMBRANE. There is also enlarged ventricles, underdeveloped BRAINSTEM and cerebellum, and absence of the CORPUS CALLOSUM. These abnormalities occur as a syndrome without other birth defects (cobblestone complex) or in other syndromes associated with congenital MUSCULAR DYSTROPHY, often involving the eye, such as the Walker-Warburg Syndrome, Fukuyama congenital muscular dystrophy, and muscle-eye-brain disease." [MESH:D054222] synonym: "Cobblestone Complex" EXACT [] synonym: "Cobblestone Dysplasia" EXACT [] synonym: "Cobblestone Dysplasias" EXACT [] synonym: "Cobblestone Lissencephalies" EXACT [] synonym: "Lissencephaly Type 2" EXACT [] xref: MESH:D054222 is_a: DOID:0050453 ! lissencephaly [Term] id: DOID:9003329 name: Tooth Attrition def: "The wearing away of a tooth as a result of tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces. It is chiefly associated with aging. It is differentiated from TOOTH ABRASION (the pathologic wearing away of the tooth substance by friction, as brushing, bruxism, clenching, and other mechanical causes) and from TOOTH EROSION (the loss of substance caused by chemical action without bacterial action). (Jablonski, Dictionary of Dentistry, 1992, p86)" [MESH:D019217] synonym: "Dental Attrition" EXACT [] synonym: "Dental Attritions" EXACT [] synonym: "Occlusal Wear" EXACT [] synonym: "Occlusal Wears" EXACT [] xref: MESH:D019217 is_a: DOID:9004104 ! Tooth Wear [Term] id: DOID:9003330 name: Papillary Thyroid Carcinoma, with Papillary Renal Neoplasia alt_id: MIM:605642 synonym: "PRN1" EXACT [] synonym: "PTCPRN" EXACT [] xref: MESH:C565310 is_a: DOID:3969 ! papillary thyroid carcinoma is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:9003331 name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 def: "A rare congenital defect of visceral smooth muscle, primarily affecting females who present at birth with functional obstruction of the intestine, microcolon, dilation of the bladder, and secondary hydronephrosis. Caused by mutation in the LMOD1 gene on chromosome 1q32. (OMIM)" [] synonym: "MMIHS3" EXACT [] xref: MIM:619362 is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome created_by: mtutaj creation_date: 2021-06-03T09:53:50Z [Term] id: DOID:9003332 name: Charcot-Marie-Tooth Disease Type 4A, Axonal Form alt_id: RDO:0004605 alt_id: RDO:0009131 synonym: "Charcot-Marie-Tooth Disease, Axonal, with Vocal Cord Paresis, Autosomal Recessive" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" EXACT [] synonym: "CHARCOT-MARIE-TOOTH WITH VOCAL CORD PARESIS" EXACT [] synonym: "CMT2 WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" EXACT [] synonym: "NEUROPATHY, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE" EXACT [] xref: MESH:C539595 xref: MIM:607706 is_a: DOID:0050541 ! Charcot-Marie-Tooth disease type 4 is_a: DOID:9000586 ! Vocal Cord Paralysis [Term] id: DOID:9003334 name: Syndactyly Type 6 def: "A rare, genetic, non-syndromic, congenital limb malformation disorder characterized by unilateral fusion of second to fifth fingers, amalgamation of distal phalanges in a knot-like structure, and second- and third-toe fusion. Some individuals present only with webbing between second and third toes, without involvement of fingers. (ORPHA)" [] synonym: "Mitten hand" EXACT [] synonym: "Syndactyly, mitten type" EXACT [] synonym: "Unilateral syndactyly of digits 2-5" EXACT [] xref: ORDO:295012 is_a: DOID:11193 ! syndactyly created_by: mtutaj creation_date: 2020-05-21T09:02:25Z [Term] id: DOID:9003335 name: HTLV-II Infections def: "Diseases caused by HUMAN T-LYMPHOTROPIC VIRUS 2." [MESH:D015491] synonym: "HTLV-II Infection" EXACT [] xref: EFO:1001349 xref: MESH:D015491 xref: RDO:0006892 is_a: DOID:9001509 ! Deltaretrovirus Infections [Term] id: DOID:9003336 name: Neonatal Zinc Deficiency due to Low Breast Milk Zinc alt_id: MIM:608118 synonym: "reduced zinc in breast milk" RELATED [] synonym: "TNZD" EXACT [] synonym: "transient neonatal zinc deficiency" EXACT [] xref: MESH:C564286 is_a: DOID:9003921 ! Zinc Deficiency is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9003337 name: Multilocular Encephalomalacia alt_id: MIM:225700 xref: MESH:C565597 is_a: DOID:2034 ! encephalomalacia [Term] id: DOID:9003338 name: Focal Infection def: "An infection at a specific location that may spread to another region of the body." [MESH:D005490] synonym: "Focal Infections" EXACT [] xref: MESH:D005490 xref: RDO:0005617 is_a: DOID:9004384 ! Bacterial Infections and Mycoses [Term] id: DOID:9003339 name: Radiculoneuropathy, Fatal Neonatal alt_id: MIM:266250 xref: MESH:C564857 is_a: DOID:4308 ! polyradiculoneuropathy [Term] id: DOID:9003340 name: Neonatal Alloimmune Thrombocytopenia def: "A condition in newborns caused by immunity of the mother to PLATELET ALLOANTIGENS on the fetal platelets. The PLATELETS, coated with maternal ANTIBODIES, are destroyed and removed by the fetal MONONUCLEAR PHAGOCYTE SYSTEM. Affected infants may have INTRACRANIAL HEMORRHAGES." [MESH:D054098] synonym: "BAK PLATELET-SPECIFIC ANTIGEN" RELATED [] synonym: "Ca/Tu Alloantigen Polymorphism" RELATED [] synonym: "FETAL AND NEONATAL ALLOIMMUNE THROMBOCYTOPENIA" EXACT [] synonym: "Mo Alloantigen Polymorphism" RELATED [] synonym: "NAIT" EXACT [] synonym: "Neonatal Alloimmune Thrombocytopenias" EXACT [] synonym: "Neonatal Thrombocytopenia" EXACT [] synonym: "Neonatal Thrombocytopenias" EXACT [] synonym: "PEN(a)/PEN(b) Alloantigen Polymorphism" RELATED [] xref: MESH:D054098 xref: NCI:C101200 is_a: DOID:1587 ! thrombocytopenia due to platelet alloimmunization is_a: DOID:1588 ! thrombocytopenia is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9003341 name: Vesicoureteral Reflux 7 alt_id: MIM:615390 synonym: "VUR7" EXACT [] is_a: DOID:9620 ! vesicoureteral reflux [Term] id: DOID:9003342 name: Microphthalmia, Cataracts, and Iris Abnormalities xref: MESH:C566448 xref: RDO:0014799 is_a: DOID:10629 ! microphthalmia is_a: DOID:12270 ! coloboma is_a: DOID:83 ! cataract [Term] id: DOID:9003343 name: Alpha-Thalassemia-2, Nondeletional def: "A disorder characterized by reduced synthesis of the alpha chains of hemoglobin, caused not by genetic deletions, but other types of alpha hemoglobin mutations." [] synonym: "Hemoglobin H Disease, Nondeletional" EXACT [] synonym: "HEMOGLOBIN PLASENCIA" RELATED [] is_a: DOID:9002652 ! Alpha-Thalassemia 2 [Term] id: DOID:9003344 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES def: "An autosomal recessive disorder characterized by moderate intellectual disability, relatively mild seizures, and neuropsychiatric abnormalities, such as anxiety, obsessive-compulsive behavior, and autistic features. (OMIM)" [] synonym: "IDDNPF" EXACT [] xref: MIM:617532 xref: RDO:9001746 is_a: DOID:1059 ! intellectual disability is_a: DOID:150 ! disease of mental health created_by: rgd creation_date: 2017-07-11T00:00:00Z [Term] id: DOID:9003345 name: Chromosome 12, Trisomy 12q synonym: "Duplication 12q" EXACT [] synonym: "Trisomy 12q" EXACT [] xref: MESH:C538300 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9003346 name: Distal Myopathy 7 def: "An X-linked recessive disorder affecting only males characterized by onset of distal muscle weakness predominantly affecting the lower limbs between 20 and 60 years of age. Caused by hemizygous mutation in the SMPX gene on chromosome Xp22." [MIM:301075] synonym: "MPD7" EXACT [] synonym: "X-linked adult-onset distal myopathy 7" EXACT [] xref: MIM:301075 is_a: DOID:11720 ! distal myopathy created_by: mtutaj creation_date: 2022-04-18T09:35:12Z [Term] id: DOID:9003347 name: Pediatric Ulcerative Colitis xref: MESH:C536315 is_a: DOID:8577 ! ulcerative colitis [Term] id: DOID:9003348 name: Congenital Generalized Lipodystrophy Type 5 def: "An autosomal recessive metabolic disorder characterized by childhood onset of lipodystrophy, severe nonalcoholic fatty liver disease, dyslipidemia, hypertriglyceridemia, low HDL, and insulin-resistant diabetes mellitus. Caused by compound heterozygous mutation in the PCYT1A gene on chromosome 3q29." [MIM:620680] synonym: "CGL5" EXACT [] xref: MIM:620680 is_a: DOID:0050585 ! congenital generalized lipodystrophy created_by: tutajm creation_date: 2024-01-19T10:49:33Z [Term] id: DOID:9003349 name: Rothmund-Thomson Syndrome Type 1 synonym: "poikiloderma atrophicans and cataract" EXACT [] synonym: "Rothmund-Thomson syndrome 1" EXACT [] synonym: "RTS1" EXACT [] xref: MIM:618625 is_a: DOID:2732 ! Rothmund-Thomson syndrome created_by: mtutaj creation_date: 2019-10-18T10:42:17Z [Term] id: DOID:9003350 name: Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly xref: MESH:C565817 xref: MIM:604211 xref: MONDO:0011410 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1682 ! congenital heart disease is_a: DOID:9005329 ! Preaxial Polydactyly is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003351 name: VDAC Deficiency xref: MESH:C565767 xref: RDO:0014317 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9003352 name: Yang Deficiency def: "In the YIN-YANG system of philosophy and medicine, a lack of vital energy (called yangxu in Chinese). It manifests itself in various systemic and organic diseases. (The Pinyin Chinese-English Dictionary, 1979)" [MESH:D016711] synonym: "Yang Hsu" EXACT [] synonym: "Yang Xu" EXACT [] synonym: "Yangxu" EXACT [] xref: EFO:0006817 xref: MESH:D016711 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9003353 name: Systemic Lupus Erythematosus 16 synonym: "SLEB16" EXACT [] xref: MIM:614420 is_a: DOID:9074 ! systemic lupus erythematosus [Term] id: DOID:9003354 name: Acropectorovertebral Dysplasia alt_id: MIM:102510 synonym: "Acropectorovertebral Dysplasia, F-Form" EXACT [] synonym: "ACRPV" EXACT [] synonym: "F syndrome" EXACT [] xref: GARD:512 xref: MESH:C566319 xref: MONDO:0007058 xref: ORDO:957 is_a: DOID:0060242 ! synpolydactyly [Term] id: DOID:9003355 name: Trochlear Nerve Injuries def: "Traumatic injuries to the TROCHLEAR NERVE." [MESH:D061247] synonym: "Cranial Nerve IV Injury" EXACT [] synonym: "Fourth Cranial Nerve Injuries" EXACT [] synonym: "Fourth Cranial Nerve Injury" EXACT [] synonym: "Fourth Nerve Trauma" EXACT [] synonym: "Fourth-Nerve Traumas" EXACT [] synonym: "Traumatic Fourth-Nerve Palsies" EXACT [] synonym: "Traumatic Fourth Nerve Palsy" EXACT [] synonym: "Traumatic Trochlear Neuropathies" EXACT [] synonym: "Traumatic Trochlear Neuropathy" EXACT [] synonym: "Trochlear Nerve Avulsion" EXACT [] synonym: "Trochlear Nerve Avulsions" EXACT [] synonym: "Trochlear Nerve Contusion" EXACT [] synonym: "Trochlear Nerve Contusions" EXACT [] synonym: "Trochlear Nerve Injury" EXACT [] synonym: "Trochlear Nerve Transection" EXACT [] synonym: "Trochlear Nerve Transections" EXACT [] synonym: "Trochlear Nerve Trauma" EXACT [] synonym: "Trochlear Nerve Traumas" EXACT [] xref: MESH:D061247 xref: RDO:0010065 is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9003356 name: Extrahepatic Portal Vein Obstruction def: "Obstruction by a blood clot (THROMBUS) or malignant obstruction of that part of the portal vein not surrounded by liver tissue." [] is_a: DOID:9007037 ! Portal Vein Obstruction created_by: rgd creation_date: 2016-06-03T00:00:00Z [Term] id: DOID:9003357 name: Heat Exhaustion def: "A clinical syndrome caused by heat stress, such as over-exertion in a hot environment or excessive exposure to sun. It is characterized by SWEATING, water (volume) depletion, salt depletion, cool clammy skin, NAUSEA, and HEADACHE." [MESH:D006359] synonym: "Heat Collapse" EXACT [] synonym: "Heat Prostration" EXACT [] xref: MESH:D006359 is_a: DOID:9001103 ! Heat Stress Disorders [Term] id: DOID:9003359 name: Chiari Malformation Type I with Syringomyelia synonym: "CM1 with Syringomyelia" EXACT [] xref: MESH:C566133 is_a: DOID:327 ! syringomyelia is_a: DOID:9001900 ! Arnold-Chiari Malformation [Term] id: DOID:9003360 name: Infectious Keratoconjunctivitis def: "Infectious diseases of cattle, sheep, and goats, characterized by blepharospasm, lacrimation, conjunctivitis, and varying degrees of corneal opacity and ulceration. In cattle the causative agent is MORAXELLA (MORAXELLA) BOVIS; in sheep, MYCOPLASMA; RICKETTSIA; CHLAMYDIA; or ACHOLEPLASMA; in goats, RICKETTSIA." [MESH:D007639] synonym: "Infectious Keratoconjunctivitides" EXACT [] xref: MESH:D007639 is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9005473 ! Bacterial Eye Infections is_a: DOID:9368 ! keratoconjunctivitis [Term] id: DOID:9003361 name: CORNEAL DYSTROPHY, PUNCTIFORM AND POLYCHROMATIC PRE-DESCEMET def: "This disease is characterized by the presence of tiny round multicolored opacities in the posterior stroma of the cornea, immediately anterior to the Descemet membrane." [MIM:619871] synonym: "PPPCD" EXACT [] synonym: "punctiform and polychromatic pre-Descemet corneal dystrophy" EXACT [] xref: MIM:619871 is_a: DOID:0060443 ! corneal endothelial dystrophy created_by: slaulede creation_date: 2022-06-13T14:38:08Z [Term] id: DOID:9003362 name: Aortopulmonary Septal Defect def: "A developmental abnormality in which the spiral (aortopulmonary) septum failed to completely divide the TRUNCUS ARTERIOSUS into ASCENDING AORTA and PULMONARY ARTERY. This abnormal communication between the two major vessels usually lies above their respective valves (AORTIC VALVE; PULMONARY VALVE)." [MESH:D001028] synonym: "Aorticopulmonary Septal Defect" EXACT [] synonym: "Aorticopulmonary Septal Defects" EXACT [] synonym: "Aortopulmonary Septal Defects" EXACT [] xref: MESH:D001028 xref: RDO:0004884 is_a: DOID:1681 ! heart septal defect [Term] id: DOID:9003363 name: Basilar Skull Fracture def: "Fractures which extend through the base of the SKULL, usually involving the PETROUS BONE. Battle's sign (characterized by skin discoloration due to extravasation of blood into the subcutaneous tissue behind the ear and over the mastoid process), CRANIAL NEUROPATHIES, TRAUMATIC; CAROTID-CAVERNOUS SINUS FISTULA; and CEREBROSPINAL FLUID OTORRHEA are relatively frequent sequelae of this condition. (Adams et al., Principles of Neurology, 6th ed, p876)" [MESH:D020205] synonym: "Basilar Skull Fractures" EXACT [] synonym: "Battle's Sign" EXACT [] synonym: "Battle Sign" EXACT [] synonym: "Battles Sign" EXACT [] synonym: "Frontobasilar Skull Fracture" EXACT [] synonym: "Frontobasilar Skull Fractures" EXACT [] synonym: "Skull Fracture, Basilar, Childhood" EXACT [] synonym: "Skull Fracture, Transphenoid Basilar" EXACT [] xref: MESH:D020205 is_a: DOID:9002209 ! Skull Fractures [Term] id: DOID:9003364 name: Benign Neonatal Epilepsy, 1, Atypical Severe alt_id: DOID:9008252 synonym: "Benign Familial Neonatal Convulsions 1, Atypical Severe" EXACT [] xref: MESH:C567745 xref: MESH:C567746 is_a: DOID:14777 ! benign familial neonatal epilepsy is_a: DOID:9006888 ! Benign Neonatal Epilepsy, 1 [Term] id: DOID:9003365 name: Usher Syndrome Type 1B alt_id: MIM:276900 synonym: "RETINITIS PIGMENTOSA AND CONGENITAL DEAFNESS" EXACT [] synonym: "USH1A" EXACT [] synonym: "USH1B" EXACT [] synonym: "Usher Syndrome Type IA" EXACT [] synonym: "Usher Syndrome Type IB" EXACT [] synonym: "USHER SYNDROME, TYPE I, FRENCH VARIETY" EXACT [] xref: MESH:C536485 xref: MESH:C564755 is_a: DOID:0110826 ! Usher syndrome type 1 [Term] id: DOID:9003366 name: Laryngopharyngeal Reflux def: "Back flow of gastric contents to the LARYNGOPHARYNX where it comes in contact with tissues of the upper aerodigestive tract. Laryngopharyngeal reflux is an extraesophageal manifestation of GASTROESOPHAGEAL REFLUX." [MESH:D057045] synonym: "Gastric Regurgitation" EXACT [] synonym: "Supraesophageal Gastric Reflux" EXACT [] synonym: "Supraesophageal Gastric Reflux (SEGR)" EXACT [] xref: EFO:1001355 xref: MESH:D057045 is_a: DOID:786 ! laryngeal disease is_a: DOID:8534 ! gastroesophageal reflux disease [Term] id: DOID:9003367 name: Growth Failure, Microcephaly, Mental Retardation, Cataracts, Large Joint Contractures, Osteoporosis, Cortical Dysplasia, and Cerebellar Atrophy alt_id: MIM:608278 xref: MESH:C564264 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:1059 ! intellectual disability is_a: DOID:11476 ! osteoporosis is_a: DOID:83 ! cataract is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006836 ! Contracture is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:9003369 name: Strongylida Infections def: "Infections with nematodes of the order STRONGYLIDA." [MESH:D017206] synonym: "Stephanurus dentatus Infection" EXACT [] synonym: "Stephanurus dentatus Infections" EXACT [] synonym: "Strongylida Infection" EXACT [] synonym: "Syngamiases" EXACT [] synonym: "Syngamiasis" EXACT [] xref: EFO:0007500 xref: MESH:D017206 is_a: DOID:9004401 ! Secernentea Infections [Term] id: DOID:9003370 name: Dyslipidemias def: "Abnormalities in the serum levels of LIPIDS, including overproduction or deficiency. Abnormal serum lipid profiles may include high total CHOLESTEROL, high TRIGLYCERIDES, low HIGH DENSITY LIPOPROTEIN CHOLESTEROL, and elevated LOW DENSITY LIPOPROTEIN CHOLESTEROL." [MESH:D050171] synonym: "Dyslipidemia" EXACT [] synonym: "Dyslipoproteinemia" EXACT [] synonym: "Dyslipoproteinemias" EXACT [] xref: MESH:D050171 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9003371 name: Cerebroretinal Microangiopathy with Calcifications and Cysts 1 synonym: "Cerebroretinal microangiopathy with calcifications and cysts 1" EXACT [] synonym: "CRMCC1" EXACT [] synonym: "CTC1-RELATED CONDITION" EXACT [] xref: MIM:612199 is_a: DOID:9003025 ! Cerebroretinal Microangiopathy with Calcifications and Cysts created_by: mtutaj creation_date: 2019-05-01T12:48:04Z [Term] id: DOID:9003372 name: LESSEL-KREIENKAMP SYNDROME def: "A neurodevelopmental disorder characterized by global developmental delay with intellectual disability and speech and language delay apparent from infancy or early childhood." [MIM:619149] synonym: "LESKRES" EXACT [] xref: MIM:619149 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2021-02-15T10:29:08Z [Term] id: DOID:9003373 name: Uterine Cervical Neoplasms alt_id: MIM:603956 def: "Tumors or cancer of the UTERINE CERVIX." [MESH:D002583] synonym: "cervical neoplasm" EXACT [] synonym: "cervical neoplasms" EXACT [] synonym: "cervix neoplasm" EXACT [] synonym: "cervix neoplasms" EXACT [] synonym: "neoplasm of uterine cervix" EXACT [] synonym: "tumor of the cervix uteri" EXACT [] synonym: "uterine cervical neoplasm" EXACT [] xref: MESH:D002583 is_a: DOID:2253 ! cervix disease is_a: DOID:9004268 ! Uterine Neoplasms [Term] id: DOID:9003374 name: Autosomal Recessive Cutis Laxa Type IIE def: "Characterized by connective tissue features, including generalized cutis laxa and inguinal hernia, craniofacial dysmorphology, variable mild heart defects, and prominent skeletal features, including craniosynostosis, short stature, brachydactyly, clinodactyly, and syndactyly. Caused by homozygous mutation in the LTBP1 gene on chromosome 2p22. (OMIM)" [] synonym: "ARCL2E" EXACT [] xref: MIM:619451 is_a: DOID:0070141 ! autosomal recessive cutis laxa type II classic type created_by: mtutaj creation_date: 2021-07-27T12:43:07Z [Term] id: DOID:9003375 name: Glutamyl Ribose-5-Phosphate Storage Disease alt_id: MIM:305920 synonym: "ADP-Ribose Protein Hydrolase Deficiency" EXACT [] xref: MESH:C564422 is_a: DOID:3211 ! lysosomal storage disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003377 name: Asymmetric Polymicrogyria alt_id: RDO:0015673 xref: MESH:C567658 is_a: DOID:0080918 ! polymicrogyria [Term] id: DOID:9003378 name: Congenital Hemolytic Anemia with Emphysema and Cutis Laxa synonym: "Cutis Laxa, Emphysema, and Hemolytic Anemia" EXACT [] xref: MESH:C562629 is_a: DOID:3144 ! cutis laxa is_a: DOID:589 ! congenital hemolytic anemia is_a: DOID:9002884 ! Emphysema [Term] id: DOID:9003379 name: Radiation Nephropathy def: "A kidney disease caused by iatrogenic or experimental insult of ionizing radiation to one or both kidneys." [] is_a: DOID:557 ! kidney disease is_a: DOID:9000111 ! Radiation Injuries created_by: rgd creation_date: 2017-06-28T00:00:00Z [Term] id: DOID:9003380 name: Pudendal Neuralgia def: "Pain associated with a damaged PUDENDAL NERVE. Clinical features may include positional pain with sitting in the perineal and genital areas, sexual dysfunction and FECAL INCONTINENCE and URINARY INCONTINENCE." [MESH:D060545] synonym: "Pudendal Canal Entrapment Syndrome" EXACT [] synonym: "Pudendal Nerve Entrapment" EXACT [] synonym: "Pudendal Nerve Entrapments" EXACT [] synonym: "Pudendal Nerve Entrapment Syndrome" EXACT [] synonym: "Pudendal Neuralgias" EXACT [] synonym: "Pudendal Neuropathies" EXACT [] synonym: "Pudendal Neuropathy" EXACT [] xref: MESH:D060545 xref: RDO:0010042 is_a: DOID:573 ! nerve compression syndrome is_a: DOID:9005968 ! Neuralgia [Term] id: DOID:9003381 name: Mental Retardation, Macrocephaly, Short Stature and Craniofacial Dysmorphism synonym: "Fryns Dereymaeker Haegeman syndrome" EXACT [] xref: MESH:C537453 is_a: DOID:1059 ! intellectual disability is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9003382 name: Diseases in Twins def: "Disorders affecting TWINS, one or both, at any age." [MESH:D004200] synonym: "Diseases in Twin" EXACT [] xref: MESH:D004200 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9003383 name: Bardet-Biedl Syndrome 1/2, Digenic xref: RDO:9001188 is_a: DOID:0110123 ! Bardet-Biedl syndrome 1 is_a: DOID:0110124 ! Bardet-Biedl syndrome 2 created_by: rgd creation_date: 2016-06-08T00:00:00Z [Term] id: DOID:9003384 name: Spinal Muscular Atrophy with Mental Retardation alt_id: MIM:271109 xref: MESH:C564807 is_a: DOID:1059 ! intellectual disability is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:9003385 name: Hairy Ears alt_id: MIM:139500 synonym: "Hypertrichosis Pinnae Auris" EXACT [] xref: MESH:C562484 is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9003386 name: Sunburn alt_id: DOID:9008294 alt_id: MIM:611742 def: "An injury to the skin causing erythema, tenderness, and sometimes blistering and resulting from excessive exposure to the sun. The reaction is produced by the ultraviolet radiation in sunlight." [MESH:D013471] synonym: "Shep9" RELATED [] synonym: "Skin/Hair/Eye Pigmentation, Variation In, 9" RELATED [] synonym: "Skin-Hair-Eye Pigmentation 9, Brown-Nonbrown Eyes" RELATED [] synonym: "Skin-Hair-Eye Pigmentation 9, Dark-Light Hair" RELATED [] synonym: "Skin-Hair-Eye Pigmentation 9, Freckling And Burning" RELATED [] synonym: "Skin-Hair-Eye Pigmentation 9, Red-Nonred Hair" RELATED [] synonym: "Sunburns" EXACT [] xref: EFO:0003958 xref: MESH:C567091 xref: MESH:D013471 is_a: DOID:3159 ! photosensitivity disease is_a: DOID:9007730 ! Burns [Term] id: DOID:9003388 name: ALFADHEL SYNDROME synonym: "AFDL" EXACT [] xref: MIM:620655 xref: MONDO:0958001 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2024-01-16T16:52:01Z [Term] id: DOID:9003389 name: Abnormal Karyotype def: "A variation from the normal set of chromosomes characteristic of a species." [MESH:D059786] synonym: "Abnormal Karyotypes" EXACT [] xref: MESH:D059786 xref: RDO:0009996 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9003390 name: Thrombocytopenia 2 synonym: "ANKRD26-RELATED CONDITION" EXACT [] synonym: "Helmerhorst Heaton Crossen syndrome" EXACT [] synonym: "THC2" EXACT [] synonym: "thrombocytopenia, autosomal dominant" EXACT [] synonym: "thrombocytopenia, autosomal dominant, 2" EXACT [] synonym: "Thrombocytopenia Chromosome Breakage" EXACT [] xref: MESH:C536519 xref: MIM:188000 xref: MONDO:0008555 xref: NCI:C129035 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:1588 ! thrombocytopenia is_a: DOID:9004203 ! Chromosome Breakage [Term] id: DOID:9003391 name: Hamano Tsukamoto Syndrome xref: MESH:C535625 is_a: DOID:0060160 ! childhood spinal muscular atrophy is_a: DOID:225 ! syndrome is_a: DOID:3213 ! demyelinating disease is_a: DOID:539 ! ophthalmoplegia [Term] id: DOID:9003392 name: Neck Pain def: "Discomfort or more intense forms of pain that are localized to the cervical region. This term generally refers to pain in the posterior or lateral regions of the neck." [MESH:D019547] synonym: "Anterior Cervical Pain" EXACT [] synonym: "Anterior Cervical Pains" EXACT [] synonym: "Anterior Neck Pain" EXACT [] synonym: "Anterior Neck Pains" EXACT [] synonym: "Cervicalgia" EXACT [] synonym: "Cervicalgias" EXACT [] synonym: "Cervical Pain" EXACT [] synonym: "Cervical Pains" EXACT [] synonym: "Cervicodynia" EXACT [] synonym: "Cervicodynias" EXACT [] synonym: "Neck Ache" EXACT [] synonym: "Neckache" EXACT [] synonym: "Neck Aches" EXACT [] synonym: "Neckaches" EXACT [] synonym: "Neck Pains" EXACT [] synonym: "Posterior Cervical Pain" EXACT [] synonym: "Posterior Cervical Pains" EXACT [] synonym: "Posterior Neck Pain" EXACT [] synonym: "Posterior Neck Pains" EXACT [] xref: MESH:D019547 is_a: DOID:9000641 ! Pain [Term] id: DOID:9003393 name: AIDS-Related Complex def: "A prodromal phase of infection with the human immunodeficiency virus (HIV). Laboratory criteria separating AIDS-related complex (ARC) from AIDS include elevated or hyperactive B-cell humoral immune responses, compared to depressed or normal antibody reactivity in AIDS; follicular or mixed hyperplasia in ARC lymph nodes, leading to lymphocyte degeneration and depletion more typical of AIDS; evolving succession of histopathological lesions such as localization of Kaposi's sarcoma, signaling the transition to the full-blown AIDS." [MESH:D000386] synonym: "ARC" EXACT [] synonym: "Lymphadenopathy Syndrome" EXACT [] synonym: "Lymphadenopathy Syndromes" EXACT [] xref: EFO:0007137 xref: MESH:D000386 xref: RDO:0004787 is_a: DOID:635 ! acquired immunodeficiency syndrome [Term] id: DOID:9003394 name: Unerupted Tooth def: "A normal developing tooth which has not yet perforated the oral mucosa or one that fails to erupt in the normal sequence or time interval expected for the type of tooth in a given gender, age, or population group." [MESH:D014097] synonym: "Unerupted Teeth" EXACT [] xref: MESH:D014097 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9003395 name: Type 2 Diabetes Mellitus 2 alt_id: MIM:601407 synonym: "NIDDM2" EXACT [] synonym: "noninsulin-dependent diabetes mellitus 2" EXACT [] synonym: "T2D2" EXACT [] xref: MESH:C563323 is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:9003396 name: Multiple Noduli Cutanei with Urinary Tract Abnormalities alt_id: MIM:163850 xref: MESH:C563512 is_a: DOID:11111 ! hydronephrosis is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9003397 name: Atrioventricular Septal Defect 5 synonym: "AVSD5" EXACT [] xref: MIM:614474 is_a: DOID:0050651 ! atrioventricular septal defect [Term] id: DOID:9003398 name: Focal Facial Dermal Dysplasia 3 synonym: "Bitemporal forceps marks syndrome" EXACT [] synonym: "Facial Ectodermal Dysplasia" EXACT [] synonym: "FFDD3" EXACT [] synonym: "Focal Facial Dermal Dysplasia 3, Setleis Type" EXACT [] synonym: "Focal facial dermal dysplasia type 2" EXACT [] synonym: "Focal Facial Dermal Dysplasia, Type II" EXACT [] synonym: "Setleis syndrome" EXACT [] xref: MIM:227260 is_a: DOID:9000745 ! Focal Facial Dermal Dysplasia [Term] id: DOID:9003399 name: Glyceraldehyde-3-Phosphate Dehydrogenase Deficiency xref: MESH:C536837 xref: RDO:0002536 is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:9003400 name: Keratoactinomycosis xref: MESH:C000598941 is_a: DOID:8463 ! corneal ulcer is_a: DOID:9938 ! dacryocystitis [Term] id: DOID:9003401 name: Hardikar Syndrome synonym: "cholestasis-pigmentary retinopathy-cleft palate syndrome" EXACT [] synonym: "HDKR" EXACT [] xref: MESH:C535632 xref: MIM:301068 xref: MONDO:0012997 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate [Term] id: DOID:9003402 name: Macrosomia Obesity Macrocephaly Ocular Abnormalities alt_id: MIM:157980 synonym: "Macrocrania, obesity, ocular abnormalities (retinal coloboma and nystagmus)" EXACT [] synonym: "Macrosomia, Obesity, Macrocephaly, And Ocular Abnormalities" EXACT [] synonym: "MOMO syndrome" EXACT [] xref: MESH:C535812 is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:9002427 ! Fetal Macrosomia is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9970 ! obesity [Term] id: DOID:9003403 name: Arterio-Arterial Fistula def: "Abnormal communication between two ARTERIES that may result from injury or occur as a congenital abnormality." [MESH:D001159] synonym: "Arterio-Arterial Fistulas" EXACT [] xref: EFO:1001270 xref: MESH:D001159 is_a: DOID:9003191 ! Vascular Malformations is_a: DOID:9004252 ! Vascular Fistula [Term] id: DOID:9003404 name: Bornholm Eye Disease alt_id: MIM:300843 synonym: "BED" EXACT [] synonym: "MYOPIA, HIGH, WITH NONPROGRESSIVE CONE DYSFUNCTION" EXACT [] xref: MESH:C564092 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11830 ! myopia [Term] id: DOID:9003405 name: Katsantoni Papadakou Lagoyanni Syndrome alt_id: RDO:0002758 synonym: "Trichodermal syndrome and mental retardation" EXACT [] xref: MESH:C537012 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease [Term] id: DOID:9003406 name: Isolated Hypoglossia alt_id: RDO:0015615 xref: MESH:C567568 is_a: DOID:9004659 ! Respiration Disorders is_a: DOID:9006733 ! Stomatognathic System Abnormalities [Term] id: DOID:9003408 name: Prepubertal Familial Idiopathic Edema alt_id: MIM:129840 xref: MESH:C565063 is_a: DOID:9000197 ! Edema [Term] id: DOID:9003409 name: Carotid-Cavernous Sinus Fistula def: "An acquired or spontaneous abnormality in which there is communication between CAVERNOUS SINUS, a venous structure, and the CAROTID ARTERIES. It is often associated with HEAD TRAUMA, specifically basilar skull fractures (SKULL FRACTURE, BASILAR). Clinical signs often include VISION DISORDERS and INTRACRANIAL HYPERTENSION." [MESH:D020216] synonym: "Carotid Artery Cavernous Sinus Fistula" EXACT [] synonym: "Carotid-Cavernous Sinus Fistulas" EXACT [] synonym: "C-C Fistula" EXACT [] synonym: "C-C Fistulas" EXACT [] synonym: "Traumatic Carotid Cavernous Sinus Fistula" EXACT [] xref: MESH:D020216 is_a: DOID:3407 ! carotid artery disease is_a: DOID:9005605 ! Arteriovenous Fistula is_a: DOID:9006182 ! Carotid Artery Injuries [Term] id: DOID:9003410 name: Novelty Seeking Personality Trait synonym: "RISK-TAKING BEHAVIOR" NARROW [] xref: MIM:601696 is_a: DOID:1510 ! personality disorder [Term] id: DOID:9003412 name: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 2 def: "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal, and distal mild limb defects.(OMIM)" [] synonym: "congenital NAD deficiency disorder 2" EXACT [] synonym: "KYNURENINASE DEFICIENCY, COMPLETE" EXACT [] synonym: "VCRL2" EXACT [] xref: MIM:617661 is_a: DOID:9008119 ! Vertebral, Cardiac, Renal, and Limb Defects Syndromes is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-12-11T00:00:00Z [Term] id: DOID:9003413 name: Corynebacterium Infections def: "Infections with bacteria of the genus CORYNEBACTERIUM." [MESH:D003354] synonym: "Corynebacterium Infection" EXACT [] xref: MESH:D003354 xref: RDO:0005284 is_a: DOID:9000673 ! Actinomycetales Infections [Term] id: DOID:9003415 name: Keratoconus 9 def: "A degenerative corneal disease with onset during adolescence, characterized by corneal ectasia, thinning, and cone-shaped protrusion that results in reduced vision (OMIM)." [] synonym: "KTCN9" EXACT [] xref: MIM:617928 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9003416 name: Post-Head Injury Coma def: "Prolonged unconsciousness from which the individual cannot be aroused, associated with traumatic injuries to the BRAIN. This may be defined as unconsciousness persisting for 6 hours or longer. Coma results from injury to both cerebral hemispheres or the RETICULAR FORMATION of the BRAIN STEM. Contributing mechanisms include DIFFUSE AXONAL INJURY and BRAIN EDEMA. (From J Neurotrauma 1997 Oct;14(10):699-713)" [MESH:D020207] synonym: "Coma, Post-Traumatic, Prolonged" EXACT [] synonym: "Post-Concussive Coma" EXACT [] synonym: "Post-Concussive Comas" EXACT [] synonym: "Post-Head Injury Comas" EXACT [] synonym: "Post-Trauma Coma" EXACT [] synonym: "Post-Trauma Comas" EXACT [] synonym: "Post-Traumatic Coma" EXACT [] synonym: "Traumatic Coma" EXACT [] xref: MESH:D020207 is_a: DOID:9006462 ! Coma is_a: DOID:9007621 ! Craniocerebral Trauma [Term] id: DOID:9003417 name: Menorrhagia def: "Excessive uterine bleeding during MENSTRUATION." [MESH:D008595] synonym: "Hypermenorrhea" EXACT [] xref: EFO:0003945 xref: MESH:D008595 is_a: DOID:9004918 ! Menstruation Disturbances is_a: DOID:9006889 ! Uterine Hemorrhage [Term] id: DOID:9003418 name: Lightning Injuries def: "Accidental injuries caused by brief high-voltage electrical discharges during thunderstorms. Cardiopulmonary arrest, coma and other neurologic symptoms, myocardial necrosis, and dermal burns are common. Prompt treatment of the acute sequelae, including cardiopulmonary resuscitation, is indicated for survival." [MESH:D015168] synonym: "Lightning Injury" EXACT [] synonym: "Lightning Stroke" EXACT [] synonym: "Lightning Strokes" EXACT [] xref: MESH:D015168 xref: RDO:0006847 is_a: DOID:9001588 ! Electric Injuries [Term] id: DOID:9003419 name: Childhood-Onset Fluency Disorder def: "Disturbances in the normal fluency and time patterning of speech that are inappropriate for the individual's age and language skills. (DSM-V)" [MESH:D000067454] synonym: "Childhood-Onset Fluency Disorders" EXACT [] xref: MESH:D000067454 xref: RDO:0016028 is_a: DOID:2033 ! communication disorder [Term] id: DOID:9003420 name: Carbon Monoxide Poisoning def: "Toxic asphyxiation due to the displacement of oxygen from oxyhemoglobin by carbon monoxide." [MESH:D002249] synonym: "Carbon Monoxide Poisonings" EXACT [] synonym: "Illuminating Gas Poisoning" EXACT [] synonym: "Illuminating Gas Poisonings" EXACT [] xref: MESH:D002249 xref: RDO:0005106 is_a: DOID:9004169 ! Gas Poisoning [Term] id: DOID:9003421 name: Labor Pain def: "Pain associated with OBSTETRIC LABOR in CHILDBIRTH. It is caused primarily by UTERINE CONTRACTION as well as pressure on the CERVIX; BLADDER; and the GASTROINTESTINAL TRACT. Labor pain mostly occurs in the ABDOMEN; the GROIN; and the BACK." [MESH:D048949] synonym: "Obstetric Pain" EXACT [] xref: MESH:D048949 is_a: DOID:9000641 ! Pain [Term] id: DOID:9003422 name: Thyroid Cancer, Nonmedullary, 4 synonym: "NMTC4" EXACT [] xref: MIM:616534 is_a: DOID:3969 ! papillary thyroid carcinoma [Term] id: DOID:9003423 name: Upton Young Syndrome synonym: "Mental retardation and multiple nevi" EXACT [] synonym: "Severe developmental delay and multiple strawberry naevi" EXACT [] xref: MESH:C536473 xref: RDO:0002066 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease [Term] id: DOID:9003424 name: Opioid-Induced Constipation def: "CONSTIPATION associated with the use of OPIOIDS." [MESH:D000079689] synonym: "Narcotic Bowel Syndrome" EXACT [] xref: MESH:D000079689 is_a: DOID:9001581 ! Constipation is_a: DOID:9004719 ! Narcotic-Related Disorders created_by: slaulede creation_date: 2020-02-06T18:44:18Z [Term] id: DOID:9003425 name: NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS def: "A disease characterized by developmental delay and/or intellectual disability; corpus callosum hypoplasia or agenesis; facial dysmorphism, including upslanting palpebral fissures, broad nasal tip, and wide mouth; and skeletal abnormalities, including short stature, scoliosis, and flexion contractures, with broad fingertips and/or toes." [MIM:619194] synonym: "NEURODEVELOPMENTAL DISORDER WITH CORPUS CALLOSUM AGENESIS, CRANIOFACIAL DYSMORPHISM, AND SKELETAL ANOMALIES, WITH OR WITHOUT RENAL AGENESIS" EXACT [] synonym: "NEUROFACIOSKELETAL SYNDROME WITH OR WITHOUT RENAL AGENESIS" EXACT [] synonym: "NFSRA" EXACT [] xref: MIM:619194 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: slaulede creation_date: 2021-03-15T13:52:31Z [Term] id: DOID:9003426 name: Glycosuria def: "The appearance of an abnormally large amount of GLUCOSE in the urine, such as more than 500 mg/day in adults. It can be due to HYPERGLYCEMIA or genetic defects in renal reabsorption (RENAL GLYCOSURIA)." [MESH:D006029] synonym: "glucosuria" EXACT [] xref: MESH:D006029 is_a: DOID:4194 ! glucose metabolism disease is_a: DOID:9003919 ! Urination Disorders [Term] id: DOID:9003427 name: Periprosthetic Fractures def: "Fractures around joint replacement prosthetics or implants. They can occur intraoperatively or postoperatively." [MESH:D057068] synonym: "Peri-Implant Fracture" EXACT [] synonym: "Peri Implant Fractures" EXACT [] synonym: "Periprosthetic Fracture" EXACT [] xref: EFO:1001823 xref: MESH:D057068 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9003429 name: Dementia/Parkinsonism with Non-Alzheimer Amyloid Plaques alt_id: MIM:125320 xref: MESH:C565115 is_a: DOID:0080855 ! Parkinsonism is_a: DOID:1307 ! dementia is_a: DOID:9005832 ! Amyloid Plaques [Term] id: DOID:9003430 name: Sprengel Deformity alt_id: MIM:184400 synonym: "High scapula" EXACT [] synonym: "Maladie de Sprengel familiale" EXACT [] synonym: "Sprengel's shoulder" EXACT [] xref: MESH:C535802 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9003431 name: Junctional Epidermolysis Bullosa 5A, Intermediate synonym: "intermediate junctional epidermolysis bullosa 5A" EXACT [] synonym: "ITGB4-RELATED CONDITION" BROAD [] synonym: "JEB5A" EXACT [] synonym: "Junctional Epidermolysis Bullosa 5A, Generalized Intermediate" EXACT [] synonym: "Junctional Epidermolysis Bullosa 5A, Intermediate" EXACT [] synonym: "Junctional Epidermolysis Bullosa 5A, Non-Herlitz Type" EXACT [] xref: MIM:619816 is_a: DOID:0060738 ! junctional epidermolysis bullosa non-Herlitz type created_by: mtutaj creation_date: 2022-06-07T11:35:29Z [Term] id: DOID:9003432 name: Calloso-Genital Dysplasia synonym: "Primary amenorrhoea with coloboma and total agenesis of the corpus callosum" EXACT [] xref: GARD:1055 xref: MESH:C537962 is_a: DOID:12270 ! coloboma is_a: DOID:13938 ! amenorrhea is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:9003433 name: Hemifacial Hyperplasia with Strabismus alt_id: MIM:141350 synonym: "Bencze Syndrome" EXACT [] xref: MESH:C564199 is_a: DOID:10376 ! amblyopia is_a: DOID:540 ! strabismus is_a: DOID:9008797 ! Facial Asymmetry [Term] id: DOID:9003434 name: Congenital Disorder of Glycosylation with Defective Fucosylation 1 synonym: "CDGF1" EXACT [] xref: MIM:618005 is_a: DOID:9001022 ! Congenital Disorder of Glycosylation with Defective Fucosylation created_by: mtutaj creation_date: 2019-03-15T12:14:04Z [Term] id: DOID:9003436 name: CRYPTOZOOSPERMIA def: "A type of low sperm count where ejaculated semen contains less than 100,000 spermatozoa per ml. With cryptozoospermia, the sperm count may fluctuate and a zero sperm count in the ejaculate may be initially measured. If sperm are observed in a second semen sample following centrifugation, the diagnosis of cryptozoospermia can be made and azoospermia can be ruled out." [] synonym: "Cryptospermia" EXACT [] is_a: DOID:14228 ! oligospermia created_by: slaulede creation_date: 2020-01-09T12:48:55Z [Term] id: DOID:9003437 name: Tibia Absent Polydactyly Arachnoid Cyst xref: MESH:C536918 xref: RDO:0002643 is_a: DOID:1148 ! polydactyly is_a: DOID:9007612 ! Arachnoid Cysts [Term] id: DOID:9003438 name: Branchial Cleft Anomalies alt_id: MIM:113600 xref: MESH:C562384 is_a: DOID:9004130 ! Pharyngeal Diseases is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003439 name: Spinal Osteophytosis def: "Outgrowth of immature bony processes or bone spurs (OSTEOPHYTE) from the VERTEBRAE, reflecting the presence of degenerative disease and calcification. It commonly occurs in cervical and lumbar SPONDYLOSIS." [MESH:D013128] synonym: "Spinal Osteophytoses" EXACT [] xref: EFO:1001846 xref: MESH:D013128 xref: RDO:0005367 is_a: DOID:0060564 ! spinal disease [Term] id: DOID:9003441 name: Nephrotic Syndrome Type 24 def: "An autosomal recessive renal disorder characterized by onset of proteinuria and hypoalbuminemia in early childhood, although onset in the second decade has been reported. Caused by homozygous or compound heterozygous mutation in the DAAM2 gene on chromosome 6p21. (OMIM)" [] synonym: "DAAM2-RELATED CONDITION" EXACT [] synonym: "NPHS24" EXACT [] xref: MIM:619263 is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2021-04-13T13:26:31Z [Term] id: DOID:9003442 name: Konigsmark Knox Hussels Syndrome synonym: "Deafness optic atrophy syndrome" EXACT [] synonym: "Dominant congenital deafness and progressive optic nerve atrophy" EXACT [] xref: MESH:C537214 xref: RDO:0003004 is_a: DOID:225 ! syndrome is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9008681 ! Deafness [Term] id: DOID:9003443 name: Central Nervous System Vascular Malformations def: "Congenital, inherited, or acquired abnormalities involving ARTERIES; VEINS; or venous sinuses in the BRAIN; SPINAL CORD; and MENINGES." [MESH:D020785] synonym: "Brain Capillary Telangiectasia" EXACT [] synonym: "Brain Capillary Telangiectasias" EXACT [] synonym: "Brain Vascular Malformation" EXACT [] synonym: "Brain Vascular Malformations" EXACT [] synonym: "Central Nervous System Congenital Vascular Malformations" EXACT [] synonym: "Central Nervous System Vascular Anomalies" EXACT [] synonym: "Congenital Vascular Malformations, Central Nevous System" EXACT [] synonym: "Dural Arteriovenous Fistula" EXACT [] synonym: "Dural Arteriovenous Fistulas" EXACT [] synonym: "Persistent Cerebral Embryonic Artery" EXACT [] synonym: "Pontine Capillary Telangiectasia" EXACT [] synonym: "Pontine Capillary Telangiectasias" EXACT [] synonym: "Vascular Malformations, Congenital, Nervous System" EXACT [] xref: MESH:D020785 xref: RDO:0005161 is_a: DOID:9003191 ! Vascular Malformations is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:9003446 name: Homozygous 11p15-p14 Deletion Syndrome alt_id: MIM:606528 synonym: "infantile hyperinsulinism with enteropathy and deafness" EXACT [] xref: MESH:C564701 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2018 ! hyperinsulinism is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9003447 name: Oxyurida Infections def: "Infections with nematodes of the order OXYURIDA." [MESH:D017194] synonym: "Oxyurida Infection" EXACT [] xref: MESH:D017194 is_a: DOID:9004401 ! Secernentea Infections [Term] id: DOID:9003448 name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, CATARACTS, AND CEREBELLAR HYPOPLASIA def: "This disease is an autosomal recessive disorder characterized by global developmental delay with variably impaired intellectual development. Common features include axial hypotonia, peripheral spasticity, dystonia, cataracts, and seizures." [MIM:619286] synonym: "NEDSCAC" EXACT [] xref: MIM:619286 is_a: DOID:0070338 ! cerebellar hypoplasia is_a: DOID:83 ! cataract is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2021-05-14T10:59:32Z [Term] id: DOID:9003449 name: Deafness, Congenital Onychodystrophy, Recessive Form synonym: "Deafness, Onycho-Osteodystrophy, mental Retardation syndrome" EXACT [] xref: MESH:C538204 xref: RDO:0004147 is_a: DOID:1059 ! intellectual disability is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9003450 name: Nonprogressive Heart Block alt_id: RDO:0014620 xref: MESH:C566185 is_a: DOID:9003163 ! Heart Block [Term] id: DOID:9003451 name: Multiple mitochondrial dysfunctions syndrome 9A def: "An autosomal recessive neurologic disorder characterized by onset of visual and hearing impairment in the first or second decades. (OMIM)" [] synonym: "ANOA" EXACT [] synonym: "Auditory neuropathy and optic atrophy" EXACT [] synonym: "FDXR-RELATED CONDITION" EXACT [] synonym: "MMDS9A" EXACT [] xref: MIM:617717 xref: MONDO:0060582 is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome is_a: DOID:9001890 ! Auditory Neuropathy is_a: DOID:9005850 ! Hereditary Optic Atrophies created_by: rgd creation_date: 2017-11-30T00:00:00Z [Term] id: DOID:9003452 name: Prostate Cancer, Hereditary, 9 synonym: "HPC9" EXACT [] xref: MESH:C567031 xref: MIM:610997 xref: MONDO:0012597 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9003453 name: Mitochondrial DNA Depletion Syndrome, Hepatocerebral Form, Autosomal Recessive alt_id: RDO:0015645 xref: MESH:C567608 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0070329 ! mitochondrial DNA depletion syndrome is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:9003454 name: Scholte Syndrome alt_id: MIM:300977 synonym: "Early balding, patella luxation, acromicria and hypogonadism" EXACT [] xref: MESH:C536638 is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:987 ! alopecia [Term] id: DOID:9003455 name: Teebi Shaltout Syndrome alt_id: MIM:272950 synonym: "Craniofacial anomalies, abnormal hair, camptodactyly, and caudal appendage" EXACT [] xref: MESH:C536950 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003456 name: Insulin-Like Growth Factor I, Resistance to, due to Increased Binding Protein xref: MESH:C564817 is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9003459 name: Odontochondrodysplasia 1 alt_id: MIM:184260 synonym: "Goldblatt syndrome" EXACT [] synonym: "ODCD1" EXACT [] synonym: "spondylometaphyseal dysplasia with dentinogenesis imperfecta" EXACT [] xref: MESH:C535792 is_a: DOID:9003789 ! Odontochondrodysplasia [Term] id: DOID:9003460 name: Fraser-Like Syndrome alt_id: MIM:229230 synonym: "fused eyelids, airway anomalies, ovarian cysts, and digital anomalies" EXACT [] xref: MESH:C565562 is_a: DOID:225 ! syndrome is_a: DOID:5119 ! ovarian cyst is_a: DOID:9007870 ! Respiratory System Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003461 name: Mirror Movements 2 alt_id: RDO:9000515 synonym: "MRMV2" EXACT [] xref: MIM:614508 is_a: DOID:0111153 ! congenital mirror movement disorder is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9003462 name: Chromosome 2, Trisomy 2p synonym: "Duplication 2p" EXACT [] synonym: "Trisomy 2p" EXACT [] xref: MESH:C538318 xref: RDO:0004280 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9003463 name: Gingival Fibromatosis 2 alt_id: MIM:605544 synonym: "Fibromatosis, Gingival, Hereditary, 2" EXACT [] synonym: "GGF2" EXACT [] synonym: "GINGF2" EXACT [] synonym: "HGF2" EXACT [] xref: MESH:C565323 is_a: DOID:0060466 ! gingival fibromatosis [Term] id: DOID:9003464 name: Congenital Dysfibrinogenemia def: "A hereditary, usually autosomal dominant disorder that affects the quality of circulating FIBRINOGEN. About half of patients are asymptomatic, and half have an increased tendency for bleeding, THROMBOSIS, or both." [MESH:C562727] synonym: "DYSFIBRINOGENEMIA" BROAD [] synonym: "FIBRINOGEN AARHUS 1" RELATED [] synonym: "FIBRINOGEN ASAHI" RELATED [] synonym: "FIBRINOGEN BALTIMORE 3" RELATED [] synonym: "FIBRINOGEN BALTIMORE 4" RELATED [] synonym: "FIBRINOGEN BERGAMO 2" RELATED [] synonym: "FIBRINOGEN CARACAS 2" RELATED [] synonym: "FIBRINOGEN CARACAS II" RELATED [] synonym: "FIBRINOGEN PETOSKEY" RELATED [] xref: MESH:C562727 xref: MIM:616004 xref: MONDO:0014452 is_a: DOID:2236 ! congenital afibrinogenemia [Term] id: DOID:9003465 name: Daneman Davy Mancer Syndrome alt_id: MIM:138790 synonym: "Multinodular goiter, cystic renal disease, and digital anomalies" EXACT [] synonym: "Multinodular Goiter-Cystic Renal Disease-Digital Anomalies" EXACT [] xref: MESH:C535986 is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:13197 ! nodular goiter is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9003466 name: Cardiomyopathy Hypogonadism Collagenoma Syndrome xref: MESH:C535582 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:854 ! collagen disease is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9003467 name: Retinitis Pigmentosa 92 def: "Characterized by relatively mild disease, with onset of night blindness and vision loss in the third to sixth decades of life. Caused by homozygous mutation in the HKDC1 gene on chromosome 10q22." [MIM:619614] synonym: "RP92" EXACT [] xref: MIM:619614 is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2021-11-15T12:28:12Z [Term] id: DOID:9003468 name: Apolipoprotein E, Deficiency or Defect of alt_id: RDO:0014662 xref: MESH:C566260 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9003469 name: Ichthyosis and Male Hypogonadism alt_id: MIM:308200 synonym: "Ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation" EXACT [] synonym: "RUDS" NARROW [] synonym: "RUD SYNDROME" NARROW [] xref: MESH:C537365 is_a: DOID:1059 ! intellectual disability is_a: DOID:11383 ! cryptorchidism is_a: DOID:1700 ! X-linked ichthyosis is_a: DOID:1924 ! hypogonadism [Term] id: DOID:9003470 name: Picornaviridae Infections def: "Virus diseases caused by the PICORNAVIRIDAE." [MESH:D010850] synonym: "Picornaviridae Infection" EXACT [] synonym: "Picornavirus Infection" EXACT [] synonym: "Picornavirus Infections" EXACT [] xref: EFO:0007438 xref: MESH:D010850 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9003471 name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 synonym: "ANE" EXACT [] synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, 3, SUCEPTIBILITY TO" EXACT [] synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3" EXACT [] synonym: "ENCEPHALOPATHY, ACUTE NECROTIZING, SUSCEPTIBILITY TO" EXACT [] synonym: "IIAE3" EXACT [] xref: MIM:608033 is_a: DOID:936 ! brain disease [Term] id: DOID:9003472 name: Defect of Tricarboxylic Acid Cycle xref: MESH:C564762 xref: MIM:275370 xref: MONDO:0010151 is_a: DOID:3650 ! lactic acidosis is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:9003473 name: Familial Hypercholanemia 2 synonym: "FHCA2" EXACT [] synonym: "NTCP deficiency" EXACT [] synonym: "SLC10A1-RELATED CONDITION" EXACT [] xref: MIM:619256 is_a: DOID:9007118 ! Familial Hypercholanemia created_by: mtutaj creation_date: 2021-04-13T11:54:41Z [Term] id: DOID:9003474 name: Aniridia and Absent Patella alt_id: MIM:106220 xref: MESH:C566281 is_a: DOID:12271 ! aniridia [Term] id: DOID:9003475 name: Hypocalciuric Hypercalcemia, Acquired alt_id: RDO:0013202 xref: MESH:C564151 is_a: DOID:12678 ! hypercalcemia [Term] id: DOID:9003476 name: Radiation-Induced Abnormalities def: "Congenital changes in the morphology of organs produced by exposure to ionizing or non-ionizing radiation." [MESH:D000016] synonym: "Radiation-Induced Abnormality" EXACT [] xref: MESH:D000016 is_a: DOID:9000111 ! Radiation Injuries is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9003477 name: Kleeblattschaedel Syndrome alt_id: MIM:148800 synonym: "Cloverleaf skull syndrome" EXACT [] synonym: "Kleeblattschaedel-deformity syndrome" EXACT [] xref: MESH:C536884 is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9003478 name: Metachromatic Leukodystrophy, Adult-Onset, with Normal Arylsulfatase A alt_id: MIM:156310 xref: MESH:C563587 is_a: DOID:10581 ! metachromatic leukodystrophy [Term] id: DOID:9003479 name: Proportionate Dwarfism with Hip Dislocation alt_id: MIM:223550 xref: MESH:C565614 is_a: DOID:9005560 ! Congenital Hip Dislocation is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9003480 name: Spastic Paraplegia, Ataxia, and Mental Retardation alt_id: MIM:607565 xref: MESH:C564378 is_a: DOID:1059 ! intellectual disability is_a: DOID:607 ! paraplegia is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9003481 name: Inhalant Abuse def: "Illicit use of chemicals and products whose vapors can be inhaled to produce a rapid mind-altering effect. Inhalants include aerosols, gases, and volatile solvents that are often inhaled repeatedly to achieve the short-lived intoxicating effect." [MESH:D058545] synonym: "Glue Abuse" EXACT [] synonym: "Glue Abuses" EXACT [] synonym: "Glue Sniffing" EXACT [] synonym: "Glue Sniffings" EXACT [] synonym: "Inhalant Abuses" EXACT [] xref: MESH:D058545 is_a: DOID:303 ! substance-related disorder [Term] id: DOID:9003482 name: Seckel Syndrome 3 xref: MESH:C563881 is_a: DOID:0050569 ! Seckel syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9001487 ! Facies is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9003483 name: Conductive Hearing Loss alt_id: RDO:0000754 def: "Hearing loss due to interference with the mechanical reception or amplification of sound to the COCHLEA. The interference is in the outer or middle ear involving the EAR CANAL; TYMPANIC MEMBRANE; or EAR OSSICLES." [MESH:D006314] xref: MESH:D006314 is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9003484 name: Atrial Tachycardia def: "This disorder is characterized by an electrocardiographic finding of an organized, regular atrial rhythm with atrial rate between 101 and 240 beats per minute. The P wave morphology must be distinct from the sinus P wave morphology." [NCI:C35481] xref: EFO:0005308 xref: ICD9:427.89 xref: MONDO:0005479 xref: NCI:C35481 is_a: DOID:9000006 ! Supraventricular Tachycardia created_by: slaulede creation_date: 2022-12-29T16:17:24Z [Term] id: DOID:9003487 name: Breastfeeding Jaundice xref: MESH:C565501 is_a: DOID:2383 ! neonatal jaundice [Term] id: DOID:9003488 name: Postaxial Polydactyly, Type A1 alt_id: MIM:174200 alt_id: RDO:0012159 synonym: "GLI3-RELATED POSTAXIAL POLYDACTYLY" EXACT [] synonym: "PAPA" EXACT [] synonym: "PAPA1" EXACT [] synonym: "PAPB" NARROW [] synonym: "Postaxial Polydactyly B" EXACT [] synonym: "Postaxial Polydactyly, Type A" EXACT [] synonym: "Postaxial Polydactyly, Type A1/B" EXACT [] synonym: "Postaxial Polydactyly, Type B" EXACT [] xref: MESH:C562429 is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9003489 name: Blepharophimosis Syndrome Type 1 synonym: "blepharophimosis, ptosis, and epicanthus inversus type I" EXACT [] synonym: "blepharophimosis, ptosis, and epicanthus inversus type I, autosomal recessive" EXACT [] synonym: "blepharophimosis, ptosis, epicanthus inversus type 1" EXACT [] synonym: "blepharophimosis, ptosis, epicanthus inversus with ovarian failure" EXACT [] synonym: "BPES, type I" EXACT [] synonym: "BPES, type I, autosomal recessive" EXACT [] synonym: "BPES with ovarian failure" EXACT [] xref: MESH:C536233 is_a: DOID:10787 ! premature menopause is_a: DOID:14778 ! blepharophimosis, ptosis, and epicanthus inversus syndrome [Term] id: DOID:9003490 name: Myopia 22, Autosomal Dominant synonym: "MYP22" EXACT [] xref: MIM:615420 xref: RDO:9000944 is_a: DOID:11830 ! myopia [Term] id: DOID:9003491 name: Enterobacteriaceae Infections def: "Infections with bacteria of the family ENTEROBACTERIACEAE." [MESH:D004756] synonym: "Enterobacteriaceae Infection" EXACT [] synonym: "Enterobacterial Infection" EXACT [] synonym: "Enterobacterial Infections" EXACT [] xref: EFO:1001313 xref: MESH:D004756 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9003492 name: Oocyte/Zygote/Embryo Maturation Arrest 12 def: "Characterized by female infertility due to early embryonic arrest. Caused by homozygous mutation in the FBXO43 gene on chromosome 8q22." [MIM:619697] synonym: "Oocyte Maturation Defect 12" EXACT [] synonym: "OOMD12" EXACT [] synonym: "OZEMA12" EXACT [] xref: MIM:619697 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2022-01-07T11:41:18Z [Term] id: DOID:9003493 name: primary pulmonary hypertension 2 synonym: "PPH2" EXACT [] synonym: "Primary Pulmonary Hypertension, 2" EXACT [] xref: MIM:615342 is_a: DOID:14557 ! primary pulmonary hypertension [Term] id: DOID:9003494 name: Uniparental Disomy of 13 synonym: "Maternal uniparental disomy of chromosome 13" EXACT [] synonym: "Paternal uniparental disomy 13" EXACT [] synonym: "Paternal uniparental disomy of chromosome 13" EXACT [] synonym: "Uniparental disomy of chromosome 13" EXACT [] xref: MESH:C536469 is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9003495 name: Diaper Rash def: "A type of irritant dermatitis localized to the area in contact with a diaper and occurring most often as a reaction to prolonged contact with urine, feces, or retained soap or detergent." [MESH:D003963] synonym: "Diaper Rashes" EXACT [] xref: MESH:D003963 is_a: DOID:2772 ! irritant dermatitis [Term] id: DOID:9003496 name: Diabetic Coma def: "A state of unconsciousness as a complication of diabetes mellitus. It occurs in cases of extreme HYPERGLYCEMIA or extreme HYPOGLYCEMIA as a complication of INSULIN therapy." [MESH:D003926] synonym: "Diabetic Comas" EXACT [] xref: MESH:D003926 is_a: DOID:9002661 ! Diabetes Complications [Term] id: DOID:9003497 name: Mild Encephalitis/Encephalopathy with Reversible Myelin Vacuolization synonym: "MERS" EXACT [] synonym: "mild encephalitis/encephalopathy with reversible splenial lesion" EXACT [] synonym: "MMERV" EXACT [] synonym: "MYRF-RELATED CONDITION" BROAD [] xref: MIM:618113 is_a: DOID:936 ! brain disease created_by: mtutaj creation_date: 2019-04-16T09:51:57Z [Term] id: DOID:9003498 name: Prader-Willi-Like Syndrome Associated with Chromosome 6 xref: MESH:C566764 xref: RDO:0015021 is_a: DOID:11983 ! Prader-Willi syndrome is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9003499 name: SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, MICROCEPHALY, HYPOTONIA, AND OCULAR ANOMALIES def: "This disease is characterized by short stature, impaired intellectual development, microcephaly, hypotonia, and ocular anomalies." [MIM:619557] synonym: "SIMHA" EXACT [] synonym: "SIMHA SYNDROME" EXACT [] synonym: "ZNF407-RELATED CONDITION" EXACT [] xref: MIM:619557 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008296 ! Eye Abnormalities created_by: slaulede creation_date: 2021-12-13T14:28:06Z [Term] id: DOID:9003502 name: Antecubital Pterygium alt_id: MIM:178200 xref: MESH:C566738 is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9003503 name: Penis Agenesis synonym: "Agenesis of the penis" EXACT [] synonym: "Micropenis" EXACT [] synonym: "Penis agenesia" EXACT [] xref: MESH:C536649 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:9003504 name: Dentin Dysplasia, Type 1 alt_id: DOID:9003147 synonym: "DENTIN DYSPLASIA, SHIELDS TYPE I" EXACT [] synonym: "Dentin Dysplasia, Type I" EXACT [] synonym: "dentin dysplasia type I, with extreme microdontia and misshapen teeth" EXACT [] synonym: "DTDP1" EXACT [] synonym: "Hypoplasia of Teeth Roots" EXACT [] synonym: "radicular dentin dysplasia" EXACT [] synonym: "rootless teeth" EXACT [] xref: MESH:C538215 xref: MESH:C564144 xref: MIM:125400 xref: MONDO:0007436 is_a: DOID:701 ! dentin dysplasia [Term] id: DOID:9003505 name: Venous Thromboembolism def: "Obstruction of a vein or VEINS (embolism) by a blood clot (THROMBUS) in the blood stream." [MESH:D054556] synonym: "Venous thromboembolism, susceptibility to" RELATED [] synonym: "VENOUS THROMBOEMBOLISM THROMBOSIS, PROTECTION AGAINST" RELATED [] synonym: "VTE" EXACT [] xref: EFO:0004286 xref: MESH:D054556 is_a: DOID:9003121 ! Thromboembolism [Term] id: DOID:9003506 name: Cholera Morbus alt_id: RDO:0007068 def: "An old term that is no longer used in the scientific literature. Cholera morbus refers to acute GASTROENTERITIS occurring in summer or autumn; characterized by severe cramps, diarrhea, and vomiting." [MESH:D017688] synonym: "summer cholera" EXACT [] synonym: "summer choleras" EXACT [] xref: MESH:D017688 is_a: DOID:2326 ! gastroenteritis [Term] id: DOID:9003507 name: Premature Birth def: "CHILDBIRTH before 37 weeks of PREGNANCY (259 days from the first day of the mother's last menstrual period, or 245 days after FERTILIZATION)." [MESH:D047928] synonym: "Premature Births" EXACT [] synonym: "Preterm Birth" EXACT [] synonym: "Preterm Births" EXACT [] synonym: "spontaneous preterm birth" NARROW [] xref: EFO:0003917 xref: EFO:0006917 xref: MESH:D047928 is_a: DOID:9002633 ! Premature Obstetric Labor [Term] id: DOID:9003508 name: Iris Pigment Epithelium Anomalies alt_id: MIM:601616 synonym: "Cysts of Iris Pigment Epithelium" EXACT [] synonym: "Ruffles and Cysts of Iris Pigment Epithelium" EXACT [] xref: MESH:C566651 is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9003509 name: External Ophthalmoplegia and Myopia alt_id: MIM:311000 alt_id: RDO:0013162 synonym: "Myopia-Ophthalmoplegia Syndrome" EXACT [] synonym: "OPEM" EXACT [] xref: MESH:C564087 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11830 ! myopia is_a: DOID:539 ! ophthalmoplegia [Term] id: DOID:9003510 name: Mandibular Nerve Injuries def: "Traumatic injuries to the MANDIBULAR NERVE and its branches. Note that marginal mandibular nerve injury is a type of FACIAL NERVE INJURIES. Injuries to LINGUAL NERVE branch of mandibular nerve is LINGUAL NERVE INJURIES. (MESH)" [] synonym: "Auriculotemporal Nerve Injuries" EXACT [] synonym: "Auriculotemporal Nerve Injury" EXACT [] synonym: "Buccal Nerve Injuries" EXACT [] synonym: "Buccal Nerve Injury" EXACT [] synonym: "Deep Temporal Nerve Injuries" EXACT [] synonym: "Deep Temporal Nerve Injury" EXACT [] synonym: "Inferior Alveolar Nerve Injuries" EXACT [] synonym: "Inferior Alveolar Nerve Injury" EXACT [] synonym: "Lateral Pterygoid Nerve Injuries" EXACT [] synonym: "Lateral Pterygoid Nerve Injury" EXACT [] synonym: "mandibular nerve Injury" EXACT [] synonym: "Masseteric Nerve Injuries" EXACT [] synonym: "Masseteric Nerve Injury" EXACT [] synonym: "Mental Nerve Injuries" EXACT [] synonym: "Mental Nerve Injury" EXACT [] xref: MESH:D000080902 is_a: DOID:9006864 ! Trigeminal Nerve Injuries created_by: mtutaj creation_date: 2020-01-30T17:44:03Z [Term] id: DOID:9003511 name: ischemic cardiomyopathy def: "This disease is a cardiomyopathy in which a weakness in the muscle of the heart due to inadequate oxygen delivery to the myocardium with coronary artery disease being the most common cause." [EFO:0001425] xref: EFO:0001425 is_a: DOID:3978 ! extrinsic cardiomyopathy created_by: slaulede creation_date: 2022-12-09T15:45:41Z [Term] id: DOID:9003513 name: Myopia 10 alt_id: MIM:609259 synonym: "MYP10" EXACT [] xref: MESH:C563758 is_a: DOID:11830 ! myopia [Term] id: DOID:9003514 name: Congenital Partial Atresia of Larynx alt_id: MIM:150300 xref: MESH:C563637 is_a: DOID:786 ! laryngeal disease [Term] id: DOID:9003515 name: Neonatal Pulmonary Hypertension synonym: "CARBAMOYL PHOSPHATE SYNTHETASE I POLYMORPHISM" RELATED [] synonym: "neonatal pulmonary hypertension, susceptibility to" RELATED [] synonym: "PHN" EXACT [] xref: MIM:615371 is_a: DOID:14557 ! primary pulmonary hypertension is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9003516 name: Channelopathies def: "A variety of neuromuscular conditions resulting from MUTATIONS in ION CHANNELS manifesting as episodes of EPILEPSY; HEADACHE DISORDERS; and DYSKINESIAS." [MESH:D053447] synonym: "Channelopathy" EXACT [] xref: MESH:D053447 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9003518 name: Alsing Syndrome xref: MESH:C536588 xref: RDO:0002214 is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease [Term] id: DOID:9003519 name: Pathologic Bone Demineralization def: "Decrease, loss, or removal of the mineral constituents of bones. Temporary loss of bone mineral content is especially associated with space flight, weightlessness, and extended immobilization. OSTEOPOROSIS is permanent, includes reduction of total bone mass, and is associated with increased rate of fractures. CALCIFICATION, PHYSIOLOGIC is the process of bone remineralizing. (From Dorland, 27th ed; Stedman, 25th ed; Nicogossian, Space Physiology and Medicine, 2d ed, pp327-33)" [MESH:D018488] xref: MESH:D018488 is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:9003521 name: Glycogen Storage Disease ID synonym: "GSD1d" EXACT [] xref: MESH:C562806 is_a: DOID:0081329 ! glycogen storage disease I [Term] id: DOID:9003522 name: Spastic Paraplegia with Neuropathy and Poikiloderma alt_id: MIM:182815 synonym: "familial spastic paraplegia with neuropathy and poikiloderma" EXACT [] synonym: "spastic paraplegia, neuropathy, poikiloderma" EXACT [] xref: MESH:C536870 is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:2732 ! Rothmund-Thomson syndrome [Term] id: DOID:9003523 name: Canaliculitis def: "Inflammation and infection of the lacrimal canaliculus area in the LACRIMAL APPARATUS." [MESH:D000069282] synonym: "Canaliculitides" EXACT [] synonym: "Lacrimal Canaliculitides" EXACT [] synonym: "Lacrimal Canaliculitis" EXACT [] xref: MESH:D000069282 is_a: DOID:9938 ! dacryocystitis [Term] id: DOID:9003524 name: Brachmann-De Lange-Like Facial Changes with Microcephaly, Metatarsus Adductus, and Developmental Delay alt_id: MIM:112370 xref: MESH:C566206 is_a: DOID:11725 ! Cornelia de Lange syndrome [Term] id: DOID:9003525 name: Myopia 21, Autosomal Dominant synonym: "MYP21" EXACT [] xref: MIM:614167 is_a: DOID:11830 ! myopia [Term] id: DOID:9003526 name: Recurrent Laryngeal Nerve Injuries def: "Traumatic injuries to the RECURRENT LARYNGEAL NERVE that may result in vocal cord dysfunction." [MESH:D061226] synonym: "Recurrent Laryngeal Nerve Contusion" EXACT [] synonym: "Recurrent Laryngeal Nerve Injury" EXACT [] synonym: "Recurrent Laryngeal Nerve Transection" EXACT [] synonym: "Recurrent Laryngeal Nerve Trauma" EXACT [] synonym: "Recurrent Laryngeal Neuropathy, Traumatic" EXACT [] xref: MESH:D061226 xref: RDO:0010062 is_a: DOID:9003057 ! Laryngeal Nerve Injuries [Term] id: DOID:9003527 name: Poroma def: "A benign adnexal neoplasm composed of EPITHELIAL CELLS. They typically manifest as solitary papules and occur only in the skin." [MESH:D057091] synonym: "Apocrine Poroma" EXACT [] synonym: "Apocrine Poromas" EXACT [] synonym: "Eccrine Poroma" EXACT [] synonym: "Hidracanthoma Simplex" EXACT [] synonym: "Poromas" EXACT [] xref: EFO:1001826 xref: MESH:D057091 xref: RDO:0007778 is_a: DOID:5442 ! eccrine acrospiroma [Term] id: DOID:9003528 name: Osteopetrosis Lethal synonym: "Autosomal malignant osteopetrosis" EXACT [] xref: MESH:C536057 xref: RDO:0001473 is_a: DOID:13533 ! osteopetrosis [Term] id: DOID:9003529 name: Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps alt_id: MIM:611773 synonym: "Autosomal Dominant Familial Hematuria, Retinal Arteriolar Tortuosity, Contractures" EXACT [] synonym: "Hanac" EXACT [] synonym: "HANAC-LIKE SYNDROME" RELATED [] synonym: "Hanac Syndrome" EXACT [] synonym: "Hereditary Angiopathy with Nephropathy, Aneurysm, and Muscle Cramps Syndrome" EXACT [] synonym: "Hereditary Angiopathy with Nephropathy, Aneurysms, and Muscle Cramps Syndrome" EXACT [] xref: GARD:10889 xref: MESH:C567088 xref: MONDO:0012726 xref: ORDO:73229 is_a: DOID:10300 ! Raynaud disease is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9000373 ! Muscle Cramp [Term] id: DOID:9003530 name: Al-Raqad Syndrome synonym: "ARS" EXACT [] xref: MIM:616459 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9003532 name: IMMUNODEFICIENCY 101 (VARICELLA ZOSTER VIRUS-SPECIFIC) def: "This disease is an autosomal dominant immunologic condition characterized by reactivation of varicella zoster virus (VZV) infection in adulthood after primary childhood infection with VZV. The viral reactivation manifests as central nervous system vasculitis with stroke-like episodes and lacunar infarcts on brain imaging. Features include headache, hemiparesis, impaired balance, and other neurologic signs. The disorder results from an impaired innate immune response specifically to VZV DNA." [MIM:619872] synonym: "IMD101" EXACT [] synonym: "immunodeficiency-101 (varicella zoster virus-specific" EXACT [] xref: MIM:619872 is_a: DOID:612 ! primary immunodeficiency disease created_by: slaulede creation_date: 2022-06-24T10:51:42Z [Term] id: DOID:9003533 name: Graft Pancreatitis alt_id: RDO:0007712 def: "An inflammatory disease and serious complication of PANCREAS TRANSPLANTATION. It is caused by a premature activation of pancreatic proenzymes leading to autodigestion of the gland and can be attributed to immunological or nonimmunological causes." [MESH:D055589] xref: MESH:D055589 is_a: DOID:4989 ! pancreatitis [Term] id: DOID:9003534 name: Erythroderma Desquamativa of Leiner synonym: "Erythroderma Desquamativum of Infancy" EXACT [] synonym: "Generalized erythroderma, diarrhea, and failure to thrive" EXACT [] synonym: "Leiner-Moussous Desquamative Erythroderma" EXACT [] xref: MESH:C535512 xref: RDO:0000660 is_a: DOID:9006215 ! Exfoliative Dermatitis [Term] id: DOID:9003535 name: Bone Marrow Failure Syndrome 5 synonym: "BMFS5" EXACT [] xref: MIM:618165 is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes created_by: mtutaj creation_date: 2019-03-15T14:09:34Z [Term] id: DOID:9003536 name: Familial Thoracic Aortic Aneurysm 8 synonym: "AAT8" EXACT [] synonym: "PRKG1-RELATED CONDITION" EXACT [] xref: MIM:615436 is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:9003537 name: Phosphohydroxylysinuria synonym: "PHLU" EXACT [] xref: MIM:615011 is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2015-06-11T00:00:00Z [Term] id: DOID:9003538 name: Myotonia with Skeletal Abnormalities and Mental Retardation alt_id: MIM:255710 xref: MESH:C564967 is_a: DOID:1059 ! intellectual disability is_a: DOID:2106 ! myotonia congenita [Term] id: DOID:9003539 name: Hyperacusis def: "An abnormally disproportionate increase in the sensation of loudness in response to auditory stimuli of normal volume. COCHLEAR DISEASES; VESTIBULOCOCHLEAR NERVE DISEASES; FACIAL NERVE DISEASES; STAPES SURGERY; and other disorders may be associated with this condition." [MESH:D012001] synonym: "Auditory Hyperesthesia" EXACT [] synonym: "Auditory Hyperesthesias" EXACT [] synonym: "Hyperacuses" EXACT [] synonym: "Hyperacusia" EXACT [] synonym: "Hyperacusias" EXACT [] synonym: "Loudness Perception Disturbance" EXACT [] synonym: "Loudness Perception Disturbances" EXACT [] synonym: "Loudness Recruitment" EXACT [] synonym: "Loudness Recruitments" EXACT [] synonym: "Phonophobia" EXACT [] synonym: "Phonophobias" EXACT [] xref: MESH:D012001 is_a: DOID:9002500 ! Hearing Disorders [Term] id: DOID:9003540 name: Postaxial Polydactyly, Type A10 synonym: "PAPA10" EXACT [] xref: MIM:618498 is_a: DOID:9003071 ! Postaxial Polydactyly created_by: mtutaj creation_date: 2019-07-15T08:34:22Z [Term] id: DOID:9003541 name: Hereditary Sensorimotor Neuropathy with Upper Motor Neuron, Visual Pathway and Autonomic Disturbance alt_id: MIM:162380 xref: MESH:C563517 is_a: DOID:11589 ! Riley-Day syndrome is_a: DOID:231 ! motor neuron disease is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:5614 ! eye disease [Term] id: DOID:9003542 name: Keratoconus 5 synonym: "KTCN5" EXACT [] xref: MIM:614622 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9003543 name: Motor Neuron Disease with Dementia and Ophthalmoplegia alt_id: MIM:600333 xref: MESH:C563954 is_a: DOID:1307 ! dementia is_a: DOID:231 ! motor neuron disease is_a: DOID:539 ! ophthalmoplegia [Term] id: DOID:9003544 name: Visceral Heterotaxy 9, Autosomal synonym: "autosomal visceral heterotaxy-9 with male infertility" EXACT [] synonym: "HTX9" EXACT [] synonym: "MNS1-RELATED CONDITION" EXACT [] xref: MIM:618948 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:12336 ! male infertility created_by: mtutaj creation_date: 2020-07-23T09:31:18Z [Term] id: DOID:9003545 name: Paraneoplastic Cerebellar Degeneration def: "Cerebellar degeneration associated with a remote neoplasm. Clinical manifestations include progressive limb and GAIT ATAXIA; DYSARTHRIA; and NYSTAGMUS, PATHOLOGIC. The histologic type of the associated neoplasm is usually carcinoma or lymphoma. Pathologically the cerebellar cortex and subcortical nuclei demonstrate diffuse degenerative changes. Anti-Purkinje cell antibodies (anti-Yo) are found in the serum of approximately 50% of affected individuals. (Adams et al., Principles of Neurology, 6th ed, p686)" [MESH:D020362] synonym: "Anti Yo Associated Paraneoplastic Cerebellar Degeneration" EXACT [] synonym: "Paraneoplastic Cerebellar Syndrome" EXACT [] synonym: "Paraneoplastic Cerebellar Syndromes" EXACT [] xref: MESH:D020362 xref: RDO:0007401 is_a: DOID:2786 ! cerebellar disease is_a: DOID:9003906 ! Nervous System Paraneoplastic Syndromes [Term] id: DOID:9003546 name: Total Intestinal Aganglionosis alt_id: MIM:202550 alt_id: RDO:0003993 def: "A rare, uniformly fatal condition with absence of ganglia from the duodenum to the rectum." [PMID:4045675] synonym: "Near-total intestinal aganglionosis" EXACT [] xref: MESH:C538058 is_a: DOID:10487 ! Hirschsprung's disease [Term] id: DOID:9003548 name: Infant, Newborn, Diseases alt_id: RDO:0004815 def: "Diseases of newborn infants present at birth (congenital) or developing within the first month of birth. It does not include hereditary diseases not manifesting at birth or within the first 30 days of life nor does it include inborn errors of metabolism. Both HEREDITARY DISEASES and METABOLISM, INBORN ERRORS are available as general concepts." [MESH:D007232] synonym: "Neonatal Disease" EXACT [] synonym: "Neonatal Diseases" EXACT [] synonym: "perinatal disease" BROAD [] xref: EFO:0010238 xref: MESH:D007232 is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Term] id: DOID:9003549 name: Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) synonym: "episodic encephalopathy due to thiamine pyrophosphokinase deficiency" EXACT [] synonym: "THMD5" EXACT [] xref: MIM:614458 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:9003550 name: Distal Transverse Limb Defects with Mental Retardation and Spasticity alt_id: MIM:246555 xref: MESH:C565438 is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9003551 name: German Syndrome alt_id: MIM:231080 xref: MESH:C562543 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema is_a: DOID:9000831 ! Hypokinesia is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:9003552 name: Candidiasis, Familial, 8 alt_id: RDO:9000981 synonym: "CANDF8" EXACT [] xref: MIM:615527 is_a: DOID:2058 ! chronic mucocutaneous candidiasis [Term] id: DOID:9003554 name: Glycosylphosphatidylinositol Biosynthesis Defect 25 def: "A glycosylphosphatidylinositol biosynthesis defect caused by homozygous mutation in the C18ORF32 gene on chromosome 18q21." [MIM:619985] synonym: "GPIBD25" EXACT [] synonym: "neurodevelopmental disorder with hypotonia and contractures" EXACT [] xref: MIM:619985 is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2022-08-08T11:10:29Z [Term] id: DOID:9003555 name: Androgen Insensitivity Syndrome due to Coactivator Deficiency xref: MESH:C564545 is_a: DOID:4674 ! androgen insensitivity syndrome [Term] id: DOID:9003556 name: Floating-Betalipoproteinemia alt_id: RDO:0014667 xref: MESH:C566265 is_a: DOID:3145 ! hyperlipoproteinemia type III [Term] id: DOID:9003558 name: Neurofibromatosis, Familial Intestinal synonym: "Neurofibromatosis 3B" EXACT [] xref: MESH:C537391 xref: RDO:0003229 is_a: DOID:8712 ! neurofibromatosis [Term] id: DOID:9003559 name: Brachyolmia Type 3 alt_id: MIM:113500 synonym: "BCYM3" EXACT [] synonym: "Brachyolmia, autosomal dominant" EXACT [] xref: MESH:C562963 is_a: DOID:0050690 ! brachyolmia [Term] id: DOID:9003561 name: 5-Nucleotidase Syndrome xref: MESH:C535321 is_a: DOID:225 ! syndrome is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9003562 name: Primary Autosomal Recessive Microcephaly 29 def: "A disease characterized by small head circumference apparent at birth and associated with global developmental delay, impaired intellectual development, speech delay, and behavioral abnormalities. Caused by homozygous mutation in the PDCD6IP gene on chromosome 3p22" [MIM:620047] synonym: "MCPH29" EXACT [] xref: MIM:620047 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: mtutaj creation_date: 2022-09-22T15:38:24Z [Term] id: DOID:9003563 name: KOHLSCHUTTER-TONZ SYNDROME-LIKE def: "This is a disease characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills." [MIM:619229] synonym: "DEN HOED-DE BOER-VOISIN SYNDROME" EXACT [] synonym: "DHDBV" EXACT [] synonym: "KTZSL" EXACT [] synonym: "SATB1-RELATED CONDITION" BROAD [] xref: MIM:619229 is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2021-04-09T10:15:12Z [Term] id: DOID:9003564 name: Myofibromatosis def: "A condition characterized by multiple formations of myofibromas (LEIOMYOMA)." [MESH:D018224] synonym: "Myofibromatoses" EXACT [] xref: MESH:D018224 xref: RDO:0007121 is_a: DOID:9008446 ! Fibrous Tissue Neoplasms [Term] id: DOID:9003565 name: Paratuberculosis def: "A chronic GASTROENTERITIS in RUMINANTS caused by MYCOBACTERIUM AVIUM SUBSPECIES PARATUBERCULOSIS." [MESH:D010283] synonym: "Johne's Disease" EXACT [] synonym: "Johne Disease" EXACT [] synonym: "Johnes Disease" EXACT [] synonym: "Paratuberculoses" EXACT [] xref: MESH:D010283 is_a: DOID:9001415 ! Mycobacterium Infections is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9003566 name: Mesothelioma def: "A tumor derived from mesothelial tissue (peritoneum, pleura, pericardium). It appears as broad sheets of cells, with some regions containing spindle-shaped, sarcoma-like cells and other regions showing adenomatous patterns. Pleural mesotheliomas have been linked to exposure to asbestos. (Dorland, 27th ed)" [MESH:D008654] synonym: "Mesotheliomas" EXACT [] xref: EFO:0000588 xref: MESH:D008654 xref: NCI:C21619 is_a: DOID:657 ! adenoma is_a: DOID:9002899 ! Mesothelial Neoplasms [Term] id: DOID:9003567 name: Cutaneous Bullous Amyloidosis alt_id: MIM:204900 xref: MESH:C562644 is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:9004492 ! Familial Amyloidosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9003568 name: Cataract, Congenital Dominant Non Nuclear synonym: "autosomal dominant nonnuclear polymorphic congenital cataract" EXACT [] synonym: "polymorphic congenital cataract" EXACT [] xref: MESH:C538284 is_a: DOID:83 ! cataract [Term] id: DOID:9003570 name: Kaya-Barakat-Masson Syndrome synonym: "KABAMAS" EXACT [] xref: MIM:619125 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2020-12-18T11:54:13Z [Term] id: DOID:9003571 name: Paraproteinemias def: "A group of related diseases characterized by an unbalanced or disproportionate proliferation of immunoglobulin-producing cells, usually from a single clone. These cells frequently secrete a structurally homogeneous immunoglobulin (M-component) and/or an abnormal immunoglobulin." [] synonym: "monoclonal gammapathies" EXACT [] synonym: "Monoclonal Gammapathy" EXACT [] synonym: "Monoclonal Gammopathies" EXACT [] synonym: "Monoclonal Gammopathy" EXACT [] synonym: "Paraimmunoglobulinemia" EXACT [] synonym: "Paraimmunoglobulinemias" EXACT [] synonym: "Paraproteinemia" EXACT [] synonym: "Plasma Cell Dyscrasia" EXACT [] synonym: "plasma cell dyscrasias" EXACT [] xref: MESH:D010265 is_a: DOID:620 ! blood protein disease is_a: DOID:9008463 ! Immunoproliferative Disorders [Term] id: DOID:9003572 name: Mandibulofacial Dysostosis with Macroblepharon and Macrostomia alt_id: MIM:602562 xref: MESH:C566520 is_a: DOID:1934 ! dysostosis is_a: DOID:9008205 ! Macrostomia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003573 name: Congenital Arthrogryposis with Anterior Horn Cell Disease def: "This disease is an autosomal recessive neuromuscular disorder with highly variable severity. Affected individuals present at birth with generalized contractures manifest as arthrogryposis multiplex congenita (AMC). Patients have severe hypotonia with respiratory insufficiency. The disorder also includes multiple congenital anomalies associated with AMC and hypotonia, including high-arched palate, myopathic facies, and bulbar weakness. Neuropathologic studies demonstrate severe loss of anterior horn cells in the spinal cord, as well as diffuse motor neuron axonopathy." [] synonym: "CAAHD" EXACT [] synonym: "GLE1-RELATED CONDITION" BROAD [] synonym: "GLE1-RELATED DISORDER" BROAD [] synonym: "LAAHD" EXACT [] synonym: "lethal arthrogryoposis with anterior horn cell disease" RELATED [] synonym: "lethal arthrogryposis with anterior horn cell disease" EXACT [] xref: MESH:C567502 xref: MIM:611890 xref: MONDO:0012750 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:9001897 ! MOTOR NEURON ATROPHY [Term] id: DOID:9003574 name: Congenital Visceral Steatosis alt_id: MIM:228100 synonym: "congenital fatty liver disease" EXACT [] synonym: "fatal neonatal hepatic steatosis" EXACT [] synonym: "fatty metamorphosis of viscera" EXACT [] synonym: "white liver disease" EXACT [] xref: MESH:C536351 is_a: DOID:9452 ! steatotic liver disease [Term] id: DOID:9003575 name: Insulin Coma def: "Severe HYPOGLYCEMIA induced by a large dose of exogenous INSULIN resulting in a COMA or profound state of unconsciousness from which the individual cannot be aroused." [MESH:D007331] synonym: "Insulin Shock" EXACT [] xref: MESH:D007331 is_a: DOID:9006462 ! Coma is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:9003576 name: Prognathism def: "A condition marked by abnormal protrusion of the mandible. (Dorland, 27th ed)" [MESH:D011378] synonym: "prognathisms" EXACT [] xref: MESH:D011378 is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9006309 ! Mandibular Diseases [Term] id: DOID:9003578 name: Myeloid Splenomegaly synonym: "Idiopathic myeloid splenomegaly" EXACT [] xref: MESH:C536094 is_a: DOID:4837 ! Gorham's disease is_a: DOID:9002720 ! Splenomegaly [Term] id: DOID:9003579 name: Complex Camptosynpolydactyly alt_id: MIM:607539 synonym: "CCSPD" EXACT [] synonym: "Disorganization Type Camptopolydactyly" EXACT [] xref: MESH:C564383 is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9003580 name: Primary Congenital Glaucoma 3, D alt_id: MIM:613086 synonym: "GLC3D" EXACT [] xref: MESH:C567765 is_a: DOID:0050593 ! primary congenital glaucoma [Term] id: DOID:9003582 name: Muscle Tissue Neoplasms alt_id: MESH:D019042 def: "Neoplasms composed of muscle tissue: skeletal, cardiac, or smooth. The concept does not refer to neoplasms located in muscles." [MESH:D009379, MESH:D019042] synonym: "muscle neoplasm" EXACT [] synonym: "muscle neoplasms" EXACT [] synonym: "muscle tissue neoplasm" EXACT [] synonym: "myofibroblastoma" EXACT [] synonym: "myofibroblastomas" EXACT [] xref: MESH:D009379 is_a: DOID:66 ! muscle tissue disease is_a: DOID:9007429 ! Soft Tissue Neoplasms is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms [Term] id: DOID:9003583 name: Chromosome 13q33-q34 Deletion Syndrome xref: MIM:619148 is_a: DOID:0060388 ! chromosomal deletion syndrome created_by: mtutaj creation_date: 2021-01-11T09:19:59Z [Term] id: DOID:9003584 name: Tooth Injuries def: "Traumatic or other damage to teeth including fractures (TOOTH FRACTURES) or displacements (TOOTH LUXATION)." [MESH:D018677] synonym: "Teeth Injuries" EXACT [] synonym: "Teeth Injury" EXACT [] synonym: "Tooth Injury" EXACT [] xref: MESH:D018677 is_a: DOID:1091 ! tooth disease is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9003585 name: Major Depressive Disorder 1 synonym: "MDD1" EXACT [] synonym: "Unipolar Depression 1" EXACT [] xref: MESH:C563919 xref: MIM:608520 xref: MONDO:0012050 is_a: DOID:1470 ! major depressive disorder [Term] id: DOID:9003586 name: Pancreatitis, Sclerosing Cholangitis, and Sicca Complex alt_id: MIM:260480 xref: MESH:C564906 is_a: DOID:12894 ! Sjogren's syndrome is_a: DOID:14268 ! sclerosing cholangitis is_a: DOID:9006190 ! Chronic Pancreatitis [Term] id: DOID:9003587 name: Congenital Heart Defects, Multiple Types, 1, X-Linked alt_id: MIM:306955 synonym: "CHTD1" NARROW [] synonym: "dextrocardia with other cardiac malformations" EXACT [] synonym: "Heterotaxy, Visceral, 1, X-Linked" EXACT [] synonym: "Heterotaxy, Visceral, X-Linked" EXACT [] synonym: "HTX1" EXACT [] synonym: "Laterality, X-linked" EXACT [] synonym: "situs inversus, complex cardiac defects, and splenic defects, X-linked" EXACT [] synonym: "visceral heterotaxia" EXACT [] xref: EFO:0009136 xref: MESH:C538116 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:9006385 ! Congenital Heart Defects, X-Linked is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types is_a: DOID:9565 ! dextrocardia [Term] id: DOID:9003588 name: Multisystem Autoimmune Disease, Infantile-Onset, 3 def: "An autosomal recessive disorder of immune dysregulation characterized by the onset of various systemic autoimmune manifestations in the first months or years of life. Caused by homozygous mutation in the CBLB gene on chromosome 3q13." [MIM:620430] synonym: "ADMIO3" EXACT [] synonym: "CBLB deficiency" EXACT [] xref: MIM:620430 xref: MONDO:0957388 is_a: DOID:9002419 ! Multisystem Autoimmune Disease, Infantile-Onset created_by: mtutaj creation_date: 2023-07-07T12:42:35Z [Term] id: DOID:9003589 name: Acromegaloid Facial Appearance Syndrome alt_id: MIM:102150 synonym: "Thick lips and oral mucosa" EXACT [] xref: MESH:C535655 is_a: DOID:225 ! syndrome is_a: DOID:2449 ! acromegaly is_a: DOID:420 ! hypertrichosis is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9003590 name: Duane Retraction Syndrome 2 synonym: "Duane retraction syndrome type 2" EXACT [] synonym: "Duane syndrome type 2" EXACT [] synonym: "DURS2" EXACT [] xref: MIM:604356 is_a: DOID:12557 ! Duane retraction syndrome created_by: mtutaj creation_date: 2020-03-02T08:45:40Z [Term] id: DOID:9003591 name: Telecanthus alt_id: MIM:187350 xref: MESH:C562941 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003592 name: Wiedemann Oldigs Oppermann Syndrome alt_id: MIM:142625 def: "A rare syndrome characterized mainly by excessive hair growth, mental retardation and skeletal abnormalities." [] synonym: "hirsutism, skeletal dysplasia, mental retardation syndrome" EXACT [] xref: MESH:C536705 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9004507 ! Hirsutism [Term] id: DOID:9003594 name: Mitochondrial Cytopathy alt_id: RDO:0004610 def: "Mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, exposure to toxins (including some prescription medications), and the aging process itself. In addition, a number of well-described diseases can decrease mitochondrial energy production; these include hyperthyroidism, hypothyroidism, and hyperlipidemia." [url:http\://members.ziggo.nl/b.beukema/mitocytopathy.pdf] xref: MESH:C540770 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9003595 name: DEAFNESS, CATARACT, IMPAIRED INTELLECTUAL DEVELOPMENT, AND POLYNEUROPATHY def: "This disease is characterized by early-onset of deafness, cataract, severe developmental delay, and severely impaired intellectual development. Patients later develop polyneuropathy of the lower extremities, associated with depigmentation of the hair in that area." [MIM:619354] synonym: "DCIDP" EXACT [] xref: MIM:619354 is_a: DOID:1059 ! intellectual disability is_a: DOID:1389 ! polyneuropathy is_a: DOID:83 ! cataract is_a: DOID:9008681 ! Deafness created_by: slaulede creation_date: 2021-08-12T10:01:47Z [Term] id: DOID:9003596 name: Autosomal Dominant Compelling Helio Ophthalmic Outburst Syndrome alt_id: MIM:100820 synonym: "Achoo Syndrome" EXACT [] synonym: "Autosomal Dominant Compelling Helioophthalmic Outburst Syndrome" EXACT [] synonym: "Peroutka sneeze" EXACT [] synonym: "Photic sneeze reflex" EXACT [] xref: EFO:0007887 xref: MESH:C535300 is_a: DOID:225 ! syndrome is_a: DOID:9000133 ! Sneezing [Term] id: DOID:9003597 name: May-Thurner Syndrome def: "A compression of ILIAC VEIN that results in a decreased flow in the vein and in the left LOWER EXTREMITY due to a vascular malformation. It may result in left leg EDEMA, pain, iliofemoral DEEP VENOUS THROMBOSIS and POSTTHROMBOTIC SYNDROME. Compression of the left common ILIAC VEIN by the right common ILIAC ARTERY against the underlying fifth LUMBAR VERTEBRA is the typical underlying malformation." [MESH:D062108] synonym: "Cockett Syndrome" EXACT [] synonym: "Iliac Vein Compression Syndrome" EXACT [] synonym: "Iliocaval Compression Syndrome" EXACT [] synonym: "Iliocaval Compression Syndromes" EXACT [] xref: MESH:D062108 xref: RDO:0012103 is_a: DOID:225 ! syndrome is_a: DOID:341 ! peripheral vascular disease is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:9003598 name: Glaucoma 1, Open Angle, H alt_id: MIM:611276 synonym: "GLC1H" EXACT [] xref: MESH:C566976 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9003599 name: Alves Castelo dos Santos Syndrome alt_id: RDO:0002221 synonym: "Ectodermal dysplasia syndrome of hypotrichosis, onychodysplasia, hyperkeratosis, kyphoscoliosis, and cataract" EXACT [] xref: MESH:C536593 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:9003600 name: Shoulder Pain def: "Unilateral or bilateral pain of the shoulder. It is often caused by physical activities such as work or sports participation, but may also be pathologic in origin." [MESH:D020069] synonym: "Shoulder Pains" EXACT [] xref: MESH:D020069 is_a: DOID:9006065 ! Arthralgia [Term] id: DOID:9003601 name: Pseudoinflammatory Fundus Dystrophy, Finnish Type alt_id: MIM:264420 synonym: "Fundus dystrophy, pseudoinflammatory recessive form" EXACT [] synonym: "PFD, Finnish type" EXACT [] synonym: "PFD, Lavia type" EXACT [] synonym: "Pseudoinflammatory fundus dystrophy" EXACT [] synonym: "Pseudoinflammatory fundus dystrophy, Lavia type" EXACT [] xref: MESH:C535828 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:9003602 name: Patent Ductus Arteriosus 2 synonym: "PDA2" EXACT [] xref: MIM:617035 xref: RDO:9001463 is_a: DOID:13832 ! patent ductus arteriosus created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:9003603 name: Hemolysis def: "The destruction of ERYTHROCYTES by many different causal agents such as antibodies, bacteria, chemicals, temperature, and changes in tonicity." [MESH:D006461] synonym: "Extravascular Hemolyses" EXACT [] synonym: "Extravascular Hemolysis" EXACT [] synonym: "G6PD GIFU" RELATED [] synonym: "Intravascular Hemolyses" EXACT [] synonym: "Intravascular Hemolysis" EXACT [] xref: EFO:0009473 xref: MESH:D006461 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9003604 name: Pulmonary Atresia with Intact Ventricular Septum alt_id: MIM:265150 xref: MESH:C562832 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9007098 ! Pulmonary Atresia [Term] id: DOID:9003605 name: Glaucoma 1, Open Angle, B synonym: "GLC1B" EXACT [] xref: MIM:606689 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9003606 name: dental phobia def: "This is the fear of dentistry and of receiving dental care." [EFO:1001884] synonym: "dental anxiety" EXACT [] synonym: "dental fear" EXACT [] synonym: "dentist phobia" EXACT [] synonym: "dentophobia" EXACT [] synonym: "odontophobia" EXACT [] xref: EFO:1001884 is_a: DOID:599 ! specific phobia created_by: slaulede creation_date: 2023-02-27T15:50:10Z [Term] id: DOID:9003607 name: Giacheti Syndrome alt_id: MIM:612917 synonym: "Marfanoid Habitus and Specific Language and Learning Disabilities" EXACT [] xref: MESH:C567864 is_a: DOID:225 ! syndrome is_a: DOID:8927 ! learning disability is_a: DOID:9001487 ! Facies is_a: DOID:93 ! language disorder [Term] id: DOID:9003608 name: Dilated Cardiomyopathy 3A synonym: "Cardiomyopathy, Dilated, X-Linked Fatal Infantile" EXACT [] xref: MESH:C564721 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:9003610 name: Asthenopia alt_id: DOID:10141 def: "Term generally used to describe complaints related to refractive error, ocular muscle imbalance, including pain or aching around the eyes, burning and itchiness of the eyelids, ocular fatigue, and headaches." [] synonym: "accommodative strain" EXACT [] synonym: "Eye Fatigue" EXACT [] synonym: "Eyestrain" EXACT [] synonym: "visual fatigue" EXACT [] xref: MESH:D001248 is_a: DOID:5614 ! eye disease created_by: mtutaj creation_date: 2019-11-21T07:18:40Z [Term] id: DOID:9003611 name: Trachomatous Trichiasis def: "A complication of a conjunctival and corneal infection by Chlamydia trachomatis, consisting of eyelashes abnormally turning inward and producing constant irritation caused by motion of the lids." [] synonym: "TT" EXACT [] is_a: DOID:11265 ! trachoma is_a: DOID:9007647 ! Trichiasis [Term] id: DOID:9003612 name: Peroxisome Biogenesis Disorder, Complementation Group 12 xref: MESH:C566405 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9003613 name: Laryngeal Neoplasms def: "Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS." [MESH:D007822] synonym: "Laryngeal Neoplasm" EXACT [] synonym: "laryngeal tumor" EXACT [] synonym: "larynx neoplasm" EXACT [] synonym: "larynx neoplasms" EXACT [] synonym: "neoplasm of larynx" EXACT [] xref: EFO:0003817 xref: MESH:D007822 is_a: DOID:786 ! laryngeal disease is_a: DOID:9003744 ! Respiratory Tract Neoplasms is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms [Term] id: DOID:9003614 name: Roy Maroteaux Kremp Syndrome alt_id: MIM:250500 synonym: "Metaphyseal modeling abnormality, skin lesions, and Spastic paraplegia" EXACT [] xref: MESH:C535875 is_a: DOID:13533 ! osteopetrosis is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:37 ! skin disease is_a: DOID:863 ! nervous system disease [Term] id: DOID:9003615 name: Granuloma, Foreign-Body def: "Histiocytic, inflammatory response to a foreign body. It consists of modified macrophages with multinucleated giant cells, in this case foreign-body giant cells (GIANT CELLS, FOREIGN-BODY), usually surrounded by lymphocytes." [MESH:D015745] synonym: "Foreign-Body Granulomas" EXACT [] xref: MESH:D015745 xref: RDO:0006915 is_a: DOID:9002019 ! Granuloma is_a: DOID:9002438 ! Foreign-Body Reaction [Term] id: DOID:9003617 name: Carrington Syndrome alt_id: RDO:0000807 synonym: "Carrington's Disease" EXACT [] synonym: "Carrington's pulmonary eosinophilia" EXACT [] synonym: "Chronic eosinophilic pneumonia (CEP)" EXACT [] synonym: "Chronic idiopathic eosinophilic pneumonia" EXACT [] synonym: "Eosinophilic idiopathic chronic pneumopathy" EXACT [] xref: MESH:C535590 is_a: DOID:225 ! syndrome is_a: DOID:9498 ! pulmonary eosinophilia [Term] id: DOID:9003618 name: HYPERTRIGLYCERIDEMIA 2 def: "This is a disease is characterized by moderately to severely elevated plasma triglyceride levels, increased total cholesterol levels, and low levels of high density lipoprotein (HDL) cholesterol." [MIM:619324] synonym: "hypertriglyceridemia-2" EXACT [] synonym: "HYTG2" EXACT [] xref: MIM:619324 is_a: DOID:9006599 ! Hypertriglyceridemia created_by: slaulede creation_date: 2021-08-13T13:10:35Z [Term] id: DOID:9003619 name: Homocystinuria, Pyridoxine-Responsive xref: MESH:C565513 xref: RDO:0014127 is_a: DOID:9263 ! homocystinuria [Term] id: DOID:9003621 name: Plexosarcoma synonym: "Gastrointestinal autonomic nerve tumor" EXACT [] xref: MESH:C537517 is_a: DOID:1115 ! sarcoma is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:9253 ! gastrointestinal stromal tumor [Term] id: DOID:9003622 name: Progressive Familial Intrahepatic Cholestasis 10 def: "An autosomal recessive liver disorder characterized by the onset of symptoms in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the MYO5B gene on chromosome 18q21." [MIM:619868] synonym: "MYO5B-RELATED CONDITION" BROAD [] synonym: "PFIC10" EXACT [] xref: MIM:619868 is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis created_by: mtutaj creation_date: 2022-05-09T10:47:59Z [Term] id: DOID:9003623 name: Optic Nerve Hypoplasia and Abnormalities of the Central Nervous System xref: MESH:C565949 xref: RDO:0014449 is_a: DOID:1891 ! optic nerve disease [Term] id: DOID:9003624 name: Refsum Disease with Increased Pipecolic Acidemia xref: MESH:C535517 is_a: DOID:10582 ! Refsum disease is_a: DOID:9005369 ! Hepatomegaly is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9003625 name: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES def: "This disease is characterized by congenital nonprogressive external ophthalmoplegia and ptosis, with torticollis and scoliosis developing during childhood. In addition, patients exhibit hypoplastic or missing ribs with fusion anomalies" [MIM:618155] synonym: "EORVA" EXACT [] synonym: "external ophthalmoplegia with rib and vertebral anomalies" EXACT [] xref: MIM:618155 is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: slaulede creation_date: 2021-04-13T14:24:42Z [Term] id: DOID:9003626 name: Paragangliomas 3 alt_id: MIM:605373 synonym: "extraadrenal pheochromocytoma and cervical paraganglioma" EXACT [] synonym: "familial extraadrenal pheochromocytoma" EXACT [] synonym: "familial glomus tumors 3" EXACT [] synonym: "hereditary extraadrenal paragangliomas" EXACT [] synonym: "PGL3" EXACT [] synonym: "pheochromocytoma/paraganglioma syndrome 3" EXACT [] synonym: "PPGL3" EXACT [] xref: MESH:C565335 is_a: DOID:0050773 ! paraganglioma is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9003627 name: Chromosomal Instability with Tissue-Specific Radiosensitivity alt_id: MIM:215510 xref: MESH:C565848 xref: MONDO:0008983 is_a: DOID:10907 ! microcephaly is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:9003882 ! Chromosomal Instability [Term] id: DOID:9003628 name: Silicosiderosis synonym: "Hematite pneumoconiosis" EXACT [] synonym: "Iron miners lung" EXACT [] xref: MESH:C537337 is_a: DOID:10325 ! silicosis is_a: DOID:9005172 ! Lung Neoplasms [Term] id: DOID:9003629 name: Jeffries-Lakhani Neurodevelopmental Syndrome def: "An autosomal recessive disorder characterized by hypotonia, early-onset seizures, and global developmental delay apparent from infancy. Caused by homozygous or compound heterozygous mutations in the CRELD1 gene on chromosome 3p25." [] synonym: "JELANS" EXACT [] xref: MIM:620771 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: tutajm creation_date: 2024-05-14T09:12:36Z [Term] id: DOID:9003630 name: Acute Disease def: "Disease having a short and relatively severe course." [MESH:D000208] synonym: "Acute Diseases" EXACT [] xref: MESH:D000208 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9003631 name: Diastolic Dysfunction is_a: DOID:1287 ! cardiovascular system disease [Term] id: DOID:9003632 name: Meigs Syndrome def: "The triad of benign FIBROMA or other ovarian tumors with ASCITES, and HYDROTHORAX due to large PLEURAL EFFUSIONS." [MESH:D008539] synonym: "Meig's Syndrome" EXACT [] synonym: "Meig Syndrome" EXACT [] xref: MESH:D008539 is_a: DOID:225 ! syndrome is_a: DOID:9002762 ! Ovarian Neoplasms [Term] id: DOID:9003633 name: Primary Ciliary Dyskinesia 50 def: "A primary ciliary dyskinesia characterized by chronic sinusitis and bronchitis as well as male infertility. Caused by homozygous or compound heterozygous mutation in the DNAH7 gene on chromosome 2q32." [MIM:620356] synonym: "CILD50" EXACT [] xref: MIM:620356 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: mtutaj creation_date: 2023-05-01T09:04:08Z [Term] id: DOID:9003634 name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES def: "This disease is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies." [MIM:619880] synonym: "NEDGS" EXACT [] xref: MIM:619880 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005004 ! Musculoskeletal Abnormalities is_a: DOID:9006257 ! Growth Disorders created_by: slaulede creation_date: 2022-06-30T12:05:32Z [Term] id: DOID:9003635 name: Isolated Pterygium Colli alt_id: MIM:177990 xref: MESH:C566741 is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9003636 name: Absence of Nasal Bones alt_id: MIM:161480 synonym: "agenesis of nasal cartilages" EXACT [] xref: MESH:C562753 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9003637 name: Vestibulocochlear Nerve Injuries def: "Traumatic injuries to the VESTIBULOCOCHLEAR NERVE." [MESH:D061285] synonym: "Cranial Nerve VIII Injury" EXACT [] synonym: "Eighth Cranial Nerve Injuries" EXACT [] synonym: "Eighth Cranial Nerve Injury" EXACT [] synonym: "Eighth Nerve Trauma" EXACT [] synonym: "Eighth-Nerve Traumas" EXACT [] synonym: "Traumatic Eighth-Nerve Palsies" EXACT [] synonym: "Traumatic Eighth Nerve Palsy" EXACT [] synonym: "Traumatic Vestibulocochlear Neuropathies" EXACT [] synonym: "Traumatic Vestibulocochlear Neuropathy" EXACT [] synonym: "Vestibulocochlear Nerve Avulsion" EXACT [] synonym: "Vestibulocochlear Nerve Avulsions" EXACT [] synonym: "Vestibulocochlear Nerve Contusion" EXACT [] synonym: "Vestibulocochlear Nerve Contusions" EXACT [] synonym: "Vestibulocochlear Nerve Injury" EXACT [] synonym: "Vestibulocochlear Nerve Transection" EXACT [] synonym: "Vestibulocochlear Nerve Transections" EXACT [] synonym: "Vestibulocochlear Nerve Trauma" EXACT [] synonym: "Vestibulocochlear Nerve Traumas" EXACT [] xref: MESH:D061285 is_a: DOID:12657 ! vestibulocochlear nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9003638 name: diabetic maculopathy def: "Diabetic maculopathy is a type of diabetic retinopathy and it is a major eye complication and visual impairment amongst people with diabetes. It is a condition that affects the macula, a highly sensitive region located centrally on the retina which is responsible for sharp, clear, and accurate color vision." [EFO:0010133] synonym: "disorder of macula due to diabetes mellitus" EXACT [] synonym: "DM" EXACT [] synonym: "maculopathy due to diabetes mellitus" EXACT [] synonym: "maculopathy with diabetes mellitus" EXACT [] xref: EFO:0010133 is_a: DOID:4448 ! macular degeneration is_a: DOID:8947 ! diabetic retinopathy created_by: slaulede creation_date: 2022-09-15T11:28:35Z [Term] id: DOID:9003639 name: Aorta-Pulmonary Artery Fistula synonym: "Aorto-pulmonary artery fistula" EXACT [] synonym: "Aortopulmonary fistula" EXACT [] xref: MESH:C537782 is_a: DOID:9003403 ! Arterio-Arterial Fistula [Term] id: DOID:9003641 name: Expansile Bone Lesions alt_id: MIM:603439 xref: MESH:C566375 is_a: DOID:0080001 ! bone disease [Term] id: DOID:9003642 name: Craniosynostosis, Adelaide Type alt_id: MIM:600593 synonym: "CRSA" EXACT [] xref: MESH:C563471 xref: RDO:0012718 is_a: DOID:2340 ! craniosynostosis is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9003643 name: Bone Marrow Failure Syndrome 6 synonym: "BMFS6" EXACT [] xref: MIM:618849 is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes created_by: mtutaj creation_date: 2020-04-23T10:26:03Z [Term] id: DOID:9003644 name: Fara Chlupackova Syndrome synonym: "Familial oto-facio-cervical dysmorphia" EXACT [] xref: MESH:C537074 xref: RDO:0002843 is_a: DOID:225 ! syndrome is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:9003645 name: Myopathy with Giant Abnormal Mitochondria alt_id: MIM:255140 xref: MESH:C564971 is_a: DOID:423 ! myopathy is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9003646 name: Arterial Thrombosis def: "The formation or presence of a blood clot (THROMBUS) within an artery." [] synonym: "Artery Thrombis" EXACT [] xref: RDO:9000060 is_a: DOID:0060903 ! thrombosis [Term] id: DOID:9003647 name: Hypospadias 2, X-Linked alt_id: MIM:300758 synonym: "Hysp2" EXACT [] xref: MESH:C567462 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10892 ! hypospadias [Term] id: DOID:9003648 name: N Acetyltransferase Deficiency synonym: "N acetyltransferase 1 deficiency" EXACT [] synonym: "NAT1 deficiency" EXACT [] xref: MESH:C536107 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9003649 name: Hand-Arm Vibration Syndrome def: "An occupational disorder resulting from prolonged exposure to vibration, affecting the fingers, hands, and forearms. It occurs in workers who regularly use vibrating tools such as jackhammers, power chain saws, riveters, etc. Symptoms include episodic finger blanching, NUMBNESS, tingling, and loss of nerve sensitivity." [MESH:D053421] synonym: "Hand-Arm Vibration Syndromes" EXACT [] xref: EFO:1001337 xref: MESH:D053421 xref: RDO:0007618 is_a: DOID:178 ! vascular disease is_a: DOID:225 ! syndrome is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:9003650 name: Precocious Osteodysplasty of Danks, Mayne, and Kozlowski alt_id: MIM:259270 xref: MESH:C564922 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9003652 name: Hydatidiform Mole, Recurrent, 1 def: "A hydatidiform mole is an abnormal pregnancy characterized by hydropic placental villi, trophoblastic hyperplasia, and poor fetal development. Familial recurrent hydatidiform mole is an autosomal recessive condition in which women experience recurrent pregnancy losses, predominantly complete hydatidiform mole (CHM). However, unlike sporadic CHMs, which are androgenetic with 2 paternal chromosome complements, CHMs associated with familial recurrence are genetically biparental in origin with both a maternal and a paternal contribution to the genome. Recurrent hydatidiform mole-1 (HYDM1) is caused by homozygous or compound heterozygous mutation in the NLRP7 gene on chromosome 19q13. (OMIM)" [] synonym: "HYDM1" EXACT [] xref: MIM:231090 is_a: DOID:9005147 ! Hydatidiform Mole [Term] id: DOID:9003653 name: Microcephalic Osteodysplastic Primordial Dwarfism, Type III alt_id: MIM:210730 synonym: "microcephalic osteodysplastic primordial dwarfism, Caroline Crachami type" EXACT [] synonym: "microcephalic osteodysplastic primordial dwarfism, Sicilian fairy type" EXACT [] synonym: "microcephalic osteodysplastic primordial dwarfism, type 3" EXACT [] synonym: "MOPD III" EXACT [] synonym: "osteodysplastic primordial dwarfism, type 3" EXACT [] synonym: "osteodysplastic primordial dwarfism, type III" EXACT [] xref: MESH:C537320 is_a: DOID:9002954 ! Microcephalic Osteodysplastic Primordial Dwarfism [Term] id: DOID:9003654 name: Testicular Germ Cell Tumor alt_id: MIM:273300 synonym: "EMBRYONAL CELL CARCINOMA" NARROW [] synonym: "ENDODERMAL SINUS TUMOR" NARROW [] synonym: "germ cell tumor of testis" EXACT [] synonym: "MALE GERM CELL TUMOR" NARROW [] synonym: "MALE GERM CELL TUMOR, SOMATIC" NARROW [] synonym: "MGCT SEMINOMA" NARROW [] synonym: "NONSEMINOMATOUS GERM CELL TUMORS" NARROW [] synonym: "SPERMATOCYTIC SEMINOMA" NARROW [] synonym: "testicular teratoma" NARROW [] synonym: "TGCT" EXACT [] xref: EFO:1000566 xref: MESH:C563236 xref: ORDO:363504 is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms is_a: DOID:9004207 ! Testicular Neoplasms [Term] id: DOID:9003655 name: Post-Traumatic Epilepsy def: "Recurrent seizures causally related to CRANIOCEREBRAL TRAUMA. Seizure onset may be immediate but is typically delayed for several days after the injury and may not occur for up to two years. The majority of seizures have a focal onset that correlates clinically with the site of brain injury. Cerebral cortex injuries caused by a penetrating foreign object (CRANIOCEREBRAL TRAUMA, PENETRATING) are more likely than closed head injuries (HEAD INJURIES, CLOSED) to be associated with epilepsy. Concussive convulsions are nonepileptic phenomena that occur immediately after head injury and are characterized by tonic and clonic movements. (From Rev Neurol 1998 Feb;26(150):256-261; Sports Med 1998 Feb;25(2):131-6)" [MESH:D004834] synonym: "Concussive Convulsion" EXACT [] synonym: "Concussive Convulsions" EXACT [] synonym: "Early Post-Traumatic Seizure" EXACT [] synonym: "Early Post Traumatic Seizures" EXACT [] synonym: "Impact Seizure" EXACT [] synonym: "Impact Seizures" EXACT [] synonym: "Late Post-Traumatic Seizure" EXACT [] synonym: "Late Post Traumatic Seizures" EXACT [] synonym: "Post-Traumatic Epilepsies" EXACT [] synonym: "Post Traumatic Seizure Disorder" EXACT [] synonym: "Post-Traumatic Seizure Disorders" EXACT [] synonym: "Traumatic Epilepsies" EXACT [] synonym: "Traumatic Epilepsy" EXACT [] xref: MESH:D004834 is_a: DOID:1826 ! epilepsy is_a: DOID:9000998 ! Brain Injuries [Term] id: DOID:9003656 name: Achromatopsia 1 synonym: "Rod monochromacy" EXACT [] synonym: "Rod monochromatism" EXACT [] is_a: DOID:13911 ! achromatopsia [Term] id: DOID:9003657 name: Perennial Allergic Rhinitis def: "Inflammation of the mucous membrane of the nose similar to that found in hay fever except that symptoms persist throughout the year. The causes are usually air-borne allergens, particularly dusts, feathers, molds, animal fur, etc." [MESH:D012221] synonym: "nonseasonal allergic rhinitis" EXACT [] xref: EFO:1001417 xref: MESH:D012221 is_a: DOID:4481 ! allergic rhinitis [Term] id: DOID:9003658 name: Hydropneumothorax def: "A collection of fluid and gas within the pleural cavity. (Dorland, 27th ed)" [MESH:D006872] xref: MESH:D006872 xref: RDO:0005824 is_a: DOID:1532 ! pleural disease [Term] id: DOID:9003659 name: Chromosome Xq13 Duplication Syndrome xref: MIM:301069 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: mtutaj creation_date: 2022-12-06T10:48:26Z [Term] id: DOID:9003660 name: Mitochondrial Dystonia synonym: "maternally-inherited mitochondrial dystonia" EXACT [] synonym: "mitochondrial DNA-related dystonia" EXACT [] synonym: "mtDNA-related dystonia" EXACT [] xref: ORDO:254851 is_a: DOID:543 ! dystonia created_by: rgd creation_date: 2016-06-10T00:00:00Z [Term] id: DOID:9003662 name: Fryns Hofkens Fabry Syndrome alt_id: MIM:191440 synonym: "ulna hypoplasia" EXACT [] synonym: "ulnar hypoplasia" EXACT [] synonym: "upper limb mesomelic dysplasia" EXACT [] xref: MESH:C538069 is_a: DOID:225 ! syndrome is_a: DOID:9004402 ! Congenital Upper Extremity Deformities is_a: DOID:9009006 ! Mesomelic Dysplasia [Term] id: DOID:9003663 name: Dohle Bodies and Leukemia alt_id: MIM:223350 xref: MESH:C565617 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:9003664 name: Salmonella Food Poisoning def: "Poisoning caused by ingestion of food harboring species of SALMONELLA. Conditions of raising, shipping, slaughtering, and marketing of domestic animals contribute to the spread of this bacterium in the food supply." [MESH:D012478] synonym: "Salmonella Food Poisonings" EXACT [] synonym: "Salmonella gastroenteritis" EXACT [] xref: EFO:0007475 xref: MESH:D012478 is_a: DOID:0060859 ! salmonellosis is_a: DOID:9006436 ! Foodborne Diseases [Term] id: DOID:9003665 name: Glycogen Storage Disease XI alt_id: MIM:612933 synonym: "GSD11" EXACT [] synonym: "GSD XI" EXACT [] synonym: "lactate dehydrogenase A deficiency" EXACT [] synonym: "lactate dehydrogenase deficiency type A" EXACT [] xref: MESH:C538133 is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:9003667 name: Wiskott-Aldrich Syndrome, Autosomal Dominant Form alt_id: MIM:600903 xref: MESH:C563431 is_a: DOID:9169 ! Wiskott-Aldrich syndrome [Term] id: DOID:9003668 name: Trichofolliculoma synonym: "Congenital trichofolliculoma" EXACT [] synonym: "Recurrent trichofolliculoma" EXACT [] synonym: "Sebaceous trichofolliculoma" EXACT [] xref: MESH:C536553 xref: RDO:0002169 is_a: DOID:9003929 ! Basal Cell Neoplasms is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9006379 ! Follicular Cyst [Term] id: DOID:9003669 name: Low Back Pain def: "Acute or chronic pain in the lumbar or sacral regions, which may be associated with musculo-ligamentous SPRAINS AND STRAINS; INTERVERTEBRAL DISK DISPLACEMENT; and other conditions." [MESH:D017116] synonym: "Low Back Ache" EXACT [] synonym: "Low Backache" EXACT [] synonym: "Low Back Aches" EXACT [] synonym: "Low Backaches" EXACT [] synonym: "Low Back Pain, Posterior Compartment" EXACT [] synonym: "Low Back Pains" EXACT [] synonym: "Lower Back Pain" EXACT [] synonym: "Lower Back Pains" EXACT [] synonym: "Lumbago" EXACT [] synonym: "Mechanical Low Back Pain" EXACT [] synonym: "Postural Low Back Pain" EXACT [] synonym: "Recurrent Low Back Pain" EXACT [] xref: MESH:D017116 is_a: DOID:9007923 ! Back Pain [Term] id: DOID:9003670 name: acute synovitis def: "This is a connective tissue disease of sudden onset and short duration that results in inflammation of the synovial lining of a joint, causing pain and swelling." [https://www.merriam-webster.com, NCI:C97140] xref: EFO:0008998 is_a: DOID:2703 ! synovitis created_by: slaulede creation_date: 2023-02-03T16:38:01Z [Term] id: DOID:9003671 name: Hypoventilation def: "A reduction in the amount of air entering the pulmonary alveoli." [MESH:D007040] synonym: "Hypoventilations" EXACT [] xref: MESH:D007040 is_a: DOID:11162 ! respiratory failure is_a: DOID:9000575 ! Respiratory Signs and Symptoms [Term] id: DOID:9003672 name: Keratoconus 6 synonym: "KTCN6" EXACT [] xref: MIM:614623 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9003673 name: Sener Syndrome alt_id: MIM:606156 synonym: "frontonasal dysplasia and dilated Virchow-Robin spaces" EXACT [] xref: MESH:C537579 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9007583 ! Cysts is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:936 ! brain disease [Term] id: DOID:9003674 name: Chest Pain def: "Pressure, burning, or numbness in the chest." [MESH:D002637] synonym: "Chest Pains" EXACT [] synonym: "Precordial Catch" EXACT [] synonym: "Precordial Catch Syndrome" EXACT [] synonym: "Texidor's Twinge" EXACT [] synonym: "Texidor Twinge" EXACT [] xref: MESH:D002637 is_a: DOID:9000641 ! Pain [Term] id: DOID:9003675 name: Retinitis Pigmentosa 78 synonym: "RP78" EXACT [] xref: MIM:617433 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9003676 name: Brain Hypoxia-Ischemia def: "A disorder characterized by a reduction of oxygen in the blood combined with reduced blood flow (ISCHEMIA) to the brain from a localized obstruction of a cerebral artery or from systemic hypoperfusion. Prolonged hypoxia-ischemia is associated with ISCHEMIC ATTACK, TRANSIENT; BRAIN INFARCTION; BRAIN EDEMA; COMA; and other conditions." [MESH:D020925] synonym: "Anoxic-Ischemic Encephalopathies" EXACT [] synonym: "Anoxic Ischemic Encephalopathy" EXACT [] synonym: "Brain Anoxia Ischemia" EXACT [] synonym: "Brain Anoxia-Ischemias" EXACT [] synonym: "Brain Hypoxia-Ischemias" EXACT [] synonym: "Brain Ischemia-Anoxias" EXACT [] synonym: "Brain Ischemia-Hypoxias" EXACT [] synonym: "Cerebral Anoxia Ischemia" EXACT [] synonym: "Cerebral Anoxia-Ischemias" EXACT [] synonym: "Cerebral Hypoxia Ischemia" EXACT [] synonym: "Cerebral Hypoxia-Ischemias" EXACT [] synonym: "Cerebral Ischemia-Anoxias" EXACT [] synonym: "Cerebral Ischemia-Hypoxias" EXACT [] synonym: "Hypoxic-Ischemic Encephalopathies" EXACT [] synonym: "Hypoxic Ischemic Encephalopathy" EXACT [] xref: EFO:1000846 xref: MESH:D020925 is_a: DOID:2316 ! brain ischemia is_a: DOID:9004756 ! Brain Hypoxia [Term] id: DOID:9003677 name: Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies alt_id: MIM:607131 synonym: "AGBK" EXACT [] synonym: "Al-Gazali-Bakalinova Syndrome" EXACT [] synonym: "MMEDF" EXACT [] xref: MESH:C564621 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9003678 name: Pyruvate Dehydrogenase E3-Binding Protein Deficiency alt_id: MIM:245349 synonym: "Dihydrolipoyl dehydrogenase" EXACT [] synonym: "Lactic Acidemia due to Defect in Lipoyl-Containing Component X of the Pyruvate Dehydrogenase Complex" EXACT [] synonym: "PDHXD" EXACT [] xref: MESH:C565447 is_a: DOID:3649 ! pyruvate decarboxylase deficiency is_a: DOID:3650 ! lactic acidosis [Term] id: DOID:9003679 name: Keratitis Sicca xref: MESH:C531719 is_a: DOID:12895 ! keratoconjunctivitis sicca [Term] id: DOID:9003680 name: Plasmodium Falciparum Blood Infection Level synonym: "PFBI" EXACT [] synonym: "PLASMODIUM FALCIPARUM PARASITEMIA" EXACT [] xref: MIM:248310 xref: RDO:0008355 is_a: DOID:12365 ! malaria [Term] id: DOID:9003681 name: Primary Ciliary Dyskinesia 52 def: "An autosomal recessive disorder characterized by laterality defects and mild respiratory symptoms due to subtle ciliary beating defects. Caused by homozygous or compound heterozygous mutation in the DAW1 gene on chromosome 2q36." [MIM:620570] synonym: "CILD52" EXACT [] synonym: "primary ciliary dyskinesia 52, with or without situs invertus" EXACT [] xref: MIM:620570 xref: MONDO:0957922 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: tutajm creation_date: 2023-11-10T14:39:45Z [Term] id: DOID:9003683 name: Accessory Pancreas xref: MESH:C536003 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9003684 name: Brachyolmia Type 1, Hobaek Type alt_id: MIM:271530 synonym: "BCYM1A" EXACT [] synonym: "Brachyolmia, recessive Hobaek type" EXACT [] synonym: "Brachyolmia, recessive type of Hobaek" EXACT [] synonym: "Spondylodysplasia with pure brachyolmia" EXACT [] xref: MESH:C537099 xref: ORDO:93301 is_a: DOID:0050690 ! brachyolmia is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9003685 name: Mismatch Repair Cancer Syndrome 4 synonym: "MMRCS4" EXACT [] synonym: "PMS2-RELATED CONDITION" BROAD [] xref: MIM:619101 is_a: DOID:0112182 ! mismatch repair cancer syndrome created_by: mtutaj creation_date: 2020-11-30T11:34:43Z [Term] id: DOID:9003686 name: Singh Chhaparwal Dhanda Syndrome xref: MESH:C537341 is_a: DOID:1059 ! intellectual disability is_a: DOID:11383 ! cryptorchidism is_a: DOID:225 ! syndrome is_a: DOID:540 ! strabismus is_a: DOID:83 ! cataract is_a: DOID:9007661 ! Dwarfism is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:9003687 name: Multisystem Autoimmune Disease with Facial Dysmorphism synonym: "ADMFD" EXACT [] synonym: "syndromic multisystem autoimmune disease" EXACT [] xref: MIM:613385 is_a: DOID:417 ! autoimmune disease is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003688 name: Toxoplasma Chorioretinitis def: "Inflammation of the choroid in which the sensory retina becomes edematous and opaque. The precipitating condition of this ophtalmologic manifestation is toxoplasmosis." [] synonym: "toxoplasmic retinochoroiditis" EXACT [] synonym: "TR" EXACT [] is_a: DOID:8886 ! chorioretinitis [Term] id: DOID:9003689 name: HYPOTONIA, HYPERVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES def: "An autosomal recessive neurodevelopmental syndrome characterized by global developmental delay, poor or absent speech, hypotonia, variable ocular movement and visual abnormalities, and respiratory difficulties, including hypoventilation, and sleep apnea." [MIM:618493] synonym: "HIDEA" EXACT [] xref: MIM:618493 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2019-09-12T15:00:28Z [Term] id: DOID:9003690 name: Carcinoma, Lewis Lung def: "A carcinoma discovered by Dr. Margaret R. Lewis of the Wistar Institute in 1951. This tumor originated spontaneously as a carcinoma of the lung of a C57BL mouse. The tumor does not appear to be grossly hemorrhagic and the majority of the tumor tissue is a semifirm homogeneous mass. (From Cancer Chemother Rep 2 1972 Nov;(3)1:325) It is also called 3LL and LLC and is used as a transplantable malignancy." [MESH:D018827] xref: EFO:1001770 xref: MESH:D018827 is_a: DOID:305 ! carcinoma is_a: DOID:9002170 ! Experimental Neoplasms [Term] id: DOID:9003691 name: Rubivirus Infections def: "Virus diseases caused by the RUBIVIRUS genus, of the family TOGAVIRIDAE." [MESH:D018355] synonym: "Rubivirus Infection" EXACT [] xref: MESH:D018355 xref: RDO:0006511 is_a: DOID:9002987 ! Togaviridae Infections [Term] id: DOID:9003692 name: NEURODEVELOPMENTAL DISORDER WITH DYSTONIA AND SEIZURES def: "This disease is a severe autosomal recessive disorder characterized by hypotonia and dystonic posturing apparent from early infancy. Affected individuals show global developmental delay with inability to walk or speak and have profoundly impaired intellectual development, often with behavioral abnormalities." [MIM:619922] synonym: "NEDDS" EXACT [] xref: MIM:619922 is_a: DOID:1826 ! epilepsy is_a: DOID:543 ! dystonia is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-12-13T12:25:42Z [Term] id: DOID:9003693 name: Multiple Exostoses Type II def: "Hereditary multiple exostoses is an autosomal dominant disorder characterized by multiple exostoses most commonly arising from the juxtaepiphyseal region of the long bones. Multiple hereditary exostoses type II (EXT2) is caused by heterozygous mutation in the gene encoding exostosin-2 (EXT2) on chromosome 11p11. (OMIM)" [] synonym: "EXT2" EXACT [] synonym: "hereditary multiple exostoses 2" EXACT [] synonym: "multiple exostoses type 2" EXACT [] xref: MIM:133701 is_a: DOID:206 ! hereditary multiple exostoses [Term] id: DOID:9003694 name: Cecal Neoplasms alt_id: RDO:0004892 def: "Tumors or cancer of the CECUM." [MESH:D002430] synonym: "cecal neoplasm" EXACT [] xref: EFO:0009255 xref: MESH:D002430 is_a: DOID:1518 ! cecal disease is_a: DOID:9002245 ! Intestinal Neoplasms [Term] id: DOID:9003695 name: Hypercalciuria, Absorptive, 1 alt_id: MIM:607258 synonym: "HCA1" EXACT [] xref: MESH:C564600 is_a: DOID:9001738 ! Hypercalciuria [Term] id: DOID:9003696 name: Spastic Paraplegia, Epilepsy, Mental Retardation alt_id: MIM:182610 synonym: "Spastic Paraplegia, Epilepsy, And Mental Retardation" EXACT [] xref: MESH:C536869 is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:9003698 name: ALAGILLE SYNDROME 1 def: "This disease is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype." [MIM:118450] synonym: "Alagille syndrome due to a JAG1 point mutation" EXACT [] synonym: "ALGS1" EXACT [] xref: MIM:118450 xref: MONDO:0016862 xref: ORDO:261619 is_a: DOID:9245 ! Alagille syndrome created_by: slaulederkind creation_date: 2024-02-08T14:31:22Z [Term] id: DOID:9003699 name: Colloid Cysts of Third Ventricle alt_id: MIM:609363 synonym: "Neuroepithelial cysts of third ventricle" EXACT [] xref: MESH:C535966 is_a: DOID:9003316 ! Colloid Cysts [Term] id: DOID:9003700 name: Tracheobronchomalacia def: "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the TRACHEA and the BRONCHI. This results in a floppy non-rigid airway making patency difficult to maintain." [MESH:D055089] synonym: "Chondromalacia of Trachea and Bronchi" EXACT [] synonym: "Tracheobronchomalacias" EXACT [] xref: GARD:7791 xref: MESH:D055089 is_a: DOID:1176 ! bronchial disease is_a: DOID:1222 ! cartilage disease is_a: DOID:3225 ! tracheal disease is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9003701 name: Intellectual Developmental Disorder with Autism and Dysmorphic Facies def: "An autosomal recessive neurodevelopmental disorder characterized by moderate to severely impaired cognitive development associated with behavioral abnormalities, including autism spectrum disorder. Caused by homozygous mutation in the PDZD8 on chromosome 10q25." [MIM:620021] synonym: "IDDADF" EXACT [] xref: MIM:620021 is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2022-11-14T14:22:32Z [Term] id: DOID:9003702 name: Microcephaly, Corpus Callosum Dysgenesis and Cleft Lip-Palate alt_id: MIM:601420 synonym: "Microcephaly, facial clefting, and preaxial polydactyly" EXACT [] xref: MESH:C537547 is_a: DOID:0050562 ! West syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:674 ! cleft palate is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9296 ! cleft lip is_a: DOID:930 ! orbital disease [Term] id: DOID:9003703 name: Coxa Valga def: "Hip deformity in which the angle between the femoral neck and its shaft is increased. It may be congenital, acquired, or developmental." [MESH:D060906] synonym: "Acquired Coxa Valga" EXACT [] synonym: "acquired coxa valgas" EXACT [] synonym: "Acquired Coxa Valgus" EXACT [] synonym: "Congenital Coxa Valga" EXACT [] synonym: "Congenital Coxa Valgas" EXACT [] synonym: "Congenital Coxa Valgus" EXACT [] synonym: "Coxa Valgas" EXACT [] synonym: "Coxa Valgus" EXACT [] synonym: "Developmental Coxa Valga" EXACT [] synonym: "Developmental Coxa Valgas" EXACT [] synonym: "developmental coxa valgus" EXACT [] xref: MESH:D060906 is_a: DOID:0080001 ! bone disease is_a: DOID:9000308 ! Bone Retroversion [Term] id: DOID:9003704 name: Intellectual Developmental Disorder with Nasal Speech, Dysmorphic Facies, and Variable Skeletal Anomalies def: "A disease characterized by mildly impaired global development, speech delay with nasal speech, and dysmorphic facial features, including high forehead, midface hypoplasia, micrognathia or high-arched palate, hypo/hypertelorism, upslanting palpebral fissures, and thin upper lip." [MIM:618608] synonym: "IDNADFS" EXACT [] xref: EFO:0010630 xref: MIM:618608 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: slaulede creation_date: 2019-11-12T13:42:22Z [Term] id: DOID:9003705 name: Sick Sinus Syndrome 1, Autosomal Recessive alt_id: MIM:608567 synonym: "congenital absence of sinus rhythm" EXACT [] synonym: "FAMILIAL SICK SINUS SYNDROME" EXACT [] synonym: "sick sinus syndrome 1" EXACT [] synonym: "Sick Sinus Syndrome, Congenital" EXACT [] synonym: "Sinus Bradycardia Syndrome, Familial" EXACT [] synonym: "Sinus Node Disease, Familial, Autosomal Recessive" EXACT [] synonym: "SSS1" EXACT [] xref: MESH:C563907 is_a: DOID:13884 ! sick sinus syndrome [Term] id: DOID:9003706 name: Zuska's Disease synonym: "Lactation and squamous metaplasia of lactiferous ducts" EXACT [] synonym: "Lactiferous fistula" EXACT [] synonym: "Zuska disease" EXACT [] xref: MESH:C536730 is_a: DOID:3463 ! breast disease is_a: DOID:9000325 ! Abscess is_a: DOID:9007343 ! Fistula [Term] id: DOID:9003708 name: Hereditary Koilonychia alt_id: RDO:0003063 synonym: "congenital koilonychia" EXACT [] synonym: "familial koilonychia" EXACT [] xref: MESH:C537260 is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9003709 name: Mercury Poisoning def: "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of MERCURY or MERCURY COMPOUNDS." [MESH:D008630] synonym: "Mercury Poisonings" EXACT [] xref: EFO:1001810 xref: MESH:D008630 xref: RDO:0006113 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9003710 name: Autosomal Dominant Intellectual Developmental Disorder 62 synonym: "autosomal dominant mental retardation 62" EXACT [] synonym: "intellectual developmental disorder 62" EXACT [] synonym: "MRD62" EXACT [] xref: MIM:618793 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2020-02-28T11:10:41Z [Term] id: DOID:9003711 name: Steatorrhea alt_id: DOID:10602 def: "A condition that is characterized by chronic fatty DIARRHEA, a result of abnormal DIGESTION and/or INTESTINAL ABSORPTION of FATS." [] synonym: "Fatty stool" EXACT [] xref: MESH:D045602 xref: NCI:C86917 is_a: DOID:5295 ! intestinal disease is_a: DOID:9002984 ! Malabsorption Syndromes created_by: mtutaj creation_date: 2019-11-21T07:31:12Z [Term] id: DOID:9003712 name: MERRF/MELAS Overlap Syndrome def: "A mitochondrial encephalomyopathy which features symptoms of either MERFF or MELAS Syndrome or both." [] is_a: DOID:310 ! MERRF Syndrome is_a: DOID:3687 ! MELAS syndrome [Term] id: DOID:9003713 name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis synonym: "ALSFTD" EXACT [] synonym: "CORTICOBASAL SYNDROME" EXACT [] synonym: "frontotemporal dementia-amyotrophic lateral sclerosis" EXACT [] synonym: "frontotemporal dementia and/or motor neuron disease" EXACT [] synonym: "frontotemporal dementia with motor neuron disease" EXACT [] synonym: "FTDALS" EXACT [] synonym: "FTDMND" EXACT [] xref: MIM:PS105550 is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:9255 ! frontotemporal dementia created_by: mtutaj creation_date: 2019-03-20T00:00:00Z [Term] id: DOID:9003714 name: Implant Capsular Contracture def: "The shrinkage of the foreign body encapsulation scar tissue that forms around artificial implants imbedded in body tissues." [MESH:D057910] xref: MESH:D057910 xref: RDO:0007806 is_a: DOID:9002438 ! Foreign-Body Reaction is_a: DOID:9004294 ! Prosthesis Failure [Term] id: DOID:9003715 name: Leukocyte Nuclear Appendages, Hereditary Prevalence of alt_id: MIM:151500 xref: MESH:C563626 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9003716 name: Vitreoretinopathy with Phalangeal Epiphyseal Dysplasia alt_id: MIM:619248 synonym: "VPED" EXACT [] xref: MESH:C565179 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9003717 name: nonischemic cardiomyopathy def: "This is a form of cardiomyopathy that is are not related to known coronary artery disease." [EFO:0009881] synonym: "NICM" EXACT [] synonym: "non-ischemic cardiomyopathy" EXACT [] xref: EFO:0009881 is_a: DOID:0050700 ! cardiomyopathy created_by: slaulede creation_date: 2023-01-13T10:40:48Z [Term] id: DOID:9003718 name: Marchiafava-Bignami Disease def: "A neurodegenerative condition that is characterized by demyelination or necrosis of the CORPUS CALLOSUM. Symptoms include DEPRESSION; PARANOIA; DEMENTIA; SEIZURES; and ATAXIA which can progress to COMA and death in a few months. Marchiafava-Bignami syndrome is seen often in alcoholics but has been found in non-alcoholics as well." [MESH:D054319] synonym: "Marchiafava Bignami Syndrome" EXACT [] xref: EFO:1001809 xref: MESH:D054319 xref: RDO:0007669 is_a: DOID:3213 ! demyelinating disease is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:9003719 name: Progressive Vitiligo with Mental Retardation and Urethral Duplication alt_id: MIM:277465 xref: MESH:C564739 is_a: DOID:1059 ! intellectual disability is_a: DOID:12306 ! vitiligo is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9003720 name: Myopia 14 alt_id: MIM:610320 synonym: "MYP14" EXACT [] xref: MESH:C565202 is_a: DOID:11830 ! myopia [Term] id: DOID:9003721 name: Wis Heavy-Chain Disease Protein, Human synonym: "gamma 3 heavy-chain disease protein WIS, human" EXACT [] synonym: "myeloma protein Wis, human" EXACT [] synonym: "protein WIS, human" EXACT [] xref: MESH:C483997 xref: RDO:0000006 is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:9003722 name: Bronchial Fistula def: "An abnormal passage or communication between a bronchus and another part of the body." [MESH:D001983] synonym: "Bronchial Fistulas" EXACT [] xref: MESH:D001983 is_a: DOID:1176 ! bronchial disease is_a: DOID:9001952 ! Respiratory Tract Fistula [Term] id: DOID:9003723 name: Vesicoureteral Reflux 8 synonym: "TNXB-RELATED CONDITION" BROAD [] synonym: "VUR8" EXACT [] xref: MIM:615963 is_a: DOID:9620 ! vesicoureteral reflux created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:9003724 name: Granulovacuolar Lobular Myopathy with Electrical Myotonia alt_id: MIM:254950 xref: MESH:C564974 is_a: DOID:0080000 ! muscular disease is_a: DOID:9008993 ! Myotonia [Term] id: DOID:9003725 name: Familial Polythelia alt_id: MIM:163700 synonym: "Accessory Nipples" EXACT [] synonym: "Polymastia" EXACT [] synonym: "Supernumerary Nipples" EXACT [] xref: MESH:C562557 is_a: DOID:3463 ! breast disease [Term] id: DOID:9003726 name: Corneal Hypesthesia, Familial alt_id: MIM:122450 synonym: "Trigeminal anesthesia, familial" EXACT [] xref: MESH:C536440 is_a: DOID:10124 ! corneal disease is_a: DOID:9004369 ! Hypesthesia [Term] id: DOID:9003728 name: Shashi-Pena Syndrome def: "A neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. (OMIM)" [MIM:617190] synonym: "SHAPNS" EXACT [] xref: MIM:617190 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-04-04T00:00:00Z [Term] id: DOID:9003729 name: Pruritic Urticarial Papules Plaques of Pregnancy alt_id: MIM:178995 synonym: "Polymorphic eruption of pregnancy" EXACT [] synonym: "Pruritic Urticarial Papules And Plaques of Pregnancy" EXACT [] synonym: "Pruritic urticarial papules and plaques of pregnancy, familial" EXACT [] xref: MESH:C535817 is_a: DOID:9004702 ! Pregnancy Complications is_a: DOID:9006202 ! Pruritus [Term] id: DOID:9003730 name: Chemical Burns def: "Burns caused by contact with or exposure to CAUSTICS or strong ACIDS." [MESH:D002057] synonym: "caustic injury" EXACT [] synonym: "Chemical Burn" EXACT [] xref: EFO:0009503 xref: MESH:D002057 is_a: DOID:9007730 ! Burns [Term] id: DOID:9003731 name: Martinez Monasterio Pinheiro Syndrome synonym: "Cleft lip-palate-oligodontia-syndactyly-hair alterations" EXACT [] xref: MESH:C536027 is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:9003732 name: Congenital Moderate Neural Deafness alt_id: MIM:221500 xref: MESH:C565640 is_a: DOID:0060140 ! cortical deafness [Term] id: DOID:9003733 name: Congenital Adrenal Hyperplasia due to 21 Hydroxylase Deficiency alt_id: MIM:201910 synonym: "21 alpha hydroxylase deficiency" EXACT [] synonym: "21 hydroxylase deficiency" EXACT [] synonym: "adrenal gland hyperplasia III" EXACT [] synonym: "adrenal hyperplasia III" EXACT [] synonym: "Attenuated congenital adrenal hyperplasia" EXACT [] synonym: "CAH1 HYPERANDROGENISM, NONCLASSIC TYPE, DUE TO 21-HYDROXYLASE DEFICIENCY" NARROW [] synonym: "CARCINOMA, ADRENOCORTICAL, ANDROGEN-SECRETING" NARROW [] synonym: "CLASSIC CONGENITAL ADRENAL HYPERPLASIA DUE TO 21-HYDROXYLASE DEFICIENCY" EXACT [] synonym: "CONGENITAL ADRENAL HYPERPLASIA 1" NARROW [] synonym: "cortisol-producing adenoma" NARROW [] synonym: "CYP21A2-RELATED CONDITION" EXACT [] synonym: "CYP21 deficiency" EXACT [] synonym: "Late-onset congenital adrenal hyperplasia" EXACT [] synonym: "LOCAH" EXACT [] synonym: "NCCAH" EXACT [] synonym: "non classic congenital adrenal hyperplasia" EXACT [] xref: MESH:C535979 xref: NCI:C129302 is_a: DOID:0050811 ! congenital adrenal hyperplasia [Term] id: DOID:9003734 name: Vesicoureteral Reflux 2 alt_id: MIM:610878 synonym: "ROBO2-RELATED CONDITION" EXACT [] synonym: "VUR2" EXACT [] xref: MESH:C567053 is_a: DOID:9620 ! vesicoureteral reflux [Term] id: DOID:9003735 name: Splenic Hypoplasia alt_id: MIM:271400 synonym: "Asplenia" EXACT [] synonym: "Familial Asplenia" EXACT [] synonym: "ICAS" EXACT [] synonym: "Isolated Congenital Asplenia" EXACT [] synonym: "Isolated Congenital Hyposplenia" EXACT [] xref: MESH:C563028 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9003736 name: Central Nervous System Viral Diseases def: "Viral infections of the brain, spinal cord, meninges, or perimeningeal spaces." [MESH:D020805] synonym: "Central Nervous System Viral Infections" EXACT [] synonym: "Viral CNS Infection" EXACT [] synonym: "Viral CNS Infections" EXACT [] xref: MESH:D020805 is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9003737 name: Ascorbic Acid Deficiency def: "A condition due to a dietary deficiency of ascorbic acid (vitamin C), characterized by malaise, lethargy, and weakness. As the disease progresses, joints, muscles, and subcutaneous tissues may become the sites of hemorrhage. Ascorbic acid deficiency frequently develops into SCURVY in young children fed unsupplemented cow's milk exclusively during their first year. It develops also commonly in chronic alcoholism. (Cecil Textbook of Medicine, 19th ed, p1177)" [MESH:D001206] synonym: "Ascorbic Acid Deficiencies" EXACT [] synonym: "Vitamin C Deficiencies" EXACT [] synonym: "Vitamin C Deficiency" EXACT [] xref: EFO:1000822 xref: MESH:D001206 is_a: DOID:9004644 ! Avitaminosis [Term] id: DOID:9003738 name: Familial Vocal Cord Dysfunction alt_id: MIM:150260 alt_id: MIM:308850 synonym: "Gerhardt syndrome" EXACT [] synonym: "laryngeal abductor paralysis" EXACT [] synonym: "Plott syndrome" EXACT [] xref: MESH:C536354 is_a: DOID:9000586 ! Vocal Cord Paralysis [Term] id: DOID:9003739 name: Niemann-Pick Disease Type D alt_id: MIM:257220 synonym: "Niemann Pick's Disease Type D" EXACT [] synonym: "Niemann Pick Disease, Nova Scotian" EXACT [] synonym: "Niemann-Pick Disease, Nova Scotian Type" EXACT [] synonym: "Nova Scotia Niemann Pick Disease (Type D)" EXACT [] synonym: "NPC1-RELATED CONDITION" BROAD [] xref: MESH:C564941 is_a: DOID:14504 ! Niemann-Pick disease [Term] id: DOID:9003740 name: Nerve Injuries def: "Dysfunction of a nerve causally related to a traumatic injury." [] synonym: "nerve injury" EXACT [] is_a: DOID:863 ! nervous system disease is_a: DOID:9001600 ! Wounds and Injuries created_by: slaulederkind creation_date: 2010-08-20T00:00:00Z [Term] id: DOID:9003742 name: Prostate Cancer, Hereditary, 14 alt_id: MIM:611958 synonym: "HPC14" EXACT [] xref: MESH:C567448 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9003743 name: Septic Abortions def: "Any type of abortion, induced or spontaneous, that is associated with infection of the UTERUS and its appendages. It is characterized by FEVER, uterine tenderness, and foul discharge." [MESH:D000031] synonym: "septic abortion" EXACT [] xref: EFO:1001177 xref: MESH:D000031 is_a: DOID:9003281 ! Spontaneous Abortions is_a: DOID:9008808 ! Pregnancy Complications, Infectious [Term] id: DOID:9003744 name: Respiratory Tract Neoplasms def: "New abnormal growth of tissue in the RESPIRATORY SYSTEM." [MESH:D012142] synonym: "respiratory system neoplasm" EXACT [] synonym: "Respiratory Tract Neoplasm" EXACT [] xref: EFO:0003853 xref: MESH:D012142 is_a: DOID:1579 ! respiratory system disease is_a: DOID:9007920 ! Thoracic Neoplasms [Term] id: DOID:9003745 name: Enteropathy-Associated T-Cell Lymphoma def: "A primary peripheral T-cell lymphoma in the gastrointestinal tract, most often in the jejunum, associated with a history of CELIAC DISEASE or other gastrointestinal diseases." [MESH:D058527] synonym: "Enteropathy-Associated T-Cell Lymphomas" EXACT [] synonym: "Small Intestinal Enteropathy-Associated T-Cell Lymphoma" NARROW [] xref: EFO:1000535 xref: MESH:D058527 is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma is_a: DOID:13996 ! small intestine lymphoma [Term] id: DOID:9003747 name: Monophalangy of Great Toe alt_id: MIM:158100 xref: MESH:C563570 is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:9003748 name: Thumb Deformity alt_id: MIM:188100 synonym: "thumb absent or hypoplastic" EXACT [] synonym: "thumb hypoplastic" EXACT [] xref: MESH:C536903 is_a: DOID:9008871 ! Hand Deformities [Term] id: DOID:9003749 name: Sick Sinus Syndrome 2, Autosomal Dominant alt_id: MIM:163800 synonym: "atrial fibrillation with bradyarrhythmia" EXACT [] synonym: "sick sinus syndrome 2" EXACT [] synonym: "SICK SINUS SYNDROME 2 WITH OR WITHOUT CARDIAC NONCOMPACTION AND/OR ASCENDING AORTA DILATION" EXACT [] synonym: "Sinus Bradycardia Syndrome, Familial, Autosomal Dominant" EXACT [] synonym: "Sinus Node Disease, Familial, Autosomal Dominant" EXACT [] synonym: "SSS2" EXACT [] xref: MESH:C563513 is_a: DOID:13884 ! sick sinus syndrome [Term] id: DOID:9003750 name: Tetrasomy 15q26 synonym: "LEVY-SHANSKE SYNDROME" EXACT [] xref: MIM:614846 is_a: DOID:9004060 ! Tetrasomy created_by: mtutaj creation_date: 2022-12-16T12:58:23Z [Term] id: DOID:9003751 name: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM def: "This disease is characterized by delayed motor development, ataxia, severe progressive scoliosis, moderate to severe intellectual disability, and delayed sexual development." [MIM:619761] synonym: "CDIDHH" EXACT [] synonym: "PRDM13-RELATED CONDITION" BROAD [] xref: MIM:619761 is_a: DOID:0060249 ! scoliosis is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2022-03-10T14:30:28Z [Term] id: DOID:9003752 name: Persistent Truncus Arteriosus def: "A congenital anomaly caused by the failed development of TRUNCUS ARTERIOSUS into separate AORTA and PULMONARY ARTERY. It is characterized by a single arterial trunk that forms the outlet for both HEART VENTRICLES and gives rise to the systemic, pulmonary, and coronary arteries. It is always accompanied by a ventricular septal defect." [MESH:D014339] xref: MESH:D014339 xref: NCI:C98880 is_a: DOID:9003362 ! Aortopulmonary Septal Defect [Term] id: DOID:9003753 name: Ureteral Neoplasms def: "Cancer or tumors of the URETER which may cause obstruction leading to hydroureter, HYDRONEPHROSIS, and PYELONEPHRITIS. HEMATURIA is a common symptom." [MESH:D014516] synonym: "Neoplasms of Ureter" EXACT [] synonym: "Ureteral Neoplasm" EXACT [] synonym: "Ureter Neoplasm" EXACT [] synonym: "Ureter Neoplasms" EXACT [] xref: EFO:0003844 xref: MESH:D014516 is_a: DOID:1426 ! ureteral disease is_a: DOID:9004643 ! Urologic Neoplasms [Term] id: DOID:9003754 name: MUSCULAR DYSTROPHY, CONGENITAL, WITH OR WITHOUT SEIZURES def: "This disease is an autosomal recessive disorder characterized by severe muscle hypotonia apparent from birth, as well as developmental delay. Laboratory studies show increased serum creatine kinase and muscle biopsy shows nonspecific dystrophic features." [MIM:620166] synonym: "MYOS" EXACT [] xref: MIM:620166 is_a: DOID:0050557 ! congenital muscular dystrophy created_by: slaulede creation_date: 2023-02-28T17:18:40Z [Term] id: DOID:9003755 name: Diffuse Neurofibrillary Tangles with Calcification def: "A form of presenile DEMENTIA characterized by cortical dementia, NEUROFIBRILLARY TANGLES without SENILE PLAQUES, Fahr's type CALCINOSIS, and ATROPHY in frontotemporal or TEMPORAL LOBE." [MESH:D055956] synonym: "Kosaka Shibayama Disease" EXACT [] xref: MESH:D055956 is_a: DOID:1307 ! dementia is_a: DOID:680 ! tauopathy [Term] id: DOID:9003757 name: Achondrogenesis, Type 4 xref: MESH:C536019 is_a: DOID:4480 ! achondroplasia [Term] id: DOID:9003758 name: Banti's Syndrome synonym: "Banti's disease" EXACT [] synonym: "Idiopathic congestive splenomegaly" EXACT [] synonym: "Idiopathic portal hypertension" EXACT [] xref: GARD:5888 xref: MONDO:0021969 is_a: DOID:10762 ! portal hypertension is_a: DOID:12450 ! pancytopenia is_a: DOID:225 ! syndrome is_a: DOID:5082 ! liver cirrhosis is_a: DOID:9002720 ! Splenomegaly [Term] id: DOID:9003759 name: Cerebral Hemorrhage, Traumatic def: "Bleeding into one or both CEREBRAL HEMISPHERES due to TRAUMA. Hemorrhage may involve any part of the CEREBRAL CORTEX and the BASAL GANGLIA. Depending on the severity of bleeding, clinical features may include SEIZURES; APHASIA; VISION DISORDERS; MOVEMENT DISORDERS; PARALYSIS; and COMA." [MESH:D020202] synonym: "Brain Hemorrhage, Cerebral, Traumatic" EXACT [] synonym: "Traumatic Cerebral Hematoma" EXACT [] synonym: "Traumatic Cerebral Hematomas" EXACT [] synonym: "Traumatic Cerebral Hemorrhages" EXACT [] synonym: "Traumatic Cerebral Intraparenchymal Hematoma" EXACT [] synonym: "Traumatic Cerebral Intraparenchymal Hemorrhage" EXACT [] synonym: "Traumatic Cerebral Parenchymal Hemorrhage" EXACT [] synonym: "Traumatic Intracerebral Hemorrhage" EXACT [] synonym: "Traumatic Intracerebral Hemorrhages" EXACT [] xref: MESH:D020202 xref: RDO:0007342 is_a: DOID:9002676 ! Cerebral Hemorrhage is_a: DOID:9004208 ! Traumatic Brain Hemorrhage [Term] id: DOID:9003760 name: Myalgia def: "Painful sensation in the muscles." [MESH:D063806] synonym: "Muscle Pain" EXACT [] synonym: "Muscle Pains" EXACT [] synonym: "Muscle Soreness" EXACT [] synonym: "Muscle Tenderness" EXACT [] xref: MESH:D063806 is_a: DOID:0080000 ! muscular disease is_a: DOID:9005228 ! Musculoskeletal Pain [Term] id: DOID:9003761 name: Defect in Hydroxylation of Diphenylhydantoin xref: MESH:C565044 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9003762 name: IgG2 Deficiency def: "A dysgammaglobulinemia characterized by a deficiency of IMMUNOGLOBULIN G2." [] synonym: "Igg2 deficiency, selective" EXACT [] synonym: "immunoglobulin IgG2 deficiency" EXACT [] xref: RDO:9001177 is_a: DOID:14176 ! selective IgG deficiency disease created_by: rgd creation_date: 2016-05-19T00:00:00Z [Term] id: DOID:9003763 name: Renal Hypodysplasia/Aplasia 1 def: "This disease falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract (CAKUT)." [] synonym: "HRA" BROAD [] synonym: "RENAL ADYSPLASIA" BROAD [] synonym: "RENAL AGENESIS AND HYPODYSPLASIA" BROAD [] synonym: "RENAL APLASIA" BROAD [] synonym: "RHDA1" EXACT [] xref: MIM:191830 is_a: DOID:14766 ! renal agenesis [Term] id: DOID:9003764 name: Krasnow Qazi Syndrome synonym: "Krasnow Qazi Yermakov syndrome" EXACT [] xref: MESH:C537616 is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract [Term] id: DOID:9003765 name: Complex and Mixed Neoplasms def: "Neoplasms composed of more than one type of neoplastic tissue." [MESH:D018193] xref: MESH:D018193 is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9003766 name: 46, XY Disorders of Sex Development def: "Congenital conditions in individuals with a male karyotype, in which the development of the gonadal or anatomical sex is atypical." [MESH:D058490] synonym: "46,XY DSD" EXACT [] synonym: "Disorder of Sex Development, 46,XY" EXACT [] synonym: "DSD INCOMPLETE VIRILIZATION" NARROW [] synonym: "Male Pseudohermaphroditism" EXACT [] synonym: "Male Pseudohermaphroditisms" EXACT [] xref: MESH:D058490 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:9003767 name: Viral Sexually Transmitted Diseases def: "Viral diseases which are transmitted or propagated by sexual conduct." [MESH:D015229] synonym: "Viral Sexually Transmitted Disease" EXACT [] synonym: "Viral Venereal Disease" EXACT [] synonym: "Viral Venereal Diseases" EXACT [] xref: MESH:D015229 xref: RDO:0005252 is_a: DOID:9004302 ! Sexually Transmitted Diseases [Term] id: DOID:9003768 name: Mirror Movements 4 synonym: "MRMV4" EXACT [] xref: MIM:618264 is_a: DOID:0111153 ! congenital mirror movement disorder is_a: DOID:9008675 ! Dyskinesias created_by: mtutaj creation_date: 2019-02-12T00:00:00Z [Term] id: DOID:9003769 name: Patterson Stevenson Syndrome alt_id: MIM:183700 alt_id: MIM:190605 synonym: "Patterson Stevenson Fontaine syndrome" EXACT [] synonym: "polydactyly of triphalangeal thumb" EXACT [] synonym: "Split-foot deformity with ectrodactyly and mandibulofacial dysostosis" EXACT [] synonym: "Split-Foot Deformity With Mandibulofacial Dysostosis" EXACT [] synonym: "TPT and PSD syndrome" EXACT [] synonym: "TPTPS" EXACT [] synonym: "Triphalangeal Thumb-Polydactyly Syndrome" EXACT [] synonym: "Triphalangeal thumb polysyndactyly syndrome" EXACT [] synonym: "triphalangeal thumb with polysyndactyly" EXACT [] xref: MESH:C536311 is_a: DOID:0060986 ! preaxial polydactyly II is_a: DOID:225 ! syndrome is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:9003770 name: Retrocaval Ureter def: "A rare congenital abnormality resulting in the URETER passing dorsal to and being obstructed by the INFERIOR VENA CAVA." [MESH:D064749] synonym: "Circumcaval Ureter" EXACT [] xref: MESH:D064749 xref: RDO:0015839 is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9003771 name: Acromesomelic Dysplasia, Campailla-Martinelli Type synonym: "mesomelic dwarfism Campailla-Martinelli type" EXACT [] xref: GARD:505 xref: MESH:C535659 is_a: DOID:0080049 ! acromesomelic dysplasia [Term] id: DOID:9003772 name: Congenital Fibrosis of Extraocular Muscles, with Synergistic Divergence alt_id: MIM:609612 synonym: "Congenital Fibrosis Syndrome with Synergistic Divergence" EXACT [] synonym: "External Ophthalmoplegia with Synergistic Divergence" EXACT [] xref: MESH:C566508 xref: ORDO:45358 is_a: DOID:0080143 ! congenital fibrosis of the extraocular muscles [Term] id: DOID:9003773 name: Upper Extremity Deep Vein Thrombosis def: "DEEP VEIN THROMBOSIS of an upper extremity vein (e.g., AXILLARY VEIN; SUBCLAVIAN VEIN; and JUGULAR VEINS). It is associated with mechanical factors (Upper Extremity Deep Vein Thrombosis, Primary) secondary to other anatomic factors (Upper Extremity Deep Vein Thrombosis, Secondary). Symptoms may include sudden onset of pain, warmth, redness, blueness, and swelling in the arm." [MESH:D056824] synonym: "Central Venous Catheter Thrombosis" EXACT [] synonym: "Effort Induced Upper Extremity Deep Vein Thrombosis" EXACT [] synonym: "Effort Related Upper Extremity Deep Vein Thrombosis" EXACT [] synonym: "Exercise Induced Upper Extremity Deep Vein Thrombosis" EXACT [] synonym: "Idiopathic Upper Extremity Deep Vein Thrombosis" EXACT [] synonym: "Paget Schroetter Syndrome" EXACT [] synonym: "Upper Extremity Deep Vein Thrombosis, Primary" EXACT [] synonym: "Upper Extremity Deep Vein Thrombosis, Secondary" EXACT [] xref: MESH:D056824 xref: RDO:0007760 is_a: DOID:9003871 ! Venous Thrombosis [Term] id: DOID:9003774 name: Familial Visceral Neuropathy 2, Autosomal Recessive def: "This disease is characterized by intestinal dysmotility due to aganglionosis or hypoganglionosis of the colon. Patients also exhibit peripheral axonal neuropathy, ptosis, and sensorineural hearing loss." [MIM:619465] synonym: "VSCN2" EXACT [] xref: MIM:619465 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9000473 ! Familial Visceral Neuropathy created_by: slaulede creation_date: 2021-11-02T11:42:02Z [Term] id: DOID:9003775 name: Chromosome 11p Deletion Syndrome alt_id: DOID:9001825 synonym: "11p Deletion Syndrome" EXACT [] synonym: "Chromosome 11, Deletion 11p" EXACT [] synonym: "Deletion 11p" EXACT [] synonym: "Monosomy 11p" EXACT [] xref: MESH:C538293 xref: MESH:C541598 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:9003777 name: Immunodeficiency due to Defect in MAPBP-Interacting Protein alt_id: MIM:610798 xref: MESH:C563663 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9003778 name: Eosinophilic Pustular Folliculitis synonym: "Ofuji's disease" EXACT [] synonym: "Ofuji disease" EXACT [] xref: MESH:C535953 xref: RDO:0001338 is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:4409 ! folliculitis is_a: DOID:9001371 ! Eosinophilia [Term] id: DOID:9003779 name: Vasculitis of the Skin def: "Inflammation of the blood vessels in the skin." [] synonym: "Cutaneous vasculitis" EXACT [] xref: RDO:9001235 is_a: DOID:865 ! vasculitis created_by: rgd creation_date: 2016-08-18T00:00:00Z [Term] id: DOID:9003780 name: Split-Hand/Foot Malformation with Long Bone Deficiency 2 alt_id: MIM:610685 alt_id: RDO:0013910 synonym: "SHFLD2" EXACT [] xref: MESH:C565199 is_a: DOID:0090020 ! split hand-foot malformation is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9003781 name: Ossification of Posterior Longitudinal Ligament def: "A calcification of the posterior longitudinal ligament of the spinal column, usually at the level of the cervical spine. It is often associated with anterior ankylosing hyperostosis." [MESH:D017887] synonym: "Calcification of Posterior Longitudinal Ligament" EXACT [] synonym: "Posterior Longitudinal Ligament Calcification" EXACT [] synonym: "Posterior Longitudinal Ligament Ossification" EXACT [] xref: MESH:D017887 xref: NCI:C84975 is_a: DOID:0060564 ! spinal disease is_a: DOID:9003295 ! Heterotopic Ossification [Term] id: DOID:9003782 name: Transient Tachypnea of the Newborn def: "Abnormal increase in RESPIRATORY RATE in the newborn. It is self-limiting and attributed to the delayed fetal lung fluid clearance often in CAESAREAN SECTION delivery." [MESH:D059245] synonym: "Newborn Transient Tachypnea" EXACT [] synonym: "Newborn Transient Tachypneas" EXACT [] synonym: "Transient Tachypnea of Newborn" EXACT [] xref: MESH:D059245 xref: RDO:0009999 is_a: DOID:12716 ! newborn respiratory distress syndrome is_a: DOID:9008811 ! Tachypnea [Term] id: DOID:9003783 name: Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome alt_id: MIM:246570 synonym: "Fatco syndrome" EXACT [] xref: MESH:C565436 is_a: DOID:0050463 ! campomelic dysplasia is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9003784 name: Uncombable Hair Syndrome 3 synonym: "UHS3" EXACT [] xref: MIM:617252 is_a: DOID:9005997 ! Uncombable Hair Syndrome created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:9003785 name: Fibromuscular Dysplasia alt_id: DOID:9003839 alt_id: MIM:135580 def: "An idiopathic, segmental, nonatheromatous disease of the musculature of arterial walls, leading to STENOSIS of small and medium-sized arteries. There is true proliferation of SMOOTH MUSCLE CELLS and fibrous tissue. Fibromuscular dysplasia lesions are smooth stenosis and occur most often in the renal and carotid arteries. They may also occur in other peripheral arteries of the extremity." [MESH:D005352] synonym: "arterial fibromuscular dysplasia" EXACT [] synonym: "fibromuscular dysplasia of arteries" EXACT [] synonym: "fibromuscular dysplasias" EXACT [] xref: EFO:1000938 xref: MESH:D005352 xref: NCI:C84714 is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:9003786 name: Equine Infectious Anemia def: "Viral disease of horses caused by the equine infectious anemia virus (EIAV; INFECTIOUS ANEMIA VIRUS, EQUINE). It is characterized by intermittent fever, weakness, and anemia. Chronic infection consists of acute episodes with remissions." [MESH:D004859] synonym: "Equine Infectious Anemias" EXACT [] synonym: "Swamp Fever" EXACT [] synonym: "Swamp Fevers" EXACT [] xref: EFO:0007263 xref: MESH:D004859 xref: RDO:0005516 is_a: DOID:9001187 ! Horse Diseases is_a: DOID:9004448 ! Slow Virus Diseases is_a: DOID:9005091 ! Lentivirus Infections [Term] id: DOID:9003787 name: Lipoid Congenital Adrenal Hyperplasia alt_id: MIM:201710 alt_id: RDO:0002781 def: "This disease is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy." [] synonym: "Adrenal hyperplasia 1" EXACT [] synonym: "congenital lipoid hyperplasia of adrenal cortex with male pseudohermaphroditism" EXACT [] synonym: "LCAH" EXACT [] synonym: "LIPOID HYPERPLASIA, CONGENITAL, OF ADRENAL CORTEX WITH MALE PSEUDOHERMAPHRODITISM" EXACT [] synonym: "STAR-RELATED CONDITION" EXACT [] xref: MESH:C537027 is_a: DOID:0050811 ! congenital adrenal hyperplasia is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:9003788 name: Immune Deficiency, Familial Variable alt_id: MIM:146830 xref: MESH:C564136 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9003789 name: Odontochondrodysplasia xref: MIM:PS184260 is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:4154 ! dentinogenesis imperfecta created_by: mtutaj creation_date: 2022-10-11T08:18:18Z [Term] id: DOID:9003790 name: Posttransfusion Purpura alt_id: MIM:173470 synonym: "PEN(a)/PEN(b) ALLOANTIGEN POLYMORPHISM" RELATED [] synonym: "PTP" EXACT [] xref: MESH:C562868 xref: RDO:0012402 is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9005876 ! Thrombocytopenic Purpura [Term] id: DOID:9003791 name: Chromosome 3, Monosomy 3p synonym: "Chromosome 3, deletion 3p" EXACT [] synonym: "Deletion 3p" EXACT [] synonym: "Monosomy 3p" EXACT [] xref: MESH:C536804 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9003793 name: Dupuytren Contracture alt_id: MIM:126900 def: "A fibromatosis of the palmar fascia characterized by thickening and contracture of the fibrous bands on the palmar surfaces of the hand and fingers. It arises most commonly in men between the ages of 30 and 50." [MESH:D004387] synonym: "Dupuytren's Contracture" EXACT [] synonym: "Dupuytren's Disease" EXACT [] synonym: "Dupuytren Disease" EXACT [] synonym: "Dupuytrens Contracture" EXACT [] synonym: "Dupuytrens Disease" EXACT [] synonym: "Palmar Fibromatosis" EXACT [] synonym: "PLANTAR FIBROMAS" NARROW [] synonym: "PLANTAR FIBROMATOSIS, FAMILIAL" NARROW [] xref: EFO:0004229 xref: EFO:1000438 xref: MESH:D004387 is_a: DOID:0050871 ! fibroma is_a: DOID:65 ! connective tissue disease is_a: DOID:9006836 ! Contracture [Term] id: DOID:9003794 name: T Cell Immunodeficiency Primary synonym: "Primary T-Cell Immunodeficiency Disorders" EXACT [] xref: MESH:C536780 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9003795 name: Isolated Osteopoikilosis alt_id: RDO:0012729 xref: MESH:C563484 is_a: DOID:11991 ! Osteopoikilosis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9003796 name: T-Cell OKT4 Deficiency alt_id: MIM:613949 synonym: "OKT4D" EXACT [] synonym: "OKT4 epitope deficiency" EXACT [] synonym: "T4 epitope deficiency" EXACT [] xref: MESH:C566080 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9003797 name: Glaucoma 1, Open Angle, I alt_id: MIM:609745 synonym: "GLC1I" EXACT [] xref: MESH:C565724 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9003798 name: Paine Syndrome alt_id: MIM:311400 synonym: "Microcephaly with spastic diplegia" EXACT [] synonym: "Seemanova Syndrome I" EXACT [] xref: MESH:C538101 is_a: DOID:10907 ! microcephaly is_a: DOID:10965 ! spastic diplegia is_a: DOID:225 ! syndrome [Term] id: DOID:9003799 name: Cataract Microcornea Syndrome xref: MESH:C538287 xref: RDO:0004249 is_a: DOID:10124 ! corneal disease is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract [Term] id: DOID:9003800 name: Yersinia Infections def: "Infections with bacteria of the genus YERSINIA." [MESH:D015009] synonym: "Yersinia Infection" EXACT [] xref: EFO:1001245 xref: MESH:D015009 is_a: DOID:9003491 ! Enterobacteriaceae Infections [Term] id: DOID:9003801 name: Elliptocytosis 3 alt_id: MIM:617948 alt_id: OMIA:001318 synonym: "EL3" EXACT [] synonym: "fatal or near-fatal perinatal hemolytic anemia" RELATED [] synonym: "spectrin Providence" RELATED [] synonym: "Spectrin rouen" RELATED [] synonym: "SPTB-RELATED CONDITION" BROAD [] xref: MESH:C566678 is_a: DOID:2373 ! hereditary elliptocytosis [Term] id: DOID:9003802 name: Dursun Syndrome alt_id: RDO:0015746 synonym: "Pulmonary Arterial Hypertension, Leukopenia, And Atrial Septal Defect" EXACT [] xref: MESH:C567804 is_a: DOID:0112136 ! severe congenital neutropenia 4 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:225 ! syndrome is_a: DOID:6432 ! pulmonary hypertension [Term] id: DOID:9003803 name: Retinitis Pigmentosa, Late-Onset Dominant xref: MESH:C567369 xref: RDO:0015457 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9003805 name: Catalepsy def: "A condition characterized by inactivity, decreased responsiveness to stimuli, and a tendency to maintain an immobile posture. The limbs tend to remain in whatever position they are placed (waxy flexibility). Catalepsy may be associated with PSYCHOTIC DISORDERS (e.g., SCHIZOPHRENIA, CATATONIC), nervous system drug toxicity, and other conditions." [MESH:D002375] synonym: "Anochlesia" EXACT [] synonym: "Anochlesias" EXACT [] synonym: "Catalepsies" EXACT [] synonym: "Cerea Flexibilitas" EXACT [] synonym: "Waxy Flexibilities" EXACT [] synonym: "Waxy Flexibility" EXACT [] xref: EFO:0009845 xref: MESH:D002375 xref: RDO:0005146 is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9003806 name: PHACE Association alt_id: MIM:606519 synonym: "PHACES association" EXACT [] xref: MESH:C537892 is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9002883 ! Aortic Aneurysm, Giant Congenital is_a: DOID:9007908 ! Aortic Coarctation is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9003807 name: Bifid Nose alt_id: MIM:109740 alt_id: MIM:210400 synonym: "Bifid Nose, Autosomal Dominant" EXACT [] synonym: "Bifid Nose, Autosomal Recessive" EXACT [] synonym: "median cleft of nose" EXACT [] synonym: "Median fissure of nose" EXACT [] xref: MESH:C535441 is_a: DOID:2825 ! nose disease [Term] id: DOID:9003808 name: Progressive Myoclonus Epilepsy 12 def: "An autosomal recessive neurologic disorder characterized by onset of tonic-clonic seizures and/or myoclonus in the second decade of life. Caused by homozygous mutation in the SLC7A6OS gene on chromosome 16q22. (OMIM)" [] synonym: "EPM12" EXACT [] synonym: "progressive myoclonic epilepsy 12" EXACT [] xref: MIM:619191 is_a: DOID:891 ! progressive myoclonus epilepsy created_by: mtutaj creation_date: 2021-03-01T14:15:20Z [Term] id: DOID:9003809 name: Isolated Mineralocorticoid Deficiency alt_id: RDO:0015638 xref: MESH:C567596 is_a: DOID:0050811 ! congenital adrenal hyperplasia is_a: DOID:1924 ! hypogonadism [Term] id: DOID:9003810 name: Chromosome 8, Monosomy 8q synonym: "Deletion 8q" EXACT [] synonym: "Monosomy 8q" EXACT [] xref: MESH:C537828 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9003812 name: Ventricular Extrasystoles Perodactyly Robin Sequence alt_id: MIM:192445 synonym: "VENTRICULAR EXTRASYSTOLES WITH SYNCOPE, PERODACTYLY, AND ROBIN SEQUENCE" EXACT [] xref: MESH:C536537 is_a: DOID:1682 ! congenital heart disease is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9003814 name: Neurologic Manifestations def: "Clinical signs and symptoms caused by nervous system injury or dysfunction." [MESH:D009461] synonym: "Focal Neurologic Deficit" EXACT [] synonym: "Focal Neurologic Deficits" EXACT [] synonym: "Neurological Manifestation" EXACT [] synonym: "Neurological Manifestations" EXACT [] synonym: "Neurologic Deficit" EXACT [] synonym: "Neurologic Deficits" EXACT [] synonym: "Neurologic Dysfunction" EXACT [] synonym: "Neurologic Dysfunctions" EXACT [] synonym: "Neurologic Finding" EXACT [] synonym: "Neurologic Findings" EXACT [] synonym: "Neurologic Manifestation" EXACT [] synonym: "Neurologic Sign" EXACT [] synonym: "Neurologic Signs" EXACT [] synonym: "Neurologic Signs and Symptoms" EXACT [] synonym: "Neurologic Symptom" EXACT [] synonym: "Neurologic Symptoms" EXACT [] xref: MESH:D009461 is_a: DOID:863 ! nervous system disease is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9003815 name: Rosselli-Gulienetti Syndrome alt_id: MIM:225000 xref: MESH:C563117 is_a: DOID:11193 ! syndactyly is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:9003816 name: Macrocephaly alt_id: MIM:155350 def: "A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is associated with HYDROCEPHALUS; SUBDURAL EFFUSION; ARACHNOID CYSTS; or is part of a genetic condition (e.g., ALEXANDER DISEASE; SOTOS SYNDROME)." [MESH:D058627] synonym: "Macrocephalies" EXACT [] synonym: "MACROCEPHALY SYNDROME, AUTOSOMAL RECESSIVE" NARROW [] synonym: "Megacephalies" EXACT [] synonym: "Megacephaly" EXACT [] synonym: "Megalencephalies" EXACT [] synonym: "Megalencephaly" EXACT [] synonym: "megalencephaly, autosomal dominant" NARROW [] synonym: "megalencephaly, autosomal recessive" NARROW [] synonym: "MEGALENCEPHALY-POLYDACTYLY SYNDROME" NARROW [] synonym: "Megalocephalies" EXACT [] synonym: "Megalocephaly" EXACT [] xref: MESH:D058627 is_a: DOID:9005611 ! Malformations of Cortical Development, Group I is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003817 name: Sudden Hearing Loss alt_id: RDO:0005310 def: "Sensorineural hearing loss which develops suddenly over a period of hours or a few days. It varies in severity from mild to total deafness. Sudden deafness can be due to head trauma, vascular diseases, infections, or can appear without obvious cause or warning." [MESH:D003639] synonym: "idiopathic sudden sensorineural hearing loss" RELATED [] synonym: "SSHL" EXACT [] synonym: "SSNHL" EXACT [] synonym: "Sudden Deafness" EXACT [] synonym: "sudden sensorineural hearing loss" EXACT [] xref: MESH:D003639 is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:9003818 name: NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES def: "A disease characterized by global developmental delay with impaired intellectual development and speech delay, visual defects, and structural brain abnormalities." [MIM:618547] synonym: "NEDVIBA" EXACT [] xref: MIM:618547 is_a: DOID:5614 ! eye disease is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2019-10-10T17:57:39Z [Term] id: DOID:9003819 name: Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis def: "Group of systemic vasculitis with a strong association with ANCA. The disorders are characterized by necrotizing inflammation of small and medium size vessels, with little or no immune-complex deposits in vessel walls." [MESH:D056648] synonym: "ANCA-Associated Vasculitide" EXACT [] synonym: "ANCA Associated Vasculitides" EXACT [] synonym: "ANCA Associated Vasculitis" EXACT [] synonym: "anti-neutrophil antibody associated vasculitis" EXACT [] synonym: "Pauci-Immune Vasculitides" EXACT [] synonym: "Pauci Immune Vasculitis" EXACT [] xref: EFO:0004826 xref: MESH:D056648 xref: MONDO:0015492 is_a: DOID:417 ! autoimmune disease is_a: DOID:9003199 ! Systemic Vasculitis [Term] id: DOID:9003820 name: Infantile Sialic Storage Disease synonym: "infantile form sialuria" EXACT [] synonym: "infantile form sialurias" EXACT [] synonym: "infantile sialic acid storage disease" EXACT [] synonym: "infantile sialic acid storage disorder" EXACT [] synonym: "infantile sialic acid storage disorder (ISSD)" EXACT [] synonym: "ISSD" EXACT [] synonym: "N-Acetylneuraminic acid storage disease" EXACT [] synonym: "Nana storage disease" EXACT [] xref: MESH:C535525 xref: MIM:269920 is_a: DOID:3659 ! sialuria [Term] id: DOID:9003821 name: Hennekam Lymphangiectasia-Lymphedema Syndrome 1 synonym: "HKLLS1" EXACT [] xref: MIM:235510 is_a: DOID:0060366 ! Hennekam syndrome created_by: mtutaj creation_date: 2019-03-19T14:30:02Z [Term] id: DOID:9003822 name: Ehlers-Danlos syndrome classic-like 3 def: "This disease is an autosomal dominant connective tissue disorder characterized by joint hypermobility and frequent joint dislocations, atrophic scarring, prolonged bleeding time, and age-related aortic dilatation and rupture." [OMIM:620865] synonym: "EDSCLL3" EXACT [] synonym: "EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 3" EXACT [] synonym: "Ehlers-Danlos syndrome classic-like type 3" EXACT [] xref: OMIM:620865 is_a: DOID:13359 ! Ehlers-Danlos syndrome created_by: slaulederkind creation_date: 2024-07-09T12:00:22Z [Term] id: DOID:9003823 name: ENCEPHALOPATHY, PORPHYRIA-RELATED def: "This disease is an autosomal recessive disorder characterized by the onset of progressive neurologic abnormalities in early infancy. Features include global developmental delay, poor walking or inability to walk, impaired intellectual development, hypotonia, ataxia, dysarthria, spasticity, ocular abnormalities, and peripheral neuropathy. Laboratory studies show increased plasma and urinary levels of the putatively neurotoxic porphyrin precursors delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin resulting from deficient HMBS enzymatic activity." [MIM:620704] synonym: "ENCEP" EXACT [] synonym: "porphyria-related encephalopathy" EXACT [] xref: MIM:620704 is_a: DOID:13268 ! porphyria is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn created_by: slaulederkind creation_date: 2024-05-13T17:22:07Z [Term] id: DOID:9003824 name: Infectious Encephalitis def: "Brain inflammation caused by an infectious agent.." [MESH:D000069544] synonym: "Encephalitis Infection" EXACT [] synonym: "Encephalitis Infections" EXACT [] xref: MESH:D000069544 is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:9588 ! encephalitis [Term] id: DOID:9003825 name: Succinic Acidemia alt_id: MIM:600335 xref: MESH:C563952 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9003827 name: Tumor Lysis Syndrome def: "A syndrome resulting from cytotoxic therapy, occurring generally in aggressive, rapidly proliferating lymphoproliferative disorders. It is characterized by combinations of hyperuricemia, lactic acidosis, hyperkalemia, hyperphosphatemia and hypocalcemia." [MESH:D015275] synonym: "Tumor Lysis Syndromes" EXACT [] synonym: "Tumour Lysis Syndrome" EXACT [] synonym: "Tumour Lysis Syndromes" EXACT [] xref: EFO:1001479 xref: MESH:D015275 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9003828 name: Klebsiella Infections def: "Infections with bacteria of the genus KLEBSIELLA." [MESH:D007710] synonym: "Klebsiella Infection" EXACT [] xref: EFO:1001353 xref: MESH:D007710 xref: RDO:0005939 is_a: DOID:9003491 ! Enterobacteriaceae Infections [Term] id: DOID:9003829 name: Familial Acne Inversa 3 synonym: "ACNINV3" EXACT [] xref: MIM:613737 xref: MONDO:0013398 is_a: DOID:9008895 ! Familial Hidradenitis Suppurativa created_by: mtutaj creation_date: 2021-07-16T16:07:26Z [Term] id: DOID:9003830 name: Primary Aldosteronism, Seizures, and Neurologic Abnormalities alt_id: RDO:9000958 synonym: "CACNA1D-RELATED CONDITION" BROAD [] synonym: "CACNA1D-RELATED DISORDER" BROAD [] synonym: "PASNA" EXACT [] xref: MIM:615474 xref: NCI:C188151 is_a: DOID:11832 ! visual epilepsy is_a: DOID:446 ! primary hyperaldosteronism [Term] id: DOID:9003831 name: Mal de Debarquement synonym: "Mal de debarquement syndrome" EXACT [] xref: MESH:C537840 is_a: DOID:2951 ! motion sickness [Term] id: DOID:9003832 name: Dyssegmental Dysplasia with Glaucoma alt_id: MIM:601561 xref: MESH:C563290 is_a: DOID:1686 ! glaucoma is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9003833 name: Keratolytic Winter Erythema alt_id: MIM:148370 synonym: "Erythrokeratolysis hiemalis ichthyosis" EXACT [] synonym: "KWE" EXACT [] synonym: "Oudtshoorn skin" EXACT [] synonym: "OUDTSHOORN SKIN DISEASE" EXACT [] xref: MESH:C536155 xref: RDO:0001617 is_a: DOID:161 ! keratosis is_a: DOID:9006976 ! Erythema is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9003834 name: early onset hypertension def: "This disease is an artery disease characterized by chronic elevated blood pressure in the arteries with early onset relative to normal range for a given population." [DOID:10763, EFO:0004772] synonym: "early onset HTN" EXACT [] synonym: "early onset hyperpiesia" EXACT [] synonym: "early onset hyperpiesis" EXACT [] synonym: "early onset vascular hypertensive disorder" EXACT [] xref: EFO:0004772 is_a: DOID:10763 ! hypertension created_by: slaulede creation_date: 2023-01-10T17:48:35Z [Term] id: DOID:9003835 name: Craniosynostosis 6 def: "A primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability. (OMIM)" [] synonym: "CRS6" EXACT [] xref: MIM:616602 xref: MONDO:0014705 is_a: DOID:2340 ! craniosynostosis created_by: rgd creation_date: 2017-03-01T00:00:00Z [Term] id: DOID:9003836 name: Amyotrophic Lateral Sclerosis with Polyglucosan Bodies alt_id: MIM:205250 xref: MESH:C565955 is_a: DOID:332 ! amyotrophic lateral sclerosis is_a: DOID:891 ! progressive myoclonus epilepsy [Term] id: DOID:9003837 name: Au-Kline Syndrome alt_id: DOID:9002401 def: "AUKS is caused by heterozygous mutation in the HNRNPK gene on chromosome 9q21. (OMIM)" [] synonym: "Au-Kline-Okamoto syndrome" EXACT [] synonym: "AUKS" EXACT [] synonym: "Congenital Hydronephrosis, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation" EXACT [] synonym: "KABUKI-LIKE SYNDROME" EXACT [] synonym: "Okamoto Syndrome" EXACT [] xref: MESH:C565736 xref: MIM:616580 is_a: DOID:1059 ! intellectual disability is_a: DOID:11111 ! hydronephrosis is_a: DOID:674 ! cleft palate is_a: DOID:9001487 ! Facies is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:9003838 name: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 def: "This pigment variation is a phenotype predominantly characterized by red hair and fair skin." [MIM:266300] synonym: "BLOND HAIR/FAIR SKIN" EXACT [] synonym: "HAIR COLOR 2" EXACT [] synonym: "HCL2" EXACT [] synonym: "RED HAIR COLOR" EXACT [] synonym: "RHA" EXACT [] synonym: "RHC" EXACT [] synonym: "SHEP2" EXACT [] xref: MIM:266300 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities created_by: slaulede creation_date: 2021-04-15T12:52:49Z [Term] id: DOID:9003840 name: Recurrent Infections, with Encephalopathy, Hepatic Dysfunction, and Cardiovascular Malformations synonym: "FADD deficiency" EXACT [] synonym: "IMD90" EXACT [] synonym: "immunodeficiency 90 with encephalopathy, functional hyposplenia, and hepatic dysfunction" EXACT [] synonym: "INFECTIONS, RECURRENT, ASSOCIATED WITH ENCEPHALOPATHY, HEPATIC DYSFUNCTION, AND CARDIOVASCULAR MALFORMATIONS" EXACT [] xref: MIM:613759 is_a: DOID:409 ! liver disease is_a: DOID:9002682 ! Cardiovascular Abnormalities is_a: DOID:936 ! brain disease [Term] id: DOID:9003841 name: Acquired Protein C Deficiency xref: MESH:C567164 xref: RDO:0015312 is_a: DOID:3756 ! protein C deficiency [Term] id: DOID:9003842 name: Foot Dermatoses def: "Skin diseases of the foot, general or unspecified." [MESH:D005533] synonym: "Foot Dermatosis" EXACT [] xref: MESH:D005533 is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:9003843 name: Chromosome 1, Monosomy 1q4 synonym: "Deletion 1q4" EXACT [] synonym: "Monosomy 1q4" EXACT [] xref: MESH:C537672 xref: RDO:0003552 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9003844 name: Battered Child Syndrome def: "A clinical condition resulting from repeated physical and psychological injuries inflicted on a child by the parents or caregivers." [MESH:D001497] synonym: "Battered Child Syndromes" EXACT [] synonym: "Nonaccidental Trauma in Children" EXACT [] xref: MESH:D001497 is_a: DOID:225 ! syndrome is_a: DOID:6088 ! acute stress disorder is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9003845 name: Stress Fractures def: "Fractures due to the strain caused by repetitive exercise. They are thought to arise from a combination of MUSCLE FATIGUE and bone failure, and occur in situations where BONE REMODELING predominates over repair. The most common sites of stress fractures are the METATARSUS; FIBULA; TIBIA; and FEMORAL NECK." [MESH:D015775] synonym: "Fatigue Fracture" EXACT [] synonym: "Fatigue Fractures" EXACT [] synonym: "Insufficiency Fracture" EXACT [] synonym: "Insufficiency Fractures" EXACT [] synonym: "March Fracture" EXACT [] synonym: "March Fractures" EXACT [] synonym: "Micro Fracture" EXACT [] synonym: "Microfracture" EXACT [] synonym: "Micro Fractures" EXACT [] synonym: "Microfractures" EXACT [] synonym: "Stress Fracture" EXACT [] xref: MESH:D015775 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9003846 name: Sinoatrial Block def: "Disturbance in the atrial activation that is caused by transient failure of impulse conduction from the SINOATRIAL NODE to the HEART ATRIA. It is characterized by a delayed in heartbeat and pauses between P waves in an ELECTROCARDIOGRAM." [MESH:D012848] synonym: "Sinoatrial Blocks" EXACT [] synonym: "Sinoatrial Exit Block" EXACT [] synonym: "Sinoatrial Exit Blocks" EXACT [] xref: MESH:D012848 is_a: DOID:9003163 ! Heart Block [Term] id: DOID:9003847 name: Mannosidase Deficiency Diseases def: "Diseases caused by the loss of one or more enzymes involved in the hydrolysis of mannoside linkages (MANNOSIDASES). The defects in enzyme activity are primarily associated with genetic mutation of the genes that codes for a particular mannosidase isoenzyme." [MESH:D044904] synonym: "Mannosidase Deficiency Disease" EXACT [] synonym: "Mannosidase Deficiency Syndrome" EXACT [] synonym: "Mannosidase Deficiency Syndromes" EXACT [] synonym: "Mannosidoses" EXACT [] synonym: "Mannosidosis" EXACT [] xref: MESH:D044904 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:9003848 name: Lentiginosis, Centrofacial Neurodysraphic alt_id: MIM:151000 synonym: "Lentiginosis, Touraine Type" EXACT [] xref: MESH:C563630 is_a: DOID:9000319 ! Lentigo [Term] id: DOID:9003849 name: Autosomal Recessive Intellectual Developmental Disorder 80 def: "A disease characterized by global developmental delay with mildly to moderately impaired intellectual development and behavioral abnormalities. Caused by homozygous or compound heterozygous mutation in the CASP2 gene on chromosome 7q35." [MIM:620653] synonym: "intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly" EXACT [] synonym: "MRT80" EXACT [] xref: MIM:620653 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: tutajm creation_date: 2023-12-19T15:49:53Z [Term] id: DOID:9003850 name: Spondyloepiphyseal Dysplasia, Myopia, and Sensorineural Deafness alt_id: MIM:184000 xref: MESH:C566659 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:11830 ! myopia [Term] id: DOID:9003851 name: Prekallikrein Deficiency alt_id: MIM:612423 alt_id: OMIA:000819 def: "This disease is a rare asymptomatic clotting defect characterized by prolongation of activated partial thromboplastin time" [MIM:612423] synonym: "Fletcher Factor Deficiency" EXACT [] synonym: "INHERITED PREKALLIKREIN DEFICIENCY" EXACT [] synonym: "KLKB1-RELATED CONDITION" EXACT [] synonym: "PKKD" EXACT [] synonym: "PKK Deficiency" EXACT [] xref: MESH:C562725 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:9003852 name: periprosthetic osteolysis def: "This is a progressive resorption of bone caused by a host inflammatory response to particulate debris produced by friction between articulating surfaces in an artificial joint." [EFO:0009761] synonym: "EFO:0009761" EXACT [] synonym: "particular wear debris osteolysis" EXACT [] is_a: DOID:9006081 ! Osteolysis created_by: slaulede creation_date: 2023-01-30T10:59:27Z [Term] id: DOID:9003853 name: Giant Cell Tumors def: "Tumors of bone tissue or synovial or other soft tissue characterized by the presence of giant cells. The most common are giant cell tumor of tendon sheath and GIANT CELL TUMOR OF BONE." [MESH:D005870] synonym: "giant cell neoplasm" EXACT [] synonym: "giant cell tumor" EXACT [] synonym: "Giant Cell Tumor of Soft Tissue" NARROW [] synonym: "tumor of the giant cell" EXACT [] xref: EFO:1000281 xref: MESH:D005870 xref: NCI:C3055 xref: NCI:C7069 is_a: DOID:9003944 ! Connective Tissue Neoplasms created_by: mtutaj creation_date: 2020-04-21T08:18:21Z [Term] id: DOID:9003854 name: Cleft Lip with or without Cleft Palate, Nonsyndromic, 7 xref: MESH:C565603 xref: RDO:0014194 is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:9003855 name: Vesicoureteral Reflux 5 synonym: "VUR5" EXACT [] xref: MIM:614318 is_a: DOID:9620 ! vesicoureteral reflux [Term] id: DOID:9003856 name: Kashani Strom Utley Syndrome synonym: "Hypoplastic pulmonary arteries and aorta with obstructive uropathy" EXACT [] synonym: "Pulmonary aortic stenosis obstructive uropathy" EXACT [] xref: MESH:C537010 is_a: DOID:12577 ! urethral obstruction is_a: DOID:225 ! syndrome is_a: DOID:850 ! lung disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003857 name: Central Nervous System Cysts def: "Congenital or acquired cysts of the brain, spinal cord, or meninges which may remain stable in size or undergo progressive enlargement." [MESH:D020863] synonym: "Rathke's Cleft Cysts" EXACT [] synonym: "Rathke Cleft Cysts" EXACT [] synonym: "Rathkes Cleft Cysts" EXACT [] synonym: "Suprasellar Cyst" EXACT [] synonym: "Suprasellar Cysts" EXACT [] xref: EFO:0003760 xref: MESH:D020863 is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9007583 ! Cysts is_a: DOID:9007701 ! Central Nervous System Neoplasms [Term] id: DOID:9003858 name: Environmental Illness def: "A polysymptomatic condition believed by clinical ecologists to result from immune dysregulation induced by common foods, allergens, and chemicals, resulting in various physical and mental disorders. The medical community has remained largely skeptical of the existence of this 'disease', given the plethora of symptoms attributed to environmental illness, the lack of reproducible laboratory abnormalities, and the use of unproven therapies to treat the condition. (From Segen, Dictionary of Modern Medicine, 1992)" [MESH:D018876] synonym: "Environmental Hypersensitivities" EXACT [] synonym: "Environmental Hypersensitivity" EXACT [] synonym: "Environmental Illnesses" EXACT [] xref: MESH:D018876 xref: RDO:0007230 is_a: DOID:1205 ! allergic disease is_a: DOID:9001878 ! Disorders of Environmental Origin [Term] id: DOID:9003859 name: Immune & Inflammatory Diseases def: "Diseases characterized by inflammation or disorders caused by abnormal/absent immunologic mechanisms, whether humoral, cell-mediated, or both." [] is_a: DOID:7 ! disease of anatomical entity created_by: rgd creation_date: 2017-04-18T00:00:00Z [Term] id: DOID:9003860 name: Morbillivirus Infections def: "Infections with viruses of the genus MORBILLIVIRUS, family PARAMYXOVIRIDAE. Infections mainly cause acute disease in their hosts, although in some cases infection is persistent and leads to degenerative conditions." [MESH:D018185] synonym: "Morbillivirus Infection" EXACT [] synonym: "Morbillivirus infectious disease" EXACT [] xref: EFO:0007377 xref: MESH:D018185 xref: RDO:0005381 is_a: DOID:9007244 ! Paramyxoviridae Infections [Term] id: DOID:9003861 name: Krieble Bixler Syndrome synonym: "Autosomal dominant blepharophimosis with multiple congenital anomalies" EXACT [] xref: MESH:C537619 is_a: DOID:10348 ! blepharophimosis is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003862 name: Hypohidrosis with Abnormal Palmar Dermal Ridges alt_id: MIM:241120 synonym: "Hypohidrosis aith Abnormal Palmar Dermal Ridges" RELATED [] synonym: "Sweat Gland Hypoplasia" EXACT [] xref: MESH:C565481 is_a: DOID:11155 ! hypohidrosis is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9003863 name: Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities alt_id: MIM:300719 xref: MESH:C567467 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:12336 ! male infertility is_a: DOID:83 ! cataract is_a: DOID:9008681 ! Deafness [Term] id: DOID:9003864 name: 16Q24.3 Microdeletion Syndrome alt_id: ORPHA:261250 def: "A syndrome associated with variable developmental delay, facial dysmorphism, seizures and autistic spectrum disorder. (Orphanet)" [] xref: RDO:9001300 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008165 ! Chromosome Deletion created_by: rgd creation_date: 2016-12-06T00:00:00Z [Term] id: DOID:9003865 name: Microcephaly, Short Stature, and Polymicrogyria with or without Seizures def: "MSSP is caused by homozygous or compound heterozygous mutation in the RTTN gene on chromosome 18q22. (OMIM)" [] synonym: "microcephaly, short stature, and polymicrogyria with seizures" NARROW [] synonym: "MSSP" EXACT [] synonym: "PMGYS" NARROW [] synonym: "polymicrogyria with seizures" NARROW [] synonym: "RTTN-RELATED CONDITION" EXACT [] xref: MIM:614833 is_a: DOID:0080918 ! polymicrogyria is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9003866 name: Chromosome 1, Monosomy 1q25 q32 synonym: "Deletion 1q25 q32" EXACT [] synonym: "Monosomy 1q25 q32" EXACT [] xref: MESH:C535596 xref: RDO:0000814 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9003867 name: Lymphomatoid Papulosis def: "Clinically benign, histologically malignant, recurrent cutaneous T-cell lymphoproliferative disorder characterized by an infiltration of large atypical cells surrounded by inflammatory cells. The atypical cells resemble REED-STERNBERG CELLS of HODGKIN DISEASE or the malignant cells of CUTANEOUS T-CELL LYMPHOMA. In some cases, lymphomatoid papulosis progresses to lymphomatous conditions including MYCOSIS FUNGOIDES; HODGKIN DISEASE; CUTANEOUS T-CELL LYMPHOMA; or ANAPLASTIC LARGE-CELL LYMPHOMA." [MESH:D017731] synonym: "Lymphomatoid Papuloses" EXACT [] xref: EFO:1000341 xref: MESH:D017731 is_a: DOID:0060061 ! primary cutaneous T-cell non-Hodgkin lymphoma [Term] id: DOID:9003868 name: Diffuse Cutaneous Leishmaniasis def: "A form of LEISHMANIASIS, CUTANEOUS caused by Leishmania aethiopica in Ethiopia and Kenya, L. pifanoi in Venezuela, L. braziliensis in South America, and L. mexicana in Central America. This disease is characterized by massive dissemination of skin lesions without visceral involvement." [MESH:D016774] synonym: "Diffuse Cutaneous Leishmaniases" EXACT [] xref: EFO:1001784 xref: MESH:D016774 is_a: DOID:9111 ! cutaneous leishmaniasis [Term] id: DOID:9003869 name: Melhem Fahl Syndrome synonym: "Fifteen dorsal vertebrae and rib pairs" EXACT [] xref: MESH:C537238 xref: RDO:0003030 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003870 name: Herpes Simplex Encephalitis def: "An acute (or rarely chronic) inflammatory process of the brain caused by SIMPLEXVIRUS infections which may be fatal. The majority of infections are caused by human herpesvirus 1 (HERPESVIRUS 1, HUMAN) and less often by human herpesvirus 2 (HERPESVIRUS 2, HUMAN). Clinical manifestations include FEVER; HEADACHE; SEIZURES; HALLUCINATIONS; behavioral alterations; APHASIA; hemiparesis; and COMA. Pathologically, the condition is marked by a hemorrhagic necrosis involving the medial and inferior TEMPORAL LOBE and orbital regions of the FRONTAL LOBE. (From Adams et al., Principles of Neurology, 6th ed, pp751-4)" [MESH:D020803] synonym: "herpes encephalitis" EXACT [] synonym: "Herpes Simplex Encephalitides" EXACT [] synonym: "Herpes Simplex Meningoencephalitides" EXACT [] synonym: "Herpes Simplex Meningoencephalitis" EXACT [] synonym: "Herpetic Acute Necrotizing Encephalitis" EXACT [] synonym: "Herpetic Encephalitides" EXACT [] synonym: "Herpetic Encephalitis" EXACT [] synonym: "Herpetic Meningoencephalitides" EXACT [] synonym: "Herpetic Meningoencephalitis" EXACT [] synonym: "meningoencephalitis, herpes simplex virus" EXACT [] xref: MESH:D020803 xref: NCI:C84762 is_a: DOID:646 ! viral encephalitis is_a: DOID:8566 ! herpes simplex [Term] id: DOID:9003871 name: Venous Thrombosis def: "The formation or presence of a blood clot (THROMBUS) within a vein." [MESH:D020246] synonym: "deep vein thromboses" EXACT [] synonym: "Deep Vein Thrombosis" EXACT [] synonym: "deep venous thromboses" EXACT [] synonym: "Deep Venous Thrombosis" EXACT [] synonym: "DVT" EXACT [] synonym: "Phlebothromboses" EXACT [] synonym: "phlebothrombosis" EXACT [] synonym: "venous thromboses" EXACT [] synonym: "venous thrombosis, susceptibility to" RELATED [] xref: EFO:0003907 xref: MESH:D020246 xref: NCI:C49343 is_a: DOID:0060903 ! thrombosis is_a: DOID:866 ! vein disease [Term] id: DOID:9003872 name: Alpha-Mannosidosis, Type 2 alt_id: RDO:0002211 alt_id: RDO:0014059 def: "A moderate form recognized before age ten years with presence of skeletal abnormalities, myopathy, and slow progression. It is the most common form. (GARD)" [] synonym: "alpha-mannosidosis, type II" EXACT [] xref: MESH:C536585 xref: MESH:C565418 is_a: DOID:3413 ! alpha-mannosidosis [Term] id: DOID:9003873 name: Gingival Fibromatosis 1 synonym: "GGF1" EXACT [] synonym: "GINGF" EXACT [] synonym: "GINGF1" EXACT [] synonym: "gingival fibromatosis, type 1" EXACT [] synonym: "hereditary gingival fibromatosis 1" EXACT [] synonym: "HGF" EXACT [] synonym: "SOS1-RELATED CONDITION" BROAD [] xref: MESH:C562884 xref: MIM:135300 xref: MONDO:0007609 is_a: DOID:0060466 ! gingival fibromatosis [Term] id: DOID:9003875 name: Bleeding Disorder, East Texas Type alt_id: MIM:605913 synonym: "BDET" EXACT [] xref: MESH:C565275 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:9003876 name: Jaw Diseases def: "Diseases involving the JAW." [MESH:D007571] synonym: "Jaw Disease" EXACT [] xref: EFO:0009468 xref: MESH:D007571 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:9001349 ! Stomatognathic Diseases [Term] id: DOID:9003877 name: Postaxial Polydactyly, Type A6 alt_id: RDO:9000873 synonym: "PAPA6" EXACT [] xref: MIM:615226 is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9003878 name: Parasitic Pregnancy Complications def: "The co-occurrence of pregnancy and parasitic diseases. The parasitic infection may precede or follow FERTILIZATION." [MESH:D015597] synonym: "Parasitic Complications Pregnancies" EXACT [] synonym: "Parasitic Pregnancy Complication" EXACT [] xref: MESH:D015597 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:9008808 ! Pregnancy Complications, Infectious [Term] id: DOID:9003879 name: Vein of Galen Aneurysm synonym: "Ectasia or varix of the vein of Galen" EXACT [] synonym: "Galenic arteriovenous malformation" EXACT [] synonym: "Galen vein aneurysm" EXACT [] synonym: "Vein of Galen aneurysm malformation" EXACT [] synonym: "VGAM" EXACT [] xref: GARD:5467 xref: MESH:C536535 xref: MONDO:0015196 xref: ORDO:1053 is_a: DOID:9007972 ! Vein of Galen Malformations [Term] id: DOID:9003880 name: Primary Bile Acid Malabsorption synonym: "PBAM" EXACT [] xref: MESH:C567652 is_a: DOID:13250 ! diarrhea is_a: DOID:9003711 ! Steatorrhea [Term] id: DOID:9003881 name: Epidermolysis Bullosa Simplex 5C with Pyloric Atresia alt_id: MIM:612138 synonym: "EBS5C" EXACT [] synonym: "EBS-PA" EXACT [] synonym: "EBSPA" EXACT [] synonym: "EBS with pyloric atresia" EXACT [] synonym: "epidermolysis bullosa simplex with pyloric atresia" EXACT [] xref: MESH:C567408 is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:9003882 name: Chromosomal Instability def: "An increased tendency to acquire CHROMOSOME ABERRATIONS when various processes involved in chromosome replication, repair, or segregation are dysfunctional." [MESH:D043171] synonym: "Chromosomal Instabilities" EXACT [] synonym: "Chromosomal Stabilities" EXACT [] synonym: "Chromosomal Stability" EXACT [] synonym: "Chromosome Instabilities" EXACT [] synonym: "Chromosome Instability" EXACT [] synonym: "Chromosome Stabilities" EXACT [] synonym: "Chromosome Stability" EXACT [] xref: MESH:D043171 is_a: DOID:9002981 ! Genomic Instability is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9003884 name: Recombinant Chromosome 8 Syndrome alt_id: MIM:179613 synonym: "CHROMOSOME 8q22.1-qter DUPLICATION AND 8pter-p23.1 DELETION" EXACT [] synonym: "Rec(8) Syndrome" EXACT [] synonym: "REC8 SYNDROME" EXACT [] synonym: "Recombinant 8 Syndrome" EXACT [] synonym: "San Luis Valley recombinant chromosome 8 syndrome" EXACT [] synonym: "San Luis Valley syndrome" EXACT [] xref: MESH:C535296 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome [Term] id: DOID:9003885 name: Singleton-Merten Syndrome 1 def: "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene. (MONDO)" [] synonym: "SGMRT1" EXACT [] xref: MIM:182250 xref: MONDO:0024535 is_a: DOID:9007304 ! Singleton Merten Syndrome created_by: mtutaj creation_date: 2019-03-26T00:00:00Z [Term] id: DOID:9003886 name: Trichodysplasia-Xeroderma alt_id: MIM:190360 xref: MESH:C566032 is_a: DOID:1697 ! ichthyosis is_a: DOID:421 ! hair disease [Term] id: DOID:9003887 name: Long Term Adverse Effects def: "Persistent detrimental effects from treatment for a condition. Included are effects from surgery such as POSTOPERATIVE COMPLICATIONS, and from DRUG THERAPY, such as CHEMICALLY INDUCED DISORDERS, or other THERAPEUTICS. Failure to attain a desired outcome from treatment for the condition is not considered an adverse effect." [MESH:D000069451] xref: MESH:D000069451 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9003888 name: Brachydactyly Type E, with Atrial Septal Defect, Type II alt_id: MIM:113301 xref: MESH:C566193 is_a: DOID:0110107 ! atrial heart septal defect 2 is_a: DOID:9006432 ! Brachydactyly, Type E [Term] id: DOID:9003889 name: Focal Cortical Dysplasia of Taylor, Type IIB synonym: "CDTBC" EXACT [] synonym: "CORTICAL DYSPLASIA OF TAYLOR WITH BALLOON CELLS" EXACT [] synonym: "FCD IIB" EXACT [] synonym: "FCORD2B" EXACT [] synonym: "FOCAL CORTICAL DYSPLASIA, TYPE IIB" EXACT [] is_a: DOID:9008426 ! Focal Cortical Dysplasia of Taylor created_by: mtutaj creation_date: 2019-12-19T13:17:40Z [Term] id: DOID:9003890 name: X-Linked Thrombocytopenia, with or without Dyserythropoietic Anemia alt_id: MIM:300367 alt_id: RDO:0008582 alt_id: RDO:0013462 alt_id: RDO:0013463 synonym: "dyserythropoietic anemia and thrombocytopenia" NARROW [] synonym: "dyserythropoietic anemia with thrombocytopenia" NARROW [] synonym: "Gata1-Related Cytopenia" EXACT [] synonym: "GATA-1-RELATED THROMBOCYTOPENIA WITH DYSERYTHROPOIESIS" NARROW [] synonym: "Gata1-Related X-Linked Cytopenia" EXACT [] synonym: "THROMBOCYTOPENIA, X-LINKED, WITH DYSERYTHROPOIETIC ANEMIA" NARROW [] synonym: "THROMBOCYTOPENIA, X-LINKED, WITHOUT DYSERYTHROPOIETIC ANEMIA" NARROW [] synonym: "X-linked macrothrombocytopenia" EXACT [] synonym: "XLTDA" EXACT [] xref: MESH:C564525 xref: MESH:C564526 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1338 ! congenital dyserythropoietic anemia is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9003891 name: Osteopoikilosis and Dacryocystitis alt_id: MIM:166705 synonym: "Dacryocystitis osteopoikilosis" EXACT [] synonym: "Gunal Seber Basaran syndrome" EXACT [] xref: MESH:C536061 is_a: DOID:11991 ! Osteopoikilosis is_a: DOID:9938 ! dacryocystitis [Term] id: DOID:9003892 name: Mismatch Repair Cancer Syndrome 1 synonym: "brain tumor-polyposis syndrome 1" EXACT [] synonym: "BTP1 syndrome" EXACT [] synonym: "BTPS1" EXACT [] synonym: "MLH1-RELATED CONDITION" BROAD [] synonym: "MMRCS1" EXACT [] xref: MIM:276300 is_a: DOID:0112182 ! mismatch repair cancer syndrome created_by: mtutaj creation_date: 2020-11-30T11:27:02Z [Term] id: DOID:9003893 name: CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE def: "A disease characterized by retinal and neurodevelopmental disease as well as occasional anomalies of glucose homeostasis. Patients exhibit low vision, photophobia, and nystagmus, and show an electronegative waveform in response to bright flash under dark adaptation on electroretinography, with severely reduced and delayed light-adapted responses. Neurodevelopmental features include poor to no language and autistic behaviors." [MIM:618970] synonym: "congenital nonprogressive cone-rod synaptic disorder syndrome" EXACT [] synonym: "CRSDS" EXACT [] xref: MIM:618970 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2020-09-04T18:39:17Z [Term] id: DOID:9003894 name: Angiofollicular Ganglionic Hyperplasia xref: MESH:C536362 xref: RDO:0001922 is_a: DOID:0111157 ! Castleman disease [Term] id: DOID:9003895 name: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 def: "A recessively inherited presenile frontal dementia with leukoencephalopathy and basal ganglia calcification." [MIM:618193] synonym: "PLOSL2" EXACT [] xref: MIM:618193 is_a: DOID:9000412 ! Presenile and Senile Dementia is_a: DOID:9009089 ! Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly created_by: slaulede creation_date: 2018-12-07T14:02:19Z [Term] id: DOID:9003896 name: Polyps def: "Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base." [MESH:D011127] synonym: "Polyp" EXACT [] synonym: "vocal cord polyp" NARROW [] xref: EFO:0000662 xref: EFO:0009478 xref: EFO:1000300 xref: MESH:D011127 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9003897 name: Iris Hypoplasia and Glaucoma alt_id: MIM:308500 synonym: "IHG" EXACT [] synonym: "iris hypoplasia with glaucoma" EXACT [] xref: MESH:C535538 is_a: DOID:1686 ! glaucoma is_a: DOID:240 ! iris disease is_a: DOID:5679 ! retinal disease [Term] id: DOID:9003898 name: Chloramphenicol Toxicity synonym: "chloramphenicol-induced anemia" EXACT [] synonym: "chloramphenicol resistance" RELATED [] xref: MIM:515000 is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions created_by: rgd creation_date: 2015-07-14T00:00:00Z [Term] id: DOID:9003899 name: Thomas Jewett Raines Syndrome xref: MESH:C536513 is_a: DOID:10629 ! microphthalmia is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9003752 ! Persistent Truncus Arteriosus is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003900 name: Keratosis Follicularis, Dwarfism, and Cerebral Atrophy alt_id: MIM:308830 synonym: "Keratosis Follicularis Dwarfism Cerebral Atrophy" EXACT [] xref: MESH:C536158 is_a: DOID:2734 ! keratosis follicularis is_a: DOID:9007661 ! Dwarfism is_a: DOID:936 ! brain disease [Term] id: DOID:9003901 name: Atrial Flutter def: "Rapid, irregular atrial contractions caused by a block of electrical impulse conduction in the right atrium and a reentrant wave front traveling up the inter-atrial septum and down the right atrial free wall or vice versa. Unlike ATRIAL FIBRILLATION which is caused by abnormal impulse generation, typical atrial flutter is caused by abnormal impulse conduction. As in atrial fibrillation, patients with atrial flutter cannot effectively pump blood into the lower chambers of the heart (HEART VENTRICLES)." [MESH:D001282] synonym: "Atrial Flutters" EXACT [] synonym: "Auricular Flutter" EXACT [] synonym: "Auricular Flutters" EXACT [] xref: EFO:0003911 xref: MESH:D001282 xref: MONDO:0005310 xref: NCI:C51224 is_a: DOID:9003484 ! Atrial Tachycardia [Term] id: DOID:9003902 name: Progressive Myoclonus Epilepsy 11 synonym: "EPM11" EXACT [] synonym: "progressive myoclonic epilepsy 11" EXACT [] xref: MIM:618876 is_a: DOID:891 ! progressive myoclonus epilepsy created_by: mtutaj creation_date: 2020-05-13T09:55:18Z [Term] id: DOID:9003904 name: Autosomal Dominant Intellectual Developmental Disorder 69 def: "Characterized by developmental delay with variably impaired intellectual development. Caused by heterozygous mutation in the LMAN2L gene on chromosome 2q11." [MIM:617863] synonym: "autosomal dominant mental retardation 69" EXACT [] synonym: "MRD69" EXACT [] xref: MIM:617863 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2022-07-18T11:17:42Z [Term] id: DOID:9003905 name: Benign Familial Chorea alt_id: MIM:215450 xref: MESH:C565851 is_a: DOID:12859 ! choreatic disease [Term] id: DOID:9003906 name: Nervous System Paraneoplastic Syndromes def: "Degenerative or inflammatory conditions affecting the central or peripheral nervous system that develop in association with a systemic neoplasm without direct invasion by tumor. They may be associated with circulating antibodies that react with the affected neural tissue. (Intern Med 1996 Dec;35(12):925-9)" [MESH:D020361] synonym: "Paraneoplastic Autonomic Dysfunction" EXACT [] synonym: "Paraneoplastic Autonomic Dysfunctions" EXACT [] synonym: "Paraneoplastic Encephalomyelitides" EXACT [] synonym: "Paraneoplastic Encephalomyelitis" EXACT [] synonym: "Paraneoplastic Neurologic Syndrome" EXACT [] synonym: "Paraneoplastic Neurologic Syndromes" EXACT [] xref: MESH:D020361 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9006557 ! Nervous System Neoplasms is_a: DOID:9007199 ! Paraneoplastic Syndromes [Term] id: DOID:9003907 name: Aicardi-Goutieres Syndrome 2 synonym: "AGS2" EXACT [] synonym: "RNASEH2B-RELATED CONDITION" EXACT [] xref: MIM:610181 xref: NCI:C165673 is_a: DOID:0050629 ! Aicardi-Goutieres syndrome created_by: rgd creation_date: 2017-12-14T00:00:00Z [Term] id: DOID:9003908 name: Microcolon alt_id: MIM:251400 xref: MESH:C562563 is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:9003909 name: Immunodeficiency 67 alt_id: MESH:C564352 def: "An autosomal recessive primary immunodeficiency characterized by recurrent severe systemic and invasive bacterial infections beginning in infancy or early childhood. (OMIM)" [] synonym: "IMD67" EXACT [] synonym: "INVASIVE PNEUMOCOCCAL DISEASE, PROTECTION AGAINST" RELATED [] synonym: "INVASIVE PNEUMOCOCCAL DISEASE, RECURRENT ISOLATED" NARROW [] synonym: "Invasive Pneumococcal Disease, Recurrent Isolated, 1" EXACT [] synonym: "IPD1" EXACT [] synonym: "IRAK4D" EXACT [] synonym: "IRAK-4 deficiency" EXACT [] synonym: "IRAK4 deficiency" EXACT [] xref: MIM:607676 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9003910 name: Chromosome 18 Mosaic Monosomy synonym: "Monosomy 18 mosaicism" EXACT [] xref: MESH:C536581 xref: RDO:0002206 is_a: DOID:9004684 ! Monosomy [Term] id: DOID:9003911 name: Aniridia 2 synonym: "AN2" EXACT [] xref: MIM:617141 is_a: DOID:12271 ! aniridia created_by: mtutaj creation_date: 2019-03-26T08:14:06Z [Term] id: DOID:9003912 name: Bundle-Branch Block def: "A form of heart block in which the electrical stimulation of HEART VENTRICLES is interrupted at either one of the branches of BUNDLE OF HIS thus preventing the simultaneous depolarization of the two ventricles." [] synonym: "Anterior Fascicular Block" EXACT [] synonym: "anterior fascicular blocks" EXACT [] synonym: "bundle branch blocks" EXACT [] synonym: "Fascicular Block" EXACT [] synonym: "Fascicular Blocks" EXACT [] synonym: "Left Bundle Branch Block" EXACT [] synonym: "Left Bundle-Branch Blocks" EXACT [] synonym: "posterior fascicular block" EXACT [] synonym: "posterior fascicular blocks" EXACT [] xref: EFO:0004138 xref: MESH:D002037 is_a: DOID:9003163 ! Heart Block [Term] id: DOID:9003913 name: Postoperative Nausea and Vomiting def: "Emesis and queasiness occurring after anesthesia." [MESH:D020250] synonym: "PONV" EXACT [] synonym: "Postoperative Emeses" EXACT [] synonym: "Postoperative Emesis" EXACT [] synonym: "Postoperative Nausea" EXACT [] synonym: "Postoperative Vomiting" EXACT [] xref: EFO:0004888 xref: MESH:D020250 xref: RDO:0007375 is_a: DOID:9000790 ! Postoperative Complications is_a: DOID:9004751 ! Nausea is_a: DOID:9008385 ! Vomiting [Term] id: DOID:9003915 name: Faundes-Banka Syndrome def: "An autosomal dominant disorder characterized by variable combinations of developmental delay and microcephaly, as well as micrognathia and other dysmorphic features. Caused by heterozygous mutation in the EIF5A gene on chromosome 17p13. (OMIM)" [] synonym: "FABAS" EXACT [] xref: MIM:619376 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2021-06-11T12:22:01Z [Term] id: DOID:9003917 name: Combined Immunodeficiency with Autoimmunity and Spondylometaphyseal Dysplasia alt_id: MIM:607944 synonym: "ROIFMAN IMMUNOSKELETAL SYNDROME" EXACT [] synonym: "SPENCD" EXACT [] synonym: "SPENCDI" EXACT [] synonym: "Spondyloenchondrodysplasia with Immune Dysregulation" EXACT [] xref: MESH:C564307 is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:0112295 ! spondylometaphyseal dysplasia is_a: DOID:417 ! autoimmune disease [Term] id: DOID:9003918 name: Forebrain Defects xref: MESH:C566067 xref: RDO:0014538 is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003919 name: Urination Disorders def: "Abnormalities in the process of URINE voiding, including bladder control, frequency of URINATION, as well as the volume and composition of URINE." [MESH:D014555] synonym: "Urination Disorder" EXACT [] xref: MESH:D014555 is_a: DOID:18 ! urinary system disease [Term] id: DOID:9003920 name: Microtia, Hearing Impairment, and Cleft Palate alt_id: MIM:612290 synonym: "MICROTIA WITH OR WITHOUT HEARING IMPAIRMENT" NARROW [] xref: MESH:C567359 xref: RDO:0015450 is_a: DOID:674 ! cleft palate is_a: DOID:9001502 ! Congenital Microtia is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9003921 name: Zinc Deficiency def: "A nutritional condition produced by a deficiency of zinc in the diet. Symptoms include growth and development problems, hair loss, diarrhea, impotence, eye and skin conditions, and loss of appetite. (mayoclinic.org)" [] xref: EFO:1000003 xref: RDO:9001297 is_a: DOID:5113 ! nutritional deficiency disease created_by: rgd creation_date: 2016-11-17T00:00:00Z [Term] id: DOID:9003922 name: Developmental and Epileptic Encephalopathy 113 def: "A disease characterized by severe early-onset recurrent epilepsy, which is worsened by treatment with levetiracetam. Caused by homozygous mutation in the SVA2 gene on chromosome 1q21." [MIM:620772] synonym: "DEE113" EXACT [] xref: MIM:620772 is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: tutajm creation_date: 2024-04-23T09:25:16Z [Term] id: DOID:9003923 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND SPEECH DELAY, WITH OR WITHOUT BRAIN ABNORMALITIES def: "This disease is an autosomal recessive disorder characterized by global developmental delay, hypotonia, delayed or absent walking, impaired intellectual development, and poor or absent speech, apparent from early infancy. Patients have postnatal progressive microcephaly." [MIM:620317] synonym: "NEDMSBA" EXACT [] xref: MIM:620317 is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:92 ! speech disorder created_by: slaulede creation_date: 2023-06-20T09:37:36Z [Term] id: DOID:9003924 name: Asymptomatic Diseases def: "Diseases that do not exhibit symptoms." [MESH:D058070] synonym: "Asymptomatic Condition" EXACT [] synonym: "Asymptomatic Conditions" EXACT [] synonym: "Asymptomatic Disease" EXACT [] synonym: "Asymptomatic State" EXACT [] synonym: "Asymptomatic States" EXACT [] synonym: "Pre-Symptomatic Disease" EXACT [] synonym: "Presymptomatic Disease" EXACT [] synonym: "Pre-Symptomatic Diseases" EXACT [] synonym: "Presymptomatic Diseases" EXACT [] xref: MESH:D058070 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9003926 name: Sandhoff Disease, Infantile Type synonym: "Infantile Sandhoff Disease" EXACT [] is_a: DOID:3323 ! Sandhoff disease [Term] id: DOID:9003927 name: Pointer Syndrome synonym: "Skeletal abnormalities, camptodactyly, facial anomalies, and feeding difficulties" EXACT [] xref: MESH:C536323 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:8670 ! eating disorder is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003928 name: Cytomegalic Inclusion Body Disease xref: MESH:C538505 is_a: DOID:9006262 ! Cytomegalovirus Infections [Term] id: DOID:9003929 name: Basal Cell Neoplasms alt_id: RDO:0002170 def: "Neoplasms composed of cells from the deepest layer of the epidermis. The concept does not refer to neoplasms located in the stratum basale." [MESH:D018295] synonym: "basal cell neoplasm" EXACT [] xref: EFO:1001763 xref: MESH:D018295 is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:9003930 name: Familial Myoclonus 2 synonym: "MYOCL2" EXACT [] xref: MIM:618364 is_a: DOID:9007722 ! Myoclonus created_by: mtutaj creation_date: 2020-01-21T14:27:19Z [Term] id: DOID:9003931 name: Tatsumi Factor Deficiency alt_id: MIM:272650 xref: MESH:C564787 is_a: DOID:9004931 ! Coagulation Protein Disorders [Term] id: DOID:9003932 name: Facial Pain def: "Pain in the facial region including orofacial pain and craniofacial pain. Associated conditions include local inflammatory and neoplastic disorders and neuralgic syndromes involving the trigeminal, facial, and glossopharyngeal nerves. Conditions which feature recurrent or persistent facial pain as the primary manifestation of disease are referred to as FACIAL PAIN SYNDROMES." [MESH:D005157] synonym: "Craniofacial Pain" EXACT [] synonym: "Face Pain" EXACT [] synonym: "Myofacial Pain" EXACT [] synonym: "Neuralgic Facial Pain" EXACT [] synonym: "Orofacial Pain" EXACT [] xref: EFO:0009625 xref: MESH:D005157 is_a: DOID:9000641 ! Pain [Term] id: DOID:9003933 name: Benign Cerebellar Ataxia with Thermoanalgesia alt_id: MIM:212890 synonym: "Cerebellar Ataxia with Loss of Pain and Temperature Sensation" EXACT [] xref: MESH:C565868 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:9008625 ! Somatosensory Disorders [Term] id: DOID:9003934 name: Mehes Syndrome xref: MESH:C536146 is_a: DOID:225 ! syndrome is_a: DOID:540 ! strabismus is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008797 ! Facial Asymmetry [Term] id: DOID:9003935 name: Myokymia def: "Successive and rapid contractions of motor units associated with chronic nerve injury. The discharges arise from the peripheral aspects of regenerating nerves, and clinically impart a nearly continuous undulation of the body surface overlying the muscle. (Adams et al., Principles of Neurology, 6th ed, p1491)" [MESH:D020385] synonym: "Fibrillary Chorea" EXACT [] synonym: "Fibrillary Choreas" EXACT [] synonym: "Generalized Myokymia" EXACT [] synonym: "Generalized Myokymias" EXACT [] synonym: "Kymatism" EXACT [] synonym: "Kymatisms" EXACT [] synonym: "Morvan's Chorea" EXACT [] synonym: "Morvan's Choreas" EXACT [] synonym: "Morvan's Fibrillary Chorea" EXACT [] synonym: "Morvan Chorea" EXACT [] synonym: "Morvan Choreas" EXACT [] synonym: "Morvan Fibrillary Chorea" EXACT [] synonym: "Morvans Chorea" EXACT [] synonym: "Morvans Fibrillary Chorea" EXACT [] synonym: "Myokymias" EXACT [] xref: MESH:D020385 is_a: DOID:9000165 ! Neuromuscular Manifestations [Term] id: DOID:9003936 name: Cardiomegaly def: "Enlargement of the HEART, usually indicated by a cardiothoracic ratio above 0.50. Heart enlargement may involve the right, the left, or both HEART VENTRICLES or HEART ATRIA. Cardiomegaly is a nonspecific symptom seen in patients with chronic systolic heart failure (HEART FAILURE) or several forms of CARDIOMYOPATHIES." [MESH:D006332] synonym: "Cardiac Hypertrophy" EXACT [] synonym: "Enlarged Heart" EXACT [] synonym: "Heart Enlargement" EXACT [] synonym: "Heart Hypertrophy" EXACT [] xref: EFO:0002503 xref: MESH:D006332 is_a: DOID:114 ! heart disease is_a: DOID:9000040 ! Hypertrophy [Term] id: DOID:9003937 name: X Chromosome, Trisomy Xq25 alt_id: MIM:300979 synonym: "chromosome Xq25 duplication syndrome" EXACT [] synonym: "chromosome Xq25 triplication syndrome" NARROW [] synonym: "Duplication Xq25" EXACT [] synonym: "Trisomy Xq25" EXACT [] synonym: "Xq25 duplication syndrome" EXACT [] xref: MESH:C536733 is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9003938 name: Foot Deformities def: "Alterations or deviations from normal shape or size which result in a disfigurement of the foot." [MESH:D005530] synonym: "Foot Deformity" EXACT [] synonym: "Metatarsal Deformities" EXACT [] synonym: "Metatarsal Deformity" EXACT [] xref: MESH:D005530 xref: RDO:0000726 is_a: DOID:17 ! musculoskeletal system disease [Term] id: DOID:9003939 name: BRUNET-WAGNER NEURODEVELOPMENTAL SYNDROME def: "This is an autosomal recessive disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills. Affected individuals have absent language, poor or absent social skills, and behavioral abnormalities." [MIM:619690] synonym: "BRUWAG" EXACT [] xref: MIM:619690 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2022-03-10T13:53:21Z [Term] id: DOID:9003940 name: Larva Migrans def: "Infections caused by nematode larvae which never develop into the adult stage and migrate through various body tissues. They commonly infect the skin, eyes, and viscera in man. Ancylostoma brasiliensis causes cutaneous larva migrans. Toxocara causes visceral larva migrans." [MESH:D007815] synonym: "Creeping Eruption" EXACT [] synonym: "Creeping Eruptions" EXACT [] synonym: "Cutaneous Larva Migrans" EXACT [] synonym: "Dew Itch" EXACT [] synonym: "Dew Itchs" EXACT [] synonym: "Ground Itch" EXACT [] synonym: "Ground Itchs" EXACT [] synonym: "Ocular Larva Migrans" EXACT [] xref: MESH:D007815 is_a: DOID:9002992 ! Nematode Infections is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:9003941 name: Myopia 5 alt_id: MIM:608474 synonym: "MYOPIA 5, AUTOSOMAL DOMINANT" EXACT [] synonym: "MYP5" EXACT [] xref: MESH:C563922 is_a: DOID:11830 ! myopia [Term] id: DOID:9003942 name: Esophageal Ring, Lower alt_id: MIM:133240 xref: MESH:C562765 is_a: DOID:9000123 ! Deglutition Disorders [Term] id: DOID:9003943 name: Diploid-Triploid Mosaicism xref: MESH:C548012 is_a: DOID:9005779 ! Polyploidy [Term] id: DOID:9003944 name: Connective Tissue Neoplasms def: "Neoplasms composed of connective tissue, including elastic, mucous, reticular, osseous, and cartilaginous tissue. The concept does not refer to neoplasms located in connective tissue." [MESH:D009372] synonym: "connective tissue neoplasm" EXACT [] synonym: "neoplasm of connective tissues" EXACT [] synonym: "tumour of connective tissue" EXACT [] xref: MESH:D009372 xref: MONDO:0021581 is_a: DOID:65 ! connective tissue disease is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms [Term] id: DOID:9003945 name: Neurodevelopmental Disorder with Hypotonia, Dysmorphic Facies, and Skin Abnormalities def: "An autosomal recessive disorder characterized by severe global developmental delay with impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facies, including large abnormally shaped ears and strabismus, hypotonia, and dry skin with keratosis pilaris. Caused by homozygous or compound heterozygous mutation in the PGM2L1 gene on chromosome 11q13." [MIM:620191] synonym: "NEDHFS" EXACT [] xref: MIM:620191 is_a: DOID:9001487 ! Facies is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2023-01-16T10:17:48Z [Term] id: DOID:9003946 name: Platelet-Type Bleeding Disorder 21 def: "A hematologic disorder characterized by increased risk of bleeding resulting from a functional platelet defect. (OMIM)" [] synonym: "BDPLT21" EXACT [] synonym: "platelet-type bleeding disorder 21, autosomal recessive" NARROW [] xref: MIM:617443 is_a: DOID:2218 ! blood platelet disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9003947 name: Parasitic Lung Diseases def: "Infections of the lungs with parasites, most commonly by parasitic worms (HELMINTHS)." [MESH:D008174] synonym: "Lung Parasitic Infection" EXACT [] synonym: "Lung Parasitic Infections" EXACT [] synonym: "Parasitic Infections of Lung" EXACT [] synonym: "Parasitic Lung Disease" EXACT [] synonym: "Pulmonary Parasitic Infection" EXACT [] synonym: "Pulmonary Parasitic Infections" EXACT [] xref: MESH:D008174 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:850 ! lung disease is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:9003949 name: Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome synonym: "MDPL" EXACT [] xref: MIM:615381 xref: RDO:9000925 is_a: DOID:225 ! syndrome is_a: DOID:3911 ! progeria is_a: DOID:811 ! lipodystrophy is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9003950 name: Familial Hyperaldosteronism, Type IV synonym: "ALDOSTERONISM, PRIMARY, AND HYPERTENSION" EXACT [] synonym: "CACNA1H-RELATED DISORDER" BROAD [] synonym: "FH IV" EXACT [] synonym: "HALD4" EXACT [] xref: MIM:617027 is_a: DOID:446 ! primary hyperaldosteronism [Term] id: DOID:9003951 name: Auriculoosteodysplasia alt_id: MIM:109000 synonym: "Auriculo-osteodysplasia" EXACT [] synonym: "Multiple osseous dysplasia, characteristic ear shape, and short stature" EXACT [] xref: MESH:C538271 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9003952 name: Verheij Syndrome synonym: "chromosome 8q24.3 deletion syndrome" EXACT [] synonym: "INTELLECTUAL DISABILITY-CARDIAC ANOMALIES-SHORT STATURE-JOINT LAXITY SYNDROME" EXACT [] synonym: "VRJS" EXACT [] xref: MIM:615583 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9003953 name: Surfactant Dysfunction synonym: "Interstitial Lung Disease Due To Surfactant Deficiency" EXACT [] synonym: "Pulmonary Surfactant Metabolism Dysfunction" EXACT [] synonym: "PULMONARY SURFACTANT METABOLISM DYSFUNCTION, RECESSIVE" NARROW [] synonym: "Surfactant Metabolism Deficiency" EXACT [] xref: MESH:C580477 xref: RDO:0015934 is_a: DOID:3082 ! interstitial lung disease [Term] id: DOID:9003954 name: Respiratory Acidosis alt_id: RDO:0004707 def: "Respiratory retention of carbon dioxide. It may be chronic or acute." [MESH:D000142] synonym: "Respiratory Acidoses" EXACT [] xref: MESH:D000142 is_a: DOID:11162 ! respiratory failure is_a: DOID:9002802 ! Acidoses [Term] id: DOID:9003955 name: Chromosome 7, monosomy 7q3 synonym: "Deletion 7q3" EXACT [] synonym: "Monosomy 7q3" EXACT [] xref: MESH:C537817 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9003956 name: Lynch Lee Murday syndrome alt_id: RDO:0003601 synonym: "Caudal appendage, short terminal phalanges, deafness, cryptorchidism and mental retardation" EXACT [] xref: MESH:C537713 is_a: DOID:1059 ! intellectual disability is_a: DOID:11383 ! cryptorchidism is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9003957 name: Chromosome 5, Uniparental Disomy synonym: "Mosaic trisomy of chromosome 5" EXACT [] synonym: "Uniparental disomy of 5" EXACT [] xref: MESH:C537762 xref: RDO:0003660 is_a: DOID:12580 ! Cri-du-Chat syndrome is_a: DOID:9003960 ! Trisomy is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9003958 name: Congenital Muscular Dystrophy with Rapid Progression alt_id: MIM:254100 synonym: "MDRP" EXACT [] xref: MESH:C564983 is_a: DOID:0050557 ! congenital muscular dystrophy [Term] id: DOID:9003959 name: Ventricular Septal Defect 1 synonym: "VSD1" EXACT [] xref: MIM:614429 is_a: DOID:1657 ! ventricular septal defect [Term] id: DOID:9003960 name: Trisomy def: "The possession of a third chromosome of any one type in an otherwise diploid cell." [MESH:D014314] synonym: "Chromosomal Triplication" EXACT [] synonym: "chromosomal triplications" EXACT [] synonym: "Partial Trisomies" EXACT [] synonym: "Partial Trisomy" EXACT [] synonym: "trisomies" EXACT [] xref: MESH:D014314 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9003962 name: Lower Urinary Tract Symptoms def: "Symptoms of disorders of the lower urinary tract including frequency, NOCTURIA; urgency, incomplete voiding, and URINARY INCONTINENCE. They are often associated with OVERACTIVE BLADDER; URINARY INCOMPETENCE; and INTERSTITIAL CYSTITIS. Lower urinary tract symptoms in males were traditionally called PROSTATISM." [MESH:D059411] xref: EFO:0008008 xref: MESH:D059411 is_a: DOID:9007629 ! Urological Manifestations [Term] id: DOID:9003964 name: Reticular Pigmentary Retinal Dystrophy of Posterior Pole xref: MESH:C564844 xref: MIM:267800 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:9003965 name: NEURODEVELOPMENTAL DISORDER WITH INTRACRANIAL HEMORRHAGE, SEIZURES, AND SPASTICITY def: "This disease is an autosomal recessive disorder characterized by prenatal or neonatal onset of intracranial hemorrhage, usually with ventriculomegaly and calcifications, resulting in parenchymal brain damage. Those patients that survive until birth show profound global developmental delay with almost no motor or cognitive skills, hypotonia, spasticity, and seizures. The pathogenesis of the disease likely results from dysfunction of vascular endothelial cells in the brain." [MIM:620371] synonym: "NEDIHSS" EXACT [] xref: MIM:620371 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2023-07-18T13:18:27Z [Term] id: DOID:9003966 name: Anophthalmia Plus Syndrome alt_id: MIM:600776 synonym: "Fryns anophthalmia syndrome" EXACT [] synonym: "Fryns Microphthalmia Syndrome" EXACT [] synonym: "Microphthalmia with Facial Clefting" EXACT [] xref: MESH:C537767 is_a: DOID:225 ! syndrome is_a: DOID:9002049 ! Anophthalmia [Term] id: DOID:9003968 name: Stress-Induced Hypertension def: "High blood pressure associated with physical or emotional stress." [] synonym: "stress hypertension" EXACT [] is_a: DOID:10763 ! hypertension created_by: rgd creation_date: 2015-08-11T00:00:00Z [Term] id: DOID:9003969 name: Peri-Implantitis def: "An inflammatory process with loss of supporting bone in the tissues surrounding functioning DENTAL IMPLANTS." [MESH:D057873] synonym: "Peri-Implantitides" EXACT [] synonym: "Periimplantitides" EXACT [] synonym: "Periimplantitis" EXACT [] xref: EFO:1001390 xref: MESH:D057873 is_a: DOID:3388 ! periodontal disease [Term] id: DOID:9003970 name: Preeclampsia/Eclampsia 1 synonym: "PEE1" EXACT [] synonym: "PREG1" EXACT [] xref: MIM:189800 is_a: DOID:10591 ! pre-eclampsia created_by: mtutaj creation_date: 2019-03-21T15:15:35Z [Term] id: DOID:9003971 name: Postoperative Pain def: "Pain during the period after surgery." [MESH:D010149] synonym: "Postoperative Pains" EXACT [] xref: MESH:D010149 is_a: DOID:9000641 ! Pain is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9003972 name: Human Herpesvirus Type 6, Integrated alt_id: MIM:604474 xref: MESH:C565771 is_a: DOID:9002501 ! Roseolovirus Infections [Term] id: DOID:9003973 name: Childhood-Onset Chorea with Psychomotor Retardation synonym: "COCPMR" EXACT [] xref: MIM:616939 is_a: DOID:12859 ! choreatic disease is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9003974 name: DEEAH Syndrome def: "An autosomal recessive multisystemic disorder with onset in early infancy. The patients have failure to thrive and severely impaired global development with poor acquisition of motor, cognitive, and language skills. Patients also have dysmorphic and myopathic facial features." [MIM:619004] synonym: "DEEAH" EXACT [] synonym: "developmental delay with endocrine, exocrine, autonomic, and hematologic abnormalities" EXACT [] synonym: "MADD-RELATED CONDITION" BROAD [] xref: MIM:619004 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-11-18T14:09:37Z [Term] id: DOID:9003975 name: Garret Tripp Syndrome synonym: "Mental retardation with postaxial polydactyly, congenital absence of hair, severe seborrhoeic dermatitis, and Perthes' disease of the hip" EXACT [] xref: MESH:C535646 is_a: DOID:1059 ! intellectual disability is_a: DOID:1148 ! polydactyly is_a: DOID:14415 ! Legg-Calve-Perthes disease is_a: DOID:225 ! syndrome is_a: DOID:8741 ! seborrheic dermatitis is_a: DOID:987 ! alopecia [Term] id: DOID:9003976 name: Infectious Bovine Rhinotracheitis alt_id: RDO:0005886 def: "A herpesvirus infection of CATTLE characterized by INFLAMMATION and NECROSIS of the mucous membranes of the upper RESPIRATORY TRACT." [MESH:D007241] synonym: "Infectious Bovine Rhinotracheitides" EXACT [] xref: MESH:D007241 is_a: DOID:9002834 ! Herpesviridae Infections is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:9003977 name: Digestive Signs and Symptoms alt_id: RDO:0004763 def: "Digestive system manifestations of diseases of the gastrointestinal system or of other organs." [MESH:D012817] xref: MESH:D012817 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9003978 name: Facio Thoraco Genital Syndrome alt_id: MIM:227320 synonym: "congenital anomalies, involving mainly the face, thorax, and genitalia" EXACT [] synonym: "faciothoracogenital syndrome" EXACT [] xref: MESH:C536387 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9003980 name: Myopathy, Epilepsy, and Progressive Cerebral Atrophy synonym: "MEPCA" EXACT [] xref: MIM:619036 is_a: DOID:1826 ! epilepsy is_a: DOID:423 ! myopathy is_a: DOID:936 ! brain disease created_by: mtutaj creation_date: 2020-10-06T09:55:41Z [Term] id: DOID:9003981 name: Fryns Syndrome alt_id: MIM:229850 synonym: "Diaphragmatic hernia, abnormal face, and distal limb anomalies" EXACT [] synonym: "diaphragmatic hernia-abnormal face-distal limb anomalies syndrome" EXACT [] synonym: "FRNS" EXACT [] synonym: "Moerman Van den berghe Fryns syndrome" EXACT [] xref: GARD:3699 xref: MESH:C538070 xref: NCI:C98932 xref: ORDO:2059 is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9009073 ! Diaphragmatic Hernia [Term] id: DOID:9003982 name: Restless Legs Syndrome 1 alt_id: MIM:102300 synonym: "restless legs syndrome, susceptibility to, 1" RELATED [] synonym: "RLS1" EXACT [] xref: MESH:C538443 is_a: DOID:0050425 ! restless legs syndrome [Term] id: DOID:9003983 name: Cervical Hypertrichosis Neuropathy xref: MESH:C537956 xref: RDO:0003880 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9003984 name: Hyperpigmentation def: "Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance." [MESH:D017495] synonym: "Hypermelanoses" EXACT [] synonym: "Hypermelanosis" EXACT [] xref: EFO:0009047 xref: MESH:D017495 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:9003985 name: Sebaceous Gland Hyperplasia, Familial Presenile xref: MESH:C537530 xref: MIM:601700 xref: MONDO:0011130 is_a: DOID:3134 ! facial dermatosis is_a: DOID:9002221 ! Hyperplasia [Term] id: DOID:9003986 name: FG Syndrome 3 synonym: "FGS3" EXACT [] xref: MIM:300406 is_a: DOID:14711 ! FG syndrome created_by: mtutaj creation_date: 2020-02-17T13:10:39Z [Term] id: DOID:9003987 name: Gastric Polyposis synonym: "Gastric Hamartomatous Polyp" NARROW [] synonym: "Pyloric Gland Adenoma" NARROW [] xref: EFO:1000271 xref: EFO:1000501 xref: MESH:C562464 is_a: DOID:9000217 ! Stomach Neoplasms is_a: DOID:9001441 ! Adenomatous Polyps [Term] id: DOID:9003988 name: Urethral Obstruction Sequence synonym: "Early urethral obstruction sequence" EXACT [] xref: MESH:C536477 is_a: DOID:0060889 ! prune belly syndrome is_a: DOID:11111 ! hydronephrosis is_a: DOID:12215 ! oligohydramnios is_a: DOID:12577 ! urethral obstruction is_a: DOID:341 ! peripheral vascular disease is_a: DOID:9001627 ! Pathologic Constriction [Term] id: DOID:9003989 name: Chromosome 1, Monosomy 1p34 p32 synonym: "Deletion 1p34 p32" EXACT [] synonym: "Monosomy 1p34 p32" EXACT [] xref: MESH:C535595 xref: RDO:0000813 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9003992 name: Familial Pancreatic Lymphoma alt_id: MIM:602596 xref: MESH:C566516 is_a: DOID:1792 ! pancreas lymphoma [Term] id: DOID:9003994 name: PERIPHERAL MOTOR NEUROPATHY, CHILDHOOD-ONSET, BIOTIN-RESPONSIVE def: "This disease is an autosomal recessive disorder characterized predominantly by the onset of distal muscle weakness and atrophy late in the first decade of life. The disorder predominantly affects the upper limbs and hands, resulting in difficulties with fine motor skills. Electrophysiologic studies and muscle biopsy are consistent with chronic denervation with axonal and demyelinating features. Sensation is intact, and patients have normal cognitive development. Treatment with biotin, pantothenic acid, and lipoic acid may result in clinical improvement." [MIM:619903] synonym: "COMNB" EXACT [] xref: MIM:619903 is_a: DOID:2477 ! motor peripheral neuropathy created_by: slaulede creation_date: 2022-08-01T09:54:16Z [Term] id: DOID:9003996 name: Birth Weight def: "The mass or quantity of heaviness of an individual at BIRTH. It is expressed by units of pounds or kilograms." [MESH:D001724] synonym: "Birth Weights" EXACT [] synonym: "Not4Curation" RELATED [] xref: EFO:0004344 xref: MESH:D001724 is_a: DOID:9007633 ! Body Weight [Term] id: DOID:9003997 name: Familial Idiopathic Inflammatory Myopathy alt_id: MIM:160750 alt_id: RDO:0016019 synonym: "Idiopathic myopathy" EXACT [] xref: MESH:C000598744 is_a: DOID:633 ! myositis [Term] id: DOID:9003998 name: Platelet Aggregation, Spontaneous alt_id: MIM:173400 xref: MESH:C566800 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:9003999 name: Femur Fibula Ulna Syndrome alt_id: MIM:228200 synonym: "FFU syndrome" EXACT [] xref: MESH:C537918 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004000 name: Senior-Loken Syndrome 7 synonym: "SDCCAG8-RELATED CONDITION" BROAD [] synonym: "SLSN7" EXACT [] xref: MIM:613615 xref: MONDO:0013326 is_a: DOID:0050576 ! Senior-Loken syndrome is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:9004001 name: Facial Nerve Injuries def: "Traumatic injuries to the facial nerve. This may result in FACIAL PARALYSIS, decreased lacrimation and salivation, and loss of taste sensation in the anterior tongue. The nerve may regenerate and reform its original pattern of innervation, or regenerate aberrantly, resulting in inappropriate lacrimation in response to gustatory stimuli (e.g., 'crocodile tears') and other syndromes." [MESH:D020220] synonym: "Cranial Nerve VII Injuries" EXACT [] synonym: "Facial Nerve Avulsion" EXACT [] synonym: "Facial Nerve Avulsions" EXACT [] synonym: "Facial Nerve Injury" EXACT [] synonym: "Facial Nerve Trauma" EXACT [] synonym: "Facial Nerve Traumas" EXACT [] synonym: "Seventh Cranial Nerve Injuries" EXACT [] synonym: "Traumatic Facial Neuropathies" EXACT [] synonym: "Traumatic Facial Neuropathy" EXACT [] xref: MESH:D020220 xref: RDO:0007357 is_a: DOID:1756 ! facial nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9004002 name: Short QT Syndrome 7 def: "A syndrome characterized by a corrected QT interval of 370 ms or less and a J-point to T-peak less than 140 ms. Caused by heterozygous mutation in the SLC4A3 gene on chromosome 2q35." [MIM:620231] synonym: "SLC4A3-RELATED CONDITION" EXACT [] synonym: "SQT7" EXACT [] xref: MIM:620231 is_a: DOID:0050793 ! short QT syndrome created_by: mtutaj creation_date: 2023-02-02T09:32:47Z [Term] id: DOID:9004003 name: Tooth Demineralization def: "A tooth's loss of minerals, such as calcium in hydroxyapatite from the tooth matrix, caused by acidic exposure. An example of the occurrence of demineralization is in the formation of dental caries." [MESH:D017001] synonym: "Tooth Hypomineralization" EXACT [] synonym: "Tooth Hypomineralizations" EXACT [] xref: MESH:D017001 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9004004 name: Water-Electrolyte Imbalance def: "Disturbances in the body's WATER-ELECTROLYTE BALANCE." [MESH:D014883] synonym: "Water-Electrolyte Imbalances" EXACT [] xref: MESH:D014883 xref: RDO:0005318 is_a: DOID:0014667 ! disease of metabolism [Term] id: DOID:9004005 name: Familial Ossicular Malformations alt_id: MIM:165680 synonym: "Familial middle ear ossicular anomalies" EXACT [] xref: MESH:C537142 is_a: DOID:9002500 ! Hearing Disorders [Term] id: DOID:9004006 name: Chondrodysplasia Punctata, Tibia-Metacarpal Type alt_id: MIM:118651 alt_id: RDO:0012451 synonym: "chondrodysplasia punctata, MT type" EXACT [] xref: MESH:C562961 is_a: DOID:0060293 ! autosomal dominant chondrodysplasia punctata [Term] id: DOID:9004007 name: Nabais Sa-de Vries Syndrome, Type 2 synonym: "NEDMACE" EXACT [] synonym: "neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies" EXACT [] synonym: "NSDVS2" EXACT [] xref: MIM:618829 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2020-05-15T14:46:50Z [Term] id: DOID:9004009 name: Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the tissue (REPERFUSION), including swelling; HEMORRHAGE; NECROSIS; and damage from FREE RADICALS. The most common instance is MYOCARDIAL REPERFUSION INJURY." [MESH:D015427] synonym: "Ischemia-Reperfusion Injuries" EXACT [] synonym: "Ischemia Reperfusion Injury" EXACT [] synonym: "Reperfusion Damage" EXACT [] synonym: "Reperfusion Damages" EXACT [] synonym: "Reperfusion Injuries" EXACT [] xref: EFO:0002687 xref: MESH:D015427 is_a: DOID:0060158 ! acquired metabolic disease is_a: DOID:178 ! vascular disease is_a: DOID:326 ! ischemia is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9004011 name: Autosomal Dominant Intellectual Developmental Disorder 71 def: "A neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development, caused by heterozygous mutation in the RFX7 gene on chromosome 15q21." [MIM:620330] synonym: "Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities" EXACT [] synonym: "MRD71" EXACT [] xref: MIM:620330 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2023-04-21T09:20:19Z [Term] id: DOID:9004012 name: Nervous System Lead Poisoning, Adult def: "Neurologic conditions in adults associated with acute or chronic exposure to lead or any of its salts. The most common lead related neurologic syndrome in adults consists of a polyneuropathy involving motor fibers. This tends to affect distal nerves and may present as wrist drop due to RADIAL NEUROPATHY. Additional features of chronic lead exposure include ANEMIA; CONSTIPATION; colicky abdominal pain; a bluish lead line of the gums; interstitial nephritis (NEPHRITIS, INTERSTITIAL); and saturnine gout. An encephalopathy may rarely occur. (From Adams et al., Principles of Neurology, 6th ed, p1212)" [MESH:D020265] synonym: "Adult Neurologic Saturnism" EXACT [] synonym: "Lead Induced Nervous System Diseases, Adult" EXACT [] synonym: "Lead-Induced Polyneuropathies" EXACT [] synonym: "Lead Induced Polyneuropathy" EXACT [] synonym: "Lead Polyneuropathy" EXACT [] synonym: "Nervous System Toxicity, Lead, Adult" EXACT [] synonym: "Neurologic Lead Poisoning, Adult" EXACT [] synonym: "Neurologic Plumbism, Adult" EXACT [] synonym: "Neurotoxicity Syndrome, Lead, Adult" EXACT [] xref: MESH:D020265 is_a: DOID:9007159 ! Nervous System Lead Poisoning [Term] id: DOID:9004013 name: Aplasia or Hypoplasia of Breasts and/or Nipples 1 alt_id: MIM:113700 synonym: "BNAH1" EXACT [] xref: MESH:C535565 is_a: DOID:9000865 ! Amastia [Term] id: DOID:9004014 name: Adducted Thumbs Syndrome alt_id: MIM:201550 alt_id: MIM:314100 synonym: "congenital clasped thumbs" EXACT [] xref: MESH:C562949 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004015 name: Stevenson-Carey Syndrome alt_id: MIM:611961 xref: MESH:C567446 is_a: DOID:1059 ! intellectual disability is_a: DOID:2786 ! cerebellar disease is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004016 name: Wiskott-Aldrich Syndrome 2 synonym: "WAS2" EXACT [] synonym: "WIPF1 DEFICIENCY" EXACT [] xref: MIM:614493 xref: RDO:9000858 is_a: DOID:9169 ! Wiskott-Aldrich syndrome [Term] id: DOID:9004017 name: Chronic Hepatitis C def: "INFLAMMATION of the LIVER in humans that is caused by HEPATITIS C VIRUS lasting six months or more. Chronic hepatitis C can lead to LIVER CIRRHOSIS." [MESH:D019698] xref: EFO:0004220 xref: MESH:D019698 is_a: DOID:1883 ! hepatitis C is_a: DOID:9008510 ! Chronic Hepatitis [Term] id: DOID:9004018 name: Paraquat Lung synonym: "Paraquat induced lung disease" EXACT [] xref: MESH:C537171 is_a: DOID:11396 ! pulmonary edema [Term] id: DOID:9004019 name: Panostotic Fibrous Dysplasia xref: MESH:C537164 is_a: DOID:4971 ! myelofibrosis is_a: DOID:9002278 ! Metabolic Bone Diseases is_a: DOID:9008267 ! Fibrous Dysplasia of Bone [Term] id: DOID:9004020 name: Epidermodysplasia Verruciformis 1 synonym: "epidermodysplasia verruciformis, susceptibility to, 1" RELATED [] synonym: "EV1" EXACT [] synonym: "TMC6-RELATED CONDITION" EXACT [] xref: MIM:226400 is_a: DOID:13777 ! epidermodysplasia verruciformis created_by: mtutaj creation_date: 2020-02-14T15:52:36Z [Term] id: DOID:9004021 name: Corneal Dystrophy, Fuchs Endothelial, 5 alt_id: MIM:613269 synonym: "FCD3 locus" EXACT [] synonym: "FECD5" EXACT [] synonym: "Fuchs endothelial corneal dystrophy, late-onset" EXACT [] xref: MESH:C567676 is_a: DOID:11555 ! Fuchs' endothelial dystrophy [Term] id: DOID:9004023 name: Jagell Holmgren Hofer Syndrome alt_id: MIM:242510 synonym: "ichthyosis alopecia eclabion ectropion mental retardation" EXACT [] synonym: "ichthyosis with alopecia, eclabion, ectropion, and mental retardation" EXACT [] xref: MESH:C537364 is_a: DOID:1059 ! intellectual disability is_a: DOID:1570 ! ectropion is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:987 ! alopecia [Term] id: DOID:9004024 name: Chromosome 1, Monosomy 1q32 q42 synonym: "Deletion 1q32 q42" EXACT [] synonym: "Monosomy 1q32 q42" EXACT [] xref: MESH:C537671 xref: RDO:0003551 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9004026 name: Dilated Cardiomyopathy with Woolly Hair, Keratoderma, and Tooth Agenesis synonym: "DCWHKTA" EXACT [] synonym: "dilated cardiomyopathy with woolly hair, palmoplantar keratoderma, and tooth agenesis" EXACT [] xref: MIM:615821 is_a: DOID:0090128 ! Carvajal syndrome is_a: DOID:13714 ! anodontia is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9004027 name: SUNCT Syndrome def: "A primary headache disorder that is characterized by frequent short-lasting, unilateral, neuralgiform pain attacks in the ocular area, with CONJUNCTIVA fluid-filling and tearing. SUNCT syndrome is usually resistant to treatment." [MESH:D050798] synonym: "SUNCT Syndromes" EXACT [] xref: MESH:D050798 is_a: DOID:225 ! syndrome is_a: DOID:9006338 ! Trigeminal Autonomic Cephalalgias [Term] id: DOID:9004028 name: Alice in Wonderland Syndrome def: "Neurological condition characterized by disturbances in VISUAL PERCEPTION, most often of BODY SCHEMA, TIME PERCEPTION and HALLUCINATIONS. It is associated with MIGRAINE, infections (e.g., INFECTIOUS MONONUCLEOSIS), FEVER, EPILEPSY, and other neurological and psychiatric disorders." [MESH:D062026] xref: MESH:D062026 is_a: DOID:225 ! syndrome is_a: DOID:6364 ! migraine is_a: DOID:9000343 ! Vision Disorders is_a: DOID:9004523 ! Perceptual Disorders [Term] id: DOID:9004029 name: Peroxisome Biogenesis Disorder, Complementation Group 9 xref: MESH:C566387 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9004030 name: Pituitary Stalk Interruption Syndrome def: "Pituitary stalk interruption syndrome (PSIS) is a congenital abnormality of the pituitary that is responsible for pituitary deficiency and is usually characterized by the triad of a very thin or interrupted pituitary stalk, an ectopic (or absent) posterior pituitary (EPP) and hypoplasia or aplasia of the anterior pituitary visible on MRI. (MedGen)" [] synonym: "Ectopic neurohypophysis" NARROW [] synonym: "EPP" NARROW [] synonym: "PSIS" EXACT [] is_a: DOID:225 ! syndrome is_a: DOID:53 ! pituitary gland disease created_by: rgd creation_date: 2016-01-14T00:00:00Z [Term] id: DOID:9004031 name: Anomalous Coracoclavicular Joint alt_id: MIM:121350 xref: MESH:C565161 is_a: DOID:381 ! arthropathy [Term] id: DOID:9004032 name: HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT synonym: "DNAJC12-RELATED CONDITION" EXACT [] synonym: "HPANBH4" EXACT [] xref: MIM:617384 xref: NCI:C159654 is_a: DOID:9281 ! phenylketonuria [Term] id: DOID:9004033 name: Distal Myopathy 6 synonym: "adult onset distal myopathy 6" EXACT [] synonym: "autosomal dominant adult-onset distal myopathy 6" EXACT [] synonym: "MPD6" EXACT [] xref: MIM:618655 xref: MONDO:0032853 is_a: DOID:11720 ! distal myopathy created_by: mtutaj creation_date: 2019-11-11T09:13:46Z [Term] id: DOID:9004034 name: Alacrima xref: MESH:C562827 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9004035 name: Segawa Syndrome, Autosomal Recessive alt_id: MIM:605407 synonym: "Dopa-Responsive Dystonia, Autosomal Recessive" EXACT [] synonym: "Dystonia, Dopa-Responsive, With Or Without Hyperphenylalaninemia, Autosomal Recessive" EXACT [] synonym: "infantile parkinsonism, autosomal recessive" EXACT [] synonym: "Th-Deficient Drd" EXACT [] synonym: "tyrosine hydroxylase deficiency" EXACT [] xref: MESH:C537537 xref: NCI:C157158 is_a: DOID:543 ! dystonia [Term] id: DOID:9004036 name: Superinfection def: "A frequent complication of drug therapy for microbial infection. It may result from opportunistic colonization following immunosuppression by the primary pathogen and can be influenced by the time interval between infections, microbial physiology, or host resistance. Experimental challenge and in vitro models are sometimes used in virulence and infectivity studies." [MESH:D015163] synonym: "Microbial Superinvasion" EXACT [] synonym: "Microbial Superinvasions" EXACT [] synonym: "Superinfections" EXACT [] xref: MESH:D015163 is_a: DOID:9002002 ! Opportunistic Infections [Term] id: DOID:9004037 name: Hemangiomas of Small Intestine alt_id: MIM:140900 xref: MESH:C564201 is_a: DOID:255 ! hemangioma is_a: DOID:9002245 ! Intestinal Neoplasms [Term] id: DOID:9004038 name: Kashin-Beck Disease def: "Disabling osteochondrodysplasia with OSTEOSCLEROSIS, cone-shaped METAPHYSIS, and shortening of the DIAPHYSIS. It is endemic in parts of Siberia and northern China. Mineral deficiencies (e.g., selenium, iodine), fungal cereal contamination, and water contamination may be contributing factors in its etiology." [MESH:D057767] xref: EFO:0006511 xref: MESH:D057767 xref: RDO:0007791 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9004039 name: Marfan Syndrome Type 2 synonym: "Marfan like connective tissue disorder" EXACT [] is_a: DOID:14323 ! Marfan syndrome [Term] id: DOID:9004040 name: Parasomnias def: "Movements or behaviors associated with sleep, sleep stages, or partial arousals from sleep that may impair sleep maintenance. Parasomnias are generally divided into four groups: arousal disorders, sleep-wake transition disorders, parasomnias of REM sleep, and nonspecific parasomnias. (From Thorpy, Sleep Disorders Medicine, 1994, p191)" [MESH:D020447] synonym: "Benign Neonatal Sleep Myoclonus" EXACT [] synonym: "Parasomnia" EXACT [] synonym: "Sleep Drunkenness" EXACT [] synonym: "Sleep Drunkennesses" EXACT [] synonym: "Sleep Related Abnormal Swallowing Syndrome" EXACT [] synonym: "Sleep Sensory Paroxysm" EXACT [] synonym: "Sleep Sensory Paroxysms" EXACT [] xref: MESH:D020447 is_a: DOID:535 ! sleep disorder [Term] id: DOID:9004041 name: Mucolipidosis III Alpha Beta, Atypical xref: MESH:C567099 is_a: DOID:0080071 ! mucolipidosis III alpha/beta [Term] id: DOID:9004042 name: Olfaction Disorders def: "Loss of or impaired ability to smell. This may be caused by OLFACTORY NERVE DISEASES; PARANASAL SINUS DISEASES; viral RESPIRATORY TRACT INFECTIONS; CRANIOCEREBRAL TRAUMA; SMOKING; and other conditions." [MESH:D000857] synonym: "Anosmia" EXACT [] synonym: "Cacosmia" EXACT [] synonym: "Cacosmias" EXACT [] synonym: "Dysosmia" EXACT [] synonym: "Dysosmias" EXACT [] synonym: "Olfaction Disorder" EXACT [] synonym: "Paraosmia" EXACT [] synonym: "Paraosmias" EXACT [] synonym: "Smell Disorder" EXACT [] synonym: "Smell Disorders" EXACT [] xref: MESH:D000857 xref: RDO:0001237 is_a: DOID:0050155 ! sensory system disease [Term] id: DOID:9004043 name: Seckel Like Syndrome Type Buebel xref: MESH:C537532 is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004044 name: Carpal Synostosis with Dysplastic Elbow Joints and Brachydactyly alt_id: MIM:186550 def: "Liebenberg syndrome is an upper limb malformation characterized by the combination of dysplastic elbow joints and the fusion of wrist bones with consequent radial deviation. LBNBG, or carpal synostosis with dysplastic elbow joints and brachydactyly, is caused by genomic rearrangement resulting in misexpression of the PITX1 gene on chromosome 5q31. (OMIM)" [] synonym: "Brachydactyly with Joint Dysplasia" EXACT [] synonym: "LBNBG" EXACT [] synonym: "Liebenberg Syndrome" EXACT [] xref: MESH:C566090 is_a: DOID:0050581 ! brachydactyly is_a: DOID:11971 ! synostosis is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9004045 name: Frontoocular Syndrome alt_id: MIM:605321 xref: MESH:C565340 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004046 name: Microcephaly-Capillary Malformation Syndrome synonym: "MICCAP" EXACT [] synonym: "STAMBP-RELATED CONDITION" EXACT [] xref: MIM:614261 xref: NCI:C192098 is_a: DOID:10907 ! microcephaly is_a: DOID:11294 ! arteriovenous malformation is_a: DOID:225 ! syndrome is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:9004047 name: Transient Neonatal Hyperparathyroidism def: "A disease characterized by interference with placental maternal-fetal calcium transport, causing fetal calcium deficiency resulting in hyperparathyroidism and metabolic bone disease. Affected infants present at birth with prenatal fractures, shortened ribs, and bowing of long bones, as well as respiratory and feeding difficulties. Postnatal recovery or improvement is observed once calcium is provided orally." [MIM:618188] synonym: "HRPTTN" EXACT [] xref: MIM:618188 xref: MONDO:0032591 is_a: DOID:13543 ! hyperparathyroidism created_by: slaulede creation_date: 2019-01-14T17:29:03Z [Term] id: DOID:9004048 name: X-Linked Mental Retardation with Isolated Growth Hormone Deficiency synonym: "X-linked mental retardation with growth hormone deficiency" EXACT [] xref: MESH:C564712 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9004051 name: Deafness, Neurosensory, Autosomal Recessive 47 xref: MESH:C538205 is_a: DOID:0060140 ! cortical deafness [Term] id: DOID:9004052 name: Chromosome 22, Trisomy synonym: "Duplication 22" EXACT [] synonym: "Trisomy 22" EXACT [] xref: MESH:C536799 xref: NCI:C114765 xref: RDO:0002490 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9004053 name: Autosomal Dominant Auditory Neuropathy 2 def: "A disease characterized by postlingual onset of progressive bilateral sensorineural hearing loss in the second decade, leading to profound deafness in the fifth decade. Caused by heterozygous mutation in the ATP11A gene on chromosome 13q34." [MIM:620384] synonym: "AUNA2" EXACT [] xref: MIM:620384 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness is_a: DOID:9001890 ! Auditory Neuropathy created_by: mtutaj creation_date: 2023-05-30T15:40:40Z [Term] id: DOID:9004054 name: Hooft Disease alt_id: MIM:236300 xref: MESH:C535329 is_a: DOID:1059 ! intellectual disability is_a: DOID:4123 ! nail disease is_a: DOID:9003370 ! Dyslipidemias is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006976 ! Erythema [Term] id: DOID:9004055 name: Fungal Keratitis def: "Fungal infection of the cornea which can follow from an injury or from wearing contact lenses. It usually develops very quickly, and if left untreated, can cause blindness." [] synonym: "fungal infection of cornea" EXACT [] synonym: "keratomycosis" EXACT [] synonym: "mycotic keratitis" EXACT [] is_a: DOID:4677 ! keratitis is_a: DOID:9001949 ! Fungal Eye Infections [Term] id: DOID:9004056 name: pemphigus erythematosus def: "This is a rare superficial pemphigus disease characterized clinically by well-demarcated, localized, erythematous, scaly, hyperkeratotic, crusted plaques, with frequent butterfly distribution over the malar area of the face (but also commonly involving trunk and scalp, and less frequently the extremities, with a photoexposed distribution). Histologically, granular deposits along the dermal-epidermal junction, in addition to intercellular deposition in the upper epidermis, are observed." [ORPHA:79480] synonym: "seborrheic pemphigoid" EXACT [] synonym: "seborrheic pemphigus" EXACT [] synonym: "Senear-Usher syndrome" EXACT [] xref: EFO:0008603 is_a: DOID:9182 ! pemphigus created_by: slaulede creation_date: 2023-02-02T14:30:38Z [Term] id: DOID:9004057 name: Facial Abnormalities, Kyphoscoliosis, and Mental Retardation alt_id: MIM:227250 xref: MESH:C565580 is_a: DOID:1059 ! intellectual disability is_a: DOID:4667 ! kyphosis is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9004058 name: Immunodeficiency 98 with Autoinflammation, X-Linked def: "Characterized by onset of recurrent infections associated with lymphoproliferation and autoinflammation in the first decade of life. Caused by hemizygous mutation in the TLR8 gene on chromosome Xp22." [] synonym: "IMD98" EXACT [] synonym: "inflammation, neutropenia, bone marrow failure, and lymphoproliferation caused by TLR8" EXACT [] synonym: "INFLTR8" EXACT [] xref: MIM:301078 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2022-04-22T10:03:23Z [Term] id: DOID:9004059 name: Eye Neoplasms def: "Tumors or cancer of the EYE." [MESH:D005134] synonym: "eye neoplasm" EXACT [] synonym: "Melanocytoma of the Eyeball" NARROW [] synonym: "neoplasm of eye" EXACT [] synonym: "neoplasm of eye proper" EXACT [] synonym: "ocular tumor" EXACT [] xref: EFO:0003824 xref: EFO:1000369 xref: MESH:D005134 is_a: DOID:5614 ! eye disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9004060 name: Tetrasomy def: "The possession of four chromosomes of any one type in an otherwise diploid cell." [MESH:D058670] synonym: "Partial Tetrasomies" EXACT [] synonym: "Partial Tetrasomy" EXACT [] synonym: "Tetrasomies" EXACT [] xref: MESH:D058670 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9004061 name: Abnormalities, Severe Teratoid def: "Marked developmental anomalies of a fetus or infant." [MESH:D009008] synonym: "Severe Teratoid Abnormality" EXACT [] xref: MESH:D009008 xref: RDO:0004840 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9004062 name: Hyperhidrosis def: "Excessive sweating. In the localized type, the most frequent sites are the palms, soles, axillae, inguinal folds, and the perineal area. Its chief cause is thought to be emotional. Generalized hyperhidrosis may be induced by a hot, humid environment, by fever, or by vigorous exercise." [MESH:D006945] xref: MESH:D006945 is_a: DOID:1383 ! sweat gland disease [Term] id: DOID:9004063 name: Berk-Tabatznik Syndrome synonym: "Cleft nare, brachydactyly, short stature-dwarfism" EXACT [] synonym: "Congenital optic atrophy and brachytelephalangy" EXACT [] synonym: "Kyphosis brachyphalangy optic atrophy" EXACT [] xref: MESH:C535432 is_a: DOID:0050581 ! brachydactyly is_a: DOID:225 ! syndrome is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9004064 name: Ephemeral Fever def: "An Ephemerovirus infection of cattle caused by bovine ephemeral fever virus (EPHEMERAL FEVER VIRUS, BOVINE). It is characterized by respiratory symptoms, increased oropharyngeal secretions and lacrimation, joint pains, tremor, and stiffness." [MESH:D004810] synonym: "Three Day Sickness" EXACT [] xref: EFO:0007258 xref: MESH:D004810 xref: RDO:0005502 is_a: DOID:9004723 ! Cattle Diseases is_a: DOID:9008603 ! Rhabdoviridae Infections [Term] id: DOID:9004065 name: Leukoencephalopathy with Dystonia and Motor Neuropathy alt_id: MIM:613724 alt_id: RDO:0009956 alt_id: RDO:0014956 synonym: "Leukoencephalopathy with Dystonia and Motor Neuropathy, SCPx-Deficient" EXACT [] synonym: "LKDMN" EXACT [] synonym: "SCP2-RELATED CONDITION" EXACT [] synonym: "STEROL CARRIER PROTEIN 2 DEFICIENCY" EXACT [] xref: MESH:C566654 is_a: DOID:1389 ! polyneuropathy is_a: DOID:543 ! dystonia is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:9004066 name: Congenital Stationary Night Blindness 2B synonym: "cone-rod synaptic disorder, congenital nonprogressive" EXACT [] synonym: "congenital stationary night blindness, incomplete, autosomal recessive" EXACT [] synonym: "congenital stationary night blindness, type 2B" EXACT [] synonym: "CRSD" EXACT [] synonym: "CSNB2B" EXACT [] xref: MIM:610427 is_a: DOID:0050534 ! congenital stationary night blindness [Term] id: DOID:9004067 name: Chilblain Lupus 2 synonym: "CHBL2" EXACT [] synonym: "SAMHD1-RELATED CONDITION" BROAD [] xref: MIM:614415 is_a: DOID:0060386 ! Chilblain lupus is_a: DOID:9004248 ! Chilblains [Term] id: DOID:9004069 name: Pathologic Decalcification def: "The loss of calcium salts from bones and teeth. Bacteria may be responsible for this occurrence in teeth. Old age may be a factor contributing to calcium loss, as is the presence of diseases such as rheumatoid arthritis." [MESH:D003649] synonym: "Pathological Decalcification" EXACT [] xref: MESH:D003649 is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:9003519 ! Pathologic Bone Demineralization [Term] id: DOID:9004070 name: Townes-Brocks Syndrome 2 synonym: "TBS2" EXACT [] xref: MIM:617466 is_a: DOID:0050887 ! Townes-Brocks syndrome created_by: rgd creation_date: 2017-06-26T00:00:00Z [Term] id: DOID:9004071 name: Macrophagic Myofasciitis synonym: "Macrophagic myofasciitis, childhood" EXACT [] xref: MESH:C537829 is_a: DOID:633 ! myositis is_a: DOID:9598 ! fasciitis [Term] id: DOID:9004072 name: Richieri Costa Guion-Almeida Syndrome alt_id: MIM:268850 synonym: "Acrofacial dysostosis Richieri Costa Guion-Almeida type" EXACT [] synonym: "Richieri-Costa Guion-Almeida Cohen syndrome" EXACT [] synonym: "Richieri Costa Guion-Almeida dwarfism" EXACT [] synonym: "Sao Paulo MCA/MR syndrome" EXACT [] synonym: "short stature, mental retardation, eye anomalies, and cleft lip/palate" EXACT [] xref: MESH:C535676 is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:9004073 name: limb injury def: "This is an injury to an arm, leg, wing, or otherwise modified appendage." [https://www.merriam-webster.com] synonym: "limb injuries" EXACT [] xref: EFO:0009509 is_a: DOID:9001600 ! Wounds and Injuries created_by: slaulede creation_date: 2023-01-13T10:50:42Z [Term] id: DOID:9004074 name: Triglyceride Storage Disease, Type II alt_id: MIM:190430 xref: MESH:C566030 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9004075 name: Mental Retardation Smith Fineman Myers Type synonym: "Smith Fineman Myers syndrome" EXACT [] xref: MESH:C537445 is_a: DOID:1059 ! intellectual disability [Term] id: DOID:9004076 name: Sinus Tarsi Syndrome xref: MESH:C000604661 is_a: DOID:225 ! syndrome is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:9004077 name: SHONE COMPLEX def: "Shone complex is a rare congenital cardiac malformation characterized by a complex of four obstructive lesions of the left heart: supravalvular mitral membrane, parachute mitral valve, muscular or membranous subvalvular aortic stenosis and coarctation of aorta. Clinical manifestations include heart murmur, shortness of breath and increased load intolerance, left ventricular hypertrophy and dilatation of the left atrium. Partial forms, involving only two or three out of the four specific anomalies, are also described and occasionally other cardiovascular anomalies (e.g. bicuspid aortic valve, patent ductus arteriosus, ventricular septal defect) may be associated." [] synonym: "SHONE SYNDROME" EXACT [] xref: ORPHA:99063 is_a: DOID:5805 ! subvalvular aortic stenosis is_a: DOID:61 ! mitral valve disease is_a: DOID:9007908 ! Aortic Coarctation created_by: slaulede creation_date: 2018-10-11T18:35:00Z [Term] id: DOID:9004078 name: Pancreatic Intraepithelial Neoplasia def: "A histologically well-defined precursor to invasive ductal adenocarcinoma of the pancreas." [] synonym: "PanIN" EXACT [] xref: RDO:9000688 is_a: DOID:1793 ! pancreatic cancer [Term] id: DOID:9004079 name: Angiomatosis def: "A condition with multiple tumor-like lesions caused either by congenital or developmental malformations of BLOOD VESSELS, or reactive vascular proliferations, such as in bacillary angiomatosis. Angiomatosis is considered non-neoplastic." [MESH:D000798] synonym: "Angiomatoses" EXACT [] xref: MESH:D000798 is_a: DOID:178 ! vascular disease [Term] id: DOID:9004080 name: Aortic Rupture def: "The tearing or bursting of the wall along any portion of the AORTA, such as thoracic or abdominal. It may result from the rupture of an aneurysm or it may be due to TRAUMA." [MESH:D001019] synonym: "Aortic Ruptures" EXACT [] synonym: "Ruptured Aortic Aneurysm" EXACT [] synonym: "Ruptured Aortic Aneurysms" EXACT [] xref: EFO:1001268 xref: MESH:D001019 is_a: DOID:3627 ! aortic aneurysm is_a: DOID:9000768 ! Ruptured Aneurysm is_a: DOID:9005630 ! Rupture [Term] id: DOID:9004081 name: Oculotrichodysplasia alt_id: MIM:257960 xref: MESH:C564934 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:421 ! hair disease is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9004082 name: Mesenteric Ischemia def: "Ischemic tissue injury produced by insufficient perfusion of intestinal tissue by the MESENTERIC CIRCULATION (i.e., CELIAC ARTERY; SUPERIOR MESENTERIC ARTERY; INFERERIOR MESENTERIC ARTERY; and MESENTERIC VEINS). It can progress from ISCHEMIA; EDEMA; and GANGRENE of the bowel wall to PERITONITIS and cardiovascular collapse." [MESH:D065666] synonym: "Acute Mesenteric Arterial Embolus" EXACT [] synonym: "Acute Mesenteric Arterial Thrombosis" EXACT [] synonym: "Mesenteric Ischemias" EXACT [] synonym: "Mesenteric Vascular Insufficiencies" EXACT [] synonym: "Mesenteric Vascular Insufficiency" EXACT [] synonym: "Mesenteric Venous Thromboses" EXACT [] synonym: "Mesenteric Venous Thrombosis" EXACT [] synonym: "Nonocclusive Mesenteric Ischemia" EXACT [] synonym: "Nonocclusive Mesenteric Ischemias" EXACT [] synonym: "Occlusive Mesenteric Arterial Ischemia" EXACT [] xref: MESH:D065666 is_a: DOID:178 ! vascular disease is_a: DOID:5295 ! intestinal disease is_a: DOID:9006175 ! Peritoneal Diseases [Term] id: DOID:9004083 name: Familial Pancreatic Carcinoma xref: MESH:C535837 is_a: DOID:1793 ! pancreatic cancer is_a: DOID:305 ! carcinoma [Term] id: DOID:9004086 name: AIDS Dementia Complex def: "A neurologic condition associated with the ACQUIRED IMMUNODEFICIENCY SYNDROME and characterized by impaired concentration and memory, slowness of hand movements, ATAXIA, incontinence, apathy, and gait difficulties associated with HIV-1 viral infection of the central nervous system. Pathologic examination of the brain reveals white matter rarefaction, perivascular infiltrates of lymphocytes, foamy macrophages, and multinucleated giant cells. (From Adams et al., Principles of Neurology, 6th ed, pp760-1; N Engl J Med, 1995 Apr 6;332(14):934-40)" [MESH:D015526] synonym: "Acquired-Immune Deficiency Syndrome Dementia Complex" EXACT [] synonym: "AIDS dementia" EXACT [] synonym: "AIDS Encephalopathies" EXACT [] synonym: "AIDS Encephalopathy" EXACT [] synonym: "AIDS Related Dementia Complex" EXACT [] synonym: "HAND" EXACT [] synonym: "HIV 1 Associated Cognitive Motor Complex" EXACT [] synonym: "HIV 1 Cognitive and Motor Complex" EXACT [] synonym: "HIV Associated Cognitive Motor Complex" EXACT [] synonym: "HIV-associated neurocognitive disorders" EXACT [] synonym: "HIV Dementia" EXACT [] synonym: "HIV Dementias" EXACT [] synonym: "HIV Encephalopathies" EXACT [] synonym: "HIV Encephalopathy" EXACT [] xref: EFO:0002608 xref: EFO:0007948 xref: MESH:D015526 is_a: DOID:1307 ! dementia is_a: DOID:635 ! acquired immunodeficiency syndrome [Term] id: DOID:9004087 name: Cleidocranial Dysplasia, Forme Fruste, with Brachydactyly xref: MESH:C566119 is_a: DOID:0050581 ! brachydactyly is_a: DOID:13994 ! cleidocranial dysplasia [Term] id: DOID:9004088 name: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES def: "This disease is an autosomal recessive multiple congenital anomaly syndrome characterized by mild to moderate intellectual disability, dysmorphic facial features, intention tremor, dyspraxia, and vertical strabismus ." [MIM:619995] synonym: "NEDITPO" EXACT [] xref: MIM:619995 is_a: DOID:0060135 ! apraxia is_a: DOID:9000495 ! Tremor is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008296 ! Eye Abnormalities created_by: slaulede creation_date: 2022-12-15T10:02:49Z [Term] id: DOID:9004090 name: Tufted Angioma alt_id: MIM:607859 xref: MESH:C536924 is_a: DOID:255 ! hemangioma is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9004091 name: Osteophytes alt_id: RDO:0007689 def: "Bony outgrowth usually found around joints and often seen in conditions such as ARTHRITIS." [MESH:D054850] synonym: "bone spur" EXACT [] synonym: "bone spurs" EXACT [] synonym: "osteophyte" EXACT [] xref: MESH:D054850 is_a: DOID:203 ! exostosis [Term] id: DOID:9004092 name: cryoglobulinemic vasculitis def: "A complication of cryoglobulinemia that includes a large spectrum of symptoms, ranging in severity from mild sporadic purpura to damage and inflammation of the blood vessels throughout the body (vasculitis)." [https://medlineplus.gov/ency/article/000540.htm "MedlinePlus", PMID:26219420] synonym: "cryoglobulinemia vasculitis" EXACT [] xref: https://medlineplus.gov/ency/article/000540.htm xref: PMID:26219420 is_a: DOID:2917 ! cryoglobulinemia is_a: DOID:865 ! vasculitis created_by: slaulede creation_date: 2020-06-15T13:53:46Z [Term] id: DOID:9004093 name: Laryngeal Atresia, Encephalocele, and Limb Deformities alt_id: MIM:607132 xref: MESH:C564620 is_a: DOID:786 ! laryngeal disease is_a: DOID:9000983 ! Encephalocele is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9004094 name: Bangstad Syndrome alt_id: MIM:210740 synonym: "BIRD-HEADED DWARFISM WITH PROGRESSIVE ATAXIA, INSULIN-RESISTANT DIABETES, GOITER, AND PRIMARY GONADAL INSUFFICIENCY" EXACT [] xref: MESH:C537902 is_a: DOID:12176 ! goiter is_a: DOID:225 ! syndrome is_a: DOID:9004866 ! Ataxia is_a: DOID:9007661 ! Dwarfism is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:9004095 name: Seres-Santamaria Arimany Muniz Syndrome synonym: "Cleft palate, ankyloblepharon, alveolar synechiae, and ectodermal defects" EXACT [] xref: MESH:C537585 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate [Term] id: DOID:9004096 name: Veno-Occlusive Disease synonym: "venoocclusive disease" EXACT [] synonym: "venoocclusive disease after bone marrow transplantation, susceptibility to" NARROW [] xref: RDO:9000761 is_a: DOID:178 ! vascular disease [Term] id: DOID:9004097 name: Marfanoid Hypermobility Syndrome alt_id: MIM:154750 synonym: "Marfan syndrome type 1" EXACT [] xref: MESH:C531742 is_a: DOID:14323 ! Marfan syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9004098 name: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL DISABILITY AND DYSMORPHIC FACIES def: "This disease is a clinically heterogeneous disorder characterized by neurologic deficits and characteristic dysmorphic facial features apparent from infancy or early childhood." [MIM:620098] synonym: "DIDDF" EXACT [] synonym: "JARID2-RELATED CONDITION" EXACT [] synonym: "JARID2-RELATED NEURODEVELOPMENTAL SYNDROME" EXACT [] xref: MIM:620098 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies created_by: slaulede creation_date: 2023-02-16T09:22:14Z [Term] id: DOID:9004099 name: Bulimia def: "Eating an excess amount of food in a short period of time, as seen in the disorder of BULIMIA NERVOSA. It is caused by an abnormal craving for food, or insatiable hunger also known as 'ox hunger'." [MESH:D002032] synonym: "Binge Eating" EXACT [] synonym: "Bulimias" EXACT [] xref: EFO:0005924 xref: MESH:D002032 is_a: DOID:9002916 ! Hyperphagia [Term] id: DOID:9004100 name: Familial Atrial Fibrillation 14 synonym: "ATFB14" EXACT [] synonym: "SCN2B-RELATED CONDITION" EXACT [] xref: MIM:615378 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9004101 name: Autosomal Recessive Nonsyndromic Deafness 118 synonym: "autosomal recessive deafness 118, with cochlear aplasia" EXACT [] synonym: "DFNB118" EXACT [] xref: MIM:619553 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: mtutaj creation_date: 2021-10-01T13:27:32Z [Term] id: DOID:9004102 name: Duane Retraction Syndrome 1 synonym: "Duane retraction syndrome type 1" EXACT [] synonym: "Duane syndrome type 1" EXACT [] synonym: "DURS1" EXACT [] xref: MIM:126800 is_a: DOID:12557 ! Duane retraction syndrome created_by: mtutaj creation_date: 2020-03-02T08:42:31Z [Term] id: DOID:9004103 name: Lymphatic Malformation 11 def: "Characterized by lower extremity edema, with onset in the second or third decade of life. Caused by heterozygous mutation in the TIE1 gene on chromosome 1p34. (OMIM)" [] synonym: "LMPHM11" EXACT [] xref: MIM:619401 is_a: DOID:0050580 ! hereditary lymphedema created_by: mtutaj creation_date: 2021-06-25T15:35:37Z [Term] id: DOID:9004104 name: Tooth Wear def: "Loss of the tooth substance by chemical or mechanical processes" [MESH:D057085] synonym: "Dental Wear" EXACT [] synonym: "Dental Wears" EXACT [] synonym: "Tooth Wears" EXACT [] xref: MESH:D057085 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9004105 name: Symphalangism, C. S. Lewis Type alt_id: MIM:185650 synonym: "stiff thumbs" EXACT [] xref: MESH:C566100 is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9004106 name: White Heifer Disease def: "A congenital reproductive abnormality in white female offspring (heifers) in certain breeds of CATTLE, such as Belgian Blue and Shorthorn. The white color is inherited as a recessive trait which is associated with defects in the female reproductive tract (Muellerian system). These heifers are usually sterile." [MESH:D050072] xref: MESH:D050072 xref: MONDO:0025163 is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:9004107 name: Morillo-Cucci Passarge Syndrome xref: MESH:C536983 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004108 name: Fused Kidney def: "Congenital fusion of two kidneys." [MESH:D000069337] synonym: "Cake Kidney" EXACT [] synonym: "Cake Kidneys" EXACT [] synonym: "Congenital Fusion of Kidneys" EXACT [] synonym: "Congenital Lobulation of Kidneys" EXACT [] synonym: "Crossed Fused Ectopia" EXACT [] synonym: "Crossed Fused Ectopia of Kidneys" EXACT [] synonym: "Crossed Fused Ectopias" EXACT [] synonym: "Fused Kidneys" EXACT [] synonym: "Fusion of Kidney" EXACT [] synonym: "Horseshoe Kidney" EXACT [] synonym: "Horseshoe Kidneys" EXACT [] synonym: "Kidney Fusion" EXACT [] synonym: "Kidney Fusions" EXACT [] synonym: "Kidney Lobulation" EXACT [] synonym: "Kidney Lobulations" EXACT [] synonym: "Lobulated Kidney" EXACT [] synonym: "Lobulated Kidneys" EXACT [] synonym: "Lobulation of Kidney" EXACT [] synonym: "Pelvic Cake Kidney" EXACT [] synonym: "Pelvic Cake Kidneys" EXACT [] synonym: "Renal Fusion" EXACT [] synonym: "Renal Fusions" EXACT [] xref: MESH:D000069337 xref: RDO:0015996 is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9004109 name: Intestinal Carcinoid Tumors alt_id: MIM:114900 synonym: "Ascending Colon Neuroendocrine Tumor G1" NARROW [] synonym: "Ileal Neuroendocrine Tumor G1" NARROW [] xref: EFO:1000094 xref: EFO:1000300 xref: MESH:C562842 is_a: DOID:9002245 ! Intestinal Neoplasms is_a: DOID:9007787 ! Carcinoid Tumor [Term] id: DOID:9004110 name: Traumatic Dental Occlusion def: "An occlusion resulting in overstrain and injury to teeth, periodontal tissue, or other oral structures." [MESH:D003769] synonym: "Traumatic Dental Occlusions" EXACT [] xref: MESH:D003769 is_a: DOID:9000121 ! Malocclusion [Term] id: DOID:9004111 name: Polyasplenia synonym: "Asplenia with Cardiovascular Abnormalities" EXACT [] xref: MESH:C566862 xref: RDO:0015083 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:2529 ! splenic disease [Term] id: DOID:9004112 name: Cerebellar Vermis Aplasia with Associated Features suggesting Smith-Lemli-Opitz Syndrome and Meckel Syndrome alt_id: MIM:213010 xref: MESH:C565867 is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:1088 ! meningocele is_a: DOID:14692 ! Smith-Lemli-Opitz syndrome is_a: DOID:225 ! syndrome is_a: DOID:2786 ! cerebellar disease is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:9004113 name: Ehlers-Danlos Syndrome with Platelet Dysfunction from Fibronectin Abnormality alt_id: MIM:225310 synonym: "EDS 10" EXACT [] synonym: "EDS X" EXACT [] synonym: "Ehlers-Danlos Syndrome, Dysfibronectinemic Type" EXACT [] synonym: "Ehlers-Danlos Syndrome, Type X" EXACT [] xref: MESH:C565600 is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:9004114 name: Ophthalmomandibulomelic Dysplasia alt_id: MIM:164900 synonym: "OMM syndrome" EXACT [] synonym: "Pillay syndrome" EXACT [] xref: MESH:C563501 xref: ORDO:2741 is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9004402 ! Congenital Upper Extremity Deformities [Term] id: DOID:9004115 name: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES def: "This disease is a severe autosomal recessive disorder characterized by failure to thrive in infancy, global developmental delay, hypotonia, motor abnormalities with inability to walk, involuntary movements, impaired intellectual development, absent speech, seizures, and structural brain abnormalities." [MIM:620732] synonym: "NEDMSB" EXACT [] xref: MIM:620732 is_a: DOID:1826 ! epilepsy is_a: DOID:9002362 ! Hyperkinesis is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006534 ! Nervous System Malformations created_by: slaulederkind creation_date: 2024-05-24T13:12:42Z [Term] id: DOID:9004116 name: Rett Syndrome, Preserved Speech Variant xref: MESH:C564063 is_a: DOID:1206 ! Rett syndrome [Term] id: DOID:9004117 name: COD (Cerebroocular Dysgenesis) xref: MESH:C535631 xref: RDO:0000861 is_a: DOID:0050560 ! Walker-Warburg syndrome [Term] id: DOID:9004118 name: Experimental Melanoma def: "Experimentally induced tumor that produces MELANIN in animals to provide a model for studying human MELANOMA." [MESH:D008546] synonym: "B16 Melanoma" EXACT [] synonym: "B16 Melanomas" EXACT [] synonym: "Cloudman S91 Melanoma" EXACT [] synonym: "Experimental Melanomas" EXACT [] synonym: "Harding Passey Melanoma" EXACT [] xref: MESH:D008546 is_a: DOID:1909 ! melanoma is_a: DOID:9002170 ! Experimental Neoplasms [Term] id: DOID:9004119 name: Richieri Costa Pereira Syndrome alt_id: MIM:268305 synonym: "RCPS" EXACT [] synonym: "Richieri-Costa and Pereira form of acrofacial dysostosis" EXACT [] synonym: "Robin sequence with cleft mandible and limb anomalies" EXACT [] xref: MESH:C535677 xref: RDO:0000932 is_a: DOID:11836 ! clubfoot is_a: DOID:225 ! syndrome is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9004120 name: Alcohol Withdrawal Seizures def: "A condition where seizures occur in association with ethanol abuse (ALCOHOLISM) without other identifiable causes. Seizures usually occur within the first 6-48 hours after the cessation of alcohol intake, but may occur during periods of alcohol intoxication. Single generalized tonic-clonic motor seizures are the most common subtype, however, STATUS EPILEPTICUS may occur. (Adams et al., Principles of Neurology, 6th ed, p1174)" [MESH:D020270] synonym: "Alcoholic Seizure" EXACT [] synonym: "Alcoholic Seizures" EXACT [] synonym: "Alcohol Withdrawal Induced Major Motor Seizure" EXACT [] synonym: "Alcohol Withdrawal Induced Seizure" EXACT [] synonym: "Alcohol Withdrawal-Induced Seizures" EXACT [] synonym: "Alcohol Withdrawal Induced Status Epilepticus" EXACT [] synonym: "Alcohol Withdrawal Seizure" EXACT [] xref: MESH:D020270 is_a: DOID:1826 ! epilepsy is_a: DOID:9002735 ! alcohol withdrawal syndrome is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System [Term] id: DOID:9004121 name: Hand Deformities, Acquired def: "Deformities of the hand, or a part of the hand, acquired after birth as the result of injury or disease." [MESH:D006227] synonym: "Acquired Hand Deformity" EXACT [] xref: MESH:D006227 xref: RDO:0005712 is_a: DOID:9008871 ! Hand Deformities [Term] id: DOID:9004122 name: Focal Facial Dermal Dysplasia 2 synonym: "Brauer-Setleis syndrome" EXACT [] synonym: "FFDD2" EXACT [] synonym: "focal facial dermal dysplasia 2, Brauer-Setleis type" EXACT [] xref: MIM:614973 is_a: DOID:9000745 ! Focal Facial Dermal Dysplasia created_by: mtutaj creation_date: 2021-12-08T14:40:44Z [Term] id: DOID:9004123 name: Beemer Ertbruggen Syndrome alt_id: MIM:209970 synonym: "Beemer lethal malformation syndrome" EXACT [] synonym: "hydrocephalus, cardiac malformation, dense bones, genital anomalies, thrombocytopenia, and dysmorphic facies" EXACT [] xref: MESH:C537668 is_a: DOID:10908 ! hydrocephalus is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies [Term] id: DOID:9004125 name: Supraumbilical Midabdominal Raphe and Facial Cavernous Hemangiomas alt_id: MIM:140850 synonym: "Cavernous Hemangiomas of Face and Supraumbilical Midline Raphe" EXACT [] synonym: "cavernous hemangiomas of face, supraumbilical midline raphe" EXACT [] synonym: "FACIAL HEMANGIOMA" NARROW [] synonym: "Raphe, supraumbilical midline, with cavernous facial hemangiomas" EXACT [] synonym: "Sternal nonunion with supraumbilical raphe" EXACT [] xref: MESH:C538144 is_a: DOID:483 ! cavernous hemangioma is_a: DOID:9007009 ! Facial Neoplasms [Term] id: DOID:9004126 name: Hepadnaviridae Infections def: "Virus diseases caused by the HEPADNAVIRIDAE." [MESH:D018347] synonym: "Hepadnaviridae Infection" EXACT [] synonym: "Hepadnaviridae infectious disease" EXACT [] xref: EFO:0007301 xref: MESH:D018347 xref: RDO:0005778 is_a: DOID:9000251 ! DNA Virus Infections [Term] id: DOID:9004127 name: Corneal Dystrophy, Fuchs Endothelial, 4 alt_id: MIM:613268 synonym: "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET" EXACT [] synonym: "FECD4" EXACT [] xref: MESH:C567677 is_a: DOID:11555 ! Fuchs' endothelial dystrophy [Term] id: DOID:9004128 name: Aplasia Cutis Congenita, Congenital Heart Defect, and Frontonasal Cysts xref: MESH:C566997 xref: RDO:0015187 is_a: DOID:1682 ! congenital heart disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9007583 ! Cysts [Term] id: DOID:9004129 name: Progressive External Ophthalmoplegia with Myoclonus xref: RDO:9000754 is_a: DOID:12558 ! chronic progressive external ophthalmoplegia is_a: DOID:9007722 ! Myoclonus [Term] id: DOID:9004130 name: Pharyngeal Diseases def: "Pathological processes involving the PHARYNX." [MESH:D010608] synonym: "diseases of pharynx" EXACT [] synonym: "disorder of pharynx" EXACT [] synonym: "pharyngeal disease" EXACT [] synonym: "pharynx disease" EXACT [] synonym: "pharynx diseases" EXACT [] xref: MESH:D010608 xref: MONDO:0020592 is_a: DOID:9001349 ! Stomatognathic Diseases is_a: DOID:9007241 ! Otorhinolaryngologic Diseases [Term] id: DOID:9004131 name: NEURODEVELOPMENTAL DISORDER WITH SPEECH DELAY AND VARIABLE OCULAR ANOMALIES def: "This disease is an autosomal recessive disorder characterized by global developmental delay with impaired intellectual development and poor speech acquisition apparent from infancy." [MIM:619989] synonym: "NEDSOA" EXACT [] xref: MIM:619989 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:92 ! speech disorder created_by: slaulede creation_date: 2022-12-15T10:47:09Z [Term] id: DOID:9004132 name: Short Stature Syndrome, Brussels Type alt_id: MIM:601350 synonym: "Mievis Verellen-Dumoulin syndrome" EXACT [] xref: MESH:C537121 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9004133 name: Tibial Meniscus Injuries def: "Injuries to the TIBIAL MENISCUS of the leg." [MESH:D000070600] synonym: "Bucket Handle Tear" EXACT [] synonym: "Bucket Handle Tears" EXACT [] synonym: "Flap Tear" EXACT [] synonym: "Flap Tears" EXACT [] synonym: "Tibial Meniscus Injury" EXACT [] synonym: "Tibial Meniscus Tear" EXACT [] synonym: "Tibial Meniscus Tears" EXACT [] synonym: "Torn Tibial Meniscus" EXACT [] xref: MESH:D000070600 is_a: DOID:9008911 ! Leg Injuries [Term] id: DOID:9004134 name: Cervical Rib Syndrome alt_id: MIM:117900 def: "A condition associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the thoracic outlet and caused by a complete or incomplete anomalous CERVICAL RIB or fascial band connecting the tip of a cervical rib with the first thoracic rib. Clinical manifestations may include pain in the neck and shoulder which radiates into the upper extremity, PARESIS or PARALYSIS of brachial plexus innervated muscles; sensory loss; PARESTHESIAS; ISCHEMIA; and EDEMA. (Adams et al., Principles of Neurology, 6th ed, p214)" [MESH:D002573] synonym: "Anomalous Cervical Rib Syndrome" EXACT [] synonym: "Cervical Rib Cervical Band Syndrome" EXACT [] synonym: "Cervical Rib Syndromes" EXACT [] synonym: "Naffziger's Syndrome" EXACT [] synonym: "Naffziger's Syndromes" EXACT [] synonym: "Naffziger Syndrome" EXACT [] synonym: "Naffziger Syndromes" EXACT [] xref: EFO:1000861 xref: MESH:D002573 is_a: DOID:225 ! syndrome is_a: DOID:3103 ! thoracic outlet syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9004136 name: Cataplexy and Narcolepsy def: "Narcolepsy with cataplexy is a sleep disorder characterized by excessive day-time sleepiness associated with uncontrollable sleep urges and cataplexy (loss of muscle tone often triggered by pleasant emotions)." [ORPHA:2073] synonym: "narcolepsy-cataplexy syndrome" EXACT [] synonym: "narcolepsy-cataplexy syndromes" EXACT [] synonym: "narcolepsy with cataplexy" EXACT [] xref: EFO:0000614 xref: MONDO:0016158 is_a: DOID:8986 ! narcolepsy is_a: DOID:9002695 ! Cataplexy created_by: slaulede creation_date: 2019-07-01T11:47:25Z [Term] id: DOID:9004137 name: Bunyaviridae Infections def: "Virus diseases caused by the BUNYAVIRIDAE." [MESH:D002044] synonym: "Bunyaviridae Infection" EXACT [] synonym: "Bunyavirus Infection" EXACT [] synonym: "Bunyavirus Infections" EXACT [] xref: EFO:0007188 xref: MESH:D002044 xref: RDO:0005081 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9004138 name: Spastic Paraplegia with Associated Extrapyramidal Signs alt_id: MIM:182800 xref: MESH:C566681 is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:9004139 name: Hemoptysis def: "Expectoration or spitting of blood originating from any part of the RESPIRATORY TRACT, usually from hemorrhage in the lung parenchyma (PULMONARY ALVEOLI) and the BRONCHIAL ARTERIES." [MESH:D006469] synonym: "Hemoptyses" EXACT [] xref: MESH:D006469 is_a: DOID:850 ! lung disease is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9004140 name: Spastic Paraplegia, Optic Atrophy, Microcephaly, and XY Sex Reversal xref: MESH:C566409 xref: MIM:603117 xref: MONDO:0011288 is_a: DOID:10907 ! microcephaly is_a: DOID:14448 ! 46,XY sex reversal is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:9004141 name: Desmoplastic Fibroma def: "A extremely rare bone tumor characterized by abundant collagen formation and a fibrous stroma, without evidence of mitosis or pleomorphism. It appears on x-rays as an osteolytic lesion with well-defined margins and must be differentiated from primary fibrosarcoma of bone. (DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1441)" [MESH:D018220] synonym: "Desmoplastic Fibromas" EXACT [] xref: EFO:1001783 xref: MESH:D018220 is_a: DOID:0050871 ! fibroma [Term] id: DOID:9004142 name: Pyogenic Liver Abscesses alt_id: RDO:0007529 def: "Single or multiple areas of PUS due to bacterial infection within the hepatic parenchyma. It can be caused by a variety of BACTERIA, local or disseminated from infections elsewhere such as in APPENDICITIS; CHOLECYSTITIS; PERITONITIS; and after LIVER TRANSPLANTATION." [MESH:D046290] synonym: "Pyogenic Hepatic Abscess" EXACT [] synonym: "Pyogenic Hepatic Abscesses" EXACT [] synonym: "pyogenic liver abscess" EXACT [] xref: EFO:1001836 xref: MESH:D046290 is_a: DOID:9002668 ! Liver Abscess [Term] id: DOID:9004143 name: X-Linked Hypogammaglobulinemia xref: MESH:C562478 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:9004144 name: AZOOSPERMIA, OBSTRUCTIVE, WITH NEPHROLITHIASIS def: "A disease characterized by male infertility due to obstruction at the head of the epididymis, as well as hypercalciuria and kidney stones." [MIM:301060] synonym: "OAZON" EXACT [] synonym: "obstructive azoospermia with nephrolithiasis" EXACT [] xref: MIM:301060 is_a: DOID:14227 ! azoospermia is_a: DOID:585 ! nephrolithiasis created_by: slaulede creation_date: 2021-04-06T17:46:48Z [Term] id: DOID:9004146 name: Flavivirus Infections def: "Infections with viruses of the genus FLAVIVIRUS, family FLAVIVIRIDAE." [MESH:D018177] synonym: "Flavivirus infection" EXACT [] synonym: "Flavivirus infectious disease" EXACT [] xref: EFO:1001326 xref: MESH:D018177 is_a: DOID:9008551 ! Flaviviridae Infections [Term] id: DOID:9004147 name: Anosmia def: "Complete or severe loss of the subjective sense of smell. Loss of smell may be caused by many factors such as cold, allergy, OLFACTORY NERVE DISEASES; viral RESPIRATORY TRACT INFECTIONS (e.g., COVID-19), aging and various neurological disorders (e.g., ALZHEIMER DISEASE). (MESH)" [] synonym: "hyposmia" EXACT [] synonym: "loss of smell" EXACT [] xref: MESH:D000086582 is_a: DOID:9004042 ! Olfaction Disorders created_by: mtutaj creation_date: 2020-12-21T12:55:56Z [Term] id: DOID:9004148 name: Spondyloepiphyseal Dysplasia with Atlantoaxial Instability alt_id: MIM:600561 xref: MESH:C563472 is_a: DOID:0112280 ! spondyloepiphyseal dysplasia is_a: DOID:9005077 ! Joint Instability [Term] id: DOID:9004149 name: Preaxial Polydactyly III alt_id: MIM:174600 synonym: "Index Finger Polydactyly" EXACT [] synonym: "PPD3" EXACT [] xref: MESH:C566784 is_a: DOID:9005329 ! Preaxial Polydactyly [Term] id: DOID:9004150 name: Lymphadenopathy def: "Disease of LYMPH NODES which are abnormal in size, number or consistency." [MESH:D000072281] synonym: "adenopathies" EXACT [] synonym: "adenopathy" EXACT [] synonym: "lymphadenopathies" EXACT [] xref: MESH:D000072281 is_a: DOID:9942 ! lymph node disease [Term] id: DOID:9004151 name: Sex Chromosome Disorders def: "Clinical conditions caused by an abnormal sex chromosome constitution (SEX CHROMOSOME ABERRATIONS), in which there is extra or missing sex chromosome material (either a whole chromosome or a chromosome segment)." [MESH:D025064] synonym: "Sex Chromosome Abnormality Disorders" EXACT [] synonym: "Sex Chromosome Disorder" EXACT [] xref: MESH:D025064 is_a: DOID:0080014 ! chromosomal disease [Term] id: DOID:9004152 name: C9 Deficiency with Dermatomyositis xref: MESH:C565166 is_a: DOID:10223 ! dermatomyositis is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9004153 name: Infant Nutrition Disorders def: "Disorders caused by nutritional imbalance, either overnutrition or undernutrition, occurring in infants ages 1 month to 24 months." [MESH:D007228] synonym: "Infantile Malnutrition" EXACT [] synonym: "Infant Malnutrition" EXACT [] synonym: "Infant Nutrition Disorder" EXACT [] synonym: "Infant Overnutrition" EXACT [] synonym: "Malnutrition in Infant" EXACT [] synonym: "Malnutrition in Infants" EXACT [] xref: MESH:D007228 is_a: DOID:374 ! nutrition disease [Term] id: DOID:9004154 name: Bacillaceae Infections def: "Infections with bacteria of the family BACILLACEAE." [MESH:D016863] synonym: "Bacillaceae Infection" EXACT [] synonym: "Bacillaceae infectious disease" EXACT [] synonym: "primary Bacillaceae infectious disease" EXACT [] xref: EFO:1001124 xref: MESH:D016863 xref: RDO:0004865 is_a: DOID:9002823 ! Gram-Positive Bacterial Infections [Term] id: DOID:9004155 name: Shoulder Injuries def: "Injuries involving the SHOULDERS." [MESH:D000070599] synonym: "Shoulder Injury" EXACT [] synonym: "SLAP Tear" EXACT [] synonym: "SLAP Tears" EXACT [] synonym: "Superior Labrum from Anterior to Posterior Injuries" EXACT [] xref: MESH:D000070599 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9004156 name: Tetra Amelia with Ectodermal Dysplasia and Lacrimal Duct Abnormalities alt_id: MIM:273390 synonym: "Absence of all four limbs with ectodermal dysplasia and lacrimal duct abnormalities" EXACT [] synonym: "Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities" EXACT [] xref: MESH:C536496 is_a: DOID:0112191 ! tetraamelia syndrome is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9004157 name: Protozoan Infections, Animal def: "Infections with unicellular organisms formerly members of the subkingdom Protozoa. The infections may be experimental or veterinary." [MESH:D011529] synonym: "Animal Protozoan Infection" EXACT [] xref: MESH:D011529 xref: RDO:0004961 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9006645 ! Parasitic Diseases, Animal [Term] id: DOID:9004158 name: diffuse intrinsic pontine glioma def: "This is a neuroglial tumor that arises from the middle portion of the brain stem. It usually affects children and has a poor prognosis" [NCI:C94764] synonym: "DIPG" EXACT [] xref: EFO:1000026 xref: MESH:D000080443 is_a: DOID:4202 ! brain stem glioma created_by: slaulede creation_date: 2022-09-19T16:17:35Z [Term] id: DOID:9004159 name: Epidermolysis Bullosa with Deficiency of Galactosylhydroxylysyl Glucosyltransferase alt_id: MIM:131880 xref: MESH:C565049 is_a: DOID:2730 ! epidermolysis bullosa [Term] id: DOID:9004160 name: Metrorrhagia def: "Abnormal uterine bleeding that is not related to MENSTRUATION, usually in females without regular MENSTRUAL CYCLE. The irregular and unpredictable bleeding usually comes from a dysfunctional ENDOMETRIUM." [MESH:D008796] synonym: "Bleeding Between Periods" EXACT [] synonym: "Breakthrough Bleeding" EXACT [] synonym: "Dysfunctional Uterine Bleeding" EXACT [] synonym: "Dysfunctional Uterine Bleedings" EXACT [] synonym: "Intermenstrual Bleeding" EXACT [] synonym: "Spotting" EXACT [] xref: MESH:D008796 is_a: DOID:1005 ! endometrial disease is_a: DOID:9006889 ! Uterine Hemorrhage [Term] id: DOID:9004161 name: Mental Retardation, Skeletal Dysplasia, and Abducens Palsy alt_id: MIM:309620 synonym: "Christian Syndrome" EXACT [] synonym: "CHRS" EXACT [] synonym: "MRSD" EXACT [] xref: MESH:C564101 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10865 ! abducens nerve palsy is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9004162 name: BILE ACID CONJUGATION DEFECT 1 def: "This disease is an autosomal recessive metabolic disorder characterized by onset of symptoms, including jaundice and failure to thrive, in early infancy. The clinical features of the disorder result from impaired absorption of fat-soluble vitamins D and K." [MIM:619232] synonym: "BAAT-RELATED CONDITION" NARROW [] synonym: "BACD1" EXACT [] synonym: "bile acid conjugation defect-1" EXACT [] xref: MIM:619232 is_a: DOID:9004644 ! Avitaminosis created_by: slaulede creation_date: 2021-05-11T13:23:32Z [Term] id: DOID:9004163 name: Internal Anal Sphincter Myopathy alt_id: MIM:105565 synonym: "proctalgia fugax due to anal sphincter myopathy" EXACT [] xref: MESH:C566287 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9004165 name: Soft Tissue Infections def: "Infections of non-skeletal tissue, i.e., exclusive of bone, ligaments, cartilage, and fibrous tissue. The concept is usually referred to as skin and soft tissue infections and usually subcutaneous and muscle tissue are involved. The predisposing factors in anaerobic infections are trauma, ischemia, and surgery. The organisms often derive from the fecal or oral flora, particularly in wounds associated with intestinal surgery, decubitus ulcer, and human bites. (From Cecil Textbook of Medicine, 19th ed, p1688)" [MESH:D018461] synonym: "Soft Tissue Infection" EXACT [] xref: MESH:D018461 xref: RDO:0007207 is_a: DOID:9004384 ! Bacterial Infections and Mycoses [Term] id: DOID:9004166 name: Ovalocytosis, Hereditary Hemolytic, with Defective Erythropoiesis alt_id: MIM:166910 xref: MESH:C563479 is_a: DOID:2373 ! hereditary elliptocytosis [Term] id: DOID:9004167 name: Glaucoma 1, Open Angle, M alt_id: MIM:610535 synonym: "GLC1M" EXACT [] xref: MESH:C566436 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9004168 name: Zechi-Ceide Syndrome alt_id: MIM:612916 synonym: "occipital atretic cephalocele, unusual facies, and large feet" EXACT [] xref: MESH:C567865 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9000983 ! Encephalocele is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004169 name: Gas Poisoning def: "Poisoning that results from exposure to gases such as CARBON MONOXIDE; NOBLE GASES; OXYGEN; or NATURAL GAS." [MESH:D005739] synonym: "Gas Poisonings" EXACT [] xref: MESH:D005739 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9004170 name: Macular Dystrophy with Central Cone Involvement synonym: "CCMD" EXACT [] xref: MIM:616170 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:4448 ! macular degeneration [Term] id: DOID:9004171 name: Spinal Muscular Atrophy with Congenital Bone Fractures xref: MIM:PS616866 is_a: DOID:0060160 ! childhood spinal muscular atrophy is_a: DOID:9002589 ! Bone Fractures created_by: mtutaj creation_date: 2019-03-26T00:00:00Z [Term] id: DOID:9004172 name: Epilepsy, Occipital Calcifications alt_id: MIM:226810 synonym: "Bilateral occipital calcifications with epilepsy" EXACT [] synonym: "Familial unilateral and bilateral occipital calcifications and epilepsy" EXACT [] xref: MESH:C535496 is_a: DOID:182 ! calcinosis is_a: DOID:1826 ! epilepsy [Term] id: DOID:9004173 name: Distal Osteosclerosis alt_id: MIM:126250 xref: MESH:C565093 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:9004174 name: Inosine Triphosphatase Deficiency alt_id: MIM:613850 synonym: "INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY" EXACT [] xref: MESH:C564127 xref: NCI:C129974 xref: RDO:0013189 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9004175 name: Microcephaly, Epilepsy, and Diabetes Syndrome 1 def: "An autosomal recessive neurodevelopmental disorder characterized by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes. Caused by homozygous or compound heterozygous mutation in the IER3IP1 gene on chromosome 18q21. (OMIM)" [] synonym: "MEDS1" EXACT [] xref: MIM:614231 is_a: DOID:9002791 ! Microcephaly, Epilepsy, and Diabetes Syndrome created_by: mtutaj creation_date: 2021-04-19T18:16:26Z [Term] id: DOID:9004176 name: Partial Combined Immunodeficiency with Absence of HLA Determinants and Beta-2-Microglobulin from Lymphocytes alt_id: MIM:242870 xref: MESH:C565468 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9004177 name: Carabelli Anomaly of Maxillary Molar Teeth alt_id: MIM:114700 xref: MESH:C566175 is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9004178 name: Levocardia def: "Congenital abnormalities in which the HEART is in the normal position (levocardia) in the left side of the chest but some or all of the THORAX or ABDOMEN viscera are transposed laterally (SITUS INVERSUS). It is also known as situs inversus with levocardia, or isolated levocardia. This condition is often associated with severe heart defects and splenic abnormalities such as asplenia or polysplenia." [MESH:D007979] synonym: "Isolated Levocardia" EXACT [] synonym: "Situs Inversus with Levocardia" EXACT [] xref: MESH:D007979 is_a: DOID:1682 ! congenital heart disease is_a: DOID:758 ! situs inversus [Term] id: DOID:9004179 name: Immunodeficiency 97 with Autoinflammation def: "An autosomal recessive complex immunologic disorder with variable features. Caused by compound heterozygous mutation in the PIK3CG gene on chromosome 7q22." [MIM:619802] synonym: "IMD97" EXACT [] xref: MIM:619802 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2022-04-11T10:03:06Z [Term] id: DOID:9004180 name: Aquaporin 1 Deficiency synonym: "COLTON-NULL" EXACT [] xref: MIM:110450 is_a: DOID:630 ! genetic disease created_by: rgd creation_date: 2016-09-06T00:00:00Z [Term] id: DOID:9004181 name: Hypospadias 4 synonym: "HYSP4" EXACT [] synonym: "X-linked hypospadias 4, susceptibility to" RELATED [] xref: MIM:300856 is_a: DOID:10892 ! hypospadias created_by: mtutaj creation_date: 2022-08-22T10:28:58Z [Term] id: DOID:9004182 name: CHITOTRIOSIDASE DEFICIENCY synonym: "CHITD" EXACT [] xref: MIM:614122 xref: RDO:9001393 is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2017-02-27T00:00:00Z [Term] id: DOID:9004183 name: Vocal Cord Dysfunction def: "A disorder characterized by an intermittent abnormal VOCAL CORDS movement toward the midline during inspiration or expiration resulting in upper AIRWAY OBSTRUCTION." [MESH:D064706] synonym: "Exercise Induced Vocal Cord Dysfunction" EXACT [] synonym: "Paradoxical Vocal Fold Motion" EXACT [] synonym: "Paradoxical Vocal Fold Motion Disorder" EXACT [] synonym: "Vocal Cord Dysfunctions" EXACT [] xref: MESH:D064706 is_a: DOID:786 ! laryngeal disease is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9004185 name: Congenital Dislocation of the Patella synonym: "Congenital patellar dislocation" EXACT [] xref: MESH:C538081 xref: RDO:0004015 is_a: DOID:9004266 ! Patellar Dislocation [Term] id: DOID:9004186 name: Wolman Disease with Hypolipoproteinemia and Acanthocytosis is_a: DOID:1386 ! abetalipoproteinemia is_a: DOID:1387 ! hypolipoproteinemia is_a: DOID:14497 ! Wolman disease [Term] id: DOID:9004187 name: Disease Resistance def: "The capacity of an organism to defend itself against pathological processes or the agents of those processes. This most often involves innate immunity whereby the organism responds to pathogens in a generic way. The term disease resistance is used most frequently when referring to plants." [MESH:D060467] synonym: "Disease Resistances" EXACT [] xref: MESH:D060467 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9004188 name: Joubert Syndrome 39 def: "An autosomal recessive neurodevelopmental disorder with variable manifestations. Caused by homozygous or compound heterozygous mutation in the TMEM218 gene on chromosome 11q24. (OMIM)" [] synonym: "JBTS39" EXACT [] xref: MIM:619562 is_a: DOID:0050777 ! Joubert syndrome created_by: mtutaj creation_date: 2021-10-15T14:56:44Z [Term] id: DOID:9004189 name: T-Cell Lymphoma 1A alt_id: MIM:186960 xref: MESH:C536782 is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma [Term] id: DOID:9004190 name: Hiccup def: "A spasm of the diaphragm that causes a sudden inhalation followed by rapid closure of the glottis which produces a sound." [MESH:D006606] synonym: "Hiccough" EXACT [] synonym: "Hiccoughs" EXACT [] synonym: "Hiccups" EXACT [] xref: MESH:D006606 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9004191 name: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA synonym: "CHDED" EXACT [] xref: MIM:617364 xref: RDO:9001693 is_a: DOID:1682 ! congenital heart disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9004192 name: Arthrogryposis, X-Linked, Type V alt_id: MIM:300158 synonym: "ACLLX" EXACT [] synonym: "AMCX5" EXACT [] synonym: "congenital lower limb arthrogryposis, X-linked" EXACT [] xref: MESH:C564574 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita [Term] id: DOID:9004193 name: Desmosterolosis alt_id: MIM:602398 xref: MESH:C566555 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004194 name: Isolated Macrothrombocytopenia is_a: DOID:1588 ! thrombocytopenia created_by: mtutaj creation_date: 2022-04-28T10:34:27Z [Term] id: DOID:9004195 name: Bor-Duane Hydrocephalus Contiguous Gene Syndrome alt_id: MIM:600257 synonym: "Branchio-Oto-Renal Duane hydrocephalus contiguous gene syndrome" EXACT [] synonym: "chromosome 8q12.2-q21.2 deletion syndrome" EXACT [] xref: MESH:C536574 is_a: DOID:10908 ! hydrocephalus is_a: DOID:12557 ! Duane retraction syndrome is_a: DOID:14702 ! branchiootorenal syndrome [Term] id: DOID:9004196 name: Leber Optic Atrophy, Susceptibility To synonym: "LEBER HEREDITARY OPTIC NEUROPATHY, MODIFIER OF" EXACT [] synonym: "LHON, modifier of" EXACT [] synonym: "LOAS" EXACT [] xref: MIM:308905 is_a: DOID:705 ! Leber hereditary optic neuropathy created_by: mtutaj creation_date: 2022-03-07T11:54:20Z [Term] id: DOID:9004197 name: Pelvic Neoplasms def: "Tumors or cancer of the pelvic region." [MESH:D010386] synonym: "Cancer of Pelvis" EXACT [] synonym: "Cancer of the Pelvis" EXACT [] synonym: "Neoplasms of Pelvis" EXACT [] synonym: "Pelvic Cancer" EXACT [] synonym: "Pelvic Cancers" EXACT [] synonym: "Pelvic Neoplasm" EXACT [] synonym: "Pelvis Cancer" EXACT [] synonym: "Pelvis Cancers" EXACT [] synonym: "Pelvis Neoplasm" EXACT [] synonym: "Pelvis Neoplasms" EXACT [] xref: MESH:D010386 is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9004198 name: Allergic Rhinosinusitis def: "Inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES due to hypersensitivity to various allergens." [] is_a: DOID:0060496 ! respiratory allergy is_a: DOID:9005941 ! Rhinosinusitis [Term] id: DOID:9004199 name: Hodgkin Disease, X-Linked Pseudoautosomal alt_id: MIM:300221 synonym: "LYMPHOMA, HODGKIN, X-LINKED PSEUDOAUTOSOMAL" EXACT [] xref: MESH:C538326 xref: RDO:0004289 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:8567 ! Hodgkin's lymphoma [Term] id: DOID:9004200 name: Radial Hypoplasia, Triphalangeal Thumbs and Hypospadias alt_id: MIM:179250 synonym: "Radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema" EXACT [] synonym: "Radial hypoplasia triphalangeal thumbs hypospadias maxillary diastema" EXACT [] synonym: "Schmitt Gillenwater Kelly syndrome" EXACT [] xref: MESH:C536262 is_a: DOID:10892 ! hypospadias is_a: DOID:9004595 ! Diastema is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004201 name: Ectopia Lentis def: "Congenital displacement of the lens resulting from defective zonule formation." [MESH:D004479] xref: MESH:D004479 is_a: DOID:11364 ! lens subluxation is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9004202 name: Herpes Labialis def: "Herpes simplex, caused by type 1 virus, primarily spread by oral secretions and usually occurring as a concomitant of fever. It may also develop in the absence of fever or prior illness. It commonly involves the facial region, especially the lips and the nares. (Dorland, 27th ed.)" [MESH:D006560] synonym: "Cold Sore" EXACT [] synonym: "cold sores" EXACT [] synonym: "Fever Blister" EXACT [] synonym: "Fever Blisters" EXACT [] synonym: "labial herpes simplex" EXACT [] xref: EFO:1001347 xref: MESH:D006560 is_a: DOID:8566 ! herpes simplex is_a: DOID:9297 ! lip disease [Term] id: DOID:9004203 name: Chromosome Breakage def: "A type of chromosomal aberration involving DNA BREAKS. Chromosome breakage can result in CHROMOSOMAL TRANSLOCATION; CHROMOSOME INVERSION; or SEQUENCE DELETION." [MESH:D019457] synonym: "Chromosomal Break" EXACT [] synonym: "Chromosomal Breakage" EXACT [] synonym: "Chromosomal Breakages" EXACT [] synonym: "Chromosomal Breaks" EXACT [] synonym: "Chromosome Break" EXACT [] synonym: "Chromosome Breakages" EXACT [] synonym: "Chromosome Breaks" EXACT [] xref: MESH:D019457 xref: RDO:0002130 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9004204 name: Tracheobronchopathia Osteoplastica alt_id: MIM:189961 synonym: "Cartilaginous or bony projections into the tracheobronchial lumen" EXACT [] synonym: "Tracheobronchopathia Osteochondroplastica" EXACT [] synonym: "Tracheopathia osteoplastica" EXACT [] xref: MESH:C536977 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:3225 ! tracheal disease [Term] id: DOID:9004205 name: Left-Right Axis Malformations xref: MESH:C566610 xref: RDO:0014921 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:9004206 name: Thyroglossal Tract Cyst alt_id: MIM:188455 synonym: "Familial thyroglossal duct cyst" EXACT [] synonym: "Hereditary thyroglossal duct cysts" EXACT [] synonym: "Thyroglossal duct cysts familial" EXACT [] xref: MESH:C536909 is_a: DOID:9007559 ! Thyroglossal Cyst [Term] id: DOID:9004207 name: Testicular Neoplasms alt_id: RDO:0006682 def: "Tumors or cancer of the TESTIS. Germ cell tumors (GERMINOMA) of the testis constitute 95% of all testicular neoplasms." [MESH:D013736] synonym: "neoplasm of testis" EXACT [] synonym: "Rete Testis Tumor" EXACT [] synonym: "Rete Testis Tumors" EXACT [] synonym: "Testicular Neoplasm" EXACT [] synonym: "Testicular Tumors" EXACT [] synonym: "testis neoplasm" EXACT [] synonym: "Testis Neoplasms" EXACT [] synonym: "tumor of rete testis" EXACT [] xref: EFO:0004281 xref: MESH:D013736 is_a: DOID:2519 ! testicular disease is_a: DOID:9003125 ! Male Genital Neoplasms is_a: DOID:9007803 ! Endocrine Gland Neoplasms [Term] id: DOID:9004208 name: Traumatic Brain Hemorrhage def: "Bleeding within the brain as a result of penetrating and nonpenetrating CRANIOCEREBRAL TRAUMA. Traumatically induced hemorrhages may occur in any area of the brain, including the CEREBRUM; BRAIN STEM (see BRAIN STEM HEMORRHAGE, TRAUMATIC); and CEREBELLUM." [MESH:D020201] synonym: "Traumatic Brain Hemorrhages" EXACT [] synonym: "Traumatic Cerebellar Hemorrhage" EXACT [] synonym: "Traumatic Cerebellar Hemorrhages" EXACT [] xref: MESH:D020201 is_a: DOID:0081292 ! traumatic brain injury is_a: DOID:9008598 ! Traumatic Intracranial Hemorrhage [Term] id: DOID:9004209 name: Bone Fragility with Contractures, Arterial Rupture, and Deafness synonym: "BCARD" EXACT [] synonym: "BCARD syndrome" EXACT [] synonym: "BONE ABNORMALITIES, CATARACT, ARTERIAL RUPTURE, AND DEAFNESS" EXACT [] synonym: "bone fragility with contractures, arterial rupture, and deafness" EXACT [] synonym: "LH3 Deficiency" EXACT [] synonym: "Lysyl Hydroxylase 3 Deficiency" EXACT [] synonym: "PLOD3-RELATED CONDITION" EXACT [] synonym: "PLOD3-RELATED DISORDER" EXACT [] xref: MESH:C567320 xref: MIM:612394 xref: MONDO:0012892 is_a: DOID:65 ! connective tissue disease is_a: DOID:9006836 ! Contracture is_a: DOID:9008810 ! Spontaneous Rupture [Term] id: DOID:9004210 name: Tympanic Membrane Perforation def: "A temporary or persistent opening in the eardrum (TYMPANIC MEMBRANE). Clinical signs depend on the size, location, and associated pathological condition." [MESH:D018058] synonym: "Eardrum Perforation" EXACT [] synonym: "Tympanic Membrane Rupture" EXACT [] xref: EFO:0009472 xref: MESH:D018058 is_a: DOID:2742 ! auditory system disease is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9004211 name: Dizziness def: "An imprecise term which may refer to a sense of spatial disorientation, motion of the environment, or lightheadedness." [MESH:D004244] synonym: "Dizzyness" EXACT [] synonym: "Light Headedness" EXACT [] synonym: "Lightheadedness" EXACT [] synonym: "Orthostasis" EXACT [] xref: EFO:0009847 xref: MESH:D004244 is_a: DOID:0050155 ! sensory system disease [Term] id: DOID:9004212 name: Mitochondrial Myopathy, Lethal Infantile alt_id: MIM:551000 alt_id: RDO:0008732 alt_id: RDO:0013119 synonym: "LIMM" EXACT [] xref: MESH:C564017 is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:9004213 name: Pachyonychia Congenita 2 synonym: "Jackson-Lawler Syndrome (Pc-2)" EXACT [] synonym: "Jackson-Lawler type pachyonychia congenita" EXACT [] synonym: "Pachyonychia Congenita Type 2" EXACT [] synonym: "PC2" EXACT [] xref: MIM:167210 xref: MONDO:0008174 is_a: DOID:0050449 ! pachyonychia congenita created_by: mtutaj creation_date: 2019-03-26T12:26:12Z [Term] id: DOID:9004216 name: PRIMORDIAL DWARFISM-IMMUNODEFICIENCY-LIPODYSTROPHY SYNDROME def: "This disease is characterized by pre- and postnatal growth restriction, with extreme microcephaly, short stature, and absence of subcutaneous fat. There is also significant hematologic/immune dysfunction, with hypo- or agammaglobulinemia, as well as lymphopenia, anemia, and thrombocytopenia, and most affected individuals succumb to infection in early childhood." [MIM:620005] synonym: "PDIL" EXACT [] xref: MIM:620005 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:811 ! lipodystrophy is_a: DOID:9007661 ! Dwarfism created_by: slaulede creation_date: 2022-12-19T13:40:33Z [Term] id: DOID:9004217 name: Nerve Sheath Neoplasms def: "Neoplasms which arise from nerve sheaths formed by SCHWANN CELLS in the PERIPHERAL NERVOUS SYSTEM or by OLIGODENDROCYTES in the CENTRAL NERVOUS SYSTEM. Malignant peripheral nerve sheath tumors, NEUROFIBROMA, and NEURILEMMOMA are relatively common tumors in this category." [MESH:D018317] synonym: "nerve sheath neoplasm" EXACT [] synonym: "nerve sheath tumor" EXACT [] synonym: "nerve sheath tumors" EXACT [] synonym: "peripheral nerve sheath neoplasm" EXACT [] synonym: "peripheral nerve sheath tumors" EXACT [] synonym: "tumors of the nerve sheath" EXACT [] xref: MESH:D018317 is_a: DOID:1192 ! peripheral nervous system neoplasm is_a: DOID:9002573 ! Nerve Tissue Neoplasms [Term] id: DOID:9004218 name: Pilotto Syndrome synonym: "Cleft lip and palate, congenital heart disease, scoliosis, short stature, and mental retardation" EXACT [] xref: MESH:C537400 is_a: DOID:0060249 ! scoliosis is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:9004219 name: Malformation of Arms alt_id: MIM:107900 xref: MESH:C566258 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9004220 name: Adams-Oliver Syndrome 1 def: "This disease is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly)." [] synonym: "ABSENCE DEFECT OF LIMBS, SCALP, AND SKULL" EXACT [] synonym: "Adams-Oliver syndrome I" EXACT [] synonym: "AOS" EXACT [] synonym: "AOS1" EXACT [] synonym: "APLASIA CUTIS CONGENITA, CONGENITAL HEART DEFECT, AND FRONTONASAL CYSTS" RELATED [] synonym: "APLASIA CUTIS CONGENITA WITH TERMINAL TRANSVERSE LIMB DEFECTS" EXACT [] synonym: "ARHGAP31-RELATED CONDITION" EXACT [] synonym: "CONGENITAL SCALP DEFECTS WITH DISTAL LIMB REDUCTION ANOMALIES" EXACT [] xref: MIM:100300 is_a: DOID:0060227 ! Adams-Oliver syndrome created_by: mtutaj creation_date: 2019-03-15T00:00:00Z [Term] id: DOID:9004221 name: Senior-Loken Syndrome 5 alt_id: MIM:609254 synonym: "SLSN5" EXACT [] xref: MESH:C563763 is_a: DOID:0050576 ! Senior-Loken syndrome [Term] id: DOID:9004222 name: CONGENITAL HEART DEFECTS AND SKELETAL MALFORMATIONS SYNDROME def: "A disease characterized by atrial and ventricular septal defects, with aortic root dilation in adulthood. Failure to thrive is observed during infancy and early childhood." [MIM:617602] synonym: "ABL1-RELATED CONDITION" BROAD [] synonym: "ABL1-RELATED DISORDER" BROAD [] synonym: "CHDSKM" EXACT [] xref: MIM:617602 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: slaulede creation_date: 2020-09-08T14:43:01Z [Term] id: DOID:9004223 name: Chromosome 9, Partial Trisomy 9p synonym: "Duplication 9p partial" EXACT [] synonym: "Trisomy 9p partial" EXACT [] xref: MESH:C538026 xref: RDO:0003960 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9004224 name: Mitochondrial Complex II Deficiency Nuclear Type 4 def: "A severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Caused by homozygous or compound heterozygous mutation in the succinate dehydrogenase complex subunit B gene (SDHB) on chromosome 1p36. (OMIM)" [] synonym: "MC2DN4" EXACT [] xref: MIM:619224 is_a: DOID:0060537 ! mitochondrial complex II deficiency created_by: mtutaj creation_date: 2021-03-09T10:51:31Z [Term] id: DOID:9004225 name: Keratoconus 7 synonym: "KTCN7" EXACT [] xref: MIM:614629 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9004226 name: Hittner Hirsch Kreh Syndrome xref: MESH:C538323 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:10629 ! microphthalmia is_a: DOID:12270 ! coloboma is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004228 name: Familial Hyperaldosteronism xref: MESH:C580087 is_a: DOID:446 ! primary hyperaldosteronism [Term] id: DOID:9004230 name: DEVELOPMENTAL DELAY, HYPOTONIA, MUSCULOSKELETAL DEFECTS, AND BEHAVIORAL ABNORMALITIES def: "This disease is an early-onset neurodevelopmental disorder and is characterized by developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities." [MIM:619595] synonym: "DEHMBA" EXACT [] synonym: "SRCAP-RELATED CONDITION" BROAD [] xref: MIM:619595 is_a: DOID:150 ! disease of mental health is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2022-02-04T12:29:28Z [Term] id: DOID:9004231 name: Wallerian Degeneration of the Pyramidal Tract xref: MESH:C531847 is_a: DOID:9002498 ! Wallerian Degeneration [Term] id: DOID:9004233 name: Olivopontocerebellar Atrophy II, Autosomal Recessive alt_id: MIM:258300 synonym: "cerebellar ataxia and albinism" EXACT [] synonym: "olivopontocerebellar ataxia II, Fickler-Winkler type" EXACT [] synonym: "OPCA II, Fickler-Winkler Type" EXACT [] xref: MESH:C564930 is_a: DOID:14784 ! olivopontocerebellar atrophy [Term] id: DOID:9004234 name: Baby Rattle Pelvis Dysplasia alt_id: MIM:605838 xref: MESH:C565282 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9004235 name: Familial Spinal Arachnoiditis alt_id: MIM:182950 synonym: "Spinal arachnoiditis" EXACT [] synonym: "Spinal tuberculous arachnoiditis" EXACT [] xref: MESH:C531624 is_a: DOID:12156 ! arachnoiditis [Term] id: DOID:9004236 name: Autoimmune Hypothyroidism alt_id: RDO:0012343 xref: MESH:C562768 relationship: part_of DOID:9007355 ! Hashimoto Disease [Term] id: DOID:9004237 name: Hyperoxic Lung Injury def: "Damage to any compartment of the lung caused by an abnormal increase in the amount of oxygen." [] is_a: DOID:9000310 ! Lung Injury is_a: DOID:9007480 ! Hyperoxia [Term] id: DOID:9004238 name: Adams-Stokes Syndrome def: "A condition of fainting spells caused by heart block, often an atrioventricular block, that leads to BRADYCARDIA and drop in CARDIAC OUTPUT. When the cardiac output becomes too low, the patient faints (SYNCOPE). In some cases, the syncope attacks are transient and in others cases repetitive and persistent." [MESH:D000219] synonym: "Adam Stokes Attacks" EXACT [] synonym: "Stokes Adams Attacks" EXACT [] xref: MESH:D000219 is_a: DOID:225 ! syndrome is_a: DOID:9003163 ! Heart Block [Term] id: DOID:9004239 name: Cousin Syndrome alt_id: MIM:260660 alt_id: RDO:0000731 alt_id: RDO:0008442 synonym: "Craniofacial Dysmorphism, Hypoplasia of Scapula and Pelvis, and Short Stature" EXACT [] synonym: "Pelvic shoulder dysplasia" EXACT [] synonym: "PELVISCAPULAR DYSPLASIA" EXACT [] xref: MESH:C535550 is_a: DOID:1934 ! dysostosis is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004240 name: Phyllodes Tumor def: "A type of connective tissue neoplasm typically arising from intralobular stroma of the breast. It is characterized by the rapid enlargement of an asymmetric firm mobile mass. Histologically, its leaf-like stromal clefts are lined by EPITHELIAL CELLS. Rare phyllodes tumor of the prostate is also known." [MESH:D003557] synonym: "cystosarcoma phyllodes" EXACT [] synonym: "cystosarcoma phylloides" EXACT [] synonym: "phyllodes tumors" EXACT [] xref: EFO:0000653 xref: MESH:D003557 is_a: DOID:1115 ! sarcoma [Term] id: DOID:9004241 name: Infantile Myofibromatosis 1 synonym: "IMF1" EXACT [] xref: MIM:228550 is_a: DOID:0080109 ! infantile myofibromatosis [Term] id: DOID:9004242 name: Endemic Treponematosis caused by Treponema Carateum xref: MESH:C531782 xref: RDO:0000196 is_a: DOID:1022 ! pinta disease [Term] id: DOID:9004243 name: Muller Barth Menger Syndrome alt_id: MIM:213820 synonym: "Cerebral malformation, seizures, hypertrichosis, and overlapping fingers" EXACT [] xref: MESH:C537370 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004244 name: Polyendocrine-Polyneuropathy Syndrome synonym: "PEPNS" EXACT [] xref: MIM:616113 xref: RDO:9000654 is_a: DOID:1389 ! polyneuropathy is_a: DOID:225 ! syndrome is_a: DOID:28 ! endocrine system disease [Term] id: DOID:9004245 name: Irritable Heart synonym: "soldiers heart" EXACT [] xref: MESH:C531763 is_a: DOID:9004453 ! Orthostatic Intolerance [Term] id: DOID:9004246 name: Meningeal Carcinomatosis def: "Primary or secondary neoplasm in the ARACHNOID or SUBARACHNOID SPACE. It appears as a diffuse fibrotic thickening of the MENINGES associated with variable degrees of inflammation." [MESH:D055756] synonym: "Carcinomatous Meningitides" EXACT [] synonym: "Carcinomatous Meningitis" EXACT [] synonym: "Leptomeningeal Carcinomatoses" EXACT [] synonym: "Leptomeningeal Carcinomatosis" EXACT [] synonym: "Meningeal Carcinomatoses" EXACT [] xref: MESH:D055756 xref: RDO:0007721 is_a: DOID:9007166 ! Meningeal Neoplasms [Term] id: DOID:9004247 name: Craniofaciofrontodigital Syndrome alt_id: MIM:114620 synonym: "Cantu Craniofaciofrontodigital Syndrome" EXACT [] xref: MESH:C567298 is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004248 name: Chilblains def: "Recurrent localized itching, swelling and painful erythema on the fingers, toes or ears, produced by exposure to cold." [MESH:D002647] synonym: "Chilblain" EXACT [] synonym: "Idiopathic Pernioses" EXACT [] synonym: "Idiopathic Perniosis" EXACT [] synonym: "Pernio" EXACT [] synonym: "Pernios" EXACT [] synonym: "Pernioses" EXACT [] synonym: "Perniosis" EXACT [] xref: MESH:D002647 is_a: DOID:9006668 ! Frostbite [Term] id: DOID:9004249 name: Dental Leakage def: "The seepage of fluids, debris, and micro-organisms between the walls of a prepared dental cavity and the restoration." [MESH:D003763] synonym: "Dental Leakages" EXACT [] xref: MESH:D003763 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9004250 name: Hepatic Insufficiency def: "Conditions in which the LIVER functions fall below the normal ranges. Severe hepatic insufficiency may cause LIVER FAILURE or DEATH. Treatment may include LIVER TRANSPLANTATION." [MESH:D048550] synonym: "Liver Insufficiency" EXACT [] xref: MESH:D048550 is_a: DOID:409 ! liver disease [Term] id: DOID:9004251 name: Ruvalcaba Churesigaew Myhre Syndrome xref: MESH:C537190 xref: RDO:0002979 is_a: DOID:225 ! syndrome is_a: DOID:3911 ! progeria [Term] id: DOID:9004252 name: Vascular Fistula def: "An abnormal passage between two or more BLOOD VESSELS, between ARTERIES; VEINS; or between an artery and a vein." [MESH:D016157] synonym: "Vascular Fistulas" EXACT [] xref: MESH:D016157 is_a: DOID:178 ! vascular disease is_a: DOID:9003191 ! Vascular Malformations is_a: DOID:9007343 ! Fistula [Term] id: DOID:9004253 name: Immunoblastic Lymphadenopathy def: "A disorder characterized by proliferation of arborizing small vessels, prominent immunoblastic proliferations and amorphous acidophilic interstitial material. Clinical manifestations include fever, sweats, weight loss, generalized lymphadenopathy and frequently hepatosplenomegaly." [MESH:D007119] synonym: "Angioimmunoblastic Lymphadenopathies" EXACT [] synonym: "Angioimmunoblastic Lymphadenopathy" EXACT [] synonym: "Immunoblastic Lymphadenopathies" EXACT [] xref: EFO:1001350 xref: MESH:D007119 xref: RDO:0005879 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:9004150 ! Lymphadenopathy [Term] id: DOID:9004254 name: Progressive Encephalomyelitis with Rigidity xref: MESH:C566113 xref: RDO:0014570 is_a: DOID:640 ! encephalomyelitis is_a: DOID:9001480 ! Muscle Rigidity [Term] id: DOID:9004255 name: Cataract, Sutural, with Punctate and Cerulean Opacities xref: MESH:C564619 is_a: DOID:83 ! cataract [Term] id: DOID:9004256 name: Rozin Hertz Goodman Syndrome alt_id: MIM:602612 synonym: "Camptodactyly, joint contractures, facial skeletal defects" EXACT [] synonym: "Camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye" EXACT [] xref: MESH:C535876 is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004257 name: Pneumonia, Ventilator-Associated def: "Serious INFLAMMATION of the LUNG in patients who required the use of PULMONARY VENTILATOR. It is usually caused by cross bacterial infections in hospitals (NOSOCOMIAL INFECTIONS)." [MESH:D053717] xref: EFO:1001865 xref: MESH:D053717 is_a: DOID:552 ! pneumonia is_a: DOID:9000945 ! Ventilator-Induced Lung Injury is_a: DOID:9008485 ! Cross Infection [Term] id: DOID:9004258 name: Amyloid Neuropathies, Primary (nonfamilial) xref: MESH:C531615 is_a: DOID:9006478 ! Amyloid Neuropathies [Term] id: DOID:9004259 name: Primary Malignant Melanoma of the Cervix synonym: "Primary malignant melanoma of the cervix uteri" EXACT [] synonym: "Primary malignant melanoma of the uterine cervix" EXACT [] synonym: "Radiation induced malignant melanoma of the cervix" EXACT [] xref: MESH:C536417 is_a: DOID:4413 ! cervix melanoma [Term] id: DOID:9004260 name: Zimmerman Laband Syndrome synonym: "Laband syndrome" EXACT [] synonym: "Zimmermann-Laband syndrome" EXACT [] xref: MESH:C536725 xref: MIM:PS135500 is_a: DOID:0060466 ! gingival fibromatosis is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004261 name: Visna def: "Demyelinating leukoencephalomyelitis of sheep caused by the VISNA-MAEDI VIRUS. It is similar to but not the same as SCRAPIE." [MESH:D016182] synonym: "Ovine Encephalomyelitides" EXACT [] synonym: "Ovine Encephalomyelitis" EXACT [] synonym: "Visnas" EXACT [] xref: EFO:0007542 xref: MESH:D016182 is_a: DOID:9004448 ! Slow Virus Diseases is_a: DOID:9005091 ! Lentivirus Infections is_a: DOID:9006097 ! Sheep Diseases [Term] id: DOID:9004262 name: Isolated Systolic Hypertension def: "Hypertension with elevated systolic and normal diastolic blood pressure. It is the most common subtype in the elderly and is related to VASCULAR STIFFNESS and ATHEROSCLEROTIC PLAQUE buildup." [] synonym: "Systolic Hypertension" EXACT [] xref: MESH:D000092244 is_a: DOID:10763 ! hypertension created_by: mtutaj creation_date: 2022-12-12T14:40:07Z [Term] id: DOID:9004263 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND GROSS MOTOR AND SPEECH DELAY def: "This disease is an autosomal recessive disorder characterized by severe global developmental delay apparent from infancy. Affected individuals have axial hypotonia and limited ability to walk." [MIM:619639] synonym: "NEDHMS" EXACT [] xref: MIM:619639 is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2022-02-10T18:15:30Z [Term] id: DOID:9004264 name: Cyclodialysis Clefts def: "Finding of a separation of the CILIARY BODY in the SCLERAL SPUR region, creating aqueous outflow from the ANTERIOR CHAMBER into suprachoroidal space between the CHOROID and the SCLERA. Persistent cyclodialysis clefts may be associated with OCULAR HYPOTENSION and OPTIC DISC EDEMA. (MESH)" [] synonym: "Cyclodialysis Cleft" EXACT [] synonym: "Persistent Cyclodialysis Clefts" EXACT [] synonym: "Traumatic Cyclodialysis" EXACT [] xref: MESH:D000080322 is_a: DOID:9006562 ! Choroidal Effusions created_by: mtutaj creation_date: 2020-01-30T14:50:14Z [Term] id: DOID:9004265 name: Endometrioid Carcinomas def: "An adenocarcinoma characterized by the presence of cells resembling the glandular cells of the ENDOMETRIUM. It is a common histological type of ovarian CARCINOMA and ENDOMETRIAL CARCINOMA. There is a high frequency of co-occurrence of this form of adenocarcinoma in both tissues." [MESH:D018269] synonym: "ENDOMETRIAL ENDOMETRIOID ADENOCARCINOMA, VARIANT WITH SQUAMOUS DIFFERENTIATION" NARROW [] synonym: "endometrioid adenocarcinoma" EXACT [] synonym: "endometrioid adenocarcinomas" EXACT [] synonym: "endometrioid carcinoma" EXACT [] synonym: "stage I endometrioid carcinoma" NARROW [] synonym: "stage II endometrioid carcinoma" NARROW [] xref: EFO:0000205 xref: EFO:0000206 xref: EFO:0000466 xref: MESH:D018269 is_a: DOID:2871 ! endometrial carcinoma [Term] id: DOID:9004266 name: Patellar Dislocation def: "Displacement of the PATELLA from the femoral groove." [MESH:D031222] synonym: "Patellar Dislocations" EXACT [] xref: MESH:D031222 is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9008290 ! Knee Injuries [Term] id: DOID:9004267 name: Palmoplantar Hyperkeratosis and True Hermaphroditism xref: MESH:C567165 xref: RDO:0015313 is_a: DOID:0111760 ! 46,XX sex reversal is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:9004268 name: Uterine Neoplasms def: "Tumors or cancer of the UTERUS." [MESH:D014594] synonym: "neoplasm of uterus" EXACT [] synonym: "tumour of uterus" EXACT [] synonym: "uterine neoplasm" EXACT [] synonym: "uterine tumor" EXACT [] synonym: "uterus neoplasm" EXACT [] synonym: "uterus neoplasms" EXACT [] xref: EFO:0003859 xref: MESH:D014594 is_a: DOID:345 ! uterine disease is_a: DOID:9007399 ! Female Genital Neoplasms [Term] id: DOID:9004269 name: Chromothripsis def: "Massive number of chromosomal rearrangements and shattering that occurs in cancer cells. The breakpoints are located within one chromosome or chromosome arm." [MESH:D000072837] synonym: "Chromosome Shattering" EXACT [] synonym: "Chromosome Shatterings" EXACT [] synonym: "Chromothripses" EXACT [] xref: MESH:D000072837 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9004270 name: Generalized Epidermolysis Bullosa Simplex 2B synonym: "EBS2B" EXACT [] synonym: "epidermolysis bullosa simplex 2B, Koebner type" EXACT [] synonym: "generalized intermediate epidermolysis bullosa simplex-2B" EXACT [] xref: MIM:619588 is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type created_by: mtutaj creation_date: 2021-11-03T12:02:32Z [Term] id: DOID:9004271 name: Colonic Polyps def: "Discrete tissue masses that protrude into the lumen of the COLON. These POLYPS are connected to the wall of the colon either by a stalk, pedunculus, or by a broad base." [MESH:D003111] synonym: "Colonic Polyp" EXACT [] synonym: "Colon Juvenile Polyp" NARROW [] synonym: "COLON POLYPS" EXACT [] synonym: "Colon Sessile Serrated Adenoma/Polyp" NARROW [] xref: EFO:1000185 xref: EFO:1000189 xref: MESH:D003111 xref: MONDO:0021400 is_a: DOID:9001642 ! Intestinal Polyps [Term] id: DOID:9004272 name: Varicose Ulcer def: "Skin breakdown or ulceration in the drainage area of a VARICOSE VEIN, usually in the leg." [MESH:D014647] synonym: "Stasis Ulcer" EXACT [] synonym: "Stasis Ulcers" EXACT [] synonym: "Varicose Ulcers" EXACT [] synonym: "Venous Hypertension Ulcer" EXACT [] synonym: "Venous Hypertension Ulcers" EXACT [] synonym: "Venous Stasis Ulcer" EXACT [] synonym: "Venous Stasis Ulcers" EXACT [] synonym: "Venous Ulcer" EXACT [] synonym: "Venous Ulcers" EXACT [] xref: EFO:1001923 xref: MESH:D014647 is_a: DOID:799 ! varicose veins is_a: DOID:9001347 ! Leg Ulcer [Term] id: DOID:9004273 name: Anaplastic Small Cell Lymphoma synonym: "Small cell variant of anaplastic large cell lymphoma" EXACT [] xref: MESH:C538255 xref: RDO:0004209 is_a: DOID:0060060 ! non-Hodgkin lymphoma [Term] id: DOID:9004274 name: Abdomen, Acute def: "A clinical syndrome with acute abdominal pain that is severe, localized, and rapid in onset. Acute abdomen may be caused by a variety of disorders, injuries, or diseases." [MESH:D000006] synonym: "Acute Abdomens" EXACT [] xref: MESH:D000006 xref: RDO:0004683 is_a: DOID:9005734 ! Abdominal Pain [Term] id: DOID:9004275 name: Stomach Rupture def: "Bursting of the STOMACH." [MESH:D013275] synonym: "Gastric Rupture" EXACT [] synonym: "Gastric Ruptures" EXACT [] synonym: "Stomach Ruptures" EXACT [] xref: EFO:1001851 xref: MESH:D013275 is_a: DOID:76 ! stomach disease is_a: DOID:9001932 ! Abdominal Injuries is_a: DOID:9005630 ! Rupture [Term] id: DOID:9004276 name: Thrombocythemia 3 synonym: "THCYT3" EXACT [] synonym: "THROMBOCYTOSIS 3" EXACT [] xref: MIM:614521 is_a: DOID:2228 ! thrombocytosis [Term] id: DOID:9004277 name: Lessel-Kubisch Syndrome alt_id: MIM:618681 def: "A disease characterized by short stature and progeroid features, including prematurely gray hair, pinched facies, and scleroderma-like skin changes." [] synonym: "LSKB" EXACT [] xref: EFO:0010632 is_a: DOID:9002644 ! Premature Aging is_a: DOID:9007661 ! Dwarfism created_by: slaulede creation_date: 2020-01-10T14:36:16Z [Term] id: DOID:9004278 name: Sarcoma, Yoshida def: "An experimental sarcoma of rats." [MESH:D012517] synonym: "Reticulum Cell Like Sarcoma, Yoshida" EXACT [] xref: MESH:D012517 is_a: DOID:9005474 ! Experimental Sarcoma [Term] id: DOID:9004279 name: Forearm Injuries def: "Injuries to the part of the upper limb of the body between the wrist and elbow." [MESH:D005543] synonym: "Forearm Injury" EXACT [] xref: MESH:D005543 is_a: DOID:9003309 ! Arm Injuries [Term] id: DOID:9004281 name: Tricho-Dento-Osseous Syndrome 1 xref: MESH:C536550 xref: RDO:0002165 is_a: DOID:0080001 ! bone disease is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:421 ! hair disease is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9004282 name: Fractures, Compression def: "Crumbling or smashing of cancellous BONE by forces acting parallel to the long axis of bone. It is applied particularly to vertebral body fractures (SPINAL FRACTURES). (Blauvelt and Nelson, A Manual of Orthopedic Terminology, 1994, p4)" [MESH:D050815] synonym: "Compression Fracture" EXACT [] xref: MESH:D050815 xref: RDO:0007576 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9004283 name: Transplant Rejection def: "A process in which a transplant recipient's immune system attacks the transplanted organ or tissue. The rejection can be hyperacute (occurring within a few minutes), acute (occurring within days to months), or chronic (occurring over many years)." [] is_a: DOID:2914 ! immune system disease [Term] id: DOID:9004285 name: Paroxysmal Nocturnal Hemoglobinuria 1 synonym: "PNH1" EXACT [] xref: MIM:300818 is_a: DOID:0060284 ! paroxysmal nocturnal hemoglobinuria created_by: mtutaj creation_date: 2022-07-26T10:41:15Z [Term] id: DOID:9004286 name: Hirschsprung Disease 1 synonym: "Hirschsprung disease type 1" EXACT [] xref: MESH:C538540 xref: RDO:0004483 is_a: DOID:10487 ! Hirschsprung's disease [Term] id: DOID:9004287 name: Phantom Limb def: "Perception of painful and nonpainful phantom sensations that occur following the complete or partial loss of a limb. The majority of individuals with an amputated extremity will experience the impression that the limb is still present, and in many cases, painful. (From Neurol Clin 1998 Nov;16(4):919-36; Brain 1998 Sep;121(Pt 9):1603-30)" [MESH:D010591] synonym: "Phantom Limb Pain" EXACT [] synonym: "Phantom Limb Pains" EXACT [] synonym: "Phantom Limbs" EXACT [] synonym: "Phantom Pain" EXACT [] synonym: "Phantom Pains" EXACT [] synonym: "Phantom Sensation" EXACT [] synonym: "Phantom Sensations" EXACT [] synonym: "Pseudomelia" EXACT [] synonym: "Pseudomelias" EXACT [] xref: MESH:D010591 is_a: DOID:9003971 ! Postoperative Pain is_a: DOID:9004523 ! Perceptual Disorders [Term] id: DOID:9004288 name: Hemorrhagic Shock and Encephalopathy Syndrome xref: MESH:C537254 is_a: DOID:225 ! syndrome is_a: DOID:9001708 ! Hemorrhagic Shock is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Term] id: DOID:9004289 name: Drug-Induced Leukopenia def: "Leukopenia associated with chemotherapy or other drug treatment." [] synonym: "chemotherapy-induced leukopenia" EXACT [] synonym: "drug-induced leucopenia" EXACT [] synonym: "drug-induced leukocytopenia" EXACT [] xref: RDO:9001221 is_a: DOID:615 ! leukopenia created_by: rgd creation_date: 2016-07-22T00:00:00Z [Term] id: DOID:9004290 name: Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination def: "A syndromic form of severe to profound intellectual disability with onset of delayed psychomotor development and seizures in infancy. Additional features include hypotonia, feeding difficulties resulting in failure to thrive, and inability to speak or walk. Brain imaging shows cerebral atrophy and delayed myelination. (OMIM)" [] synonym: "NACC1-RELATED CONDITION" EXACT [] synonym: "NACC1-RELATED DISORDER" EXACT [] synonym: "NECFM" EXACT [] xref: MIM:617393 is_a: DOID:1826 ! epilepsy is_a: DOID:83 ! cataract is_a: DOID:8670 ! eating disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:9004291 name: Osteootohepatoenteric Syndrome def: "Characterized by a variable combination of bone fragility, hearing loss, cholestasis, and congenital diarrhea. Caused by compound heterozygous mutation in the UNC45A gene on chromosome 15q26. (OMIM)" [] synonym: "O2HE" EXACT [] synonym: "OOHE" EXACT [] synonym: "osteo-oto-hepato-enteric syndrome" EXACT [] xref: MIM:619377 xref: NCI:C201597 is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:0080001 ! bone disease is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome is_a: DOID:9004538 ! Hearing Loss created_by: mtutaj creation_date: 2021-06-11T12:13:39Z [Term] id: DOID:9004292 name: MOMES Syndrome alt_id: MIM:606772 synonym: "impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies" EXACT [] synonym: "Mental Retardation, Obesity, Mandibular Prognathism, and Eye and Skin Anomalies" EXACT [] xref: MESH:C564660 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:3310 ! atopic dermatitis is_a: DOID:9003576 ! Prognathism is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9970 ! obesity [Term] id: DOID:9004293 name: Congenital Ptosis, Hereditary 2 alt_id: MIM:300245 alt_id: RDO:0013478 synonym: "PTOS2" EXACT [] synonym: "Ptosis, X-Linked" EXACT [] synonym: "PTOSX" EXACT [] xref: MESH:C564553 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0060261 ! congenital ptosis [Term] id: DOID:9004294 name: Prosthesis Failure def: "Malfunction of implantation shunts, valves, etc., and prosthesis loosening, migration, and breaking." [MESH:D011475] synonym: "Prosthesis Durabilities" EXACT [] synonym: "Prosthesis Durability" EXACT [] synonym: "Prosthesis Failures" EXACT [] synonym: "Prosthesis Loosening" EXACT [] synonym: "Prosthesis Loosenings" EXACT [] synonym: "Prosthesis Migration" EXACT [] synonym: "Prosthesis Migrations" EXACT [] synonym: "Prosthesis Survival" EXACT [] synonym: "Prosthesis Survivals" EXACT [] xref: MESH:D011475 xref: RDO:0006420 is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9004295 name: Periventricular Nodular Heterotopia 6 alt_id: RDO:9000989 synonym: "PVNH6" EXACT [] xref: MIM:615544 is_a: DOID:0050454 ! periventricular nodular heterotopia [Term] id: DOID:9004296 name: Hypokalemic Periodic Paralysis, Type 1 synonym: "HOKPP1" EXACT [] synonym: "hypokalemic periodic paralysis 1" EXACT [] xref: MIM:170400 is_a: DOID:14452 ! hypokalemic periodic paralysis [Term] id: DOID:9004297 name: Warfarin Syndrome synonym: "Congenital warfarin syndrome" EXACT [] synonym: "Coumarin syndrome" EXACT [] synonym: "DiSala syndrome" EXACT [] synonym: "Fetal anticoagulant syndrome" EXACT [] synonym: "Warfarin embryopathy" EXACT [] xref: MESH:C536683 is_a: DOID:225 ! syndrome is_a: DOID:9007828 ! Abnormalities, Drug-Induced [Term] id: DOID:9004298 name: Prostate Cancer/Brain Cancer Susceptibility alt_id: RDO:0008899 synonym: "CAPB" EXACT [] synonym: "PCBC" EXACT [] xref: MIM:603688 is_a: DOID:10283 ! prostate cancer is_a: DOID:1319 ! brain cancer [Term] id: DOID:9004299 name: Al Gazali Sabrinathan Nair Syndrome xref: MESH:C535617 is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome is_a: DOID:5679 ! retinal disease is_a: DOID:5723 ! optic atrophy is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9004300 name: Urioste Martinez-Frias Syndrome alt_id: MIM:235255 synonym: "MULLERIAN DERIVATIVES, PERSISTENCE OF, WITH LYMPHANGIECTASIA AND POSTAXIAL POLYDACTYLY" EXACT [] synonym: "Urioste syndrome" EXACT [] xref: MESH:C536478 is_a: DOID:11383 ! cryptorchidism is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome is_a: DOID:9003766 ! 46, XY Disorders of Sex Development is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004301 name: Solid Pseudopapillary Neoplasm of the Pancreas def: "This is a low-grade malignant neoplasm that arises from the exocrine pancreas. It is characterized by the presence of uniform cells that form solid and pseudopapillary patterns, cystic changes, and hemorrhage. Perineural invasion, vascular invasion, and invasion into surrounding tissues may be present. It usually presents as an encapsulated, solitary, and lobulated pancreatic mass." [NCI:C37212] synonym: "Solid Pseudopapillary Tumor of the Pancreas" EXACT [] xref: EFO:1000542 is_a: DOID:1795 ! malignant exocrine pancreas neoplasm created_by: slaulede creation_date: 2023-02-23T15:47:26Z [Term] id: DOID:9004302 name: Sexually Transmitted Diseases def: "Diseases due to or propagated by sexual contact." [MESH:D012749] synonym: "Sexually Transmitted Disease" EXACT [] synonym: "Sexually Transmitted Infection" EXACT [] synonym: "Sexually Transmitted Infections" EXACT [] synonym: "STI" EXACT [] synonym: "Venereal Disease" EXACT [] synonym: "Venereal Diseases" EXACT [] xref: MESH:D012749 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:229 ! female reproductive system disease is_a: DOID:48 ! male reproductive system disease is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9004303 name: Tubulointerstitial Fibrosis def: "A pathological condition where fibrous connective tissue invades the tubules and interstitium of the kidney." [] synonym: "renal interstitial fibrosis" NARROW [] xref: RDO:9000788 is_a: DOID:0050855 ! renal fibrosis created_by: rgd creation_date: 2015-09-23T00:00:00Z [Term] id: DOID:9004304 name: Plummer-Vinson Syndrome def: "A syndrome of DYSPHAGIA with IRON-DEFICIENCY ANEMIA that is due to congenital anomalies in the ESOPHAGUS (such as cervical esophageal webs). It is known as Patterson-Kelly syndrome in the United Kingdom." [MESH:D011004] synonym: "Kelly's syndrome" EXACT [] synonym: "Kellys Syndrome" EXACT [] synonym: "Kelly Syndrome" EXACT [] synonym: "Patterson's Syndrome" EXACT [] synonym: "Patterson Brown Kelly Syndrome" EXACT [] synonym: "Patterson Kelly Syndrome" EXACT [] synonym: "Pattersons Syndrome" EXACT [] synonym: "Patterson syndrome" EXACT [] xref: MESH:D011004 is_a: DOID:225 ! syndrome is_a: DOID:9192 ! dyskinesia of esophagus [Term] id: DOID:9004305 name: Sohval Soffer Syndrome synonym: "Congenital testicular deficiency" EXACT [] xref: MESH:C536679 is_a: DOID:225 ! syndrome is_a: DOID:2519 ! testicular disease [Term] id: DOID:9004306 name: Peptic Ulcer Hemorrhage def: "Bleeding from a PEPTIC ULCER that can be located in any segment of the GASTROINTESTINAL TRACT." [MESH:D010438] synonym: "Peptic Ulcer Hemorrhages" EXACT [] xref: MESH:D010438 is_a: DOID:9008975 ! Gastrointestinal Hemorrhage [Term] id: DOID:9004307 name: Alazami Syndrome def: "A syndromic form of primordial dwarfism, a condition characterized by severe growth restriction that has its onset in utero, and results in short stature and undersize. ALAZS patients manifest severe intellectual disability and distinct facial features including malar hypoplasia, deep-set eyes, broad nose, short philtrum, and macrostomia. Some patients have non-specific and inconsistent skeletal findings, for example, scoliosis and mild epiphyseal changes in the proximal phalanges, but no frank dysplasia." [] synonym: "ALAZS" EXACT [] synonym: "facial dysmorphism, intellectual disability, and primordial dwarfism" EXACT [] synonym: "LARP7-RELATED CONDITION" EXACT [] xref: MIM:615071 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9002811 ! Facial Dysmorphism with Multiple Malformations is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004308 name: Nervous System Lead Poisoning, Childhood def: "Neurologic disorders occurring in children following lead exposure. The most frequent manifestation of childhood lead toxicity is an encephalopathy associated with chronic ingestion of lead that usually presents between the ages of 1 and 3 years. Clinical manifestations include behavioral changes followed by lethargy; CONVULSIONS; HALLUCINATIONS; DELIRIUM; ATAXIA; and vomiting. Elevated intracranial pressure (HYPERTENSION, INTRACRANIAL) and CEREBRAL EDEMA may occur. (From Adams et al., Principles of Neurology, 6th ed, p1210-2)" [MESH:D020264] synonym: "Childhood Lead Encephalopathy" EXACT [] synonym: "Childhood Neurologic Saturnism" EXACT [] synonym: "Childhood Saturine Encephalopathy" EXACT [] synonym: "Lead Induced Nervous System Disease, Childhood" EXACT [] synonym: "Neurologic Lead Poisoning, Childhood" EXACT [] synonym: "Neurologic Plumbism, Childhood" EXACT [] synonym: "Neurotoxicity Syndrome, Lead, Childhood" EXACT [] xref: MESH:D020264 is_a: DOID:9007159 ! Nervous System Lead Poisoning [Term] id: DOID:9004309 name: Congenital Aural Atresia synonym: "CAA" EXACT [] synonym: "congenital aural atresia with hyposmia" EXACT [] synonym: "TSHZ1-RELATED CONDITION" EXACT [] xref: MESH:C564321 xref: MIM:607842 xref: MONDO:0011921 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9004310 name: Snijders Blok-Fisher Syndrome def: "A neurodevelopmental disorder characterized by global developmental delay, hypotonia, variable impaired intellectual development, and specifically impaired speech and language acquisition. Patients achieve independent ambulation. Dysmorphic features include abnormal, cupped, or prominent ears and ocular anomalies." [MIM:618604] synonym: "SNIBFIS" EXACT [] xref: EFO:0010634 xref: MIM:618604 is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2019-11-14T14:58:51Z [Term] id: DOID:9004311 name: Zadik Barak Levin Syndrome alt_id: RDO:0002384 synonym: "Dermoid cysts, hypothyroidism, cleft palate, and hypodontia" EXACT [] xref: MESH:C536721 is_a: DOID:13714 ! anodontia is_a: DOID:1459 ! hypothyroidism is_a: DOID:225 ! syndrome is_a: DOID:2658 ! dermoid cyst is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004312 name: Mixed Sclerosing Bone Dystrophy xref: MESH:C537479 xref: RDO:0003325 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:9004313 name: Epidermodysplasia Verruciformis 5 synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 5" EXACT [] synonym: "EV5" EXACT [] xref: MIM:618309 is_a: DOID:13777 ! epidermodysplasia verruciformis created_by: mtutaj creation_date: 2019-02-13T00:00:00Z [Term] id: DOID:9004314 name: Short-Rib Thoracic Dysplasia 15 with Polydactyly synonym: "SRTD15" EXACT [] xref: MIM:617088 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy created_by: rgd creation_date: 2016-09-12T00:00:00Z [Term] id: DOID:9004315 name: Premature Atherosclerosis with Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease alt_id: MIM:209010 xref: MESH:C565928 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1936 ! atherosclerosis is_a: DOID:3330 ! partial sensory epilepsy is_a: DOID:557 ! kidney disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9004316 name: Oculocerebrocutaneous Syndrome alt_id: MIM:164180 synonym: "Delleman syndrome" EXACT [] synonym: "Oculo-cerebro-cutaneous syndrome" EXACT [] synonym: "Orbital cyst with cerebral and focal dermal malformations" EXACT [] xref: MESH:C538088 is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9003857 ! Central Nervous System Cysts is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9004317 name: Hand Injuries def: "General or unspecified injuries to the hand." [MESH:D006230] synonym: "hand injury" EXACT [] xref: MESH:D006230 is_a: DOID:9003309 ! Arm Injuries [Term] id: DOID:9004318 name: Nonphotosensitive Trichothiodystrophy 9 def: "Characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly, and neuromotor developmental delay. Caused by homozygous mutation in the MARS1 gene on chromosome 12q13." [MIM:619692] synonym: "TTD9" EXACT [] xref: MIM:619692 is_a: DOID:0111867 ! nonphotosensitive trichothiodystrophy created_by: mtutaj creation_date: 2022-01-06T14:35:21Z [Term] id: DOID:9004319 name: Ventricular Outflow Obstruction def: "Occlusion of the outflow tract in either the LEFT VENTRICLE or the RIGHT VENTRICLE of the heart. This may result from CONGENITAL HEART DEFECTS, predisposing heart diseases, complications of surgery, or HEART NEOPLASMS." [MESH:D014694] synonym: "Ventricular Outflow Obstructions" EXACT [] xref: EFO:1001448 xref: MESH:D014694 is_a: DOID:114 ! heart disease [Term] id: DOID:9004320 name: Karak Syndrome xref: MESH:C548029 is_a: DOID:225 ! syndrome is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:9004321 name: Corneal Injuries def: "Damage or trauma inflicted to the CORNEA by external means." [MESH:D065306] synonym: "Cornea Injuries" EXACT [] synonym: "Cornea Injury" EXACT [] synonym: "Corneal Damage" EXACT [] synonym: "Corneal Damages" EXACT [] synonym: "Corneal Injury" EXACT [] synonym: "Corneal Scar" EXACT [] synonym: "Corneal Scars" EXACT [] synonym: "Corneal Trauma" EXACT [] synonym: "Corneal Traumas" EXACT [] xref: MESH:D065306 xref: RDO:0015959 is_a: DOID:10124 ! corneal disease is_a: DOID:9006447 ! Eye Injuries [Term] id: DOID:9004322 name: Craniosynostosis with Anomalies of the Cranial Base and Digits alt_id: MIM:218530 xref: MESH:C565666 is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9004323 name: Retinitis Pigmentosa with Paraarteriolar Preservation Of Retinal Pigment Epithelium synonym: "Retinitis Pigmentosa, PRPE Type" EXACT [] synonym: "RP with Preserved Paraarteriole Retinal Pigment Epithelium" EXACT [] xref: MESH:C564000 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9004324 name: Congenital, Hereditary, and Neonatal Diseases and Abnormalities def: "Diseases existing at birth and often before birth, or that develop during the first month of life (INFANT, NEWBORN, DISEASES), regardless of causation. Of these diseases, those characterized by structural deformities are termed CONGENITAL ABNORMALITIES." [MESH:D009358] subset: RGD_JBrowse_slim synonym: "Congenital Disorder" EXACT [] synonym: "Congenital Disorders" EXACT [] synonym: "Neonatal Diseases and Abnormalities" EXACT [] xref: MESH:D009358 is_a: DOID:9008582 ! Developmental Disease [Term] id: DOID:9004327 name: Colpocephaly xref: MESH:C535973 is_a: DOID:936 ! brain disease [Term] id: DOID:9004328 name: Drachtman Weinblatt Sitarz Syndrome synonym: "Marrow hypoplasia associated with congenital neurologic anomalies" EXACT [] xref: MESH:C535603 xref: RDO:0000823 is_a: DOID:225 ! syndrome is_a: DOID:4961 ! bone marrow disease is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:9004329 name: Sphincter of Oddi Dysfunction def: "Organic or functional motility disorder involving the SPHINCTER OF ODDI and associated with biliary COLIC. Pathological changes are most often seen in the COMMON BILE DUCT sphincter, and less commonly the PANCREATIC DUCT sphincter." [MESH:D046628] synonym: "Sphincter of Oddi Dyskinesia" EXACT [] synonym: "Sphincter of Oddi Stenosis" EXACT [] xref: MESH:D046628 is_a: DOID:4140 ! biliary dyskinesia [Term] id: DOID:9004330 name: Pubic Bone Dysplasia alt_id: MIM:178350 xref: MESH:C566735 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9004331 name: Parathyroid Neoplasms def: "Tumors or cancer of the PARATHYROID GLANDS." [MESH:D010282] synonym: "parathyroid gland neoplasm" EXACT [] synonym: "parathyroid neoplasm" EXACT [] xref: MESH:D010282 is_a: DOID:11201 ! parathyroid gland disease is_a: DOID:9006169 ! Head and Neck Neoplasms is_a: DOID:9007803 ! Endocrine Gland Neoplasms [Term] id: DOID:9004332 name: Osteoarthritis, Experimental def: "Osteoarthritis that is induced in experimental animals by creating instability in joints through surgery or chemical treatment. It represents a progressive, degenerative joint disease resulting from biochemical changes and biomechanical stresses affecting articular cartilage." [] xref: RDO:9000116 is_a: DOID:8398 ! osteoarthritis is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9004333 name: Hunter-Macdonald Syndrome alt_id: MIM:611962 xref: MESH:C567445 is_a: DOID:225 ! syndrome is_a: DOID:3565 ! meningioma is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004334 name: Kosztolanyi Syndrome synonym: "Arachnodactyly, abnormal ossification and mental retardation" EXACT [] synonym: "Syndrome of arachnodactyly, disturbance of cranial ossification, protruding eyes, feeding difficulties, and mental retardation" EXACT [] xref: MESH:C537024 xref: RDO:0002776 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9005367 ! Arachnodactyly is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004335 name: Multiple Congenital Anomalies Syndrome with Cloverleaf Skull alt_id: MIM:607161 xref: MESH:C564611 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004336 name: neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities def: "An autosomal recessive disorder characterized by severe neurologic impairment including intellectual disability, intractable epilepsy, microcephaly, abnormal muscle tone, and sensorineural hearing loss." [MIM:616577] synonym: "EHLMRS" EXACT [] synonym: "epilepsy, hearing loss, and intellectual disability syndrome" EXACT [] synonym: "Epilepsy, Hearing Loss, and Mental Retardation Syndrome" EXACT [] synonym: "NEDHSB" EXACT [] xref: EFO:0009647 xref: MIM:616577 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9004337 name: Cataract, Cortical Pulverulent, Late-Onset xref: MESH:C563604 xref: RDO:0012824 is_a: DOID:83 ! cataract [Term] id: DOID:9004338 name: Advanced Sleep Phase Syndrome 4, Familial def: "An autosomal dominant condition in which individuals wake and sleep early, caused by heterozygous mutation in the TIMELESS gene on chromosome 12q13." [MIM:620015] synonym: "ADVANCE SLEEP PHASE SYNDROME, FAMILIAL, 4" EXACT [] synonym: "FASPS4" EXACT [] xref: MIM:620015 is_a: DOID:0050628 ! advanced sleep phase syndrome created_by: mtutaj creation_date: 2022-08-24T09:44:20Z [Term] id: DOID:9004339 name: Dyschromatosis Universalis Hereditaria 2 alt_id: MIM:612715 alt_id: RDO:0015335 synonym: "DUH2" EXACT [] xref: MESH:C567194 is_a: DOID:0060304 ! dyschromatosis universalis hereditaria [Term] id: DOID:9004341 name: Bunion def: "Abnormal swelling of the inner aspect of the first metatarsal head affecting the first METATARSOPHALANGEAL JOINT." [MESH:D000071378] synonym: "Bunions" EXACT [] xref: MESH:D000071378 is_a: DOID:9000083 ! Foot Deformities, Acquired [Term] id: DOID:9004342 name: Familial Temporal Epilepsy alt_id: RDO:0002686 synonym: "Familial temporal lobe epilepsy" EXACT [] synonym: "MICAL1-RELATED LATERAL TEMPORAL EPILEPSY" NARROW [] xref: MESH:C536956 is_a: DOID:3328 ! temporal lobe epilepsy is_a: DOID:630 ! genetic disease [Term] id: DOID:9004343 name: Craniofacial Dyssynostosis alt_id: MIM:218350 synonym: "BILATERAL LAMBDOID AND SAGITTAL SYNOSTOSIS" EXACT [] synonym: "BLSS" EXACT [] synonym: "Craniofacial dyssynostosis and short stature" EXACT [] synonym: "Craniofacial Dyssynostosis with Short Stature" EXACT [] synonym: "Craniosynostosis-craniofacial dysostosis syndrome" EXACT [] xref: MESH:C536455 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004344 name: Adrenal Medullary Hyperplasia def: "This disease is a cause of increased secretion of catecholamines, and subsequently endocrine hypertension. It has similar symptoms to, and may be a precursor of pheochromocytoma." [PMID:31384714, PMID:32732076] synonym: "adrenal medulla hyperplasia" EXACT [] synonym: "AMH" EXACT [] xref: EFO:1000076 is_a: DOID:9000362 ! Adrenal Gland Neoplasms is_a: DOID:9002221 ! Hyperplasia created_by: slaulede creation_date: 2022-08-26T13:04:42Z [Term] id: DOID:9004345 name: Isobutyryl-CoA Dehydrogenase Deficiency alt_id: MIM:611283 synonym: "ACAD8 deficiency" EXACT [] synonym: "Acyl-CoA dehydrogenase family, member 8, deficiency of" EXACT [] synonym: "DEFICIENCY OF ISOBUTYRYL-COA DEHYDROGENASE" EXACT [] synonym: "IBDD" EXACT [] synonym: "IBD DEFICIENCY" EXACT [] synonym: "isobutyryl-coenzyme A dehydrogenase deficiency" EXACT [] xref: MESH:C535541 xref: NCI:C129975 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9004346 name: Retinitis Pigmentosa Inversa with Deafness alt_id: MIM:268010 xref: MESH:C564842 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9004347 name: Skeletal Muscle Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to skeletal muscle, including swelling; hemorrhage; necrosis; and damage from free radicals." [] xref: RDO:9000692 is_a: DOID:0080000 ! muscular disease is_a: DOID:9004009 ! Reperfusion Injury [Term] id: DOID:9004348 name: Cleft Lip, Congenital Healed xref: MESH:C563468 xref: RDO:0012715 is_a: DOID:9296 ! cleft lip [Term] id: DOID:9004349 name: Chromosome 2, Trisomy 2q37 synonym: "duplication 2q37" EXACT [] synonym: "trisomy 2q37" EXACT [] xref: MESH:C535368 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9004350 name: Chromosome 9, Partial Monosomy 9p synonym: "9p Partial Monosomy" EXACT [] synonym: "9p- syndrome, partial" EXACT [] synonym: "Deletion 9p syndrome, partial" EXACT [] synonym: "Distal Monosomy 9p" EXACT [] synonym: "Partial deletion of short arm of chromosome 9" EXACT [] xref: MESH:C538025 xref: RDO:0003959 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9004351 name: Digestive System Neoplasms def: "Tumors or cancer of the DIGESTIVE SYSTEM." [MESH:D004067] synonym: "Digestive System Mixed Adenoneuroendocrine Carcinoma" NARROW [] synonym: "Digestive System Neoplasm" EXACT [] xref: EFO:0008549 xref: EFO:1000219 xref: MESH:D004067 xref: NCI:C60682 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9004352 name: Sister Mary Joseph's Nodule def: "Metastatic lesion of the UMBILICUS associated with intra-abdominal neoplasms especially of the GASTROINTESTINAL TRACT or OVARY." [MESH:D058288] synonym: "Sister Joseph's Nodule" EXACT [] synonym: "Sister Joseph's Nodules" EXACT [] synonym: "Sister Joseph Nodule" EXACT [] synonym: "Sister Josephs Nodule" EXACT [] xref: MESH:D058288 xref: RDO:0007821 is_a: DOID:9003078 ! Abdominal Neoplasms [Term] id: DOID:9004353 name: Larsen Syndromes xref: MESH:C580241 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9004354 name: Alcohol-Related Disorders def: "Disorders related to or resulting from abuse or mis-use of alcohol." [MESH:D019973] synonym: "Alcohol-Related Disorder" EXACT [] xref: MESH:D019973 is_a: DOID:303 ! substance-related disorder [Term] id: DOID:9004355 name: Hirschsprung Disease Type 3 xref: MESH:C538121 is_a: DOID:10487 ! Hirschsprung's disease [Term] id: DOID:9004356 name: Smith-Kingsmore Syndrome def: "A rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin upper lip." [MIM:616638] synonym: "macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome" EXACT [] synonym: "macrocephaly, seizures, mental retardation, umbilical hernia, and facial dysmorphism" EXACT [] synonym: "MINDS syndrome" EXACT [] synonym: "MTOR-RELATED CONDITION" BROAD [] synonym: "NEURODEVELOPMENTAL DISORDER, MTOR RELATED" BROAD [] synonym: "OVERGROWTH SYNDROME" EXACT [] synonym: "SKS" EXACT [] xref: EFO:0009050 xref: MIM:616638 is_a: DOID:0060321 ! umbilical hernia is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: rgd creation_date: 2015-12-08T00:00:00Z [Term] id: DOID:9004357 name: Spinal Muscular Atrophy, Infantile, James Type synonym: "SMAJI" EXACT [] xref: MIM:619042 is_a: DOID:12377 ! spinal muscular atrophy created_by: mtutaj creation_date: 2020-10-19T17:29:27Z [Term] id: DOID:9004358 name: Candidiasis, Familial, 3 alt_id: MIM:607644 alt_id: RDO:0013354 synonym: "CANDF3" EXACT [] synonym: "Candidiasis, Familial Chronic Nail, With ICAM1 Deficiency" EXACT [] synonym: "CANDN1" EXACT [] synonym: "FCNC" EXACT [] xref: MESH:C564361 is_a: DOID:2058 ! chronic mucocutaneous candidiasis [Term] id: DOID:9004359 name: Chromosome 18, Deletion 18q23 synonym: "Deletion 18q23" EXACT [] synonym: "Monosomy 18q23" EXACT [] xref: MESH:C538305 xref: RDO:0004267 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9004360 name: RAUCH-STEINDL SYNDROME def: "This disease is characterized by poor pre- and postnatal growth, characteristic dysmorphic facial features, and variable developmental delay with delayed motor and speech acquisition and impaired intellectual function. The phenotype represents a mild form of Wolf-Hirschhorn syndrome." [MIM:619695] synonym: "RAUST" EXACT [] synonym: "WOLF-HIRSCHHORN LIKE SYNDROME" EXACT [] xref: MIM:619695 xref: MONDO:0859219 xref: ORDO:659642 is_a: DOID:1059 ! intellectual disability is_a: DOID:9008582 ! Developmental Disease created_by: slaulede creation_date: 2022-03-25T10:16:29Z [Term] id: DOID:9004361 name: Jung Wolff Back Stahl Syndrome alt_id: MIM:601427 synonym: "Anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis" EXACT [] xref: MESH:C537694 is_a: DOID:1459 ! hypothyroidism is_a: DOID:225 ! syndrome is_a: DOID:3227 ! tracheal stenosis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004362 name: Torulopsis synonym: "Neonatal Torulopsis glabrata Fungemia" EXACT [] xref: MESH:C536972 is_a: DOID:1508 ! candidiasis [Term] id: DOID:9004363 name: Eisenmenger Complex def: "A condition associated with VENTRICULAR SEPTAL DEFECT and other congenital heart defects that allow the mixing of pulmonary and systemic circulation, increase blood flow into the lung, and subsequent responses to low oxygen in blood. This complex is characterized by progressive PULMONARY HYPERTENSION; HYPERTROPHY of the RIGHT VENTRICLE; CYANOSIS; and ERYTHROCYTOSIS." [MESH:D004541] synonym: "Eisenmenger's Complex" EXACT [] synonym: "Eisenmenger's Syndrome" EXACT [] synonym: "Eisenmengers Complex" EXACT [] synonym: "Eisenmengers Syndrome" EXACT [] synonym: "Eisenmenger Syndrome" EXACT [] xref: EFO:0009200 xref: MESH:D004541 xref: NCI:C84390 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9004364 name: Meckel Syndrome 10 synonym: "JBTS34" NARROW [] synonym: "Joubert syndrome 34" NARROW [] synonym: "Meckel syndrome, type 10" EXACT [] synonym: "MKS10" EXACT [] xref: MIM:614175 is_a: DOID:0050777 ! Joubert syndrome is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:9004365 name: Senior-Loken Syndrome 1 synonym: "SLSN1" EXACT [] xref: MIM:266900 is_a: DOID:0050576 ! Senior-Loken syndrome created_by: mtutaj creation_date: 2019-03-26T09:30:51Z [Term] id: DOID:9004366 name: Congenital Muscular Dystrophy with Cerebellar Atrophy alt_id: MIM:603323 xref: MESH:C566392 is_a: DOID:0050557 ! congenital muscular dystrophy [Term] id: DOID:9004367 name: Autosomal Recessive Infantile Epilepsy xref: RDO:9000702 is_a: DOID:14264 ! benign neonatal seizures [Term] id: DOID:9004368 name: Esophageal Fistula def: "Abnormal passage communicating with the ESOPHAGUS. The most common type is TRACHEOESOPHAGEAL FISTULA between the esophagus and the TRACHEA." [MESH:D004937] synonym: "Esophageal Fistulas" EXACT [] xref: MESH:D004937 is_a: DOID:6050 ! esophageal disease is_a: DOID:9008038 ! Digestive System Fistula [Term] id: DOID:9004369 name: Hypesthesia def: "Absent or reduced sensitivity to cutaneous stimulation." [MESH:D006987] synonym: "Hypesthesias" EXACT [] synonym: "Hypoesthesia" EXACT [] synonym: "Hypoesthesias" EXACT [] synonym: "Impaired Sensation" EXACT [] synonym: "Impaired Sensations" EXACT [] synonym: "Numbness" EXACT [] synonym: "Reduced Sensation" EXACT [] synonym: "Reduced Sensations" EXACT [] synonym: "Tactile Hypesthesia" EXACT [] synonym: "Tactile Hypesthesias" EXACT [] synonym: "Thermal Hypesthesia" EXACT [] synonym: "Thermal Hypesthesias" EXACT [] xref: MESH:D006987 xref: RDO:0002033 is_a: DOID:9008625 ! Somatosensory Disorders [Term] id: DOID:9004370 name: Infantile Hypertrophic Pyloric Stenosis 1 alt_id: MIM:179010 synonym: "IHPS" EXACT [] synonym: "IHPS1" EXACT [] synonym: "Pyloric Stenosis, Infantile" EXACT [] synonym: "Pyloric Stenosis, Infantile Hypertrophic" EXACT [] xref: MESH:C566730 is_a: DOID:12638 ! hypertrophic pyloric stenosis [Term] id: DOID:9004371 name: Ankyloblepharon Filiforme Adnatum alt_id: MIM:106250 synonym: "AFA" EXACT [] synonym: "Ankyloblepharon Filiforme Adnatum and Cleft Palate" EXACT [] synonym: "Ankyloblepharon filiforme adnatum cleft palate" EXACT [] synonym: "Ankyloblepharon filiforme congenitum" EXACT [] synonym: "Congenital filiform fusion of the eyelids with cleft palate and-or cleft lip" EXACT [] xref: MESH:C536373 xref: RDO:0001936 is_a: DOID:674 ! cleft palate is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:9004372 name: Pulmonary Atelectasis def: "Absence of air in the entire or part of a lung, such as an incompletely inflated neonate lung or a collapsed adult lung. Pulmonary atelectasis can be caused by airway obstruction, lung compression, fibrotic contraction, or other factors." [MESH:D001261] synonym: "Atelectases" EXACT [] synonym: "Atelectasis" EXACT [] synonym: "Compression Atelectases" EXACT [] synonym: "Compression Atelectasis" EXACT [] synonym: "Compression Pulmonary Atelectases" EXACT [] synonym: "Compression Pulmonary Atelectasis" EXACT [] synonym: "Congestive Atelectases" EXACT [] synonym: "Congestive Atelectasis" EXACT [] synonym: "Congestive Pulmonary Atelectases" EXACT [] synonym: "Congestive Pulmonary Atelectasis" EXACT [] synonym: "Contraction Pulmonary Atelectases" EXACT [] synonym: "Contraction Pulmonary Atelectasis" EXACT [] synonym: "Lung Collapse" EXACT [] synonym: "Postoperative Pulmonary Atelectases" EXACT [] synonym: "Postoperative Pulmonary Atelectasis" EXACT [] synonym: "Pulmonary Atelectases" EXACT [] synonym: "Resorption Atelectases" EXACT [] synonym: "Resorption Atelectasis" EXACT [] synonym: "Resorption Pulmonary Atelectases" EXACT [] synonym: "Resorption Pulmonary Atelectasis" EXACT [] xref: MESH:D001261 xref: RDO:0004938 is_a: DOID:850 ! lung disease [Term] id: DOID:9004373 name: Autosomal Recessive Dyskeratosis Congenita synonym: "recessive dyskeratosis congenita" EXACT [] xref: MESH:C565611 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2729 ! dyskeratosis congenita [Term] id: DOID:9004374 name: Colangite Esclerosante Porracoccidiodomicose xref: MESH:C531768 xref: RDO:0000186 is_a: DOID:12662 ! paracoccidioidomycosis [Term] id: DOID:9004375 name: Pagetoid Reticulosis def: "A distinct variant of mycosis fungoides characterized by the presence of localized patches or plaques with an intraepidermal proliferation of neoplastic cells." [MESH:D056267] synonym: "Ketron Goodman Disease" EXACT [] synonym: "Pagetoid Reticuloses" EXACT [] synonym: "Woringer Kolopp Disease" EXACT [] xref: MESH:D056267 xref: RDO:0007740 is_a: DOID:8691 ! mycosis fungoides [Term] id: DOID:9004376 name: Progressive Pallidal Degeneration with Retinitis Pigmentosa alt_id: MIM:260200 xref: MESH:C564910 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:9004377 name: Myostitis is_a: DOID:423 ! myopathy created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:9004378 name: Postaxial Polydactyly, Type A4 alt_id: MIM:608562 alt_id: RDO:0013042 synonym: "PAPA4" EXACT [] xref: MESH:C563909 is_a: DOID:11193 ! syndactyly is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9004379 name: Vesicular Stomatitis def: "A viral disease caused by at least two distinct species (serotypes) in the VESICULOVIRUS genus: VESICULAR STOMATITIS INDIANA VIRUS and VESICULAR STOMATITIS NEW JERSEY VIRUS. It is characterized by vesicular eruptions on the ORAL MUCOSA in cattle, horses, pigs, and other animals. In humans, vesicular stomatitis causes an acute influenza-like illness." [MESH:D054243] synonym: "Vesicular Stomatitides" EXACT [] xref: MESH:D054243 is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9008603 ! Rhabdoviridae Infections is_a: DOID:9637 ! stomatitis [Term] id: DOID:9004380 name: Chromosome 1, Trisomy 1q32 qter synonym: "Duplication 1q32 qter" EXACT [] synonym: "Trisomy 1q32 qter" EXACT [] xref: MESH:C538083 xref: RDO:0004017 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9004382 name: Heart Valve Prolapse def: "Downward displacement of any one of the HEART VALVES from its normal position. This usually results in failed valve closure." [MESH:D016127] synonym: "Heart Valve Prolapses" EXACT [] xref: MESH:D016127 is_a: DOID:4079 ! heart valve disease [Term] id: DOID:9004383 name: Eczematous Skin Diseases def: "Any of a variety of eruptive skin disorders characterized by erythema, oozing, vesiculation, and scaling. Etiology is varied." [MESH:D017443] synonym: "Eczematous Disorder" EXACT [] synonym: "Eczematous Disorders" EXACT [] synonym: "Eczematous Skin Disease" EXACT [] xref: MESH:D017443 is_a: DOID:37 ! skin disease [Term] id: DOID:9004384 name: Bacterial Infections and Mycoses def: "Infections caused by bacteria and fungi, general, specified, or unspecified." [MESH:D001423] subset: RGD_JBrowse_slim xref: MESH:D001423 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:9004387 name: Isolated Microphthalmia with Coloboma 5 alt_id: MIM:611638 synonym: "MCOPCB5" EXACT [] xref: MESH:C566899 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma [Term] id: DOID:9004389 name: Bone Neoplasms alt_id: RDO:0001001 def: "Tumors or cancer located in bone tissue or specific BONES." [MESH:D001859] synonym: "bone neoplasm" EXACT [] synonym: "bone tumour" EXACT [] synonym: "neoplasm of bone" EXACT [] synonym: "osseous tumor" EXACT [] xref: EFO:0003820 xref: MESH:D001859 is_a: DOID:0080001 ! bone disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9004390 name: Convalescence def: "The period of recovery following an illness." [MESH:D003289] synonym: "Convalescences" EXACT [] xref: EFO:0009630 xref: MESH:D003289 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9004391 name: Non-ST Elevated Myocardial Infarction def: "A myocardial infarction that does not produce elevations in the ST segments of the ELECTROCARDIOGRAM. ST segment elevation of the ECG is often used in determining the treatment protocol (see also ST Elevation Myocardial Infarction)." [MESH:D000072658] synonym: "Non ST Elevation Myocardial Infarction" EXACT [] synonym: "Non-ST-Elevation Myocardial Infarctions" EXACT [] synonym: "NSTEMI" EXACT [] xref: EFO:0008586 xref: MESH:D000072658 xref: RDO:0016117 is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:9004392 name: Cranial Nerve Neoplasms def: "Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves." [MESH:D003390] synonym: "benign cranial nerve neoplasms" EXACT [] synonym: "benign cranial nerve tumors" EXACT [] synonym: "benign cranial neuroma" EXACT [] synonym: "benign cranial neuromas" EXACT [] synonym: "cranial nerve neoplasm" EXACT [] synonym: "neoplasm of cranial nerve" EXACT [] synonym: "tumor of the cranial nerve" EXACT [] xref: MESH:D003390 is_a: DOID:5656 ! cranial nerve disease created_by: mtutaj creation_date: 2022-02-22T16:46:06Z [Term] id: DOID:9004393 name: Hemihyperplasia, Isolated alt_id: MIM:235000 synonym: "Hemi 3 Syndrome" EXACT [] synonym: "Hemihyperplasia" EXACT [] synonym: "Hemihypertrophy, Isolated" EXACT [] synonym: "HEMIHYPERTROPHY, ISOLATED HEMI-3 SYNDROME" NARROW [] synonym: "HHP" EXACT [] synonym: "IH" EXACT [] xref: MESH:C565524 xref: RDO:0014134 is_a: DOID:9002221 ! Hyperplasia [Term] id: DOID:9004394 name: Pfeiffer Mayer Syndrome xref: MESH:C537888 is_a: DOID:1059 ! intellectual disability is_a: DOID:1148 ! polydactyly is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004395 name: Skin Appendage Carcinoma def: "A malignant tumor of the skin appendages, which include the hair, nails, sebaceous glands, sweat glands, and the mammary glands. (From Dorland, 27th ed)" [MESH:D018280] synonym: "Skin Appendage Carcinomas" EXACT [] xref: EFO:1001183 xref: MESH:D018280 is_a: DOID:299 ! adenocarcinoma is_a: DOID:9008418 ! Adnexal and Skin Appendage Neoplasms [Term] id: DOID:9004396 name: Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type alt_id: MIM:118230 alt_id: RDO:0014586 xref: MESH:C566137 is_a: DOID:10595 ! Charcot-Marie-Tooth disease is_a: DOID:9001487 ! Facies [Term] id: DOID:9004397 name: Calcification of Aortic Valve synonym: "aortic valve calcification" EXACT [] synonym: "calcific aortic stenosis" EXACT [] synonym: "calcific aortic valve disease" EXACT [] synonym: "calcification of aortic valve" EXACT [] xref: EFO:0005239 xref: MESH:C562942 is_a: DOID:1712 ! aortic valve stenosis is_a: DOID:182 ! calcinosis [Term] id: DOID:9004399 name: Phosphoribosylpyrophosphate Synthetase Deficiency xref: MESH:C537897 is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:9004401 name: Secernentea Infections def: "Infections with nematodes of the subclass SECERNENTEA." [MESH:D017190] synonym: "Phasmidia Infection" EXACT [] synonym: "Phasmidia Infections" EXACT [] synonym: "Secernentea Infection" EXACT [] xref: MESH:D017190 is_a: DOID:9002992 ! Nematode Infections [Term] id: DOID:9004402 name: Congenital Upper Extremity Deformities def: "Congenital structural abnormalities of the UPPER EXTREMITY." [MESH:D038062] synonym: "congenital upper limb deformities" EXACT [] xref: MESH:D038062 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9004403 name: uterine hyperstimulation def: "This is a potential complication of labor induction when the contraction frequency exceeds more than five in a 10-minute time frame or as contractions exceeding more than two minutes in duration." [EFO:0020915] synonym: "hypertonic uterine dysfunction" EXACT [] xref: EFO:0020915 is_a: DOID:345 ! uterine disease is_a: DOID:9000610 ! Obstetric Labor Complications created_by: slaulede creation_date: 2023-01-23T17:34:52Z [Term] id: DOID:9004404 name: Familial Hemophagocytic Lymphohistiocytoses def: "Hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder, is characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained. Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation. (OMIM)" [] synonym: "familial erythrophagocytic lymphohistiocytoses" EXACT [] synonym: "familial erythrophagocytic lymphohistiocytosis" EXACT [] synonym: "familial hemophagocytic histiocytoses" EXACT [] synonym: "familial hemophagocytic histiocytosis" EXACT [] synonym: "familial hemophagocytic lymphohistiocytosis" EXACT [] synonym: "familial hemophagocytic reticuloses" EXACT [] synonym: "Familial Hemophagocytic Reticulosis" EXACT [] synonym: "familial histiocytic reticuloses" EXACT [] synonym: "familial histiocytic reticulosis" EXACT [] synonym: "FEL" EXACT [] synonym: "FHL" EXACT [] synonym: "FHLH" EXACT [] xref: NCI:C61276 is_a: DOID:0050120 ! hemophagocytic lymphohistiocytosis is_a: DOID:630 ! genetic disease [Term] id: DOID:9004405 name: Intradermal Nevus def: "A nevus in which nests of melanocytes are found in the dermis, but not at the epidermal-dermal junction. Benign pigmented nevi in adults are most commonly intradermal. (Stedman, 25th ed)" [MESH:D018330] synonym: "Intradermal Nevi" EXACT [] xref: EFO:1000995 xref: MESH:D018330 is_a: DOID:9002969 ! Nevus [Term] id: DOID:9004407 name: Permanent Neonatal Diabetes Mellitus 4 synonym: "PNDM4" EXACT [] xref: MIM:618858 is_a: DOID:0060639 ! permanent neonatal diabetes mellitus created_by: mtutaj creation_date: 2020-05-01T10:28:50Z [Term] id: DOID:9004408 name: Dilated Cardiomyopathy, Right Ventricular alt_id: RDO:0014660 xref: MESH:C566255 is_a: DOID:12930 ! dilated cardiomyopathy [Term] id: DOID:9004409 name: Abderhalden-Kaufmann-Lignac Syndrome synonym: "Abderhalden-Lignac-Kaufmann disease" EXACT [] xref: MESH:C535335 is_a: DOID:1064 ! cystinosis is_a: DOID:225 ! syndrome [Term] id: DOID:9004410 name: Threatened Abortion def: "UTERINE BLEEDING from a GESTATION of less than 20 weeks without any CERVICAL DILATATION. It is characterized by vaginal bleeding, lower back discomfort, or midline pelvic cramping and a risk factor for MISCARRIAGE." [] synonym: "Threatened Abortions" EXACT [] xref: MESH:D000033 is_a: DOID:9003281 ! Spontaneous Abortions [Term] id: DOID:9004411 name: Atrioventricular Septal Defect and Common Atrioventricular Junction is_a: DOID:0050651 ! atrioventricular septal defect created_by: slaulede creation_date: 2020-01-07T13:47:28Z [Term] id: DOID:9004412 name: Osteoma def: "A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)" [MESH:D010016] synonym: "Osteomas" EXACT [] xref: EFO:0002423 xref: MESH:D010016 is_a: DOID:9007603 ! Bone Tissue Neoplasms [Term] id: DOID:9004413 name: Pre-Excitation, Mahaim-Type def: "A form of ventricular pre-excitation characterized by a normal PR interval and a long QRS interval with an initial slow deflection (delta wave). In this syndrome, the atrial impulse travel to the ventricle via the MAHAIM FIBERS which connect ATRIOVENTRICULAR NODE directly to the right ventricle wall (NODOVENTRICULAR ACCESSORY PATHWAY) or to the RIGHT BUNDLE BRANCH OF HIS (nodofascicular accessory pathway)." [MESH:D011227] synonym: "Mahaim Type Preexcitation" EXACT [] synonym: "Nodofascicular Mahaim Type Pre Excitation" EXACT [] synonym: "Nodoventricular Mahaim Type Pre Excitation" EXACT [] xref: MESH:D011227 xref: RDO:0006400 is_a: DOID:9002491 ! Pre-Excitation Syndromes [Term] id: DOID:9004414 name: Atopic Dermatitis 1 alt_id: MIM:603165 synonym: "ATOD1" NARROW [] synonym: "ECZEMA, ATOPIC DERMATITIS, ATOPIC, 1" NARROW [] xref: MESH:C566404 is_a: DOID:3310 ! atopic dermatitis [Term] id: DOID:9004415 name: Polycystic Kidneys, Severe Infantile with Tuberous Sclerosis alt_id: MIM:600273 synonym: "CHROMOSOME 16p13.3 DELETION SYNDROME, DISTAL" EXACT [] synonym: "PKDTS" EXACT [] synonym: "Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis" EXACT [] synonym: "Tuberous sclerosis-polycystic kidney disease contiguous gene syndrome" EXACT [] xref: MESH:C536328 xref: NCI:C177539 is_a: DOID:0110861 ! autosomal recessive polycystic kidney disease is_a: DOID:13515 ! tuberous sclerosis [Term] id: DOID:9004416 name: Paroxysmal Ventricular Fibrillation synonym: "Idiopathic ventricular fibrillation" EXACT [] synonym: "Paroxysmal familial ventricular fibrillation" EXACT [] synonym: "TO" NARROW [] xref: MESH:C537182 xref: RDO:0002970 is_a: DOID:9000184 ! Ventricular Fibrillation [Term] id: DOID:9004419 name: Pseudotrisomy 13 Syndrome alt_id: MIM:264480 synonym: "holoprosencephaly-polydactyly syndrome" EXACT [] synonym: "Pseudo trisomy 13 syndrome" EXACT [] xref: MESH:C535829 xref: NCI:C125418 is_a: DOID:1148 ! polydactyly is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9002427 ! Fetal Macrosomia is_a: DOID:9003960 ! Trisomy is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9004420 name: Periventricular Nodular Heterotopia 5 synonym: "CHROMOSOME 5q14.3 DELETION SYNDROME, DISTAL" EXACT [] synonym: "Periventricular Heterotopia associated with Chromosome 5q Deletion" EXACT [] synonym: "PVNH5" EXACT [] xref: MESH:C567876 xref: MIM:612881 xref: MONDO:0013031 is_a: DOID:0050454 ! periventricular nodular heterotopia [Term] id: DOID:9004421 name: Intra-Abdominal Hypertension def: "Pathological elevation of intra-abdominal pressure (>12 mm Hg). It may develop as a result of SEPSIS; PANCREATITIS; capillary leaks, burns, or surgery. When the pressure is higher than 20 mm Hg, often with end-organ dysfunction, it is referred to as abdominal compartment syndrome." [MESH:D059325] synonym: "Abdominal Compartment Syndrome" EXACT [] synonym: "Abdominal Compartment Syndromes" EXACT [] synonym: "Intraabdominal Hypertension" EXACT [] synonym: "Intra-Abdominal Hypertensions" EXACT [] synonym: "Intraabdominal Hypertensions" EXACT [] xref: MESH:D059325 xref: RDO:0010007 is_a: DOID:682 ! compartment syndrome [Term] id: DOID:9004422 name: Chagas Cardiomyopathy def: "A disease of the CARDIAC MUSCLE developed subsequent to the initial protozoan infection by TRYPANOSOMA CRUZI. After infection, less than 10% develop acute illness such as MYOCARDITIS (mostly in children). The disease then enters a latent phase without clinical symptoms until about 20 years later. Myocardial symptoms of advanced CHAGAS DISEASE include conduction defects (HEART BLOCK) and CARDIOMEGALY." [MESH:D002598] synonym: "Cardiovascular Trypanosomiasis" EXACT [] synonym: "Myocarditis, Chagas" EXACT [] xref: EFO:0005529 xref: MESH:D002598 xref: RDO:0005179 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:12140 ! Chagas disease [Term] id: DOID:9004424 name: Syndactyly-Polydactyly-Earlobe Syndrome xref: MESH:C566091 xref: MIM:186350 xref: MONDO:0008517 is_a: DOID:11193 ! syndactyly is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome [Term] id: DOID:9004425 name: Empyema def: "Presence of pus in a hollow organ or body cavity." [MESH:D004653] xref: EFO:0003097 xref: MESH:D004653 is_a: DOID:9005889 ! Suppuration [Term] id: DOID:9004426 name: Lethal Congenital Contracture Syndrome 5 synonym: "LCCS5" EXACT [] synonym: "lethal centronuclear myopathy, autosomal recessive" EXACT [] xref: MIM:615368 is_a: DOID:0060558 ! lethal congenital contracture syndrome [Term] id: DOID:9004429 name: Neurodevelopmental Disorders def: "These are a group of conditions with onset in the developmental period. The disorders typically manifest early in development, often before the child enters grade school, and are characterized by developmental deficits that produce impairments of personal, social, academic, or occupational functioning. (From DSM-V)." [MESH:D065886] synonym: "ARHGEF6-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "ARHGEF6-RELATED CONDITION" BROAD [] synonym: "child mental disorder" EXACT [] synonym: "child mental disorders" EXACT [] synonym: "CNOT9-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "COMPLEX NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT CONGENITAL ANOMALIES" BROAD [] synonym: "CTR9-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "DDX23-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "disorders usually diagnosed in infancy, childhood or adolescence" EXACT [] synonym: "DNAH14-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "DNHD1-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "EEF1D-ASSOCIATED NEURODEVELOPMENTAL SYNDROME" NARROW [] synonym: "EZH1-NEURODEVELOPMENTAL SYNDROME" NARROW [] synonym: "FBRSL1-ASSOCIATED NEURODEVELOPMENTAL SYNDROME" NARROW [] synonym: "FRYL-RELATED DEVELOPMENTAL DISORDER" NARROW [] synonym: "GRID1-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "JMJD1C-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "JMJD1C-RELATED CONDITION" NARROW [] synonym: "JMJD1C-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "KIF21B-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "KLF7-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "Mental Disorders Diagnosed in Childhood" EXACT [] synonym: "MYCBP2-ASSOCIATED DISORDER" NARROW [] synonym: "NCKAP1-RELATED DISORDER" NARROW [] synonym: "NEURODEVELOPMENTAL ABNORMALITY" EXACT [] synonym: "neurodevelopmental disorder" EXACT [] synonym: "NOVEL PIP5K1C-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "PIP5K1C-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "PRKAR1B-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "SCAF4-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "SHANK1-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "SYNCRIP-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "SYT1-ASSOCIATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "TOP2B-RELATED NEURODEVELOPMENTAL DISORDER" NARROW [] synonym: "VPS25-RELATED NEURODEVELOPMENTAL DELAY" NARROW [] synonym: "YWHAZ-RELATED NEURODEVELOPMENTAL SYNDROME" NARROW [] synonym: "ZNF292-RELATED NEURODEVELOPMENTAL CONDITION" NARROW [] xref: EFO:0010642 xref: MESH:D065886 is_a: DOID:150 ! disease of mental health is_a: DOID:9008582 ! Developmental Disease [Term] id: DOID:9004430 name: Hyperhidrosis Palmaris Et Plantaris synonym: "HYPERHIDROSIS, PRIMARY PALMAR" EXACT [] synonym: "HYPRPP" EXACT [] xref: MESH:C563185 xref: MIM:144110 xref: MONDO:0007754 is_a: DOID:9004062 ! Hyperhidrosis [Term] id: DOID:9004431 name: Ghose Sachdev Kumar Syndrome def: "Bilateral nanophthalmos, pigmentary retinal dystrophy, and angle closure glaucoma. (MESH)" [] xref: MESH:C537803 is_a: DOID:10629 ! microphthalmia is_a: DOID:1686 ! glaucoma is_a: DOID:225 ! syndrome is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:9004432 name: Parasitic Eye Infections alt_id: RDO:0006731 def: "Mild to severe infections of the eye and its adjacent structures (adnexa) by adult or larval protozoan or metazoan parasites." [MESH:D015822] synonym: "Parasitic Eye Infection" EXACT [] synonym: "Parasitic Ocular Infection" EXACT [] synonym: "Parasitic Ocular Infections" EXACT [] xref: MESH:D015822 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:9008201 ! Eye Infections [Term] id: DOID:9004433 name: Hamartoma, Precalcaneal Congenital Fibrolipomatous alt_id: MIM:609808 xref: MESH:C565226 is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9007253 ! Hamartoma [Term] id: DOID:9004434 name: WHITE-KERNOHAN SYNDROME def: "This disease is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features." [MIM:619426] synonym: "GLOBAL DEVELOPMENTAL DELAY, HYPOTONIA, AND CHARACTERISTIC FACIAL FEATURES" EXACT [] synonym: "WHIKERS" EXACT [] xref: MIM:619426 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2021-08-26T10:13:56Z [Term] id: DOID:9004435 name: Erythropoietic Protoporphyria 1 def: "Erythropoietic protoporphyria-1 (EPP1) is an inborn error of porphyrin metabolism caused by decreased activity of the enzyme ferrochelatase (FECH), the terminal enzyme of the heme biosynthetic pathway, which catalyzes the insertion of iron into protoporphyrin to form heme. EPP is characterized clinically by photosensitivity to visible light commencing in childhood, and biochemically by elevated red cell protoporphyrin levels. EPP1 is caused by compound heterozygous or homozygous mutation in FECH on chromosome 18q21. The disorder most often results from inheritance of a null FECH allele in trans with a low-expression FECH mutation prevalent in some populations, resembling autosomal dominant inheritance with incomplete penetrance. (OMIM)" [] synonym: "AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA" BROAD [] synonym: "EPP1" EXACT [] synonym: "INCREASED ERYTHROCYTE PROTOPORPHYRIN CONCENTRATION" RELATED [] xref: MIM:177000 is_a: DOID:13270 ! erythropoietic protoporphyria created_by: mtutaj creation_date: 2019-03-26T08:49:35Z [Term] id: DOID:9004436 name: Atelosteogenesis Type 3 alt_id: MIM:108721 synonym: "AO3" EXACT [] synonym: "AOIII" EXACT [] synonym: "Atelosteogenesis Type III" EXACT [] synonym: "FLNB-related spectrum disorder" BROAD [] xref: MESH:C579928 is_a: DOID:0050648 ! atelosteogenesis is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9004437 name: Nonkeratan-Sulfate-Excreting Morquio Syndrome alt_id: MIM:252300 synonym: "Morquio Syndrome C" EXACT [] synonym: "Morquio syndrome, nonkeratan-sulfate-excreting type" EXACT [] synonym: "Morquio Syndrome, Nonkeratosulfate-Excreting Type" EXACT [] xref: MESH:C536247 is_a: DOID:12804 ! mucopolysaccharidosis IV is_a: DOID:225 ! syndrome [Term] id: DOID:9004438 name: Neutral Lipid Storage Disease with Myopathy alt_id: MIM:610717 synonym: "neutral lipid storage disease without ichthyosis" EXACT [] synonym: "NLSDM" EXACT [] xref: MESH:C565192 is_a: DOID:0050729 ! Chanarin-Dorfman syndrome is_a: DOID:423 ! myopathy [Term] id: DOID:9004439 name: Congenital Lp(A) Deficiency alt_id: MIM:152200 alt_id: RDO:0012831 synonym: "Lipoprotein(A) Deficiency, Congenital" EXACT [] xref: MESH:C563618 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9004441 name: Experimental Leukemia alt_id: RDO:0004956 def: "Leukemia induced experimentally in animals by exposure to leukemogenic agents, such as VIRUSES; RADIATION; or by TRANSPLANTATION of leukemic tissues." [MESH:D007942] synonym: "Animal Leukemia Model" EXACT [] synonym: "Animal Leukemia Models" EXACT [] synonym: "Experimental Leukemias" EXACT [] xref: MESH:D007942 is_a: DOID:1240 ! leukemia is_a: DOID:9002170 ! Experimental Neoplasms [Term] id: DOID:9004442 name: Diffuse Brain Injuries def: "Brain injuries occurring over a wide area instead of specific focal area." [MESH:D000070625] synonym: "Diffuse Axonal Brain Injury" EXACT [] synonym: "Diffuse Brain Injury" EXACT [] synonym: "Diffuse Cerebral Injuries" EXACT [] synonym: "Diffuse Cerebral Injury" EXACT [] xref: MESH:D000070625 is_a: DOID:9000998 ! Brain Injuries [Term] id: DOID:9004443 name: Intractable Pain def: "Persistent pain that is refractory to some or all forms of treatment." [MESH:D010148] synonym: "intractable pains" EXACT [] synonym: "Refractory Pain" EXACT [] synonym: "refractory pains" EXACT [] xref: MESH:D010148 is_a: DOID:9000641 ! Pain [Term] id: DOID:9004444 name: Senior-Loken Syndrome 8 synonym: "SLSN8" EXACT [] xref: MIM:616307 is_a: DOID:0050576 ! Senior-Loken syndrome created_by: rgd creation_date: 2017-04-04T00:00:00Z [Term] id: DOID:9004445 name: Macroepiphyseal Dysplasia, McAlister Coe Type alt_id: MIM:248010 synonym: "Macroepiphyseal Dysplasia with Osteoporosis, Wrinkled Skin, and Aged Appearance" EXACT [] synonym: "McAlister Coe Whyte syndrome" EXACT [] xref: MESH:C537721 is_a: DOID:0080006 ! bone development disease is_a: DOID:11476 ! osteoporosis is_a: DOID:37 ! skin disease [Term] id: DOID:9004446 name: Alazami-Yuan Syndrome synonym: "ALYUS" EXACT [] xref: MIM:617126 is_a: DOID:1059 ! intellectual disability is_a: DOID:11383 ! cryptorchidism is_a: DOID:225 ! syndrome is_a: DOID:540 ! strabismus is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004447 name: Megalencephaly with Thick Corpus Callosum, Cerebellar Atrophy, and Intellectual Disability xref: RDO:9001123 is_a: DOID:1059 ! intellectual disability is_a: DOID:2786 ! cerebellar disease is_a: DOID:9003816 ! Macrocephaly created_by: rgd creation_date: 2015-09-21T00:00:00Z [Term] id: DOID:9004448 name: Slow Virus Diseases def: "Diseases of viral origin, characterized by incubation periods of months to years, insidious onset of clinical manifestations, and protracted clinical course. Though the disease process is protracted, viral multiplication may not be unusually slow. Conventional viruses produce slow virus diseases such as SUBACUTE SCLEROSING PANENCEPHALITIS, progressive multifocal leukoencephalopathy (LEUKOENCEPHALOPATHY, PROGRESSIVE MULTIFOCAL), and AIDS. PRION DISEASES were originally considered part of this group." [MESH:D012897] synonym: "Slow Virus Disease" EXACT [] xref: MESH:D012897 xref: RDO:0004715 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9004449 name: Chromosome 6, Monosomy 6q1 synonym: "Deletion 6q1" EXACT [] synonym: "Monosomy 6q1" EXACT [] xref: MESH:C537808 xref: RDO:0003712 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9004450 name: Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration and Progressive Polyneuropathy Type) synonym: "BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY" EXACT [] synonym: "STRIATAL NECROSIS, BILATERAL, AND PROGRESSIVE POLYNEUROPATHY" EXACT [] synonym: "THMD4" EXACT [] xref: MIM:613710 is_a: DOID:1389 ! polyneuropathy is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9002955 ! Nerve Degeneration [Term] id: DOID:9004451 name: Ovine Pulmonary Adenomatosis alt_id: RDO:0006436 def: "A contagious, neoplastic, pulmonary disease of sheep characterized by hyperplasia and hypertrophy of pneumocytes and epithelial cells of the lung. It is caused by JAAGSIEKTE SHEEP RETROVIRUS." [MESH:D011648] synonym: "Jaagsiekte" EXACT [] synonym: "Ovine Pulmonary Adenomatoses" EXACT [] synonym: "Ovine Pulmonary Carcinoma" EXACT [] synonym: "Ovine Pulmonary Carcinomas" EXACT [] xref: MESH:D011648 is_a: DOID:299 ! adenocarcinoma is_a: DOID:9004886 ! Tumor Virus Infections is_a: DOID:9006097 ! Sheep Diseases is_a: DOID:9006644 ! Retroviridae Infections [Term] id: DOID:9004452 name: Townes-Brocks-Branchiootorenal-Like Syndrome xref: MESH:C566272 is_a: DOID:0050887 ! Townes-Brocks syndrome [Term] id: DOID:9004453 name: Orthostatic Intolerance alt_id: MIM:604715 def: "Symptoms of cerebral hypoperfusion or autonomic overaction which develop while the subject is standing, but are relieved on recumbency. Types of this include NEUROCARDIOGENIC SYNCOPE; POSTURAL ORTHOSTATIC TACHYCARDIA SYNDROME; and neurogenic ORTHOSTATIC HYPOTENSION. (From Noseworthy, JH., Neurological Therapeutics Principles and Practice, 2007, p2575-2576)" [MESH:D054971] synonym: "MITRAL VALVE PROLAPSE SYNDROME" EXACT [] synonym: "SLC6A2-related disorder" BROAD [] xref: EFO:1000645 xref: MESH:D054971 is_a: DOID:11569 ! neurocirculatory asthenia is_a: DOID:9003171 ! Primary Dysautonomias is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9004454 name: Multinodular Goiter 1 alt_id: MIM:138800 synonym: "Euthyroid Goiter" EXACT [] synonym: "Goiter, multinodular 1, with or without sertoli-leydig cell tumors" EXACT [] synonym: "GOITER, NONTOXIC, WITH INTRATHYROIDAL CALCIFICATION" EXACT [] synonym: "MNG1" EXACT [] synonym: "MULTINODULAR GOITER, ADOLESCENT" EXACT [] synonym: "SIMPLE GOITER" EXACT [] xref: MESH:C562732 xref: ORDO:276399 is_a: DOID:0050489 ! multinodular goiter created_by: mtutaj creation_date: 2022-02-10T16:10:36Z [Term] id: DOID:9004455 name: Femoral Hernia def: "A groin hernia occurring inferior to the inguinal ligament and medial to the FEMORAL VEIN and FEMORAL ARTERY. The femoral hernia sac has a small neck but may enlarge considerably when it enters the subcutaneous tissue of the thigh. It is caused by defects in the ABDOMINAL WALL." [MESH:D006550] synonym: "Femoral Hernias" EXACT [] xref: EFO:1001791 xref: MESH:D006550 is_a: DOID:9004681 ! Abdominal Hernia [Term] id: DOID:9004456 name: Pyometra def: "An accumulation of PUS in the uterine cavity (UTERUS). Pyometra generally indicates the presence of infections." [MESH:D055112] synonym: "Pyometras" EXACT [] xref: MESH:D055112 xref: RDO:0007701 is_a: DOID:345 ! uterine disease [Term] id: DOID:9004457 name: Susac Syndrome def: "A rare disorder consisting of microangiopathy of brain, retina, and inner ear ARTERIOLES. It is characterized by the clinical triad of encephalopathy, BRANCH RETINAL ARTERY OCCLUSION and VERTIGO/hearing loss." [MESH:D055955] synonym: "Retinocochleocerebral Vasculopathies" EXACT [] synonym: "Retinocochleocerebral Vasculopathy" EXACT [] synonym: "Susac's Syndrome" EXACT [] synonym: "Susacs Syndrome" EXACT [] xref: EFO:1001856 xref: MESH:D055955 is_a: DOID:225 ! syndrome is_a: DOID:2742 ! auditory system disease is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:8483 ! retinal artery occlusion is_a: DOID:9000343 ! Vision Disorders is_a: DOID:9001020 ! Eye Manifestations is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9004458 name: Hematocolpos def: "A blood-filled VAGINA that is obstructed." [MESH:D006399] xref: MESH:D006399 is_a: DOID:121 ! vaginal disease [Term] id: DOID:9004459 name: Trematode Infections def: "These are infections caused by infestation with worms of the class Trematoda." [MESH:D014201] synonym: "trematode Infection" EXACT [] xref: EFO:1001438 xref: MESH:D014201 is_a: DOID:883 ! parasitic helminthiasis infectious disease created_by: slaulede creation_date: 2022-09-29T15:38:23Z [Term] id: DOID:9004460 name: Maxillofacial Injuries def: "General or unspecified injuries involving the face and jaw (either upper, lower, or both)." [MESH:D008446] synonym: "Maxillofacial Injury" EXACT [] xref: MESH:D008446 is_a: DOID:9001053 ! Facial Injuries [Term] id: DOID:9004461 name: Familial Persistent Stuttering 2 alt_id: MIM:609261 alt_id: RDO:0009299 alt_id: RDO:0012934 synonym: "STUT2" EXACT [] xref: MESH:C563756 is_a: DOID:0060243 ! stuttering [Term] id: DOID:9004462 name: Atrophy def: "Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes." [MESH:D001284] synonym: "Atrophies" EXACT [] xref: EFO:1000096 xref: MESH:D001284 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9004464 name: Skin Neoplasms def: "Tumors or cancer of the SKIN." [MESH:D012878] synonym: "neoplasm of skin" EXACT [] synonym: "neoplasm of skin by site" EXACT [] synonym: "skin neoplasm" EXACT [] synonym: "tumor of the skin" EXACT [] xref: EFO:0004198 xref: MESH:D012878 is_a: DOID:37 ! skin disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9004465 name: Progressive Lymphoid System Deterioration alt_id: MIM:247630 xref: MESH:C565430 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9004467 name: Neurodevelopmental Disorder with Microcephaly, Cerebral Atrophy, and Visual Impairment def: "An autosomal recessive disorder characterized by global developmental delay, impaired intellectual development, facial dysmorphism, and microcephaly. Caused by compound heterozygous mutation in the DOHH gene on chromosome 19p13." [MIM:620066] synonym: "DOHH-RELATED CONDITION" EXACT [] synonym: "DOHH RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "NEDMVIC" EXACT [] xref: MIM:620066 is_a: DOID:10907 ! microcephaly is_a: DOID:9000343 ! Vision Disorders is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9277 ! primary cerebellar degeneration created_by: mtutaj creation_date: 2022-11-21T12:08:27Z [Term] id: DOID:9004468 name: Neurodevelopmental Disorder with or without Anomalies of the Brain, Eye, or Heart def: "An autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. (OMIM)" [] synonym: "NEDBEH" EXACT [] synonym: "RERE-RELATED CONDITION" EXACT [] xref: EFO:0009645 xref: MIM:616975 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9004470 name: Craniosynostosis 4 synonym: "CRS4" EXACT [] xref: MIM:600775 is_a: DOID:2340 ! craniosynostosis created_by: mtutaj creation_date: 2019-03-26T13:07:46Z [Term] id: DOID:9004471 name: VISS syndrome def: "This disease is a generalized connective tissue disorder characterized by early-onset thoracic aortic aneurysm and other connective tissue findings, such as aneurysm and tortuosity of other arteries, joint hypermobility, skin laxity, and hernias, as well as craniofacial dysmorphic features, structural cardiac defects, skeletal anomalies, and motor developmental delay." [MIM:619472] synonym: "IPO8-RELATED AORTOPATHY" EXACT [] synonym: "IPO8-RELATED CONDITION" EXACT [] synonym: "VASCULAR ANEURYSM, IMMUNE DYSREGULATION, SKELETAL ANOMALIES, AND SKIN AND JOINT LAXITY" EXACT [] synonym: "VISS" EXACT [] xref: MIM:619472 xref: NCI:C198610 is_a: DOID:65 ! connective tissue disease is_a: DOID:9008582 ! Developmental Disease created_by: slaulede creation_date: 2021-10-21T09:53:42Z [Term] id: DOID:9004472 name: Mental Health Wellness 2 synonym: "MHW2" EXACT [] xref: MIM:603664 xref: RDO:0008897 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:9004473 name: Monocytosis def: "An abnormal increase in the number of monocytes in the circulating blood. [Merriam-Webster]" [] is_a: DOID:9001039 ! Leukocytosis created_by: rgd creation_date: 2016-02-19T00:00:00Z [Term] id: DOID:9004474 name: Bilateral Medial Tibial Torsion alt_id: MIM:188800 xref: MESH:C566045 is_a: DOID:9000314 ! Torsion Abnormality [Term] id: DOID:9004476 name: Retroperitoneal Neoplasms alt_id: RDO:0000739 def: "New abnormal growth of tissue in the RETROPERITONEAL SPACE." [MESH:D012186] synonym: "neoplasm of retroperitoneum" EXACT [] synonym: "neoplasm of the retroperitoneum" EXACT [] synonym: "retroperitoneal neoplasm" EXACT [] synonym: "tumor of retroperitoneum" EXACT [] xref: MESH:D012186 is_a: DOID:9003078 ! Abdominal Neoplasms [Term] id: DOID:9004477 name: Borrelia Infections def: "Infections with bacteria of the genus BORRELIA." [MESH:D001899] synonym: "Borrelia Infection" EXACT [] xref: EFO:1000842 xref: MESH:D001899 is_a: DOID:9002423 ! Spirochaetales Infections is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9004478 name: Islet Cell Tumor Syndrome synonym: "Bilateral pheochromocytoma and islet cell adenoma of the pancreas" EXACT [] synonym: "Chromaffinoma" EXACT [] synonym: "Familial islet cell tumors" EXACT [] synonym: "Familial pheochromocytoma" EXACT [] xref: MESH:C531777 is_a: DOID:1799 ! islet cell tumor is_a: DOID:225 ! syndrome [Term] id: DOID:9004479 name: TDP-43 Proteinopathies def: "Diseases characterized by the presence of abnormally phosphorylated, ubiquitinated, and cleaved DNA-binding protein TDP-43 in affected brain and spinal cord. Inclusions of the pathologic protein in neurons and glia, without the presence of AMYLOID, is the major feature of these conditions, thus making these proteinopathies distinct from most other neurogenerative disorders in which protein misfolding leads to brain amyloidosis. Both frontotemporal lobar degeneration and AMYOTROPHIC LATERAL SCLEROSIS exhibit this common method of pathogenesis and thus they may represent two extremes of a continuous clinicopathological spectrum of one disease." [MESH:D057177] synonym: "TDP-43 proteinopathy" EXACT [] xref: MESH:D057177 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9000842 ! Proteostasis Deficiencies [Term] id: DOID:9004480 name: Foveal Hypoplasia with Anterior Segment Anomalies xref: MESH:C565006 xref: RDO:0013768 is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9004481 name: Mannose 6-Phosphate Receptor Recognition Defect, Lebanese Type alt_id: MIM:154570 synonym: "Phosphodiester Glycoside Deficiency" EXACT [] xref: MESH:C563601 xref: MONDO:0007945 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9004482 name: Glycogen Storage Disease IIIB synonym: "Glycogen Storage Disease, Type IIIb" EXACT [] synonym: "GSD IIIB" EXACT [] xref: MESH:C566890 is_a: DOID:2748 ! glycogen storage disease III [Term] id: DOID:9004484 name: Sepsis def: "Systemic inflammatory response syndrome with a proven or suspected infectious etiology. When sepsis is associated with organ dysfunction distant from the site of infection, it is called severe sepsis. When sepsis is accompanied by HYPOTENSION despite adequate fluid infusion, it is called SEPTIC SHOCK." [MESH:D018805] synonym: "Blood Poisoning" EXACT [] synonym: "blood poisonings" EXACT [] synonym: "Pyaemia" EXACT [] synonym: "Pyaemias" EXACT [] synonym: "Pyemia" EXACT [] synonym: "Pyemias" EXACT [] synonym: "Pyohemia" EXACT [] synonym: "Pyohemias" EXACT [] synonym: "SEPSIS, SUSCEPTIBILITY TO" RELATED [] synonym: "Septicemia" EXACT [] synonym: "Septicemias" EXACT [] synonym: "septic shock" NARROW [] synonym: "severe sepsis" NARROW [] xref: EFO:0001420 xref: MESH:D018805 is_a: DOID:9000169 ! Systemic Inflammatory Response Syndrome [Term] id: DOID:9004485 name: Cataract, Pulverulent xref: MESH:C563426 is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9004486 name: Drug-induced Neutropenia def: "A significant reduction in NEUTROPHIL count associated with CHEMOTHERAPY or other drug treatment." [] is_a: DOID:1227 ! neutropenia is_a: DOID:9001142 ! Drug-Induced Agranulocytosis created_by: rgd creation_date: 2016-06-10T00:00:00Z [Term] id: DOID:9004488 name: Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia, and Subnormal Mentality alt_id: MIM:219721 xref: MESH:C565658 is_a: DOID:1059 ! intellectual disability is_a: DOID:13382 ! megaloblastic anemia is_a: DOID:1485 ! cystic fibrosis is_a: DOID:9008114 ! Helicobacter Infections [Term] id: DOID:9004489 name: DEAFNESS, CONGENITAL, AND ADULT-ONSET PROGRESSIVE LEUKOENCEPHALOPATHY def: "An autosomal recessive complex neurodegenerative disorder characterized by congenital neurosensory deafness followed by onset of neurodegenerative symptoms, including pyramidal signs and cognitive decline, in young adulthood. Brain imaging shows diffuse white matter abnormalities affecting various brain regions, consistent with a progressive leukoencephalopathy." [MIM:619196] synonym: "congenital deafness and adult-onset progressive leukoencephalopathy" EXACT [] synonym: "DEAPLE" EXACT [] xref: MIM:619196 is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9008681 ! Deafness created_by: slaulede creation_date: 2021-04-06T18:09:33Z [Term] id: DOID:9004490 name: Rhizomelic Syndrome alt_id: MIM:268250 synonym: "Familial rhizomelic dysplasia" EXACT [] xref: MESH:C537611 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome [Term] id: DOID:9004491 name: Anonychia Onychodystrophy synonym: "Absent nails and dystrophic nails" EXACT [] xref: MESH:C536378 xref: RDO:0001941 is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9004492 name: Familial Amyloidosis alt_id: RDO:0000616 def: "Diseases in which there is a familial pattern of AMYLOIDOSIS." [MESH:D028226] synonym: "Amyloidosis - hereditaries" EXACT [] synonym: "Amyloidosis hereditary" EXACT [] synonym: "Familial Amyloidoses" EXACT [] synonym: "Hereditary Amyloidoses" EXACT [] xref: MESH:D028226 xref: NCI:C84555 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis [Term] id: DOID:9004493 name: Camptocormia synonym: "Bent spine" EXACT [] synonym: "Bent Spine Syndrome" EXACT [] synonym: "Camptocormism" EXACT [] xref: MESH:C537968 is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:9002608 ! Spinal Curvatures is_a: DOID:9004757 ! Axial Myopathy, Late-Onset [Term] id: DOID:9004494 name: Bidirectional Tachycardia synonym: "Bidirectional ventricular tachycardia" EXACT [] xref: MESH:C535438 xref: RDO:0000549 is_a: DOID:9002554 ! Tachycardia [Term] id: DOID:9004495 name: Faciocardiorenal Syndrome alt_id: MIM:227280 synonym: "Eastman Bixler syndrome" EXACT [] xref: MESH:C536388 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate [Term] id: DOID:9004496 name: Hypertaurinuric Cardiomyopathy alt_id: MIM:145350 xref: MESH:C564157 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9004497 name: Floriform Cataract xref: MESH:C566160 is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9004498 name: Cumulative Trauma Disorders def: "Harmful and painful condition caused by overuse or overexertion of some part of the musculoskeletal system, often resulting from work-related physical activities. It is characterized by inflammation, pain, or dysfunction of the involved joints, bones, ligaments, and nerves." [MESH:D012090] synonym: "Cumulative Trauma Disorder" EXACT [] synonym: "Overuse Injuries" EXACT [] synonym: "Overuse Injury" EXACT [] synonym: "Overuse Syndrome" EXACT [] synonym: "Overuse Syndromes" EXACT [] synonym: "Repetition Strain Injuries" EXACT [] synonym: "Repetition Strain Injury" EXACT [] synonym: "Repetitive Motion Disorder" EXACT [] synonym: "Repetitive Motion Disorders" EXACT [] synonym: "Repetitive Strain Injuries" EXACT [] synonym: "Repetitive Strain Injury" EXACT [] synonym: "Repetitive Stress Injuries" EXACT [] synonym: "Repetitive Stress Injury" EXACT [] xref: MESH:D012090 xref: RDO:0005142 is_a: DOID:9000934 ! Sprains and Strains [Term] id: DOID:9004499 name: Noncirrhotic Portal Hypertension 2 def: "An autosomal recessive disorder characterized by signs of liver dysfunction that become apparent in the first decades of life. Caused by homozygous mutation in the GIMAP5 gene on chromosome 7q36. (OMIM)" [] synonym: "NCPH2" EXACT [] xref: MIM:619463 is_a: DOID:10762 ! portal hypertension created_by: mtutaj creation_date: 2021-08-06T16:19:35Z [Term] id: DOID:9004500 name: Mesomelic Dysplasia, Savarirayan Type alt_id: MIM:605274 synonym: "Mesomelic Dysplasia with Absent Fibulas and Triangular Tibias" EXACT [] xref: MESH:C565349 is_a: DOID:9009006 ! Mesomelic Dysplasia [Term] id: DOID:9004501 name: Meningeal Tuberculosis def: "A form of bacterial meningitis caused by MYCOBACTERIUM TUBERCULOSIS or rarely MYCOBACTERIUM BOVIS. The organism seeds the meninges and forms microtuberculomas which subsequently rupture. The clinical course tends to be subacute, with progressions occurring over a period of several days or longer. Headache and meningeal irritation may be followed by SEIZURES, cranial neuropathies, focal neurologic deficits, somnolence, and eventually COMA. The illness may occur in immunocompetent individuals or as an OPPORTUNISTIC INFECTION in the ACQUIRED IMMUNODEFICIENCY SYNDROME and other immunodeficiency syndromes. (From Adams et al., Principles of Neurology, 6th ed, pp717-9)" [MESH:D014390] synonym: "meningeal tuberculoses" EXACT [] synonym: "TB Meningitides" EXACT [] synonym: "TB Meningitis" EXACT [] synonym: "Tubercular Meningitides" EXACT [] synonym: "Tubercular Meningitis" EXACT [] synonym: "Tuberculosis Meningitides" EXACT [] synonym: "Tuberculosis Meningitis" EXACT [] synonym: "Tuberculous Hypertrophic Pachymeningitides" EXACT [] synonym: "Tuberculous Hypertrophic Pachymeningitis" EXACT [] synonym: "Tuberculous Meningitides" EXACT [] synonym: "tuberculous meningitis" EXACT [] xref: EFO:1000039 xref: MESH:D014390 is_a: DOID:1638 ! central nervous system tuberculosis is_a: DOID:9470 ! bacterial meningitis [Term] id: DOID:9004502 name: Patterson Pseudoleprechaunism Syndrome alt_id: MIM:169170 synonym: "Patterson's leprechaunoid syndrome" EXACT [] xref: MESH:C536310 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9003984 ! Hyperpigmentation is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004503 name: Hysteria def: "Historical term for a chronic, but fluctuating, disorder beginning in early life and characterized by recurrent and multiple somatic complaints not apparently due to physical illness. This diagnosis is not used in contemporary practice." [MESH:D007046] synonym: "Hysterical Neuroses" EXACT [] xref: MESH:D007046 is_a: DOID:334 ! histrionic personality disorder [Term] id: DOID:9004504 name: Bonneau Syndrome alt_id: MIM:263630 synonym: "Polysyndactyly with Cardiac Malformation" EXACT [] xref: MESH:C564875 is_a: DOID:11193 ! syndactyly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome [Term] id: DOID:9004505 name: Visceral Heterotaxy 3, Autosomal alt_id: MIM:606325 synonym: "HTX3" EXACT [] xref: MESH:C565237 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:9004506 name: VITAMIN D-DEPENDENT RICKETS, TYPE 3 def: "An autosomal disease characterized by early-onset rickets, reduced serum levels of the vitamin D metabolites 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D, and deficient responsiveness to the parent molecule as well as activated forms of vitamin D." [MIM:619073] synonym: "VDDR3" EXACT [] synonym: "Vitamin D-Dependent Rickets 3" EXACT [] synonym: "Vitamin D-dependent rickets-3" EXACT [] xref: MIM:619073 is_a: DOID:0080883 ! vitamin D-dependent rickets created_by: mtutaj creation_date: 2020-10-27T16:39:37Z [Term] id: DOID:9004507 name: Hirsutism def: "A condition observed in WOMEN and CHILDREN when there is excess coarse body hair of an adult male distribution pattern, such as facial and chest areas. It is the result of elevated ANDROGENS from the OVARIES, the ADRENAL GLANDS, or exogenous sources. The concept does not include HYPERTRICHOSIS, which is an androgen-independent excessive hair growth." [MESH:D006628] xref: MESH:D006628 is_a: DOID:421 ! hair disease is_a: DOID:9005330 ! Virilism [Term] id: DOID:9004508 name: Mucocele alt_id: OMIA:001524 def: "A retention cyst of the salivary gland, lacrimal sac, paranasal sinuses, appendix, or gallbladder. (Stedman, 26th ed)" [MESH:D009078] synonym: "Gallbladder mucoceles" NARROW [] synonym: "Mucoceles" EXACT [] xref: MESH:D009078 is_a: DOID:9007583 ! Cysts [Term] id: DOID:9004509 name: Otoonychoperoneal Syndrome alt_id: MIM:259780 xref: MESH:C564912 is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9001487 ! Facies [Term] id: DOID:9004510 name: Microgastria Limb Reduction Defect alt_id: MIM:156810 synonym: "Congenital microgastria and limb reduction defects" EXACT [] synonym: "Microgastria-limb reduction defects association" EXACT [] xref: MESH:C537554 is_a: DOID:10629 ! microphthalmia is_a: DOID:1931 ! hypothalamic disease is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9007253 ! Hamartoma [Term] id: DOID:9004511 name: Congenital Disorder of Glycosylation Type IIz def: "An autosomal recessive disorder characterized by poor overall growth, severe global developmental delay, seizures, contractures, hypotonia, spasticity, and brain imaging abnormalities. Caused by homozygous mutation in the CAMLG gene on chromosome 5q23." [MIM:620201] synonym: "CDG2Z" EXACT [] synonym: "CDG IIz" EXACT [] synonym: "CDGIIZ" EXACT [] xref: MIM:620201 is_a: DOID:0050571 ! congenital disorder of glycosylation type II created_by: mtutaj creation_date: 2023-01-20T08:14:48Z [Term] id: DOID:9004512 name: Craniosynostosis 2 alt_id: MIM:604757 synonym: "craniosynostosis, Boston-type" EXACT [] synonym: "craniosynostosis, type 2" EXACT [] synonym: "CRS2" EXACT [] synonym: "CSB" EXACT [] synonym: "Warman Mulliken Hayward syndrome" EXACT [] xref: MESH:C565753 is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9004513 name: Craniosynostosis with Ocular Abnormalities and Hallucal Defects alt_id: MIM:608279 xref: MESH:C564263 is_a: DOID:2340 ! craniosynostosis is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9004514 name: Acromegaloid Features, Overgrowth, Cleft Palate, and Hernia alt_id: MIM:606049 synonym: "AOCH" EXACT [] xref: MESH:C535656 is_a: DOID:1283 ! enterocele is_a: DOID:2449 ! acromegaly is_a: DOID:674 ! cleft palate is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004515 name: Left Ventricular Noncompaction 7 alt_id: RDO:9000514 synonym: "LVNC7" EXACT [] synonym: "MIB1-RELATED CONDITION" EXACT [] xref: MIM:615092 xref: NCI:C157266 is_a: DOID:0060480 ! left ventricular noncompaction [Term] id: DOID:9004516 name: Progressive Deafness with Stapes Fixation alt_id: MIM:601449 xref: MESH:C563316 is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9004518 name: Dysferlinopathy xref: MESH:C537995 is_a: DOID:11724 ! limb-girdle muscular dystrophy [Term] id: DOID:9004519 name: Congenital Stationary Night Blindness 1I synonym: "congenital stationary night blindness, type 1I" EXACT [] synonym: "CSNB1I" EXACT [] xref: MIM:618555 is_a: DOID:0050534 ! congenital stationary night blindness created_by: mtutaj creation_date: 2019-09-03T14:59:10Z [Term] id: DOID:9004521 name: Intellectual Developmental Disorder with Behavioral Abnormalities and Craniofacial Dysmorphism with or without Seizures def: "A disease characterized by impaired intellectual development or developmental delay of varying severity with impaired motor skills and language delay. Macrocephaly, obesity, and overgrowth are frequently seen. Approximately half of patients experience seizures, and neurobehavioral disorders including autism are usually present." [MIM:618725] synonym: "IDDBCS" EXACT [] synonym: "NEDMS" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH MACROCEPHALY AND WITH OR WITHOUT SEIZURES" EXACT [] synonym: "PHF21A-RELATED CONDITION" EXACT [] xref: EFO:0010660 xref: MIM:618725 is_a: DOID:1826 ! epilepsy is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2020-02-14T13:04:05Z [Term] id: DOID:9004522 name: Pallister W Syndrome alt_id: MIM:311450 synonym: "Median cleft upper lip, mental retardation and pugilistic facies" EXACT [] synonym: "W syndrome" EXACT [] xref: MESH:C538106 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004523 name: Perceptual Disorders def: "Cognitive disorders characterized by an impaired ability to perceive the nature of objects or concepts through use of the sense organs. These include spatial neglect syndromes, where an individual does not attend to visual, auditory, or sensory stimuli presented from one side of the body." [MESH:D010468] synonym: "Hemisensory Neglect" EXACT [] synonym: "Hemisensory Neglects" EXACT [] synonym: "Hemispatial Neglect" EXACT [] synonym: "Hemispatial Neglects" EXACT [] synonym: "Perceptual Disorder" EXACT [] synonym: "Sensory Neglect" EXACT [] synonym: "Sensory Neglects" EXACT [] synonym: "Somatosensory Discrimination Disorder" EXACT [] synonym: "Somatosensory Discrimination Disorders" EXACT [] xref: MESH:D010468 is_a: DOID:9002320 ! Neurobehavioral Manifestations [Term] id: DOID:9004524 name: Granulomatous Mastitis def: "A rare, benign, inflammatory breast disease occurring in premenopausal women shortly after a recent pregnancy. The origin is unknown but it is commonly mistaken for malignancy and sometimes associated with BREAST FEEDING and the use of ORAL CONTRACEPTIVES." [MESH:D058890] xref: MESH:D058890 is_a: DOID:10690 ! mastitis [Term] id: DOID:9004525 name: Vertebral Artery Dissection def: "Splitting of the vessel wall in the VERTEBRAL ARTERY. Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the vertebral artery, aneurysm formation, or THROMBOEMBOLISM. Vertebral artery dissection is often associated with TRAUMA and injuries to the head-neck region but can occur spontaneously." [MESH:D020217] synonym: "Dissecting Vertebral Artery Aneurysm" EXACT [] synonym: "Spontaneous Vertebral Artery Dissection" EXACT [] synonym: "Traumatic Vertebral Artery Dissection" EXACT [] synonym: "Vertebral Artery Dissections" EXACT [] xref: MESH:D020217 xref: RDO:0007356 is_a: DOID:9001829 ! Cerebrovascular Trauma is_a: DOID:9006045 ! Dissecting Aneurysm [Term] id: DOID:9004527 name: YAO SYNDROME def: "An autoinflammatory disease characterized by periodic fever, dermatitis, arthritis, and swelling of the distal extremities, as well as gastrointestinal and sicca-like symptoms." [MIM:617321] synonym: "SUSCEPTIBILITY TO YAO SYNDROME" RELATED [] synonym: "YAOS" EXACT [] xref: MIM:617321 is_a: DOID:225 ! syndrome is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: slaulede creation_date: 2021-01-21T12:58:15Z [Term] id: DOID:9004528 name: Kozlowski Warren Fisher Syndrome synonym: "Cloverleaf skull generalised bone dysplasia" EXACT [] xref: MESH:C537614 is_a: DOID:0080006 ! bone development disease is_a: DOID:13481 ! thanatophoric dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:9004529 name: Presbycusis 2 alt_id: MIM:612976 synonym: "Age-Related Hearing Impairment 2" EXACT [] synonym: "ARHI2" EXACT [] xref: MESH:C567834 is_a: DOID:9000307 ! Presbycusis [Term] id: DOID:9004530 name: Hypertriglyceridemic Waist def: "A screening phenotype consisting of both elevated WAIST CIRCUMFERENCE and elevated fasting TRIGLYCERIDES level." [MESH:D064250] synonym: "Enlarged Waist Elevated Triglycerides" EXACT [] xref: MESH:D064250 xref: RDO:0015836 is_a: DOID:9000071 ! Signs and Symptoms is_a: DOID:9006599 ! Hypertriglyceridemia [Term] id: DOID:9004531 name: Cardiovirus Infections def: "Infections caused by viruses of the genus CARDIOVIRUS, family PICORNAVIRIDAE." [MESH:D018188] synonym: "Cardiovirus infection" EXACT [] synonym: "Cardiovirus infectious disease" EXACT [] xref: EFO:0007194 xref: MESH:D018188 xref: MONDO:0005691 is_a: DOID:9003470 ! Picornaviridae Infections [Term] id: DOID:9004532 name: Restless Legs Syndrome 2 alt_id: MIM:608831 synonym: "Autosomal dominant restless legs syndrome" EXACT [] synonym: "restless legs syndrome, susceptibility to, 2" RELATED [] synonym: "RLS2" EXACT [] xref: MESH:C538360 is_a: DOID:0050425 ! restless legs syndrome [Term] id: DOID:9004533 name: Orthostatic Hypotensive Disorder, Streeten Type alt_id: MIM:143850 synonym: "Hyperbradykininism" EXACT [] synonym: "OHDS" EXACT [] synonym: "Orthostatic Hypotensive Disorder" EXACT [] xref: MESH:C564174 xref: RDO:0013221 is_a: DOID:9005950 ! Orthostatic Hypotension [Term] id: DOID:9004534 name: Laryngeal Edema def: "Abnormal accumulation of fluid in tissues of any part of the LARYNX, commonly associated with laryngeal injuries and allergic reactions." [MESH:D007819] synonym: "Laryngeal Edemas" EXACT [] xref: MESH:D007819 is_a: DOID:786 ! laryngeal disease [Term] id: DOID:9004535 name: Cytokine Release Syndrome def: "A systemic inflammatory response triggered by a variety of factors used in IMMUNOTHERAPY. It is characterized by marked elevations of various inflammatory CYTOKINES and by the following associated conditions: DYSPNEA; FEVER; HEADACHE; HYPOTENSION; NAUSEA; RASH; TACHYCARDIA and/or HYPOXIA. (MESH)" [] xref: MESH:D000080424 is_a: DOID:9000169 ! Systemic Inflammatory Response Syndrome created_by: mtutaj creation_date: 2020-01-30T17:11:44Z [Term] id: DOID:9004536 name: Rett Syndrome, Zappella Variant xref: MESH:C567442 is_a: DOID:1206 ! Rett syndrome [Term] id: DOID:9004537 name: Deafness, Nephritis, Anorectal Malformation synonym: "Dominant ano-rectal malformation, nephritis and nerve-deafness" EXACT [] xref: MESH:C535996 is_a: DOID:0060140 ! cortical deafness is_a: DOID:2527 ! nephrosis is_a: DOID:9001471 ! Anorectal Malformations is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004538 name: Hearing Loss def: "A general term for the complete or partial loss of the ability to hear from one or both ears." [MESH:D034381] synonym: "Hearing Impairment" EXACT [] synonym: "Hereditary Hearing Loss And Deafness" NARROW [] synonym: "Hypoacuses" EXACT [] synonym: "Hypoacusis" EXACT [] synonym: "NONSYNDROMIC HEARING LOSS, DOMINANT" NARROW [] synonym: "NONSYNDROMIC HEARING LOSS, MIXED" NARROW [] synonym: "NONSYNDROMIC HEARING LOSS, RECESSIVE" NARROW [] synonym: "NONSYNDROMIC HEARING LOSS, X-LINKED" NARROW [] xref: EFO:0004238 xref: MESH:D034381 is_a: DOID:9002500 ! Hearing Disorders [Term] id: DOID:9004540 name: Islet Cell Adenomatosis alt_id: MIM:147630 synonym: "INSDM" EXACT [] synonym: "insulinomatosis and diabetes mellitus" EXACT [] xref: MESH:C563258 is_a: DOID:9000283 ! Islet Cell Adenoma [Term] id: DOID:9004541 name: Heart Rupture def: "Disease-related laceration or tearing of tissues of the heart, including the free-wall MYOCARDIUM; HEART SEPTUM; PAPILLARY MUSCLES; CHORDAE TENDINEAE; and any of the HEART VALVES. Pathological rupture usually results from myocardial infarction (HEART RUPTURE, POST-INFARCTION)." [MESH:D006341] synonym: "Cardiac Free Wall Rupture" EXACT [] synonym: "Cardiac Rupture" EXACT [] synonym: "Cardiac Ruptures" EXACT [] synonym: "Free Wall Rupture, Heart" EXACT [] synonym: "Heart Ruptures" EXACT [] synonym: "Ventricular Free Wall Rupture" EXACT [] xref: MESH:D006341 is_a: DOID:114 ! heart disease [Term] id: DOID:9004542 name: Antithrombin Deficiency Type 2 xref: MESH:C537779 xref: RDO:0003680 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:9004543 name: NEUROOCULAR SYNDROME 1 def: "This is a disease that encompasses a broad spectrum of overlapping anomalies, with developmental delay or impaired intellectual development and eye abnormalities that show marked variability." [MIM:619539] synonym: "NEUROOCULAR SYNDROME" BROAD [] synonym: "NOC" BROAD [] xref: MIM:619539 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008296 ! Eye Abnormalities created_by: slaulede creation_date: 2021-10-22T10:40:30Z [Term] id: DOID:9004544 name: Chitayat Meunier Hodgkinson Syndrome synonym: "Robin sequence with facial and digital anomalies" EXACT [] xref: MESH:C535926 xref: RDO:0001297 is_a: DOID:225 ! syndrome is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9004545 name: Birth Injuries def: "Mechanical or anoxic trauma incurred by the infant during labor or delivery." [MESH:D001720] synonym: "Birth Injury" EXACT [] xref: MESH:D001720 is_a: DOID:9001600 ! Wounds and Injuries is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9004546 name: Microphthalmia with Cyst, Bilateral Facial Clefts, and Limb Anomalies alt_id: MIM:607597 xref: MESH:C564370 is_a: DOID:10629 ! microphthalmia is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004547 name: Thyroid Neoplasms alt_id: RDO:0002634 def: "Tumors or cancer of the THYROID GLAND." [MESH:D013964] synonym: "neoplasm of the thyroid gland" EXACT [] synonym: "neoplasm of thyroid gland" EXACT [SNOMEDCT_2005_07_31:127018007] synonym: "thyroid gland neoplasm" EXACT [NCI2004_11_17:C3414] synonym: "thyroid neoplasm" EXACT [] xref: EFO:0003841 xref: MESH:D013964 xref: NCI:C179056 is_a: DOID:50 ! thyroid gland disease is_a: DOID:9006169 ! Head and Neck Neoplasms is_a: DOID:9007803 ! Endocrine Gland Neoplasms [Term] id: DOID:9004548 name: Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities alt_id: DOID:9007507 alt_id: MIM:619026 def: "An autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination" [MIM:619026] synonym: "CPSQ1" EXACT [] synonym: "NEDSWMA" EXACT [] synonym: "quadriplegic spastic cerebral palsy 1" EXACT [] xref: MESH:C567853 is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2020-12-15T13:30:45Z [Term] id: DOID:9004549 name: Feigenbaum Bergeron Richardson Syndrome xref: MESH:C536178 is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:2349 ! arteriosclerosis is_a: DOID:9005154 ! Myoclonic Epilepsies is_a: DOID:9006380 ! Bilateral Hearing Loss is_a: DOID:9007722 ! Myoclonus is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9004550 name: Iatrogenic Disease def: "Any adverse condition in a patient occurring as the result of treatment by a physician, surgeon, or other health professional, especially infections acquired by a patient during the course of treatment." [MESH:D007049] synonym: "Hospital Acquired Condition" EXACT [] synonym: "Hospital-Acquired Conditions" EXACT [] synonym: "Iatrogenic Diseases" EXACT [] xref: MESH:D007049 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9004551 name: Charcot-Marie-Tooth Disease Type 2A2 def: "A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MFN2 gene on chromosome 1p36.2. (DO)" [] synonym: "Charcot-Marie-Tooth Disease, Axonal, Type 2A2" EXACT [] synonym: "CHARCOT-MARIE-TOOTH DISEASE, NEURONAL, TYPE 2A2" EXACT [] synonym: "Charcot-Marie-Tooth disease type 2A2" EXACT [] synonym: "Charcot-Marie-Tooth neuronal type 2A2" EXACT [] synonym: "CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2A2" EXACT [] synonym: "Charcot-Marie-Tooth neuropathy type 2A2" EXACT [] synonym: "CMT2A2" EXACT [] synonym: "hereditary motor and sensory neuropathy 2A2" EXACT [] synonym: "hereditary motor and sensory neuropathy IIA2" EXACT [] synonym: "HMSN2A2" EXACT [] synonym: "HMSN IIA2" EXACT [] synonym: "HMSNIIA2" EXACT [] xref: MESH:C563757 xref: ORDO:99947 is_a: DOID:9008563 ! Charcot-Marie-Tooth Disease, Type 2A created_by: mtutaj creation_date: 2020-01-15T10:14:20Z [Term] id: DOID:9004552 name: Genu Varum def: "An outward slant of the thigh in which the knees are wide apart and the ankles close together. Genu varum can develop due to skeletal and joint dysplasia (e.g., OSTEOARTHRITIS; Blount's disease); and malnutrition (e.g., RICKETS; FLUORIDE POISONING)." [MESH:D056305] synonym: "Bow Leg" EXACT [] synonym: "Bow Legs" EXACT [] synonym: "Genu Varus" EXACT [] xref: MESH:D056305 xref: RDO:0002856 is_a: DOID:0080001 ! bone disease [Term] id: DOID:9004553 name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE def: "This disease is characterized by the onset of progressive gait and truncal ataxia in early childhood. Affected individuals have muscle weakness and atrophy and sensorimotor axonal neuropathy." [MIM:620636] synonym: "CONDCAC" EXACT [] xref: MIM:620636 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:1289 ! neurodegenerative disease created_by: slaulederkind creation_date: 2024-03-04T12:43:19Z [Term] id: DOID:9004554 name: Developmental and Epileptic Encephalopathy 111 def: "An autosomal recessive severe neurologic disorder characterized by early-onset refractory seizures, global developmental delay, hypotonia, impaired gross motor development, impaired intellectual development, and absent speech. Caused by homozygous mutation in the DEPDC5 gene on chromosome 22q12." [MIM:620504] synonym: "DEE111" EXACT [] synonym: "DEPDC5-RELATED CONDITION" BROAD [] xref: MIM:620504 is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: mtutaj creation_date: 2023-09-22T10:19:57Z [Term] id: DOID:9004555 name: Retinal Degeneration and Epilepsy alt_id: MIM:267740 xref: MESH:C564847 is_a: DOID:1826 ! epilepsy is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:9004556 name: Melena def: "The black, tarry, foul-smelling FECES that contain degraded blood." [MESH:D008551] synonym: "Melenas" EXACT [] xref: MESH:D008551 is_a: DOID:9008975 ! Gastrointestinal Hemorrhage [Term] id: DOID:9004557 name: Franceschini Vardeu Guala syndrome xref: GARD:2371 xref: MESH:C537272 xref: MONDO:0023182 is_a: DOID:5572 ! Beckwith-Wiedemann syndrome [Term] id: DOID:9004559 name: Jaw Fractures def: "Fractures of the upper or lower jaw." [MESH:D007572] synonym: "Jaw Fracture" EXACT [] xref: EFO:0009612 xref: MESH:D007572 is_a: DOID:9002209 ! Skull Fractures is_a: DOID:9004460 ! Maxillofacial Injuries [Term] id: DOID:9004560 name: Chromosome 4, Trisomy 4q25 qter synonym: "Duplication 4q25 qter" EXACT [] synonym: "Trisomy 4q25 qter" EXACT [] xref: MESH:C537646 xref: RDO:0003522 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9004561 name: Dental Fissures def: "Deep grooves or clefts in the surface of teeth equivalent to class 1 cavities in Black's classification of dental caries." [MESH:D003750] synonym: "Dental Fissure" EXACT [] xref: MESH:D003750 xref: RDO:0005328 is_a: DOID:216 ! dental caries [Term] id: DOID:9004562 name: Smoke Inhalation Injury def: "Pulmonary injury following the breathing in of toxic smoke from burning materials such as plastics, synthetics, building materials, etc. This injury is the most frequent cause of death in burn patients." [MESH:D015208] synonym: "Smoke Inhalation Injuries" EXACT [] xref: MESH:D015208 xref: RDO:0006851 is_a: DOID:9001482 ! Inhalation Burns [Term] id: DOID:9004563 name: Maxillofacial Abnormalities def: "Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones." [MESH:D019767] synonym: "Maxillofacial Abnormality" EXACT [] xref: MESH:D019767 xref: RDO:0000753 is_a: DOID:9006733 ! Stomatognathic System Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004564 name: Cantu Sanchez-Corona Fragoso Syndrome synonym: "Severe mental deficiency, proportionate dwarfism, and delayed sexual maturation" EXACT [] xref: MESH:C535571 xref: RDO:0000769 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001239 ! Delayed Puberty is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9004566 name: Lambert Syndrome alt_id: MIM:245550 synonym: "Branchial dysplasia, clubfoot, inguinal hernia, and biliary atresia" EXACT [] xref: MESH:C538396 is_a: DOID:0060320 ! inguinal hernia is_a: DOID:1059 ! intellectual disability is_a: DOID:11836 ! clubfoot is_a: DOID:13608 ! biliary atresia is_a: DOID:225 ! syndrome [Term] id: DOID:9004567 name: Short Stature and Microcephaly with Genital Anomalies synonym: "SSMGA" EXACT [] xref: EFO:0010665 xref: MIM:618702 is_a: DOID:10907 ! microcephaly is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2019-12-30T08:11:07Z [Term] id: DOID:9004568 name: Richieri Costa Da Silva Syndrome synonym: "Tibial hemimelia-split hand-foot syndrome" EXACT [] xref: MESH:C535675 xref: RDO:0000929 is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9004569 name: Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 1 synonym: "Isolated Left Ventricular Noncompaction, Autosomal Dominant" EXACT [] xref: MESH:C565821 is_a: DOID:0060480 ! left ventricular noncompaction [Term] id: DOID:9004570 name: Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, and Growth and Developmental Retardation alt_id: MIM:608227 xref: MESH:C564271 is_a: DOID:0080074 ! neural tube defect is_a: DOID:1682 ! congenital heart disease is_a: DOID:83 ! cataract is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004571 name: Patella Hypoplasia Mental Retardation synonym: "Mental retardation with patellar hypoplasia and luxation" EXACT [] xref: MESH:C536308 xref: RDO:0001835 is_a: DOID:1059 ! intellectual disability is_a: DOID:9004266 ! Patellar Dislocation [Term] id: DOID:9004572 name: Dentinogenesis Imperfecta, Shields Type 3 synonym: "Brandywine type dentinogenesis imperfecta" EXACT [] synonym: "Dentinogenesis Imperfecta, Shields Type III" EXACT [] synonym: "DGI-III" EXACT [] xref: GARD:10144 xref: MESH:C538216 xref: MIM:125500 xref: MONDO:0007442 xref: ORDO:166265 is_a: DOID:4154 ! dentinogenesis imperfecta [Term] id: DOID:9004574 name: Acalvaria xref: MESH:C535570 is_a: DOID:0080074 ! neural tube defect [Term] id: DOID:9004575 name: Neoplasm Invasiveness def: "Ability of neoplasms to infiltrate and actively destroy surrounding tissue." [MESH:D009361] synonym: "CANCER PROGRESSION" EXACT [] synonym: "CANCER PROGRESSION AND TUMOR CELL MOTILITY" EXACT [] synonym: "Neoplasm Invasion" EXACT [] synonym: "TUMOR CELL MOTILITY" EXACT [] xref: MESH:D009361 is_a: DOID:9008192 ! Neoplastic Processes [Term] id: DOID:9004576 name: Sleep Initiation and Maintenance Disorders def: "Disorders characterized by impairment of the ability to initiate or maintain sleep. This may occur as a primary disorder or in association with another medical or psychiatric condition." [MESH:D007319] synonym: "Chronic Insomnia" EXACT [] synonym: "DIMS (Disorders of Initiating and Maintaining Sleep)" EXACT [] synonym: "Disorders of Initiating and Maintaining Sleep" EXACT [] synonym: "Early Awakening" EXACT [] synonym: "Insomnia" EXACT [] synonym: "Insomnia Disorder" EXACT [] synonym: "Insomnia Disorders" EXACT [] synonym: "Insomnias" EXACT [] synonym: "Nonorganic Insomnia" EXACT [] synonym: "Primary Insomnia" EXACT [] synonym: "Psychophysiological Insomnia" EXACT [] synonym: "Rebound Insomnia" EXACT [] synonym: "Secondary Insomnia" EXACT [] synonym: "Sleep Initiation Dysfunction" EXACT [] synonym: "Sleep Initiation Dysfunctions" EXACT [] synonym: "Sleeplessness" EXACT [] synonym: "Transient Insomnia" EXACT [] xref: EFO:0004698 xref: MESH:D007319 is_a: DOID:9000166 ! Intrinsic Sleep Disorders [Term] id: DOID:9004577 name: Stuve-Wiedemann Syndrome xref: MIM:PS601559 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia created_by: mtutaj creation_date: 2022-08-15T10:22:38Z [Term] id: DOID:9004578 name: Bowen Syndrome alt_id: MIM:211200 synonym: "Bowen syndrome of multiple malformations" EXACT [] xref: MESH:C538164 is_a: DOID:1686 ! glaucoma is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004579 name: Spastic Pseudosclerosis alt_id: MIM:270900 synonym: "Corticopallidodegeneration" EXACT [] synonym: "Disseminated Encephalomyelopathy" EXACT [] xref: MESH:C563024 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:936 ! brain disease [Term] id: DOID:9004580 name: Monteggia's Fracture def: "Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius." [MESH:D009011] synonym: "Monteggia Fracture" EXACT [] synonym: "Monteggias Fracture" EXACT [] xref: EFO:1001811 xref: MESH:D009011 is_a: DOID:9000012 ! Fracture Dislocation is_a: DOID:9001872 ! Ulna Fractures [Term] id: DOID:9004581 name: Pediatric Obesity def: "BODY MASS INDEX in children (ages 2-12) and in adolescents (ages 13-18) that is grossly above the recommended cut-off for a specific age and sex. For infants less than 2 years of age, obesity is determined based on standard weight-for-length percentile measures." [MESH:D063766] synonym: "Adolescent Obesity" EXACT [] synonym: "Childhood Obesity" EXACT [] synonym: "Childhood Onset Obesity" EXACT [] synonym: "Child Obesity" EXACT [] synonym: "Infantile Obesity" EXACT [] synonym: "Infant Obesity" EXACT [] synonym: "Obesity in Adolescence" EXACT [] synonym: "Obesity in Childhood" EXACT [] xref: MESH:D063766 is_a: DOID:9970 ! obesity [Term] id: DOID:9004582 name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 8, WITH OR WITHOUT HETEROTAXY def: "This is a disease characterized by cardiac septal defects, double-outlet right ventricle, unbalanced complete atrioventricular canal, and valvular anomalies, as well as vascular anomalies including dextroposition of the great arteries, anomalous pulmonary venous return, and superior vena cava to left atrium defect." [MIM:619657] synonym: "CHTD8" EXACT [] synonym: "multiple types of congenital heart defects-8 with or without heterotaxy" EXACT [] synonym: "SMAD2-RELATED CONDITION" BROAD [] xref: MIM:619657 is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types created_by: slaulede creation_date: 2022-02-03T17:58:54Z [Term] id: DOID:9004583 name: Ataxia Telangiectasia Like Disorder synonym: "ATLD" EXACT [] xref: MESH:C565779 xref: MIM:PS604391 is_a: DOID:12704 ! ataxia telangiectasia [Term] id: DOID:9004584 name: Myopia 28 def: "Early-onset high myopia in the first decade of life. Caused by homozygous or compound heterozygous mutation in the LOXL3 gene on chromosome 2p13." [MIM:619781] synonym: "myopia 28, autosomal recessive" EXACT [] synonym: "MYP28" EXACT [] xref: MIM:619781 is_a: DOID:11830 ! myopia created_by: mtutaj creation_date: 2022-03-08T11:21:48Z [Term] id: DOID:9004585 name: GLOBAL DEVELOPMENTAL DELAY WITH SPEECH AND BEHAVIORAL ABNORMALITIES def: "This is a disease characterized by developmental delay apparent from infancy or early childhood. Affected individuals have mildly delayed fine and motor skills with walking by 3 years of age, mildly impaired intellectual development, speech and language delay, and variable behavioral abnormalities, mostly autism and ADHD." [MIM:619243] synonym: "GDSBA" EXACT [] synonym: "TNRC6B-RELATED CONDITION" EXACT [] xref: MIM:619243 is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:92 ! speech disorder created_by: slaulede creation_date: 2021-05-13T12:29:46Z [Term] id: DOID:9004587 name: Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome 2 synonym: "follicular ichthyosis, atrichia, and photophobia syndrome 2" EXACT [] synonym: "follicular ichthyosis with atrichia and photophobia syndrome 2" EXACT [] synonym: "IFAP2" EXACT [] synonym: "IFAP syndrome 2" EXACT [] xref: MIM:619016 is_a: DOID:9002152 ! IFAP Syndrome created_by: mtutaj creation_date: 2020-09-14T13:12:34Z [Term] id: DOID:9004589 name: Adenophorea Infections def: "Infections with nematodes of the subclass ADENOPHOREA." [MESH:D017188] synonym: "Adenophorea Infection" EXACT [] synonym: "Aphasmidia Infection" EXACT [] synonym: "Aphasmidia Infections" EXACT [] xref: MESH:D017188 xref: RDO:0007035 is_a: DOID:9002992 ! Nematode Infections [Term] id: DOID:9004590 name: Acute Liver Failure alt_id: RDO:0000601 def: "A form of rapid-onset LIVER FAILURE, also known as fulminant hepatic failure, caused by severe liver injury or massive loss of HEPATOCYTES. It is characterized by sudden development of liver dysfunction and JAUNDICE. Acute liver failure may progress to exhibit cerebral dysfunction even HEPATIC COMA depending on the etiology that includes hepatic ISCHEMIA, drug toxicity, malignant infiltration, and viral hepatitis such as post-transfusion HEPATITIS B and HEPATITIS C." [MESH:D017114] synonym: "Acute Hepatic Failure" EXACT [] synonym: "acute liver injury" EXACT [] synonym: "Fulminant Hepatic Failure" EXACT [] synonym: "Fulminant Hepatic Failures" EXACT [] synonym: "Fulminant Liver Failure" EXACT [] synonym: "Fulminant Liver Failures" EXACT [] synonym: "Fulminating Hepatic Failure" EXACT [] synonym: "Fulminating Hepatic Failures" EXACT [] synonym: "Fulminating Liver Failure" EXACT [] synonym: "Fulminating Liver Failures" EXACT [] synonym: "Recurrent Acute Liver Failure" NARROW [] xref: MESH:D017114 is_a: DOID:9007874 ! Liver Failure [Term] id: DOID:9004591 name: Partington Anderson Syndrome alt_id: MIM:260555 xref: MESH:C536299 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9004592 name: Oocyte/Zygote/Embryo Maturation Arrest 13 def: "A disease characterized by female infertility due to recurrent preimplantation embryonic arrest. Caused by homozygous or compound heterozygous mutation in the ZFP36L2 gene on chromosome 2p21." [MIM:620154] synonym: "Oocyte Maturation Defect 13" EXACT [] synonym: "OOMD13" EXACT [] synonym: "OZEMA13" EXACT [] xref: MIM:620154 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2022-12-12T08:49:41Z [Term] id: DOID:9004593 name: Drug-Induced Immune Thrombocytopenia def: "The development of thrombocytopenia, as a result of the medicinal administration of a drug." [] synonym: "DIIT" EXACT [] synonym: "DITP" EXACT [] synonym: "Drug-induced ITP" EXACT [] synonym: "Drug-induced Thrombocytopenia" EXACT [] synonym: "Drug-induced thrombocytopenic purpura" EXACT [] xref: RDO:9000342 is_a: DOID:11126 ! acquired thrombocytopenia is_a: DOID:9005876 ! Thrombocytopenic Purpura created_by: rgd creation_date: 2016-06-10T00:00:00Z [Term] id: DOID:9004594 name: Jaw Neoplasms def: "Cancers or tumors of the MAXILLA or MANDIBLE unspecified. For neoplasms of the maxilla, MAXILLARY NEOPLASMS is available and of the mandible, MANDIBULAR NEOPLASMS is available." [] synonym: "jaw neoplasm" EXACT [] synonym: "neoplasm of jaw" EXACT [SNOMEDCT_2005_07_31:126634001] xref: MESH:D007573 is_a: DOID:9001331 ! Skull Neoplasms is_a: DOID:9003876 ! Jaw Diseases created_by: rgd creation_date: 2015-06-10T00:00:00Z [Term] id: DOID:9004595 name: Diastema def: "An abnormal opening or fissure between two adjacent teeth." [MESH:D003970] synonym: "Diastemas" EXACT [] synonym: "Diastemata" EXACT [] xref: MESH:D003970 xref: RDO:0001770 is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9004596 name: Infected Aneurysm def: "Aneurysm due to growth of microorganisms in the arterial wall, or infection arising within preexisting arteriosclerotic aneurysms." [MESH:D000785] synonym: "Bacterial Aneurysm" EXACT [] synonym: "Bacterial Aneurysms" EXACT [] synonym: "Fungal Aneurysm" EXACT [] synonym: "Fungal Aneurysms" EXACT [] synonym: "Infected Aneurysms" EXACT [] synonym: "Mycotic Aneurysm" EXACT [] synonym: "Mycotic Aneurysms" EXACT [] xref: MESH:D000785 is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:9004599 name: Microcephaly with Cervical Spine Fusion Anomalies alt_id: MIM:251250 synonym: "Microcephaly Cervical Spine Fusion Anomalies" EXACT [] synonym: "Microcephaly, mild mental retardation, short stature, and skeletal anomalies" EXACT [] xref: MESH:C537325 is_a: DOID:0060564 ! spinal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9004600 name: Cochlear Deafness with Myopia and Intellectual Impairment alt_id: RDO:0014228 xref: MESH:C565645 is_a: DOID:1059 ! intellectual disability is_a: DOID:11830 ! myopia is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9004601 name: Serratia Infections def: "Infections with bacteria of the genus SERRATIA." [MESH:D016868] synonym: "Serratia Infection" EXACT [] xref: EFO:1001421 xref: MESH:D016868 is_a: DOID:9003491 ! Enterobacteriaceae Infections [Term] id: DOID:9004602 name: Exsanguination def: "Rapid and extreme blood loss leading to HEMORRHAGIC SHOCK." [MESH:D058734] synonym: "Exsanguinating Hemorrhage" EXACT [] synonym: "Exsanguinating Hemorrhages" EXACT [] xref: MESH:D058734 is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9004603 name: Atkin Syndrome alt_id: MIM:300431 alt_id: RDO:0004138 synonym: "Atkin Flaitz Patil Smith syndrome" EXACT [] synonym: "Atkin-Flaitz syndrome" EXACT [] synonym: "X-linked mental retardation, Atkin type" EXACT [] synonym: "X-linked mental retardation, nonspecific" EXACT [] synonym: "X-linked mental retardation, nonspecific, type 1" EXACT [] synonym: "X-linked mental retardation syndrome, Atkin type" EXACT [] xref: MESH:C538195 is_a: DOID:225 ! syndrome is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9004604 name: Autoinflammation with Episodic Fever and Lymphadenopathy def: "An autosomal dominant immunologic disorder characterized by onset of recurrent episodes of unexplained fever beginning in early infancy. The episodes occur in a cyclic pattern with a frequency of every week or every few weeks and a duration of several days. Patients have accompanying lymphadenopathy and patient serum shows increased levels of inflammatory cytokines and chemokines, consistent with abnormal activation of the innate inflammatory system." [MIM:618852] synonym: "AIEFL" EXACT [] synonym: "CLEAVAGE-RESISTANT RIPK1-INDUCED AUTOINFLAMMATORY SYNDROME CRIA SYNDROME" EXACT [] synonym: "RIPK1-RELATED CONDITION" BROAD [] xref: EFO:0010737 xref: MIM:618852 is_a: DOID:9000972 ! Fever is_a: DOID:9004150 ! Lymphadenopathy is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: slaulede creation_date: 2020-07-06T13:35:27Z [Term] id: DOID:9004605 name: Digital Dermatitis def: "Highly contagious infectious dermatitis with lesions near the interdigital spaces usually in cattle. It causes discomfort and often severe lameness (LAMENESS, ANIMAL). Lesions can be either erosive or proliferative and wart-like with papillary growths and hypertrophied hairs. DICHELOBACTER NODOSUS and TREPONEMA are the most commonly associated causative agents for this mixed bacterial infection disease." [MESH:D058066] synonym: "Bovine Digital Dermatitides" EXACT [] synonym: "Bovine Digital Dermatitis" EXACT [] synonym: "Bovine Foot Wart" EXACT [] synonym: "Bovine Foot Warts" EXACT [] synonym: "Bovine Hairy Footwart" EXACT [] synonym: "Bovine Hairy Footwarts" EXACT [] synonym: "Digital Dermatitides" EXACT [] synonym: "Digital Papillomatoses" EXACT [] synonym: "Digital Papillomatosis" EXACT [] synonym: "Ovine Digital Dermatitides" EXACT [] synonym: "Ovine Digital Dermatitis" EXACT [] synonym: "Papillomatous Digital Dermatitides" EXACT [] synonym: "Papillomatous Digital Dermatitis" EXACT [] xref: MESH:D058066 is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9004606 name: Kuzniecky Andermann Syndrome synonym: "macrogyria, pseudobulbar palsy and mental retardation" EXACT [] xref: MESH:C537722 is_a: DOID:1059 ! intellectual disability is_a: DOID:12680 ! pseudobulbar palsy is_a: DOID:225 ! syndrome is_a: DOID:936 ! brain disease [Term] id: DOID:9004607 name: Diaphragmatic Hernia 2 alt_id: MIM:222400 synonym: "DIH2" EXACT [] synonym: "Hernia, congenital diaphragmatic 2" EXACT [] xref: MESH:C565629 is_a: DOID:3827 ! congenital diaphragmatic hernia [Term] id: DOID:9004608 name: Tendon Entrapment alt_id: RDO:0007597 def: "Narrowing or stenosis of a tendon's retinacular sheath. It occurs most often in the hand or wrist but can also be found in the foot or ankle. The most common types are DE QUERVAIN DISEASE and TRIGGER FINGER DISORDER." [MESH:D053682] synonym: "Stenosing Tendovaginitides" EXACT [] synonym: "Stenosing Tendovaginitis" EXACT [] synonym: "Stenosing Tenosynovitides" EXACT [] synonym: "Stenosing Tenosynovitis" EXACT [] synonym: "Stenosing Tenovaginitides" EXACT [] synonym: "Stenosing Tenovaginitis" EXACT [] synonym: "Tendon Entrapments" EXACT [] xref: EFO:0010822 xref: MESH:D053682 is_a: DOID:971 ! tendinitis [Term] id: DOID:9004609 name: Hereditary Spinal Ataxia xref: MESH:C531684 is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:9004610 name: Acute Lung Injury def: "A condition of lung damage that is characterized by bilateral pulmonary infiltrates (PULMONARY EDEMA) rich in NEUTROPHILS, and in the absence of clinical HEART FAILURE. This can represent a spectrum of pulmonary lesions, endothelial and epithelial, due to numerous factors (physical, chemical, or biological)." [MESH:D055371] synonym: "Acute Lung Injuries" EXACT [] xref: EFO:0004610 xref: MESH:D055371 xref: RDO:0007706 is_a: DOID:9000310 ! Lung Injury [Term] id: DOID:9004611 name: Pathologic Processes def: "The abnormal mechanisms and forms involved in the dysfunctions of tissues and organs." [MESH:D010335] synonym: "Pathological Processes" EXACT [] xref: MESH:D010335 is_a: DOID:9000298 ! Pathological Conditions, Signs and Symptoms [Term] id: DOID:9004612 name: N-Acetylaspartate Deficiency synonym: "HYPOACETYLASPARTIA" EXACT [] synonym: "NAA DEFICIENCY" EXACT [] synonym: "NACED" EXACT [] xref: MIM:614063 xref: RDO:9000677 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9004613 name: Squamous Odontogenic Tumor def: "A well-differentiated, benign, hamartomatous proliferation of odontogenic epithelium, probably arising from the rests of Malassez." [MESH:D051527] synonym: "Squamous Odontogenic Tumors" EXACT [] xref: EFO:1001848 xref: MESH:D051527 is_a: DOID:9006134 ! Odontogenic Tumors [Term] id: DOID:9004614 name: Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type alt_id: MIM:601375 xref: MESH:C536180 is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9004615 name: Metachromatic Leukodystrophy due to Saposin B Deficiency alt_id: MIM:249900 synonym: "Metachromatic Leukodystrophy due to Cerebroside Sulfatase Activator Deficiency" EXACT [] synonym: "MLDSAPB" EXACT [] synonym: "Saposin B Deficiency" EXACT [] xref: MESH:C562609 is_a: DOID:10581 ! metachromatic leukodystrophy [Term] id: DOID:9004616 name: Left Ventricular Hypertrophy alt_id: RDO:0007042 def: "Enlargement of the LEFT VENTRICLE of the heart. This increase in ventricular mass is attributed to sustained abnormal pressure or volume loads and is a contributor to cardiovascular morbidity and mortality." [MESH:D017379] synonym: "Increased Left Ventricular Wall Thickness" EXACT [] synonym: "Left Ventricular Hypertrophies" EXACT [] xref: EFO:0003896 xref: MESH:D017379 is_a: DOID:9003936 ! Cardiomegaly [Term] id: DOID:9004617 name: Taurodontism, Microdontia, and Dens Invaginatus alt_id: MIM:313490 synonym: "KIF4A-RELATED CONDITION" BROAD [] synonym: "TMDI" EXACT [] xref: MESH:C536947 is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9003098 ! Taurodontism is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9004618 name: Gallbladder Disease 1 alt_id: DOID:1949 synonym: "CHOLELITHIASIS, LOW PHOSPHOLIPID-ASSOCIATED" EXACT [] synonym: "GBD1" EXACT [] synonym: "LPAC" EXACT [] xref: MIM:600803 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:9006113 ! Gallstones [Term] id: DOID:9004619 name: Pacman Dysplasia alt_id: MIM:167220 synonym: "Epiphyseal stippling with osteoclastic hyperplasia" EXACT [] synonym: "Pacman syndrome" EXACT [] xref: MESH:C538095 is_a: DOID:2581 ! chondrodysplasia punctata [Term] id: DOID:9004620 name: Zenker Diverticulum def: "A DIVERTICULUM at the upper end of the ESOPHAGUS through the cricopharyngeal muscle at the junction of the PHARYNX and the esophagus." [MESH:D016672] synonym: "Esophago Pharyngeal Diverticula" EXACT [] synonym: "Esophago Pharyngeal Diverticulum" EXACT [] synonym: "Esophagopharyngeal Diverticulum" EXACT [] synonym: "Esophagopharyngeal Diverticulums" EXACT [] synonym: "Pharyngeal Diverticula" EXACT [] synonym: "Pharyngeal Diverticulum" EXACT [] synonym: "Pharyngo Esophageal Diverticula" EXACT [] synonym: "Pharyngoesophageal Diverticula" EXACT [] synonym: "Pharyngo Esophageal Diverticulum" EXACT [] synonym: "Pharyngoesophageal Diverticulum" EXACT [] synonym: "Pharyngoesophageal Pulsion Diverticula" EXACT [] synonym: "Pharyngoesophageal Pulsion Diverticulum" EXACT [] synonym: "Zenker's Diverticula" EXACT [] synonym: "Zenker's Diverticulum" EXACT [] synonym: "Zenker Diverticula" EXACT [] synonym: "Zenkers Diverticula" EXACT [] synonym: "Zenkers Diverticulum" EXACT [] xref: EFO:1001867 xref: MESH:D016672 is_a: DOID:9004686 ! Esophageal Diverticulum [Term] id: DOID:9004622 name: Symmastia synonym: "Medial confluence of the breasts" EXACT [] xref: MESH:C538147 is_a: DOID:3463 ! breast disease [Term] id: DOID:9004623 name: Tooth Abrasion def: "The pathologic wearing away of the tooth substance by brushing, bruxism, clenching, and other mechanical causes. It is differentiated from TOOTH ATTRITION in that this type of wearing away is the result of tooth-to-tooth contact, as in mastication, occurring only on the occlusal, incisal, and proximal surfaces. It differs also from TOOTH EROSION, the progressive loss of the hard substance of a tooth by chemical processes not involving bacterial action. (From Jablonski, Dictionary of Dentistry, 1992, p2)" [MESH:D014072] synonym: "Dental Abrasion" EXACT [] xref: MESH:D014072 is_a: DOID:9004104 ! Tooth Wear [Term] id: DOID:9004624 name: Shoulder Fractures def: "Fractures of the proximal humerus, including the head, anatomic and surgical necks, and tuberosities." [MESH:D012784] synonym: "Greater Tuberosity Fracture" EXACT [] synonym: "Greater Tuberosity Fractures" EXACT [] synonym: "Proximal Humeral Fracture" EXACT [] synonym: "Proximal Humeral Fractures" EXACT [] synonym: "Shoulder Fracture" EXACT [] xref: EFO:0009621 xref: MESH:D012784 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9004155 ! Shoulder Injuries [Term] id: DOID:9004625 name: Malacoplakia def: "The formation of soft patches on the mucous membrane of a hollow organ, such as the urogenital tract or digestive tract." [MESH:D008287] synonym: "Malacoplakias" EXACT [] synonym: "Malakoplakia" EXACT [] synonym: "Malakoplakias" EXACT [] xref: EFO:1001807 xref: MESH:D008287 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9004626 name: Ocular Paraneoplastic Syndromes alt_id: RDO:0010022 def: "Ocular manifestations secondary to various NEOPLASMS in which antibodies to antigens of the primary tumor cross-react with ocular antigens. This autoimmune response often leads to visual loss and other ocular dysfunctions." [MESH:D059545] synonym: "Bilateral Diffuse Uveal Melanocytic Proliferation, Paraneoplastic" EXACT [] synonym: "Cancer-Associated Retinopathies" EXACT [] synonym: "Cancer Associated Retinopathy" EXACT [] synonym: "Melanoma-Associated Retinopathies" EXACT [] synonym: "Melanoma Associated Retinopathy" EXACT [] synonym: "Ocular Paraneoplastic Disease" EXACT [] synonym: "Ocular Paraneoplastic Diseases" EXACT [] synonym: "Ocular Paraneoplastic Syndrome" EXACT [] synonym: "Paraneoplastic Melanocytic Proliferation" EXACT [] synonym: "Paraneoplastic Melanocytic Proliferations" EXACT [] xref: MESH:D059545 is_a: DOID:9004059 ! Eye Neoplasms is_a: DOID:9007199 ! Paraneoplastic Syndromes [Term] id: DOID:9004627 name: Limbal Stem Cell Deficiency def: "Loss or disturbance of limbal STEM CELL function in the CORNEAL LIMBUS resulting in inability to self-renew CORNEAL EPITHELIUM and conjunctivalized corneal surface." [] xref: MESH:D000092423 is_a: DOID:10124 ! corneal disease created_by: mtutaj creation_date: 2022-12-12T14:47:49Z [Term] id: DOID:9004628 name: Ohdo Syndrome, X-Linked synonym: "blepharophimosis-mental retardation syndrome, Maat-Kievit-Brunner type" EXACT [] synonym: "OHDOX" EXACT [] xref: MIM:300895 is_a: DOID:0060289 ! Ohdo syndrome [Term] id: DOID:9004629 name: Gingival Fibromatosis 4 alt_id: MIM:611010 synonym: "Fibromatosis, Gingival, Hereditary, 4" EXACT [] synonym: "GGF4" EXACT [] synonym: "GINGF4" EXACT [] synonym: "HGF4" EXACT [] xref: MESH:C567028 is_a: DOID:0060466 ! gingival fibromatosis [Term] id: DOID:9004630 name: Cataract, Zonular Central Nuclear xref: MESH:C565135 is_a: DOID:83 ! cataract [Term] id: DOID:9004631 name: Cataract, Progressive Polymorphic Cortical xref: MESH:C565130 is_a: DOID:83 ! cataract [Term] id: DOID:9004632 name: Hereditary Hemorrhagic Telangiectasia, Type 3 alt_id: MIM:601101 synonym: "HHT3" EXACT [] synonym: "Osler-Rendu-Weber Syndrome 3" EXACT [] xref: MESH:C537140 is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia [Term] id: DOID:9004633 name: Autosomal Recessive Osteopetrosis 9 def: "A disease characterized by increased bone density and bone fragility, as well as renal failure. Caused by compound heterozygous mutation in the SLC4A2 gene on chromosome 7q36." [MIM:620366] synonym: "OPTB9" EXACT [] synonym: "osteopetrosis, Ikegawa type" EXACT [] xref: MIM:620366 is_a: DOID:13533 ! osteopetrosis created_by: mtutaj creation_date: 2023-05-10T09:45:58Z [Term] id: DOID:9004634 name: Cardiac Output, Low def: "A state of subnormal or depressed cardiac output at rest or during stress. It is a characteristic of CARDIOVASCULAR DISEASES, including congenital, valvular, rheumatic, hypertensive, coronary, and cardiomyopathic. The serious form of low cardiac output is characterized by marked reduction in STROKE VOLUME, and systemic vasoconstriction resulting in cold, pale, and sometimes cyanotic extremities." [MESH:D002303] synonym: "Low Cardiac Output Syndrome" EXACT [] xref: MESH:D002303 is_a: DOID:114 ! heart disease is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9004635 name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT EARLY-ONSET GENERALIZED EPILEPSY def: "A disease characterized by global developmental delay apparent from infancy or early childhood. Affected individuals have variably impaired intellectual development, speech delay, and behavioral abnormalities. Brain imaging is essentially normal and there are no significant accompanying neurologic or systemic abnormalities." [MIM:619157] synonym: "NBEA-RELATED COMPLEX NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "NBEA-RELATED CONDITION" EXACT [] synonym: "NBEA-RELATED DEVELOPMENTAL DELAY AND GENERALIZED EPILEPSY" NARROW [] synonym: "NEDEGE" EXACT [] xref: MIM:619157 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2021-02-16T09:40:03Z [Term] id: DOID:9004636 name: Specific Language Impairment 5 synonym: "SLI5" EXACT [] xref: MIM:615432 is_a: DOID:0060244 ! specific language impairment [Term] id: DOID:9004637 name: Autosomal Recessive Intellectual Developmental Disorder 79 def: "Autosomal recessive intellectual developmental disorder characterized by global developmental delay apparent from infancy, caused by compound heterozygous mutation in the TPR gene on chromosome 1q25. Affected individuals have mildly delayed walking with an ataxic gait and severely impaired intellectual development with poor or absent speech." [MIM:620393] synonym: "MRT79" EXACT [] xref: MIM:620393 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: mtutaj creation_date: 2023-05-30T16:02:41Z [Term] id: DOID:9004638 name: Classical Swine Fever def: "An acute, highly contagious disease affecting swine of all ages and caused by the CLASSICAL SWINE FEVER VIRUS. It has a sudden onset with high morbidity and mortality." [MESH:D006691] synonym: "Hog Cholera" EXACT [] synonym: "Swine Fever" EXACT [] xref: MESH:D006691 xref: RDO:0005813 is_a: DOID:9008435 ! Swine Diseases is_a: DOID:9008833 ! Pestivirus Infections [Term] id: DOID:9004640 name: Kennerknecht Sorgo Oberhoffer Syndrome alt_id: MIM:202660 synonym: "agonadism, dextrocardia, diaphragmatic hernia" EXACT [] synonym: "agonadism with multiple internal malformations" EXACT [] synonym: "PAGOD syndrome" EXACT [] synonym: "pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome" EXACT [] synonym: "pulmonary hypoplasia, hypoplasia of the pulmonary artery, agonadism, omphalocele-diaphragmatic defect, and dextrocardia" EXACT [] xref: MESH:C537018 is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:225 ! syndrome is_a: DOID:3827 ! congenital diaphragmatic hernia is_a: DOID:9565 ! dextrocardia [Term] id: DOID:9004641 name: Oculodentodigital Dysplasia, Autosomal Recessive alt_id: MESH:C537733 alt_id: MIM:257850 synonym: "oculodentodigital dysplasia, autosomal recessive" EXACT [] synonym: "oculodentoosseous dysplasia, autosomal recessive" EXACT [] synonym: "oculodentoosseous dysplasia, recessive" EXACT [] synonym: "ODDD, autosomal recessive" EXACT [] synonym: "ODOD, autosomal recessive" EXACT [] xref: MESH:C567605 is_a: DOID:0060291 ! oculodentodigital dysplasia is_a: DOID:10629 ! microphthalmia is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:9008797 ! Facial Asymmetry [Term] id: DOID:9004642 name: Camptomelic Syndrome Long Limb Type alt_id: MIM:211990 synonym: "Campomelic syndrome long limb type" EXACT [] xref: MESH:C537977 is_a: DOID:0050463 ! campomelic dysplasia [Term] id: DOID:9004643 name: Urologic Neoplasms def: "Tumors or cancer of the URINARY TRACT in either the male or the female." [MESH:D014571] synonym: "neoplasm of urinary system" EXACT [] synonym: "tumor of the urinary system" EXACT [] synonym: "tumor of urinary tract" EXACT [] synonym: "urinary tract neoplasm" EXACT [] synonym: "Urinary Tract Neoplasms" EXACT [] synonym: "Urological Neoplasm" EXACT [] synonym: "Urological Neoplasms" EXACT [] synonym: "urologic neoplasm" EXACT [] xref: MESH:D014571 xref: NCI:C25806 is_a: DOID:9007150 ! Urogenital Neoplasms [Term] id: DOID:9004644 name: Avitaminosis def: "A condition due to a deficiency of one or more essential vitamins. (Dorland, 27th ed)" [MESH:D001361] synonym: "Avitaminoses" EXACT [] synonym: "Vitamin Deficiencies" EXACT [] synonym: "Vitamin Deficiency" EXACT [] xref: EFO:0005878 xref: MESH:D001361 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:9004645 name: Familial Juvenile Hyperuricemic Nephropathy 3 synonym: "Familial juvenile hyperuricemia nephropathy-3" EXACT [] synonym: "HNFJ3" EXACT [] synonym: "HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE TYPE 3" EXACT [] xref: MIM:614227 is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy [Term] id: DOID:9004646 name: Joint Deformities, Acquired def: "Deformities acquired after birth as the result of injury or disease. The joint deformity is often associated with rheumatoid arthritis and leprosy." [MESH:D016916] synonym: "Acquired Joint Deformity" EXACT [] xref: MESH:D016916 xref: RDO:0007011 is_a: DOID:381 ! arthropathy [Term] id: DOID:9004647 name: Tauopathy and Respiratory Failure xref: MESH:C563580 is_a: DOID:11162 ! respiratory failure is_a: DOID:678 ! progressive supranuclear palsy [Term] id: DOID:9004648 name: Chromosome 6 Ring Syndrome synonym: "Ring 6, Chromosome" EXACT [] xref: MESH:C537763 xref: MONDO:0015440 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9004649 name: Heat Stroke def: "A condition caused by the failure of body to dissipate heat in an excessively hot environment or during PHYSICAL EXERTION in a hot environment. Contrast to HEAT EXHAUSTION, the body temperature in heat stroke patient is dangerously high with red, hot skin accompanied by DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly." [MESH:D018883] synonym: "Heatstroke" EXACT [] synonym: "Heat Strokes" EXACT [] synonym: "Heatstrokes" EXACT [] xref: EFO:1001340 xref: MESH:D018883 is_a: DOID:9001103 ! Heat Stress Disorders [Term] id: DOID:9004650 name: Mandibular Injuries def: "Injuries to the lower jaw bone." [MESH:D008338] synonym: "Mandibular Injury" EXACT [] xref: MESH:D008338 xref: RDO:0006062 is_a: DOID:9004460 ! Maxillofacial Injuries [Term] id: DOID:9004651 name: Parana Hard Skin Syndrome alt_id: MIM:260530 xref: MESH:C564905 is_a: DOID:225 ! syndrome is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9004652 name: Megalocytic Interstitial Nephritis synonym: "Transplant megalocytic interstitial nephritis (type)" EXACT [] xref: MESH:C536144 xref: RDO:0001599 is_a: DOID:1063 ! interstitial nephritis [Term] id: DOID:9004653 name: Hadziselimovic Syndrome alt_id: MIM:612946 synonym: "Microcephaly-Faciocardioskeletal Syndrome" EXACT [] xref: MESH:C567850 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9004654 name: Immune Deficiency Disease xref: MESH:C565469 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9004655 name: Pulmonary Echinococcosis alt_id: RDO:0005431 def: "Helminth infection of the lung caused by Echinococcus granulosus or Echinococcus multilocularis." [MESH:D004445] synonym: "pulmonary echinococcoses" EXACT [] synonym: "Pulmonary Hydatid Cyst" EXACT [] synonym: "Pulmonary Hydatid Cysts" EXACT [] synonym: "Pulmonary Hydatidoses" EXACT [] synonym: "pulmonary hydatidosis" EXACT [] xref: MESH:D004445 is_a: DOID:1496 ! echinococcosis is_a: DOID:9003947 ! Parasitic Lung Diseases [Term] id: DOID:9004656 name: Airway Remodeling def: "The structural changes in the number, mass, size and/or composition of the airway tissues." [MESH:D056151] synonym: "Airway Remodelings" EXACT [] synonym: "Airway Remodelling" EXACT [] synonym: "Airway Remodellings" EXACT [] synonym: "Airway Wall Remodelling" EXACT [] synonym: "Airway Wall Remodellings" EXACT [] synonym: "Asthmatic Airway Remodeling" EXACT [] synonym: "Asthmatic Airway Remodelings" EXACT [] synonym: "Asthmatic Airway Remodelling" EXACT [] synonym: "Asthmatic Airway Remodellings" EXACT [] synonym: "Asthmatic Airway Wall Remodeling" EXACT [] synonym: "Asthmatic Airway Wall Remodelling" EXACT [] synonym: "Small Airway Remodeling" EXACT [] synonym: "Small Airway Remodelings" EXACT [] synonym: "Small Airway Remodelling" EXACT [] synonym: "Small Airway Remodellings" EXACT [] xref: MESH:D056151 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9004657 name: Weight Gain def: "Increase in BODY WEIGHT over existing weight." [MESH:D015430] synonym: "Weight Gains" EXACT [] xref: MESH:D015430 is_a: DOID:9003287 ! Body Weight Changes [Term] id: DOID:9004658 name: Rod-Cone Dystrophy, Sensorineural Deafness, and Fanconi-Type Renal Dysfunction alt_id: MIM:268315 synonym: "RCDFRD" EXACT [] xref: MESH:C564829 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1062 ! Fanconi syndrome [Term] id: DOID:9004659 name: Respiration Disorders def: "Diseases of the respiratory system in general or unspecified or for a specific respiratory disease not available." [MESH:D012120] synonym: "Respiration Disorder" EXACT [] xref: MESH:D012120 is_a: DOID:1579 ! respiratory system disease [Term] id: DOID:9004660 name: Cerebrospinal Fluid Otorrhea def: "Discharge of cerebrospinal fluid through the external auditory meatus or through the eustachian tube into the nasopharynx. This is usually associated with CRANIOCEREBRAL TRAUMA (e.g., SKULL FRACTURE involving the TEMPORAL BONE;), NEUROSURGICAL PROCEDURES; or other conditions, but may rarely occur spontaneously. (From Am J Otol 1995 Nov;16(6):765-71)" [MESH:D002558] synonym: "Cerebrospinal Fluid Otorrheas" EXACT [] synonym: "Cerebrospinal Otorrhea" EXACT [] synonym: "Post Traumatic Cerebrospinal Fluid Otorrhea" EXACT [] synonym: "Spontaneous Cerebrospinal Fluid Otorrhea" EXACT [] synonym: "Traumatic Cerebrospinal Fluid Otorrhea" EXACT [] xref: EFO:1001775 xref: MESH:D002558 xref: RDO:0005170 is_a: DOID:9002965 ! Cerebrospinal Fluid Leak [Term] id: DOID:9004661 name: Levator Syndrome synonym: "Levator ani spasm syndrome" EXACT [] synonym: "Levator ani syndrome" EXACT [] xref: MESH:C535890 is_a: DOID:225 ! syndrome is_a: DOID:3128 ! anus disease is_a: DOID:9000641 ! Pain [Term] id: DOID:9004662 name: Autosomal Recessive Syndrome of Syndactyly, Undescended Testes and Central Nervous System Defects xref: RDO:9000703 is_a: DOID:11193 ! syndactyly is_a: DOID:11383 ! cryptorchidism is_a: DOID:331 ! central nervous system disease [Term] id: DOID:9004663 name: Intestinal Ischemia def: "A hypoperfusion of the blood through the intestine caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation." [] synonym: "intestine ischemia" EXACT [] is_a: DOID:326 ! ischemia is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9004664 name: Viral Hemorrhagic Septicemia def: "A systemic infection of various salmonid and a few nonsalmonid fishes caused by Viral hemorrhagic septicemia virus (see NOVIRHABDOVIRUS)," [MESH:D031941] synonym: "Viral Haemorrhagic Septicaemia" EXACT [] xref: EFO:0007539 xref: MESH:D031941 is_a: DOID:9000354 ! Fish Diseases is_a: DOID:9008603 ! Rhabdoviridae Infections is_a: DOID:9008707 ! Viremia [Term] id: DOID:9004665 name: Pectus Carinatum def: "A developmental anomaly characterized by abnormal anterior protrusion of the STERNUM and adjacent COSTAL CARTILAGE." [MESH:D066166] synonym: "Arcuate Pectus Carinatum" EXACT [] synonym: "Arcuate Pectus Carinatums" EXACT [] synonym: "Chondrogladiolar Pectus Carinatum" EXACT [] synonym: "Chondrogladiolar Pectus Carinatums" EXACT [] synonym: "Chondromanubrial Pectus Carinatum" EXACT [] synonym: "Chondromanubrial Pectus Carinatums" EXACT [] synonym: "Currarino Silverman Syndrome" EXACT [] synonym: "Pectus Carinatums" EXACT [] synonym: "Pouter Pigeon Breast" EXACT [] synonym: "Pouter Pigeon Breasts" EXACT [] xref: MESH:D066166 is_a: DOID:0080006 ! bone development disease is_a: DOID:1222 ! cartilage disease is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9004666 name: Major Affective Disorder 4 alt_id: MIM:611247 alt_id: RDO:0015250 synonym: "MAFD4" EXACT [] xref: MESH:C567073 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:9004667 name: Malformations of Cortical Development, Group II def: "Cortical malformations secondary to abnormal neuronal CELL MIGRATION in NEUROGENESIS. This group includes COBBLESTONE LISSENCEPHALY and PERIVENTRICULAR NODULAR HETEROTOPIA." [MESH:D054081] synonym: "Cortical Malformations, Group II" EXACT [] synonym: "Malformations Due to Abnormal Neuronal Migration" EXACT [] synonym: "Malformations Secondary to Abnormal Neuronal Migration" EXACT [] synonym: "Neuronal Migration Disorder" EXACT [] synonym: "Neuronal Migration Disorders" EXACT [] xref: MESH:D054081 xref: RDO:0007654 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:9004668 name: Varicella Zoster infection def: "This is a highly contagious viral infection caused by the varicella zoster virus. Clinically, it may be manifested as shingles or chicken pox." [NCI:C96407] synonym: "Varicella-Zoster Virus Infection" EXACT [] xref: EFO:0006509 is_a: DOID:9002834 ! Herpesviridae Infections created_by: slaulede creation_date: 2023-02-24T15:59:03Z [Term] id: DOID:9004669 name: Paroxysmal Tachycardia def: "Abnormally rapid heartbeats with sudden onset and cessation." [MESH:D013614] synonym: "Paroxysmal Reciprocal Tachycardia" EXACT [] synonym: "paroxysmal reciprocal tachycardias" EXACT [] synonym: "paroxysmal tachycardias" EXACT [] xref: EFO:0009493 xref: MESH:D013614 is_a: DOID:9002554 ! Tachycardia [Term] id: DOID:9004670 name: Weyers Ulnar Ray/Oligodactyly Syndrome alt_id: MIM:602418 xref: MESH:C536696 is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004671 name: Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome synonym: "Mende Syndrome" EXACT [] synonym: "Ptosis-Epicanthus Syndrome" EXACT [] xref: MESH:C538657 is_a: DOID:225 ! syndrome is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:9004672 name: Neurocutaneous Melanosis alt_id: MIM:249400 synonym: "NCMS" EXACT [] synonym: "Neurocutaneous melanosis syndrome" EXACT [] synonym: "NEUROMELANOSIS" EXACT [] xref: MESH:C537387 xref: RDO:0003225 is_a: DOID:9001583 ! Melanosis is_a: DOID:9001734 ! Neurocutaneous Syndromes [Term] id: DOID:9004673 name: Hearing Loss, Cisplatin-Induced alt_id: RDO:0009807 alt_id: RDO:9000044 def: "Hearing loss due to the toxic effects of the anti-cancer drug cisplatin upon the auditory hair cells of the cochlea." [] synonym: "CIHL" EXACT [] synonym: "cisplatin-induced ototoxicity" EXACT [] synonym: "Hearing Loss, Cisplatin-Induced, Susceptibility To" RELATED [] xref: MIM:613290 is_a: DOID:0070310 ! drug-induced hearing loss is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:9004675 name: Short Stature, Facial Dysmorphism, and Skeletal Anomalies with or without Cardiac Anomalies synonym: "SSFSC" EXACT [] xref: MIM:PS617877 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2021-02-16T15:54:53Z [Term] id: DOID:9004676 name: Premature Infant Diseases alt_id: RDO:0001787 def: "Diseases that occur in PREMATURE INFANTS." [MESH:D007235] xref: MESH:D007235 is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9004678 name: Staghorn Calculi def: "Renal calculi with a characteristic shape like antlers of a deer, formed as it extends into multiple calices of the RENAL PELVIS. A large number of staghorn calculi as well as other URINARY CALCULI are composed of STRUVITE." [MESH:D000069856] synonym: "Staghorn Calculus" EXACT [] xref: MESH:D000069856 is_a: DOID:9002315 ! Kidney Calculi [Term] id: DOID:9004679 name: Mental Retardation, X-Linked, Syndromic, Ube2a-Related xref: MESH:C564069 xref: RDO:0013153 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:9004680 name: perianal Crohn's disease def: "This disease is a Crohn disease involving a pathogenic inflammatory response in the anal canal." [EFO:0005627] synonym: "perianal Crohn disease" EXACT [] xref: EFO:0005627 is_a: DOID:8778 ! Crohn's disease created_by: slaulede creation_date: 2023-02-20T18:07:02Z [Term] id: DOID:9004681 name: Abdominal Hernia def: "A protrusion of abdominal structures through the retaining ABDOMINAL WALL. It involves two parts: an opening in the abdominal wall, and a hernia sac consisting of PERITONEUM and abdominal contents. Abdominal hernias include groin hernia (HERNIA, FEMORAL; HERNIA, INGUINAL) and VENTRAL HERNIA." [MESH:D046449] synonym: "Abdominal Hernias" EXACT [] xref: MESH:D046449 is_a: DOID:1283 ! enterocele [Term] id: DOID:9004682 name: Hereditary Painful Callosities alt_id: MIM:114140 synonym: "painful plantar callosities" EXACT [] xref: MESH:C566180 is_a: DOID:9000353 ! Callosities [Term] id: DOID:9004683 name: Enoplida Infections def: "Infections with nematodes of the order ENOPLIDA." [MESH:D017189] synonym: "Dioctophyma renale Infection" EXACT [] synonym: "Dioctophyma renale Infections" EXACT [] synonym: "Enoplea infectious disease" EXACT [] synonym: "Enoplida Infection" EXACT [] xref: EFO:0007253 xref: MESH:D017189 xref: RDO:0006740 is_a: DOID:9004589 ! Adenophorea Infections [Term] id: DOID:9004684 name: Monosomy def: "The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1." [MESH:D009006] synonym: "Monosomies" EXACT [] xref: MESH:D009006 is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9004685 name: Chromosome 4, 4q Terminal Deletion Syndrome synonym: "Chromosome 4, Deletion 4q31-qter Syndrome" EXACT [] synonym: "Chromosome 4, Deletion 4q32-qter Syndrome" EXACT [] synonym: "Chromosome 4, Deletion 4q33-qter Syndrome" EXACT [] synonym: "Chromosome 4, monosomy distal 4q" EXACT [] synonym: "Chromosome 4, Partial Monosomy of Distal 4q" EXACT [] xref: MESH:C537641 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9004686 name: Esophageal Diverticulum def: "Saccular protrusion beyond the wall of the ESOPHAGUS." [MESH:D004936] synonym: "Esophageal Diverticula" EXACT [] xref: MESH:D004936 is_a: DOID:9001008 ! Diverticulum [Term] id: DOID:9004687 name: Pulmonary Vein Stenosis def: "Narrowing of the PULMONARY VEIN." [MESH:D000071078] synonym: "Pulmonary Vein Stenoses" EXACT [] xref: MESH:D000071078 is_a: DOID:178 ! vascular disease [Term] id: DOID:9004688 name: Morning Sickness def: "Symptoms of NAUSEA and VOMITING in pregnant women that usually occur in the morning during the first 2 to 3 months of PREGNANCY. Severe persistent vomiting during pregnancy is called HYPEREMESIS GRAVIDARUM." [MESH:D048968] xref: MESH:D048968 is_a: DOID:9004702 ! Pregnancy Complications is_a: DOID:9008385 ! Vomiting [Term] id: DOID:9004689 name: Multiple Epiphyseal Dysplasia with Myopathy alt_id: RDO:0012680 xref: MESH:C563420 is_a: DOID:12721 ! multiple epiphyseal dysplasia is_a: DOID:423 ! myopathy [Term] id: DOID:9004691 name: Radiation-Induced Brain Neoplasms def: "Brain tumors, cancer or neoplasms produced by exposure to ionizing or non-ionizing radiation." [] synonym: "irradiation-associated brain tumor" EXACT [] synonym: "irradiation-induced secondary brain tumor" NARROW [] is_a: DOID:9000277 ! Radiation-Induced Neoplasms is_a: DOID:9004550 ! Iatrogenic Disease is_a: DOID:9007502 ! Brain Neoplasms created_by: rgd creation_date: 2015-08-28T00:00:00Z [Term] id: DOID:9004692 name: Fused Teeth alt_id: MIM:147251 alt_id: MIM:273000 def: "Two teeth united during development by the union of their tooth germs; the teeth may be joined by the enamel of their crowns, by their root dentin, or by both." [MESH:D005671] synonym: "Double Tooth" EXACT [] synonym: "Fused Mandibular Incisor" EXACT [] synonym: "Fused Mandibular Incisors" EXACT [] xref: MESH:D005671 is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9004693 name: ductal breast hyperplasia def: "This is hyperplasia of the epithelial cells in the breast ducts. It includes the atypical ductal hyperplasia, papillary intraductal hyperplasia, intraductal myoepitheliosis, and ductal hyperplasia of the usual type." [EFO:0008500] synonym: "ductal hyperplasia" EXACT [] synonym: "Usual Ductal Breast Hyperplasia" NARROW [] xref: EFO:0008500 xref: EFO:1000612 is_a: DOID:6839 ! breast intraductal proliferative lesion is_a: DOID:9000937 ! breast hyperplasia created_by: slaulede creation_date: 2022-10-07T14:32:39Z [Term] id: DOID:9004694 name: Lambotte Syndrome alt_id: MIM:245552 synonym: "Microcephaly, holoprosencephaly, and intrauterine growth retardation" EXACT [] xref: MESH:C537549 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9004695 name: Intellectual Developmental Disorder with Autism and Speech Delay def: "A neurodevelopmental disorder characterized by varying degrees of intellectual disability, autism spectrum disorder, and language deficits. Caused by heterozygous mutation in the TBR1 gene on chromosome 2q24. (OMIM)" [] synonym: "autism-related phrase speech delay" EXACT [] synonym: "autism, susceptibility to, 5" RELATED [] synonym: "AUTS5" RELATED [] synonym: "IDDAS" EXACT [] xref: MIM:606053 is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:9005466 ! Language Development Disorders created_by: mtutaj creation_date: 2021-02-18T06:46:06Z [Term] id: DOID:9004696 name: Neuromuscular Oculoauditory Syndrome synonym: "neuromuscular disease and ocular or auditory anomalies with or without seizures" EXACT [] synonym: "NMOAS" EXACT [] xref: MIM:618733 is_a: DOID:2742 ! auditory system disease is_a: DOID:440 ! neuromuscular disease is_a: DOID:5614 ! eye disease created_by: slaulede creation_date: 2020-02-14T13:57:27Z [Term] id: DOID:9004697 name: Interferon Gamma, Receptor 1, Deficiency synonym: "Interferon Gamma Receptor Deficiency" EXACT [] xref: MESH:C535530 xref: NCI:C176806 xref: RDO:0000693 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9004698 name: Morbid Obesity and Spermatogenic Failure synonym: "MOSPGF" EXACT [] xref: MIM:615703 is_a: DOID:0111910 ! spermatogenic failure is_a: DOID:11981 ! morbid obesity [Term] id: DOID:9004699 name: Myopia 12 alt_id: MIM:609995 synonym: "MYOPIA 12, AUTOSOMAL DOMINANT" EXACT [] synonym: "MYP12" EXACT [] xref: MESH:C566489 is_a: DOID:11830 ! myopia [Term] id: DOID:9004700 name: Uniparental Disomy of Chromosome 2 synonym: "Uniparental disomy of 2" EXACT [] xref: MESH:C536470 is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9004701 name: Human Herpesvirus 6 Encephalitis xref: MESH:C538117 xref: RDO:0004051 is_a: DOID:646 ! viral encephalitis is_a: DOID:9002501 ! Roseolovirus Infections [Term] id: DOID:9004702 name: Pregnancy Complications def: "Conditions or pathological processes associated with pregnancy. They can occur during or after pregnancy, and range from minor discomforts to serious diseases that require medical interventions. They include diseases in pregnant females, and pregnancies in females with diseases." [MESH:D011248] synonym: "Pregnancy Complication" EXACT [] synonym: "pregnancy disorder" EXACT [] xref: EFO:0009682 xref: MESH:D011248 is_a: DOID:9000723 ! Female Urogenital Diseases and Pregnancy Complications [Term] id: DOID:9004703 name: Optic Atrophy Spastic Paraplegia Syndrome alt_id: MIM:311100 xref: MESH:C564084 is_a: DOID:225 ! syndrome is_a: DOID:607 ! paraplegia is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:9004704 name: Pythiosis def: "A granulomatous disease caused by the aquatic organism PYTHIUM insidiosum and occurring primarily in horses, cattle, dogs, cats, fishes, and rarely in humans. It is classified into three forms: ocular, cutaneous, and arterial." [MESH:D058968] xref: EFO:1001410 xref: MESH:D058968 is_a: DOID:9002781 ! Zoonoses is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9004705 name: Olivopontocerebellar Atrophy 1 synonym: "Menzel type Olivopontocerebellar atrophy" EXACT [] synonym: "Olivopontocerebellar atrophy 4" EXACT [] synonym: "Schut-Haymaker type Olivopontocerebellar atrophy" EXACT [] synonym: "Spinocerebellar atrophy 1" EXACT [] xref: MESH:C538626 xref: RDO:0004551 is_a: DOID:14784 ! olivopontocerebellar atrophy [Term] id: DOID:9004706 name: Cutis Laxa-Marfanoid Syndrome alt_id: MIM:614100 synonym: "Neonatal Cutis Laxa With Marfanoid Phenotype" EXACT [] xref: MESH:C563639 is_a: DOID:14323 ! Marfan syndrome is_a: DOID:225 ! syndrome is_a: DOID:3144 ! cutis laxa is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9004707 name: Massive Hepatic Necrosis def: "Extensive and rapid death of parenchymal cells in the LIVER, often due to exposure to toxic materials. It is characterized by a soft, flabby, yellow-brown wrinkled, and shrunken liver. It was called 'acute yellow atrophy'." [MESH:D047508] synonym: "Acute Yellow Atrophies" EXACT [] synonym: "Acute Yellow Atrophy" EXACT [] synonym: "Acute Yellow Atrophy of Liver" EXACT [] xref: MESH:D047508 xref: RDO:0007544 is_a: DOID:9004590 ! Acute Liver Failure [Term] id: DOID:9004708 name: Peroxisome Biogenesis Disorder, Complementation Group 14 xref: MESH:C563964 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9004709 name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA def: "An autosomal recessive disorder characterized by global developmental delay and impaired intellectual development with poor speech and language acquisition." [MIM:619005] synonym: "MADD-RELATED CONDITION" BROAD [] synonym: "NEDDISH" EXACT [] xref: MIM:619005 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:92 ! speech disorder created_by: slaulede creation_date: 2020-12-15T13:20:59Z [Term] id: DOID:9004710 name: Alcohol-Induced Sudden Cardiac Failure synonym: "PPA2-RELATED DISORDERS" BROAD [] synonym: "SCFAI" EXACT [] xref: MIM:617223 is_a: DOID:9004354 ! Alcohol-Related Disorders is_a: DOID:9007925 ! Sudden Cardiac Death [Term] id: DOID:9004711 name: Osteosclerosis with Ichthyosis and Fractures alt_id: MIM:166740 synonym: "Cortical Thickening of Long Bones with Bowing and Ichthyosis" EXACT [] xref: MESH:C563483 is_a: DOID:1697 ! ichthyosis is_a: DOID:4254 ! osteosclerosis is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9004712 name: Calcium Oxalate Nephrolithiasis 2 with Nephrocalcinosis def: "An autosomal dominant disorder of renal function characterized by the recurrent formation of CaOx kidney stones. Caused by heterozygous mutation in the OXGR1 gene on chromosome 13q32." [MIM:620374] synonym: "calcium oxalate nephrolithiasis 2 with or without nephrocalcinosis" EXACT [] synonym: "CAON2" EXACT [] xref: MIM:620374 is_a: DOID:0080652 ! calcium oxalate nephrolithiasis created_by: mtutaj creation_date: 2023-05-30T14:35:16Z [Term] id: DOID:9004713 name: Acute-Phase Reaction def: "An early local inflammatory reaction to insult or injury that consists of fever, an increase in inflammatory humoral factors, and an increased synthesis by hepatocytes of a number of proteins or glycoproteins usually found in the plasma." [MESH:D000210] synonym: "Acute-Phase Response" EXACT [] synonym: "Acute Phase State" EXACT [] xref: MESH:D000210 is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9004714 name: Glomerulonephritis with Isolated C3 Deposits and Factor I Deficiency xref: MESH:C567033 xref: RDO:0015220 is_a: DOID:2920 ! membranoproliferative glomerulonephritis [Term] id: DOID:9004715 name: WHIM Syndrome synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis" EXACT [] synonym: "warts, hypogammaglobulinemia, infections, and myelokathexis syndrome" EXACT [] synonym: "warts-hypogammaglobulinemia-infections-myelokathexis syndrome" EXACT [] synonym: "WHIM" EXACT [] synonym: "WHIMS" EXACT [] xref: MIM:PS193670 is_a: DOID:1227 ! neutropenia is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2022-09-13T09:56:11Z [Term] id: DOID:9004716 name: Vesicoureteral Reflux 3 synonym: "SOX17-RELATED CONDITION" EXACT [] synonym: "VUR3" EXACT [] xref: MIM:613674 xref: MONDO:0013356 is_a: DOID:9620 ! vesicoureteral reflux [Term] id: DOID:9004717 name: Post-Exercise Hypotension def: "Transient reduction in blood pressure levels immediately after exercises that lasts 2-12 hours. The reduction varies but is typically 5-20 mm Hg when compared to pre-exercise levels. It exists both in normotensive and hypertensive individuals and may play a role in excercise related PHYSIOLOGIC ADAPTATION." [MESH:D057774] synonym: "Postexercise Hypotension" EXACT [] synonym: "Post Exercise Hypotensions" EXACT [] synonym: "Postexercise Hypotensions" EXACT [] xref: EFO:1001828 xref: MESH:D057774 is_a: DOID:9004453 ! Orthostatic Intolerance is_a: DOID:9006024 ! Hypotension [Term] id: DOID:9004718 name: Congenital Myasthenic Syndrome 25 synonym: "CMS25" EXACT [] synonym: "presynaptic congenital myasthenic syndrome 25" EXACT [] xref: MIM:618323 is_a: DOID:3635 ! congenital myasthenic syndrome created_by: mtutaj creation_date: 2019-02-21T00:00:00Z [Term] id: DOID:9004719 name: Narcotic-Related Disorders def: "Disorders related to or resulting from abuse or misuse of NARCOTICS." [MESH:D000079524] synonym: "MESH:D000079524" EXACT [] synonym: "Narcotic Abuse" NARROW [] synonym: "Narcotic Addiction" NARROW [] synonym: "Narcotic Dependence" NARROW [] is_a: DOID:303 ! substance-related disorder created_by: slaulede creation_date: 2020-02-06T18:17:46Z [Term] id: DOID:9004720 name: Sensory Ataxia, Autosomal Dominant alt_id: RDO:0012981 xref: MESH:C563818 is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9004721 name: HYPOPIGMENTATION, ORGANOMEGALY, AND DELAYED MYELINATION AND DEVELOPMENT def: "A disease characterized by hypopigmented skin and hair with normally pigmented irides; organomegaly including enlargement of liver, kidney, and spleen; and delayed myelination on brain MRI accompanied by developmental delay in both gross and fine motor skills. Biopsy findings from skin and other organs are consistent with a lysosomal storage disorder." [MIM:618541] synonym: "HOD" EXACT [] xref: MIM:618541 is_a: DOID:3211 ! lysosomal storage disease is_a: DOID:9005660 ! Hypopigmentation is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2019-10-08T18:24:55Z [Term] id: DOID:9004722 name: Brachydactyly, Coloboma, and Anterior Segment Dysgenesis alt_id: MIM:610023 xref: MESH:C566484 is_a: DOID:0050581 ! brachydactyly is_a: DOID:12270 ! coloboma [Term] id: DOID:9004723 name: Cattle Diseases def: "Diseases of domestic cattle of the genus Bos. It includes diseases of cows, yaks, and zebus." [MESH:D002418] synonym: "Bovine Disease" EXACT [] synonym: "Bovine Diseases" EXACT [] synonym: "Cattle Disease" EXACT [] xref: MESH:D002418 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9004724 name: Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, and Facial Dysmorphism alt_id: MIM:606242 synonym: "Kondoh Syndrome" EXACT [] xref: MESH:C565246 is_a: DOID:1059 ! intellectual disability is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006836 ! Contracture is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004725 name: Chromosome 9 Ring xref: MESH:C538022 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9004726 name: Perrault Syndrome 4 synonym: "PRLTS4" EXACT [] xref: MIM:615300 is_a: DOID:0050857 ! Perrault syndrome [Term] id: DOID:9004727 name: Visceral Heterotaxy 12, Autosomal def: "An embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. Caused by homozygous or compound heterozygous mutation in the CIROP gene on chromosome 14q11." [MIM:619702] synonym: "HTX12" EXACT [] xref: MIM:619702 is_a: DOID:0050545 ! visceral heterotaxy created_by: mtutaj creation_date: 2022-01-27T10:38:16Z [Term] id: DOID:9004728 name: Ichthyosis Exfoliativa xref: MESH:C563978 is_a: DOID:1697 ! ichthyosis [Term] id: DOID:9004729 name: Nontuberculous Mycobacterium Infections def: "Infections with nontuberculous mycobacteria (atypical mycobacteria): M. kansasii, M. marinum, M. scrofulaceum, M. flavescens, M. gordonae, M. obuense, M. gilvum, M. duvali, M. szulgai, M. intracellulare (see MYCOBACTERIUM AVIUM COMPLEX;), M. xenopi (littorale), M. ulcerans, M. buruli, M. terrae, M. fortuitum (minetti, giae), M. chelonae." [MESH:D009165] synonym: "Atypical Mycobacterial Infection, Disseminated" EXACT [] synonym: "Atypical Mycobacterial Infection, Familial Disseminated" EXACT [] synonym: "Atypical Mycobacteriosis, Familial Disseminated" EXACT [] synonym: "Atypical Mycobacterium Infection" EXACT [] synonym: "Atypical Mycobacterium Infections" EXACT [] synonym: "disseminated atypical mycobacterial infection" EXACT [] synonym: "Familial Atypical Mycobacterioses" EXACT [] synonym: "Familial Atypical Mycobacteriosis" EXACT [] synonym: "FAMILIAL ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL DOMINANT" NARROW [] synonym: "FAMILIAL ATYPICAL MYCOBACTERIOSIS, AUTOSOMAL RECESSIVE" NARROW [] synonym: "MSMD BCG Infection, Generalized Familial" EXACT [] synonym: "Mycobacterial Disease, Mendelian Susceptibility To" NARROW [] synonym: "Nontuberculous Mycobacterium Infection" EXACT [] xref: EFO:1001498 xref: MESH:D009165 is_a: DOID:9001415 ! Mycobacterium Infections [Term] id: DOID:9004730 name: Romano-Ward Syndrome def: "A form of long QT syndrome that is without congenital deafness." [MESH:D029597] synonym: "RWS" EXACT [] synonym: "Ventricular Fibrillation with Prolonged QT Interval" EXACT [] synonym: "WRS" EXACT [] xref: MESH:D029597 xref: ORDO:101016 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:2843 ! long QT syndrome [Term] id: DOID:9004732 name: Congenital Absence of the Sternocleidomastoid Muscle xref: MESH:C535977 is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9004734 name: Microcephaly Deafness Syndrome alt_id: MIM:156620 synonym: "Kawashima-Tsuji syndrome" EXACT [] synonym: "Syndrome of microcephaly, deafness-malformed ears, mental retardation and peculiar facies" EXACT [] xref: MESH:C537326 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008681 ! Deafness [Term] id: DOID:9004735 name: Idiopathic Hypersomnolence alt_id: RDO:0007325 def: "A sleep disorder of central nervous system origin characterized by prolonged nocturnal sleep and periods of daytime drowsiness. Affected individuals experience difficulty with awakening in the morning and may have associated sleep drunkenness, automatic behaviors, and memory disturbances. This condition differs from narcolepsy in that daytime sleep periods are longer, there is no association with CATAPLEXY, and the multiple sleep latency onset test does not record sleep-onset rapid eye movement sleep. (From Chokroverty, Sleep Disorders Medicine, 1994, pp319-20; Psychiatry Clin Neurosci 1998 Apr:52(2):125-129)" [MESH:D020177] synonym: "Idiopathic Central Nervous System Hypersomnolence" EXACT [] synonym: "Idiopathic CNS Hypersomnolence" EXACT [] synonym: "Idiopathic CNS Hypersomnolences" EXACT [] synonym: "Idiopathic Hypersomnia" EXACT [] synonym: "Idiopathic Hypersomnias" EXACT [] synonym: "Idiopathic Hypersomnolences" EXACT [] xref: MESH:D020177 is_a: DOID:8619 ! recurrent hypersomnia [Term] id: DOID:9004736 name: Cole-Carpenter Syndrome 2 synonym: "CLCRP2" EXACT [] synonym: "SEC24D-RELATED CONDITION" EXACT [] xref: MIM:616294 is_a: DOID:0060438 ! Cole-Carpenter syndrome created_by: rgd creation_date: 2017-02-28T00:00:00Z [Term] id: DOID:9004738 name: Immunodeficiency 82 def: "A complex autosomal dominant immunologic disorder characterized by recurrent infections with various organisms, as well as noninfectious inflammation manifest as lymphocytic organ infiltration with gastritis, colitis, and lung, liver, CNS, or skin disease. Caused by heterozygous mutation in the SYK gene on chromosome 9q22. (OMIM)" [] synonym: "IMD82" EXACT [] synonym: "immunodeficiency 82 with systemic inflammation" EXACT [] xref: MIM:619381 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9005372 ! Inflammation created_by: mtutaj creation_date: 2021-06-23T11:23:04Z [Term] id: DOID:9004739 name: Cicatrix def: "The fibrous tissue that replaces normal tissue during the process of WOUND HEALING." [MESH:D002921] synonym: "Cicatrization" EXACT [] synonym: "Scar" EXACT [] synonym: "Scarring" EXACT [] synonym: "Scars" EXACT [] synonym: "severe cutaneous adverse reaction" RELATED [] xref: EFO:0006346 xref: MESH:D002921 xref: RDO:0004747 is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:9004740 name: Cementoma def: "An odontogenic fibroma in which cells have developed into cementoblasts and which consists largely of cementum." [MESH:D002485] synonym: "Cementomas" EXACT [] xref: MESH:D002485 is_a: DOID:9006134 ! Odontogenic Tumors [Term] id: DOID:9004741 name: Hypohidrotic Ectodermal Dysplasia with Hypothyroidism and Ciliary Dyskinesia alt_id: MIM:225050 synonym: "Hedh Syndrome" EXACT [] xref: MESH:C565604 is_a: DOID:1459 ! hypothyroidism is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:9004742 name: Acrodynia def: "A condition seen primarily in childhood, most often resulting from chronic exposure to MERCURY COMPOUNDS which may result in encephalopathy and POLYNEUROPATHY. Clinical features include pain, swelling and pinkish discoloration of the fingers and toes, weakness in the extremities, extreme irritability, HYPERESTHESIA, and alterations in level of consciousness. (From Menkes, Textbook of Child Neurology, 5th ed, p603)" [MESH:D000170] synonym: "Acrodynic Erythema" EXACT [] synonym: "Chronic Childhood Mercurialism" EXACT [] synonym: "Chronic Childhood Mercurialisms" EXACT [] synonym: "Feer's Disease" EXACT [] synonym: "Feer Disease" EXACT [] synonym: "Feers Disease" EXACT [] synonym: "Pink Disease" EXACT [] synonym: "Swift's Disease" EXACT [] synonym: "Swift Disease" EXACT [] synonym: "Swifts Disease" EXACT [] xref: EFO:1001756 xref: MESH:D000170 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9004871 ! Mercury Poisoning, Nervous System [Term] id: DOID:9004743 name: Neurofaciodigitorenal Syndrome alt_id: MIM:256690 synonym: "Freire-Maia Pinheiro Opitz syndrome" EXACT [] synonym: "NFDR Syndrome" EXACT [] xref: MESH:C537388 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004744 name: Sleep Bruxism def: "A sleep disorder characterized by grinding and clenching of the teeth and forceful lateral or protrusive jaw movements. Sleep bruxism may be associated with TOOTH INJURIES; TEMPOROMANDIBULAR JOINT DISORDERS; sleep disturbances; and other conditions." [MESH:D020186] synonym: "Adult Sleep Bruxism" EXACT [] synonym: "Adult Sleep Bruxisms" EXACT [] synonym: "Childhood Sleep Bruxism" EXACT [] synonym: "Childhood Sleep Bruxisms" EXACT [] synonym: "Nocturnal Bruxism" EXACT [] synonym: "Nocturnal Bruxisms" EXACT [] synonym: "Nocturnal Teeth Grinding Disorder" EXACT [] synonym: "Sleep Bruxisms" EXACT [] synonym: "Sleep Related Bruxism" EXACT [] synonym: "Sleep-Related Bruxisms" EXACT [] xref: MESH:D020186 is_a: DOID:2846 ! bruxism is_a: DOID:9004040 ! Parasomnias [Term] id: DOID:9004745 name: RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ABNORMALITIES synonym: "RDGCA" EXACT [] synonym: "Retinal dystrophy with inner nuclear layer and ganglion cell anomalies" EXACT [] xref: MIM:616079 xref: NCI:C168587 xref: ORDO:397758 is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:9004746 name: Spastic Diplegia Infantile Type alt_id: MIM:270600 synonym: "Hereditary spastic diplegia with mental retardation" EXACT [] synonym: "SPASTIC DIPLEGIA AND IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT [] synonym: "SPASTIC DIPLEGIA AND MENTAL RETARDATION" EXACT [] xref: MESH:C537481 is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:9004747 name: Milk Sickness def: "An acute, often fatal disease caused by the ingestion of milk, milk products, or the flesh of cattle or sheep which have a disease known as trembles. It is marked by weakness, anorexia, vomiting, constipation, and sometimes muscular tremors. It is caused by poisoning by white snakeroot (Eupatorium rugosum) and the rayless goldenrod (Haplopappus heterophyllus). (From Dorland, 27th ed)" [MESH:D018602] xref: MESH:D018602 is_a: DOID:9003189 ! Plant Poisoning [Term] id: DOID:9004748 name: Hennekam Lymphangiectasia-Lymphedema Syndrome 3 def: "HKLLS3 is a disease characterized by widespread congenital edema that is more severe in more dependent areas of the body. Associated features include facial dysmorphism and protein-losing enteropathy of variable severity. HKLLS3 is caused by homozygous or compound heterozygous mutation in the ADAMTS3 gene on chromosome 4q13. (OMIM)" [MIM:618154] synonym: "HKLLS3" EXACT [] xref: MIM:618154 is_a: DOID:0060366 ! Hennekam syndrome created_by: slaulede creation_date: 2019-01-14T17:16:42Z [Term] id: DOID:9004749 name: Omphalocele, Cleft Palate Syndrome Lethal alt_id: MIM:258320 xref: MESH:C537747 is_a: DOID:0060321 ! umbilical hernia is_a: DOID:674 ! cleft palate [Term] id: DOID:9004750 name: Thrombocytopenia with Elevated Serum Iga and Renal Disease alt_id: MIM:314000 xref: MESH:C564051 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:557 ! kidney disease [Term] id: DOID:9004751 name: Nausea def: "An unpleasant sensation in the stomach usually accompanied by the urge to vomit. Common causes are early pregnancy, sea and motion sickness, emotional stress, intense pain, food poisoning, and various enteroviruses." [MESH:D009325] xref: MESH:D009325 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9004753 name: Obesity Hypoventilation Syndrome alt_id: MIM:257500 def: "HYPOVENTILATION syndrome in very obese persons with excessive ADIPOSE TISSUE around the ABDOMEN and DIAPHRAGM. It is characterized by diminished to absent ventilatory chemoresponsiveness; chronic HYPOXIA; HYPERCAPNIA; POLYCYTHEMIA; and long periods of sleep during day and night (HYPERSOMNOLENCE). It is a condition often related to OBSTRUCTIVE SLEEP APNEA but can occur separately." [MESH:D010845] synonym: "Pickwickian Syndrome" EXACT [] xref: EFO:1001382 xref: MESH:D010845 is_a: DOID:0050848 ! obstructive sleep apnea is_a: DOID:225 ! syndrome is_a: DOID:9003671 ! Hypoventilation is_a: DOID:9970 ! obesity [Term] id: DOID:9004754 name: Alopecia Universalis Congenita, XY Gonadal Dysgenesis, and Laryngomalacia alt_id: MIM:608509 xref: MESH:C563920 is_a: DOID:0050634 ! alopecia universalis is_a: DOID:0080833 ! laryngomalacia is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:9004755 name: Hemophilic Arthropathy def: "Joint degeneration following recurrent bleeding episodes in patients with severe hemophilia." [] xref: RDO:9000388 is_a: DOID:801 ! hemarthrosis created_by: rgd creation_date: 2016-02-19T00:00:00Z [Term] id: DOID:9004756 name: Brain Hypoxia def: "A reduction in brain oxygen supply due to ANOXEMIA (a reduced amount of oxygen being carried in the blood by HEMOGLOBIN), or to a restriction of the blood supply to the brain, or both. Severe hypoxia is referred to as anoxia, and is a relatively common cause of injury to the central nervous system. Prolonged brain anoxia may lead to BRAIN DEATH or a PERSISTENT VEGETATIVE STATE. Histologically, this condition is characterized by neuronal loss which is most prominent in the HIPPOCAMPUS; GLOBUS PALLIDUS; CEREBELLUM; and inferior olives." [MESH:D002534] synonym: "Anoxic Brain Damage" EXACT [] synonym: "Anoxic Encephalopathies" EXACT [] synonym: "Anoxic Encephalopathy" EXACT [] synonym: "Brain Anoxia" EXACT [] synonym: "Cerebral Anoxia" EXACT [] synonym: "Cerebral Hypoxia" EXACT [] synonym: "Hypoxic Brain Damage" EXACT [] synonym: "Hypoxic Encephalopathies" EXACT [] synonym: "Hypoxic Encephalopathy" EXACT [] xref: EFO:1001766 xref: MESH:D002534 is_a: DOID:936 ! brain disease [Term] id: DOID:9004757 name: Axial Myopathy, Late-Onset def: "A non-specific myopathic disease, restricted to para-spinal musculature." [] xref: RDO:9000336 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9004758 name: Brain-Lung-Thyroid Syndrome alt_id: MIM:610978 synonym: "CAHTP" EXACT [] synonym: "choreoathetosis and congenital hypothyroidism" EXACT [] synonym: "choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction" EXACT [] synonym: "choreoathetosis, hypothyroidism, and neonatal respiratory distress" EXACT [] xref: MESH:C567034 xref: NCI:C202546 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:12716 ! newborn respiratory distress syndrome is_a: DOID:12859 ! choreatic disease is_a: DOID:225 ! syndrome is_a: DOID:9008739 ! Athetosis [Term] id: DOID:9004759 name: Familial Actinic Keratosis alt_id: MIM:148390 xref: MESH:C567190 is_a: DOID:8866 ! actinic keratosis [Term] id: DOID:9004760 name: Paroxysmal Dyspnea alt_id: RDO:0005420 def: "A disorder characterized by sudden attacks of respiratory distress in at rest patients with HEART FAILURE and PULMONARY EDEMA. It usually occurs at night after several hours of sleep in a reclining position. Patients awaken with a feeling of suffocation, coughing, a cold sweat, and TACHYCARDIA. When there is significant WHEEZING, it is called cardiac asthma." [MESH:D004418] synonym: "Asthma, Cardiac" EXACT [] synonym: "ASTHMA, NOCTURNAL, SUSCEPTIBILITY TO" RELATED [] synonym: "Dyspnea, Paroxysmal Nocturnal" EXACT [] synonym: "Paroxysmal Dyspneas" EXACT [] xref: MESH:D004418 is_a: DOID:6000 ! congestive heart failure is_a: DOID:9000590 ! Dyspnea [Term] id: DOID:9004761 name: Artificial Lens Implant Migration def: "The shifting and or tilting of implanted artificial lens resulting in impaired vision." [MESH:D060437] synonym: "Artificial Intra ocular Implant Dislocation" EXACT [] synonym: "Artificial Lens Implant Dislocation" EXACT [] xref: MESH:D060437 xref: RDO:0010037 is_a: DOID:110 ! lens disease is_a: DOID:9005684 ! Foreign-Body Migration [Term] id: DOID:9004762 name: Familial Atrial Fibrillation 8 alt_id: MIM:613055 synonym: "ATFB8" EXACT [] xref: MESH:C567802 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9004763 name: Trauma and Stressor Related Disorders def: "Disorders in which exposure to a traumatic or stressful event is explicitly a diagnostic criterion." [MESH:D000068099] synonym: "occupation-related stress disorder" NARROW [] xref: EFO:0005250 xref: MESH:D000068099 is_a: DOID:150 ! disease of mental health [Term] id: DOID:9004764 name: Lithiasis def: "A condition characterized by the formation of CALCULI and concretions in the hollow organs or ducts of the body. They occur most often in the gallbladder, kidney, and lower urinary tract." [MESH:D020347] synonym: "Calculoses" EXACT [] synonym: "Calculosis" EXACT [] synonym: "Lithiases" EXACT [] xref: MESH:D020347 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9004765 name: Cardioacrofacial Dysplasia 1 synonym: "CAFD1" EXACT [] xref: MIM:619142 is_a: DOID:9000250 ! Cardioacrofacial Dysplasia created_by: mtutaj creation_date: 2021-01-04T17:02:20Z [Term] id: DOID:9004766 name: Familial Hemophagocytic Lymphohistiocytosis 6 synonym: "FHL6" EXACT [] synonym: "IMDYSHI" EXACT [] synonym: "Immune dysregulation and systemic hyperinflammation syndrome" EXACT [] xref: MIM:618998 is_a: DOID:9004404 ! Familial Hemophagocytic Lymphohistiocytoses created_by: mtutaj creation_date: 2020-09-02T13:40:07Z [Term] id: DOID:9004767 name: Acute Stress Disorders, Traumatic def: "A class of traumatic stress disorders that is characterized by the significant dissociative states seen immediately after overwhelming trauma. By definition it cannot last longer than 1 month, if it persists, a diagnosis of post-traumatic stress disorder (STRESS DISORDERS, POST-TRAUMATIC) is more appropriate." [MESH:D040701] synonym: "acute stress disorder" EXACT [] synonym: "acute stress disorders" EXACT [] xref: MESH:D040701 is_a: DOID:6088 ! acute stress disorder [Term] id: DOID:9004768 name: Carey-Fineman-Ziter Syndrome 2 def: "An autosomal recessive disorder characterized by weakness of the facial musculature, hypomimic facies, increased overbite, micrognathia, and facial dysmorphism. Caused by homozygous mutation in MYMX gene on chromosome 6p21." [MIM:619941] synonym: "CFZS2" EXACT [] xref: MIM:619941 is_a: DOID:0080194 ! Carey-Fineman-Ziter syndrome created_by: mtutaj creation_date: 2022-07-01T12:25:30Z [Term] id: DOID:9004769 name: Broad-Betalipoproteinemia synonym: "broad beta disease" EXACT [] synonym: "broad-beta hyperlipoproteinemia" EXACT [] xref: MESH:C566264 is_a: DOID:3145 ! hyperlipoproteinemia type III [Term] id: DOID:9004770 name: Preaxial Hallucal Polydactyly alt_id: MIM:601759 xref: MESH:C566632 is_a: DOID:9005329 ! Preaxial Polydactyly [Term] id: DOID:9004771 name: Vascular Remodeling def: "The active alterations of vascular wall structures, often leading to elevated VASCULAR RESISTANCE. It is associated with AGING; ATHEROSCLEROSIS; DIABETES MELLITUS; HYPERTENSION; PREGNANCY; PULMONARY HYPERTENSION; and STROKE, but is also a normal part of EMBRYOGENESIS." [MESH:D066253] synonym: "Pulmonary Arterial Remodeling" EXACT [] synonym: "Pulmonary Arterial Remodelings" EXACT [] synonym: "Vascular Remodelings" EXACT [] xref: MESH:D066253 is_a: DOID:9004611 ! Pathologic Processes is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9004772 name: Mental Retardation, Microcephaly, Epilepsy, and Coarse Face alt_id: MIM:601352 xref: MESH:C563342 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004773 name: Genu Valgum, St Helena Familial alt_id: MIM:137370 synonym: "Hereditary pubertal genu valgum" EXACT [] xref: MESH:C537685 is_a: DOID:9008214 ! Genu Valgum [Term] id: DOID:9004774 name: Hyperphosphatemia, Polyuria, and Seizures alt_id: MIM:239350 xref: MESH:C565494 is_a: DOID:0050459 ! hyperphosphatemia is_a: DOID:1826 ! epilepsy is_a: DOID:9005274 ! Polyuria [Term] id: DOID:9004775 name: Trichoepitheliomas, Multiple Desmoplastic alt_id: MIM:190345 xref: MESH:C566034 is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9004776 name: Ectopia Pupillae alt_id: MIM:129750 def: "A congenital eye malformation in which the pupils are displaced from their normal central position. (OMIM)" [] synonym: "ectopic pupil" EXACT [] synonym: "ectopic pupils" EXACT [] synonym: "familial ectopic pupil" EXACT [] xref: MESH:C536185 is_a: DOID:238 ! pupil disease [Term] id: DOID:9004777 name: Mediastinal Emphysema def: "Presence of air in the mediastinal tissues due to leakage of air from the tracheobronchial tree, usually as a result of trauma." [MESH:D008478] synonym: "Mediastinal Emphysemas" EXACT [] synonym: "Pneumomediastinum" EXACT [] xref: MESH:D008478 is_a: DOID:9002884 ! Emphysema is_a: DOID:9007003 ! Mediastinal Diseases [Term] id: DOID:9004778 name: Exostoses with Anetodermia and Brachydactyly Type E alt_id: MIM:133690 xref: MESH:C565034 is_a: DOID:203 ! exostosis is_a: DOID:9006392 ! Anetoderma is_a: DOID:9006432 ! Brachydactyly, Type E [Term] id: DOID:9004779 name: Autoimmune Lymphoproliferative Syndrome, Type IB synonym: "ALPS1B" EXACT [] synonym: "autoimmune lymphoproliferative syndrome, type 1B" EXACT [] xref: MESH:C566614 is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:9004780 name: Carcinoma, Krebs 2 def: "A transplantable neoplasm of mice." [MESH:D002287] xref: EFO:1001007 xref: MESH:D002287 is_a: DOID:305 ! carcinoma is_a: DOID:9002170 ! Experimental Neoplasms [Term] id: DOID:9004781 name: Congenital Ptosis, Hereditary 1 alt_id: MIM:178300 alt_id: RDO:0015006 synonym: "PTOS1" EXACT [] xref: MESH:C566737 is_a: DOID:0060261 ! congenital ptosis [Term] id: DOID:9004782 name: Levator-Medial Rectus Synkinesis alt_id: MIM:151610 synonym: "OCLEVS" EXACT [] synonym: "Oculomotor-Levator Synkinesis" EXACT [] xref: MESH:C563625 is_a: DOID:1279 ! ocular motility disease is_a: DOID:9005416 ! Synkinesis [Term] id: DOID:9004783 name: Transient Neonatal Diabetes Mellitus, 1 alt_id: MESH:C579872 alt_id: MIM:601410 def: "TNDM1 is caused by overexpression of the paternal allele of the imprinted locus at chromosome 6q24, which contains only 2 expressed genes, PLAGL1 and HYMAI. (OMIM)" [] synonym: "6q24-Related Diabetes Mellitus" EXACT [] synonym: "6q24-related transient neonatal diabetes mellitus" EXACT [] synonym: "6q24-Tndm" EXACT [] synonym: "TNDM1" EXACT [] synonym: "TNDM type 1" EXACT [] xref: MESH:C563322 is_a: DOID:0060334 ! transient neonatal diabetes mellitus [Term] id: DOID:9004785 name: Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant xref: MESH:C563305 is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:9004786 name: Carbon Tetrachloride Poisoning def: "Poisoning that results from ingestion, injection, inhalation, or skin absorption of CARBON TETRACHLORIDE." [MESH:D002252] synonym: "Carbon Tetrachloride Poisonings" EXACT [] synonym: "CCl4 Poisoning" EXACT [] synonym: "CCl4 Poisonings" EXACT [] xref: MESH:D002252 xref: RDO:0005108 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9004787 name: Familial Horizontal Gaze Palsy with Progressive Scoliosis synonym: "Familial Idiopathic Scoliosis Associated with Congenital Encephalopathy" EXACT [] synonym: "Familial Infantile Scoliosis Associated with Bilateral Paralysis of Conjugate Gaze" EXACT [] synonym: "Hgpps" EXACT [] synonym: "HGPPS OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS" NARROW [] synonym: "Horizontal Gaze Palsy with Progressive Scoliosis" EXACT [] synonym: "OPHTHALMOPLEGIA, PROGRESSIVE EXTERNAL, AND SCOLIOSIS" NARROW [] xref: MESH:C564593 xref: MIM:PS607313 is_a: DOID:0060249 ! scoliosis is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:9004789 name: Extranodal Extension def: "A penetration of LYMPH NODE metastatic cells through the nodal capsule into the perinodal fatty tissue used in a TUMOR STAGING system (the TNM staging system)." [MESH:D000079822] synonym: "Extracapsular Extension" EXACT [] synonym: "Extranodal Tumor Deposits" EXACT [] synonym: "Tumor Deposit" EXACT [] xref: MESH:D000079822 is_a: DOID:9000965 ! Neoplasm Metastasis created_by: slaulede creation_date: 2020-02-06T17:14:10Z [Term] id: DOID:9004790 name: Short Stature and Locking Fingers xref: MESH:C537603 xref: RDO:0003473 is_a: DOID:381 ! arthropathy is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9004791 name: Stapes Ankylosis with Broad Thumbs and Toes synonym: "ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY" EXACT [] synonym: "ANKYLOSIS OF STAPES, HYPEROPIA, BROAD THUMBS, BROAD FIRST TOES, AND SYNDACTYLY TEUNISSEN-CREMERS SYNDROME STAPES ANKYLOSIS SYNDROME WITHOUT SYMPHALANGISM" EXACT [] synonym: "TEUNISSEN-CREMERS SYNDROME" EXACT [] xref: MIM:184460 is_a: DOID:11193 ! syndactyly is_a: DOID:227 ! ankylosis created_by: slaulede creation_date: 2020-03-06T10:07:31Z [Term] id: DOID:9004792 name: Familial Mixed Cryoglobulinemia alt_id: MIM:123550 synonym: "Meltzer Syndrome" EXACT [] xref: MESH:C565141 is_a: DOID:2917 ! cryoglobulinemia is_a: DOID:630 ! genetic disease [Term] id: DOID:9004793 name: Brachydactyly, Intraventricular Septal Defect, and Deafness alt_id: MIM:602561 xref: MESH:C566521 is_a: DOID:0050581 ! brachydactyly is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1657 ! ventricular septal defect is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004794 name: Granuloma, Plasma Cell def: "A slow-growing benign pseudotumor in which plasma cells greatly outnumber the inflammatory cells." [MESH:D006104] synonym: "Inflammatory Pseudotumor" EXACT [] synonym: "Inflammatory Pseudotumors" EXACT [] synonym: "Plasma Cell Granulomas" EXACT [] xref: MESH:D006104 xref: RDO:0005701 is_a: DOID:9002019 ! Granuloma [Term] id: DOID:9004795 name: Congenital Hand Deformities def: "Alterations or deviations from normal shape or size which result in a disfigurement of the hand occurring at or before birth." [MESH:D006228] synonym: "Congenital Hand Deformity" EXACT [] synonym: "HAND OLIGODACTYLY" NARROW [] synonym: "OLIGODACTYLY (HANDS)" NARROW [] xref: MESH:D006228 is_a: DOID:9004402 ! Congenital Upper Extremity Deformities is_a: DOID:9008871 ! Hand Deformities [Term] id: DOID:9004796 name: Familial Static Ophthalmoplegia alt_id: MIM:165000 synonym: "congenital hereditary nonprogressive external ophthalmoplegia" EXACT [] xref: MESH:C563500 is_a: DOID:539 ! ophthalmoplegia [Term] id: DOID:9004797 name: Fetal Nutrition Disorders def: "Disorders caused by nutritional imbalance, either overnutrition or undernutrition, in the FETUS in utero." [MESH:D048070] synonym: "Fetal Malnutrition" EXACT [] synonym: "Fetal Nutrition Disorder" EXACT [] xref: MESH:D048070 is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9005695 ! Malnutrition [Term] id: DOID:9004798 name: Drug Resistant Epilepsy def: "Epileptic condition in which adequate trials of two tolerated and appropriately chosen and used ANTIEPILEPTIC DRUGS schedules to achieve sustained seizure freedom failed." [MESH:D000069279] synonym: "Drug Refractory Epilepsies" EXACT [] synonym: "Drug Refractory Epilepsy" EXACT [] synonym: "Drug Resistant Epilepsies" EXACT [] synonym: "Intractable Epilepsies" EXACT [] synonym: "Intractable Epilepsy" EXACT [] synonym: "Medication Resistant Epilepsies" EXACT [] synonym: "Medication Resistant Epilepsy" EXACT [] xref: MESH:D000069279 xref: RDO:0016011 is_a: DOID:1826 ! epilepsy [Term] id: DOID:9004799 name: KURY-ISIDOR SYNDROME def: "This disease is characterized mainly by mild global developmental delay apparent from infancy or early childhood with walking delayed by a few years and speech delay. Most patients have behavioral problems, including autism." [MIM:619762] synonym: "KURIS" EXACT [] xref: MIM:619762 is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2022-03-21T12:47:56Z [Term] id: DOID:9004800 name: Uveal Effusion Syndrome def: "Rare disease characterized by suprachoroidal fluid accumulation between the CHOROID and the SCLERA, annular detachment of the CHOROID, often with secondary RETINAL DETACHMENT; OPTIC DISK EDEMA, and minimal signs of UVEITIS and INTRAOCULAR PRESSURE changes." [MESH:D000080323] xref: MESH:D000080323 is_a: DOID:9006562 ! Choroidal Effusions created_by: slaulede creation_date: 2020-02-07T14:29:30Z [Term] id: DOID:9004801 name: Circumvallate Placenta Syndrome alt_id: MIM:215550 xref: MESH:C565847 is_a: DOID:11162 ! respiratory failure is_a: DOID:225 ! syndrome is_a: DOID:8488 ! polyhydramnios is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9004802 name: Butyrylcholinesterase Deficiency, Fluoride-Resistant, Japanese Type synonym: "Hypocholinesterasemia, Fluoride-Resistant, Japanese Type" EXACT [] xref: MESH:C566751 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9004804 name: Chromosome 6, Monosomy 6q synonym: "Chromosome 6q deletion" EXACT [] synonym: "Deletion 6q" EXACT [] synonym: "Monosomy 6q" EXACT [] xref: GARD:3760 xref: MESH:C537807 xref: MONDO:0016905 xref: ORDO:262047 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9004805 name: Central Nervous System Parasitic Infections def: "Infections of the brain, spinal cord, and meninges caused by parasites." [MESH:D020807] xref: MESH:D020807 xref: RDO:0007434 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:9000025 ! Central Nervous System Infections [Term] id: DOID:9004806 name: Thanatophoric Dysplasia, Type II alt_id: MIM:187601 synonym: "cloverleaf skull with thanatophoric dwarfism" EXACT [] synonym: "TD2" EXACT [] synonym: "Thanatophoric Dysplasia, Type 2" EXACT [] synonym: "Thanatophoric dysplasia with Kleeblattschaedel" EXACT [] synonym: "thanatophoric dysplasia with straight femurs and cloverleaf skull" EXACT [] xref: MESH:C536508 is_a: DOID:13481 ! thanatophoric dysplasia [Term] id: DOID:9004807 name: Catatonic Schizophrenia def: "A type of schizophrenia characterized by abnormality of motor behavior which may involve particular forms of stupor, rigidity, excitement or inappropriate posture." [MESH:D012560] synonym: "Catatonic Schizophrenias" EXACT [] synonym: "periodic catatonia" EXACT [] xref: MESH:D012560 is_a: DOID:5419 ! schizophrenia [Term] id: DOID:9004808 name: Partial Aphalangia with Syndactyly and Duplication of Metatarsal IV alt_id: MIM:600384 xref: MESH:C563942 is_a: DOID:1059 ! intellectual disability is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9004809 name: Cartilage Hair Hypoplasia Like Syndrome xref: MESH:C535915 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9004810 name: Neurocysticercosis def: "Infection of the brain, spinal cord, or perimeningeal structures with the larval forms of the genus TAENIA (primarily T. solium in humans). Lesions formed by the organism are referred to as cysticerci. The infection may be subacute or chronic, and the severity of symptoms depends on the severity of the host immune response and the location and number of lesions. SEIZURES represent the most common clinical manifestation although focal neurologic deficits may occur. (From Joynt, Clinical Neurology, 1998, Ch27, pp46-50)" [MESH:D020019] synonym: "brain cysticercosis" EXACT [] synonym: "Central Nervous System Cysticercosis" EXACT [] synonym: "neurocysticercoses" EXACT [] xref: MESH:D020019 is_a: DOID:10079 ! cysticercosis is_a: DOID:9000928 ! Central Nervous System Helminthiasis [Term] id: DOID:9004811 name: Vascular Hyalinosis alt_id: MIM:277175 xref: MESH:C564750 is_a: DOID:13250 ! diarrhea is_a: DOID:178 ! vascular disease is_a: DOID:5295 ! intestinal disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9004812 name: Juvenile Systemic Scleroderma xref: MESH:C537703 is_a: DOID:418 ! systemic scleroderma [Term] id: DOID:9004813 name: Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia alt_id: MIM:604380 xref: MESH:C565783 is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9004814 name: Chromosome Aberrations def: "Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS." [MESH:D002869] synonym: "Autosome Abnormalities" EXACT [] synonym: "Autosome Abnormality" EXACT [] synonym: "Chromosomal Aberration" EXACT [] synonym: "Chromosomal Aberrations" EXACT [] synonym: "Chromosomal Abnormalities" EXACT [] synonym: "Chromosomal Abnormality" EXACT [] synonym: "Chromosome Aberration" EXACT [] synonym: "Chromosome Abnormalities" EXACT [] synonym: "Chromosome Abnormality" EXACT [] synonym: "Cytogenetic Aberration" EXACT [] synonym: "Cytogenetic Aberrations" EXACT [] synonym: "Cytogenetic Abnormalities" EXACT [] synonym: "Cytogenetic Abnormality" EXACT [] xref: EFO:0000336 xref: MESH:D002869 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9004816 name: Jaw Cysts def: "Saccular lesions lined with epithelium and contained within pathologically formed cavities in the jaw; also nonepithelial cysts (pseudocysts) as they apply to the jaw, e.g., traumatic or solitary cyst, static bone cavity, and aneurysmal bone cyst. True jaw cysts are classified as odontogenic or nonodontogenic." [MESH:D007570] synonym: "Jaw Cyst" EXACT [] xref: MESH:D007570 is_a: DOID:9003876 ! Jaw Diseases is_a: DOID:9008327 ! Bone Cysts [Term] id: DOID:9004817 name: Hypophysitis def: "Inflammation of the PITUITARY GLAND." [MESH:D000072659] synonym: "Hypophysitides" EXACT [] xref: MESH:D000072659 is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:9004818 name: Zinc, Elevated Plasma synonym: "ALBUMIN BINDING OF ZINC, ELEVATED" EXACT [] synonym: "HYPERZINCEMIA, FAMILIAL DYSALBUMINEMIC" EXACT [] xref: MIM:194470 xref: MONDO:0008691 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:9004819 name: Juvenile Paralysis Agitans of Hunt alt_id: MIM:168100 alt_id: RDO:0012184 synonym: "Parkinson's Disease, Juvenile, Of Hunt" EXACT [] synonym: "Parkinson Disease, Juvenile, Of Hunt" EXACT [] xref: MESH:C562469 is_a: DOID:0060893 ! juvenile-onset Parkinson's disease [Term] id: DOID:9004820 name: Congenital Nonspherocytic Hemolytic Anemia 8 synonym: "CNSHA8" EXACT [] synonym: "Hemolytic Anemia due to P5N Deficiency" EXACT [] synonym: "Hemolytic Anemia due to Pyrimidine 5-Prime Nucleotidase Deficiency" EXACT [] synonym: "Hemolytic Anemia due to UMPH1 Deficiency" EXACT [] synonym: "Hemolytic Anemia due to Uridine 5-Prime Monophosphate Hydrolase Deficiency" EXACT [] synonym: "P5N Deficiency" EXACT [] synonym: "UMPH1 Deficiency" EXACT [] xref: MESH:C564859 xref: MIM:266120 xref: MONDO:0009946 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:9004821 name: Fibrous Sheath Dysplasia xref: RDO:9000727 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:9004822 name: Hypertrichosis Congenital Generalized X-Linked alt_id: MIM:307150 alt_id: RDO:0004364 synonym: "CGH" EXACT [] synonym: "CHROMOSOME Xq27.1 INTERCHROMOSOMAL INSERTION SYNDROME" EXACT [] synonym: "congenital generalized hypertrichosis" BROAD [] synonym: "HCG" EXACT [] synonym: "HTC2" EXACT [] synonym: "Macias-Flores Garcia-Cruz Rivera syndrome" EXACT [] xref: MESH:C538388 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9004823 name: Brown Oculocutaneous Albinism xref: MESH:C562662 xref: RDO:0012278 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:9004824 name: Pseudohypoparathyroidism Type II alt_id: MIM:203330 alt_id: RDO:0004657 synonym: "PHP2" EXACT [] synonym: "PHP II" EXACT [] synonym: "Pseudohypoparathyroidism Type 2" EXACT [] xref: MESH:C548077 is_a: DOID:4184 ! pseudohypoparathyroidism [Term] id: DOID:9004825 name: Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal alt_id: MIM:602613 xref: MESH:C566514 is_a: DOID:0080006 ! bone development disease is_a: DOID:331 ! central nervous system disease is_a: DOID:9002955 ! Nerve Degeneration [Term] id: DOID:9004826 name: Benign Familial Macrocephaly alt_id: MIM:153470 synonym: "Benign familial megalencephaly" EXACT [] synonym: "Cole-Hughes syndrome" EXACT [] xref: MESH:C537717 is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9004827 name: Pachygyria with Mental Retardation, Seizures, and Arachnoid Cysts alt_id: MIM:600176 synonym: "Kuzniecky Syndrome" EXACT [] synonym: "pachygyria, mental retardation and epilepsy" EXACT [] synonym: "pachygyria with impaired intellectual development, seizures, and arachnoid cysts" EXACT [] synonym: "pachygyria with mental retardation and seizures" EXACT [] xref: MESH:C538091 is_a: DOID:0050453 ! lissencephaly is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:9007612 ! Arachnoid Cysts [Term] id: DOID:9004828 name: Tooth Migration def: "The movement of teeth into altered positions in relationship to the basal bone of the ALVEOLAR PROCESS and to adjoining and opposing teeth as a result of loss of approximating or opposing teeth, occlusal interferences, habits, inflammatory and dystrophic disease of the attaching and supporting structures of the teeth. (From Boucher's Clinical Dental Terminology, 4th ed)" [MESH:D014085] synonym: "Tooth Drift" EXACT [] synonym: "Tooth Drifting" EXACT [] xref: MESH:D014085 is_a: DOID:3388 ! periodontal disease [Term] id: DOID:9004829 name: Skin/Hair/Eye Pigmentation, Variation In, 6 alt_id: MIM:210750 synonym: "SHEP6" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 6, Blond-Brown Hair" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 6, Blue-Green Eyes" EXACT [] xref: MESH:C567139 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9004830 name: NEUROCARDIOFACIODIGITAL SYNDROME def: "This disease is characterized by severe developmental delay, variable brain anomalies, congenital heart defects, dysmorphic facial features, and a distinctive type of synpolydactyly with a supernumerary hypoplastic digit between the fourth and fifth digits of the hands and/or feet. Other features include eye abnormalities, hearing impairment, and electroencephalogram anomalies." [MIM:619869] synonym: "NCFD" EXACT [] xref: MIM:619869 is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2022-06-28T10:14:58Z [Term] id: DOID:9004831 name: Colitis-Associated Neoplasms def: "Colonic neoplasms associated with chronic inflammation conditions such as ULCERATIVE COLITIS and CROHN DISEASE. (MESH)" [] synonym: "Colitis-Associated Cancer" EXACT [] synonym: "Colitis-Associated Colon Cancer" EXACT [] synonym: "Colitis-Associated Colorectal Cancer" EXACT [] synonym: "Dysplasia in Ulcerative Colitis" RELATED [] xref: EFO:1000226 xref: MESH:D000083023 is_a: DOID:9002928 ! Colonic Neoplasms created_by: mtutaj creation_date: 2020-12-22T09:51:29Z [Term] id: DOID:9004832 name: Congenital Hypomyelinating Neuropathy 2 def: "An autosomal dominant neurologic disorder characterized by early-onset hypotonia, severely delayed motor development, muscle weakness with areflexia, and severely decreased nerve conduction velocities (NCV) resulting from improper myelination of axons." [MIM:618184] synonym: "CHN2" EXACT [] xref: MIM:618184 is_a: DOID:9001527 ! Congenital Hypomyelinating Neuropathy created_by: slaulede creation_date: 2019-01-11T14:00:38Z [Term] id: DOID:9004833 name: Kleiner Holmes Syndrome alt_id: MIM:234280 synonym: "Hallux varus and preaxial polysyndactyly" EXACT [] xref: MESH:C536885 is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9002707 ! Hallux Varus is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004835 name: Immunodeficiency 75 synonym: "IMD75" EXACT [] synonym: "Immunodeficiency-75 with lymphoproliferation" EXACT [] synonym: "TET2-RELATED CONDITION" BROAD [] xref: MIM:619126 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2020-12-31T09:15:47Z [Term] id: DOID:9004836 name: CAP-Congenital Myopathy with Arthrogryposis Multiplex Congenita without Heart Involvement is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:9000552 ! Cap Myopathy created_by: rgd creation_date: 2016-02-09T00:00:00Z [Term] id: DOID:9004838 name: Oocyte/Zygote/Embryo Maturation Arrest 11 def: "Characterized by reduced or absent fertility and poor embryonic outcomes with assisted reproductive technology. Caused by homozygous mutation in the ASTL gene on chromosome 2q11." [MIM:619643] synonym: "Oocyte Maturation Defect 11" EXACT [] synonym: "OOMD11" EXACT [] synonym: "OZEMA11" EXACT [] xref: MIM:619643 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2021-12-07T16:43:51Z [Term] id: DOID:9004839 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH GASTROINTESTINAL DIFFICULTIES AND HIGH PAIN THRESHOLD def: "An autosomal dominant syndromic neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with speech delay, and behavioral abnormalities. Most patients have variable additional features, including feeding and gastrointestinal difficulties, high pain threshold and/or hypersensitivity to sound, and dysmorphic features, including mild facial abnormalities, strabismus, and small hands and feet. (OMIM)" [] synonym: "IDDGIP" EXACT [] synonym: "PPM1D-RELATED CONDITION" BROAD [] xref: MIM:617450 xref: RDO:9001709 is_a: DOID:1059 ! intellectual disability is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9000641 ! Pain is_a: DOID:9008482 ! Congenital Pain Insensitivity is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9004841 name: Dwarfism, Levi Type alt_id: MIM:127100 synonym: "Snub-Nosed Type of Dwarfism" EXACT [] xref: MESH:C565081 is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9004842 name: Periodontal Attachment Loss def: "Loss or destruction of periodontal tissue caused by periodontitis or other destructive periodontal diseases or by injury during instrumentation. Attachment refers to the periodontal ligament which attaches to the alveolar bone. It has been hypothesized that treatment of the underlying periodontal disease and the seeding of periodontal ligament cells enable the creating of new attachment." [MESH:D017622] xref: MESH:D017622 xref: RDO:0007063 is_a: DOID:9005858 ! Periodontal Atrophy [Term] id: DOID:9004843 name: Familial Horizontal Gaze Palsy with Progressive Scoliosis, 1 def: "HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal. Familial horizontal gaze palsy with progressive scoliosis-1 (HGPPS1) is caused by homozygous or compound heterozygous mutation in the ROBO3 gene on chromosome 11q24. (OMIM)" [] synonym: "HGPPS1" EXACT [] xref: MIM:607313 xref: MONDO:0020790 is_a: DOID:9004787 ! Familial Horizontal Gaze Palsy with Progressive Scoliosis created_by: mtutaj creation_date: 2019-03-26T14:20:32Z [Term] id: DOID:9004844 name: Feingold Syndrome 1 synonym: "FGLDS1" EXACT [] synonym: "MYCN-RELATED CONDITION" EXACT [] xref: MIM:164280 is_a: DOID:0060464 ! Feingold syndrome [Term] id: DOID:9004846 name: Craniosynostosis Mental Retardation Clefting Syndrome alt_id: MIM:218650 xref: MESH:C565663 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:9004847 name: Pseudoaminopterin Syndrome alt_id: MIM:600325 synonym: "Aminopterin syndrome sine aminopterin" EXACT [] xref: MESH:C535823 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004850 name: Epidermolysis Bullosa Simplex 7, with Nephropathy and Deafness alt_id: MIM:609057 synonym: "EBS7" EXACT [] synonym: "nephropathy with pretibial epidermolysis bullosa and deafness" EXACT [] xref: MESH:C563798 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:4644 ! epidermolysis bullosa simplex is_a: DOID:557 ! kidney disease [Term] id: DOID:9004851 name: Severe Acute Malnutrition def: "Acute form of MALNUTRITION which usually affects children, characterized by a very low weight for height (below -3z scores of the median World Health Organization standards), visible severe wasting, or occurrence of nutritional EDEMA. It can be a direct or indirect cause of fatality in children suffering from DIARRHEA and PNEUMONIA. Do not confuse with starvation, a condition in which the body is not getting enough food, usually for extended periods of time." [MESH:D000067011] xref: MESH:D000067011 is_a: DOID:9005695 ! Malnutrition [Term] id: DOID:9004852 name: Sinoatrial Node Dysfunction and Deafness synonym: "CACNA1D-RELATED CONDITION" BROAD [] synonym: "CACNA1D-RELATED DISORDER" BROAD [] synonym: "SANDD" EXACT [] xref: MIM:614896 xref: RDO:9001074 is_a: DOID:9007001 ! Bradycardia is_a: DOID:9008681 ! Deafness [Term] id: DOID:9004853 name: Myopia 6 alt_id: MIM:608908 synonym: "Myopia, susceptibility to" EXACT [] synonym: "MYP6" EXACT [] xref: MESH:C536105 is_a: DOID:11830 ! myopia [Term] id: DOID:9004854 name: Herpes Zoster Ophthalmicus def: "Virus infection of the Gasserian ganglion and its nerve branches characterized by pain and vesicular eruptions with much swelling. Ocular involvement is usually heralded by a vesicle on the tip of the nose. This area is innervated by the nasociliary nerve." [MESH:D006563] synonym: "Ocular Herpes Zoster" EXACT [] synonym: "ophthalmic herpes zoster" EXACT [] xref: EFO:0007403 xref: MESH:D006563 is_a: DOID:8536 ! herpes zoster is_a: DOID:9005295 ! Viral Eye Infections [Term] id: DOID:9004855 name: Simosa Cranio Facial Syndrome alt_id: MIM:182150 synonym: "Simosa craniofacial syndrome" EXACT [] xref: MESH:C537339 is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004856 name: Ethanolaminosis alt_id: MIM:227150 synonym: "Ethanolamine Kinase Deficiency" EXACT [] xref: MESH:C562651 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9003936 ! Cardiomegaly is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:9004857 name: Pyruvate Dehydrogenase E1-Beta Deficiency alt_id: MIM:614111 synonym: "PDHBD" EXACT [] xref: MESH:C566729 is_a: DOID:3649 ! pyruvate decarboxylase deficiency [Term] id: DOID:9004858 name: Progressive Nephropathy with Deafness alt_id: MIM:609469 synonym: "Alport Focal Segmental Glomerulosclerosis-Like Syndrome" EXACT [] synonym: "NEDE" EXACT [] xref: MESH:C563713 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10983 ! Alport syndrome is_a: DOID:783 ! end stage renal disease [Term] id: DOID:9004859 name: Dermoodontodysplasia alt_id: MIM:125640 xref: MESH:C565103 is_a: DOID:421 ! hair disease is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9004860 name: Penttinen-Aula Syndrome alt_id: MIM:601812 synonym: "PENTT" EXACT [] synonym: "Penttinen syndrome" EXACT [] synonym: "premature aging syndrome Penttinen type" EXACT [] xref: MESH:C536653 is_a: DOID:225 ! syndrome is_a: DOID:3911 ! progeria is_a: DOID:9001402 ! Acro-Osteolysis is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9004863 name: Van Bogaert-Hozay Syndrome alt_id: MIM:277150 synonym: "Acro-osteolysis-facial dysplasia syndrome" EXACT [] synonym: "Hozay's syndrome" EXACT [] xref: MESH:C536526 is_a: DOID:0060260 ! ptosis is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:540 ! strabismus is_a: DOID:9001402 ! Acro-Osteolysis is_a: DOID:9004069 ! Pathologic Decalcification is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004864 name: Isodicentric Chromosome 15 Syndrome synonym: "Duplication-Inversion 15q11" EXACT [] synonym: "Idic(15)" EXACT [] synonym: "Inv Dup(15)" EXACT [] synonym: "Inverted Duplication 15" EXACT [] synonym: "Isodicentric Chromosome 15" EXACT [] synonym: "Non-Distal Tetrasomy 15q" EXACT [] xref: MESH:C580205 xref: RDO:0015902 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome [Term] id: DOID:9004865 name: Nuchal Cord def: "A complication of pregnancy in which the UMBILICAL CORD wraps around the fetal neck once or multiple times. In some cases, cord entanglement around fetal neck may not affect pregnancy outcome significantly. In others, the nuchal cord may lead to restricted fetal blood flow, oxygen transport, fetal development, fetal movement, and complicated delivery at birth." [MESH:D053589] synonym: "Double Nuchal Cord" EXACT [] synonym: "Fetal Cord Entanglement" EXACT [] synonym: "Fetal Cord Entanglements" EXACT [] synonym: "Quadruple Nuchal Cord" EXACT [] synonym: "Single Nuchal Cord" EXACT [] synonym: "Triple Nuchal Cord" EXACT [] xref: MESH:D053589 is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9004866 name: Ataxia def: "Impairment of the ability to perform smoothly coordinated voluntary movements. This condition may affect the limbs, trunk, eyes, pharynx, larynx, and other structures. Ataxia may result from impaired sensory or motor function. Sensory ataxia may result from posterior column injury or PERIPHERAL NERVE DISEASES. Motor ataxia may be associated with CEREBELLAR DISEASES; CEREBRAL CORTEX diseases; THALAMIC DISEASES; BASAL GANGLIA DISEASES; injury to the RED NUCLEUS; and other conditions." [MESH:D001259] synonym: "Appendicular Ataxia" EXACT [] synonym: "Appendicular Ataxias" EXACT [] synonym: "Ataxias" EXACT [] synonym: "Ataxy" EXACT [] synonym: "Coordination Impairment" EXACT [] synonym: "Coordination Impairments" EXACT [] synonym: "Coordination Lack" EXACT [] synonym: "Dyscoordination" EXACT [] synonym: "Dyssynergia" EXACT [] synonym: "Incoordination" EXACT [] synonym: "Incoordinations" EXACT [] synonym: "Lack of Coordination" EXACT [] synonym: "Limb Ataxia" EXACT [] synonym: "Limb Ataxias" EXACT [] synonym: "Motor Ataxia" EXACT [] synonym: "Motor Ataxias" EXACT [] synonym: "Rubral Tremor" EXACT [] synonym: "Rubral Tremors" EXACT [] synonym: "Sensory Ataxia" EXACT [] synonym: "Sensory Ataxias" EXACT [] synonym: "Truncal Ataxia" EXACT [] synonym: "Truncal Ataxias" EXACT [] xref: MESH:D001259 is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9004867 name: Retinitis Pigmentosa, Deafness, Mental Retardation, and Hypogonadism alt_id: MIM:268020 xref: MESH:C564841 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9004868 name: Developmental Delay with Variable Intellectual Impairment and Behavioral Abnormalities def: "An autosomal dominant neurodevelopmental disorder." [MIM:618430] synonym: "DDVIBA" EXACT [] synonym: "TCF20-RELATED CONDITION" EXACT [] xref: EFO:0010644 xref: MIM:618430 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2019-07-05T10:02:22Z [Term] id: DOID:9004869 name: Anemia Due To Adenosine Triphosphatase Deficiency xref: GARD:548 xref: MESH:C566311 xref: MONDO:0007066 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:9004870 name: Mengel Konigsmark Syndrome synonym: "Conductive hearing loss and malformed low-set ears" EXACT [] synonym: "Ear deformity and conductive hearing loss" EXACT [] synonym: "Familial congenital moderate neural hearing loss" EXACT [] xref: MESH:C537239 xref: RDO:0003031 is_a: DOID:225 ! syndrome is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9004871 name: Mercury Poisoning, Nervous System def: "Neurologic disorders associated with exposure to inorganic and organic forms of MERCURY. Acute intoxication may be associated with gastrointestinal disturbances, mental status changes, and PARAPARESIS. Chronic exposure to inorganic mercury usually occurs in industrial workers, and manifests as mental confusion, prominent behavioral changes (including psychosis), DYSKINESIAS, and NEURITIS. Alkyl mercury poisoning may occur through ingestion of contaminated seafood or grain, and its characteristic features include POLYNEUROPATHY; ATAXIA; vision loss; NYSTAGMUS, PATHOLOGIC; and DEAFNESS. (From Joynt, Clinical Neurology, 1997, Ch20, pp10-15)" [MESH:D020262] synonym: "Inorganic Mercury Poisoning" EXACT [] synonym: "Mad Hatter's Disease" EXACT [] synonym: "Mad Hatter Disease" EXACT [] synonym: "Mad Hatter Diseases" EXACT [] synonym: "Mad Hatters Disease" EXACT [] synonym: "Mercurial Neuroanesthenia" EXACT [] synonym: "Mercurial Psychosis" EXACT [] synonym: "Mercury Encephalopathy" EXACT [] synonym: "Mercury Induced Nervous System Diseases" EXACT [] synonym: "Mercury Neurotoxicity Syndrome" EXACT [] synonym: "Mercury Neurotoxicity Syndromes" EXACT [] synonym: "Mercury Psychosis" EXACT [] synonym: "Minamata Disease" EXACT [] synonym: "Nervous System Mercurialism" EXACT [] synonym: "Neurologic Mercurialism" EXACT [] synonym: "Neurologic Mercury Poisoning" EXACT [] synonym: "Organic Mercury Poisoning" EXACT [] xref: MESH:D020262 xref: RDO:0004718 is_a: DOID:9001363 ! Heavy Metal Poisoning, Nervous System is_a: DOID:9003709 ! Mercury Poisoning [Term] id: DOID:9004872 name: Congenital Infantile Lactic Acidosis alt_id: RDO:0004070 synonym: "CONGENITAL LACTIC ACIDOSIS" EXACT [] xref: MESH:C538134 is_a: DOID:3650 ! lactic acidosis [Term] id: DOID:9004873 name: Mushroom Poisoning def: "Poisoning from ingestion of mushrooms, primarily from, but not restricted to, toxic varieties." [MESH:D009145] synonym: "Mushroom Poisonings" EXACT [] xref: MESH:D009145 is_a: DOID:9002606 ! Mycotoxicosis is_a: DOID:9006436 ! Foodborne Diseases [Term] id: DOID:9004874 name: Dermal Fibrosis def: "A pathological condition where fibrous connective tissue invades the skin, usually as a consequence of inflammation or other injury." [] xref: RDO:9000104 is_a: DOID:37 ! skin disease is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:9004876 name: Multinodular Goiter 3 alt_id: MIM:606082 synonym: "MNG3" EXACT [] xref: MESH:C565260 is_a: DOID:0050489 ! multinodular goiter [Term] id: DOID:9004877 name: Autosomal Dominant Tubulointerstitial Kidney Disease 5 synonym: "ADTKD5" EXACT [] synonym: "familial juvenile hyperuricemic nephropathy 4" EXACT [] synonym: "HNFJ4" EXACT [] xref: MIM:617056 is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy [Term] id: DOID:9004878 name: L-Ferritin Deficiency synonym: "L-FERRITIN DEFICIENCY, AUTOSOMAL RECESSIVE" NARROW [] synonym: "LFTD" EXACT [] xref: MIM:615604 is_a: DOID:2351 ! iron metabolism disease [Term] id: DOID:9004879 name: Mediastinal Fibrosis synonym: "Fibrosing mediastinitis" EXACT [] synonym: "Idiopathic mediastinal fibrosis" EXACT [] synonym: "Sclerosing mediastinitis" EXACT [] xref: MESH:C536136 is_a: DOID:819 ! mediastinitis is_a: DOID:9007896 ! Sclerosis [Term] id: DOID:9004880 name: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA synonym: "CAGSSS" EXACT [] xref: MIM:616007 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:83 ! cataract [Term] id: DOID:9004881 name: Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy synonym: "IDDSAPN" EXACT [] xref: MIM:619099 is_a: DOID:1059 ! intellectual disability is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9005466 ! Language Development Disorders created_by: mtutaj creation_date: 2020-11-23T16:02:38Z [Term] id: DOID:9004882 name: Waaler Aarskog Syndrome xref: MESH:C536461 xref: RDO:0002053 is_a: DOID:0060249 ! scoliosis is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome [Term] id: DOID:9004883 name: Pilonidal Sinus alt_id: MIM:173000 alt_id: OMIA:000272 def: "A hair-containing cyst or sinus, occurring chiefly in the coccygeal region." [MESH:D010864] synonym: "Dermoid sinus" NARROW [] synonym: "pilonidal cyst" EXACT [] synonym: "pilonidal cysts" EXACT [] xref: MESH:D010864 is_a: DOID:9007583 ! Cysts [Term] id: DOID:9004884 name: Esophageal Cyst def: "Any fluid-filled closed cavity or sac (CYSTS) that is lined by an EPITHELIUM and found in the ESOPHAGUS region." [MESH:D004934] synonym: "Esophageal Cysts" EXACT [] xref: MESH:D004934 xref: RDO:0005537 is_a: DOID:6050 ! esophageal disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:9004885 name: Familial Azotemia alt_id: MIM:109160 xref: MESH:C566233 is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:9004886 name: Tumor Virus Infections def: "Infections produced by oncogenic viruses. The infections caused by DNA viruses are less numerous but more diverse than those caused by the RNA oncogenic viruses." [MESH:D014412] synonym: "Shope Fibroma" EXACT [] synonym: "Shope Papilloma" EXACT [] synonym: "Tumor Virus Infection" EXACT [] xref: MESH:D014412 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9004887 name: Annular Epidermolytic Ichthyosis 1 def: "A disease characterized by the development of widespread erythematous blistering in the neonatal period or early childhood that subsides over time. Caused by heterozygous mutation in the keratin-10 gene (KRT10)." [MIM:607602] synonym: "AEI1" EXACT [] synonym: "CIEHK1" EXACT [] xref: MIM:607602 is_a: DOID:9005778 ! Annular Epidermolytic Ichthyosis [Term] id: DOID:9004888 name: Parietal Foramina 1 alt_id: MIM:168500 synonym: "PFM1" EXACT [] xref: MESH:C566827 is_a: DOID:0060285 ! parietal foramina [Term] id: DOID:9004889 name: Cerebral Ventriculitis def: "Inflammation of CEREBRAL VENTRICLES." [MESH:D058565] synonym: "Cerebral Ventriculitides" EXACT [] synonym: "Infectious Ventriculitides" EXACT [] synonym: "Infectious Ventriculitis" EXACT [] xref: MESH:D058565 is_a: DOID:9003736 ! Central Nervous System Viral Diseases is_a: DOID:9588 ! encephalitis [Term] id: DOID:9004890 name: Paranoid Disorders def: "Chronic mental disorders in which there has been an insidious development of a permanent and unshakeable delusional system (persecutory delusions or delusions of jealousy), accompanied by preservation of clear and orderly thinking. Emotional responses and behavior are consistent with the delusional state." [MESH:D010259] synonym: "Paranoia" EXACT [] synonym: "Paranoias" EXACT [] synonym: "Paranoid Disorder" EXACT [] synonym: "Paranoid Psychoses" EXACT [] xref: MESH:D010259 xref: RDO:0006285 is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders [Term] id: DOID:9004891 name: Spranger Schinzel Myers Syndrome synonym: "Arthromyodysplasia, dyscephaly, sacral agenesis, and hypoplastic digits" EXACT [] synonym: "Cerebroarthrodigital syndrome" EXACT [] xref: MESH:C535801 is_a: DOID:0080006 ! bone development disease is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome [Term] id: DOID:9004892 name: Familial Acanthosis Nigricans xref: MESH:C531598 xref: RDO:0000009 is_a: DOID:3138 ! acanthosis nigricans [Term] id: DOID:9004893 name: Head and Neck Paraganglioma def: "This is a benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." [NCI:C5327] synonym: "craniocervical region paragangliom" EXACT [] synonym: "HNP" EXACT [] synonym: "HNPGL" EXACT [] xref: EFO:1000288 is_a: DOID:0050773 ! paraganglioma created_by: slaulede creation_date: 2023-02-03T17:21:38Z [Term] id: DOID:9004894 name: Lethal Muscular Hypertonia alt_id: MIM:254120 xref: MESH:C564982 is_a: DOID:9008941 ! Muscle Hypertonia [Term] id: DOID:9004895 name: Chromosome 14, Trisomy Mosaic synonym: "Trisomy 14 mosaic" EXACT [] synonym: "Trisomy 14 mosaicism" EXACT [] synonym: "Trisomy 14 mosaicism syndrome" EXACT [] xref: MESH:C535489 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9004896 name: Primary Lateral Sclerosis Juvenile alt_id: MIM:606353 synonym: "PLSJ" EXACT [] synonym: "PLS, JUVENILE" EXACT [] xref: MESH:C536416 xref: RDO:0002002 is_a: DOID:231 ! motor neuron disease [Term] id: DOID:9004897 name: X-Linked Tetra-Amelia xref: MESH:C536497 xref: RDO:0002099 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9004898 name: Jaundice def: "A clinical manifestation of HYPERBILIRUBINEMIA, characterized by the yellowish staining of the SKIN; MUCOUS MEMBRANE; and SCLERA. Clinical jaundice usually is a sign of LIVER dysfunction." [MESH:D007565] synonym: "Hemolytic Jaundice" EXACT [] synonym: "Hemolytic Jaundices" EXACT [] synonym: "Icterus" EXACT [] xref: MESH:D007565 is_a: DOID:2741 ! bilirubin metabolic disorder is_a: DOID:9007472 ! Skin Manifestations [Term] id: DOID:9004899 name: Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss synonym: "Axenfeld-Rieger anomaly with atrial septal defect and sensorineural hearing loss" EXACT [] xref: MESH:C537789 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:14686 ! Axenfeld-Rieger syndrome is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004900 name: Mesomelic Dwarfism Reinhardt Pfeiffer Type alt_id: MIM:191400 synonym: "hypoplasia of ulna and fibula" EXACT [] synonym: "mesomelic dwarfism of hypoplastic ulna and fibula type" EXACT [] synonym: "Reinhardt-Pfeiffer mesomelic dysplasia" EXACT [] synonym: "Reinhardt-Pfeiffer mesomelic skeletal dysplasia" EXACT [] synonym: "Reinhardt Pfeiffer syndrome" EXACT [] xref: MESH:C537349 is_a: DOID:9007661 ! Dwarfism is_a: DOID:9009006 ! Mesomelic Dysplasia [Term] id: DOID:9004901 name: Impaired intellectual development, anterior maxillary protrusion, and strabismus synonym: "INTELLECTUAL DISABILITY, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS" EXACT [] synonym: "MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS" EXACT [] synonym: "MRAMS" EXACT [] xref: MIM:613671 xref: MONDO:0013353 xref: ORDO:562559 is_a: DOID:1059 ! intellectual disability is_a: DOID:540 ! strabismus is_a: DOID:9000066 ! Jaw Abnormalities [Term] id: DOID:9004902 name: Poultry Diseases def: "Diseases of birds which are raised as a source of meat or eggs for human consumption and are usually found in barnyards, hatcheries, etc. The concept is differentiated from BIRD DISEASES which is for diseases of birds not considered poultry and usually found in zoos, parks, and the wild." [MESH:D011201] synonym: "Poultry Disease" EXACT [] xref: MESH:D011201 is_a: DOID:9006114 ! Bird Diseases [Term] id: DOID:9004903 name: Focal Cortical Dysplasia of Taylor, Type IIA synonym: "CDTD" EXACT [] synonym: "Cortical Dysplasia of Taylor, Dysplasia Only" EXACT [] synonym: "Cortical Dysplasia of Taylor without Balloon Cells" EXACT [] synonym: "FCD2A" EXACT [] synonym: "FCD IIA" EXACT [] synonym: "FCORD2A" EXACT [] synonym: "FOCAL CORTICAL DYSPLASIA, TYPE IIA" EXACT [] xref: MESH:C564583 is_a: DOID:9008426 ! Focal Cortical Dysplasia of Taylor [Term] id: DOID:9004904 name: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES xref: MIM:615789 xref: RDO:9001278 is_a: DOID:10907 ! microcephaly is_a: DOID:9001487 ! Facies is_a: DOID:9007661 ! Dwarfism created_by: rgd creation_date: 2016-10-18T00:00:00Z [Term] id: DOID:9004905 name: Lethal Congenital Neutropenia with Eosinophilia alt_id: MIM:257100 xref: MESH:C564943 is_a: DOID:1227 ! neutropenia is_a: DOID:9001371 ! Eosinophilia [Term] id: DOID:9004906 name: Congenital Bone Marrow Failure Syndromes def: "Inherited syndromes characterized by deficiency or absence of various blood cells due to mutations that affect HEMATOPOIETIC STEM CELLS development and proliferation. (MESH)" [] synonym: "CBMFS" EXACT [] synonym: "IBMFS" EXACT [] synonym: "Inherited BMF Syndromes" EXACT [] synonym: "inherited bone marrow failure syndrome" EXACT [] synonym: "Inherited Bone Marrow Failure Syndromes" EXACT [] xref: MESH:D000080984 is_a: DOID:225 ! syndrome is_a: DOID:9007222 ! Bone Marrow Failure Disorders created_by: mtutaj creation_date: 2020-01-30T11:46:28Z [Term] id: DOID:9004907 name: Metaphyseal Chondrodysplasia, Spahr Type alt_id: MIM:250400 synonym: "MDST" EXACT [] synonym: "METAPHYSEAL DYSPLASIA, SPAHR TYPE" EXACT [] synonym: "MMP13-RELATED CONDITION" BROAD [] xref: MESH:C537353 is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia [Term] id: DOID:9004908 name: Optic Atrophy 16 def: "An autosomal recessive disorder characterized by a Leber hereditary optic neuropathy (LHON)-like isolated optic neuropathy and mild sensorineural hearing impairment. Caused by homozygous mutation in the MECR gene on chromosome 1p35." [MIM:620629] synonym: "OPA16" EXACT [] xref: MIM:620629 is_a: DOID:9005850 ! Hereditary Optic Atrophies created_by: tutajm creation_date: 2023-12-04T12:48:02Z [Term] id: DOID:9004909 name: Immunodeficiency 80 synonym: "IMD80" EXACT [] synonym: "immunodeficiency-80 with or without congenital cardiomyopathy" EXACT [] synonym: "MCM10 deficiency" EXACT [] xref: MIM:619313 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-05-12T15:10:31Z [Term] id: DOID:9004910 name: Hereditary Macular Coloboma synonym: "agenesis of macula" EXACT [] synonym: "coloboma of macula" EXACT [] synonym: "macular coloboma" EXACT [] xref: MESH:C535968 is_a: DOID:12270 ! coloboma [Term] id: DOID:9004911 name: Thymus Hyperplasia def: "Enlargement of the thymus. A condition described in the late 1940's and 1950's as pathological thymic hypertrophy was status thymolymphaticus and was treated with radiotherapy. Unnecessary removal of the thymus was also practiced. It later became apparent that the thymus undergoes normal physiological hypertrophy, reaching a maximum at puberty and involuting thereafter. The concept of status thymolymphaticus has been abandoned. Thymus hyperplasia is present in two thirds of all patients with myasthenia gravis. (From Segen, Dictionary of Modern Medicine, 1992; Cecil Textbook of Medicine, 19th ed, p1486)" [MESH:D013952] synonym: "Hyperplasia of Thymus Gland" EXACT [] synonym: "Thymic Hyperplasia" EXACT [] synonym: "Thymic Hyperplasias" EXACT [] synonym: "Thymus Gland Hyperplasia" EXACT [] synonym: "Thymus Gland Hyperplasias" EXACT [] xref: EFO:1001860 xref: MESH:D013952 is_a: DOID:533 ! thymus gland disease [Term] id: DOID:9004912 name: Hyperoxaluria def: "Excretion of an excessive amount of OXALATES in the urine." [MESH:D006959] synonym: "oxalosis" EXACT [] synonym: "oxaluria" EXACT [] xref: MESH:D006959 is_a: DOID:557 ! kidney disease [Term] id: DOID:9004913 name: ACCES Syndrome synonym: "ACCES" EXACT [] synonym: "aplasia cutis congenita with ectrodactyly skeletal syndrome" EXACT [] xref: MIM:619959 is_a: DOID:2121 ! ectodermal dysplasia created_by: mtutaj creation_date: 2022-08-29T11:24:54Z [Term] id: DOID:9004914 name: Postmenopausal Osteoporosis alt_id: RDO:0006911 def: "Metabolic disorder associated with fractures of the femoral neck, vertebrae, and distal forearm. It occurs commonly in women within 15-20 years after menopause, and is caused by factors associated with menopause including estrogen deficiency." [MESH:D015663] synonym: "perimenopausal bone loss" EXACT [] synonym: "perimenopausal bone losses" EXACT [] synonym: "Postmenopausal Bone Loss" EXACT [] synonym: "Postmenopausal Bone Losses" EXACT [] synonym: "Post-Menopausal Osteoporoses" EXACT [] synonym: "postmenopausal osteoporoses" EXACT [] synonym: "post-menopausal osteoporosis" EXACT [] xref: EFO:0003854 xref: MESH:D015663 is_a: DOID:11476 ! osteoporosis [Term] id: DOID:9004915 name: Decreased Urinary Activity of Kallikrein alt_id: MIM:615953 xref: MESH:C563653 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9004916 name: Morton Neuroma def: "A nerve inflammation in the foot caused by chronic compression of the plantar nerve between the METATARSAL BONES." [MESH:D000070607] synonym: "Intermetatarsal Neuroma" EXACT [] synonym: "Intermetatarsal Neuromas" EXACT [] synonym: "Morton's Disease" EXACT [] synonym: "Morton's Metatarsalgia" EXACT [] synonym: "Morton's Neuralgia" EXACT [] synonym: "Morton's Neuroma" EXACT [] synonym: "Morton Disease" EXACT [] synonym: "Morton Metatarsalgia" EXACT [] synonym: "Morton Neuralgia" EXACT [] synonym: "Mortons Disease" EXACT [] synonym: "Mortons Metatarsalgia" EXACT [] synonym: "Mortons Neuralgia" EXACT [] synonym: "Mortons Neuroma" EXACT [] xref: EFO:0010582 xref: MESH:D000070607 is_a: DOID:9005968 ! Neuralgia is_a: DOID:9008541 ! Metatarsalgia [Term] id: DOID:9004917 name: White Muscle Disease def: "A myodegeneration most frequent in calves and lambs whose dams have been fed during gestation or longer on feeds, especially legumes (FABACEAE), grown in certain areas where selenium is either deficient or unavailable in the soil. It has been recorded in many countries. It has been produced experimentally in several species of animals on low-selenium intake. A similar myopathy occurs naturally in goats, deer, foals, and dogs but proof of the etiology is lacking. (Merck Veterinary Manual, 5th ed)" [MESH:D014912] synonym: "White Muscle Diseases" EXACT [] xref: MESH:D014912 xref: RDO:0006826 is_a: DOID:9000887 ! Muscular Dystrophy, Animal [Term] id: DOID:9004918 name: Menstruation Disturbances def: "Variations of menstruation which may be indicative of disease." [MESH:D008599] synonym: "Hypomenorrhea" EXACT [] synonym: "Hypomenorrheas" EXACT [] synonym: "Menstruation Disorder" EXACT [] synonym: "Menstruation Disorders" EXACT [] synonym: "Menstruation Disturbance" EXACT [] synonym: "Polymenorrhea" EXACT [] synonym: "Polymenorrheas" EXACT [] synonym: "Retrograde Menstruation" EXACT [] synonym: "Retrograde Menstruations" EXACT [] xref: MESH:D008599 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9004919 name: Perinatal Lethal Hypophosphatasia xref: MESH:C567107 is_a: DOID:14213 ! hypophosphatasia [Term] id: DOID:9004920 name: Porokeratosis, Disseminated Superficial Actinic, 3 alt_id: MIM:612293 def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK5 maps to chromosome 1p31. (OMIM)" [] synonym: "DSAP3" EXACT [] synonym: "POROK5" EXACT [] synonym: "POROKERATOSIS 5, DISSEMINATED SUPERFICIAL ACTINIC TYPE" EXACT [] xref: MESH:C567356 is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9004921 name: Schisis Association synonym: "Midline development field defects" EXACT [] xref: GARD:246 xref: MESH:C536633 xref: MONDO:0018976 xref: ORDO:63862 is_a: DOID:9006534 ! Nervous System Malformations [Term] id: DOID:9004922 name: Spinal Cord Ischemia def: "Reduced blood flow to the spinal cord which is supplied by the anterior spinal artery and the paired posterior spinal arteries. This condition may be associated with ARTERIOSCLEROSIS, trauma, emboli, diseases of the aorta, and other disorders. Prolonged ischemia may lead to INFARCTION of spinal cord tissue." [MESH:D020760] synonym: "Experimental Spinal Cord Ischemia" EXACT [] synonym: "Ischemic Myelopathies" EXACT [] synonym: "Ischemic Myelopathy" EXACT [] synonym: "Spinal Cord Ischemias" EXACT [] xref: EFO:1001426 xref: MESH:D020760 xref: RDO:0003675 is_a: DOID:9006308 ! Spinal Cord Vascular Diseases [Term] id: DOID:9004923 name: Delpire-McNeill Syndrome def: "A neurodevelopmental disorder with highly variable manifestations. Patients present in infancy with global developmental delay, including motor, speech, and impaired intellectual development. (OMIM)" [] synonym: "DELMNES" EXACT [] xref: MIM:619083 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2020-11-10T14:13:36Z [Term] id: DOID:9004924 name: Combined Pituitary Hormone Deficiency 3 synonym: "combined pituitary hormone deficiency with rigid cervical spine" EXACT [] synonym: "CPHD3" EXACT [] synonym: "LHX3-RELATED CONDITION" EXACT [] synonym: "Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome" EXACT [] synonym: "Sensorineural deafness with Pituitary dwarfism" EXACT [] synonym: "Winkelman-Bethge-Pfeiffer syndrome" EXACT [] xref: GARD:10603 xref: MESH:C536710 xref: MIM:221750 xref: MONDO:0009091 xref: ORDO:231720 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9410 ! panhypopituitarism [Term] id: DOID:9004925 name: Mitochondrial Myopathy with a Defect in Mitochondrial Protein Transport alt_id: MIM:251945 xref: MESH:C565376 is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:9004926 name: Chromosome 22, Microdeletion 22 q11 synonym: "Microdeletion 22 q11" EXACT [] xref: MESH:C536797 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9004927 name: Stomatocytosis II xref: MESH:C566110 xref: RDO:0014567 is_a: DOID:589 ! congenital hemolytic anemia is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9006795 ! Acid-Base Imbalance [Term] id: DOID:9004928 name: Chromosome 7, Monosomy synonym: "Monosomy 7" EXACT [] xref: MESH:C537814 xref: RDO:0003718 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9004929 name: Congenital Hypodysfibrinogenemia alt_id: RDO:0014466 synonym: "fibrinogen Baltimore 2" RELATED [] synonym: "FIBRINOGEN CHRISTCHURCH 2" RELATED [] synonym: "FIBRINOGEN HAIFA 1" RELATED [] synonym: "FIBRINOGEN LONGMONT" RELATED [] synonym: "FIBRINOGEN NIJMEGEN" RELATED [] synonym: "fibrinogen Philadelphia" RELATED [] synonym: "FIBRINOGEN ROUEN 1" RELATED [] synonym: "FIBRINOGEN TOKYO 2" RELATED [] synonym: "Hypodysfibrinogenemia" EXACT [] xref: MESH:C565970 is_a: DOID:9003464 ! Congenital Dysfibrinogenemia [Term] id: DOID:9004930 name: Spinal Muscular Atrophy, Facioscapulohumeral Type alt_id: MIM:182970 synonym: "FSHSMA" EXACT [] xref: MESH:C566674 is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:9004931 name: Coagulation Protein Disorders alt_id: DOID:2212 def: "Hemorrhagic and thrombotic disorders resulting from abnormalities or deficiencies of coagulation proteins." [MESH:D020147] synonym: "blood coagulation factor deficiencies" EXACT [] synonym: "coagulation protein disease" EXACT [] synonym: "Coagulation Protein Disorder" EXACT [] synonym: "Coagulation Protein Disorders" EXACT [] synonym: "coagulation proteins disorder" EXACT [] xref: MESH:D020147 is_a: DOID:1247 ! blood coagulation disease created_by: mtutaj creation_date: 2020-07-24T07:59:08Z [Term] id: DOID:9004932 name: Eales Disease synonym: "Idiopathic obliterative vasculopathy" EXACT [] synonym: "Idiopathic recurrent vitreal hemorrhage" EXACT [] xref: MESH:C538011 xref: RDO:0003941 is_a: DOID:11563 ! retinal vasculitis is_a: DOID:9003204 ! Neovascularization, Pathologic [Term] id: DOID:9004933 name: Idiopathic Basal Ganglia Calcification 5 alt_id: RDO:9000962 synonym: "IBGC5" EXACT [] xref: MIM:615483 is_a: DOID:0060230 ! basal ganglia calcification [Term] id: DOID:9004934 name: BILATERAL CLEFT LIP def: "A non-midline cleft of the upper lip on the left and right side." [HP:0100336] synonym: "Bilateral cheiloschisis" EXACT [] synonym: "Both sided cleft lip" EXACT [] synonym: "Right and left cleft lip" EXACT [] is_a: DOID:9296 ! cleft lip created_by: slaulede creation_date: 2020-07-06T14:43:48Z [Term] id: DOID:9004935 name: Thiourea Tasting synonym: "PHENYLTHIOCARBAMIDE TASTING" NARROW [] synonym: "PROP TASTING" NARROW [] synonym: "PROPYLTHIOURACIL TASTING" NARROW [] synonym: "PTC TASTING" NARROW [] xref: MIM:171200 is_a: DOID:9001661 ! Taste Disorders [Term] id: DOID:9004937 name: Aldred Syndrome synonym: "nonspecific mental retardation associated with retinitis pigmentosa" EXACT [] synonym: "X-linked mental handicap-retinitis pigmentosa syndrome" EXACT [] xref: MESH:C537046 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9004938 name: Eye Hemorrhage def: "Intraocular hemorrhage from the vessels of various tissues of the eye." [MESH:D005130] synonym: "Eye Hemorrhages" EXACT [] synonym: "Hemophthalmos" EXACT [] xref: EFO:0008627 xref: MESH:D005130 is_a: DOID:5614 ! eye disease is_a: DOID:9001020 ! Eye Manifestations is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9004939 name: Leigh Necrotizing Encephalopathy due to Pyruvate Carboxylase Deficiency synonym: "Leigh syndrome due to pyruvate carboxylase deficiency" EXACT [] xref: MESH:C536255 is_a: DOID:3651 ! pyruvate carboxylase deficiency disease is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9004940 name: Akesson Syndrome alt_id: MIM:304200 synonym: "Cutis verticis gyrata, thyroaplasia and mental deficiency syndrome" EXACT [] synonym: "Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation" EXACT [] synonym: "Cutis verticis gyrata-thyroid aplasia-mental retardation syndrome" EXACT [] xref: MESH:C535610 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:3136 ! scalp dermatosis is_a: DOID:50 ! thyroid gland disease [Term] id: DOID:9004941 name: Nonsyndromic Holoprosencephaly synonym: "Isolated Holoprosencephaly" EXACT [] synonym: "Isolated Hpe" EXACT [] synonym: "Nonsyndromic Hpe" EXACT [] synonym: "Non-Syndromic, Non-Chromosomal Holoprosencephaly" EXACT [] synonym: "Non-Syndromic, Non-Chromosomal Hpe" EXACT [] xref: MESH:C580335 xref: RDO:0015913 is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:9004942 name: Niemann-Pick Disease, Intermediate, Protracted Neurovisceral xref: MESH:C567268 is_a: DOID:0070111 ! Niemann-Pick disease type A [Term] id: DOID:9004943 name: Chromosome 10, Trisomy 10pter p13 synonym: "Duplication 10pter p13" EXACT [] synonym: "Trisomy 10pter p13" EXACT [] xref: MESH:C538291 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9004944 name: Tachycardia, Sinoatrial Nodal Reentry def: "Abnormally rapid heartbeats caused by reentry circuit in or around the SINOATRIAL NODE. It is characterized by sudden onset and offset episodes of tachycardia with a HEART RATE of 100-150 beats per minute. The P wave is identical to the sinus P wave but with a longer PR interval." [MESH:D013615] synonym: "Sinus Node Reentrant Tachycardia" EXACT [] synonym: "Tachycardia, SA Nodal Reentrant" EXACT [] xref: EFO:1001843 xref: MESH:D013615 is_a: DOID:9007178 ! Reciprocating Tachycardia [Term] id: DOID:9004945 name: Ocular Toxoplasmosis def: "Infection caused by the protozoan parasite TOXOPLASMA in which there is extensive connective tissue proliferation, the retina surrounding the lesions remains normal, and the ocular media remain clear. Chorioretinitis may be associated with all forms of toxoplasmosis, but is usually a late sequel of congenital toxoplasmosis. The severe ocular lesions in infants may lead to blindness." [MESH:D014126] synonym: "ocular toxoplasmoses" EXACT [] xref: EFO:0007399 xref: MESH:D014126 is_a: DOID:9004432 ! Parasitic Eye Infections is_a: DOID:9965 ! toxoplasmosis [Term] id: DOID:9004946 name: Leptin Receptor Deficiency def: "Leptin receptor deficiency is characterized by severe early-onset obesity, major hyperphagia, hypogonadotropic hypogonadism, and neuroendocrine/metabolic dysfunction. LEPRD is caused by homozygous mutation in the LEPR gene on chromosome 1p31." [MIM:614963] synonym: "LEPR-RELATED CONDITION" EXACT [] synonym: "LEPR-RELATED DISORDERS" EXACT [] synonym: "Morbid Obesity, Nonsyndromic 2" EXACT [] xref: MIM:614963 is_a: DOID:11981 ! morbid obesity is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9004947 name: hippocampal atrophy def: "This is a decrease in the size of the hippocampus as a result of some external stress or disease." [EFO:0005039] synonym: "atrophy of hippocampus" EXACT [] xref: EFO:0005039 is_a: DOID:9004462 ! Atrophy is_a: DOID:936 ! brain disease created_by: slaulede creation_date: 2023-01-19T10:43:26Z [Term] id: DOID:9004948 name: Glaucoma and Sleep Apnea alt_id: MIM:137763 xref: MESH:C564232 is_a: DOID:0050847 ! sleep apnea is_a: DOID:1686 ! glaucoma [Term] id: DOID:9004949 name: Merlob Grunebaum Reisner Syndrome xref: MESH:C537461 is_a: DOID:225 ! syndrome is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital [Term] id: DOID:9004950 name: Panic Disorder with Bladder Conditions xref: MESH:C566834 is_a: DOID:365 ! bladder disease is_a: DOID:594 ! panic disorder [Term] id: DOID:9004951 name: breast pleomorphic carcinoma def: "This is a rare, aggressive, high grade invasive ductal carcinoma, not otherwise specified. It is characterized by the presence of pleomorphic and bizarre malignant cells that constitute more than 50 percent of the malignant cellular infiltrate." [NCI:C5161] synonym: "Anaplastic Breast Carcinoma" EXACT [] synonym: "pleomorphic breast carcinoma" EXACT [] xref: EFO:1000047 xref: EFO:1000482 xref: NCI:C5161 is_a: DOID:3008 ! invasive ductal carcinoma created_by: slaulede creation_date: 2022-10-06T09:59:36Z [Term] id: DOID:9004952 name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT AUTISM OR SEIZURES def: "This is a disease characterized by global developmental delay apparent in infancy, impaired intellectual development, and speech delay." [MIM:619239] synonym: "CUL3-RELATED CONDITION" BROAD [] synonym: "CUL3-RELATED DISORDER" BROAD [] synonym: "NEDAUS" EXACT [] xref: MIM:619239 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-02-11T17:43:42Z [Term] id: DOID:9004953 name: Diabetic Cystopathy synonym: "diabetic bladder" EXACT [] synonym: "diabetic bladder dysfunction" EXACT [] is_a: DOID:365 ! bladder disease is_a: DOID:9002661 ! Diabetes Complications created_by: rgd creation_date: 2015-07-14T00:00:00Z [Term] id: DOID:9004954 name: Neutrophil Actin Dysfunction xref: MESH:C564942 xref: MIM:257150 xref: MONDO:0009755 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9004955 name: Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip/Palate alt_id: MIM:615465 synonym: "Hartsfield Syndrome" EXACT [] synonym: "HRTFDS" EXACT [] xref: MESH:C564484 is_a: DOID:1059 ! intellectual disability is_a: DOID:4621 ! holoprosencephaly is_a: DOID:674 ! cleft palate is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9004934 ! BILATERAL CLEFT LIP [Term] id: DOID:9004956 name: Nocturnal Enuresis alt_id: MIM:600631 def: "Involuntary discharge of URINE during sleep at night after expected age of completed development of urinary control." [MESH:D053206] synonym: "Bedwetting" EXACT [] synonym: "ENUR1" EXACT [] synonym: "ENURESIS, NOCTURNAL, 1" EXACT [] synonym: "Nighttime Urinary Incontinence" EXACT [] xref: MESH:D053206 xref: RDO:0007612 is_a: DOID:9008268 ! Enuresis [Term] id: DOID:9004957 name: Porokeratosis, Disseminated Superficial Actinic, 4 alt_id: MIM:607728 def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members as well as individuals expressing more than one variant have been reported, suggesting that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK4 maps to chromosome 15q25-q26. (OMIM)" [] synonym: "disseminated superficial actinic porokeratosis 2" EXACT [] synonym: "DSAP2" EXACT [] synonym: "DSAP4" EXACT [] synonym: "POROK4" EXACT [] synonym: "POROKERATOSIS 4, DISSEMINATED SUPERFICIAL ACTINIC TYPE" EXACT [] synonym: "type 2 punctate PPK" EXACT [] xref: MESH:C567339 is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9004958 name: Idiopathic Generalized Epilepsy 16 synonym: "EIG16" EXACT [] synonym: "idiopathic generalized epilepsy, susceptibility to, 16" EXACT [] xref: MIM:618596 is_a: DOID:1827 ! idiopathic generalized epilepsy created_by: mtutaj creation_date: 2019-09-27T08:50:30Z [Term] id: DOID:9004959 name: African Degenerative Visceral Leiomyopathy def: "A distinctive visceral myopathy with onset in childhood. It presents as intestinal pseudoobstruction with a massive megacolon due to degeneration of smooth muscle without aganglionosis. (OMIM)" [] synonym: "ADL" EXACT [] xref: MIM:619400 is_a: DOID:0080072 ! intestinal pseudo-obstruction created_by: mtutaj creation_date: 2021-07-16T15:53:40Z [Term] id: DOID:9004960 name: Chronic Anterior Uveitis def: "A course of anterior uveitis lasting more than a few months." [] is_a: DOID:1407 ! anterior uveitis [Term] id: DOID:9004962 name: Capsule Opacification def: "Clouding or loss of transparency of the posterior lens capsule, usually following CATARACT extraction." [MESH:D058442] synonym: "Capsule Opacifications" EXACT [] synonym: "Secondary Cataract" EXACT [] synonym: "Secondary Cataracts" EXACT [] xref: MESH:D058442 is_a: DOID:83 ! cataract [Term] id: DOID:9004963 name: Hematemesis def: "Vomiting of blood that is either fresh bright red, or older 'coffee-ground' in character. It generally indicates bleeding of the UPPER GASTROINTESTINAL TRACT." [MESH:D006396] synonym: "Hematemeses" EXACT [] xref: MESH:D006396 is_a: DOID:9008385 ! Vomiting is_a: DOID:9008975 ! Gastrointestinal Hemorrhage [Term] id: DOID:9004964 name: Referred Pain def: "A type of pain that is perceived in an area away from the site where the pain arises, such as facial pain caused by lesion of the VAGUS NERVE, or throat problem generating referred pain in the ear." [MESH:D053591] synonym: "Referred Facial Pain" EXACT [] xref: MESH:D053591 is_a: DOID:9000641 ! Pain [Term] id: DOID:9004965 name: opiate withdrawal syndrome def: "This disorder is defined by signs and symptoms related to abrupt or gradual stoppage of opiate use. The signs and symptoms include strong cravings, sweating, nausea, vomiting, irritation, anxiety, muscle pain, dilated pupils and insomnia." [NCI:C98998] synonym: "heroin withdrawal syndrome" NARROW [] synonym: "narcotic withdrawal syndrome" EXACT [] synonym: "opiate withdrawal disorder" EXACT [] synonym: "opioid withdrawal syndrome" EXACT [] is_a: DOID:0060001 ! withdrawal disorder is_a: DOID:9004719 ! Narcotic-Related Disorders created_by: slaulederkind creation_date: 2024-02-27T16:46:48Z [Term] id: DOID:9004966 name: Complex Cortical Dysplasia with Other Brain Malformations 12 def: "This disease is an autosomal recessive disorder of developmental neuronal migration characterized by severe to profound neurodevelopmental delay with absent speech, central hypotonia, peripheral spasticity, cortical visual impairment, and dysmorphic craniofacial features. Caused by homozygous or compound heterozygous mutations in the CAMSAP1 gene on chromosome 9q34." [MIM:620316] synonym: "CAMSAP1-RELATED NEURONAL MIGRATION DISORDER" EXACT [] synonym: "CDCBM12" EXACT [] synonym: "CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 12" EXACT [] xref: MIM:620316 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: mtutaj creation_date: 2023-04-10T08:59:42Z [Term] id: DOID:9004967 name: IGHM Protein, Human synonym: "BOT heavy chain disease protein, human" EXACT [] synonym: "immunoglobulin heavy constant mu protein, human" EXACT [] xref: MESH:C041229 xref: RDO:0000004 is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:9004968 name: Yin Deficiency def: "In the YIN-YANG system of philosophy and medicine, an insufficiency of body fluid (called yinxu), manifesting often as irritability, thirst, constipation, etc. (The Pinyin Chinese-English Dictionary, 1979)." [MESH:D016710] synonym: "Yin Deficiencies" EXACT [] synonym: "Yin Hsu" EXACT [] synonym: "Yin Xu" EXACT [] synonym: "Yinxu" EXACT [] xref: MESH:D016710 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9004969 name: Neoplasm Recurrence, Local def: "The local recurrence of a neoplasm following treatment. It arises from microscopic cells of the original neoplasm that have escaped therapeutic intervention and later become clinically visible at the original site." [MESH:D009364] synonym: "Local Neoplasm Recurrences" EXACT [] synonym: "Locoregional Neoplasm Recurrence" EXACT [] synonym: "Locoregional Neoplasm Recurrences" EXACT [] xref: MESH:D009364 xref: RDO:0006193 is_a: DOID:9008192 ! Neoplastic Processes [Term] id: DOID:9004970 name: Distal Renal Tubular Acidosis 1 synonym: "autosomal dominant distal renal tubular acidosis" EXACT [] synonym: "autosomal dominant renal tubular acidosis" EXACT [] synonym: "classic distal renal tubular acidosis" EXACT [] synonym: "classic type RTA" EXACT [] synonym: "distal renal tubular acidosis, dominant" EXACT [] synonym: "distal type RTA, autosomal dominant" EXACT [] synonym: "Gradient Type RTA" EXACT [] synonym: "renal tubular acidosis 1" EXACT [] synonym: "renal tubular acidosis I" EXACT [] synonym: "type I renal tubular acidosis" EXACT [] xref: MIM:179800 is_a: DOID:9007406 ! Distal Renal Tubular Acidosis created_by: mtutaj creation_date: 2020-08-31T19:43:11Z [Term] id: DOID:9004971 name: Right Ventricle Hypoplasia alt_id: MIM:277200 synonym: "hypoplasia of the right ventricle" EXACT [] synonym: "Isolated hypoplasia of the right ventricle" EXACT [] synonym: "Isolated right ventricular hypoplasia" EXACT [] synonym: "right ventricular hypoplasia" EXACT [] xref: MESH:C535682 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9004973 name: Cervical Ribs, Sprengel Anomaly, Anal Atresia, Urethral Obstruction alt_id: MIM:601389 synonym: "Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction" EXACT [] synonym: "Cervical ribs, Sprengel anomaly, preaxial polydactyly, anal atresia, and urethral obstruction" EXACT [] xref: MESH:C538072 is_a: DOID:10488 ! imperforate anus is_a: DOID:12577 ! urethral obstruction is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9004974 name: Painful Neuropathy alt_id: MIM:256870 xref: MESH:C564945 is_a: DOID:870 ! neuropathy is_a: DOID:9000641 ! Pain [Term] id: DOID:9004975 name: Sacral Agenesis with Vertebral Anomalies synonym: "SAVA" EXACT [] xref: MIM:615709 xref: RDO:9001035 is_a: DOID:630 ! genetic disease is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9004976 name: Peters Anomaly with Cataract xref: MESH:C537885 is_a: DOID:1686 ! glaucoma is_a: DOID:83 ! cataract [Term] id: DOID:9004977 name: Coxoauricular Syndrome alt_id: MIM:122780 xref: MESH:C565148 is_a: DOID:225 ! syndrome is_a: DOID:9005560 ! Congenital Hip Dislocation is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008681 ! Deafness [Term] id: DOID:9004979 name: Knee Dislocation def: "Slippage of the FEMUR off the TIBIA." [MESH:D031221] synonym: "congenital knee dislocation" RELATED [] synonym: "Knee Dislocations" EXACT [] xref: MESH:D031221 xref: MONDO:0017470 is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9008290 ! Knee Injuries [Term] id: DOID:9004980 name: Chronobiology Disorders def: "Disruptions of the rhythmic cycle of bodily functions or activities." [MESH:D021081] synonym: "Biological Clock Disturbance" EXACT [] synonym: "Biological Clock Disturbances" EXACT [] synonym: "Chronobiology Disorder" EXACT [] synonym: "Circadian Dysregulation" EXACT [] synonym: "Circadian Rhythm Disorder" EXACT [] synonym: "Circadian Rhythm Disorders" EXACT [] synonym: "Psychogenic Inversion of Circadian Rhythm" EXACT [] xref: MESH:D021081 xref: RDO:0007327 is_a: DOID:863 ! nervous system disease [Term] id: DOID:9004981 name: Kantaputra Gorlin Syndrome synonym: "MDK" EXACT [] synonym: "Mesomelic dysplasia, Kantaputra type" EXACT [] synonym: "Mesomelic dysplasia, Thai type" EXACT [] synonym: "Mesomelic dysplasia with ankle, carpal, and tarsal synostosis" EXACT [] synonym: "MMDK" EXACT [] xref: MESH:C535547 xref: MIM:156232 xref: MONDO:0007977 is_a: DOID:225 ! syndrome is_a: DOID:9003938 ! Foot Deformities is_a: DOID:9009006 ! Mesomelic Dysplasia [Term] id: DOID:9004982 name: X-Linked Vesicoureteral Reflux alt_id: MIM:314550 synonym: "VURX" EXACT [] xref: MESH:C564042 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9620 ! vesicoureteral reflux [Term] id: DOID:9004983 name: Fetal Inflammatory Response Syndrome def: "A condition characterized by systemic inflammation and an elevation of fetal plasma interleukin-6. (PMID:17762416)" [] synonym: "chorioamnionitis-induced fetal inflammatory response syndrome" EXACT [] synonym: "chorioamnionitis-induced FIRS" EXACT [] synonym: "fetal sepsis-induced fetal inflammatory response syndrome" EXACT [] synonym: "FIRS" EXACT [] synonym: "FIRS fetal inflammatory response syndrome" EXACT [] synonym: "lipopolysaccharide-induced fetal inflammatory response syndrome" EXACT [] synonym: "LPS-induced fetal inflammatory response syndrome" EXACT [] synonym: "LPS-induced FIRS" EXACT [] synonym: "sepsis-induced fetal inflammatory response syndrome" EXACT [] synonym: "sepsis-induced FIRS" EXACT [] xref: MESH:C000719624 is_a: DOID:225 ! syndrome is_a: DOID:9000169 ! Systemic Inflammatory Response Syndrome is_a: DOID:9001984 ! Fetal Diseases created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:9004984 name: Uterine Prolapse def: "Downward displacement of the UTERUS. It is classified in various degrees: in the first degree the UTERINE CERVIX is within the vaginal orifice; in the second degree the cervix is outside the orifice; in the third degree the entire uterus is outside the orifice." [MESH:D014596] synonym: "Uterine Prolapses" EXACT [] synonym: "Vaginal Prolapse" EXACT [] synonym: "Vaginal Prolapses" EXACT [] xref: EFO:1001864 xref: MESH:D014596 is_a: DOID:345 ! uterine disease is_a: DOID:9008409 ! Pelvic Organ Prolapse [Term] id: DOID:9004985 name: Animal Diseases def: "Diseases that occur in VERTEBRATE animals." [MESH:D000820] subset: RGD_JBrowse_slim xref: EFO:0005932 xref: MESH:D000820 is_a: DOID:4 ! disease [Term] id: DOID:9004986 name: Ackerman Syndrome alt_id: MIM:200970 synonym: "juvenile glaucoma with unusual upper lip and dental roots" EXACT [] synonym: "pyramidal molar roots with juvenile glaucoma and unusual upper lip" EXACT [] synonym: "pyramidal molars, glaucoma, abnormal upper lip" EXACT [] xref: MESH:C538170 is_a: DOID:1686 ! glaucoma is_a: DOID:225 ! syndrome is_a: DOID:9004563 ! Maxillofacial Abnormalities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9004987 name: Neuroticism xref: MESH:C564323 is_a: DOID:2030 ! anxiety disorder [Term] id: DOID:9004988 name: Uterine Adenosarcoma alt_id: RDO:0004185 synonym: "adenosarcoma of the uterus" EXACT [] synonym: "Mullerian adenosarcoma of the uterus" EXACT [] xref: MESH:C538232 is_a: DOID:1974 ! adenosarcoma is_a: DOID:9004268 ! Uterine Neoplasms [Term] id: DOID:9004989 name: Protein Deficiency def: "A nutritional condition produced by a deficiency of proteins in the diet, characterized by adaptive enzyme changes in the liver, increase in amino acid synthetases, and diminution of urea formation, thus conserving nitrogen and reducing its loss in the urine. Growth, immune response, repair, and production of enzymes and hormones are all impaired in severe protein deficiency. Protein deficiency may also arise in the face of adequate protein intake if the protein is of poor quality (i.e., the content of one or more amino acids is inadequate and thus becomes the limiting factor in protein utilization). (From Merck Manual, 16th ed; Harrison's Principles of Internal Medicine, 12th ed, p406)" [MESH:D011488] synonym: "Protein Deficiencies" EXACT [] xref: MESH:D011488 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:9004990 name: Rodent Diseases def: "Diseases of rodents of the order RODENTIA. This term includes diseases of Sciuridae (squirrels), Geomyidae (gophers), Heteromyidae (pouched mice), Castoridae (beavers), Cricetidae (rats and mice), Muridae (Old World rats and mice), Erethizontidae (porcupines), and Caviidae (guinea pigs)." [MESH:D012376] synonym: "Rodent Disease" EXACT [] xref: MESH:D012376 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9004992 name: Apnea def: "A transient absence of spontaneous respiration." [MESH:D001049] synonym: "Apneas" EXACT [] xref: MESH:D001049 xref: RDO:0001052 is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9004994 name: Embryo Loss def: "Early pregnancy loss during the EMBRYO, MAMMALIAN stage of development. In the human, this period comprises the second through eighth week after fertilization." [MESH:D020964] synonym: "blastocyst disintegration" EXACT [] synonym: "disintegration of blastocyst" EXACT [] synonym: "Disintegration of Embryo" EXACT [] synonym: "Embryo Death" EXACT [] synonym: "Embryo Deaths" EXACT [] synonym: "Embryo Disintegration" EXACT [] synonym: "embryo resorption" EXACT [] synonym: "preimplantation embryonic lethality" EXACT [] synonym: "PREMBL" EXACT [] xref: MESH:D020964 is_a: DOID:9000543 ! Death is_a: DOID:9003281 ! Spontaneous Abortions [Term] id: DOID:9004995 name: Baker Vinters Syndrome synonym: "Hydrocephalus with cerebral aqueductal dysgenesis and craniofacial anomalies" EXACT [] xref: MESH:C537899 is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9004996 name: Infantile-Onset Limb and Orofacial Dyskinesia def: "An autosomal recessive neurologic disorder characterized by delayed motor development and onset of a hyperkinetic movement disorder in the first year of life. The disorder results in impaired walking and orofacial dyskinesia with difficulty talking. (OMIM)" [] synonym: "IOLOD" EXACT [] xref: MIM:616921 is_a: DOID:9002362 ! Hyperkinesis is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9004997 name: Pediatric Adrenocortical Carcinoma alt_id: RDO:0014469 xref: MESH:C565973 is_a: DOID:3948 ! adrenocortical carcinoma [Term] id: DOID:9004998 name: Kyphoscoliosis alt_id: MIM:610170 def: "A deformity of growth resulting in backward and lateral curvature of the spine." [] synonym: "kyphoscoliosis 1" EXACT [] synonym: "kyphoscoliosis deformity of spine" EXACT [] synonym: "KYPSC1" EXACT [] xref: MESH:C565711 is_a: DOID:0060249 ! scoliosis is_a: DOID:4667 ! kyphosis created_by: rgd creation_date: 2016-07-28T00:00:00Z [Term] id: DOID:9004999 name: APLASIA/HYPOPLASIA INVOLVING BONES OF THE LOWER LIMBS is_a: DOID:0080006 ! bone development disease created_by: slaulede creation_date: 2020-01-07T12:45:07Z [Term] id: DOID:9005000 name: Gallbladder Disease 4 alt_id: MIM:611465 synonym: "ABCG8-RELATED CONDITION" BROAD [] synonym: "GBD4" EXACT [] xref: MESH:C566936 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:9005001 name: Congenital Neuromuscular Disease, with Uniform Type 1 Fiber alt_id: RDO:0015310 synonym: "CNMDU1" EXACT [] xref: MESH:C567162 is_a: DOID:3529 ! congenital myopathy 1A [Term] id: DOID:9005002 name: Aplasia Cutis Congenita, High Myopia, and Cone-Rod Dysfunction alt_id: MIM:601075 xref: MESH:C563394 is_a: DOID:11830 ! myopia is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9000343 ! Vision Disorders is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:9005003 name: Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density alt_id: MIM:601376 xref: MESH:C563330 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9005004 name: Musculoskeletal Abnormalities def: "Congenital structural abnormalities and deformities of the musculoskeletal system." [MESH:D009139] synonym: "Musculoskeletal Abnormality" EXACT [] xref: MESH:D009139 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9005005 name: Oral Ulcer def: "A loss of mucous substance of the mouth showing local excavation of the surface, resulting from the sloughing of inflammatory necrotic tissue. It is the result of a variety of causes, e.g., denture irritation, aphthous stomatitis (STOMATITIS, APHTHOUS); NOMA; necrotizing gingivitis (GINGIVITIS, NECROTIZING ULCERATIVE); TOOTHBRUSHING; and various irritants. (From Jablonski, Dictionary of Dentistry, 1992, p842)" [MESH:D019226] synonym: "Mouth Ulcer" EXACT [] synonym: "Mouth Ulcers" EXACT [] synonym: "Oral Ulcers" EXACT [] xref: MESH:D019226 is_a: DOID:403 ! mouth disease is_a: DOID:9005175 ! Ulcer is_a: DOID:9663 ! aphthous stomatitis [Term] id: DOID:9005006 name: Melanoma-Pancreatic Cancer Syndrome alt_id: MIM:606719 synonym: "Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome" EXACT [] synonym: "FAMMMPC" EXACT [] synonym: "FAMMMPC Syndrome" EXACT [] xref: MESH:C563985 is_a: DOID:1793 ! pancreatic cancer is_a: DOID:1909 ! melanoma is_a: DOID:225 ! syndrome is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9005007 name: Thyroxine-Binding Globulin Deficiency alt_id: RDO:0013142 synonym: "THYROXINE-BINDING GLOBULIN DEFICIENCY, COMPLETE" NARROW [] synonym: "THYROXINE-BINDING GLOBULIN DEFICIENCY, PARTIAL" NARROW [] xref: MESH:C564049 is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:9005009 name: Thrombocytopenia 6 def: "An autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. (OMIM)" [] synonym: "autosomal dominant thrombocytopenia-6" EXACT [] synonym: "THC6" EXACT [] xref: MIM:616937 is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9005010 name: Partial Lissencephaly synonym: "Focal agyria pachygyria" EXACT [] synonym: "Incomplete lissencephaly" EXACT [] xref: MESH:C536298 is_a: DOID:0050453 ! lissencephaly [Term] id: DOID:9005013 name: Calcific Pancreatitis synonym: "calcific chronic pancreatitis" EXACT [] synonym: "chronic calcifying pancreatitis" EXACT [] xref: MESH:C566837 is_a: DOID:9006190 ! Chronic Pancreatitis [Term] id: DOID:9005015 name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES def: "A disease characterized by impaired intellectual development or developmental delay, behavioral abnormalities including autistic features, and language impairment." [MIM:618917] synonym: "NEDLIB" EXACT [] xref: MIM:618917 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders created_by: slaulede creation_date: 2020-11-09T17:52:55Z [Term] id: DOID:9005016 name: Hunter Carpenter Macdonald Syndrome xref: MESH:C536071 is_a: DOID:225 ! syndrome is_a: DOID:2367 ! neuroaxonal dystrophy [Term] id: DOID:9005017 name: Hereditary Angioedema 4 def: "An autosomal dominant disorder characterized by episodic subcutaneous or submucosal edema with onset usually in adulthood. Caused by heterozygous mutation in the PLG gene on chromosome 6q26. (OMIM)" [] synonym: "HAE4" EXACT [] synonym: "PLG-RELATED CONDITION" BROAD [] xref: MIM:619360 is_a: DOID:14735 ! hereditary angioedema created_by: mtutaj creation_date: 2021-06-11T12:04:57Z [Term] id: DOID:9005018 name: Peroxisome Biogenesis Disorder, Complementation Group J xref: MESH:C563965 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9005019 name: JABERI-ELAHI SYNDROME def: "An autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. (OMIM)" [] synonym: "JABELS" EXACT [] xref: MIM:617988 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2018-06-19T12:49:04Z [Term] id: DOID:9005020 name: Brain Contusion def: "A bruise of the brain from an impact of the skull." [MESH:D000070624] synonym: "Brain Contusions" EXACT [] synonym: "Cerebellar Contusion" EXACT [] synonym: "Cerebellar Contusions" EXACT [] synonym: "Cerebral Contusion" EXACT [] synonym: "Cerebral Contusions" EXACT [] synonym: "Contusio Cerebri" EXACT [] synonym: "Cortical Contusion" EXACT [] synonym: "Cortical Contusions" EXACT [] xref: MESH:D000070624 is_a: DOID:0081292 ! traumatic brain injury is_a: DOID:9005166 ! Contusions [Term] id: DOID:9005021 name: Verloes Van Maldergem Marneffe Syndrome alt_id: MIM:157151 synonym: "Dominantly inherited bone dysplasia with severe eye involvement" EXACT [] synonym: "Microspherophakia-metaphyseal dysplasia" EXACT [] xref: MESH:C536540 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9005022 name: Multiple Exostoses Type III alt_id: MIM:600209 alt_id: RDO:0013086 synonym: "EXT3" EXACT [] synonym: "hereditary multiple exostoses 3" EXACT [] xref: MESH:C563975 is_a: DOID:206 ! hereditary multiple exostoses [Term] id: DOID:9005023 name: Hereditary Sclerosing Poikiloderma alt_id: MIM:173700 xref: MESH:C562824 is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007896 ! Sclerosis [Term] id: DOID:9005024 name: Hereditary Adrenocortical Carcinoma alt_id: MIM:202300 alt_id: RDO:0014468 synonym: "ADCC" EXACT [] synonym: "ADRENOCORTICAL CARCINOMA, PEDIATRIC" NARROW [] xref: MESH:C565972 is_a: DOID:3948 ! adrenocortical carcinoma [Term] id: DOID:9005025 name: Isolated Microphthalmia with Coloboma 2 alt_id: MIM:605738 synonym: "MCOPCB2" EXACT [] synonym: "Microphthalmia, Colobomatous, Isolated 2" EXACT [] xref: MESH:C565300 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma [Term] id: DOID:9005026 name: Foot Rot def: "A disease of the horny parts and of the adjacent soft structures of the feet of cattle, swine, and sheep. It is usually caused by Corynebacterium pyogenes or Bacteroides nodosus (see DICHELOBACTER NODOSUS). It is also known as interdigital necrobacillosis. (From Black's Veterinary Dictionary, 18th ed)" [MESH:D005535] synonym: "Foot Rots" EXACT [] xref: MESH:D005535 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9005027 name: Waardenburg Syndrome Type 4 synonym: "Hirschsprung disease with pigmentary anomaly" EXACT [] synonym: "Shah-Waardenburg syndrome" EXACT [] synonym: "Waardenburg-Hirschsprung disease" EXACT [] synonym: "WS4" EXACT [] xref: MESH:C536467 xref: NCI:C124842 xref: ORDO:897 is_a: DOID:10123 ! pigmentation disease is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:9258 ! Waardenburg syndrome [Term] id: DOID:9005028 name: Oocyte/Zygote/Embryo Maturation Arrest 7 synonym: "Oocyte Maturation Defect 7" EXACT [] synonym: "OOMD7" EXACT [] synonym: "OZEMA7" EXACT [] xref: MIM:618550 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2019-09-03T14:46:29Z [Term] id: DOID:9005029 name: Ectrodactyly and Ectodermal Dysplasia without Cleft Lip/Palate alt_id: MIM:129810 xref: MESH:C565065 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9005030 name: Junctional Epidermolysis Bullosa 2B, Severe synonym: "JEB2B" EXACT [] synonym: "Junctional Epidermolysis Bullosa 2B, Generalized Severe" EXACT [] synonym: "Junctional Epidermolysis Bullosa 2B, Herlitz Type" EXACT [] synonym: "severe junctional epidermolysis bullosa 2B" EXACT [] xref: MIM:619784 is_a: DOID:0060737 ! junctional epidermolysis bullosa Herlitz type created_by: mtutaj creation_date: 2022-06-07T11:41:32Z [Term] id: DOID:9005031 name: Liddle Syndrome 1 def: "An autosomal dominant disorder characterized by early-onset salt-sensitive hypertension, hypokalemia, metabolic alkalosis, and suppression of plasma renin activity and aldosterone secretion." [] synonym: "LIDLS1" EXACT [] synonym: "PSEUDOHYPERALDOSTERONISM" EXACT [] synonym: "PSEUDOPRIMARY HYPERALDOSTERONISM" EXACT [] xref: MIM:177200 is_a: DOID:0050477 ! Liddle syndrome created_by: mtutaj creation_date: 2019-03-19T00:00:00Z [Term] id: DOID:9005032 name: Olivopontocerebellar Atrophy 3 xref: MESH:C538631 xref: RDO:0004555 is_a: DOID:14784 ! olivopontocerebellar atrophy [Term] id: DOID:9005033 name: Leri Pleonosteosis alt_id: MIM:151200 synonym: "CHROMOSOME 8q22.1 DUPLICATION SYNDROME" EXACT [] synonym: "Leri's pleonosteosis" EXACT [] synonym: "Leri pleonosteosis chromosome duplication syndrome" EXACT [] synonym: "Leri type pleonosteosis" EXACT [] xref: MESH:C537118 is_a: DOID:381 ! arthropathy is_a: DOID:9001487 ! Facies is_a: DOID:9003295 ! Heterotopic Ossification is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9005034 name: Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy alt_id: MIM:182690 xref: MESH:C566682 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:557 ! kidney disease [Term] id: DOID:9005036 name: Bacteremia alt_id: MIM:614382 alt_id: MIM:614383 def: "The presence of viable bacteria circulating in the blood. Fever, chills, tachycardia, and tachypnea are common acute manifestations of bacteremia. The majority of cases are seen in already hospitalized patients, most of whom have underlying diseases or procedures which render their bloodstreams susceptible to invasion." [MESH:D016470] synonym: "Bacteremia, Resistance To" RELATED [] synonym: "Bacteremias" EXACT [] synonym: "bacteremia, susceptibility to, 1" RELATED [] synonym: "bacteremia, susceptibility to, 2" RELATED [] synonym: "bacteriemia" EXACT [] synonym: "BACTS1" EXACT [] synonym: "BACTS2" EXACT [] synonym: "non-typhoidal Salmonella bacteremia" NARROW [] xref: EFO:0003033 xref: EFO:0009087 xref: MESH:D016470 is_a: DOID:104 ! bacterial infectious disease relationship: part_of DOID:0040085 ! bacterial sepsis [Term] id: DOID:9005037 name: Pituitary Dwarfism with Large Sella Turcica alt_id: MIM:262710 xref: MESH:C562705 is_a: DOID:0060870 ! isolated growth hormone deficiency [Term] id: DOID:9005038 name: Pelvic Girdle Pain def: "Discomfort associated with the bones that make up the pelvic girdle. It occurs frequently during pregnancy." [MESH:D059388] synonym: "Pelvic Girdle Pains" EXACT [] synonym: "Symphysis Pubis Dysfunction" EXACT [] synonym: "Symphysis Pubis Dysfunctions" EXACT [] xref: MESH:D059388 xref: RDO:0010015 is_a: DOID:9005228 ! Musculoskeletal Pain is_a: DOID:9008450 ! Pelvic Pain [Term] id: DOID:9005039 name: Fatal Fetal Cardiomyopathy due to Myocardial Calcification alt_id: MIM:300829 synonym: "Myocardial calcifications resulting in intrauterine fetal death" EXACT [] xref: MESH:C543241 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:182 ! calcinosis is_a: DOID:9001916 ! Fetal Death [Term] id: DOID:9005040 name: Hand Osteoarthritis synonym: "Degenerative joint disease of hand" EXACT [] synonym: "Osteoarthritis - hand joint" EXACT [] synonym: "Osteoarthrosis of hand" EXACT [] xref: EFO:1000789 xref: RDO:9001106 is_a: DOID:8398 ! osteoarthritis created_by: rgd creation_date: 2015-06-17T00:00:00Z [Term] id: DOID:9005041 name: Isolated Microphthalmia with Coloboma 3 alt_id: MIM:610092 synonym: "MCOPCB3" EXACT [] synonym: "Microphthalmia, Colobomatous, Isolated 3" EXACT [] synonym: "MICROPHTHALMIA, COLOBOMATOUS, ISOLATED 3 MICROPHTHALMIA, CATARACTS, AND IRIS ABNORMALITIES" NARROW [] synonym: "VSX2-RELATED CONDITION" BROAD [] xref: MESH:C566447 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma [Term] id: DOID:9005042 name: Familial Persistent Stuttering 3 synonym: "STUT3" EXACT [] xref: MIM:614655 xref: MONDO:0013841 is_a: DOID:0060243 ! stuttering [Term] id: DOID:9005043 name: Alpha-Mannosidosis, Type 3 def: "A severe form manifested as pregnancy loss or early death from progressive central nervous system involvement. (GARD)" [] is_a: DOID:3413 ! alpha-mannosidosis [Term] id: DOID:9005044 name: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 1 def: "An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. (OMIM)" [] synonym: "3-HYDROXYANTHRANILIC ACIDEMIA" EXACT [] synonym: "congenital NAD deficiency disorder 1" EXACT [] synonym: "VCRL1" EXACT [] xref: MIM:617660 is_a: DOID:9008119 ! Vertebral, Cardiac, Renal, and Limb Defects Syndromes created_by: rgd creation_date: 2017-12-01T00:00:00Z [Term] id: DOID:9005045 name: Ectodermal Dysplasia, Mental Retardation, Syndactyly alt_id: MIM:600906 synonym: "Ectodermal dysplasia with mental retardation and syndactyly" EXACT [] xref: MESH:C538018 is_a: DOID:1059 ! intellectual disability is_a: DOID:11193 ! syndactyly is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9005047 name: Hypercalciuria, Absorptive, 2 alt_id: MIM:143870 synonym: "ADCY10-RELATED CONDITION" EXACT [] synonym: "familial idiopathic hypercalciuria" EXACT [] synonym: "HCA2" EXACT [] synonym: "Hypercalciuria, absorptive, susceptibility to" RELATED [] xref: MESH:C562790 is_a: DOID:9001738 ! Hypercalciuria [Term] id: DOID:9005048 name: Cataract, Crystalline Coralliform xref: MESH:C566161 xref: RDO:0014600 is_a: DOID:83 ! cataract [Term] id: DOID:9005049 name: Gastric Sneezing synonym: "Stomach Sneeze Reflex" EXACT [] xref: MESH:C564990 xref: MIM:137130 is_a: DOID:9000133 ! Sneezing [Term] id: DOID:9005050 name: Tapetoretinal Degeneration with Ataxia alt_id: MIM:272600 xref: MESH:C564788 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9005051 name: Monosomy 5p xref: MESH:C538482 xref: ORDO:281 is_a: DOID:12580 ! Cri-du-Chat syndrome [Term] id: DOID:9005052 name: Accessory Deep Peroneal Nerve alt_id: MIM:170980 xref: MESH:C536001 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:9005053 name: Hyperostosis Cranialis Interna synonym: "SLC39A14-RELATED CONDITION" BROAD [] xref: MESH:C564168 xref: MIM:144755 xref: MONDO:0007765 is_a: DOID:205 ! hyperostosis is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:9005054 name: Hypertrophia Musculorum Vera alt_id: MIM:145800 xref: MESH:C564152 is_a: DOID:0080000 ! muscular disease is_a: DOID:9000040 ! Hypertrophy [Term] id: DOID:9005055 name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES, HYPOTONIA, AND BRAIN IMAGING ABNORMALITIES def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe to profound intellectual impairment, early-onset refractory seizures, hypotonia, failure to thrive, and progressive microcephaly. Brain imaging shows cerebral atrophy, thin corpus callosum, and myelination defects." [MIM:618922] synonym: "NEDSHBA" EXACT [] xref: MIM:618922 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006534 ! Nervous System Malformations created_by: slaulede creation_date: 2020-11-09T18:07:45Z [Term] id: DOID:9005056 name: Glucoglycinuria alt_id: MIM:138070 xref: MESH:C562670 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9005057 name: Necrobiotic Disorders def: "A group of disorders characterized by swelling, basophilia, and distortion of collagen bundles in the dermis." [MESH:D017441] synonym: "Necrobioses" EXACT [] synonym: "Necrobiosis" EXACT [] synonym: "Necrobiotic Disorder" EXACT [] xref: MESH:D017441 is_a: DOID:37 ! skin disease is_a: DOID:854 ! collagen disease [Term] id: DOID:9005058 name: Membranous Obstruction of Inferior Vena Cava alt_id: RDO:0012475 xref: MESH:C563013 is_a: DOID:11512 ! Budd-Chiari syndrome [Term] id: DOID:9005059 name: Hypertelorism and Tetralogy of Fallot alt_id: MIM:239711 xref: MESH:C538386 is_a: DOID:6419 ! tetralogy of Fallot is_a: DOID:9003133 ! Hypertelorism [Term] id: DOID:9005061 name: Kaplowitz Bodurtha syndrome synonym: "Congenital hypopituitarism and microphthalmia" EXACT [] synonym: "Hypopituitarism microphthalmia" EXACT [] xref: MESH:C536893 is_a: DOID:10629 ! microphthalmia is_a: DOID:225 ! syndrome is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:9005062 name: Prostate Cancer, Hereditary, 1 synonym: "HPC1" EXACT [] synonym: "PRCA1" EXACT [] xref: MIM:601518 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9005063 name: HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 1 alt_id: RDO:9001599 def: "A disorder characterized by onset of seizures associated with low serum magnesium in the first year of life. Affected individuals show variable degrees of delayed psychomotor development. (OMIM)" [] synonym: "HOMGSMR" RELATED [] synonym: "HOMGSMR1" EXACT [] synonym: "Hypomagnesemia, Seizures, and Mental Retardation 1" EXACT [] xref: MIM:616418 is_a: DOID:9002857 ! HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY [Term] id: DOID:9005064 name: Immunodeficiency with Defective Leukocyte and Lymphocyte Function and with Response to Histamine-1 Antagonist xref: MESH:C564135 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9005065 name: Leukoplakia def: "A white patch lesion found on a MUCOUS MEMBRANE that cannot be scraped off. Leukoplakia is generally considered a precancerous condition, however its appearance may also result from a variety of HEREDITARY DISEASES." [MESH:D007971] synonym: "Leukokeratoses" EXACT [] synonym: "Leukokeratosis" EXACT [] synonym: "Leukoplakias" EXACT [] synonym: "Leukoplakic Lesion" EXACT [] synonym: "Leukoplakic Lesions" EXACT [] xref: MESH:D007971 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9005066 name: IMMUNODEFICIENCY 123 WITH HPV-RELATED VERRUCOSIS def: "This disease is an autosomal recessive immunologic disorder characterized by the onset of HPV-related common cutaneous warts in the first decade of life. The severity of the skin lesions appears to be related to the specific HPV subtype. Peripheral blood leukocytes and immunoglobulins are essentially normal, but antibody response to vaccination is variably decreased and there is impaired T-cell function, particularly of CD4+ T cells. The findings are consistent with an exclusive and specific impairment of T-cell adaptive immunity with increased susceptibility to alpha- and gamma-HPV." [MIM:620901] synonym: "IMD123" EXACT [] xref: MIM:620901 is_a: DOID:612 ! primary immunodeficiency disease relationship: has_component DOID:3178 ! skin papilloma created_by: slaulederkind creation_date: 2024-09-17T17:00:46Z [Term] id: DOID:9005069 name: Chromosome 1, q42 11 q42 12 Duplication synonym: "Duplication 1q42 11 q42 12" EXACT [] synonym: "Trisomy 1q42 11 q42 12" EXACT [] xref: MESH:C538082 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9005070 name: Microscopic Polyangiitis def: "A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls." [MESH:D055953] synonym: "Microscopic Polyangiitides" EXACT [] xref: EFO:1000784 xref: MESH:D055953 is_a: DOID:9003819 ! Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis [Term] id: DOID:9005071 name: Kozlowski Brown Hardwick Syndrome synonym: "unusual facies, hooked clavicles, 13 pairs of ribs, widened metaphyses, square shaped vertebral bodies and communicating hydrocephalus" EXACT [] xref: GARD:3136 xref: MESH:C537506 is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005072 name: Synpolydactyly with Foot Anomalies xref: MESH:C566095 xref: RDO:0014555 is_a: DOID:1148 ! polydactyly is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:9005073 name: Thoracopelvic Dysostosis alt_id: MIM:187770 xref: MESH:C566062 is_a: DOID:1934 ! dysostosis [Term] id: DOID:9005074 name: Dwarfism Stiff Joint Ocular Abnormalities alt_id: MIM:127200 synonym: "Dwarfism with Stiff Joints and Ocular Abnormalities" EXACT [] synonym: "Moore-Federman syndrome" EXACT [] xref: MESH:C535724 is_a: DOID:381 ! arthropathy is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9005075 name: Spastic Paraplegia and Psychomotor Retardation with or without Seizures def: "An autosomal recessive complex neurodevelopmental disorder with onset in infancy. Affected children show hypotonia followed by severely impaired global development and significant motor disability. (OMIM)" [] synonym: "SPPRS" EXACT [] xref: MIM:616756 xref: RDO:9001159 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2016-03-11T00:00:00Z [Term] id: DOID:9005076 name: Cardioauditory Syndrome of Sanchez Cascos alt_id: MIM:212100 synonym: "Sanchez Cascos cardioauditory syndrome" EXACT [] xref: MESH:C535577 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9008681 ! Deafness [Term] id: DOID:9005077 name: Joint Instability def: "Lack of stability of a joint or joint prosthesis." [MESH:D007593] synonym: "joint hypermobilities" EXACT [] synonym: "Joint Hypermobility" EXACT [] synonym: "Joint Instabilities" EXACT [] synonym: "Joint Laxities" EXACT [] synonym: "joint laxity" EXACT [] xref: MESH:D007593 is_a: DOID:381 ! arthropathy [Term] id: DOID:9005078 name: Congenital Macroglossia alt_id: MIM:153630 synonym: "Enlarged tongue" EXACT [] synonym: "Giant tongue" EXACT [] xref: MESH:C531735 is_a: DOID:9007817 ! Macroglossia [Term] id: DOID:9005080 name: Ganglion Cysts def: "Nodular tumor-like lesions or mucoid flesh, arising from tendon sheaths, LIGAMENTS, or JOINT CAPSULE, especially of the hands, wrists, or feet. They are not true cysts as they lack epithelial wall. They are distinguished from SYNOVIAL CYSTS by the lack of communication with a joint cavity or the SYNOVIAL MEMBRANE." [MESH:D045888] synonym: "Ganglion" EXACT [] synonym: "Ganglion Cyst" EXACT [] synonym: "Ganglionic Cyst" EXACT [] synonym: "Ganglionic Cysts" EXACT [] synonym: "Ganglions" EXACT [] synonym: "Myxoid Cyst" EXACT [] synonym: "Myxoid Cysts" EXACT [] xref: MESH:D045888 is_a: DOID:65 ! connective tissue disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:9005081 name: Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections xref: MESH:C537163 is_a: DOID:150 ! disease of mental health is_a: DOID:417 ! autoimmune disease is_a: DOID:9006844 ! Streptococcal Infections [Term] id: DOID:9005082 name: Periventricular Nodular Heterotopia 4 alt_id: MIM:300537 alt_id: RDO:0013438 synonym: "Periventricular heterotopia, Ehlers-Danlos variant" EXACT [] synonym: "PVNH4" EXACT [] xref: MESH:C564492 is_a: DOID:0050454 ! periventricular nodular heterotopia is_a: DOID:0050735 ! X-linked monogenic disease [Term] id: DOID:9005084 name: Kniest Like Dysplasia Lethal alt_id: MIM:245190 alt_id: RDO:0002997 synonym: "Arthrosis, flat face, hypotonia, short neck and macrocephaly" EXACT [] synonym: "lethal Kniest-like syndrome" EXACT [] xref: MESH:C537208 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:8488 ! polyhydramnios is_a: DOID:9000613 ! Hyaline Membrane Disease is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9005085 name: Florid Papillomatosis of Nipple alt_id: MIM:167950 synonym: "Florid papillomatosis of the nipple" EXACT [] xref: MESH:C537167 is_a: DOID:2615 ! papilloma is_a: DOID:9008939 ! Breast Neoplasms [Term] id: DOID:9005086 name: Angiomatoid Fibrous Histiocytoma alt_id: MIM:612160 xref: MESH:C563181 is_a: DOID:1907 ! malignant fibrous histiocytoma [Term] id: DOID:9005087 name: Oxyuriasis def: "Infection with nematodes of the superfamily OXYUROIDEA." [] synonym: "aspiculariases" EXACT [] synonym: "aspiculariasis" EXACT [] synonym: "oxyuriases" EXACT [] xref: MESH:D010123 is_a: DOID:9003447 ! Oxyurida Infections [Term] id: DOID:9005088 name: Silengo Lerone Pelizza Syndrome xref: MESH:C537336 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005089 name: Whyte Murphy Fallon Sly syndrome xref: MESH:C536060 is_a: DOID:13533 ! osteopetrosis is_a: DOID:14219 ! renal tubular acidosis is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome [Term] id: DOID:9005090 name: Post-Lyme Disease Syndrome def: "A condition caused by long-lasting and ongoing infection with the spirochete Borrelia burgdorferi resulting in progressive inflammatory neurologic, neuromuscular, and dermatologic manifestations including ENCEPHALITIS; MYELITIS; acrodermatitis chronica atrophicans; and ARTHRITIS." [] synonym: "Chronic Lyme Disease" EXACT [] synonym: "Post-Treatment Lyme Disease" EXACT [] xref: MESH:D000077342 is_a: DOID:11729 ! Lyme disease created_by: mtutaj creation_date: 2022-12-12T13:33:00Z [Term] id: DOID:9005091 name: Lentivirus Infections def: "Virus diseases caused by the Lentivirus genus. They are multi-organ diseases characterized by long incubation periods and persistent infection." [MESH:D016180] synonym: "Lentivirus infection" EXACT [] xref: EFO:1001357 xref: MESH:D016180 is_a: DOID:9006644 ! Retroviridae Infections [Term] id: DOID:9005092 name: Argyria def: "A permanent ashen-gray discoloration of the skin, conjunctiva, and internal organs resulting from long-continued use of silver salts. (Dorland, 27th ed)" [MESH:D001129] synonym: "Argyrias" EXACT [] xref: MESH:D001129 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9005094 name: Hereditary Hyperbilirubinemia alt_id: MIM:237450 alt_id: RDO:0005293 alt_id: RDO:0016141 def: "Inborn errors of bilirubin metabolism resulting in excessive amounts of bilirubin in the circulating blood, either because of increased bilirubin production or because of delayed clearance of bilirubin from the blood." [MESH:D006933] synonym: "HBLRR" EXACT [] synonym: "hereditary hyperbilirubinemias" EXACT [] synonym: "Rotor Syndrome" EXACT [] synonym: "rotor type hyperbilirubinemia" EXACT [] synonym: "SLCO1B3-RELATED CONDITION" EXACT [] xref: MESH:D006933 is_a: DOID:2741 ! bilirubin metabolic disorder is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9005095 name: Putaminal Hemorrhage def: "Intracranial bleeding into the PUTAMEN, a BASAL GANGLIA nucleus. This is associated with HYPERTENSION and lipohyalinosis of small blood vessels in the putamen. Clinical manifestations vary with the size of hemorrhage, but include HEMIPARESIS; HEADACHE; and alterations of consciousness." [MESH:D020146] synonym: "Brain Hemorrhage, Putaminal" EXACT [] synonym: "Brain Hemorrhages, Putaminal" EXACT [] synonym: "Putamen Hemorrhage" EXACT [] synonym: "Putaminal Hematoma" EXACT [] xref: MESH:D020146 xref: RDO:0007317 is_a: DOID:9002599 ! Basal Ganglia Hemorrhage [Term] id: DOID:9005096 name: Cystocele def: "A HERNIA-like condition in which the weakened pelvic muscles cause the URINARY BLADDER to drop from its normal position. Fallen urinary bladder is more common in females with the bladder dropping into the VAGINA and less common in males with the bladder dropping into the SCROTUM." [MESH:D052858] synonym: "Fallen Urinary Bladder" EXACT [] synonym: "Urinary Bladder Prolapse" EXACT [] xref: MESH:D052858 is_a: DOID:365 ! bladder disease is_a: DOID:9008409 ! Pelvic Organ Prolapse [Term] id: DOID:9005097 name: Hyperlipidemia, Combined, 1 alt_id: MIM:602491 synonym: "FCHL1" EXACT [] synonym: "Hyperlipidemia, Familial Combined, 1" EXACT [] synonym: "HYPLIP1" EXACT [] xref: MESH:C566535 is_a: DOID:13809 ! familial combined hyperlipidemia [Term] id: DOID:9005098 name: Boerhaave Syndrome synonym: "Boerhaave's syndrome" EXACT [] synonym: "Boerhave syndrome" EXACT [] xref: MESH:C536571 is_a: DOID:225 ! syndrome is_a: DOID:9001148 ! Esophageal Perforation is_a: DOID:9007003 ! Mediastinal Diseases [Term] id: DOID:9005099 name: Salmonella Infections, Animal def: "Infections in animals with bacteria of the genus SALMONELLA." [MESH:D012481] synonym: "Animal Salmonella Infection" EXACT [] xref: MESH:D012481 xref: RDO:0006519 is_a: DOID:0060859 ! salmonellosis is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9005100 name: Aberrant Crypt Foci def: "Clusters of colonic crypts that appear different from the surrounding mucosa when visualized after staining. They are of interest as putative precursors to colorectal adenomas and potential biomarkers for colorectal carcinoma." [MESH:D058739] xref: MESH:D058739 is_a: DOID:0060071 ! pre-malignant neoplasm [Term] id: DOID:9005101 name: Carpenter Syndrome 1 synonym: "CRPT1" EXACT [] synonym: "RAB23-RELATED CONDITION" EXACT [] xref: MIM:201000 is_a: DOID:0060234 ! Carpenter syndrome [Term] id: DOID:9005102 name: Sexual and Gender Disorders def: "Mental disorders related to sexual dysfunction, paraphilias, and gender identity disorders." [MESH:D019968] xref: MESH:D019968 xref: RDO:0006555 is_a: DOID:0060043 ! sexual health disorder [Term] id: DOID:9005103 name: Proopiomelanocortin Deficiency def: "An autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. (OMIM)" [] synonym: "OBAIRH" EXACT [] synonym: "OBESITY, ADRENAL INSUFFICIENCY, AND RED HAIR DUE TO POMC DEFICIENCY" EXACT [] synonym: "Obesity, Early-Onset, Adrenal Insufficiency, and Red Hair" EXACT [] synonym: "POMC-RELATED CONDITION" EXACT [] xref: MESH:C565726 xref: MIM:609734 xref: MONDO:0012335 is_a: DOID:9008622 ! Adrenal Insufficiency is_a: DOID:9970 ! obesity [Term] id: DOID:9005104 name: B-Cell CLL/Lymphoma 2 synonym: "LEUKEMIA/LYMPHOMA, B-CELL, 2" EXACT [] synonym: "ONCOGENE B-CELL LEUKEMIA 2" EXACT [] xref: MIM:151430 xref: RDO:9000195 is_a: DOID:0080630 ! B-lymphoblastic leukemia/lymphoma [Term] id: DOID:9005105 name: Adrenal Hyperplasia 2 alt_id: MIM:201810 alt_id: RDO:0015855 synonym: "3 alpha beta-HSD deficiency" EXACT [] synonym: "3 alpha beta-hydroxysteroid dehydrogenase deficiency" EXACT [] synonym: "3 alpha beta-hydroxysteroid dehydrogenase, type 2, deficiency of" EXACT [] synonym: "3 Beta-Hsd Deficiency" EXACT [] synonym: "3beta-Hsd Deficiency" EXACT [] synonym: "3beta-Hsd Deficiency Congenital Adrenal Hyperplasia" EXACT [] synonym: "3-Beta Hydroxysteroid Dehydrogenase Deficiency" EXACT [] synonym: "3beta-Hydroxysteroid Dehydrogenase Deficiency" EXACT [] synonym: "3 beta-ol Dehydrogenase Deficiency" EXACT [] synonym: "3b-Hydroxysteroid Dehydrogenase Deficiency" EXACT [] synonym: "ADRENAL HYPERPLASIA, CONGENITAL, DUE TO 3-BETA-HYDROXYSTEROID DEHYDROGENASE 2 DEFICIENCY" EXACT [] synonym: "ADRENAL HYPERPLASIA II" EXACT [] synonym: "HSDB" EXACT [] synonym: "HSDB3" EXACT [] synonym: "Type II 3beta-Hydroxysteroid Dehydrogenase Deficiency" EXACT [] xref: MESH:C538236 xref: MESH:C579862 xref: RDO:0004189 is_a: DOID:0050811 ! congenital adrenal hyperplasia [Term] id: DOID:9005106 name: Animal Toxoplasmosis def: "Acquired infection of non-human animals by organisms of the genus TOXOPLASMA." [MESH:D014124] synonym: "animal toxoplasmoses" EXACT [] xref: MESH:D014124 is_a: DOID:9004157 ! Protozoan Infections, Animal is_a: DOID:9965 ! toxoplasmosis [Term] id: DOID:9005107 name: Chylous Ascites def: "Presence of milky lymph (CHYLE) in the PERITONEAL CAVITY, with or without infection." [MESH:D002915] synonym: "Chyloperitoneum" EXACT [] synonym: "Chylous Peritonitis" EXACT [] xref: MESH:D002915 is_a: DOID:9006175 ! Peritoneal Diseases [Term] id: DOID:9005108 name: Kallmann Syndrome 2 with Selective Tooth Agenesis xref: MESH:C566948 is_a: DOID:0050591 ! tooth agenesis is_a: DOID:0090083 ! hypogonadotropic hypogonadism 2 with or without anosmia [Term] id: DOID:9005109 name: Anisomastia alt_id: MIM:605746 xref: MESH:C565299 is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005110 name: Familial Esophageal Achalasia alt_id: MIM:200400 xref: MESH:C536011 is_a: DOID:9164 ! achalasia [Term] id: DOID:9005111 name: morphine withdrawal syndrome def: "This disorder happens in human morphine-addicted patients after stopping the intake of morphine. Intense symptoms including anxiety, irritability, and various physical manifestations such as sweating, muscle aches, and gastrointestinal disturbances start within 8-12 hours after last intake and lasts 7-10 days. In model organisms such as mice and rats, symptoms of morphine withdrawal include \"wet dog\" shakes, teeth chatter, jumping, and ptosis." [https://www.drugrehab.com/addiction/prescription-drugs/morphine/withdrawal/, PMID:33727130] synonym: "morphine withdrawal disorder" EXACT [] xref: PMID:30689982 is_a: DOID:9004965 ! opiate withdrawal syndrome created_by: slaulederkind creation_date: 2024-01-25T17:18:25Z [Term] id: DOID:9005112 name: Immunodeficiency 113 def: "An autosomal recessive complex immunologic disorder with onset of symptoms in infancy. Affected individuals have recurrent infections and usually show features of autoimmunity and autoinflammation. Caused by homozygous mutation in the ARPC5 gene on chromosome 1q25." [MIM:620565] synonym: "IMD113" EXACT [] synonym: "Immunodeficiency 133 with autoimmunity and autoinflammation" EXACT [] xref: MIM:620565 is_a: DOID:417 ! autoimmune disease is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: tutajm creation_date: 2023-12-04T12:15:10Z [Term] id: DOID:9005113 name: X-Linked Intellectual Developmental Disorder 110 def: "A disease characterized by moderately to severely impaired intellectual development. Caused by a hemizygous mutation in the FGF13 gene on chromosome Xq26." [MIM:301095] synonym: "XLID110" EXACT [] xref: MIM:301095 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2023-01-19T09:23:43Z [Term] id: DOID:9005114 name: Noncompaction of Left Ventricular Myocardium, Familial Isolated, X-Linked synonym: "Left Ventricular Noncompaction, Isolated, X-Linked" EXACT [] xref: MESH:C564571 is_a: DOID:0050476 ! Barth syndrome [Term] id: DOID:9005115 name: Urinoma def: "An encapsulated accumulation of URINE in the retroperitoneal area. It has the appearance of a cyst (CYSTS). Urinoma is usually caused by URETERAL OBSTRUCTION, renal trauma or perforation of the renal collecting system." [MESH:D053584] synonym: "Urinomas" EXACT [] xref: MESH:D053584 xref: RDO:0007626 is_a: DOID:9007629 ! Urological Manifestations [Term] id: DOID:9005116 name: Pott Puffy Tumor def: "Infection of the FRONTAL BONE often as a complication of FRONTAL SINUSITIS or trauma to the frontal bone and skull. It is characterized by subperiosteal abscess with OSTEOMYELITIS." [MESH:D059369] synonym: "Pott's Puffy Tumor" EXACT [] synonym: "Potts Puffy Tumor" EXACT [] xref: MESH:D059369 is_a: DOID:1019 ! osteomyelitis is_a: DOID:930 ! orbital disease [Term] id: DOID:9005117 name: Ladda Zonana Ramer Syndrome alt_id: MESH:C535465 alt_id: MIM:301815 synonym: "arthrogryposis, ectodermal dysplasia, cleft lip palate and developmental delay" EXACT [] synonym: "congenital contractures, ectodermal dysplasia, cleft lip-palate, and developmental impairment" EXACT [] synonym: "contractures, ectodermal dysplasia, cleft lip palate" EXACT [] xref: MESH:C538135 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:674 ! cleft palate is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9005118 name: Familial Hypersensitivity Pneumonitis alt_id: MIM:145300 xref: MESH:C536846 is_a: DOID:841 ! extrinsic allergic alveolitis [Term] id: DOID:9005119 name: BLISTERING, ACANTHOLYTIC, OF ORAL AND LARYNGEAL MUCOSA def: "A disease characterized by suprabasal acantholytic blisters limited to the oral and laryngeal mucosa." [MIM:619226] synonym: "ABOLM" EXACT [] synonym: "acantholytic blistering of the oral and laryngeal mucosa" EXACT [] xref: MIM:619226 is_a: DOID:786 ! laryngeal disease is_a: DOID:9006894 ! Oral Manifestations is_a: DOID:9008110 ! Blister created_by: slaulede creation_date: 2021-04-06T17:54:55Z [Term] id: DOID:9005120 name: Pigmented Nevus def: "A nevus containing melanin. The term is usually restricted to nevocytic nevi (round or oval collections of melanin-containing nevus cells occurring at the dermoepidermal junction of the skin or in the dermis proper) or moles, but may be applied to other pigmented nevi." [MESH:D009508] synonym: "Melanocytic Nevi" EXACT [] synonym: "Melanocytic Nevus" EXACT [] synonym: "Pigmented Moles" EXACT [] synonym: "Pigmented Nevi" EXACT [] xref: EFO:0009676 xref: MESH:D009508 is_a: DOID:9002969 ! Nevus [Term] id: DOID:9005121 name: Atonic-Astatic Syndrome of Foerster alt_id: MIM:209100 xref: MESH:C565926 is_a: DOID:9004866 ! Ataxia is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:92 ! speech disorder [Term] id: DOID:9005123 name: Baralle-Macken Syndrome synonym: "BARMACS" EXACT [] synonym: "neurodevelopmental disorder with cataracts and variable microcephaly" EXACT [] xref: MIM:619255 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2021-04-13T12:56:25Z [Term] id: DOID:9005124 name: Nonpuerperal Galactorrhea alt_id: MIM:104600 synonym: "Ahumada-Del Castillo syndrome" EXACT [] synonym: "amenorrhea-galactorrhea-FSH decrease syndrome" EXACT [] synonym: "Amenorrhea-Galactorrhea Syndrome" EXACT [] synonym: "Argonz-Ahumada-Del Castillo syndrome" EXACT [] synonym: "Argonz-Del Castillo Syndrome" EXACT [] synonym: "Forbes Albright syndrome" EXACT [] synonym: "Galactorrhea-Amenorrhea without Pregnancy" EXACT [] synonym: "nonpuerperal galactorrhea-amenorrhea" EXACT [] xref: MESH:C537072 is_a: DOID:13938 ! amenorrhea is_a: DOID:9002090 ! Galactorrhea [Term] id: DOID:9005125 name: Lupus Vasculitis, Central Nervous System def: "Central nervous system vasculitis that is associated with SYSTEMIC LUPUS ERYTHEMATOSUS. Clinical manifestations may include DEMENTIA; SEIZURES; CRANIAL NERVE DISEASES; HEMIPARESIS; BLINDNESS; DYSPHASIA; and other neurological disorders." [MESH:D020945] synonym: "Central Nervous System Lupus" EXACT [] synonym: "Central Nervous System Systemic Lupus Erythematosis" EXACT [] synonym: "Lupus Meningoencephalitides" EXACT [] synonym: "Lupus Meningoencephalitis" EXACT [] synonym: "Neuropsychiatric Systemic Lupus Erythematosus" EXACT [] xref: EFO:1001363 xref: MESH:D020945 is_a: DOID:10554 ! meningoencephalitis is_a: DOID:525 ! central nervous system vasculitis is_a: DOID:9074 ! systemic lupus erythematosus [Term] id: DOID:9005126 name: Malonic Aciduria alt_id: MIM:248360 synonym: "DEFICIENCY OF MALONYL-COA DECARBOXYLASE" EXACT [] synonym: "Malonicaciduria" EXACT [] synonym: "Malonyl-CoA decarboxylase deficiency" EXACT [] synonym: "Malonyl-Coenzyme A Decarboxylase Deficiency" EXACT [] xref: MESH:C535702 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9005127 name: germ cell tumor def: "This is a benign or malignant, gonadal or extragonadal neoplasm that originates from germ cells. Representative examples include teratoma, seminoma, embryonal carcinoma, and yolk sac tumor." [NCI:C3708] synonym: "germ cell neoplasm" EXACT [] synonym: "neoplasm of germ cell" EXACT [] synonym: "tumor of germ cell" EXACT [] xref: EFO:0000514 is_a: DOID:9008651 ! reproductive system neoplasm created_by: slaulede creation_date: 2022-09-13T14:41:51Z [Term] id: DOID:9005128 name: Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs alt_id: MIM:601355 xref: MESH:C563341 is_a: DOID:10907 ! microcephaly is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9005129 name: Transient Neonatal Diabetes Mellitus, 2 alt_id: MIM:610374 synonym: "TNDM2" EXACT [] xref: MESH:C563672 is_a: DOID:0060334 ! transient neonatal diabetes mellitus [Term] id: DOID:9005130 name: ABC Disease xref: MESH:C579754 xref: RDO:0015813 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:9005131 name: Metatarsal Valgus def: "A foot anomaly in which the forefoot is angled outward relative to the hindfoot." [MESH:D000070591] synonym: "Metatarsus Valgus" EXACT [] synonym: "Out Toeing" EXACT [] synonym: "Out-Toeings" EXACT [] synonym: "Toeing Outs" EXACT [] xref: MESH:D000070591 xref: RDO:0016058 is_a: DOID:9003938 ! Foot Deformities [Term] id: DOID:9005132 name: Distal Renal Tubular Acidosis, Type 3 alt_id: MIM:267200 synonym: "bicarbonate-wasting RTA" EXACT [] synonym: "renal tubular acidosis III" EXACT [] synonym: "RTA, bicarbonate-wasting type" EXACT [] synonym: "RTA, dislocation type" EXACT [] xref: MESH:C537759 is_a: DOID:9007406 ! Distal Renal Tubular Acidosis [Term] id: DOID:9005133 name: AICAR Transformylase Inosine Monophosphate Cyclohydrolase Deficiency alt_id: MIM:608688 synonym: "AICA-ribosiduria due to ATIC deficiency" EXACT [] synonym: "AICA ribosuria due to ATIC deficiency" EXACT [] synonym: "AICAR transformylase/IMP cyclohydrolase deficiency" EXACT [] synonym: "ATIC deficiency" EXACT [] xref: MESH:C563876 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9005134 name: Plagiocephaly and X-Linked Mental Retardation alt_id: MIM:300064 synonym: "Hyde Forster Mccarthy Berry syndrome" EXACT [] synonym: "Mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" EXACT [] synonym: "X-linked mental retardation, Hyde-Forster type" EXACT [] synonym: "X-linked mental retardation, with craniofacial dysmorphism" EXACT [] xref: MESH:C537512 is_a: DOID:2340 ! craniosynostosis is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9005135 name: Hypospadias-Mental Retardation Syndrome alt_id: MIM:241760 xref: MESH:C563067 is_a: DOID:1059 ! intellectual disability is_a: DOID:10892 ! hypospadias is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9005077 ! Joint Instability [Term] id: DOID:9005136 name: Fraser Jequier Chen Syndrome xref: MESH:C535481 xref: RDO:0000617 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:758 ! situs inversus is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005137 name: Myopathic Carnitine Deficiency alt_id: MIM:212160 xref: GARD:6616 xref: MESH:C536100 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9005138 name: Self-Healing Collodion Baby alt_id: RDO:0014098 xref: MESH:C565473 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:9005139 name: Extensively Drug-Resistant Tuberculosis def: "Tuberculosis resistant to ISONIAZID and RIFAMPIN and at least three of the six main classes of second-line drugs (AMINOGLYCOSIDES; polypeptide agents; FLUOROQUINOLONES; THIOAMIDES; CYCLOSERINE; and PARA-AMINOSALICYLIC ACID) as defined by the CDC." [MESH:D054908] synonym: "Extensively Drug-Resistant Tuberculoses" EXACT [] synonym: "Extremely Drug-Resistant Tuberculoses" EXACT [] synonym: "Extremely Drug Resistant Tuberculosis" EXACT [] synonym: "XDR-TB" EXACT [] xref: MESH:D054908 xref: RDO:0007691 is_a: DOID:401 ! multidrug-resistant tuberculosis [Term] id: DOID:9005140 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ATAXIA, AND SEIZURES synonym: "NEDMAS" EXACT [] synonym: "SARS1-RELATED DISORDERS" EXACT [] xref: MIM:617709 is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:9005141 name: Ventricular Tachycardia def: "An abnormally rapid ventricular rhythm usually in excess of 150 beats per minute. It is generated within the ventricle below the BUNDLE OF HIS, either as autonomic impulse formation or reentrant impulse conduction. Depending on the etiology, onset of ventricular tachycardia can be paroxysmal (sudden) or nonparoxysmal, its wide QRS complexes can be uniform or polymorphic, and the ventricular beating may be independent of the atrial beating (AV dissociation)." [MESH:D017180] synonym: "EFFORT-INDUCED POLYMORPHIC VENTRICULAR TACHYCARDIAS" NARROW [] synonym: "Ventricular Tachycardias" EXACT [] synonym: "VENTRICULAR TACHYCARDIA, SOMATIC" NARROW [] xref: EFO:0005306 xref: MESH:D017180 xref: NCI:C50802 is_a: DOID:9002554 ! Tachycardia [Term] id: DOID:9005142 name: Stomach Volvulus def: "Twisting of the STOMACH that may result in gastric ISCHEMIA and GASTRIC OUTLET OBSTRUCTION. It is often associated with DIAPHRAGMATIC HERNIA." [MESH:D013277] synonym: "Gastric Volvulus" EXACT [] xref: EFO:1001852 xref: MESH:D013277 is_a: DOID:76 ! stomach disease [Term] id: DOID:9005143 name: Atypical Meningioma def: "This is a WHO grade II meningioma characterized by the presence of brain invasion and an increased mitotic activity, or at least three of the following morphologic features: small cells, high cellularity, prominent nucleoli, lack of architectural pattern, and necrosis." [NCI:C4723] xref: EFO:1000101 is_a: DOID:3565 ! meningioma created_by: slaulede creation_date: 2022-10-25T13:50:13Z [Term] id: DOID:9005144 name: Autoimmune Lymphoproliferative Syndrome, Type IA synonym: "ALPS1A" EXACT [] synonym: "Autoimmune lymphoproliferative syndrome, type 1a" EXACT [] xref: MESH:C566613 is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:9005145 name: High Myopia with Cataract and Vitreoretinal Degeneration synonym: "MCVD" EXACT [] synonym: "P3H2-RELATED CONDITION" EXACT [] xref: MIM:614292 is_a: DOID:83 ! cataract is_a: DOID:8466 ! retinal degeneration is_a: DOID:9002189 ! High Myopia [Term] id: DOID:9005147 name: Hydatidiform Mole def: "Trophoblastic hyperplasia associated with normal gestation, or molar pregnancy. It is characterized by the swelling of the CHORIONIC VILLI and elevated human CHORIONIC GONADOTROPIN. Hydatidiform moles or molar pregnancy may be categorized as complete or partial based on their gross morphology, histopathology, and karyotype." [MESH:D006828] synonym: "CHM" EXACT [] synonym: "Complete Hydatidiform Mole" EXACT [] synonym: "complete hydatidiform moles" EXACT [] synonym: "GESTATIONAL TROPHOBLASTIC DISEASE" EXACT [] synonym: "Hydatidiform Moles" EXACT [] synonym: "Hydatid Mole" EXACT [] synonym: "Hydatid Moles" EXACT [] synonym: "HYDM" EXACT [] synonym: "Molar Pregnancies" EXACT [] synonym: "Molar Pregnancy" EXACT [] synonym: "Partial Hydatidiform Mole" EXACT [] synonym: "partial hydatidiform moles" EXACT [] xref: EFO:1000298 xref: MESH:D006828 is_a: DOID:3590 ! gestational trophoblastic neoplasm [Term] id: DOID:9005148 name: Multiple Chronic Conditions def: "Two or more concurrent chronic physical, mental, or behavioral health problems in an individual." [MESH:D000071069] synonym: "Multiple Chronic Disease" EXACT [] synonym: "Multiple Chronic Diseases" EXACT [] synonym: "Multiple Chronic Health Conditions" EXACT [] synonym: "Multiple Chronic Illnesses" EXACT [] synonym: "Multiple Chronic Medical Conditions" EXACT [] xref: MESH:D000071069 xref: RDO:0016071 is_a: DOID:9000144 ! Chronic Disease [Term] id: DOID:9005149 name: Ovary Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the ovaries, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "ovarian ischemia/reperfusion injury" EXACT [] synonym: "ovarian reperfusion injury" EXACT [] synonym: "ovary ischemia/reperfusion injury" EXACT [] xref: RDO:9001208 is_a: DOID:1100 ! ovarian disease is_a: DOID:9004009 ! Reperfusion Injury created_by: rgd creation_date: 2016-06-30T00:00:00Z [Term] id: DOID:9005150 name: Mosaic Variegated Aneuploidy Syndrome 6 def: "An autosomal recessive disorder characterized by poor overall growth with microcephaly and short stature, dysmorphic facial features, and congenital cardiac defects. Caused by homozygous or compound heterozygous mutation in the SMC5 gene on chromosome 9q21." [MIM:620185] synonym: "Atelis syndrome 2" EXACT [] synonym: "ATELS2" EXACT [] synonym: "MVA6" EXACT [] synonym: "POOR GROWTH, MICROCEPHALY, DYSMORPHIC FACIES, AND CARDIAC DEFECTS" EXACT [] xref: MIM:620185 is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:9002682 ! Cardiovascular Abnormalities is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007661 ! Dwarfism created_by: mtutaj creation_date: 2023-01-10T08:30:41Z [Term] id: DOID:9005151 name: Selective Tooth Agenesis 1 synonym: "HYD1" EXACT [] synonym: "Hypodontia Oligodontia 1" EXACT [] synonym: "SECOND PREMOLARS AND THIRD MOLARS, ABSENCE OF" EXACT [] synonym: "STHAG1" EXACT [] synonym: "Tooth agenesis, selective, 1, with or without orofacial cleft" EXACT [] xref: MIM:106600 xref: MONDO:0007129 is_a: DOID:0050591 ! tooth agenesis created_by: mtutaj creation_date: 2019-03-15T13:40:38Z [Term] id: DOID:9005152 name: Junctional Epidermolysis Bullosa 3B, Severe synonym: "JEB3B" EXACT [] synonym: "Junctional Epidermolysis Bullosa 3B, Generalized Severe" EXACT [] synonym: "Junctional Epidermolysis Bullosa 3B, Herlitz Type" EXACT [] synonym: "severe junctional epidermolysis bullosa 3B" EXACT [] xref: MIM:619786 is_a: DOID:0060737 ! junctional epidermolysis bullosa Herlitz type created_by: mtutaj creation_date: 2022-06-07T11:07:02Z [Term] id: DOID:9005153 name: DEGCAGS SYNDROME def: "This disease is an autosomal recessive, syndromic, neurodevelopmental disorder characterized by global developmental delay, coarse and dysmorphic facial features, and poor growth and feeding apparent from infancy." [MIM:619488] synonym: "DEGCAGS" EXACT [] synonym: "DEVELOPMENTAL DELAY WITH GASTROINTESTINAL, CARDIOVASCULAR, GENITOURINARY, AND SKELETAL ABNORMALITIES" EXACT [] xref: MIM:619488 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2021-10-18T13:55:06Z [Term] id: DOID:9005154 name: Myoclonic Epilepsies alt_id: OMIA:002095 def: "A clinically diverse group of epilepsy syndromes characterized either by myoclonic seizures or by myoclonus in association with other seizure types. Myoclonic epilepsy syndromes are divided into three subtypes based on etiology: familial, cryptogenic, and symptomatic (i.e., occurring secondary to known disease processes such as infections, hypoxic-ischemic injuries, trauma, etc.)." [MESH:D004831] synonym: "cryptogenic myoclonic epilepsies" EXACT [] synonym: "Cryptogenic Myoclonic Epilepsy" EXACT [] synonym: "GENERALIZED MYOCLONIC SEIZURES" NARROW [] synonym: "idiopathic myoclonic epilepsies" EXACT [] synonym: "Idiopathic Myoclonic Epilepsy" EXACT [] synonym: "myoclonia epileptica" EXACT [] synonym: "Myoclonic Absence Epilepsies" EXACT [] synonym: "Myoclonic Absence Epilepsy" EXACT [] synonym: "MYOCLONIC ABSENCE SEIZURE" EXACT [] synonym: "Myoclonic Astatic Epilepsies" EXACT [] synonym: "Myoclonic Astatic Epilepsy" EXACT [] synonym: "Myoclonic Encephalopathies" EXACT [] synonym: "Myoclonic Encephalopathy" EXACT [] synonym: "Myoclonic Epilepsy" EXACT [] synonym: "myoclonic epileptic seizures" EXACT [] synonym: "myoclonic seizure" EXACT [] synonym: "Myoclonic Seizure Disorder" EXACT [] synonym: "Myoclonic Seizure Disorders" EXACT [] synonym: "Myoclonus Epilepsies" EXACT [] synonym: "myoclonus epilepsy" EXACT [] synonym: "symptomatic myoclonic epilepsies" EXACT [] synonym: "symptomatic myoclonic epilepsy" EXACT [] xref: EFO:1001900 xref: MESH:D004831 is_a: DOID:1826 ! epilepsy is_a: DOID:9007722 ! Myoclonus [Term] id: DOID:9005155 name: Amelia, Autosomal Recessive alt_id: MIM:601360 synonym: "PAPPAS" EXACT [] synonym: "posterior amelia with pelvic and pulmonary hypoplasia syndrome" EXACT [] synonym: "TBX4-RELATED CONDITION" BROAD [] xref: MESH:C563338 is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9005158 name: Cushing Syndrome alt_id: DOID:12252 def: "A condition caused by prolonged exposure to excess levels of cortisol (HYDROCORTISONE) or other GLUCOCORTICOIDS from endogenous or exogenous sources. It is characterized by upper body OBESITY; OSTEOPOROSIS; HYPERTENSION; DIABETES MELLITUS; HIRSUTISM; AMENORRHEA; and excess body fluid. Endogenous Cushing syndrome or spontaneous hypercortisolism is divided into two groups, those due to an excess of ADRENOCORTICOTROPIN and those that are ACTH-independent." [] synonym: "Cushing's syndrome" EXACT [] synonym: "Cushing syndrome" EXACT [] xref: EFO:0003099 xref: MESH:D003480 is_a: DOID:225 ! syndrome is_a: DOID:3947 ! adrenal gland hyperfunction created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:9005159 name: Brachial Palsy, Familial Congenital alt_id: MIM:608585 xref: MESH:C563901 xref: RDO:0013035 is_a: DOID:3690 ! brachial plexus neuropathy [Term] id: DOID:9005160 name: Myofibrillar Myopathy, ZASP-Related alt_id: RDO:0012905 synonym: "MFM, Zasp-related" EXACT [] xref: MESH:C563718 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9005161 name: Thymus Neoplasms alt_id: RDO:0002627 def: "Tumors or cancer of the THYMUS GLAND." [MESH:D013953] synonym: "neoplasm of thymus" EXACT [] synonym: "thymic neoplasm" EXACT [] synonym: "thymic neoplasms" EXACT [] synonym: "thymic tumor" EXACT [] synonym: "thymic tumors" EXACT [] synonym: "Thymus Neoplasm" EXACT [] synonym: "Thymus Tumor" EXACT [] synonym: "Thymus Tumors" EXACT [] xref: EFO:0002626 xref: MESH:D013953 xref: NCI:C3412 is_a: DOID:533 ! thymus gland disease is_a: DOID:9007920 ! Thoracic Neoplasms [Term] id: DOID:9005162 name: Familial Atrial Fibrillation 1 synonym: "Atfb1" EXACT [] synonym: "Autosomal dominant atrial fibrillation" EXACT [] xref: MESH:C538261 xref: MIM:608583 xref: MONDO:0012066 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9005163 name: Chromosome 15q, Tetrasomy synonym: "Tetrasomy 15q" EXACT [] xref: MESH:C538039 xref: RDO:0003973 is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9005164 name: Primary Congenital Glaucoma 3, E synonym: "GLC3E" EXACT [] synonym: "primary congenital glaucoma-3E" EXACT [] synonym: "TEK-RELATED CONDITION" BROAD [] xref: MIM:617272 is_a: DOID:0050593 ! primary congenital glaucoma [Term] id: DOID:9005165 name: Deaf-Blind Disorders def: "The absence of both hearing and vision." [MESH:D054062] synonym: "Blind-Deaf Disorder" EXACT [] synonym: "Blindness Deafness" EXACT [] synonym: "Deaf-Blindness Disorder" EXACT [] synonym: "Deaf Blindness Disorders" EXACT [] synonym: "Deaf-Blind Syndrome" EXACT [] synonym: "Deaf Blind Syndromes" EXACT [] synonym: "Deaf-Mutism-Blind Disorder" EXACT [] synonym: "Deaf Mutism Blind Disorders" EXACT [] synonym: "Hearing and Vision Loss" EXACT [] synonym: "Prelingual Deaf-Blind Disorder" EXACT [] synonym: "Prelingual Deaf Blind Disorders" EXACT [] synonym: "Prelingual Deafness Blindness" EXACT [] synonym: "Prelingual Deafness-Blindnesses" EXACT [] xref: MESH:D054062 is_a: DOID:1432 ! blindness is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9005166 name: Contusions def: "Injuries resulting in hemorrhage, usually manifested in the skin." [MESH:D003288] synonym: "Bruise" EXACT [] synonym: "Bruises" EXACT [] synonym: "Contusion" EXACT [] xref: MESH:D003288 is_a: DOID:9006659 ! Nonpenetrating Wounds [Term] id: DOID:9005167 name: Cryptogenic Cirrhosis alt_id: RDO:0012230 xref: MESH:C562577 is_a: DOID:5082 ! liver cirrhosis [Term] id: DOID:9005169 name: Complement Factor B Deficiency synonym: "CFBD" EXACT [] xref: MIM:615561 is_a: DOID:626 ! complement deficiency [Term] id: DOID:9005170 name: polyagglutination def: "This is a hematopoietic system disease condition that is characterized by red blood cells that agglutinate upon exposure to almost all samples of human sera from adults but not by autologous serum or sera of newborns." [PMID:10791887] is_a: DOID:74 ! hematopoietic system disease created_by: slaulede creation_date: 2023-05-05T07:58:02Z [Term] id: DOID:9005171 name: Acute Uveitis def: "Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, having a quick onset and relatively short course." [] is_a: DOID:13141 ! uveitis [Term] id: DOID:9005172 name: Lung Neoplasms def: "Tumors of the LUNG." [MESH:D008175] synonym: "CYP2A6*4A" RELATED [] synonym: "lung neoplasm" EXACT [] synonym: "pulmonary neoplasm" EXACT [] synonym: "pulmonary neoplasms" EXACT [] xref: MESH:D008175 is_a: DOID:850 ! lung disease is_a: DOID:9003744 ! Respiratory Tract Neoplasms [Term] id: DOID:9005173 name: Microphthalmia and Mental Deficiency synonym: "colobomatous microphthalmia" EXACT [] synonym: "microphthalmos, severe mental retardation, and spastic cerebral palsy" EXACT [] synonym: "Pinsky DiGeorge Harley syndrome" EXACT [] xref: MESH:C537462 is_a: DOID:1059 ! intellectual disability is_a: DOID:10629 ! microphthalmia is_a: DOID:10907 ! microcephaly is_a: DOID:12270 ! coloboma is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:9005174 name: Acute Malaria synonym: "Chronic malaria" EXACT [] xref: MESH:C531736 is_a: DOID:12365 ! malaria [Term] id: DOID:9005175 name: Ulcer def: "A lesion on the surface of the skin or a mucous surface, produced by the sloughing of inflammatory necrotic tissue." [MESH:D014456] synonym: "Ulcers" EXACT [] xref: MESH:D014456 xref: MONDO:0043839 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9005176 name: Retroperitoneal Fibrosis def: "A slowly progressive condition of unknown etiology, characterized by deposition of fibrous tissue in the retroperitoneal space compressing the ureters, great vessels, bile duct, and other structures. When associated with abdominal aortic aneurysm, it may be called chronic periaortitis or inflammatory perianeurysmal fibrosis." [MESH:D012185] synonym: "chronic periaortitides" EXACT [] synonym: "Chronic Periaortitis" EXACT [] synonym: "Idiopathic Retroperitoneal Fibrosis" EXACT [] synonym: "Inflammatory Perianeurysmal Fibrosis" EXACT [] synonym: "Ormond's Disease" EXACT [] synonym: "Ormond Disease" EXACT [] synonym: "retroperitoneal fibroses" EXACT [] xref: MESH:D012185 is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:9005177 name: Bahemuka Brown Syndrome synonym: "Spastic paraplegia facial cutaneous lesions" EXACT [] xref: MESH:C537797 is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:2723 ! dermatitis is_a: DOID:9001722 ! Dysarthria is_a: DOID:9005219 ! Abnormal Reflexes [Term] id: DOID:9005178 name: Combined Pituitary Hormone Deficiency 8 def: "An autosomal dominant disorder characterized by deficiency of one or more of the pituitary hormones. Affected individuals have short stature due to growth hormone deficiency with variable deficiencies of other pituitary hormones, including TSH ACTH, and LH/FSH. Caused by heterozygous mutation in the ROBO1 gene on chromosome 3p12." [MIM:620303] synonym: "CPHD8" EXACT [] synonym: "Pituitary hormone deficiency, combined or isolated, 8" EXACT [] xref: MIM:620303 is_a: DOID:9410 ! panhypopituitarism created_by: mtutaj creation_date: 2023-04-10T08:43:35Z [Term] id: DOID:9005179 name: Chronic Brain Injury def: "Conditions characterized by persistent brain damage or dysfunction as sequelae of cranial trauma. This disorder may result from DIFFUSE AXONAL INJURY; INTRACRANIAL HEMORRHAGES; BRAIN EDEMA; and other conditions. Clinical features may include DEMENTIA; focal neurologic deficits; PERSISTENT VEGETATIVE STATE; AKINETIC MUTISM; or COMA." [MESH:D020208] synonym: "Chronic Brain Injuries" EXACT [] xref: MESH:D020208 is_a: DOID:9000998 ! Brain Injuries is_a: DOID:9008381 ! Chronic Brain Damage [Term] id: DOID:9005180 name: Premature Aging, Okamoto Type xref: MESH:C535270 xref: RDO:0000248 is_a: DOID:11476 ! osteoporosis is_a: DOID:3347 ! osteosarcoma is_a: DOID:83 ! cataract is_a: DOID:9002644 ! Premature Aging is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9005181 name: Multi-Infarct Dementia def: "Loss of higher cortical functions with retained awareness due to multiple cortical or subcortical CEREBRAL INFARCTION. Memory, judgment, attention span, and impulse control are often impaired, and may be accompanied by PSEUDOBULBAR PALSY; HEMIPARESIS; reflex abnormalities, and other signs of localized neurologic dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p1060)" [MESH:D015161] synonym: "Dementia Multi-Infarcts" EXACT [] synonym: "Lacunar Dementia" EXACT [] synonym: "lacunar dementias" EXACT [] synonym: "multiinfarct dementia" EXACT [] synonym: "multi-infarct dementias" EXACT [] synonym: "multiinfarct dementias" EXACT [] xref: MESH:D015161 is_a: DOID:3526 ! cerebral infarction is_a: DOID:8725 ! vascular dementia [Term] id: DOID:9005182 name: Chemotherapy-induced nausea and vomiting synonym: "Chemotherapy disorder" EXACT [] synonym: "Chemotherapy induced vomiting" NARROW [] synonym: "Chemotherapy sickness" EXACT [] xref: EFO:0006911 is_a: DOID:9004751 ! Nausea is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions is_a: DOID:9008385 ! Vomiting created_by: slaulede creation_date: 2022-12-30T11:26:52Z [Term] id: DOID:9005184 name: Heyn-Sproul-Jackson Syndrome synonym: "HESJAS" EXACT [] xref: MIM:618724 is_a: DOID:10907 ! microcephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2020-01-06T07:50:11Z [Term] id: DOID:9005185 name: Ichthyosis Cheek Eyebrow Syndrome alt_id: MIM:146720 synonym: "ICE Syndrome" EXACT [] synonym: "Sidransky Feinstein Goodman syndrome" EXACT [] xref: MESH:C536084 is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005186 name: RESPIRATORY INFECTIONS, RECURRENT, AND FAILURE TO THRIVE WITH OR WITHOUT DIARRHEA def: "This disease is characterized by neonatal onset of chronic cough, episodic wheezing, recurrent lower respiratory tract infections, chronic diarrhea, and failure to thrive. Despite the resemblance to cystic fibrosis, these patients have normal sweat chloride and pancreatic elastase tests." [MIM:620233] synonym: "RIFTD" EXACT [] xref: MIM:620233 is_a: DOID:13250 ! diarrhea is_a: DOID:9008680 ! Respiratory Tract Infections created_by: slaulede creation_date: 2023-05-11T13:53:43Z [Term] id: DOID:9005187 name: Dandy-Walker Malformation with Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy alt_id: MIM:220219 synonym: "Facial dysmorphism, macrocephaly, myopia and Dandy-Walker malformation" EXACT [] xref: MESH:C535985 is_a: DOID:11830 ! myopia is_a: DOID:2785 ! Dandy-Walker syndrome [Term] id: DOID:9005188 name: Thoraco Limb Dysplasia Rivera Type synonym: "Rivera Perez Salas syndrome" EXACT [] xref: MESH:C536516 is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9005189 name: Vacuolar Myopathy alt_id: MIM:609500 alt_id: MIM:616231 synonym: "Autophagic vacuolar myopathy" EXACT [] synonym: "CASQ1-RELATED CONDITION" EXACT [] synonym: "Myopathy, Autophagic Vacuolar, Infantile-Onset" EXACT [] synonym: "vacuolar myopathy with CASQ1 aggregates" NARROW [] synonym: "VMCQA" NARROW [] xref: MESH:C536522 is_a: DOID:0080000 ! muscular disease is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:9005190 name: Juberg Hayward Syndrome alt_id: MIM:216100 synonym: "cleft lip/palate with radial head and digital anomalies" EXACT [] synonym: "cleft lip-palate with abnormal thumbs and microcephaly" EXACT [] synonym: "cranio-oro-digital syndrome" EXACT [] synonym: "ESCO2-RELATED CONDITION" BROAD [] synonym: "JHS" EXACT [] synonym: "orocraniodigital syndrome" EXACT [] xref: MESH:C537690 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:4501 ! orofaciodigital syndrome is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005191 name: Linear IgA Bullous Dermatosis def: "Autoimmune disease characterized by subepidermal blisters and linear deposition of autoantibodies at the dermoepidermal junction. The accumulated autoantibodies are of IMMUNOGLOBULIN A and occasionally IMMUNOGLOBULIN G classes against epidermal BASEMENT MEMBRANE proteins. The dermatosis is sometimes associated with malignancies and use of certain drugs (e.g., VANCOMYCIN)." [MESH:D062027] synonym: "Chronic Bullous Disease of Childhood" EXACT [] synonym: "Drug induced Linear IgA Bullous Dermatosis" EXACT [] synonym: "Drug induced Linear IgA Dermatosis" EXACT [] synonym: "Linear IgA Dermatoses" EXACT [] synonym: "Linear IgA Dermatosis" EXACT [] synonym: "Linear IgA IgG Bullous Dermatosis" EXACT [] synonym: "Linear IgA IgG Dermatosis" EXACT [] xref: EFO:0009313 xref: MESH:D062027 is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:417 ! autoimmune disease [Term] id: DOID:9005192 name: Arena Syndrome synonym: "Spastic paraplegia with iron deposits in basal ganglia" EXACT [] xref: MESH:C537428 is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9005193 name: Osteochondroma def: "A cartilage-capped benign tumor that often appears as a stalk on the surface of bone. It is probably a developmental malformation rather than a true neoplasm and is usually found in the metaphysis of the distal femur, proximal tibia, or proximal humerus. Osteochondroma is the most common of benign bone tumors." [MESH:D015831] synonym: "Cartilaginous Exostoses" EXACT [] synonym: "Cartilaginous Exostosis" EXACT [] synonym: "Chondrosteoma" EXACT [] synonym: "Chondrosteomas" EXACT [] synonym: "Osteocartilaginous Exostoses" EXACT [] synonym: "Osteocartilaginous Exostosis" EXACT [] synonym: "Osteochondromas" EXACT [] xref: EFO:1000411 xref: MESH:D015831 xref: NCI:C3295 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:2602 ! chondroma is_a: DOID:9007603 ! Bone Tissue Neoplasms [Term] id: DOID:9005194 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES def: "A severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination. (OMIM)" [] synonym: "NMIHBA" EXACT [] xref: MIM:617481 is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: rgd creation_date: 2017-06-20T00:00:00Z [Term] id: DOID:9005196 name: Autosomal Dominant Intellectual Developmental Disorder 68 def: "Characterized by developmental delay/intellectual disability, microcephaly, poor growth, feeding difficulties, and dysmorphic features. Caused by heterozygous mutation in the KMT2B gene on chromosome 19q13." [] synonym: "autosomal dominant mental retardation 68" EXACT [] synonym: "KMT2B-RELATED CONDITION" BROAD [] synonym: "MRD68" EXACT [] xref: MIM:619934 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2022-07-18T10:59:04Z [Term] id: DOID:9005197 name: X-Linked Immunodeficiency with Deficiency of 115,000 Dalton Surface Glycoprotein alt_id: MIM:308220 synonym: "Gpl115 Deficiency" EXACT [] xref: MESH:C564120 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9005198 name: Chromosome 3, Trisomy 3p synonym: "Duplication 3p" EXACT [] synonym: "Trisomy 3p" EXACT [] xref: MESH:C536811 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9005199 name: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY synonym: "BENTA" EXACT [] xref: MIM:616452 is_a: DOID:9000756 ! Persistent Polyclonal B-Cell Lymphocytosis [Term] id: DOID:9005201 name: Oocyte/Zygote/Embryo Maturation Arrest 17 def: "A female infertility due to arrest of the embryo after the first rounds of cleavage or failure to establish pregnancy after implantation. Caused by homozygous or compound heterozygous mutation in the KPNA7 gene on chromosome 7q22." [MIM:620319] synonym: "OZEMA17" EXACT [] xref: MIM:620319 xref: MONDO:0957220 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2023-04-11T09:48:57Z [Term] id: DOID:9005202 name: Primary Ciliary Dyskinesia 48 def: "An autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to impaired ciliary movement and clearance. Caused by homozygous mutation in the NME5 gene on chromosome 5q31." [] synonym: "CILD48" EXACT [] synonym: "primary ciliary dyskinesia-48 without situs inversus" EXACT [] xref: MIM:620032 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: mtutaj creation_date: 2022-09-16T12:01:26Z [Term] id: DOID:9005203 name: Periventricular Nodular Heterotopia 3 alt_id: MIM:608098 alt_id: RDO:0013308 synonym: "Periventricular Heterotopia associated with Chromosome 5p Anomalies" EXACT [] synonym: "PVNH3" EXACT [] xref: MESH:C564291 is_a: DOID:0050454 ! periventricular nodular heterotopia [Term] id: DOID:9005204 name: Persistent Hyperplastic Primary Vitreous, Autosomal Recessive alt_id: MESH:C565633 alt_id: MESH:C566717 alt_id: MIM:221900 synonym: "congenital detachment of retina" EXACT [] synonym: "NCRNA" EXACT [] synonym: "nonsyndromic congenital retinal nonattachment" EXACT [] synonym: "persistent fetal vasculature" EXACT [] synonym: "PHPVAR" EXACT [] synonym: "retinal nonattachment and falciform detachment" EXACT [] synonym: "RNANC" EXACT [] xref: MESH:C566966 is_a: DOID:0060282 ! persistent hyperplastic primary vitreous is_a: DOID:5327 ! retinal detachment is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9005205 name: Hereditary Benign Intraepithelial Dyskeratosis alt_id: MIM:127600 synonym: "DKBI" EXACT [] synonym: "HBID" EXACT [] xref: MESH:C562551 is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9005206 name: Chromosome 21, Uniparental Disomy of synonym: "Mosaic trisomy 21" EXACT [] synonym: "Uniparental disomy of 21" EXACT [] xref: MESH:C536794 xref: RDO:0002485 is_a: DOID:9003960 ! Trisomy is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9005207 name: Nasopharyngeal Neoplasms alt_id: RDO:0004305 def: "Tumors or cancer of the NASOPHARYNX." [] synonym: "Nasopharyngeal Neoplasm" EXACT [] synonym: "nasopharynx neoplasm" EXACT [] synonym: "nasopharynx neoplasms" EXACT [] xref: EFO:0004252 xref: MESH:D009303 is_a: DOID:9002346 ! Pharyngeal Neoplasms is_a: DOID:9561 ! nasopharyngeal disease [Term] id: DOID:9005208 name: Tunglang Savage Bellman Syndrome synonym: "Hearing loss and familial salivary gland insensitivity to aldosterone" EXACT [] synonym: "Hearing loss insensitivity to aldosterone" EXACT [] xref: MESH:C536927 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10854 ! salivary gland disease is_a: DOID:225 ! syndrome is_a: DOID:4479 ! pseudohypoaldosteronism [Term] id: DOID:9005209 name: Usher Syndrome Type 4 def: "This disease is an atypical form of Usher syndrome. It is an autosomal recessive disorder characterized by late onset of retinitis pigmentosa and usually late-onset of progressive sensorineural hearing loss without vestibular involvement." [] synonym: "ARSG-RELATED CONDITION" EXACT [] synonym: "USH4" EXACT [] synonym: "Usher syndrome type IV" EXACT [] xref: MIM:618144 is_a: DOID:0050439 ! Usher syndrome created_by: mtutaj creation_date: 2019-02-08T15:26:10Z [Term] id: DOID:9005210 name: Ingrown Nails alt_id: RDO:0006179 def: "Excessive lateral nail growth into the nail fold. Because the lateral margin of the nail acts as a foreign body, inflammation and granulation may result. It is caused by improperly fitting shoes and by improper trimming of the nail." [MESH:D009263] synonym: "Ingrown Nail" EXACT [] xref: MESH:D009263 is_a: DOID:4123 ! nail disease [Term] id: DOID:9005211 name: Pfeiffer Tietze Welte Syndrome xref: MESH:C537891 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005212 name: Posterior Tibial Tendon Dysfunction def: "A condition characterized by a broad range of progressive disorders ranging from TENOSYNOVITIS to tendon rupture with or without hindfoot collapse to a fixed, rigid, FLATFOOT deformity. Pathologic changes can involve associated tendons, ligaments, joint structures of the ANKLE, hindfoot, and midfoot. Posterior tibial tendon dysfunction is the most common cause of acquired flatfoot deformity in adults." [MESH:D037081] synonym: "Posterior Tibial Tendon Insufficiency" EXACT [] synonym: "Tibialis Posterior Dysfunction" EXACT [] xref: MESH:D037081 xref: RDO:0007492 is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:9005213 name: Dysmyelinating Leukodystrophy with Oligodontia synonym: "dentoleukoencephalopathy" EXACT [] xref: MESH:C564344 is_a: DOID:13714 ! anodontia is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:9005214 name: Anatomical Pathological Conditions def: "An abnormal structural condition of the human body, usually macroscopic, that is common to a variety of different diseases." [] synonym: "Anatomical Pathological Condition" EXACT [] xref: MESH:D020763 is_a: DOID:9000298 ! Pathological Conditions, Signs and Symptoms [Term] id: DOID:9005215 name: Hypochromic Microcytic Anemia with Iron Overload 1 alt_id: RDO:0015298 synonym: "AHMIO1" EXACT [] synonym: "ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 1" EXACT [] synonym: "SLC11A2-RELATED CONDITION" EXACT [] xref: MIM:206100 is_a: DOID:8955 ! sideroblastic anemia is_a: DOID:9001631 ! Hypochromic Microcytic Anemia with Iron Overload [Term] id: DOID:9005216 name: Infantile Hypercalcemia xref: MESH:C562999 is_a: DOID:12678 ! hypercalcemia is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9005217 name: ALZAHRANI-KUWAHARA SYNDROME def: "This disease is an autosomal recessive, neurodevelopmental syndrome characterized by global developmental delay with severely impaired intellectual function and poor or absent speech. Patients have poor overall growth and dysmorphic facial features." [MIM:619268] synonym: "ALKUS" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CATARACTS" EXACT [] xref: MIM:619268 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2021-05-11T13:04:55Z [Term] id: DOID:9005218 name: Boudhina Yedes Khiari syndrome xref: MESH:C537939 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9005219 name: Abnormal Reflexes alt_id: MIM:145290 def: "An abnormal response to a stimulus applied to the sensory components of the nervous system. This may take the form of increased, decreased, or absent reflexes." [MESH:D012021] synonym: "Abnormal Deep Tendon Reflex" EXACT [] synonym: "Abnormal Reflex" EXACT [] synonym: "Absent Reflex" EXACT [] synonym: "Bulbocavernousus Reflex Absent" EXACT [] synonym: "Decreased Bulbocavernosus Reflex" EXACT [] synonym: "Decreased Reflex" EXACT [] synonym: "Hoffman's Reflex" EXACT [] synonym: "HRX" EXACT [] synonym: "Hyperreflexia" EXACT [] synonym: "Hyporeflexia" EXACT [] synonym: "Moro Reflex, Asymmetric" EXACT [] synonym: "Palmo Mental Reflex" EXACT [] synonym: "Pendular Reflex" EXACT [] synonym: "Reflex, Acoustic, Abnormal" EXACT [] synonym: "Reflex, Anal, Absent" EXACT [] synonym: "Reflex, Anal, Decreased" EXACT [] synonym: "Reflex, Ankle, Abnormal" EXACT [] synonym: "Reflex, Ankle, Absent" EXACT [] synonym: "Reflex, Ankle, Decreased" EXACT [] synonym: "Reflex, Biceps, Abnormal" EXACT [] synonym: "Reflex, Biceps, Absent" EXACT [] synonym: "Reflex, Biceps, Decreased" EXACT [] synonym: "Reflex, Corneal, Absent" EXACT [] synonym: "Reflex, Corneal, Decreased" EXACT [] synonym: "Reflex, Deep Tendon, Absent" EXACT [] synonym: "Reflex, Gag, Absent" EXACT [] synonym: "Reflex, Gag, Decreased" EXACT [] synonym: "Reflex, Knee, Abnormal" EXACT [] synonym: "Reflex, Knee, Decreased" EXACT [] synonym: "Triceps Reflex, Abnormal" EXACT [] synonym: "Triceps Reflex, Absent" EXACT [] synonym: "Triceps Reflex, Decreased" EXACT [] xref: MESH:D012021 is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9005220 name: Waterborne Diseases def: "Illnesses due to micro-organisms and chemicals in drinking water, those caused by organisms having part of their lifecycle in water or those with water-related vectors, and others spread by aerosols containing pathogens." [MESH:D000069578] synonym: "Waterborne Disease" EXACT [] synonym: "Water-related Disease" EXACT [] synonym: "Water related Diseases" EXACT [] xref: MESH:D000069578 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:9005221 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 1 synonym: "PFBMFT1" EXACT [] synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 1" EXACT [] xref: EFO:1001501 xref: MIM:614742 is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related [Term] id: DOID:9005222 name: Absence of Vagina synonym: "Vaginal agenesis" EXACT [] xref: MESH:C536523 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9005223 name: Ribose 5-Phosphate Isomerase Deficiency synonym: "DEFICIENCY OF RIBOSE-5-PHOSPHATE ISOMERASE" EXACT [] synonym: "Ribose-5-P isomerase deficiency" EXACT [] xref: MESH:C563212 xref: MIM:608611 xref: MONDO:0012073 xref: ORDO:440706 is_a: DOID:1389 ! polyneuropathy is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:9005225 name: Pigmentary Retinopathy and Sensorineural Deafness xref: RDO:9000753 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9005226 name: Coxa Vara alt_id: MIM:122750 def: "Hip deformity in which the femoral neck leans forward resulting in a decrease in the angle between femoral neck and its shaft. It may be congenital often syndromic, acquired, or developmental." [MESH:D060905] synonym: "Acquired Coxa Vara" EXACT [] synonym: "Acquired Coxa Varas" EXACT [] synonym: "Acquired Coxa Varus" EXACT [] synonym: "Congenital Coxa Vara" EXACT [] synonym: "Congenital Coxa Varas" EXACT [] synonym: "Congenital Coxa Varus" EXACT [] synonym: "Coxa Varas" EXACT [] synonym: "Coxa Varus" EXACT [] synonym: "Developmental Coxa Vara" EXACT [] synonym: "Developmental Coxa Varas" EXACT [] synonym: "Developmental Coxa Varus" EXACT [] synonym: "Infantile Coxa Vara" EXACT [] synonym: "Infantile Coxa Varas" EXACT [] xref: EFO:1001298 xref: MESH:D060905 is_a: DOID:9000114 ! Bone Anteversion [Term] id: DOID:9005227 name: Moraxellaceae Infections alt_id: RDO:0004709 def: "Infections with bacteria of the family MORAXELLACEAE." [MESH:D045828] synonym: "Moraxellaceae Infection" EXACT [] synonym: "Moraxellaceae infectious disease" EXACT [] synonym: "Moraxella Infection" EXACT [] synonym: "Moraxella Infections" EXACT [] synonym: "opportunistic Moraxellaceae infectious disease" EXACT [] synonym: "Psychobacter Infection" EXACT [] synonym: "Psychobacter Infections" EXACT [] xref: EFO:1001072 xref: MESH:D045828 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9005228 name: Musculoskeletal Pain def: "Discomfort stemming from muscles, LIGAMENTS, tendons, and bones." [MESH:D059352] synonym: "Musculoskeletal Pains" EXACT [] xref: MESH:D059352 xref: RDO:0010011 is_a: DOID:0080000 ! muscular disease is_a: DOID:9000641 ! Pain [Term] id: DOID:9005230 name: Autosomal Dominant Deafness 4 alt_id: RDO:0012708 synonym: "DFNA4" EXACT [] xref: MESH:C563460 is_a: DOID:0050564 ! autosomal dominant nonsyndromic deafness [Term] id: DOID:9005231 name: Self-Limited Delayed Puberty def: "This is a disease characterized by delayed development of Tanner stage G2 accompanied by low serum gonadotropins. Affected individuals experience spontaneous attainment of Tanner stage G4 by 18 years of age, with normalization of gonadotropins, which excludes a diagnosis of hypogonadotropic hypogonadism." [MIM:619613] synonym: "CONSTITUTIONAL DELAY OF PUBERTY" EXACT [] synonym: "DPSL" EXACT [] xref: MIM:619613 is_a: DOID:9001239 ! Delayed Puberty created_by: slaulede creation_date: 2022-02-04T11:09:18Z [Term] id: DOID:9005232 name: Reticular Dystrophy of Retinal Pigment Epithelium alt_id: MIM:179840 xref: MESH:C566721 is_a: DOID:14252 ! dystrophies primarily involving the retinal pigment epithelium is_a: DOID:8501 ! fundus dystrophy [Term] id: DOID:9005233 name: Experimental Mammary Neoplasms def: "Experimentally induced mammary neoplasms in animals to provide a model for studying human BREAST NEOPLASMS." [MESH:D008325] synonym: "Experimental Mammary Neoplasm" EXACT [] xref: MESH:D008325 is_a: DOID:9000403 ! Animal Mammary Neoplasms is_a: DOID:9002170 ! Experimental Neoplasms [Term] id: DOID:9005234 name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27 def: "Characterized by progressive muscle weakness primarily affecting the lower limbs and resulting in walking difficulty or loss of ambulation. Caused by homozygous or compound heterozygous mutation in the JAG2 gene on chromosome 14q32." [MIM:619566] synonym: "LGMDR27" EXACT [] synonym: "MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 27" EXACT [] xref: MIM:619566 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: mtutaj creation_date: 2021-10-27T16:01:44Z [Term] id: DOID:9005236 name: Drug Eruptions def: "Adverse cutaneous reactions caused by ingestion, parenteral use, or local application of a drug. These may assume various morphologic patterns and produce various types of lesions." [MESH:D003875] synonym: "Dermatitis, Adverse Drug Reaction" EXACT [] synonym: "Dermatitis Medicamentosa" EXACT [] synonym: "Drug Eruption" EXACT [] synonym: "Maculopapular Drug Eruption" EXACT [] synonym: "Maculopapular Drug Eruptions" EXACT [] synonym: "Maculopapular Exanthem" EXACT [] synonym: "Maculopapular Exanthems" EXACT [] synonym: "Morbilliform Drug Reaction" EXACT [] synonym: "Morbilliform Drug Reactions" EXACT [] synonym: "Morbilliform Exanthem" EXACT [] synonym: "Morbilliform Exanthems" EXACT [] xref: MESH:D003875 is_a: DOID:0060500 ! drug allergy is_a: DOID:2723 ! dermatitis [Term] id: DOID:9005238 name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND ISCHIOPUBIC HYPOPLASIA def: "This disease is an autosomal recessive disorder characterized by dysmorphic facies, ischiopubic hypoplasia, and moderate to severe global developmental delay. Affected individuals show episodic regression during periods of stress, including seizures or infection. Brain imaging shows diminished white matter volume, enlarged ventricles, and thin corpus callosum." [MIM:620210] synonym: "NEDFIH" EXACT [] xref: MIM:620210 is_a: DOID:0080006 ! bone development disease is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2023-05-02T08:46:53Z [Term] id: DOID:9005241 name: Lewy Body Variant of Alzheimer's Disease synonym: "Lewy Body Variant of Alzheimer Disease" EXACT [] xref: MESH:C565078 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:9005242 name: Progressive Encephalopathy with Amyotrophy and Optic Atrophy def: "A severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. (OMIM)" [] synonym: "PEAMO" EXACT [] xref: MIM:617207 is_a: DOID:12377 ! spinal muscular atrophy is_a: DOID:5723 ! optic atrophy is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:936 ! brain disease [Term] id: DOID:9005243 name: Membranous Subaortic Stenosis alt_id: MIM:271950 xref: MESH:C564793 is_a: DOID:1682 ! congenital heart disease is_a: DOID:5804 ! discrete subaortic stenosis [Term] id: DOID:9005244 name: Vacuolar Neuromyopathy alt_id: MIM:601846 synonym: "MDRV" EXACT [] synonym: "Muscular Dystrophy, Autosomal Dominant, With Rimmed Vacuoles" EXACT [] xref: MESH:C566617 xref: RDO:0014927 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9005245 name: Hyperimmunoglobulin G1(A1) Syndrome alt_id: MIM:144120 xref: MESH:C564173 xref: RDO:0013220 is_a: DOID:225 ! syndrome is_a: DOID:9005358 ! Hypergammaglobulinemia [Term] id: DOID:9005246 name: Paralysis def: "A general term most often used to describe severe or complete loss of muscle strength due to motor system disease from the level of the cerebral cortex to the muscle fiber. This term may also occasionally refer to a loss of sensory function. (From Adams et al., Principles of Neurology, 6th ed, p45)" [MESH:D010243] synonym: "Palsies" EXACT [] synonym: "Palsy" EXACT [] synonym: "Paralyses" EXACT [] synonym: "Plegia" EXACT [] synonym: "Plegias" EXACT [] synonym: "Todd's Paralysis" EXACT [] synonym: "Todd Paralysis" EXACT [] synonym: "Todds Paralysis" EXACT [] xref: EFO:1000631 xref: MESH:D010243 is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9005247 name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 4 def: "An autosomal recessive neurologic disorder characterized by macrocephaly in infancy associated with developmental delay, delayed walking, variable cognitive decline, behavioral abnormalities, and early-onset seizures. Caused by homozygous mutation in the AQP4 gene on chromosome 18q11." [MIM:620448] synonym: "Megalencephalic leukoencephalopathy with subcortical cysts 4, remitting" EXACT [] synonym: "MLC4" EXACT [] xref: MIM:620448 is_a: DOID:0080315 ! megalencephalic leukoencephalopathy with subcortical cysts created_by: mtutaj creation_date: 2023-07-25T09:53:48Z [Term] id: DOID:9005249 name: Immunodeficiency 103 synonym: "CANDF2" EXACT [] synonym: "CARD9 IMMUNODEFICIENCY" EXACT [] synonym: "Familial Candidiasis 2" EXACT [] synonym: "IMD103" EXACT [] synonym: "Immunodeficiency 103, susceptibility to fungal infections" EXACT [] xref: MIM:212050 is_a: DOID:2058 ! chronic mucocutaneous candidiasis is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9005250 name: Groll Hirschowitz Syndrome alt_id: MIM:221400 synonym: "Deafness, Nerve Type, with Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy" EXACT [] xref: MESH:C537305 is_a: DOID:0060140 ! cortical deafness is_a: DOID:225 ! syndrome is_a: DOID:3213 ! demyelinating disease is_a: DOID:9007346 ! Cachexia [Term] id: DOID:9005251 name: Anterior Spinal Artery Stroke xref: MESH:C537776 is_a: DOID:9004922 ! Spinal Cord Ischemia [Term] id: DOID:9005252 name: Cellulite def: "Skin lumpiness or skin surface dimpling often seen on the thighs, buttocks and abdomen. It is due to protrusion of SUBCUTANEOUS FAT into the DERMIS layer of skin." [MESH:D000071697] synonym: "Cellulites" EXACT [] xref: MESH:D000071697 is_a: DOID:9007472 ! Skin Manifestations [Term] id: DOID:9005253 name: Hypernatremia def: "Excessive amount of sodium in the blood. (Dorland, 27th ed)" [MESH:D006955] synonym: "Hypernatremias" EXACT [] xref: MESH:D006955 is_a: DOID:9004004 ! Water-Electrolyte Imbalance [Term] id: DOID:9005254 name: Systemic Candidiasis synonym: "Systemic candida infections" EXACT [] xref: MESH:C536777 is_a: DOID:0050136 ! systemic mycosis is_a: DOID:1508 ! candidiasis [Term] id: DOID:9005255 name: Cranial Nerves, Recurrent Paresis of alt_id: MIM:218200 xref: MESH:C565672 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:9005256 name: Familial Atrial Fibrillation 18 synonym: "ATFB18" EXACT [] synonym: "MYL4-RELATED CONDITION" EXACT [] xref: MIM:617280 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9005257 name: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES def: "This disease is an autosomal recessive disorder characterized by impaired skeletal muscle development, usually resulting in hypotonia and secondary joint contractures, and dysmorphic facial features. Features are apparent from birth." [MIM:620775] synonym: "congenital neuromuscular disorder with dysmorphic facies" EXACT [] synonym: "NMDF" EXACT [] xref: MIM:620775 is_a: DOID:9001487 ! Facies is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulederkind creation_date: 2024-05-28T12:58:47Z [Term] id: DOID:9005258 name: Friedreich Ataxia with Retained Reflexes alt_id: RDO:0013542 xref: MESH:C564657 is_a: DOID:0111218 ! Friedreich ataxia 1 [Term] id: DOID:9005259 name: Congenital Hypopituitarism with Central Diabetes Insipidus alt_id: MIM:241540 xref: MESH:C565477 is_a: DOID:0081055 ! central diabetes insipidus is_a: DOID:12388 ! neurohypophyseal diabetes insipidus is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:9005260 name: Meralgia Paraesthetica, Familial alt_id: MIM:156220 xref: MESH:C563590 is_a: DOID:573 ! nerve compression syndrome [Term] id: DOID:9005261 name: Maternal Death def: "The death of the female parent." [MESH:D063130] synonym: "Maternal Deaths" EXACT [] xref: MESH:D063130 is_a: DOID:9000337 ! Parental Death is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9005262 name: Iridogoniodysgenesis and Skeletal Anomalies alt_id: MIM:609515 xref: MESH:C535534 is_a: DOID:0050786 ! iridogoniodysgenesis syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9005263 name: Parietal Foramina with Cleidocranial Dysplasia alt_id: MIM:168550 synonym: "PFMCCD" EXACT [] xref: MESH:C566825 is_a: DOID:0060285 ! parietal foramina is_a: DOID:13994 ! cleidocranial dysplasia [Term] id: DOID:9005264 name: Peripheral Motor Neuropathy with Dysautonomia alt_id: MIM:252320 synonym: "Lisker Garcia Ramos syndrome" EXACT [] synonym: "Peripheral motor neuropathy associated with autonomic dysfunction" EXACT [] xref: MESH:C536988 is_a: DOID:11465 ! autonomic nervous system disease [Term] id: DOID:9005265 name: Grubben de Cock Borghgraef Syndrome xref: MESH:C537621 is_a: DOID:225 ! syndrome is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007356 ! Eczema is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9005266 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKELETAL ANOMALIES, WITH OR WITHOUT SEIZURES def: "This disease is characterized by skeletal anomalies, global developmental delay with delayed or absent walking, moderate to severely impaired intellectual development, and poor or absent speech acquisition." [MIM:620224] synonym: "NEDFSS" EXACT [] xref: MIM:620224 xref: MONDO:0859365 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005004 ! Musculoskeletal Abnormalities is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2023-08-28T13:34:37Z [Term] id: DOID:9005267 name: Potassium Deficiency def: "A condition due to decreased dietary intake of potassium, as in starvation or failure to administer in intravenous solutions, or to gastrointestinal loss in diarrhea, chronic laxative abuse, vomiting, gastric suction, or bowel diversion. Severe potassium deficiency may produce muscular weakness and lead to paralysis and respiratory failure. Muscular malfunction may result in hypoventilation, paralytic ileus, hypotension, muscle twitches, tetany, and rhabomyolysis. Nephropathy from potassium deficit impairs the concentrating mechanism, producing POLYURIA and decreased maximal urinary concentrating ability with secondary POLYDIPSIA. (Merck Manual, 16th ed)" [MESH:D011191] synonym: "Potassium Deficiencies" EXACT [] xref: EFO:1001120 xref: MESH:D011191 is_a: DOID:5113 ! nutritional deficiency disease [Term] id: DOID:9005268 name: dysphoria def: "Dysphoria is a profound state of unease or dissatisfaction. In a psychiatric context, dysphoria may accompany depression, anxiety, or agitation. Common reactions to dysphoria include emotional distress or indifference." [EFO:0009867] xref: EFO:0009867 is_a: DOID:150 ! disease of mental health created_by: slaulede creation_date: 2023-01-03T14:27:43Z [Term] id: DOID:9005269 name: Stable Angina def: "Persistent and reproducible chest discomfort usually precipitated by a physical exertion that dissipates upon cessation of such an activity. The symptoms are manifestations of MYOCARDIAL ISCHEMIA." [MESH:D060050] synonym: "Chronic Stable Angina" EXACT [] synonym: "Chronic Stable Anginas" EXACT [] synonym: "Stable Angina Pectori" EXACT [] synonym: "Stable Angina Pectoris" EXACT [] synonym: "Stable Anginas" EXACT [] xref: MESH:D060050 is_a: DOID:9000483 ! Angina Pectoris [Term] id: DOID:9005270 name: Glucocorticoid Deficiency 3 synonym: "Familial Glucocorticoid Deficiency 3" EXACT [] synonym: "FGD3" EXACT [] synonym: "GCCD3" EXACT [] xref: MESH:C563776 xref: MIM:609197 xref: MONDO:0012214 is_a: DOID:0080620 ! familial glucocorticoid deficiency is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:9005274 name: Polyuria def: "Urination of a large volume of urine with an increase in urinary frequency, commonly seen in diabetes (DIABETES MELLITUS; DIABETES INSIPIDUS)." [MESH:D011141] synonym: "Polyurias" EXACT [] xref: MESH:D011141 is_a: DOID:9003919 ! Urination Disorders is_a: DOID:9007629 ! Urological Manifestations [Term] id: DOID:9005275 name: Swine Vesicular Disease def: "An enterovirus infection of swine clinically indistinguishable from FOOT-AND-MOUTH DISEASE, vesicular stomatitis, and VESICULAR EXANTHEMA OF SWINE. It is caused by a strain of HUMAN ENTEROVIRUS B." [MESH:D013555] synonym: "Swine Vesicular Diseases" EXACT [] xref: MESH:D013555 is_a: DOID:9006549 ! Enterovirus Infections is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9005276 name: Achromatopsia Incomplete, X-Linked xref: MESH:C538165 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:13911 ! achromatopsia [Term] id: DOID:9005279 name: Ichthyosis Tapered Fingers Midline Groove Up alt_id: MIM:258840 synonym: "oral and digital anomalies with ichthyosis" EXACT [] synonym: "unusual facies, digital abnormalities, and ichthyosis" EXACT [] xref: MESH:C536272 is_a: DOID:1697 ! ichthyosis is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9005280 name: Scimitar Anomaly, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities alt_id: MIM:608281 synonym: "Anomalous Pulmonary Venous Return, Multiple Cardiac Malformations, and Craniofacial and Central Nervous System Abnormalities" EXACT [] xref: MESH:C564262 is_a: DOID:4297 ! scimitar syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005281 name: Emergencies def: "Situations or conditions requiring immediate intervention to avoid serious adverse results." [MESH:D004630] synonym: "Emergency" EXACT [] xref: MESH:D004630 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9005282 name: Branchioma def: "A tumor derived from branchial epithelium or branchial rests. (Dorland, 27th ed)" [MESH:D001935] synonym: "Branchial Cleft Cyst" EXACT [] synonym: "Branchial Cleft Cysts" EXACT [] synonym: "Branchial Cyst" EXACT [] synonym: "Branchial Cysts" EXACT [] synonym: "Branchiomas" EXACT [] xref: EFO:1001277 xref: MESH:D001935 is_a: DOID:9007583 ! Cysts [Term] id: DOID:9005283 name: Abdominal Cystic Lymphangioma alt_id: RDO:0000737 synonym: "Abdominal retroperitoneal lymphangioma" EXACT [] synonym: "Retroperitoneal cystic lymphangioma" EXACT [] xref: MESH:C535553 is_a: DOID:3081 ! cystic lymphangioma is_a: DOID:9004476 ! Retroperitoneal Neoplasms [Term] id: DOID:9005284 name: Bacteroides Infections def: "Infections with bacteria of the genus BACTEROIDES." [MESH:D001442] synonym: "Bacteroides Infection" EXACT [] synonym: "Bacteroides infectious disease" EXACT [] xref: EFO:1000832 xref: MESH:D001442 xref: RDO:0004969 is_a: DOID:9002529 ! Bacteroidaceae Infections [Term] id: DOID:9005285 name: Osteochondromatosis alt_id: OMIA:001214 def: "A condition marked by the presence of multiple osteochondromas. (Dorland, 27th ed)" [MESH:D018216] synonym: "Osteochondromatoses" EXACT [] xref: MESH:D018216 is_a: DOID:9000685 ! Chondromatosis is_a: DOID:9005193 ! Osteochondroma [Term] id: DOID:9005286 name: Reardon Hall Slaney syndrome xref: MESH:C535294 xref: RDO:0000322 is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005288 name: Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, and Calvarial Hyperostosis synonym: "Pancreatic insufficiency-anemia-hyperostosis syndrome" EXACT [] xref: GARD:17095 xref: MESH:C567195 xref: MIM:612714 xref: MONDO:0012992 is_a: DOID:13316 ! exocrine pancreatic insufficiency is_a: DOID:1338 ! congenital dyserythropoietic anemia is_a: DOID:9006600 ! Calvarial Hyperostosis [Term] id: DOID:9005289 name: Water Intoxication def: "A condition resulting from the excessive retention of water with sodium depletion." [MESH:D014869] xref: MESH:D014869 xref: RDO:0006820 is_a: DOID:9000046 ! Poisoning is_a: DOID:9004004 ! Water-Electrolyte Imbalance [Term] id: DOID:9005290 name: Diabetes Mellitus, New-Onset after Transplantation def: "A serious and common complication following solid organ transplantation. It is similar to type 2 diabetes mellitus, in that its pathophysiology involves insulin resistance." [] synonym: "new-onset diabetes after transplantation" EXACT [] synonym: "NODAT" EXACT [] synonym: "post-transplant diabetes mellitus" EXACT [] synonym: "posttransplant diabetes mellitus" EXACT [] synonym: "PTDM" EXACT [] xref: RDO:9000020 is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9005291 name: Severe Infantile Axonal Neuropathy xref: MESH:C537593 xref: RDO:0003462 is_a: DOID:1389 ! polyneuropathy [Term] id: DOID:9005292 name: Organophosphate Poisoning def: "Poisoning due to exposure to ORGANOPHOSPHORUS COMPOUNDS, such as ORGANOPHOSPHATES; ORGANOTHIOPHOSPHATES; and ORGANOTHIOPHOSPHONATES." [MESH:D062025] synonym: "Organophosphate Poisonings" EXACT [] synonym: "Organophosphorus Poisoning" EXACT [] synonym: "Organothiophosphate Poisoning" EXACT [] synonym: "Organothiophosphate Poisonings" EXACT [] synonym: "Organothiophosphonate Poisoning" EXACT [] synonym: "Organothiophosphonate Poisonings" EXACT [] xref: EFO:0010581 xref: MESH:D062025 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9005293 name: Dentigerous Cyst def: "Most common follicular odontogenic cyst. Occurs in relation to a partially erupted or unerupted tooth with at least the crown of the tooth to which the cyst is attached protruding into the cystic cavity. May give rise to an ameloblastoma and, in rare instances, undergo malignant transformation." [MESH:D003803] synonym: "Dentigerous Cysts" EXACT [] xref: MESH:D003803 xref: RDO:0005339 is_a: DOID:9002504 ! Odontogenic Cysts [Term] id: DOID:9005294 name: Hydrothorax def: "A collection of watery fluid in the pleural cavity. (Dorland, 27th ed)" [MESH:D006876] xref: MESH:D006876 is_a: DOID:1532 ! pleural disease [Term] id: DOID:9005295 name: Viral Eye Infections def: "Infections of the eye caused by minute intracellular agents. These infections may lead to severe inflammation in various parts of the eye - conjunctiva, iris, eyelids, etc. Several viruses have been identified as the causative agents. Among these are Herpesvirus, Adenovirus, Poxvirus, and Myxovirus." [MESH:D015828] synonym: "viral eye infection" EXACT [] synonym: "Viral Ocular Infection" EXACT [] synonym: "viral ocular infections" EXACT [] xref: MESH:D015828 is_a: DOID:9008201 ! Eye Infections is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9005296 name: Flea Infestations def: "Parasitic attack by members of the order SIPHONAPTERA." [MESH:D058267] synonym: "Flea Infestation" EXACT [] xref: MESH:D058267 is_a: DOID:4110 ! parasitic ectoparasitic infectious disease [Term] id: DOID:9005297 name: Immunodeficiency 117 def: "An autosomal recessive immunologic disorder characterized by increased susceptibility to disseminated mycobacterial infection apparent in early childhood. Caused by homozygous mutation in the IRF1 gene on chromosome 5q31." [MIM:620668] synonym: "IMD117" EXACT [] synonym: "Immunodeficiency 117, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:620668 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections created_by: tutajm creation_date: 2024-01-19T10:24:39Z [Term] id: DOID:9005298 name: heart transplant rejection def: "This is a body's response in rejecting a heart transplant. The immune system sees the donor heart as a foreign object and mounts an attack of the donor heart." [EFO:0003046] xref: EFO:0003046 is_a: DOID:9004283 ! Transplant Rejection created_by: slaulede creation_date: 2023-01-12T11:20:45Z [Term] id: DOID:9005299 name: Idiopathic Basal Ganglia Calcification 6 alt_id: RDO:9001373 synonym: "IBGC6" EXACT [] synonym: "XPR1-RELATED PRIMARY FAMILIAL BRAIN CALCIFICATION" EXACT [] xref: MIM:616413 is_a: DOID:0060230 ! basal ganglia calcification is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:9005301 name: Hydatidiform Mole, Recurrent, 3 def: "Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes. Recurrent hydatidiform mole-3 (HYDM3) is caused by homozygous or compound heterozygous mutation in the MEI1 gene on chromosome 22q13. (OMIM)" [] synonym: "HYDM3" EXACT [] xref: MIM:618431 is_a: DOID:9005147 ! Hydatidiform Mole created_by: gthayman creation_date: 2019-06-11T17:21:30Z [Term] id: DOID:9005302 name: Platelet-Type Bleeding Disorder 13 synonym: "BDPLT13" EXACT [] synonym: "Bleeding Disorder due to Defective Thromboxane A2 Receptor" EXACT [] synonym: "BLEEDING DISORDER, SUSCEPTIBILITY TO, DUE TO DEFECTIVE PLATELET THROMBOXANE A2 RECEPTOR" RELATED [] synonym: "IMPAIRED THROMBOXANE A2 AGONIST-INDUCED PLATELET AGGREGATION" EXACT [] synonym: "PLATELET-TYPE BLEEDING DISORDER 13, SUSCEPTIBILITY TO" RELATED [] xref: MESH:C566055 xref: MIM:614009 xref: MONDO:0800447 is_a: DOID:2218 ! blood platelet disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9005303 name: Grouped Pigmentation of the Macula synonym: "Grouped Pigmentation of Retinal Pigment Epithelium" EXACT [] synonym: "Grouped Pigmentation of the Retina" EXACT [] xref: MESH:C565530 xref: MIM:233800 xref: MONDO:0009311 is_a: DOID:10123 ! pigmentation disease is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9005304 name: Fetal Membranes, Premature Rupture def: "Spontaneous tearing of the membranes surrounding the FETUS any time before the onset of OBSTETRIC LABOR. Preterm PROM is membrane rupture before 37 weeks of GESTATION." [MESH:D005322] synonym: "Membrane Premature Rupture (Pregnancy)" EXACT [] synonym: "Membrane Premature Ruptures (Pregnancy)" EXACT [] synonym: "Premature Rupture of Fetal Membranes" EXACT [] synonym: "Premature Rupture of Membrane (Pregnancy)" EXACT [] synonym: "PROM (Pregnancy)" EXACT [] xref: MESH:D005322 xref: RDO:0005206 is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:9005305 name: Muscular Dystrophy, Cardiac Type alt_id: MIM:309930 alt_id: RDO:0012575 xref: MESH:C563247 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9005306 name: soft tissue disease def: "This is a disease affecting tissues that connect, support, or surround other structures and organs of the body, not being hard tissue such as bone. Soft tissue includes tendons, ligaments, fascia, skin, fibrous tissues, fat, and synovial membranes (which are connective tissue), and muscles, nerves and blood vessels (which are not connective tissue)." [EFO:0009470] synonym: "non-bone connective tissue disease" NARROW [] xref: EFO:0009470 is_a: DOID:7 ! disease of anatomical entity created_by: slaulede creation_date: 2023-02-03T17:10:15Z [Term] id: DOID:9005307 name: Bone Marrow Failure Syndrome 3 def: "An autosomal recessive disorder characterized by onset of pancytopenia in early childhood." [] synonym: "BMFS3" EXACT [] synonym: "DNAJC21-RELATED CONDITION" EXACT [] xref: MIM:617052 is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes created_by: rgd creation_date: 2016-09-06T00:00:00Z [Term] id: DOID:9005308 name: Hypercholesterolemia, Autosomal Dominant, 3 alt_id: MIM:603776 synonym: "familial hypercholesterolemia 3" EXACT [] synonym: "FH3" EXACT [] synonym: "FHCL3" EXACT [] synonym: "HCHOLA3" EXACT [] synonym: "PCSK9-RELATED DISORDER" EXACT [] xref: MESH:C566337 is_a: DOID:13810 ! familial hypercholesterolemia [Term] id: DOID:9005309 name: Congenital Methemoglobinemia xref: MESH:C580280 xref: RDO:0015908 is_a: DOID:10783 ! methemoglobinemia [Term] id: DOID:9005312 name: Muscular Dystrophy, Hemizygous Lethal Type alt_id: MIM:309950 alt_id: RDO:0013170 xref: MESH:C564097 is_a: DOID:11724 ! limb-girdle muscular dystrophy [Term] id: DOID:9005313 name: Palatal Neoplasms def: "Tumors or cancer of the PALATE, including those of the hard palate, soft palate and UVULA." [MESH:D010157] synonym: "Palatal Neoplasm" EXACT [] xref: EFO:0003849 xref: MESH:D010157 is_a: DOID:9004594 ! Jaw Neoplasms is_a: DOID:9007364 ! Mouth Neoplasms [Term] id: DOID:9005315 name: Laterality Defects, Autosomal Dominant alt_id: MIM:601086 xref: MESH:C563391 xref: RDO:0012658 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:9005316 name: Radius Fractures def: "Fractures of the RADIUS." [MESH:D011885] synonym: "Radius Fracture" EXACT [] xref: EFO:0003957 xref: MESH:D011885 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9004279 ! Forearm Injuries [Term] id: DOID:9005317 name: Slavotinek Pike Mills Hurst Syndrome xref: MESH:C536672 is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:8927 ! learning disability is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9005318 name: Isolated Caroli Disease alt_id: MIM:600643 synonym: "Congenital polycystic dilatation of intrahepatic bile ducts" EXACT [] synonym: "Cystic dilatation of the intrahepatic biliary tree" EXACT [] xref: MESH:C531647 is_a: DOID:0050876 ! Caroli disease [Term] id: DOID:9005319 name: Congenital Nonspherocytic Hemolytic Anemia 3 synonym: "ADENYLATE KINASE DEFICIENCY" EXACT [] synonym: "CNSHA3" EXACT [] synonym: "Hemolytic Anemia due to Adenylate Kinase Deficiency" EXACT [] xref: MESH:C567228 xref: MIM:612631 xref: MONDO:0012967 xref: ORDO:86817 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:9005320 name: Malignant Fever synonym: "Fulminating hyperpyrexia" EXACT [] synonym: "Pharmacogenic myopathy" EXACT [] xref: MESH:C531737 is_a: DOID:8545 ! malignant hyperthermia [Term] id: DOID:9005322 name: Kuster Majewski Hammerstein Syndrome synonym: "Alopecia, macular degeneration, and growth retardation" EXACT [] synonym: "Alopecia macular degeneration growth retardation" EXACT [] xref: MESH:C538125 is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy is_a: DOID:9006257 ! Growth Disorders is_a: DOID:987 ! alopecia [Term] id: DOID:9005323 name: Out-of-Hospital Cardiac Arrest def: "Occurrence of heart arrest in an individual when there is no immediate access to medical personnel or equipment." [MESH:D058687] synonym: "Out-of-Hospital Cardiac Arrests" EXACT [] synonym: "Out of Hospital Heart Arrest" EXACT [] synonym: "Out-of-Hospital Heart Arrests" EXACT [] xref: MESH:D058687 is_a: DOID:0060319 ! cardiac arrest [Term] id: DOID:9005326 name: Calcifying Odontogenic Cyst def: "A mixed radiolucent-radiopaque lesion of the jaws with features of both a cyst and a solid neoplasm. It is characterized microscopically by an epithelial lining showing a palisaded layer of columnar basal cells, presence of ghost cell keratinization, dentinoid, and calcification. (Stedman, 25th ed)" [MESH:D018333] synonym: "Calcifying Odontogenic Cysts" EXACT [] xref: MESH:D018333 is_a: DOID:9002504 ! Odontogenic Cysts is_a: DOID:9006134 ! Odontogenic Tumors [Term] id: DOID:9005328 name: Glycogen Storage Disease XIII alt_id: MIM:612932 synonym: "Enolase 3 Deficiency" EXACT [] synonym: "Enolase-Beta Deficiency" EXACT [] synonym: "GSD13" EXACT [] synonym: "GSD XIII" EXACT [] xref: MESH:C567861 is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:9005329 name: Preaxial Polydactyly def: "Preaxial polydactyly, i.e., polydactyly on the radial side of the hand, is a heterogeneous category. Four types are: (1) thumb polydactyly, (2) polydactyly of triphalangeal thumb, (3) polydactyly of index finger, and (4) polysyndactyly. (OMIM)" [] xref: MIM:PS174400 is_a: DOID:1148 ! polydactyly created_by: mtutaj creation_date: 2019-07-03T15:01:50Z [Term] id: DOID:9005330 name: Virilism def: "Development of male secondary SEX CHARACTERISTICS in the FEMALE. It is due to the effects of androgenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs." [MESH:D014770] synonym: "Androgenization" EXACT [] synonym: "Virilization" EXACT [] xref: MESH:D014770 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9005331 name: Severe Recurrent Varicella alt_id: MIM:600670 xref: MESH:C563458 is_a: DOID:8659 ! chickenpox [Term] id: DOID:9005332 name: Spontaneous Coronary Artery Dissection alt_id: MIM:122455 synonym: "idiopathic SCAD" EXACT [] synonym: "idiopathic spontaneous coronary artery dissection" EXACT [] xref: EFO:0010820 xref: MESH:C565153 xref: NCI:C165532 xref: ORDO:458718 is_a: DOID:178 ! vascular disease is_a: DOID:9000018 ! Coronary Vessel Anomalies [Term] id: DOID:9005333 name: Adams-Oliver Syndrome 6 synonym: "AOS6" EXACT [] synonym: "DLL4-RELATED CONDITION" EXACT [] xref: MIM:616589 xref: MONDO:0014703 is_a: DOID:0060227 ! Adams-Oliver syndrome created_by: rgd creation_date: 2015-11-10T00:00:00Z [Term] id: DOID:9005334 name: Radicular Cyst def: "Slow-growing fluid-filled epithelial sac at the apex of a tooth with a nonvital pulp or defective root canal filling." [MESH:D011842] synonym: "Apical Periodontal Cyst" EXACT [] synonym: "Apical Periodontal Cysts" EXACT [] synonym: "Periapical Cyst" EXACT [] synonym: "Periapical Cysts" EXACT [] synonym: "Radicular Cysts" EXACT [] xref: MESH:D011842 xref: RDO:0006453 is_a: DOID:9000226 ! Periodontal Cyst is_a: DOID:9002699 ! Periapical Diseases [Term] id: DOID:9005335 name: Cerebral Visual Impairment and Intellectual Disability is_a: DOID:1059 ! intellectual disability is_a: DOID:9000343 ! Vision Disorders created_by: rgd creation_date: 2016-04-13T00:00:00Z [Term] id: DOID:9005336 name: Familial Focal Alopecia alt_id: MIM:104110 xref: MESH:C566301 is_a: DOID:987 ! alopecia [Term] id: DOID:9005337 name: Needlestick Injuries def: "Penetrating stab wounds caused by needles. They are of special concern to health care workers since such injuries put them at risk for developing infectious disease." [MESH:D016602] synonym: "Needle-Stick" EXACT [] synonym: "Needlestick" EXACT [] synonym: "Needle Stick Injuries" EXACT [] synonym: "Needle-Stick Injury" EXACT [] synonym: "Needlestick Injury" EXACT [] synonym: "Needle Sticks" EXACT [] synonym: "Needlesticks" EXACT [] synonym: "Sharps Injuries" EXACT [] synonym: "Sharps Injury" EXACT [] xref: MESH:D016602 xref: RDO:0006979 is_a: DOID:9001113 ! Stab Wounds [Term] id: DOID:9005338 name: Isolated Microphthalmia with Coloboma 4 alt_id: MIM:251505 synonym: "MCOPCB4" EXACT [] synonym: "Microphthalmia With Colobomatous Cyst" EXACT [] xref: MESH:C565378 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma [Term] id: DOID:9005339 name: Rhizomelic Dysplasia Patterson Lowry Type alt_id: MIM:601438 synonym: "Patterson-Lowry rhizomelic dysplasia" EXACT [] synonym: "Patterson Lowry syndrome" EXACT [] xref: MESH:C537609 is_a: DOID:0080006 ! bone development disease is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9005340 name: Progressive Tubulointerstitial Nephropathy with Cholestatic Liver Disease alt_id: MIM:602114 xref: MESH:C566573 is_a: DOID:1063 ! interstitial nephritis is_a: DOID:1852 ! intrahepatic cholestasis [Term] id: DOID:9005341 name: Thanatophoric Dysplasia Glasgow Variant alt_id: MIM:273680 alt_id: RDO:0002110 synonym: "Neonatally lethal short-limb skeletal dysplasia, glasgow type" EXACT [] xref: MESH:C536506 is_a: DOID:13481 ! thanatophoric dysplasia [Term] id: DOID:9005342 name: MacDermot Winter Syndrome alt_id: MIM:247990 synonym: "Prominent glabella microcephaly hypogenitalism" EXACT [] xref: MESH:C537714 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9005343 name: Splenic Neoplasms def: "Tumors or cancer of the SPLEEN." [MESH:D013160] synonym: "spleen neoplasm" EXACT [] synonym: "spleen neoplasms" EXACT [] synonym: "splenic neoplasm" EXACT [] xref: MESH:D013160 is_a: DOID:2529 ! splenic disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9005344 name: Combined Pituitary Hormone Deficiency 1 synonym: "combined or isolated pituitary hormone deficiency 1" EXACT [] synonym: "combined pituitary hormone deficiency, dominant/recessive" EXACT [] synonym: "CPHD1" EXACT [] xref: MESH:C567803 xref: MIM:613038 xref: MONDO:0024464 is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9410 ! panhypopituitarism [Term] id: DOID:9005347 name: Spondyloocular Syndrome, Autosomal Recessive synonym: "spondylo-ocular syndrome" EXACT [] synonym: "XYLT2-RELATED CONDITION" BROAD [] xref: MESH:C565285 xref: MIM:605822 xref: MONDO:0011604 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:5327 ! retinal detachment is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005349 name: Three M Syndrome 1 synonym: "3M1" EXACT [] synonym: "3M Syndrome 1" EXACT [] synonym: "CUL7-RELATED CONDITION" EXACT [] xref: MIM:273750 is_a: DOID:0060241 ! 3-M syndrome created_by: mtutaj creation_date: 2019-03-21T00:00:00Z [Term] id: DOID:9005351 name: Persistent Cloaca def: "Developmental anomaly in which the vagina, bladder, and rectum fuse resulting in a common channel. (HP)" [] synonym: "anal and urogenital canal fusion" EXACT [] synonym: "anal fusion" EXACT [] synonym: "cloaca malformation" EXACT [] is_a: DOID:9001471 ! Anorectal Malformations created_by: rgd creation_date: 2017-03-31T00:00:00Z [Term] id: DOID:9005352 name: CILIARY DYSKINESIA, PRIMARY, 47, AND LISSENCEPHALY def: "An autosomal recessive disorder characterized by onset of recurrent respiratory infections and respiratory dysfunction caused by defective mucociliary clearance in early childhood. Caused by homozygous mutation in the TP73 gene on chromosome 1p36." [MIM:619466] synonym: "CILD47" EXACT [] synonym: "Primary Ciliary Dyskinesia 47" EXACT [] synonym: "primary ciliary dyskinesia-47 and lissencephaly" EXACT [] xref: MIM:619466 is_a: DOID:0050453 ! lissencephaly is_a: DOID:9562 ! primary ciliary dyskinesia created_by: mtutaj creation_date: 2021-08-09T14:53:56Z [Term] id: DOID:9005353 name: Laplane Fontaine Lagardere Syndrome alt_id: MIM:272450 synonym: "Familial syndesmodysplasic dwarfism" EXACT [] synonym: "Syndesmodysplasic Dwarfism" EXACT [] xref: MESH:C537869 is_a: DOID:0060564 ! spinal disease is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:381 ! arthropathy is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9005354 name: Hypoparathyroidism, Autosomal Recessive xref: MESH:C564148 xref: RDO:0013201 is_a: DOID:11199 ! hypoparathyroidism [Term] id: DOID:9005355 name: Microdontia Hypodontia Short Stature xref: MESH:C537553 xref: RDO:0003414 is_a: DOID:13714 ! anodontia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005356 name: Tessadori-Bicknell-van Haaften neurodevelopmental syndrome 1 def: "This disease is characterized by poor overall growth with short stature, microcephaly, hypotonia, profound global developmental delay often with poor or absent speech, and characteristic dysmorphic facial features, including hypertelorism and abnormal nose." [MIM:619758] synonym: "HIST1H4C-ASSOCIATED DISORDER" EXACT [] synonym: "TEBIVANED1" EXACT [] synonym: "Tessadori-van Haaften Neurodevelopmental Syndrome 1" EXACT [] synonym: "TEVANED1" EXACT [] xref: MIM:619758 is_a: DOID:10907 ! microcephaly is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008554 ! Tessadori-van Haaften Neurodevelopmental Syndrome created_by: slaulede creation_date: 2022-03-29T14:08:25Z [Term] id: DOID:9005357 name: Orofaciodigital Syndrome XV alt_id: RDO:0016181 synonym: "OFD15" EXACT [] synonym: "OFDS XV" EXACT [] synonym: "ORAL-FACIAL-DIGITAL SYNDROME, TYPE XV" EXACT [] xref: MIM:617127 is_a: DOID:4501 ! orofaciodigital syndrome [Term] id: DOID:9005358 name: Hypergammaglobulinemia alt_id: DOID:2959 def: "An excess of GAMMA-GLOBULINS in the serum due to chronic infections or PARAPROTEINEMIAS." [] synonym: "Hypergammaglobulinemia" EXACT [] synonym: "Hypergammaglobulinemias" EXACT [] synonym: "Hyperimmunoglobulinemia" EXACT [] synonym: "Hyperimmunoglobulinemias" EXACT [] xref: MESH:D006942 is_a: DOID:620 ! blood protein disease is_a: DOID:9000071 ! Signs and Symptoms is_a: DOID:9008463 ! Immunoproliferative Disorders [Term] id: DOID:9005359 name: Hereditary Thrombophilia alt_id: RDO:0004609 synonym: "Factor VII Marburg I Variant Thrombophilia" NARROW [] xref: MESH:C540694 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:9005360 name: Duane Retraction Syndrome 3 synonym: "Duane retraction syndrome 3 with or without deafness" EXACT [] synonym: "Duane retraction syndrome type 3" EXACT [] synonym: "Duane syndrome type 3" EXACT [] synonym: "DURS3" EXACT [] synonym: "MAFB-RELATED CONDITION" BROAD [] xref: MIM:617041 is_a: DOID:12557 ! Duane retraction syndrome created_by: mtutaj creation_date: 2020-03-02T08:48:50Z [Term] id: DOID:9005361 name: Summitt Syndrome alt_id: MIM:272350 synonym: "recessive acrocephalosyndactyly with normal intelligence" EXACT [] synonym: "Summitt's acrocephalosyndactyly" EXACT [] xref: MESH:C538142 is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:225 ! syndrome [Term] id: DOID:9005362 name: Tracheobronchomegaly alt_id: MIM:275300 def: "A rare and probably congenital condition characterized by great enlargement of the lumen of the trachea and the larger bronchi." [MESH:D014137] synonym: "Congenital Tracheobronchomegalies" EXACT [] synonym: "Congenital Tracheobronchomegaly" EXACT [] synonym: "Mounier Kuhn Syndrome" EXACT [] synonym: "Tracheobronchomegalies" EXACT [] xref: MESH:D014137 is_a: DOID:1176 ! bronchial disease is_a: DOID:3225 ! tracheal disease is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:9005365 name: Renal Hypodysplasia/Aplasia 4 def: "This disease is characterized by bilateral renal agenesis, with severely reduced to absent amniotic fluid during pregnancy. Caused by homozygous mutation in the GFRA1 gene on chromosome 10q25." [MIM:619887] synonym: "RHDA4" EXACT [] xref: MIM:619887 is_a: DOID:14766 ! renal agenesis created_by: mtutaj creation_date: 2022-05-31T07:39:16Z [Term] id: DOID:9005366 name: Hyperphosphatemic Familial Tumoral Calcinosis 3 def: "A rare autosomal recessive metabolic disorder characterized by the progressive deposition of basic calcium phosphate crystals in periarticular spaces, soft tissues, and sometimes bone. The biochemical hallmark of tumoral calcinosis is hyperphosphatemia caused by increased renal absorption of phosphate." [MIM:617994] synonym: "HFTC3" EXACT [] xref: EFO:0009384 xref: MIM:617994 is_a: DOID:0111063 ! hyperphosphatemic familial tumoral calcinosis created_by: slaulede creation_date: 2018-11-09T10:12:15Z [Term] id: DOID:9005367 name: Arachnodactyly def: "An abnormal bone development that is characterized by extra long and slender hands and fingers, such that the clenched thumb extends beyond the ulnar side of the hand. Arachnodactyly can include feet and toes. Arachnodactyly has been associated with several gene mutations and syndromes." [MESH:D054119] synonym: "Arachnodactylies" EXACT [] xref: MESH:D054119 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9005368 name: Game Friedman Paradice Syndrome synonym: "Hydrocephalus with associated malformations" EXACT [] xref: MESH:C535406 xref: RDO:0000507 is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005369 name: Hepatomegaly def: "Enlargement of the liver." [MESH:D006529] synonym: "Enlarged Liver" EXACT [] xref: MESH:D006529 is_a: DOID:409 ! liver disease is_a: DOID:9000040 ! Hypertrophy [Term] id: DOID:9005370 name: Post-Dural Puncture Headache def: "A secondary headache disorder attributed to low CEREBROSPINAL FLUID pressure caused by SPINAL PUNCTURE, usually after dural or lumbar puncture." [MESH:D051299] synonym: "Postdural Puncture Headache" EXACT [] synonym: "Post-Dural Puncture Headaches" EXACT [] synonym: "Postdural Puncture Headaches" EXACT [] synonym: "Post-Lumbar Puncture Headache" EXACT [] xref: MESH:D051299 xref: RDO:0007579 is_a: DOID:9005633 ! Headache Disorders, Secondary [Term] id: DOID:9005371 name: Hydrocolpos def: "A fluid-filled VAGINA that is obstructed." [MESH:D052202] xref: MESH:D052202 is_a: DOID:121 ! vaginal disease [Term] id: DOID:9005372 name: Inflammation def: "A pathological process characterized by injury or destruction of tissues caused by a variety of cytologic and chemical reactions. It is usually manifested by typical signs of pain, heat, redness, swelling, and loss of function." [MESH:D007249] synonym: "acute inflammation" NARROW [] synonym: "chronic inflammation" NARROW [] synonym: "Inflammations" EXACT [] synonym: "inflammatory disease" EXACT [] xref: EFO:0003838 xref: EFO:0009903 xref: MESH:D007249 is_a: DOID:9003859 ! Immune & Inflammatory Diseases is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9005373 name: Autosomal Dominant Tubulointerstitial Kidney Disease 4 alt_id: MIM:613092 synonym: "ADTKD4" EXACT [] synonym: "early-onset hyperuricemia, anemia, and progressive kidney failure" EXACT [] synonym: "familial juvenile hyperuricemic nephropathy 2" EXACT [] synonym: "HNFJ2" EXACT [] synonym: "REN-RELATED CONDITION" BROAD [] synonym: "REN-related kidney disease" EXACT [] xref: MESH:C567760 is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy is_a: DOID:1074 ! kidney failure is_a: DOID:2355 ! anemia [Term] id: DOID:9005374 name: Diarrhea 13 def: "A disease characterized by neonatal onset of recurrent vomiting and chronic watery diarrhea, resulting in severe failure to thrive. Caused by homozygous mutation in the ACSL5 gene on chromosome 10q25." [MIM:620357] synonym: "DIAR13" EXACT [] xref: MIM:620357 is_a: DOID:9007847 ! Infantile Diarrhea created_by: mtutaj creation_date: 2023-05-01T09:01:14Z [Term] id: DOID:9005375 name: Peste-des-Petits-Ruminants def: "A highly fatal contagious disease of goats and sheep caused by PESTE-DES-PETITS-RUMINANTS VIRUS. The disease may be acute or subacute and is characterized by stomatitis, conjunctivitis, diarrhea, and pneumonia." [MESH:D029021] synonym: "Goat plague" EXACT [] synonym: "Ovine rinderpest" EXACT [] synonym: "peste des petits ruminants infectious disease" EXACT [] synonym: "PPR" EXACT [] synonym: "Pseudorinderpest" EXACT [] synonym: "Stomatitis-Pneumoenteritis Syndrome" EXACT [] xref: EFO:0007431 xref: MESH:D029021 is_a: DOID:9003860 ! Morbillivirus Infections is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9005376 name: Ophthalmoplegia, Familial Total, with Iris Transillumination alt_id: MIM:165098 xref: MESH:C563499 is_a: DOID:539 ! ophthalmoplegia [Term] id: DOID:9005377 name: Complement Factor H Deficiency alt_id: MIM:609814 synonym: "C3G1" EXACT [] synonym: "C3 glomerulopathy 1" EXACT [] synonym: "CFHD" EXACT [] synonym: "CFH Deficiency" EXACT [] synonym: "Factor H Deficiency" EXACT [] xref: MESH:C562875 is_a: DOID:557 ! kidney disease [Term] id: DOID:9005378 name: AREDYLD Syndrome alt_id: MIM:207780 synonym: "Acral renal ectodermal dysplasia lipoatrophic diabetes" EXACT [] synonym: "Acrorenal field defect, ectodermal dysplasia, and lipoatrophic diabetes" EXACT [] synonym: "AREDYLD" EXACT [] xref: MESH:C537427 is_a: DOID:11712 ! lipoatrophic diabetes mellitus is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9005379 name: Bilateral Kienbock's Disease xref: MESH:C538558 xref: RDO:0004500 is_a: DOID:10159 ! osteonecrosis [Term] id: DOID:9005380 name: Chromosome 22 Ring xref: MESH:C536795 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9005381 name: Kozlowski Ouvrier Syndrome synonym: "Agenesis of the corpus callosum with mental retardation and osseous lesions" EXACT [] xref: MESH:C537508 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:9005382 name: X-Linked Acute Leukemia alt_id: MIM:308960 xref: MESH:C564112 is_a: DOID:12603 ! acute leukemia [Term] id: DOID:9005383 name: Davenport Donlan Syndrome alt_id: RDO:0001384 synonym: "Dominant hearing loss, white hair, contractures, hyperkeratotic papillomata, and depressed chemotaxis" EXACT [] xref: MESH:C535988 is_a: DOID:225 ! syndrome is_a: DOID:2615 ! papilloma is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9006836 ! Contracture is_a: DOID:9008681 ! Deafness [Term] id: DOID:9005384 name: Adult Cerebral Astrocytoma alt_id: RDO:0000430 xref: MESH:C535354 is_a: DOID:3069 ! malignant astrocytoma is_a: DOID:4848 ! cerebellar astrocytoma [Term] id: DOID:9005387 name: Epidermolysis Bullosa Dystrophica with Subcorneal Cleavage xref: MESH:C567272 is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:9005388 name: Immune Reconstitution Inflammatory Syndrome def: "Exuberant inflammatory response towards previously undiagnosed or incubating opportunistic pathogens. It is frequently seen in AIDS patients following HAART." [MESH:D054019] synonym: "Immune Reconstitution Disease" EXACT [] synonym: "Immune Reconstitution Syndrome" EXACT [] synonym: "Immune Reconstitution Syndromes" EXACT [] synonym: "Immune Restoration Syndrome" EXACT [] xref: MESH:D054019 xref: RDO:0007642 is_a: DOID:225 ! syndrome is_a: DOID:2914 ! immune system disease [Term] id: DOID:9005389 name: Oculocutaneous Albinism Type I, Temperature-Sensitive synonym: "OCA1TS" EXACT [] synonym: "TYR-RELATED CONDITION" BROAD [] xref: MESH:C564645 is_a: DOID:9003119 ! Nonsyndromic Oculocutaneous Albinism [Term] id: DOID:9005390 name: Dextro-Looped Transposition of the Great Arteries 2 synonym: "DTGA2" EXACT [] is_a: DOID:0060770 ! dextro-looped transposition of the great arteries [Term] id: DOID:9005391 name: Asthma, Short Stature, and Elevated IgA alt_id: MIM:208600 xref: MESH:C565934 is_a: DOID:2841 ! asthma [Term] id: DOID:9005392 name: Familial Atrial Fibrillation 4 alt_id: MIM:611493 alt_id: RDO:0014652 synonym: "ATFB4" EXACT [] synonym: "KCNE2-RELATED DISORDER" BROAD [] xref: MESH:C566244 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9005393 name: Alzheimer's Disease, Early-Onset, with Cerebral Amyloid Angiopathy synonym: "Alzheimer Disease, Early-Onset, with Cerebral Amyloid Angiopathy" EXACT [] xref: MESH:C566299 is_a: DOID:10652 ! Alzheimer's disease [Term] id: DOID:9005394 name: Papular Urticaria synonym: "Bullous papular urticaria - type" EXACT [] xref: MESH:C537169 is_a: DOID:1555 ! urticaria is_a: DOID:2731 ! vesiculobullous skin disease [Term] id: DOID:9005395 name: Deafness-Craniofacial Syndrome alt_id: MIM:125230 xref: MESH:C565118 is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9005396 name: Intimal Hyperplasia def: "The process by which the cell population increases within the innermost layer of the arterial wall, occurring pathologically in pulmonary hypertension, atherosclerosis, after angioplasty, in transplanted organs, and in vein grafts." [] synonym: "neointimal hyperplasia" EXACT [] xref: EFO:0009652 is_a: DOID:9002221 ! Hyperplasia [Term] id: DOID:9005397 name: Diastasis Recti and Weakness of the Linea Alba alt_id: MIM:612198 xref: MESH:C567402 is_a: DOID:0060889 ! prune belly syndrome [Term] id: DOID:9005398 name: Hammer Toe Syndrome def: "A condition characterized by a series of interrelated digital symptoms and joint changes of the lesser digits and METATARSOPHALANGEAL JOINTS of the FOOT. The syndrome can include some or all of the following conditions: hammer toe, claw toe, mallet toe, overlapping fifth toe, curly toe, EXOSTOSIS; HYPEROSTOSIS; interdigital heloma, or contracted toe." [MESH:D037801] synonym: "Claw Toe" EXACT [] synonym: "Clawtoe" EXACT [] synonym: "Claw Toes" EXACT [] synonym: "Clawtoes" EXACT [] synonym: "Hammer Toe" EXACT [] synonym: "Hammer Toes" EXACT [] synonym: "Hammertoe Syndrome" EXACT [] synonym: "Mallet Toe" EXACT [] synonym: "Mallet Toes" EXACT [] xref: EFO:1001336 xref: MESH:D037801 xref: RDO:0007493 is_a: DOID:225 ! syndrome is_a: DOID:9003938 ! Foot Deformities [Term] id: DOID:9005399 name: DEVELOPMENTAL DELAY WITH VARIABLE NEUROLOGIC AND BRAIN ABNORMALITIES def: "This disease is characterized most often by motor and speech delay apparent from early childhood. Most patients have delayed walking and variably impaired intellectual development." [MIM:619694] synonym: "DENBA" EXACT [] synonym: "LMBRD2-RELATED CONDITION" EXACT [] xref: MIM:619694 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-03-11T10:54:46Z [Term] id: DOID:9005401 name: Chromosome 8 Deletion synonym: "Deletions of chromosome 8" EXACT [] xref: MESH:C537823 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9005402 name: Familial Cirrhosis with Pulmonary Hypertension synonym: "Indian Childhood Cirrhosis" EXACT [] xref: MESH:C562580 is_a: DOID:6432 ! pulmonary hypertension is_a: DOID:9007543 ! Familial Cirrhosis [Term] id: DOID:9005403 name: Retinol-Binding Protein Deficiency synonym: "Familial Hypo-RBP" EXACT [] xref: MESH:C566711 xref: RDO:0014987 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9005404 name: Fractures, Comminuted def: "A fracture in which the bone is splintered or crushed into a number of pieces." [MESH:D018460] synonym: "Comminuted Fracture" EXACT [] xref: MESH:D018460 xref: RDO:0007206 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9005405 name: Primary Ciliary Dyskinesia 49 def: "An autosomal recessive disorder characterized by the onset of recurrent respiratory infections, chronic cough, and bronchiectasis in early childhood due to defective ciliary clearance. Caused by compound heterozygous mutation in the CFAP74 gene on chromosome 1p36." [MIM:620197] synonym: "CILD49" EXACT [] synonym: "primary ciliary dyskinesia-49 without situs inversus" EXACT [] xref: MIM:620197 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: mtutaj creation_date: 2023-01-16T10:23:56Z [Term] id: DOID:9005406 name: Sensorineural Hearing Loss, Retinal Pigment Epithelium Lesions, Discolored Teeth alt_id: MIM:602340 xref: MESH:C566560 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9006052 ! Tooth Discoloration [Term] id: DOID:9005407 name: Ameloblastic Carcinoma def: "This is a malignant neoplasm arising from tooth-forming tissues with-enamel organ differentiation, but without enamel formation. It is a cytologically malignant ameloblastoma that may metastasize." [NCI:C7492] synonym: "odontoma, ameloblastic, malignant" EXACT [] xref: EFO:1000078 is_a: DOID:9001598 ! Odontoma created_by: slaulede creation_date: 2023-01-16T18:07:31Z [Term] id: DOID:9005409 name: Chromosome 10, Trisomy 10p synonym: "Duplication 10p" EXACT [] synonym: "Trisomy 10p" EXACT [] xref: MESH:C538290 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9005410 name: Chromosome 22, Trisomy q11 q13 synonym: "Duplication 22q11 q13" EXACT [] synonym: "Trisomy 22q11 q13" EXACT [] xref: MESH:C536800 xref: RDO:0002491 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9005411 name: Complement Component C1r/C1s Deficiency synonym: "C1r/C1s DEFICIENCY" EXACT [] xref: MIM:216950 is_a: DOID:626 ! complement deficiency [Term] id: DOID:9005412 name: Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder xref: MESH:C564427 is_a: DOID:1094 ! attention deficit hyperactivity disorder is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005414 name: Macular Dystrophy, Fenestrated Sheen Type alt_id: MIM:153890 xref: MESH:C563607 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:9005415 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES def: "This disease is characterized by impaired development of motor skills, cognitive function, and speech acquisition beginning in infancy or early childhood." [MIM:619512] synonym: "NEDHYBA" EXACT [] xref: MIM:619512 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:936 ! brain disease created_by: slaulede creation_date: 2021-10-21T13:14:40Z [Term] id: DOID:9005416 name: Synkinesis def: "An involuntary movement accompanying a volitional movement. It often refers to facial movements that accompany FACIAL PARALYSIS." [MESH:D046608] synonym: "Synkineses" EXACT [] xref: MESH:D046608 is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9005417 name: Charcot-Marie-Tooth Disease, Dominant Intermediate 3 xref: MESH:C535401 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type [Term] id: DOID:9005418 name: Focal Facial Dermal Dysplasia 1 synonym: "Bitemporal aplasia cutis congenita" EXACT [] synonym: "Brauer syndrome" EXACT [] synonym: "FFDD1" EXACT [] synonym: "FFDD, type 1" EXACT [] synonym: "Focal facial dermal dysplasia 1, Brauer type" EXACT [] synonym: "Hereditary symmetrical aplastic nevi of temples" EXACT [] xref: MIM:136500 is_a: DOID:9000745 ! Focal Facial Dermal Dysplasia [Term] id: DOID:9005419 name: Moyamoya Disease 7 def: "A cerebrovascular disease that leads to strokes and neurologic deficits. Caused by heterozygous mutation in the ANO1 gene on chromosome 11q13." [MIM:620687] synonym: "MYMY7" EXACT [] xref: MIM:620687 is_a: DOID:13099 ! Moyamoya disease created_by: tutajm creation_date: 2024-01-31T09:53:11Z [Term] id: DOID:9005420 name: Peripheral Arterial Occlusive Disease 1 alt_id: MIM:606787 synonym: "PAOD1" EXACT [] xref: MESH:C564658 xref: RDO:0013543 is_a: DOID:0050830 ! peripheral artery disease is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:9005422 name: Ectrodactyly of Lower Limbs, Congenital Heart Defect, and Micrognathia alt_id: MIM:601348 xref: MESH:C563344 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9005616 ! Micrognathism is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital [Term] id: DOID:9005423 name: Aplasia Cutis Congenita with Intestinal Lymphangiectasia alt_id: MIM:207731 synonym: "ACC with intestinal lymphangiectasia" EXACT [] synonym: "Aplasia Cutis Congenita, Intestinal Lymphangiectasia" EXACT [] xref: MESH:C537788 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9005821 ! Intestinal Lymphangiectasis [Term] id: DOID:9005424 name: Neoplasms by Site def: "A collective term for precoordinated organ/neoplasm headings locating neoplasms by organ, as BRAIN NEOPLASMS; DUODENAL NEOPLASMS; LIVER NEOPLASMS; etc." [MESH:D009371] synonym: "Neoplasms by Sites" EXACT [] synonym: "Neoplasm Site" EXACT [] synonym: "Neoplasm Sites" EXACT [] xref: MESH:D009371 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:9005425 name: Microcornea Corectopia Macular Hypoplasia xref: MESH:C537551 is_a: DOID:10629 ! microphthalmia [Term] id: DOID:9005426 name: Passovoy Factor alt_id: MIM:168830 synonym: "Passovoy factor defect" EXACT [] xref: MESH:C566820 is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:9005427 name: Necrolytic Migratory Erythema def: "Recurrent cutaneous manifestation of GLUCAGONOMA characterized by necrolytic polycyclic migratory lesions with scaling borders. It is associated with elevated secretion of GLUCAGON by the tumor. Other conditions with elevated serum glucagon levels such as HEPATIC CIRRHOSIS may also result in similar skin lesions, which are referred to as pseudoglucagonoma syndrome." [MESH:D058568] synonym: "necrolytic migratory erythemas" EXACT [] synonym: "pseudoglucagonoma syndrome" EXACT [] synonym: "pseudoglucagonoma syndromes" EXACT [] xref: MESH:D058568 is_a: DOID:37 ! skin disease is_a: DOID:9007472 ! Skin Manifestations [Term] id: DOID:9005428 name: Polyosteolysis-Hyperostosis Syndrome alt_id: MIM:610830 xref: MESH:C563658 is_a: DOID:205 ! hyperostosis is_a: DOID:225 ! syndrome is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:9005429 name: Ramos Arroyo Clark Syndrome alt_id: MIM:122430 synonym: "Corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation" EXACT [] synonym: "Ramos Arroyo Syndrome" EXACT [] xref: MESH:C535286 is_a: DOID:10124 ! corneal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:13832 ! patent ductus arteriosus is_a: DOID:225 ! syndrome is_a: DOID:5679 ! retinal disease is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9005430 name: Proximal Myopathy with Focal Depletion of Mitochondria alt_id: MIM:600706 xref: MESH:C563453 is_a: DOID:0080000 ! muscular disease is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9005431 name: Nasal Septal Perforation def: "An opening or hole in the NASAL SEPTUM that is caused by TRAUMA, injury, drug use, or pathological process." [MESH:D061270] synonym: "Nasal Septal Perforations" EXACT [] synonym: "Nasal Septum Perforation" EXACT [] synonym: "Nasal Septum Perforations" EXACT [] xref: EFO:1001813 xref: MESH:D061270 xref: RDO:0010066 is_a: DOID:2825 ! nose disease is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9005432 name: Oncogenic Osteomalacia synonym: "Tumor-induced osteomalacia" EXACT [] xref: MESH:C537751 is_a: DOID:9003944 ! Connective Tissue Neoplasms [Term] id: DOID:9005433 name: NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY def: "An autosomal recessive neurologic disorder characterized by global developmental delay apparent from early infancy, poor overall growth, impaired intellectual development with delayed or absent speech, axial hypotonia, and peripheral spasticity. Brain imaging shows cerebral atrophy, poor or absent myelination with loss of white matter volume." [MIM:618890] synonym: "NEDBASS" EXACT [] xref: MIM:618890 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006534 ! Nervous System Malformations created_by: slaulede creation_date: 2020-08-10T11:56:55Z [Term] id: DOID:9005434 name: Chromosome 2, Monosomy 2p22 synonym: "Deletion 2p22" EXACT [] synonym: "Monosomy 2p22" EXACT [] xref: MESH:C538313 xref: RDO:0004275 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9005435 name: Alpha-2-Macroglobulin Deficiency alt_id: MIM:614036 synonym: "A2MD" EXACT [] xref: MESH:C566304 is_a: DOID:850 ! lung disease [Term] id: DOID:9005437 name: Cutaneous Tuberculosis def: "Tuberculosis of the skin. It includes scrofuloderma and tuberculid, but not LUPUS VULGARIS." [MESH:D014382] synonym: "cutaneous tuberculoses" EXACT [] synonym: "Scrofuloderma" EXACT [] synonym: "Scrofulodermas" EXACT [] synonym: "Skin Tuberculoses" EXACT [] synonym: "Skin Tuberculosis" EXACT [] synonym: "Tuberculid" EXACT [] synonym: "tuberculids" EXACT [] xref: EFO:1001443 xref: MESH:D014382 xref: MONDO:0021948 is_a: DOID:0050598 ! extrapulmonary tuberculosis is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:9005438 name: Leukemia L5178 def: "An experimental lymphocytic leukemia of mice." [MESH:D007940] synonym: "Lymphoma L5178" EXACT [] xref: MESH:D007940 is_a: DOID:9004441 ! Experimental Leukemia [Term] id: DOID:9005439 name: Congenital Deafness with Inner Ear Agenesis, Microtia, and Microdontia alt_id: MIM:610706 synonym: "Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia" EXACT [] synonym: "Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM)" EXACT [] synonym: "deafness with Lamm" EXACT [] synonym: "Lamm syndrome" EXACT [] xref: MESH:C565195 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9001502 ! Congenital Microtia is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9005440 name: Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures synonym: "ICEGTC" EXACT [] xref: MESH:C564607 is_a: DOID:7725 ! epilepsy with generalized tonic-clonic seizures [Term] id: DOID:9005441 name: Omphalocele, Diaphragmatic Hernia, and Radial Ray Defects alt_id: MIM:609545 synonym: "Gershoni-Baruch Syndrome" EXACT [] xref: MESH:C563701 is_a: DOID:0060321 ! umbilical hernia is_a: DOID:3827 ! congenital diaphragmatic hernia is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9005442 name: Basel-Vanagaite-Smirin-Yosef syndrome alt_id: RDO:9001374 def: "An autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. (OMIM)" [] synonym: "BVSYS" EXACT [] xref: MIM:616449 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9005443 name: Galloway-Mowat Syndrome 8 def: "Galloway-Mowat syndrome-8 (GAMOS8) is an autosomal recessive disorder characterized by impaired psychomotor development, poor overall growth with microcephaly, and early-onset progressive nephrotic syndrome associated with focal segmental glomerulosclerosis on renal biopsy. Some patients may have seizures, and some may die in childhood. GAMOS8 is caused by homozygous mutation in the NUP133 gene on chromosome 1q42. Biallelic mutation in the NUP133 gene can also cause nephrotic syndrome type 18 (NPHS18)." [MIM:618349] synonym: "GAMOS8" EXACT [] xref: MIM:618349 is_a: DOID:0080694 ! Galloway-Mowat syndrome created_by: gthayman creation_date: 2019-03-12T00:00:00Z [Term] id: DOID:9005444 name: Torsades de Pointes alt_id: MIM:613600 def: "A malignant form of polymorphic ventricular tachycardia that is characterized by HEART RATE between 200 and 250 beats per minute, and QRS complexes with changing amplitude and twisting of the points. The term also describes the syndrome of tachycardia with prolonged ventricular repolarization, long QT intervals exceeding 500 milliseconds or BRADYCARDIA. Torsades de pointes may be self-limited or may progress to VENTRICULAR FIBRILLATION." [MESH:D016171] synonym: "Torsade de Pointes" EXACT [] xref: EFO:0005307 xref: MESH:D016171 is_a: DOID:9005141 ! Ventricular Tachycardia [Term] id: DOID:9005445 name: Alopecia Areata 2 alt_id: MIM:610753 synonym: "AA2" EXACT [] xref: MESH:C565186 is_a: DOID:986 ! alopecia areata [Term] id: DOID:9005446 name: Mandibular Neoplasms def: "Tumors or cancer of the MANDIBLE." [] synonym: "mandibular neoplasm" EXACT [] synonym: "neoplasm of mandible" EXACT [] xref: MESH:D008339 is_a: DOID:9004594 ! Jaw Neoplasms is_a: DOID:9006309 ! Mandibular Diseases [Term] id: DOID:9005447 name: Hyperfunctioning Thyroid Adenoma alt_id: RDO:0011984 synonym: "Thyroid Adenoma, Hyperfunctioning, Somatic" EXACT [] synonym: "Thyroid Carcinoma With Thyrotoxicosis" EXACT [] xref: MESH:C566386 is_a: DOID:13197 ! nodular goiter is_a: DOID:7997 ! thyrotoxicosis [Term] id: DOID:9005448 name: Autosomal Recessive Dyskeratosis Congenita 8 def: "A disease characterized by progressive bone marrow failure affecting all lineages apparent from infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the DCLRE1B gene on chromosome 1p13." [MIM:620133] synonym: "DKCB8" EXACT [] xref: MIM:620133 xref: MONDO:0859319 is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita created_by: mtutaj creation_date: 2022-11-29T07:56:14Z [Term] id: DOID:9005449 name: Ehlers-Danlos Syndrome Type 7 synonym: "EHLERS-DANLOS SYNDROME, PROCOLLAGEN PROTEINASE DEFICIENT" EXACT [] synonym: "Ehlers-Danlos Syndrome Type VII" EXACT [] xref: NCI:C125701 xref: RDO:9004306 is_a: DOID:13359 ! Ehlers-Danlos syndrome created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:9005450 name: Nocturnal Paroxysmal Dystonia def: "A parasomnia characterized by paroxysmal episodes of choreoathetotic, ballistic, dystonic movements, and semipurposeful activity. The episodes occur during non-rapid eye movement sleep and typically recur several times per night. (Neurology 1992 Jul;42(7 Suppl 6):61-67; Adams et al., Principles of Neurology, 6th ed, p391)" [MESH:D020183] synonym: "Hypnogenic Paroxysmal Dystonia" EXACT [] synonym: "Hypnogenic Paroxysmal Dystonias" EXACT [] synonym: "Nocturnal Paroxysmal Dystonias" EXACT [] synonym: "Sleep Related Dystonia" EXACT [] synonym: "Sleep-Related Dystonias" EXACT [] xref: EFO:1001381 xref: MESH:D020183 xref: RDO:0007329 is_a: DOID:9004040 ! Parasomnias [Term] id: DOID:9005451 name: Deafness, Autosomal Dominant, due to Mutation In Myo1a xref: MESH:C567266 is_a: DOID:9008681 ! Deafness [Term] id: DOID:9005452 name: Ureteral Calculi def: "Stones in the URETER that are formed in the KIDNEY. They are rarely more than 5 mm in diameter for larger renal stones cannot enter ureters. They are often lodged at the ureteral narrowing and can cause excruciating renal colic." [MESH:D014514] synonym: "Ureteral Calculus" EXACT [] xref: MESH:D014514 is_a: DOID:14146 ! ureterolithiasis is_a: DOID:9003311 ! Urinary Calculi [Term] id: DOID:9005453 name: Obesity and Hypopigmentation def: "A disease characterized by early-onset severe obesity and hypopigmentation of the skin. Caused by a heterozygous chromosomal rearrangement resulting in ubiquitous expression of the ASIP gene on chromosome 20q11." [MIM:620195] synonym: "OBHP" EXACT [] xref: MIM:620195 is_a: DOID:9005660 ! Hypopigmentation is_a: DOID:9970 ! obesity created_by: mtutaj creation_date: 2023-01-16T10:12:35Z [Term] id: DOID:9005454 name: Biemond Syndrome II alt_id: MIM:210350 synonym: "Biemond Syndrome Type 2" EXACT [] xref: MESH:C565902 is_a: DOID:1059 ! intellectual disability is_a: DOID:1148 ! polydactyly is_a: DOID:12270 ! coloboma is_a: DOID:1924 ! hypogonadism is_a: DOID:9970 ! obesity [Term] id: DOID:9005455 name: Salivary Duct Calculi alt_id: MIM:181010 def: "Presence of small calculi in the terminal salivary ducts (salivary sand), or stones (larger calculi) found in the larger ducts." [MESH:D012465] synonym: "Parotid Duct Calculi" EXACT [] synonym: "Salivary Duct Calculus" EXACT [] synonym: "Salivary Duct Stone" EXACT [] synonym: "Salivary Duct Stones" EXACT [] synonym: "Sialolithiases, Ductal" EXACT [] synonym: "Sialolithiasis, Ductal" EXACT [] synonym: "Submandibular Duct Calculi" EXACT [] xref: MESH:D012465 is_a: DOID:9001730 ! Salivary Calculi [Term] id: DOID:9005456 name: spindle cell neoplasm def: "This is a benign or malignant neoplasm characterized by the presence of neoplastic spindle cells." [NCI:C27263] synonym: "spindle cell tumor" EXACT [] xref: EFO:0000705 xref: NCI:C21613 is_a: DOID:9002052 ! Neoplasms by Histologic Type created_by: slaulede creation_date: 2022-10-17T12:30:54Z [Term] id: DOID:9005457 name: Specific Language Impairment 2 synonym: "SLI2" EXACT [] xref: MIM:606712 is_a: DOID:0060244 ! specific language impairment [Term] id: DOID:9005458 name: Eccrine Syringofibroadenomatosis with Eyelid Abnormalities xref: MESH:C566347 xref: RDO:0014726 is_a: DOID:530 ! eyelid disease is_a: DOID:9006947 ! Fibroadenoma [Term] id: DOID:9005459 name: Dahlberg Borer Newcomer Syndrome alt_id: MIM:247410 synonym: "hypoparathyroidism-lymphedema syndrome" EXACT [] xref: MESH:C535769 is_a: DOID:11199 ! hypoparathyroidism is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema [Term] id: DOID:9005460 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND AUTISTIC FEATURES WITH OR WITHOUT HYPERKINETIC MOVEMENTS def: "A disease that is characterized by axial hypotonia apparent from birth, global developmental delay with impaired intellectual development and poor or absent language acquisition, and behavioral abnormalities, including autistic features, poor social interaction, and hang-wringing. Most patients have childhood-onset seizures that are usually responsive to medication." [MIM:618760] synonym: "NEDHAHM" EXACT [] xref: MIM:618760 is_a: DOID:12849 ! autistic disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2020-03-17T10:25:41Z [Term] id: DOID:9005461 name: Ureaplasma Infections def: "Infections with bacteria of the genus UREAPLASMA." [MESH:D016869] synonym: "Ureaplasma Infection" EXACT [] xref: EFO:1001225 xref: MESH:D016869 is_a: DOID:9008587 ! Mycoplasmatales Infections [Term] id: DOID:9005462 name: Familial Basilar Migraine alt_id: RDO:0014868 xref: MESH:C566540 is_a: DOID:6364 ! migraine [Term] id: DOID:9005463 name: Occupational Diseases def: "Diseases caused by factors involved in one's employment." [MESH:D009784] subset: RGD_JBrowse_slim synonym: "Occupational Disease" EXACT [] synonym: "Occupational Illnesse" EXACT [] synonym: "Occupational Illnesses" EXACT [] xref: MESH:D009784 is_a: DOID:4 ! disease [Term] id: DOID:9005464 name: Developmental Delay, Language Impairment, and Ocular Abnormalities def: "A disease characterized by delayed acquisition of skills particularly affecting speech and language development, although many patients show mild motor delay. Caused by heterozygous mutation in the ARPC4 gene on chromosome 3p25." [MIM:620141] synonym: "DEVLO" EXACT [] xref: MIM:620141 is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008296 ! Eye Abnormalities created_by: mtutaj creation_date: 2022-12-05T08:33:31Z [Term] id: DOID:9005465 name: Renal Ischemia def: "A hypoperfusion of the blood through the kidney caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation." [] synonym: "kidney ischemia" EXACT [] is_a: DOID:326 ! ischemia is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-08-29T00:00:00Z [Term] id: DOID:9005466 name: Language Development Disorders def: "Conditions characterized by language abilities (comprehension and expression of speech and writing) that are below the expected level for a given age, generally in the absence of an intellectual impairment. These conditions may be associated with DEAFNESS; BRAIN DISEASES; MENTAL DISORDERS; or environmental factors." [MESH:D007805] synonym: "Central Auditory Processing Disorder" EXACT [] synonym: "Developmental Disorder, Speech or Language" EXACT [] synonym: "Developmental Language Disorder" EXACT [] synonym: "developmental language disorders" EXACT [] synonym: "EXPRESSIVE LANGUAGE DELAY" NARROW [] synonym: "Language Delay" EXACT [] synonym: "Language Delays" EXACT [] synonym: "Language Development Disorder" EXACT [] synonym: "LANGUAGE RETARDATION" NARROW [] synonym: "Semantic Pragmatic Disorder" EXACT [] synonym: "Semantic-Pragmatic Disorders" EXACT [] synonym: "Speech Delay" EXACT [] synonym: "speech delays" EXACT [] xref: MESH:D007805 is_a: DOID:9008582 ! Developmental Disease is_a: DOID:93 ! language disorder [Term] id: DOID:9005468 name: Brittle Cornea Syndrome xref: MIM:PS229200 is_a: DOID:10124 ! corneal disease is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:9005077 ! Joint Instability is_a: DOID:9008296 ! Eye Abnormalities created_by: mtutaj creation_date: 2020-08-23T15:06:49Z [Term] id: DOID:9005469 name: Capillary Malformation-Arteriovenous Malformation synonym: "capillary malformation-arteriovenous malformation syndrome" EXACT [] synonym: "CAPILLARY MALFORMATION WITHOUT ARTERIOVENOUS MALFORMATION" NARROW [] synonym: "CM-AVM" EXACT [] synonym: "CMAVM" EXACT [] xref: GARD:11904 xref: MESH:C564254 xref: MIM:PS608354 xref: MONDO:0012016 xref: ORDO:137667 is_a: DOID:11294 ! arteriovenous malformation is_a: DOID:9001616 ! Port-Wine Stain [Term] id: DOID:9005470 name: Chromosome 14q, Partial Deletions synonym: "Deletion 14q11" EXACT [] synonym: "Deletion 14q31" EXACT [] synonym: "Monosomy 14q11" EXACT [] synonym: "Monosomy 14q31" EXACT [] xref: MESH:C538031 xref: RDO:0003965 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9005471 name: Thiemann Disease alt_id: MIM:165700 synonym: "Familial Osteoarthropathy of Fingers" EXACT [] synonym: "Thiemann's disease" EXACT [] synonym: "Thiemann epiphyseal disease" EXACT [] xref: MESH:C537144 is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:9005472 name: hypopharyngeal squamous cell carcinoma synonym: "epidermoid carcinoma of hypopharynx" EXACT [] synonym: "hypopharyngeal epidermoid carcinoma" EXACT [] synonym: "hypopharyngeal throat squamous cell cancer" EXACT [] synonym: "hypopharynx squamous cell carcinoma" EXACT [] xref: EFO:1001960 xref: NCI:C4043 is_a: DOID:0050921 ! pharynx squamous cell carcinoma created_by: slaulede creation_date: 2022-12-29T10:44:54Z [Term] id: DOID:9005473 name: Bacterial Eye Infections alt_id: RDO:0005262 def: "Infections in the inner or external eye caused by microorganisms belonging to several families of bacteria. Some of the more common genera found are Haemophilus, Neisseria, Staphylococcus, Streptococcus, and Chlamydia." [MESH:D015818] synonym: "Bacterial Eye Infection" EXACT [] synonym: "Bacterial Ocular Infection" EXACT [] synonym: "Bacterial Ocular Infections" EXACT [] xref: MESH:D015818 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9008201 ! Eye Infections [Term] id: DOID:9005474 name: Experimental Sarcoma def: "Experimentally induced neoplasms of CONNECTIVE TISSUE in animals to provide a model for studying human SARCOMA." [MESH:D012513] synonym: "EHS Tumor" EXACT [] synonym: "Engelbreth-Holm-Swarm Sarcoma" EXACT [] synonym: "Experimental Sarcomas" EXACT [] synonym: "Jensen Sarcoma" EXACT [] xref: MESH:D012513 is_a: DOID:1115 ! sarcoma is_a: DOID:9002170 ! Experimental Neoplasms [Term] id: DOID:9005476 name: Hamanishi Ueba Tsuji Syndrome synonym: "Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy" EXACT [] xref: MESH:C535624 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:225 ! syndrome [Term] id: DOID:9005477 name: Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Migraine Headache Syndrome def: "An autosomal dominant disorder in which affected individuals present in childhood with reduced vision associated with papilledema and low-grade ocular inflammation. Patients also show anhidrosis, as well as splenomegaly and mild pancytopenia." [] synonym: "ALPK1-RELATED CONDITION" EXACT [] synonym: "ROSAH" EXACT [] synonym: "ROSAH SYNDROME" EXACT [] synonym: "splenomegaly, cytopenia, and vision loss" EXACT [] xref: MIM:614979 is_a: DOID:11156 ! anhidrosis is_a: DOID:1891 ! optic nerve disease is_a: DOID:225 ! syndrome is_a: DOID:6364 ! migraine is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002720 ! Splenomegaly created_by: mtutaj creation_date: 2020-10-29T09:40:20Z [Term] id: DOID:9005478 name: Fried Goldberg Mundel Syndrome xref: MESH:C535640 xref: RDO:0000875 is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005479 name: Pallidopontonigral Degeneration xref: MESH:C563003 xref: RDO:0012468 is_a: DOID:9255 ! frontotemporal dementia [Term] id: DOID:9005482 name: Microcephaly and Chorioretinopathy synonym: "MICROCEPHALY AND CHORIORETINOPATHY WITH OR WITHOUT INTELLECTUAL DISABILITY" EXACT [] xref: MIM:PS251270 is_a: DOID:10907 ! microcephaly is_a: DOID:1417 ! choroid disease is_a: DOID:225 ! syndrome is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: mtutaj creation_date: 2019-03-28T07:56:35Z [Term] id: DOID:9005484 name: Van Der Woude Syndrome 1, Modifier of synonym: "VWSM" EXACT [] xref: MIM:604547 xref: RDO:0008945 is_a: DOID:0060239 ! Van der Woude syndrome [Term] id: DOID:9005485 name: Generalized Epilepsy with Febrile Seizures Plus, Type 3 alt_id: RDO:0014353 synonym: "GABRG2-RELATED DISORDER" BROAD [] synonym: "GEFS+, TYPE 3" EXACT [] synonym: "GEFSP3" EXACT [] xref: MESH:C565811 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus is_a: DOID:0111298 ! familial febrile seizures 8 [Term] id: DOID:9005486 name: Chromosome 7, Trisomy Mosaic synonym: "Trisomy 7 mosaicism" EXACT [] synonym: "Uniparental disomy of 7" EXACT [] xref: MESH:C537822 xref: RDO:0003726 is_a: DOID:9003960 ! Trisomy is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9005487 name: Candidiasis, Familial, 9 synonym: "CANDF9" EXACT [] synonym: "IL17RC-RELATED CONDITION" EXACT [] xref: MIM:616445 xref: RDO:9001382 is_a: DOID:2058 ! chronic mucocutaneous candidiasis [Term] id: DOID:9005488 name: Renal Tubular Dysgenesis with Choanal Atresia and Athelia xref: MESH:C567491 is_a: DOID:9006137 ! Renal Tubular Dysgenesis is_a: DOID:9574 ! choanal atresia [Term] id: DOID:9005489 name: Seizures, Cortical Blindness, and Microcephaly Syndrome def: "A severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. (OMIM)" [] synonym: "SCBMS" EXACT [] synonym: "seizures, cortical blindness, microcephaly syndrome" EXACT [] xref: MIM:616632 is_a: DOID:10907 ! microcephaly is_a: DOID:11831 ! cortical blindness is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome [Term] id: DOID:9005490 name: Chromosome 4, Trisomy 4q21 synonym: "Duplication 4q21" EXACT [] synonym: "Trisomy 4q21" EXACT [] xref: MESH:C537645 xref: RDO:0003521 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9005491 name: Ear Deformities, Acquired def: "Distortion or disfigurement of the ear caused by disease or injury after birth." [MESH:D004426] synonym: "Acquired Ear Deformity" EXACT [] xref: MESH:D004426 xref: RDO:0003508 is_a: DOID:2742 ! auditory system disease [Term] id: DOID:9005492 name: Marfan Lipodystrophy Syndrome alt_id: RDO:9000356 def: "A syndrome characterized by congenital lipodystrophy, premature birth with an accelerated linear growth disproportionate to weight gain, and progeroid appearance with distinct facial features, including proptosis, downslanting palpebral fissures, and retrognathia. (OMIM)" [] synonym: "MARFANOID-PROGEROID-LIPODYSTROPHY SYNDROME" EXACT [] synonym: "MARFANOID-PROGEROID SYNDROME" EXACT [] synonym: "MARFAN-PROGEROID-LIPODYSTROPHY SYNDROME" EXACT [] synonym: "MFLS" EXACT [] xref: MIM:616914 is_a: DOID:14323 ! Marfan syndrome is_a: DOID:811 ! lipodystrophy created_by: rgd creation_date: 2016-05-19T00:00:00Z [Term] id: DOID:9005493 name: Anaplastic Meningioma def: "This is a rare, fast-growing tumor that forms in one of the inner layers of the meninges (thin layers of tissue that cover and protect the brain and spinal cord). Malignant meningioma often spreads to other areas of the body." [NCI:C4051] synonym: "Anaplastic (Malignant) Meningioma" EXACT [] synonym: "Malignant Meningioma" EXACT [] xref: EFO:1000082 xref: NCI:C124250 is_a: DOID:3565 ! meningioma created_by: slaulede creation_date: 2022-12-08T14:29:09Z [Term] id: DOID:9005494 name: X-linked Epilepsy 2 with or without Impaired Intellectual Development and Dysmorphic Features def: "A neurologic disorder characterized by the onset of seizures usually in the first years of life, although later onset may also occur. Caused by hemizygous or heterozygous mutation in the GABRA3 gene on chromosome Xq28." [MIM:301091] synonym: "EPILX2" EXACT [] xref: MIM:301091 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:150 ! disease of mental health is_a: DOID:1826 ! epilepsy is_a: DOID:8927 ! learning disability created_by: mtutaj creation_date: 2022-11-28T08:17:10Z [Term] id: DOID:9005495 name: Raindrop Hypopigmentation alt_id: MIM:179500 xref: MESH:C566724 is_a: DOID:9005660 ! Hypopigmentation [Term] id: DOID:9005496 name: Diaphragmatic Hernia 1 xref: MESH:C564188 is_a: DOID:3827 ! congenital diaphragmatic hernia [Term] id: DOID:9005497 name: Lesch-Nyhan Syndrome, Neurologic Variant synonym: "HPRT Deficiency, Neurologic Variant" EXACT [] synonym: "HPRT Montreal" RELATED [] xref: MESH:C564535 is_a: DOID:1919 ! Lesch-Nyhan syndrome [Term] id: DOID:9005498 name: Near Drowning def: "Non-fatal immersion or submersion in water. The subject is resuscitable." [MESH:D015701] synonym: "Near Drownings" EXACT [] xref: MESH:D015701 is_a: DOID:9000375 ! Drowning [Term] id: DOID:9005499 name: Chromosome 16p13.3 Deletion Syndrome alt_id: MIM:610543 alt_id: RDO:0014786 synonym: "proximal chromosome 16p13.3 deletion syndrome" EXACT [] synonym: "RSTS, Severe" EXACT [] synonym: "Rubinstein-Taybi Syndrome, Severe" EXACT [] xref: MESH:C566433 is_a: DOID:1933 ! Rubinstein-Taybi syndrome [Term] id: DOID:9005501 name: Abnormal Cortical Gyration is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: rgd creation_date: 2015-11-10T00:00:00Z [Term] id: DOID:9005502 name: Lattice Degeneration of Retina Leading to Retinal Detachment alt_id: MIM:150500 xref: MESH:C563633 is_a: DOID:5327 ! retinal detachment is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:9005503 name: Disseminated Sclerosis with Narcolepsy alt_id: MIM:223300 xref: MESH:C565621 is_a: DOID:2377 ! multiple sclerosis is_a: DOID:8986 ! narcolepsy [Term] id: DOID:9005504 name: Dysprothrombinemia xref: MESH:C562724 is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:9005505 name: Idiopathic Erythema Nodosum synonym: "Erythema nodosum of unknown etiology" EXACT [] xref: MESH:C535511 is_a: DOID:0080750 ! erythema nodosum [Term] id: DOID:9005506 name: 46, XY Female synonym: "XY Female" EXACT [] xref: MESH:C536769 is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:9005507 name: Amyopathic Dermatomyositis synonym: "clinically amyopathic dermatomyositis" EXACT [] xref: EFO:0008532 xref: MESH:C538250 is_a: DOID:10223 ! dermatomyositis [Term] id: DOID:9005508 name: Cephalin Lipidosis alt_id: MIM:212800 xref: MESH:C565872 is_a: DOID:1059 ! intellectual disability is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:9005509 name: Renal Hypodysplasia/Aplasia 2 synonym: "RHDA2" EXACT [] xref: MIM:615721 xref: MONDO:0014319 is_a: DOID:14766 ! renal agenesis [Term] id: DOID:9005510 name: Hereditary Leiomyomatosis and Renal Cell Cancer alt_id: MIM:150800 synonym: "Cutaneous leiomyomata with uterine leiomyomata" EXACT [] synonym: "FH-RELATED CONDITION" BROAD [] synonym: "HLRCC" EXACT [] synonym: "Leiomyoma, hereditary multiple, of skin" EXACT [] synonym: "LRCC" EXACT [] synonym: "MCL" EXACT [] synonym: "MCUL1" EXACT [] synonym: "Multiple cutaneous and uterine leiomyomata 1" EXACT [] synonym: "MULTIPLE CUTANEOUS AND UTERINE LEIOMYOMATA 1, WITH OR WITHOUT RENAL CELL CARCINOMA" EXACT [] synonym: "Multiple cutaneous and uterine leiomyomatosis" EXACT [] synonym: "multiple cutaneous leiomyoma" EXACT [] synonym: "Reed's syndrome" EXACT [] xref: EFO:0000766 xref: MESH:C535516 xref: MONDO:0007888 xref: ORDO:523 is_a: DOID:5138 ! leiomyomatosis is_a: DOID:9004268 ! Uterine Neoplasms is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9005511 name: Chromosome 2, Monosomy 2pter p24 synonym: "Deletion 2pter p24" EXACT [] synonym: "Monosomy 2pter p24" EXACT [] xref: MESH:C538314 xref: RDO:0004276 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9005512 name: Paragangliomas 6 synonym: "PGL6" EXACT [] synonym: "pheochromocytoma/paraganglioma syndrome 6" EXACT [] synonym: "PPGL6" EXACT [] xref: MIM:618464 is_a: DOID:0050773 ! paraganglioma created_by: mtutaj creation_date: 2019-06-25T14:08:57Z [Term] id: DOID:9005513 name: Phacomatosis Pigmentokeratotica xref: MESH:C537893 xref: RDO:0003805 is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9005120 ! Pigmented Nevus [Term] id: DOID:9005514 name: Diffuse Lewy Body Disease with Gaze Palsy xref: MESH:C565077 xref: RDO:0013815 is_a: DOID:12217 ! Lewy body dementia is_a: DOID:1279 ! ocular motility disease [Term] id: DOID:9005515 name: Therapy-related Acute Myeloid Leukemia def: "A neoplastic disorder caused by cytotoxic cancer therapy (chemotherapy, immunotherapy, or radiotherapy) and arising from a multipotential hematopoietic stem cell." [] synonym: "t-AML" EXACT [] xref: NCI:C8252 xref: ORDO:86846 is_a: DOID:9119 ! acute myeloid leukemia created_by: rgd creation_date: 2016-02-10T00:00:00Z [Term] id: DOID:9005516 name: Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease 1 synonym: "IMNEPD1" EXACT [] xref: MIM:616263 is_a: DOID:9006461 ! Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease created_by: rgd creation_date: 2017-03-30T00:00:00Z [Term] id: DOID:9005517 name: Trichorhinophalangeal Syndrome synonym: "trichorhinophalangeal syndromes" EXACT [] synonym: "TRICHORHINOPHALANGEAL SYNDROME TYPE I OR III" NARROW [] xref: MIM:PS190350 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia created_by: rgd creation_date: 2017-12-12T00:00:00Z [Term] id: DOID:9005518 name: Hypospadias, Hypertelorism, Upper Lid Coloboma, and Mixed-Type Hearing Loss xref: MESH:C566373 is_a: DOID:10892 ! hypospadias is_a: DOID:12270 ! coloboma is_a: DOID:9003113 ! Hearing Loss, Mixed Conductive-Sensorineural is_a: DOID:9003133 ! Hypertelorism [Term] id: DOID:9005519 name: Hyperlipoproteinemia Type II alt_id: MIM:144010 def: "A group of familial disorders characterized by elevated circulating cholesterol contained in either LOW-DENSITY LIPOPROTEINS alone or also in VERY-LOW-DENSITY LIPOPROTEINS (pre-beta lipoproteins)." [MESH:D006938] synonym: "APOB-RELATED CONDITION" BROAD [] synonym: "APOB-RELATED DISORDER" BROAD [] synonym: "Autosomal Dominant Hypercholesterolemia" EXACT [] synonym: "autosomal dominant hypercholesterolemias" EXACT [] synonym: "Essential Hypercholesterolemia" EXACT [] synonym: "Essential Hypercholesterolemias" EXACT [] synonym: "Familial Combined Hyperlipoproteinemia" EXACT [] synonym: "Familial Combined Hyperlipoproteinemias" EXACT [] synonym: "Hyper beta Lipoproteinemia" EXACT [] synonym: "Hyperbetalipoproteinemia" EXACT [] synonym: "Hyper-beta-Lipoproteinemias" EXACT [] synonym: "Hyperbetalipoproteinemias" EXACT [] synonym: "Hypercholesterolemia, Autosomal Dominant, Type B" EXACT [] synonym: "HYPERCHOLESTEROLEMIA, FAMILIAL, 2" EXACT [] synonym: "Hyperlipoproteinemia Type 2" EXACT [] synonym: "Hyperlipoproteinemia Type IIa" EXACT [] synonym: "Hyperlipoproteinemia Type IIb" EXACT [] synonym: "Hyper Low Density Lipoproteinemia" EXACT [] synonym: "Hyper-Low Density Lipoproteinemias" EXACT [] synonym: "LDL Receptor Disorder" EXACT [] synonym: "LDL Receptor Disorders" EXACT [] synonym: "type IIa hyperlipoproteinemias" EXACT [] synonym: "type II Hyperlipoproteinemias" EXACT [] xref: MESH:D006938 xref: NCI:C123416 xref: NCI:C176014 is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:9005520 name: Genitopatellar Syndrome alt_id: MIM:606170 synonym: "Absent Patellae, Scrotal Hypoplasia, Renal Anomalies, Facial Dysmorphism, and Mental Retardation" EXACT [] synonym: "AUTOSOMAL DOMINANT KAT6B-RELATED DISORDERS" BROAD [] synonym: "GTPTS" EXACT [] synonym: "KAT6B-related spectrum disorder" BROAD [] synonym: "KAT6B-related spectrum disorders" BROAD [] xref: MESH:C565255 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005521 name: Chromosome Xq28 Duplication Syndrome alt_id: MIM:300815 synonym: "Gdi1 Duplication Syndrome" EXACT [] xref: MESH:C567580 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9004151 ! Sex Chromosome Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005522 name: Dandy-Walker Malformation with Occipital Cephalocele, Autosomal Dominant alt_id: MIM:609222 synonym: "ADDWOC" EXACT [] xref: MESH:C567185 is_a: DOID:2785 ! Dandy-Walker syndrome is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:9005523 name: Majeed Syndrome synonym: "Chronic recurrent multifocal osteomyelitis 1, with congenital dyserythropoietic anemia, with or without neutrophilic dermatosis" EXACT [] synonym: "Chronic recurrent multifocal osteomyelitis, congenital" EXACT [] synonym: "Chronic Recurrent Multifocal Osteomyelitis, Congenital Dyserythropoietic Anemia, and Neutrophilic Dermatosis" EXACT [] synonym: "Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis" EXACT [] synonym: "CRMO1" EXACT [] synonym: "Dyserythropoietic anemia, and neutrophilic dermatosis" EXACT [] synonym: "MJDS" EXACT [] xref: GARD:10088 xref: MESH:C537839 xref: MIM:609628 xref: MONDO:0012316 xref: ORDO:77297 is_a: DOID:0060645 ! chronic recurrent multifocal osteomyelitis is_a: DOID:1338 ! congenital dyserythropoietic anemia is_a: DOID:225 ! syndrome [Term] id: DOID:9005525 name: X-Linked Thrombocytopenia, Intermittent alt_id: RDO:0013146 xref: MESH:C564053 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9005526 name: Pulmonary Edema of Mountaineers alt_id: MIM:178400 synonym: "HAPE" EXACT [] synonym: "high altitude pulmonary edema" EXACT [] synonym: "High altitude pulmonary hypertension" EXACT [] xref: EFO:1002002 xref: MESH:C535833 is_a: DOID:11396 ! pulmonary edema is_a: DOID:6432 ! pulmonary hypertension is_a: DOID:9005785 ! Altitude Sickness [Term] id: DOID:9005527 name: No-Reflow Phenomenon def: "Markedly reduced or absent REPERFUSION in an infarct zone following the removal of an obstruction or constriction of an artery." [MESH:D054318] synonym: "Slow Flow Phenomenon" EXACT [] xref: MESH:D054318 xref: RDO:0007668 is_a: DOID:326 ! ischemia is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:9005528 name: Structural Heart Defects and Renal Anomalies Syndrome synonym: "SHDRA" EXACT [] synonym: "TYPE I TRUNCUS ARTERIOSUS" RELATED [] xref: MIM:617478 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities created_by: rgd creation_date: 2017-06-26T00:00:00Z [Term] id: DOID:9005529 name: Chronic Benign Proteinuria def: "An autosomal recessive condition characterized by onset of isolated proteinuria in the first decade of life. The proteinuria is nonprogressive; affected individuals do not develop renal disease or impaired kidney function, and they do not have additional associated abnormalities." [MIM:618884] synonym: "PROCHOB" EXACT [] xref: MIM:618884 is_a: DOID:576 ! proteinuria created_by: slaulede creation_date: 2020-08-13T13:04:05Z [Term] id: DOID:9005530 name: Craniosynostosis 5 synonym: "CRS5" EXACT [] synonym: "susceptibility to craniosynostosis-5" RELATED [] xref: MIM:615529 xref: RDO:9001110 is_a: DOID:2340 ! craniosynostosis created_by: rgd creation_date: 2015-07-01T00:00:00Z [Term] id: DOID:9005531 name: Congenital Disorder of Glycosylation Type IIv def: "An autosomal recessive disorder characterized by neurodevelopmental delay and variable facial dysmorphisms. Caused by homozygous or compound heterozygous mutation in the EDEM3 gene on chromosome 1q25. (OMIM)" [] synonym: "CDG2V" EXACT [] synonym: "congenital disorder of glycosylation, type 2V" EXACT [] xref: MIM:619493 is_a: DOID:0050571 ! congenital disorder of glycosylation type II created_by: mtutaj creation_date: 2021-08-26T11:35:17Z [Term] id: DOID:9005532 name: Muscle Weakness def: "A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)" [MESH:D018908] synonym: "Muscle Weaknesses" EXACT [] synonym: "Muscular Weakness" EXACT [] synonym: "Muscular Weaknesses" EXACT [] synonym: "PROGRESSIVE MUSCLE WEAKNESS" NARROW [] xref: MESH:D018908 is_a: DOID:0080000 ! muscular disease is_a: DOID:9000165 ! Neuromuscular Manifestations is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9005533 name: Retinitis Pigmentosa 97 def: "This disease is characterized by onset of night blindness and visual field defects in the first decade of life, with later onset of reduced visual acuity." [MIM:620422] synonym: "RP97" EXACT [] xref: MIM:620422 is_a: DOID:10584 ! retinitis pigmentosa created_by: slaulede creation_date: 2023-07-21T10:40:55Z [Term] id: DOID:9005534 name: Congenital Infantile Muscular Dystrophy with Cataract and Hypogonadism alt_id: MIM:254000 synonym: "Familial congenital muscular dystrophy with gonadal dysgenesis" EXACT [] xref: MESH:C537385 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:1924 ! hypogonadism is_a: DOID:83 ! cataract [Term] id: DOID:9005535 name: Spontaneous Remission def: "A spontaneous diminution or abatement of a disease over time, without formal treatment." [MESH:D012075] synonym: "Spontaneous Remissions" EXACT [] xref: MESH:D012075 is_a: DOID:9000918 ! Disease Progression [Term] id: DOID:9005536 name: Blepharoptosis, Myopia, and Ectopia Lentis alt_id: MIM:110150 synonym: "blepharoptosis, myopia, ectopia lentis" EXACT [] synonym: "Dominantly inherited blepharoptosis, high myopia, and ectopia lentis" EXACT [] xref: MESH:C536236 is_a: DOID:0060260 ! ptosis is_a: DOID:11830 ! myopia is_a: DOID:9004201 ! Ectopia Lentis [Term] id: DOID:9005538 name: Tetrasomy X synonym: "48 XXXX" EXACT [] synonym: "48 XXXX syndrome" EXACT [] xref: MESH:C536502 is_a: DOID:1059 ! intellectual disability is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005539 name: Familial Prostate Cancer synonym: "hereditary prostate cancer" EXACT [] synonym: "prostate cancer susceptibility" RELATED [] xref: MESH:C537243 is_a: DOID:10283 ! prostate cancer [Term] id: DOID:9005541 name: Mental Retardation, Autosomal Recessive 53 def: "A neurodevelopmental disorder characterized by severely delayed psychomotor development, hypotonia apparent since infancy, and early-onset seizures in most patients." [MIM:616917] synonym: "EMM-NULL PHENOTYPE" RELATED [] synonym: "glycosylphosphatidylinositol biosynthesis defect 13" EXACT [] synonym: "GPIBD13" EXACT [] synonym: "intellectual developmental disorder, autosomal recessive 53" EXACT [] synonym: "MRT53" EXACT [] synonym: "NEDHSCA" EXACT [] synonym: "neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy" EXACT [] synonym: "PIGG-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:616917 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency [Term] id: DOID:9005542 name: Ciliary Discoordination due to Random Ciliary Orientation alt_id: MIM:215518 synonym: "Rutland ciliary disorientation syndrome" EXACT [] xref: MESH:C562757 is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:9005543 name: Tel Hashomer Camptodactyly Syndrome alt_id: MIM:211960 synonym: "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases" EXACT [] xref: MESH:C536953 is_a: DOID:0080000 ! muscular disease is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:225 ! syndrome is_a: DOID:9004507 ! Hirsutism is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9005544 name: dopaminergic neuroblastoma def: "This tumor is derived from immature nerve cells and associated with increased dopamine excretion." [DOID:769, EFO:0006391] xref: EFO:0006391 is_a: DOID:769 ! neuroblastoma created_by: slaulede creation_date: 2023-01-20T13:56:22Z [Term] id: DOID:9005545 name: Reginato Schiapachasse Syndrome xref: MESH:C535519 is_a: DOID:14283 ! primary hypertrophic osteoarthropathy is_a: DOID:225 ! syndrome [Term] id: DOID:9005546 name: Wellesley Carmen French Syndrome alt_id: MIM:115645 synonym: "Cataract, Aberrant Oral Frenula, And Growth Retardation" EXACT [] synonym: "Cataracts, aberrant oral frenula, and growth retardation" EXACT [] xref: MESH:C536691 is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9005547 name: Myoclonic Epilepsy of Lafora 1 synonym: "EPM2A" EXACT [] synonym: "Lafora disease 1" EXACT [] synonym: "MELF1" EXACT [] synonym: "progressive myoclonic epilepsy 2A" EXACT [] xref: MIM:254780 is_a: DOID:3534 ! Lafora disease created_by: tutajm creation_date: 2024-01-31T09:19:57Z [Term] id: DOID:9005548 name: Unknown Primary Neoplasms def: "Metastases in which the tissue of origin is unknown." [MESH:D009382] synonym: "Occult Primary Neoplasm" EXACT [] synonym: "occult primary neoplasms" EXACT [] synonym: "Unknown Primary Neoplasm" EXACT [] synonym: "Unknown Primary Neoplasm Metastasis" EXACT [] synonym: "Unknown Primary Tumor" EXACT [] synonym: "unknown primary tumors" EXACT [] xref: MESH:D009382 is_a: DOID:9000965 ! Neoplasm Metastasis [Term] id: DOID:9005549 name: Epithelioid Leiomyoma alt_id: RDO:0007126 def: "A relatively rare smooth muscle tumor found most frequently in the wall of the gastrointestinal tract, especially in the stomach. It is similar to other smooth muscle tumors but may become very large and hemorrhage and exhibit small cystic areas. Simple excision is almost always curative. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1354)" [MESH:D018230] synonym: "Epithelioid Leiomyomas" EXACT [] synonym: "Leiomyoblastoma" EXACT [] synonym: "Leiomyoblastomas" EXACT [] xref: EFO:1001356 xref: MESH:D018230 is_a: DOID:127 ! leiomyoma [Term] id: DOID:9005551 name: Cardiocranial Syndrome alt_id: MIM:218450 synonym: "Pfeiffer cardiocranial syndrome" EXACT [] synonym: "Pfeiffer Singer Zschiesche syndrome" EXACT [] synonym: "Pfeiffer syndrome 2" EXACT [] synonym: "Pfeiffer-type cardiocranial syndrome" EXACT [] synonym: "sagittal craniostenosis with congenital heart disease, mental deficiency, and mandibular ankylosis" EXACT [] xref: MESH:C535578 is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome [Term] id: DOID:9005552 name: Kallmann Syndrome 2 with Cleft Lip or Palate xref: MESH:C563651 is_a: DOID:0090083 ! hypogonadotropic hypogonadism 2 with or without anosmia is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:9005554 name: X Chromosome, Monosomy Xq28 synonym: "Deletion Xq28" EXACT [] synonym: "Monosomy Xq28" EXACT [] xref: MESH:C536755 xref: RDO:0002435 is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9005555 name: Aortic Aneurysm, Familial Abdominal 3 alt_id: MIM:611891 alt_id: RDO:0009571 synonym: "Aaa3" EXACT [] xref: MESH:C567501 xref: RDO:0015561 is_a: DOID:7693 ! abdominal aortic aneurysm [Term] id: DOID:9005556 name: C1q Deficiency 1 def: "A C1q deficiency caused by homozygous mutation in the C1QA gene on chromosome 1p36." [] synonym: "C1QD1" EXACT [] xref: MIM:613652 is_a: DOID:9007516 ! C1q Deficiency created_by: mtutaj creation_date: 2023-04-14T08:48:27Z [Term] id: DOID:9005558 name: Gamma-A-Globulin, Defect in Assembly of alt_id: MIM:137050 synonym: "IgA, Defect in Assembly of" EXACT [] synonym: "Immunoglobulin A, Defect in Assembly of" EXACT [] xref: MESH:C564991 is_a: DOID:0060025 ! immunoglobulin alpha deficiency [Term] id: DOID:9005559 name: Cystic Dilatation of Renal Collecting Tubes xref: MESH:C531743 is_a: DOID:9002851 ! Medullary Sponge Kidney [Term] id: DOID:9005560 name: Congenital Hip Dislocation def: "Congenital dislocation of the hip generally includes subluxation of the femoral head, acetabular dysplasia, and complete dislocation of the femoral head from the true acetabulum. This condition occurs in approximately 1 in 1000 live births and is more common in females than in males." [MESH:D006618] synonym: "CDH" EXACT [] synonym: "congenital dislocation of hip" EXACT [] synonym: "congenital dysplasia of the hip" EXACT [] synonym: "congenital hip dislocations" EXACT [] synonym: "congenital hip displacement" EXACT [] synonym: "congenital hip displacements" EXACT [] synonym: "congenital hip dysplasia" EXACT [] synonym: "congenital hip dysplasia, nonsyndromic" EXACT [] synonym: "congenital hip dysplasias" EXACT [] xref: EFO:1000648 xref: MESH:D006618 is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9005561 name: Agenesis of Corpus Callosum with Facial Anomalies and Robin Sequence alt_id: MIM:217980 alt_id: RDO:0012516 synonym: "Toriello-Carey Syndrome" EXACT [] xref: MESH:C563127 is_a: DOID:1682 ! congenital heart disease is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005562 name: AIDS-Related Kaposi Sarcoma alt_id: RDO:0009974 synonym: "HIV-associated cancer" BROAD [] xref: EFO:0009553 xref: MESH:C554498 xref: NCI:C3992 is_a: DOID:8632 ! Kaposi's sarcoma is_a: DOID:9000571 ! AIDS-Related Opportunistic Infections [Term] id: DOID:9005563 name: Glomerulopathy with Giant Fibrillar Deposits alt_id: MIM:137950 alt_id: MIM:601894 synonym: "Fibronectin glomerulopathy" EXACT [] synonym: "FN1-RELATED CONDITION" BROAD [] synonym: "GFND1" EXACT [] synonym: "GFND2" EXACT [] synonym: "Glomerular nephritis, familial, with fibronectin deposits" EXACT [] synonym: "GLOMERULOPATHY WITH FIBRONECTIN DEPOSITS 1" EXACT [] synonym: "Glomerulopathy With Fibronectin Deposits 2" EXACT [] synonym: "LOBULAR GLOMERULOPATHY, FAMILIAL" EXACT [] xref: MESH:C536826 xref: MESH:C562900 xref: NCI:C187984 is_a: DOID:2920 ! membranoproliferative glomerulonephritis [Term] id: DOID:9005564 name: Hepatoblastoma Caused By Somatic Mutation synonym: "Somatic Hepatoblastoma" EXACT [] xref: MESH:C567299 is_a: DOID:684 ! hepatocellular carcinoma [Term] id: DOID:9005565 name: Preconception Injuries def: "Damages to reproductive health prior to conception (FERTILIZATION), a legal term for torts liability concerning environmental safety issues. Preconception injuries may involve either the male or the female, such as chromosomal mutations in the OVA or the SPERMATOZOA." [MESH:D047489] synonym: "Preconception Injury" EXACT [] xref: MESH:D047489 xref: RDO:0007543 is_a: DOID:9001878 ! Disorders of Environmental Origin [Term] id: DOID:9005566 name: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH, LARGE EARS, AND DYSMORPHIC FACIES def: "This disease is an autosomal recessive disorder characterized by poor growth, large ears, and dysmorphic facies as well as hypotonia and global developmental delay with impaired intellectual development." [MIM:620194] synonym: "NEDGEF" EXACT [] xref: MIM:620194 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006257 ! Growth Disorders created_by: slaulede creation_date: 2023-05-04T10:13:52Z [Term] id: DOID:9005568 name: Paradoxical Embolism def: "Blockage of an artery due to passage of a clot (THROMBUS) from a systemic vein to a systemic artery without its passing through the lung which acts as a filter to remove blood clots from entering the arterial circulation. Paradoxical embolism occurs when there is a defect that allows a clot to cross directly from the right to the left side of the heart as in the cases of ATRIAL SEPTAL DEFECTS or open FORAMEN OVALE. Once in the arterial circulation, a clot can travel to the brain, block an artery, and cause a STROKE." [MESH:D019320] synonym: "Crossed Embolism" EXACT [] synonym: "Crossed Embolisms" EXACT [] synonym: "Paradoxical Embolisms" EXACT [] xref: EFO:1001308 xref: MESH:D019320 is_a: DOID:9003121 ! Thromboembolism [Term] id: DOID:9005569 name: Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation alt_id: MIM:209770 xref: MESH:C565923 is_a: DOID:1059 ! intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005570 name: Marshall/Stickler Syndrome is_a: DOID:0080046 ! Stickler syndrome is_a: DOID:0111510 ! Marshall syndrome [Term] id: DOID:9005571 name: primary pulmonary hypertension 6 def: "This disease is characterized by markedly elevated pulmonary arterial hypertension, associated with reduced oxygen saturation and diffuse ground-glass opacities on chest x-ray. Lung biopsy shows thickening of the alveolar septae and abnormally proliferating capillaries." [MIM:620777] synonym: "PPH6" EXACT [] synonym: "Primary Pulmonary Hypertension, 6" EXACT [] synonym: "PULMONARY HYPERTENSION, PRIMARY, 6" EXACT [] xref: MIM:620777 is_a: DOID:14557 ! primary pulmonary hypertension created_by: slaulederkind creation_date: 2024-05-31T15:55:40Z [Term] id: DOID:9005572 name: Brachymorphism-Onychodysplasia-Dysphalangism Syndrome alt_id: MIM:113477 synonym: "BOD Syndrome" EXACT [] xref: MESH:C536242 is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9005573 name: Prostate Cancer, Hereditary, 3 alt_id: MIM:608656 synonym: "HPC3" EXACT [] xref: MESH:C563883 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9005575 name: Bovine Hemorrhagic Syndrome def: "Clinically severe acute disease of cattle caused by noncytopathic forms of Bovine viral diarrhea virus 2 (DIARRHEA VIRUS 2, BOVINE VIRAL). Outbreaks are characterized by high morbidity and high mortality." [MESH:D030243] xref: MESH:D030243 is_a: DOID:9004723 ! Cattle Diseases is_a: DOID:9008833 ! Pestivirus Infections [Term] id: DOID:9005576 name: Acquired Amegakaryocytic Thrombocytopenia xref: MESH:C538172 is_a: DOID:11126 ! acquired thrombocytopenia is_a: DOID:4961 ! bone marrow disease is_a: DOID:9005876 ! Thrombocytopenic Purpura [Term] id: DOID:9005578 name: Hearing Loss, Unilateral Sensorineural def: "Partial or complete hearing loss in one ear resulting from damage to the COCHLEA and the sensorineural elements which lie internally beyond the oval and round windows. These elements include the AUDITORY NERVE and its connections in the BRAINSTEM." [] synonym: "USNHL" EXACT [] xref: RDO:9000068 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9001767 ! Unilateral Hearing Loss [Term] id: DOID:9005579 name: Immunodeficiency 105 def: "An autosomal recessive disorder characterized by onset of recurrent infections in early infancy. Caused by homozygous or compound heterozygous mutation in the the PTPRC gene on chromosome 1q31." [MIM:619924] synonym: "IMD105" EXACT [] synonym: "Immunodeficiency 105, severe combined" EXACT [] xref: MIM:619924 xref: MONDO:0800104 is_a: DOID:0090014 ! severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-positive created_by: mtutaj creation_date: 2022-07-05T12:23:59Z [Term] id: DOID:9005580 name: Moyamoya Disease 1 alt_id: MIM:252350 synonym: "MYMY1" EXACT [] synonym: "spontaneous occlusion of the circle of Willis" EXACT [] xref: MESH:C536991 is_a: DOID:13099 ! Moyamoya disease [Term] id: DOID:9005581 name: Autosomal Recessive Nonsyndromic Deafness 18 synonym: "Deafness, Autosomal Recessive 18" EXACT [] synonym: "DFNB18" EXACT [] is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness [Term] id: DOID:9005582 name: Adrenal Cortex Neoplasms alt_id: RDO:0004755 def: "Tumors or cancers of the ADRENAL CORTEX." [MESH:D000306] synonym: "Adrenal Cortex Neoplasm" EXACT [] synonym: "adrenal cortical tumors" EXACT [] synonym: "Adrenal cortical tumor, somatic" EXACT [] synonym: "neoplasm of adrenal cortex" EXACT [] xref: MESH:D000306 is_a: DOID:3952 ! adrenal cortex disease is_a: DOID:9000362 ! Adrenal Gland Neoplasms [Term] id: DOID:9005583 name: Ectopic Junctional Tachycardia def: "A rare form of supraventricular tachycardia caused by automatic, not reentrant, conduction initiated from sites at the atrioventricular junction, but not the ATRIOVENTRICULAR NODE. It usually occurs during myocardial infarction, after heart surgery, or in digitalis intoxication with a HEART RATE ranging from 140 to 250 beats per minute." [MESH:D013613] synonym: "Ectopic Junctional Tachycardias" EXACT [] xref: MESH:D013613 is_a: DOID:9000006 ! Supraventricular Tachycardia [Term] id: DOID:9005584 name: Hepatic Porphyrias def: "A group of metabolic diseases due to deficiency of one of a number of LIVER enzymes in the biosynthetic pathway of HEME. They are characterized by the accumulation and increased excretion of PORPHYRINS or its precursors. Clinical features include neurological symptoms (PORPHYRIA, ACUTE INTERMITTENT), cutaneous lesions due to photosensitivity (PORPHYRIA CUTANEA TARDA), or both (HEREDITARY COPROPORPHYRIA). Hepatic porphyrias can be hereditary or acquired as a result of toxicity to the hepatic tissues." [] synonym: "Hepatic Porphyria" EXACT [] xref: MESH:D017094 is_a: DOID:13268 ! porphyria is_a: DOID:409 ! liver disease is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9005585 name: Cataract, Posterior Polar, 5 xref: MESH:C535340 is_a: DOID:83 ! cataract [Term] id: DOID:9005586 name: Synpolydactyly 1 alt_id: MIM:186000 synonym: "SDTY2" EXACT [] synonym: "SPD1" EXACT [] synonym: "SYNDACTYLY, TYPE II" EXACT [] synonym: "SYNPOLYDACTYLY TYPE 1" EXACT [] xref: MESH:C538153 xref: NCI:C75005 is_a: DOID:0060242 ! synpolydactyly [Term] id: DOID:9005587 name: Starvation def: "Lengthy and continuous deprivation of food. (Stedman, 25th ed)" [MESH:D013217] synonym: "Famine" EXACT [] synonym: "Famines" EXACT [] synonym: "Starvations" EXACT [] xref: MESH:D013217 is_a: DOID:9005695 ! Malnutrition [Term] id: DOID:9005588 name: Thyrocerebral-Retinal Syndrome alt_id: MIM:274240 synonym: "Thyrocerebroretinal syndrome" EXACT [] xref: MESH:C536908 is_a: DOID:225 ! syndrome is_a: DOID:50 ! thyroid gland disease is_a: DOID:557 ! kidney disease is_a: DOID:936 ! brain disease [Term] id: DOID:9005589 name: AIDS Arteritis, Central Nervous System def: "Inflammation of ARTERIES in the CENTRAL NERVOUS SYSTEM that occurs in patients with ACQUIRED IMMUNODEFICIENCY SYNDROME or AIDS-RELATED OPPORTUNISTIC INFECTIONS." [MESH:D020943] synonym: "AIDS Associated Cerebral Aneurysmal Arteriopathy" EXACT [] synonym: "HIV-1-Associated CNS Vasculitides" EXACT [] synonym: "HIV 1 Associated CNS Vasculitis" EXACT [] synonym: "HIV-Associated CNS Vasculitides" EXACT [] synonym: "HIV-Associated CNS Vasculitis" EXACT [] synonym: "HIV Associated Vasculitis of the Central Nervous System" EXACT [] xref: EFO:0007198 xref: MESH:D020943 is_a: DOID:525 ! central nervous system vasculitis is_a: DOID:635 ! acquired immunodeficiency syndrome is_a: DOID:9002564 ! Arteritis [Term] id: DOID:9005590 name: Lymphatic Malformation 14 def: "An autosomal dominant disorder characterized by primary lymphedema. Caused by heterozygous mutation in the ERG gene on chromosome 21q22." [MIM:620602] synonym: "LMPHM14" EXACT [] xref: MIM:620602 is_a: DOID:0050580 ! hereditary lymphedema created_by: tutajm creation_date: 2023-12-04T12:07:34Z [Term] id: DOID:9005591 name: Potato Nose alt_id: MIM:164000 synonym: "anomalous shape of nose" EXACT [] xref: MESH:C538354 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005592 name: Testicular Teratoma xref: EFO:1000573 xref: MESH:C562472 xref: NCI:C128123 xref: NCI:C3877 is_a: DOID:3307 ! teratoma is_a: DOID:9004207 ! Testicular Neoplasms [Term] id: DOID:9005593 name: Crystal Arthropathies def: "Joint disorders that are characterized by accumulation of microcrystals in and around the joint including in the SYNOVIAL FLUID. They are classified according to the chemical nature of the crystals such as CALCIUM PYROPHOSPHATE; basic CALCIUM PHOSPHATES; and monosodium urate (see URIC ACID)." [MESH:D000070657] synonym: "Crystal Arthritides" EXACT [] synonym: "Crystal Arthritis" EXACT [] synonym: "Crystal Arthropathy" EXACT [] synonym: "Crystalline Arthritides" EXACT [] synonym: "Crystalline Arthritis" EXACT [] synonym: "Crystalline Arthropathies" EXACT [] synonym: "Crystalline Arthropathy" EXACT [] xref: MESH:D000070657 is_a: DOID:381 ! arthropathy [Term] id: DOID:9005594 name: Camptodactyly Syndrome Guadalajara Type 1 alt_id: MIM:211910 synonym: "Camptodactyly Syndrome, Guadalajara, Type I" EXACT [] synonym: "facio-thoraco-skeletal syndrome" EXACT [] synonym: "faciothoracoskeletal syndrome" EXACT [] synonym: "FTSS" EXACT [] synonym: "GCS1" EXACT [] synonym: "Guadalajara camptodactyly syndrome" EXACT [] xref: GARD:1067 xref: MESH:C537970 is_a: DOID:9008935 ! Camptodactyly Syndrome Guadalajara Type [Term] id: DOID:9005596 name: Corneal Wavefront Aberration def: "Asymmetries in the topography and refractive index of the corneal surface that affect visual acuity." [MESH:D057108] synonym: "Corneal Wavefront Aberrations" EXACT [] xref: MESH:D057108 is_a: DOID:10124 ! corneal disease is_a: DOID:9835 ! refractive error [Term] id: DOID:9005597 name: Lumpy Skin Disease def: "A poxvirus infection of cattle characterized by the appearance of nodules on all parts of the skin." [MESH:D008166] synonym: "Lumpy Skin Diseases" EXACT [] xref: EFO:0007349 xref: MESH:D008166 is_a: DOID:8729 ! milker's nodule is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:9005598 name: Malignant Carcinoid Syndrome def: "A symptom complex associated with CARCINOID TUMOR and characterized by attacks of severe flushing of the skin, diarrheal watery stools, bronchoconstriction, sudden drops in blood pressure, edema, and ascites. The carcinoid tumors are usually located in the gastrointestinal tract and metastasize to the liver. Symptoms are caused by tumor secretion of serotonin, prostaglandins, and other biologically active substances. Cardiac manifestations constitute CARCINOID HEART DISEASE. (Dorland, 27th ed; Stedman, 25th ed)" [MESH:D008303] synonym: "Malignant Carcinoid Syndromes" EXACT [] xref: EFO:1000852 xref: MESH:D008303 is_a: DOID:225 ! syndrome is_a: DOID:9007787 ! Carcinoid Tumor [Term] id: DOID:9005599 name: Brachydactyly-Nystagmus-Cerebellar Ataxia alt_id: MIM:113400 alt_id: RDO:0014624 xref: MESH:C566192 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:9005600 name: Infarction def: "Formation of an infarct, which is NECROSIS in tissue due to local ISCHEMIA resulting from obstruction of BLOOD CIRCULATION, most commonly by a THROMBUS or EMBOLUS." [MESH:D007238] synonym: "Infarctions" EXACT [] xref: EFO:0009463 xref: MESH:D007238 is_a: DOID:326 ! ischemia is_a: DOID:9005749 ! Necrosis [Term] id: DOID:9005601 name: CATIFA Syndrome def: "A disease characterized by global developmental delay, impaired intellectual development, and ADHD. Patients show an elongated face with long philtrum, small ears, ocular anomalies, orofacial cleft and misaligned teeth." [MIM:618761] synonym: "CATIFA" EXACT [] synonym: "cleft lip, cataract, tooth abnormality, impaired intellectual development, facial dysmorphism, and attention-deficit hyperactivity disorder" EXACT [] xref: MIM:618761 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:1059 ! intellectual disability is_a: DOID:1094 ! attention deficit hyperactivity disorder is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2020-02-13T13:43:36Z [Term] id: DOID:9005602 name: Calculi def: "An abnormal concretion occurring mostly in the urinary and biliary tracts, usually composed of mineral salts. Also called stones." [MESH:D002137] synonym: "Biliary or Urinary Stones" EXACT [] synonym: "Calculus" EXACT [] xref: MESH:D002137 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9005603 name: Muscle Hypotonia def: "A diminution of the skeletal muscle tone marked by a diminished resistance to passive stretching." [MESH:D009123] synonym: "Decreased Muscle Tone" EXACT [] synonym: "FACIAL HYPOTONIA" NARROW [] synonym: "Flaccid Muscle Tone" EXACT [] synonym: "Floppy Muscle" EXACT [] synonym: "Floppy Muscles" EXACT [] synonym: "GENERALIZED HYPOTONIA" NARROW [] synonym: "Hypomyotonia" EXACT [] synonym: "Hypotonia" EXACT [] synonym: "Hypotonias, Unilateral" EXACT [] synonym: "Muscle Flaccidity" EXACT [] synonym: "Muscle Hypotony" EXACT [] synonym: "Muscle Tone Atonic" EXACT [] synonym: "Muscle Tone Atonics" EXACT [] synonym: "Muscle Tone Poor" EXACT [] synonym: "Muscular Flaccidities" EXACT [] synonym: "Muscular Flaccidity" EXACT [] synonym: "Muscular Hypotonia" EXACT [] synonym: "Neonatal Hypotonia" EXACT [] synonym: "Neonatal Hypotonias" EXACT [] synonym: "Unilateral Hypotonia" NARROW [] xref: MESH:D009123 is_a: DOID:9000165 ! Neuromuscular Manifestations [Term] id: DOID:9005604 name: Recurrent Dislocation of Head of Fibula alt_id: MIM:135800 xref: MESH:C565011 is_a: DOID:9003279 ! Joint Dislocations [Term] id: DOID:9005605 name: Arteriovenous Fistula def: "An abnormal direct communication between an artery and a vein without passing through the CAPILLARIES. An A-V fistula usually leads to the formation of a dilated sac-like connection, arteriovenous aneurysm. The locations and size of the shunts determine the degree of effects on the cardiovascular functions such as BLOOD PRESSURE and HEART RATE." [MESH:D001164] synonym: "Arteriovenous Aneurysm" EXACT [] synonym: "Arteriovenous Fistulas" EXACT [] xref: MESH:D001164 xref: NCI:C36192 is_a: DOID:11294 ! arteriovenous malformation is_a: DOID:9004252 ! Vascular Fistula [Term] id: DOID:9005606 name: Global Developmental Delay, Lung Cysts, Overgrowth, and Wilms Tumor synonym: "GLOW" EXACT [] synonym: "GLOW syndrome" EXACT [] synonym: "GLOW syndrome, somatic mosaic" EXACT [] xref: MIM:618272 is_a: DOID:2154 ! nephroblastoma is_a: DOID:225 ! syndrome is_a: DOID:9007583 ! Cysts is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2019-02-26T11:08:27Z [Term] id: DOID:9005607 name: Hereditary Paraganglioma-Pheochromocytoma Syndromes is_a: DOID:0050773 ! paraganglioma is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9005608 name: Stern Lubinsky Durrie Syndrome xref: MESH:C537488 is_a: DOID:10124 ! corneal disease is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9005609 name: Aksu von Stockhausen Syndrome synonym: "Hereditary branchial arch defects" EXACT [] xref: MESH:C535611 xref: RDO:0000835 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005610 name: Leukemic Infiltration def: "A pathologic change in leukemia in which leukemic cells permeate various organs at any stage of the disease. All types of leukemia show various degrees of infiltration, depending upon the type of leukemia. The degree of infiltration may vary from site to site. The liver and spleen are common sites of infiltration, the greatest appearing in myelocytic leukemia, but infiltration is seen also in the granulocytic and lymphocytic types. The kidney is also a common site and of the gastrointestinal system, the stomach and ileum are commonly involved. In lymphocytic leukemia the skin is often infiltrated. The central nervous system too is a common site." [MESH:D017254] synonym: "Leukemic Infiltrations" EXACT [] xref: MESH:D017254 is_a: DOID:9004575 ! Neoplasm Invasiveness [Term] id: DOID:9005611 name: Malformations of Cortical Development, Group I def: "Cortical malformations secondary to abnormal neuronal and glial CELL PROLIFERATION or APOPTOSIS in NEUROGENESIS. This group includes congenital MICROCEPHALIES; MICROLISSENCEPHALIES, megalencephalies, HEMIMEGALENCEPHALIES and cortical dysplasias with balloon cells." [MESH:D065703] synonym: "Abnormal Proliferation Cortical Malformations" EXACT [] synonym: "Cortical Malformations, Group I" EXACT [] synonym: "Malformations Due to Abnormal Neuronal and Glial Proliferation or Apoptosis" EXACT [] synonym: "Malformations Secondary to Abnormal Neuronal and Glial Proliferation or Apoptosis" EXACT [] xref: MESH:D065703 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:9005612 name: Endometrial Intraepithelial Neoplasia def: "This is a premalignant neoplastic process that affects the endometrial epithelium and glands. It is a neoplastic clonal expansion of endometrial glands characterized by cytologic changes of the epithelium and the presence of an increased number of endometrial glands. The glands form crowded aggregates with tubular or branching patterns which are cytologically distinct from the background architectural and cytological pattern. It is associated with molecular changes seen in endometrioid endometrial carcinoma, including microsatellite instability, PAX2 inactivation, and PTEN, KRAS, and CTNNB1 gene mutation" [EFO:1000235, NCI:C27789] synonym: "Atypical Endometrial Hyperplasia" EXACT [] synonym: "Atypical hyperplasia/Endometrial intraepithelial neoplasia" EXACT [] synonym: "Atypical Hyperplasia of Endometrium" EXACT [] synonym: "Cervical Glandular Intraepithelial Neoplasia" NARROW [] synonym: "EAH/EIN" EXACT [] synonym: "EIN" EXACT [] synonym: "EmGD" EXACT [] synonym: "Endometrial Atypical Hyperplasia" EXACT [] synonym: "Endometrial Atypical Hyperplasia/Endometrioid Intraepithelial Neoplasia" EXACT [] synonym: "Endometrial Glandular Dysplasia" EXACT [] synonym: "Endometrial Hyperplasia with Atypia" EXACT [] xref: EFO:1000165 xref: EFO:1000235 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:0080365 ! endometrial hyperplasia is_a: DOID:9007715 ! Endometrial Neoplasms created_by: slaulede creation_date: 2023-02-07T12:05:45Z [Term] id: DOID:9005613 name: Myopia 1 alt_id: MIM:310460 synonym: "MYOPIA 1, X-LINKED" EXACT [] synonym: "Myopia, X-Linked" EXACT [] synonym: "MYP1" EXACT [] xref: MESH:C564091 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11830 ! myopia [Term] id: DOID:9005614 name: Methylmalonic Aciduria and Homocystinuria synonym: "Methylmalonic acidemia with homocystinuria" EXACT [] xref: GARD:3579 xref: MESH:C537359 xref: MIM:PS277400 xref: MONDO:0016826 xref: ORDO:26 is_a: DOID:14749 ! methylmalonic acidemia is_a: DOID:9263 ! homocystinuria created_by: mtutaj creation_date: 2023-02-06T14:36:37Z [Term] id: DOID:9005615 name: Joubert Syndrome 38 def: "Characterized by hypotonia, global developmental delay, oculomotor apraxia, and breathing abnormalities, with a 'molar tooth sign' on brain MRI. Caused by compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13. (OMIM)" [] synonym: "JBTS38" EXACT [] xref: MIM:619476 is_a: DOID:0050777 ! Joubert syndrome created_by: mtutaj creation_date: 2021-08-25T09:25:57Z [Term] id: DOID:9005616 name: Micrognathism def: "Abnormally small jaw." [MESH:D008844] synonym: "Congenital Micrognathia" EXACT [] synonym: "congenital micrognathias" EXACT [] synonym: "Congenital Micrognathism" EXACT [] synonym: "Congenital Micrognathisms" EXACT [] synonym: "Mandibular Micrognathia" EXACT [] synonym: "Mandibular Micrognathias" EXACT [] synonym: "Mandibular Micrognathism" EXACT [] synonym: "Mandibular Micrognathisms" EXACT [] synonym: "Micrognathia" EXACT [] synonym: "Micrognathias" EXACT [] synonym: "micrognathisms" EXACT [] xref: MESH:D008844 is_a: DOID:9000066 ! Jaw Abnormalities [Term] id: DOID:9005617 name: Perioral Dermatitis alt_id: RDO:0007278 def: "A papular eruption of unknown etiology that progresses to residual papular erythema and scaling usually confined to the area of the mouth, and almost exclusively occurring in young women. It may also be localized or extend to involve the eyelids and adjacent glabella area of the forehead (periocular dermatitis). (Dorland, 28th ed)" [MESH:D019557] synonym: "Periocular Dermatitides" EXACT [] synonym: "Periocular Dermatitis" EXACT [] synonym: "Perioral Dermatitides" EXACT [] xref: EFO:1001305 xref: MESH:D019557 is_a: DOID:2723 ! dermatitis is_a: DOID:3134 ! facial dermatosis [Term] id: DOID:9005619 name: Acetylcarnitine Deficiency alt_id: RDO:0001413 xref: MESH:C536006 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9005620 name: Tracheal Agenesis without Tracheoesophageal Fistula synonym: "Type 2 tracheal agenesis" EXACT [] xref: MESH:C536976 xref: RDO:0002711 is_a: DOID:0060313 ! tracheomalacia [Term] id: DOID:9005621 name: Combined Oxidative Phosphorylation Deficiency 59 def: "This disease may present as a lethal infantile form of Leigh syndrome or as a milder disorder with hypertrophic cardiomyopathy, lactic acidosis, attention deficit-hyperactivity disorder (ADHD) and survival into adulthood. Caused by homozygous or compound heterozygous mutation in the MRPL39 gene on chromosome 21q21." [MIM:620646] synonym: "COXPD59" EXACT [] xref: MIM:620646 is_a: DOID:0060286 ! combined oxidative phosphorylation deficiency created_by: tutajm creation_date: 2023-12-12T17:51:32Z [Term] id: DOID:9005622 name: Congenital Ichthyosis with Trichothiodystrophy xref: MESH:C566643 is_a: DOID:0111866 ! trichothiodystrophy is_a: DOID:1697 ! ichthyosis [Term] id: DOID:9005623 name: Iida Kannari Syndrome synonym: "Craniosynostosis with joint contractures, ear deformity, cleft palate, scoliosis, and other features" EXACT [] xref: GARD:3249 xref: MESH:C536284 xref: MONDO:0043116 is_a: DOID:0060249 ! scoliosis is_a: DOID:2340 ! craniosynostosis is_a: DOID:674 ! cleft palate is_a: DOID:9006836 ! Contracture [Term] id: DOID:9005624 name: Photoparoxysmal Response 3 alt_id: MIM:609573 synonym: "photoparoxysmal response with or without myoclonic epilepsy" EXACT [] synonym: "PPR3" EXACT [] xref: MESH:C563695 is_a: DOID:0060281 ! photosensitive epilepsy is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:9005625 name: Border Disease def: "Congenital disorder of lambs caused by a virus closely related to or identical with certain strains of bovine viral diarrhea virus." [MESH:D001882] synonym: "Border Diseases" EXACT [] xref: EFO:0007177 xref: MESH:D001882 is_a: DOID:9006097 ! Sheep Diseases is_a: DOID:9008833 ! Pestivirus Infections [Term] id: DOID:9005626 name: Craniosynostosis, Anal Anomalies, and Porokeratosis alt_id: MIM:603116 synonym: "CAP syndrome" EXACT [] synonym: "CDAGS syndrome" EXACT [] xref: MESH:C536789 is_a: DOID:2340 ! craniosynostosis is_a: DOID:3805 ! porokeratosis is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:9005627 name: Metabolic Brain Diseases alt_id: RDO:0001330 def: "Acquired or inborn metabolic diseases that produce brain dysfunction or damage. These include primary (i.e., disorders intrinsic to the brain) and secondary (i.e., extracranial) metabolic conditions that adversely affect cerebral function." [MESH:D001928] synonym: "Acquired Metabolic Diseases, Brain" EXACT [] synonym: "Acquired Metabolic Encephalopathies" EXACT [] synonym: "Acquired Metabolic Encephalopathy" EXACT [] synonym: "Brain Disorders, Metabolic, Acquired" EXACT [] synonym: "Brain Metabolic Disorder" EXACT [] synonym: "Brain Metabolic Disorders" EXACT [] synonym: "Central Nervous System Metabolic Disorders" EXACT [] synonym: "CNS Metabolic Disorder" EXACT [] synonym: "CNS Metabolic Disorders" EXACT [] synonym: "CNS Metabolic Disorders, Acquired" EXACT [] synonym: "Metabolic Brain Disease" EXACT [] synonym: "Metabolic Brain Syndrome" EXACT [] synonym: "Metabolic Brain Syndrome, Acquired" EXACT [] synonym: "Metabolic Brain Syndromes" EXACT [] synonym: "Metabolic Brain Syndromes, Acquired" EXACT [] synonym: "Metabolic Disorder, Central Nervous System, Acquired" EXACT [] synonym: "Metabolic Encephalopathies" EXACT [] synonym: "Metabolic Encephalopathy" EXACT [] synonym: "Nervous System Acquired Metabolic Diseases" EXACT [] xref: MESH:D001928 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:936 ! brain disease [Term] id: DOID:9005628 name: Ataxia-Telangiectasia Variant xref: MESH:C566865 xref: RDO:0015085 is_a: DOID:12704 ! ataxia telangiectasia [Term] id: DOID:9005630 name: Rupture def: "Forcible or traumatic tear or break of an organ or other soft part of the body." [MESH:D012421] synonym: "Ruptures" EXACT [] xref: MESH:D012421 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9005631 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS alt_id: MIM:606220 def: "IDDSFAS is caused by homozygous mutation in the FBXL3 gene on chromosome 13q22. (OMIM)" [] synonym: "IDDSFAS" EXACT [] synonym: "INTELLECTUAL DISABILITY, SHORT STATURE, FACIAL ANOMALIES, AND JOINT DISLOCATIONS" EXACT [] synonym: "Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations" EXACT [] xref: MESH:C565248 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9005632 name: Cocaine-Related Disorders def: "Disorders related or resulting from use of cocaine." [MESH:D019970] synonym: "cocaine-related disorder" EXACT [] synonym: "cocaine use disorder" NARROW [] xref: EFO:0010445 xref: MESH:D019970 is_a: DOID:303 ! substance-related disorder [Term] id: DOID:9005633 name: Headache Disorders, Secondary def: "Conditions with HEADACHE symptom that can be attributed to a variety of causes including BRAIN VASCULAR DISORDERS; WOUNDS AND INJURIES; INFECTION; drug use or its withdrawal." [MESH:D051271] synonym: "Analgesic Overuse Headache" EXACT [] synonym: "Analgesic Overuse Headaches" EXACT [] synonym: "Analgesic Rebound Headache" EXACT [] synonym: "Analgesic Rebound Headaches" EXACT [] synonym: "Medication Overuse Headache" EXACT [] synonym: "Medication Overuse Headaches" EXACT [] synonym: "Secondary Headache Disorder" EXACT [] xref: MESH:D051271 xref: RDO:0006806 is_a: DOID:9007953 ! Headache Disorders [Term] id: DOID:9005634 name: Tolchin-Le Caignec Syndrome def: "A developmental disorder characterized by mildly to moderately impaired intellectual development and behavioral problems, such as autism, ADHD, labile mood, and aggressive episodes. Many patients have bony abnormalities. (OMIM)" [] synonym: "intellectual developmental disorder with behavioral abnormalities and variable bone defects" EXACT [] synonym: "TOLCAS" EXACT [] xref: MIM:618971 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2020-08-06T08:09:18Z [Term] id: DOID:9005635 name: Estren-Dameshek Variant of Fanconi Anemia alt_id: MESH:C565573 synonym: "Estren-Dameshek Variant of Fanconi Pancytopenia" EXACT [] synonym: "Fanconi Anemia, Estren-Dameshek Variant" EXACT [] xref: MESH:C565572 is_a: DOID:0111095 ! Fanconi anemia complementation group A [Term] id: DOID:9005637 name: Enzootic Bovine Leukosis def: "A lymphoid neoplastic disease in cattle caused by the bovine leukemia virus. Enzootic bovine leukosis may take the form of lymphosarcoma, malignant lymphoma, or leukemia but the presence of malignant cells in the blood is not a consistent finding." [MESH:D016583] synonym: "Bovine Leukemia" EXACT [] synonym: "bovine leukemias" EXACT [] synonym: "Bovine Leukoses" EXACT [] synonym: "Bovine Leukosis" EXACT [] synonym: "Bovine Lymphoma" EXACT [] synonym: "Bovine Lymphomas" EXACT [] synonym: "Bovine Lymphosarcoma" EXACT [] synonym: "Bovine Lymphosarcomas" EXACT [] synonym: "enzootic bovine leukoses" EXACT [] xref: EFO:1001315 xref: MESH:D016583 xref: MONDO:0025489 xref: NCI:C131469 xref: NCI:C134767 is_a: DOID:1240 ! leukemia is_a: DOID:9001509 ! Deltaretrovirus Infections is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:9005638 name: Spastic Paresis, Glaucoma, and Mental Retardation alt_id: MIM:270850 xref: MESH:C564809 is_a: DOID:1059 ! intellectual disability is_a: DOID:1686 ! glaucoma is_a: DOID:9002598 ! Spastic Paraparesis [Term] id: DOID:9005639 name: Mandibular Fractures def: "Fractures of the lower jaw." [MESH:D008337] synonym: "Mandibular Fracture" EXACT [] xref: MESH:D008337 is_a: DOID:9004559 ! Jaw Fractures [Term] id: DOID:9005640 name: Complete Atrioventricular Septal Defect synonym: "Common atrioventricular canal" EXACT [] synonym: "Complete atrioventricular canal" EXACT [] xref: MESH:C535974 xref: RDO:0001366 is_a: DOID:11502 ! mitral valve insufficiency [Term] id: DOID:9005641 name: GLOBAL DEVELOPMENTAL DELAY, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM, AND DYSMORPHIC FACIES def: "An intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. (OMIM)" [] synonym: "GDACCF" EXACT [] synonym: "ZNF148-RELATED CONDITION" EXACT [] xref: MIM:617260 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9005642 name: Odontogenic Myxoma def: "An uncommon benign odontogenic tumor arising from embryonic connective tissue associated with tooth formation. It is a slow-growing, expansile, painless, non-metastasizing, central tumor of jaws, chiefly the mandible." [] is_a: DOID:9003253 ! Myxoma is_a: DOID:9006134 ! Odontogenic Tumors [Term] id: DOID:9005643 name: Experimental Diabetes Mellitus def: "Diabetes mellitus induced experimentally by administration of various diabetogenic agents or by PANCREATECTOMY." [MESH:D003921] synonym: "Alloxan Diabetes" EXACT [] synonym: "Experimental Diabetes Mellitus" EXACT [] synonym: "Streptozocin Diabete" EXACT [] synonym: "streptozocin diabetes" EXACT [] synonym: "streptozotocin diabetes" EXACT [] xref: MESH:D003921 is_a: DOID:9006205 ! Animal Disease Models is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9005644 name: Amniotic Band Syndrome def: "A disorder present in the newborn infant in which constriction rings or bands, causing soft tissue depressions, encircle digits, extremities, or limbs and sometimes the neck, thorax, or abdomen. They may be associated with intrauterine amputations." [MESH:D000652] synonym: "Amniotic Band" EXACT [] synonym: "Amniotic Bands" EXACT [] synonym: "Annular Groove" EXACT [] synonym: "Annular Grooves" EXACT [] synonym: "Intrauterine Amputation" EXACT [] synonym: "Intrauterine Amputations" EXACT [] synonym: "Intrauterine Ring Constriction" EXACT [] synonym: "Intrauterine Ring Constrictions" EXACT [] synonym: "Streeter Syndrome" EXACT [] xref: MESH:D000652 xref: RDO:0000036 is_a: DOID:225 ! syndrome is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9005645 name: Blepharochalasis and Double Lip alt_id: MIM:109900 synonym: "Ascher Syndrome" EXACT [] xref: MESH:C562742 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005646 name: Cheyne-Stokes Respiration def: "An abnormal pattern of breathing characterized by alternating periods of apnea and deep, rapid breathing. The cycle begins with slow, shallow breaths that gradually increase in depth and rate and is then followed by a period of apnea. The period of apnea can last 5 to 30 seconds, then the cycle repeats every 45 seconds to 3 minutes." [MESH:D002639] xref: MESH:D002639 xref: RDO:0005186 is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9005647 name: Experimental Autoimmune Uveitis def: "An experimental animal model used for the study of uveitis. It is commonly induced with interphotoreceptor retinoid-binding protein (IRBP) (relapsing EAU) or retinal S-Antigen (monophasic EAU)." [] synonym: "EAAU" RELATED [] synonym: "experimental autoimmune anterior uveitis" RELATED [] is_a: DOID:13141 ! uveitis is_a: DOID:417 ! autoimmune disease is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9005648 name: Glycogen Storage Disease 0, Muscle alt_id: MIM:611556 synonym: "GSD 0b" EXACT [] synonym: "GSD0B" EXACT [] synonym: "Muscle Glycogen Synthase Deficiency" EXACT [] xref: MESH:C566917 is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:9005649 name: Pure Autonomic Failure def: "A degenerative disease of the AUTONOMIC NERVOUS SYSTEM that is characterized by idiopathic ORTHOSTATIC HYPOTENSION and a greatly reduced level of CATECHOLAMINES. No other neurological deficits are present." [MESH:D054970] synonym: "Bradbury Eggleston Syndrome" EXACT [] xref: MESH:D054970 xref: RDO:0007692 is_a: DOID:9003171 ! Primary Dysautonomias [Term] id: DOID:9005650 name: Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type def: "A severe bone dysplasia resulting in significant short stature with variable anomalies of the spine, pelvis, hips, and extremities, including short, rudimentary, or absent digits. Patients also exhibit variable facial dysmorphisms. Caused by compound heterozygous mutation in the ERI1 gene on chromosome 8p23." [MIM:620663] synonym: "ERI1-ASSOCIATED DISORDER" BROAD [] synonym: "SEMDGC" EXACT [] xref: MIM:620663 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia created_by: tutajm creation_date: 2024-01-19T10:08:06Z [Term] id: DOID:9005651 name: NOR POLYAGGLUTINATION SYNDROME def: "This is a hematopoietic system disease condition that is characterized by polyagglutination in vitro when exposed to almost all ABO compatible normal sera, but not to cord sera. The trait is transmitted in an autosomal dominant pattern of inheritance and agglutination with control human serum samples could be enhanced when the NOR red blood cells (the agglutinating erythrocytes) were treated with proteolytic enzymes. The anti-NOR antibody has been determined to be IgM." [MIM:111400] xref: MIM:111400 xref: PMID:7072192 is_a: DOID:9005170 ! polyagglutination created_by: slaulede creation_date: 2023-05-05T08:16:57Z [Term] id: DOID:9005652 name: Van Den Bosch Syndrome alt_id: MIM:314500 xref: MESH:C563129 xref: RDO:0012517 is_a: DOID:1059 ! intellectual disability is_a: DOID:11155 ! hypohidrosis is_a: DOID:225 ! syndrome is_a: DOID:2734 ! keratosis follicularis is_a: DOID:9821 ! Choroideremia [Term] id: DOID:9005653 name: Cornea Plana 1 alt_id: MIM:121400 synonym: "CNA1" EXACT [] synonym: "CORNEA PLANA 1, AUTOSOMAL DOMINANT" EXACT [] xref: MESH:C565158 is_a: DOID:0060287 ! cornea plana is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9005655 name: Paragangliomas 2 alt_id: MIM:601650 synonym: "familial glomus tumors 2" EXACT [] synonym: "PGL2" EXACT [] synonym: "pheochromocytoma/paraganglioma syndrome 2" EXACT [] synonym: "PPGL2" EXACT [] xref: MESH:C566646 is_a: DOID:0050773 ! paraganglioma is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9005656 name: Optic Atrophy 13 alt_id: MIM:165510 synonym: "OPA13" EXACT [] synonym: "optic atrophy 13 with retinal and foveal abnormalities" EXACT [] synonym: "optic atrophy with negative electroretinograms" EXACT [] xref: MESH:C563494 is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:9005657 name: Positive-Pressure Respiration, Intrinsic def: "Non-therapeutic positive end-expiratory pressure occurring frequently in patients with severe airway obstruction. It can appear with or without the administration of external positive end-expiratory pressure (POSITIVE-PRESSURE RESPIRATION). It presents an important load on the inspiratory muscles which are operating at a mechanical disadvantage due to hyperinflation. Auto-PEEP may cause profound hypotension that should be treated by intravascular volume expansion, increasing the time for expiration, and/or changing from assist mode to intermittent mandatory ventilation mode. (From Harrison's Principles of Internal Medicine, 12th ed, p1127)" [MESH:D018467] synonym: "Auto PEEP" EXACT [] synonym: "AutoPEEP" EXACT [] synonym: "Intrinsic PEEP" EXACT [] synonym: "Non Therapeutic Positive Pressure Respiration" EXACT [] synonym: "Nontherapeutic Positive Pressure Respiration" EXACT [] synonym: "Occult PEEP" EXACT [] synonym: "Occult Positive-Pressure Respiration" EXACT [] xref: MESH:D018467 xref: RDO:0007208 is_a: DOID:11162 ! respiratory failure [Term] id: DOID:9005658 name: Hypoaldosteronism def: "A congenital or acquired condition of insufficient production of ALDOSTERONE by the ADRENAL CORTEX leading to diminished aldosterone-mediated synthesis of Na(+)-K(+)-EXCHANGING ATPASE in renal tubular cells. Clinical symptoms include HYPERKALEMIA, sodium-wasting, HYPOTENSION, and sometimes metabolic ACIDOSIS." [MESH:D006994] synonym: "Hyporeninemic Hypoaldosteronism" EXACT [] synonym: "Type IV Renal Tubular Acidosis" EXACT [] xref: MESH:D006994 xref: RDO:0003710 is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:9005660 name: Hypopigmentation def: "A condition caused by a deficiency or a loss of melanin pigmentation in the epidermis, also known as hypomelanosis. Hypopigmentation can be localized or generalized, and may result from genetic defects, trauma, inflammation, or infections." [MESH:D017496] synonym: "Hypomelanoses" EXACT [] synonym: "Hypomelanosis" EXACT [] xref: MESH:D017496 xref: RDO:0001250 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:9005662 name: Keratoderma Palmoplantaris Transgrediens synonym: "Erythrokeratodermia Figurata, Congenital Familial, in Plaques" EXACT [] synonym: "Erythrokeratodermia Variabilis with Erythema Gyratum Repens" EXACT [] synonym: "ERYTHROKERATODERMIA VARIABILIS WITH ERYTHEMA GYRATUM REPENS GREITHER DISEASE" RELATED [] synonym: "Greither Disease" EXACT [] synonym: "Keratosis palmoplantaris transgrediens et progrediens" EXACT [] synonym: "transgrediens et progrediens palmoplantar keratoderma" EXACT [] xref: MESH:C536154 is_a: DOID:0050467 ! erythrokeratodermia variabilis is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:9005663 name: Lethal Faciocardiomelic Dysplasia alt_id: MIM:227270 xref: MESH:C565578 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008499 ! Microstomia is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9005664 name: Pentalogy of Cantrell alt_id: MIM:313850 def: "Rare congenital deformity syndrome characterized by a combination of five anomalies as a result of neural tube defect. The five anomalies are a midline supraumbilical abdominal wall defect (e.g., OMPHALOCELE), a lower STERNUM defect, a congenital intracardiac defect, an anterior DIAPHRAGM defect, and a diaphragmatic PERICARDIUM defect (e.g., PERICARDIAL EFFUSION). Variants with incomplete and variable combinations of the defects are known. ECTOPIA CORDIS; CLEFT LIP; and CLEFT PALATE are often associated with the syndrome." [MESH:D058502] synonym: "Cantrell's Pentalogy" EXACT [] synonym: "Cantrell Haller Ravitch syndrome" EXACT [] synonym: "Cantrell Pentalogy" EXACT [] synonym: "Cantrells Pentalogy" EXACT [] synonym: "MIDLINE DEFECTS, X-LINKED" NARROW [] synonym: "THAS" EXACT [] synonym: "Thoracoabdominal Syndrome" EXACT [] synonym: "Thoracoabdominal Syndromes" EXACT [] xref: MESH:D058502 is_a: DOID:0080074 ! neural tube defect is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005665 name: Chronic Mesangial Proliferative Glomerulonephritis def: "Chronic inflammation of the renal glomeruli characterized histologically by proliferation of MESANGIAL CELLS and increase in the MESANGIAL EXTRACELLULAR MATRIX." [] synonym: "Chronic nephritic syndrome, diffuse mesangial proliferative glomerulonephritis" EXACT [] synonym: "PGN - Chronic mesangial proliferative glomerulonephritis" EXACT [] is_a: DOID:4783 ! mesangial proliferative glomerulonephritis [Term] id: DOID:9005666 name: Contrast-Induced Nephropathy def: "Impairment of renal function within 48-72 hours of intravenous contrast administration." [] synonym: "CIN" EXACT [] synonym: "contrast nephropathy" EXACT [] synonym: "hospital-acquired acute kidney injury" RELATED [] xref: RDO:9000018 is_a: DOID:3021 ! acute kidney failure [Term] id: DOID:9005667 name: Patent Ductus Arteriosus and Bicuspid Aortic Valve with Hand Anomalies alt_id: MIM:604381 xref: MESH:C565782 is_a: DOID:13832 ! patent ductus arteriosus is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9005668 name: Dental Medial Diastema alt_id: MIM:125900 xref: MESH:C565098 xref: MONDO:0007457 is_a: DOID:9004595 ! Diastema [Term] id: DOID:9005670 name: Ovarian Pregnancy def: "A type of pregnancy in which EMBRYO IMPLANTATION occurs in an OVARY instead of in the uterine cavity." [MESH:D065172] synonym: "ovarian ectopic pregnancy" EXACT [] synonym: "Ovarian Pregnancies" EXACT [] xref: MESH:D065172 xref: MONDO:0044098 is_a: DOID:0060329 ! ectopic pregnancy [Term] id: DOID:9005671 name: Wells Syndrome synonym: "Bullous cellulitis with eosinophilia" EXACT [] synonym: "Eosinophilic cellulitis" EXACT [] xref: MESH:C536693 is_a: DOID:225 ! syndrome is_a: DOID:3488 ! cellulitis is_a: DOID:9001371 ! Eosinophilia [Term] id: DOID:9005672 name: Maple Syrup Urine Disease, Type 2 alt_id: MIM:620699 synonym: "Intermediate Maple Syrup Urine Disease Type 2" EXACT [] synonym: "MAPLE SYRUP URINE DISEASE, THIAMINE-RESPONSIVE, TYPE II" NARROW [] synonym: "Maple Syrup Urine Disease, Type II" EXACT [] synonym: "MSUD2" EXACT [] xref: MESH:C535712 is_a: DOID:9269 ! maple syrup urine disease [Term] id: DOID:9005673 name: Stenotrophomonas Maltophilia Bacteremia synonym: "Stenotrophomonas maltophilia bacteraemia" EXACT [] xref: MESH:C531821 xref: RDO:0000221 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9005674 name: Hemophilia A with Vascular Abnormality alt_id: MIM:306800 xref: MESH:C564415 is_a: DOID:12134 ! factor VIII deficiency is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:9005676 name: Webb-Dattani Syndrome def: "An autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities." [MIM:615926] synonym: "hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies" EXACT [] synonym: "WEDAS" EXACT [] xref: MIM:615926 is_a: DOID:10907 ! microcephaly is_a: DOID:1432 ! blindness is_a: DOID:1826 ! epilepsy is_a: DOID:557 ! kidney disease is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2020-02-18T11:31:12Z [Term] id: DOID:9005677 name: Encephalomyelitis, Enzootic Porcine def: "A picornavirus infection producing symptoms similar to poliomyelitis in pigs." [MESH:D004682] synonym: "Porcine Poliomyelitis" EXACT [] synonym: "Talfan Disease" EXACT [] synonym: "Teschen Disease" EXACT [] xref: MESH:D004682 xref: RDO:0005476 is_a: DOID:9006549 ! Enterovirus Infections is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9005678 name: Familial Pityriasis Rubra Pilaris alt_id: RDO:0000201 synonym: "Pityriasis rubra pilaris--familial type" EXACT [] xref: MESH:C531784 is_a: DOID:9212 ! pityriasis rubra pilaris [Term] id: DOID:9005679 name: Thrombocytopenia 12 def: "An autosomal recessive disorder characterized by congenital thrombocytopenia apparent from infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the GNE gene on chromosome 9p13." [MIM:620757] synonym: "THC12" EXACT [] synonym: "Thrombocytopenia 12 with or without myopathy" EXACT [] xref: MIM:620757 is_a: DOID:1588 ! thrombocytopenia created_by: tutajm creation_date: 2024-04-22T17:06:13Z [Term] id: DOID:9005680 name: Primary Release Disorder Of Platelets alt_id: MIM:176630 xref: MESH:C566759 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:9005681 name: Leukemia P388 def: "An experimental lymphocytic leukemia originally induced in DBA/2 mice by painting with methylcholanthrene." [MESH:D007941] synonym: "P388D(1) Leukemia" EXACT [] xref: MESH:D007941 xref: RDO:0005986 is_a: DOID:9004441 ! Experimental Leukemia [Term] id: DOID:9005682 name: SHORT STATURE-MICROGNATHIA SYNDROME def: "This disease has core features of intrauterine growth restriction (IUGR): postnatal short stature that is often rhizomelic and micrognathia." [] synonym: "ARCN1-RELATED CONDITION" EXACT [] synonym: "Rhizomelic Short Stature with Microcephaly, Micrognathia, and Developmental Delay" EXACT [] synonym: "SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY" EXACT [] synonym: "SRMMD" EXACT [] synonym: "SSMG" EXACT [] xref: MIM:617164 is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:9005683 name: Metabolic Brain Diseases, Inborn alt_id: RDO:0000346 def: "Brain disorders resulting from inborn metabolic errors, primarily from enzymatic defects which lead to substrate accumulation, product reduction, or increase in toxic metabolites through alternate pathways. The majority of these conditions are familial, however spontaneous mutation may also occur in utero." [MESH:D020739] synonym: "Central Nervous System Inborn Metabolic Diseases" EXACT [] synonym: "Central Nervous System Inborn Metabolic Disorders" EXACT [] synonym: "CNS Metabolic Disorders, Inborn" EXACT [] synonym: "Familial Metabolic Brain Diseases" EXACT [] synonym: "Familial Metabolic Disorders, Brain" EXACT [] synonym: "Inborn Errors of Metabolism, Brain" EXACT [] synonym: "Inborn Metabolic Brain Disorders" EXACT [] synonym: "Inborn Metabolic Brain Syndrome" EXACT [] synonym: "Inherited Metabolic Brain Diseases" EXACT [] synonym: "Inherited Metabolic Disorders, Brain" EXACT [] synonym: "Metabolic Encephalopathies, Inborn" EXACT [] xref: MESH:D020739 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:9005684 name: Foreign-Body Migration def: "Migration of a foreign body from its original location to some other location in the body." [MESH:D005548] synonym: "Foreign-Body Migrations" EXACT [] xref: MESH:D005548 xref: RDO:0005625 is_a: DOID:9003074 ! Foreign Bodies [Term] id: DOID:9005686 name: Dandy Walker Cyst synonym: "Dandy-Walker cysts" EXACT [] xref: MESH:C538507 is_a: DOID:2785 ! Dandy-Walker syndrome [Term] id: DOID:9005687 name: Autosomal Dominant Intellectual Developmental Disorder 64 def: "Characterized by mildly to severely impaired intellectual development (ID) with speech delays. Caused by heterozygous mutation in the ZNF292 gene on chromosome 6q14." [MIM:619188] synonym: "autosomal dominant mental retardation 64" EXACT [] synonym: "MRD64" EXACT [] synonym: "ZNF292-RELATED CONDITION" EXACT [] xref: MIM:619188 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2021-02-19T10:38:31Z [Term] id: DOID:9005688 name: Skull Fracture, Depressed def: "A skull fracture characterized by inward depression of a fragment or section of cranial bone, often compressing the underlying dura mater and brain. Depressed cranial fractures which feature open skin wounds that communicate with skull fragments are referred to as compound depressed skull fractures." [MESH:D020204] synonym: "Compound Depressed Skull Fracture" EXACT [] synonym: "Compound Depressed Skull Fractures" EXACT [] synonym: "Depressed Skull Fractures" EXACT [] xref: MESH:D020204 xref: RDO:0007344 is_a: DOID:9002209 ! Skull Fractures [Term] id: DOID:9005689 name: Philadelphia Chromosome def: "An aberrant form of human CHROMOSOME 22 characterized by translocation of the distal end of chromosome 9 from 9q34, to the long arm of chromosome 22 at 22q11. It is present in the bone marrow cells of 80 to 90 per cent of patients with chronic myelocytic leukemia (LEUKEMIA, MYELOGENOUS, CHRONIC, BCR-ABL POSITIVE)." [MESH:D010677] synonym: "Ph 1 Chromosome" EXACT [] synonym: "Ph1 Chromosome" EXACT [] synonym: "Ph 1 Chromosomes" EXACT [] synonym: "Ph1 Chromosomes" EXACT [] xref: MESH:D010677 xref: RDO:0006338 is_a: DOID:9007973 ! Genetic Translocation [Term] id: DOID:9005690 name: Mandibulofacial Dysostosis with Mental Deficiency alt_id: MIM:248400 synonym: "MANDIBULOFACIAL DYSOSTOSIS WITH MENTAL RETARDATION" EXACT [] xref: MESH:C565420 is_a: DOID:1059 ! intellectual disability is_a: DOID:9008003 ! Mandibulofacial Dysostosis [Term] id: DOID:9005691 name: Spinal Muscular Atrophy, Segmental alt_id: MIM:183020 xref: MESH:C566670 is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:9005692 name: Platelet-Type Bleeding Disorder 25 def: "An autosomal dominant condition characterized by increased susceptibility to bleeding episodes due to decreased or dysfunctional platelets. Caused by heterozygous mutation in the TPM4 gene on chromosome 19p13." [MIM:620486] synonym: "BDPLT25" EXACT [] xref: MIM:620486 is_a: DOID:2218 ! blood platelet disease created_by: mtutaj creation_date: 2023-09-01T09:56:11Z [Term] id: DOID:9005693 name: Uterine Anomalies alt_id: MIM:192000 xref: MESH:C562565 is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9005694 name: Papillary Thyroid Microcarcinoma alt_id: MIM:603744 xref: MESH:C563277 is_a: DOID:3113 ! papillary carcinoma is_a: DOID:3969 ! papillary thyroid carcinoma [Term] id: DOID:9005695 name: Malnutrition def: "An imbalanced nutritional status resulting from insufficient intake of nutrients to meet normal physiological requirement." [MESH:D044342] synonym: "Malnourishment" EXACT [] synonym: "Malnourishments" EXACT [] synonym: "Nutritional Deficiencies" EXACT [] synonym: "Nutritional Deficiency" EXACT [] synonym: "Undernutrition" EXACT [] xref: EFO:0008572 xref: MESH:D044342 is_a: DOID:374 ! nutrition disease [Term] id: DOID:9005697 name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES def: "This disease is characterized by global developmental delay, speech delay, variably impaired intellectual development, behavioral abnormalities, and dysmorphic facial features. Brain imaging is usually normal. Additional features include early feeding difficulties, failure to thrive, short stature, mild visual impairment, hypotonia, seizures (particularly febrile), and distal skeletal defects of the hands and feet" [MIM:620494] synonym: "NEDLBF" EXACT [] xref: MIM:620494 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2023-09-19T14:11:41Z [Term] id: DOID:9005699 name: Congenital Pseudarthrosis of Clavicle alt_id: MIM:118980 xref: MESH:C562548 is_a: DOID:9007640 ! Congenital Pseudoarthrosis [Term] id: DOID:9005700 name: Airway Obstruction def: "Any hindrance to the passage of air into and out of the lungs." [MESH:D000402] synonym: "Airway Obstructions" EXACT [] synonym: "Choking" EXACT [] xref: MESH:D000402 xref: RDO:0004789 is_a: DOID:11162 ! respiratory failure [Term] id: DOID:9005701 name: GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES def: "This is a disease characterized by microcephaly, congenital alopecia, distinctive craniofacial features, severe congenital sensorineural hearing loss, global developmental delay, hydrocephalus, hypoplastic kidneys with renal insufficiency, genital hypoplasia, and early mortality." [MIM:619321] synonym: "GKAF" EXACT [] xref: MIM:619321 is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:987 ! alopecia created_by: slaulede creation_date: 2021-06-17T12:02:06Z [Term] id: DOID:9005702 name: Lubani Al Saleh Teebi Syndrome xref: MESH:C537039 is_a: DOID:1059 ! intellectual disability is_a: DOID:13382 ! megaloblastic anemia is_a: DOID:1485 ! cystic fibrosis is_a: DOID:225 ! syndrome is_a: DOID:9008114 ! Helicobacter Infections [Term] id: DOID:9005703 name: Ruzicka Goerz Anton syndrome synonym: "Ichthyosis deafness mental retardation skeletal anomalies" EXACT [] xref: MESH:C537192 is_a: DOID:0060140 ! cortical deafness is_a: DOID:1059 ! intellectual disability is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9004134 ! Cervical Rib Syndrome is_a: DOID:9004547 ! Thyroid Neoplasms is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9005704 name: Avulsion Fractures def: "Tearing away of the CORTICAL BONE fragment at the location of a strong ligament or tendon attachment. The bone fragment detachment site often occurs near a soft site (e.g., GROWTH PLATE) at the base where LIGAMENTS; TENDONS; or JOINT CAPSULES attach. In younger patients it is most often caused by a sudden forceful pull on a tendon in the opposite direction of the bone movement. In the elderly it is associated with osteoporotic INSUFFICIENCY FRACTURES." [MESH:D000071562] synonym: "Avulsion Fracture" EXACT [] synonym: "Sprain Fracture" EXACT [] synonym: "Sprain Fractures" EXACT [] xref: MESH:D000071562 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9005705 name: Fairbank Disease synonym: "Dysplasia epiphysealis multiplex" EXACT [] synonym: "Epiphyseal dysplasia Fairbank type" EXACT [] synonym: "Epiphyseal Dysplasia, Ribbing Type" EXACT [] synonym: "Fairbank multiple epiphyseal dysplasia" EXACT [] xref: MESH:C536393 xref: RDO:0001964 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9005706 name: Benign Familial Neonatal Seizures, 3 synonym: "benign familial neonatal convulsions, 3" EXACT [] synonym: "BFNC3" EXACT [] synonym: "BFNS3" EXACT [] xref: MIM:608217 is_a: DOID:14264 ! benign neonatal seizures is_a: DOID:14777 ! benign familial neonatal epilepsy created_by: mtutaj creation_date: 2021-02-15T11:08:01Z [Term] id: DOID:9005707 name: Larsen-Like Syndrome, Lethal Type synonym: "Larsen-like multiple joint dislocation syndrome" EXACT [] xref: MESH:C537872 xref: MIM:245650 xref: MONDO:0009512 is_a: DOID:13481 ! thanatophoric dysplasia is_a: DOID:9000896 ! Larsen-Like Syndromes [Term] id: DOID:9005708 name: Hand-Foot Syndrome def: "Chemotherapy-induced dermal side effects that are associated with the use of various CYTOSTATIC AGENTS. Symptoms range from mild ERYTHEMA and/or PARESTHESIA to severe ulcerative dermatitis with debilitating pain involving typically palmoplantar and intertriginous areas. These cutaneous manifestations are sometimes accompanied by nail anomalies." [MESH:D060831] synonym: "Chemotherapy Induced Acral Erythema" EXACT [] synonym: "Chemotherapy-Induced Acral Erythemas" EXACT [] synonym: "Chemotherapy Induced Palmoplantar Erythrodysesthesia" EXACT [] synonym: "Chemotherapy-Induced Palmoplantar Erythrodysesthesias" EXACT [] synonym: "Hand-Foot Syndromes" EXACT [] xref: EFO:1001893 xref: MESH:D060831 xref: RDO:0010051 is_a: DOID:225 ! syndrome is_a: DOID:9005236 ! Drug Eruptions [Term] id: DOID:9005709 name: Keratitis-Ichthyosis-Deafness Syndrome synonym: "keratitis, ichthyosis, and deafness" EXACT [] xref: MESH:C580224 xref: MIM:PS148210 is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:4677 ! keratitis is_a: DOID:9008681 ! Deafness [Term] id: DOID:9005710 name: LONG-OLSEN-DISTELMAIER SYNDROME def: "This disease is a severe, early-onset disease with multiple system involvement and lethal dilated cardiomyopathy (DCM) as a core clinical feature." [MIM:620609] synonym: "LNGODS" EXACT [] xref: MIM:620609 is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:225 ! syndrome created_by: slaulederkind creation_date: 2024-04-04T18:28:46Z [Term] id: DOID:9005711 name: Immunodeficiency 115 def: "An autosomal recessive disorder characterized by the onset of symptoms of immune dysregulation in early infancy. Caused by homozygous or compound heterozygous mutation in the RNF31 gene on chromosome 14q11." [MIM:620632] synonym: "IMD115" EXACT [] synonym: "Immunodeficiency 115 with autoinflammation" EXACT [] xref: MIM:620632 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: tutajm creation_date: 2023-12-04T12:56:59Z [Term] id: DOID:9005712 name: Severe Congenital Liver Disease def: "An autosomal recessive disorder characterized by the onset of progressive hepatic dysfunction usually in the first years of life. Caused by homozygous or compound heterozygous mutation in the FOCAD gene on chromosome 9p21." [MIM:619991] synonym: "FOCAD deficiency" EXACT [] synonym: "FOCAD-RELATED CONDITION" EXACT [] synonym: "SCOLIV" EXACT [] xref: MIM:619991 is_a: DOID:409 ! liver disease created_by: mtutaj creation_date: 2022-08-22T09:18:50Z [Term] id: DOID:9005713 name: Ectopia Cordis def: "A rare developmental defect in which the heart is abnormally located partially or totally outside the THORAX. It is the result of defective fusion of the anterior chest wall. Depending on the location of the heart, ectopia cordis can be thoracic, thoracoabdominal, abdominal, and cervical." [MESH:D054083] xref: MESH:D054083 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9005714 name: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES def: "This disease is characterized by axial hypotonia and global developmental delay apparent in early infancy." [MIM:619580] synonym: "NEDLAS" EXACT [] xref: MIM:619580 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9004866 ! Ataxia is_a: DOID:93 ! language disorder created_by: slaulede creation_date: 2022-12-15T09:54:56Z [Term] id: DOID:9005715 name: Neoplasms, Second Primary def: "Abnormal growths of tissue that follow a previous neoplasm but are not metastases of the latter. The second neoplasm may have the same or different histological type and can occur in the same or different organs as the previous neoplasm but in all cases arises from an independent oncogenic event. The development of the second neoplasm may or may not be related to the treatment for the previous neoplasm since genetic risk or predisposing factors may actually be the cause." [MESH:D016609] synonym: "Metachronous Neoplasm" EXACT [] synonym: "Metachronous Neoplasms" EXACT [] synonym: "Metachronous Second Primary Neoplasms" EXACT [] synonym: "Second Cancer" EXACT [] synonym: "Second Cancers" EXACT [] synonym: "Second Malignancies" EXACT [] synonym: "Second Malignancy" EXACT [] synonym: "Second Neoplasm" EXACT [] synonym: "Second Neoplasms" EXACT [] synonym: "Second Primary Cancer" EXACT [] synonym: "Second Primary Cancers" EXACT [] synonym: "Second Primary Neoplasm" EXACT [] synonym: "Therapy Associated Cancer" EXACT [] synonym: "Therapy-Associated Cancers" EXACT [] synonym: "Therapy-Associated Neoplasm" EXACT [] synonym: "Therapy Associated Neoplasms" EXACT [] synonym: "Therapy Related Cancer" EXACT [] synonym: "Therapy-Related Cancers" EXACT [] synonym: "Therapy-Related Neoplasm" EXACT [] synonym: "Therapy Related Neoplasms" EXACT [] synonym: "Treatment Associated Cancer" EXACT [] synonym: "Treatment-Associated Cancers" EXACT [] synonym: "Treatment-Associated Neoplasm" EXACT [] synonym: "Treatment Associated Neoplasms" EXACT [] synonym: "Treatment Related Cancer" EXACT [] synonym: "Treatment-Related Cancers" EXACT [] synonym: "Treatment-Related Neoplasm" EXACT [] synonym: "Treatment Related Neoplasms" EXACT [] xref: MESH:D016609 xref: RDO:0006982 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:9005716 name: Leiomyoma of Vulva and Esophagus alt_id: MIM:150700 synonym: "Esophagogastric and vulvar leiomyomatosis" EXACT [] xref: MESH:C537006 is_a: DOID:5138 ! leiomyomatosis is_a: DOID:9000117 ! Esophageal Neoplasms is_a: DOID:9004268 ! Uterine Neoplasms [Term] id: DOID:9005717 name: Familial Persistent Stuttering 1 def: "This disease is a disorder of the flow of speech characterized by involuntary repetitions or prolongations of sounds or syllables, and by interruptions of speech known as blocks." [] synonym: "AP4E1-RELATED CONDITION" BROAD [] synonym: "STUT1" EXACT [] synonym: "STUTTERING, FAMILIAL PERSISTENT, 1" EXACT [] xref: MIM:184450 is_a: DOID:0060243 ! stuttering [Term] id: DOID:9005718 name: Hereditary Congenital Facial Paresis 2 synonym: "HCFP2" EXACT [] synonym: "MBS3" EXACT [] synonym: "MOBIUS SYNDROME 3" EXACT [] synonym: "MOEBIUS SYNDROME 3" EXACT [] xref: MIM:604185 is_a: DOID:9001799 ! Hereditary Congenital Facial Paresis created_by: mtutaj creation_date: 2019-03-27T09:55:21Z [Term] id: DOID:9005719 name: Aneurysmal Bone Cysts alt_id: MIM:606179 def: "Fibrous blood-filled cyst in the bone. Although benign it can be destructive causing deformity and fractures." [MESH:D017824] synonym: "Aneurysmal Bone Cyst" EXACT [] xref: EFO:1001760 xref: GARD:8646 xref: HP:0012063 xref: MESH:D017824 xref: MONDO:0018815 xref: NCI:C3516 xref: ORDO:480553 is_a: DOID:9008327 ! Bone Cysts [Term] id: DOID:9005720 name: Autosomal Recessive Nonsyndromic Deafness 119 def: "Characterized by nonsyndromic mild to profound sensorineural hearing loss. Caused by compound heterozygous mutation in the SPATA5L1 gene on chromosome 15q21." [MIM:619615] synonym: "autosomal recessive deafness 119" EXACT [] synonym: "DFNB119" EXACT [] synonym: "SPATA5L1-ASSOCIATED DISORDER" BROAD [] xref: MIM:619615 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: mtutaj creation_date: 2021-11-18T13:31:26Z [Term] id: DOID:9005721 name: Preeclamptic Toxemia synonym: "EPH Toxemia" EXACT [] synonym: "EPH Toxemias" EXACT [] synonym: "pre-eclamptic toxaemia" EXACT [] synonym: "Pregnancy Toxemia" EXACT [] synonym: "Pregnancy Toxemias" EXACT [] synonym: "toxaemia of pregnancy" EXACT [] synonym: "Toxemia Of Pregnancies" EXACT [] synonym: "toxemia of pregnancy" EXACT [] synonym: "toxemic pregnancy" EXACT [] xref: MESH:C538543 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:9005722 name: SHORT STATURE, DAUBER-ARGENTE TYPE def: "This disease is characterized by progressive postnatal growth failure, moderate microcephaly, thin long bones, and mildly decreased bone density. Patients have elevated circulating levels of total IGF1 due to impaired proteolysis of IGFBP3 and IGFBP5, resulting in reduced free IGF1." [MIM:619489] synonym: "SSDA" EXACT [] xref: MIM:619489 is_a: DOID:9007661 ! Dwarfism created_by: slaulede creation_date: 2021-10-29T11:32:11Z [Term] id: DOID:9005723 name: Multibacillary Leprosy def: "A form of LEPROSY classified by the World Health Organization for the purpose of treatment, based on clinical manifestations and skin smear results. Patients with multibacillary leprosy have six or more lesions with or without positive skin smear results for the causative agent MYCOBACTERIUM LEPRAE. Multibacillary leprosy encompasses borderline lepromatous, midborderline, and lepromatous leprosy." [MESH:D056006] synonym: "Borderline Lepromatous" EXACT [] synonym: "Midborderline Lepromatous" EXACT [] synonym: "Multibacillary Leprosies" EXACT [] xref: MESH:D056006 is_a: DOID:1024 ! leprosy [Term] id: DOID:9005724 name: Fungal Lung Diseases def: "Pulmonary diseases caused by fungal infections, usually through hematogenous spread." [MESH:D008172] synonym: "Fungal Lung Disease" EXACT [] synonym: "fungal lung infectious disease" EXACT [] synonym: "Pulmonary Fungal Disease" EXACT [] synonym: "Pulmonary Fungal Diseases" EXACT [] synonym: "Pulmonary Fungal Infection" EXACT [] synonym: "Pulmonary Fungal Infections" EXACT [] xref: EFO:0007278 xref: MESH:D008172 is_a: DOID:1564 ! fungal infectious disease is_a: DOID:850 ! lung disease is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:9005725 name: Iron Overload alt_id: MIM:620121 def: "An excessive accumulation of iron in the body due to a greater than normal absorption of iron from the gastrointestinal tract or from parenteral injection. This may arise from idiopathic hemochromatosis, excessive iron intake, chronic alcoholism, certain types of refractory anemia, or transfusional hemosiderosis. (From Churchill's Illustrated Medical Dictionary, 1989)" [MESH:D019190] synonym: "Iron overload, susceptibility to" RELATED [] xref: MESH:D019190 is_a: DOID:2351 ! iron metabolism disease [Term] id: DOID:9005727 name: Infantile Multisystem Neurologic Disease with Osseous Fragility alt_id: MIM:256720 xref: MESH:C564954 is_a: DOID:1059 ! intellectual disability is_a: DOID:11476 ! osteoporosis is_a: DOID:863 ! nervous system disease is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9005560 ! Congenital Hip Dislocation [Term] id: DOID:9005728 name: Posterior Polar Cataract 11 with Microphthalmia and Neurodevelopmental Abnormalities xref: RDO:9000345 is_a: DOID:0110249 ! cataract 11 multiple types created_by: rgd creation_date: 2016-06-10T00:00:00Z [Term] id: DOID:9005729 name: Chronic Experimental Pancreatitis def: "Prolonged inflammation of the pancreas induced experimentally in laboratory animals." [] is_a: DOID:9006190 ! Chronic Pancreatitis is_a: DOID:9006263 ! Experimental Pancreatitis [Term] id: DOID:9005730 name: Amino Acid Transport Disorders, Inborn def: "Disorders characterized by defective transport of amino acids across cell membranes. These include deficits in transport across brush-border epithelial cell membranes of the small intestine (MICROVILLI) and KIDNEY TUBULES; transport across the basolateral membrane; and transport across the membranes of intracellular organelles. (From Nippon Rinsho 1992 Jul;50(7):1587-92)" [MESH:D020157] synonym: "Inherited Amino Acid Transport Disorders" EXACT [] xref: MESH:D020157 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9005732 name: Elliptocytosis 1 alt_id: MIM:611804 synonym: "4.1-Minus Trait" EXACT [] synonym: "4.1- TRAIT" EXACT [] synonym: "EL1" EXACT [] synonym: "Elliptocytosis, Rhesus-Linked Type" EXACT [] synonym: "Protein 4.1 of Erythrocyte Membrane, Defect of" EXACT [] xref: MESH:C567520 is_a: DOID:2373 ! hereditary elliptocytosis [Term] id: DOID:9005733 name: Amelia and Terminal Transverse Hemimelia alt_id: MIM:104400 xref: MESH:C566294 is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9005734 name: Abdominal Pain def: "Sensation of discomfort, distress, or agony in the abdominal region." [MESH:D015746] synonym: "Abdominal Pains" EXACT [] synonym: "Colicky Pain" EXACT [] synonym: "Colicky Pains" EXACT [] xref: EFO:0003766 xref: MESH:D015746 xref: RDO:0004684 is_a: DOID:9000641 ! Pain is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9005735 name: Ulnar Hypoplasia with Lobster-Claw Deformity of Feet alt_id: MIM:314360 synonym: "Familial ulnar aplasia and lobster claw syndrome" EXACT [] synonym: "Severe ulnar aplasia and lobster claw feet" EXACT [] synonym: "van den Berghe Dequeker syndrome" EXACT [] xref: MESH:C536936 is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004402 ! Congenital Upper Extremity Deformities [Term] id: DOID:9005736 name: Pallor def: "A clinical manifestation consisting of an unnatural paleness of the skin." [MESH:D010167] synonym: "Pallors" EXACT [] xref: MESH:D010167 is_a: DOID:9007472 ! Skin Manifestations [Term] id: DOID:9005738 name: Major Depressive Disorder 2 synonym: "MDD2" EXACT [] synonym: "Unipolar Depression 2" EXACT [] xref: MESH:C563875 xref: MIM:608691 xref: MONDO:0012100 is_a: DOID:1470 ! major depressive disorder [Term] id: DOID:9005739 name: Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness alt_id: MIM:235740 xref: MESH:C565518 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1148 ! polydactyly is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9008681 ! Deafness [Term] id: DOID:9005740 name: Pyruvate Dehydrogenase Phosphatase Deficiency alt_id: MIM:608782 synonym: "Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency" EXACT [] synonym: "PDHPD" EXACT [] xref: MESH:C536258 xref: RDO:0001763 is_a: DOID:3650 ! lactic acidosis [Term] id: DOID:9005741 name: Intracranial Embolism and Thrombosis def: "Embolism or thrombosis involving blood vessels which supply intracranial structures. Emboli may originate from extracranial or intracranial sources. Thrombosis may occur in arterial or venous structures." [MESH:D002542] synonym: "Brain Embolism and Thrombosis" EXACT [] synonym: "Cerebral Embolism and Thrombosis" EXACT [] xref: MESH:D002542 is_a: DOID:6713 ! cerebrovascular disease is_a: DOID:9003121 ! Thromboembolism [Term] id: DOID:9005742 name: Thrombocythemia, X-Linked synonym: "THCYTX" EXACT [] synonym: "X-linked thrombocytosis" EXACT [] synonym: "X-linked thrombocytosis, familial" EXACT [] xref: MESH:C564532 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2228 ! thrombocytosis [Term] id: DOID:9005743 name: Curly Hair-Acral Keratoderma-Caries Syndrome alt_id: MIM:607656 xref: MESH:C536220 is_a: DOID:161 ! keratosis is_a: DOID:216 ! dental caries is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005744 name: Mental Retardation, X-Linked, Syp-Related synonym: "MRXSYP" EXACT [] xref: MESH:C567584 xref: RDO:0015631 is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9005745 name: Stillbirth def: "The event that a FETUS is born dead or stillborn." [MESH:D050497] synonym: "Stillbirths" EXACT [] xref: MESH:D050497 is_a: DOID:9001916 ! Fetal Death [Term] id: DOID:9005746 name: Colobomatous Macrophthalmia with Microcornea synonym: "MACOM" EXACT [] xref: MESH:C566533 xref: MIM:602499 xref: MONDO:0011239 is_a: DOID:10124 ! corneal disease is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9005747 name: Multiple Congenital Anomalies/Dysmorphic Syndrome-Intellectual Disability is_a: DOID:1059 ! intellectual disability is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005749 name: Necrosis alt_id: RDO:0005338 def: "The pathological process occurring in cells that are dying from irreparable injuries. It is caused by the progressive, uncontrolled action of degradative ENZYMES, leading to MITOCHONDRIAL SWELLING, nuclear flocculation, and cell lysis. It is distinct it from APOPTOSIS, which is a normal, regulated cellular process." [MESH:D009336] synonym: "Necroses" EXACT [] xref: EFO:0009426 xref: MESH:D009336 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9005750 name: Melorheostosis with Osteopoikilosis xref: MESH:C563593 xref: RDO:0012814 is_a: DOID:11991 ! Osteopoikilosis is_a: DOID:4253 ! melorheostosis [Term] id: DOID:9005751 name: Prostate Cancer, Hereditary, 4 alt_id: MIM:608658 synonym: "hereditary prostate cancer on chromosome 7" EXACT [] synonym: "HPC4" EXACT [] xref: MESH:C563882 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9005752 name: Aortic Aneurysm, Familial Abdominal 2 alt_id: MIM:609782 alt_id: RDO:0009880 synonym: "AAA2" EXACT [] xref: MESH:C565229 xref: RDO:0013931 is_a: DOID:7693 ! abdominal aortic aneurysm [Term] id: DOID:9005753 name: Hallux Limitus def: "A bony proliferation and articular degeneration of the first METATARSOPHALANGEAL JOINT that is characterized by pain and a progressive decrease in the dorsiflexion range of motion." [MESH:D020857] xref: MESH:D020857 is_a: DOID:381 ! arthropathy is_a: DOID:9000083 ! Foot Deformities, Acquired is_a: DOID:9002096 ! Foot Injuries [Term] id: DOID:9005754 name: Hypoalgesia def: "A diminished perception of a painful stimulus to a degree that varies significantly from a normal perception of the same stimulus." [] synonym: "Hypalgesia" EXACT [] is_a: DOID:9000641 ! Pain is_a: DOID:9008625 ! Somatosensory Disorders [Term] id: DOID:9005755 name: Hamartomatous Lip alt_id: MIM:151640 synonym: "Enlargement of Lower Lip" EXACT [] xref: MESH:C563621 is_a: DOID:9007253 ! Hamartoma is_a: DOID:9297 ! lip disease [Term] id: DOID:9005756 name: Herrmann Syndrome alt_id: MIM:172500 synonym: "photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction" EXACT [] xref: MESH:C538113 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease is_a: DOID:9007722 ! Myoclonus is_a: DOID:9008681 ! Deafness is_a: DOID:9351 ! diabetes mellitus is_a: DOID:9743 ! diabetic neuropathy [Term] id: DOID:9005757 name: Metapneumovirus infections def: "Infections with viruses of the genus Metapneumovirus, a genus of the subfamily PNEUMOVIRINAE that includes human Metapneumovirus and avian Metapneumovirus." [MESH:D029121] synonym: "HMPV infection" NARROW [] synonym: "Metapneumovirus infection" EXACT [] xref: MESH:D029121 xref: PMID:25953917 is_a: DOID:9005956 ! Pneumovirinae infections created_by: slaulede creation_date: 2020-12-21T16:35:02Z [Term] id: DOID:9005760 name: Presbycusis 1 alt_id: MIM:612448 synonym: "Age-Related Hearing Impairment 1" EXACT [] synonym: "ARHI1" EXACT [] xref: MESH:C567305 is_a: DOID:9000307 ! Presbycusis [Term] id: DOID:9005761 name: Mismatch Repair Cancer Syndrome 2 synonym: "MMRCS2" EXACT [] xref: MIM:619096 is_a: DOID:0112182 ! mismatch repair cancer syndrome created_by: mtutaj creation_date: 2020-11-30T11:40:57Z [Term] id: DOID:9005762 name: Trigonocephaly 2 synonym: "TRIGNO2" EXACT [] xref: MIM:614485 is_a: DOID:9007261 ! Nonsyndromic Trigonocephaly [Term] id: DOID:9005763 name: Autoimmune Polyendocrine Syndrome Type 3 synonym: "APS III" EXACT [] synonym: "Autoimmune Polyglandular Syndrome, Type 3" EXACT [] synonym: "Autoimmune Polyglandular Syndrome Type III" EXACT [] is_a: DOID:14040 ! autoimmune polyendocrine syndrome created_by: mtutaj creation_date: 2020-01-09T10:01:49Z [Term] id: DOID:9005764 name: Short QT Syndrome 1 alt_id: MIM:609620 synonym: "KCNH2-RELATED CONDITION" BROAD [] synonym: "KCNH2-RELATED DISORDERS" BROAD [] synonym: "SHORT QT SYNDROME TYPE 1" EXACT [] synonym: "SQT1" EXACT [] xref: MESH:C566506 is_a: DOID:0050793 ! short QT syndrome is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9005765 name: Autoinflammation with Pulmonary and Cutaneous Vasculitis def: "A disorder of immune dysregulation manifest as skin lesions (petechiae and purpura) appearing soon after birth followed by progressive pulmonary involvement causing restrictive lung disease and respiratory insufficiency. Caused by heterozygous mutation in the HCK gene on chromosome 20q11." [MIM:620296] synonym: "AIPCV" EXACT [] xref: MIM:620296 is_a: DOID:865 ! vasculitis is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2023-03-31T09:04:39Z [Term] id: DOID:9005767 name: Scoliosis, Arachnodactyly, and Blindness alt_id: MIM:612445 xref: MESH:C567309 is_a: DOID:0060249 ! scoliosis is_a: DOID:1432 ! blindness is_a: DOID:9005367 ! Arachnodactyly [Term] id: DOID:9005768 name: Thinness def: "A state of insufficient flesh on the body usually defined as having a body weight less than skeletal and physical standards. Depending on age, sex, and genetic background, a BODY MASS INDEX of less than 18.5 is considered as underweight." [MESH:D013851] synonym: "Leanness" EXACT [] synonym: "Leanness, inherited" NARROW [] synonym: "Underweight" EXACT [] xref: MESH:D013851 is_a: DOID:9007633 ! Body Weight [Term] id: DOID:9005769 name: Hypotonia, Seizures, and Precocious Puberty alt_id: MIM:612777 xref: MESH:C567566 is_a: DOID:1826 ! epilepsy is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9007284 ! Precocious Puberty [Term] id: DOID:9005770 name: Oocyte Maturation Defect 3 synonym: "EMPTY FOLLICLE SYNDROME" EXACT [] synonym: "Oocyte/zygote/embryo maturation arrest 3" EXACT [] synonym: "OOMD3" EXACT [] synonym: "OZEMA3" EXACT [] xref: MIM:617712 is_a: DOID:9007456 ! Female Infertility created_by: rgd creation_date: 2017-11-21T00:00:00Z [Term] id: DOID:9005771 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 7 def: "An autosomal dominant disorder characterized by variable manifestations associated with shortened telomeres. Caused by heterozygous mutation in the NAF1 gene on chromosome 4q32." [MIM:620365] synonym: "NAF1-RELATED CONDITION" EXACT [] synonym: "PFBMFT7" EXACT [] xref: MIM:620365 is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related created_by: mtutaj creation_date: 2023-05-12T09:24:45Z [Term] id: DOID:9005772 name: Chromosome 16, Trisomy synonym: "Mosaic trisomy 16" EXACT [] synonym: "Trisomy 16" EXACT [] xref: MESH:C538041 xref: NCI:C125660 xref: NCI:C37866 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9005773 name: Intestinal Polyposis, Osteomas, Sebaceous Cysts synonym: "Polyposis coli and multiple hard and soft tissue tumors" EXACT [] xref: MESH:C535644 xref: RDO:0000878 is_a: DOID:9009045 ! Gardner Syndrome [Term] id: DOID:9005774 name: Alpha/Beta T-Cell Lymphopenia with Gamma/Delta T-Cell Expansion, Severe Cytomegalovirus Infection, and Autoimmunity alt_id: MIM:609889 xref: MESH:C563691 is_a: DOID:417 ! autoimmune disease is_a: DOID:9006262 ! Cytomegalovirus Infections is_a: DOID:9008671 ! T-Lymphocytopenia [Term] id: DOID:9005775 name: Perinatal Asphyxia def: "A pathological condition caused by lack of oxygen, manifested in impending or actual cessation of life at the fetal or neonatal stage." [] synonym: "fetal anoxia" NARROW [] synonym: "intrauterine asphyxia" NARROW [] is_a: DOID:9001041 ! Asphyxia created_by: rgd creation_date: 2017-06-27T00:00:00Z [Term] id: DOID:9005776 name: Kyrle Disease alt_id: MIM:149500 synonym: "Hyperkeratosis follicularis et parafollicularis in cutem penetrans" EXACT [] synonym: "Kyrle's disease" EXACT [] xref: MESH:C538130 is_a: DOID:2734 ! keratosis follicularis [Term] id: DOID:9005777 name: Nevus of Ota def: "A macular lesion on the side of the FACE, involving the CONJUNCTIVA and EYELIDS, as well as the adjacent facial skin, SCLERA; OCULOMOTOR MUSCLES; and PERIOSTEUM. Histological features vary from those of a MONGOLIAN SPOT to those of a BLUE NEVUS." [MESH:D009507] synonym: "Ota's Nevus" EXACT [] synonym: "Ota Nevus" EXACT [] synonym: "Otas Nevus" EXACT [] xref: EFO:1000396 xref: MESH:D009507 xref: RDO:0006218 is_a: DOID:9005120 ! Pigmented Nevus [Term] id: DOID:9005778 name: Annular Epidermolytic Ichthyosis def: "A rare clinical variant of epidermolytic ichthyosis (EI) characterized by the presence of a blistering phenotype at birth and the development from early infancy of annular polycyclic erythematous scales on the trunk and extremities. (Orphanet)" [] synonym: "AEI" EXACT [] synonym: "annular epidermolytic ichthyosis" EXACT [] synonym: "CIEHK" EXACT [] xref: MESH:C564367 xref: MONDO:0011870 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:4603 ! epidermolytic hyperkeratosis created_by: mtutaj creation_date: 2022-12-06T08:15:37Z [Term] id: DOID:9005779 name: Polyploidy def: "The chromosomal constitution of a cell containing multiples of the normal number of CHROMOSOMES; includes triploidy (symbol: 3N), tetraploidy (symbol: 4N), etc." [MESH:D011123] synonym: "Polyploid" EXACT [] synonym: "Polyploid Cell" EXACT [] synonym: "Polyploid Cells" EXACT [] synonym: "Polyploidies" EXACT [] synonym: "Polyploids" EXACT [] xref: MESH:D011123 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9005780 name: Spongiform Encephalopathy with Neuropsychiatric Features alt_id: MIM:606688 xref: MESH:C564678 is_a: DOID:150 ! disease of mental health is_a: DOID:649 ! prion disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:9005781 name: Adams-Oliver Syndrome 5 def: "A rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). (OMIM)" [] synonym: "AOS5" EXACT [] synonym: "NOTCH1-RELATED CONDITION" BROAD [] synonym: "NOTCH1-RELATED DISORDER" BROAD [] xref: MIM:616028 is_a: DOID:0060227 ! Adams-Oliver syndrome created_by: rgd creation_date: 2016-07-12T00:00:00Z [Term] id: DOID:9005782 name: Carotid Intimal Medial Thickness 1 alt_id: MIM:609338 synonym: "CIMT1" EXACT [] synonym: "Intimal Medial Thickness of Internal Carotid Artery" EXACT [] xref: MESH:C563733 xref: RDO:0012917 is_a: DOID:1936 ! atherosclerosis [Term] id: DOID:9005783 name: Primary Basilar Impression alt_id: MIM:109500 xref: MESH:C566226 is_a: DOID:9001121 ! Platybasia [Term] id: DOID:9005784 name: Skeletal Dysplasia with Delayed Epiphyseal and Carpal Bone Ossification alt_id: MIM:182255 xref: MESH:C566687 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9005785 name: Altitude Sickness alt_id: MIM:616182 def: "Multiple symptoms associated with reduced oxygen at high ALTITUDE." [MESH:D000532] synonym: "acute hypobaric hypoxia" EXACT [] synonym: "Altitude Hypoxia" EXACT [] synonym: "Altitude Hypoxias" EXACT [] synonym: "Chronic mountain sickness, susceptibility to" RELATED [] synonym: "Monge's disease" EXACT [] synonym: "Mountain Sickness" EXACT [] xref: EFO:0010143 xref: EFO:1000782 xref: MESH:D000532 is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9005786 name: RHYNS Syndrome alt_id: MIM:602152 synonym: "Retinitis pigmentosa, HYpopituitarism, Nephronophthisis, and mild Skeletal dysplasia" EXACT [] synonym: "Retinitis pigmentosa syndrome" EXACT [] synonym: "RHYNS" EXACT [] xref: MESH:C537612 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:9005787 name: Dimauro Disease alt_id: MIM:261670 synonym: "Deficiency Mutase Phosphoglycerate" EXACT [] synonym: "Glycogen Storage Disease X" EXACT [] synonym: "Gsd10" EXACT [] synonym: "Gsd X" EXACT [] synonym: "Human muscle phosphoglycerate mutase deficiency" EXACT [] synonym: "Myopathy due to phosphoglycerate mutase deficiency" EXACT [] synonym: "Pgam Deficiency" EXACT [] synonym: "PGAMM deficiency" EXACT [] synonym: "Phosphoglycerate Mutase, Muscle, Deficiency of" EXACT [] xref: MESH:C536176 is_a: DOID:0080000 ! muscular disease is_a: DOID:557 ! kidney disease [Term] id: DOID:9005789 name: Hypertrophic Cardiomyopathy 28 def: "Characterized by asymmetric septal hypertrophy, atrial fibrillation and nonsustained ventricular tachycardia, and risk of sudden death. Caused by heterozygous mutation in the FHOD3 gene on chromosome 18q12. (OMIM)" [] synonym: "CMH28" EXACT [] synonym: "familial hypertrophic cardiomyopathy 28" EXACT [] synonym: "FHOD3-related condition" BROAD [] xref: MIM:619402 xref: MONDO:0030317 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy created_by: mtutaj creation_date: 2021-07-01T15:33:43Z [Term] id: DOID:9005790 name: Intellectual Developmental Disorder, Autosomal Dominant, FRA12A Type alt_id: MIM:136630 synonym: "INTELLECTUAL DISABILITY, FRA12A TYPE" EXACT [] synonym: "mental retardation, FRA12A type" EXACT [] xref: MESH:C566980 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:1059 ! intellectual disability [Term] id: DOID:9005791 name: Branchiootic Syndrome 2 alt_id: MIM:120502 alt_id: RDO:0013894 synonym: "BOS2" EXACT [] synonym: "BO Syndrome 2" EXACT [] xref: MESH:C565171 is_a: DOID:0060232 ! branchiootic syndrome [Term] id: DOID:9005792 name: Chromosome 9 Inversion or Duplication synonym: "Trisomy 9 translocation" EXACT [] xref: MESH:C538021 xref: RDO:0003955 is_a: DOID:9007973 ! Genetic Translocation [Term] id: DOID:9005793 name: African Hemochromatosis synonym: "African Siderosis" EXACT [] xref: MESH:C579887 xref: RDO:0015861 is_a: DOID:10328 ! siderosis [Term] id: DOID:9005795 name: Schaefer Stein Oshman Syndrome synonym: "Craniodiaphyseal dysplasia, dominant" EXACT [] synonym: "Dominantly inherited craniodiaphyseal dysplasia" EXACT [] xref: MESH:C536627 xref: RDO:0002263 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005797 name: Pseudolymphoma def: "A group of disorders having a benign course but exhibiting clinical and histological features suggestive of malignant lymphoma. Pseudolymphoma is characterized by a benign infiltration of lymphoid cells or histiocytes which microscopically resembles a malignant lymphoma. (From Dorland, 28th ed & Stedman, 26th ed)" [MESH:D019310] synonym: "Lymphocytoma" EXACT [] synonym: "Lymphocytomas" EXACT [] synonym: "Pseudolymphomas" EXACT [] synonym: "Reactive Lymphoid Hyperplasia" EXACT [] synonym: "Reactive Lymphoid Hyperplasias" EXACT [] xref: EFO:1001831 xref: MESH:D019310 xref: RDO:0007267 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:9005798 name: Jeune Syndrome Situs Inversus xref: MESH:C537572 xref: RDO:0003436 is_a: DOID:12714 ! Ellis-Van Creveld syndrome is_a: DOID:758 ! situs inversus [Term] id: DOID:9005799 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 8 def: "An autosomal dominant disorder characterized by the onset of progressive pulmonary fibrosis in adulthood. Caused by heterozygous mutation in the POT1 gene on chromosome 7q31." [MIM:620367] synonym: "PFBMFT8" EXACT [] xref: MIM:620367 is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related created_by: mtutaj creation_date: 2023-05-12T09:22:56Z [Term] id: DOID:9005800 name: AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2 def: "This disease is an X-linked recessive disorder characterized by the onset of inflammatory symptoms in the first decade of life in male patients. The disorder results from a defect in ELF4, which normally acts as a negative regulator of inflammatory disease." [MIM:301074] synonym: "AIFBL2" EXACT [] synonym: "DEFICIENCY IN ELF4, X-LINKED" EXACT [] synonym: "DEX" EXACT [] xref: MIM:301074 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:9005986 ! Familial Behcet-Like Autoinflammatory Syndrome created_by: slaulede creation_date: 2022-06-10T10:48:26Z [Term] id: DOID:9005801 name: Diets-Jongmans Syndrome def: "An autosomal dominant disorder characterized by mild to moderately impaired intellectual development with a recognizable facial gestalt. Caused by heterozygous mutation in the KDM3B gene on chromosome 5q31. (OMIM)" [] synonym: "DIJOS" EXACT [] synonym: "IDDFD" EXACT [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH DISTINCTIVE FACIAL DYSMORPHISM" EXACT [] xref: EFO:0010740 xref: MIM:618846 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2020-06-19T15:00:45Z [Term] id: DOID:9005802 name: Dennis Fairhurst Moore Syndrome synonym: "Hallermam Streiff like syndrome" EXACT [] xref: MESH:C538210 xref: RDO:0004154 is_a: DOID:225 ! syndrome is_a: DOID:4534 ! Hallermann-Streiff syndrome [Term] id: DOID:9005803 name: Intranuclear Rod Myopathy synonym: "Intranuclear Nemaline Rod Myopathy" EXACT [] synonym: "Nemaline Myopathy with Exclusively Intranuclear Rods" EXACT [] xref: MESH:C580202 xref: RDO:0015901 is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:9005804 name: Vulvar Neoplasms def: "Tumors or cancer of the VULVA." [MESH:D014846] synonym: "neoplasm of vulva" EXACT [] synonym: "vulval neoplasm" EXACT [] synonym: "vulva neoplasm" EXACT [] synonym: "vulva neoplasms" EXACT [] synonym: "vulvar neoplasm" EXACT [] synonym: "vulvar tumor" EXACT [] xref: MESH:D014846 xref: NCI:C3443 is_a: DOID:2059 ! vulvar disease is_a: DOID:9007399 ! Female Genital Neoplasms [Term] id: DOID:9005805 name: Thrombocytopenia 5 def: "An autosomal dominant disorder characterized by a decreased number of platelets and a bleeding tendency. Affected individuals have an increased susceptibility to the development of hematologic malignancies, and possibly to solid neoplasms. (OMIM)" [] synonym: "ETV6-RELATED CONDITION" BROAD [] synonym: "THC5" EXACT [] synonym: "THROMBOCYTOPENIA 5 WITH INCREASED SUSCEPTIBILITY TO MALIGNANCY" EXACT [] synonym: "THROMBOCYTOPENIA, AUTOSOMAL DOMINANT, 5" EXACT [] xref: MIM:616216 is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9005806 name: Nasopalpebral Lipoma Coloboma Syndrome alt_id: MIM:167730 synonym: "Palpebral coloboma lipoma Syndrome" EXACT [] xref: MESH:C538338 is_a: DOID:12270 ! coloboma is_a: DOID:2173 ! eyelid benign neoplasm is_a: DOID:225 ! syndrome is_a: DOID:3315 ! lipoma is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005807 name: Veterinary Venereal Tumors def: "Tumors most commonly seen on or near the genitalia. They are venereal, most likely transmitted through transplantation of cells by contact. Metastases have been reported. Spontaneous regression may occur." [MESH:D014685] synonym: "Transmissible Venereal Tumor" EXACT [] synonym: "Transmissible Venereal Tumors" EXACT [] synonym: "Veterinary Venereal Tumor" EXACT [] xref: MESH:D014685 xref: NCI:C162473 is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9007150 ! Urogenital Neoplasms [Term] id: DOID:9005808 name: Distal Renal Tubular Acidosis 3, Autosomal Recessive alt_id: MESH:C537758 alt_id: MESH:C566428 synonym: "autosomal recessive distal renal tubular acidosis-3 with or without sensorineural hearing loss" EXACT [] synonym: "autosomal recessive renal tubular acidosis with preserved hearing" NARROW [] synonym: "distal renal tubular acidosis, autosomal recessive, with late-onset sensorineural hearing loss" NARROW [] synonym: "distal renal tubular acidosis, recessive" BROAD [] synonym: "distal RTA, autosomal recessive" BROAD [] synonym: "DRTA3" EXACT [] synonym: "RENAL TUBULAR ACIDOSIS, DISTAL, 3, WITH OR WITHOUT SENSORINEURAL HEARING LOSS" EXACT [] synonym: "RTADR" EXACT [] xref: MIM:602722 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9007406 ! Distal Renal Tubular Acidosis [Term] id: DOID:9005809 name: Thyroid Nodule def: "A small circumscribed mass in the THYROID GLAND that can be of neoplastic growth or non-neoplastic abnormality. It lacks a well-defined capsule or glandular architecture. Thyroid nodules are often benign but can be malignant. The growth of nodules can lead to a multinodular goiter (GOITER, NODULAR)." [MESH:D016606] synonym: "Thyroid Nodules" EXACT [] xref: EFO:1001436 xref: MESH:D016606 is_a: DOID:9004547 ! Thyroid Neoplasms [Term] id: DOID:9005810 name: Autosomal Dominant Intellectual Developmental Disorder 59 synonym: "Autosomal Dominant Mental Retardation 59" EXACT [] synonym: "intellectual developmental disorder 59" EXACT [] synonym: "MRD59" EXACT [] xref: MIM:618522 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2020-01-23T12:51:25Z [Term] id: DOID:9005811 name: HUPRA Syndrome def: "This disease is a severe autosomal recessive multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely." [] synonym: "HUPRAS" EXACT [] synonym: "HYPERURICEMIA, PULMONARY HYPERTENSION, RENAL FAILURE, AND ALKALOSIS" EXACT [] synonym: "hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome" EXACT [] xref: MIM:613845 is_a: DOID:1074 ! kidney failure is_a: DOID:1920 ! hyperuricemia is_a: DOID:225 ! syndrome is_a: DOID:6432 ! pulmonary hypertension is_a: DOID:9007331 ! Alkalosis [Term] id: DOID:9005812 name: Aplastic Anemia, Idiopathic xref: MESH:C538494 xref: RDO:0004447 is_a: DOID:12449 ! aplastic anemia [Term] id: DOID:9005813 name: DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES def: "This disease is an autosomal dominant disorder with a nonspecific phenotype of developmental delay with other possible features." [MIM:619575] synonym: "DDIB" EXACT [] synonym: "DEVELOPMENTAL DELAY WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES" NARROW [] xref: MIM:619575 is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2021-12-09T15:49:29Z [Term] id: DOID:9005814 name: Prader-Willi Habitus, Osteopenia, and Camptodactyly alt_id: MIM:264010 synonym: "Urban Rogers Meyer syndrome" EXACT [] xref: MESH:C538276 is_a: DOID:11476 ! osteoporosis is_a: DOID:11983 ! Prader-Willi syndrome [Term] id: DOID:9005815 name: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Recessive synonym: "Progressive External Ophthalmoplegia, Autosomal Recessive" EXACT [] synonym: "PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, DIGENIC" NARROW [] xref: MESH:C564926 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:12558 ! chronic progressive external ophthalmoplegia [Term] id: DOID:9005816 name: NEURODEVELOPMENTAL DISORDER WITH INFANTILE EPILEPTIC SPASMS def: "This disease is characterized by onset of severe and frequent epileptic spasms within the first year of life. Affected individuals have global developmental delay with delayed walking and poor or absent speech." [MIM:619373] synonym: "NEDIES" EXACT [] xref: MIM:619373 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-02-11T15:59:09Z [Term] id: DOID:9005817 name: Czech Dysplasia, Metatarsal Type alt_id: MIM:609162 synonym: "Czech dysplasia" EXACT [] synonym: "OSTEOARTHRITIS WITH MILD SPONDYLOEPIPHYSEAL DYSPLASIA" EXACT [] synonym: "Progressive Pseudorheumatoid Dysplasia with Hypoplastic Toes" EXACT [] synonym: "Spondyloarthropathy with Short Third and Fourth Toes" EXACT [] synonym: "spondyloepiphyseal dysplasia with precocious osteoarthritis" EXACT [] xref: MESH:C535766 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9005818 name: Serum Sickness def: "Immune complex disease caused by the administration of foreign serum or serum proteins and characterized by fever, lymphadenopathy, arthralgia, and urticaria. When they are complexed to protein carriers, some drugs can also cause serum sickness when they act as haptens inducing antibody responses." [MESH:D012713] synonym: "Serum Sicknesses" EXACT [] xref: MESH:D012713 xref: RDO:0006553 is_a: DOID:1557 ! hypersensitivity reaction type III disease is_a: DOID:9005236 ! Drug Eruptions [Term] id: DOID:9005819 name: Hereditary Hemorrhagic Telangiectasia, Type 2 synonym: "Haemorrhagic telangiectasia 2" NARROW [] synonym: "HHT2 PULMONARY ARTERIAL HYPERTENSION, HEREDITARY HEMORRHAGIC TELANGIECTASIA-RELATED," EXACT [] synonym: "LIP TELANGIECTASIA" NARROW [] synonym: "ORAL CAVITY TELANGIECTASIA" NARROW [] synonym: "Osler-Rendu-Weber Syndrome 2" EXACT [] synonym: "TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE II" EXACT [] xref: MESH:C537139 xref: MIM:600376 xref: MONDO:0010880 is_a: DOID:1270 ! hereditary hemorrhagic telangiectasia [Term] id: DOID:9005820 name: Congenital Myopathy with Excess of Muscle Spindles alt_id: RDO:0015110 xref: MESH:C566896 is_a: DOID:0081337 ! congenital myopathy [Term] id: DOID:9005821 name: Intestinal Lymphangiectasis alt_id: MIM:152800 def: "Dilatation of the intestinal lymphatic system usually caused by an obstruction in the intestinal wall. It may be congenital or acquired and is characterized by DIARRHEA; HYPOPROTEINEMIA; peripheral and/or abdominal EDEMA; and PROTEIN-LOSING ENTEROPATHIES." [MESH:D008201] synonym: "intestinal lymphangiectases" EXACT [] synonym: "intestinal lymphangiectasia" EXACT [] xref: MESH:D008201 is_a: DOID:9002213 ! Lymphatic Abnormalities is_a: DOID:9002335 ! Lymphangiectasis [Term] id: DOID:9005822 name: BRAIN ABNORMALITIES, NEURODEGENERATION, AND DYSOSTEOSCLEROSIS def: "An autosomal recessive disorder characterized by brain abnormalities, progressive neurologic deterioration, and sclerotic bone dysplasia similar to dysosteosclerosis (DOS). Neurologic features include loss of previous motor and language skills, cognitive impairment, spasticity, and focal seizures. Brain imaging shows periventricular white matter abnormalities and calcifications, large cisterna magna or Dandy-Walker malformation, and sometimes agenesis of the corpus callosum." [MIM:618476] synonym: "BANDDOS" EXACT [] synonym: "CSF1R-RELATED ADULT-ONSET LEUKOENCEPHALOPATHY" BROAD [] synonym: "CSF1R-RELATED CONDITION" BROAD [] xref: EFO:0010268 xref: MIM:618476 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9006667 ! Dysosteosclerosis created_by: slaulede creation_date: 2019-08-05T12:02:08Z [Term] id: DOID:9005823 name: Lymphedema, Cardiac Septal Defects, and Characteristic Facies alt_id: DOID:9002392 synonym: "Autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes" EXACT [] synonym: "Irons-Bhan Syndrome" EXACT [] synonym: "Irons-Bianchi syndrome" EXACT [] synonym: "Lymphedema, atrial septal defect, and characteristic facial changes" EXACT [] synonym: "lymphedema, atrial septal defect, and characteristic facies" EXACT [] xref: GARD:284 xref: MESH:C535539 xref: MESH:C567398 xref: MIM:601927 xref: MONDO:0011166 xref: ORDO:86915 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:225 ! syndrome is_a: DOID:4977 ! lymphedema is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005824 name: X-Linked Hydrocephalus, with Congenital Idiopathic Intestinal Pseudoobstruction alt_id: RDO:0013383 synonym: "HYDROCEPHALUS, X-LINKED, WITH HIRSCHSPRUNG DISEASE" RELATED [] xref: MESH:C564408 is_a: DOID:0080072 ! intestinal pseudo-obstruction is_a: DOID:9006382 ! X-Linked Hydrocephalus [Term] id: DOID:9005825 name: Nevi and Melanomas def: "A collective term for the various types of nevi and melanomas." [MESH:D018326] xref: MESH:D018326 xref: RDO:0006092 is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9005826 name: Congenital Cataracts, Facial Dysmorphism, and Neuropathy alt_id: MIM:604168 synonym: "CCFDN" EXACT [] synonym: "Congenital cataract with facial dysmorphism and neuropathy" EXACT [] xref: MESH:C565822 is_a: DOID:83 ! cataract is_a: DOID:863 ! nervous system disease is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005827 name: Spontaneous Fractures def: "Fractures occurring as a result of disease of a bone or from some undiscoverable cause, and not due to trauma. (Dorland, 27th ed)" [MESH:D005598] synonym: "Pathological Fracture" EXACT [] synonym: "Pathological Fractures" EXACT [] synonym: "Pathologic Fracture" EXACT [] synonym: "Pathologic Fractures" EXACT [] synonym: "Spontaneous Fracture" EXACT [] xref: MESH:D005598 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9005828 name: Sickle Cell Trait def: "The condition of being heterozygous for hemoglobin S." [MESH:D012805] synonym: "HEMOGLOBIN D (IBADAN)" RELATED [] synonym: "Sickle Cell Traits" EXACT [] xref: MESH:D012805 is_a: DOID:10923 ! sickle cell anemia [Term] id: DOID:9005829 name: Pseudopyogenic Granuloma def: "Solitary or multiple benign cutaneous nodules comprised of immature and mature vascular structures intermingled with endothelial cells and a varied infiltrate of eosinophils, histiocytes, lymphocytes, and mast cells. (MESH)" [] synonym: "angiolymphoid hyperplasia with eosinophilia" EXACT [] synonym: "pseudopyogenic granulomas" EXACT [] xref: MESH:D000796 is_a: DOID:37 ! skin disease is_a: DOID:9001371 ! Eosinophilia is_a: DOID:9002019 ! Granuloma created_by: mtutaj creation_date: 2021-02-19T16:00:08Z [Term] id: DOID:9005830 name: Hyaloideoretinal Degeneration of Wagner alt_id: MIM:143200 synonym: "Erosive vitreoretinopathy" EXACT [] synonym: "ERVR" EXACT [] synonym: "VCAN-RELATED CONDITION" EXACT [] synonym: "Vcan-Related Vitreoretinopathy" EXACT [] synonym: "Wagner Disease" EXACT [] synonym: "Wagner Syndrome" EXACT [] synonym: "Wagner Syndrome 1" EXACT [] synonym: "Wagner syndrome type 1" EXACT [] synonym: "Wagner vitreoretinal degeneration" EXACT [] synonym: "WAGNER VITREORETINOPATHY" EXACT [] synonym: "WGN1" EXACT [] synonym: "WGVRP" EXACT [] xref: MESH:C536075 xref: RDO:0001499 is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:9005831 name: Coronal Synostosis, Syndactyly and Jejunal Atresia xref: MESH:C536445 is_a: DOID:10486 ! intestinal atresia is_a: DOID:11971 ! synostosis [Term] id: DOID:9005832 name: Amyloid Plaques alt_id: MIM:269800 def: "Accumulations of extracellularly deposited AMYLOID FIBRILS within tissues." [MESH:D058225] synonym: "Amyloid Deposit" EXACT [] synonym: "amyloid deposits" EXACT [] synonym: "amyloid plaque" EXACT [] synonym: "Neuritic Plaque" EXACT [] synonym: "Neuritic Plaques" EXACT [] synonym: "Senile Plaque" EXACT [] synonym: "senile plaques" EXACT [] xref: MESH:D058225 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9005833 name: Aberrant Subclavian Artery synonym: "Aberrant left subclavian artery" EXACT [] synonym: "Aberrant right subclavian artery" EXACT [] xref: MESH:C535555 is_a: DOID:9000123 ! Deglutition Disorders is_a: DOID:9001665 ! Aneurysm is_a: DOID:9002682 ! Cardiovascular Abnormalities [Term] id: DOID:9005834 name: Ependymomas def: "Glioma derived from EPENDYMOGLIAL CELLS that tend to present as malignant intracranial tumors in children and as benign intraspinal neoplasms in adults. It may arise from any level of the ventricular system or central canal of the spinal cord. Intracranial ependymomas most frequently originate in the FOURTH VENTRICLE and histologically are densely cellular tumors which may contain ependymal tubules and perivascular pseudorosettes. Spinal ependymomas are usually benign papillary or myxopapillary tumors. (From DeVita et al., Principles and Practice of Oncology, 5th ed, p2018; Escourolle et al., Manual of Basic Neuropathology, 2nd ed, pp28-9)" [MESH:D004806] synonym: "ependymal neoplasm" EXACT [] synonym: "ependymal tumor" EXACT [] synonym: "ependymoma" EXACT [] xref: EFO:1000027 xref: EFO:1000028 xref: MESH:D004806 xref: NCI:C21951 is_a: DOID:3070 ! high grade glioma [Term] id: DOID:9005835 name: Congenital Abnormalities def: "Malformations of organs or body parts during development in utero." [MESH:D000013] synonym: "Birth Defect" EXACT [] synonym: "Birth Defects" EXACT [] synonym: "Congenital Abnormality" EXACT [] synonym: "Congenital Defect" EXACT [] synonym: "Congenital Defects" EXACT [] synonym: "Deformities" EXACT [] synonym: "Deformity" EXACT [] xref: EFO:0003915 xref: MESH:D000013 is_a: DOID:9004324 ! Congenital, Hereditary, and Neonatal Diseases and Abnormalities [Term] id: DOID:9005836 name: Central Areolar Choroidal Dystrophy 2 alt_id: MIM:613105 synonym: "CACD2" EXACT [] synonym: "progressive macular dystrophy" EXACT [] xref: MESH:C567750 is_a: DOID:9822 ! partial central choroid dystrophy [Term] id: DOID:9005837 name: Cholangiofibrosis def: "Any pathological condition where fibrous connective tissue invades the bile duct, usually as a consequence of inflammation or other injury." [] synonym: "biliary duct fibrosis" EXACT [] synonym: "biliary sclerosis" EXACT [] synonym: "fibrosis of bile duct" EXACT [] xref: RDO:9000784 is_a: DOID:4138 ! bile duct disease is_a: DOID:9000784 ! Fibrosis created_by: rgd creation_date: 2015-10-12T00:00:00Z [Term] id: DOID:9005838 name: Familial Thoracic Aortic Aneurysm 11 synonym: "AAT11" EXACT [] synonym: "AORTIC ANEURYSM, FAMILIAL THORACIC 11, SUSCEPTIBILITY TO" RELATED [] xref: MIM:617349 is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:9005839 name: Hypoplastic Left Heart Syndrome 2 synonym: "HLHS2" EXACT [] xref: MIM:614435 is_a: DOID:9955 ! hypoplastic left heart syndrome [Term] id: DOID:9005840 name: Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive synonym: "MGCPH" EXACT [] xref: MIM:248000 is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9005841 name: Epidermal Cyst alt_id: MIM:131600 def: "Intradermal or subcutaneous saclike structure, the wall of which is stratified epithelium containing keratohyalin granules." [MESH:D004814] synonym: "EIC" EXACT [] synonym: "epidermal cysts" EXACT [] synonym: "Epidermal inclusion cyst" EXACT [] synonym: "epidermoid cyst" EXACT [] synonym: "epidermoid cysts" EXACT [] synonym: "sebaceous cyst" EXACT [] synonym: "sebaceous cysts" EXACT [] xref: EFO:1000243 xref: MESH:D004814 is_a: DOID:9007583 ! Cysts [Term] id: DOID:9005842 name: Langer Mesomelic Dysplasia alt_id: MIM:249700 synonym: "Dyschondrosteosis Homozygous" EXACT [] synonym: "Langer Mesomelic Dwarfism" EXACT [] synonym: "Langer mesomelic dyspalsia" EXACT [] synonym: "LANGER MESOMELIC DYSPLASIA SYNDROME" EXACT [] synonym: "Langer type of mesomelic dwarfism" EXACT [] synonym: "LMD" EXACT [] synonym: "Mesomelic dwarfism Langer type" EXACT [] synonym: "Mesomelic dwarfism of the hypoplastic ulna, fibula, and mandible type" EXACT [] xref: MESH:C537267 xref: NCI:C126876 is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9009006 ! Mesomelic Dysplasia [Term] id: DOID:9005843 name: Hereditary Spastic Paralysis, Infantile Onset Ascending alt_id: MIM:607225 synonym: "Iahsp" EXACT [] synonym: "Spastic Paralysis, Infantile Onset Ascending" EXACT [] xref: MESH:C537217 is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:9005844 name: Tooth Fractures def: "Break or rupture of a tooth or tooth root." [MESH:D014082] synonym: "Tooth Fracture" EXACT [] xref: MESH:D014082 is_a: DOID:9003584 ! Tooth Injuries [Term] id: DOID:9005846 name: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28 def: "This disease is characterized by progressive muscle weakness affecting the proximal and axial muscles of the upper and lower limbs. Most patients have limited ambulation or become wheelchair-bound within a few decades, and respiratory insufficiency commonly occurs. Laboratory studies show increased serum creatine kinase, elevated fasting blood glucose levels, and normal cholesterol levels." [MIM:620375] synonym: "autosomal recessive limb-girdle muscular dystrophy-28" EXACT [] synonym: "LGMDR28" EXACT [] synonym: "MYOPATHY, LIMB-GIRDLE, ADULT-ONSET" EXACT [] synonym: "MYPLG" EXACT [] xref: MIM:620375 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: slaulede creation_date: 2023-07-18T12:46:21Z [Term] id: DOID:9005847 name: Passive-Aggressive Personality Disorder def: "A personality disorder characterized by an indirect resistance to demands for adequate social and occupational performance; anger and opposition to authority and the expectations of others that is expressed covertly by obstructionism, procrastination, stubbornness, dawdling, forgetfulness, and intentional inefficiency. (Dorland, 27th ed)" [MESH:D010324] synonym: "Negativistic Personality Disorder" EXACT [] synonym: "Negativistic Personality Disorders" EXACT [] synonym: "Passive-Aggressive Personalities" EXACT [] synonym: "Passive Aggressive Personality" EXACT [] synonym: "Passive Aggressive Personality Disorders" EXACT [] xref: MESH:D010324 is_a: DOID:1510 ! personality disorder [Term] id: DOID:9005848 name: WEISS-KRUSZKA SYNDROME def: "An autosomal dominant multiple congenital anomaly syndrome characterized by variable but usually mild global developmental delay and common craniofacial abnormalities, including ptosis, abnormal head shape, downslanting palpebral fissures, epicanthal folds, arched eyebrows, and short upturned nose." [MIM:618619] synonym: "METOPIC RIDGING-PTOSIS-FACIAL DYSMORPHISM SYNDROME" EXACT [] synonym: "WSKA" EXACT [] xref: EFO:0010635 xref: MIM:618619 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulede creation_date: 2019-11-14T15:37:36Z [Term] id: DOID:9005849 name: Radiation Sensitivity of Natural Killer Activity alt_id: MIM:312210 synonym: "X-Ray NK Sensitivity" EXACT [] xref: MESH:C564066 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2914 ! immune system disease [Term] id: DOID:9005850 name: Hereditary Optic Atrophies def: "Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER)." [MESH:D015418] synonym: "AUTOSOMAL RECESSIVE OPTIC ATROPHY" NARROW [] synonym: "Hereditary Optic Atrophy" EXACT [] synonym: "OPTIC ATROPHY, RECESSIVE" NARROW [] xref: MESH:D015418 xref: MONDO:0043878 xref: NCI:C34864 is_a: DOID:5723 ! optic atrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9005851 name: 46, XX Disorders of Sex Development def: "Congenital conditions in individuals with a female karyotype, in which the development of the gonadal or anatomical sex is atypical." [MESH:D058489] synonym: "46,XX DISORDER OF SEX DEVELOPMENT" EXACT [] synonym: "46,XX DSD" EXACT [] synonym: "female pseudohermaphroditism" EXACT [] synonym: "female pseudohermaphroditisms" EXACT [] xref: MESH:D058489 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:9005852 name: Spinocerebellar Ataxia with Dysmorphism alt_id: MIM:271270 xref: MESH:C564802 is_a: DOID:9001487 ! Facies is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:9005853 name: Pulmonary Surfactant Metabolism Dysfunction 4 synonym: "congenital pulmonary alveolar proteinosis 4" EXACT [] synonym: "CSF2RA Deficiency" EXACT [] synonym: "PAP due to CSF2RA Deficiency" EXACT [] synonym: "SMDP4" EXACT [] xref: MESH:C567461 xref: MIM:300770 xref: MONDO:0010424 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis [Term] id: DOID:9005854 name: Factor XIII, A Subunit, Deficiency Of def: "An autosomal recessive hematologic disorder characterized by increased bleeding and poor wound healing." [] synonym: "FACTOR XIII SUBUNIT A DEFICIENCY" EXACT [] xref: MESH:C567691 xref: MIM:613225 xref: MONDO:0013187 is_a: DOID:2211 ! factor XIII deficiency [Term] id: DOID:9005855 name: Microcephalic Primordial Dwarfism Toriello Type alt_id: MIM:251190 synonym: "Microcephalic primordial dwarfism and cataracts" EXACT [] xref: MESH:C537321 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:83 ! cataract is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9005856 name: Basaran Yilmaz Syndrome synonym: "Keratoderma, hypotrichosis and leukonychia totalis" EXACT [] xref: MESH:C537660 xref: MONDO:0021979 is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:4123 ! nail disease is_a: DOID:4535 ! hypotrichosis [Term] id: DOID:9005857 name: Prostate Cancer, Hereditary, 8 alt_id: MIM:602759 synonym: "HPC8" EXACT [] synonym: "PCAP" EXACT [] synonym: "predisposing for prostate cancer" BROAD [] xref: MESH:C566426 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9005858 name: Periodontal Atrophy def: "Degradation or wasting of the PERIODONTIUM tissues that may involve the gum (GINGIVA), the alveolar bone (ALVEOLAR PROCESS), the DENTAL CEMENTUM, or the PERIODONTAL LIGAMENT." [MESH:D055093] synonym: "Atrophy of Periodontium" EXACT [] synonym: "Gingivo-Osseous Atrophies" EXACT [] synonym: "Gingivo Osseous Atrophy" EXACT [] synonym: "Periodontal Atrophies" EXACT [] synonym: "Periodontium Atrophies" EXACT [] synonym: "Periodontium Atrophy" EXACT [] xref: MESH:D055093 is_a: DOID:3388 ! periodontal disease [Term] id: DOID:9005859 name: Reese Retinal Dysplasia alt_id: MIM:266400 xref: MESH:C564854 is_a: DOID:9006597 ! Retinal Dysplasia [Term] id: DOID:9005860 name: Hematologic Pregnancy Complications def: "The co-occurrence of pregnancy and a blood disease (HEMATOLOGIC DISEASES) which involves BLOOD CELLS or COAGULATION FACTORS. The hematologic disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS." [MESH:D011250] synonym: "Hematological Pregnancy Complication" EXACT [] synonym: "Hematological Pregnancy Complications" EXACT [] synonym: "Hematologic Pregnancy Complication" EXACT [] synonym: "Pregnancies, Hematologic Complications" EXACT [] xref: MESH:D011250 is_a: DOID:74 ! hematopoietic system disease is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9005861 name: Achard-Thiers Syndrome synonym: "Adenoma associated virilism of older women" EXACT [] synonym: "Bearded female with diabetes" EXACT [] synonym: "Diabetes in bearded women" EXACT [] synonym: "Diabetic-bearded woman syndrome" EXACT [] xref: MESH:C536013 is_a: DOID:225 ! syndrome is_a: DOID:9002661 ! Diabetes Complications is_a: DOID:9002762 ! Ovarian Neoplasms is_a: DOID:9005330 ! Virilism [Term] id: DOID:9005862 name: Isochromosomes def: "Metacentric chromosomes produced during MEIOSIS or MITOSIS when the CENTROMERE splits transversely instead of longitudinally. The chromosomes produced by this abnormal division are one chromosome having the two long arms of the original chromosome, but no short arms, and the other chromosome consisting of the two short arms and no long arms. Each of these isochromosomes constitutes a simultaneous duplication and deletion." [MESH:D018404] synonym: "Isochromosome" EXACT [] xref: MESH:D018404 xref: RDO:0007195 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9005863 name: Methylmalonic Aciduria and Homocystinuria, cblJ Type synonym: "MAHCJ" EXACT [] xref: MIM:614857 xref: NCI:C183526 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria [Term] id: DOID:9005864 name: Autosomal Dominant Intellectual Developmental Disorder 61 synonym: "autosomal dominant mental retardation 61" EXACT [] synonym: "intellectual developmental disorder 61" EXACT [] synonym: "MRD61" EXACT [] xref: MIM:618009 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2020-02-03T08:54:15Z [Term] id: DOID:9005865 name: Intervertebral Disc Disease, Type I synonym: "type I IVDD" EXACT [] xref: OMIA:000157 is_a: DOID:9000585 ! Intervertebral Disc Disease created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:9005866 name: Spinal Subdural Hematoma def: "Subdural hematoma of the SPINAL CANAL." [MESH:D046649] synonym: "spinal subdural hematomas" EXACT [] synonym: "traumatic spinal subdural hematoma" EXACT [] xref: EFO:1001847 xref: MESH:D046649 is_a: DOID:9001521 ! Subdural Hematoma [Term] id: DOID:9005867 name: X-Linked Intellectual Developmental Disorders def: "A class of genetic disorders resulting in INTELLECTUAL DISABILITY that is associated either with mutations of GENES located on the X CHROMOSOME or aberrations in the structure of the X chromosome (SEX CHROMOSOME ABERRATIONS)." [MESH:D038901] synonym: "X-Linked Intellectual Developmental Disorder" EXACT [] synonym: "X-Linked Mental Retardation" EXACT [] synonym: "X-Linked Mental Retardation Disorders" EXACT [] synonym: "X Linked Mental Retardation Syndromes" EXACT [] xref: MESH:D038901 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:9005868 name: Duplication 4p Syndrome synonym: "Chromosome 4, Partial Trisomy 4p" EXACT [] synonym: "Chromosome 4, Trisomy 4p" EXACT [] synonym: "Duplication 4p" EXACT [] xref: MESH:C537643 xref: RDO:0003519 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9005870 name: Nephrotic Syndrome Type 26 def: "An autosomal recessive renal disorder characterized by onset of proteinuria in the first months or years of life. Caused by homozygous or compound heterozygous mutation in the LAMA5 gene on chromosome 20q13." [MIM:620049] synonym: "LAMA5-RELATED CONDITION" BROAD [] synonym: "NPHS26" EXACT [] xref: MIM:620049 is_a: DOID:2590 ! familial nephrotic syndrome created_by: mtutaj creation_date: 2022-09-27T09:43:06Z [Term] id: DOID:9005871 name: Thrombocytopenia, Cyclic alt_id: MIM:188020 xref: MESH:C536899 is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9005872 name: Dystelephalangy alt_id: MIM:128000 synonym: "Kirner deformity" EXACT [] xref: MESH:C538000 is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9005873 name: Tongue Neoplasms alt_id: DOID:8649 def: "Tumors or cancer of the TONGUE." [] synonym: "tongue neoplasm" EXACT [] synonym: "tongue neoplasms" EXACT [] xref: EFO:0003871 xref: MESH:D014062 is_a: DOID:10944 ! tongue disease is_a: DOID:9007364 ! Mouth Neoplasms [Term] id: DOID:9005874 name: Coloboma of Macula and Skeletal Anomalies alt_id: MIM:216800 xref: MESH:C565686 is_a: DOID:0050581 ! brachydactyly is_a: DOID:12270 ! coloboma is_a: DOID:674 ! cleft palate [Term] id: DOID:9005875 name: Giant Platelet Syndrome with Thrombocytopenia xref: MESH:C564237 xref: RDO:0013265 is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9005876 name: Thrombocytopenic Purpura def: "Any form of purpura in which the PLATELET COUNT is decreased. Many forms are thought to be caused by immunological mechanisms." [MESH:D011696] synonym: "Thrombocytopenic Purpuras" EXACT [] synonym: "Thrombopenic Purpura" EXACT [] synonym: "Thrombopenic Purpuras" EXACT [] xref: MESH:D011696 is_a: DOID:2914 ! immune system disease is_a: DOID:3326 ! purpura is_a: DOID:9000326 ! Thrombotic Microangiopathies [Term] id: DOID:9005877 name: Corneal Dystrophy, Fuchs' Endothelial, 2 alt_id: MIM:610158 synonym: "FCD1 LOCUS" EXACT [] synonym: "FECD2" EXACT [] synonym: "Late-onset Fuchs' endothelial corneal dystrophy" EXACT [] xref: MESH:C535479 is_a: DOID:11555 ! Fuchs' endothelial dystrophy [Term] id: DOID:9005878 name: Tertiary Lymphoid Structures def: "Aggregates of immune cells formed near the sites of chronically inflamed, infected, or tumorous tissues." [MESH:D000072717] synonym: "Ectopic Lymph Node" EXACT [] synonym: "Ectopic Lymph Nodes" EXACT [] synonym: "Ectopic Lymphoid Follicle" EXACT [] synonym: "Ectopic Lymphoid Follicles" EXACT [] synonym: "Ectopic Lymphoid Formation" EXACT [] synonym: "Ectopic Lymphoid Formations" EXACT [] synonym: "Ectopic Lymphoid-Like Structure" EXACT [] synonym: "Ectopic Lymphoid Like Structures" EXACT [] synonym: "Ectopic Lymphoid Organ" EXACT [] synonym: "Ectopic Lymphoid Organs" EXACT [] synonym: "Ectopic Lymphoid Tissue" EXACT [] synonym: "Ectopic Lymphoid Tissues" EXACT [] synonym: "Tertiary Lymphoid Structure" EXACT [] xref: MESH:D000072717 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9005879 name: Epidermolysis Bullosa Dystrophica, Autosomal Recessive, Localisata Variant xref: MESH:C567121 is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:9005880 name: Biologically Inactive Thyrotropin alt_id: RDO:0013617 xref: MESH:C564765 is_a: DOID:0050328 ! congenital hypothyroidism [Term] id: DOID:9005881 name: Chilblain Lupus 1 alt_id: MIM:610448 synonym: "CHBL1" EXACT [] synonym: "chilbain lupus 1" RELATED [] synonym: "Chilblain lupus" EXACT [] xref: MESH:C535924 is_a: DOID:0060386 ! Chilblain lupus is_a: DOID:9004248 ! Chilblains [Term] id: DOID:9005882 name: Spine Osteoarthritis def: "A degenerative joint disease involving the SPINE. It is characterized by progressive deterioration of the spinal articular cartilage (CARTILAGE, ARTICULAR), usually with hardening of the subchondral bone and outgrowth of bone spurs (OSTEOPHYTE)." [MESH:D055013] synonym: "Lumbar Osteoarthritis" EXACT [] synonym: "Spinal Osteoarthritis" EXACT [] xref: EFO:1000787 xref: MESH:D055013 is_a: DOID:8398 ! osteoarthritis is_a: DOID:9000380 ! Spondylarthritis [Term] id: DOID:9005883 name: Pleural Effusion def: "Presence of fluid in the pleural cavity resulting from excessive transudation or exudation from the pleural surfaces. It is a sign of disease and not a diagnosis in itself." [MESH:D010996] synonym: "Pleural Effusions" EXACT [] xref: EFO:0009637 xref: MESH:D010996 xref: RDO:0006358 is_a: DOID:1532 ! pleural disease [Term] id: DOID:9005884 name: Potassium Aggravated Myotonia alt_id: MIM:608390 synonym: "Myotonia congenita, acetazolamide-responsive" EXACT [] synonym: "Myotonia congenita, atypical" EXACT [] synonym: "MYOTONIA CONGENITA, ATYPICAL, ACETAZOLAMIDE-RESPONSIVE" EXACT [] synonym: "MYOTONIA CONGENITA, ATYPICAL LARYNGOSPASM, SEVERE NEONATAL EPISODIC" NARROW [] synonym: "myotonia fluctuans" EXACT [] synonym: "myotonia permanens" EXACT [] synonym: "SNEL" NARROW [] synonym: "SODIUM CHANNEL MUSCLE DISEASE" EXACT [] synonym: "Sodium Channel Myotonia" EXACT [] xref: MESH:C538353 is_a: DOID:2106 ! myotonia congenita [Term] id: DOID:9005885 name: Ataxia with Myoclonic Epilepsy and Presenile Dementia alt_id: MIM:208700 xref: MESH:C565933 is_a: DOID:1307 ! dementia is_a: DOID:9004866 ! Ataxia is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:9005886 name: DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE def: "This disease is a severe progressive skeletal dysplasia with features of a metabolic disorder. Patients exhibit marked short stature, coarse facies with broad nose and prominent lips, and a distended abdomen, and experience severe physical disability." [MIM:619345] synonym: "Ain-Naz type of dysostosis multiplex" EXACT [] synonym: "DMAN" EXACT [] xref: MIM:619345 is_a: DOID:1934 ! dysostosis is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9001487 ! Facies created_by: slaulede creation_date: 2021-08-12T15:49:29Z [Term] id: DOID:9005887 name: Hunter-McAlpine Syndrome alt_id: MIM:601379 synonym: "Hunter-McAlpine craniosynostosis" EXACT [] synonym: "Hunter-McAlpine craniosynostosis syndrome" EXACT [] xref: MESH:C536072 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9005888 name: Unilateral Radioulnar Synostosis with Developmental Retardation and Hypotonia alt_id: MIM:266255 xref: MESH:C564856 is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9827 ! radioulnar synostosis [Term] id: DOID:9005889 name: Suppuration def: "A pathologic process consisting in the formation of pus." [MESH:D013492] synonym: "Pus" EXACT [] xref: MESH:D013492 is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9005890 name: Disproportionate Tall Stature def: "A tall and slim body build with increased arm span to height ratio (>1.05) and a reduced upper-to-lower segment ratio (<0.85), i.e., unusually long arms and legs. The extremities as well as the hands and feet are unusually slim." [HP:0001519] xref: HP:0001519 is_a: DOID:0080006 ! bone development disease created_by: slaulede creation_date: 2020-03-13T11:28:26Z [Term] id: DOID:9005891 name: Combined Pituitary Hormone Deficiency 6 synonym: "COMBINED PITUITARY HORMONE DEFICIENCY, DOMINANT" EXACT [] synonym: "CPHD6" EXACT [] xref: MIM:613986 xref: MONDO:0013518 is_a: DOID:9410 ! panhypopituitarism [Term] id: DOID:9005892 name: Gaucher-like Disease synonym: "Pseudo Gaucher disease" EXACT [] xref: MESH:C537675 xref: RDO:0003555 is_a: DOID:1926 ! Gaucher's disease [Term] id: DOID:9005893 name: chemotherapy-induced oral mucositis def: "This disease involves inflammation and ulceration of the oral mucosa as a result of chemotherapy treatment." [EFO:0006313] synonym: "Drug-induced mucositis" BROAD [] xref: EFO:0006313 is_a: DOID:0080178 ! mucositis created_by: slaulede creation_date: 2023-02-02T14:11:06Z [Term] id: DOID:9005894 name: Childhood-Onset Remitting Leukodystrophy def: "A very rare autosomal dominant disorder characterized in some patients by onset of a metabolic crisis at the end of the first year of life that leads to widespread demyelination and leukodystrophy on brain imaging and a dramatic loss of developmental abilities. Caused by heterozygous mutation in the FBP2 gene on chromosome 9q22." [MIM:619864] synonym: "CORLK" EXACT [] xref: MIM:619864 is_a: DOID:10579 ! leukodystrophy created_by: mtutaj creation_date: 2022-05-11T16:32:54Z [Term] id: DOID:9005895 name: Congenital Cataracts, Hearing Loss, and Neurodegeneration synonym: "ACETYL-CoA TRANSPORTER DEFICIENCY" EXACT [] synonym: "CCHLND" EXACT [] synonym: "HPBDS" EXACT [] synonym: "Huppke-Brendel syndrome" EXACT [] xref: MIM:614482 is_a: DOID:83 ! cataract is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9005896 name: Tollner Horst Manzke Syndrome synonym: "Heptacarpo-octatarso-dactyly combined with multiple malformation" EXACT [] xref: MESH:C536964 xref: RDO:0002700 is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005897 name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES def: "A disease characterized by global developmental delay apparent from infancy or early childhood, resulting in mildly delayed walking, variably impaired intellectual development, and poor or absent speech." [MIM:618443] synonym: "MAPK8IP3-RELATED DISORDER" EXACT [] synonym: "NEDBA" EXACT [] xref: MIM:618443 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2019-09-13T13:50:23Z [Term] id: DOID:9005898 name: Chromosome 2, Trisomy 2pter p24 synonym: "Duplication 2pter p24" EXACT [] synonym: "Trisomy 2pter p24" EXACT [] xref: MESH:C535366 xref: RDO:0000448 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9005900 name: Seckel syndrome 11 def: "A disease characterized by severe primary microcephaly, short stature, developmental delay, impaired intellectual development, facial dysmorphisms, and digital abnormalities. Caused by homozygous or compound heterozygous mutation in the CEP295 gene on chromosome 11q21." [MIM:620767] synonym: "SCKL11" EXACT [] xref: MIM:620767 is_a: DOID:0050569 ! Seckel syndrome created_by: tutajm creation_date: 2024-04-22T17:10:40Z [Term] id: DOID:9005901 name: Nystagmus 5, Infantile Periodic Alternating synonym: "Nystagmus, Infantile Periodic Alternating, X-Linked" EXACT [] xref: MESH:C564478 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:9005902 name: Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus alt_id: MIM:202900 synonym: "Stimmler Syndrome" EXACT [] xref: MESH:C565968 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:9007661 ! Dwarfism is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9005903 name: Missed Abortions alt_id: RDO:0004692 def: "The retention in the UTERUS of a dead FETUS two months or more after its DEATH." [MESH:D000030] synonym: "missed abortion" EXACT [] xref: MESH:D000030 is_a: DOID:9003281 ! Spontaneous Abortions [Term] id: DOID:9005904 name: Glucocorticoid Deficiency 4 synonym: "GCCD4" EXACT [] synonym: "glucocorticoid deficiency 4 with mineralocorticoid deficiency" NARROW [] synonym: "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" EXACT [] synonym: "NNT-related condition" BROAD [] xref: MIM:614736 xref: MONDO:0013874 is_a: DOID:0080620 ! familial glucocorticoid deficiency is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:9005905 name: Type 2 Diabetes Mellitus 5 synonym: "NIDDM5" EXACT [] synonym: "noninsulin-dependent diabetes mellitus 5" EXACT [] synonym: "T2D5" EXACT [] synonym: "type 2 diabetes 5" EXACT [] xref: MIM:616087 is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:9005906 name: Carcinoid Heart Disease def: "Cardiac manifestation of gastrointestinal CARCINOID TUMOR that metastasizes to the liver. Substances secreted by the tumor cells, including SEROTONIN, promote fibrous plaque formation in ENDOCARDIUM and its underlying layers. These deposits cause distortion of the TRICUSPID VALVE and the PULMONARY VALVE eventually leading to STENOSIS and valve regurgitation." [MESH:D002275] synonym: "Carcinoid Heart Diseases" EXACT [] xref: EFO:1001769 xref: MESH:D002275 xref: RDO:0005111 is_a: DOID:114 ! heart disease is_a: DOID:9005598 ! Malignant Carcinoid Syndrome [Term] id: DOID:9005908 name: Retrograde Degeneration def: "Pathologic changes that occur in the axon and cell body of a neuron proximal to an axonal lesion. The process is characterized by central chromatolysis which features flattening and displacement of the nucleus, loss of Nissl bodies, and cellular edema. Central chromatolysis primarily occurs in lower motor neurons." [MESH:D012183] synonym: "Axonal Reaction" EXACT [] synonym: "Axonal Reactions" EXACT [] synonym: "Axon Reaction" EXACT [] synonym: "Axon Reactions" EXACT [] synonym: "Nissl Degeneration" EXACT [] synonym: "Retrograde Degenerations" EXACT [] synonym: "Transneuronal Retrograde Degeneration" EXACT [] synonym: "Transneuronal Retrograde Degenerations" EXACT [] synonym: "Trans Synaptic Degeneration" EXACT [] synonym: "Trans-Synaptic Degenerations" EXACT [] xref: MESH:D012183 xref: RDO:0006484 is_a: DOID:9002955 ! Nerve Degeneration [Term] id: DOID:9005909 name: Keratoconus 2 alt_id: MIM:608932 synonym: "KTCN2" EXACT [] xref: MESH:C563827 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9005911 name: Hyperapobetalipoproteinemia synonym: "Hyperapobetalipoproteinemia, susceptibility to" RELATED [] xref: MIM:170998 xref: RDO:9000794 is_a: DOID:9005519 ! Hyperlipoproteinemia Type II created_by: rgd creation_date: 2015-07-16T00:00:00Z [Term] id: DOID:9005912 name: Congenital Nonspherocytic Hemolytic Anemia 4 synonym: "CNSHA4" EXACT [] synonym: "DISORDER OF GLYCOLYSIS" EXACT [] synonym: "GPI-RELATED CONDITION" EXACT [] synonym: "HEMOLYTIC ANEMIA, NONSPHEROCYTIC, AND NEUROLOGIC DEFICITS, DUE TO GLUCOSE PHOSPHATE ISOMERASE DEFICIENCY" NARROW [] synonym: "Nonspherocytic Hemolytic Anemia due to Glucose Phosphate Isomerase Deficiency" EXACT [] xref: MIM:613470 xref: MONDO:0013275 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9005913 name: Keratoconus and Congenital Hip Dysplasia alt_id: MIM:244510 xref: MESH:C565456 is_a: DOID:10126 ! keratoconus is_a: DOID:9005560 ! Congenital Hip Dislocation [Term] id: DOID:9005914 name: Cubitus Valgus with Impaired Intellectual Development and Unusual Facies alt_id: MIM:300471 synonym: "cubitus valgus with mental retardation and unusual facies" EXACT [] xref: MESH:C564510 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9004402 ! Congenital Upper Extremity Deformities [Term] id: DOID:9005916 name: Radial Drusen, Autosomal Dominant xref: MESH:C565088 is_a: DOID:2569 ! retinal drusen is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9005917 name: Neuhauser Eichner Opitz Syndrome alt_id: MIM:130950 synonym: "Encephalopathy, recurrent, of childhood" EXACT [] xref: MESH:C536407 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:225 ! syndrome is_a: DOID:679 ! basal ganglia disease [Term] id: DOID:9005918 name: Fountain Syndrome alt_id: MIM:229120 synonym: "Mental retardation-deafnes, skeletal abnormalities, coarse face with full lips" EXACT [] synonym: "Mental Retardation, Sensorineural Deafness, Skeletal Abnormalities, And Coarse Face With Full Lips" EXACT [] xref: MESH:C537270 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008681 ! Deafness is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005919 name: African Swine Fever def: "A sometimes fatal ASFIVIRUS infection of pigs, characterized by fever, cough, diarrhea, hemorrhagic lymph nodes, and edema of the gallbladder. It is transmitted between domestic swine by direct contact, ingestion of infected meat, or fomites, or mechanically by biting flies or soft ticks (genus Ornithodoros)." [MESH:D000357] synonym: "Wart Hog Disease" EXACT [] synonym: "Wart-Hog Diseases" EXACT [] xref: MESH:D000357 xref: RDO:0004773 is_a: DOID:9000251 ! DNA Virus Infections is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9005921 name: Charcot-Marie-Tooth Disease, Dominant Intermediate 2 xref: MESH:C535400 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type [Term] id: DOID:9005922 name: Myopathy with Storage of Glycoproteins and Glycosaminoglycans alt_id: MIM:160570 xref: MESH:C563542 is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9005923 name: CEREBRAL-CEREBELLAR-COLOBOMA SYNDROME, X-LINKED xref: MIM:300864 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:12270 ! coloboma created_by: slaulede creation_date: 2018-10-10T15:52:34Z [Term] id: DOID:9005924 name: Cat Diseases def: "Diseases of the domestic cat (Felis catus or F. domesticus). This term does not include diseases of the so-called big cats such as CHEETAHS; LIONS; tigers, cougars, panthers, leopards, and other Felidae for which the heading CARNIVORA is used." [MESH:D002371] synonym: "Cat Disease" EXACT [] synonym: "Feline Disease" EXACT [] synonym: "Feline Diseases" EXACT [] xref: MESH:D002371 xref: RDO:0005143 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9005925 name: Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency alt_id: MIM:202010 synonym: "11-Beta-hydroxylase deficiency" EXACT [] synonym: "11B Hydroxylase Deficiency" EXACT [] synonym: "Adrenal hyperplasia 4" EXACT [] synonym: "Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency" EXACT [] synonym: "Adrenal Hyperplasia, Hypertensive Form" EXACT [] synonym: "Adrenal Hyperplasia IV" EXACT [] synonym: "Congenital adrenal hyperplasia type 4" EXACT [] synonym: "Hypertensive form of adrenal hyperplasia" EXACT [] synonym: "P450C11B1 deficiency" EXACT [] synonym: "Steroid 11 Beta Hydroxylase Deficiency" EXACT [] xref: MESH:C535978 xref: RDO:0001372 is_a: DOID:0050811 ! congenital adrenal hyperplasia [Term] id: DOID:9005926 name: Leigh Syndrome, X-Linked xref: MESH:C564114 xref: RDO:0013183 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9005927 name: Chromosome 3, Trisomy 3p25 synonym: "Duplication 3p25" EXACT [] synonym: "Trisomy 3p25" EXACT [] xref: MESH:C536812 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9005928 name: Speech Disturbance - Use of Faulty Phrasing and Unrelated Words xref: MESH:C538446 xref: RDO:0004414 is_a: DOID:92 ! speech disorder [Term] id: DOID:9005929 name: De Hauwere Leroy Adriaenssens syndrome synonym: "Iris dysplasia, orbital hypertelorism, and psychomotor retardation" EXACT [] xref: MESH:C535991 is_a: DOID:225 ! syndrome is_a: DOID:240 ! iris disease is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9005930 name: Endotoxemia def: "A condition characterized by the presence of ENDOTOXINS in the blood. On lysis, the outer cell wall of gram-negative bacteria enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators." [MESH:D019446] synonym: "Endotoxemias" EXACT [] xref: MESH:D019446 is_a: DOID:9008067 ! Toxemia relationship: part_of DOID:9005036 ! Bacteremia [Term] id: DOID:9005931 name: Craniofacial Anomalies, Empty Sella Turcica, Corneal Endothelial Changes, and Abnormal Retinal and Auditory Bipolar Cells xref: MESH:C565731 is_a: DOID:3642 ! empty sella syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9005932 name: Urinary Bladder Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the urinary bladder, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "bladder reperfusion injury" RELATED [] is_a: DOID:365 ! bladder disease is_a: DOID:9004009 ! Reperfusion Injury created_by: rgd creation_date: 2016-01-19T00:00:00Z [Term] id: DOID:9005933 name: Lazy Leukocyte Syndrome alt_id: MIM:150550 def: "An autosomal recessive immunologic disorder with variable manifestations. Common features include early-onset recurrent respiratory infections, stomatitis, and cutaneous infections." [] synonym: "periodic fever, immunodeficiency, and thrombocytopenia syndrome" EXACT [] synonym: "PFITS" EXACT [] synonym: "WDR1 DEFICIENCY" EXACT [] synonym: "WDR1-RELATED CONDITION" EXACT [] xref: MESH:C562721 is_a: DOID:1227 ! neutropenia is_a: DOID:225 ! syndrome is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9005934 name: Trisomy 22 Mosaicism Syndrome synonym: "Chromosome 22 trisomy mosaic" EXACT [] synonym: "Trisomy 22 mosaic" EXACT [] synonym: "Uniparental disomy of 22" EXACT [] xref: MESH:C536796 is_a: DOID:9003960 ! Trisomy is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9005936 name: Gastro-Enteropancreatic Neuroendocrine Tumor synonym: "Gastroenteropancreatic neuroendocrine tumor" EXACT [] xref: MESH:C535650 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:1793 ! pancreatic cancer is_a: DOID:9000217 ! Stomach Neoplasms is_a: DOID:9002245 ! Intestinal Neoplasms [Term] id: DOID:9005937 name: Deafness-Hypogonadism Syndrome alt_id: MIM:304350 xref: MESH:C564435 is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9003113 ! Hearing Loss, Mixed Conductive-Sensorineural [Term] id: DOID:9005938 name: Mesoaxial Synostotic Syndactyly with Phalangeal Reduction alt_id: MIM:609432 synonym: "MSSD" EXACT [] synonym: "Syndactyly, Malik-Percin Type" EXACT [] synonym: "SYNDACTYLY TYPE 9" EXACT [] synonym: "syndactyly, type 9" EXACT [] synonym: "syndactyly, type IX" EXACT [] xref: MESH:C563721 is_a: DOID:11193 ! syndactyly [Term] id: DOID:9005939 name: Pinheiro Freire-Maia Miranda Syndrome synonym: "Trichodermodysplasia with dental alterations" EXACT [] xref: MESH:C537402 is_a: DOID:13714 ! anodontia is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9005940 name: Autosomal Dominant Diffuse Lewy Body Disease xref: MESH:C538637 xref: RDO:0004558 is_a: DOID:12217 ! Lewy body dementia [Term] id: DOID:9005941 name: Rhinosinusitis def: "Inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES." [] is_a: DOID:0050127 ! sinusitis is_a: DOID:4483 ! rhinitis [Term] id: DOID:9005942 name: Laurence Prosser Rocker Syndrome xref: MESH:C537882 xref: RDO:0003793 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1148 ! polydactyly is_a: DOID:1657 ! ventricular septal defect is_a: DOID:225 ! syndrome [Term] id: DOID:9005943 name: Weinstein Kliman Scully Syndrome synonym: "Cardiomyopathy, hypogonadism and metabolic anomalies" EXACT [] xref: MESH:C536688 xref: RDO:0002336 is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9005165 ! Deaf-Blind Disorders [Term] id: DOID:9005944 name: Slit Ventricle Syndrome def: "An intermittent and self-limiting headache disorder in individuals with CEREBROSPINAL FLUID SHUNTS emplaced for the treatment of HYDROCEPHALUS. The symptoms of headache, vomiting, and cranial neuropathies are associated with intermittent obstruction of the shunt." [MESH:D056124] synonym: "Slit Ventricle Syndromes" EXACT [] xref: MESH:D056124 is_a: DOID:225 ! syndrome is_a: DOID:9000053 ! Headache is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9005945 name: Dermoids of Cornea alt_id: MIM:304730 synonym: "Bilateral corneal dermoids" EXACT [] synonym: "CND" EXACT [] synonym: "Corneal dermoids and short stature" EXACT [] synonym: "Guizar-Vazquez Luengas-Munoz syndrome" EXACT [] xref: MESH:C535376 is_a: DOID:10124 ! corneal disease is_a: DOID:9000660 ! Choristoma is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9005946 name: Mononeuropathy of the Median Nerve, Mild synonym: "CARPAL TUNNEL SYNDROME, SUSCEPTIBILITY TO" EXACT [] synonym: "MNMN" EXACT [] synonym: "SH3TC2-RELATED CONDITION" BROAD [] synonym: "SH3TC2-RELATED DISORDER" BROAD [] xref: MIM:613353 xref: RDO:0009823 is_a: DOID:1188 ! mononeuropathy [Term] id: DOID:9005948 name: 2,4-Dienoyl-CoA Reductase Deficiency alt_id: MIM:616034 synonym: "DECRD" EXACT [] xref: MESH:C565624 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9005949 name: Saal Bulas Syndrome synonym: "Ectrodactyly, diaphragmatic hernia, congenital heart defect, and agenesis of the corpus callosum" EXACT [] xref: MESH:C537193 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:3827 ! congenital diaphragmatic hernia is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9005950 name: Orthostatic Hypotension alt_id: RDO:0004625 def: "A significant drop in BLOOD PRESSURE after assuming a standing position. Orthostatic hypotension is a finding, and defined as a 20-mm Hg decrease in systolic pressure or a 10-mm Hg decrease in diastolic pressure 3 minutes after the person has risen from supine to standing. Symptoms generally include DIZZINESS, blurred vision, and SYNCOPE." [MESH:D007024] synonym: "postural hypotension" EXACT [] xref: EFO:0005252 xref: MESH:D007024 xref: MIM:PS223360 is_a: DOID:9004453 ! Orthostatic Intolerance is_a: DOID:9006024 ! Hypotension [Term] id: DOID:9005951 name: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY, SEIZURES, AND BRAIN ABNORMALITIES def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech." [MIM:620001] synonym: "NEDSSBA" EXACT [] xref: MIM:620001 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulederkind creation_date: 2024-03-26T11:01:07Z [Term] id: DOID:9005953 name: Hypocapnia def: "Clinical manifestation consisting of a deficiency of carbon dioxide in arterial blood." [MESH:D016857] synonym: "Hypocapnias" EXACT [] xref: MESH:D016857 xref: RDO:0007000 is_a: DOID:9000575 ! Respiratory Signs and Symptoms [Term] id: DOID:9005954 name: Mondini Dysplasia def: "A congenital inner ear malformation that features hearing loss and a cochlea that contains a normal basal turn and cystic apex, a minimally dilated vestibule, and an enlarged vestibular aqueduct. This term has also been used to describe multiple variants of cochlear hypoplasia." [] synonym: "Mondini deformity" EXACT [] synonym: "Mondini malformation" EXACT [] xref: RDO:9000073 is_a: DOID:5463 ! cochlear disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9005955 name: Triploidy def: "Polyploidy with three sets of chromosomes. Triploidy in humans are 69XXX, 69XXY, and 69XYY. It is associated with HOLOPROSENCEPHALY; ABNORMALITIES, MULTIPLE; PARTIAL HYDATIDIFORM MOLE; and MISCARRAGES." [MESH:D057885] synonym: "Triploid" EXACT [] synonym: "Triploidies" EXACT [] synonym: "Triploids" EXACT [] xref: MESH:D057885 is_a: DOID:9005779 ! Polyploidy [Term] id: DOID:9005956 name: Pneumovirinae infections def: "Infections with viruses of the subfamily Pneumovirinae. This includes two genera: PNEUMOVIRUS and METAPNEUMOVIRUS." [MESH:D018099] xref: MESH:D018099 is_a: DOID:9007244 ! Paramyxoviridae Infections created_by: slaulede creation_date: 2020-12-21T15:41:58Z [Term] id: DOID:9005957 name: Pinealoma def: "Neoplasms which originate from pineal parenchymal cells that tend to enlarge the gland and be locally invasive. The two major forms are pineocytoma and the more malignant pineoblastoma. Pineocytomas have moderate cellularity and tend to form rosette patterns. Pineoblastomas are highly cellular tumors containing small, poorly differentiated cells. These tumors occasionally seed the neuroaxis or cause obstructive HYDROCEPHALUS or Parinaud's syndrome. GERMINOMA; CARCINOMA, EMBRYONAL; GLIOMA; and other neoplasms may arise in the pineal region with germinoma being the most common pineal region tumor. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, p2064; Adams et al., Principles of Neurology, 6th ed, p670)" [MESH:D010871] synonym: "Mixed Pineocytoma Pineoblastoma" EXACT [] synonym: "Mixed Pineocytoma-Pineoblastomas" EXACT [] synonym: "Pineal Gland Tumor" EXACT [] synonym: "Pineal Gland Tumors" EXACT [] synonym: "Pineal Neoplasm" EXACT [] synonym: "Pineal Neoplasms" EXACT [] synonym: "Pinealocytoma" EXACT [] synonym: "Pinealocytomas" EXACT [] synonym: "Pinealomas" EXACT [] synonym: "Pineal Parenchymal Tumor" EXACT [] synonym: "Pineal Parenchymal Tumors" EXACT [] synonym: "Pineal Tumor" EXACT [] synonym: "Pineal Tumors" EXACT [] synonym: "pineocytoma" EXACT [] synonym: "pineocytomas" EXACT [] synonym: "tumor of the pineal region" EXACT [] xref: EFO:1000476 is_a: DOID:1931 ! hypothalamic disease is_a: DOID:9007502 ! Brain Neoplasms is_a: DOID:9007803 ! Endocrine Gland Neoplasms [Term] id: DOID:9005958 name: Neurofibromatosis Type 3, Mixed Central and Peripheral alt_id: MIM:162260 synonym: "Neurofibromas, Palmar Cutaneous" EXACT [] synonym: "Neurofibromatosis Type 3, Riccardi type" EXACT [] synonym: "Neurofibromatosis Type III, Mixed Central and Peripheral" EXACT [] synonym: "Neurofibromatosis Type III, of Riccardi" EXACT [] synonym: "Neurofibromatosis Type III, Riccardi Type" EXACT [] xref: MESH:C537389 is_a: DOID:8712 ! neurofibromatosis [Term] id: DOID:9005959 name: Gonadal Tissue Neoplasms alt_id: DOID:9008100 def: "Neoplasms composed of tissues of the OVARY or the TESTIS, not neoplasms located in the ovaries or testes. Gonadal tissues include GERM CELLS, cells from the sex cord, and gonadal stromal cells." [MESH:D018309] synonym: "germ cell tumor" NARROW [] synonym: "Gonadal Tissue Neoplasm" EXACT [] synonym: "Male Germ Cell Tumor" NARROW [] xref: EFO:0000514 xref: EFO:1000953 xref: MESH:C564777 xref: MESH:D018309 is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9005960 name: Primary Ciliary Dyskinesia 51 def: "A male infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), resulting in severely reduced progressive motility. Caused by homozygous or compound heterozygous mutation in the BRWD1 gene on chromosome 21q22." [MIM:620438] synonym: "CILD51" EXACT [] xref: MIM:620438 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: mtutaj creation_date: 2023-07-07T12:40:16Z [Term] id: DOID:9005961 name: Familial Hypercholanemia 1 synonym: "FHCA1" EXACT [] synonym: "TJP2-RELATED CONDITION" BROAD [] xref: MIM:607748 is_a: DOID:9007118 ! Familial Hypercholanemia created_by: mtutaj creation_date: 2021-04-13T11:51:41Z [Term] id: DOID:9005962 name: Multiple Pterygium Syndrome, Lethal Type alt_id: RDO:0008388 synonym: "CHRNG-RELATED DISORDER" BROAD [] synonym: "lethal multiple pterygium syndrome" EXACT [] synonym: "LMPS" EXACT [] xref: MIM:253290 is_a: DOID:0080110 ! contractures, pterygia, and spondylocarpotarsal fusion syndrome is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:9001984 ! Fetal Diseases [Term] id: DOID:9005963 name: Distal Arthrogryposis, with Impaired Proprioception and Touch def: "An autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, and progressive skeletal contractures. (OMIM)" [] synonym: "DAIPT" EXACT [] xref: MIM:617146 is_a: DOID:0050646 ! distal arthrogryposis is_a: DOID:9008625 ! Somatosensory Disorders [Term] id: DOID:9005964 name: Pigmentary Dilution alt_id: MIM:126070 synonym: "oculocutaneous albinoidism, autosomal dominant" EXACT [] xref: MESH:C566872 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:9005965 name: Muscular Atrophy, Ataxia, Retinitis Pigmentosa, and Diabetes Mellitus alt_id: MIM:158500 xref: MESH:C562774 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:767 ! muscular atrophy is_a: DOID:9004866 ! Ataxia is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9005966 name: Staphylococcal Skin Infections def: "Infections to the skin caused by bacteria of the genus STAPHYLOCOCCUS." [MESH:D013207] synonym: "Skin Staphylococcal Disease" EXACT [] synonym: "Skin Staphylococcal Diseases" EXACT [] synonym: "Skin Staphylococcal Infection" EXACT [] xref: EFO:1001849 xref: MESH:D013207 xref: RDO:0005639 is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9008885 ! Staphylococcal Infections [Term] id: DOID:9005968 name: Neuralgia def: "Intense or aching pain that occurs along the course or distribution of a peripheral or cranial nerve." [MESH:D009437] synonym: "Atypical Neuralgia" EXACT [] synonym: "Atypical Neuralgias" EXACT [] synonym: "Iliohypogastric Nerve Neuralgia" EXACT [] synonym: "Iliohypogastric Nerve Neuralgias" EXACT [] synonym: "Ilioinguinal Neuralgia" EXACT [] synonym: "Ilioinguinal Neuralgias" EXACT [] synonym: "Nerve Pain" EXACT [] synonym: "Nerve Pains" EXACT [] synonym: "Neuralgias" EXACT [] synonym: "Neurodynia" EXACT [] synonym: "Neurodynias" EXACT [] synonym: "Neuropathic Pain" EXACT [] synonym: "Neuropathic Pains" EXACT [] synonym: "Paroxysmal Nerve Pain" EXACT [] synonym: "Paroxysmal Nerve Pains" EXACT [] synonym: "Perineal Neuralgia" EXACT [] synonym: "Perineal Neuralgias" EXACT [] synonym: "Stump Neuralgia" EXACT [] synonym: "Stump Neuralgias" EXACT [] synonym: "Supraorbital Neuralgia" EXACT [] synonym: "Supraorbital Neuralgias" EXACT [] synonym: "Vidian Neuralgia" EXACT [] synonym: "Vidian Neuralgias" EXACT [] xref: EFO:0005762 xref: EFO:0009430 xref: MESH:D009437 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9000641 ! Pain [Term] id: DOID:9005969 name: Refractory Anemia with Excess of Blasts def: "Chronic refractory anemia with granulocytopenia, and/or thrombocytopenia. Myeloblasts and progranulocytes constitute 5 to 40 percent of the nucleated marrow cells." [MESH:D000754] synonym: "RAEB" EXACT [] synonym: "RAEM" EXACT [] synonym: "Smoldering Leukemia" EXACT [] synonym: "Smoldering Leukemias" EXACT [] synonym: "Smouldering Leukemia" EXACT [] xref: EFO:0003811 xref: MESH:D000754 is_a: DOID:9000300 ! Refractory Anemia [Term] id: DOID:9005970 name: Permanent Neonatal Diabetes Mellitus, with Cerebellar Agenesis alt_id: MIM:609069 synonym: "PACA" EXACT [] synonym: "pancreatic and cerebellar agenesis" EXACT [] xref: MESH:C563796 is_a: DOID:0060639 ! permanent neonatal diabetes mellitus is_a: DOID:9001487 ! Facies is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9005973 name: Lelis Syndrome alt_id: MIM:608290 synonym: "hypohidrotic ectodermal dysplasia with acanthosis nigricans" EXACT [] xref: MESH:C564261 is_a: DOID:11155 ! hypohidrosis is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:3138 ! acanthosis nigricans [Term] id: DOID:9005975 name: Acromelic Frontonasal Dysplasia xref: MESH:C535657 is_a: DOID:2449 ! acromegaly [Term] id: DOID:9005976 name: Pulmonary Surfactant Metabolism Dysfunction 2 alt_id: MIM:610913 synonym: "congenital pulmonary alveolar proteinosis 2" EXACT [] synonym: "Desquamative Interstitial Pneumonitis Due To Surfactant Protein C Deficiency" EXACT [] synonym: "Interstitial Lung Disease Due To Surfactant Protein C Deficiency" EXACT [] synonym: "SMDP2" EXACT [] xref: MESH:C567048 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis [Term] id: DOID:9005977 name: eosinophilic leukemia def: "A leukemia characterized by a clonal proliferation of eosinophilic precursors resulting in increased numbers of eosinophils in the blood, marrow and peripheral tissues. (DO)" [] is_a: DOID:1240 ! leukemia created_by: slaulede creation_date: 2020-01-20T15:43:14Z [Term] id: DOID:9005978 name: Cerebellar Ataxia and Ectodermal Dysplasia alt_id: MIM:212835 synonym: "cerebellar ataxia, ectodermal dysplasia" EXACT [] xref: MESH:C535350 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9005979 name: Global Developmental Delay, Progressive Ataxia, and Elevated Glutamine def: "Patients with global developmental delay, progressive ataxia, and elevated glutamine (GDPAG) present in early childhood with delay of both gross and fine motor skills and delayed speech. Ataxia develops by mid- to late childhood, necessitating use of a walker or wheelchair. Plasma glutamine is persistently elevated by a factor of 2.5 despite normal plasma ammonia levels. Residual glutaminase (GLS) activity can be detected in fibroblasts and lymphocytes. One or both alleles of the GLS gene carry an expanded GCA trinucleotide repeat in the 5-prime untranslated region (UTR); the repeat expansion may be found in compound heterozygosity with another GLS mutation. (OMIM)" [] synonym: "GLUTAMINASE DEFICIENCY WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND PROGRESSIVE ATAXIA" EXACT [] xref: EFO:0010257 xref: MIM:618412 is_a: DOID:9004866 ! Ataxia is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9252 ! amino acid metabolic disorder created_by: gthayman creation_date: 2019-05-24T16:39:26Z [Term] id: DOID:9005980 name: Ramon Syndrome alt_id: MIM:266270 synonym: "cherubism, gingival fibromatosis, epilepsy, mental deficiency, hypertrichosis, and stunted growth" EXACT [] synonym: "gingival fibromatosis combined with cherubism" EXACT [] xref: MESH:C535285 is_a: DOID:0060466 ! gingival fibromatosis is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:1856 ! cherubism is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9005981 name: Midline Defects, X-Linked xref: MESH:C564054 xref: RDO:0013147 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080074 ! neural tube defect [Term] id: DOID:9005982 name: Pseudoainhum xref: MESH:C535821 xref: RDO:0001139 is_a: DOID:11329 ! ainhum is_a: DOID:9001627 ! Pathologic Constriction [Term] id: DOID:9005983 name: Cerebroretinal Microangiopathy with Calcifications and Cysts 2 def: "An autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. (OMIM)" [] synonym: "CRMCC2" EXACT [] xref: MIM:617341 is_a: DOID:9003025 ! Cerebroretinal Microangiopathy with Calcifications and Cysts created_by: rgd creation_date: 2017-06-13T00:00:00Z [Term] id: DOID:9005984 name: Multisystem Autoimmune Disease, Infantile-Onset, 2 synonym: "ADMIO2" EXACT [] xref: MIM:617006 is_a: DOID:9002419 ! Multisystem Autoimmune Disease, Infantile-Onset [Term] id: DOID:9005985 name: Rubinstein Taybi like Syndrome xref: MESH:C535877 xref: RDO:0001230 is_a: DOID:0002116 ! pterygium is_a: DOID:1933 ! Rubinstein-Taybi syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9005986 name: Familial Behcet-Like Autoinflammatory Syndrome xref: MIM:PS616744 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9005372 ! Inflammation created_by: mtutaj creation_date: 2023-07-07T12:50:56Z [Term] id: DOID:9005988 name: Multicystic Dysplastic Kidney def: "A nongenetic defect due to malformation of the KIDNEY which appears as a bunch of grapes with multiple renal cysts but lacking the normal renal bean shape, and the collection drainage system. This condition can be detected in-utero with ULTRASONOGRAPHY." [MESH:D021782] synonym: "Bilateral Multicystic Dysplastic Kidneys" EXACT [] synonym: "Multicystic Dysplastic Kidneys" EXACT [] synonym: "Multicystic Kidney" EXACT [] synonym: "Multicystic Kidney Dysplasia" EXACT [] synonym: "Multicystic Kidney Dysplasias" EXACT [] synonym: "Multicystic Kidneys" EXACT [] synonym: "Multicystic Renal Dysplasia" EXACT [] synonym: "Multicystic Renal Dysplasias" EXACT [] synonym: "Unilateral Multicystic Dysplastic Kidney" EXACT [] xref: MESH:D021782 xref: MONDO:0015988 is_a: DOID:2975 ! cystic kidney disease is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9005989 name: False Aneurysm def: "Not an aneurysm but a well-defined collection of blood and CONNECTIVE TISSUE outside the wall of a blood vessel or the heart. It is the containment of a ruptured blood vessel or heart, such as sealing a rupture of the left ventricle. False aneurysm is formed by organized THROMBUS and HEMATOMA in surrounding tissue." [MESH:D017541] synonym: "Aneurysm, False" EXACT [] synonym: "False Aneurysms" EXACT [] synonym: "Pseudoaneurysm" EXACT [] synonym: "Pseudoaneurysms" EXACT [] xref: EFO:1001265 xref: MESH:D017541 is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:9005990 name: Peroxisome Biogenesis Disorder, Complementation Group 1 xref: MESH:C566568 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9005991 name: Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome alt_id: MIM:601794 xref: MESH:C566623 is_a: DOID:1059 ! intellectual disability is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:9970 ! obesity [Term] id: DOID:9005992 name: Rothmund-Thomson Syndrome Type 2 synonym: "Rothmund-Thomson syndrome 2" EXACT [] synonym: "RTS2" EXACT [] xref: MIM:268400 is_a: DOID:2732 ! Rothmund-Thomson syndrome created_by: mtutaj creation_date: 2019-10-18T10:48:41Z [Term] id: DOID:9005993 name: Tonoki Syndrome alt_id: MIM:603396 synonym: "Short stature, brachydactyly, nail dysplasia, and mental retardation" EXACT [] xref: MESH:C536967 is_a: DOID:0050581 ! brachydactyly is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9005994 name: Immotile Cilia Syndrome, due to Excessively Long Cilia alt_id: MIM:242680 synonym: "Ciliary Dyskinesia With Excessively Long Cilia" EXACT [] xref: MESH:C536287 is_a: DOID:0050127 ! sinusitis is_a: DOID:4483 ! rhinitis is_a: DOID:6132 ! bronchitis is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:9005995 name: Developmental and Epileptic Encephalopathy 115 def: "This disease is an autosomal recessive disorder characterized by severe developmental delay and epileptic encephalopathy, massive reduction of white matter, hypoplasia/aplasia of the corpus callosum, neurodevelopmental arrest, and early death." [MIM:620783] synonym: "DEE115" EXACT [] synonym: "SNF8-ASSOCIATED DISEASE" BROAD [] xref: MIM:620783 is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: slaulederkind creation_date: 2024-05-10T17:51:53Z [Term] id: DOID:9005996 name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 synonym: "FTDALS5" EXACT [] xref: MIM:619141 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis created_by: mtutaj creation_date: 2021-01-07T09:49:10Z [Term] id: DOID:9005997 name: Uncombable Hair Syndrome synonym: "Cheveux incoiffables" EXACT [] synonym: "Pili trianguli et Canaliculi" EXACT [] synonym: "UHS" EXACT [] synonym: "Unmanageable hair syndrome" EXACT [] xref: MESH:C536939 is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease [Term] id: DOID:9005999 name: Hyperostosis Frontalis Interna alt_id: DOID:9001859 alt_id: MESH:C538586 alt_id: MIM:144800 def: "Thickening of the inner table of the frontal bone, which may be associated with hypertrichosis and obesity. It most commonly affects women near menopause." [MESH:D006957] synonym: "Hyperostosis Frontalis Interna, Obesity, Shortness and Cognitive Impairment" EXACT [] synonym: "Leontiasis Ossium" EXACT [] synonym: "Morgagni Stewart Morel Syndrome" EXACT [] xref: GARD:8593 xref: MESH:D006957 xref: MONDO:0007766 xref: ORDO:77296 is_a: DOID:205 ! hyperostosis is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9006001 name: Mental Retardation and Distinctive Facial Features with or without Cardiac Defects def: "This disease is an autosomal dominant, complex syndromic neurodevelopmental disorder characterized by delayed psychomotor development, poor speech acquisition, distinctive dysmorphic facial features, including frontal bossing, upslanting palpebral fissures, depressed nasal bridge with bulbous tip, and macrostomia." [MIM:616789] synonym: "Asadollahi-Rauch syndrome" EXACT [] synonym: "CARDIAC ANOMALIES - DEVELOPMENTAL DELAY - FACIAL DYSMORPHISM SYNDROME" EXACT [] synonym: "IMPAIRED INTELLECTUAL DEVELOPMENT AND DISTINCTIVE FACIAL FEATURES WITH CARDIAC DEFECTS" NARROW [] synonym: "impaired intellectual development and distinctive facial features with or without cardiac defects" EXACT [] synonym: "MED13L-RELATED CONDITION" BROAD [] synonym: "MED13L-related disorder" BROAD [] synonym: "MRFACD" EXACT [] xref: MIM:616789 is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:9001487 ! Facies is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006002 name: Stewart Treves Syndrome synonym: "Angiosarcoma associated with chronic lymphedema" EXACT [] synonym: "lymphangiosarcoma following mastectomy" EXACT [] synonym: "lymphangiosarcoma of Stewart and Treves" EXACT [] synonym: "postmastectomy extremity angiosarcoma" EXACT [] xref: MESH:C537491 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:225 ! syndrome is_a: DOID:2689 ! lymphangiosarcoma [Term] id: DOID:9006005 name: Chromosome 7q11.23 Deletion Syndrome, Distal, 1.2-MB synonym: "DISTAL CHROMOSOME 7q11.23 DELETION SYNDROME" EXACT [] xref: MIM:613729 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:8927 ! learning disability is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006006 name: Spondylocostal Dysostosis, Autosomal Recessive alt_id: OMIA:001944 synonym: "COSTOVERTEBRAL DYSPLASIA" EXACT [] synonym: "VERTEBRAL ANOMALIES" EXACT [] xref: MESH:C535781 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:0050737 ! autosomal recessive disease [Term] id: DOID:9006008 name: Closed Head Injuries def: "Traumatic injuries to the cranium where the integrity of the skull is not compromised and no bone fragments or other objects penetrate the skull and DURA MATER. This frequently results in mechanical injury being transmitted to intracranial structures which may produce TRAUMATIC BRAIN INJURIES, hemorrhage, or CRANIAL NERVE INJURIES. (From Rowland, Merritt's Textbook of Neurology, 9th ed, p417)" [MESH:D016489] synonym: "Blunt Head Injuries" EXACT [] synonym: "Blunt Head Injury" EXACT [] synonym: "Closed Head Injury" EXACT [] synonym: "Closed Head Trauma" EXACT [] synonym: "Closed Head Traumas" EXACT [] synonym: "Nonpenetrating Head Injuries" EXACT [] synonym: "Nonpenetrating Head Injury" EXACT [] xref: MESH:D016489 is_a: DOID:9006659 ! Nonpenetrating Wounds is_a: DOID:9007621 ! Craniocerebral Trauma [Term] id: DOID:9006009 name: Neonatal Hypoglycemia, Simulating Foetopathia Diabetica synonym: "Neonatal Hypoglycemia" EXACT [] xref: MESH:C565484 is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:9006010 name: Gingival Hyperplasia def: "Non-inflammatory enlargement of the gingivae produced by factors other than local irritation. It is characteristically due to an increase in the number of cells. (From Jablonski's Dictionary of Dentistry, 1992, p400)" [MESH:D005885] synonym: "Gingival Hyperplasias" EXACT [] xref: MESH:D005885 is_a: DOID:3086 ! gingival overgrowth [Term] id: DOID:9006012 name: Microcephaly with Spastic Quadriplegia synonym: "Recessive microcephaly with spastic quadriplegia" EXACT [] xref: MESH:C537546 xref: RDO:0003405 is_a: DOID:10907 ! microcephaly is_a: DOID:12835 ! quadriplegia [Term] id: DOID:9006013 name: Hematoma def: "A collection of blood outside the BLOOD VESSELS. Hematoma can be localized in an organ, space, or tissue." [MESH:D006406] synonym: "Hematomas" EXACT [] xref: EFO:0010680 xref: MESH:D006406 is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9006014 name: Peritoneal Adhesions def: "Pathological processes consisting of the union of the opposing surfaces of a wound or irritated areas in the peritoneum." [] synonym: "peritoneal adhesion" EXACT [] xref: RDO:9001183 is_a: DOID:9008113 ! Tissue Adhesions created_by: rgd creation_date: 2016-06-03T00:00:00Z [Term] id: DOID:9006015 name: Posterior Lumbosacral Vertebral Fusion with Blepharoptosis alt_id: MIM:192800 synonym: "Congenital ptosis and posterior fusion of lumbosacral vertebrae" EXACT [] synonym: "Familial posterior lumbosacral vertebral fusion and eyelid ptosis" EXACT [] synonym: "Posterior Lumbosacral Vertebral Fusion, Blepharoptosis" EXACT [] xref: MESH:C536344 is_a: DOID:0060260 ! ptosis is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9006016 name: SEIZURES, EARLY-ONSET, WITH NEURODEGENERATION AND BRAIN CALCIFICATIONS def: "An autosomal recessive encephalopathy characterized by onset of refractory seizures in the first year of life. Affected individuals show significant and progressive developmental regression associated with seizure onset. Features include hypotonia, peripheral spasticity, poor eye contact, and absent speech. Brain imaging shows cerebral atrophy, loss of white matter, and punctate calcification." [MIM:618875] synonym: "early-onset seizures with neurodegeneration and brain calcifications" EXACT [] synonym: "SENEBAC" EXACT [] xref: MIM:618875 xref: MONDO:0030033 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:1826 ! epilepsy created_by: slaulede creation_date: 2020-08-17T17:48:15Z [Term] id: DOID:9006017 name: Skin/Hair/Eye Pigmentation, Variation In, 5 alt_id: MIM:227240 synonym: "SHEP5" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 5, Black-Nonblack Hair" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 5, Dark-Fair Skin" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 5, Dark-Light Eyes" EXACT [] xref: MESH:C567119 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9006018 name: Gollop Coates Syndrome synonym: "Bifurcation of distal humerus with oligoectro-syndactyly" EXACT [] xref: MESH:C537283 xref: RDO:0003098 is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome [Term] id: DOID:9006019 name: Frias Syndrome alt_id: MIM:609640 synonym: "CHROMOSOME 14q22 DELETION SYNDROME" EXACT [] synonym: "Growth Deficiency, Facial Anomalies, And Brachydactyly" EXACT [] xref: MESH:C535639 is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9006020 name: Pyknoachondrogenesis alt_id: MIM:265880 xref: MESH:C536251 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:9006021 name: Immunodeficiency 107 def: "An autosomal dominant immunologic disorder characterized most often by the development of invasive and severe life-threatening infections with S. aureus affecting the skin and/or lungs. Conferred by heterozygous mutation in the OTULIN gene on chromosome 5p15." [MIM:619986] synonym: "IMD107" EXACT [] synonym: "Immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection" EXACT [] xref: MIM:619986 xref: MONDO:0031030 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9008885 ! Staphylococcal Infections created_by: mtutaj creation_date: 2022-08-15T10:07:41Z [Term] id: DOID:9006022 name: Gingival Fibromatosis with Distinctive Facies alt_id: MIM:228560 xref: MESH:C565567 is_a: DOID:0060466 ! gingival fibromatosis is_a: DOID:9001487 ! Facies [Term] id: DOID:9006024 name: Hypotension def: "Abnormally low BLOOD PRESSURE that can result in inadequate blood flow to the brain and other vital organs. Common symptom is DIZZINESS but greater negative impacts on the body occur when there is prolonged depravation of oxygen and nutrients." [MESH:D007022] synonym: "Low Blood Pressure" EXACT [] synonym: "neurally mediated hypotension" NARROW [] synonym: "Vascular Hypotension" EXACT [] xref: EFO:0005251 xref: EFO:0005254 xref: MESH:D007022 is_a: DOID:0050828 ! artery disease [Term] id: DOID:9006025 name: Diaminopentanuria alt_id: MIM:222350 synonym: "Cystine-Lysinuria" EXACT [] xref: MESH:C565630 is_a: DOID:9004866 ! Ataxia is_a: DOID:9007428 ! Muscle Spasticity is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9006026 name: Jejunal Atresia with Renal Adysplasia alt_id: MIM:602551 alt_id: RDO:0003430 xref: MESH:C537567 is_a: DOID:10486 ! intestinal atresia is_a: DOID:557 ! kidney disease [Term] id: DOID:9006027 name: Pfeiffer Rockelein Syndrome synonym: "Asymmetrical coronal synostosis, cutaneous syndactyly of fingers and toes, and jejunal atresia" EXACT [] xref: MESH:C537890 is_a: DOID:10486 ! intestinal atresia is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome [Term] id: DOID:9006028 name: Mammary-Digital-Nail Syndrome synonym: "MDNS" EXACT [] xref: MIM:613689 is_a: DOID:225 ! syndrome is_a: DOID:3463 ! breast disease is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9006029 name: Short Stature, Impaired Intellectual Development, Callosal Agenesis, Heminasal Hypoplasia, Microphthalmia, and Atypical Clefting alt_id: MIM:605856 synonym: "short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting" EXACT [] xref: MESH:C566989 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9002049 ! Anophthalmia is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007661 ! Dwarfism is_a: DOID:9296 ! cleft lip [Term] id: DOID:9006030 name: Infant Death def: "The death of a live-born INFANT within its first year of life." [MESH:D066088] synonym: "DEATH IN INFANCY" EXACT [] synonym: "Infant Deaths" EXACT [] xref: MESH:D066088 xref: RDO:0015956 is_a: DOID:9000543 ! Death [Term] id: DOID:9006031 name: Abdominal Fibromatosis def: "A relatively large mass of unusually firm scarlike connective tissue resulting from active participation of fibroblasts, occurring most frequently in the abdominal muscles of women who have borne children. The fibroblasts infiltrate surrounding muscle and fascia. (Stedman, 25th ed)" [MESH:D018221] synonym: "Abdominal Fibromatoses" EXACT [] xref: EFO:1001325 xref: MESH:D018221 is_a: DOID:0050871 ! fibroma [Term] id: DOID:9006032 name: NEUROOCULAR SYNDROME 2, PAROXYSMAL TYPE def: "This disease is characterized by daily paroxysmal spells characterized by eye deviation or nystagmus with abnormal head posturing apparent from birth or early infancy. The episodes tend to be triggered after sleeping, and most patients show improvement of the ocular symptoms over time. Affected individuals also have hypotonia, mild developmental delay, dysarthria, and gait ataxia; most have mildly impaired intellectual development." [MIM:168885] synonym: "Benign Childhood Paroxysmal Tonic Upgaze with Ataxia" EXACT [] synonym: "NOC2" EXACT [] synonym: "PAROXYSMAL TONIC UPGAZE, BENIGN CHILDHOOD, WITH ATAXIA" EXACT [] xref: MESH:C566817 xref: MIM:168885 xref: MONDO:008206 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9006033 name: Severe Microcephaly with Skeletal Anomalies including Posterior Rib-Gap Defects alt_id: MIM:603394 xref: MESH:C566377 is_a: DOID:10907 ! microcephaly is_a: DOID:9001487 ! Facies is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9006034 name: Pseudohypoaldosteronism, Type IIC alt_id: MIM:614492 alt_id: RDO:0013211 synonym: "PHA2C" EXACT [] synonym: "pseudohypoaldosteronism type 2C" EXACT [] xref: MESH:C564162 is_a: DOID:4479 ! pseudohypoaldosteronism [Term] id: DOID:9006035 name: Factor VIII Deficiency, Acquired alt_id: RDO:0001962 synonym: "factor 8 deficiency, acquired" EXACT [] synonym: "hemophilia A, acquired" EXACT [] xref: MESH:C536392 is_a: DOID:12134 ! factor VIII deficiency [Term] id: DOID:9006036 name: Auriculocondylar Syndrome 2 synonym: "ARCND2" EXACT [] synonym: "ARCND2A" NARROW [] synonym: "ARCND2B" NARROW [] synonym: "auriculocondylar syndrome 2A" NARROW [] synonym: "auriculocondylar syndrome 2B" NARROW [] xref: MIM:614669 xref: MIM:620458 is_a: DOID:9000208 ! Auriculocondylar Syndrome [Term] id: DOID:9006037 name: Ectrodactyly-Polydactyly alt_id: MIM:225290 xref: MESH:C565601 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9006038 name: Amebic Dysentery def: "DYSENTERY caused by intestinal amebic infection, chiefly with ENTAMOEBA HISTOLYTICA. This condition may be associated with amebic infection of the LIVER and other distant sites." [MESH:D004404] synonym: "Amebic Colitides" EXACT [] synonym: "Amebic Colitis" EXACT [] synonym: "Amebic Dysenteries" EXACT [] synonym: "Amoebic Colitides" EXACT [] synonym: "Amoebic Colitis" EXACT [] synonym: "Amoebic Dysenteries" EXACT [] synonym: "Amoebic Dysentery" EXACT [] synonym: "Intestinal Amebiases" EXACT [] synonym: "Intestinal Amebiasis" EXACT [] synonym: "Intestinal Amoebiases" EXACT [] synonym: "Intestinal Amoebiasis" EXACT [] synonym: "Intestinal Entamoebiases" EXACT [] synonym: "Intestinal Entamoebiasis" EXACT [] xref: MESH:D004404 is_a: DOID:12384 ! dysentery is_a: DOID:9002892 ! Parasitic Intestinal Diseases is_a: DOID:9181 ! amebiasis [Term] id: DOID:9006039 name: Ageusia def: "Complete or severe loss of the subjective sense of taste, frequently accompanied by OLFACTION DISORDERS." [MESH:D000370] synonym: "Hypogeusia" EXACT [] synonym: "Hypogeusias" EXACT [] synonym: "Hysterical Ageusia" EXACT [] synonym: "Hysterical Ageusias" EXACT [] synonym: "Taste Blindness" EXACT [] xref: EFO:1001758 xref: MESH:D000370 is_a: DOID:9001661 ! Taste Disorders [Term] id: DOID:9006040 name: Sinonasal Neoplasms def: "A benign or malignant tumor of the nasal cavity and paranasal sinuses." [] is_a: DOID:9000118 ! Paranasal Sinus Neoplasms is_a: DOID:9007971 ! Nose Neoplasms [Term] id: DOID:9006041 name: Osteoarthritis, Hip def: "Noninflammatory degenerative disease of the hip joint which usually appears in late middle or old age. It is characterized by growth or maturational disturbances in the femoral neck and head, as well as acetabular dysplasia. A dominant symptom is pain on weight-bearing or motion." [MESH:D015207] synonym: "Coxarthroses" EXACT [] synonym: "Coxarthrosis" EXACT [] synonym: "Hip Osteoarthritides" EXACT [] synonym: "Osteoarthritis Of Hip" EXACT [] synonym: "OSTEOARTHRITIS OF HIP, FEMALE-SPECIFIC, SUSCEPTIBILITY TO" NARROW [] synonym: "Osteoarthritis Of Hips" EXACT [] xref: EFO:1000786 xref: MESH:D015207 xref: RDO:0006850 is_a: DOID:8398 ! osteoarthritis [Term] id: DOID:9006043 name: Erythrocyte Amp Deaminase Deficiency alt_id: MIM:612874 xref: MESH:C567878 xref: RDO:0015768 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9006044 name: Microvillus Inclusion Disease 2 def: "A congenital enteropathy characterized by neonatal-onset intractable secretory diarrhea, resulting in severe dehydration and metabolic acidosis. Caused by homozygous mutation in the STX3 gene on chromosome 11q12. (OMIM)" [] synonym: "DIAR12" EXACT [] synonym: "diarrhea 12 with microvillus atrophy" EXACT [] synonym: "MVID2" EXACT [] xref: MIM:619445 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0060774 ! congenital diarrhea is_a: DOID:9002984 ! Malabsorption Syndromes created_by: mtutaj creation_date: 2021-07-27T13:36:31Z [Term] id: DOID:9006045 name: Dissecting Aneurysm alt_id: RDO:0004842 def: "An aneurysm caused by a tear in the TUNICA INTIMA of a blood vessel leading to interstitial HEMORRHAGE, and splitting (dissecting) of the vessel wall, often involving the AORTA. Dissection between the tunica intima and TUNICA MEDIA causes luminal occlusion. Dissection at the media, or between the media and the outer ADVENTITIA causes aneurismal dilation." [MESH:D000784] synonym: "Blood Vessel Dissection" EXACT [] synonym: "Dissecting Aneurysms" EXACT [] xref: MESH:D000784 is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:9006046 name: Voice Disorders def: "Pathological processes that affect voice production, usually involving VOCAL CORDS and the LARYNGEAL MUCOSA. Voice disorders can be caused by organic (anatomical), or functional (emotional or psychological) factors leading to DYSPHONIA; APHONIA; and defects in VOICE QUALITY, loudness, and pitch." [MESH:D014832] synonym: "Neurologic Voice Disorder" EXACT [] synonym: "Neurologic Voice Disorders" EXACT [] synonym: "Voice Disorder" EXACT [] synonym: "Voice Disturbance" EXACT [] synonym: "Voice Disturbances" EXACT [] synonym: "Voice Fatigue" EXACT [] synonym: "Voice Fatigues" EXACT [] xref: EFO:0009692 xref: MESH:D014832 is_a: DOID:786 ! laryngeal disease is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9006047 name: Breast Cancer 3 alt_id: RDO:0014003 synonym: "BRCA3" EXACT [] synonym: "BRCAX" EXACT [] synonym: "BRCAX breast cancer" EXACT [] xref: EFO:0009443 xref: MESH:C565336 is_a: DOID:1612 ! breast cancer [Term] id: DOID:9006048 name: Major Affective Disorder 7 alt_id: MIM:612371 synonym: "MAFD7" EXACT [] xref: MESH:C567529 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:9006049 name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES def: "This disease is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood." [MIM:620292] synonym: "NEDLBAS" EXACT [] xref: MIM:620292 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2023-05-04T09:46:32Z [Term] id: DOID:9006050 name: undifferentiated sarcoma def: "This a heterogeneous group of uncommon soft tissue sarcomas that do not show an identifiable line of differentiation using currently available technologies. This is a diagnosis of exclusion and includes undifferentiated pleomorphic sarcoma (also known as malignant fibrous histiocytoma), undifferentiated spindle cell sarcoma, undifferentiated round cell sarcoma, and undifferentiated epithelioid sarcoma." [NCI:C121793] synonym: "Unclassified Soft Tissue Sarcoma" EXACT [] synonym: "Undifferentiated/Unclassified Sarcoma" EXACT [] synonym: "Undifferentiated/Unclassified Soft Tissue Sarcoma" EXACT [] synonym: "Undifferentiated Soft Tissue Sarcoma" EXACT [] synonym: "USTS" EXACT [] xref: EFO:0000730 is_a: DOID:1115 ! sarcoma created_by: slaulede creation_date: 2023-01-24T15:04:30Z [Term] id: DOID:9006051 name: Alzheimer's Disease, Familial, 3, with Spastic Paraparesis synonym: "Alzheimer disease 3, with spastic paraparesis" EXACT [] synonym: "Alzheimer disease, familial, 3, with spastic paraparesis" EXACT [] is_a: DOID:0110042 ! Alzheimer's disease 3 created_by: rgd creation_date: 2016-05-10T00:00:00Z [Term] id: DOID:9006052 name: Tooth Discoloration def: "Any change in the hue, color, or translucency of a tooth due to any cause. Restorative filling materials, drugs (both topical and systemic), pulpal necrosis, or hemorrhage may be responsible. (Jablonski, Dictionary of Dentistry, 1992, p253)" [MESH:D014075] synonym: "Tooth Discolorations" EXACT [] xref: MESH:D014075 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9006053 name: Vasa Previa def: "Pregnancy complication where fetal blood vessels, normally inside the umbilical cord, are left unprotected and cross FETAL MEMBRANES. It is associated with antepartum bleeding and FETAL DEATH and STILLBIRTH due to exsanguination." [MESH:D055949] synonym: "Vasa Praevia" EXACT [] synonym: "Vasa Praevias" EXACT [] synonym: "Vasa Previas" EXACT [] xref: MESH:D055949 is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:9006054 name: Multiple Epiphyseal Dysplasia with Severe Proximal Femoral Dysplasia alt_id: MIM:609324 xref: MESH:C563736 is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:9006055 name: Metaphyseal Chondrodysplasia, Kaitila Type alt_id: MIM:250230 xref: MESH:C565400 is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia [Term] id: DOID:9006057 name: Congenital Tracheobronchial Stenosis alt_id: MIM:603569 xref: MESH:C566362 is_a: DOID:1176 ! bronchial disease is_a: DOID:3227 ! tracheal stenosis is_a: DOID:9001627 ! Pathologic Constriction [Term] id: DOID:9006058 name: Invasive Fungal Infections def: "Mycoses which manifest as infections of deep tissue or blood." [MESH:D000072742] synonym: "Invasive Fungal Infection" EXACT [] synonym: "Invasive Mycose" EXACT [] synonym: "Invasive Mycoses" EXACT [] xref: MESH:D000072742 xref: RDO:0016126 is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:9006059 name: EL HAYEK-CHAHROUR NEURODEVELOPMENTAL SYNDROME def: "This is a disease characterized by absent speech, impaired intellectual development, and autism." [MIM:620820] synonym: "El Hayek-Chahrour neurodevelopmental disorder" EXACT [] synonym: "NEDEHC" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH, IMPAIRED INTELLECTUAL DEVELOPMENT, AND AUTISM" EXACT [] xref: MIM:620820 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2024-06-11T10:49:58Z [Term] id: DOID:9006061 name: Cerebral Amyloidosis with Spongiform Encephalopathy synonym: "cerebellar ataxia, progressive dementia, and amyloid deposits in CNS" EXACT [] synonym: "prion dementia" EXACT [] xref: MESH:C535800 is_a: DOID:1307 ! dementia is_a: DOID:649 ! prion disease [Term] id: DOID:9006062 name: Nervous System Trauma def: "Traumatic injuries to the brain, cranial nerves, spinal cord, autonomic nervous system, or neuromuscular system, including iatrogenic injuries induced by surgical procedures." [MESH:D020196] synonym: "axonotmeses" EXACT [] synonym: "Axonotmesis" EXACT [] synonym: "Craniocervical Injuries" EXACT [] synonym: "Craniocervical Injury" EXACT [] synonym: "Nervous System Injuries" EXACT [] synonym: "Nervous System Injury" EXACT [] synonym: "Nervous System Traumas" EXACT [] synonym: "Neurotmeses" EXACT [] synonym: "neurotmesis" EXACT [] xref: EFO:0009490 xref: MESH:D020196 is_a: DOID:863 ! nervous system disease is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9006063 name: Zimmermann-Laband Syndrome 3 synonym: "ZLS3" EXACT [] xref: MIM:618658 is_a: DOID:9004260 ! Zimmerman Laband Syndrome created_by: mtutaj creation_date: 2019-11-12T11:39:16Z [Term] id: DOID:9006064 name: Pouchitis def: "Acute INFLAMMATION in the INTESTINAL MUCOSA of the continent ileal reservoir (or pouch) in patients who have undergone ILEOSTOMY and restorative proctocolectomy (PROCTOCOLECTOMY, RESTORATIVE)." [MESH:D019449] synonym: "Pouch Ileitis" EXACT [] xref: EFO:0003921 xref: MESH:D019449 is_a: DOID:0060189 ! ileitis [Term] id: DOID:9006065 name: Arthralgia def: "Pain in the joint." [MESH:D018771] synonym: "Arthralgias" EXACT [] synonym: "Joint Pain" EXACT [] synonym: "Joint Pains" EXACT [] synonym: "Polyarthralgia" EXACT [] synonym: "Polyarthralgias" EXACT [] xref: MESH:D018771 is_a: DOID:381 ! arthropathy is_a: DOID:9000641 ! Pain [Term] id: DOID:9006066 name: Familial Cutaneous Collagenoma alt_id: MIM:115250 xref: MESH:C562925 is_a: DOID:854 ! collagen disease is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9006067 name: Friedreich Ataxia, So-Called, with Optic Atrophy and Sensorineural Deafness alt_id: MIM:136600 xref: MESH:C564999 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:12705 ! Friedreich ataxia is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:9006068 name: Emanuel Syndrome alt_id: MIM:609029 synonym: "22) SYNDROME" EXACT [] synonym: "Der(22) Syndrome Due To 3:1 Meiotic Disjunction Events" EXACT [] synonym: "Supernumary Der(22) Syndrome" EXACT [] synonym: "Supernumary Der(22)T(11;22) Syndrome" EXACT [] synonym: "Supernumary Derivative 22 Chromosome Syndrome" EXACT [] synonym: "Supernumerary der(22) syndrome" EXACT [] synonym: "SUPERNUMERARY DER(22)t(11" EXACT [] synonym: "Supernumerary der(22)t(11;22) syndrome" EXACT [] xref: MESH:C535733 xref: RDO:0001016 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:9006069 name: vaginal melanoma def: "This is a primary malignant neoplasm of the vagina composed of malignant melanocytes." [NCI:C27394] synonym: "melanoma of vagina" EXACT [] synonym: "vagina melanoma" EXACT [] xref: EFO:1000619 is_a: DOID:0050929 ! mucosal melanoma created_by: slaulede creation_date: 2022-09-15T13:27:39Z [Term] id: DOID:9006070 name: Lethal Congenital Erythroderma alt_id: MIM:227090 xref: MESH:C535513 is_a: DOID:9006215 ! Exfoliative Dermatitis [Term] id: DOID:9006071 name: Spastic Ataxia 10, Autosomal Recessive def: "A slowly progressive movement disorder with a variable age at onset (range infancy to adulthood). Caused by homozygous or compound heterozygous mutation in the COQ4 gene on chromosome 9q34." [MIM:620666] synonym: "SPAX10" EXACT [] xref: MIM:620666 is_a: DOID:0050952 ! spastic ataxia created_by: tutajm creation_date: 2024-01-19T10:29:09Z [Term] id: DOID:9006072 name: Neurodegeneration with Brain Iron Accumulation 9 def: "A disease characterized by global developmental delay apparent from infancy and progressive neurodegeneration of motor and cognitive skills. Caused by heterozygous mutation in the FTH1 gene on chromosome 11q12." [MIM:620669] synonym: "NBIA9" EXACT [] xref: MIM:620669 is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation created_by: tutajm creation_date: 2024-01-19T10:22:00Z [Term] id: DOID:9006074 name: Tabatznik Syndrome synonym: "Heart-hand syndrome 2" EXACT [] xref: MESH:C536784 xref: RDO:0002474 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9006075 name: Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, and Gingival Overgrowth Syndrome def: "FHEIG is caused by heterozygous mutation in the KCNK4 gene on chromosome 11q13. (OMIM)" [] synonym: "FHEIG" EXACT [] synonym: "KCNK4-RELATED CONDITION" EXACT [] xref: MIM:618381 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:3086 ! gingival overgrowth is_a: DOID:420 ! hypertrichosis is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: gthayman creation_date: 2019-04-15T00:00:00Z [Term] id: DOID:9006076 name: Epilepsia Partialis Continua def: "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)" [MESH:D017036] synonym: "Chronic Progressive Epilepsia Partialis Continua" EXACT [] synonym: "Kojevnikov's Epilepsies" EXACT [] synonym: "Kojevnikov's Epilepsy" EXACT [] synonym: "Kojevnikov Epilepsy" EXACT [] synonym: "Kojewnikov's Epilepsy" EXACT [] synonym: "Kojewnikov Epilepsy" EXACT [] synonym: "Kojewnikow's Syndrome" EXACT [] synonym: "Kojewnikow Syndrome" EXACT [] synonym: "Kozhevnikov's Syndrome" EXACT [] synonym: "Kozhevnikov Syndrome" EXACT [] synonym: "Kozhevnikow Syndrome, Progressive Variant" EXACT [] synonym: "Progressive Variant of Kozhevnikow Syndrome" EXACT [] xref: EFO:1000924 xref: MESH:D017036 is_a: DOID:1824 ! status epilepticus [Term] id: DOID:9006077 name: Martinez-Frias Syndrome alt_id: MIM:601346 synonym: "Diabetes, Neonatal, with Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia" EXACT [] synonym: "Pancreatic Hypoplasia, Intestinal Atresia, and Gallbladder Aplasia or Hypoplasia, with or without Tracheoesophageal Fistula" EXACT [] xref: MESH:C563346 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:10486 ! intestinal atresia is_a: DOID:225 ! syndrome is_a: DOID:9008498 ! Tracheoesophageal Fistula is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9006078 name: MHC CLASS I DEFICIENCY 2 def: "This disease is an autosomal recessive immunologic disorder characterized by the onset of chronic bacterial sinobronchial infections in the first or second decades of life. Patient cells have decreased or absent expression of MHC type I (HLA class I) antigens on the cell surface. This disease has_material_basis_in autosomal recessive inheritance of TAP2." [MIM:620813] synonym: "MHC1D2" EXACT [] synonym: "TAP2-RELATED CONDITION" EXACT [] xref: MIM:620813 xref: MONDO:0971011 is_a: DOID:0060009 ! MHC class I deficiency created_by: slaulederkind creation_date: 2024-06-18T09:16:43Z [Term] id: DOID:9006079 name: Inherited Peripheral Neuropathy xref: MESH:C548028 is_a: DOID:574 ! peripheral nervous system disease [Term] id: DOID:9006080 name: Acute Retroviral Syndrome def: "Early stage of HIV infection. Symptoms resemble INFLUENZA or INFECTIOUS MONONUCLEOSIS." [MESH:D000071297] xref: MESH:D000071297 is_a: DOID:225 ! syndrome is_a: DOID:526 ! human immunodeficiency virus infectious disease [Term] id: DOID:9006081 name: Osteolysis def: "Dissolution of bone that particularly involves the removal or loss of calcium." [MESH:D010014] synonym: "Osteolyses" EXACT [] xref: MESH:D010014 is_a: DOID:0080011 ! bone resorption disease [Term] id: DOID:9006082 name: Methionine Malabsorption Syndrome alt_id: MIM:250900 synonym: "Oasthouse Urine Disease" EXACT [] synonym: "Smith-Strang Disease" EXACT [] xref: MESH:C562682 is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9004659 ! Respiration Disorders is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9006083 name: Fowler Christmas Chapple Syndrome synonym: "voiding dysfunction and polycystic ovaries" EXACT [] xref: MESH:C537271 is_a: DOID:11612 ! polycystic ovary syndrome is_a: DOID:9003919 ! Urination Disorders [Term] id: DOID:9006084 name: Gigantism def: "The condition of accelerated and excessive GROWTH in children or adolescents who are exposed to excess HUMAN GROWTH HORMONE before the closure of EPIPHYSES. It is usually caused by somatotroph hyperplasia or a GROWTH HORMONE-SECRETING PITUITARY ADENOMA. These patients are of abnormally tall stature, more than 3 standard deviations above normal mean height for age." [MESH:D005877] synonym: "Pituitary Gigantism" EXACT [] xref: MESH:D005877 is_a: DOID:0080006 ! bone development disease is_a: DOID:2444 ! hyperpituitarism is_a: DOID:9007819 ! Endocrine Bone Diseases [Term] id: DOID:9006085 name: Megalodactyly alt_id: MIM:155500 synonym: "Macrodactyly" EXACT [] xref: MESH:C562546 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9006086 name: Intervertebral Disc Displacement def: "An INTERVERTEBRAL DISC in which the NUCLEUS PULPOSUS has protruded through surrounding ANNULUS FIBROSUS. This occurs most frequently in the lower lumbar region." [MESH:D007405] synonym: "Disk Prolapse" EXACT [] synonym: "Disk Prolapses" EXACT [] synonym: "Herniated Disc" EXACT [] synonym: "Herniated Discs" EXACT [] synonym: "Herniated Disk" EXACT [] synonym: "Herniated Disks" EXACT [] synonym: "Intervertebral Disc Displacements" EXACT [] synonym: "Intervertebral Disk Displacement" EXACT [] synonym: "Intervertebral Disk Displacements" EXACT [] synonym: "Prolapsed Disc" EXACT [] synonym: "Prolapsed Discs" EXACT [] synonym: "Prolapsed Disk" EXACT [] synonym: "Prolapsed Disks" EXACT [] synonym: "Slipped Disc" EXACT [] synonym: "Slipped Discs" EXACT [] synonym: "Slipped Disk" EXACT [] synonym: "Slipped Disks" EXACT [] xref: EFO:1001800 xref: MESH:D007405 is_a: DOID:0060564 ! spinal disease is_a: DOID:9000585 ! Intervertebral Disc Disease [Term] id: DOID:9006087 name: Skeletal Dysplasia, San Diego Type xref: MESH:C536670 is_a: DOID:13481 ! thanatophoric dysplasia is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9006088 name: Familial Vascular Leukoencephalopathy xref: MESH:C531642 is_a: DOID:13945 ! CADASIL [Term] id: DOID:9006089 name: Opticospinal Multiple Sclerosis synonym: "Opticospinal MS" EXACT [] synonym: "Optic-Spinal MS" EXACT [] synonym: "Optic-Spinal Multiple Sclerosis" EXACT [] xref: MESH:C580329 is_a: DOID:2377 ! multiple sclerosis [Term] id: DOID:9006090 name: Colonic Varices without Portal Hypertension alt_id: MIM:120440 xref: MESH:C565172 is_a: DOID:799 ! varicose veins [Term] id: DOID:9006091 name: Gurrieri Sammito Bellussi Syndrome alt_id: MIM:601187 synonym: "Gurrieri syndrome" EXACT [] synonym: "Skeletal dysplasia epilepsy short stature" EXACT [] xref: MESH:C537625 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome [Term] id: DOID:9006092 name: Spondyloepimetaphyseal Dysplasia, Irapa Type alt_id: MIM:271650 synonym: "SEMDIT" EXACT [] xref: MESH:C562958 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:9006094 name: Conductive Deafness with Malformed External Ear alt_id: MIM:221300 xref: MESH:C565644 is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9006095 name: Ascites def: "Accumulation or retention of free fluid within the peritoneal cavity." [MESH:D001201] xref: MESH:D001201 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9006096 name: Uterine Cervical Dysplasia def: "Abnormal development of immature squamous EPITHELIAL CELLS of the UTERINE CERVIX, a term used to describe premalignant cytological changes in the cervical EPITHELIUM. These atypical cells do not penetrate the epithelial BASEMENT MEMBRANE." [MESH:D002578] synonym: "Cervix Dysplasia" EXACT [] xref: EFO:1000910 xref: MESH:D002578 xref: RDO:0005174 is_a: DOID:0060071 ! pre-malignant neoplasm is_a: DOID:2253 ! cervix disease [Term] id: DOID:9006097 name: Sheep Diseases def: "Diseases of domestic and mountain sheep of the genus Ovis." [MESH:D012757] synonym: "Ovine Disease" EXACT [] synonym: "Ovine Diseases" EXACT [] synonym: "Sheep Disease" EXACT [] xref: MESH:D012757 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9006098 name: Abetalipoproteinemia Neuropathy xref: MESH:C540309 is_a: DOID:1386 ! abetalipoproteinemia is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9006099 name: 5-Oxoprolinase Deficiency def: "5-Oxoprolinuria can be caused by genetic defects in either of 2 enzymes involved in the gamma-glutamyl cycle of glutathione metabolism: glutathione synthetase (GSS) or 5-oxoprolinase (OPLAH). GSS deficiency (266130) is best characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. (OMIM)" [] synonym: "5-alpha-oxoprolinase deficiency" EXACT [] synonym: "OPLAHD" EXACT [] synonym: "oxoprolinuria due to 5-oxoprolinase deficiency" EXACT [] synonym: "oxoprolinuria due to oxoprolinase deficiency" EXACT [] xref: MESH:C535322 xref: MIM:260005 xref: MONDO:0009825 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9006100 name: Tang Hsi Ryu Syndrome synonym: "Ascitis, splenomegaly, lymphadenopathy" EXACT [] synonym: "Polyneuropathy hepatosplenomegaly hyperpigmentation" EXACT [] synonym: "Syndrome of polyneuropathy, skin hyperpigmentation, oedema and hepatosplenomegaly" EXACT [] xref: MESH:C536897 xref: RDO:0002615 is_a: DOID:10123 ! pigmentation disease is_a: DOID:225 ! syndrome is_a: DOID:863 ! nervous system disease is_a: DOID:9002720 ! Splenomegaly is_a: DOID:9005369 ! Hepatomegaly [Term] id: DOID:9006101 name: Primary Ovarian Failure synonym: "Female hypergonadotropic hypogonadism" EXACT [] synonym: "Hypergonadotrophic ovarian failure" EXACT [] synonym: "Primary female hypogonadism" EXACT [] is_a: DOID:1100 ! ovarian disease created_by: slaulede creation_date: 2020-03-17T12:38:29Z [Term] id: DOID:9006102 name: Right Ventricular Hypertrophy alt_id: RDO:0007043 def: "Enlargement of the RIGHT VENTRICLE of the heart. This increase in ventricular mass is often attributed to PULMONARY HYPERTENSION and is a contributor to cardiovascular morbidity and mortality." [MESH:D017380] synonym: "hypertrophy of right ventricle" EXACT [] synonym: "Right Ventricular Hypertrophies" EXACT [] xref: MESH:D017380 is_a: DOID:9003936 ! Cardiomegaly [Term] id: DOID:9006103 name: Camptodactyly Joint Contractures and Facial Skeletal Dysplasia xref: MESH:C537969 is_a: DOID:11836 ! clubfoot is_a: DOID:1934 ! dysostosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9006836 ! Contracture [Term] id: DOID:9006104 name: Multiple Syringomas alt_id: MIM:186600 xref: MESH:C566085 is_a: DOID:2065 ! syringoma [Term] id: DOID:9006105 name: Craniomandibular Disorders def: "Diseases or disorders of the muscles of the head and neck, with special reference to the masticatory muscles. The most notable examples are TEMPOROMANDIBULAR JOINT DISORDERS and TEMPOROMANDIBULAR JOINT DYSFUNCTION SYNDROME." [MESH:D017271] synonym: "craniomandibular disease" EXACT [] synonym: "craniomandibular diseases" EXACT [] synonym: "craniomandibular disorder" EXACT [] xref: MESH:D017271 is_a: DOID:0080000 ! muscular disease is_a: DOID:9006309 ! Mandibular Diseases [Term] id: DOID:9006106 name: Spastic Paraplegia Type 5B, Recessive xref: MESH:C536872 is_a: DOID:2476 ! hereditary spastic paraplegia [Term] id: DOID:9006107 name: Secondary Dentin def: "Dentin formed by normal pulp after completion of root end formation." [MESH:D003809] synonym: "Secondary Dentins" EXACT [] xref: MESH:D003809 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:9006108 name: Uniparental Disomy def: "The presence in a cell of two paired chromosomes from the same parent, with no chromosome of that pair from the other parent. This chromosome composition stems from non-disjunction (NONDISJUNCTION, GENETIC) events during MEIOSIS. The disomy may be composed of both homologous chromosomes from one parent (heterodisomy) or a duplicate of one chromosome (isodisomy)." [MESH:D024182] synonym: "Uniparental Disomies" EXACT [] synonym: "Uniparental Heterodisomies" EXACT [] synonym: "Uniparental Heterodisomy" EXACT [] synonym: "Uniparental Isodisomies" EXACT [] synonym: "Uniparental Isodisomy" EXACT [] xref: MESH:D024182 is_a: DOID:9003254 ! Genetic Nondisjunction [Term] id: DOID:9006109 name: Goodman Camptodactyly alt_id: MIM:201020 synonym: "Acrocephalopolysyndactyly type 4" EXACT [] synonym: "Acrocephalopolysyndactyly Type IV" EXACT [] synonym: "Goodman syndrome" EXACT [] xref: MESH:C537287 is_a: DOID:12960 ! acrocephalosyndactylia is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9006111 name: Systemic Venular Insufficiency alt_id: MIM:192700 xref: MESH:C566004 is_a: DOID:10128 ! venous insufficiency [Term] id: DOID:9006112 name: Mucoepidermoid Tumor def: "A malignant epithelial tumor of glandular tissue, especially the salivary glands, characterized by acini with mucus-producing cells and by the presence of malignant squamous elements. Most mucoepidermoid tumors are low-grade lesions readily cured by adequate excision. They may appear in any age group. They grow slowly. If high-grade, they behave aggressively, widely infiltrating the salivary gland and producing lymph node and distant metastases. (Dorland, 27th ed; from DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p575)" [MESH:D018298] synonym: "Mucoepidermoid Tumors" EXACT [] xref: EFO:1001049 xref: MESH:D018298 xref: MONDO:0003036 xref: RDO:0007170 is_a: DOID:9008105 ! Cystic, Mucinous, and Serous Neoplasms [Term] id: DOID:9006113 name: Gallstones def: "Solid crystalline precipitates in the BILIARY TRACT, usually formed in the GALLBLADDER, resulting in the condition of CHOLELITHIASIS. Gallstones, derived from the BILE, consist mainly of calcium, cholesterol, or bilirubin." [MESH:D042882] synonym: "Biliary Calculi" EXACT [] synonym: "Biliary Calculi, Common Bile Duct" EXACT [] synonym: "Common Bile Duct Calculi" EXACT [] synonym: "Common Bile Duct Gall Stones" EXACT [] synonym: "Common Bile Duct Gallstones" EXACT [] synonym: "Gall Stone" EXACT [] synonym: "Gallstone" EXACT [] synonym: "Gall Stones" EXACT [] xref: EFO:0004210 xref: MESH:D042882 is_a: DOID:10211 ! cholelithiasis is_a: DOID:11151 ! cholecystolithiasis is_a: DOID:9005602 ! Calculi [Term] id: DOID:9006114 name: Bird Diseases def: "Diseases of birds not considered poultry, therefore usually found in zoos, parks, and the wild. The concept is differentiated from POULTRY DISEASES which is for birds raised as a source of meat or eggs for human consumption, and usually found in barnyards, hatcheries, etc." [MESH:D001715] synonym: "Avian Disease" EXACT [] synonym: "Avian Diseases" EXACT [] synonym: "Bird Disease" EXACT [] xref: MESH:D001715 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9006115 name: Dyskinesia with Orofacial Involvement, Autosomal Dominant alt_id: MIM:606703 synonym: "DSKOD" NARROW [] synonym: "dyskinesia with orofacial involvement, autosomal dominant" NARROW [] is_a: DOID:9007924 ! Dyskinesia with Orofacial Involvement created_by: mtutaj creation_date: 2023-03-07T14:19:05Z [Term] id: DOID:9006117 name: Low Vision def: "Vision considered to be inferior to normal vision as represented by accepted standards of acuity, field of vision, or motility. Low vision generally refers to visual disorders that are caused by diseases that cannot be corrected by refraction (e.g., MACULAR DEGENERATION; RETINITIS PIGMENTOSA; DIABETIC RETINOPATHY, etc.)." [MESH:D015354] synonym: "diminished vision" EXACT [] synonym: "reduced vision" EXACT [] synonym: "subnormal vision" EXACT [] xref: MESH:D015354 is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:9006118 name: Amyloid Angiopathy synonym: "Amyloidosis - cerebral" EXACT [] synonym: "Senile cerebral amyloid angiopathy" EXACT [] xref: MESH:C538248 xref: RDO:0004199 is_a: DOID:9246 ! cerebral amyloid angiopathy [Term] id: DOID:9006120 name: Absent Patella alt_id: MIM:168860 synonym: "Familial absence of the patella" EXACT [] synonym: "Familial aplasia of the patella" EXACT [] synonym: "Patella aplasia-hypoplasia" EXACT [] synonym: "PTLAH" EXACT [] xref: MESH:C535568 xref: RDO:0000764 is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9006121 name: Infantile Apparent Life-Threatening Event def: "An event experienced by an infant or a child that is characterized by some combination of apnea, color change, change in muscle tone, choking, and gagging." [MESH:D057768] synonym: "Idiopathic Apparent Life Threatening Event" EXACT [] xref: MESH:D057768 xref: RDO:0007792 is_a: DOID:11162 ! respiratory failure is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9000781 ! Cyanosis [Term] id: DOID:9006122 name: Rokitansky-Aschoff Sinuses of the Gallbladder synonym: "Intramural diverticulosis of the gallbladder" EXACT [] synonym: "Rokitansky-Aschoff sinuses" EXACT [] xref: MESH:C535869 is_a: DOID:8719 ! in situ carcinoma is_a: DOID:9000011 ! Gallbladder Neoplasms [Term] id: DOID:9006123 name: Mitochondrial Complex III Deficiency Nuclear Type 11 def: "An autosomal recessive disorder characterized by recurrent episodes of severe lactic acidosis, hyperammonemia, hypoglycemia, and encephalopathy. Caused by homozygous mutation in the UQCRH gene on chromosome 1p33." [MIM:620137] synonym: "MC3DN11" EXACT [] xref: MIM:620137 is_a: DOID:0111139 ! mitochondrial complex III deficiency created_by: mtutaj creation_date: 2022-11-29T07:53:53Z [Term] id: DOID:9006124 name: Albinism Deafness Syndrome alt_id: MIM:300700 alt_id: RDO:0002800 synonym: "ADFN" EXACT [] synonym: "ALDS" EXACT [] xref: MESH:C537042 is_a: DOID:225 ! syndrome is_a: DOID:9001386 ! Albinism is_a: DOID:9008681 ! Deafness [Term] id: DOID:9006125 name: Myopia 15 alt_id: MIM:612717 synonym: "MYOPIA 15, AUTOSOMAL DOMINANT" EXACT [] synonym: "MYP15" EXACT [] xref: MESH:C567193 is_a: DOID:11830 ! myopia [Term] id: DOID:9006127 name: Stargardt Macular Degeneration Absent or Hypoplastic Corpus Callosum Mental Retardation and Dysmorphic Features alt_id: MIM:612948 xref: MESH:C548086 is_a: DOID:4448 ! macular degeneration is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006128 name: Kilquist Syndrome def: "An autosomal recessive multisystem disorder characterized by neurologic, gastrointestinal, and secretory dysfunction. Affected individuals present at birth with hypotonia, feeding difficulties, mild dysmorphic features, and sensorineural hearing loss. (OMIM)" [] synonym: "KILQS" EXACT [] xref: MIM:619080 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2020-11-10T14:20:20Z [Term] id: DOID:9006129 name: Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" EXACT [] synonym: "Alzheimer disease, familial, 3, with unusual plaques" EXACT [] synonym: "Alzheimer disease, familial, with spastic paraparesis and unusual plaques" EXACT [] xref: MESH:C564329 is_a: DOID:9006051 ! Alzheimer's Disease, Familial, 3, with Spastic Paraparesis [Term] id: DOID:9006130 name: Prostate Cancer, Hereditary, X-Linked 1 synonym: "HPCX1" EXACT [] synonym: "PCSX" EXACT [] synonym: "PROSTATE CANCER SUSCEPTIBILITY, X-LINKED" EXACT [] xref: MIM:300147 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9006131 name: Genoa Syndrome alt_id: MIM:601370 synonym: "Camera Lituania Cohen syndrome" EXACT [] synonym: "Holoprosencephaly craniosynostosis" EXACT [] synonym: "holoprosencephaly-craniosynostosis syndrome" EXACT [] synonym: "Semilobar holoprosencephaly and primary craniosynostosis" EXACT [] synonym: "Semilobar holoprosencephaly with craniosynostosis" EXACT [] xref: GARD:2454 xref: MESH:C537684 xref: MONDO:0011059 xref: ORDO:2163 is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:4621 ! holoprosencephaly [Term] id: DOID:9006132 name: Bresheck/Bresek Syndrome synonym: "Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Malformations, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate/Cryptorchidism, and Kidney Dysplasia/Hypoplasia" EXACT [] synonym: "Bresek Syndrome" EXACT [] synonym: "Bresheck Syndrome" EXACT [] xref: MESH:C564519 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1059 ! intellectual disability is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9006134 name: Odontogenic Tumors def: "Neoplasms produced from tooth-forming tissues." [MESH:D009808] synonym: "Dental Tissue Neoplasm" EXACT [] synonym: "Dental Tissue Neoplasms" EXACT [] synonym: "Odontogenic Tumor" EXACT [] synonym: "Primary Intraosseous Squamous Cell Carcinoma" NARROW [] xref: EFO:1000492 xref: MESH:D009808 is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9006136 name: Peripapillary Atrophy, Beta Type alt_id: MIM:611650 synonym: "Beta-PPA" EXACT [] synonym: "Peripapillary Chorioretinal Atrophy, Beta Type" EXACT [] xref: MESH:C566898 is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9006137 name: Renal Tubular Dysgenesis alt_id: DOID:9006774 def: "This disease is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder." [] synonym: "Allanson Pantzar McLeod Syndrome" EXACT [] synonym: "autosomal recessive renal tubular dysgenesis" EXACT [] synonym: "Primitive renal tubule syndrome" EXACT [] synonym: "Renal tubular dysgenesis" EXACT [] synonym: "RENAL TUBULAR DYSGENESIS OF GENETIC ORIGIN" EXACT [] synonym: "Renotubular dysgenesis" EXACT [] synonym: "REN-RELATED CONDITION" BROAD [] synonym: "RTD" EXACT [] xref: MESH:C537048 xref: MIM:267430 is_a: DOID:557 ! kidney disease [Term] id: DOID:9006138 name: Laminopathies def: "Genetic diseases caused by mutations of the lamin A/C gene (LMNA): dystrophies of skeletal and/or cardiac muscles, and partial lipodystrophies." [] synonym: "laminopathy" EXACT [] xref: MESH:D000083083 is_a: DOID:630 ! genetic disease created_by: rgd creation_date: 2016-06-16T00:00:00Z [Term] id: DOID:9006139 name: Immunodeficiency 89 and Autoimmunity def: "An autosomal recessive immune disorder characterized by adult onset of recurrent infections, allergies, microcytic anemia, and Crohn disease. Caused by homozygous mutation in the CARD10 gene on chromosome 22q13." [MIM:619632] synonym: "IMD89" EXACT [] xref: MIM:619632 is_a: DOID:417 ! autoimmune disease is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-11-30T10:43:37Z [Term] id: DOID:9006140 name: Neurodevelopmental Disorder with Progressive Microcephaly, Spasticity, and Brain Anomalies def: "An autosomal recessive neurodevelopmental disorder characterized by infantile onset of progressive microcephaly and spasticity and severe global developmental delay resulting in profound mental retardation and severely impaired or absent motor function. (OMIM)" [] synonym: "NDMSBA" EXACT [] xref: MIM:617527 is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2017-07-12T00:00:00Z [Term] id: DOID:9006141 name: Childhood Absence Epilepsy 5 synonym: "ECA5" EXACT [] synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5" RELATED [] xref: MIM:612269 is_a: DOID:1825 ! childhood absence epilepsy created_by: mtutaj creation_date: 2022-10-25T08:10:18Z [Term] id: DOID:9006142 name: Palmer Pagon Syndrome xref: MESH:C538107 xref: RDO:0004039 is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome [Term] id: DOID:9006143 name: Autosomal Recessive Nonsyndromic Deafness 121 def: "A disease characterized by congenital or prelingual moderate sensorineural hearing loss. Caused by homozygous or compound heterozygous mutation in the GPR156 gene on chromosome 3q13." [MIM:620551] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 121" EXACT [] synonym: "DFNB121" EXACT [] xref: MIM:620551 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: tutajm creation_date: 2023-10-30T09:37:31Z [Term] id: DOID:9006145 name: Congenital Heart Defects, Multiple Types, 9 def: "A disease characterized by common arterial trunk (truncus arteriosus communis) in most patients, associated with other cardiac defects, including tetralogy of Fallot, interrupted aortic arch, right aortic arch, ventricular hypoplasia, and hypoplastic left heart, as well as other vascular and valvular anomalies. Caused by homozygous or compound heterozygous mutation in the PLXND1 gene on chromosome 3q22." [MIM:620294] synonym: "CHTD9" EXACT [] xref: MIM:620294 is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types created_by: mtutaj creation_date: 2023-03-31T08:28:41Z [Term] id: DOID:9006146 name: Ovarian Hyperandrogenism def: "This involves increased production of androgens by the ovaries." [] xref: EFO:0009008 is_a: DOID:11613 ! hyperandrogenism created_by: slaulede creation_date: 2022-10-25T14:29:09Z [Term] id: DOID:9006147 name: Lactose Intolerance, Adult Type alt_id: MIM:223100 synonym: "Adult Lactase Deficiency" EXACT [] synonym: "Disaccharide Intolerance III" EXACT [] synonym: "DISACCHARIDE INTOLERANCE III LACTASE PERSISTENCE" NARROW [] synonym: "Hypolactasia, Adult Type" EXACT [] xref: EFO:1000063 xref: MESH:C562601 xref: RDO:0012245 is_a: DOID:10604 ! lactose intolerance [Term] id: DOID:9006148 name: King's Evil alt_id: RDO:0007221 def: "The historic designation for scrofula (TUBERCULOSIS, LYMPH NODE). The disease is so called from the belief that it could be healed by the touch of a king. This term is used only for historical articles using the name 'king's evil', and is to be differentiated from scrofula as lymph node tuberculosis in modern clinical medicine. (From Webster, 3d ed)" [MESH:D018601] synonym: "Kings Evil" EXACT [] synonym: "Kings Evils" EXACT [] xref: MESH:D018601 is_a: DOID:4889 ! lymph node tuberculosis [Term] id: DOID:9006149 name: Chromosome 14q, Proximal Duplication synonym: "Duplication 14q proximal" EXACT [] synonym: "Trisomy 14q proximal" EXACT [] xref: MESH:C538032 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9006150 name: Noncompaction of Left Ventricular Myocardium, Familial Isolated, Autosomal Dominant 2 xref: MESH:C563712 is_a: DOID:0060480 ! left ventricular noncompaction [Term] id: DOID:9006151 name: Choroidal Neovascularization, Experimental def: "Choroidal neovascularization that is induced in experimental animals by use of laser, hypoxia, or chemical injury." [] xref: RDO:9000349 is_a: DOID:9001044 ! Choroidal Neovascularization is_a: DOID:9006205 ! Animal Disease Models created_by: rgd creation_date: 2016-06-03T00:00:00Z [Term] id: DOID:9006152 name: Enuresis, Nocturnal, 2 alt_id: MIM:600808 synonym: "ENUR2" EXACT [] xref: MESH:C563439 xref: RDO:0012695 is_a: DOID:9004956 ! Nocturnal Enuresis [Term] id: DOID:9006153 name: Glycogen Storage Disease XII alt_id: MIM:611881 synonym: "ALDOA Deficiency" EXACT [] synonym: "Aldolase A Deficiency" EXACT [] synonym: "GSD12" EXACT [] synonym: "GSD XII" EXACT [] synonym: "Red Cell Aldolase Deficiency" EXACT [] xref: MESH:C562718 is_a: DOID:2747 ! glycogen storage disease [Term] id: DOID:9006154 name: Accessory Atrioventricular Bundle def: "Extra impulse-conducting tissue in the heart that creates abnormal impulse-conducting connections between HEART ATRIA and HEART VENTRICLES." [MESH:D058606] synonym: "Accessory Atrioventricular Bundles" EXACT [] synonym: "Accessory Atrioventricular Pathway" EXACT [] synonym: "Accessory Atrioventricular Pathways" EXACT [] synonym: "Accessory Conducting Pathway" EXACT [] synonym: "Accessory Conducting Pathways" EXACT [] synonym: "Atrio Hisian Bypass Tract" EXACT [] synonym: "Atrio-Hisian Bypass Tracts" EXACT [] synonym: "Atriohisian Fiber" EXACT [] synonym: "Atriohisian Fibers" EXACT [] synonym: "Atriohisian Tract" EXACT [] synonym: "Atriohisian Tracts" EXACT [] synonym: "Bundle of Kent" EXACT [] synonym: "Concealed Accessory Pathway" EXACT [] synonym: "Concealed Accessory Pathways" EXACT [] synonym: "Fasciculoventricular Accessory Pathway" EXACT [] synonym: "Fasciculoventricular Accessory Pathways" EXACT [] synonym: "Fasciculoventricular Pathway" EXACT [] synonym: "Fasciculoventricular Pathways" EXACT [] synonym: "James Fibers" EXACT [] synonym: "Kent Bundle" EXACT [] synonym: "Mahaim Fibers" EXACT [] synonym: "Nodoventricular Accessory Pathway" EXACT [] synonym: "Nodoventricular Accessory Pathways" EXACT [] synonym: "Nodoventricular Pathway" EXACT [] synonym: "Nodoventricular Pathways" EXACT [] xref: MESH:D058606 xref: RDO:0007842 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9006155 name: Amniotic Fluid Embolism def: "Blocking of maternal circulation by AMNIOTIC FLUID that is forced into uterine VEINS by strong UTERINE CONTRACTION near the end of pregnancy. It is characterized by the sudden onset of severe respiratory distress and HYPOTENSION that can lead to maternal DEATH." [MESH:D004619] synonym: "Amniotic Fluid Embolisms" EXACT [] xref: EFO:1001263 xref: MESH:D004619 is_a: DOID:9002522 ! Embolism is_a: DOID:9008614 ! Cardiovascular Pregnancy Complications [Term] id: DOID:9006156 name: Familial Cystic Parathyroid Adenomatosis synonym: "CYSTIC PARATHYROID ADENOMA" EXACT [] synonym: "CYSTIC PARATHYROID ADENOMA, SOMATIC" NARROW [] xref: MESH:C564165 is_a: DOID:11202 ! primary hyperparathyroidism is_a: DOID:1862 ! jaw cancer is_a: DOID:657 ! adenoma is_a: DOID:9004331 ! Parathyroid Neoplasms [Term] id: DOID:9006157 name: X Chromosome, Monosomy Xp22 pter synonym: "Deletion Xp22 pter" EXACT [] synonym: "Monosomy Xp22 pter" EXACT [] xref: MESH:C536754 xref: RDO:0002434 is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006158 name: Peroxisome Biogenesis Disorder, Complementation Group K synonym: "CGK" NARROW [] xref: MESH:C566624 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9006159 name: Undefined Platelet Disorder alt_id: MIM:173420 xref: MESH:C566799 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:9006161 name: Osteochondritis alt_id: RDO:0000870 def: "Inflammation of a bone and its overlaying CARTILAGE." [MESH:D010007] synonym: "meniscitides" EXACT [] synonym: "Meniscitis" EXACT [] synonym: "osteochondritides" EXACT [] xref: MESH:D010007 is_a: DOID:1222 ! cartilage disease is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:9006162 name: Endotoxin Hyporesponsiveness xref: MESH:C566417 xref: RDO:0014776 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9006163 name: Microcephaly, Retinitis Pigmentosa, and Sutural Cataract alt_id: MIM:601537 xref: MESH:C563296 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:10907 ! microcephaly is_a: DOID:83 ! cataract [Term] id: DOID:9006165 name: Porokeratosis 6, Multiple Types def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, reports of several families with expression of more than one variant of porokeratosis among members, and of individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK6 maps to chromosome 1p31. (OMIM)" [] synonym: "disseminated superficial actinic porokeratosis 4" EXACT [] synonym: "disseminated superficial porokeratosis 6" EXACT [] synonym: "DSAP4" EXACT [] synonym: "POROK6" EXACT [] xref: MIM:612353 is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9006166 name: Pulmonary Hypertension, Hypoxia-Induced def: "Increased vascular resistance in the pulmonary circulation, secondary to hypoxia." [] xref: RDO:9000421 is_a: DOID:6432 ! pulmonary hypertension created_by: rgd creation_date: 2015-10-09T00:00:00Z [Term] id: DOID:9006167 name: Partial Agenesis of Corpus Callosum, X-Linked alt_id: MIM:304100 xref: MESH:C564115 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9007462 ! Partial Agenesis of Corpus Callosum [Term] id: DOID:9006168 name: Polyneuropathy, Lethal Neonatal, Axonal Sensorimotor, Autosomal Recessive alt_id: MIM:604431 xref: MESH:C565773 is_a: DOID:2477 ! motor peripheral neuropathy [Term] id: DOID:9006169 name: Head and Neck Neoplasms alt_id: RDO:0000780 def: "Soft tissue tumors or cancer arising from the mucosal surfaces of the LIP; oral cavity; PHARYNX; LARYNX; and cervical esophagus. Other sites included are the NOSE and PARANASAL SINUSES; SALIVARY GLANDS; THYROID GLAND and PARATHYROID GLANDS; and MELANOMA and non-melanoma skin cancers of the head and neck. (from Holland et al., Cancer Medicine, 4th ed, p1651)" [MESH:D006258] synonym: "Cancer of Head" NARROW [] synonym: "Cancer of Neck" NARROW [] synonym: "Cancer of the Head" NARROW [] synonym: "Cancer of the Neck" NARROW [] synonym: "Head Cancer" NARROW [] synonym: "Head, Neck Neoplasms" EXACT [] synonym: "Head Neoplasms" EXACT [] synonym: "Neck Cancer" NARROW [] synonym: "Neck Neoplasms" EXACT [] synonym: "UADT Neoplasm" EXACT [] synonym: "UADT Neoplasms" EXACT [] synonym: "upper aerodigestive tract neoplasm" EXACT [] synonym: "Upper Aerodigestive Tract Neoplasms" EXACT [] xref: EFO:0004284 xref: EFO:0005950 xref: MESH:D006258 is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9006170 name: Hyperheparinemia alt_id: MIM:144050 xref: MESH:C562723 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:9006171 name: Gaucher Disease, Type IIIb xref: MESH:C565555 is_a: DOID:0110959 ! Gaucher's disease type III [Term] id: DOID:9006172 name: Urinary Bladder Fistula def: "An abnormal passage in the URINARY BLADDER or between the bladder and any surrounding organ." [MESH:D001747] synonym: "Urinary Bladder Fistulas" EXACT [] synonym: "Vesical Fistula" EXACT [] synonym: "Vesical Fistulas" EXACT [] xref: EFO:1001862 xref: MESH:D001747 xref: RDO:0005012 is_a: DOID:365 ! bladder disease is_a: DOID:9007335 ! Urinary Fistula [Term] id: DOID:9006174 name: Chromosome 2, Monosomy 2q synonym: "Deletion 2q" EXACT [] synonym: "Monosomy 2q" EXACT [] xref: MESH:C538315 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006175 name: Peritoneal Diseases def: "Pathological processes involving the PERITONEUM." [MESH:D010532] synonym: "disease of peritoneum" EXACT [] synonym: "Peritoneal Disease" EXACT [] xref: EFO:0009541 xref: MESH:D010532 is_a: DOID:77 ! gastrointestinal system disease [Term] id: DOID:9006176 name: Cardioneuromyopathy with Hyaline Masses and Nemaline Rods alt_id: MIM:606842 xref: MESH:C564655 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:3191 ! nemaline myopathy [Term] id: DOID:9006177 name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES def: "This disease is characterized by severe dilated cardiomyopathy resulting in death or cardiac transplantation in childhood. Various ectodermal abnormalities may be present in patients." [MIM:620519] synonym: "ARCME" EXACT [] xref: MIM:620519 is_a: DOID:0050700 ! cardiomyopathy created_by: slaulederkind creation_date: 2023-11-07T13:23:38Z [Term] id: DOID:9006178 name: Dysphonia def: "Difficulty and/or pain in PHONATION or speaking." [MESH:D055154] synonym: "Hyperkinetic Dysphonia" EXACT [] synonym: "Neurologic Adducter Spastic Dysphonia" EXACT [] synonym: "Organic Tremor Dysphonia" EXACT [] synonym: "Phonation Disorder" EXACT [] synonym: "Phonation Disorders" EXACT [] synonym: "Spastic Dysphonia" EXACT [] xref: MESH:D055154 is_a: DOID:9006046 ! Voice Disorders [Term] id: DOID:9006179 name: Autoimmune Progesterone Dermatitis xref: MESH:C535299 is_a: DOID:2723 ! dermatitis is_a: DOID:417 ! autoimmune disease [Term] id: DOID:9006181 name: Congenital Muscular Dystrophy with Central Nervous System Involvement alt_id: RDO:0004132 synonym: "Muscular dystrophy, congenital progressive, with mental retardation" EXACT [] xref: MESH:C538190 is_a: DOID:0050560 ! Walker-Warburg syndrome [Term] id: DOID:9006182 name: Carotid Artery Injuries def: "Damages to the CAROTID ARTERIES caused either by blunt force or penetrating trauma, such as CRANIOCEREBRAL TRAUMA; THORACIC INJURIES; and NECK INJURIES. Damaged carotid arteries can lead to CAROTID ARTERY THROMBOSIS; CAROTID-CAVERNOUS SINUS FISTULA; pseudoaneurysm formation; and INTERNAL CAROTID ARTERY DISSECTION. (From Am J Forensic Med Pathol 1997, 18:251; J Trauma 1994, 37:473)" [MESH:D020212] synonym: "Carotid Arteriopathies, Traumatic" EXACT [] synonym: "Carotid Artery Injury" EXACT [] synonym: "Carotid Artery Trauma" EXACT [] synonym: "Carotid False Aneurysm" EXACT [] synonym: "Carotid False Aneurysms" EXACT [] synonym: "Carotid Pseudoaneurysm" EXACT [] synonym: "Traumatic Carotid Arteriopathy" EXACT [] xref: MESH:D020212 is_a: DOID:3407 ! carotid artery disease is_a: DOID:9001829 ! Cerebrovascular Trauma is_a: DOID:9002056 ! Arterial Injury [Term] id: DOID:9006183 name: Ventriculomegaly and Arthrogryposis def: "A severe autosomal recessive congenital disorder characterized by the onset of features in utero that are not compatible with life. Caused by homozygous mutation in the KIDINS220 gene on chromosome 2p25. (OMIM)" [] synonym: "KIDINS220-RELATED CONDITION" BROAD [] synonym: "VENARG" EXACT [] xref: MIM:619501 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:9009131 ! Ventriculomegaly created_by: mtutaj creation_date: 2021-09-01T15:27:22Z [Term] id: DOID:9006185 name: Schwartz Cohen-Addad Lambert Syndrome synonym: "Congenital melanocytosis with myelomeningocele and hydrocephalus" EXACT [] xref: MESH:C535835 xref: RDO:0001163 is_a: DOID:0060326 ! myelomeningocele is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:9001583 ! Melanosis [Term] id: DOID:9006187 name: Immunodeficiency 84 def: "An autosomal recessive primary immunologic disorder characterized by recurrent sinopulmonary infections from childhood associated with low levels of B cells and impaired early B-cell development. Caused by heterozygous mutation in the IKZF3 gene on chromosome 17q12-q21. (OMIM)" [] synonym: "IMD84" EXACT [] xref: MIM:619437 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-08-04T13:50:41Z [Term] id: DOID:9006188 name: Oro-Facial Gangrene synonym: "Noma neonatorum" EXACT [] synonym: "Oral gangrene" EXACT [] synonym: "Oro-facial noma" EXACT [] xref: MESH:C531760 xref: RDO:0000172 is_a: DOID:9672 ! noma [Term] id: DOID:9006189 name: Premenstrual Dysphoric Disorder def: "A condition in which a woman suffers from severe depression, irritability, and tension before MENSTRUATION. Premenstrual dysphoric disorder (PMDD) may involve a wide range of physical or emotional symptoms, which are more severe and debilitating than those seen with premenstrual syndrome (PMS), and which include at least one mood-related symptom. Symptoms usually stop when, or shortly after, menstruation begins." [MESH:D065446] synonym: "Premenstrual Dysphoric Syndrome" EXACT [] xref: MESH:D065446 xref: RDO:0015973 is_a: DOID:1596 ! depressive disorder is_a: DOID:727 ! premenstrual tension [Term] id: DOID:9006190 name: Chronic Pancreatitis alt_id: RDO:0003066 def: "INFLAMMATION of the PANCREAS that is characterized by recurring or persistent ABDOMINAL PAIN with or without STEATORRHEA or DIABETES MELLITUS. It is characterized by the irregular destruction of the pancreatic parenchyma which may be focal, segmental, or diffuse." [MESH:D050500] synonym: "chronic pancreatitis, susceptibility to" RELATED [] xref: EFO:0000342 xref: MESH:D050500 xref: NCI:C84637 is_a: DOID:4989 ! pancreatitis [Term] id: DOID:9006191 name: Hypoadiponectinemia alt_id: MIM:612556 synonym: "Adiponectin deficiency" EXACT [] synonym: "ADPOD" EXACT [] xref: MESH:C567258 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9006192 name: Oocyte/Zygote/Embryo Maturation Arrest 9 synonym: "Oocyte Maturation Defect 9" EXACT [] synonym: "OOMD9" EXACT [] synonym: "OZEMA9" EXACT [] xref: MIM:619011 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2020-09-09T07:57:53Z [Term] id: DOID:9006193 name: Loeys-Dietz Syndrome, Type 1b xref: MESH:C567181 is_a: DOID:0050466 ! Loeys-Dietz syndrome is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:9006194 name: Complement Component C1s Deficiency alt_id: MIM:613783 synonym: "C1SD" EXACT [] synonym: "C1s Deficiency" EXACT [] synonym: "COMPLEMENT 1S DEFICIENCY" EXACT [] xref: MESH:C565170 xref: RDO:0013893 is_a: DOID:9005411 ! Complement Component C1r/C1s Deficiency [Term] id: DOID:9006195 name: Medullary Carcinomas def: "A carcinoma composed mainly of epithelial elements with little or no stroma. Medullary carcinomas of the breast constitute 5%-7% of all mammary carcinomas; medullary carcinomas of the thyroid comprise 3%-10% of all thyroid malignancies. (From Dorland, 27th ed; DeVita Jr et al., Cancer: Principles & Practice of Oncology, 3d ed, p1141; Segen, Dictionary of Modern Medicine, 1992)" [MESH:D018276] synonym: "Medullary Carcinoma" EXACT [] xref: MESH:D018276 is_a: DOID:1800 ! neuroendocrine carcinoma is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms [Term] id: DOID:9006196 name: Superior Transverse Scapular Ligament, Calcification Of, Familial alt_id: MIM:601708 xref: MESH:C566638 is_a: DOID:573 ! nerve compression syndrome is_a: DOID:9003295 ! Heterotopic Ossification [Term] id: DOID:9006197 name: Charcot Marie Tooth Type 1 Aplasia Cutis Congenita alt_id: MIM:302803 alt_id: RDO:0004010 synonym: "Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita" EXACT [] xref: MESH:C538077 is_a: DOID:10595 ! Charcot-Marie-Tooth disease is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9006199 name: Verloes Gillerot Fryns Syndrome synonym: "Cerebro-Acro-Visceral Early lethality multiplex syndrome" EXACT [] xref: MESH:C536539 xref: RDO:0002152 is_a: DOID:10488 ! imperforate anus is_a: DOID:1059 ! intellectual disability is_a: DOID:1923 ! disorder of sexual development is_a: DOID:225 ! syndrome [Term] id: DOID:9006201 name: Retropneumoperitoneum def: "Pathological or accidental introduction of air into the retroperitoneal space." [MESH:D012188] synonym: "Pneumoretroperitoneum" EXACT [] xref: MESH:D012188 xref: RDO:0006485 is_a: DOID:9001600 ! Wounds and Injuries is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9006202 name: Pruritus def: "An intense itching sensation that produces the urge to rub or scratch the skin to obtain relief." [MESH:D011537] synonym: "Itching" EXACT [] synonym: "Pruritis" EXACT [] xref: MESH:D011537 is_a: DOID:37 ! skin disease is_a: DOID:9007472 ! Skin Manifestations [Term] id: DOID:9006203 name: Manouvrier Syndrome synonym: "Lung agenesis heart defect thumb anomalies" EXACT [] synonym: "Pulmonary aplasia and triphalangia of the thumb" EXACT [] xref: MESH:C535708 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006204 name: Oocyte/Zygote/Embryo Maturation Arrest 19 def: "A oocyte/zygote/embryo maturation arrest caused by homozygous or compound heterozygous mutation in the NLRP5 gene on chromosome 19q13." [] synonym: "OZEMA19" EXACT [] xref: MIM:620333 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2023-04-18T09:37:07Z [Term] id: DOID:9006205 name: Animal Disease Models def: "Naturally-occurring or experimentally-induced animal diseases with pathological processes analogous to human diseases." [MESH:D004195] synonym: "Animal Disease Model" EXACT [] xref: MESH:D004195 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9006206 name: Sjogren-Larsson-like Syndrome alt_id: MIM:270220 synonym: "Sjogren-Larsson-like ichthyosis without CNS or eye involvement" EXACT [] xref: MESH:C536668 is_a: DOID:14501 ! Sjogren-Larsson syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9006207 name: Cerebral Phaeohyphomycosis def: "CNS infections caused by neurotropic dematiaceous fungi that contain melanin in their cell walls. The infections often result in BRAIN ABSCESS; ENCEPHALITIS; and MENINGITIS in patients who are often immunocompetent. The common causative fungi include members Cladophialophora bantiana, Exophiala dermatitidis, Rhinocladiella mackenziei, and Ochroconis gallopavum. R. mackenziei infection is seen almost exclusively in patients from the MIDDLE EAST." [MESH:D060425] synonym: "Central Nervous System Phaeohyphomycosis" EXACT [] synonym: "Cerebral Phaeohyphomycoses" EXACT [] synonym: "Primary Central Nervous System Phaeohyphomycosis" EXACT [] xref: MESH:D060425 is_a: DOID:14049 ! phaeohyphomycosis is_a: DOID:9007316 ! Hyalohyphomycosis [Term] id: DOID:9006209 name: Atlanto-Axial Fusion synonym: "Atlantoaxial Fusion" EXACT [] synonym: "Atlantoaxial joint fusion" EXACT [] xref: MESH:C538196 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9006210 name: Familial Convulsive Disorder with Prenatal or Early Onset alt_id: MIM:217200 xref: MESH:C565678 is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:9007722 ! Myoclonus is_a: DOID:9008941 ! Muscle Hypertonia [Term] id: DOID:9006211 name: NF1 Microduplication Syndrome xref: MESH:C567173 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:8712 ! neurofibromatosis is_a: DOID:9001487 ! Facies [Term] id: DOID:9006212 name: Midphalangeal Hair synonym: "middigital hair" EXACT [] xref: MESH:C537471 xref: MIM:157200 is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9006214 name: Sweating Sickness def: "A clinical condition characterized by fever and profuse sweating and associated with high mortality. It occurred in epidemic form five times in the fifteenth and sixteenth centuries in England, first in 1485 and last in 1551, specially during the summer and early autumn, attacking the relatively affluent adult male population. The etiology was unknown." [MESH:D018614] synonym: "English Sweating Sickness" EXACT [] synonym: "Sudor Anglicus" EXACT [] xref: MESH:D018614 is_a: DOID:9006865 ! Fever of Unknown Origin [Term] id: DOID:9006215 name: Exfoliative Dermatitis def: "The widespread involvement of the skin by a scaly, erythematous dermatitis occurring either as a secondary or reactive process to an underlying cutaneous disorder (e.g., atopic dermatitis, psoriasis, etc.), or as a primary or idiopathic disease. It is often associated with the loss of hair and nails, hyperkeratosis of the palms and soles, and pruritus. (From Dorland, 27th ed)" [MESH:D003873] synonym: "Dermatitis Exfoliativa" EXACT [] synonym: "Erythroderma" EXACT [] synonym: "Erythrodermas" EXACT [] synonym: "Exfoliative Dermatitides" EXACT [] xref: EFO:0009456 xref: MESH:D003873 is_a: DOID:2723 ! dermatitis is_a: DOID:9004383 ! Eczematous Skin Diseases [Term] id: DOID:9006216 name: Acid Phosphatase Deficiency alt_id: MIM:200950 xref: MESH:C562645 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9006217 name: Collagenous Sprue def: "A malabsorption syndrome characterized by collagenous mucosal lesions of the SMALL INTESTINE, atrophy of MICROVILLI, severe malabsorption, diarrhea, and MALNUTRITION often refractory to a gluten-free diet." [MESH:D064068] synonym: "Collagenous Sprues" EXACT [] xref: MESH:D064068 xref: RDO:0015830 is_a: DOID:9002984 ! Malabsorption Syndromes [Term] id: DOID:9006218 name: Masked Hypertension def: "Phenomenon where increased BLOOD PRESSURE readings taken in non-clinical settings (e.g., HOME BLOOD PRESSURE MONITORING) do not replicate in clinical settings." [MESH:D059468] synonym: "Masked Hypertensions" EXACT [] xref: MESH:D059468 xref: RDO:0010021 is_a: DOID:10763 ! hypertension [Term] id: DOID:9006219 name: Avian Leukosis def: "A group of transmissible viral diseases of chickens and turkeys. Liver tumors are found in most forms, but tumors can be found elsewhere." [MESH:D001353] synonym: "Avian Leukoses" EXACT [] synonym: "AVL induced bursal lymphoma" NARROW [] xref: EFO:0005923 xref: MESH:D001353 is_a: DOID:9004441 ! Experimental Leukemia is_a: DOID:9004886 ! Tumor Virus Infections is_a: DOID:9006114 ! Bird Diseases is_a: DOID:9006644 ! Retroviridae Infections [Term] id: DOID:9006220 name: Mirizzi Syndrome def: "Complication of CHOLELITHIASIS characterized by OBSTRUCTIVE JAUNDICE; abdominal pain, and fever." [MESH:D057792] synonym: "Mirizzi's Syndrome" EXACT [] synonym: "Mirizzis Syndrome" EXACT [] xref: MESH:D057792 is_a: DOID:13580 ! cholestasis is_a: DOID:225 ! syndrome [Term] id: DOID:9006221 name: smooth muscle hamartoma def: "This neoplasm is a benign proliferation of mature smooth muscle. It can arise from the arrector pili muscle attached to hair follicles, the dartos muscle in the scrotum, the vascular smooth muscle, or the muscularis mammillae of the areolae. It is a sporadic condition that usually presents as a solitary lesion." [PMID:31424772] synonym: "acquired smooth muscle hamartoma" NARROW [] synonym: "CONGENITAL SMOOTH MUSCLE HAMARTOMA" NARROW [] is_a: DOID:9007253 ! Hamartoma created_by: slaulede creation_date: 2022-04-22T12:34:01Z [Term] id: DOID:9006222 name: Short-Rib Thoracic Dysplasia 16 with or without Polydactyly synonym: "SRTD16" EXACT [] xref: MIM:617102 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:9006223 name: Kidney Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the kidney, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "Kidney Ischemia-Reperfusion Injury" EXACT [] synonym: "Renal Ischemia-Reperfusion Injury" EXACT [] synonym: "Renal Reperfusion Injury" EXACT [] is_a: DOID:3021 ! acute kidney failure is_a: DOID:9004009 ! Reperfusion Injury [Term] id: DOID:9006224 name: Reticular Erythrokeratoderma synonym: "Aarau disease" EXACT [] synonym: "congenital reticular ichthyosiform erythroderma" EXACT [] synonym: "CRIE" EXACT [] synonym: "ichthyosis variegata micropinnae, alopecia universalis, congenital ichthyosis, and ectropion" EXACT [] synonym: "ichthyosis with confetti" EXACT [] synonym: "IWC" EXACT [] synonym: "MAUIE" EXACT [] synonym: "Mauie syndrome" EXACT [] xref: MESH:C563781 xref: MIM:609165 xref: MONDO:0012208 xref: ORDO:281190 is_a: DOID:0060655 ! autosomal recessive congenital ichthyosis [Term] id: DOID:9006225 name: Splenomegaly Syndrome with Splenic Germinal Center Hypoplasia and Reduced Circulating T-Helper Cells alt_id: MIM:183350 xref: MESH:C566666 is_a: DOID:6376 ! hypersplenism is_a: DOID:9002720 ! Splenomegaly [Term] id: DOID:9006226 name: Familial Dermatitis Herpetiformis alt_id: MIM:601230 xref: MESH:C538218 is_a: DOID:8505 ! dermatitis herpetiformis [Term] id: DOID:9006227 name: Congenital Disorder of Glycosylation Type 1O alt_id: MIM:612937 synonym: "CDG1(DPM3)" EXACT [] synonym: "CDG1o" EXACT [] synonym: "CDG Io" EXACT [] synonym: "CDGIo" EXACT [] synonym: "congenital disorder of glycosylation, type Io" EXACT [] synonym: "MDDGC15" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15" EXACT [] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, DPM3-related" EXACT [] xref: MESH:C567857 is_a: DOID:0050570 ! congenital disorder of glycosylation type I is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy [Term] id: DOID:9006228 name: Hermansky-Pudlak Syndrome 10 def: "An autosomal recessive multisystem disorder characterized by infantile onset of immunodeficiency, oculocutaneous albinism, and severe neurologic impairment, including severely delayed global development and intractable seizures. (OMIM)" [] synonym: "AP3D1-RELATED CONDITION" EXACT [] synonym: "HPS10" EXACT [] xref: MIM:617050 is_a: DOID:3753 ! Hermansky-Pudlak syndrome created_by: rgd creation_date: 2017-04-26T00:00:00Z [Term] id: DOID:9006229 name: MUSCULAR DYSTROPHY, CONGENITAL HEARING LOSS, AND OVARIAN INSUFFICIENCY SYNDROME def: "This disease is an autosomal recessive systemic disorder characterized by progressive muscle weakness, sensorineural hearing loss, and endocrine abnormalities, mainly primary amenorrhea due to ovarian insufficiency." [MIM:619518] synonym: "MDHLO" EXACT [] xref: MIM:619518 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:5426 ! primary ovarian insufficiency is_a: DOID:9884 ! muscular dystrophy created_by: slaulede creation_date: 2021-10-21T11:12:35Z [Term] id: DOID:9006230 name: Neurologic Gait Disorders def: "Gait abnormalities that are a manifestation of nervous system dysfunction. These conditions may be caused by a wide variety of disorders which affect motor control, sensory feedback, and muscle strength including: CENTRAL NERVOUS SYSTEM DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; NEUROMUSCULAR DISEASES; or MUSCULAR DISEASES." [MESH:D020233] synonym: "athetotic gait" EXACT [] synonym: "Broadened Gait" EXACT [] synonym: "Charcot's Gait" EXACT [] synonym: "Charcot Gait" EXACT [] synonym: "Charcot Gaits" EXACT [] synonym: "Charcots Gait" EXACT [] synonym: "Drop Foot Gait" EXACT [] synonym: "Duck Gait" EXACT [] synonym: "Festinating Gait" EXACT [] synonym: "Frontal Gait" EXACT [] synonym: "Hemiplegic Gait" EXACT [] synonym: "Hysterical Gait" EXACT [] synonym: "Marche a Petit Pas" EXACT [] synonym: "Neurologic Ambulation Disorder" EXACT [] synonym: "Neurologic Ambulation Disorders" EXACT [] synonym: "Neurologic Gait Disorder" EXACT [] synonym: "Neurologic Gait Dysfunction" EXACT [] synonym: "Neurologic Gait Dysfunctions" EXACT [] synonym: "Neurologic Locomotion Disorder" EXACT [] synonym: "Neurologic Locomotion Disorders" EXACT [] synonym: "Rapid Fatigue of Gait" EXACT [] synonym: "Reeling Gait" EXACT [] synonym: "Rigid Gait" EXACT [] synonym: "Scissors Gait" EXACT [] synonym: "Sensorimotor Gait Disorder" EXACT [] synonym: "Sensorimotor Gait Disorders" EXACT [] synonym: "Shuffling Gait" EXACT [] synonym: "Shuffling Gaits" EXACT [] synonym: "Spastic Gait" EXACT [] synonym: "Stumbling Gait" EXACT [] synonym: "Unsteady Gait" EXACT [] synonym: "widebased gait" EXACT [] xref: MESH:D020233 is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9006231 name: Say Meyer Syndrome alt_id: MIM:314320 synonym: "Trigonocephaly, short stature and developmental delay" EXACT [] synonym: "Trigonocephaly, short stature, and retarded psychomotor development" EXACT [] synonym: "Trigonocephaly with Short Stature and Developmental Delay" EXACT [] xref: MESH:C536620 is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006232 name: Grant Syndrome alt_id: MIM:138930 xref: MESH:C537293 is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006236 name: Harlequin Syndrome synonym: "Sudden onset of unilateral flushing and sweating" EXACT [] synonym: "Unilateral loss of facial flushing and sweating with contralateral anhidrosis" EXACT [] xref: MESH:C535634 is_a: DOID:11155 ! hypohidrosis is_a: DOID:11465 ! autonomic nervous system disease is_a: DOID:225 ! syndrome is_a: DOID:9007763 ! Flushing [Term] id: DOID:9006237 name: Metabolically Benign Obesity def: "A sub-PHENOTYPE of obese individuals who have a risk for CARDIOVASCULAR DISEASES between that of healthy individuals with normal weight and unhealthy individuals with obesity." [MESH:D000067329] synonym: "Metabolically Healthy Obesity" EXACT [] xref: EFO:0009382 xref: MESH:D000067329 is_a: DOID:9970 ! obesity [Term] id: DOID:9006238 name: Neurodevelopmental Disorder with Epilepsy, Spasticity, and Brain Atrophy def: "An autosomal recessive disorder characterized by severely impaired global development apparent soon after birth. Affected individuals develop seizures in the first year of life and achieve almost no psychomotor progress, resulting in feeding difficulties and an inability to walk or speak. Other features include hypotonia, peripheral spasticity with contractures, cortical visual impairment, and dysmorphic features, including microcephaly." [MIM:618741] synonym: "NEDESBA" EXACT [] xref: MIM:618741 is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2020-03-16T15:17:15Z [Term] id: DOID:9006239 name: Alkaptonuric Ochronosis synonym: "Exogenous ochronosis" EXACT [] synonym: "Ocular ochronosis" EXACT [] synonym: "Pseudo-ochronosis" EXACT [] xref: MESH:C531762 is_a: DOID:14223 ! ochronosis is_a: DOID:9270 ! alkaptonuria [Term] id: DOID:9006240 name: Permanent Neonatal Diabetes Mellitus 2 synonym: "DEND1" NARROW [] synonym: "DEVELOPMENTAL DELAY, EPILEPSY, AND NEONATAL DIABETES 1" NARROW [] synonym: "PNDM2" EXACT [] xref: MIM:618856 is_a: DOID:0060639 ! permanent neonatal diabetes mellitus created_by: mtutaj creation_date: 2020-05-01T09:51:06Z [Term] id: DOID:9006241 name: Perniola Krajewska Carnevale Syndrome synonym: "Congenital alopecia, psychomotor retardation, convulsions" EXACT [] synonym: "Neuroectodermosis with alopecia or hypotrichosis" EXACT [] xref: MESH:C536660 is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:225 ! syndrome is_a: DOID:987 ! alopecia [Term] id: DOID:9006242 name: Lattice Corneal Dystrophy, Type IIIA alt_id: MIM:608471 synonym: "CDL3A" EXACT [] synonym: "lattice corneal dystrophy type 3A" EXACT [] xref: MESH:C563923 is_a: DOID:8943 ! lattice corneal dystrophy [Term] id: DOID:9006243 name: Congenital Adrenal Hypoplasia with Absent Pituitary Luteinizing Hormone alt_id: MIM:202150 xref: MESH:C565976 is_a: DOID:0050811 ! congenital adrenal hyperplasia is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:9006244 name: CATARACTS, SPASTIC PARAPARESIS, AND SPEECH DELAY def: "This disease is an autosomal dominant disorder characterized by spastic paraparesis and bilateral congenital/juvenile cataracts." [MIM:619338] synonym: "CSPSD" EXACT [] synonym: "FAR1-RELATED NEURODEVELOPMENTAL DISORDER" BROAD [] xref: MIM:619338 is_a: DOID:83 ! cataract is_a: DOID:9002598 ! Spastic Paraparesis is_a: DOID:9005466 ! Language Development Disorders created_by: slaulede creation_date: 2021-06-10T12:43:47Z [Term] id: DOID:9006245 name: Pavone Fiumara Rizzo Syndrome synonym: "Syndactyly type 1 with cataracts and mental retardation" EXACT [] xref: MESH:C536313 is_a: DOID:1059 ! intellectual disability is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract [Term] id: DOID:9006246 name: Chromosome 3, Monosomy 3p14 p11 synonym: "Deletion 3p14 p11" EXACT [] synonym: "Monosomy 3p14 p11" EXACT [] xref: MESH:C536805 xref: RDO:0002497 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006247 name: Aortic Arch Anomaly with Peculiar Facies and Mental Retardation alt_id: MIM:107500 xref: MESH:C537785 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies [Term] id: DOID:9006248 name: Adrenomyodystrophy alt_id: MIM:300270 xref: MESH:C538051 is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:9006249 name: RADIO-TARTAGLIA SYNDROME def: "This disease is a neurodevelopmental disorder characterized by global developmental delay with impaired intellectual development, speech delay, hypotonia, mild motor difficulties, and craniofacial dysmorphism." [MIM:619312] synonym: "RATARS" EXACT [] xref: MIM:619312 is_a: DOID:1059 ! intellectual disability is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008582 ! Developmental Disease created_by: slaulede creation_date: 2021-06-22T11:05:08Z [Term] id: DOID:9006250 name: Hyperpigmentation of Fuldauer and Kuijpers alt_id: MIM:145200 xref: MESH:C564164 is_a: DOID:9003984 ! Hyperpigmentation [Term] id: DOID:9006251 name: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 1 def: "Thrombocytopenia that progresses to pancytopenia, in association with congenital proximal fusion of the radius and ulna that results in extremely limited pronation and supination of the forearm. (OMIM)" [] synonym: "RUSAT1" EXACT [] xref: MIM:605432 is_a: DOID:9002496 ! Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia created_by: mtutaj creation_date: 2019-03-19T00:00:00Z [Term] id: DOID:9006252 name: Elbow Tendinopathy def: "Inflammation (tendinitis) or degeneration (tendinosis) of the tendons of the elbow." [MESH:D000070639] synonym: "Elbow Tendinopathies" EXACT [] xref: MESH:D000070639 is_a: DOID:971 ! tendinitis [Term] id: DOID:9006253 name: Ketosis def: "A condition characterized by an abnormally elevated concentration of KETONE BODIES in the blood (acetonemia) or urine (acetonuria). It is a sign of DIABETES COMPLICATION, starvation, alcoholism or a mitochondrial metabolic disturbance (e.g., MAPLE SYRUP URINE DISEASE)." [MESH:D007662] synonym: "Acetonemia" EXACT [] synonym: "Acetonemias" EXACT [] synonym: "Acetonuria" EXACT [] synonym: "Acetonurias" EXACT [] synonym: "Ketoacidemia" EXACT [] synonym: "Ketoacidemias" EXACT [] synonym: "Ketoacidoses" EXACT [] synonym: "Ketoacidosis" EXACT [] synonym: "Ketoaciduria" EXACT [] synonym: "Ketoacidurias" EXACT [] synonym: "Ketonemia" EXACT [] synonym: "Ketonemias" EXACT [] synonym: "Ketonuria" EXACT [] synonym: "Ketonurias" EXACT [] synonym: "Metabolic Ketoacidoses" EXACT [] synonym: "Metabolic Ketoacidosis" EXACT [] synonym: "Metabolic Ketoses" EXACT [] synonym: "Metabolic Ketosis" EXACT [] xref: MESH:D007662 xref: RDO:0005934 is_a: DOID:9002802 ! Acidoses [Term] id: DOID:9006254 name: Microcephaly Albinism Digital Anomalies Syndrome alt_id: MIM:203340 xref: MESH:C537322 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9001386 ! Albinism is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006255 name: Sacroiliac Arthritis alt_id: MIM:108100 xref: MESH:C563037 is_a: DOID:848 ! arthritis [Term] id: DOID:9006256 name: Chromosome 6, Trisomy 6p synonym: "Duplication 6p" EXACT [] synonym: "Trisomy 6p" EXACT [] xref: MESH:C537811 xref: RDO:0003715 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9006257 name: Growth Disorders def: "Deviations from the average values for a specific age and sex in any or all of the following: height, weight, skeletal proportions, osseous development, or maturation of features. Included here are both acceleration and retardation of growth." [MESH:D006130] synonym: "Growth Disorder" EXACT [] synonym: "growth retardation" NARROW [] synonym: "retardation of growth" NARROW [] synonym: "Stunted Growth" EXACT [] synonym: "Stunting" EXACT [] xref: MESH:D006130 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9006258 name: Ocular Myopathy with Curare Sensitivity alt_id: MIM:257600 xref: MESH:C564937 is_a: DOID:539 ! ophthalmoplegia [Term] id: DOID:9006259 name: Nonspherocytic Hemolytic Anemia, possibly due to Defect in Porphyrin Metabolism alt_id: MIM:206400 xref: MESH:C565952 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:9006261 name: Distal Trisomy 10q Syndrome synonym: "Chromosome 10, distal trisomy 10q" EXACT [] synonym: "Chromosome 10, Partial Trisomy 10q24-qter" EXACT [] synonym: "Chromosome 10, Trisomy 10q2" EXACT [] synonym: "Distal Duplication 10q" EXACT [] xref: MESH:C538087 xref: RDO:0004021 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9006262 name: Cytomegalovirus Infections def: "Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults." [MESH:D003586] synonym: "Cytomegalic Inclusion Disease" EXACT [] synonym: "Cytomegalic Inclusion Diseases" EXACT [] synonym: "Cytomegalovirus Infection" EXACT [] synonym: "Inclusion Disease" EXACT [] synonym: "Inclusion Diseases" EXACT [] synonym: "Salivary Gland Virus Disease" EXACT [] xref: EFO:0001062 xref: MESH:D003586 is_a: DOID:9002834 ! Herpesviridae Infections [Term] id: DOID:9006263 name: Experimental Pancreatitis def: "Inflammation of the pancreas induced experimentally in laboratory animals." [] is_a: DOID:4989 ! pancreatitis is_a: DOID:9006205 ! Animal Disease Models [Term] id: DOID:9006264 name: Beck-Fahrner Syndrome def: "A developmental disorder characterized by global developmental delay with variably impaired intellectual development." [] synonym: "BEFAHRS" EXACT [] synonym: "TET3 DEFICIENCY" EXACT [] synonym: "TET3-RELATED CONDITION" EXACT [] xref: MIM:618798 is_a: DOID:225 ! syndrome is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2020-06-15T15:55:10Z [Term] id: DOID:9006265 name: Spinal Tuberculoses def: "Osteitis or caries of the vertebrae, usually occurring as a complication of tuberculosis of the lungs." [MESH:D014399] synonym: "Pott's Disease" EXACT [] synonym: "Pott's Paraplegia" EXACT [] synonym: "Pott Disease" EXACT [] synonym: "Potts Disease" EXACT [] synonym: "Spinal Tuberculosis" EXACT [] xref: MESH:D014399 is_a: DOID:1639 ! skeletal tuberculosis is_a: DOID:6590 ! spondylitis [Term] id: DOID:9006266 name: Mink Viral Enteritis def: "A highly contagious parvovirus infection in mink, caused by MINK ENTERITIS VIRUS or the closely related FELINE PANLEUKOPENIA VIRUS or CANINE PARVOVIRUS. Transmission usually occurs by the fecal/oral route." [MESH:D053489] synonym: "Enteritis, Infectious, of Mink" EXACT [] synonym: "Mink Viral Enteritides" EXACT [] xref: MESH:D053489 is_a: DOID:9000331 ! Parvoviridae Infections is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9006268 name: Iliac Aneurysm def: "Abnormal balloon- or sac-like dilatation in the wall of any one of the iliac arteries including the common, the internal, or the external ILIAC ARTERY." [MESH:D017543] synonym: "Iliac Aneurysms" EXACT [] xref: MESH:D017543 is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:9006269 name: Dwarfism, Low-Birth-Weight Type, with Unresponsiveness to Growth Hormone alt_id: MIM:223500 xref: MESH:C565615 is_a: DOID:1059 ! intellectual disability is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9006270 name: Neurodevelopmental Disorder with Craniofacial Dysmorphism and Skeletal Defects def: "A disease characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Caused by heterozygous mutation in the HNRNPH1 gene on chromosome 5q35." [MIM:620083] synonym: "NEDCDS" EXACT [] xref: MIM:620083 is_a: DOID:0080006 ! bone development disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-10-24T08:15:04Z [Term] id: DOID:9006272 name: Microcephaly, Short Stature, and Impaired Glucose Metabolism 2 synonym: "MSSGM2" EXACT [] xref: MIM:616817 is_a: DOID:9008578 ! Microcephaly, Short Stature, and Impaired Glucose Metabolism [Term] id: DOID:9006273 name: Pseudoxanthoma Elasticum, Heterozygous xref: MESH:C566744 xref: RDO:0015011 is_a: DOID:2738 ! pseudoxanthoma elasticum [Term] id: DOID:9006274 name: UV-Sensitive Syndrome 1 alt_id: RDO:0008765 synonym: "UVSS1" EXACT [] xref: MIM:600630 xref: NCI:C173106 is_a: DOID:0060240 ! UV-sensitive syndrome [Term] id: DOID:9006275 name: Adams-Oliver Syndrome 3 synonym: "AOS3" EXACT [] xref: MIM:614814 is_a: DOID:0060227 ! Adams-Oliver syndrome [Term] id: DOID:9006276 name: Congenital Nonspherocytic Hemolytic Anemia 5 synonym: "CNSHA5" EXACT [] synonym: "Nonspherocytic Hemolytic Anemia, due to Hexokinase Deficiency" EXACT [] xref: MIM:235700 xref: MONDO:0009340 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9006277 name: COACH Syndrome 2 synonym: "COACH2" EXACT [] xref: MIM:619111 is_a: DOID:0111589 ! COACH syndrome created_by: mtutaj creation_date: 2020-12-02T10:48:46Z [Term] id: DOID:9006278 name: Bethlem Myopathy 2 alt_id: RDO:9001375 synonym: "BTHLM2" EXACT [] synonym: "COL12A1-RELATED CONDITION" BROAD [] synonym: "EDS, MYOPATHIC TYPE" EXACT [] synonym: "EDSMYP" EXACT [] synonym: "EHLERS-DANLOS SYNDROME, MYOPATHIC TYPE" EXACT [] xref: MIM:616471 is_a: DOID:0050663 ! Bethlem myopathy created_by: rgd creation_date: 2017-02-24T00:00:00Z [Term] id: DOID:9006279 name: Mental Retardation, Buenos Aires Type alt_id: MIM:249630 synonym: "Mutchinick Syndrome" EXACT [] xref: MESH:C563095 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006280 name: Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies alt_id: MIM:611555 synonym: "RENAL TUBULAR ACIDOSIS, DISTAL, WITH NEPHROCALCINOSIS, SHORT STATURE, IMPAIRED INTELLECTUAL DEVELOPMENT, AND DISTINCTIVE FACIES" EXACT [] xref: MESH:C566918 is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:150 ! disease of mental health is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007406 ! Distal Renal Tubular Acidosis [Term] id: DOID:9006281 name: Temporomandibular Joint Disorders def: "A variety of conditions affecting the anatomic and functional characteristics of the temporomandibular joint. Factors contributing to the complexity of temporomandibular diseases are its relation to dentition and mastication and the symptomatic effects in other areas which account for referred pain to the joint and the difficulties in applying traditional diagnostic procedures to temporomandibular joint pathology where tissue is rarely obtained and x-rays are often inadequate or nonspecific. Common diseases are developmental abnormalities, trauma, subluxation, luxation, arthritis, and neoplasia. (From Thoma's Oral Pathology, 6th ed, pp577-600)" [MESH:D013705] synonym: "Temporomandibular Disorder" EXACT [] synonym: "Temporomandibular Disorders" EXACT [] synonym: "Temporomandibular Joint Disease" EXACT [] synonym: "Temporomandibular Joint Diseases" EXACT [] synonym: "Temporomandibular Joint Disorder" EXACT [] synonym: "TMJ Disease" EXACT [] synonym: "TMJ Diseases" EXACT [] synonym: "TMJ Disorder" EXACT [] synonym: "TMJ Disorders" EXACT [] xref: EFO:0005279 xref: MESH:D013705 xref: RDO:0002690 is_a: DOID:381 ! arthropathy is_a: DOID:9001349 ! Stomatognathic Diseases is_a: DOID:9006105 ! Craniomandibular Disorders [Term] id: DOID:9006282 name: Onychotrichodysplasia and Neutropenia alt_id: MIM:258360 synonym: "Onychotrichodysplasia, chronic neutropenia and mental retardation syndrome" EXACT [] xref: MESH:C537752 is_a: DOID:1059 ! intellectual disability is_a: DOID:1227 ! neutropenia is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9006283 name: Syndromic Oculocutaneous Albinism is_a: DOID:0050632 ! oculocutaneous albinism created_by: mtutaj creation_date: 2020-04-22T15:14:18Z [Term] id: DOID:9006284 name: Hypotonia, Congenital Nystagmus, Ataxia and Abnormal Auditory Brainstem Response alt_id: MIM:300184 synonym: "Hypotonia, Congenital Nystagmus, Ataxia, And Abnormal Auditory Brainstem Responses" EXACT [] xref: MESH:C537159 is_a: DOID:3213 ! demyelinating disease is_a: DOID:9004866 ! Ataxia is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:9006285 name: Epidermal Hyperplasia def: "An increase in the number of cells in the epidermis without tumor formation." [] xref: RDO:9000110 is_a: DOID:9002221 ! Hyperplasia [Term] id: DOID:9006286 name: Congenital Muscular Dystrophy, Davignon-Chauveau Type synonym: "Davignon-Chauveau type of congenital muscular dystrophy" EXACT [] synonym: "MDCDC" EXACT [] synonym: "TRIP4-RELATED CONDITION" BROAD [] xref: MIM:617066 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:11724 ! limb-girdle muscular dystrophy [Term] id: DOID:9006287 name: Metaphyseal Dysplasia, Anetoderma, and Optic Atrophy alt_id: MIM:250450 xref: MESH:C565395 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9006392 ! Anetoderma [Term] id: DOID:9006288 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM def: "This disease is a neurodevelopmental disorder characterized by global developmental delay affecting motor, cognitive, and speech domains apparent in early childhood or infancy. Most patients also show movement abnormalities, often hypotonia early in the disease course with later development of dopa-responsive dystonia or parkinsonism" [MIM:619911] synonym: "IDLDP" EXACT [] xref: MIM:619911 is_a: DOID:0060894 ! early-onset Parkinson's disease is_a: DOID:1059 ! intellectual disability is_a: DOID:9005466 ! Language Development Disorders created_by: slaulede creation_date: 2022-12-09T15:10:20Z [Term] id: DOID:9006289 name: Myopia 2 alt_id: MIM:160700 synonym: "MYOPIA 2, AUTOSOMAL DOMINANT" EXACT [] synonym: "MYP2" EXACT [] xref: MESH:C563541 is_a: DOID:11830 ! myopia [Term] id: DOID:9006290 name: Central Nervous System Venous Angioma def: "A vascular anomaly characterized by a radial or wedge-shaped arrangement of dilated VEINS draining into a larger vein in the brain, spinal cord, or the meninges. Veins in a venous angioma are surrounded by normal nervous tissue, unlike a CENTRAL NERVOUS SYSTEM CAVERNOUS HEMANGIOMA that lacks intervening nervous tissue. Drainage of venous angioma is fully integrated with the body's venous system, therefore, in most cases there is no clinical signs and rare bleeding." [MESH:D020787] synonym: "Cerebral Venous Angioma" EXACT [] synonym: "Cerebral Venous Angiomas" EXACT [] synonym: "Intracranial Venous Angioma" EXACT [] synonym: "Intracranial Venous Angiomas" EXACT [] xref: EFO:1001774 xref: MESH:D020787 xref: RDO:0007430 is_a: DOID:255 ! hemangioma is_a: DOID:9003443 ! Central Nervous System Vascular Malformations [Term] id: DOID:9006291 name: Fat Embolism def: "Blocking of a blood vessel by fat deposits in the circulation. It is often seen after fractures of large bones or after administration of CORTICOSTEROIDS." [MESH:D004620] synonym: "Fat Embolisms" EXACT [] synonym: "Fat Embolism Syndrome" EXACT [] xref: MESH:D004620 is_a: DOID:9002522 ! Embolism [Term] id: DOID:9006292 name: Cerebellar Granule Cell Hypertrophy and Megalencephaly alt_id: RDO:0012790 xref: MESH:C563565 is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome is_a: DOID:9005611 ! Malformations of Cortical Development, Group I [Term] id: DOID:9006293 name: Leukemia, Radiation-Induced def: "Leukemia produced by exposure to IONIZING RADIATION or NON-IONIZING RADIATION." [MESH:D007953] synonym: "Radiation-Induced Leukemias" EXACT [] xref: MESH:D007953 is_a: DOID:1240 ! leukemia is_a: DOID:9000111 ! Radiation Injuries is_a: DOID:9000277 ! Radiation-Induced Neoplasms [Term] id: DOID:9006294 name: Congenital Limb Deformities def: "Congenital structural deformities of the upper and lower extremities collectively or unspecified." [MESH:D017880] synonym: "ABNORMAL RADIAL RAY MORPHOLOGY" NARROW [] synonym: "Congenital Limb Deformity" EXACT [] synonym: "Congenital limb malformation" EXACT [] xref: MESH:D017880 is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9006295 name: HEART AND BRAIN MALFORMATION SYNDROME synonym: "HBMS" EXACT [] synonym: "NEDHBM" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH HEART AND BRAIN MALFORMATIONS" EXACT [] xref: MIM:616920 is_a: DOID:10629 ! microphthalmia is_a: DOID:1681 ! heart septal defect is_a: DOID:225 ! syndrome is_a: DOID:9006534 ! Nervous System Malformations is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9006296 name: Lofgren’s syndrome def: "This disease is an acute form of sarcoidosis characterized by erythema nodosum, bilateral hilar lymphadenopathy and polyarthralgia or polyarthritis." [EFO:0009466] synonym: "Bilateral hilar lymph node sarcoidosis with erythema nodosum" EXACT [] synonym: "Erythema nodosum with bilateral hilar lymph node sarcoidosis" EXACT [] synonym: "Loefgren’s syndrome" EXACT [] synonym: "Lofgrens syndrome" EXACT [] synonym: "LS" EXACT [] synonym: "Löfgren’s syndrome" EXACT [] xref: EFO:0009466 is_a: DOID:0080750 ! erythema nodosum is_a: DOID:13406 ! pulmonary sarcoidosis is_a: DOID:381 ! arthropathy is_a: DOID:9004150 ! Lymphadenopathy created_by: slaulede creation_date: 2023-01-05T11:12:47Z [Term] id: DOID:9006297 name: Hydatidiform Mole, Recurrent, 2 synonym: "complete hydatidiform mole" BROAD [] synonym: "HYDM2" EXACT [] xref: MIM:614293 is_a: DOID:9005147 ! Hydatidiform Mole [Term] id: DOID:9006298 name: Stankiewicz-Isidor Syndrome def: "A neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems." [MIM:617516] synonym: "STISS" EXACT [] xref: MIM:617516 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-07-12T00:00:00Z [Term] id: DOID:9006299 name: Mental Retardation, Autosomal Recessive 42 synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 9" EXACT [] synonym: "GPIBD9" EXACT [] synonym: "MRT42" EXACT [] synonym: "NEDDSBA" EXACT [] synonym: "neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities" EXACT [] xref: MIM:615802 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency [Term] id: DOID:9006300 name: Cochleosaccular Degeneration of the Inner Ear and Progressive Cataracts alt_id: MIM:120040 synonym: "Cochleosaccular Degeneration" EXACT [] synonym: "Cochleosaccular Degeneration of the Inner Ear with Progressive Cataracts" EXACT [] xref: MESH:C536432 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:83 ! cataract [Term] id: DOID:9006301 name: HEPATORENOCARDIAC DEGENERATIVE FIBROSIS def: "This is a primarily fibrotic disease affecting the liver, kidney, and heart. Affected individuals develop degenerative hepatic fibrosis in childhood or early adulthood, with later onset of fibrocystic kidney disease and hypertrophic cardiomyopathy." [MIM:619902] synonym: "HRCDF" EXACT [] xref: MIM:619902 is_a: DOID:0050855 ! renal fibrosis is_a: DOID:5082 ! liver cirrhosis is_a: DOID:9003139 ! Cardiac Fibrosis created_by: slaulede creation_date: 2022-07-29T11:17:37Z [Term] id: DOID:9006302 name: Binge Drinking def: "Drinking an excessive amount of ALCOHOLIC BEVERAGES in a short period of time." [MESH:D063425] xref: MESH:D063425 xref: RDO:0012117 is_a: DOID:9004354 ! Alcohol-Related Disorders [Term] id: DOID:9006303 name: Familial Hyperaldosteronism, Type II alt_id: MIM:605635 synonym: "FH II" EXACT [] synonym: "HALD2" EXACT [] xref: MESH:C565312 is_a: DOID:446 ! primary hyperaldosteronism [Term] id: DOID:9006304 name: Cutaneous Hyperthermia with Headaches and Nausea alt_id: MIM:145590 synonym: "Farmer Syndrome" EXACT [] xref: MESH:C564156 is_a: DOID:9000053 ! Headache is_a: DOID:9004751 ! Nausea is_a: DOID:9006865 ! Fever of Unknown Origin [Term] id: DOID:9006305 name: Tetraphocomelia-Thrombocytopenia Syndrome xref: MESH:C564771 xref: RDO:0013623 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9006306 name: Apical Hypertrophic Cardiomyopathy def: "A hypertrophic cardiomyopathy characterized by apical hypertrophy, typically LEFT VENTRICULAR HYPERTROPHY (described as \"ace of spades\" sign), and deep T-wave inversions in EKG. Clinical symptoms include minor symptoms such as CHEST PAIN; DYSPNEA; and SYNCOPE to more complex symptoms such as ATRIAL FIBRILLATION; VENTRICULAR FIBRILLATION; MYOCARDIAL INFARCTION and CONGESTIVE HEART FAILURE. A transient left ventricular apical hypertrophy is sometimes associated with TAKOTSUBO CARDIOMYOPATHY." [] synonym: "Apical Hypertrophic Cardiomyopathies" EXACT [] synonym: "Apical-Variant HCM" EXACT [] synonym: "Left Ventricular Apical Hypertrophic Cardiomyopathy" EXACT [] xref: MESH:D000092183 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy created_by: mtutaj creation_date: 2022-12-12T14:20:05Z [Term] id: DOID:9006307 name: Dysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas alt_id: MIM:127820 synonym: "Maroteaux-Le Merrer-Bensahel syndrome" EXACT [] synonym: "Osteochondromatosis, Dominant Carpotarsal" EXACT [] xref: GARD:1128 xref: MESH:C565076 xref: MONDO:0007490 xref: ORDO:2767 is_a: DOID:206 ! hereditary multiple exostoses is_a: DOID:9007526 ! Dysplasia Epiphysealis Hemimelica [Term] id: DOID:9006308 name: Spinal Cord Vascular Diseases def: "Pathological processes involving any of the BLOOD VESSELS feeding the SPINAL CORD, such as the anterior and paired posterior spinal arteries or their many branches. Disease processes may include ATHEROSCLEROSIS; EMBOLISM; and ARTERIOVENOUS MALFORMATIONS leading to ISCHEMIA or HEMORRHAGE into the spinal cord (hematomyelia)." [MESH:D020758] synonym: "Hematomyelia" EXACT [] synonym: "Hematomyelias" EXACT [] synonym: "Posterior Spinal Artery Syndrome" EXACT [] xref: MESH:D020758 xref: RDO:0007424 is_a: DOID:178 ! vascular disease is_a: DOID:319 ! spinal cord disease [Term] id: DOID:9006309 name: Mandibular Diseases def: "Diseases involving the MANDIBLE." [MESH:D008336] synonym: "Mandibular Disease" EXACT [] xref: MESH:D008336 is_a: DOID:9003876 ! Jaw Diseases [Term] id: DOID:9006310 name: Atrial Septal Defect Ostium Primum xref: MESH:C548006 is_a: DOID:1882 ! atrial heart septal defect [Term] id: DOID:9006311 name: Lipoblastoma def: "Benign tumors of fatty tissues found in infancy and childhood. It is associated chromosomal aberrations that result in activation of an oncogene on chromosome band 8q12." [MESH:D062689] synonym: "Lipoblastomas" EXACT [] synonym: "Lipoblastomatoses" EXACT [] synonym: "Lipoblastomatosis" EXACT [] xref: MESH:D062689 xref: RDO:0012106 is_a: DOID:3315 ! lipoma [Term] id: DOID:9006312 name: Goniodysgenesis-Mental Retardation-Short Stature Syndrome alt_id: MIM:138770 synonym: "GMS Syndrome" EXACT [] xref: MESH:C564214 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9006314 name: Bent Bone Dysplasia Syndrome synonym: "BBDS" EXACT [] synonym: "Bent Bone Dysplasia" EXACT [] synonym: "familial bent bone dysplasia syndrome" RELATED [] xref: MIM:PS614592 xref: MONDO:0031615 is_a: DOID:0080005 ! bone remodeling disease is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome created_by: mtutaj creation_date: 2022-10-17T08:03:21Z [Term] id: DOID:9006315 name: Stupor def: "A state of reduced sensibility and response to stimuli which is distinguished from COMA in that the person can be aroused by vigorous and repeated stimulation. The person is still conscious and can make voluntary movements. It can be induced by CENTRAL NERVOUS SYSTEM AGENTS. The word derives from Latin stupere and is related to stunned, stupid, dazed or LETHARGY." [MESH:D053608] synonym: "Narcosis" EXACT [] xref: MESH:D053608 is_a: DOID:9007650 ! Unconsciousness [Term] id: DOID:9006316 name: Spinocerebellar Ataxia 27A synonym: "SCA27A" EXACT [] synonym: "spinocerebellar ataxia type 27A" EXACT [] xref: MIM:193003 is_a: DOID:0050976 ! spinocerebellar ataxia type 27 created_by: mtutaj creation_date: 2023-01-04T13:28:31Z [Term] id: DOID:9006317 name: Dykes Markes Harper Syndrome alt_id: MIM:242520 synonym: "Ichthyosis, hepatosplenomegaly, and cerebellar degeneration" EXACT [] synonym: "Ichthyosis hepatosplenomegaly cerebellar degeneration" EXACT [] xref: MESH:C535727 is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:2786 ! cerebellar disease is_a: DOID:9002720 ! Splenomegaly is_a: DOID:9005369 ! Hepatomegaly [Term] id: DOID:9006318 name: Hereditary Nonpolyposis Colorectal Cancer Type 3 alt_id: RDO:0013083 synonym: "HNPCC3" EXACT [] xref: MESH:C563972 is_a: DOID:3883 ! Lynch syndrome [Term] id: DOID:9006319 name: Swine Erysipelas def: "An acute and chronic contagious disease of young pigs caused by Erysipelothrix insidiosa." [MESH:D013554] xref: MESH:D013554 is_a: DOID:9006691 ! Erysipelothrix Infections is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9006320 name: Medial Medullary Syndrome xref: MESH:C536134 xref: RDO:0001581 is_a: DOID:225 ! syndrome is_a: DOID:3523 ! brain stem infarction [Term] id: DOID:9006323 name: Myopathy with Lactic Acidosis, Hereditary alt_id: RDO:0013750 def: "Hereditary myopathy with lactic acidosis is an autosomal recessive muscular disorder characterized by childhood onset of exercise intolerance with muscle tenderness, cramping, dyspnea, and palpitations. Biochemical features include lactic acidosis and, rarely, rhabdomyolysis. It is a chronic disorder with remission and exacerbation of the muscle phenotype. yopathy with lactic acidosis, also known as Swedish type myopathy with exercise intolerance, is caused by homozygous or compound heterozygous mutation in the ISCU gene, encoding the iron-sulfur cluster scaffold protein, on chromosome 12q24. (OMIM)" [] synonym: "HML" EXACT [] synonym: "Iron-Sulfur Cluster Deficiency Myopathy" EXACT [] synonym: "Myoglobinuria due to Abnormal Glycolysis" EXACT [] synonym: "Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme" EXACT [] synonym: "Myopathy with Deficiency of ISCU" EXACT [] synonym: "Myopathy with Deficiency of Succinate Dehydrogenase and Aconitase" EXACT [] synonym: "Myopathy with Exercise Intolerance, Swedish Type" EXACT [] xref: MESH:C564972 xref: MIM:255125 is_a: DOID:0080000 ! muscular disease is_a: DOID:3650 ! lactic acidosis [Term] id: DOID:9006324 name: Isolated Growth Hormone Deficiency, Partial alt_id: MIM:615925 synonym: "GHDP" EXACT [] synonym: "short stature due to growth hormone secretagogue receptor deficiency" EXACT [] is_a: DOID:0060870 ! isolated growth hormone deficiency created_by: slaulede creation_date: 2020-01-17T12:59:02Z [Term] id: DOID:9006325 name: Ventral Hernia def: "A hernia caused by weakness of the anterior ABDOMINAL WALL due to midline defects, previous incisions, or increased intra-abdominal pressure. Ventral hernias include UMBILICAL HERNIA, incisional, epigastric, and spigelian hernias." [MESH:D006555] synonym: "Ventral Hernias" EXACT [] xref: MESH:D006555 is_a: DOID:9004681 ! Abdominal Hernia [Term] id: DOID:9006327 name: Bone Marrow Failure Syndrome 4 def: "Autosomal recessive disorder characterized by early-onset anemia, leukopenia, and decreased B cells, resulting in the necessity for red cell transfusion and sometimes causing an increased susceptibility to infection. (OMIM)" [] synonym: "BMFS4" EXACT [] synonym: "MYSM1-RELATED CONDITION" EXACT [] xref: MIM:618116 is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes created_by: mtutaj creation_date: 2019-03-15T00:00:00Z [Term] id: DOID:9006328 name: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED def: "This disease is an X-linked recessive disorder with onset of symptoms in infancy or early childhood. Affected individuals present with highly variable symptoms. Laboratory studies are consistent with immune dysregulation, including altered B-cell subsets and variably elevated proinflammatory cytokines. Detailed functional studies of platelets, red cells, and T lymphocytes suggest that abnormal actin cytoskeleton remodeling is a basic defect, indicating that this disorder can be classified as an immune-related actinopathy." [MIM:301109] synonym: "ADMIDX" EXACT [] synonym: "DOCK11 DEFICIENCY" EXACT [] synonym: "INBORN ERROR OF HEMATOPOIESIS AND IMMUNITY WITH SYSTEMIC INFLAMMATION AND NORMOCYTIC ANEMIA" EXACT [] synonym: "X-linked multisystem autoinflammatory disease with immune dysregulation" EXACT [] xref: MIM:301109 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: slaulede creation_date: 2023-08-08T11:56:23Z [Term] id: DOID:9006329 name: Paralytic Ectropion def: "Eversion of the EYELID caused by paralysis of the FACIAL NERVE or palsy from loss of MUSCLE TONUS of the orbicularis oculi." [] xref: MESH:C000721269 is_a: DOID:1570 ! ectropion is_a: DOID:1756 ! facial nerve disease created_by: mtutaj creation_date: 2022-12-12T13:00:46Z [Term] id: DOID:9006331 name: Neurodevelopmental Disorder with Microcephaly, Impaired Language, and Gait Abnormalities def: "An autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly." [MIM:619091] synonym: "NEDMILG" EXACT [] synonym: "Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive" EXACT [] xref: MIM:619091 is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006230 ! Neurologic Gait Disorders is_a: DOID:93 ! language disorder created_by: slaulede creation_date: 2021-01-18T13:30:30Z [Term] id: DOID:9006332 name: Vascular Calcification def: "Deposition of calcium into the blood vessel structures. Excessive calcification of the vessels are associated with ATHEROSCLEROTIC PLAQUES formation particularly after MYOCARDIAL INFARCTION (see MONCKEBERG MEDIAL CALCIFIC SCLEROSIS) and chronic kidney diseases which in turn increase VASCULAR STIFFNESS." [MESH:D061205] synonym: "Vascular Calcifications" EXACT [] synonym: "Vascular Calcinoses" EXACT [] synonym: "Vascular Calcinosis" EXACT [] xref: MESH:D061205 xref: RDO:0009968 is_a: DOID:182 ! calcinosis [Term] id: DOID:9006333 name: Junctional Epidermolysis Bullosa 7, with Interstitial Lung Disease and Nephrotic Syndrome def: "An autosomal recessive multiorgan disorder that includes congenital interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. Caused by homozygous mutation in the ITGA3 gene on chromosome 17q21." [MIM:614748] synonym: "ILNEB" EXACT [] synonym: "interstitial lung disease, nephrotic syndrome, and congenital epidermolysis bullosa" EXACT [] synonym: "JEB7" EXACT [] xref: MIM:614748 is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:3082 ! interstitial lung disease is_a: DOID:3209 ! junctional epidermolysis bullosa [Term] id: DOID:9006334 name: Wandering Spleen def: "A congenital or acquired condition in which the SPLEEN is not in its normal anatomical position but moves about in the ABDOMEN. This is due to laxity or absence of suspensory ligaments which normally provide peritoneal attachments to keep the SPLEEN in a fixed position. Clinical symptoms include ABDOMINAL PAIN, splenic torsion and ISCHEMIA." [MESH:D050805] synonym: "Displaced Spleen" EXACT [] synonym: "Displaced Spleens" EXACT [] synonym: "Drifting Spleen" EXACT [] synonym: "Drifting Spleens" EXACT [] synonym: "Floating Spleen" EXACT [] synonym: "Floating Spleens" EXACT [] synonym: "Splenic Ptoses" EXACT [] synonym: "Splenic Ptosis" EXACT [] synonym: "Splenoptoses" EXACT [] synonym: "Splenoptosis" EXACT [] synonym: "Wandering Spleens" EXACT [] xref: MESH:D050805 is_a: DOID:2529 ! splenic disease [Term] id: DOID:9006335 name: Thyrotropin-Releasing Hormone Deficiency synonym: "HYPOTHALAMIC HYPOTHYROIDISM" EXACT [] synonym: "TRH DEFICIENCY" EXACT [] xref: MIM:275120 xref: RDO:0010111 is_a: DOID:1459 ! hypothyroidism is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9006336 name: Hemolytic Anemia with Thermal Sensitivity of Red Cells alt_id: MIM:235370 xref: MESH:C565522 is_a: DOID:583 ! hemolytic anemia [Term] id: DOID:9006337 name: Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, and Obesity Syndrome alt_id: MIM:612469 synonym: "Chromosome 11p13-P12 Deletion Syndrome" EXACT [] synonym: "WAGRO" EXACT [] synonym: "WAGRO Syndrome" EXACT [] synonym: "WAGR Syndrome With Obesity" EXACT [] xref: MESH:C567292 is_a: DOID:14515 ! WAGR syndrome is_a: DOID:9970 ! obesity [Term] id: DOID:9006338 name: Trigeminal Autonomic Cephalalgias def: "Primary headache disorders that show symptoms caused by the activation of the AUTONOMIC NERVOUS SYSTEM of the TRIGEMINAL NERVE. These autonomic features include redness and tearing of the EYE, nasal congestion or discharge, facial SWEATING and other symptoms. Most subgroups show unilateral cranial PAIN." [MESH:D051303] synonym: "Trigeminal Autonomic Cephalalgia" EXACT [] xref: MESH:D051303 xref: RDO:0005226 is_a: DOID:9001144 ! Primary Headache Disorders [Term] id: DOID:9006339 name: Mehta Lewis Patton Syndrome synonym: "Congenital heart disease, ptosis, hypodontia, and craniosynostosis" EXACT [] xref: MESH:C536147 is_a: DOID:0060260 ! ptosis is_a: DOID:13714 ! anodontia is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9006340 name: Pheochromocytoma Islet Cell Tumor Syndrome alt_id: MIM:171420 xref: MESH:C566807 is_a: DOID:0050771 ! pheochromocytoma is_a: DOID:1793 ! pancreatic cancer is_a: DOID:225 ! syndrome [Term] id: DOID:9006341 name: C1q Deficiency 2 def: "A C1q deficiency caused by homozygous mutation in the C1QB gene on chromosome 1p36." [MIM:620321] synonym: "C1QD2" EXACT [] xref: MIM:620321 is_a: DOID:9007516 ! C1q Deficiency created_by: mtutaj creation_date: 2023-04-14T09:04:17Z [Term] id: DOID:9006342 name: Tessadori-van Haaften Neurodevelopmental Syndrome 4 def: "Characterized by global developmental delay with poor overall growth, variably impaired intellectual development, learning difficulties, distal skeletal anomalies, and dysmorphic facies. Caused by heterozygous mutation in the H4C9 gene on chromosome 6p21." [MIM:619951] synonym: "TEVANED4" EXACT [] xref: MIM:619951 is_a: DOID:9008554 ! Tessadori-van Haaften Neurodevelopmental Syndrome created_by: mtutaj creation_date: 2022-07-18T10:53:08Z [Term] id: DOID:9006344 name: Neurodevelopmental Disorder and Language Delay with or Without Structural Brain Abnormalities def: "Neurodevelopmental disorder and language delay with or without structural brain abnormalities (NEDLBA) is characterized by global developmental delay apparent from infancy. The phenotype is highly variable: patients may have hypotonia, behavioral abnormalities, and abnormalities on brain imaging, including enlarged ventricles, thin corpus callosum, and sometimes small brainstem. Many develop seizures, sometimes refractory, and some may have nonspecific dysmorphic features. Intellectual impairment can vary from mild to profound, and some patients may benefit from special education and respond well to speech therapy. NEDLBA is caused by heterozygous mutation in the PPP2CA gene on chromosome 5q31. (OMIM)" [] synonym: "NEDLBA" EXACT [] xref: MIM:618354 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9006534 ! Nervous System Malformations created_by: gthayman creation_date: 2019-03-14T00:00:00Z [Term] id: DOID:9006345 name: Bovine Respiratory Disease Complex def: "A multifactorial disease of CATTLE resulting from complex interactions between environmental factors, host factors, and pathogens. The environmental factors act as stressors adversely affecting the IMMUNE SYSTEM and other host defenses and enhancing transmission of infecting agents." [MESH:D048090] xref: EFO:0007180 xref: MESH:D048090 is_a: DOID:9004723 ! Cattle Diseases is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:9006346 name: Steatocystoma Multiplex with Natal Teeth alt_id: MIM:184510 synonym: "Natal teeth and steatocystoma multiplex" EXACT [] xref: MESH:C537487 is_a: DOID:0111556 ! steatocystoma multiplex is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9006347 name: Skeletal Defects, Genital Hypoplasia, And Mental Retardation alt_id: MIM:612447 synonym: "SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT [] xref: MESH:C567306 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11383 ! cryptorchidism [Term] id: DOID:9006348 name: Total Anonychia with Microcephaly alt_id: MIM:607214 xref: MESH:C564606 is_a: DOID:10907 ! microcephaly is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9006349 name: Fusobacteriaceae Infections def: "Infections with bacteria of the family Fusobacteriaceae, in the order Fusobacterales, phylum FUSOBACTERIA." [MESH:D045825] synonym: "Fusobacteriaceae Infection" EXACT [] synonym: "Fusobacteriaceae infectious disease" EXACT [] synonym: "primary Fusobacteriaceae infectious disease" EXACT [] xref: EFO:1001126 xref: MESH:D045825 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9006350 name: Baby Rattle Pelvic Dysplasia xref: MESH:C537794 xref: RDO:0003698 is_a: DOID:4480 ! achondroplasia [Term] id: DOID:9006351 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES synonym: "NEDMIBA" EXACT [] xref: MIM:618492 is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2019-09-16T12:25:25Z [Term] id: DOID:9006352 name: Benign Familial Hematuria 1 def: "A benign familial hematuria caused by heterozygous mutation in the COL4A4 gene on chromosome 2q36." [MIM:141200] synonym: "BFH1" EXACT [] synonym: "COL4A4-RELATED CONDITION" BROAD [] xref: MIM:141200 is_a: DOID:0111365 ! benign familial hematuria created_by: mtutaj creation_date: 2023-04-14T08:59:31Z [Term] id: DOID:9006353 name: Congenital Hypertrichosis Lanuginosa alt_id: MIM:145700 synonym: "Hypertrichosis lanuginosa congenita" EXACT [] synonym: "Hypertrichosis lanuginosa universalis" EXACT [] synonym: "Hypertrichosis universalis" EXACT [] xref: MESH:C538389 xref: RDO:0004365 is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9006354 name: Colon Inflammatory Polyp def: "This is a non-neoplastic polypoid lesion in the colon. It may arise in a background of inflammatory bowel disease or colitis. It is characterized by the presence of a distorted epithelium, inflammation, and fibrosis." [NCI:C5517] synonym: "colonic inflammatory polyp" EXACT [] xref: EFO:1000184 is_a: DOID:5353 ! colonic disease is_a: DOID:9004271 ! Colonic Polyps created_by: slaulede creation_date: 2022-10-07T15:01:25Z [Term] id: DOID:9006356 name: Spinal Neoplasms def: "New abnormal growth of tissue in the SPINE." [MESH:D013125] synonym: "Spinal Neoplasm" EXACT [] xref: MESH:D013125 is_a: DOID:0060564 ! spinal disease is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:9006357 name: UV-Sensitive Syndrome 3 alt_id: RDO:9000850 synonym: "UVSS3" EXACT [] xref: MIM:614640 xref: NCI:C173107 is_a: DOID:0060240 ! UV-sensitive syndrome [Term] id: DOID:9006358 name: Postoperative Cognitive Dysfunction alt_id: DOID:9000228 def: "A short-term decline in cognitive function (especially in memory and thinking) that may last from a few days to a few weeks after major surgery." [] synonym: "Agitated Emergence" EXACT [] synonym: "Agitations, Emergence" EXACT [] synonym: "Anesthesia Emergence Delirium" EXACT [] synonym: "Emergence Agitation" EXACT [] synonym: "Emergence Delirium" EXACT [] synonym: "Emergence Excitement" EXACT [] synonym: "POCD" EXACT [] synonym: "Postanesthetic Excitement" EXACT [] synonym: "postoperative confusion" EXACT [] synonym: "Post-Operative Delirium" EXACT [] synonym: "postoperative delirium" EXACT [] xref: EFO:0009954 xref: MESH:D000071257 is_a: DOID:8645 ! subacute delirium is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9006359 name: Vitamin D Deficiency def: "A nutritional condition produced by a deficiency of VITAMIN D in the diet, insufficient production of vitamin D in the skin, inadequate absorption of vitamin D from the diet, or abnormal conversion of vitamin D to its bioactive metabolites. It is manifested clinically as RICKETS in children and OSTEOMALACIA in adults. (From Cecil Textbook of Medicine, 19th ed, p1406)" [MESH:D014808] synonym: "Vitamin D Deficiencies" EXACT [] xref: EFO:0003762 xref: MESH:D014808 is_a: DOID:9004644 ! Avitaminosis [Term] id: DOID:9006360 name: Paragangliomas with Sensorineural Hearing Loss synonym: "Paragangliomas 1, with or without deafness" EXACT [] synonym: "PARAGANGLIOMAS 1 WITH SENSORINEURAL HEARING LOSS" EXACT [] xref: MESH:C566831 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9002199 ! Paragangliomas 1 [Term] id: DOID:9006361 name: Macrocephaly Mesodermal Hamartoma Spectrum synonym: "Elattoproteus syndrome" EXACT [] synonym: "Hemihypertrophy and macrocephaly" EXACT [] synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, and macrocephaly" EXACT [] synonym: "partial gigantism of hands and feet, nevi, hemihypertrophy, macrocephaly" EXACT [] xref: MESH:C537716 is_a: DOID:13482 ! Proteus syndrome [Term] id: DOID:9006362 name: C6 Deficiency, Subtotal synonym: "Complement Component 6 Deficiency, Subtotal" EXACT [] xref: MESH:C567308 xref: RDO:0015417 is_a: DOID:9002174 ! Disease Susceptibility [Term] id: DOID:9006363 name: Congenital Thrombotic Disease, due to Protein C Deficiency synonym: "hereditary thrombophilia, due to pc deficiency" EXACT [] synonym: "PROC deficiency" RELATED [] synonym: "REDUCED PROTEIN C ACTIVITY" RELATED [] xref: MESH:C535424 is_a: DOID:3756 ! protein C deficiency [Term] id: DOID:9006364 name: Hereditary Autoinflammatory Diseases def: "Hereditary inflammation conditions, characterized by recurrent episodes of systemic inflammation. Common symptoms include recurrent fever, rash, arthritis, fatigue, and secondary AMYLOIDOSIS. Hereditary autoinflammatory diseases are associated with mutations in genes involved in regulation of normal inflammatory process and are not caused by AUTOANTIBODIES, or antigen specific T-LYMPHOCYTES." [MESH:D056660] synonym: "hereditary autoinflammation disease" EXACT [] synonym: "hereditary autoinflammation diseases" EXACT [] synonym: "hereditary autoinflammatory disease" EXACT [] synonym: "hereditary periodic fever syndromes" EXACT [] synonym: "hereditary recurrent fever" EXACT [] synonym: "hereditary recurrent fevers" EXACT [] synonym: "Reimann periodic disease" EXACT [] synonym: "Siegal Cattan Mamou disease" EXACT [] xref: MESH:D056660 is_a: DOID:9005372 ! Inflammation is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9006366 name: Cataract 50 with or without Glaucoma def: "A pediatric or early-onset cataract, with more than half of affected individuals exhibiting high-tension glaucoma. Caused by heterozygous mutation in the TRPM3 gene on chromosome 9q21." [MIM:620253] synonym: "CTRCT50" EXACT [] xref: MIM:620253 is_a: DOID:1686 ! glaucoma is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2023-02-20T15:37:34Z [Term] id: DOID:9006367 name: Radial Defect Robin Sequence synonym: "Bilateral radial defects, club foot deformity, micrognathia and cleft palate" EXACT [] synonym: "Bruce winship syndrome" EXACT [] xref: MESH:C536261 is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006368 name: Cutaneous Photosensitivity and Colitis, Lethal alt_id: MIM:219095 synonym: "Early cutaneous photosensitivity and severe colitis" EXACT [] xref: MESH:C536224 is_a: DOID:0060180 ! colitis is_a: DOID:3159 ! photosensitivity disease [Term] id: DOID:9006370 name: Spastic Paraplegia and Evans Syndrome alt_id: MIM:601608 xref: MESH:C566652 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:718 ! autoimmune hemolytic anemia [Term] id: DOID:9006371 name: Hidradenocarcinoma def: "This is a carcinoma with apocrine and less often eccrine differentiation, arising from the sweat glands. It usually presents as a solitary slow growing nodule in the dermis or subcutaneous tissues. It is characterized by a nodular growth pattern and it is often associated with necrotic changes." [NCI:C54664] synonym: "clear cell eccrine carcinoma" EXACT [] xref: EFO:1000295 xref: MONDO:0006245 is_a: DOID:5667 ! sweat gland carcinoma created_by: slaulede creation_date: 2023-01-06T11:56:55Z [Term] id: DOID:9006372 name: Animal Helminthiasis def: "Infestation of animals with parasitic worms of the helminth class. The infestation may be experimental or veterinary." [MESH:D006374] synonym: "Animal Helminthiases" EXACT [] xref: MESH:D006374 is_a: DOID:883 ! parasitic helminthiasis infectious disease is_a: DOID:9006645 ! Parasitic Diseases, Animal [Term] id: DOID:9006373 name: Hereditary Sensory and Autonomic Neuropathy, Adult-Onset, with Anosmia xref: MESH:C563870 xref: MIM:608720 xref: MONDO:0012107 is_a: DOID:0050548 ! hereditary sensory neuropathy is_a: DOID:9004147 ! Anosmia [Term] id: DOID:9006374 name: Postmortem Changes def: "Physiological changes that occur in bodies after death." [MESH:D011180] synonym: "Adipocere" EXACT [] synonym: "Algor Mortis" EXACT [] synonym: "Cruor" EXACT [] synonym: "Livor Mortis" EXACT [] synonym: "Postmortem Change" EXACT [] xref: MESH:D011180 is_a: DOID:9002290 ! Cadaver [Term] id: DOID:9006375 name: Amish Lethal Microcephaly alt_id: MIM:607196 synonym: "Amish microcephaly" EXACT [] synonym: "MCPHA" EXACT [] synonym: "microcephaly, Amish type" EXACT [] synonym: "thiamine metabolism dysfunction syndrome 3 (microcephaly type)" EXACT [] synonym: "THMD3" EXACT [] xref: MESH:C538247 is_a: DOID:10907 ! microcephaly [Term] id: DOID:9006376 name: Cryofibrinogenemia xref: MESH:C536218 is_a: DOID:2917 ! cryoglobulinemia [Term] id: DOID:9006377 name: Mosaic Variegated Aneuploidy Syndrome 5 def: "An autosomal recessive neurodevelopmental disorder characterized by global developmental delay with learning difficulties and poor overall growth with short stature and microcephaly. Caused by homozygous or compound heterozygous mutation in the SLF2 gene on chromosome 10q24." [MIM:620184] synonym: "Atelis syndrome 1" EXACT [] synonym: "ATELS1" EXACT [] synonym: "MVA5" EXACT [] synonym: "POOR GROWTH, MICROCEPHALY, DEVELOPMENTAL DELAY, AND ANEMIA" EXACT [] xref: MIM:620184 is_a: DOID:0080688 ! mosaic variegated aneuploidy syndrome is_a: DOID:10907 ! microcephaly is_a: DOID:2355 ! anemia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2023-01-10T08:37:10Z [Term] id: DOID:9006378 name: Facial Hemihypertrophy alt_id: MIM:133900 synonym: "Facial Asymmetry" EXACT [] synonym: "Hemifacial Hyperplasia" EXACT [] synonym: "Hemifacial Hypertrophy" EXACT [] xref: MESH:C563014 is_a: DOID:9002221 ! Hyperplasia is_a: DOID:9008797 ! Facial Asymmetry [Term] id: DOID:9006379 name: Follicular Cyst def: "Cyst due to the occlusion of the duct of a follicle or small gland." [MESH:D005497] synonym: "Follicular Cysts" EXACT [] xref: EFO:1001329 xref: MESH:D005497 xref: RDO:0002171 is_a: DOID:9007583 ! Cysts [Term] id: DOID:9006380 name: Bilateral Hearing Loss alt_id: RDO:0000494 def: "Partial hearing loss in both ears." [MESH:D006312] synonym: "Bilateral Hearing Losses" EXACT [] xref: MESH:D006312 is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9006381 name: Chromosome 1, Trisomy 1q42 qter synonym: "Duplication 1q42 qter" EXACT [] synonym: "Trisomy 1q42 qter" EXACT [] xref: MESH:C538084 xref: RDO:0004018 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9006382 name: X-Linked Hydrocephalus alt_id: MIM:307000 synonym: "HSAS" EXACT [] synonym: "HSAS1" EXACT [] synonym: "HYCX" EXACT [] synonym: "Hydrocephalus due to aqueductal stenosis" EXACT [] synonym: "Hydrocephalus due to congenital stenosis of aqueduct of sylvius" EXACT [] synonym: "XLAS" NARROW [] synonym: "X-linked aqueductal stenosis" NARROW [] synonym: "X-linked congenital hydrocephalus" EXACT [] xref: MESH:C536078 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:10908 ! hydrocephalus [Term] id: DOID:9006383 name: Neurodevelopmental Disorder with Seizures, Microcephaly, and Brain Abnormalities def: "An autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications. Caused by homozygous or compound heterozygous mutation in the PPFIBP1 gene on chromosome 12p11." [MIM:620024] synonym: "NEDSMBA" EXACT [] xref: MIM:620024 is_a: DOID:10907 ! microcephaly is_a: DOID:182 ! calcinosis is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2022-11-14T12:53:15Z [Term] id: DOID:9006384 name: Carotid Intimal Medial Thickness 2 synonym: "CIMT2" EXACT [] xref: MIM:608447 is_a: DOID:178 ! vascular disease [Term] id: DOID:9006385 name: Congenital Heart Defects, X-Linked xref: MESH:C567444 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9006386 name: Scapulohumeral Muscular Dystrophy alt_id: MIM:600416 xref: MESH:C562932 is_a: DOID:11727 ! facioscapulohumeral muscular dystrophy [Term] id: DOID:9006387 name: Mitochondrial Phosphate Carrier Deficiency alt_id: MIM:610773 synonym: "MPCD" EXACT [] synonym: "neonatal hypertrophic cardiomyopathy, respiratory insufficiency, hypotonia, and lactic acidosis" EXACT [] xref: MESH:C563665 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9006388 name: Vulvar Vestibulitis def: "Inflammation of the vulvar vestibular region at the entrance of the VAGINA, generally involving surface mucosa and submucosal vestibular glands. It is characterized by ERYTHEMA and chronic recurrent pain in this area." [MESH:D054515] synonym: "Vulvar Vestibulitides" EXACT [] synonym: "Vulvar Vestibulitis Syndrome" EXACT [] xref: MESH:D054515 xref: RDO:0004673 is_a: DOID:3901 ! vulvitis [Term] id: DOID:9006391 name: Spinal Cord Neoplasms def: "Benign and malignant neoplasms which occur within the substance of the spinal cord (intramedullary neoplasms) or in the space between the dura and spinal cord (intradural extramedullary neoplasms). The majority of intramedullary spinal tumors are primary CNS neoplasms including ASTROCYTOMA; EPENDYMOMA; and LIPOMA. Intramedullary neoplasms are often associated with SYRINGOMYELIA. The most frequent histologic types of intradural-extramedullary tumors are MENINGIOMA and NEUROFIBROMA." [MESH:D013120] synonym: "intradural extramedullary spinal cord neoplasms" EXACT [] synonym: "Intramedullary Spinal Cord Neoplasms" EXACT [] synonym: "Primary Intramedullary Spinal Cord Neoplasms" EXACT [] synonym: "Spinal Cord Neoplasm" EXACT [] synonym: "Spinal Cord Neoplasms, Benign" EXACT [] synonym: "Spinal Cord Neoplasms, Malignant" EXACT [] synonym: "Spinal Cord Tumor" EXACT [] synonym: "spinal cord tumors" EXACT [] xref: EFO:0003828 xref: MESH:D013120 is_a: DOID:319 ! spinal cord disease is_a: DOID:9007701 ! Central Nervous System Neoplasms [Term] id: DOID:9006392 name: Anetoderma def: "Benign DERMATOSIS caused by a loss of dermal ELASTIC TISSUE resulting in localized sac-like areas of flaccid skin. It can be either primary (idiopathic) or secondary to other skin conditions, PENICILLAMINE use, or premature birth." [MESH:D057088] synonym: "Anetodermas" EXACT [] synonym: "Primary Anetoderma" EXACT [] synonym: "Primary Anetodermas" EXACT [] synonym: "Secondary Anetoderma" EXACT [] synonym: "Secondary Anetodermas" EXACT [] xref: MESH:D057088 xref: NCI:C133885 is_a: DOID:65 ! connective tissue disease is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9006393 name: Dowling-Degos Disease 2 synonym: "DDD2" EXACT [] xref: MIM:615327 is_a: DOID:0060256 ! Dowling-Degos disease [Term] id: DOID:9006394 name: CLAPO Syndrome alt_id: MIM:613089 synonym: "Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth" EXACT [] synonym: "Clapo" EXACT [] synonym: "Lopez-Gutierrez Syndrome" EXACT [] xref: MESH:C567763 is_a: DOID:11294 ! arteriovenous malformation is_a: DOID:225 ! syndrome is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:9006395 name: Copper-Overload Cirrhosis xref: MESH:C566858 xref: RDO:0015081 is_a: DOID:893 ! Wilson disease [Term] id: DOID:9006396 name: Red Skin Pigment Anomaly of New Guinea alt_id: MIM:266350 synonym: "Red skin pigment, New Guinea type" EXACT [] xref: MESH:C535515 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:9006397 name: Ectodermal Dysplasia-Skin Fragility Syndrome alt_id: MIM:604536 alt_id: OMIA:001864 synonym: "EDSFS" EXACT [] synonym: "McGrath syndrome" EXACT [] xref: MESH:C536183 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease [Term] id: DOID:9006398 name: Rudd Klimek Syndrome synonym: "Caudal dysgenesis familial type" EXACT [] synonym: "Familial caudal dysgenesis" EXACT [] xref: MESH:C535879 xref: RDO:0001232 is_a: DOID:225 ! syndrome is_a: DOID:9000545 ! Ectromelia [Term] id: DOID:9006399 name: Mesonephroma def: "A rare tumor of the female genital tract, most often the ovary, formerly considered to be derived from mesonephric rests. Two varieties are recognized: (1) clear cell carcinoma, so called because of its histologic resemblance to renal cell carcinoma, and now considered to be of muellerian duct derivation and (2) an embryonal tumor (called also ENDODERMAL SINUS TUMOR and yolk sac tumor), occurring chiefly in children. The latter variety may also arise in the testis. (Dorland, 27th ed)" [MESH:D008649] synonym: "mesonephromas" EXACT [] xref: MESH:D008649 is_a: DOID:9000457 ! Germ Cell and Embryonal Neoplasms [Term] id: DOID:9006402 name: Odontomicronychial Dysplasia alt_id: MIM:601319 xref: MESH:C537741 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4123 ! nail disease is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9006403 name: Cardiac Sinus Arrest def: "The omission of atrial activation that is caused by transient cessation of impulse generation at the SINOATRIAL NODE. It is characterized by a prolonged pause without P wave in an ELECTROCARDIOGRAM. Sinus arrest has been associated with sleep apnea (REM SLEEP-RELATED SINUS ARREST)." [MESH:D054138] synonym: "Cardiac Sinus Arrests" EXACT [] synonym: "Cardiac Sinus Pause" EXACT [] synonym: "Cardiac Sinus Pauses" EXACT [] xref: MESH:D054138 is_a: DOID:9002907 ! Sinus Arrhythmia [Term] id: DOID:9006404 name: Tubulointerstitial Nephritis and Uveitis alt_id: MIM:607665 synonym: "Dobrin syndrome" EXACT [] synonym: "TINU syndrome" EXACT [] synonym: "Tubulointerstitial nephritis and uveitis syndrome" EXACT [] synonym: "Tubulointerstitial Nephritis with Uveitis" EXACT [] xref: MESH:C536922 is_a: DOID:1063 ! interstitial nephritis is_a: DOID:13141 ! uveitis [Term] id: DOID:9006405 name: Pancreatic Lipase Deficiency synonym: "PANCREATIC COLIPASE DEFICIENCY" EXACT [] synonym: "PNLIPD" EXACT [] xref: MIM:614338 xref: NCI:C129030 xref: RDO:9000628 is_a: DOID:26 ! pancreas disease is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9006406 name: Xanthogranulomatous Sialadenitis xref: MESH:C536763 is_a: DOID:10303 ! sialadenitis is_a: DOID:3345 ! xanthomatosis is_a: DOID:9000769 ! Parotid Neoplasms is_a: DOID:9002019 ! Granuloma [Term] id: DOID:9006407 name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 29 def: "A neuromuscular disorder characterized by onset of muscle weakness predominantly affecting the proximal lower limbs, although upper limb involvement also occurs. Caused by homozygous or compound heterozygous mutation in the SNUPN gene on chromosome 15q24." [MIM:620793] synonym: "LGMDR29" EXACT [] xref: MIM:620793 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: tutajm creation_date: 2024-07-30T12:09:13Z [Term] id: DOID:9006408 name: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES def: "This disease is an autosomal recessive complex neurologic disorder characterized by global developmental delay apparent from infancy, impaired intellectual development, poor or absent speech, behavioral abnormalities, and various hyperkinetic movement disorders, including dystonia, spasticity, and cerebellar ataxia, that interfere with gait and cause a stooped posture. The disorder appears to be progressive with age-related deterioration of cognitive and motor function." [MIM:620785] synonym: "NEDPM" EXACT [] xref: MIM:620785 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2024-07-12T09:45:02Z [Term] id: DOID:9006409 name: Piscirickettsiaceae Infections def: "Infections with bacteria of the family PISCIRICKETTSIACEAE, causing septicemic disease of salmonid fish (SALMONIDAE). Piscirickettsia-like bacteria are also associated with disease syndromes in non-salmonid fish." [MESH:D044225] synonym: "Piscirickettsiaceae Infection" EXACT [] synonym: "Piscirickettsioses" EXACT [] synonym: "Piscirickettsiosis" EXACT [] xref: EFO:1001397 xref: MESH:D044225 xref: RDO:0007509 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9006410 name: Optic Atrophy 15 def: "Optic atrophy caused by homozygous or compound heterozygous mutation in the MCAT gene on chromosome 22q13." [MIM:620583] synonym: "OPA15" EXACT [] xref: MIM:620583 is_a: DOID:9005850 ! Hereditary Optic Atrophies created_by: tutajm creation_date: 2023-12-04T12:01:41Z [Term] id: DOID:9006411 name: Testicular Injury def: "Damage inflicted on a testicle as the direct or indirect result of an external force or agent." [] synonym: "testicular injuries" EXACT [] synonym: "testis injuries" EXACT [] synonym: "testis injury" EXACT [] is_a: DOID:2519 ! testicular disease is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9006412 name: Frontootopalatodigital Osteodysplasia xref: MESH:C567578 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006413 name: Autosomal Dominant Intellectual Developmental Disorder 72 def: "An autosomal dominant intellectual developmental disorder characterized by developmental delay, predominant speech delay, autistic or attention-deficit/hyperactivity disorder features, overfriendliness, generalized hypotonia, overweight/obesity, and dysmorphic features. Caused by heterozygous mutation in the SRRM2 gene on chromosome 16p13." [MIM:620439] synonym: "intellectual developmental disorder, autosomal dominant 72" EXACT [] synonym: "MRD72" EXACT [] xref: MIM:620439 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2023-07-07T12:45:20Z [Term] id: DOID:9006414 name: Breast Cancer, Familial Male xref: MESH:C566178 is_a: DOID:1614 ! male breast cancer is_a: DOID:9008952 ! Breast Cancer, Familial [Term] id: DOID:9006415 name: Epidermodysplasia Verruciformis 2 synonym: "EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 2" EXACT [] synonym: "EV2" EXACT [] xref: MIM:618231 is_a: DOID:13777 ! epidermodysplasia verruciformis created_by: slaulede creation_date: 2019-01-14T13:46:07Z [Term] id: DOID:9006416 name: Platelet Prostacyclin Receptor Defect alt_id: MIM:262875 synonym: "Vienna-Hietzing Defect" EXACT [] xref: MESH:C564884 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:9006417 name: Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 def: "A severe early-onset disorder characterized by impaired smooth muscle contractility in the bladder and intestines. Caused by compound heterozygous mutation in the MYL9 gene on chromosome 20q11. (OMIM)" [] synonym: "MMIHS4" EXACT [] xref: MIM:619365 is_a: DOID:0060610 ! megacystis-microcolon-intestinal hypoperistalsis syndrome created_by: mtutaj creation_date: 2021-06-23T10:56:10Z [Term] id: DOID:9006418 name: NEURODEVELOPMENTAL DISORDER WITH BEHAVIORAL ABNORMALITIES, ABSENT SPEECH, AND HYPOTONIA alt_id: MIM:618718 def: "An autosomal recessive disorder characterized by severely impaired intellectual and motor development, axial and peripheral hypotonia. Other features include poor overall growth, and joint hypermobility. Rare features include seizures, dystonia, spasticity, and nonspecific brain abnormalities." [MIM:618718] synonym: "NEDBASH" EXACT [] xref: EFO:0010658 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:92 ! speech disorder created_by: slaulede creation_date: 2020-01-14T15:23:08Z [Term] id: DOID:9006419 name: Congenital Microcoria alt_id: MIM:156600 alt_id: RDO:0003411 synonym: "CHROMOSOME 13q32 DELETION SYNDROME" EXACT [] synonym: "Congenital miosis" EXACT [] synonym: "MCOR" EXACT [] synonym: "Pinhole pupils" EXACT [] xref: MESH:C537550 is_a: DOID:238 ! pupil disease [Term] id: DOID:9006420 name: Zellweger Leukodystrophy xref: MESH:C531857 xref: RDO:0000245 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:9006421 name: Feminization def: "Development of female secondary SEX CHARACTERISTICS in the MALE. It is due to the effects of estrogenic metabolites of precursors from endogenous or exogenous sources, such as ADRENAL GLANDS or therapeutic drugs." [MESH:D005262] synonym: "Feminizations" EXACT [] xref: MESH:D005262 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9006422 name: Chromosome 1, Duplication 1p21 p32 synonym: "Duplication 1p21 p32" EXACT [] synonym: "Trisomy 1p21 p32" EXACT [] xref: MESH:C535364 xref: RDO:0000446 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9006423 name: Nephronophthisis-like Nephropathy 2 def: "An autosomal recessive cystic kidney disease characterized by onset of progressive renal insufficiency in the first decades of life. Caused by homozygous mutation in the SLC41A1 gene on chromosome 1q32. (OMIM)" [] synonym: "NPHPL2" EXACT [] xref: MIM:619468 is_a: DOID:12712 ! nephronophthisis created_by: mtutaj creation_date: 2021-08-13T17:00:31Z [Term] id: DOID:9006424 name: Cleft Lip with or without Cleft Palate, Nonsyndromic, 8 xref: MESH:C565070 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9296 ! cleft lip [Term] id: DOID:9006426 name: Cardiac Rhabdomyoma def: "This is a well circumscribed benign tumor arising from cardiac muscle. It usually affects children and may be present in the fetus." [NCI:C6739] synonym: "heart rhabdomyoma" EXACT [] xref: EFO:1000150 xref: MONDO:0006123 xref: NCI:C6739 is_a: DOID:0060091 ! cardiovascular organ benign neoplasm is_a: DOID:9003122 ! Rhabdomyoma is_a: DOID:9006547 ! Heart Neoplasms created_by: slaulede creation_date: 2022-10-10T16:39:39Z [Term] id: DOID:9006427 name: QT Interval, Variation In xref: MIM:610141 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9006428 name: Hypoglossia with Situs Inversus alt_id: MIM:612776 def: "Hypoglossia with situs inversus is a very rare congenital condition that likely represents a developmental field defect. Only sporadic cases have been reported. Hypoglossia is part of a group of malformation syndromes collectively termed 'oromandibular limb hypogenesis syndromes', that usually include limb defects. (OMIM)" [] synonym: "HYPOGLOSSIA, ISOLATED" RELATED [] xref: MESH:C567567 xref: RDO:0015614 is_a: DOID:758 ! situs inversus is_a: DOID:9004659 ! Respiration Disorders is_a: DOID:9006733 ! Stomatognathic System Abnormalities [Term] id: DOID:9006429 name: Cartwright Nelson Fryns Syndrome xref: MESH:C535917 xref: RDO:0001285 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9006431 name: Metaphyseal Chondrodysplasia with Retinitis Pigmentosa synonym: "RETINITIS PIGMENTOSA WITH OR WITHOUT SKELETAL ANOMALIES" EXACT [] synonym: "RPSKA" EXACT [] xref: MESH:C565398 xref: MIM:250410 xref: MONDO:0009598 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia [Term] id: DOID:9006432 name: Brachydactyly, Type E synonym: "BDE" EXACT [] xref: MESH:C566194 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:9006433 name: Cracked Tooth Syndrome def: "Incomplete fracture of any part of a tooth, characterized by pain during mastication and sensitivity to heat, cold, sweet or sour tastes, and alcohol; it is often undiagnosed because the tooth is usually X-ray negative and normal to pulp vitality tests." [MESH:D003387] synonym: "Cracked Tooth Syndromes" EXACT [] xref: MESH:D003387 is_a: DOID:225 ! syndrome is_a: DOID:9005844 ! Tooth Fractures [Term] id: DOID:9006434 name: Hoarding Disorder def: "Disordered behavior associated with clinically significant distress or impairment in social, occupational or other important areas of functioning and persistent difficulty parting with possessions due to a perceived need to save the items and distress associated with discarding them. (from DSM-V) The quantity of collected items sets the behavior apart from normal collecting behaviors." [MESH:D000067836] synonym: "Hoarding Disorders" EXACT [] xref: MESH:D000067836 is_a: DOID:10933 ! obsessive-compulsive disorder [Term] id: DOID:9006435 name: Mental Retardation Wolff Type alt_id: MIM:277990 synonym: "Wolff mental retardation syndrome" EXACT [] synonym: "Wolff Zimmermann syndrome" EXACT [] xref: MESH:C537448 is_a: DOID:1059 ! intellectual disability [Term] id: DOID:9006436 name: Foodborne Diseases def: "Acute illnesses, usually affecting the GASTROINTESTINAL TRACT, brought on by consuming contaminated food or beverages. Most of these diseases are infectious, caused by a variety of bacteria, viruses, or parasites that can be foodborne. Sometimes the diseases are caused by harmful toxins from the microbes or other chemicals present in the food. Especially in the latter case, the condition is often called food poisoning." [MESH:D005517] synonym: "Food-borne Disease" EXACT [] synonym: "Foodborne Disease" EXACT [] synonym: "Food borne Diseases" EXACT [] synonym: "Food borne Illnesses" EXACT [] synonym: "Foodborne Illnesses" EXACT [] synonym: "Food Poisoning" EXACT [] synonym: "Food Poisonings" EXACT [] xref: MESH:D005517 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9006437 name: Macular Degeneration, Early-Onset synonym: "EOMD" EXACT [] synonym: "FBN2-RELATED CONDITION" BROAD [] xref: MIM:616118 is_a: DOID:4448 ! macular degeneration [Term] id: DOID:9006438 name: Microspherophakia and/or Megalocornea, with Ectopia Lentis and with or without Secondary Glaucoma def: "A rare disease characterized by smaller and more spherical lenses than normal bilaterally, an increased anteroposterior thickness of the lens, and highly myopic eyes. (OMIM)" [] synonym: "MSPKA" EXACT [] xref: MIM:251750 is_a: DOID:0060305 ! megalocornea is_a: DOID:9001251 ! Microspherophakia is_a: DOID:9004201 ! Ectopia Lentis [Term] id: DOID:9006439 name: Electric Burns def: "Burns produced by contact with electric current or from a sudden discharge of electricity." [MESH:D002058] synonym: "Electric Burn" EXACT [] xref: MESH:D002058 is_a: DOID:9001588 ! Electric Injuries is_a: DOID:9007730 ! Burns [Term] id: DOID:9006441 name: Abdominal Pregnancy def: "A type of ectopic pregnancy in which the EMBRYO, MAMMALIAN implants in the ABDOMINAL CAVITY instead of in the ENDOMETRIUM of the UTERUS." [MESH:D011269] synonym: "Abdominal Pregnancies" EXACT [] xref: MESH:D011269 is_a: DOID:0060329 ! ectopic pregnancy [Term] id: DOID:9006443 name: Autolysis def: "The spontaneous disintegration of tissues or cells by the action of their own autogenous enzymes." [MESH:D001329] synonym: "Autolyses" EXACT [] xref: MESH:D001329 is_a: DOID:9006374 ! Postmortem Changes [Term] id: DOID:9006444 name: Brachyphalangy, Polydactyly, and Tibial Aplasia/Hypoplasia alt_id: MIM:609945 synonym: "Brachyphalangy, polydactyly and absent tibiae" EXACT [] xref: MESH:C537100 is_a: DOID:1148 ! polydactyly is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006445 name: Congenital Amegakaryocytic Thrombocytopenia 1 alt_id: MIM:604498 def: "An autosomal recessive disorder characterized by onset of thrombocytopenia and megakaryocytopenia in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the myeloproliferative leukemia virus oncogene (MPL) on chromosome 1p34." [] synonym: "CAMT1" EXACT [] is_a: DOID:0090118 ! congenital amegakaryocytic thrombocytopenia created_by: mtutaj creation_date: 2023-09-01T09:45:24Z [Term] id: DOID:9006446 name: Battaglia Neri Syndrome xref: MESH:C537662 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome [Term] id: DOID:9006447 name: Eye Injuries def: "Damage or trauma inflicted to the eye by external means. The concept includes both surface injuries and intraocular injuries." [MESH:D005131] synonym: "Eye Injury" EXACT [] xref: EFO:0009485 xref: MESH:D005131 xref: RDO:0005555 is_a: DOID:5614 ! eye disease is_a: DOID:9001053 ! Facial Injuries [Term] id: DOID:9006448 name: Nephrogenic Diabetes Insipidus with Mental Retardation and Intracerebral Calcification alt_id: MIM:221995 xref: MESH:C565632 is_a: DOID:1059 ! intellectual disability is_a: DOID:12387 ! nephrogenic diabetes insipidus is_a: DOID:182 ! calcinosis [Term] id: DOID:9006449 name: Chills def: "The sudden sensation of being cold. It may be accompanied by SHIVERING." [MESH:D023341] xref: MESH:D023341 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9006450 name: Familial Natural Short Sleep 2 synonym: "FNSS2" EXACT [] xref: MIM:618591 is_a: DOID:9006913 ! Short Sleep created_by: slaulede creation_date: 2019-10-11T11:18:27Z [Term] id: DOID:9006451 name: Rud Syndrome alt_id: RDO:0001231 synonym: "Dwarfism ichthyosiform erythroderma mental deficiency syndrome" EXACT [] synonym: "Ichthyosis hypogonadism mental retardation epilepsy syndrome" EXACT [] synonym: "Ichthyosis male hypogonadism syndrome" EXACT [] synonym: "Ichthyosis oligophrenia epilepsy syndrome" EXACT [] synonym: "Neuroichthyosis hypogonadism syndrome" EXACT [] synonym: "Rud's syndrome" EXACT [] xref: MESH:C535878 is_a: DOID:1059 ! intellectual disability is_a: DOID:1697 ! ichthyosis is_a: DOID:1826 ! epilepsy is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome [Term] id: DOID:9006452 name: Otodental Dysplasia alt_id: MIM:166750 synonym: "Chromosome 11q13 Deletion Syndrome" EXACT [] synonym: "Oculootodental Syndrome" NARROW [] synonym: "Otodental Syndrome" EXACT [] synonym: "Otodental Syndrome With Coloboma" NARROW [] xref: MESH:C563482 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:12270 ! coloboma is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9006453 name: Open Fractures def: "Fractures in which there is an external wound communicating with the break of the bone." [MESH:D005597] synonym: "Compound Fracture" EXACT [] synonym: "Compound Fractures" EXACT [] synonym: "Open Fracture" EXACT [] xref: MESH:D005597 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9006454 name: vulvar intraepithelial neoplasia def: "This disease involves intraepithelial neoplasia of the vulvar squamous epithelium. There is no evidence of invasion. It includes vulvar squamous intraepithelial lesion, HPV-associated and vulvar intraepithelial neoplasia, HPV-independent." [NCI:C4756] synonym: "intraepithelial neoplasia of vulva" EXACT [] synonym: "Low Grade Vulvar Intraepithelial Neoplasia" NARROW [] synonym: "squamous vulvar intraepithelial neoplasia" EXACT [] synonym: "VIN" EXACT [] synonym: "vulval intraepithelial neoplasia" EXACT [] synonym: "vulvar intraepithelial tumor" EXACT [] xref: EFO:0002627 xref: EFO:1000330 xref: NCI:C4756 is_a: DOID:9005804 ! Vulvar Neoplasms created_by: slaulede creation_date: 2023-01-05T11:34:36Z [Term] id: DOID:9006455 name: Generalized Epidermolysis Bullosa Simplex 6 with Scarring and Hair Loss synonym: "EBS6" EXACT [] synonym: "EBSSH" EXACT [] synonym: "epidermolysis bullosa simplex 6, generalized intermediate, with or without cardiomyopathy" EXACT [] synonym: "generalized epidermolysis bullosa simplex with scarring and hair loss" EXACT [] xref: MIM:617294 is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type [Term] id: DOID:9006456 name: Thomas Syndrome xref: MESH:C536514 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:9006457 name: Mental Retardation, Joint Hypermobility, and Skin Laxity, with or without Metabolic Abnormalities xref: MESH:C567209 xref: RDO:0015348 is_a: DOID:1059 ! intellectual disability is_a: DOID:37 ! skin disease is_a: DOID:9005077 ! Joint Instability [Term] id: DOID:9006458 name: Congenital Pulmonary Lymphangiectasia alt_id: MIM:265300 synonym: "CPL" EXACT [] synonym: "pulmonary cystic lymphangiectasis" EXACT [] synonym: "pulmonary lymphangiectasia" EXACT [] synonym: "pulmonary lymphangiomatosis" EXACT [] xref: MESH:C537727 is_a: DOID:850 ! lung disease is_a: DOID:9002335 ! Lymphangiectasis [Term] id: DOID:9006459 name: BURATTI-HAREL SYNDROME def: "This is a neurodevelopmental disorder characterized by infantile hypotonia, global developmental delay, mild motor and speech delay, and mild to moderately impaired intellectual development. Patients have prominent dysmorphic facial features, including hypertelorism, downslanting palpebral fissures, strabismus, and small low-set ears." [MIM:619314] synonym: "BURHAS" EXACT [] xref: MIM:619314 is_a: DOID:1059 ! intellectual disability is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2021-08-10T18:22:11Z [Term] id: DOID:9006460 name: Breast Cancer Lymphedema def: "Abnormal accumulation of lymph in the arm, shoulder and breast area associated with surgical or radiation breast cancer treatments (e.g., MASTECTOMY)." [MESH:D000072656] synonym: "Breast Cancer Lymphedemas" EXACT [] synonym: "Breast Cancer Related Arm Lymphedema" EXACT [] synonym: "Breast Cancer Related Lymphedema" EXACT [] synonym: "Breast Cancer Treatment Related Lymphedema" EXACT [] synonym: "Post mastectomy Lymphedema" EXACT [] synonym: "Postmastectomy Lymphedema" EXACT [] synonym: "Post-mastectomy Lymphedemas" EXACT [] synonym: "Postmastectomy Lymphedemas" EXACT [] xref: MESH:D000072656 is_a: DOID:4977 ! lymphedema is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9006461 name: Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease synonym: "IMNEPD" BROAD [] xref: MIM:PS616263 is_a: DOID:26 ! pancreas disease is_a: DOID:28 ! endocrine system disease is_a: DOID:863 ! nervous system disease created_by: tutajm creation_date: 2024-09-09T09:33:04Z [Term] id: DOID:9006462 name: Coma def: "A profound state of unconsciousness associated with depressed cerebral activity from which the individual cannot be aroused. Coma generally occurs when there is dysfunction or injury involving both cerebral hemispheres or the brain stem RETICULAR FORMATION." [MESH:D003128] synonym: "comas" EXACT [] synonym: "comatose" EXACT [] synonym: "EPISODIC COMA" NARROW [] synonym: "pseudocoma" NARROW [] synonym: "pseudocomas" NARROW [] xref: MESH:D003128 is_a: DOID:9007650 ! Unconsciousness [Term] id: DOID:9006463 name: Erythema Induratum def: "A type of panniculitis characterized histologically by the presence of granulomas, vasculitis, and necrosis. It is traditionally considered to be the tuberculous counterpart of nodular vasculitis, but is now known to occur without tuberculous precedent. It is seen most commonly in adolescent and menopausal women, is initiated or exacerbated by cold weather, and typically presents as one or more recurrent erythrocyanotic nodules or plaques on the calves. The nodules may progress to form indurations, ulcerations, and scars." [MESH:D004891] synonym: "Bazin's Disease" EXACT [] synonym: "Bazin Disease" EXACT [] synonym: "Bazins Disease" EXACT [] synonym: "Tuberculosis Cutis Indurativa" EXACT [] xref: MESH:D004891 is_a: DOID:1526 ! panniculitis is_a: DOID:9005437 ! Cutaneous Tuberculosis is_a: DOID:9006976 ! Erythema [Term] id: DOID:9006464 name: Storage of Unusual Polysaccharide alt_id: MIM:263600 xref: MESH:C564877 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9006465 name: Meconium Ileus def: "This disease is intestinal obstruction due to inspissated meconium in the distal ileum and cecum, which develops in utero and presents shortly after birth as a failure to pass meconium." [MIM:614665] synonym: "cystic fibrosis associated meconium ileus" NARROW [] synonym: "INTESTINAL OBSTRUCTION IN THE NEWBORN DUE TO GUANYLATE CYCLASE 2C DEFICIENCY" EXACT [] xref: EFO:0004608 xref: MIM:614665 is_a: DOID:8440 ! ileus is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9006467 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS def: "An autosomal dominant neurodevelopmental disorder with onset of features in infancy or early childhood. Affected individuals have global developmental delay with impaired intellectual development and absent speech." [MIM:618470] synonym: "ACTL6B-RELATED BAFOPATHY" BROAD [] synonym: "IDDSSAD" EXACT [] xref: MIM:618470 is_a: DOID:1059 ! intellectual disability created_by: slaulede creation_date: 2019-08-05T14:55:36Z [Term] id: DOID:9006468 name: Familial Burkitt's Lymphoma xref: MESH:C538493 xref: RDO:0004445 is_a: DOID:8584 ! Burkitt lymphoma [Term] id: DOID:9006470 name: Enzootic Pneumonia of Calves def: "Chronic endemic respiratory disease of dairy calves and an important component of bovine respiratory disease complex. It primarily affects calves up to six months of age and the etiology is multifactorial. Stress plus a primary viral infection is followed by a secondary bacterial infection. The latter is most commonly associated with PASTEURELLA MULTOCIDA producing a purulent BRONCHOPNEUMONIA. Sometimes present are MANNHEIMIA HAEMOLYTICA; HAEMOPHILUS SOMNUS and mycoplasma species." [MESH:D048089] synonym: "Enzootic Calf Pneumonia" EXACT [] synonym: "Enzootic Calf Pneumonias" EXACT [] xref: EFO:0007256 xref: MESH:D048089 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9006345 ! Bovine Respiratory Disease Complex [Term] id: DOID:9006471 name: Immunodeficiency 106 def: "An autosomal recessive immunologic disorder characterized by increased susceptibility to viral infections beginning in infancy or early childhood. Caused by homozygous or compound heterozygous mutation in the IFNAR1 gene on chromosome 21q22." [MIM:619935] synonym: "IFNAR1 deficiency" EXACT [] synonym: "IMD106" EXACT [] synonym: "immunodeficiency 106, susceptibility to viral infections" EXACT [] xref: MIM:619935 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2022-07-01T12:38:03Z [Term] id: DOID:9006472 name: Pseudoarthrogryposis alt_id: MIM:177300 synonym: "ankylosis at elbow and knee" EXACT [] synonym: "hereditary congenital rigidity of elbows and knees" EXACT [] xref: MESH:C566753 is_a: DOID:227 ! ankylosis is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9006473 name: Bilateral Vestibulopathy def: "Impairment of the vestibular function of both inner ears which can cause difficulties with balance, gait, VERTIGO, and visual blurring." [MESH:D000071699] synonym: "Bilateral Vestibular Deficiency" EXACT [] synonym: "Bilateral Vestibular Insufficiency" EXACT [] synonym: "Bilateral Vestibular Loss" EXACT [] synonym: "Vestibular Areflexia" EXACT [] xref: MESH:D000071699 xref: RDO:0016070 is_a: DOID:3426 ! vestibular disease is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9006474 name: Arterial Occlusive Diseases alt_id: RDO:0004908 def: "Pathological processes which result in the partial or complete obstruction of ARTERIES. They are characterized by greatly reduced or absence of blood flow through these vessels. They are also known as arterial insufficiency." [MESH:D001157] synonym: "ANTICHYMOTRYPSIN ISEHARA 1" RELATED [] synonym: "arterial obstructive disease" EXACT [] synonym: "Arterial Obstructive Diseases" EXACT [] synonym: "arterial occlusive disease" EXACT [] xref: EFO:0009085 xref: MESH:D001157 is_a: DOID:178 ! vascular disease [Term] id: DOID:9006475 name: Glycoprotein Storage Disease alt_id: MIM:232900 xref: MESH:C565538 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9006476 name: Spinocerebellar Ataxia with Epilepsy synonym: "Myoclonic Epilepsy Myopathy Sensory Ataxia" EXACT [] xref: MESH:C564395 xref: RDO:0013375 is_a: DOID:1826 ! epilepsy is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:9006477 name: Trilogy of Fallot def: "A combination of congenital heart defects consisting of three key features including ATRIAL SEPTAL DEFECTS; PULMONARY STENOSIS; and RIGHT VENTRICULAR HYPERTROPHY." [MESH:D014286] synonym: "Fallot's Trilogy" EXACT [] synonym: "Fallots Trilogy" EXACT [] synonym: "Fallot Trilogy" EXACT [] xref: EFO:1001439 xref: MESH:D014286 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9006478 name: Amyloid Neuropathies def: "Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)" [MESH:D017772] synonym: "Amyloid Neuropathy" EXACT [] synonym: "Amyloid Polyneuropathies" EXACT [] synonym: "Amyloid Polyneuropathy" EXACT [] synonym: "Secondary Amyloid Neuropathies" EXACT [] synonym: "Secondary Amyloid Neuropathy" EXACT [] xref: MESH:D017772 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9120 ! amyloidosis [Term] id: DOID:9006479 name: Humeroradial Multiple Synostosis Syndrome xref: MESH:C565509 is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome [Term] id: DOID:9006480 name: Delayed Cranial Ossification due to CBFB Haploinsufficiency xref: MESH:C565160 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:9001276 ! Failure to Thrive is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006481 name: Imerslund-Grasbeck Syndrome 1 alt_id: MIM:261100 alt_id: OMIA:000565 alt_id: OMIA:001786 synonym: "enterocyte cobalamin malabsorption" EXACT [] synonym: "Enterocyte intrinsic factor receptor, defect of" EXACT [] synonym: "Imerslund-Gräsbeck syndrome 1" EXACT [] synonym: "Intestinal cobalamin malabsorption, CUBN-related" NARROW [] synonym: "intestinal cobalamin malabsorption due to CUBN mutation" NARROW [] synonym: "juvenile pernicious anemia due to selective intestinal malabsorption of vitamin B12, with proteinuria" EXACT [] synonym: "megaloblastic anemia 1" EXACT [] synonym: "megaloblastic anemia-1, Finnish type" EXACT [] synonym: "MGA1" EXACT [] synonym: "recessive hereditary megaloblastic anemia 1" EXACT [] synonym: "RH-MGA1" EXACT [] xref: MESH:C538556 is_a: DOID:9006825 ! Imerslund-Grasbeck Syndrome [Term] id: DOID:9006482 name: Pulmonary Function synonym: "LUNG FUNCTION, ACCELERATED RATE OF DECLINE IN, SMOKING-RELATED" EXACT [] synonym: "PLF" EXACT [] xref: MIM:608852 is_a: DOID:850 ! lung disease [Term] id: DOID:9006483 name: Retinal Neoplasms def: "Tumors or cancer of the RETINA." [MESH:D019572] synonym: "neoplasm of retina" EXACT [] synonym: "retinal neoplasm" EXACT [] synonym: "retinal tumor" EXACT [] synonym: "retinal tumors" EXACT [] xref: EFO:1000509 xref: MESH:D019572 is_a: DOID:5679 ! retinal disease is_a: DOID:9004059 ! Eye Neoplasms [Term] id: DOID:9006484 name: Hypomyelination with Brainstem and Spinal Cord Involvement and Leg Spasticity synonym: "ASPARTYL-tRNA SYNTHETASE DEFICIENCY" EXACT [] synonym: "HBSL" EXACT [] xref: MIM:615281 xref: RDO:9000890 is_a: DOID:607 ! paraplegia is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases [Term] id: DOID:9006485 name: Hyper-IgE Recurrent Infection Syndrome 6 def: "An autosomal dominant immunologic disorder characterized by early-childhood onset of severe refractory atopic dermatitis, IgE-mediated food and drug allergies, asthma, and eosinophilic esophagitis. Caused by heterozygous gain-of-function mutation in the STAT6 gene on chromosome 12q13." [MIM:620532] synonym: "HIES6" EXACT [] synonym: "Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections" EXACT [] xref: MIM:620532 is_a: DOID:0080545 ! hyper IgE syndrome created_by: mtutaj creation_date: 2023-10-09T10:47:27Z [Term] id: DOID:9006486 name: Vertebral Hypoplasia with Lumbar Kyphosis alt_id: MIM:192900 xref: MESH:C566002 is_a: DOID:4667 ! kyphosis [Term] id: DOID:9006487 name: Reoviridae Infections def: "Infections produced by reoviruses, general or unspecified." [MESH:D012088] synonym: "Reoviridae Infection" EXACT [] synonym: "Reoviridae infectious disease" EXACT [] synonym: "Reovirus Infection" EXACT [] synonym: "Reovirus Infections" EXACT [] xref: EFO:0007464 xref: MESH:D012088 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9006488 name: Chromosome 4, Monosomy 4p14 p16 synonym: "Deletion 4p14 p16" EXACT [] synonym: "Monosomy 4p14 p16" EXACT [] xref: MESH:C537638 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006489 name: Congenital Hereditary Endothelial Dystrophy with Nail Hypoplasia alt_id: MIM:226110 xref: MESH:C565591 is_a: DOID:2566 ! corneal dystrophy is_a: DOID:4123 ! nail disease [Term] id: DOID:9006490 name: Lupus Vulgaris def: "A form of cutaneous tuberculosis. It is seen predominantly in women and typically involves the NASAL MUCOSA; BUCCAL MUCOSA; and conjunctival mucosa." [MESH:D008177] xref: EFO:1001023 xref: MESH:D008177 is_a: DOID:9005437 ! Cutaneous Tuberculosis [Term] id: DOID:9006491 name: pemphigus vegetans def: "This is a rare, localized, benign variant of pemphigus vulgaris, an autoimmune blistering disorder. There is a localized vegetating papillomatous response in this variant." [https://en.wikipedia.org/wiki/Pemphigus_vegetans, NCI:C34910] synonym: "P Veg" EXACT [] xref: EFO:0008613 is_a: DOID:0060851 ! pemphigus vulgaris created_by: slaulede creation_date: 2023-02-23T17:15:09Z [Term] id: DOID:9006492 name: Glycogen Storage Disease IIID synonym: "GSD IIID" EXACT [] xref: MESH:C566892 is_a: DOID:2748 ! glycogen storage disease III [Term] id: DOID:9006493 name: Glandular and Epithelial Neoplasms def: "Neoplasms composed of glandular tissue, an aggregation of epithelial cells that elaborate secretions, and of any type of epithelium itself. The concept does not refer to neoplasms located in the various glands or in epithelial tissue." [MESH:D009375] synonym: "epithelial neoplasm" EXACT [] synonym: "Epithelial Neoplasms" EXACT [] synonym: "Glandular Epithelial Neoplasm" EXACT [] synonym: "Glandular Epithelial Neoplasms" EXACT [] synonym: "Glandular Neoplasm" EXACT [] synonym: "glandular neoplasms" EXACT [] xref: EFO:0006858 xref: MESH:D009375 is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9006494 name: Follicular Thyroid Cancer alt_id: MIM:188470 alt_id: RDO:0012092 synonym: "NMTC2" EXACT [] synonym: "THYROID CANCER, NONMEDULLARY, 2" EXACT [] xref: MESH:C572845 is_a: DOID:1781 ! thyroid cancer [Term] id: DOID:9006495 name: Coxa Magna def: "Deformity of the hip characterized by enlargement and deformation of the FEMUR HEAD and FEMUR NECK, often with associated changes in the ACETABULUM. These changes may be secondary to other diseases (e.g. LEGG-PERTHES DISEASE; ARTHRITIS; HIP DISLOCATION, CONGENITAL) or TRAUMA." [MESH:D000070603] synonym: "Coxa Magnas" EXACT [] synonym: "Femoral Head Deformities" EXACT [] synonym: "Femoral Head Deformity" EXACT [] xref: MESH:D000070603 is_a: DOID:0080001 ! bone disease [Term] id: DOID:9006496 name: Lordosis def: "The anterior concavity in the curvature of the lumbar and cervical spine as viewed from the side. The term usually refers to abnormally increased curvature (hollow back, saddle back, swayback). It does not include lordosis as normal mating posture in certain animals ( = POSTURE + SEX BEHAVIOR, ANIMAL)." [MESH:D008141] xref: MESH:D008141 is_a: DOID:9002608 ! Spinal Curvatures [Term] id: DOID:9006497 name: Progressive Interstitial Pneumonia of Sheep def: "Chronic respiratory disease caused by the VISNA-MAEDI VIRUS. It was formerly believed to be identical with jaagsiekte (PULMONARY ADENOMATOSIS, OVINE) but is now recognized as a separate entity." [MESH:D011021] synonym: "Maedi" EXACT [] xref: MESH:D011021 is_a: DOID:9004448 ! Slow Virus Diseases is_a: DOID:9005091 ! Lentivirus Infections is_a: DOID:9006097 ! Sheep Diseases [Term] id: DOID:9006498 name: Familial Lifelong Persistent Fever alt_id: MIM:228400 xref: MESH:C565569 is_a: DOID:9006865 ! Fever of Unknown Origin [Term] id: DOID:9006499 name: Chilaiditi Syndrome def: "Interposition of a portion of the colon (e.g., SIGMOID COLON) between the liver and the diaphragm. It is associated with abdominal pain, vomiting, constipation, anorexia and volvulus. Chilaiditi anomaly refers to asymptomatic interposition." [MESH:D059269] synonym: "Chilaiditi's Anomaly" EXACT [] synonym: "Chilaiditi's Syndrome" EXACT [] synonym: "Chilaiditi Anomaly" EXACT [] synonym: "Chilaiditis Anomaly" EXACT [] synonym: "Chilaiditis Syndrome" EXACT [] xref: EFO:1001776 xref: MESH:D059269 xref: RDO:0010005 is_a: DOID:225 ! syndrome is_a: DOID:5353 ! colonic disease [Term] id: DOID:9006501 name: Psychotic Affective Disorders def: "Disorders in which the essential feature is a severe disturbance in mood (depression, anxiety, elation, and excitement) accompanied by psychotic symptoms such as delusions, hallucinations, gross impairment in reality testing, etc." [MESH:D000341] synonym: "Affective Psychoses" EXACT [] synonym: "Psychotic Affective Disorder" EXACT [] synonym: "psychotic mood disorder" EXACT [] synonym: "psychotic mood disorders" EXACT [] synonym: "psychotic reactive depression" EXACT [] xref: MESH:D000341 is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders [Term] id: DOID:9006502 name: Congenital Micromelic Dysplasia with Dislocation of Radius synonym: "Micromelic dysplasia dislocation of radius" EXACT [] xref: MESH:C537557 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001487 ! Facies [Term] id: DOID:9006503 name: Hemifacial Spasm, Familial xref: MESH:C564198 xref: MIM:141405 is_a: DOID:9006607 ! Hemifacial Spasm [Term] id: DOID:9006505 name: Jamaican Vomiting Sickness synonym: "Ackee poisoning" EXACT [] xref: MESH:C537562 is_a: DOID:9003189 ! Plant Poisoning [Term] id: DOID:9006506 name: Narcolepsy 7 synonym: "NRCLP7" EXACT [] xref: MIM:614250 is_a: DOID:8986 ! narcolepsy [Term] id: DOID:9006507 name: Marfanoid Habitus with Microcephaly and Glomerulonephritis alt_id: MIM:248760 xref: MESH:C565411 is_a: DOID:10907 ! microcephaly is_a: DOID:14323 ! Marfan syndrome is_a: DOID:2921 ! glomerulonephritis [Term] id: DOID:9006508 name: Cardiac Conduction Defect, Nonprogressive xref: MESH:C566186 xref: RDO:0014621 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9006509 name: Segmentation Syndrome 1 synonym: "Klippel-Feil syndrome with laryngeal malformation" EXACT [] xref: MESH:C537538 xref: RDO:0003397 is_a: DOID:10426 ! Klippel-Feil syndrome [Term] id: DOID:9006511 name: Xerostomia def: "Decreased salivary flow." [MESH:D014987] synonym: "Asialia" EXACT [] synonym: "Asialias" EXACT [] synonym: "Hyposalivation" EXACT [] synonym: "Hyposalivations" EXACT [] synonym: "Mouth Dryness" EXACT [] synonym: "Xerostomias" EXACT [] xref: EFO:0009869 xref: MESH:D014987 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:9006512 name: Parkinson's Disease 10 alt_id: MIM:606852 synonym: "AAOPD" EXACT [] synonym: "PARK10" EXACT [] synonym: "Parkinson's Disease, Age At Onset Of" EXACT [] synonym: "Parkinson Disease 10" EXACT [] synonym: "Parkinson Disease, Age At Onset Of" EXACT [] xref: MESH:C564653 xref: RDO:0013538 is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:9006513 name: Oocyte Maturation Defect 1 synonym: "Oocyte/zygote/embryo maturation arrest 1" EXACT [] synonym: "OOMD" EXACT [] synonym: "OOMD1" EXACT [] synonym: "OZEMA1" EXACT [] xref: MIM:615774 is_a: DOID:9007456 ! Female Infertility [Term] id: DOID:9006514 name: Severe Hepatic Fibrosis due to Schistosoma Mansoni Infection alt_id: RDO:0008919 synonym: "Severe Hepatic Fibrosis, Susceptibility to, due to Schistosoma Mansoni Infection" RELATED [] synonym: "SM2 HEPATIC FIBROSIS, SEVERE, SUSCEPTIBILITY TO, DUE TO SCHISTOSOMA JAPONICUM INFECTION" NARROW [] xref: MIM:604201 is_a: DOID:5082 ! liver cirrhosis is_a: DOID:9002869 ! Schistosomiasis Mansoni is_a: DOID:9003155 ! Parasitic Liver Diseases [Term] id: DOID:9006515 name: Contagious Pleuropneumonia def: "A pleuropneumonia of cattle and goats caused by species of MYCOPLASMA." [MESH:D011002] synonym: "Contagious Pleuropneumonias" EXACT [] xref: EFO:0007221 xref: MESH:D011002 is_a: DOID:9002467 ! Mycoplasma Infections is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9006516 name: Prosthesis-Related Infections def: "Infections resulting from the implantation of prosthetic devices. The infections may be acquired from intraoperative contamination (early) or hematogenously acquired from other sites (late)." [MESH:D016459] synonym: "Prosthesis-Related Infection" EXACT [] xref: EFO:1001406 xref: MESH:D016459 xref: RDO:0006956 is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9006517 name: Chromosome 18, Tetrasomy 18p alt_id: MIM:614290 synonym: "18p Isochromosome" EXACT [] synonym: "18p Tetrasomy" EXACT [] synonym: "Isochromosome 18p syndrome" EXACT [] synonym: "Tetrasomy, Short Arm of Chromosome 18" EXACT [] xref: MESH:C538306 is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9006518 name: DEVELOPMENTAL DELAY, BEHAVIORAL ABNORMALITIES, AND NEUROPSYCHIATRIC DISORDERS def: "This disease is characterized by mild global developmental delay and normal or variably impaired intellectual development. Most individuals have behavioral or neuropsychiatric disorders, including autism spectrum disorder (ASD), attention deficit-hyperactivity disorder (ADHD), and executive functioning deficits." [MIM:620065] synonym: "DEDBANP" EXACT [] xref: MIM:620065 is_a: DOID:150 ! disease of mental health is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2022-12-06T10:14:20Z [Term] id: DOID:9006519 name: Generalized Epidermolysis Bullosa Simplex 1D alt_id: MIM:601001 synonym: "autosomal recessive generalized intermediate or severe epidermolysis bullosa simplex 1D" EXACT [] synonym: "EBS1D" EXACT [] synonym: "EBSB1" RELATED [] xref: MESH:C563408 is_a: DOID:0080511 ! epidermolysis bullosa simplex generalized type [Term] id: DOID:9006523 name: Distal Arthrogryposis Type 2 synonym: "congenital contractures with major involvement of the hands and feet" EXACT [] synonym: "Distal Arthrogryposis Multiplex Congenita, Type 2" EXACT [] xref: MESH:C535379 is_a: DOID:0050646 ! distal arthrogryposis [Term] id: DOID:9006525 name: Distemper def: "A name for several highly contagious viral diseases of animals, especially canine distemper. In dogs, it is caused by the canine distemper virus (DISTEMPER VIRUS, CANINE). It is characterized by a diphasic fever, leukopenia, gastrointestinal and respiratory inflammation and sometimes, neurologic complications. In cats it is known as FELINE PANLEUKOPENIA." [MESH:D004216] synonym: "Canine Distemper" EXACT [] synonym: "Canine Distempers" EXACT [] synonym: "Distempers" EXACT [] xref: MESH:D004216 is_a: DOID:9003860 ! Morbillivirus Infections is_a: DOID:9006855 ! Dog Diseases [Term] id: DOID:9006526 name: Dictyocaulus Infections def: "Infection with nematodes of the genus DICTYOCAULUS. In deer, cattle, sheep, and horses the bronchi are the site of infestation." [MESH:D004022] synonym: "Dictyocauliases" EXACT [] synonym: "Dictyocauliasis" EXACT [] synonym: "Dictyocaulus Infection" EXACT [] xref: EFO:0007235 xref: MESH:D004022 is_a: DOID:1255 ! trichostrongyloidiasis is_a: DOID:9006372 ! Animal Helminthiasis [Term] id: DOID:9006527 name: Lentiginosis Profusa alt_id: MIM:151001 synonym: "diffuse lentiginosis" EXACT [] synonym: "familial lentigines profusa" EXACT [] synonym: "familial multiple lentigines syndrome without systemic involvement" EXACT [] synonym: "generalized lentiginosis" EXACT [] synonym: "inherited patterned lentiginosis" EXACT [] xref: MESH:C573023 is_a: DOID:9000319 ! Lentigo [Term] id: DOID:9006528 name: Malignant Catarrh def: "A herpesvirus infection of cattle characterized by catarrhal inflammation of the upper respiratory and alimentary epithelia, keratoconjunctivitis, encephalitis and lymph node enlargement. Syn: bovine epitheliosis, snotsiekte." [MESH:D008304] synonym: "Malignant Catarrhal Fever" EXACT [] synonym: "Malignant Catarrhal Fevers" EXACT [] synonym: "Malignant Catarrhs" EXACT [] xref: MESH:D008304 is_a: DOID:9002834 ! Herpesviridae Infections is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:9006529 name: Craniofacioskeletal Syndrome alt_id: MIM:300712 xref: MESH:C567471 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006530 name: 46,Xy True Hermaphroditism, Sry-Related xref: MESH:C567575 xref: RDO:0015622 is_a: DOID:9003766 ! 46, XY Disorders of Sex Development is_a: DOID:9006982 ! Ovotesticular Disorders of Sex Development [Term] id: DOID:9006532 name: Hematologic Neoplasms def: "Neoplasms located in the blood and blood-forming tissue (the bone marrow and lymphatic tissue). The commonest forms are the various types of LEUKEMIA, of LYMPHOMA, and of the progressive, life-threatening forms of the MYELODYSPLASTIC SYNDROMES." [MESH:D019337] synonym: "Common Hematopoietic Neoplasm" NARROW [] synonym: "hematological neoplasm" EXACT [] synonym: "Hematological Neoplasms" EXACT [] synonym: "hematologic neoplasm" EXACT [] synonym: "Hematopoietic Malignancies" EXACT [] synonym: "Hematopoietic Malignancy" EXACT [] synonym: "hematopoietic neoplasm" EXACT [] synonym: "hematopoietic neoplasms" EXACT [] xref: EFO:1000201 xref: MESH:D019337 is_a: DOID:74 ! hematopoietic system disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9006533 name: Chromosome 6, Monosomy 6p23 synonym: "Deletion 6p23" EXACT [] synonym: "Monosomy 6p23" EXACT [] xref: MESH:C537765 xref: RDO:0003663 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006534 name: Nervous System Malformations def: "Structural abnormalities of the central or peripheral nervous system resulting primarily from defects of embryogenesis." [MESH:D009421] synonym: "ABNORMALITY OF THE NERVOUS SYSTEM" EXACT [] synonym: "Congenital Anomalies, Nervous System" EXACT [] synonym: "Cranioschises" EXACT [] synonym: "Cranioschisis" EXACT [] synonym: "Nervous System Abnormalities" EXACT [] synonym: "Nervous System Abnormality" EXACT [] synonym: "Nervous System Anomalies" EXACT [] synonym: "Nervous System Anomaly" EXACT [] synonym: "Nervous System Congenital Abnormalities" EXACT [] synonym: "Nervous System Congenital Malformations" EXACT [] synonym: "Nervous System Malformation" EXACT [] xref: MESH:D009421 is_a: DOID:863 ! nervous system disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9006535 name: Hookworm Infections def: "Infection of humans or animals with hookworms other than those caused by the genus Ancylostoma or Necator, for which the specific terms ANCYLOSTOMIASIS and NECATORIASIS are available." [MESH:D006725] synonym: "Bunostomiases" EXACT [] synonym: "Bunostomiasis" EXACT [] synonym: "Hookworm Infection" EXACT [] xref: EFO:0007314 xref: MESH:D006725 xref: RDO:0004827 is_a: DOID:9003369 ! Strongylida Infections [Term] id: DOID:9006536 name: Retropharyngeal Abscess def: "An accumulation of purulent material in the space between the PHARYNX and the CERVICAL VERTEBRAE. This usually results from SUPPURATION of retropharyngeal LYMPH NODES in patients with UPPER RESPIRATORY TRACT INFECTIONS, perforation of the pharynx, or head and neck injuries." [MESH:D017703] synonym: "Retropharyngeal Abscesses" EXACT [] xref: EFO:1001415 xref: MESH:D017703 is_a: DOID:2275 ! pharyngitis is_a: DOID:9000325 ! Abscess [Term] id: DOID:9006537 name: Supratentorial Neoplasms def: "Primary and metastatic (secondary) tumors of the brain located above the tentorium cerebelli, a fold of dura mater separating the CEREBELLUM and BRAIN STEM from the cerebral hemispheres and DIENCEPHALON (i.e., THALAMUS and HYPOTHALAMUS and related structures). In adults, primary neoplasms tend to arise in the supratentorial compartment, whereas in children they occur more frequently in the infratentorial space. Clinical manifestations vary with the location of the lesion, but SEIZURES; APHASIA; HEMIANOPSIA; hemiparesis; and sensory deficits are relatively common features. Metastatic supratentorial neoplasms are frequently multiple at the time of presentation." [MESH:D015173] synonym: "Benign Supratentorial Neoplasm" EXACT [] synonym: "Benign Supratentorial Neoplasms" EXACT [] synonym: "Malignant Supratentorial Neoplasm" EXACT [] synonym: "Malignant Supratentorial Neoplasms" EXACT [] synonym: "Primary Supratentorial Neoplasm" EXACT [] synonym: "Primary Supratentorial Neoplasms" EXACT [] synonym: "Supratentorial Neoplasm" EXACT [] synonym: "Supratentorial Tumor" EXACT [] synonym: "Supratentorial Tumors" EXACT [] xref: MESH:D015173 is_a: DOID:9007502 ! Brain Neoplasms [Term] id: DOID:9006538 name: Agricultural Workers' Diseases def: "Diseases in persons engaged in cultivating and tilling soil, growing plants, harvesting crops, raising livestock, or otherwise engaged in husbandry and farming. The diseases are not restricted to farmers in the sense of those who perform conventional farm chores: the heading applies also to those engaged in the individual activities named above, as in those only gathering harvest or in those only dusting crops." [MESH:D000382] synonym: "Agricultural Worker's Disease" EXACT [] synonym: "Agricultural Worker's Diseases" EXACT [] synonym: "Agricultural Worker Disease" EXACT [] synonym: "Agricultural Worker Diseases" EXACT [] synonym: "Agricultural Workers Disease" EXACT [] xref: MESH:D000382 xref: RDO:0004785 is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:9006541 name: Chromosome 14q, Terminal Duplication synonym: "Duplication 14qter" EXACT [] synonym: "Trisomy 14qter" EXACT [] xref: MESH:C538034 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9006542 name: Primary Autosomal Recessive Microcephaly 26 def: "Characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development. Caused by heterozygous mutation in the LMNB1 gene on chromosome 5q23." [MIM:619179] synonym: "LMNB1-RELATED CONDITION" BROAD [] synonym: "MCPH26" EXACT [] synonym: "MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT" RELATED [] xref: MIM:619179 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: mtutaj creation_date: 2021-02-22T17:39:47Z [Term] id: DOID:9006543 name: Facial Palsy, Familial Recurrent Peripheral alt_id: MIM:134200 xref: MESH:C565028 is_a: DOID:13934 ! facial paralysis [Term] id: DOID:9006544 name: Hypoglossia-Hypodactylia alt_id: MIM:103300 synonym: "Aglossia-Adactylia" EXACT [] synonym: "Oromandibular Limb Hypoplasia" EXACT [] synonym: "Peromelia with Micrognathism" EXACT [] xref: MESH:C566308 is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9006545 name: Diabetic Bone Disease def: "Pathophysiological condition(s) of bone(s), as a result of diabetes mellitus." [] synonym: "diabetic osteopathy" EXACT [] synonym: "diabetic osteoporosis" NARROW [] is_a: DOID:11476 ! osteoporosis is_a: DOID:9002661 ! Diabetes Complications created_by: slaulede creation_date: 2018-09-27T12:09:56Z [Term] id: DOID:9006546 name: Refeeding Syndrome def: "A condition of metabolic imbalance that is caused by complications of initially feeding a severely malnourished patient too aggressively. Usually occurring within the first 5 days of refeeding, this syndrome is characterized by WATER-ELECTROLYTE IMBALANCE; GLUCOSE INTOLERANCE; CARDIAC ARRHYTHMIAS; and DIARRHEA." [MESH:D055677] xref: MESH:D055677 is_a: DOID:225 ! syndrome is_a: DOID:9005695 ! Malnutrition [Term] id: DOID:9006547 name: Heart Neoplasms def: "Tumors in any part of the heart. They include primary cardiac tumors and metastatic tumors to the heart. Their interference with normal cardiac functions can cause a wide variety of symptoms including HEART FAILURE; CARDIAC ARRHYTHMIAS; or EMBOLISM." [] synonym: "Cardiac Carcinoma" EXACT [] synonym: "Cardiac Carcinomas" EXACT [] synonym: "cardiac neoplasm" EXACT [] synonym: "Cardiac Neoplasms" EXACT [] synonym: "cardiac tumor" EXACT [] synonym: "Cardiac Tumors" EXACT [] synonym: "Heart Neoplasm" EXACT [] synonym: "heart tumor" EXACT [] synonym: "heart tumors" EXACT [] synonym: "Intracavitary Tumors of the Heart" EXACT [] synonym: "Myocardial Tumor (Rhabdomyomas and Fibromas)" EXACT [] synonym: "Myocardial Tumors (Rhabdomyomas and Fibromas)" EXACT [] synonym: "Primary Cardiac Tumors, Childhood" EXACT [] synonym: "tumour of heart" EXACT [] xref: EFO:1001339 is_a: DOID:114 ! heart disease [Term] id: DOID:9006548 name: Gm2-Gangliosidosis, Variant B1 xref: MESH:C567601 xref: RDO:0015642 is_a: DOID:3320 ! Tay-Sachs disease [Term] id: DOID:9006549 name: Enterovirus Infections def: "Diseases caused by ENTEROVIRUS." [MESH:D004769] synonym: "Enterovirus Infection" EXACT [] synonym: "Enterovirus infectious disease" EXACT [] xref: EFO:0007255 xref: MESH:D004769 is_a: DOID:9003470 ! Picornaviridae Infections [Term] id: DOID:9006550 name: hepatosplenic schistosomiasis def: "Hepatosplenic schistosomiasis refers to the major complication of chronic infection with Schistosoma mansoni, S japonicum and S mekongi, schistosomal portal hypertension. It is usually associated with enlargement of the liver and spleen, and reversible hepatosplenomegaly may occur in early infections. It is a chronic complication, which develops as a consequence of inflammatory response." [PMID:15626059, PMID:3522373] synonym: "hepatic schistosomiasis" NARROW [] synonym: "HSS" EXACT [] is_a: DOID:1395 ! schistosomiasis is_a: DOID:2529 ! splenic disease is_a: DOID:9003155 ! Parasitic Liver Diseases created_by: slaulede creation_date: 2020-02-25T17:10:30Z [Term] id: DOID:9006551 name: Pseudohypoaldosteronism, Type IIB alt_id: MIM:614491 alt_id: RDO:0013210 synonym: "PHA2B" EXACT [] synonym: "PSEUDOHYPOALDOSTERONISM TYPE 2B" EXACT [] xref: MESH:C564161 is_a: DOID:4479 ! pseudohypoaldosteronism [Term] id: DOID:9006552 name: Bacterial Endocarditis alt_id: RDO:0005484 def: "Inflammation of the ENDOCARDIUM caused by BACTERIA that entered the bloodstream. The strains of bacteria vary with predisposing factors, such as CONGENITAL HEART DEFECTS; HEART VALVE DISEASES; HEART VALVE PROSTHESIS IMPLANTATION; or intravenous drug use." [MESH:D004697] synonym: "Bacterial Endocarditides" EXACT [] xref: EFO:1000830 xref: MESH:D004697 is_a: DOID:10314 ! endocarditis is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9003237 ! Cardiovascular Infections [Term] id: DOID:9006553 name: Hyperthermia def: "An abnormal elevation of body temperature, usually as a result of inability to regulate core body temperature due to non-pathologic factors. (MESH)" [] synonym: "Hyperpyrexia" EXACT [] synonym: "Hyperpyrexias" EXACT [] xref: MESH:D000084462 is_a: DOID:9001103 ! Heat Stress Disorders is_a: DOID:9008809 ! Body Temperature Changes created_by: mtutaj creation_date: 2021-02-19T15:42:39Z [Term] id: DOID:9006554 name: Pancreatic Cyst def: "A true cyst of the PANCREAS, distinguished from the much more common PANCREATIC PSEUDOCYST by possessing a lining of mucous EPITHELIUM. Pancreatic cysts are categorized as congenital, retention, neoplastic, parasitic, enterogenous, or dermoid. Congenital cysts occur more frequently as solitary cysts but may be multiple. Retention cysts are gross enlargements of PANCREATIC DUCTS secondary to ductal obstruction. (From Bockus Gastroenterology, 4th ed, p4145)" [MESH:D010181] synonym: "Pancreatic Cysts" EXACT [] xref: MESH:D010181 is_a: DOID:26 ! pancreas disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:9006555 name: Lysosomal Alpha-N-Acetylgalactosaminidase Deficiency xref: MESH:C538648 is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:9006556 name: Myeloproliferative Disease, Autosomal Recessive alt_id: MIM:254700 xref: MESH:C564977 is_a: DOID:0070004 ! myeloid neoplasm [Term] id: DOID:9006557 name: Nervous System Neoplasms def: "Benign and malignant neoplastic processes arising from or involving components of the central, peripheral, and autonomic nervous systems, cranial nerves, and meninges. Included in this category are primary and metastatic nervous system neoplasms." [MESH:D009423] synonym: "neoplasm of nervous system" EXACT [] synonym: "Nervous System Neoplasm" EXACT [] synonym: "Nervous System Tumor" EXACT [] synonym: "nervous system tumors" EXACT [] synonym: "neural neoplasm" EXACT [] synonym: "neural tumor" EXACT [] synonym: "tumor of the nervous system" EXACT [] synonym: "tumors of the nervous system" EXACT [] xref: MESH:D009423 is_a: DOID:863 ! nervous system disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9006559 name: Granulomatous Vasculitis def: "Inflammation of any one of the blood vessels or lymphatic vessels in the body, featuring a granulomatous component." [] is_a: DOID:865 ! vasculitis [Term] id: DOID:9006560 name: Urofacial Syndrome 1 synonym: "HPSE2-RELATED CONDITION" EXACT [] synonym: "UFS1" EXACT [] synonym: "UROFACIAL SYNDROME TYPE 1" EXACT [] xref: MIM:236730 is_a: DOID:0050816 ! urofacial syndrome created_by: rgd creation_date: 2017-11-08T00:00:00Z [Term] id: DOID:9006561 name: Familial Myelofibrosis synonym: "Myelofibrosis With Myeloid Metaplasia, Somatic" NARROW [] xref: MESH:C536848 xref: RDO:0002557 is_a: DOID:4971 ! myelofibrosis [Term] id: DOID:9006562 name: Choroidal Effusions def: "Finding of fluid accumulation between the CHOROID and the SCLERA." [MESH:D000080324] synonym: "Choroidal Detachment" EXACT [] synonym: "Ciliochoroidal Detachment" EXACT [] synonym: "Ciliochoroidal Effusions" EXACT [] synonym: "Suprachoroidal Space" EXACT [] xref: MESH:D000080324 is_a: DOID:1417 ! choroid disease is_a: DOID:9008296 ! Eye Abnormalities created_by: mtutaj creation_date: 2020-01-30T14:46:15Z [Term] id: DOID:9006563 name: Spondyloepimetaphyseal Dysplasia, Shohat Type synonym: "SEMDSH" EXACT [] synonym: "SEMD, Shohat Type" EXACT [] xref: MESH:C566523 xref: MIM:602557 xref: MONDO:0011252 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:9006564 name: Pyonephrosis alt_id: RDO:0007604 def: "Distention of KIDNEY with the presence of PUS and suppurative destruction of the renal parenchyma. It is often associated with renal obstruction and can lead to total or nearly total loss of renal function." [MESH:D053018] synonym: "Infected Hydronephrosis" EXACT [] xref: MESH:D053018 is_a: DOID:11111 ! hydronephrosis [Term] id: DOID:9006566 name: Harrod Doman Keele Syndrome synonym: "Craniofacial digital genital anomalies" EXACT [] synonym: "Harrod syndrome" EXACT [] xref: MESH:C535635 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006567 name: Methylmalonate Semialdehyde Dehydrogenase Deficiency alt_id: MIM:614105 synonym: "MMSDHD" EXACT [] synonym: "MMSDH Deficiency" EXACT [] xref: MESH:C566402 xref: RDO:0014766 is_a: DOID:653 ! purine-pyrimidine metabolic disorder is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9006569 name: Osteolysis Hereditary Multicentric alt_id: MIM:259600 synonym: "Al-Aqeel Sewairi syndrome" EXACT [] synonym: "MONA" EXACT [] synonym: "Multicentric Osteolysis, Nodulosis, and Arthropathy" EXACT [] synonym: "MULTICENTRIC OSTEOLYSIS-NODULOSIS-ARTHROPATHY (MONA) SPECTRUM DISORDERS" EXACT [] synonym: "NAO SYNDROME" EXACT [] synonym: "Nodulosis-Arthropathy-Osteolysis Syndrome" EXACT [] synonym: "Torg osteolysis syndrome" EXACT [] synonym: "Torg Syndrome" EXACT [] synonym: "Torg-Winchester syndrome" EXACT [] xref: MESH:C536051 xref: ORDO:371428 is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:9006570 name: Sacroiliitis def: "Inflammation of the SACROILIAC JOINT. It is characterized by lower back pain, especially upon walking, fever, UVEITIS; PSORIASIS; and decreased range of motion. Many factors are associated with and cause sacroiliitis including infection; injury to spine, lower back, and pelvis; DEGENERATIVE ARTHRITIS; and pregnancy." [MESH:D058566] synonym: "Pyogenic Sacroiliitides" EXACT [] synonym: "Pyogenic Sacroiliitis" EXACT [] synonym: "Sacroiliitides" EXACT [] synonym: "Septic Sacroiliitides" EXACT [] synonym: "Septic Sacroiliitis" EXACT [] xref: MESH:D058566 is_a: DOID:848 ! arthritis [Term] id: DOID:9006571 name: Epidermodysplasia Verruciformis 3 synonym: "epidermodysplasia verruciformis, susceptibility to, 3" EXACT [] synonym: "EV3" EXACT [] xref: MIM:618267 is_a: DOID:13777 ! epidermodysplasia verruciformis created_by: mtutaj creation_date: 2019-02-12T12:20:36Z [Term] id: DOID:9006572 name: primary pulmonary hypertension 4 synonym: "PPH4" EXACT [] synonym: "Primary Pulmonary Hypertension, 4" EXACT [] xref: MIM:615344 is_a: DOID:14557 ! primary pulmonary hypertension created_by: rgd creation_date: 2015-07-07T00:00:00Z [Term] id: DOID:9006573 name: Familial Recurrent Dislocation of Patella alt_id: MIM:169000 xref: MESH:C566816 is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9005077 ! Joint Instability [Term] id: DOID:9006574 name: NEURODEVELOPMENTAL DISORDER WITH ABSENT SPEECH AND MOVEMENT AND BEHAVIORAL ABNORMALITIES def: "This disease is an autosomal recessive disorder characterized by global developmental delay and severely impaired intellectual development with aggressive behavior. Mild dysmorphic features and hypodontia are also present." [MIM:620270] synonym: "NEDSM" EXACT [] xref: MIM:620270 is_a: DOID:543 ! dystonia is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:92 ! speech disorder created_by: slaulede creation_date: 2023-05-02T08:56:58Z [Term] id: DOID:9006575 name: Vitamin E Deficiency def: "A nutritional condition produced by a deficiency of VITAMIN E in the diet, characterized by posterior column and spinocerebellar tract abnormalities, areflexia, ophthalmoplegia, and disturbances of gait, proprioception, and vibration. In premature infants vitamin E deficiency is associated with hemolytic anemia, thrombocytosis, edema, intraventricular hemorrhage, and increasing risk of retrolental fibroplasia and bronchopulmonary dysplasia. An apparent inborn error of vitamin E metabolism, named familial isolated vitamin E deficiency, has recently been identified. (Cecil Textbook of Medicine, 19th ed, p1181)" [MESH:D014811] synonym: "Vitamin E Deficiencies" EXACT [] xref: MESH:D014811 is_a: DOID:9004644 ! Avitaminosis [Term] id: DOID:9006576 name: Generalized Thyroid Hormone Resistance, Autosomal Recessive alt_id: MIM:274300 synonym: "GRTHR" EXACT [] xref: MESH:C567936 is_a: DOID:11633 ! thyroid hormone resistance syndrome [Term] id: DOID:9006577 name: Johnson Neuroectodermal Syndrome alt_id: MIM:147770 synonym: "AADH syndrome" EXACT [] synonym: "Alopecia anosmia deafness hypogonadism syndrome" EXACT [] synonym: "Johnson-Mcmillin syndrome" EXACT [] xref: MESH:C535882 is_a: DOID:1924 ! hypogonadism is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9004147 ! Anosmia is_a: DOID:9008681 ! Deafness is_a: DOID:987 ! alopecia [Term] id: DOID:9006578 name: Thumb Agenesis, Short Stature, and Immunodeficiency alt_id: MIM:274190 xref: MESH:C564770 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9006579 name: Auriculocondylar Syndrome 4 def: "A disease characterized by malformed ears, round face, puffy cheeks, micrognathia, microstomia, malocclusion, and abnormal mandibular condyles with temporomandibular joint abnormalities. Caused by heterozygosity for a tandem duplication within the HDAC9 gene on chromosome 7p21." [MIM:620457] synonym: "ARCND4" EXACT [] xref: MIM:620457 is_a: DOID:9000208 ! Auriculocondylar Syndrome created_by: mtutaj creation_date: 2023-07-28T11:47:52Z [Term] id: DOID:9006581 name: Glycogen Storage Disease 0, Liver alt_id: MIM:240600 synonym: "GSD 0a" EXACT [] synonym: "GSD0A" EXACT [] synonym: "Hypoglycemia With Deficiency Of Glycogen Synthetase In The Liver" EXACT [] synonym: "Liver Glycogen Synthase Deficiency" EXACT [] xref: MESH:C565485 is_a: DOID:2747 ! glycogen storage disease is_a: DOID:409 ! liver disease [Term] id: DOID:9006582 name: Oculoskeletodental Syndrome synonym: "CATARACTS, EARLY-ONSET, WITH SKELETAL AND DENTAL ANOMALIES" EXACT [] synonym: "OCSKD" EXACT [] xref: MIM:618440 is_a: DOID:83 ! cataract is_a: DOID:9001487 ! Facies is_a: DOID:9009007 ! Tooth Abnormalities created_by: mtutaj creation_date: 2019-06-25T12:40:14Z [Term] id: DOID:9006584 name: Dilated Cardiomyopathy, Neutropenia, Skeletal Myopathy, and Abnormal Mitochondria xref: MESH:C538496 is_a: DOID:0050476 ! Barth syndrome [Term] id: DOID:9006586 name: Neonatal Inflammatory Skin and Bowel Disease 2 def: "An autosomal recessive disorder characterized by intrauterine growth retardation and premature birth, fragile infection-prone skin, and nephromegaly with tubular dysfunction. Caused by homozygous or compound heterozygous mutation in the EGFR gene on chromosome 7p11." [] synonym: "EGFR-RELATED CONDITION" BROAD [] synonym: "Neonatal nephrocutaneous inflammatory syndrome" EXACT [] synonym: "NISBD2" EXACT [] synonym: "NNCIS" EXACT [] xref: MIM:616069 xref: MONDO:0014481 is_a: DOID:820 ! myocarditis is_a: DOID:9008088 ! Neonatal Inflammatory Skin and Bowel Disease [Term] id: DOID:9006587 name: Gingival Fibromatosis 3 synonym: "GGF3" EXACT [] synonym: "GINGF3" EXACT [] synonym: "gingival fibromatosis, hereditary, 3" EXACT [] synonym: "HGF3" EXACT [] xref: MESH:C537928 xref: MIM:609955 xref: MONDO:0012378 is_a: DOID:0060466 ! gingival fibromatosis [Term] id: DOID:9006588 name: Trismus def: "Spasmodic contraction of the masseter muscle resulting in forceful jaw closure. This may be seen with a variety of diseases, including TETANUS, as a complication of radiation therapy, trauma, or in association with neoplastic conditions." [MESH:D014313] synonym: "Lock Jaw" EXACT [] synonym: "Lockjaw" EXACT [] synonym: "Masseter Muscle Spasm" EXACT [] synonym: "Masseter Muscle Spasms" EXACT [] synonym: "Masseter Spasm" EXACT [] synonym: "Masseter Spasms" EXACT [] xref: MESH:D014313 is_a: DOID:9006743 ! Spasm [Term] id: DOID:9006589 name: Birnaviridae Infections def: "Virus diseases caused by the BIRNAVIRIDAE." [MESH:D018175] synonym: "Birnaviridae Infection" EXACT [] xref: EFO:1001764 xref: MESH:D018175 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9006590 name: Chondrocalcinosis 2 alt_id: MIM:118600 def: "This disease is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia); and a sporadic form, which may in some cases represent the hereditary form." [MIM:118600] synonym: "ANKH-RELATED CONDITION" BROAD [] synonym: "Calcium Gout" EXACT [] synonym: "Calcium Pyrophosphate Arthropathy" EXACT [] synonym: "calcium pyrophosphate dihydrate deposition disease" EXACT [] synonym: "calcium pyrophosphate dihydrate deposition disease 2" EXACT [] synonym: "CCAL2" EXACT [] synonym: "CHONDROCALCINOSIS 2, SPORADIC" NARROW [] synonym: "CPPDD" EXACT [] synonym: "CPPDD2" EXACT [] synonym: "familial articular chondrocalcinosis" EXACT [] xref: MESH:C563162 is_a: DOID:1156 ! chondrocalcinosis [Term] id: DOID:9006591 name: Chromosome 15q, Trisomy synonym: "Duplication 15q" EXACT [] synonym: "Trisomy 15q" EXACT [] xref: MESH:C538040 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9006592 name: Sjögren-Mikulicz Syndrome synonym: "Sjogren-Mikulicz syndrome" EXACT [] xref: MESH:C536669 is_a: DOID:10301 ! parotitis is_a: DOID:225 ! syndrome is_a: DOID:7148 ! rheumatoid arthritis [Term] id: DOID:9006593 name: Bernard-Soulier Syndrome, Type B synonym: "familial macrothrombocytopenia, Bernard-Soulier type" EXACT [] synonym: "Giant platelet disorder, isolated" EXACT [] xref: MESH:C565549 is_a: DOID:2217 ! Bernard-Soulier syndrome [Term] id: DOID:9006594 name: Cysteine Peptiduria alt_id: MIM:219550 xref: MESH:C565659 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9006595 name: Chromosome 7, Monosomy 7q21 synonym: "Deletion 7q21" EXACT [] synonym: "Monosomy 7q21" EXACT [] xref: MESH:C537816 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006596 name: Cayler Cardiofacial Syndrome alt_id: MIM:125520 synonym: "ACF" EXACT [] synonym: "Asymmetric crying facies" EXACT [] synonym: "Cayler's syndrome" EXACT [] synonym: "Cayler syndrome" EXACT [] synonym: "Depressor Anguli Oris Muscle, Hypoplasia Of" EXACT [] synonym: "Partial unilateral facial paralysis" EXACT [] synonym: "Partial unilateral facial paresis" EXACT [] xref: MESH:C535349 is_a: DOID:13934 ! facial paralysis is_a: DOID:225 ! syndrome [Term] id: DOID:9006597 name: Retinal Dysplasia def: "Congenital, often bilateral, retinal abnormality characterized by the arrangement of outer nuclear retinal cells in a palisading or radiating pattern surrounding a central ocular space. This disorder is sometimes hereditary." [MESH:D015792] synonym: "Retinal Dysplasias" EXACT [] xref: MESH:D015792 is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9006598 name: Three M Syndrome 2 alt_id: MIM:612921 def: "3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips. 3M2 is caused by homozygous or compound heterozygous mutation in the OBSL1 gene on chromosome 2q35. (OMIM)" [] synonym: "3M2" EXACT [] synonym: "3M SYNDROME 2" EXACT [] synonym: "OBSL1-RELATED CONDITION" EXACT [] xref: MESH:C567862 is_a: DOID:0060241 ! 3-M syndrome [Term] id: DOID:9006599 name: Hypertriglyceridemia def: "A condition of elevated levels of TRIGLYCERIDES in the blood." [MESH:D015228] synonym: "Hypertriglyceridemias" EXACT [] synonym: "Hypertriglyceridemia, Susceptibility To" RELATED [] xref: EFO:0004211 xref: MESH:D015228 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:9006600 name: Calvarial Hyperostosis alt_id: MIM:302030 synonym: "Isolated hyperostosis of the calvarium" EXACT [] xref: MESH:C537963 is_a: DOID:205 ! hyperostosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006601 name: Wilms Tumor 4 alt_id: MIM:601363 synonym: "Familial Wilms Tumor 1" EXACT [] synonym: "FWT1" EXACT [] synonym: "WT4" EXACT [] xref: MESH:C563336 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:9006602 name: Distal Myopathy 5 def: "An autosomal recessive, slowly progressive muscle disorder characterized by adolescent onset of distal muscle weakness and atrophy predominantly affecting the lower limbs. (OMIM)" [] synonym: "ADSS1-RELATED CONDITION" EXACT [] synonym: "MPD5" EXACT [] xref: MIM:617030 is_a: DOID:11720 ! distal myopathy [Term] id: DOID:9006603 name: Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies xref: MIM:PS615419 is_a: DOID:9001343 ! Infantile Hypotonia with Psychomotor Retardation is_a: DOID:9001487 ! Facies created_by: mtutaj creation_date: 2019-03-19T00:00:00Z [Term] id: DOID:9006604 name: Anhedonia def: "Inability to experience pleasure due to impairment or dysfunction of normal psychological and neurobiological mechanisms. It is a symptom of many PSYCHOTIC DISORDERS (e.g., DEPRESSIVE DISORDER, MAJOR; and SCHIZOPHRENIA)." [MESH:D059445] synonym: "Anhedonias" EXACT [] synonym: "Physical Anhedonia" EXACT [] synonym: "Physical Anhedonias" EXACT [] synonym: "Social Anhedonia" EXACT [] synonym: "Social Anhedonias" EXACT [] xref: MESH:D059445 is_a: DOID:9002320 ! Neurobehavioral Manifestations [Term] id: DOID:9006605 name: Familial Erythema Nodosum alt_id: MIM:132990 xref: MESH:C535510 is_a: DOID:0080750 ! erythema nodosum [Term] id: DOID:9006606 name: Feline Acquired Immunodeficiency Syndrome def: "Acquired defect of cellular immunity that occurs in cats infected with feline immunodeficiency virus (FIV) and in some cats infected with feline leukemia virus (FeLV)." [MESH:D016181] synonym: "FAIDS" EXACT [] synonym: "Feline Acquired Immune Deficiency Syndrome" EXACT [] synonym: "Feline Acquired Immuno Deficiency Syndrome" EXACT [] synonym: "Feline AIDS" EXACT [] xref: MESH:D016181 is_a: DOID:225 ! syndrome is_a: DOID:9004448 ! Slow Virus Diseases is_a: DOID:9005091 ! Lentivirus Infections is_a: DOID:9005924 ! Cat Diseases [Term] id: DOID:9006607 name: Hemifacial Spasm alt_id: MIM:134300 def: "Recurrent clonic contraction of facial muscles, restricted to one side. It may occur as a manifestation of compressive lesions involving the seventh cranial nerve (FACIAL NERVE DISEASES), during recovery from BELL PALSY, or in association with other disorders. (From Adams et al., Principles of Neurology, 6th ed, p1378)" [MESH:D019569] synonym: "Hemifacial Myokymia" EXACT [] synonym: "Hemifacial Spasms" EXACT [] synonym: "Unilateral Facial Spasm" EXACT [] synonym: "Unilateral Facial Spasms" EXACT [] xref: MESH:D019569 is_a: DOID:403 ! mouth disease is_a: DOID:9006743 ! Spasm [Term] id: DOID:9006608 name: Lung Carcinoid Tumors synonym: "carcinoid tumor of lung" EXACT [] synonym: "Lung Carcinoid Neoplasm" EXACT [] synonym: "Lung Carcinoid Tumor" EXACT [] synonym: "PCT" EXACT [] synonym: "pulmonary carcinoid neoplasm" EXACT [] synonym: "pulmonary carcinoid tumor" EXACT [] xref: EFO:1000037 xref: NCI:C4038 is_a: DOID:9005172 ! Lung Neoplasms is_a: DOID:9007787 ! Carcinoid Tumor [Term] id: DOID:9006609 name: Trypsinogen Deficiency xref: MIM:614044 xref: RDO:9000845 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9006610 name: Alpha-B Crystallinopathy with Cataract synonym: "Desmin-Related Myopathy with Cataract" EXACT [] xref: MESH:C563849 xref: RDO:0013001 is_a: DOID:83 ! cataract is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9006611 name: Aquagenic Urticaria xref: GARD:10901 xref: MIM:191850 xref: MONDO:0008632 is_a: DOID:1555 ! urticaria [Term] id: DOID:9006612 name: Psychomotor Retardation, Epilepsy, and Craniofacial Dysmorphism synonym: "NEDHCS" EXACT [] synonym: "neurodevelopmental disorder with hypotonia, craniofacial abnormalities, and seizures" EXACT [] synonym: "PMRED" EXACT [] xref: MIM:614501 is_a: DOID:1826 ! epilepsy is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006613 name: Trichophyton Infection xref: MESH:C569516 is_a: DOID:8913 ! dermatophytosis [Term] id: DOID:9006614 name: Lower Extremity Deep Vein Thrombosis def: "The formation or presence of a blood clot (THROMBUS) within a vein of the lower extremity." [] synonym: "deep vein thrombosis of leg" EXACT [] synonym: "deep vein thrombosis of lower limb" EXACT [] xref: RDO:9000094 is_a: DOID:9003871 ! Venous Thrombosis [Term] id: DOID:9006615 name: HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY 2 synonym: "HOMGSMR2" EXACT [] synonym: "Hypomagnesemia, Seizures, and Mental Retardation 2" EXACT [] xref: MIM:618314 is_a: DOID:9002857 ! HYPOMAGNESEMIA, SEIZURES, AND INTELLECTUAL DISABILITY created_by: rgd creation_date: 2017-02-24T00:00:00Z [Term] id: DOID:9006616 name: Congenital Hydrocephalus 2, with or without Brain or Eye Anomalies synonym: "HYC2" EXACT [] synonym: "HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES" EXACT [] synonym: "MPDZ-RELATED CONDITION" EXACT [] synonym: "Nonsyndromic Hydrocephalus, Autosomal Recessive 2" EXACT [] xref: MIM:615219 is_a: DOID:10908 ! hydrocephalus [Term] id: DOID:9006617 name: Fatigue def: "The state of weariness following a period of exertion, mental or physical, characterized by a decreased capacity for work and reduced efficiency to respond to stimuli." [MESH:D005221] synonym: "Lassitude" EXACT [] xref: MESH:D005221 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9006618 name: Liver Metastasis def: "Transfer of a neoplasm from its primary site to the liver." [] synonym: "liver metastases" EXACT [] synonym: "metastatic liver disease" EXACT [] synonym: "secondary liver cancer" EXACT [] is_a: DOID:3571 ! liver cancer is_a: DOID:9000965 ! Neoplasm Metastasis created_by: gthayman creation_date: 2019-07-24T12:29:01Z [Term] id: DOID:9006619 name: Epidermolysis Bullosa Dystrophica Neurotrophica alt_id: MIM:226500 synonym: "EBR3" EXACT [] synonym: "epidermolysis bullosa progressiva, recessive" EXACT [] synonym: "epidermolysis bullosa with congenital deafness" EXACT [] xref: MESH:C562637 is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:9006620 name: Leukoencephalopathy, Motor Delay, Spasticity, and Dysarthria Syndrome synonym: "EIF2AK1-related condition" BROAD [] synonym: "LEMSPAD" EXACT [] synonym: "LEMSPAD syndrome" EXACT [] xref: MIM:618878 is_a: DOID:9001722 ! Dysarthria is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2020-07-10T10:46:26Z [Term] id: DOID:9006621 name: Noble Bass Sherman Syndrome synonym: "Ectopia lentis chorioretinal dystrophy myopia" EXACT [] xref: MESH:C536124 xref: RDO:0001567 is_a: DOID:11830 ! myopia is_a: DOID:1417 ! choroid disease is_a: DOID:225 ! syndrome is_a: DOID:8466 ! retinal degeneration is_a: DOID:9004201 ! Ectopia Lentis [Term] id: DOID:9006622 name: Enterotoxemia def: "Disease caused by the liberation of exotoxins of CLOSTRIDIUM PERFRINGENS in the intestines of sheep, goats, cattle, foals, and piglets. Type B enterotoxemia in lambs is lamb dysentery; type C enterotoxemia in mature sheep produces 'struck', and in calves, lambs and piglets it produces hemorrhagic enterotoxemia; type D enterotoxemia in sheep and goats is pulpy-kidney disease or overeating disease." [MESH:D004767] synonym: "Enterotoxemias" EXACT [] xref: EFO:1000922 xref: MESH:D004767 is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9006732 ! Clostridium Infections [Term] id: DOID:9006623 name: Murine Acquired Immunodeficiency Syndrome def: "Acquired defect of cellular immunity that occurs in mice infected with mouse leukemia viruses (MuLV). The syndrome shows striking similarities with human AIDS and is characterized by lymphadenopathy, profound immunosuppression, enhanced susceptibility to opportunistic infections, and B-cell lymphomas." [MESH:D016183] synonym: "MAIDS" EXACT [] synonym: "Murine Acquired Immune Deficiency Syndrome" EXACT [] synonym: "Murine Acquired Immuno Deficiency Syndrome" EXACT [] synonym: "Murine AIDS" EXACT [] xref: MESH:D016183 is_a: DOID:225 ! syndrome is_a: DOID:9004886 ! Tumor Virus Infections is_a: DOID:9004990 ! Rodent Diseases is_a: DOID:9006644 ! Retroviridae Infections [Term] id: DOID:9006624 name: EVEN-PLUS SYNDROME def: "A syndrome characterized by prenatal-onset short stature, vertebral and epiphyseal changes, microtia, midface hypoplasia with flat nose and triangular nares, cardiac malformations, and other findings including anal atresia, hypodontia, and aplasia cutis. (OMIM)" [] synonym: "EPIPHYSEAL AND VERTEBRAL DYSPLASIA, MICROTIA, AND FLAT NOSE, PLUS ASSOCIATED MALFORMATIONS" EXACT [] synonym: "EVPLS" EXACT [] xref: MIM:616854 is_a: DOID:0080006 ! bone development disease is_a: DOID:225 ! syndrome is_a: DOID:9001502 ! Congenital Microtia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006625 name: NEMO Mutation with Immunodeficiency synonym: "NF-kappa B essential modulator (NEMO) mutation with immunodeficiency" EXACT [] xref: MESH:C538399 xref: RDO:0004376 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9006626 name: Parkinson's Disease 5 alt_id: RDO:0014499 synonym: "PARK5" EXACT [] synonym: "Parkinson's disease 5, autosomal dominant, susceptibility to" RELATED [] synonym: "Parkinson Disease 5" EXACT [] synonym: "Parkinson disease 5, autosomal dominant, susceptibility to" RELATED [] xref: MESH:C566017 xref: MIM:613643 is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:9006627 name: Cortical Blindness, Retardation, and Postaxial Polydactyly alt_id: MIM:218010 xref: MESH:C565674 is_a: DOID:1059 ! intellectual disability is_a: DOID:11831 ! cortical blindness is_a: DOID:9001487 ! Facies is_a: DOID:9003071 ! Postaxial Polydactyly [Term] id: DOID:9006628 name: Cleidocranial Dysplasia 2 def: "A disease characterized by clavicular anomalies, ranging from unilateral 'clavicula bipartita' to bilateral clavicular aplasia, and dental anomalies, including delayed or absent eruption of deciduous teeth and supernumerary teeth. Caused by heterozygous mutation in the CBFB gene on chromosome 16q22." [MIM:620099] synonym: "CCD2" EXACT [] synonym: "CLCD2" EXACT [] xref: MIM:620099 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2022-10-27T13:23:24Z [Term] id: DOID:9006629 name: Granddad Syndrome alt_id: MIM:138920 synonym: "Growth Retardation, Aged Facies, Normal Development, Decreased Subcutaneous Fat, Autosomal Dominant Inheritance" EXACT [] xref: MESH:C564211 is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9006630 name: Stargardt Disease 1 synonym: "FFM" RELATED [] synonym: "fundus flavimaculatus" RELATED [] synonym: "GENERALIZED CHORIOCAPILLARIS DYSTROPHY" RELATED [] synonym: "Macular dystrophy with flecks type 1" EXACT [] synonym: "Stargardt disease, recessive" EXACT [] synonym: "STGD1" EXACT [] xref: MIM:248200 xref: MONDO:0009549 is_a: DOID:0050817 ! Stargardt disease is_a: DOID:9008818 ! Retinal Dystrophy, Early Onset Severe [Term] id: DOID:9006631 name: Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, and Spongy Degeneration of Brain alt_id: MIM:260970 xref: MESH:C564894 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9006632 name: Keratoconus Posticus Circumscriptus alt_id: MIM:244600 xref: MESH:C536151 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9006633 name: Chromosome 7, Trisomy 7p13 p12 2 synonym: "Duplication 7p13 p12.2" EXACT [] synonym: "Trisomy 7p13 p12 2" EXACT [] xref: MESH:C537820 xref: RDO:0003724 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9006635 name: Hyponatremia alt_id: MIM:613508 def: "Deficiency of sodium in the blood; salt depletion. (Dorland, 27th ed)" [MESH:D007010] synonym: "carbamazepine-induced hyponatremia" NARROW [] synonym: "Hyponatremias" EXACT [] synonym: "thiazide-induced hyponatremia" NARROW [] xref: EFO:0008349 xref: EFO:0009894 xref: EFO:0009895 xref: MESH:D007010 xref: RDO:0005862 is_a: DOID:9004004 ! Water-Electrolyte Imbalance [Term] id: DOID:9006636 name: Heartwater Disease def: "A tick-borne septicemic disease of domestic and wild ruminants caused by EHRLICHIA RUMINANTIUM." [MESH:D006357] xref: EFO:1000960 xref: MESH:D006357 is_a: DOID:10242 ! ehrlichiosis is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9006637 name: Schizencephaly def: "Cortical malformations characterized by grey matter-lined cleft or cyst that extends from the EPENDYMA often to the PIA MATER outer surface. The grey matter that lines the cleft is often POLYMICROGYRIA. It is associated with developmental delay, motor disturbance and seizures. Some patients with schizencephaly have mutations in the EMX2, SIX3, or SHH genes." [MESH:D065707] synonym: "familial schizencephaly" EXACT [] synonym: "Schizencephalic Cleft" EXACT [] synonym: "schizencephalic clefts" EXACT [] synonym: "Schizencephalic Cyst" EXACT [] synonym: "schizencephalic cysts" EXACT [] synonym: "schizencephalies" EXACT [] xref: MESH:C538514 xref: MESH:D065707 xref: MIM:269160 xref: MONDO:0010011 xref: NCI:C99056 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:9001684 ! Malformations of Cortical Development, Group III [Term] id: DOID:9006638 name: Sinus Tachycardia def: "Simple rapid heartbeats caused by rapid discharge of impulses from the SINOATRIAL NODE, usually between 100 and 180 beats/min in adults. It is characterized by a gradual onset and termination. Sinus tachycardia is common in infants, young children, and adults during strenuous physical activities." [MESH:D013616] synonym: "Sinus Tachycardias" EXACT [] xref: MESH:D013616 is_a: DOID:9000006 ! Supraventricular Tachycardia [Term] id: DOID:9006639 name: Skeletal Dysplasia with Telangiectases and Mesodermal Dysgenesis of the Iris xref: MESH:C564819 xref: RDO:0013652 is_a: DOID:2732 ! Rothmund-Thomson syndrome [Term] id: DOID:9006642 name: Experimental Autoimmune Uveoretinitis def: "An experimental animal model use for the study of retinitis combined with uveitis. It is commonly induced with interphotoreceptor retinoid-binding protein (IRBP) (relapsing EAU) or retinal S-Antigen (monophasic EAU)." [] synonym: "EAU" EXACT [] xref: RDO:9000024 is_a: DOID:3612 ! retinitis is_a: DOID:9005647 ! Experimental Autoimmune Uveitis [Term] id: DOID:9006643 name: Pseudofolliculitis Barbae alt_id: MIM:612318 synonym: "Ingrown Hairs" EXACT [] synonym: "PFB" EXACT [] synonym: "Pili Incarnati" EXACT [] synonym: "Pseudofolliculitis Barbae, Susceptibility To" RELATED [] xref: MESH:C563016 xref: RDO:0012478 is_a: DOID:421 ! hair disease [Term] id: DOID:9006644 name: Retroviridae Infections def: "Virus diseases caused by the RETROVIRIDAE." [MESH:D012192] synonym: "Retroviridae Infection" EXACT [] synonym: "Retrovirus Infection" EXACT [] synonym: "Retrovirus Infections" EXACT [] xref: MESH:D012192 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9006645 name: Parasitic Diseases, Animal def: "Animal diseases caused by PARASITES." [MESH:D010273] synonym: "Animal Parasitic Disease" EXACT [] synonym: "Animal Parasitic Infection" EXACT [] synonym: "Animal Parasitic Infections" EXACT [] xref: MESH:D010273 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9006646 name: Metabolic Syndrome def: "A cluster of metabolic risk factors for CARDIOVASCULAR DISEASES and TYPE 2 DIABETES MELLITUS. The major components of metabolic syndrome X include excess ABDOMINAL FAT; atherogenic DYSLIPIDEMIA; HYPERTENSION; HYPERGLYCEMIA; INSULIN RESISTANCE; a proinflammatory state; and a prothrombotic (THROMBOSIS) state. (from AHA/NHLBI/ADA Conference Proceedings, Circulation 2004; 109:551-556)" [] synonym: "Cardiovascular Syndromes, Metabolic" EXACT [] synonym: "dysmetabolic syndrome X" EXACT [] synonym: "Insulin Resistance Syndrome X" EXACT [] synonym: "Metabolic Cardiovascular Syndrome" EXACT [] synonym: "METABOLIC SYNDROME, SUSCEPTIBILITY TO" RELATED [] synonym: "Metabolic Syndrome X" EXACT [] synonym: "Reaven syndrome X" EXACT [] synonym: "SIM1-ASSOCIATED METABOLIC SYNDROME" NARROW [] xref: EFO:0000195 xref: MESH:D024821 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:225 ! syndrome is_a: DOID:9007692 ! Insulin Resistance [Term] id: DOID:9006647 name: Experimental Autoimmune Neuritis def: "An experimental animal model for the demyelinating disease of GUILLAINE-BARRE SYNDROME. In the most frequently used protocol, animals are injected with a peripheral nerve tissue protein homogenate. After approximately 2 weeks the animals develop a neuropathy secondary to a T cell-mediated autoimmune response directed towards the MYELIN P2 PROTEIN in peripheral nerves. Pathologic findings include a perivascular accumulation of macrophages and T lymphocytes in the peripheral nervous system, similar to that seen in the Guillaine-Barre syndrome. (From Adams et al., Principles of Neurology, 6th ed, p1314; J Neuroimmunol 1998 Apr 1;84(1):40-52)" [MESH:D009444] synonym: "EAN (Experimental Allergic Neuritis)" EXACT [] synonym: "EAN (Experimental Autoimmune Neuritis)" EXACT [] synonym: "Experimental Allergic Neuritis" EXACT [] synonym: "experimental autoimmune neuropathies" EXACT [] synonym: "experimental autoimmune neuropathy" EXACT [] xref: MESH:D009444 is_a: DOID:1803 ! neuritis is_a: DOID:9000990 ! Experimental Nervous System Autoimmune Disease [Term] id: DOID:9006648 name: Hernandez Fragoso Syndrome alt_id: MIM:601220 synonym: "osteoporosis and oculocutaneous hypopigmentation syndrome" EXACT [] synonym: "osteoporosis-oculocutaneous hypopigmentation syndrome" EXACT [] xref: MESH:C536062 is_a: DOID:11476 ! osteoporosis is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:5614 ! eye disease is_a: DOID:9005660 ! Hypopigmentation [Term] id: DOID:9006649 name: Prolapse def: "The protrusion of an organ or part of an organ into a natural or artificial orifice." [MESH:D011391] synonym: "Prolapses" EXACT [] xref: MESH:D011391 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9006650 name: Anisocoria alt_id: MIM:106240 def: "Unequal pupil size, which may represent a benign physiologic variant or a manifestation of disease. Pathologic anisocoria reflects an abnormality in the musculature of the iris (IRIS DISEASES) or in the parasympathetic or sympathetic pathways that innervate the pupil. Physiologic anisocoria refers to an asymmetry of pupil diameter, usually less than 2mm, that is not associated with disease." [MESH:D015875] synonym: "Physiologic Anisocoria" EXACT [] synonym: "Pupil Diameter Unequal" EXACT [] synonym: "Pupillary Size Inequality" EXACT [] xref: MESH:D015875 is_a: DOID:238 ! pupil disease [Term] id: DOID:9006652 name: Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type synonym: "RPL13-RELATED CONDITION" EXACT [] synonym: "SEMDIST" EXACT [] xref: MIM:618728 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia created_by: mtutaj creation_date: 2020-01-07T11:13:56Z [Term] id: DOID:9006653 name: Gastric Ischemia def: "A hypoperfusion of the blood through the stomach caused by a pathologic constriction or obstruction of its blood vessels, or an absence of blood circulation." [] synonym: "hypoperfusion of the stomach" EXACT [] synonym: "stomach ischemia" EXACT [] is_a: DOID:326 ! ischemia is_a: DOID:76 ! stomach disease created_by: rgd creation_date: 2017-06-26T00:00:00Z [Term] id: DOID:9006654 name: Familial Thoracic Aortic Aneurysm 9 synonym: "AAT9" EXACT [] synonym: "MFAP5-RELATED CONDITION" EXACT [] xref: MIM:616166 is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:9006655 name: GSD IV, Neuromuscular Form, Fatal Perinatal xref: MESH:C565541 xref: RDO:0014149 is_a: DOID:2750 ! glycogen storage disease IV is_a: DOID:440 ! neuromuscular disease [Term] id: DOID:9006656 name: Familial Hypokalemia alt_id: MIM:241150 synonym: "familial hypokalemic alkalosis with specific renal tubulopathy" EXACT [] synonym: "Gullner Syndrome" EXACT [] xref: MESH:C562654 is_a: DOID:4500 ! hypokalemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9006657 name: Colon Diverticulum def: "A pouch or sac opening from the COLON." [MESH:D004241] synonym: "colon diverticula" EXACT [] synonym: "Colonic Diverticula" EXACT [] synonym: "colonic diverticulum" EXACT [] xref: EFO:1001296 xref: MESH:D004241 is_a: DOID:9001008 ! Diverticulum [Term] id: DOID:9006659 name: Nonpenetrating Wounds def: "Injuries caused by impact with a blunt object where there is no penetration of the skin." [MESH:D014949] synonym: "Blunt Injuries" EXACT [] synonym: "Blunt Injury" EXACT [] synonym: "Nonpenetrating Injuries" EXACT [] synonym: "Nonpenetrating Injury" EXACT [] synonym: "Nonpenetrating Wound" EXACT [] xref: MESH:D014949 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9006660 name: Tessadori-van Haaften Neurodevelopmental Syndrome 2 def: "This disease is characterized by poor overall growth, profound global developmental delay with absent speech, and characteristic dysmorphic facial features, including hypertelorism, abnormal nose, and wide mouth." [MIM:619759] synonym: "TEVANED2" EXACT [] xref: MIM:619759 is_a: DOID:9008554 ! Tessadori-van Haaften Neurodevelopmental Syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulede creation_date: 2022-03-29T14:15:36Z [Term] id: DOID:9006661 name: Phagocytosis, Plasma-Related Defect in alt_id: MIM:171100 xref: MESH:C566808 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9006662 name: Chromosome 1, Monosomy 1p synonym: "Deletion 1p" EXACT [] synonym: "Monosomy 1p" EXACT [] xref: MESH:C535591 xref: RDO:0000809 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006663 name: Congenital Dislocation of Hip, with Hyperextensibility of Fingers and Facial Dysmorphism alt_id: MIM:601450 alt_id: RDO:0012608 xref: MESH:C563315 is_a: DOID:9001487 ! Facies is_a: DOID:9005077 ! Joint Instability is_a: DOID:9005560 ! Congenital Hip Dislocation [Term] id: DOID:9006664 name: Spastic Paraplegia 92, Autosomal Recessive def: "A slowly progressive neurodegenerative disorder with onset of lower limb spasticity and gait abnormalities in the first (more common) or second decade of life. Caused by homozygous or compound heterozygous mutation in the FICD gene on chromosome 12q23." [MIM:620911] synonym: "SPG92" EXACT [] xref: MIM:620911 is_a: DOID:2476 ! hereditary spastic paraplegia created_by: tutajm creation_date: 2024-08-19T11:25:38Z [Term] id: DOID:9006665 name: Arenavirus hemorrhagic fever def: "This is a viral infectious disease that involves fever and bleeding disorder caused by Arenavirus." [EFO:0007151] synonym: "arenaviral hemorrhagic fever" EXACT [] xref: EFO:0007151 is_a: DOID:3944 ! Arenaviridae infectious disease is_a: DOID:9007401 ! Viral Hemorrhagic Fevers created_by: slaulede creation_date: 2022-09-12T12:25:49Z [Term] id: DOID:9006666 name: Idiopathic Orthostatic Hypotension xref: MESH:C544351 xref: RDO:0004624 is_a: DOID:9005649 ! Pure Autonomic Failure is_a: DOID:9005950 ! Orthostatic Hypotension [Term] id: DOID:9006667 name: Dysosteosclerosis alt_id: MIM:224300 xref: MESH:C562973 is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:9006668 name: Frostbite def: "Damage to tissues as the result of low environmental temperatures." [MESH:D005627] synonym: "Frostbites" EXACT [] xref: EFO:0009527 xref: MESH:D005627 is_a: DOID:9001600 ! Wounds and Injuries is_a: DOID:9001959 ! Cold Injury [Term] id: DOID:9006669 name: Thrombocytopenia 9 def: "An autosomal dominant condition characterized by low platelet counts in the absence of significant bleeding tendency. Caused by heterozygous mutation in the THPO gene on chromosome 3q27." [MIM:620478] synonym: "THC9" EXACT [] synonym: "Thrombocytopenia, autosomal dominant 9" EXACT [] xref: MIM:620478 is_a: DOID:1588 ! thrombocytopenia created_by: mtutaj creation_date: 2023-09-01T09:13:59Z [Term] id: DOID:9006670 name: Congenital Muscular Dystrophy with Severe Central Nervous System Atrophy and Absence of Large Myelinated Fibers alt_id: MIM:601170 xref: MESH:C563378 is_a: DOID:0050557 ! congenital muscular dystrophy is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:9006671 name: ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET def: "This disease is a neurodevelopmental disorder characterized by delayed walking due to ataxia, intention tremor, and hypotonia apparent from early childhood. Affected individuals have global developmental delay with mildly impaired intellectual development and speech delay or learning disabilities." [MIM:619352] synonym: "ATITHS" EXACT [] synonym: "childhood-onset ataxia, intention tremor, and hypotonia syndrome" EXACT [] xref: MIM:619352 is_a: DOID:9000495 ! Tremor is_a: DOID:9004866 ! Ataxia is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2021-08-10T18:01:24Z [Term] id: DOID:9006672 name: Hemoglobin SC Disease def: "One of the sickle cell disorders characterized by the presence of both hemoglobin S and hemoglobin C. It is similar to, but less severe than sickle cell anemia." [MESH:D006450] synonym: "Hb-S/Hb-C disease" EXACT [] synonym: "Hb SC disease" EXACT [] synonym: "hemoglobin SC diseases" EXACT [] synonym: "SC disease" EXACT [] synonym: "SC diseases" EXACT [] synonym: "sickle cell hemoglobin C disease" EXACT [] xref: EFO:1001797 xref: MESH:D006450 is_a: DOID:10923 ! sickle cell anemia [Term] id: DOID:9006673 name: AURONEURODENTAL SYNDROME def: "This disease is an autosomal recessive disorder characterized by progressive high-frequency sensorineural hearing loss, mild proximal and axial muscle weakness, and dental anomalies." [OMIM:620830] synonym: "ANDS" EXACT [] xref: OMIM:620830 is_a: DOID:9005532 ! Muscle Weakness is_a: DOID:9008455 ! High-Frequency Hearing Loss is_a: DOID:9009007 ! Tooth Abnormalities created_by: slaulederkind creation_date: 2024-07-09T11:04:30Z [Term] id: DOID:9006674 name: MHC CLASS II DEFICIENCY 4 def: "This disease is an autosomal recessive immunodeficiency characterized by the onset of recurrent, persistent infections from birth, resulting in failure to thrive. Infectious agents include bacteria, viruses, fungi, and protozoa, usually affecting the respiratory and gastrointestinal tract. Laboratory studies show decreased CD4+ T cells, hypogammaglobulinemia, an inverted CD4:CD8 ratio, and absence of MHC type II antigens (HLA-DR, -DQ, and DP) on the surface of antigen-presenting cells." [MIM:620817] synonym: "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP D" EXACT [] synonym: "MHC2D4" EXACT [] xref: MIM:620817 is_a: DOID:5812 ! MHC class II deficiency created_by: slaulederkind creation_date: 2024-06-14T10:38:24Z [Term] id: DOID:9006675 name: Hyperparathyroidism 1 synonym: "familial parathyroid adenoma" EXACT [] synonym: "FIHP PARATHYROID ADENOMA, FAMILIAL" NARROW [] synonym: "HRPT1" EXACT [] synonym: "HYPERPARATHYROIDISM, FAMILIAL ISOLATED PRIMARY" NARROW [] xref: MESH:C564166 xref: MIM:145000 xref: MONDO:0007767 is_a: DOID:9009250 ! Familial Isolated Hyperparathyroidism [Term] id: DOID:9006676 name: Micronuclei, Chromosome-Defective def: "Defective nuclei produced during the TELOPHASE of MITOSIS or MEIOSIS by lagging CHROMOSOMES or chromosome fragments derived from spontaneous or experimentally induced chromosomal structural changes." [MESH:D048629] synonym: "Chromosome-Defective Micronucleus" EXACT [] synonym: "Genotoxicant Induced Micronuclei" EXACT [] synonym: "Genotoxicant-Induced Micronucleus" EXACT [] xref: EFO:1001778 xref: MESH:D048629 xref: RDO:0007551 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9006677 name: Salcedo Syndrome alt_id: MIM:256020 synonym: "focal segmental glomerulosclerosis 10" EXACT [] synonym: "FSGS10" EXACT [] synonym: "glomerular basement membrane disease, nail-patella syndrome type" EXACT [] synonym: "LMX1B-RELATED CONDITION" BROAD [] synonym: "nail patella like renal disease" EXACT [] xref: MESH:C537228 is_a: DOID:1312 ! focal segmental glomerulosclerosis is_a: DOID:9467 ! nail-patella syndrome [Term] id: DOID:9006678 name: Somatic Colonic Adenocarcinoma def: "An adenocarcinoma arising from the colon, caused by a somatic mutation. Histologic variants include mucinous adenocarcinoma, signet ring cell carcinoma, medullary carcinoma, serrated adenocarcinoma, cribriform comedo-type adenocarcinoma, and micropapillary adenocarcinoma." [] xref: RDO:9000696 is_a: DOID:234 ! colon adenocarcinoma [Term] id: DOID:9006679 name: Peripheral Cone Dystrophy alt_id: MIM:609021 xref: MESH:C563813 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9006680 name: Hyperventilation def: "A pulmonary ventilation rate faster than is metabolically necessary for the exchange of gases. It is the result of an increased frequency of breathing, an increased tidal volume, or a combination of both. It causes an excess intake of oxygen and the blowing off of carbon dioxide." [MESH:D006985] synonym: "hyperventilations" EXACT [] xref: MESH:D006985 is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9006681 name: Multiple mitochondrial dysfunctions syndrome 10 def: "An autosomal recessive disorder characterized by proximal and axial muscle weakness, fluctuating creatine kinase elevation, and respiratory insufficiency, caused by compound heterozygous mutation in the CIAO1 gene on chromosome 2q11." [] synonym: "MMDS10" EXACT [] xref: MIM:620960 is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome created_by: tutajm creation_date: 2024-10-03T15:04:04Z [Term] id: DOID:9006683 name: Congenital Adrenal Hyperplasia, Type 5 alt_id: MIM:202110 synonym: "17-alpha-hydroxylase deficiency" EXACT [] synonym: "17-ALPHA-HYDROXYLASE DEFICIENCY 17,20-LYASE DEFICIENCY, ISOLATED" RELATED [] synonym: "Adrenal hyperplasia, congenital due to 17-alpha-hydroxylase deficiency" EXACT [] synonym: "Adrenal Hyperplasia V" EXACT [] xref: MESH:C538237 is_a: DOID:0050811 ! congenital adrenal hyperplasia [Term] id: DOID:9006684 name: Inflammatory Breast Neoplasms def: "Metastatic breast cancer characterized by EDEMA and ERYTHEMA of the affected breast due to LYMPHATIC METASTASIS and eventual obstruction of LYMPHATIC VESSELS by the cancer cells." [] synonym: "inflammatory breast cancer" EXACT [] synonym: "Inflammatory Breast Cancer (IBC)" EXACT [] synonym: "Inflammatory Breast Cancers" EXACT [] synonym: "inflammatory breast neoplasm" EXACT [] xref: MESH:D058922 is_a: DOID:9008939 ! Breast Neoplasms [Term] id: DOID:9006685 name: Microcephaly, Short Stature, and Impaired Glucose Metabolism 1 synonym: "MSSGM1" EXACT [] xref: MIM:616033 is_a: DOID:9008578 ! Microcephaly, Short Stature, and Impaired Glucose Metabolism [Term] id: DOID:9006686 name: Rajab Interstitial Lung Disease with Brain Calcifications 1 synonym: "DEVELOPMENTAL DELAY, SMALL STATURE, MICROCEPHALY, AND BRAIN CALCIFICATIONS" EXACT [] synonym: "FARSB-RELATED CONDITION" EXACT [] synonym: "NEDBLLA" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN, LIVER, AND LUNG ABNORMALITIES" EXACT [] synonym: "RILDBC1" EXACT [] xref: MIM:613658 xref: MONDO:0100215 is_a: DOID:10907 ! microcephaly is_a: DOID:9001942 ! Rajab Interstitial Lung Disease with Brain Calcifications is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9006687 name: Annular Erythema alt_id: MIM:106500 xref: MESH:C562461 xref: MONDO:0007128 is_a: DOID:9006976 ! Erythema is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9006689 name: Neural Tube Defects X-Linked alt_id: MIM:301410 alt_id: RDO:0001992 synonym: "Anencephaly-Spina Bifida" EXACT [] xref: MESH:C536410 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080074 ! neural tube defect [Term] id: DOID:9006690 name: Vitelliform Macular Dystrophy 5 def: "A disease characterized by late-onset moderate visual impairment, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculopathy (EOG). (OMIM)" [] synonym: "MACULAR DYSTROPHY, RETINAL, 5" EXACT [] synonym: "MACULOPATHY, IMPG2-RELATED" EXACT [] synonym: "VMD5" EXACT [] xref: MIM:616152 xref: MONDO:0014509 is_a: DOID:0050661 ! vitelliform macular dystrophy created_by: rgd creation_date: 2017-05-04T00:00:00Z [Term] id: DOID:9006691 name: Erysipelothrix Infections def: "Infections with bacteria of the genus ERYSIPELOTHRIX." [MESH:D004889] synonym: "Erysipelothrix Infection" EXACT [] synonym: "Erysipelothrix infectious disease" EXACT [] xref: EFO:1000927 xref: MESH:D004889 xref: MONDO:0006751 is_a: DOID:9002823 ! Gram-Positive Bacterial Infections is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9006692 name: Hutterite Cerebroosteonephrodysplasia Syndrome synonym: "Cerebroosteonephrosis syndrome" EXACT [] synonym: "Congenital shortness with mild spondylorhizomelic dwarfism" EXACT [] xref: MESH:C536074 xref: MIM:236450 xref: MONDO:0009358 is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9006693 name: ALAD-Deficiency Porphyria alt_id: MIM:612740 synonym: "acute hepatic porphyria" EXACT [] synonym: "ADP" EXACT [] synonym: "ALAD Deficiency" EXACT [] synonym: "ALA-dehydratase deficient porphyria" EXACT [] synonym: "ALAD porphyria" EXACT [] synonym: "Delta-Aminolevulinate Dehydratase Deficiency" EXACT [] synonym: "Doss Porphyria" EXACT [] synonym: "LEAD POISONING, SUSCEPTIBILITY TO" RELATED [] synonym: "Porphobilinogen Synthase Deficiency" EXACT [] synonym: "PORPHYRIA, ACUTE HEPATIC" EXACT [] synonym: "PORPHYRIA, ACUTE HEPATIC, DIGENIC" NARROW [] xref: MESH:C562618 xref: NCI:C133887 is_a: DOID:3133 ! acute porphyria is_a: DOID:9005584 ! Hepatic Porphyrias [Term] id: DOID:9006694 name: Sacrococcygeal Dysgenesis Association xref: MESH:C537225 xref: RDO:0003015 is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9006695 name: Orbital Margin, Hypoplasia of alt_id: MIM:165600 xref: MESH:C563490 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006696 name: Spastic Paraplegia with Myoclonic Epilepsy alt_id: MIM:270805 xref: MESH:C564810 is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:9006697 name: Congenital Hepatic Fibrosis def: "A congenital disorder usually inherited in an autosomal recessive pattern. It affects the hepatobiliary system and the kidneys. It is characterized by liver fibrosis, portal hypertension, and renal cysts. (NCI)" [] synonym: "Congenital Fibrose Liver" EXACT [] xref: MESH:C562378 xref: NCI:C97071 is_a: DOID:5082 ! liver cirrhosis is_a: DOID:630 ! genetic disease [Term] id: DOID:9006698 name: Vaginal Neoplasms def: "Tumors or cancer of the VAGINA." [MESH:D014625] synonym: "neoplasm of vagina" EXACT [] synonym: "Vaginal Neoplasm" EXACT [] synonym: "vaginal tumor" EXACT [] synonym: "Vagina Neoplasm" EXACT [] synonym: "vagina neoplasms" EXACT [] xref: EFO:1001447 xref: MESH:D014625 is_a: DOID:121 ! vaginal disease is_a: DOID:9007399 ! Female Genital Neoplasms [Term] id: DOID:9006699 name: Abnormal Fusion of Dental Cementum with Alveolar Bone synonym: "Molar I reinclusion" EXACT [] synonym: "Secondary retention of permanent molars" EXACT [] xref: MESH:C536375 is_a: DOID:12661 ! tooth ankylosis [Term] id: DOID:9006700 name: APOLIPOPROTEIN A-II DEFICIENCY xref: MIM:107670 is_a: DOID:3146 ! lipid metabolism disorder created_by: rgd creation_date: 2017-01-11T00:00:00Z [Term] id: DOID:9006701 name: Reproductive Tract Infections alt_id: RDO:0010047 def: "Infections of the genital tract in females or males. They can be caused by endogenous, iatrogenic, or sexually transmitted organisms." [MESH:D060737] synonym: "Genital Tract Infection" EXACT [] synonym: "Genital Tract Infections" EXACT [] synonym: "Reproductive Tract Infection" EXACT [] xref: MESH:D060737 is_a: DOID:229 ! female reproductive system disease is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:9006703 name: Microcephaly Microcornea Syndrome Seemanova Type alt_id: RDO:0003398 xref: MESH:C537539 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:7400 ! Nijmegen breakage syndrome [Term] id: DOID:9006704 name: Schlegelberger Grote Syndrome synonym: "Syndrome with triphalangia of thumbs, thrombasthenia Glanzmann and deafness of internal ear" EXACT [] synonym: "Triphalangeal thumbs thrombocytopathy deafness" EXACT [] xref: MESH:C536635 xref: RDO:0002272 is_a: DOID:2219 ! Glanzmann's thrombasthenia is_a: DOID:225 ! syndrome is_a: DOID:9005835 ! Congenital Abnormalities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9006705 name: Immunodeficiency 95 def: "An autosomal recessive disorder characterized predominantly by the onset of recurrent and severe viral respiratory infections in infancy or early childhood. Caused by homozygous loss-of-function mutation in the IFIH1 gene on chromosome 2q24." [MIM:619773] synonym: "HEREDITARY PREDISPOSITION TO INFECTIONS" BROAD [] synonym: "IMD95" EXACT [] xref: MIM:619773 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2022-03-08T11:26:50Z [Term] id: DOID:9006706 name: Rasmussen Johnsen Thomsen Syndrome alt_id: MIM:133705 synonym: "EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS" EXACT [] synonym: "Inherited congenital bilateral atresia of the external auditory canal, congenital bilateral vertical talus and increased interocular distance" EXACT [] xref: MESH:C535290 is_a: DOID:225 ! syndrome is_a: DOID:9588 ! encephalitis [Term] id: DOID:9006707 name: Hypomandibular Faciocranial Dysostosis alt_id: MIM:241310 xref: MESH:C537154 is_a: DOID:2339 ! Crouzon syndrome [Term] id: DOID:9006708 name: PSEUDOHYPOALDOSTERONISM, TYPE IB3, AUTOSOMAL RECESSIVE def: "This disease is characterized by renal salt wasting and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially threatening in the neonatal period. Laboratory evaluation shows hyponatremia, hyperkalemia, and increased plasma renin activity with high serum aldosterone concentrations. Respiratory tract infections are common in affected children and may be mistaken for cystic fibrosis. Aggressive salt replacement and control of hyperkalemia results in survival, and the disorder appears to become less severe with age" [MIM:620126] synonym: "autosomal recessive pseudohypoaldosteronism type IB3" EXACT [] synonym: "PHA1B3" EXACT [] xref: MIM:620126 is_a: DOID:0060854 ! autosomal recessive pseudohypoaldosteronism type 1 created_by: slaulede creation_date: 2023-03-02T12:22:04Z [Term] id: DOID:9006709 name: Primary Graft Dysfunction def: "A form of ischemia-reperfusion injury occurring in the early period following transplantation. Significant pathophysiological changes in MITOCHONDRIA are the main cause of the dysfunction. It is most often seen in the transplanted lung, liver, or kidney and can lead to GRAFT REJECTION." [MESH:D055031] xref: MESH:D055031 is_a: DOID:9004009 ! Reperfusion Injury is_a: DOID:9004283 ! Transplant Rejection [Term] id: DOID:9006711 name: Epidermolysis Bullosa Pruriginosa alt_id: MIM:604129 synonym: "DEB, PRURIGINOSA" EXACT [] synonym: "Dystrophic Epidermolysis Bullosa Pruriginosa" EXACT [] synonym: "epidermolysis bullosa pruriginosa, autosomal dominant" NARROW [] synonym: "epidermolysis bullosa pruriginosa, autosomal recessive" NARROW [] xref: MESH:C563192 is_a: DOID:4959 ! epidermolysis bullosa dystrophica [Term] id: DOID:9006712 name: ICHTHYOTIC KERATODERMA, SPASTICITY, HYPOMYELINATION, AND DYSMORPHIC FACIAL FEATURES def: "A disease characterized by epidermal hyperproliferation and increased keratinization, resulting in ichthyosis; hypomyelination of central white matter, causing spastic paraplegia and central nystagmus; and optic atrophy, resulting in reduction of peripheral vision and visual acuity." [MIM:618527] synonym: "Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies" EXACT [] synonym: "IKSHD" EXACT [] xref: MIM:618527 is_a: DOID:1697 ! ichthyosis is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2019-09-12T15:38:31Z [Term] id: DOID:9006713 name: Spinocerebellar Ataxia 27B def: "An autosomal dominant neurodegenerative disorder characterized by the onset of gait and appendicular ataxia in adulthood, usually around age 55 (range 30 to late eighties). Caused by a heterozygous trinucleotide repeat expansion (GAAn) in the FGF14 gene on chromosome 13q33." [MIM:620174] synonym: "SCA27B" EXACT [] synonym: "Spinocerebellar ataxia 27B, late-onset" EXACT [] xref: MIM:620174 is_a: DOID:0050976 ! spinocerebellar ataxia type 27 created_by: mtutaj creation_date: 2023-01-04T13:32:32Z [Term] id: DOID:9006714 name: Crumpled Helices and Small Mouth alt_id: MIM:605945 synonym: "Sparse hair, prominent nose, small mouth, micrognathia, cleft palate, crumpled upper helices, digit anomaly, and mild developmental delay" EXACT [] xref: MESH:C536217 is_a: DOID:674 ! cleft palate is_a: DOID:9001487 ! Facies is_a: DOID:9005616 ! Micrognathism is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006715 name: Filoviridae Infections def: "Infections with viruses of the family FILOVIRIDAE. The infections in humans consist of a variety of clinically similar viral hemorrhagic fevers but the natural reservoir host is unknown." [MESH:D018702] synonym: "Filoviridae Infection" EXACT [] xref: EFO:0007273 xref: MESH:D018702 is_a: DOID:9007829 ! Mononegavirales Infections [Term] id: DOID:9006716 name: Neurodevelopmental Disorder with Microcephaly, Cortical Malformations, and Spasticity def: "An autosomal recessive disorder characterized by severe to profound global developmental delay, early-onset seizures, microcephaly, and polymicrogyria and/or cerebral atrophy on brain imaging." [MIM:618730] synonym: "NEDMCMS" EXACT [] synonym: "VANDERVORE-SCHOT SYNDROME" EXACT [] xref: MIM:618730 is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2020-02-14T13:19:24Z [Term] id: DOID:9006717 name: Ascending Aortic Aneurysm, Hypertelorism, Bifid Uvula, Cleft Palate, and Arterial Tortuosity xref: MESH:C531732 xref: RDO:0000152 is_a: DOID:0050466 ! Loeys-Dietz syndrome [Term] id: DOID:9006718 name: Banki Syndrome alt_id: MIM:109300 xref: MESH:C566228 is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9006719 name: Bethlem Myopathy 1B def: "A congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Caused by heterozygous mutation in the COL6A2 gene on chromosome 21q22." [MIM:620725] synonym: "BTHLM1B" EXACT [] xref: MIM:620725 xref: MONDO:0958233 is_a: DOID:0050663 ! Bethlem myopathy created_by: tutajm creation_date: 2024-03-18T10:49:40Z [Term] id: DOID:9006720 name: CONGENITAL SMOOTH MUSCLE HAMARTOMA, WITH OR WITHOUT HEMIHYPERTROPHY def: "This disease is a benign skin lesion that presents as an indurated, slightly pigmented or flesh-colored plaque with perifollicular papules or coarse hair. Histopathologically, there is excessive proliferation of ectopic smooth muscle within the dermis. Rarely, CSMH is associated with hemihypertrophy." [MIM:620470] synonym: "CONGENITAL SMOOTH MUSCLE HAMARTOMA, SOMATIC, MOSAIC" EXACT [] synonym: "CONGENITAL SMOOTH MUSCLE HAMARTOMA WITH HEMIHYPERTROPHY, SOMATIC, MOSAIC" NARROW [] synonym: "CSMH" EXACT [] xref: MIM:620470 is_a: DOID:9006221 ! smooth muscle hamartoma created_by: slaulede creation_date: 2023-09-12T13:01:16Z [Term] id: DOID:9006721 name: GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME alt_id: MIM:618820 def: "A disease characterized by variable genitourinary anomalies, including disorders of sex differentiation, and brain abnormalities ranging from agenesis of the corpus callosum to anencephaly." [MIM:618820] synonym: "GUBS" EXACT [] synonym: "PPP1R12A-RELATED CONDITION" EXACT [] is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9006534 ! Nervous System Malformations created_by: slaulede creation_date: 2020-07-13T10:39:08Z [Term] id: DOID:9006722 name: Malocclusion, Angle Class II def: "Malocclusion in which the mandible is posterior to the maxilla as reflected by the relationship of the first permanent molar (distoclusion)." [MESH:D008312] synonym: "Angle Class II" EXACT [] synonym: "Angle Class II, Division 1" EXACT [] synonym: "Angle Class II, Division 2" EXACT [] synonym: "Class II Malocclusion, Division 1" EXACT [] synonym: "Class II Malocclusion, Division 2" EXACT [] synonym: "Malocclusion, Angle Class II, Division 1" EXACT [] synonym: "Malocclusion, Angle Class II, Division 2" EXACT [] xref: MESH:D008312 is_a: DOID:9000121 ! Malocclusion [Term] id: DOID:9006723 name: Osteopenic Nonfracture Syndrome xref: MESH:C567172 is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:225 ! syndrome [Term] id: DOID:9006724 name: Phlebectasia of Lips alt_id: MIM:171450 xref: MESH:C566806 is_a: DOID:9297 ! lip disease [Term] id: DOID:9006725 name: Glucocorticoid Deficiency 2 alt_id: MIM:607398 synonym: "Familial Glucocorticoid Deficiency 2" EXACT [] synonym: "FGD2" EXACT [] synonym: "GCCD2" EXACT [] synonym: "MRAP-RELATED CONDITION" EXACT [] xref: MESH:C564577 is_a: DOID:0080620 ! familial glucocorticoid deficiency is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:9006727 name: Polydipsia def: "Excessive thirst manifested by excessive fluid intake. It is characteristic of many diseases such as DIABETES MELLITUS; DIABETES INSIPIDUS; and NEPHROGENIC DIABETES INSIPIDUS. The condition may be psychogenic in origin." [MESH:D059606] synonym: "Polydipsias" EXACT [] xref: MESH:D059606 is_a: DOID:9000071 ! Signs and Symptoms is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9006728 name: Triple Negative Breast Neoplasms def: "Breast neoplasms that do not express ESTROGEN RECEPTORS; PROGESTERONE RECEPTORS; and do not overexpress the NEU RECEPTOR/HER-2 PROTO-ONCOGENE PROTEIN." [MESH:D064726] synonym: "ER Negative PR Negative HER2 Negative Breast Cancer" EXACT [] synonym: "ER negative PR negative HER2 negative breast neoplasms" EXACT [] synonym: "Triple Negative Breast Cancer" EXACT [] synonym: "Triple-Negative Breast Cancers" EXACT [] synonym: "triple negative breast neoplasm" EXACT [] xref: MESH:D064726 is_a: DOID:9008939 ! Breast Neoplasms [Term] id: DOID:9006729 name: Congenital Disorder of Glycosylation Type IIbb def: "An autosomal recessive disorder characterized by global developmental delay, severely impaired intellectual development, microcephaly, epilepsy, facial dysmorphism, and variable neurologic findings. Caused by homozygous mutation in the COG3 gene on chromosome 13q14." [MIM:620546] synonym: "CDG2BB" EXACT [] synonym: "CDG IIbb" EXACT [] synonym: "CDGIIBB" EXACT [] xref: MIM:620546 is_a: DOID:0050571 ! congenital disorder of glycosylation type II created_by: tutajm creation_date: 2023-10-24T13:33:16Z [Term] id: DOID:9006730 name: Paraneoplastic Endocrine Syndromes alt_id: RDO:0004722 def: "Syndromes resulting from inappropriate production of HORMONES or hormone-like materials by NEOPLASMS in non-endocrine tissues or not by the usual ENDOCRINE GLANDS. Such hormone outputs are called ectopic hormone (HORMONES, ECTOPIC) secretion." [MESH:D009384] synonym: "Ectopic Hormone Syndrome" EXACT [] synonym: "Ectopic Hormone Syndromes" EXACT [] synonym: "Paraneoplastic Endocrine Syndrome" EXACT [] xref: MESH:D009384 is_a: DOID:9007199 ! Paraneoplastic Syndromes is_a: DOID:9007803 ! Endocrine Gland Neoplasms [Term] id: DOID:9006731 name: Hyperlactatemia def: "Increase in blood LACTATE concentration often associated with SEPTIC SHOCK; LUNG INJURY; SEPSIS; and DRUG TOXICITY. When hyperlactatemia is associated with low body pH (acidosis) it is LACTIC ACIDOSIS." [MESH:D065906] synonym: "Hyperlactatemias" EXACT [] xref: MESH:D065906 is_a: DOID:0014667 ! disease of metabolism is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9006732 name: Clostridium Infections def: "Infections with bacteria of the genus CLOSTRIDIUM." [MESH:D003015] synonym: "Clostridium Infection" EXACT [] synonym: "Clostridium infectious disease" EXACT [] synonym: "commensal Clostridium infectious disease" EXACT [] xref: EFO:1000874 xref: MESH:D003015 is_a: DOID:9002823 ! Gram-Positive Bacterial Infections [Term] id: DOID:9006733 name: Stomatognathic System Abnormalities def: "Congenital structural abnormalities of the mouth and jaws, including the dentition." [MESH:D018640] synonym: "stomatognathic system abnormality" EXACT [] xref: MESH:D018640 is_a: DOID:9001349 ! Stomatognathic Diseases is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9006734 name: Dowling-Degos Disease 1 synonym: "DDD1" EXACT [] xref: MIM:179850 is_a: DOID:0060256 ! Dowling-Degos disease created_by: mtutaj creation_date: 2022-10-03T12:21:29Z [Term] id: DOID:9006735 name: Overriding Aorta synonym: "dextraposition of aorta" EXACT [] is_a: DOID:520 ! aortic disease [Term] id: DOID:9006736 name: Gingival Fibromatosis with Hypertrichosis and Mental Retardation alt_id: MIM:605400 xref: MESH:C565331 is_a: DOID:0060466 ! gingival fibromatosis is_a: DOID:1059 ! intellectual disability is_a: DOID:420 ! hypertrichosis is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006737 name: Monoclonal B-Cell Lymphocytosis xref: EFO:0006889 xref: RDO:9000381 is_a: DOID:9001779 ! Lymphocytosis created_by: rgd creation_date: 2016-03-15T00:00:00Z [Term] id: DOID:9006738 name: Hypertension Resistant to Conventional Therapy synonym: "treatment-resistant hypertension" EXACT [] xref: EFO:1002006 xref: MESH:C563514 is_a: DOID:10763 ! hypertension is_a: DOID:11840 ! coronary artery vasospasm [Term] id: DOID:9006740 name: Nathalie Syndrome xref: MESH:C538342 xref: MIM:255990 xref: MONDO:0009721 is_a: DOID:225 ! syndrome is_a: DOID:767 ! muscular atrophy is_a: DOID:83 ! cataract is_a: DOID:9006161 ! Osteochondritis is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008681 ! Deafness [Term] id: DOID:9006741 name: Acute Hepatitis def: "Inflammation of the liver with abrupt onset and lasting for less than 6 months." [] is_a: DOID:2237 ! hepatitis [Term] id: DOID:9006742 name: GSD IV, Nonprogressive Hepatic xref: MESH:C565540 xref: RDO:0014148 is_a: DOID:2750 ! glycogen storage disease IV is_a: DOID:409 ! liver disease [Term] id: DOID:9006743 name: Spasm def: "An involuntary contraction of a muscle or group of muscles. Spasms may involve SKELETAL MUSCLE or SMOOTH MUSCLE." [MESH:D013035] synonym: "Ciliary Body Spasm" EXACT [] synonym: "Ciliary Body Spasms" EXACT [] synonym: "Generalized Spasm" EXACT [] synonym: "Generalized Spasms" EXACT [] synonym: "Muscle Spasm" EXACT [] synonym: "Muscle Spasms" EXACT [] synonym: "Muscular Spasm" EXACT [] synonym: "Muscular Spasms" EXACT [] synonym: "Spasms" EXACT [] xref: MESH:D013035 is_a: DOID:9000165 ! Neuromuscular Manifestations [Term] id: DOID:9006744 name: Familial Lichen Planus alt_id: MIM:151620 xref: MESH:C563624 is_a: DOID:9201 ! lichen planus [Term] id: DOID:9006746 name: Familial Cryptotia alt_id: MIM:123557 xref: MESH:C565140 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9006749 name: Renal Cell Carcinoma, Xp11-Associated synonym: "RCCX1" EXACT [] xref: MIM:300854 xref: RDO:9000493 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:9006750 name: Familial Thoracic Aortic Aneurysm 7 synonym: "AAT7" EXACT [] synonym: "AORTIC DISSECTION, FAMILIAL, WITH OR WITHOUT AORTIC ANEURYSM" EXACT [] xref: MIM:613780 is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:9006751 name: Bellini Chiumello Rimoldi Syndrome xref: MESH:C535652 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9006753 name: Deafness, Autosomal Dominant Nonsyndromic Sensorineural 3 synonym: "Neurosensory nonsyndromic dominant deafness 1" EXACT [] xref: MESH:C538200 xref: RDO:0004143 is_a: DOID:0060140 ! cortical deafness [Term] id: DOID:9006754 name: Marfanoid Mental Retardation Syndrome, Autosomal alt_id: MIM:248770 synonym: "marfanoid habitus and intellectual disability" EXACT [] xref: MESH:C565410 is_a: DOID:1059 ! intellectual disability is_a: DOID:14323 ! Marfan syndrome is_a: DOID:9001487 ! Facies [Term] id: DOID:9006755 name: LEIOMYOMATOSIS, DIFFUSE, WITH ALPORT SYNDROME alt_id: MIM:308940 synonym: "Alport Syndrome And Diffuse Leiomyomatosis" EXACT [] synonym: "Alport syndrome with diffuse leiomyomatosis" EXACT [] synonym: "ATS-DL" EXACT [] synonym: "CHROMOSOME Xq22.3 CENTROMERIC DELETION SYNDROME" EXACT [] synonym: "Diffuse leiomyomatosis in Alport syndrome" EXACT [] synonym: "Leiomyomatosis, Esophageal and Vulval, with Nephropathy" EXACT [] xref: MESH:C537113 is_a: DOID:10983 ! Alport syndrome is_a: DOID:5138 ! leiomyomatosis [Term] id: DOID:9006757 name: Pachydermodactyly, Familial alt_id: MIM:600356 xref: MESH:C563947 is_a: DOID:0050871 ! fibroma [Term] id: DOID:9006758 name: Osteomas of Mandible alt_id: MIM:166400 xref: MESH:C563485 is_a: DOID:9004412 ! Osteoma is_a: DOID:9005446 ! Mandibular Neoplasms [Term] id: DOID:9006759 name: Non Opposable Triphalangeal Thumb alt_id: MIM:190600 synonym: "nonopposable triphalangeal thumb" EXACT [] xref: MESH:C536562 is_a: DOID:9001425 ! Triphalangeal Thumb [Term] id: DOID:9006760 name: Testicular Anomalies with or without Congenital Heart Disease synonym: "TACHD" EXACT [] xref: MIM:615542 xref: RDO:9000988 is_a: DOID:11383 ! cryptorchidism is_a: DOID:1682 ! congenital heart disease is_a: DOID:9003766 ! 46, XY Disorders of Sex Development [Term] id: DOID:9006761 name: Prostate Cancer, Hereditary, 5 alt_id: MIM:609299 synonym: "HPC5" EXACT [] xref: MESH:C563744 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9006762 name: Down Syndrome Critical Region xref: MESH:C566023 xref: RDO:0014504 is_a: DOID:14250 ! Down syndrome [Term] id: DOID:9006763 name: Stickler Syndrome, Type I, Nonsyndromic Ocular alt_id: MIM:609508 alt_id: RDO:0012898 synonym: "atypical Stickler Syndrome" EXACT [] synonym: "DRRD" NARROW [] synonym: "rhegmatogenous retinal detachment, autosomal dominant" NARROW [] synonym: "Stickler Syndrome type I, predominantly ocular" EXACT [] xref: MESH:C563709 is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9006764 name: Accelerated Idioventricular Rhythm def: "A type of automatic, not reentrant, ectopic ventricular rhythm with episodes lasting from a few seconds to a minute which usually occurs in patients with acute myocardial infarction or with DIGITALIS toxicity. The ventricular rate is faster than normal but slower than tachycardia, with an upper limit of 100 -120 beats per minute. Suppressive therapy is rarely necessary." [MESH:D016170] synonym: "Accelerated Idioventricular Rhythms" EXACT [] synonym: "AIVR" EXACT [] synonym: "Slow Ventricular Tachycardia" EXACT [] synonym: "Slow Ventricular Tachycardias" EXACT [] xref: MESH:D016170 xref: RDO:0006942 is_a: DOID:9005141 ! Ventricular Tachycardia [Term] id: DOID:9006766 name: Palant Cleft Palate Syndrome alt_id: MIM:260150 synonym: "Unusual facies, cleft palate, mental retardation, and limb abnormalities" EXACT [] xref: MESH:C538102 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9001487 ! Facies is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006767 name: Complete Agenesis of Diaphragm xref: MESH:C564189 is_a: DOID:9009073 ! Diaphragmatic Hernia [Term] id: DOID:9006768 name: Beaulieu-Boycott-Innes Syndrome synonym: "BBIS" EXACT [] synonym: "microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations" EXACT [] synonym: "THOC6-RELATED CONDITION" EXACT [] synonym: "THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome" EXACT [] xref: MIM:613680 xref: MONDO:0013362 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9006769 name: Presentey Anomaly alt_id: MIM:261500 synonym: "eosinophil peroxidase deficiency" EXACT [] synonym: "EPXD" EXACT [] synonym: "partial eosinophil peroxidase deficiency" EXACT [] synonym: "Peroxidase and Phospholipid Deficiency in Eosinophils" EXACT [] xref: MESH:C564893 is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9006770 name: Atrial Tachyarrhythmia with Short PR Interval xref: MESH:C566237 is_a: DOID:9002554 ! Tachycardia [Term] id: DOID:9006771 name: Chronic Rhinosinusitis def: "Chronic inflammation of the NASAL MUCOSA in the NASAL CAVITIES and in one or more of the PARANASAL SINUSES, having a slow progressive course of indefinite duration." [] synonym: "chronic rhinosinusitis without nasal polyps" NARROW [] xref: EFO:1000024 xref: EFO:1002030 is_a: DOID:9005941 ! Rhinosinusitis [Term] id: DOID:9006772 name: Ciliophora Infections def: "Infections with protozoa of the phylum CILIOPHORA." [MESH:D016770] synonym: "Ciliophora Infection" EXACT [] xref: MESH:D016770 xref: RDO:0004973 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:9006775 name: Polymicrogyria with Optic Nerve Hypoplasia synonym: "CDCBM8" RELATED [] synonym: "complex cortical dysplasia with other brain malformations 8" RELATED [] xref: MESH:C567715 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations [Term] id: DOID:9006777 name: Neonatal Intractable Myoclonus def: "A severe neurologic disorder characterized by the onset of intractable myoclonic seizures soon after birth. Affected infants have intermittent apnea, abnormal eye movements, pallor of the optic nerve, and lack of developmental progress. Brain imaging shows a progressive leukoencephalopathy. (OMIM)" [] synonym: "KIF5A-RELATED INTRACTABLE NEONATAL MYOCLONUS" EXACT [] synonym: "NEIMY" EXACT [] xref: MIM:617235 is_a: DOID:9007722 ! Myoclonus [Term] id: DOID:9006778 name: Carotid Atherosclerosis def: "A thickening and loss of elasticity of the walls of carotid arteries that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA." [] synonym: "Atherosclerotic Disease of the Carotid Artery" EXACT [] synonym: "carotid atheroscleroses" EXACT [] xref: EFO:0009783 xref: RDO:9000061 is_a: DOID:13001 ! carotid stenosis is_a: DOID:1936 ! atherosclerosis [Term] id: DOID:9006779 name: Discoid Lupus Erythematosus def: "A chronic form of CUTANEOUS LUPUS ERYTHEMATOSUS in which the skin lesions mimic those of the systemic form but in which systemic signs are rare. It is characterized by the presence of discoid skin plaques showing varying degrees of edema, erythema, scaliness, follicular plugging, and skin atrophy. Lesions are surrounded by an elevated erythematous border. The condition typically involves the face and scalp, but widespread dissemination may occur." [MESH:D008179] synonym: "Lupus Erythematosus, Chronic Cutaneous" EXACT [] xref: MESH:D008179 is_a: DOID:0050169 ! cutaneous lupus erythematosus [Term] id: DOID:9006780 name: Genito Palato Cardiac Syndrome alt_id: MIM:231060 synonym: "Gardner-Silengo-Wachtel syndrome" EXACT [] synonym: "Genitopalatocardiac syndrome" EXACT [] synonym: "Male pseudohermaphroditism with micrognathia, cleft palate and conotruncal cardiac defect" EXACT [] xref: MESH:C537683 is_a: DOID:14448 ! 46,XY sex reversal is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:9006781 name: Cutaneous Fistula def: "An abnormal passage or communication leading from an internal organ to the surface of the body." [MESH:D017577] synonym: "Cutaneous Fistulas" EXACT [] synonym: "External Fistula" EXACT [] synonym: "External Fistulas" EXACT [] synonym: "Skin Fistula" EXACT [] synonym: "Skin Fistulas" EXACT [] xref: MESH:D017577 xref: RDO:0007059 is_a: DOID:37 ! skin disease is_a: DOID:9007343 ! Fistula [Term] id: DOID:9006782 name: Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 1 synonym: "OIEDS1" EXACT [] synonym: "OIEDS syndrome 1" EXACT [] xref: MIM:619115 is_a: DOID:9008741 ! Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome created_by: mtutaj creation_date: 2020-12-11T14:52:42Z [Term] id: DOID:9006783 name: Young Syndrome alt_id: MIM:279000 synonym: "Azoospermia, obstructive, and chronic sinopulmonary infections" EXACT [] synonym: "Azoospermia sinopulmonary infections" EXACT [] synonym: "Barry-Perkins-Young syndrome" EXACT [] synonym: "MALE INFERTILITY DUE TO OBSTRUCTIVE AZOOSPERMIA" NARROW [] synonym: "Sinusitis-infertility syndrome" EXACT [] xref: MESH:C536718 is_a: DOID:14228 ! oligospermia is_a: DOID:225 ! syndrome is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:9006784 name: Laryngotracheal Stenosis, Progressive, with Short Stature and Arthropathy xref: MESH:C566379 is_a: DOID:381 ! arthropathy is_a: DOID:9001627 ! Pathologic Constriction is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9006786 name: Ankle Fractures def: "Fractures of any of the bones of the ANKLE." [MESH:D064386] synonym: "Ankle Fracture" EXACT [] synonym: "Bimalleolar Ankle Fracture" EXACT [] synonym: "Bimalleolar Ankle Fractures" EXACT [] synonym: "Bimalleolar Equivalent Ankle Fractures" EXACT [] synonym: "Bimalleolar Equivalent Fracture" EXACT [] synonym: "Bimalleolar Equivalent Fractures" EXACT [] synonym: "Bimalleolar Fracture" EXACT [] synonym: "Bimalleolar Fractures" EXACT [] synonym: "Lateral Malleolus Fracture" EXACT [] synonym: "Lateral Malleolus Fractures" EXACT [] synonym: "Medial Malleolus Fracture" EXACT [] synonym: "Medial Malleolus Fractures" EXACT [] synonym: "Posterior Malleolus Fracture" EXACT [] synonym: "Posterior Malleolus Fractures" EXACT [] synonym: "Trimalleolar Ankle Fracture" EXACT [] synonym: "Trimalleolar Ankle Fractures" EXACT [] synonym: "Trimalleolar Fracture" EXACT [] synonym: "Trimalleolar Fractures" EXACT [] xref: EFO:0009615 xref: MESH:D064386 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9006787 name: Professional Burnout def: "An excessive stress reaction to one's occupational or professional environment. It is manifested by feelings of emotional and physical exhaustion coupled with a sense of frustration and failure." [MESH:D002055] xref: MESH:D002055 is_a: DOID:9005463 ! Occupational Diseases [Term] id: DOID:9006788 name: Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis synonym: "CTEPH, DVT-NEGATIVE, SUSCEPTIBILITY TO" EXACT [] synonym: "Pulmonary Hypertension, Chronic Thromboembolic, without Deep Vein Thrombosis, Susceptibility To" EXACT [] xref: MIM:612862 is_a: DOID:6432 ! pulmonary hypertension is_a: DOID:9477 ! pulmonary embolism [Term] id: DOID:9006789 name: External Ophthalmoplegia, Synergistic Divergence, Jaw Winking, and Oculocutaneous Hypopigmentation xref: MESH:C566509 xref: RDO:0014843 is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9005219 ! Abnormal Reflexes is_a: DOID:9005660 ! Hypopigmentation [Term] id: DOID:9006790 name: Idiopathic Subglottic Tracheal Stenosis xref: MESH:C536283 xref: RDO:0001801 is_a: DOID:3227 ! tracheal stenosis [Term] id: DOID:9006791 name: Hypogonadotropic Hypogonadism 27 without Anosmia def: "A hypogonadotropic hypogonadism characterized by lack of pubertal development associated with onset of obesity in early adolescence. Caused by homozygous mutation in the NHLH2 gene on chromosome 1p31." [MIM:619755] synonym: "HH27" EXACT [] xref: MIM:619755 is_a: DOID:0090070 ! hypogonadotropic hypogonadism created_by: mtutaj creation_date: 2022-02-21T13:13:55Z [Term] id: DOID:9006792 name: Hypertensive Intracranial Hemorrhage def: "Bleeding within the SKULL that is caused by systemic HYPERTENSION, usually in association with INTRACRANIAL ARTERIOSCLEROSIS. Hypertensive hemorrhages are most frequent in the BASAL GANGLIA; CEREBELLUM; PONS; and THALAMUS; but may also involve the CEREBRAL CORTEX, subcortical white matter, and other brain structures." [MESH:D020299] synonym: "Cerebral Hypertensive Hemorrhage" EXACT [] synonym: "Cerebral Hypertensive Hemorrhages" EXACT [] synonym: "Hypertensive Intracerebral Hemorrhage" EXACT [] synonym: "Hypertensive Intracerebral Hemorrhages" EXACT [] synonym: "Hypertensive Intracranial Hemorrhages" EXACT [] xref: MESH:D020299 is_a: DOID:9003104 ! Intracranial Hemorrhages [Term] id: DOID:9006793 name: MICROCEPHALY, DEVELOPMENTAL DELAY, AND BRITTLE HAIR SYNDROME def: "A multisystem disorder with clinical variability. Affected individuals show cognitive and motor disabilities, as well as some degree of fine, brittle hair with microscopic shaft abnormalities. Other shared features include failure to thrive in early childhood and short stature." [MIM:618891] synonym: "MDBH" EXACT [] xref: MIM:618891 is_a: DOID:10907 ! microcephaly is_a: DOID:421 ! hair disease is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2020-08-03T14:24:54Z [Term] id: DOID:9006794 name: Prostate Cancer, Hereditary, 15 alt_id: MIM:611959 synonym: "HPC15" EXACT [] xref: MESH:C567447 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9006795 name: Acid-Base Imbalance def: "Disturbances in the ACID-BASE EQUILIBRIUM of the body." [MESH:D000137] synonym: "Acid-Base Imbalances" EXACT [] xref: MESH:D000137 is_a: DOID:0014667 ! disease of metabolism [Term] id: DOID:9006796 name: Gastrointestinal Neoplasms def: "Tumors or cancer of the GASTROINTESTINAL TRACT, from the MOUTH to the ANAL CANAL." [MESH:D005770] synonym: "Gastrointestinal Cancer" EXACT [] synonym: "Gastrointestinal Cancers" EXACT [] synonym: "Gastrointestinal Neoplasm" EXACT [] xref: MESH:D005770 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9004351 ! Digestive System Neoplasms [Term] id: DOID:9006798 name: Pechet Factor Deficiency alt_id: MIM:169200 synonym: "Dynia Factor Deficiency" EXACT [] xref: MESH:C566814 is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:9006799 name: CHOPS Syndrome def: "This is a multiple congenital anomaly syndrome with delayed psychomotor development with intellectual disability, short stature, obesity, variable dysmorphic facial features (round face, proptosis, hypertelorism, thick eyebrows and hair, long eyelashes, short nose and downturned corners of the mouth), heart defects, increased chance of chronic lung disease, skeletal defects such as brachydactyly, gastroesophageal reflux." [EFO:0009031] synonym: "AFF4-RELATED CONDITION" EXACT [] synonym: "CHOPS" EXACT [] synonym: "cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia" EXACT [] synonym: "Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome" EXACT [] xref: EFO:0009031 xref: MIM:616368 is_a: DOID:0080006 ! bone development disease is_a: DOID:1561 ! cognitive disorder is_a: DOID:1681 ! heart septal defect is_a: DOID:225 ! syndrome is_a: DOID:850 ! lung disease is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9970 ! obesity [Term] id: DOID:9006800 name: Peritoneal Panniculitis def: "INFLAMMATION of the underlying layer of ADIPOSE TISSUE (panniculus) of the PERITONEUM, usually of the MESENTERY or the OMENTUM. There are several forms with various names and are usually characterized by infiltration of LYMPHOCYTES and NEUTROPHILS, fat NECROSIS, and FIBROSIS." [MESH:D015436] synonym: "Liposclerotic Mesenteritis" EXACT [] synonym: "Mesenteric Lipodystrophy" EXACT [] synonym: "Mesenteric Panniculitis" EXACT [] synonym: "Mesenteric Weber Christian Disease" EXACT [] synonym: "Omental Panniculitis" EXACT [] synonym: "Retractile Mesenteritis" EXACT [] synonym: "Sclerosing Mesenteritis" EXACT [] xref: EFO:1001384 xref: MESH:D015436 is_a: DOID:1526 ! panniculitis is_a: DOID:9006175 ! Peritoneal Diseases [Term] id: DOID:9006801 name: Elejalde Disease alt_id: MIM:256710 synonym: "Elejalde neuroectodermal melanolysosomal syndrome" EXACT [] synonym: "Elejalde syndrome" EXACT [] synonym: "Melanolysosomal neurocutaneous syndrome" EXACT [] synonym: "Neuroectodermal melanolysosomal disease" EXACT [] synonym: "Neuro-ectodermal melanolysosomal syndrome" EXACT [] xref: MESH:C536203 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001734 ! Neurocutaneous Syndromes [Term] id: DOID:9006802 name: Attenuated Familial Adenomatous Polyposis alt_id: RDO:0004223 synonym: "AFAP" EXACT [] synonym: "FAMILIAL ADENOMATOUS POLYPOSIS, ATTENUATED" EXACT [] xref: MESH:C538265 is_a: DOID:0050424 ! familial adenomatous polyposis [Term] id: DOID:9006804 name: CD8 Deficiency, Familial alt_id: MIM:608957 xref: MESH:C563824 xref: RDO:0012985 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9006805 name: Iris Neoplasms alt_id: DOID:6994 def: "Tumors of the iris characterized by increased pigmentation of melanocytes. Iris nevi are composed of proliferated melanocytes and are associated with neurofibromatosis and malignant melanoma of the choroid and ciliary body. Malignant melanoma of the iris often originates from preexisting nevi." [] synonym: "Iris Neoplasm" EXACT [] synonym: "Iris Neoplasms" EXACT [] xref: MESH:D015811 is_a: DOID:240 ! iris disease is_a: DOID:9007031 ! Uveal Neoplasms [Term] id: DOID:9006806 name: Pseudo-TORCH Syndrome 3 synonym: "PTORCH3" EXACT [] xref: MIM:618886 is_a: DOID:2914 ! immune system disease is_a: DOID:9002061 ! Pseudo-TORCH Syndrome created_by: mtutaj creation_date: 2020-05-27T10:51:19Z [Term] id: DOID:9006807 name: Congenital Pulmonary Alveolar Proteinosis xref: MESH:C535832 is_a: DOID:12120 ! pulmonary alveolar proteinosis [Term] id: DOID:9006809 name: Specific Granule Deficiency 2 synonym: "SGD2" EXACT [] synonym: "SMARCD2-RELATED CONDITION" EXACT [] xref: MIM:617475 is_a: DOID:9000265 ! Specific Granule Deficiency created_by: mtutaj creation_date: 2019-03-26T08:31:01Z [Term] id: DOID:9006810 name: Drug-Related Side Effects and Adverse Reactions def: "Disorders that result from the intended use of PHARMACEUTICAL PREPARATIONS. Included in this heading are a broad variety of chemically-induced adverse conditions due to toxicity, DRUG INTERACTIONS, and metabolic effects of pharmaceuticals." [MESH:D064420] synonym: "adverse drug event" EXACT [] synonym: "adverse drug events" EXACT [] synonym: "Adverse Drug Reaction" EXACT [] synonym: "Adverse Drug Reactions" EXACT [] synonym: "antidepressant-induced dizziness" NARROW [] synonym: "Brain pseudoatrophy, reversible, valproate-induced, susceptibility to" RELATED [] synonym: "Drug Side Effect" EXACT [] synonym: "Drug Side Effects" EXACT [] synonym: "Drug Toxicities" EXACT [] synonym: "drug toxicity" EXACT [] synonym: "side effects of drugs" EXACT [] xref: EFO:0006321 xref: EFO:0020003 xref: MESH:D064420 is_a: DOID:9008261 ! Chemically-Induced Disorders [Term] id: DOID:9006811 name: Congenital Alacrima alt_id: MIM:103420 alt_id: MIM:601549 synonym: "Alacrimia Congenita" EXACT [] synonym: "alacrimia congenita, autosomal dominant" NARROW [] synonym: "congenital alacrima, autosomal dominant" NARROW [] synonym: "congenital alacrima, autosomal recessive" NARROW [] xref: MESH:C566307 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9006812 name: Transient Neonatal Cyanosis alt_id: RDO:9000262 synonym: "TNCY" EXACT [] xref: MIM:613977 is_a: DOID:9000781 ! Cyanosis [Term] id: DOID:9006813 name: Hunt's Syndrome synonym: "Myoclonus and Ataxia" EXACT [] synonym: "Ramsay Hunt Syndrome type 2" EXACT [] xref: MESH:C535287 is_a: DOID:12707 ! myoclonic cerebellar dyssynergia is_a: DOID:225 ! syndrome [Term] id: DOID:9006814 name: Gingival Neoplasms def: "New abnormal growth of tissue in the GINGIVA." [] synonym: "Gingival Neoplasm" EXACT [] xref: MESH:D005887 is_a: DOID:1483 ! gingival disease is_a: DOID:9007364 ! Mouth Neoplasms [Term] id: DOID:9006815 name: Otorhinolaryngologic Neoplasms def: "A general concept for tumors or cancer of any part of the EAR; the NOSE; the THROAT; and the PHARYNX. It is used when there is no specific heading." [MESH:D010039] synonym: "Ootorhinolaryngeal Neoplasm" EXACT [] synonym: "Ootorhinolaryngeal Neoplasms" EXACT [] synonym: "Otorhinolaryngeal Cancer" EXACT [] synonym: "Otorhinolaryngeal Cancers" EXACT [] synonym: "Otorhinolaryngological Neoplasm" EXACT [] synonym: "Otorhinolaryngological Neoplasms" EXACT [] synonym: "Otorhinolaryngologic Neoplasm" EXACT [] xref: MESH:D010039 xref: RDO:0005424 is_a: DOID:9006169 ! Head and Neck Neoplasms is_a: DOID:9007241 ! Otorhinolaryngologic Diseases [Term] id: DOID:9006816 name: Functional Hearing Loss alt_id: RDO:0005720 def: "Hearing loss without a physical basis. Often observed in patients with psychological or behavioral disorders." [MESH:D006315] synonym: "Nonorganic Hearing Loss" EXACT [] synonym: "Psychogenic Hearing Loss" EXACT [] xref: MESH:D006315 is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9006817 name: Hamamy Syndrome alt_id: MIM:611174 synonym: "HMMS" EXACT [] synonym: "severe hypertelorism with midface prominence, myopia, intellectual disability, and bone fragility" EXACT [] synonym: "severe hypertelorism with midface prominence, myopia, mental retardation, and bone fragility" EXACT [] xref: MESH:C566988 xref: MONDO:0012634 xref: ORDO:314555 is_a: DOID:0080001 ! bone disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11830 ! myopia is_a: DOID:225 ! syndrome is_a: DOID:9003133 ! Hypertelorism [Term] id: DOID:9006818 name: Oocyte/Zygote/Embryo Maturation Arrest 15 synonym: "OZEMA15" EXACT [] synonym: "Preimplantation Embryonic Lethality 1" EXACT [] synonym: "PREMBL1" EXACT [] xref: MIM:616814 is_a: DOID:9004994 ! Embryo Loss is_a: DOID:9007456 ! Female Infertility [Term] id: DOID:9006819 name: Anonychia with Flexural Pigmentation alt_id: MIM:106750 xref: MESH:C566278 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9006820 name: Parkinson's Disease, X-Linked Dominant synonym: "Parkinson Disease, X-Linked Dominant" EXACT [] synonym: "X-linked dominant Parkinson's disease" EXACT [] synonym: "X-linked dominant Parkinson disease" EXACT [] xref: RDO:9000400 is_a: DOID:14330 ! Parkinson's disease created_by: rgd creation_date: 2016-01-15T00:00:00Z [Term] id: DOID:9006821 name: Skraban-Deardorff Syndrome def: "A syndromic neurodevelopmental disorder characterized by delayed psychomotor development with variable intellectual disability, early-onset seizures, and characteristic dysmorphic facial features comprising coarse facies with a prominent maxilla and upper lip revealing the upper gingiva, widely-spaced teeth, and a broad nasal tip. (OMIM)" [] synonym: "INTELLECTUAL DISABILITY WITH SEIZURES, ABNORMAL GAIT, AND DISTINCTIVE FACIAL FEATURES" EXACT [] synonym: "SKDEAS" EXACT [] synonym: "WDR26-RELATED CONDITION" EXACT [] xref: MIM:617616 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:9006822 name: Blue Nevi, Familial Multiple alt_id: MIM:603670 xref: MESH:C566346 is_a: DOID:9001740 ! Blue Nevus [Term] id: DOID:9006823 name: Echovirus Infections alt_id: RDO:0005435 def: "Infectious disease processes, including meningitis, diarrhea, and respiratory disorders, caused by echoviruses." [MESH:D004457] synonym: "Echo Virus Infection" EXACT [] synonym: "Echovirus Infection" EXACT [] synonym: "Echo Virus Infections" EXACT [] synonym: "echovirus infectious disease" EXACT [] xref: EFO:0007247 xref: MESH:D004457 is_a: DOID:9006549 ! Enterovirus Infections [Term] id: DOID:9006824 name: 46,XY Partial Gonadal Dysgenesis, with Minifascicular Neuropathy alt_id: MIM:607080 synonym: "GDMN" EXACT [] xref: MESH:C567773 is_a: DOID:1389 ! polyneuropathy is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:9006825 name: Imerslund-Grasbeck Syndrome synonym: "IGS" EXACT [] xref: MIM:PS261100 is_a: DOID:0050731 ! vitamin B12 deficiency is_a: DOID:13382 ! megaloblastic anemia is_a: DOID:576 ! proteinuria is_a: DOID:9002984 ! Malabsorption Syndromes created_by: mtutaj creation_date: 2020-07-28T11:40:36Z [Term] id: DOID:9006826 name: Pascual Castroviejo Syndrome synonym: "Hemangiomas, and cutaneous and intracranial vascular deformations" EXACT [] xref: MESH:C536302 xref: RDO:0001829 is_a: DOID:225 ! syndrome is_a: DOID:255 ! hemangioma is_a: DOID:9007502 ! Brain Neoplasms is_a: DOID:916 ! liver benign neoplasm [Term] id: DOID:9006827 name: Lung Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the lung, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "Lung Ischemia-Reperfusion Injury" EXACT [] is_a: DOID:9000310 ! Lung Injury is_a: DOID:9004009 ! Reperfusion Injury [Term] id: DOID:9006828 name: Congenital Hyperinsulinism def: "A familial, nontransient HYPOGLYCEMIA with defects in negative feedback of GLUCOSE-regulated INSULIN release. Clinical phenotypes include HYPOGLYCEMIA; HYPERINSULINEMIA; SEIZURES; COMA; and often large BIRTH WEIGHT. Several sub-types exist with the most common, type 1, associated with mutations on an ATP-BINDING CASSETTE TRANSPORTERS (subfamily C, member 8)." [MESH:D044903] synonym: "Familial Hyperinsulinism" EXACT [] synonym: "familial hyperinsulinisms" EXACT [] synonym: "KCNT2-RELATED CONDITION" NARROW [] synonym: "Neonatal Hyperinsulinism" EXACT [] synonym: "Neonatal Hyperinsulinisms" EXACT [] xref: MESH:D044903 xref: NCI:C131425 is_a: DOID:2018 ! hyperinsulinism is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:9006829 name: Multiple Fibroadenomas of the Breast alt_id: RDO:9000997 synonym: "MFAB" EXACT [] xref: MIM:615554 is_a: DOID:1618 ! breast fibroadenoma [Term] id: DOID:9006830 name: Chromosome 14q, Terminal Deletion synonym: "Deletion 14qter" EXACT [] synonym: "Monosomy 14qter" EXACT [] xref: MESH:C538033 xref: RDO:0003967 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006831 name: Tachycardia, Hypertension, Microphthalmia, And Hyperglycinuria xref: MESH:C566880 is_a: DOID:10629 ! microphthalmia is_a: DOID:10763 ! hypertension is_a: DOID:9002554 ! Tachycardia [Term] id: DOID:9006832 name: Puromycin Aminonucleoside Nephrosis def: "An experimental model of human minimal change disease (MCD) and focal segmental glomerulosclerosis (FSGS) generated by the dosing of rats with puromycin aminonucleoside. The resulting disease features proteinuria and podocyte ultrastructural changes." [] synonym: "PAN" EXACT [] synonym: "PAN nephrosis" EXACT [] is_a: DOID:2527 ! nephrosis is_a: DOID:9008688 ! Podocyte Diseases [Term] id: DOID:9006833 name: Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis alt_id: MIM:204730 alt_id: RDO:0014460 xref: MESH:C565960 is_a: DOID:1059 ! intellectual disability is_a: DOID:11476 ! osteoporosis is_a: DOID:9007661 ! Dwarfism is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9006834 name: Glycosylphosphatidylinositol Deficiency alt_id: MESH:C537277 synonym: "GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT" EXACT [] synonym: "GPID" EXACT [] synonym: "PORTAL HYPERTENSION WITH SEIZURES AND/OR MACROCEPHALY GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY" EXACT [] is_a: DOID:1826 ! epilepsy is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9006835 name: Cystic Mesothelioma def: "A peritoneal mesothelioma affecting mainly young females and producing cysts of variable size and number lined by a single layer of benign mesothelial cells. The disease follows a benign course and is compatible with a normal life expectancy, requiring occasionally partial excision or decompression for relief of pain or other symptoms. Malignant potential is exceptional. (From Holland et al., Cancer Medicine, 3d ed, p1345)" [MESH:D018261] synonym: "Cystic Mesotheliomas" EXACT [] xref: MESH:D018261 is_a: DOID:9003566 ! Mesothelioma [Term] id: DOID:9006836 name: Contracture def: "Prolonged shortening of the muscle or other soft tissue around a joint, preventing movement of the joint." [MESH:D003286] synonym: "Contractures" EXACT [] xref: EFO:0003899 xref: MESH:D003286 is_a: DOID:0080000 ! muscular disease is_a: DOID:381 ! arthropathy [Term] id: DOID:9006837 name: Myeloid Tumor Suppressor synonym: "MLRL" EXACT [] synonym: "MYELOID LEUKEMIA-LOCUS" RELATED [] xref: MIM:601308 is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:9006838 name: Congenital Facial Diplegia alt_id: RDO:0000164 xref: MESH:C531747 is_a: DOID:13501 ! Moebius syndrome [Term] id: DOID:9006839 name: Anastomotic Leak def: "Breakdown of the connection and subsequent leakage of effluent (fluids, secretions, air) from a SURGICAL ANASTOMOSIS of the digestive, respiratory, genitourinary, and cardiovascular systems. Most common leakages are from the breakdown of suture lines in gastrointestinal or bowel anastomosis." [MESH:D057868] synonym: "Anastomotic Leakage" EXACT [] synonym: "Anastomotic Leakages" EXACT [] synonym: "Anastomotic Leaks" EXACT [] xref: MESH:D057868 is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9006840 name: Hypergastrinemia def: "The presence of an excess of gastrin in the blood, commonly the result of gastrin-secreting tumors (gastrinomas)." [] is_a: DOID:620 ! blood protein disease created_by: rgd creation_date: 2015-07-08T00:00:00Z [Term] id: DOID:9006841 name: Growth and Developmental Retardation, Ocular Ptosis, Cardiac Defect, and Anal Atresia alt_id: MIM:604690 synonym: "ROCA Syndrome" EXACT [] synonym: "ROCA-Weidemann Syndrome" EXACT [] xref: MESH:C565755 xref: RDO:0014309 is_a: DOID:0060260 ! ptosis is_a: DOID:10488 ! imperforate anus is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9006842 name: Granulomatous Uveitis def: "A persistent eye inflammation with a grainy surface characterized by blurred vision, mild pain, eye tearing, and mild sensitivity to light." [] synonym: "chronic granulomatous uveitis" EXACT [] xref: RDO:9000052 is_a: DOID:13141 ! uveitis [Term] id: DOID:9006843 name: Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 4 def: "A disease characterized by onset of proximal muscle weakness in young adulthood." [MIM:618129] synonym: "autosomal dominant limb-girdle muscular dystrophy 4" EXACT [] synonym: "CAPN3-RELATED DISORDER" BROAD [] synonym: "LGMD1I" EXACT [] synonym: "LGMDD4" EXACT [] synonym: "limb-girdle muscular dystrophy type 1I" EXACT [] xref: MIM:618129 is_a: DOID:0110273 ! autosomal dominant limb-girdle muscular dystrophy created_by: slaulede creation_date: 2019-09-10T14:00:22Z [Term] id: DOID:9006844 name: Streptococcal Infections def: "Infections with bacteria of the genus STREPTOCOCCUS." [MESH:D013290] synonym: "Streptococcal Infection" EXACT [] xref: MESH:D013290 is_a: DOID:9002823 ! Gram-Positive Bacterial Infections [Term] id: DOID:9006845 name: Striatal Degeneration, Autosomal Dominant xref: MESH:C563783 xref: MIM:PS609161 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9002955 ! Nerve Degeneration created_by: mtutaj creation_date: 2019-03-15T00:00:00Z [Term] id: DOID:9006846 name: Dysuria def: "Painful URINATION. It is often associated with infections of the lower URINARY TRACT." [MESH:D053159] xref: EFO:0003901 xref: MESH:D053159 is_a: DOID:9003962 ! Lower Urinary Tract Symptoms [Term] id: DOID:9006847 name: fibula fractures def: "These are traumatic or pathologic injuries to the fibula in which the continuity of the bone is broken." [EFO:0009613] synonym: "fibula fracture" EXACT [] xref: EFO:0009613 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9008911 ! Leg Injuries created_by: slaulede creation_date: 2023-01-24T14:37:12Z [Term] id: DOID:9006848 name: Chromosome 10 Ring xref: MESH:C538086 xref: RDO:0004020 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9006849 name: Phosphaturia def: "An excess of phosphates in the urine." [] is_a: DOID:2485 ! phosphorus metabolism disease is_a: DOID:9003919 ! Urination Disorders [Term] id: DOID:9006850 name: Chromosome Xp11.3 Deletion Syndrome alt_id: MIM:300578 synonym: "Mental Retardation, X-Linked, With Retinitis Pigmentosa" EXACT [] xref: MESH:C564481 xref: RDO:0013427 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:225 ! syndrome is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9006851 name: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES def: "This disease is an autosomal recessive disorder characterized by delayed developmental milestones apparent in late infancy or early childhood, impaired intellectual development with learning difficulties, and behavioral abnormalities. Motor abnormalities, including parkinsonism and spasticity, usually develop in the third or fourth decades." [MIM:620747] synonym: "NEDPBA" EXACT [] xref: MIM:620747 is_a: DOID:13548 ! secondary Parkinson disease is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2024-05-24T13:01:52Z [Term] id: DOID:9006852 name: Waldmann Disease synonym: "Familial Waldmann's disease" EXACT [] synonym: "Primary intestinal lymphangiectasis" EXACT [] synonym: "Waldmann's disease" EXACT [] xref: MESH:C536567 xref: RDO:0002186 is_a: DOID:4977 ! lymphedema is_a: DOID:9005821 ! Intestinal Lymphangiectasis [Term] id: DOID:9006853 name: Skin/Hair/Eye Pigmentation, Variation In, 8 alt_id: MIM:611724 synonym: "IRF4-RELATED CONDITION" EXACT [] synonym: "Shep8" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 8, Freckling" EXACT [] xref: MESH:C567096 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9006854 name: MPTP Poisoning def: "A condition caused by the neurotoxin MPTP which causes selective destruction of nigrostriatal dopaminergic neurons. Clinical features include irreversible parkinsonian signs including rigidity and bradykinesia (PARKINSON DISEASE, SECONDARY). MPTP toxicity is also used as an animal model for the study of PARKINSON DISEASE. (Adams et al., Principles of Neurology, 6th ed, p1072; Neurology 1986 Feb;36(2):250-8)" [MESH:D020267] synonym: "MPTP Induced Degeneration of the Striatum" EXACT [] synonym: "MPTP Induced Parkinsonism" EXACT [] synonym: "MPTP Neurotoxicity Syndrome" EXACT [] synonym: "MPTP Neurotoxicity Syndromes" EXACT [] synonym: "Poisoning, 1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine" EXACT [] xref: MESH:D020267 is_a: DOID:13548 ! secondary Parkinson disease is_a: DOID:3602 ! toxic encephalopathy [Term] id: DOID:9006855 name: Dog Diseases def: "Diseases of the domestic dog (Canis familiaris). This term does not include diseases of wild dogs, WOLVES; FOXES; and other Canidae for which the heading CARNIVORA is used." [MESH:D004283] synonym: "Canine Disease" EXACT [] synonym: "Canine Diseases" EXACT [] synonym: "Dog Disease" EXACT [] xref: MESH:D004283 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9006856 name: Glutamate Monosodium Sensitivity alt_id: MIM:231630 synonym: "Chinese restaurant syndrome" EXACT [] xref: MESH:C562377 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9006857 name: Bartsocas-Papas Syndrome 2 def: "A severe form of popliteal pterygium disorder characterized by cutaneous webbing across one or more joints, cleft lip and/or palate, syndactyly, and genital malformations. Caused by homozygous mutation in the CHUK gene on chromosome 10q24. (OMIM)" [] synonym: "BPS2" EXACT [] synonym: "popliteal pterygium syndrome, Bartsocas-Papas type 2" EXACT [] xref: MIM:619339 is_a: DOID:0060055 ! popliteal pterygium syndrome created_by: mtutaj creation_date: 2021-05-27T11:20:55Z [Term] id: DOID:9006858 name: Endocardial Cushion Defects def: "A spectrum of septal defects involving the ATRIAL SEPTUM; VENTRICULAR SEPTUM; and the atrioventricular valves (TRICUSPID VALVE; BICUSPID VALVE). These defects are due to incomplete growth and fusion of the ENDOCARDIAL CUSHIONS which are important in the formation of two atrioventricular canals, site of future atrioventricular valves." [MESH:D004694] synonym: "Endocardial Cushion Defect" EXACT [] synonym: "Persistent Common Atrioventricular Canal" EXACT [] xref: MESH:D004694 xref: RDO:0005482 is_a: DOID:1681 ! heart septal defect [Term] id: DOID:9006859 name: BCG Infection, Generalized Familial xref: MESH:C565907 xref: RDO:0014421 is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections [Term] id: DOID:9006860 name: Lipedema alt_id: MIM:614103 def: "Disorder of adipose tissue characterized by symmetric and bilateral enlargement of the lower extremities due to abnormal deposition of SUBCUTANEOUS FAT often in obese women. It is associated with HEMATOMA, pain and may progress to secondary LYMPHEDEMA which is known as lipolymphedema." [MESH:D065134] synonym: "Lipedemas" EXACT [] synonym: "Lipoedema" EXACT [] synonym: "Lipoedemas" EXACT [] synonym: "Lipolymphedema" EXACT [] synonym: "Lipolymphedemas" EXACT [] xref: MESH:D065134 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:9006861 name: Porphyria, Chester Type xref: MESH:C536341 is_a: DOID:3890 ! acute intermittent porphyria [Term] id: DOID:9006862 name: PERITONEAL GLIOMATOSIS def: "A rare condition often associated with immature ovarian teratoma, is characterized by the presence of mature glial tissue in the peritoneum." [PMID:26564007] synonym: "gliomatosis peritonei" EXACT [] synonym: "GP" EXACT [] synonym: "PG" EXACT [] is_a: DOID:7305 ! astroblastoma created_by: slaulede creation_date: 2020-08-13T12:18:33Z [Term] id: DOID:9006863 name: Reactive Angioendotheliomatosis xref: MESH:C535293 is_a: DOID:9000293 ! Hemangioendothelioma is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9006864 name: Trigeminal Nerve Injuries def: "Traumatic injuries to the TRIGEMINAL NERVE. It may result in extreme pain, abnormal sensation in the areas the nerve innervates on face, jaw, gums and tongue and can cause difficulties with speech and chewing. It is sometimes associated with various dental treatments." [MESH:D061221] synonym: "Cranial Nerve V Injury" EXACT [] synonym: "Fifth Cranial Nerve Injuries" EXACT [] synonym: "Fifth Cranial Nerve Injury" EXACT [] synonym: "Fifth Nerve Trauma" EXACT [] synonym: "Fifth-Nerve Traumas" EXACT [] synonym: "Traumatic Fifth-Nerve Palsies" EXACT [] synonym: "Traumatic Fifth Nerve Palsy" EXACT [] synonym: "Traumatic Trigeminal Neuropathies" EXACT [] synonym: "Traumatic Trigeminal Neuropathy" EXACT [] synonym: "Trigeminal Nerve Avulsion" EXACT [] synonym: "Trigeminal Nerve Avulsions" EXACT [] synonym: "Trigeminal Nerve Contusion" EXACT [] synonym: "Trigeminal Nerve Contusions" EXACT [] synonym: "Trigeminal Nerve Injury" EXACT [] synonym: "Trigeminal Nerve Transection" EXACT [] synonym: "Trigeminal Nerve Transections" EXACT [] synonym: "Trigeminal Nerve Trauma" EXACT [] synonym: "Trigeminal Nerve Traumas" EXACT [] xref: MESH:D061221 xref: RDO:0010058 is_a: DOID:561 ! trigeminal nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9006865 name: Fever of Unknown Origin def: "Fever in which the etiology cannot be ascertained." [MESH:D005335] synonym: "Unknown Origin Fever" EXACT [] synonym: "Unknown Origin Fevers" EXACT [] xref: EFO:0003952 xref: MESH:D005335 xref: RDO:0005599 is_a: DOID:9000972 ! Fever [Term] id: DOID:9006866 name: THROMBOCYTOPENIA 13 def: "This disease is an autosomal recessive disorder characterized mainly by congenital thrombocytopenia resulting in increased bleeding. Platelets tend to be enlarged (macrothrombocytopenia) and/or gray and show functional defects." [MIM:620776] synonym: "syndromic thrombocytopenia-13" EXACT [] synonym: "THC13" EXACT [] synonym: "THROMBOCYTOPENIA 13, SYNDROMIC" EXACT [] synonym: "THROMBOCYTOPENIA, AUTOSOMAL RECESSIVE, 13" EXACT [] xref: MIM:620776 is_a: DOID:1588 ! thrombocytopenia created_by: slaulederkind creation_date: 2024-06-04T10:10:46Z [Term] id: DOID:9006867 name: Accessory Navicular Bone alt_id: MIM:161600 xref: MESH:C536002 is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:9006869 name: Brown-Pearce Carcinoma def: "A transplantable EPITHELIAL CELL neoplasm of rabbits." [MESH:D002284] synonym: "Brown-Pearce Epithelioma" EXACT [] xref: EFO:1001278 xref: MESH:D002284 is_a: DOID:9002170 ! Experimental Neoplasms [Term] id: DOID:9006870 name: Morgellons Disease def: "An unexplained illness which is characterized by skin manifestations including non-healing lesions, itching, and the appearance of fibers." [MESH:D055535] synonym: "Morgellon" EXACT [] synonym: "Morgellon's" EXACT [] synonym: "Morgellons" EXACT [] synonym: "Morgellons Syndrome" EXACT [] xref: MESH:D055535 is_a: DOID:37 ! skin disease is_a: DOID:9000439 ! Schizophrenia Spectrum and Other Psychotic Disorders [Term] id: DOID:9006871 name: BRANCHIAL ARCH ABNORMALITIES, CHOANAL ATRESIA, ATHELIA, HEARING LOSS, AND HYPOTHYROIDISM SYNDROME def: "This disease is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities." [MIM:620186] synonym: "BCAHH" EXACT [] synonym: "CHOANAL ATRESIA-ATHELIA-HYPOTHYROIDISM-DELAYED PUBERTY-SHORT STATURE SYNDROME" EXACT [] synonym: "KMT2D-RELATED CONDITION" BROAD [] synonym: "KMT2D-RELATED DISORDERS" BROAD [] xref: MIM:620186 is_a: DOID:1459 ! hypothyroidism is_a: DOID:14702 ! branchiootorenal syndrome is_a: DOID:9000865 ! Amastia is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9574 ! choanal atresia created_by: slaulede creation_date: 2023-04-13T12:46:40Z [Term] id: DOID:9006872 name: Synostosis of Talus and Calcaneus with Short Stature xref: MESH:C566089 is_a: DOID:0050789 ! tarsal-carpal coalition syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9006873 name: Odd Shapes of Teeth alt_id: MIM:187000 synonym: "lobodontia" EXACT [] synonym: "multiple conical teeth" EXACT [] xref: MESH:C566076 is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9006874 name: Retinal Aplasia alt_id: MIM:179900 synonym: "Amaurosis Congenita" EXACT [] xref: MESH:C566720 is_a: DOID:1432 ! blindness is_a: DOID:5679 ! retinal disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9006875 name: Sutton Disease 2 synonym: "Aphthous Stomatitis, Recurrent" EXACT [] synonym: "Aphthous Ulcer, Recurrent" EXACT [] synonym: "Major Aphthous Ulcer" EXACT [] synonym: "Major Canker Sore" EXACT [] synonym: "Recurrent Scarring Aphthae" EXACT [] xref: MESH:C538145 is_a: DOID:9663 ! aphthous stomatitis [Term] id: DOID:9006876 name: Autoinflammation, Immune Dysregulation, and Eosinophilia synonym: "AIIDE" EXACT [] synonym: "atopic dermatitis, enteritis, colitis, and eosinophilia" EXACT [] synonym: "JAK1-RELATED CONDITION" EXACT [] xref: MIM:618999 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001371 ! Eosinophilia is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: mtutaj creation_date: 2020-09-02T13:31:12Z [Term] id: DOID:9006877 name: Insulin-Like Growth Factor I Deficiency alt_id: MIM:608747 synonym: "Growth Retardation with Sensorineural Deafness and Mental Retardation" EXACT [] synonym: "IGF1 Deficiency" EXACT [] xref: MESH:C563867 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9006878 name: Exercise Intolerance alt_id: OMIA:001466 def: "A symptom primarily found in cardiorespiratory disorders. It is also a common symptom in chronic fatigue syndrome." [] synonym: "Exercise-induced collapse" NARROW [] synonym: "riboflavin-responsive exercise intolerance" NARROW [] synonym: "RREI" NARROW [] xref: MIM:616839 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9006879 name: Primary Hyperparathyroidism, caused by Water Clear Cell Hyperplasia alt_id: MIM:600166 xref: MESH:C563982 is_a: DOID:11202 ! primary hyperparathyroidism [Term] id: DOID:9006880 name: Urinary Incontinence def: "Involuntary loss of URINE, such as leaking of urine. It is a symptom of various underlying pathological processes. Major types of incontinence include URINARY URGE INCONTINENCE and URINARY STRESS INCONTINENCE." [MESH:D014549] xref: MESH:D014549 is_a: DOID:9003919 ! Urination Disorders is_a: DOID:9003962 ! Lower Urinary Tract Symptoms [Term] id: DOID:9006881 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH POOR GROWTH AND WITH OR WITHOUT SEIZURES OR ATAXIA def: "An autosomal recessive neurologic disorder characterized by global developmental delay apparent from infancy, hypotonia, and poor overall growth. The phenotype is highly variable." [MIM:618808] synonym: "ABCA2-RELATED CONDITION" EXACT [] synonym: "IDPOGSA" EXACT [] xref: MIM:618808 is_a: DOID:0050951 ! hereditary ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:9006257 ! Growth Disorders created_by: slaulede creation_date: 2020-07-21T13:23:38Z [Term] id: DOID:9006882 name: Progesterone Resistance alt_id: MIM:264080 synonym: "Pseudocorpus Luteum Insufficiency" EXACT [] xref: MESH:C564871 is_a: DOID:345 ! uterine disease [Term] id: DOID:9006883 name: Sclerosing Lymphocytic Lobulitis synonym: "Sclerosing lymphocytic lobulitis of the breast" EXACT [] xref: MESH:C537524 is_a: DOID:3463 ! breast disease is_a: DOID:9001779 ! Lymphocytosis is_a: DOID:9007896 ! Sclerosis [Term] id: DOID:9006884 name: Axonal Encephalopathy with Necrotizing Myopathy, Cardiomyopathy, and Cataracts alt_id: MIM:225740 xref: MESH:C565596 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:0080000 ! muscular disease is_a: DOID:83 ! cataract is_a: DOID:9005627 ! Metabolic Brain Diseases [Term] id: DOID:9006885 name: large artery stroke def: "This is a stroke caused by the blockage of blood flow in one of the large arteries feeding the brain." [EFO:0005524] synonym: "atherosclerotic stroke" EXACT [] xref: EFO:0005524 is_a: DOID:9007096 ! Stroke created_by: slaulede creation_date: 2023-01-16T12:07:39Z [Term] id: DOID:9006886 name: Atrial Septal Defect with Atrioventricular Conduction Defects synonym: "ASD with Atrioventricular Conduction Defects" EXACT [] xref: MESH:C566238 is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:9003163 ! Heart Block [Term] id: DOID:9006887 name: Bifidobacteriales Infections def: "Infections with BACTERIA of the order Bifidobacteriales. This includes infections in the genera BIFIDOBACTERIUM and GARDNERELLA, in the family Bifidobacteriaceae." [MESH:D039941] synonym: "Bifidobacteriales Infection" EXACT [] xref: EFO:1000873 xref: MESH:D039941 xref: RDO:0007498 is_a: DOID:9002823 ! Gram-Positive Bacterial Infections [Term] id: DOID:9006888 name: Benign Neonatal Epilepsy, 1 synonym: "Convulsions, Benign Familial Neonatal, 1" EXACT [] xref: MESH:C565164 is_a: DOID:14264 ! benign neonatal seizures [Term] id: DOID:9006889 name: Uterine Hemorrhage def: "Bleeding from blood vessels in the UTERUS, sometimes manifested as vaginal bleeding." [MESH:D014592] synonym: "Uterine Bleeding" EXACT [] synonym: "Uterine Bleedings" EXACT [] synonym: "Uterine Hemorrhages" EXACT [] synonym: "Vaginal Bleeding" EXACT [] synonym: "Vaginal Bleedings" EXACT [] xref: MESH:D014592 is_a: DOID:345 ! uterine disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9006890 name: Chronic Uveitis def: "Inflammation of part or all of the uvea, the middle (vascular) tunic of the eye, having a slow progressive course of indefinite duration." [] synonym: "chronic inflammation of uveal tract" EXACT [] xref: RDO:9000100 is_a: DOID:13141 ! uveitis [Term] id: DOID:9006891 name: Schimke X-Linked Mental Retardation Syndrome alt_id: MIM:312840 synonym: "Childhood-onset choreoathetosis with spasticity, postnatal microcephaly, growth and mental retardation, ophthalmoplegia, and deafness" EXACT [] synonym: "Choreoathetosis with X-linked mental retardation" EXACT [] synonym: "Progressive basal ganglion dysfunction, mental and growth retardation, external ophthalmoplegia, postnatal microcephaly and deafness" EXACT [] xref: MESH:C536630 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008681 ! Deafness [Term] id: DOID:9006892 name: Dyschromatosis Universalis Hereditaria 3 alt_id: RDO:9000936 synonym: "DUH3" EXACT [] xref: MIM:615402 is_a: DOID:0060304 ! dyschromatosis universalis hereditaria [Term] id: DOID:9006894 name: Oral Manifestations def: "Disorders of the mouth attendant upon non-oral disease or injury." [MESH:D009912] synonym: "Oral Manifestation" EXACT [] xref: MESH:D009912 is_a: DOID:403 ! mouth disease is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9006895 name: Vasquez Hurst Sotos Syndrome xref: MESH:C536533 xref: RDO:0002144 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1059 ! intellectual disability is_a: DOID:12698 ! gynecomastia is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9970 ! obesity [Term] id: DOID:9006896 name: Usher Syndrome, Type ID/F synonym: "Usher Syndrome, Type 1D/F" EXACT [] synonym: "Usher Syndrome, Type ID/F, Digenic" EXACT [] xref: MESH:C567409 xref: RDO:0015487 is_a: DOID:0110831 ! Usher syndrome type 1D is_a: DOID:0110832 ! Usher syndrome type 1F [Term] id: DOID:9006897 name: Atelosteogenesis Type 2 alt_id: MIM:256050 synonym: "AO2" EXACT [] synonym: "AOII" EXACT [] synonym: "atelosteogenesis De La Chapelle type" EXACT [] synonym: "Atelosteogenesis, Type II" EXACT [] synonym: "De La Chapelle Dysplasia" EXACT [] synonym: "DLCD" NARROW [] synonym: "McAlister Dysplasia" EXACT [] synonym: "Neonatal osseous dysplasia 1" EXACT [] synonym: "neonatal osseous dysplasia I" EXACT [] xref: MESH:C535395 is_a: DOID:0050648 ! atelosteogenesis [Term] id: DOID:9006898 name: Olfactory Nerve Injuries alt_id: RDO:0010056 def: "Traumatic injuries to the OLFACTORY NERVE. It may result in various olfactory dysfunction including a complete loss of smell." [MESH:D061219] synonym: "Cranial Nerve I Injury" EXACT [] synonym: "First Cranial Nerve Injuries" EXACT [] synonym: "First Cranial Nerve Injury" EXACT [] synonym: "First Nerve Trauma" EXACT [] synonym: "First-Nerve Traumas" EXACT [] synonym: "Olfactory Nerve Avulsion" EXACT [] synonym: "Olfactory Nerve Avulsions" EXACT [] synonym: "Olfactory Nerve Contusion" EXACT [] synonym: "Olfactory Nerve Contusions" EXACT [] synonym: "Olfactory Nerve Injury" EXACT [] synonym: "Olfactory Nerve Transection" EXACT [] synonym: "Olfactory Nerve Transections" EXACT [] synonym: "Olfactory Nerve Trauma" EXACT [] synonym: "Olfactory Nerve Traumas" EXACT [] synonym: "Traumatic First-Nerve Palsies" EXACT [] synonym: "Traumatic First Nerve Palsy" EXACT [] synonym: "Traumatic Olfactory Neuropathies" EXACT [] synonym: "Traumatic Olfactory Neuropathy" EXACT [] xref: MESH:D061219 is_a: DOID:367 ! olfactory nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9006899 name: North American Indian Childhood Cirrhosis alt_id: MIM:604901 synonym: "HEREDITARY NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS" EXACT [] synonym: "NAIC" EXACT [] xref: MESH:C565737 is_a: DOID:12236 ! primary biliary cholangitis [Term] id: DOID:9006900 name: Inosine Phosphorylase Deficiency, Immune Defect Due To alt_id: MIM:243080 xref: MESH:C565465 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9006901 name: Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy def: "This disease is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions." [EFO:0009158] synonym: "encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy" EXACT [] synonym: "PEBEL" EXACT [] xref: EFO:0009158 xref: MIM:PS617186 is_a: DOID:4724 ! brain edema is_a: DOID:9002704 ! Leukoencephalopathies created_by: mtutaj creation_date: 2019-03-20T08:24:30Z [Term] id: DOID:9006902 name: Frenkel Russe Syndrome alt_id: MIM:267900 synonym: "retinal telangiectasia and hypogammaglobulinemia" EXACT [] synonym: "retinal telangiectasia associated with hypogammaglobulinemia" EXACT [] xref: MESH:C535638 is_a: DOID:1272 ! telangiectasis is_a: DOID:225 ! syndrome is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:9000062 ! Retinal Hemorrhage [Term] id: DOID:9006906 name: Bilateral Choroidal Osteoma alt_id: MIM:118865 xref: MESH:C566124 is_a: DOID:9000660 ! Choristoma is_a: DOID:9000994 ! Choroid Neoplasms is_a: DOID:9004412 ! Osteoma [Term] id: DOID:9006907 name: Glaucoma 1, Open Angle, J alt_id: MIM:608695 synonym: "Glaucoma, Primary Open Angle, Juvenile-Onset, 2" EXACT [] synonym: "GLC1J" EXACT [] synonym: "JOAG2" EXACT [] xref: MESH:C563874 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9006909 name: Porokeratosis, Disseminated Superficial Actinic, 8 def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shape, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), the existence of several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, suggest that the distinctions among these variants may be artificial. Disseminated superficial actinic porokeratosis (DSAP) is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life. POROK8 is caused by heterozygous mutation in the SLC17A9 gene on chromosome 20q13. (OMIM)" [] synonym: "POROK8" EXACT [] synonym: "porokeratosis 8, disseminated superficial actinic type" EXACT [] xref: MIM:616063 is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9006910 name: Red Cell Phospholipid Defect with Hemolysis alt_id: MIM:179700 synonym: "High red cell phosphatidylcholine hemolytic anemia" EXACT [] synonym: "Leaky Red cell syndrome" EXACT [] synonym: "Phosphatidylcholine Red cell membrane disorder" EXACT [] xref: MESH:C535298 is_a: DOID:589 ! congenital hemolytic anemia is_a: DOID:9003603 ! Hemolysis [Term] id: DOID:9006911 name: Congenital Heart Defects, Multiple Types, 3 synonym: "CHTD3" EXACT [] synonym: "congenital heart defects, multiple types, with cardiac rhythm and conduction disturbances" EXACT [] xref: MIM:614954 is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types created_by: mtutaj creation_date: 2020-07-22T10:52:16Z [Term] id: DOID:9006912 name: Acute Alcohol Sensitivity synonym: "HANGOVER, SUSCEPTIBILITY TO" RELATED [] xref: MIM:610251 is_a: DOID:9004354 ! Alcohol-Related Disorders [Term] id: DOID:9006913 name: Short Sleep synonym: "Short Sleeper" EXACT [] synonym: "Short Sleeper Syndrome" EXACT [] synonym: "Short Sleeper Syndromes" EXACT [] synonym: "Short Sleep Phenotype" EXACT [] synonym: "Short Sleep Phenotypes" EXACT [] xref: EFO:0004807 xref: MIM:PS612975 is_a: DOID:535 ! sleep disorder created_by: mtutaj creation_date: 2019-12-19T10:18:47Z [Term] id: DOID:9006914 name: Defect in Hyaluronan Metabolism alt_id: MIM:604855 xref: MESH:C565742 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9006915 name: GSD IV, combined hepatic and myopathic synonym: "glycogen storage disease IV, combined hepatic and myopathic" EXACT [] xref: RDO:9000326 is_a: DOID:2750 ! glycogen storage disease IV [Term] id: DOID:9006916 name: Hepatic Granuloma def: "This is a relatively small nodular inflammatory lesion containing grouped mononuclear phagocytes, caused by infectious and noninfectious agents in the liver." [MESH:D006099] synonym: "liver granuloma" EXACT [] synonym: "NCI:C4936" EXACT [] xref: EFO:1000291 xref: MONDO:0006241 is_a: DOID:409 ! liver disease is_a: DOID:9002019 ! Granuloma created_by: slaulede creation_date: 2023-02-09T16:47:19Z [Term] id: DOID:9006918 name: lobar intracerebral hemorrhage def: "This is an intracerebral hemorrhage occuring within the cerebral lobes, either in the cerebral cortex or in the cortical-subcortical junction." [EFO:0010177] xref: EFO:0010177 is_a: DOID:9002676 ! Cerebral Hemorrhage created_by: slaulede creation_date: 2023-01-03T14:59:42Z [Term] id: DOID:9006919 name: Humoral Hypercalcemia Of Malignancy xref: MESH:C562390 xref: RDO:0012138 is_a: DOID:12678 ! hypercalcemia is_a: DOID:9007199 ! Paraneoplastic Syndromes [Term] id: DOID:9006921 name: CORPUS CALLOSUM, AGENESIS OF, WITH FACIAL ANOMALIES AND CEREBELLAR ATAXIA synonym: "agenesis of the corpus callosum with facial anomalies and cerebellar ataxia" EXACT [] synonym: "BIRK-FLUSSER SYNDROME" EXACT [] synonym: "CCAFCA" EXACT [] synonym: "FINE-FLUSSER SYNDROME" EXACT [] xref: MIM:616819 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006922 name: Adenocarcinoid Tumor alt_id: RDO:0004183 xref: MESH:C538230 is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:9006923 name: Caliciviridae Infections def: "Virus diseases caused by CALICIVIRIDAE. They include HEPATITIS E; VESICULAR EXANTHEMA OF SWINE; acute respiratory infections in felines, rabbit hemorrhagic disease, and some cases of gastroenteritis in humans." [MESH:D017250] synonym: "Caliciviridae Infection" EXACT [] synonym: "Caliciviridae infectious disease" EXACT [] synonym: "Calicivirus Infection" EXACT [] synonym: "Calicivirus Infections" EXACT [] xref: EFO:0007189 xref: MESH:D017250 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9006924 name: Cardiogenic Shock def: "Shock resulting from diminution of cardiac output in heart disease." [MESH:D012770] xref: MESH:D012770 is_a: DOID:5844 ! myocardial infarction is_a: DOID:9002549 ! Shock [Term] id: DOID:9006925 name: Hepatic Echinococcosis alt_id: RDO:0002220 def: "Liver disease caused by infections with parasitic tapeworms of the genus ECHINOCOCCUS, such as Echinococcus granulosus or Echinococcus multilocularis. Ingested Echinococcus ova burrow into the intestinal mucosa. The larval migration to the liver via the PORTAL VEIN leads to watery vesicles (HYDATID CYST)." [MESH:D004444] synonym: "Hepatic Alveolar Echinococcis" EXACT [] synonym: "Hepatic Alveolar Echinococcoses" EXACT [] synonym: "Hepatic Alveolar Echinococcosis" EXACT [] synonym: "Hepatic Echinococcoses" EXACT [] synonym: "Hepatic Hydatid Cyst" EXACT [] synonym: "Hepatic Hydatid Cysts" EXACT [] synonym: "Hepatic Hydatidoses" EXACT [] synonym: "Hepatic Hydatidosis" EXACT [] xref: MESH:D004444 is_a: DOID:1496 ! echinococcosis is_a: DOID:9003155 ! Parasitic Liver Diseases [Term] id: DOID:9006926 name: Karoshi Death def: "Sudden death from overwork, most often as a result of acute CARDIOVASCULAR STROKE." [MESH:D065907] synonym: "Karoshi deaths" EXACT [] xref: MESH:D065907 is_a: DOID:9007925 ! Sudden Cardiac Death [Term] id: DOID:9006927 name: Thyrotoxic Periodic Paralysis alt_id: MIM:188580 alt_id: MIM:613239 alt_id: MIM:614834 def: "A rare condition featuring recurrent episodes of skeletal muscle weakness that occurs only in people with high thyroid hormone levels (thyrotoxicosis)." [] synonym: "Thyrotoxic Periodic Paralysis, Susceptibility To, 1" RELATED [] synonym: "Thyrotoxic Periodic Paralysis, Susceptibility To, 2" RELATED [] synonym: "Thyrotoxic Periodic Paralysis, Susceptibility To, 3" RELATED [] synonym: "TTPP1" EXACT [] synonym: "TTPP2" EXACT [] synonym: "TTPP3" EXACT [] xref: MIM:PS188580 xref: MONDO:0019201 is_a: DOID:14452 ! hypokalemic periodic paralysis is_a: DOID:7997 ! thyrotoxicosis [Term] id: DOID:9006928 name: Viral Bronchiolitis def: "An acute inflammatory disease of the lower RESPIRATORY TRACT, caused by paramyxoviruses, occurring primarily in infants and young children; the viruses most commonly implicated are PARAINFLUENZA VIRUS TYPE 3; RESPIRATORY SYNCYTIAL VIRUS, HUMAN; and METAPNEUMOVIRUS." [MESH:D001990] synonym: "Viral Bronchiolitides" EXACT [] xref: MESH:D001990 is_a: DOID:2942 ! bronchiolitis is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9006929 name: Neonatal Herpes synonym: "Neonatal herpes simplex virus infection" EXACT [] xref: MESH:C536395 xref: RDO:0001967 is_a: DOID:8566 ! herpes simplex is_a: DOID:9008808 ! Pregnancy Complications, Infectious [Term] id: DOID:9006930 name: Generalized Epilepsy with Febrile Seizures Plus, Type 5 synonym: "GEFS+5, SUSCEPTIBILITY TO" RELATED [] synonym: "GEFS+, TYPE 5, SUSCEPTIBILITY TO" RELATED [] synonym: "GEFS5" NARROW [] synonym: "GEFSP5" EXACT [] synonym: "GEFSP5, SUSCEPTIBILITY TO" RELATED [] synonym: "GEFS, Type 5" EXACT [] xref: MESH:C565812 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus is_a: DOID:0111292 ! idiopathic generalized epilepsy 10 [Term] id: DOID:9006931 name: Humeroradial Synostosis with Craniofacial Anomalies alt_id: MIM:236410 xref: MESH:C566888 is_a: DOID:0060467 ! humeroradial synostosis is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9006932 name: Mental Retardation X-Linked, South African Type xref: MESH:C537450 is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9006933 name: Mucopolysaccharidosis-Plus Syndrome def: "An autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases. Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. (OMIM)" [] synonym: "MPSPS" EXACT [] xref: MIM:617303 is_a: DOID:12798 ! mucopolysaccharidosis is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006934 name: Digital Arthropathy-Brachydactyly, Familial alt_id: MIM:606835 synonym: "FDAB" EXACT [] xref: MESH:C564656 xref: NCI:C175208 is_a: DOID:0050581 ! brachydactyly is_a: DOID:8398 ! osteoarthritis [Term] id: DOID:9006935 name: Annular Epidermolytic Ichthyosis 2 def: "A disease characterized by erythema and blistering of skin at birth that improves without scarring, as well as palmoplantar keratoderma. Caused by heterozygous mutation in the keratin-1 gene KRT1." [MIM:620148] synonym: "AEI2" EXACT [] xref: MIM:620148 is_a: DOID:9005778 ! Annular Epidermolytic Ichthyosis created_by: mtutaj creation_date: 2022-12-06T08:26:49Z [Term] id: DOID:9006936 name: Anadysplasia-Like, Spontaneously Remitting Spondylometaphyseal Dysplasia is_a: DOID:0112295 ! spondylometaphyseal dysplasia created_by: rgd creation_date: 2016-04-12T00:00:00Z [Term] id: DOID:9006937 name: NSAID-Enteropathy def: "Injury of the small intestine caused by non-steroidal anti-inflammatory drugs involving lesions that may contribute to ulceration." [] synonym: "nonsteroidal anti-inflammatory drug-induced enteropathy" EXACT [] synonym: "NSAID-gastroenteropathy" RELATED [] synonym: "NSAID-induced enteropathy" EXACT [] is_a: DOID:9009107 ! Drug-Induced Enteropathy created_by: rgd creation_date: 2015-06-09T00:00:00Z [Term] id: DOID:9006938 name: Ptosis, Strabismus, and Ectopic Pupils alt_id: MIM:178330 xref: MESH:C566736 is_a: DOID:0060260 ! ptosis is_a: DOID:238 ! pupil disease is_a: DOID:540 ! strabismus [Term] id: DOID:9006939 name: Lyme Neuroborreliosis def: "Nervous system infections caused by tick-borne spirochetes of the BORRELIA BURGDORFERI GROUP. The disease may affect elements of the central or peripheral nervous system in isolation or in combination. Common clinical manifestations include a lymphocytic meningitis, cranial neuropathy (most often a facial neuropathy), POLYRADICULOPATHY, and a mild loss of memory and other cognitive functions. Less often more extensive inflammation involving the central nervous system (encephalomyelitis) may occur. In the peripheral nervous system, B. burgdorferi infection is associated with mononeuritis multiplex and polyradiculoneuritis. (From J Neurol Sci 1998 Jan 8;153(2):182-91)" [MESH:D020852] synonym: "Borrelia burgdorferi Neuroborreliosis" EXACT [] synonym: "Central Nervous System Lyme Disease" EXACT [] synonym: "Lyme Disease Encephalopathies" EXACT [] synonym: "Lyme Disease Encephalopathy" EXACT [] synonym: "Lyme Disease Mononeuritis Multiplex" EXACT [] synonym: "Lyme Meningoencephalitis" EXACT [] synonym: "Lyme Meningoradiculitis" EXACT [] synonym: "Lyme Polyradiculitides" EXACT [] synonym: "Lyme Polyradiculitis" EXACT [] synonym: "Lyme Polyradiculopathies" EXACT [] synonym: "Lyme Polyradiculopathy" EXACT [] synonym: "Nervous System Lyme Borreliosis" EXACT [] synonym: "Nervous System Lyme Disease" EXACT [] synonym: "Neuroborrelioses, Borrelia burgdorferi" EXACT [] synonym: "Peripheral Nervous System Lyme Disease" EXACT [] xref: MESH:D020852 is_a: DOID:11729 ! Lyme disease is_a: DOID:9002742 ! Central Nervous System Bacterial Infections [Term] id: DOID:9006940 name: Ring Chromosomes def: "Aberrant chromosomes with no ends, i.e., circular." [MESH:D012303] synonym: "Ring Chromosome" EXACT [] xref: MESH:D012303 xref: RDO:0000443 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9006941 name: Corneal Perforation def: "A puncture or hole through the CORNEAL STROMA resulting from various diseases or trauma." [MESH:D057112] synonym: "Corneal Perforations" EXACT [] xref: MESH:D057112 is_a: DOID:9004321 ! Corneal Injuries [Term] id: DOID:9006942 name: Familial Febrile Seizures 3A synonym: "Familial Febrile Convulsions 3A" EXACT [] xref: MESH:C567820 xref: NCI:C176016 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:9006943 name: GARG-MISHRA PROGEROID SYNDROME def: "This disease is characterized by severe dwarfism, mandibular hypoplasia, microphthalmia, hyperopia, and partial lipodystrophy." [MIM:620601] synonym: "GMPGS" EXACT [] xref: MIM:620601 relationship: has_component DOID:0080299 ! partial lipodystrophy relationship: has_component DOID:10629 ! microphthalmia relationship: has_component DOID:9000066 ! Jaw Abnormalities relationship: has_component DOID:9007661 ! Dwarfism relationship: has_component DOID:9834 ! hyperopia created_by: slaulederkind creation_date: 2024-01-29T14:18:19Z [Term] id: DOID:9006945 name: Diabetic Cardiomyopathies def: "Diabetes complications in which VENTRICULAR REMODELING in the absence of CORONARY ATHEROSCLEROSIS and hypertension results in cardiac dysfunctions, typically LEFT VENTRICULAR DYSFUNCTION. The changes also result in myocardial hypertrophy, myocardial necrosis and fibrosis, and collagen deposition due to impaired glucose tolerance." [MESH:D058065] synonym: "Diabetic Cardiomyopathy" EXACT [] xref: EFO:1001458 xref: MESH:D058065 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:9002661 ! Diabetes Complications [Term] id: DOID:9006946 name: Nonimmune Chronic Idiopathic Neutropenia, Adult alt_id: MIM:607847 synonym: "NI-CINA" EXACT [] synonym: "Nonimmune Chronic Idiopathic Neutropenia of Adults" EXACT [] xref: MESH:C564320 is_a: DOID:1227 ! neutropenia is_a: DOID:630 ! genetic disease [Term] id: DOID:9006947 name: Fibroadenoma def: "An adenoma containing fibrous tissue. It should be differentiated from ADENOFIBROMA which is a tumor composed of connective tissue (fibroma) containing glandular (adeno-) structures. (From Dorland, 27th ed)" [MESH:D018226] synonym: "fibroadenomas" EXACT [] xref: EFO:1000254 xref: MESH:D018226 is_a: DOID:657 ! adenoma is_a: DOID:9007017 ! Fibroepithelial Neoplasms [Term] id: DOID:9006948 name: Vascular Tissue Neoplasms def: "Neoplasms composed of vascular tissue. This concept does not refer to neoplasms located in blood vessels." [MESH:D009383] synonym: "blood vessel neoplasm" EXACT [] synonym: "blood vessel tumor" EXACT [] synonym: "blood vessel tumors" EXACT [] synonym: "blood vessel tumour disorder" EXACT [] synonym: "haemangiomatous tumour" EXACT [] synonym: "neoplasm of great vessel" EXACT [] synonym: "vascular tissue neoplasm" EXACT [] synonym: "vascular tumors" EXACT [] xref: MESH:D009383 is_a: DOID:178 ! vascular disease is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9006949 name: Martsolf Syndrome synonym: "cataract-intellectual disability-hypogonadism syndrome" EXACT [] synonym: "cataract-mental retardation-hypogonadism" EXACT [] xref: GARD:3406 xref: MESH:C536028 xref: MIM:PS212720 xref: ORDO:1387 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2023-02-10T16:06:00Z [Term] id: DOID:9006950 name: Sternal Cleft synonym: "Congenital sternal cleft" EXACT [] xref: MESH:C537489 is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9006951 name: Autosomal Dominant Intellectual Developmental Disorder 70 def: "A disease characterized by mild global developmental delay, moderately impaired intellectual disability with speech difficulties, and behavioral abnormalities. Caused by a specific heterozygous missense mutation (R1740Q) in the SETD2 gene on chromosome 3p21." [MIM:620157] synonym: "MRD70" EXACT [] xref: MIM:620157 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2022-12-16T12:11:01Z [Term] id: DOID:9006952 name: Chromosome 19 Ring xref: MESH:C538310 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9006953 name: Seow Najjar Syndrome synonym: "Enamel hypoplasia, capsular cataracts, and ductal stenosis" EXACT [] xref: MESH:C537584 xref: RDO:0003450 is_a: DOID:225 ! syndrome is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:83 ! cataract is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006955 name: Hypertrophic Neuropathy and Cataract alt_id: MIM:239900 xref: MESH:C565490 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:83 ! cataract [Term] id: DOID:9006956 name: nephrotoxicity def: "This is toxicity that causes injury to the kidney or damages its function. It is a poisonous effect of some substances, both toxic chemicals and medications." [EFO:0011056, https://en.wikipedia.org/wiki/Nephrotoxicity] synonym: "kidney toxicity" EXACT [] synonym: "renal toxicity" EXACT [] xref: EFO:0011056 is_a: DOID:557 ! kidney disease is_a: DOID:9004611 ! Pathologic Processes is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions created_by: slaulede creation_date: 2022-10-13T15:06:38Z [Term] id: DOID:9006957 name: Lymphatic Malformation 8 synonym: "LMPHM8" EXACT [] xref: MIM:618773 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:9008386 ! Hydrops Fetalis created_by: mtutaj creation_date: 2020-02-13T08:19:16Z [Term] id: DOID:9006958 name: Generalized Arterial Calcification of Infancy, 1 synonym: "GACI1" EXACT [] xref: MIM:208000 xref: NCI:C128805 is_a: DOID:0050644 ! arterial calcification of infancy created_by: mtutaj creation_date: 2019-03-15T12:01:49Z [Term] id: DOID:9006959 name: Congenital Dyserythropoiesis with Internuclear Chromatin Bridges and Ultrastructurally Normal Erythroblast Heterochromatin alt_id: MIM:603529 xref: MESH:C566368 is_a: DOID:2355 ! anemia [Term] id: DOID:9006960 name: Perimeningeal Infections def: "Infectious processes, including abscesses, effusions, and empyemas which occur in the epidural or subdural spaces surrounding the brain and spinal cord." [MESH:D020819] synonym: "Parameningeal Infection" EXACT [] synonym: "Parameningeal Infections" EXACT [] synonym: "Perimeningeal Infection" EXACT [] xref: EFO:1001392 xref: MESH:D020819 xref: RDO:0006638 is_a: DOID:9000025 ! Central Nervous System Infections [Term] id: DOID:9006961 name: Asthma and Nasal Polyps xref: MESH:C565739 xref: RDO:0014297 is_a: DOID:2841 ! asthma is_a: DOID:9001472 ! Nasal Polyps [Term] id: DOID:9006962 name: Takenouchi-Kosaki Syndrome synonym: "macrothrombocytopenia and mental retardation syndrome" EXACT [] synonym: "TKS" EXACT [] xref: MIM:616737 is_a: DOID:1059 ! intellectual disability is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome [Term] id: DOID:9006963 name: Pseudohypoaldosteronism Type IB1, Autosomal Recessive synonym: "PHA1B1" EXACT [] xref: MIM:264350 is_a: DOID:0060854 ! autosomal recessive pseudohypoaldosteronism type 1 created_by: mtutaj creation_date: 2022-12-05T08:47:56Z [Term] id: DOID:9006966 name: Pseudomonas Aeruginosa Keratitis def: "Pseudomonas aeruginosa infection of the cornea which sometime follows the wearing of contact lenses." [] synonym: "PA keratitis" EXACT [] synonym: "Pseudomonas keratitis" EXACT [] xref: RDO:9000040 is_a: DOID:9003321 ! Bacterial Keratitis [Term] id: DOID:9006967 name: Generalized Hypertrichosis Terminalis, with or without Gingival Hyperplasia alt_id: MIM:135400 synonym: "Chromosome 17q24.2-q24.3 Deletion Syndrome" EXACT [] synonym: "CHROMOSOME 17q24.2-q24.3 DUPLICATION SYNDROME" EXACT [] synonym: "Fibromatosis, Gingival, with Hypertrichosis" EXACT [] synonym: "HTC3" EXACT [] synonym: "HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA" EXACT [] synonym: "Microdeletion 17q24.2-q24.3 Syndrome" EXACT [] synonym: "MICRODUPLICATION 17q24.2-q24.3 SYNDROME" EXACT [] xref: MESH:C565016 is_a: DOID:0060466 ! gingival fibromatosis is_a: DOID:420 ! hypertrichosis is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9006968 name: Pleoconial Myopathy with Salt Craving alt_id: MIM:262900 xref: MESH:C564883 is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:9006970 name: Cestode Infections def: "Infections with true tapeworms of the helminth subclass CESTODA." [MESH:D002590] synonym: "Bertielliases" EXACT [] synonym: "Bertielliasis" EXACT [] synonym: "Cenuriases" EXACT [] synonym: "Cenuriasis" EXACT [] synonym: "Cestode Infection" EXACT [] synonym: "Coenuriases" EXACT [] synonym: "Coenuriasis" EXACT [] synonym: "Dipylidiases" EXACT [] synonym: "Dipylidiasis" EXACT [] synonym: "Raillietiniases" EXACT [] synonym: "Raillietiniasis" EXACT [] synonym: "Tapeworm Infection" EXACT [] synonym: "Tapeworm Infections" EXACT [] xref: EFO:1001287 xref: MESH:D002590 is_a: DOID:883 ! parasitic helminthiasis infectious disease [Term] id: DOID:9006971 name: Thyroid Carcinoma, Nonmedullary 1 alt_id: MIM:188550 alt_id: MIM:606240 alt_id: RDO:0009018 synonym: "NMTC1" EXACT [] synonym: "NMTC3" EXACT [] synonym: "THYROID CANCER, NONMEDULLARY, 1" EXACT [] synonym: "THYROID CANCER, NONMEDULLARY, 3" EXACT [] xref: MESH:C565247 xref: RDO:0013942 is_a: DOID:3969 ! papillary thyroid carcinoma [Term] id: DOID:9006972 name: Renal Cell Carcinoma 1 xref: MESH:C538557 xref: RDO:0004499 is_a: DOID:4450 ! renal cell carcinoma [Term] id: DOID:9006973 name: Acute Experimental Autoimmune Encephalomyelitis def: "An acute version of EAE, an experimental animal model for central nervous system demyelinating disease, in which focal demyelination is mild." [] synonym: "acute experimental allergic encephalomyelitis" EXACT [] xref: RDO:9000097 is_a: DOID:9002763 ! Experimental Autoimmune Encephalomyelitis [Term] id: DOID:9006974 name: Podder-Tolmie Syndrome synonym: "Meningoencephalocele, arthrogryposis and hypoplastic thumbs" EXACT [] xref: MESH:C537518 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome is_a: DOID:9000983 ! Encephalocele is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9006975 name: Rhizomelic Skeletal Dysplasia with Retinitis Pigmentosa alt_id: MIM:609047 xref: MESH:C563806 is_a: DOID:0080006 ! bone development disease is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9006976 name: Erythema def: "Redness of the skin produced by congestion of the capillaries. This condition may result from a variety of causes." [MESH:D004890] synonym: "Erythemas" EXACT [] xref: MESH:D004890 is_a: DOID:37 ! skin disease [Term] id: DOID:9006977 name: Rickettsial Pneumonia def: "Pneumonia caused by infection with bacteria of the family RICKETTSIACEAE." [MESH:D011022] synonym: "Rickettsial Pneumonias" EXACT [] xref: EFO:0007472 xref: MESH:D011022 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9000458 ! Rickettsiaceae Infections [Term] id: DOID:9006978 name: Brachydactyly, Type A2, With Microcephaly alt_id: MIM:211369 xref: MESH:C565894 is_a: DOID:0110965 ! brachydactyly type A2 is_a: DOID:10907 ! microcephaly [Term] id: DOID:9006980 name: Bacterial Sexually Transmitted Diseases alt_id: RDO:0005183 def: "Bacterial diseases transmitted or propagated by sexual conduct." [MESH:D015231] synonym: "Bacterial Sexually Transmitted Disease" EXACT [] synonym: "Bacterial Venereal Disease" EXACT [] synonym: "Bacterial Venereal Diseases" EXACT [] xref: EFO:0003955 xref: MESH:D015231 is_a: DOID:9004302 ! Sexually Transmitted Diseases [Term] id: DOID:9006981 name: Oocyte/Zygote/Embryo Maturation Arrest 21 def: "A female infertility caused by zygote arrest due to pronuclei fusion failure. Caused by heterozygous mutation in the CHEK1 gene on chromosome 11q24." [MIM:620610] synonym: "OZEMA21" EXACT [] xref: MIM:620610 is_a: DOID:9007456 ! Female Infertility created_by: tutajm creation_date: 2023-12-04T12:50:00Z [Term] id: DOID:9006982 name: Ovotesticular Disorders of Sex Development def: "Conditions of sexual ambiguity in which the individual possesses gonadal tissues of both sexes, tissues from the OVARY and the TESTIS. There can be a testis on one side and an ovary on the other (lateral), or there may be combined ovarian and testicular tissue (ovotestes) on each side (bilateral). The karyotype may be 46,XX; 46,XY; or a mosaic of 46,XX/46,XY. These disorders have historically been called true hermaphroditism." [MESH:D050090] synonym: "46,XX Gonadal Dysgenesis, Complete, Sry-Positive" EXACT [] synonym: "46,XX True Hermaphroditism, Sry-Positive" EXACT [] synonym: "Familial True Hermaphroditism" EXACT [] synonym: "Familial True Hermaphroditisms" EXACT [] synonym: "Familial XX True Hermaphroditism" EXACT [] synonym: "Ovotesticular Disorder Of Sex Development" EXACT [] synonym: "Ovotesticular DSD" EXACT [] synonym: "Ovotesticular DSDs" EXACT [] synonym: "True Hermaphroditism" EXACT [] synonym: "True Hermaphroditisms" EXACT [] synonym: "XX Male Syndrome, Sry Positive" EXACT [] xref: MESH:D050090 xref: NCI:C85207 xref: RDO:0007567 is_a: DOID:1923 ! disorder of sexual development [Term] id: DOID:9006985 name: Juvenile-Onset Dystonia alt_id: MIM:607371 alt_id: RDO:0003589 synonym: "ACTB-RELATED BAFOPATHY" BROAD [] synonym: "DJO" EXACT [] xref: MESH:C537704 is_a: DOID:543 ! dystonia [Term] id: DOID:9006986 name: Autoimmune Enteropathy xref: MESH:C538273 xref: MONDO:0019787 is_a: DOID:14040 ! autoimmune polyendocrine syndrome [Term] id: DOID:9006987 name: Fitzsimmons-McLachlan-Gilbert syndrome alt_id: MIM:309560 synonym: "Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis" EXACT [] xref: MESH:C537058 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:9006988 name: Congenital Myasthenic Syndrome, Fast-Channel alt_id: RDO:0012991 xref: MESH:C563832 is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:9006989 name: Osebold Skeletal Dysplasia Osteolysis Syndrome alt_id: MIM:603389 xref: MESH:C566380 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:9006990 name: Deafness-Oligodontia Syndrome alt_id: MIM:221740 synonym: "Autosomal recessive sensorineural hearing impairment, dizziness, and hypodontia" EXACT [] synonym: "Congenital profound sensorineural deafness and oligodontia" EXACT [] xref: MESH:C538049 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:13714 ! anodontia is_a: DOID:225 ! syndrome [Term] id: DOID:9006991 name: Pelvic Lipomatosis with Crossed Renal Ectopia alt_id: MIM:169545 xref: MESH:C566812 is_a: DOID:3927 ! pelvic lipomatosis [Term] id: DOID:9006992 name: MORM Syndrome alt_id: MIM:610156 synonym: "IMPAIRED INTELLECTUAL DEVELOPMENT, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENIS SYNDROME" EXACT [] synonym: "INPP5E-RELATED CONDITION" BROAD [] synonym: "Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis" EXACT [] synonym: "Mental retardation, truncal Obesity, Retinal dystrophy and Micropenis syndrome" EXACT [] synonym: "MORMS" EXACT [] xref: MESH:C536984 is_a: DOID:1059 ! intellectual disability is_a: DOID:1529 ! penile disease is_a: DOID:225 ! syndrome is_a: DOID:5614 ! eye disease is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9970 ! obesity [Term] id: DOID:9006994 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN def: "This is a disease characterized by delayed psychomotor development, intellectual disability, variable dysmorphic features, including microcephaly, downslanting palpebral fissures, strabismus, and external ear abnormalities, and asymptomatic persistence of fetal hemoglobin." [MIM:617101] synonym: "BCL11A-RELATED INTELLECTUAL DISABILITY" EXACT [] synonym: "DIAS-LOGAN SYNDROME" EXACT [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER WITH HEREDITARY PERSISTENCE OF FETAL HEMOGLOBIN" EXACT [] xref: MIM:617101 xref: RDO:9001620 is_a: DOID:0080773 ! delta beta-thalassemia is_a: DOID:1059 ! intellectual disability is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9006995 name: Faciomandibular Myoclonus, Nocturnal alt_id: MIM:606840 synonym: "Nocturnal facio-mandibular myoclonus" EXACT [] synonym: "PARASOMNIA, SLEEP BRUXISM TYPE" EXACT [] synonym: "PSMNSB" EXACT [] xref: MESH:C536389 is_a: DOID:9004744 ! Sleep Bruxism [Term] id: DOID:9006996 name: Retinitis Pigmentosa 79 synonym: "RP79" EXACT [] xref: MIM:617460 is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9006997 name: Dilated Cardiomyopathy 1OO def: "A disease characterized by enlarged left ventricular end-diastolic diameter and reduced left ventricular ejection fraction, resulting in cardiac failure that may result in premature death. Caused by heterozygous mutation in the VEZF1 gene on chromosome 17q22." [MIM:620247] synonym: "CMD1OO" EXACT [] xref: MIM:620247 is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2023-02-16T15:28:27Z [Term] id: DOID:9006998 name: Cystic Disease of Lung synonym: "PCLUD" EXACT [] synonym: "polycystic lung disease" EXACT [] xref: MESH:C563237 xref: MIM:219600 xref: MONDO:0009060 is_a: DOID:850 ! lung disease [Term] id: DOID:9006999 name: Synesthesia alt_id: MIM:612759 def: "The experience of involuntary sensory cross activation where the presentation of a particular stimulus elicits a secondary sensory-perceptual experience. It most commonly occurs in the association of color with linguistic stimuli such as letters, numbers, words, or music, but can also occur between other senses. Although synesthesia can be acquired or transient due to trauma or drug use, there is also a strong genetic component, with a prevalence of about 1 in 2,000 individuals and a female to male ratio of 6:1. (MESH)" [] synonym: "Chromesthesia" EXACT [] synonym: "Colored Hearing Synesthesia" EXACT [] synonym: "Grapheme-Color Synesthesia" EXACT [] synonym: "Ideaesthesia" EXACT [] synonym: "Ideasthesia" EXACT [] synonym: "Lexical-Gustatory Synesthesia" EXACT [] synonym: "SYNSTH" EXACT [] xref: MESH:D000080311 is_a: DOID:9004523 ! Perceptual Disorders [Term] id: DOID:9007 name: sudden infant death syndrome alt_id: MIM:272120 def: "A syndrome that is characterized by the sudden death of an infant that is not predicted by medical history and remains unexplained after a thorough forensic autopsy and detailed death scene investigation. (DO)" [http://en.wikipedia.org/wiki/Sudden_infant_death_syndrome "DO", http://omim.org/entry/272120 "DO", http://www.nlm.nih.gov/medlineplus/suddeninfantdeathsyndrome.html "DO"] synonym: "cot death" EXACT [] synonym: "cot deaths" EXACT [] synonym: "crib death" EXACT [] synonym: "SID" EXACT [] synonym: "SIDS" EXACT [] synonym: "sudden death of nonspecific cause in infancy" EXACT [] synonym: "sudden infant death" EXACT [] xref: EFO:0005303 xref: GARD:7711 xref: ICD9CM:798.0 xref: MESH:D013398 xref: NCI:C85173 is_a: DOID:225 ! syndrome is_a: DOID:9006030 ! Infant Death is_a: DOID:9007820 ! Sudden Death [Term] id: DOID:9007000 name: Cleft Palate, Deafness, and Oligodontia alt_id: MIM:216300 xref: MESH:C565844 is_a: DOID:13714 ! anodontia is_a: DOID:674 ! cleft palate is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9007001 name: Bradycardia def: "Cardiac arrhythmias that are characterized by excessively slow HEART RATE, usually below 50 beats per minute in human adults. They can be classified broadly into SINOATRIAL NODE dysfunction and ATRIOVENTRICULAR BLOCK." [MESH:D001919] synonym: "Bradyarrhythmia" EXACT [] synonym: "Bradyarrhythmias" EXACT [] synonym: "Bradycardias" EXACT [] xref: MESH:D001919 xref: RDO:0005048 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9007002 name: Von Willebrand Disease, X-Linked Form alt_id: MIM:314560 xref: MESH:C564041 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:9007003 name: Mediastinal Diseases def: "Disorders of the mediastinum, general or unspecified." [MESH:D008477] synonym: "Mediastinal Disease" EXACT [] xref: MESH:D008477 xref: RDO:0002192 is_a: DOID:0060118 ! thoracic disease [Term] id: DOID:9007005 name: Branchiogenic-Deafness Syndrome alt_id: MIM:609166 xref: MESH:C563780 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9007006 name: Maple Syrup Urine Disease, Type 1B alt_id: MIM:620698 synonym: "MAPLE SYRUP URINE DISEASE, CLASSIC, TYPE IB" EXACT [] synonym: "Maple Syrup Urine Disease, Type IB" EXACT [] synonym: "MSUD1B" EXACT [] xref: MESH:C535711 is_a: DOID:9269 ! maple syrup urine disease [Term] id: DOID:9007007 name: Succinate-Coa Ligase Deficiency synonym: "Mitochondrial Dna Depletion, Encephalomyopathic Form, with Methylmalonic Aciduria" EXACT [] synonym: "Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form, with Mild Methylmalonic Aciduria" EXACT [] synonym: "Succinate-Coenzyme A Ligase Deficiency" EXACT [] xref: MESH:C580473 xref: RDO:0015933 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9007008 name: Late-Onset Localized Junctional Epidermolysis Bullosa with Mental Retardation alt_id: MIM:226440 synonym: "Epidermolysis bullosa simplex localisata associated with anodontia, hair and nail disorders" EXACT [] xref: MESH:C535492 is_a: DOID:1059 ! intellectual disability is_a: DOID:13714 ! anodontia is_a: DOID:3209 ! junctional epidermolysis bullosa is_a: DOID:4123 ! nail disease is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:9007009 name: Facial Neoplasms def: "New abnormal growth of tissue in the FACE." [MESH:D005153] synonym: "Facial Neoplasm" EXACT [] xref: MESH:D005153 xref: RDO:0004080 is_a: DOID:9006169 ! Head and Neck Neoplasms [Term] id: DOID:9007010 name: Demyelinating Autoimmune Diseases, CNS alt_id: RDO:0005168 def: "Conditions characterized by loss or dysfunction of myelin (see MYELIN SHEATH) in the brain, spinal cord, or optic nerves secondary to autoimmune mediated processes. This may take the form of a humoral or cellular immune response directed toward myelin or OLIGODENDROGLIA associated autoantigens." [MESH:D020278] synonym: "autoimmune demyelinating diseases, central nervous system" EXACT [] synonym: "Autoimmune Demyelinating Diseases, Cerebral" EXACT [] synonym: "Brain Autoimmune Demyelinating Diseases" EXACT [] synonym: "CNS Autoimmune Demyelinating Disorders" EXACT [] synonym: "Demyelinating Disease, Autoimmune, CNS" EXACT [] synonym: "spinal cord demyelinating autoimmune diseases" EXACT [] xref: EFO:1000870 xref: MESH:D020278 is_a: DOID:0060004 ! autoimmune disease of central nervous system is_a: DOID:3213 ! demyelinating disease is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:9007011 name: Autosomal Recessive Nonsyndromic Deafness 123 def: "A disease characterized by nonsyndromic bilateral severe to profound hearing impairment, with onset as early as the first decade of life. Caused by homozygous mutation in the STX4 gene on chromosome 16p11." [MIM:620745] synonym: "DFNB123" EXACT [] xref: MIM:620745 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: tutajm creation_date: 2024-03-18T12:21:24Z [Term] id: DOID:9007012 name: THAUVIN-ROBINET-FAIVRE SYNDROME def: "An autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. (OMIM)" [] synonym: "TROFAS" EXACT [] xref: MIM:617107 xref: RDO:9001588 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9006084 ! Gigantism is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9007014 name: BCG Infection, Generalized Familial Semibenign, Autosomal Dominant synonym: "BCG INFECTION, GENERALIZED FAMILIAL SEMIBENIGN" EXACT [] xref: MESH:C565909 xref: RDO:0014423 is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections [Term] id: DOID:9007015 name: Cleidorhizomelic Syndrome alt_id: MIM:119650 synonym: "cleido rhizomelic syndrome" EXACT [] synonym: "rhizomelic shortness with clavicular defect" EXACT [] synonym: "Wallis Zieff Goldblatt syndrome" EXACT [] xref: MESH:C536428 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9007016 name: Tetralogy of Fallot Syndrome, Autosomal Recessive alt_id: MIM:605618 xref: MESH:C565314 is_a: DOID:6419 ! tetralogy of Fallot [Term] id: DOID:9007017 name: Fibroepithelial Neoplasms def: "Neoplasms composed of fibrous and epithelial tissue. The concept does not refer to neoplasms located in fibrous tissue or epithelium." [MESH:D018225] synonym: "Fibroepithelial Neoplasm" EXACT [] xref: EFO:0007271 xref: MESH:D018225 is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms is_a: DOID:9008446 ! Fibrous Tissue Neoplasms [Term] id: DOID:9007019 name: Pneumocystis Infections def: "Infections with species in the genus PNEUMOCYSTIS, a fungus causing interstitial plasma cell pneumonia (PNEUMONIA, PNEUMOCYSTIS) and other infections in humans and other MAMMALS. Immunocompromised patients, especially those with AIDS, are particularly susceptible to these infections. Extrapulmonary sites are rare but seen occasionally." [MESH:D016720] synonym: "Pneumocystis carinii Infection" EXACT [] synonym: "Pneumocystis carinii Infections" EXACT [] synonym: "Pneumocystis Infection" EXACT [] synonym: "Pneumocystis infectious disease" EXACT [] xref: EFO:0007447 xref: MESH:D016720 xref: RDO:0006375 is_a: DOID:1564 ! fungal infectious disease [Term] id: DOID:9007020 name: Mollica-Pavone-Antener Syndrome synonym: "dwarfism, intellectual disability, and eye abnormality" EXACT [] synonym: "dwarfism, mental retardation, and eye abnormality" EXACT [] synonym: "Mollica syndrome" EXACT [] synonym: "short stature, mental retardation and ocular alterations" EXACT [] xref: MESH:C535809 xref: MIM:223540 xref: MONDO:0009128 xref: ORDO:2650 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:5614 ! eye disease is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9007021 name: Bordetella Infections def: "Infections with bacteria of the genus BORDETELLA." [MESH:D001885] synonym: "bordetella infection" EXACT [] synonym: "Bordetella Infectious disease" EXACT [] xref: EFO:1001275 xref: MESH:D001885 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9007022 name: Pfeiffer Palm Teller Syndrome alt_id: MIM:261560 synonym: "PPT SYNDROME" EXACT [] synonym: "SHORT STATURE, UNIQUE FACIES, ENAMEL HYPOPLASIA, PROGRESSIVE JOINT STIFFNESS, AND HIGH-PITCHED VOICE" EXACT [] xref: MESH:C537889 is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007023 name: Prenatal Injuries def: "Damages to the EMBRYO, MAMMALIAN or the FETUS before BIRTH. Damages can be caused by any factors including biological, chemical, or physical." [MESH:D049188] synonym: "Prenatal Injury" EXACT [] xref: MESH:D049188 xref: RDO:0006411 is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9007024 name: Neuropathy, with Paraprotein in Serum, Cerebrospinal Fluid and Urine alt_id: MIM:162600 xref: MESH:C563516 is_a: DOID:870 ! neuropathy [Term] id: DOID:9007025 name: Keratouveitis def: "Inflammation of part or all of the uvea and of the cornea." [] is_a: DOID:13141 ! uveitis is_a: DOID:4677 ! keratitis [Term] id: DOID:9007026 name: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY def: "This disease is a clinically heterogeneous neurodevelopmental disorder characterized by motor delay, speech delay, and variably impaired intellectual development apparent from infancy or early childhood. About half of affected individuals develop various types of seizures that are not as severe as observed in the allelic disorder DEE5 (developmental and epileptic encephalopathy 5). In general, the phenotype is similar to but milder than DEE5." [MIM:620540] synonym: "DEVEP" EXACT [] xref: MIM:620540 is_a: DOID:9004429 ! Neurodevelopmental Disorders relationship: has_component DOID:1826 ! epilepsy created_by: slaulederkind creation_date: 2024-09-16T16:23:25Z [Term] id: DOID:9007027 name: Hyperlysinemia due to Defect in Lysine Transport into Mitochondria alt_id: MIM:238710 xref: MESH:C565499 is_a: DOID:1059 ! intellectual disability is_a: DOID:9274 ! hyperlysinemia [Term] id: DOID:9007028 name: Episodic Muscle Weakness, X-Linked alt_id: MIM:300211 synonym: "EMWX" EXACT [] xref: MESH:C564565 xref: RDO:0013485 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9005532 ! Muscle Weakness [Term] id: DOID:9007030 name: Endocardial Fibroelastosis and Coarctation of Abdominal Aorta alt_id: MIM:226100 xref: MESH:C565592 is_a: DOID:12929 ! endocardial fibroelastosis is_a: DOID:9007908 ! Aortic Coarctation [Term] id: DOID:9007031 name: Uveal Neoplasms def: "Tumors or cancer of the UVEA." [] synonym: "uveal neoplasm" EXACT [] synonym: "uveal tumor" EXACT [] xref: MESH:D014604 xref: NCI:C3436 is_a: DOID:3480 ! uveal disease is_a: DOID:9004059 ! Eye Neoplasms [Term] id: DOID:9007032 name: Neonatal Ovarian Cyst synonym: "Fetal ovarian cyst" EXACT [] xref: MESH:C536396 is_a: DOID:5119 ! ovarian cyst [Term] id: DOID:9007033 name: Ventricular Premature Complexes def: "A type of cardiac arrhythmia with premature contractions of the HEART VENTRICLES. It is characterized by the premature QRS complex on ECG that is of abnormal shape and great duration (generally >129 msec). It is the most common form of all cardiac arrhythmias. Premature ventricular complexes have no clinical significance except in concurrence with heart diseases." [MESH:D018879] synonym: "Premature Ventricular Beat" EXACT [] synonym: "Premature Ventricular Beats" EXACT [] synonym: "Premature Ventricular Complex" EXACT [] synonym: "Premature Ventricular Contraction" EXACT [] synonym: "Premature Ventricular Contractions" EXACT [] synonym: "PVC" EXACT [] synonym: "Ventricular Ectopic Beat" EXACT [] synonym: "Ventricular Ectopic Beats" EXACT [] synonym: "ventricular ectopy" EXACT [] synonym: "Ventricular Extrasystole" EXACT [] synonym: "Ventricular Extrasystoles" EXACT [] synonym: "VPC" EXACT [] xref: EFO:0009276 xref: MESH:D018879 is_a: DOID:9002737 ! Premature Cardiac Complexes [Term] id: DOID:9007037 name: Portal Vein Obstruction def: "Obstruction of the portal vein by a blood clot (THROMBUS) or malignant obstruction." [] synonym: "Hepatic portal vein obstruction" EXACT [] synonym: "Occlusion of hepatic portal vein" EXACT [] is_a: DOID:9003505 ! Venous Thromboembolism created_by: rgd creation_date: 2016-06-03T00:00:00Z [Term] id: DOID:9007038 name: Acquired Agranulocytosis synonym: "Agranulocytic Angina" EXACT [] synonym: "Granulocytopenia, Primary" EXACT [] synonym: "Neutropenia, Malignant" EXACT [] xref: MESH:C538171 xref: RDO:0004110 is_a: DOID:12987 ! agranulocytosis [Term] id: DOID:9007039 name: Ventricular Dysfunction def: "A condition in which HEART VENTRICLES exhibit impaired function." [MESH:D018754] synonym: "Ventricular Dysfunctions" EXACT [] xref: MESH:D018754 xref: RDO:0007211 is_a: DOID:114 ! heart disease [Term] id: DOID:9007040 name: Foot-and-Mouth Disease def: "A highly infectious disease caused by FOOT AND MOUTH DISEASE VIRUS that affects mammals of the ARTIODACTYLA order (CATTLE; SHEEP; GOATS; and PIGS) and is characterized by high fever followed by the appearance of blisters inside the mouth and on the feet." [MESH:D005536] synonym: "Foot-and-Mouth Diseases" EXACT [] xref: EFO:0007277 xref: MESH:D005536 is_a: DOID:9003470 ! Picornaviridae Infections is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9007041 name: Actinobacillus Infections alt_id: RDO:0004724 def: "Infections with bacteria of the genus ACTINOBACILLUS." [MESH:D000189] synonym: "Actinobacillus Infection" EXACT [] synonym: "Actinobacillus infectious disease" EXACT [] xref: EFO:1000793 xref: MESH:D000189 is_a: DOID:9008746 ! Pasteurellaceae Infections [Term] id: DOID:9007042 name: syndromic X-linked intellectual disability 33 synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33" EXACT [] synonym: "MRXS33" EXACT [] synonym: "syndromic X-linked intellectual developmental disorder 33" EXACT [] synonym: "Syndromic X-Linked Mental Retardation 33" EXACT [] synonym: "TAF1-RELATED CONDITION" BROAD [] synonym: "TAF1-RELATED SYNDROMIC INTELLECTUAL DISABILITY" EXACT [] xref: MIM:300966 is_a: DOID:0060309 ! syndromic X-linked intellectual disability [Term] id: DOID:9007043 name: Dermatoleukodystrophy alt_id: MIM:221790 xref: MESH:C538220 is_a: DOID:37 ! skin disease is_a: DOID:936 ! brain disease [Term] id: DOID:9007044 name: Florid Cemento-Osseous Dysplasia xref: MESH:C537063 xref: RDO:0002826 is_a: DOID:1019 ! osteomyelitis is_a: DOID:9008267 ! Fibrous Dysplasia of Bone [Term] id: DOID:9007046 name: Cranioacrofacial Syndrome alt_id: MIM:122850 xref: MESH:C565147 xref: MONDO:0007393 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007047 name: Infectious Bone Diseases def: "Bone diseases caused by pathogenic microorganisms." [MESH:D001850] synonym: "Infectious Bone Disease" EXACT [] xref: MESH:D001850 is_a: DOID:0080001 ! bone disease [Term] id: DOID:9007048 name: Schmid-Fraccaro Syndrome alt_id: MIM:115470 synonym: "Cat Eye syndrome" EXACT [] synonym: "CES" EXACT [] synonym: "Chromosome 22 partial tetrasomy" EXACT [] synonym: "INV DUP(22)(Q11)" EXACT [] xref: MESH:C535918 xref: NCI:C75477 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9007049 name: Bone Marrow Failure Syndrome 2 synonym: "BMFS2" EXACT [] synonym: "ERCC6L2-RELATED CONDITION" EXACT [] xref: MIM:615715 is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes [Term] id: DOID:9007050 name: Bluetongue def: "A reovirus infection, chiefly of sheep, characterized by a swollen blue tongue, catarrhal inflammation of upper respiratory and gastrointestinal tracts, and often by inflammation of sensitive laminae of the feet and coronet." [MESH:D001819] synonym: "Blue Tongue" EXACT [] xref: MESH:D001819 is_a: DOID:9006097 ! Sheep Diseases is_a: DOID:9006487 ! Reoviridae Infections is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:9007051 name: Autosomal Dominant Tubulointerstitial Kidney Disease 1 alt_id: MESH:C548033 alt_id: MESH:C563693 alt_id: MIM:162000 def: "This disease is an adult-onset, slowly progressive renal disease characterized by elevated serum uric acid (hyperuricemia) due to low fractional excretion of uric acid, defective urinary concentrating ability, 'bland' urinary sediment, and progression to end-stage renal failure. The onset of symptoms is usually in the third or fourth decade, although earlier and later onset have been reported." [] synonym: "ADMCKD2" EXACT [] synonym: "ADTKD1" EXACT [] synonym: "familial gout-kidney disease" EXACT [] synonym: "Familial Gouty Nephropathy" EXACT [] synonym: "FAMILIAL JUVENILE GOUT" NARROW [] synonym: "Familial Juvenile Hyperuricemic Nephropathy 1" EXACT [] synonym: "familial nephropathy with gout" EXACT [] synonym: "Glomerulocystic Kidney Disease with Hyperuricemia and Isosthenuria" EXACT [] synonym: "GOUTY NEPHROPATHY, FAMILIAL JUVENILE" EXACT [] synonym: "HNFJ1" EXACT [] synonym: "Hyperuricemic Nephropathy, Familial Juvenile 1" EXACT [] synonym: "Juvenile Gout" EXACT [] synonym: "MCKD2" EXACT [] synonym: "Medullary Cystic Kidney Disease 2" EXACT [] synonym: "medullary cystic kidney disease 2, autosomal dominant" EXACT [] synonym: "Medullary Cystic Kidney Disease Type II" EXACT [] synonym: "UMOD-associated kidney disease" EXACT [] synonym: "UMOD-RELATED CONDITION" EXACT [] synonym: "UMOD-related kidney disease" EXACT [] synonym: "uromodulin-associated kidney disease" EXACT [] synonym: "uromodulin storage disease" EXACT [] xref: EFO:0008618 xref: MESH:C537696 is_a: DOID:0060062 ! familial juvenile hyperuricemic nephropathy is_a: DOID:13189 ! gout is_a: DOID:2975 ! cystic kidney disease [Term] id: DOID:9007052 name: Mitochondrial Progressive Myopathy with Congenital Cataract, Hearing Loss, and Developmental Delay alt_id: MIM:613076 synonym: "combined mitochondrial complex deficiency" EXACT [] synonym: "mitochondrial progressive myopathy with congenital cataract and developmental delay" EXACT [] synonym: "MPMCD" EXACT [] synonym: "myopathy with cataract and combined respiratory chain deficiency" EXACT [] synonym: "progressive axial myopathy with cataracts" NARROW [] xref: MESH:C567769 is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:83 ! cataract is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9007054 name: Ventricular Septal Defect 2 synonym: "VSD2" EXACT [] xref: MIM:614431 xref: MONDO:0013748 is_a: DOID:1657 ! ventricular septal defect [Term] id: DOID:9007055 name: Central Areolar Choroidal Dystrophy 3 alt_id: MIM:613144 synonym: "CACD3" EXACT [] synonym: "central areolar choroidal dystrophy with or without drusen" EXACT [] xref: MESH:C567729 is_a: DOID:9822 ! partial central choroid dystrophy [Term] id: DOID:9007056 name: Congenital Disorder of Glycosylation Type IIy def: "An autosomal recessive multisystemic congenital disorder characterized by poor overall growth and global developmental delay with impaired intellectual development. Caused by compound heterozygous mutations in the GET4 gene on chromosome 7p22." [MIM:620200] synonym: "CDG2Y" EXACT [] synonym: "CDG IIy" EXACT [] synonym: "CDGIIY" EXACT [] xref: MIM:620200 is_a: DOID:0050571 ! congenital disorder of glycosylation type II created_by: mtutaj creation_date: 2023-01-20T08:17:04Z [Term] id: DOID:9007057 name: Subacute Necrotizing Encephalomyelopathy of Leigh, Adult alt_id: MIM:161700 synonym: "Leigh Syndrome, Adult" EXACT [] xref: MESH:C563530 is_a: DOID:3652 ! Leigh disease is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:9007058 name: Primitive Peripheral Neuroectodermal Tumors def: "A group of highly cellular primitive round cell neoplasms which occur extracranially in soft tissue and bone and are derived from embryonal neural crest cells. These tumors occur primarily in children and adolescents and share a number of characteristics with EWING SARCOMA." [MESH:D018241] synonym: "(pPNET) peripheral primitive neuroectodermal tumors" EXACT [] synonym: "Extracranial Primitive Neuroectodermal Tumor" EXACT [] synonym: "Peripheral Neuroectodermal Tumor" EXACT [] synonym: "peripheral neuroectodermal tumors" EXACT [] synonym: "Peripheral Neuroepithelioma" EXACT [] synonym: "Peripheral Neuroepitheliomas" EXACT [] synonym: "peripheral primitive neuroectodermal neoplasm" EXACT [] synonym: "primitive peripheral neuroectodermal tumor" EXACT [] xref: MESH:D018241 xref: MONDO:0018271 is_a: DOID:9002904 ! Primitive Neuroectodermal Tumors [Term] id: DOID:9007059 name: Thyroid Hormone Plasma Membrane Transport Defect alt_id: MIM:188560 synonym: "eumetabolic hyperthyroxinemia due to T4 plasma membrane transport" EXACT [] synonym: "thyroid hormone resistance due to T4 plasma membrane transport defect" EXACT [] xref: MESH:C536916 is_a: DOID:2855 ! hyperthyroxinemia [Term] id: DOID:9007061 name: Glycosylphosphatidylinositol Biosynthesis Defect 1 synonym: "GPIBD1" EXACT [] xref: MIM:610293 is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2023-05-30T15:48:05Z [Term] id: DOID:9007062 name: Rare Diseases def: "A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment." [MESH:D035583] synonym: "Orphan Disease" EXACT [] synonym: "Orphan Diseases" EXACT [] synonym: "Rare Disease" EXACT [] xref: MESH:D035583 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9007063 name: Myoclonic Epilepsy, Familial Infantile synonym: "EIM" EXACT [] synonym: "FIME" EXACT [] xref: MIM:605021 xref: RDO:0008964 is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:9007064 name: Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type alt_id: MIM:608728 synonym: "SEMDBCD" EXACT [] synonym: "SEMD, MATN3-related" EXACT [] synonym: "spondyloepimetaphyseal dysplasia, MATN3-related" EXACT [] synonym: "spondyloepimetaphyseal dysplasia, matrilin-3 related" EXACT [] xref: MESH:C563869 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia [Term] id: DOID:9007065 name: Myopia 11 alt_id: MIM:609994 synonym: "MYOPIA 11, AUTOSOMAL DOMINANT" EXACT [] synonym: "MYP11" EXACT [] xref: MESH:C566490 is_a: DOID:11830 ! myopia [Term] id: DOID:9007066 name: Fibrous Hamartoma of Infancy def: "This is a rare, benign soft tissue tumor that typically occurs within the first two years of life. It is a poorly circumscribed neoplasm arising from the soft tissues in infants. It is characterized by the presence of bland fibroblastic spindle cells, collagenous stroma formation, primitive mesenchymal round cells, and mature fat cells. These components combined form a distinct organoid pattern" [EFO:1000257, HP:0100882] synonym: "fibrous hamartoma" EXACT [] xref: EFO:1000257 xref: HP:0100882 is_a: DOID:9007253 ! Hamartoma created_by: slaulede creation_date: 2022-09-01T14:18:55Z [Term] id: DOID:9007067 name: Mesenteric Cyst def: "A rare intra-abdominal tumor in the MESENTERY. Mesenteric cysts are usually benign and can be very large fluid-filled (2000 mL) lesions." [MESH:D008639] synonym: "Mesenteric Cysts" EXACT [] xref: MESH:D008639 is_a: DOID:9001834 ! Peritoneal Neoplasms is_a: DOID:9007583 ! Cysts [Term] id: DOID:9007068 name: Familial Partial Lipodystrophy Type 8 def: "An autosomal dominant disorder characterized by abnormal distribution of subcutaneous adipose tissue. Caused by heterozygous mutation in the ADRA2A gene on chromosome 10q25." [MIM:620679] synonym: "FPLD8" EXACT [] synonym: "LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 8" EXACT [] xref: MIM:620679 is_a: DOID:0050440 ! familial partial lipodystrophy created_by: tutajm creation_date: 2024-01-19T10:52:09Z [Term] id: DOID:9007069 name: Hyperphosphatemic Familial Tumoral Calcinosis 2 synonym: "HFTC2" EXACT [] xref: EFO:0009383 xref: MIM:617993 is_a: DOID:0111063 ! hyperphosphatemic familial tumoral calcinosis created_by: mtutaj creation_date: 2019-05-02T09:08:48Z [Term] id: DOID:9007070 name: Silver-Russell Syndrome 1 def: "Clinically heterogeneous condition characterized by severe intrauterine growth retardation, poor postnatal growth, craniofacial features such as a triangular shaped face and a broad forehead, body asymmetry, and a variety of minor malformations. Hypomethylation at distal chromosome 11p15 (ICR1) represents a major cause of the disorder." [MIM:180860 "RGD"] synonym: "SRS1" EXACT [] xref: MIM:180860 is_a: DOID:14681 ! Silver-Russell syndrome created_by: mtutaj creation_date: 2020-06-15T13:32:37Z [Term] id: DOID:9007071 name: Hereditary Neoplastic Syndromes def: "The condition of a pattern of malignancies within a family, but not every individual's necessarily having the same neoplasm. Characteristically the tumor tends to occur at an earlier than average age, individuals may have more than one primary tumor, the tumors may be multicentric, usually more than 25 percent of the individuals in direct lineal descent from the proband are affected, and the cancer predisposition in these families behaves as an autosomal dominant trait with about 60 percent penetrance." [MESH:D009386] synonym: "hereditary cancer" EXACT [] synonym: "HEREDITARY CANCER-PREDISPOSING SYNDROME" EXACT [] synonym: "Hereditary Cancer Syndrome" EXACT [] synonym: "hereditary cancer syndromes" EXACT [] synonym: "hereditary neoplastic syndrome" EXACT [] xref: MESH:D009386 is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:225 ! syndrome is_a: DOID:630 ! genetic disease [Term] id: DOID:9007072 name: Social Communication Disorder def: "Persistent difficulties in the social uses of verbal and nonverbal communications. (DSM-V)" [MESH:D000067404] synonym: "Pragmatic Communication Disorder" EXACT [] synonym: "Pragmatic Communication Disorders" EXACT [] synonym: "Social Communication Disorders" EXACT [] xref: MESH:D000067404 xref: RDO:0016027 is_a: DOID:2033 ! communication disorder [Term] id: DOID:9007073 name: Cough def: "A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation. It is a protective response that serves to clear the trachea, bronchi, and/or lungs of irritants and secretions, or to prevent aspiration of foreign materials into the lungs." [MESH:D003371] synonym: "Coughs" EXACT [] xref: MESH:D003371 is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9007074 name: Camptodactyly-Ichthyosis Syndrome alt_id: MIM:211965 xref: MESH:C537976 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9007075 name: Congenital Prothrombin Deficiency def: "n extremely rare autosomal recessive bleeding disorder characterized by low levels of circulating prothrombin. There are 2 main types: type I deficiency, known as true prothrombin deficiency or 'hypoprothrombinemia,' is defined as plasma levels of prothrombin being less than 10% of normal with a concomitant decrease in activity. Type II deficiency, known as 'dysprothrombinemia,' is characterized by normal or low-normal synthesis of a dysfunctional protein." [] synonym: "DYSPROTHROMBINEMIA" RELATED [] synonym: "HEREDITARY FACTOR II DEFICIENCY DISEASE" EXACT [] synonym: "HYPOPROTHROMBINEMIA" EXACT [] synonym: "PROLONGED PROTHROMBIN TIME" RELATED [] synonym: "PROTHROMBIN DEFICIENCY, CONGENITAL" EXACT [] xref: MIM:613679 is_a: DOID:2235 ! prothrombin deficiency [Term] id: DOID:9007076 name: Alopecia Congenita Keratosis Palmoplantaris synonym: "Alopecia congenita with hyperkeratosis of the palms and soles" EXACT [] synonym: "Alopecia Congenita With Keratosis Palmoplantaris" EXACT [] xref: MESH:C537050 is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:987 ! alopecia [Term] id: DOID:9007077 name: Actin-Accumulation Myopathy synonym: "Actin Filament Aggregate Myopathy" EXACT [] synonym: "Actin Myopathy" EXACT [] synonym: "Congenital Myopathy with Excess of Thin Filaments" EXACT [] xref: MESH:C579880 xref: RDO:0015860 is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:9007078 name: Hip Dislocation def: "Displacement of the femur bone from its normal position at the HIP JOINT." [MESH:D006617] synonym: "Hip Dislocations" EXACT [] synonym: "Hip Displacement" EXACT [] synonym: "Hip Displacements" EXACT [] synonym: "Hip Dysplasia" EXACT [] xref: MESH:D006617 xref: RDO:0005805 is_a: DOID:9003279 ! Joint Dislocations is_a: DOID:9008860 ! Hip Injuries [Term] id: DOID:9007079 name: IMMUNOGLOBULIN KAPPA LIGHT CHAIN DEFICIENCY synonym: "IGKCD" EXACT [] synonym: "KAPPA CHAIN DEFICIENCY" EXACT [] xref: MESH:C564131 xref: MIM:614102 xref: RDO:0013191 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9007080 name: Prostate Cancer, Hereditary, 6 alt_id: MIM:609558 synonym: "HPC6" EXACT [] xref: MESH:C563699 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9007081 name: Cluster Headache def: "A primary headache disorder that is characterized by severe, strictly unilateral PAIN which is orbital, supraorbital, temporal or in any combination of these sites, lasting 15-180 min. occurring 1 to 8 times a day. The attacks are associated with one or more of the following, all of which are ipsilateral: conjunctival injection, lacrimation, nasal congestion, rhinorrhea, facial SWEATING, eyelid EDEMA, and miosis. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [MESH:D003027] synonym: "Atypical Cluster Headache" EXACT [] synonym: "Atypical Cluster Headaches" EXACT [] synonym: "Chronic Cluster Headache" EXACT [] synonym: "Chronic Cluster Headaches" EXACT [] synonym: "Ciliary Neuralgia" EXACT [] synonym: "Ciliary Neuralgias" EXACT [] synonym: "Cluster Headaches" EXACT [] synonym: "Cluster Headache Syndrome" EXACT [] synonym: "Cluster Headache Syndromes" EXACT [] synonym: "Episodic Cluster Headache" EXACT [] synonym: "Episodic Cluster Headaches" EXACT [] synonym: "Histamine Cephalgia" EXACT [] synonym: "Histamine Cephalgias" EXACT [] synonym: "Horton's Syndrome" EXACT [] synonym: "Hortons Syndrome" EXACT [] synonym: "Horton Syndrome" EXACT [] synonym: "Neuralgic Migraine" EXACT [] synonym: "Neuralgic Migraines" EXACT [] xref: MESH:D003027 xref: NCI:C17077 xref: ORDO:1002 is_a: DOID:9006338 ! Trigeminal Autonomic Cephalalgias [Term] id: DOID:9007082 name: Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma synonym: "KLICK" EXACT [] synonym: "KLICK Syndrome" EXACT [] xref: MESH:C566600 xref: MIM:601952 xref: MONDO:0011169 is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9007083 name: Edentulous Mouth def: "Total lack of teeth through disease or extraction." [MESH:D009066] synonym: "edentulous mouths" EXACT [] synonym: "toothless mouth" EXACT [] xref: MESH:D009066 is_a: DOID:1091 ! tooth disease is_a: DOID:403 ! mouth disease [Term] id: DOID:9007084 name: Ocular Coloboma and Ichthyosis, Brain Malformations, and Endocrine Abnormalities alt_id: RDO:0015432 xref: MESH:C567328 is_a: DOID:5212 ! congenital disorder of glycosylation [Term] id: DOID:9007085 name: Monosomy 7 Myelodysplasia and Leukemia Syndrome 1 alt_id: MIM:252270 synonym: "chromosome 7q deletion" EXACT [] synonym: "M7MLS1" EXACT [] synonym: "MLSM7" EXACT [] synonym: "monosomy 7 of bone marrow" EXACT [] synonym: "myelodysplasia and leukemia syndrome with monosomy 7" EXACT [] xref: MESH:C565370 is_a: DOID:9009254 ! Monosomy 7 Myelodysplasia and Leukemia Syndrome [Term] id: DOID:9007086 name: Myoclonic Nystagmus alt_id: MIM:310800 xref: MESH:C564088 is_a: DOID:9007722 ! Myoclonus is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:9007087 name: Moyamoya Disease 6 with Achalasia synonym: "Moyamoya disease 6 with or without achalasia" EXACT [] synonym: "MYMY6" EXACT [] xref: MIM:615750 xref: MONDO:0014331 is_a: DOID:13099 ! Moyamoya disease is_a: DOID:9164 ! achalasia [Term] id: DOID:9007088 name: Chromosome 3, Trisomy 3q13 2 q25 synonym: "Duplication 3q13.2 q25" EXACT [] synonym: "Trisomy 3q13 2 q25" EXACT [] xref: MESH:C537634 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007089 name: Lethal Bone Dysplasia, Holmgren Type alt_id: MIM:211120 xref: MESH:C565896 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9007090 name: Experimental Seizures def: "Seizures that are induced in experimental animals, initiated by application of an electroconvulsive shock, or by the injection of a drug, such as kainic acid, pilocarpine, or pentetrazole." [] synonym: "experimental epilepsy" EXACT [] is_a: DOID:1826 ! epilepsy is_a: DOID:9006205 ! Animal Disease Models created_by: rgd creation_date: 2015-06-25T00:00:00Z [Term] id: DOID:9007091 name: Lymphangiomyoma def: "A tumorlike condition characterized by SMOOTH MUSCLE and ENDOTHELIUM proliferation of LYMPHATIC VESSELS and LYMPH NODES in the MEDIASTINUM and retroperitoneum, also in the lung. It may be manifested by chylous PLEURAL EFFUSION and ASCITES." [MESH:D008203] synonym: "Lymphangioleiomyoma" EXACT [] synonym: "Lymphangioleiomyomas" EXACT [] synonym: "Lymphangiomyomas" EXACT [] xref: EFO:1001027 xref: MESH:D008203 xref: RDO:0006039 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:9003008 ! Lymphatic Vessel Tumors [Term] id: DOID:9007092 name: Preeyasombat Varavithya Syndrome synonym: "Fanconi syndrome caused by degraded tetracycline" EXACT [] xref: MESH:C535269 xref: RDO:0000247 is_a: DOID:1062 ! Fanconi syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9007093 name: Combined Defect of Growth Factors alt_id: MIM:233805 synonym: "Insulin, Insulin-Like Growth Factor I, and Epidermal Growth Factor Deficiency" EXACT [] synonym: "Werner-Like Syndrome due to Combined Growth Factor Deficiency" EXACT [] xref: MESH:C565529 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9007094 name: Hypercalcemia, Infantile, 1 alt_id: MIM:143880 synonym: "CYP24A1-RELATED CONDITION" EXACT [] synonym: "HCINF1" EXACT [] synonym: "Idiopathic Hypercalcemia of Infancy" EXACT [] xref: MESH:C562581 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9005216 ! Infantile Hypercalcemia [Term] id: DOID:9007095 name: Pneumoperitoneum def: "A condition with trapped gas or air in the PERITONEAL CAVITY, usually secondary to perforation of the internal organs such as the LUNG and the GASTROINTESTINAL TRACT, or to recent surgery. Pneumoperitoneum may be purposely introduced to aid radiological examination." [MESH:D011027] xref: MESH:D011027 xref: RDO:0006383 is_a: DOID:9006175 ! Peritoneal Diseases [Term] id: DOID:9007096 name: Stroke alt_id: MIM:606799 def: "A group of pathological conditions characterized by sudden, non-convulsive loss of neurological function due to BRAIN ISCHEMIA or INTRACRANIAL HEMORRHAGES. Stroke is classified by the type of tissue NECROSIS, such as the anatomic location, vasculature involved, etiology, age of the affected individual, and hemorrhagic vs. non-hemorrhagic nature. (From Adams et al., Principles of Neurology, 6th ed, pp777-810)" [MESH:D020521] synonym: "Acute Cerebrovascular Accident" EXACT [] synonym: "Acute Cerebrovascular Accidents" EXACT [] synonym: "Acute Stroke" EXACT [] synonym: "Acute Strokes" EXACT [] synonym: "Apoplexy" EXACT [] synonym: "Brain Vascular Accident" EXACT [] synonym: "Brain Vascular Accidents" EXACT [] synonym: "Cerebral Stroke" EXACT [] synonym: "Cerebral Strokes" EXACT [] synonym: "cerebrovascular accident" EXACT [] synonym: "Cerebrovascular Accidents" EXACT [] synonym: "Cerebrovascular Apoplexy" EXACT [] synonym: "Cerebrovascular Stroke" EXACT [] synonym: "Cerebrovascular Strokes" EXACT [] synonym: "CVA" EXACT [] synonym: "post-operative stroke" NARROW [] synonym: "small vessel stroke" NARROW [] synonym: "STRK1" EXACT [] synonym: "strokes" EXACT [] synonym: "stroke, susceptibility to, 1" RELATED [] xref: EFO:0000712 xref: EFO:0009956 xref: EFO:1001504 xref: MESH:D020521 is_a: DOID:6713 ! cerebrovascular disease [Term] id: DOID:9007097 name: Microcephaly with Simplified Gyral Pattern alt_id: MIM:603802 synonym: "SIMPLIFIED GYRAL PATTERN" NARROW [] xref: MESH:C566332 is_a: DOID:10907 ! microcephaly [Term] id: DOID:9007098 name: Pulmonary Atresia def: "A congenital heart defect characterized by the narrowing or complete absence of the opening between the RIGHT VENTRICLE and the PULMONARY ARTERY. Lacking a normal PULMONARY VALVE, unoxygenated blood in the right ventricle can not be effectively pumped into the lung for oxygenation. Clinical features include rapid breathing, CYANOSIS, right ventricle atrophy, and abnormal heart sounds (HEART MURMURS)." [MESH:D018633] synonym: "PULMONARY ARTERY ATRESIA" EXACT [] synonym: "Pulmonary Atresias" EXACT [] synonym: "Pulmonary Valve Atresia" EXACT [] synonym: "Pulmonary Valve Atresias" EXACT [] xref: MESH:D018633 is_a: DOID:4079 ! heart valve disease is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:9007099 name: Aplasia Cutis Congenita of Limbs Recessive alt_id: MIM:600360 synonym: "Congenital absence of skin on the upper or lower limbs" EXACT [] synonym: "Recessive aplasia cutis congenita of the limbs" EXACT [] xref: MESH:C536840 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9574 ! choanal atresia [Term] id: DOID:9007100 name: Ulnar Nerve Compression Syndromes def: "Ulnar neuropathies caused by mechanical compression of the nerve at any location from its origin at the BRACHIAL PLEXUS to its terminations in the hand. Common sites of compression include the retroepicondylar groove, cubital tunnel at the elbow (CUBITAL TUNNEL SYNDROME), and Guyon's canal at the wrist. Clinical features depend on the site of injury, but may include weakness or paralysis of wrist flexion, finger flexion, and ulnar innervated intrinsic hand muscles, and impaired sensation over the ulnar aspect of the hand, fifth finger, and ulnar half of the ring finger. (Joynt, Clinical Neurology, 1995, Ch51, p43)" [MESH:D017769] synonym: "Guyon Syndrome" EXACT [] synonym: "Guyon Syndromes" EXACT [] synonym: "Ulnar Nerve Compression" EXACT [] synonym: "Ulnar Nerve Compressions" EXACT [] synonym: "Ulnar Nerve Entrapment" EXACT [] synonym: "Ulnar Nerve Entrapment at the Wrist" EXACT [] synonym: "Ulnar Nerve Entrapments" EXACT [] synonym: "Ulnar Nerve Entrapment Syndrome" EXACT [] synonym: "Ulnar Nerve External Compression Syndrome" EXACT [] xref: MESH:D017769 is_a: DOID:4613 ! ulnar neuropathy is_a: DOID:573 ! nerve compression syndrome is_a: DOID:9004498 ! Cumulative Trauma Disorders [Term] id: DOID:9007101 name: Isolated Microphthalmia with Cataract 2 synonym: "MCOPCT2" EXACT [] synonym: "microphthalmia and cataract 2" EXACT [] synonym: "microphthalmia, cataract, and nystagmus" EXACT [] xref: MESH:C565876 is_a: DOID:0080637 ! isolated microphthalmia is_a: DOID:83 ! cataract is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:9007102 name: Myocardial Ischemia def: "A disorder of cardiac function caused by insufficient blood flow to the muscle tissue of the heart. The decreased blood flow may be due to narrowing of the coronary arteries (CORONARY ARTERY DISEASE), to obstruction by a thrombus (CORONARY THROMBOSIS), or less commonly, to diffuse narrowing of arterioles and other small vessels within the heart. Severe interruption of the blood supply to the myocardial tissue may result in necrosis of cardiac muscle (MYOCARDIAL INFARCTION)." [MESH:D017202] synonym: "Ischemic Heart Disease" EXACT [] synonym: "Ischemic Heart Diseases" EXACT [] synonym: "Ischemic heart disease, susceptibility to" RELATED [] synonym: "Myocardial Ischemias" EXACT [] synonym: "SUPEROXIDE DISMUTASE, ELEVATED EXTRACELLULAR" RELATED [] xref: EFO:1001375 xref: MESH:D017202 is_a: DOID:114 ! heart disease is_a: DOID:178 ! vascular disease is_a: DOID:326 ! ischemia [Term] id: DOID:9007103 name: Osteolysis Syndrome, Recessive alt_id: MIM:259610 synonym: "distal osteolysis with short stature, mental retardation, and characteristic facial appearance" EXACT [] xref: MESH:C536052 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9006081 ! Osteolysis is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007104 name: Oocyte/Zygote/Embryo Maturation Arrest 14 def: "A female infertility due to oocyte maturation arrest, fertilization failure, and/or early embryonic arrest. Caused by homozygous or compound heterozygous mutation in the CDC20 gene on chromosome 1p34." [MIM:620276] synonym: "Oocyte Maturation Defect 14" EXACT [] synonym: "OOMD14" EXACT [] synonym: "OZEMA14" EXACT [] xref: MIM:620276 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2023-03-08T13:02:54Z [Term] id: DOID:9007105 name: Hyperemesis Gravidarum alt_id: MIM:620730 def: "Intractable VOMITING that develops in early PREGNANCY and persists. This can lead to DEHYDRATION and WEIGHT LOSS." [MESH:D006939] synonym: "Hyperemesis gravidarum, susceptibility to" RELATED [] synonym: "Pernicious Vomiting of Pregnancy" EXACT [] synonym: "Pregnancy Pernicious Vomiting" EXACT [] xref: EFO:1000971 xref: MESH:D006939 is_a: DOID:9004688 ! Morning Sickness [Term] id: DOID:9007106 name: Hereditary Neurocutaneous Angioma alt_id: MIM:106070 xref: MESH:C536364 is_a: DOID:255 ! hemangioma is_a: DOID:9001734 ! Neurocutaneous Syndromes [Term] id: DOID:9007107 name: Cataract, Age-Related Nuclear alt_id: MIM:601371 alt_id: RDO:0012620 synonym: "Nuclear Sclerosis of the Lens" EXACT [] xref: MESH:C563333 is_a: DOID:83 ! cataract [Term] id: DOID:9007108 name: Congenital Agenesis of the Tricuspid Valve xref: MESH:C531836 is_a: DOID:0080169 ! tricuspid atresia [Term] id: DOID:9007109 name: Rhegmatogenous Retinal Detachment, Autosomal Dominant def: "This is a hereditary autosomal dominant disorder characterized by retinal detachment due to retinal tearing at the time of posterior vitreous detachment and PATHOLOGICAL MYOPIA" [MESH:C563710] synonym: "DRRD" EXACT [] synonym: "rhegmatogenous retinal detachment" BROAD [] xref: EFO:0005240 xref: MESH:C563710 is_a: DOID:5327 ! retinal detachment is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9007110 name: Subacute Combined Degeneration def: "A neuropathy due to VITAMIN B 12 DEFICIENCY or to excessive NITROUS OXIDE inhalation. It is associated with overproduction of the myelinolytic TUMOR NECROSIS FACTOR-ALPHA." [MESH:D052879] synonym: "Subacute Combined Neuropathy Degeneration" EXACT [] xref: EFO:1001428 xref: MESH:D052879 is_a: DOID:0050731 ! vitamin B12 deficiency is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:319 ! spinal cord disease is_a: DOID:3213 ! demyelinating disease is_a: DOID:9002955 ! Nerve Degeneration [Term] id: DOID:9007111 name: Atypical Squamous Cells of the Cervix def: "Morphological abnormalities of the cervical EPITHELIUM, usually revealed in PAP SMEAR, which do not meet the criteria for squamous CERVICAL INTRAEPITHELIAL NEOPLASIA or SQUAMOUS CELL CARCINOMAS of the CERVIX . It may be a sign of infection with certain types of human papillomavirus (HPV).or sign of a benign (not cancer) growth, such as a cyst or polyp or, in menopausal women, of low hormone levels. More testing, such as HPV test, may be needed." [MESH:D065309] synonym: "ASC Atypical Squamous Cells" EXACT [] synonym: "ASC H Atypical Squamous Cells, Cannot Rule Out High Grade Squamous Intra epithelial Lesion" EXACT [] synonym: "ASC-US" EXACT [] synonym: "ASCUS" EXACT [] synonym: "Atypical Cervical Squamous Cells" EXACT [] synonym: "Atypical Squamous Cell" EXACT [] synonym: "Atypical Squamous Cells" EXACT [] synonym: "Atypical Squamous Cells, Cannot Rule Out High Grade Squamous Intra Epithelial Lesion" EXACT [] synonym: "Atypical Squamous Cells of Undetermined Significance" EXACT [] xref: MESH:D065309 xref: RDO:0015970 is_a: DOID:9002760 ! Morphological and Microscopic Findings is_a: DOID:9006096 ! Uterine Cervical Dysplasia [Term] id: DOID:9007113 name: Teebi Naguib Al Awadi syndrome synonym: "Al Awadi Teebi Farag syndrome" EXACT [] synonym: "Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence" EXACT [] xref: MESH:C536949 xref: RDO:0002678 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9007114 name: Mobility Limitation def: "Difficulty in walking from place to place." [MESH:D051346] synonym: "Ambulation Difficulties" EXACT [] synonym: "Ambulation Difficulty" EXACT [] synonym: "Ambulatory Difficulties" EXACT [] synonym: "Ambulatory Difficulty" EXACT [] synonym: "Difficulty Walking" EXACT [] synonym: "Mobility Limitations" EXACT [] xref: MESH:D051346 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9007115 name: Adult Acne alt_id: MIM:604324 xref: MESH:C565791 is_a: DOID:6543 ! acne [Term] id: DOID:9007116 name: Snake Bites def: "Bites by snakes. Bite by a venomous snake is characterized by stinging pain at the wound puncture. The venom injected at the site of the bite is capable of producing a deleterious effect on the blood or on the nervous system. (Webster's 3d ed; from Dorland, 27th ed, at snake, venomous)" [MESH:D012909] synonym: "Snake Bite" EXACT [] synonym: "Snakebite" EXACT [] synonym: "Snakebites" EXACT [] synonym: "Snake Envenomation" EXACT [] synonym: "Snake Envenomations" EXACT [] xref: MESH:D012909 is_a: DOID:9002550 ! Bites and Stings [Term] id: DOID:9007118 name: Familial Hypercholanemia synonym: "FHCA" EXACT [] synonym: "hypercholanemia" EXACT [] xref: MESH:C564336 xref: MIM:PS607748 is_a: DOID:1701 ! steroid inherited metabolic disorder [Term] id: DOID:9007119 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 6 def: "Highly variable symptoms mainly affecting the hematopoietic or pulmonary systems. Caused by heterozygous mutation in the RPA1 gene on chromosome 17p13." [MIM:619767] synonym: "PFBMFT6" EXACT [] synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 6" EXACT [] synonym: "RPA1-RELATED SHORT TELOMERE SYNDROME" EXACT [] xref: MIM:619767 is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related created_by: mtutaj creation_date: 2022-03-07T11:38:19Z [Term] id: DOID:9007120 name: Meckel Syndrome 11 synonym: "Meckel Syndrome, Type 11" EXACT [] synonym: "MKS11" EXACT [] xref: MIM:615397 is_a: DOID:0050778 ! Meckel syndrome [Term] id: DOID:9007121 name: Baker-Winegrad Disease synonym: "Autosomal recessive fructose 1, 6-diphosphatase deficiency" EXACT [] xref: MESH:C537900 xref: RDO:0003811 is_a: DOID:5204 ! fructose-1,6-bisphosphatase deficiency [Term] id: DOID:9007122 name: Acitretin Embryopathy synonym: "Acitretine embryofetopathy" EXACT [] xref: MESH:C538169 xref: RDO:0004108 is_a: DOID:9007828 ! Abnormalities, Drug-Induced [Term] id: DOID:9007123 name: Radiation Induced Meningioma alt_id: MIM:606190 synonym: "MNRI" EXACT [] xref: MESH:C536266 is_a: DOID:3565 ! meningioma is_a: DOID:9000277 ! Radiation-Induced Neoplasms [Term] id: DOID:9007124 name: Chromosome 1, Uniparental Disomy 1q12 q21 synonym: "Mosaic trisomy 1q12 q21" EXACT [] synonym: "Uniparental disomy 1q12 q21" EXACT [] xref: MESH:C538085 is_a: DOID:9003960 ! Trisomy is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9007126 name: Coffin Syndrome 1 synonym: "Dwarfism, lean spastic type" EXACT [] synonym: "Lean spastic dwarfism" EXACT [] xref: MESH:C536435 is_a: DOID:0060249 ! scoliosis is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:4667 ! kyphosis is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007128 name: Progressive External Ophthalmoplegia with Hypogonadism xref: MESH:C563576 xref: RDO:0012799 is_a: DOID:1924 ! hypogonadism is_a: DOID:539 ! ophthalmoplegia is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9007129 name: Autoimmune Oophoritis xref: MESH:C538274 is_a: DOID:10974 ! oophoritis is_a: DOID:14040 ! autoimmune polyendocrine syndrome [Term] id: DOID:9007130 name: Chromosome 4, Monosomy 4q32 synonym: "Deletion 4q32" EXACT [] synonym: "Monosomy 4q32" EXACT [] xref: MESH:C537640 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9007131 name: Polydactyly-Macrocephaly Syndrome def: "A disease characterized by postaxial polydactyly and progressive macrocephaly. Caused by heterozygous mutation in the MAX gene on chromosome 14q23." [MIM:620712] synonym: "PDMCS" EXACT [] xref: MIM:620712 is_a: DOID:9003071 ! Postaxial Polydactyly is_a: DOID:9003816 ! Macrocephaly created_by: tutajm creation_date: 2024-02-12T10:26:55Z [Term] id: DOID:9007132 name: Umbilical Cord Ulceration and Intestinal Atresia synonym: "Umbilical cord ulcer with intestinal atresia" EXACT [] synonym: "Umbilical ulceration and intestinal atresia" EXACT [] xref: MESH:C536938 is_a: DOID:10486 ! intestinal atresia is_a: DOID:9005175 ! Ulcer [Term] id: DOID:9007134 name: Neoplastic Pregnancy Complications def: "The co-occurrence of pregnancy and NEOPLASMS. The neoplastic disease may precede or follow FERTILIZATION." [MESH:D011252] synonym: "Neoplastic Pregnancy Complication" EXACT [] synonym: "Pregnancies, Neoplastic Complications" EXACT [] xref: MESH:D011252 is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9007135 name: Eosinophilic Fasciitis alt_id: MIM:226350 xref: MESH:C562487 xref: NCI:C112116 xref: ORDO:3165 is_a: DOID:9001371 ! Eosinophilia is_a: DOID:9598 ! fasciitis [Term] id: DOID:9007136 name: Atrioventricular Septal Defect 3 synonym: "AVSD3" EXACT [] is_a: DOID:0050651 ! atrioventricular septal defect [Term] id: DOID:9007137 name: Hepatic Lipase Deficiency synonym: "HL deficiency" EXACT [] synonym: "hyperlipidemia due to hepatic triacylglycerol lipase deficiency" EXACT [] synonym: "hyperlipidemia due to hepatic triglyceride lipase deficiency" EXACT [] synonym: "hyperlipidemia due to HL deficiency" EXACT [] synonym: "hyperlipidemia due to HTGL deficiency" EXACT [] synonym: "LIPC deficiency" EXACT [] xref: GARD:12864 xref: MIM:614025 xref: MONDO:0013533 xref: ORDO:140905 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:9007138 name: Cd4+ Lymphocyte Deficiency xref: MESH:C566079 xref: RDO:0014542 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9007139 name: Hyperphenylalaninemia, Non-Pku Mild xref: MESH:C567494 is_a: DOID:9281 ! phenylketonuria [Term] id: DOID:9007140 name: Spinal Muscular Atrophy with Congenital Bone Fractures 1 alt_id: MIM:616866 synonym: "SMABF1" EXACT [] synonym: "Spinal Muscular Atrophy Type I, with Congenital Bone Fractures" EXACT [] synonym: "TRIP4-RELATED CONDITION" BROAD [] xref: MESH:C564805 is_a: DOID:9004171 ! Spinal Muscular Atrophy with Congenital Bone Fractures [Term] id: DOID:9007141 name: Normokalemic Periodic Paralysis, Potassium-Sensitive alt_id: MIM:170600 xref: MESH:C566809 is_a: DOID:1029 ! familial periodic paralysis [Term] id: DOID:9007142 name: Peroxisome Biogenesis Disorder, Complementation Group G xref: MESH:C566406 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9007144 name: Moebius Axonal Neuropathy Hypogonadism alt_id: RDO:0001115 xref: MESH:C535806 is_a: DOID:13501 ! Moebius syndrome is_a: DOID:1924 ! hypogonadism [Term] id: DOID:9007145 name: Sarcoma 180 def: "An experimental sarcoma of mice." [MESH:D012510] synonym: "Crocker Sarcoma 180" EXACT [] xref: MESH:D012510 is_a: DOID:9005474 ! Experimental Sarcoma [Term] id: DOID:9007146 name: Hypouricemia, Hypercalcinuria, and Decreased Bone Density alt_id: MIM:242050 xref: MESH:C565475 is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:447 ! renal tubular transport disease is_a: DOID:9002278 ! Metabolic Bone Diseases [Term] id: DOID:9007147 name: Glaucoma 3, Primary Infantile, B alt_id: MIM:600975 synonym: "Glaucoma, Primary Congenital, Type B" EXACT [] synonym: "GLC3B" EXACT [] synonym: "GLC3, TYPE B" EXACT [] synonym: "Primary congenital glaucoma type 3B" EXACT [] xref: MESH:C536824 xref: RDO:0002517 is_a: DOID:0050593 ! primary congenital glaucoma is_a: DOID:1686 ! glaucoma [Term] id: DOID:9007148 name: Blepharophimosis Syndrome Type 2 synonym: "blepharophimosis, ptosis, and epicanthus inversus type 2" EXACT [] synonym: "blepharophimosis, ptosis, and epicanthus inversus type II" EXACT [] synonym: "blepharophimosis, ptosis, and epicanthus inversus without premature ovarian failure" EXACT [] synonym: "BPES, type II" EXACT [] synonym: "BPES without ovarian failure" EXACT [] xref: MESH:C536234 is_a: DOID:14778 ! blepharophimosis, ptosis, and epicanthus inversus syndrome [Term] id: DOID:9007149 name: Uniparental Disomy of 11 synonym: "Paternal uniparental disomy for chromosome 11(type)" EXACT [] synonym: "Uniparental disomy of chromosome 11" EXACT [] xref: MESH:C536468 is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9007150 name: Urogenital Neoplasms def: "Tumors or cancer of the UROGENITAL SYSTEM in either the male or the female." [MESH:D014565] synonym: "Genito urinary Cancer" EXACT [] synonym: "Genitourinary Cancer" EXACT [] synonym: "Genito-urinary Cancers" EXACT [] synonym: "Genitourinary Cancers" EXACT [] synonym: "Genito-urinary Neoplasm" EXACT [] synonym: "Genitourinary Neoplasm" EXACT [] synonym: "Genito-urinary Neoplasms" EXACT [] synonym: "Genitourinary Neoplasms" EXACT [] synonym: "Urogenital Cancer" EXACT [] synonym: "Urogenital Cancers" EXACT [] synonym: "Urogenital Neoplasm" EXACT [] xref: EFO:0003863 xref: MESH:D014565 is_a: DOID:9005424 ! Neoplasms by Site is_a: DOID:9009146 ! Urogenital Diseases [Term] id: DOID:9007151 name: Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis synonym: "CRMO2" EXACT [] synonym: "deficiency of interleukin(IL)-1 receptor antagonist" EXACT [] synonym: "Deficiency of Interleukin-1 Receptor Antagonist" EXACT [] synonym: "Deficiency of interleukin-1 receptor antagonist (DIRA)" EXACT [] synonym: "DIRA" EXACT [] synonym: "interleukin 1 receptor antagonist deficiency" EXACT [] synonym: "OMPP" EXACT [] synonym: "sterile multifocal osteomyelitis, with periostitis and pustulosis" EXACT [] xref: GARD:10516 xref: MESH:C557815 xref: MIM:612852 xref: MONDO:0013021 xref: ORDO:210115 is_a: DOID:0060645 ! chronic recurrent multifocal osteomyelitis is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases is_a: DOID:9957 ! periostitis [Term] id: DOID:9007152 name: Talipes def: "Deformity in which the foot is misaligned with respect to the TALUS in the ANKLE JOINT. While mostly congenital, as in CLUBFOOT, acquired deformities are included. Acquired talipedes are often associated with other foot deformities such as SYNDACTYLY and POLYDACTYLY." [MESH:D000070558] synonym: "Talipedes" EXACT [] synonym: "Talipes Calcaneovarus" EXACT [] synonym: "Talipes Calcaneus" EXACT [] synonym: "Talipes Varus" EXACT [] xref: MESH:D000070558 is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9000083 ! Foot Deformities, Acquired [Term] id: DOID:9007153 name: Pediatric Crohn's Disease synonym: "pediatric onset Crohn's disease" EXACT [] xref: MESH:C536215 is_a: DOID:8778 ! Crohn's disease [Term] id: DOID:9007154 name: Choanal Atresia and Lymphedema xref: MIM:613611 is_a: DOID:4977 ! lymphedema is_a: DOID:9574 ! choanal atresia [Term] id: DOID:9007155 name: Oocyte/Zygote/Embryo Maturation Arrest 8 synonym: "Oocyte Maturation Defect 8" EXACT [] synonym: "OOMD8" EXACT [] synonym: "OZEMA8" EXACT [] xref: MIM:619009 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2020-09-05T07:48:37Z [Term] id: DOID:9007156 name: Enteritis def: "Inflammation of any segment of the SMALL INTESTINE." [MESH:D004751] synonym: "Enteritides" EXACT [] xref: MESH:D004751 xref: RDO:0001336 is_a: DOID:2326 ! gastroenteritis is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9007157 name: Hydrocephalus, Autosomal Dominant alt_id: MIM:123155 alt_id: RDO:0013084 synonym: "HDCPH1" EXACT [] xref: MESH:C563973 is_a: DOID:10908 ! hydrocephalus [Term] id: DOID:9007158 name: Prata Libéral Gonçalves Syndrome synonym: "Brachydactyly, scoliosis, spina bifida occulta, and carpal synostosis" EXACT [] synonym: "Prata Liberal Goncalves syndrome" EXACT [] xref: MESH:C538277 is_a: DOID:0050581 ! brachydactyly is_a: DOID:0060249 ! scoliosis is_a: DOID:0080073 ! spina bifida occulta is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome [Term] id: DOID:9007159 name: Nervous System Lead Poisoning def: "Injury to the nervous system secondary to exposure to lead compounds. Two distinct clinical patterns occur in children (LEAD POISONING, NERVOUS SYSTEM, CHILDHOOD) and adults (LEAD POISONING, NERVOUS SYSTEM, ADULT). In children, lead poisoning typically produces an encephalopathy. In adults, exposure to toxic levels of lead is associated with a peripheral neuropathy." [MESH:D020263] synonym: "Lead-Induced Nervous System Diseases" EXACT [] synonym: "Lead Neurotoxicity Syndrome" EXACT [] synonym: "Lead Neurotoxicity Syndromes" EXACT [] synonym: "Nervous System Plumbism" EXACT [] synonym: "Neurologic Lead Poisoning" EXACT [] synonym: "Neurologic Plumbism" EXACT [] xref: MESH:D020263 is_a: DOID:9001363 ! Heavy Metal Poisoning, Nervous System is_a: DOID:9008914 ! Lead Poisoning [Term] id: DOID:9007160 name: Idiopathic Basal Ganglia Calcification 8 synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 8, AUTOSOMAL RECESSIVE" EXACT [] synonym: "IBGC8" EXACT [] synonym: "JAM2-RELATED CONDITION" EXACT [] xref: MIM:618824 is_a: DOID:0060230 ! basal ganglia calcification created_by: mtutaj creation_date: 2020-03-30T10:31:46Z [Term] id: DOID:9007161 name: Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type alt_id: RDO:9001141 synonym: "progressive spondyloepimetaphyseal dysplasia, with short stature, facial dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis" EXACT [] synonym: "SEMDFA" EXACT [] xref: MIM:616723 is_a: DOID:0080027 ! spondyloepimetaphyseal dysplasia is_a: DOID:1059 ! intellectual disability is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: rgd creation_date: 2016-01-15T00:00:00Z [Term] id: DOID:9007162 name: Chromosome 8 Ring synonym: "chromosome 8-derived supernumerary ring/marker" EXACT [] xref: MESH:C537824 xref: MONDO:0015443 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9007163 name: Craniotelencephalic Dysplasia alt_id: MIM:218670 synonym: "Complex of anomalies involving the cranium and brain" EXACT [] xref: MESH:C535597 is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9007164 name: Dyschondrosteosis and Nephritis alt_id: MIM:127350 xref: MESH:C565080 is_a: DOID:10952 ! nephritis is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007165 name: Peroxisome Biogenesis Disorder, Complementation Group E xref: MESH:C566569 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9007166 name: Meningeal Neoplasms def: "Benign and malignant neoplastic processes that arise from or secondarily involve the meningeal coverings of the brain and spinal cord." [MESH:D008577] synonym: "Benign Meningeal Neoplasm" NARROW [] synonym: "benign meningeal neoplasms" NARROW [] synonym: "Intracranial Meningeal Neoplasm" EXACT [] synonym: "intracranial meningeal neoplasms" EXACT [] synonym: "Leptomeningeal Neoplasm" EXACT [] synonym: "Leptomeningeal Neoplasms" EXACT [] synonym: "Malignant Meningeal Neoplasm" NARROW [] synonym: "Malignant Meningeal Neoplasms" NARROW [] synonym: "Meningeal Cancer" NARROW [] synonym: "Meningeal Cancers" NARROW [] synonym: "Meningeal Neoplasm" EXACT [] synonym: "Meningeal Tumor" EXACT [] synonym: "Meningeal Tumors" EXACT [] synonym: "spinal meningeal neoplasm" EXACT [] synonym: "spinal meningeal neoplasms" EXACT [] xref: EFO:0003851 xref: MESH:D008577 xref: NCI:C3229 is_a: DOID:9007701 ! Central Nervous System Neoplasms [Term] id: DOID:9007167 name: Carney Triad alt_id: MIM:604287 synonym: "Gastric Leiomyosarcoma, Pulmonary Chondroma, and Extraadrenal Paraganglioma" EXACT [] xref: MESH:C565803 is_a: DOID:0050773 ! paraganglioma is_a: DOID:1967 ! leiomyosarcoma is_a: DOID:2602 ! chondroma is_a: DOID:9000217 ! Stomach Neoplasms is_a: DOID:9005172 ! Lung Neoplasms [Term] id: DOID:9007168 name: Genetic Skin Diseases alt_id: RDO:0001013 def: "Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism." [MESH:D012873] synonym: "Genetic Skin Disease" EXACT [] xref: MESH:D012873 is_a: DOID:37 ! skin disease is_a: DOID:630 ! genetic disease [Term] id: DOID:9007169 name: Ichthyosiform Erythroderma, Corneal Involvement, Deafness alt_id: MIM:242150 synonym: "Desmons syndrome" EXACT [] synonym: "Ichthyosiform erythroderma, corneal involvement, and deafness" EXACT [] synonym: "Keratitis-ichthyosis-deafness syndrome, autosomal recessive" EXACT [] synonym: "Kid syndrome, autosomal recessive" EXACT [] xref: MESH:C537363 is_a: DOID:0060656 ! autosomal recessive congenital ichthyosis 1 is_a: DOID:2566 ! corneal dystrophy is_a: DOID:9005709 ! Keratitis-Ichthyosis-Deafness Syndrome [Term] id: DOID:9007170 name: Bowen's Disease def: "A persistent progressive non-elevated red scaly or crusted plaque which is due to an intradermal carcinoma and is potentially malignant. Atypical squamous cells proliferate through the whole thickness of the epidermis. The lesions may occur anywhere on the skin surface or on mucosal surfaces. The cause most frequently found is trivalent arsenic compounds. Freezing, cauterization or diathermy coagulation is often effective. (From Rook et al., Textbook of Dermatology, 4th ed, pp2428-9)" [MESH:D001913] synonym: "Bowen Disease" EXACT [] synonym: "Bowens Disease" EXACT [] xref: MESH:D001913 is_a: DOID:1749 ! squamous cell carcinoma [Term] id: DOID:9007171 name: Intraoperative Complications def: "Complications that affect patients during surgery. They may or may not be associated with the disease for which the surgery is done, or within the same surgical procedure." [MESH:D007431] synonym: "Intraoperative Complication" EXACT [] synonym: "Peroperative Complication" EXACT [] synonym: "Peroperative Complications" EXACT [] synonym: "Surgical Injuries" EXACT [] synonym: "Surgical Injury" EXACT [] xref: MESH:D007431 xref: RDO:0005903 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9007172 name: Cardiac Valvular Dysplasia is_a: DOID:1682 ! congenital heart disease is_a: DOID:4079 ! heart valve disease created_by: mtutaj creation_date: 2023-09-01T08:59:35Z [Term] id: DOID:9007173 name: Familial Natural Short Sleep 1 synonym: "FNSS1" EXACT [] xref: MIM:612975 is_a: DOID:9006913 ! Short Sleep created_by: mtutaj creation_date: 2019-12-19T10:09:35Z [Term] id: DOID:9007174 name: Ventricular Remodeling def: "The geometric and structural changes that the HEART VENTRICLES undergo, usually following MYOCARDIAL INFARCTION. It comprises expansion of the infarct and dilatation of the healthy ventricle segments. While most prevalent in the left ventricle, it can also occur in the right ventricle." [MESH:D020257] synonym: "Left Ventricle Remodeling" EXACT [] synonym: "Left Ventricle Remodelings" EXACT [] synonym: "Left Ventricular Remodeling" EXACT [] synonym: "Left Ventricular Remodelings" EXACT [] synonym: "Ventricle Remodeling" EXACT [] synonym: "Ventricle Remodelings" EXACT [] synonym: "Ventricular Cardiac Remodeling" EXACT [] synonym: "Ventricular Cardiac Remodelings" EXACT [] synonym: "Ventricular Myocardial Remodeling" EXACT [] synonym: "Ventricular Myocardial Remodelings" EXACT [] synonym: "Ventricular Remodelings" EXACT [] xref: MESH:D020257 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9007175 name: Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, Autosomal Dominant synonym: "ADRESD" EXACT [] synonym: "RESDAD" EXACT [] xref: MESH:C563392 xref: RDO:0012659 is_a: DOID:0060135 ! apraxia is_a: DOID:1059 ! intellectual disability is_a: DOID:3329 ! benign epilepsy with centrotemporal spikes [Term] id: DOID:9007176 name: Rheumatic Nodule def: "A small round or oval, mostly subcutaneous nodule made up chiefly of a mass of Aschoff bodies and seen in cases of rheumatic fever. It is differentiated from the RHEUMATOID NODULE which appears in rheumatoid arthritis, most frequently over bony prominences. (From Dorland, 27th ed)" [MESH:D012215] synonym: "Aschoff Bodies" EXACT [] synonym: "Rheumatic Nodules" EXACT [] xref: EFO:1001416 xref: MESH:D012215 xref: RDO:0006491 is_a: DOID:1586 ! rheumatic fever [Term] id: DOID:9007177 name: Noninsulin-Dependent Diabetes Mellitus with Deafness alt_id: MIM:520000 synonym: "Ballinger-Wallace syndrome" EXACT [] synonym: "Diabetes mellitus, type 2, with deafness" EXACT [] synonym: "Diabetes Mellitus, Type II, With Deafness" EXACT [] synonym: "Maternally inherited diabetes and deafness" EXACT [] synonym: "Maternally Transmitted Diabetes-Deafness Syndrome" EXACT [] synonym: "MIDD" EXACT [] synonym: "mitochondrial inherited diabetes and deafness" EXACT [] synonym: "NIDDM with deafness" EXACT [] xref: MESH:C536246 is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9008681 ! Deafness is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:9007178 name: Reciprocating Tachycardia def: "Abnormally rapid heartbeats caused by reentrant conduction over the accessory pathways between the HEART ATRIA and the HEART VENTRICLES. The impulse can also travel in the reverse direction, as in some cases, atrial impulses travel to the ventricles over the accessory pathways and back to the atria over the BUNDLE OF HIS and the ATRIOVENTRICULAR NODE." [MESH:D054139] synonym: "Reciprocal Tachycardia" EXACT [] synonym: "Reciprocal Tachycardias" EXACT [] synonym: "Reciprocating Tachycardias" EXACT [] xref: EFO:1001432 xref: MESH:D054139 is_a: DOID:9002554 ! Tachycardia [Term] id: DOID:9007179 name: Ectodermal Dysplasia Adrenal Cyst alt_id: MIM:129550 synonym: "Adrenal cyst with ectodermal dysplasia" EXACT [] xref: MESH:C538015 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9007583 ! Cysts is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:9007180 name: HELIX syndrome synonym: "HELIX" EXACT [] synonym: "hypohidrosis, electrolyte imbalance, lacrimal gland dysfunction, ichthyosis, and xerostomia" EXACT [] xref: MIM:617671 is_a: DOID:0111866 ! trichothiodystrophy is_a: DOID:225 ! syndrome is_a: DOID:9004004 ! Water-Electrolyte Imbalance is_a: DOID:9004062 ! Hyperhidrosis is_a: DOID:9006511 ! Xerostomia created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:9007181 name: Osteoporotic Fractures def: "Breaks in bones resulting from low bone mass and microarchitectural deterioration characteristic of OSTEOPOROSIS." [MESH:D058866] synonym: "Osteoporotic Fracture" EXACT [] xref: MESH:D058866 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9007182 name: Right Ventricular Outflow Obstruction def: "Occlusion of the outflow tract in the RIGHT VENTRICLE of the heart." [] synonym: "Dynamic Right Ventricular Outflow Tract Obstruction" EXACT [] synonym: "Dynamic RVOT Obstruction" EXACT [] synonym: "Right Ventricular Outflow Tract Obstruction" EXACT [] synonym: "RVOT Obstruction" EXACT [] xref: MESH:D000092243 is_a: DOID:9004319 ! Ventricular Outflow Obstruction created_by: mtutaj creation_date: 2022-12-12T14:37:44Z [Term] id: DOID:9007183 name: Premature Chromatid Separation Trait synonym: "PCS" EXACT [] synonym: "TOTAL PREMATURE CHROMATID SEPARATION TRAIT" EXACT [] xref: EFO:0009077 xref: MIM:176430 xref: MONDO:0008304 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9007184 name: Meckel-Like Cerebrorenodigital Syndrome xref: MESH:C567004 xref: RDO:0015194 is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome is_a: DOID:9000983 ! Encephalocele [Term] id: DOID:9007185 name: Shprintzen-Goldberg Craniosynostosis alt_id: MIM:182212 synonym: "craniosynostosis and marfanoid disorder, type 1" EXACT [] synonym: "craniosynostosis with arachnodactyly and abdominal hernias" EXACT [] synonym: "marfanoid craniosynostosis syndrome" EXACT [] synonym: "marfanoid disorder with craniosynostosis, type I" EXACT [] synonym: "SGS" EXACT [] synonym: "Shprintzen-Goldberg craniosynostosis syndrome" EXACT [] synonym: "Shprintzen-Goldberg syndrome" EXACT [] xref: MESH:C537328 xref: NCI:C124840 xref: ORDO:2462 is_a: DOID:14323 ! Marfan syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:9005367 ! Arachnodactyly [Term] id: DOID:9007186 name: Partial Aniridia with Unilateral Renal Agenesis and Psychomotor Retardation synonym: "aniridia, renal agenesis, psychomotor retardation" EXACT [] xref: MIM:206750 is_a: DOID:12271 ! aniridia is_a: DOID:14766 ! renal agenesis is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9007187 name: Congenital Myasthenic Syndrome, with Facial Dysmorphism alt_id: RDO:0012989 synonym: "congenital myasthenic syndrome, associated with facial dysmorphism" EXACT [] xref: MESH:C563830 is_a: DOID:0060260 ! ptosis is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:9007188 name: Liver Neoplasms synonym: "hepatic neoplasm" EXACT [] synonym: "hepatic neoplasms" EXACT [] synonym: "liver neoplasm" EXACT [] synonym: "neoplasm of liver" EXACT [] synonym: "NEOPLASM OF THE LIVER" EXACT [] xref: EFO:1001513 xref: MESH:D008113 is_a: DOID:409 ! liver disease is_a: DOID:9005424 ! Neoplasms by Site created_by: mtutaj creation_date: 2019-10-23T14:23:10Z [Term] id: DOID:9007189 name: Multifocal Choroiditis def: "A multifocal uveitis syndrome involving the RETINAL PIGMENT EPITHELIUM and capillary layer of the CHOROID. It is characterized by chronic UVEITIS and multiple CHOROID lesions referred to as white dots, blurry vision, floaters, sensitivity to light, blind spots, and eye discomfort. (MESH)" [] xref: MESH:D000080364 is_a: DOID:11406 ! choroiditis is_a: DOID:9003271 ! White Dot Syndromes [Term] id: DOID:9007190 name: Rheumatoid Vasculitis def: "Necrotizing VASCULITIS of small and medium size vessels, developing as a complication in RHEUMATOID ARTHRITIS patients. It is characterized by peripheral vascular lesions, cutaneous ULCERS, peripheral GANGRENE, and MONONEURITIS MULTIPLEX." [MESH:D056653] synonym: "Rheumatoid Vasculitides" EXACT [] xref: MESH:D056653 is_a: DOID:7148 ! rheumatoid arthritis is_a: DOID:9003199 ! Systemic Vasculitis [Term] id: DOID:9007191 name: Chromosome 9, Tetrasomy 9p synonym: "Chromosome 9, tetrasomy 9p mosaicism" EXACT [] synonym: "Mosaic tetrasomy 9p" EXACT [] synonym: "Tetrasomy 9p" EXACT [] synonym: "Tetrasomy, short arm of chromosome 9" EXACT [] xref: GARD:42 xref: MESH:C538027 xref: MONDO:0018030 xref: ORDO:3310 is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9007192 name: Noninflammatory Corneal Thinning xref: MESH:C531720 xref: RDO:0000139 is_a: DOID:10126 ! keratoconus [Term] id: DOID:9007194 name: Sciatica def: "A condition characterized by pain radiating from the back into the buttock and posterior/lateral aspects of the leg. Sciatica may be a manifestation of SCIATIC NEUROPATHY; RADICULOPATHY (involving the SPINAL NERVE ROOTS; L4, L5, S1, or S2, often associated with INTERVERTEBRAL DISK DISPLACEMENT); or lesions of the CAUDA EQUINA." [MESH:D012585] synonym: "Bilateral Sciatica" EXACT [] synonym: "Bilateral Sciaticas" EXACT [] synonym: "Sciatic Neuralgia" EXACT [] synonym: "Sciatic Neuralgias" EXACT [] xref: MESH:D012585 xref: RDO:0000199 is_a: DOID:11446 ! sciatic neuropathy is_a: DOID:9005968 ! Neuralgia [Term] id: DOID:9007195 name: Meacham Winn Culler Syndrome alt_id: MIM:608978 synonym: "Meacham syndrome" EXACT [] xref: MESH:C538162 is_a: DOID:14448 ! 46,XY sex reversal is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome [Term] id: DOID:9007196 name: Congenital Myasthenia, Refractory to Acetylcholinesterase Inhibitors alt_id: MIM:254190 synonym: "MYASTHENIA, CONGENITAL, REFRACTORY TO ACETYLCHOLINESTERASE INHIBITORS" EXACT [] xref: MESH:C564979 is_a: DOID:3635 ! congenital myasthenic syndrome [Term] id: DOID:9007197 name: Crisscross Heart def: "A developmental malformation of the heart characterized by a twisted but not defective atrioventicular connection. The abnormal rotation of the ventricular mass around its long axis results in the crossing of the inflow streams of the two ventricles. Other features include hypoplasia of the TRICUSPID VALVE and RIGHT VENTRICLE." [MESH:D003420] synonym: "Criss cross Heart" EXACT [] synonym: "Criss-cross Hearts" EXACT [] synonym: "Crisscross Hearts" EXACT [] xref: MESH:D003420 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9007198 name: Seaver Cassidy Syndrome xref: MESH:C537529 is_a: DOID:225 ! syndrome is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007199 name: Paraneoplastic Syndromes def: "In patients with neoplastic diseases a wide variety of clinical pictures which are indirect and usually remote effects produced by tumor cell metabolites or other products." [MESH:D010257] synonym: "Paraneoplastic Syndrome" EXACT [] xref: MESH:D010257 xref: RDO:0006200 is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:225 ! syndrome [Term] id: DOID:9007200 name: acute promyelocytic leukemia with PLZF/RARA def: "This disease is an acute promyelocytic leukemia that is characterized by cervical lymphadenopathy, absence of hepatosplenomegaly, bone marrow hypercellularity with 69% APL-like promyelocytes, and the t(11;17) (q23;21) translocation generating a PLZF-RARA fusion gene." [PMID:8387545] synonym: "Leukemia, acute promyelocytic, PLZF/RARA type" EXACT [] synonym: "ZBTB16-RELATED CONDITION" EXACT [] is_a: DOID:0060318 ! acute promyelocytic leukemia created_by: slaulederkind creation_date: 2024-05-23T11:14:53Z [Term] id: DOID:9007202 name: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA def: "This is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. Brain imaging shows abnormalities of the cerebellum." [MIM:619306] synonym: "NEDFACH" EXACT [] xref: MIM:619306 xref: MONDO:0859141 is_a: DOID:0070338 ! cerebellar hypoplasia is_a: DOID:9001487 ! Facies created_by: slaulede creation_date: 2021-06-18T10:51:30Z [Term] id: DOID:9007203 name: Slipped Epiphyses def: "A complete or partial separation of the EPIPHYSES from the DIAPHYSES." [MESH:D004839] synonym: "Epiphysiolyses" EXACT [] synonym: "Epiphysiolysis" EXACT [] xref: EFO:1001317 xref: MESH:D004839 is_a: DOID:0080001 ! bone disease [Term] id: DOID:9007204 name: Dysbiosis def: "Changes in quantitative and qualitative composition of MICROBIOTA. The changes may lead to altered host microbial interaction or homeostatic imbalance that can contribute to a disease state often with inflammation." [MESH:D064806] synonym: "Disbacterioses" EXACT [] synonym: "Disbacteriosis" EXACT [] synonym: "Disbioses" EXACT [] synonym: "Disbiosis" EXACT [] synonym: "Dysbacterioses" EXACT [] synonym: "Dysbacteriosis" EXACT [] synonym: "Dysbioses" EXACT [] synonym: "Dys-symbioses" EXACT [] synonym: "Dys symbiosis" EXACT [] xref: MESH:D064806 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9007205 name: Spinal Muscular Atrophy, Ryukyuan Type alt_id: MIM:271200 synonym: "Ryukyuan muscular atrophy" EXACT [] xref: MESH:C536881 is_a: DOID:12377 ! spinal muscular atrophy [Term] id: DOID:9007206 name: Stomach Diverticulum def: "Saccular, outward protrusion of all or a portion of the wall of the STOMACH." [MESH:D013273] synonym: "Gastric Diverticula" EXACT [] synonym: "Gastric Diverticulum" EXACT [] synonym: "Stomach Diverticula" EXACT [] xref: EFO:1001850 xref: MESH:D013273 is_a: DOID:9001008 ! Diverticulum [Term] id: DOID:9007207 name: Skin/Hair/Eye Pigmentation, Variation In, 7 alt_id: MIM:611664 synonym: "SHEP7" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 7, Blond-Brown Hair" EXACT [] synonym: "Skin-Hair-Eye Pigmentation 7, Dark-Light Skin" EXACT [] xref: MESH:C567155 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9001946 ! Skin Abnormalities [Term] id: DOID:9007209 name: Somatic Meningioma synonym: "Meningioma, NF2-related, somatic" EXACT [] is_a: DOID:4586 ! familial meningioma [Term] id: DOID:9007210 name: Postaxial Polydactyly, with Dental and Vertebral Anomalies alt_id: MIM:263540 xref: MESH:C564880 is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9003071 ! Postaxial Polydactyly is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9007212 name: Anodontia of Permanent Dentition alt_id: MIM:206780 synonym: "Absence of Permanent Teeth" EXACT [] xref: MESH:C563203 is_a: DOID:13714 ! anodontia [Term] id: DOID:9007213 name: Congenital Nonspherocytic Hemolytic Anemia 10 synonym: "CNSHA10" EXACT [] synonym: "GSR-RELATED CONDITION" EXACT [] synonym: "Hemolytic Anemia due to Deficiency of Glutathione Reductase, in Red Cells" EXACT [] synonym: "Hemolytic Anemia due to Glutathione Reductase Deficiency" EXACT [] xref: MESH:C564218 xref: MIM:618660 xref: MONDO:0019531 xref: ORDO:90030 is_a: DOID:2861 ! congenital nonspherocytic hemolytic anemia [Term] id: DOID:9007214 name: Cancer of the Oviduct xref: MESH:C538511 xref: RDO:0004467 is_a: DOID:9000189 ! Fallopian Tube Neoplasms [Term] id: DOID:9007215 name: Familial Ventricular Tachycardia alt_id: RDO:0008196 synonym: "familial polymorphic ventricular tachycardia" EXACT [] synonym: "polymorphic ventricular tachycardia" EXACT [] xref: MIM:192605 is_a: DOID:9005141 ! Ventricular Tachycardia [Term] id: DOID:9007216 name: Spastic Paraplegia with Precocious Puberty alt_id: MIM:182820 synonym: "Familial spastic paraplegia, mental retardation, and precocious puberty" EXACT [] xref: MESH:C536874 is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9007284 ! Precocious Puberty [Term] id: DOID:9007217 name: Corneal Dystrophy, Fuchs Endothelial, 8 synonym: "FECD8" EXACT [] xref: MIM:615523 is_a: DOID:11555 ! Fuchs' endothelial dystrophy [Term] id: DOID:9007218 name: Supernumerary Der(22)t(8;22) Syndrome xref: MIM:613700 is_a: DOID:1059 ! intellectual disability is_a: DOID:2742 ! auditory system disease is_a: DOID:9007973 ! Genetic Translocation [Term] id: DOID:9007219 name: Marfanoid Habitus with Situs Inversus alt_id: MIM:609008 xref: MESH:C563814 is_a: DOID:14323 ! Marfan syndrome is_a: DOID:758 ! situs inversus [Term] id: DOID:9007220 name: Cleidocranial Dysplasia, Forme Fruste, Dental Anomalies Only xref: MESH:C563974 is_a: DOID:13994 ! cleidocranial dysplasia is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9007221 name: Jorgenson Lenz Syndrome synonym: "Blepharophimosis radioulnar synostosis" EXACT [] synonym: "Mild short stature, microcephaly, ptosis-blepharophimosis, facial asymmetry, and radioulnar synostosis" EXACT [] synonym: "Ptosis, prognathism, microcephaly, radio-ulnar synostosis, short stature-dwarfism" EXACT [] xref: MESH:C536292 is_a: DOID:10348 ! blepharophimosis is_a: DOID:10907 ! microcephaly is_a: DOID:11971 ! synostosis is_a: DOID:225 ! syndrome is_a: DOID:9003576 ! Prognathism is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007222 name: Bone Marrow Failure Disorders synonym: "bone marrow failure" EXACT [] synonym: "bone marrow failure disorder" EXACT [] synonym: "bone marrow failure syndrome" EXACT [] synonym: "bone marrow failure syndromes" EXACT [] xref: MESH:D000080983 xref: MIM:PS614675 is_a: DOID:4961 ! bone marrow disease [Term] id: DOID:9007223 name: Isolated Thoracic Dysostosis alt_id: MIM:187750 xref: MESH:C566063 is_a: DOID:1934 ! dysostosis [Term] id: DOID:9007224 name: Neurodevelopmental Disorder with Facial Dysmorphism, Absent Language, and Pseudo-Pelger-Huet Anomaly def: "An autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development. Caused by homozygous or compound heterozygous mutation in the TMEM147 gene on chromosome 19q32." [MIM:620075] synonym: "NEDFLPH" EXACT [] synonym: "TMEM147-RELATED CONDITION" EXACT [] xref: MIM:620075 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9500 ! leukocyte disease created_by: mtutaj creation_date: 2022-10-19T12:13:56Z [Term] id: DOID:9007225 name: Obsessive Hoarding def: "Persistent difficulty discarding or parting with possessions, regardless of the value of these possessions. Epidemiological studies suggest that hoarding occurs in 2-5% of the population and can lead to substantial distress and disability, as well as serious public health consequences." [] synonym: "Hoarding" EXACT [] synonym: "Hoardings" EXACT [] synonym: "Obsessive Hoardings" EXACT [] xref: MESH:D060845 is_a: DOID:10933 ! obsessive-compulsive disorder [Term] id: DOID:9007226 name: Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 synonym: "FTDALS8" EXACT [] xref: MIM:619132 is_a: DOID:9003713 ! Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis created_by: mtutaj creation_date: 2021-01-07T09:58:19Z [Term] id: DOID:9007227 name: Bruck Syndrome 1 alt_id: MIM:259450 synonym: "Arthrogryposis-like disorder" EXACT [] synonym: "BRKS1" EXACT [] synonym: "FKBP10-RELATED CONDITION" BROAD [] synonym: "Kuskokwim disease" EXACT [] xref: MESH:C537406 xref: MESH:C538124 is_a: DOID:0060231 ! Bruck syndrome [Term] id: DOID:9007228 name: Renal Nutcracker Syndrome def: "Left RENAL VEIN compression between the AORTA, ABDOMINAL and the SUPERIOR MESENTERIC ARTERY. Variable symptoms include HYPERTENSION, RENOVASCULAR; HEMATURIA; and VARICOSE VEINS." [MESH:D059228] synonym: "Renal Nutcracker Phenomenon" EXACT [] synonym: "renal nutcracker phenomenons" EXACT [] synonym: "Renal Nutcracker Syndromes" EXACT [] synonym: "renal vein entrapment syndrome" EXACT [] xref: EFO:1001838 xref: EFO:1001915 xref: MESH:D059228 is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease [Term] id: DOID:9007229 name: Neurodevelopmental Disorder with Dysmorphic Facies and Variable Seizures def: "An autosomal recessive disorder characterized by global developmental delay apparent in early childhood. Caused by homozygous mutation in the EMC10 gene on chromosome 19q13. (OMIM)" [] synonym: "NEDDFAS" EXACT [] xref: MIM:619264 is_a: DOID:1826 ! epilepsy is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2021-04-14T14:45:08Z [Term] id: DOID:9007230 name: Ectodermal Dysplasia and Neurosensory Deafness alt_id: MIM:224800 xref: MESH:C565606 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:9007231 name: Spondylomegaepiphyseal Dysplasia with Upper Limb Mesomelia, Punctate Calcifications, and Deafness alt_id: MIM:609616 xref: MESH:C566507 is_a: DOID:182 ! calcinosis is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9007232 name: Schrander-Stumpel Theunissen Hulsmans Syndrome synonym: "Vitiligo, psychomotor retardation, cleft palate and facial dysmorphism" EXACT [] synonym: "Vitiligo vulgaris, cleft palate, somatic and psychomotor retardation and facial dysmorphism" EXACT [] xref: MESH:C536639 is_a: DOID:1059 ! intellectual disability is_a: DOID:12306 ! vitiligo is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007233 name: Deafness, with Smith-Magenis Syndrome xref: RDO:9000633 is_a: DOID:0060768 ! Smith-Magenis syndrome is_a: DOID:225 ! syndrome is_a: DOID:9008681 ! Deafness [Term] id: DOID:9007234 name: Carotid Artery Dissection, Internal alt_id: RDO:0007354 def: "The splitting of the vessel wall in one or both (left and right) internal carotid arteries (CAROTID ARTERY, INTERNAL). Interstitial hemorrhage into the media of the vessel wall can lead to occlusion of the internal carotid artery and aneurysm formation." [MESH:D020215] xref: MESH:D020215 is_a: DOID:9006045 ! Dissecting Aneurysm is_a: DOID:9348 ! carotid artery dissection [Term] id: DOID:9007235 name: Hydatidiform Mole, Recurrent, 4 def: "Hydatidiform mole is a human pregnancy with abnormal or no embryonic development and excessive trophoblastic proliferation. Partial hydatidiform moles have a triploid dispermic genome, with 2 sets of paternal chromosomes and 1 set of maternal chromosomes; complete hydatidiform moles have a diploid androgenetic genome with all chromosomes originating from 1 (monospermic) or 2 (dispermic) sperms, and no maternal chromosomes. Recurrent hydatidiform mole-4 (HYDM4) is caused by homozygous mutation in the C11ORF80 gene on chromosome 11q13. (OMIM)" [] synonym: "HYDM4" EXACT [] xref: MIM:618432 is_a: DOID:9005147 ! Hydatidiform Mole created_by: gthayman creation_date: 2019-06-17T12:54:42Z [Term] id: DOID:9007236 name: Rhinophyma def: "A manifestation of severe ROSACEA resulting in significant enlargement of the NOSE and occurring primarily in men. It is caused by hypertrophy of the SEBACEOUS GLANDS and surrounding CONNECTIVE TISSUE. The nose is reddened and marked with TELANGIECTASIS." [MESH:D012224] synonym: "Rhinophymas" EXACT [] xref: MESH:D012224 is_a: DOID:8881 ! rosacea is_a: DOID:9098 ! sebaceous gland disease [Term] id: DOID:9007237 name: Angel Shaped Phalangoepiphyseal Dysplasia alt_id: MIM:105835 synonym: "Angel-shaped phalango-epiphyseal dysplasia" EXACT [] synonym: "ASPED" EXACT [] xref: MESH:C536361 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9007238 name: Hypoplastic Thumb with Choroid Coloboma, Poorly Developed Antihelix, and Deafness alt_id: MIM:274205 xref: MESH:C564769 is_a: DOID:0060140 ! cortical deafness is_a: DOID:12270 ! coloboma is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007239 name: Pulmonic Stenosis and Congenital Nephrosis alt_id: MIM:265600 xref: MESH:C562895 is_a: DOID:2527 ! nephrosis is_a: DOID:6420 ! pulmonary valve stenosis [Term] id: DOID:9007240 name: Imerslund-Grasbeck Syndrome 2 synonym: "IGS2" EXACT [] synonym: "Intestinal cobalamin malabsorption, AMN-related" NARROW [] synonym: "Intestinal cobalamin malabsorption due to AMN mutation" NARROW [] synonym: "megaloblastic anemia-1, Norwegian type" EXACT [] synonym: "megaloblastic anemia, Norwegian type" EXACT [] synonym: "MGA1 Norwegian type" EXACT [] xref: MIM:618882 is_a: DOID:9006825 ! Imerslund-Grasbeck Syndrome created_by: mtutaj creation_date: 2020-05-19T06:48:09Z [Term] id: DOID:9007241 name: Otorhinolaryngologic Diseases def: "Pathological processes of the ear, the nose, and the throat, also known as the ENT diseases." [MESH:D010038] subset: RGD_JBrowse_slim synonym: "ENT Disease" EXACT [] synonym: "ENT diseases" EXACT [] synonym: "Otolaryngological Disease" EXACT [] synonym: "Otolaryngological Diseases" EXACT [] synonym: "Otolaryngologic Disease" EXACT [] synonym: "Otolaryngologic Diseases" EXACT [] synonym: "Otorhinolaryngological Disease" EXACT [] synonym: "Otorhinolaryngological Diseases" EXACT [] synonym: "otorhinolaryngologic disease" EXACT [] synonym: "throat disease" NARROW [] xref: EFO:0009479 xref: MESH:D010038 is_a: DOID:0050155 ! sensory system disease [Term] id: DOID:9007242 name: Spondyloepiphyseal Dysplasia Tarda, Toledo Type alt_id: MIM:271630 synonym: "BCYM1B" EXACT [] synonym: "brachyolmia type 1, Toledo type" EXACT [] synonym: "Paps-Chondroitin Sulfate Sulfotransferase Deficiency" EXACT [] synonym: "SED, chondroitin sulfate type" EXACT [] synonym: "Spondyloepiphyseal dysplasia, chondroitin sulfate type" EXACT [] synonym: "Toledo type brachyolmia" EXACT [] xref: MESH:C535787 is_a: DOID:0112284 ! spondyloepiphyseal dysplasia tarda is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008606 ! Corneal Opacity [Term] id: DOID:9007243 name: Flavimonas Oryzihabitans Bacteremia xref: MESH:C537061 xref: RDO:0002822 is_a: DOID:9005036 ! Bacteremia is_a: DOID:9007417 ! Pseudomonas Infections [Term] id: DOID:9007244 name: Paramyxoviridae Infections def: "Infections with viruses of the family PARAMYXOVIRIDAE. This includes MORBILLIVIRUS INFECTIONS; RESPIROVIRUS INFECTIONS; PNEUMOVIRUS INFECTIONS; HENIPAVIRUS INFECTIONS; AVULAVIRUS INFECTIONS; and RUBULAVIRUS INFECTIONS." [MESH:D018184] synonym: "Parainfluenza" EXACT [] synonym: "Parainfluenza Virus Infection" EXACT [] synonym: "Parainfluenza Virus Infections" EXACT [] synonym: "Paramyxoviridae Infection" EXACT [] xref: EFO:0007419 xref: MESH:D018184 xref: RDO:0006283 is_a: DOID:9007829 ! Mononegavirales Infections [Term] id: DOID:9007246 name: Chromosome 17 Ring xref: MESH:C538046 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9007247 name: Piepkorn Karp Hickok syndrome xref: MESH:C535774 is_a: DOID:11193 ! syndactyly is_a: DOID:182 ! calcinosis is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:674 ! cleft palate is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9002682 ! Cardiovascular Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007248 name: Weill-Marchesani Syndrome 3 synonym: "WMS3" EXACT [] xref: MIM:614819 is_a: DOID:0050475 ! Weill-Marchesani syndrome is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9007249 name: Metaphyseal Dysplasia without Hypotrichosis alt_id: MIM:250460 synonym: "Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia without Hypotrichosis or Immunodeficiency" EXACT [] synonym: "Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only" EXACT [] synonym: "CHHV" EXACT [] synonym: "MDWH" EXACT [] xref: MESH:C563574 is_a: DOID:0080019 ! metaphyseal dysplasia [Term] id: DOID:9007250 name: Complex Cortical Dysplasia with Other Brain Malformations 11 def: "An autosomal recessive disorder characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects. Caused by homozygous or compound heterozygous mutation in the KIF26A gene on chromosome 14q32." [MIM:620156] synonym: "CDCBM11" EXACT [] xref: MIM:620156 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: mtutaj creation_date: 2022-12-12T08:47:40Z [Term] id: DOID:9007251 name: Hyperesthesia def: "Increased sensitivity to cutaneous stimulation due to a diminished threshold or an increased response to stimuli." [MESH:D006941] synonym: "hyperesthesias" EXACT [] synonym: "Hyperesthetic Sensation" EXACT [] synonym: "Hyperesthetic Sensations" EXACT [] synonym: "Oxyesthesia" EXACT [] synonym: "Oxyesthesias" EXACT [] synonym: "Tactile Hyperesthesia" EXACT [] synonym: "Tactile Hyperesthesias" EXACT [] synonym: "Thermal Hyperesthesia" EXACT [] synonym: "thermal hyperesthesias" EXACT [] xref: MESH:D006941 is_a: DOID:9008625 ! Somatosensory Disorders [Term] id: DOID:9007252 name: Gastric Mucosa-Associated Lymphoid Tissue Lymphoma def: "Ths is a low grade, indolent B-cell lymphoma, usually associated with Helicobacter pylori infection. Morphologically it is characterized by a dense mucosal atypical lymphocytic (centrocyte-like cell) infiltrate with often prominent lymphoepithelial lesions and plasmacytic differentiation. Approximately 40% of gastric MALT lymphomas carry the t(11;18)(q21;q21). Such cases are resistant to Helicobacter pylori therapy." [NCI:C5266] synonym: "gastric MALT lymphoma" EXACT [] synonym: "gastric MALToma" EXACT [] synonym: "MALT lymphoma of stomach" EXACT [] synonym: "MALToma of stomach" EXACT [] synonym: "primary gastric MALT lymphoma" EXACT [] synonym: "primary MALT lymphoma of stomach" EXACT [] xref: EFO:1000274 is_a: DOID:0050909 ! extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue created_by: slaulede creation_date: 2023-02-23T17:01:55Z [Term] id: DOID:9007253 name: Hamartoma def: "A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area." [MESH:D006222] synonym: "Chondroid Hamartoma" NARROW [] synonym: "Colorectal Hamartoma" NARROW [] synonym: "Gastrointestinal Hamartoma" NARROW [] synonym: "Hamartomas" EXACT [] xref: EFO:1000175 xref: EFO:1000193 xref: EFO:1000280 xref: EFO:1000634 xref: MESH:D006222 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:9007254 name: Lumbar Stenosis, Familial xref: MESH:C563613 xref: MIM:152550 xref: MONDO:0007914 is_a: DOID:9001627 ! Pathologic Constriction [Term] id: DOID:9007255 name: Variegate Porphyria, Childhood-Onset def: "A rare disorder of heme biosynthesis characterized by severe PPOX deficiency, onset of photosensitization by porphyrins in early childhood, skeletal abnormalities of the hand, and, less consistently, short stature, impaired intellectual development, and seizures. Caused by homozygous or compound heterozygous mutation in the protoporphyrinogen oxidase gene (PPOX) on chromosome 1q23." [MIM:620483] synonym: "Variegate Porphyria, homozygous variant" EXACT [] synonym: "VPCO" EXACT [] xref: MIM:620483 is_a: DOID:4346 ! variegate porphyria created_by: mtutaj creation_date: 2023-09-01T09:27:53Z [Term] id: DOID:9007256 name: Prostate Cancer, Hereditary, 12 alt_id: MIM:611868 synonym: "Hpc12" EXACT [] xref: MESH:C567510 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9007257 name: Autosomal Dominant Hypocalcemia, with Bartter Syndrome synonym: "autosomal dominant hypocalcemia 1, with Bartter syndrome" EXACT [] synonym: "HYPOCALCEMIA, FAMILIAL HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME" NARROW [] xref: MESH:C563374 is_a: DOID:0090107 ! autosomal dominant hypocalcemia 1 is_a: DOID:445 ! Bartter disease [Term] id: DOID:9007259 name: Methylmalonyl-Coenzyme A Mutase Deficiency xref: MESH:C537573 xref: RDO:0003437 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9007260 name: Prostatism def: "Lower urinary tract symptom, such as slow urinary stream, associated with PROSTATIC HYPERPLASIA in older men." [MESH:D053448] xref: MESH:D053448 is_a: DOID:9003962 ! Lower Urinary Tract Symptoms [Term] id: DOID:9007261 name: Nonsyndromic Trigonocephaly synonym: "metopic craniosynostosis" EXACT [] xref: EFO:0008511 xref: MESH:C562951 xref: MIM:PS190440 is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9007262 name: Autosomal Recessive Nonsyndromic Deafness 124 def: "This is a disease characterized by congenital nonsyndromic progressive sensorineural hearing loss." [MIM:620794] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 124" EXACT [] synonym: "DFNB124" EXACT [] xref: MIM:620794 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: slaulederkind creation_date: 2024-05-10T17:36:25Z [Term] id: DOID:9007263 name: Cyanosis and Hepatic Disease alt_id: MIM:219400 xref: MESH:C565660 is_a: DOID:409 ! liver disease is_a: DOID:9000781 ! Cyanosis [Term] id: DOID:9007264 name: Chitty Hall Webb Syndrome xref: MESH:C535929 is_a: DOID:225 ! syndrome is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9007265 name: Hip Fractures def: "Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES)." [MESH:D006620] synonym: "Intertrochanteric Fractures" EXACT [] synonym: "Subtrochanteric Fractures" EXACT [] synonym: "Trochanteric Fractures" EXACT [] xref: EFO:0003964 xref: MESH:D006620 is_a: DOID:9008763 ! Femoral Fractures is_a: DOID:9008860 ! Hip Injuries [Term] id: DOID:9007266 name: Satoyoshi Syndrome alt_id: MIM:600705 synonym: "Intermittent muscle spasms with alopecia, diarrhea, and skeletal abnormalities" EXACT [] synonym: "Komuragaeri Disease" EXACT [] xref: MESH:C536616 is_a: DOID:13250 ! diarrhea is_a: DOID:225 ! syndrome is_a: DOID:9006743 ! Spasm is_a: DOID:987 ! alopecia [Term] id: DOID:9007267 name: Cocarcinogenesis def: "The combination of two or more different factors in the production of cancer." [MESH:D003043] synonym: "Cocarcinogeneses" EXACT [] xref: MESH:D003043 is_a: DOID:9007702 ! Carcinogenesis [Term] id: DOID:9007268 name: Wilms Tumor 6 synonym: "WT6" EXACT [] xref: MIM:616806 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:9007270 name: Freire-Maia Odontotrichomelic Syndrome alt_id: MIM:273400 synonym: "Odontotrichomelic hypohidrotic dysplasia" EXACT [] synonym: "TETRAMELIC DEFICIENCIES, ECTODERMAL DYSPLASIA, DEFORMED EARS, AND OTHER ABNORMALITIES" EXACT [] xref: MESH:C535637 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9007271 name: Hypoalbuminemia def: "A condition in which albumin level in blood (SERUM ALBUMIN) is below the normal range. Hypoalbuminemia may be due to decreased hepatic albumin synthesis, increased albumin catabolism, altered albumin distribution, or albumin loss through the urine (ALBUMINURIA)." [MESH:D034141] xref: MESH:D034141 is_a: DOID:9002513 ! Hypoproteinemia [Term] id: DOID:9007272 name: Infantile Liver Failure Syndrome 2 synonym: "FEVER-ASSOCIATED ACUTE INFANTILE LIVER FAILURE SYNDROME" EXACT [] synonym: "ILFS2" EXACT [] synonym: "NBAS-RELATED CONDITION" BROAD [] xref: MIM:616483 xref: NCI:C158135 is_a: DOID:0080716 ! infantile liver failure syndrome [Term] id: DOID:9007273 name: Pneumopericardium def: "Presence of air or gas in the space between the heart and the PERICARDIUM. The degree of respiratory distress depends on the amount of trapped air and circulation blocked in the systemic and pulmonary veins." [MESH:D011026] synonym: "Pneumopericardiums" EXACT [] xref: EFO:1001400 xref: MESH:D011026 is_a: DOID:114 ! heart disease [Term] id: DOID:9007274 name: Sweat Gland Neoplasms def: "New abnormal growth of tissue in the SWEAT GLANDS." [MESH:D013544] synonym: "neoplasm of sweat gland" EXACT [] synonym: "sweat gland neoplasms" EXACT [] synonym: "sweat gland tumor" EXACT [] synonym: "tumor of the sweat gland" EXACT [] xref: EFO:1001204 xref: MESH:D013544 xref: NCI:C3398 is_a: DOID:1383 ! sweat gland disease is_a: DOID:9004464 ! Skin Neoplasms created_by: mtutaj creation_date: 2020-04-21T08:33:18Z [Term] id: DOID:9007275 name: Congenital Fascial Dystrophy alt_id: MIM:228020 xref: MESH:C563219 is_a: DOID:65 ! connective tissue disease [Term] id: DOID:9007276 name: Diffuse Esophageal Spasm alt_id: RDO:0006844 def: "A hypermotility disorder of the ESOPHAGUS that is characterized by spastic non-peristaltic responses to SWALLOWING; CHEST PAIN; and DYSPHAGIA." [MESH:D015155] synonym: "Diffuse Esophageal Spasms" EXACT [] synonym: "Esophageal Spasm" EXACT [] synonym: "Esophageal Spasms" EXACT [] xref: EFO:1001785 xref: MESH:D015155 is_a: DOID:9192 ! dyskinesia of esophagus [Term] id: DOID:9007277 name: Split-Hand and Split-Foot With Hypodontia alt_id: MIM:183500 xref: MESH:C566665 is_a: DOID:0090020 ! split hand-foot malformation is_a: DOID:13714 ! anodontia [Term] id: DOID:9007278 name: Anaphylaxis def: "An acute hypersensitivity reaction due to exposure to a previously encountered ANTIGEN. The reaction may include rapidly progressing URTICARIA, respiratory distress, vascular collapse, systemic SHOCK, and death." [MESH:D000707] synonym: "Anaphylactic Reaction" EXACT [] synonym: "Anaphylactic Reactions" EXACT [] synonym: "Anaphylactic Shock" EXACT [] synonym: "non-allergic anaphylaxis" NARROW [] xref: EFO:0020918 xref: MESH:D000707 is_a: DOID:9002850 ! Immediate Hypersensitivity [Term] id: DOID:9007279 name: Type 2 Diabetes Mellitus 1 alt_id: MIM:601283 synonym: "NIDDM1" EXACT [] synonym: "noninsulin-dependent diabetes mellitus 1" EXACT [] synonym: "T2D1" EXACT [] synonym: "TYPE 2 DIABETES MELLITUS 1, SUSCEPTIBILITY TO" RELATED [] xref: MESH:C563359 is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:9007280 name: Cognitive Function 1, Social synonym: "CGF1" EXACT [] synonym: "SOCIAL COGNITION" EXACT [] xref: MIM:300082 xref: RDO:0008548 is_a: DOID:3491 ! Turner syndrome [Term] id: DOID:9007281 name: Primary Hypertrophic Osteoarthropathy, Autosomal Dominant synonym: "autosomal dominant pachydermoperiostoses" EXACT [] synonym: "autosomal dominant pachydermoperiostosis" EXACT [] synonym: "PHOAD" EXACT [] synonym: "primary hypertrophic osteoarthropathy, autosomal dominant" EXACT [] xref: MIM:167100 is_a: DOID:14283 ! primary hypertrophic osteoarthropathy created_by: mtutaj creation_date: 2021-06-25T15:10:21Z [Term] id: DOID:9007282 name: Huntington's Disease-Like Syndrome synonym: "Huntington's Disease-Like Syndromes" EXACT [] synonym: "Huntington's Disease Phenocopies" EXACT [] synonym: "Huntington's Disease Phenocopy Syndromes" EXACT [] synonym: "Huntington Disease-Like Syndrome" EXACT [] synonym: "Huntington Disease-Like Syndromes" EXACT [] xref: MESH:C580174 xref: RDO:0015896 is_a: DOID:225 ! syndrome is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:9007283 name: Familial Infantile Convulsions and Paroxysmal Choreoathetosis alt_id: MIM:602066 synonym: "CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS" EXACT [] synonym: "ICCA" EXACT [] synonym: "ICCA syndrome" EXACT [] synonym: "PAROXYSMAL KINESIGENIC DYSKINESIA WITH INFANTILE CONVULSIONS" EXACT [] synonym: "PKD/IC" EXACT [] xref: MESH:C535522 is_a: DOID:0060169 ! benign familial infantile epilepsy is_a: DOID:11832 ! visual epilepsy is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9007284 name: Precocious Puberty def: "Development of SEXUAL MATURATION in boys and girls at a chronological age that is 2.5 standard deviations below the mean age at onset of PUBERTY in the population. This early maturation of the hypothalamic-pituitary-gonadal axis results in sexual precocity, elevated serum levels of GONADOTROPINS and GONADAL STEROID HORMONES such as ESTRADIOL and TESTOSTERONE." [MESH:D011629] synonym: "PERIPHERAL PRECOCIOUS PUBERTY" NARROW [] xref: MESH:D011629 is_a: DOID:2277 ! gonadal disease [Term] id: DOID:9007285 name: Primary Ovarian Insufficiency 21 def: "A female infertility due to primary or secondary amenorrhea. Caused by heterozygous mutation in the TP63 gene on chromosome 3q28." [MIM:620311] synonym: "POF21" EXACT [] synonym: "PREMATURE OVARIAN FAILURE 21" EXACT [] xref: MIM:620311 is_a: DOID:5426 ! primary ovarian insufficiency created_by: mtutaj creation_date: 2023-04-07T09:55:58Z [Term] id: DOID:9007286 name: Chromosome 2, Trisomy 2q synonym: "Duplication 2q" EXACT [] synonym: "Trisomy 2q" EXACT [] xref: MESH:C535367 xref: RDO:0000449 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007287 name: Pityriasis def: "A name originally applied to a group of skin diseases characterized by the formation of fine, branny scales, but now used only with a modifier. (Dorland, 27th ed)" [MESH:D010915] synonym: "Pityriases" EXACT [] xref: MESH:D010915 is_a: DOID:9008246 ! Papulosquamous Skin Diseases [Term] id: DOID:9007288 name: Left Ventricular Noncompaction 1 synonym: "LEFT VENTRICULAR NONCOMPACTION 1 WITH OR WITHOUT CONGENITAL HEART DEFECTS" EXACT [] synonym: "LVNC1" EXACT [] xref: MIM:604169 is_a: DOID:0060480 ! left ventricular noncompaction [Term] id: DOID:9007289 name: Hyperbilirubinemia, Shunt alt_id: MIM:237800 xref: MESH:C562451 is_a: DOID:9005094 ! Hereditary Hyperbilirubinemia [Term] id: DOID:9007290 name: Traumatic Subarachnoid Hemorrhage def: "Bleeding into the SUBARACHNOID SPACE due to CRANIOCEREBRAL TRAUMA. Minor hemorrhages may be asymptomatic; moderate to severe hemorrhages may be associated with INTRACRANIAL HYPERTENSION and VASOSPASM, INTRACRANIAL." [MESH:D020206] synonym: "Post Traumatic Subarachnoid Hemorrhage" EXACT [] synonym: "Post-Traumatic Subarachnoid Hemorrhages" EXACT [] synonym: "Traumatic Subarachnoid Hemorrhages" EXACT [] xref: MESH:D020206 is_a: DOID:9000438 ! Subarachnoid Hemorrhage is_a: DOID:9001829 ! Cerebrovascular Trauma is_a: DOID:9008598 ! Traumatic Intracranial Hemorrhage [Term] id: DOID:9007291 name: Anencephaly 2 def: "A severe neural tube defect caused by failure of neural tube closure anteriorly. Caused by homozygous mutation in the NUAK2 gene on chromosome 1q32. (OMIM)" [] synonym: "ANPH2" EXACT [] xref: MIM:619452 is_a: DOID:0060668 ! anencephaly created_by: mtutaj creation_date: 2021-07-27T14:28:21Z [Term] id: DOID:9007292 name: Schwartz-Lelek Syndrome synonym: "craniometadiaphyseal dysplasia" EXACT [] synonym: "craniometadiaphyseal dysplasia, wormian bone type" EXACT [] synonym: "genetic craniotubular bone dysplasias and hyperostoses" EXACT [] xref: MESH:C537519 xref: MIM:269300 xref: MONDO:0010014 xref: ORDO:85184 is_a: DOID:0080033 ! craniometaphyseal dysplasia is_a: DOID:205 ! hyperostosis is_a: DOID:225 ! syndrome is_a: DOID:9003133 ! Hypertelorism [Term] id: DOID:9007293 name: Euglenozoa Infections def: "Infections with the protozoa of the phylum EUGLENOZOA." [MESH:D056986] synonym: "Euglenozoa Infection" EXACT [] xref: EFO:1001319 xref: MESH:D056986 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:9007294 name: Lymphedema-Distichiasis Syndrome with Renal Disease and Diabetes Mellitus xref: MESH:C567188 is_a: DOID:0111509 ! lymphedema-distichiasis syndrome is_a: DOID:557 ! kidney disease is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9007295 name: Postpericardiotomy Syndrome def: "A nonspecific hypersensitivity reaction caused by TRAUMA to the PERICARDIUM, often following PERICARDIOTOMY. It is characterized by PERICARDIAL EFFUSION; high titers of anti-heart antibodies; low-grade FEVER; LETHARGY; loss of APPETITE; or ABDOMINAL PAIN." [MESH:D011185] synonym: "Postcommissurotomy Syndrome" EXACT [] synonym: "Postcommissurotomy Syndromes" EXACT [] synonym: "Postpericardiotomy Syndromes" EXACT [] xref: EFO:1001404 xref: MESH:D011185 is_a: DOID:114 ! heart disease is_a: DOID:225 ! syndrome is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9007296 name: Right Bundle Branch Block, Familial Isolated Complete alt_id: MIM:113950 xref: MESH:C562759 is_a: DOID:13209 ! right bundle branch block [Term] id: DOID:9007297 name: Perioral Pigmented Follicular Atrophoderma with Milia and Epidermoid Cysts alt_id: MIM:603587 xref: MESH:C566360 is_a: DOID:9005841 ! Epidermal Cyst is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9007298 name: Lymphedema of the Lower Extremities, Recurrent Pneumonia, Bronchiectasis, and Yellowed Nails xref: MESH:C538678 is_a: DOID:0050468 ! yellow nail syndrome [Term] id: DOID:9007299 name: Cataracts, Hearing Impairment, Nephrotic Syndrome, and Enterocolitis xref: MIM:PS301108 is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:83 ! cataract is_a: DOID:9002805 ! Enterocolitis is_a: DOID:9004538 ! Hearing Loss created_by: mtutaj creation_date: 2023-07-07T12:26:07Z [Term] id: DOID:9007300 name: Urinary Incontinence, Urge def: "Involuntary discharge of URINE that is associated with an abrupt and strong desire to void. It is usually related to the involuntary contractions of the detrusor muscle of the bladder (detrusor hyperreflexia or detrusor instability)." [MESH:D053202] synonym: "Urge Incontinence" EXACT [] synonym: "Urinary Reflex Incontinence" EXACT [] xref: EFO:0006865 xref: MESH:D053202 xref: RDO:0007611 is_a: DOID:9006880 ! Urinary Incontinence [Term] id: DOID:9007301 name: Insect Bites and Stings def: "Bites and stings inflicted by insects." [MESH:D007299] synonym: "insect bite" EXACT [] synonym: "insect bites" EXACT [] synonym: "insect sting" EXACT [] synonym: "insect stings" EXACT [] xref: MESH:D007299 is_a: DOID:9002550 ! Bites and Stings [Term] id: DOID:9007302 name: Vitreous Hemorrhage def: "Hemorrhage into the VITREOUS BODY." [MESH:D014823] synonym: "Vitreous Hemorrhages" EXACT [] xref: EFO:0008626 xref: MESH:D014823 xref: RDO:0006814 is_a: DOID:9004938 ! Eye Hemorrhage is_a: DOID:9720 ! vitreous disease [Term] id: DOID:9007303 name: Idiopathic Short Stature, Autosomal alt_id: MIM:604271 synonym: "GHIP" EXACT [] synonym: "GROWTH HORMONE INSENSITIVITY, PARTIAL" EXACT [] synonym: "Growth Hormone, Insensitivity To, Partial" EXACT [] synonym: "partial isolated growth hormone deficiency" EXACT [] xref: MESH:C565805 is_a: DOID:0060870 ! isolated growth hormone deficiency [Term] id: DOID:9007304 name: Singleton Merten Syndrome xref: MESH:C537343 xref: MIM:PS182250 is_a: DOID:0080000 ! muscular disease is_a: DOID:11476 ! osteoporosis is_a: DOID:225 ! syndrome is_a: DOID:520 ! aortic disease is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:9001034 ! Odontodysplasia is_a: DOID:9006332 ! Vascular Calcification [Term] id: DOID:9007305 name: Renal Hypophosphatemia with Intracerebral Calcifications alt_id: MIM:241519 xref: MESH:C565478 is_a: DOID:182 ! calcinosis is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007740 ! Familial Hypophosphatemia [Term] id: DOID:9007306 name: Failed Back Surgery Syndrome def: "A condition of persistent pain and discomfort in the BACK and the LEG following lumbar surgery, often seen in patients enrolled in pain centers." [MESH:D055111] xref: MESH:D055111 is_a: DOID:225 ! syndrome is_a: DOID:9000790 ! Postoperative Complications is_a: DOID:9007923 ! Back Pain [Term] id: DOID:9007307 name: Blue Diaper Syndrome alt_id: MIM:211000 synonym: "Drummond syndrome" EXACT [] synonym: "familial hypercalcemia-nephrocalcinosis-indicanuria syndrome" EXACT [] synonym: "familial hypercalcemia with nephrocalcinosis and indicanuria" EXACT [] xref: GARD:5939 xref: MESH:C536239 xref: ORDO:94086 is_a: DOID:12678 ! hypercalcemia is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9007308 name: Congenital Lobar Emphysema alt_id: MIM:130710 xref: MESH:C535735 is_a: DOID:9675 ! pulmonary emphysema [Term] id: DOID:9007309 name: Craniorhiny alt_id: MIM:123050 xref: MESH:C565144 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007310 name: Foot Diseases def: "Anatomical and functional disorders affecting the foot." [MESH:D005534] synonym: "Foot Disease" EXACT [] xref: MESH:D005534 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:37 ! skin disease [Term] id: DOID:9007311 name: Platelet Factor 3 Deficiency alt_id: MIM:173450 xref: MESH:C566798 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:9007312 name: Ophthalmoplegic Neuromuscular Disorder with Abnormal Mitochondria alt_id: MIM:258470 xref: MESH:C564925 is_a: DOID:0080000 ! muscular disease is_a: DOID:539 ! ophthalmoplegia is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9007313 name: Triphalangeal Thumb with Double Phalanges alt_id: MIM:190500 xref: MESH:C566028 is_a: DOID:9001425 ! Triphalangeal Thumb [Term] id: DOID:9007314 name: Goldblatt Viljoen Syndrome synonym: "Autosomal dominant radial ray hypoplasia syndrome" EXACT [] synonym: "Goldblatt Viljoen radial ray hypoplasia" EXACT [] synonym: "Radial ray hypoplasia with choanal hypoplasia" EXACT [] xref: MESH:C537280 is_a: DOID:225 ! syndrome is_a: DOID:9574 ! choanal atresia is_a: DOID:9840 ! esotropia [Term] id: DOID:9007315 name: Methicillin-Resistant Staphylococcus Aureus Infection def: "These are infections caused by a strain of Staphylococcus aureus that is non-susceptible to the action of the antibiotic methicillin. The mechanism of resistance usually involves modification of penicillin binding proteins" [MESH:D055624] synonym: "infection by MRSA" EXACT [] synonym: "Infection, MRSA" EXACT [] synonym: "methicillin-resistant staphylococcus aureus infectious disease" EXACT [] synonym: "MRSA bacteremia" EXACT [] synonym: "MRSA bacteremias" EXACT [] synonym: "MRSA infection" EXACT [] xref: EFO:0008555 is_a: DOID:9008885 ! Staphylococcal Infections created_by: slaulede creation_date: 2023-02-03T15:09:42Z [Term] id: DOID:9007316 name: Hyalohyphomycosis def: "OPPORTUNISTIC INFECTIONS caused by a heterogeneous group of MITOSPORIC FUNGI with clear (hyalo-) HYPHAE in the host. Common causative agents include ACREMONIUM; ASPERGILLUS; CHRYSOSPORIUM; FUSARIUM; PAECILOMYCES; PENICILLIUM; PSEUDALLESCHERIA; SCEDOSPORIUM; and SCOPULARIOPSIS. Normally a dermatomycoses, it can become invasive in the IMMUNOCOMPROMISED HOST." [MESH:D060605] synonym: "Cutaneous Hyalohyphomycoses" EXACT [] synonym: "Cutaneous Hyalohyphomycosis" EXACT [] synonym: "Disseminated Hyalohyphomycoses" EXACT [] synonym: "Disseminated Hyalohyphomycosis" EXACT [] synonym: "Hyalohyphomycoses" EXACT [] synonym: "Invasive Hyalohyphomycoses" EXACT [] synonym: "Invasive Hyalohyphomycosis" EXACT [] synonym: "Pulmonary Hyalohyphomycoses" EXACT [] synonym: "Pulmonary Hyalohyphomycosis" EXACT [] synonym: "Splenic Hyalohyphomycoses" EXACT [] synonym: "Splenic Hyalohyphomycosis" EXACT [] synonym: "Subcutaneous Hyalohyphomycoses" EXACT [] synonym: "Subcutaneous Hyalohyphomycosis" EXACT [] xref: MESH:D060605 is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:9007317 name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES def: "This disease is an autosomal dominant disorder characterized by mildly to severely impaired intellectual development and, in some patients, movement abnormalities consisting of tremors, cerebellar ataxia, or extrapyramidal symptoms." [MIM:619725] synonym: "KCNN2-RELATED CONDITION" BROAD [] synonym: "NEDMAB" EXACT [] xref: MIM:619725 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008297 ! Motor Disorders created_by: slaulede creation_date: 2022-08-01T09:30:34Z [Term] id: DOID:9007318 name: Rowley-Rosenberg Syndrome alt_id: MIM:268500 synonym: "Growth Retardation, Pulmonary Hypertension, and Amino Aciduria" EXACT [] synonym: "Growth retardation, pulmonary hypertension, and aminoaciduria" EXACT [] xref: MESH:C535874 is_a: DOID:225 ! syndrome is_a: DOID:6432 ! pulmonary hypertension is_a: DOID:9002207 ! Renal Aminoacidurias is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007319 name: Joubert Syndrome 37 def: "An autosomal recessive neurodevelopmental ciliopathy characterized classically by a distinctive hindbrain malformation affecting the midbrain and cerebellum, recognizable as the 'molar tooth sign' on brain imaging. Caused by homozygous or compound heterozygous mutation in the TOGARAM1 gene on chromosome 14q21. (OMIM)" [] synonym: "JBTS37" EXACT [] xref: MIM:619185 is_a: DOID:0050777 ! Joubert syndrome created_by: mtutaj creation_date: 2021-02-23T08:45:29Z [Term] id: DOID:9007320 name: Squamous Intraepithelial Lesions def: "A cytological test finding that shows abnormal lesions of SQUAMOUS EPITHELIAL cells." [MESH:D000081483] synonym: "High-Grade Squamous Intraepithelial Lesions" NARROW [] synonym: "HSIL" NARROW [] synonym: "Low-Grade Squamous Intraepithelial Lesions" NARROW [] synonym: "LSIL" NARROW [] xref: MESH:D000081483 is_a: DOID:9002760 ! Morphological and Microscopic Findings created_by: slaulede creation_date: 2020-02-07T13:26:21Z [Term] id: DOID:9007321 name: knee fractures def: "These are traumatic breaks in one or more of the bones that compose the knee joint." [NCI:C27201] synonym: "knee fracture" EXACT [] xref: EFO:0009617 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9008290 ! Knee Injuries created_by: slaulede creation_date: 2023-02-02T15:00:43Z [Term] id: DOID:9007322 name: Polydysspondyly xref: MESH:C565150 xref: RDO:0013875 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007323 name: Parasitic Infection caused by Dracunculus Medinensis xref: MESH:C548841 xref: RDO:0004678 is_a: DOID:14418 ! dracunculiasis [Term] id: DOID:9007324 name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT, ABSENT LANGUAGE, CEREBRAL HYPOMYELINATION, AND BRAIN ATROPHY def: "This disease is characterized by the onset of these features soon after birth or in early infancy. Affected individuals make almost no developmental progress, are unable to sit or walk, do not acquire speech, have poor visual fixation, and show poor overall growth associated with feeding problems. Brain imaging shows hypomyelination, thin corpus callosum, and cerebral and cerebellar atrophy." [MIM:619972] synonym: "NEDMLHB" EXACT [] xref: MIM:619972 xref: NCI:C192636 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9004462 ! Atrophy is_a: DOID:9008095 ! Hereditary Central Nervous System Demyelinating Diseases is_a: DOID:9008297 ! Motor Disorders is_a: DOID:93 ! language disorder created_by: slaulede creation_date: 2022-12-15T10:38:32Z [Term] id: DOID:9007325 name: Cardio-Renal Syndrome def: "Condition where a primary dysfunction of either heart or kidney results in failure of the other organ (e.g., HEART FAILURE with worsening RENAL INSUFFICIENCY)." [MESH:D059347] synonym: "Cardiorenal Syndrome" EXACT [] synonym: "Cardio-Renal Syndromes" EXACT [] synonym: "Cardiorenal Syndromes" EXACT [] synonym: "Reno Cardiac Syndrome" EXACT [] synonym: "Renocardiac Syndrome" EXACT [] synonym: "Reno-Cardiac Syndromes" EXACT [] synonym: "Renocardiac Syndromes" EXACT [] xref: MESH:D059347 is_a: DOID:1074 ! kidney failure is_a: DOID:225 ! syndrome is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:9007326 name: Radiation Sensitivity Chromosome Instability Syndrome, Autosomal Dominant alt_id: MIM:605463 xref: MESH:C565326 xref: RDO:0013996 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9003882 ! Chromosomal Instability [Term] id: DOID:9007327 name: Cardiofacioneurodevelopmental Syndrome synonym: "CFNDS" EXACT [] xref: MIM:619123 is_a: DOID:10907 ! microcephaly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2020-12-10T10:18:25Z [Term] id: DOID:9007328 name: Multiple Pulmonary Nodules def: "A number of small lung lesions characterized by small round masses of 2- to 3-mm in diameter. They are usually detected by chest CT scans (COMPUTED TOMOGRAPHY, X-RAY). Such nodules can be associated with metastases of malignancies inside or outside the lung, benign granulomas, or other lesions." [MESH:D055613] synonym: "Multiple Pulmonary Nodule" EXACT [] xref: MESH:D055613 is_a: DOID:9005172 ! Lung Neoplasms [Term] id: DOID:9007329 name: Human Viral Hepatitis alt_id: RDO:0005321 def: "INFLAMMATION of the LIVER in humans due to infection by VIRUSES. There are several significant types of human viral hepatitis with infection caused by enteric-transmission (HEPATITIS A; HEPATITIS E) or blood transfusion (HEPATITIS B; HEPATITIS C; and HEPATITIS D)." [MESH:D006525] synonym: "viral human hepatitis infection" EXACT [] xref: EFO:0004196 xref: MESH:D006525 is_a: DOID:1884 ! viral hepatitis [Term] id: DOID:9007330 name: Monomelic Amyotrophy alt_id: MIM:602440 synonym: "Hirayama disease" EXACT [] synonym: "juvenile nonprogressive spinal muscular atrophy" EXACT [] xref: EFO:1001989 xref: MESH:C538253 is_a: DOID:0060160 ! childhood spinal muscular atrophy [Term] id: DOID:9007331 name: Alkalosis def: "A pathological condition that removes acid or adds base to the body fluids." [MESH:D000471] synonym: "Alkaloses" EXACT [] xref: MESH:D000471 is_a: DOID:9006795 ! Acid-Base Imbalance [Term] id: DOID:9007332 name: Progressive Diaphyseal Dysplasia 1 alt_id: RDO:0004389 synonym: "DPD1" EXACT [] xref: MESH:C538411 is_a: DOID:4997 ! Camurati-Engelmann disease [Term] id: DOID:9007333 name: 6q+ Syndrome, Partial synonym: "Chromosome 6, partial trisomy 6q" EXACT [] synonym: "Chromosome 6, Trisomy 6q2" EXACT [] synonym: "Distal Duplication 6q" EXACT [] synonym: "Trisomy 6q, Partial" EXACT [] synonym: "Trisomy 6q Syndrome, Partial" EXACT [] xref: MESH:C537810 xref: RDO:0003714 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007334 name: Small-For-Size Syndrome def: "Any circumstance where there is postoperative liver failure or dysfunction in a patient who has had liver resection or partial or small graft liver transplantation." [] is_a: DOID:225 ! syndrome is_a: DOID:9004250 ! Hepatic Insufficiency [Term] id: DOID:9007335 name: Urinary Fistula def: "An abnormal passage in any part of the URINARY TRACT between itself or with other organs." [MESH:D014548] synonym: "Urinary Fistulas" EXACT [] xref: MESH:D014548 is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9007343 ! Fistula [Term] id: DOID:9007336 name: Jet Lag Syndrome def: "A chronobiologic disorder resulting from rapid travel across a number of time zones, characterized by insomnia or hypersomnolence, fatigue, behavioral symptoms, headaches, and gastrointestinal disturbances. (From Cooper, Sleep, 1994, pp593-8)" [MESH:D020179] synonym: "Jet Lag Syndromes" EXACT [] synonym: "Time Zone Change Syndrome" EXACT [] synonym: "Time Zone Syndrome" EXACT [] synonym: "Time Zone Syndromes" EXACT [] xref: MESH:D020179 xref: RDO:0007328 is_a: DOID:0050628 ! advanced sleep phase syndrome is_a: DOID:225 ! syndrome is_a: DOID:9004980 ! Chronobiology Disorders [Term] id: DOID:9007337 name: Teratogenesis def: "The formation of CONGENITAL ABNORMALITIES." [MESH:D064793] xref: MESH:D064793 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9007338 name: Congenital Ectodermal Dysplasia with Hearing Loss synonym: "Mikaelian syndrome" EXACT [] xref: MESH:C535757 xref: RDO:0001047 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9006836 ! Contracture [Term] id: DOID:9007339 name: Alphavirus Infections def: "Virus diseases caused by members of the ALPHAVIRUS genus of the family TOGAVIRIDAE." [MESH:D018354] synonym: "Alpha Virus Infection" EXACT [] synonym: "Alphavirus Infection" EXACT [] synonym: "Alpha Virus Infections" EXACT [] synonym: "Alphavirus infectious disease" EXACT [] xref: EFO:0007142 xref: MESH:D018354 xref: RDO:0001293 is_a: DOID:9002987 ! Togaviridae Infections [Term] id: DOID:9007340 name: Chromosome 14 Trisomy synonym: "Trisomy 14" EXACT [] xref: MESH:C535488 xref: NCI:C116344 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007341 name: Persistence of Pupillary Membrane alt_id: MIM:178900 xref: MESH:C562700 is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9007342 name: Neonatal Systemic Lupus Erythematosus synonym: "Neonatal lupus" EXACT [] synonym: "Neonatal lupus syndrome" EXACT [] xref: EFO:0004537 xref: MESH:C536397 is_a: DOID:9074 ! systemic lupus erythematosus [Term] id: DOID:9007343 name: Fistula def: "Abnormal communication most commonly seen between two internal organs, or between an internal organ and the surface of the body." [MESH:D005402] synonym: "Fistulas" EXACT [] xref: MESH:D005402 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9007345 name: Goat Diseases def: "Diseases of the domestic or wild goat of the genus Capra." [MESH:D015511] synonym: "Caprine Disease" EXACT [] synonym: "Caprine Diseases" EXACT [] synonym: "Goat Disease" EXACT [] xref: MESH:D015511 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9007346 name: Cachexia def: "General ill health, malnutrition, and weight loss, usually associated with chronic disease." [MESH:D002100] xref: MESH:D002100 is_a: DOID:9000498 ! Emaciation [Term] id: DOID:9007347 name: Rickettsia Infections def: "Infections by the genus RICKETTSIA." [MESH:D012282] synonym: "Rickettsia Infection" EXACT [] xref: EFO:1001162 xref: MESH:D012282 is_a: DOID:9000458 ! Rickettsiaceae Infections [Term] id: DOID:9007348 name: Delayed Graft Function def: "General dysfunction of an organ occurring immediately following its transplantation. The term most frequently refers to renal dysfunction following KIDNEY TRANSPLANTATION." [MESH:D051799] xref: MESH:D051799 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9007349 name: Agonadism, XY, with Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations xref: MESH:C563429 xref: RDO:0012688 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:14448 ! 46,XY sex reversal is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007350 name: Vascular Purpura xref: MESH:C537256 is_a: DOID:11123 ! Henoch-Schoenlein purpura [Term] id: DOID:9007352 name: Congenital Muscular Dystrophy due to Partial LAMA2 Deficiency alt_id: RDO:0013324 synonym: "congenital muscular dystrophy, LAMA2-related" BROAD [] xref: MESH:C564317 is_a: DOID:0110636 ! congenital merosin-deficient muscular dystrophy 1A [Term] id: DOID:9007354 name: Fetomaternal Transfusion def: "Transplacental passage of fetal blood into the circulation of the maternal organism. (Dorland, 27th ed)" [MESH:D005331] synonym: "Fetomaternal Hemorrhage" EXACT [] synonym: "Fetomaternal Hemorrhages" EXACT [] synonym: "Fetomaternal Transfusions" EXACT [] xref: EFO:1001794 xref: MESH:D005331 is_a: DOID:11244 ! neonatal anemia [Term] id: DOID:9007355 name: Hashimoto Disease alt_id: MIM:140300 def: "Chronic autoimmune thyroiditis, characterized by the presence of high serum thyroid AUTOANTIBODIES; GOITER; and HYPOTHYROIDISM." [MESH:D050031] synonym: "chronic lymphocytic thyroiditides" EXACT [] synonym: "Chronic Lymphocytic Thyroiditis" EXACT [] synonym: "Hashimoto's disease" EXACT [] synonym: "Hashimoto's Struma" EXACT [] synonym: "Hashimoto's syndrome" EXACT [] synonym: "Hashimoto's Syndromes" EXACT [] synonym: "Hashimotos Disease" EXACT [] synonym: "Hashimotos Syndrome" EXACT [] synonym: "Hashimoto Struma" EXACT [] synonym: "Hashimoto Syndrome" EXACT [] synonym: "Hashimoto Thyroiditides" EXACT [] synonym: "Hashimoto thyroiditis" EXACT [] synonym: "HT" EXACT [] synonym: "HYPOTHYROIDISM, AUTOIMMUNE THYROID AUTOANTIBODIES" NARROW [] xref: EFO:0003779 xref: MESH:D050031 xref: NCI:C27191 is_a: DOID:7188 ! autoimmune thyroiditis is_a: DOID:9008207 ! Chronic Thyroiditis [Term] id: DOID:9007356 name: Eczema def: "A pruritic papulovesicular dermatitis occurring as a reaction to many endogenous and exogenous agents (Dorland, 27th ed)." [MESH:D004485] synonym: "Eczemas" EXACT [] synonym: "Eczematous Dermatitides" EXACT [] synonym: "Eczematous Dermatitis" EXACT [] xref: MESH:D004485 xref: NCI:C3001 is_a: DOID:2723 ! dermatitis is_a: DOID:9004383 ! Eczematous Skin Diseases [Term] id: DOID:9007358 name: Shaken Baby Syndrome def: "Brain injuries resulted from vigorous shaking of an infant or young child held by the chest, shoulders, or extremities causing extreme cranial acceleration. It is characterized by the intracranial and intraocular hemorrhages with no evident external trauma. Serious cases may result in death." [MESH:D038642] xref: EFO:1001423 xref: MESH:D038642 is_a: DOID:225 ! syndrome is_a: DOID:9000998 ! Brain Injuries [Term] id: DOID:9007359 name: Anonychia-Ectrodactyly alt_id: MIM:106900 xref: MESH:C566277 is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9007361 name: Hereditary Angioedema 5 def: "An autosomal dominant disorder characterized by localized and self-limiting edema of the subcutaneous or submucosal tissue due to an episodic increase in vascular permeability. Caused by heterozygous mutation in the ANGPT1 gene on chromosome 8q23. (OMIM)" [] synonym: "HAE5" EXACT [] xref: MIM:619361 is_a: DOID:14735 ! hereditary angioedema created_by: mtutaj creation_date: 2021-06-11T12:02:10Z [Term] id: DOID:9007362 name: Myopia 16 alt_id: MIM:612554 synonym: "MYOPIA 16, AUTOSOMAL DOMINANT" EXACT [] synonym: "MYP16" EXACT [] xref: MESH:C567259 is_a: DOID:11830 ! myopia [Term] id: DOID:9007363 name: Bronchogenic Cyst def: "A usually spherical cyst, arising as an embryonic out-pouching of the foregut or trachea. It is generally found in the mediastinum or lung and is usually asymptomatic unless it becomes infected." [MESH:D001994] synonym: "Bronchial Cyst" EXACT [] synonym: "Bronchial Cysts" EXACT [] synonym: "Bronchogenic Cysts" EXACT [] xref: MESH:D001994 is_a: DOID:1176 ! bronchial disease is_a: DOID:9007583 ! Cysts is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:9007364 name: Mouth Neoplasms def: "Tumors or cancer of the MOUTH." [MESH:D009062] synonym: "Cancer of Mouth" EXACT [] synonym: "Cancer of the Mouth" EXACT [] synonym: "MALIGNANT TUMOR OF FLOOR OF MOUTH" NARROW [] synonym: "Mouth Cancer" EXACT [] synonym: "Mouth Cancers" EXACT [] synonym: "Mouth Neoplasm" EXACT [] synonym: "Oral Cancer" EXACT [] synonym: "Oral Cancers" EXACT [] synonym: "Oral Neoplasm" EXACT [] synonym: "Oral Neoplasms" EXACT [] xref: EFO:0003868 xref: MESH:D009062 is_a: DOID:403 ! mouth disease is_a: DOID:9006169 ! Head and Neck Neoplasms [Term] id: DOID:9007365 name: Arrhinia synonym: "congenital absence of the nose" EXACT [] synonym: "nose agenesia" EXACT [] xref: MESH:C537438 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9007366 name: Pulmonary Artery Stenosis alt_id: RDO:0016078 def: "Narrowing of the PULMONARY ARTERIES." [MESH:D000071079] synonym: "Pulmonary Artery Stenoses" EXACT [] xref: MESH:D000071079 is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:9007367 name: Septic Peritonitis def: "An inflammatory condition of the peritoneum that occurs secondary to microbial contamination." [] synonym: "Acute Septic Peritonitis" NARROW [] synonym: "Chronic Septic Peritonitis" NARROW [] xref: EFO:0002623 is_a: DOID:8283 ! peritonitis [Term] id: DOID:9007368 name: Continuous Muscle Fiber Activity, Hereditary xref: MESH:C563545 xref: RDO:0012773 is_a: DOID:9003935 ! Myokymia [Term] id: DOID:9007369 name: Microcephaly, Macrotia, and Mental Retardation alt_id: MIM:602555 xref: MESH:C566525 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly [Term] id: DOID:9007370 name: Child Behavior Disorders def: "Disturbances considered to be pathological based on age and stage appropriateness, e.g., conduct disturbances and anaclitic depression. This concept does not include psychoneuroses, psychoses, or personality disorders with fixed patterns." [MESH:D002653] xref: MESH:D002653 xref: RDO:0000766 is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:9007371 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES def: "An autosomal recessive complex neurologic disorder characterized by global developmental delay with impaired intellectual development and language delay." [MIM:619150] synonym: "IDDPADS" EXACT [] xref: MIM:619150 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:936 ! brain disease created_by: slaulede creation_date: 2021-02-15T10:18:21Z [Term] id: DOID:9007372 name: Eructation def: "The ejection of gas or air through the mouth from the stomach." [MESH:D004884] synonym: "Belching" EXACT [] synonym: "Belchings" EXACT [] synonym: "Eructations" EXACT [] xref: MESH:D004884 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9007373 name: Left Ventricular Outflow Obstruction def: "Occlusion of the outflow tract in the LEFT VENTRICLE of the heart." [] synonym: "Dynamic Left Ventricular Outflow Tract Obstruction" EXACT [] synonym: "Dynamic LVOT Obstruction" EXACT [] synonym: "Left Ventricular Outflow Tract Obstruction" EXACT [] synonym: "LVOT Obstruction" EXACT [] xref: MESH:D000092242 is_a: DOID:9004319 ! Ventricular Outflow Obstruction created_by: mtutaj creation_date: 2022-12-12T14:35:57Z [Term] id: DOID:9007374 name: Benign Conjunctival Neoplasm def: "This is an abnormal growth of the cells of the conjunctiva without malignant characteristics." [NCI:C3622] synonym: "benign conjunctiva neoplasm" EXACT [] synonym: "benign conjunctiva tumor" EXACT [] xref: EFO:1000110 is_a: DOID:9008245 ! Conjunctival Neoplasms created_by: slaulede creation_date: 2022-10-13T14:11:35Z [Term] id: DOID:9007375 name: Hypergonadotropic Hypogonadism and Partial Alopecia alt_id: MIM:241090 xref: MESH:C567109 is_a: DOID:0090070 ! hypogonadotropic hypogonadism is_a: DOID:987 ! alopecia [Term] id: DOID:9007376 name: Phenol Sulfotransferase Deficiency xref: MESH:C537895 xref: RDO:0003807 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9007377 name: Achromatopsia 5 xref: MESH:C567759 xref: NCI:C164226 is_a: DOID:13911 ! achromatopsia is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9007378 name: Subphrenic Abscess def: "Accumulation of purulent EXUDATES beneath the DIAPHRAGM, also known as upper abdominal abscess. It is usually associated with PERITONITIS or postoperative infections." [MESH:D013369] synonym: "Subdiaphragmatic Abscess" EXACT [] synonym: "Subdiaphragmatic Abscesses" EXACT [] synonym: "Subphrenic Abscesses" EXACT [] xref: EFO:1001854 xref: MESH:D013369 is_a: DOID:8283 ! peritonitis is_a: DOID:9008115 ! Abdominal Abscess [Term] id: DOID:9007379 name: Idiopathic Intracranial Hypertension with Papilledema xref: MESH:C531795 is_a: DOID:10763 ! hypertension is_a: DOID:11459 ! pseudotumor cerebri [Term] id: DOID:9007380 name: Congenital Erythroderma with Palmoplantar Keratoderma, Hypotrichosis, and Hyper-IgE synonym: "DSG1-RELATED CONDITION" BROAD [] synonym: "EPKHE" EXACT [] synonym: "SAM SYNDROME" EXACT [] synonym: "SEVERE DERMATITIS, MULTIPLE ALLERGIES, AND METABOLIC WASTING SYNDROME" EXACT [] xref: MIM:615508 is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:4535 ! hypotrichosis is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9006215 ! Exfoliative Dermatitis is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007381 name: Pili Multigemini synonym: "Compound hairs" EXACT [] xref: MESH:C537188 is_a: DOID:421 ! hair disease [Term] id: DOID:9007382 name: Zori Stalker Williams Syndrome synonym: "Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails" EXACT [] synonym: "Pectus excavatum, macrocephaly and dysplastic nails" EXACT [] xref: MESH:C536728 xref: RDO:0002391 is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9001510 ! Funnel Chest is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9007383 name: Chemical and Drug Induced Liver Injury alt_id: RDO:0007742 def: "A spectrum of clinical liver diseases ranging from mild biochemical abnormalities to ACUTE LIVER FAILURE, caused by drugs, drug metabolites, herbal and dietary supplements and chemicals from the environment." [MESH:D056486] synonym: "chemically-induced liver toxicities" EXACT [] synonym: "Chemically Induced Liver Toxicity" EXACT [] synonym: "Drug Induced Acute Liver Injury" EXACT [] synonym: "Drug Induced Liver Disease" EXACT [] synonym: "Drug-Induced Liver Diseases" EXACT [] synonym: "Drug-Induced Liver Injuries" EXACT [] synonym: "Drug Induced Liver Injury" EXACT [] synonym: "Drug-induced liver injury due to flucloxacillin" NARROW [] synonym: "hepatotoxicity" EXACT [] synonym: "toxic hepatitides" EXACT [] synonym: "Toxic Hepatitis" EXACT [] xref: EFO:0004228 xref: EFO:0011052 xref: MESH:D056486 xref: NCI:C84427 is_a: DOID:9000046 ! Poisoning is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions is_a: DOID:9008691 ! Liver Injury [Term] id: DOID:9007384 name: Microcephaly Pontocerebellar Hypoplasia Dyskinesia xref: MESH:C537543 is_a: DOID:10907 ! microcephaly is_a: DOID:14784 ! olivopontocerebellar atrophy is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9007385 name: Mitochondrial Encephalopathy synonym: "ENCEPHALOPATHY, FAMILIAL PROGRESSIVE NECROTIZING" NARROW [] xref: MESH:C538525 is_a: DOID:890 ! mitochondrial encephalomyopathy [Term] id: DOID:9007386 name: Congenital Lower Urinary Tract Obstruction def: "A disease characterized by anatomic blockage of bladder outflow due to urethral stenosis." [MIM:618612] synonym: "LUTO" EXACT [] xref: MIM:618612 is_a: DOID:12577 ! urethral obstruction is_a: DOID:2983 ! anuria created_by: slaulede creation_date: 2019-11-12T14:03:36Z [Term] id: DOID:9007387 name: Oligodontia-Colorectal Cancer Syndrome alt_id: MIM:608615 alt_id: RDO:0013033 synonym: "AXIN2-RELATED ATTENUATED FAMILIAL ADENOMATOUS POLYPOSIS" NARROW [] synonym: "AXIN2-RELATED DISORDER" BROAD [] synonym: "ODCRCS" EXACT [] synonym: "Tooth Agenesis-Colorectal Cancer Syndrome" EXACT [] xref: MESH:C563898 is_a: DOID:13714 ! anodontia is_a: DOID:225 ! syndrome is_a: DOID:9256 ! colorectal cancer [Term] id: DOID:9007388 name: Heterochromia Iridis alt_id: MIM:142500 synonym: "asymmetry in the pigmentation of the irides" EXACT [] synonym: "pigmentary abnormality of the anterior segment of the eye" EXACT [] xref: MESH:C538115 is_a: DOID:10123 ! pigmentation disease is_a: DOID:240 ! iris disease [Term] id: DOID:9007389 name: Acute Tubulointerstitial Nephritis xref: MESH:C564356 xref: RDO:0013351 is_a: DOID:1063 ! interstitial nephritis [Term] id: DOID:9007390 name: Recurrent Metabolic Crises with Variable Encephalomyopathic Features and Neurologic Regression def: "Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation. MECREN is caused by homozygous mutation in the SLC25A42 gene on chromosome 19p13. (OMIM)" [] synonym: "MECREN" EXACT [] xref: EFO:0010255 xref: MIM:618416 is_a: DOID:0050758 ! metabolic acidosis is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn created_by: gthayman creation_date: 2019-06-11T14:58:22Z [Term] id: DOID:9007391 name: Inflammatory Bowel Disease 31 def: "This disease is characterized by the presence of ulcers throughout the colon and rectum with normal-appearing ileum. Affected infants present with recurrent bloody diarrhea with anemia and leukocytosis, with extensive lymphoplasmocytic infiltration, cryptitis, and apoptotic crypt abcesses throughout the colon and rectum. Infantile bowel disease has also been referred to as very-early-onset IBD (VEOIBD)." [MIM:619398] synonym: "IBD31" EXACT [] synonym: "Inflammatory bowel disease (infantile ulcerative colitis) 31" EXACT [] synonym: "INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE" EXACT [] xref: MIM:619398 is_a: DOID:0050589 ! inflammatory bowel disease created_by: mtutaj creation_date: 2021-06-24T14:03:40Z [Term] id: DOID:9007392 name: Hyperzincemia with Functional Zinc Depletion synonym: "AICZC" EXACT [] synonym: "autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia" EXACT [] synonym: "hyperzincemia and hypercalprotectinemia" EXACT [] synonym: "HZHC syndrome" EXACT [] xref: MESH:C566595 xref: MIM:601979 xref: MONDO:0011174 is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:9007393 name: Acute Cholecystitis def: "Acute inflammation of the GALLBLADDER wall. It is characterized by the presence of ABDOMINAL PAIN; FEVER; and LEUKOCYTOSIS. Gallstone obstruction of the CYSTIC DUCT is present in approximately 90% of the cases." [MESH:D041881] xref: EFO:1001289 xref: MESH:D041881 is_a: DOID:1949 ! cholecystitis [Term] id: DOID:9007394 name: Erythroplasia def: "A condition of the mucous membrane characterized by erythematous papular lesions. (Dorland, 27th ed)" [MESH:D004919] synonym: "Erythroplasias" EXACT [] xref: EFO:1001786 xref: MESH:D004919 is_a: DOID:0060071 ! pre-malignant neoplasm [Term] id: DOID:9007395 name: Monocarboxylate Transporter 1 Deficiency synonym: "MCT1D" EXACT [] synonym: "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL DOMINANT" NARROW [] synonym: "MONOCARBOXYLATE TRANSPORTER 1 DEFICIENCY, AUTOSOMAL RECESSIVE" NARROW [] xref: MIM:616095 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9006253 ! Ketosis [Term] id: DOID:9007396 name: Atrioventricular Septal Defect 4 synonym: "AVSD4" EXACT [] xref: MIM:614430 is_a: DOID:0050651 ! atrioventricular septal defect [Term] id: DOID:9007397 name: Progressive Transformation of Germinal Centers xref: MESH:C548085 is_a: DOID:0060058 ! lymphoma is_a: DOID:9007608 ! Neoplastic Cell Transformation [Term] id: DOID:9007398 name: Phospholipidosis def: "Conditions characterized by abnormal phospholipid deposition due to disturbance in lipid metabolism." [] synonym: "phospholipidoses" EXACT [] is_a: DOID:9455 ! lipid storage disease created_by: rgd creation_date: 2016-07-11T00:00:00Z [Term] id: DOID:9007399 name: Female Genital Neoplasms def: "Tumor or cancer of the female reproductive tract (GENITALIA, FEMALE)." [MESH:D005833] synonym: "Female genital neoplasm" EXACT [] synonym: "Gynecologic neoplasm" EXACT [] synonym: "Gynecologic neoplasms" EXACT [] xref: EFO:1001331 xref: MESH:D005833 is_a: DOID:229 ! female reproductive system disease is_a: DOID:9007150 ! Urogenital Neoplasms [Term] id: DOID:9007400 name: Lip Neoplasms def: "Tumors or cancer of the LIP." [MESH:D008048] synonym: "Lip Neoplasm" EXACT [] xref: MESH:D008048 is_a: DOID:9007364 ! Mouth Neoplasms is_a: DOID:9297 ! lip disease [Term] id: DOID:9007401 name: Viral Hemorrhagic Fevers def: "A group of viral diseases of diverse etiology but having many similar clinical characteristics; increased capillary permeability, leukopenia, and thrombocytopenia are common to all. Hemorrhagic fevers are characterized by sudden onset, fever, headache, generalized myalgia, backache, conjunctivitis, and severe prostration, followed by various hemorrhagic symptoms. Hemorrhagic fever with kidney involvement is HEMORRHAGIC FEVER WITH RENAL SYNDROME." [MESH:D006482] synonym: "mosquito-borne hemorragic fever" NARROW [] synonym: "Viral Hemorrhagic Fever" EXACT [] xref: EFO:0009575 xref: MESH:D006482 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9007402 name: Gliosis def: "The production of a dense fibrous network of neuroglia; includes astrocytosis, which is a proliferation of astrocytes in the area of a degenerative lesion." [MESH:D005911] synonym: "Astrocytosis" EXACT [] synonym: "astrogliosis" EXACT [] synonym: "Glioses" EXACT [] synonym: "reactive astrogliosis" EXACT [] xref: MESH:D005911 xref: RDO:0005678 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9007403 name: Radiation Induced Brachial Plexopathy synonym: "Radiation induced brachial neuritis" EXACT [] synonym: "Radiation injury to the brachial plexus" EXACT [] xref: MESH:C536265 is_a: DOID:3690 ! brachial plexus neuropathy is_a: DOID:9000111 ! Radiation Injuries [Term] id: DOID:9007404 name: Cheilitis Glandularis alt_id: MIM:118330 xref: MESH:C535921 is_a: DOID:10303 ! sialadenitis is_a: DOID:1762 ! cheilitis [Term] id: DOID:9007405 name: Landy Donnai Syndrome synonym: "Hydrops, ectrodactyly, syndactyly, duplication of the great toes" EXACT [] xref: MESH:C537266 xref: RDO:0003071 is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9000197 ! Edema [Term] id: DOID:9007406 name: Distal Renal Tubular Acidosis xref: MIM:PS179800 is_a: DOID:14219 ! renal tubular acidosis created_by: mtutaj creation_date: 2020-10-22T15:38:47Z [Term] id: DOID:9007407 name: Familial Pars Planitis xref: MESH:C531774 is_a: DOID:12731 ! pars planitis [Term] id: DOID:9007408 name: Dental Focal Infection def: "Secondary or systemic infections due to dissemination throughout the body of microorganisms whose primary focus of infection lies in the periodontal tissues." [MESH:D005491] synonym: "Dental Focal Infections" EXACT [] xref: MESH:D005491 is_a: DOID:1091 ! tooth disease is_a: DOID:9003338 ! Focal Infection [Term] id: DOID:9007409 name: Microcephaly, Epilepsy, and Diabetes Syndrome 2 def: "Characterized by severe microcephaly and neonatal/early-onset epilepsy and diabetes. Caused by homozygous mutation in the YIPF5 gene on chromosome 5q31. (OMIM)" [] synonym: "MEDS2" EXACT [] xref: MIM:619278 is_a: DOID:9002791 ! Microcephaly, Epilepsy, and Diabetes Syndrome created_by: mtutaj creation_date: 2021-04-19T18:24:36Z [Term] id: DOID:9007410 name: Temple-Baraitser syndrome synonym: "KCNH1 ASSOCIATED DISORDER" BROAD [] synonym: "KCNH1-RELATED CONDITION" BROAD [] synonym: "Mental Retardation, Severe, And Absent Nails Of Hallux And Pollex" EXACT [] synonym: "TMBTS" EXACT [] xref: EFO:0009062 xref: GARD:9441 xref: MESH:C567516 xref: MIM:611816 xref: MONDO:0012735 xref: ORDO:420561 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9007411 name: Sleep Arousal Disorders def: "Sleep disorders characterized by impaired arousal from the deeper stages of sleep (generally stage III or IV sleep)." [MESH:D020921] synonym: "Confusional Arousal" EXACT [] synonym: "Confusional Arousals" EXACT [] synonym: "Sleep Arousal Disorder" EXACT [] xref: MESH:D020921 xref: RDO:0006592 is_a: DOID:9004040 ! Parasomnias [Term] id: DOID:9007412 name: Mitchell-Riley Syndrome alt_id: MIM:615710 synonym: "MTCHRS" EXACT [] synonym: "neonatal diabetes with pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia" EXACT [] xref: MESH:C567570 is_a: DOID:0060262 ! gallbladder disease is_a: DOID:10486 ! intestinal atresia is_a: DOID:225 ! syndrome is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9007413 name: Prostate Cancer, Hereditary, 10 alt_id: MIM:611100 synonym: "HPC10" EXACT [] xref: MESH:C567011 is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9007414 name: Judge Misch Wright Syndrome synonym: "Dry skin, photophobia hyperkeratosis, abnormal fingernails" EXACT [] synonym: "Keratodermia palmoplantar periorificial" EXACT [] synonym: "Palmoplantar and perioroficial keratoderma with corneal epithelial dysplasia" EXACT [] xref: MESH:C537692 xref: RDO:0003573 is_a: DOID:225 ! syndrome is_a: DOID:2566 ! corneal dystrophy is_a: DOID:3134 ! facial dermatosis is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:4123 ! nail disease [Term] id: DOID:9007415 name: Parkinson's Disease 26 synonym: "PARK26" EXACT [] synonym: "Parkinson disease 26, autosomal dominant, susceptibility to" EXACT [] xref: MIM:620923 is_a: DOID:14330 ! Parkinson's disease created_by: tutajm creation_date: 2024-08-23T11:53:27Z [Term] id: DOID:9007416 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, NYSTAGMUS, AND SEIZURES def: "This disease is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia with poor or absent motor skills, feeding difficulties with poor overall growth, microcephaly, mild dysmorphic features, and early-onset seizures." [MIM:619876] synonym: "NEDMHS" EXACT [] xref: MIM:619876 is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9649 ! congenital nystagmus created_by: slaulederkind creation_date: 2024-03-26T10:24:37Z [Term] id: DOID:9007417 name: Pseudomonas Infections def: "Infections with bacteria of the genus PSEUDOMONAS." [MESH:D011552] synonym: "Pseudomonas aeruginosa CF5 infection" NARROW [] synonym: "Pseudomonas Infection" EXACT [] xref: EFO:0001076 xref: EFO:0001077 xref: MESH:D011552 xref: RDO:0002824 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9007418 name: Somnambulism alt_id: MIM:613938 def: "A parasomnia characterized by a partial arousal that occurs during stage IV of non-REM sleep. Affected individuals exhibit semipurposeful behaviors such as ambulation and are difficult to fully awaken. Children are primarily affected, with a peak age range of 4-6 years." [MESH:D013009] synonym: "nocturnal wandering" EXACT [] synonym: "PARASOMNIA, SLEEP TERRORS TYPE" NARROW [] synonym: "PARASOMNIA, SLEEPWALKING TYPE" EXACT [] synonym: "PSMNST" NARROW [] synonym: "PSMNSW" EXACT [] synonym: "Sleep Walking" EXACT [] synonym: "Sleepwalking" EXACT [] synonym: "Sleep Walking Disorder" EXACT [] synonym: "sleep walking disorders" EXACT [] xref: MESH:D013009 is_a: DOID:9007411 ! Sleep Arousal Disorders [Term] id: DOID:9007419 name: Blood-Borne Infections def: "Diseases due to or propagated by body fluids from hosts whose BLOOD has been contaminated with pathogens. (MESH)" [] synonym: "Blood Borne Disease" EXACT [] synonym: "Blood Borne Diseases" EXACT [] synonym: "Blood-Borne Infection" EXACT [] xref: MESH:D000086982 is_a: DOID:0050117 ! disease by infectious agent created_by: mtutaj creation_date: 2020-12-21T20:42:31Z [Term] id: DOID:9007420 name: Liddle Syndrome 2 synonym: "LIDLS2" EXACT [] xref: MIM:618114 is_a: DOID:0050477 ! Liddle syndrome created_by: slaulede creation_date: 2018-10-11T11:45:22Z [Term] id: DOID:9007421 name: Visceral Heterotaxy 8, Autosomal def: "An autosomal recessive developmental disorder characterized by visceral situs inversus associated with complex congenital heart malformations caused by defects in the normal left-right asymmetric positioning of internal organs. (OMIM)" [] synonym: "HTX8" RELATED [] synonym: "PKD1L1-RELATED CONDITION" EXACT [] xref: MIM:617205 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:9007422 name: Decapitation def: "Traumatic or experimentally induced separation of the head from the body in an animal or human." [MESH:D049248] synonym: "Decapitations" EXACT [] xref: MESH:D049248 is_a: DOID:9000656 ! Penetrating Wounds [Term] id: DOID:9007423 name: Arhinia, Choanal Atresia, and Microphthalmia alt_id: MIM:603457 synonym: "arhinia, choanal atresia, microphthalmia" EXACT [] synonym: "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" EXACT [] synonym: "BAMS" EXACT [] synonym: "Bosma arhinia microphthalmia syndrome" EXACT [] synonym: "SMCHD1-RELATED CONDITION" BROAD [] xref: MESH:C537429 is_a: DOID:10629 ! microphthalmia is_a: DOID:9574 ! choanal atresia [Term] id: DOID:9007424 name: Mitochondrial Myopathy, and Ataxia synonym: "mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome" EXACT [] synonym: "MMYAT" EXACT [] synonym: "MSTO1-RELATED DISORDER" EXACT [] xref: MIM:617675 xref: MONDO:0044714 xref: ORDO:502423 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:699 ! mitochondrial myopathy created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:9007425 name: Diffuse Panbronchiolitis alt_id: MIM:604809 synonym: "DPB" EXACT [] synonym: "PBLT" EXACT [] xref: MESH:C536174 xref: NCI:C202116 xref: RDO:0001646 is_a: DOID:2942 ! bronchiolitis is_a: DOID:9000109 ! Haemophilus Infections [Term] id: DOID:9007426 name: Chromosome 17, Trisomy 17q22 synonym: "Duplication 17q" EXACT [] synonym: "Trisomy 17q22" EXACT [] xref: MESH:C536579 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007427 name: ZIEGLER-HUANG SYNDROME def: "This disease is a bone marrow failure syndrome characterized by severe growth retardation responsive to growth hormone treatment, testicular hypoplasia, and progressive bone marrow failure, with thrombocytopenia and macrocytosis developing in childhood." [MIM:620501] synonym: "BMFS8" EXACT [] synonym: "BONE MARROW FAILURE SYNDROME 8" EXACT [] synonym: "ZHS" EXACT [] xref: MIM:620501 is_a: DOID:2519 ! testicular disease is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007222 ! Bone Marrow Failure Disorders created_by: slaulederkind creation_date: 2023-11-10T11:20:39Z [Term] id: DOID:9007428 name: Muscle Spasticity def: "A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial resistance (a 'free interval') followed by an incremental increase in muscle tone. Tone increases in proportion to the velocity of stretch. Spasticity is usually accompanied by HYPERREFLEXIA and variable degrees of MUSCLE WEAKNESS. (From Adams et al., Principles of Neurology, 6th ed, p54)" [MESH:D009128] synonym: "Clasp Knife Spasticity" EXACT [] synonym: "Spastic" EXACT [] synonym: "SPASTICITY" EXACT [] xref: MESH:D009128 is_a: DOID:0080000 ! muscular disease is_a: DOID:9008941 ! Muscle Hypertonia [Term] id: DOID:9007429 name: Soft Tissue Neoplasms def: "Neoplasms of whatever cell type or origin, occurring in the extraskeletal connective tissue framework of the body including the organs of locomotion and their various component structures, such as nerves, blood vessels, lymphatics, etc." [MESH:D012983] synonym: "Soft Tissue Neoplasm" EXACT [] xref: EFO:1000541 xref: MESH:D012983 is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms [Term] id: DOID:9007431 name: Intimal Sarcoma def: "This is a malignant neoplasm arising from the large blood vessels. It is characterized by the presence of tumor cells that grow within the lumen of the blood vessels. The intraluminal tumor growth may result in vascular obstruction and spread of tumor emboli to peripheral organs. The prognosis is usually poor" [NCI:C53677] xref: EFO:1000305 is_a: DOID:4235 ! spindle cell sarcoma is_a: DOID:9007429 ! Soft Tissue Neoplasms created_by: slaulede creation_date: 2023-01-06T12:04:40Z [Term] id: DOID:9007432 name: Latent Tuberculosis def: "The dormant form of TUBERCULOSIS where the person shows no obvious symptoms and no sign of the causative agent (Mycobacterium tuberculosis) in the SPUTUM despite being positive for tuberculosis infection skin test." [MESH:D055985] synonym: "Latent Tuberculoses" EXACT [] synonym: "Latent Tuberculosis Infection" EXACT [] synonym: "Latent Tuberculosis Infections" EXACT [] xref: MESH:D055985 is_a: DOID:399 ! tuberculosis [Term] id: DOID:9007433 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES synonym: "IDDSSA" EXACT [] xref: MIM:618453 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: slaulede creation_date: 2019-09-13T12:50:36Z [Term] id: DOID:9007434 name: small artery occlusion def: "This is blockage of blood flow through a small artery, particularly in the brain." [EFO:1001495] xref: EFO:1001495 is_a: DOID:0112313 ! brain small vessel disease is_a: DOID:9006474 ! Arterial Occlusive Diseases created_by: slaulede creation_date: 2022-10-18T13:11:22Z [Term] id: DOID:9007436 name: Hypertrophic Cicatrix def: "An elevated scar, resembling a KELOID, but which does not spread into surrounding tissues. It is formed by enlargement and overgrowth of cicatricial tissue and regresses spontaneously." [MESH:D017439] synonym: "Hypertrophic Cicatrices" EXACT [] synonym: "Hypertrophic Scar" EXACT [] synonym: "Hypertrophic Scars" EXACT [] xref: MESH:D017439 is_a: DOID:9004739 ! Cicatrix [Term] id: DOID:9007438 name: Kasabach-Merritt Syndrome alt_id: MIM:141000 def: "Rapidly growing vascular lesion along the midline axis of the neck, upper trunk, and extremities that is characterized by CONSUMPTION COAGULOPATHY; THROMBOCYTOPENIA; and HEMOLYTIC ANEMIA. It is often associated with infantile Kaposiform HEMANGIOENDOTHELIOMA and other vascular tumors such as tufted ANGIOMA." [MESH:D059885] synonym: "Hemangioma Thrombocytopenia Syndrome" EXACT [] synonym: "Hemangioma Thrombocytopenia Syndromes" EXACT [] synonym: "Kasabach Merritt Phenomenon" EXACT [] xref: MESH:D059885 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome is_a: DOID:255 ! hemangioma [Term] id: DOID:9007439 name: Parasystole def: "A cardiac arrhythmia that is caused by interaction of two independently initiated cardiac impulses of different rates from two separate foci. Generally one focus is the SINOATRIAL NODE, the normal pacemaker. The ectopic focus is usually in the HEART VENTRICLE but can be in the HEART ATRIUM or the ATRIOVENTRICULAR NODE. Modulation of the parasystolic rhythm by the sinus rhythm depends on the completeness of entrance block surrounding the parasystolic focus." [MESH:D017574] synonym: "Parasystoles" EXACT [] xref: MESH:D017574 xref: RDO:0007058 is_a: DOID:9000064 ! Cardiac Arrhythmias [Term] id: DOID:9007440 name: Coronary Artery Disease, Autosomal Dominant 1 alt_id: MIM:608320 synonym: "ADCAD1" EXACT [] synonym: "CORONARY ARTERY DISEASE/MYOCARDIAL INFARCTION" EXACT [] synonym: "Coronary Artery Disease With Myocardial Infarction" EXACT [] xref: MESH:C564258 is_a: DOID:3393 ! coronary artery disease is_a: DOID:5844 ! myocardial infarction [Term] id: DOID:9007441 name: Abnormal Thyroid Hormone Metabolism 3 def: "A disease characterized by euthyroid hyperthyroxinemia, with elevated free T4 and reverse T3 levels, and normal TSH and free T3 levels. Caused by homozygous mutation in the TRU-TCA1-1 gene on chromosome 19q13." [MIM:620198] synonym: "THMA3" EXACT [] xref: MIM:620198 is_a: DOID:50 ! thyroid gland disease created_by: mtutaj creation_date: 2023-01-11T10:40:15Z [Term] id: DOID:9007442 name: Central Centrifugal Cicatricial Alopecia def: "Central centrifugal cicatricial alopecia (CCCA) is the most common type of primary scarring alopecia affecting women of African ancestry, with an estimated prevalence of 2.7 to 5.6%. It may be triggered by hair-grooming habits; however, familial occurrence has been reported. Mean age at presentation is 36 years. The first sign is often unexplained hair breakage, followed by hair thinning, primarily involving the vertex scalp and progressing centrifugally. Histopathologic examination shows varying degrees of lymphocytic inflammation, follicular degeneration, and fibrosis. (OMIM)" [] synonym: "CCCA" EXACT [] synonym: "cicatricial alopecia" BROAD [] xref: EFO:1002028 xref: MIM:618352 is_a: DOID:987 ! alopecia created_by: mtutaj creation_date: 2019-03-12T10:48:32Z [Term] id: DOID:9007443 name: HAIR-AN syndrome synonym: "Hyperandrogenic, insulin-resistant acanthosis nigricans syndrome" EXACT [] synonym: "Hyperandrogenism (HA), insulin resistance (IR), and acanthosis nigricans (AN)" EXACT [] xref: MESH:C537629 is_a: DOID:11613 ! hyperandrogenism is_a: DOID:225 ! syndrome is_a: DOID:3138 ! acanthosis nigricans is_a: DOID:9007692 ! Insulin Resistance [Term] id: DOID:9007444 name: Siegler Brewer Carey Syndrome xref: MESH:C537335 is_a: DOID:1579 ! respiratory system disease is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9000343 ! Vision Disorders is_a: DOID:9003483 ! Conductive Hearing Loss is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007445 name: Autoimmune Lymphoproliferative Syndrome, Type V def: "An autosomal dominant complex immune disorder characterized by autoimmune thrombocytopenias and abnormal lymphocytic infiltration of nonlymphoid organs, including the lungs, brain, and gastrointestinal tract, resulting in enteropathy. (OMIM)" [] synonym: "ALPS5" EXACT [] synonym: "CHAI" EXACT [] synonym: "CTLA4 HAPLOINSUFFICIENCY WITH AUTOIMMUNE INFILTRATION" EXACT [] synonym: "IDAIL" EXACT [] synonym: "immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation" EXACT [] xref: MIM:616100 is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:9007446 name: Wernicke Aphasia def: "Impairment in the comprehension of speech and meaning of words, both spoken and written, and of the meanings conveyed by their grammatical relationships in sentences. It is caused by lesions that primarily affect Wernicke's area, which lies in the posterior perisylvian region of the temporal lobe of the dominant hemisphere. (From Brain & Bannister, Clinical Neurology, 7th ed, p141; Kandel et al., Principles of Neural Science, 3d ed, p846)" [MESH:D001041] synonym: "fluent aphasia" EXACT [] synonym: "Fluent Aphasia, Wernicke" EXACT [] synonym: "Fluent Aphasia, Wernickes" EXACT [] synonym: "Fluent Dysphasia" EXACT [] synonym: "Fluent Dysphasias" EXACT [] synonym: "Jargon Aphasia" EXACT [] synonym: "Jargon Aphasias" EXACT [] synonym: "Posterior Aphasia" EXACT [] synonym: "Posterior Aphasias" EXACT [] synonym: "Psychosensory Aphasia" EXACT [] synonym: "Psychosensory Aphasias" EXACT [] synonym: "Receptive Aphasia" EXACT [] synonym: "Receptive Dysphasia" EXACT [] synonym: "Receptive Dysphasias" EXACT [] synonym: "Sensory Aphasia" EXACT [] synonym: "Sensory Dysphasia" EXACT [] synonym: "Sensory Dysphasias" EXACT [] synonym: "Wernicke's dysphasia" EXACT [] synonym: "Wernicke's fluent aphasia" EXACT [] synonym: "Wernicke Aphasias" EXACT [] synonym: "Wernicke Dysphasia" EXACT [] synonym: "Wernickes dysphasia" EXACT [] xref: MESH:D001041 is_a: DOID:0060046 ! aphasia [Term] id: DOID:9007447 name: Developmental Delay, Epilepsy, and Neonatal Diabetes alt_id: RDO:0013947 synonym: "DEND SYNDROME" EXACT [] xref: MESH:C565253 is_a: DOID:11717 ! neonatal diabetes is_a: DOID:1826 ! epilepsy is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9007448 name: Autosomal Sideroblastic Anemia alt_id: RDO:0003155 synonym: "AUTOSOMAL RECESSIVE SIDEROBLASTIC ANEMIA" EXACT [] synonym: "Sideroblastic anemia, autosomal recessive inheritance" EXACT [] xref: MESH:C537334 is_a: DOID:8955 ! sideroblastic anemia [Term] id: DOID:9007451 name: Mental Retardation Mietens Weber Type alt_id: MIM:249600 synonym: "Mental retardation syndrome, Mietens Weber type" EXACT [] synonym: "Mietens-Weber syndrome" EXACT [] xref: MESH:C537444 is_a: DOID:1059 ! intellectual disability is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9006836 ! Contracture is_a: DOID:9008606 ! Corneal Opacity is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:9007452 name: Immunodeficiency, Gonadal Dysgenesis, and Pulmonary Fibrosis alt_id: MIM:611926 synonym: "IMMUNODEFICIENCY, OVARIAN DYSGENESIS, AND PULMONARY FIBROSIS" EXACT [] xref: MESH:C567457 is_a: DOID:14447 ! gonadal dysgenesis is_a: DOID:3770 ! pulmonary fibrosis is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9007453 name: Silver-Russell Syndrome 5 def: "Silver-Russell syndrome caused by heterozygous mutation in the HMGA2 gene on chromosome 12q14." [MIM:618908 "RGD"] synonym: "Silver-Russell 5" EXACT [] synonym: "SRS5" EXACT [] xref: MIM:618908 is_a: DOID:14681 ! Silver-Russell syndrome created_by: mtutaj creation_date: 2020-06-15T13:59:31Z [Term] id: DOID:9007454 name: amyloidoma def: "This is a nodular localized form of amyloidosis with predominantly thoracic localization (pulmonary amyloidosis), considered as secondary protein structure disease in which insoluble protein fibrils accumulate extracellularly. The form of primary amyloid in amyloidoma is characterized by abnormal deposition of light chain proteins composed of monoclonal immunoglobulin. Pulmonary amyloidomas are rare and are often found incidentally as solitary or multiple calcified nodules and masses on chest radiographs in asymptomatic elderly patients." [NCI:C41137] synonym: "Nodular Amyloidosis" EXACT [] xref: EFO:1001874 is_a: DOID:9120 ! amyloidosis created_by: slaulede creation_date: 2023-02-23T15:59:35Z [Term] id: DOID:9007455 name: Congenital Hypotonia, Epilepsy, Developmental Delay, and Digital Anomalies def: "A syndromic neurodevelopmental disorder characterized by severe global developmental delay, impaired intellectual development with poor or absent language, significant motor disability with inability to walk, dysmorphic facial features, skeletal anomalies, and variable congenital anomalies." [MIM:618494] synonym: "ATN1-RELATED DISORDERS" BROAD [] synonym: "CHEDDA" EXACT [] synonym: "congenital ATN1-related disorder" BROAD [] xref: MIM:618494 is_a: DOID:1826 ! epilepsy is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2019-08-13T15:35:26Z [Term] id: DOID:9007456 name: Female Infertility def: "Diminished or absent ability of a female to achieve conception." [MESH:D007247] synonym: "Female Sterility" EXACT [] synonym: "Female Subfertility" EXACT [] synonym: "female sub-fertility" EXACT [] synonym: "postpartum sterility" EXACT [] xref: EFO:0008560 xref: MESH:D007247 xref: MIM:PS615774 is_a: DOID:5223 ! infertility [Term] id: DOID:9007457 name: Dyskinesias, Seizures, and Intellectual Developmental Disorder synonym: "DEAF1-RELATED CONDITION" BROAD [] synonym: "DEAF1-RELATED DISORDER" BROAD [] synonym: "DYSEIDD" EXACT [] synonym: "Dyskinesia, seizures, and intellectual developmental disorder" EXACT [] synonym: "NEDHELS" EXACT [] synonym: "Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures" EXACT [] xref: MIM:617171 is_a: DOID:1059 ! intellectual disability is_a: DOID:11832 ! visual epilepsy is_a: DOID:1826 ! epilepsy is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9007458 name: Familial Obstructive Jaundice of Infancy alt_id: MIM:308600 xref: MESH:C564118 is_a: DOID:13603 ! obstructive jaundice [Term] id: DOID:9007460 name: Vertebral Body Fusion Overgrowth synonym: "Progressive anterior vertebral body fusion, overgrowth and distinct craniofacial appearance" EXACT [] xref: MESH:C536543 xref: RDO:0002158 is_a: DOID:0080006 ! bone development disease is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007461 name: Chronic Lung Allograft Dysfunction def: "Chronic and progressive loss of function in a transplanted lung. It involves a persistent decline in FEV1 (Forced expiratory volume in 1 second) of more than 20%, independent of the type of pulmonary function defect." [] synonym: "CLAD" EXACT [] xref: EFO:0008497 is_a: DOID:9002153 ! Chronic Allograft Dysfunction is_a: DOID:9006827 ! Lung Reperfusion Injury [Term] id: DOID:9007462 name: Partial Agenesis of Corpus Callosum synonym: "PARTIAL AGENESIS OF THE CORPUS CALLOSUM" EXACT [] xref: MESH:C536111 xref: RDO:0001550 is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:9007463 name: Silver-Russell Syndrome 2 def: "Pre- and postnatal growth retardation, with relative sparing of cranial growth, triangular facies, and downturned corners of the mouth. An imprinting disorder involving genes within the imprinted region of chromosome 7." [MIM:618905 "RGD"] synonym: "maternal uniparental disomy, chromosome 7" EXACT [] synonym: "SRS2" EXACT [] xref: MIM:618905 is_a: DOID:14681 ! Silver-Russell syndrome is_a: DOID:9006108 ! Uniparental Disomy created_by: mtutaj creation_date: 2020-06-15T13:47:38Z [Term] id: DOID:9007464 name: Proximal Renal Tubular Acidosis, with Ocular Abnormalities and Mental Retardation synonym: "autosomal recessive proximal renal tubular acidosis with ocular abnormalities and impaired intellectual development" EXACT [] synonym: "proximal renal tubular acidosis-ocular anomaly syndrome" EXACT [] synonym: "proximal renal tubular acidosis with ocular abnormalities and impaired intellectual development" EXACT [] synonym: "proximal RTA, autosomal recessive" EXACT [] synonym: "PRTAO" EXACT [] xref: MESH:C567038 xref: MIM:604278 xref: MONDO:0011422 is_a: DOID:1059 ! intellectual disability is_a: DOID:14219 ! renal tubular acidosis is_a: DOID:1686 ! glaucoma [Term] id: DOID:9007465 name: 6-Phosphogluconolactonase Deficiency alt_id: MIM:172150 synonym: "6PGL Deficiency" EXACT [] synonym: "PGLS Deficiency" EXACT [] xref: MESH:C566803 is_a: DOID:583 ! hemolytic anemia is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9007468 name: Neuhauser Daly Magnelli Syndrome alt_id: MIM:190310 synonym: "Essential tremors, nystagmus and duodenal ulceration" EXACT [] synonym: "Tremor, Nystagmus, and Duodenal Ulcer" EXACT [] synonym: "Tremor nystagmus duodenal ulcer" EXACT [] synonym: "Tremors, nystagmus and duodenal ulcers" EXACT [] xref: MESH:C536406 is_a: DOID:1724 ! duodenal ulcer is_a: DOID:225 ! syndrome is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:9007469 name: 2-Hydroxyethyl Methacrylate Sensitization synonym: "Sensitization to 2-hydroxyethyl methacrylate" EXACT [] xref: MESH:C535305 xref: RDO:0000343 is_a: DOID:3042 ! allergic contact dermatitis [Term] id: DOID:9007470 name: Patent Ductus Arteriosus 3 synonym: "PDA3" EXACT [] xref: MIM:617039 xref: RDO:9001512 is_a: DOID:13832 ! patent ductus arteriosus created_by: rgd creation_date: 2017-03-29T00:00:00Z [Term] id: DOID:9007471 name: vascular toxicity def: "This is toxicity that impairs the vascular system or damages its function. It is a frequent adverse effect of current anticancer chemotherapies and often results from endothelial dysfunction. Vascular endothelial growth factor inhibitors (VEGFi), anthracyclines, plant alkaloids, alkylating agents, antimetabolites, and radiation therapy evoke vascular toxicity." [PMID:34386529] xref: EFO:0011062 is_a: DOID:9000352 ! Vascular System Injuries is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions created_by: slaulede creation_date: 2023-02-27T16:02:46Z [Term] id: DOID:9007472 name: Skin Manifestations def: "Dermatologic disorders attendant upon non-dermatologic disease or injury." [MESH:D012877] synonym: "Skin Manifestation" EXACT [] xref: MESH:D012877 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9007473 name: Familial Hemorrhagic Diathesis due to Antithrombin alt_id: MIM:207300 xref: MESH:C565947 is_a: DOID:2213 ! hemorrhagic disease [Term] id: DOID:9007474 name: Creutzfeldt-Jakob Disease, Heidenhain Variant xref: MESH:C566981 is_a: DOID:11949 ! Creutzfeldt-Jakob disease is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:9007475 name: Pulmonary Surfactant Metabolism Dysfunction 5 synonym: "CSF2RB DEFICIENCY" EXACT [] synonym: "CSF2RB-RELATED CONDITION" EXACT [] synonym: "PAP DUE TO CSF2RB DEFICIENCY" EXACT [] synonym: "pulmonary alveolar proteinosis 5" EXACT [] synonym: "SMDP5" EXACT [] xref: MIM:614370 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:9006807 ! Congenital Pulmonary Alveolar Proteinosis [Term] id: DOID:9007476 name: Jones Hersh Yusk Syndrome synonym: "Aplasia cutis cleft palate epidermolysis" EXACT [] synonym: "Aplasia cutis congenita, cleft palate, epidermolysis bullosa, and ectrodactyly" EXACT [] synonym: "Ptosis, ectropion, thin skin, beaked nose" EXACT [] xref: MESH:C535885 xref: RDO:0001241 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007477 name: Kininogen Deficiency, High Molecular Weight and Low Molecular Weight xref: MESH:C567116 is_a: DOID:620 ! blood protein disease [Term] id: DOID:9007478 name: Malocclusion, Angle Class III alt_id: MIM:176700 def: "Malocclusion in which the mandible is anterior to the maxilla as reflected by the first relationship of the first permanent molar (mesioclusion)." [MESH:D008313] synonym: "Angle Class III" EXACT [] synonym: "Habsburg Jaw" EXACT [] synonym: "Hapsburg Jaw" EXACT [] synonym: "mandibular prognathism" EXACT [] synonym: "Underbite" EXACT [] xref: MESH:D008313 is_a: DOID:9000121 ! Malocclusion [Term] id: DOID:9007479 name: Habitual Abortions alt_id: MIM:614389 alt_id: MIM:614390 alt_id: MIM:614391 def: "Three or more consecutive spontaneous abortions." [MESH:D000026] synonym: "Habitual Abortion" EXACT [] synonym: "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 1" RELATED [] synonym: "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 2" RELATED [] synonym: "PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3" RELATED [] synonym: "Recurrent Abortion" EXACT [] synonym: "recurrent abortions" EXACT [] synonym: "recurrent embryonic loss" EXACT [] synonym: "recurrent fetal loss, susceptibility to" RELATED [] synonym: "Recurrent Miscarriage" EXACT [] synonym: "Recurrent Miscarriages" EXACT [] synonym: "recurrent spontaneous abortion" EXACT [] synonym: "recurrent spontaneous abortions" EXACT [] synonym: "recurrent stillbirth" EXACT [] synonym: "RPL" EXACT [] synonym: "RPRGL" EXACT [] synonym: "RPRGL1" RELATED [] synonym: "RPRGL2" RELATED [] synonym: "RPRGL3" RELATED [] xref: EFO:1000954 xref: MESH:D000026 is_a: DOID:9003281 ! Spontaneous Abortions [Term] id: DOID:9007480 name: Hyperoxia def: "An abnormal increase in the amount of oxygen in the tissues and organs." [MESH:D018496] synonym: "Hyperoxias" EXACT [] xref: MESH:D018496 is_a: DOID:9000575 ! Respiratory Signs and Symptoms [Term] id: DOID:9007481 name: Otitis def: "Inflammation of the ear, which may be marked by pain (EARACHE), fever, HEARING DISORDERS, and VERTIGO. Inflammation of the external ear is OTITIS EXTERNA; of the middle ear, OTITIS MEDIA; of the inner ear, LABYRINTHITIS." [MESH:D010031] synonym: "Ear Inflammation" EXACT [] synonym: "Ear Inflammations" EXACT [] synonym: "Otitides" EXACT [] xref: MESH:D010031 xref: RDO:0005953 is_a: DOID:2742 ! auditory system disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9007482 name: Bone Metastasis def: "Transfer of a neoplasm from its primary site to distant bone." [] synonym: "bone metastases" EXACT [] synonym: "MBD" EXACT [] synonym: "metastatic bone disease" EXACT [] xref: EFO:0009870 is_a: DOID:9000965 ! Neoplasm Metastasis is_a: DOID:9004389 ! Bone Neoplasms [Term] id: DOID:9007483 name: Epidermolysis Bullosa Simplex Superficialis alt_id: MIM:607600 xref: MESH:C564368 is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:9007484 name: Xeroderma Pigmentosum, Type 9 def: "Note: type 9 was described but it has now been withdrawn as it appears to be the same as another xeroderma pigementosum type. (http://www.rightdiagnosis.com/x/xeroderma_pigmentosum_type_9/intro.htm)" [] synonym: "Xeroderma pigmentosum, complementation group 1" EXACT [] synonym: "Xeroderma Pigmentosum, Complementation Group I" EXACT [] synonym: "Xeroderma Pigmentosum Group I" EXACT [] synonym: "Xeroderma Pigmentosum IX" EXACT [] synonym: "XP9" EXACT [] synonym: "XP, Group I" EXACT [] xref: MESH:C536765 xref: MESH:C564731 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:9007485 name: Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation synonym: "IMD124" EXACT [] synonym: "Immunodeficiency 124" EXACT [] synonym: "Immunodeficiency 124, severe combined" EXACT [] synonym: "NHEJ1 Syndrome" EXACT [] synonym: "SCID, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-POSITIVE, AND SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY" NARROW [] synonym: "SCID, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation" EXACT [] synonym: "SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION DUE TO NHEJ1 DEFICIENCY" NARROW [] synonym: "Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation Due To Nhej1 Deficiency" EXACT [] xref: MESH:C566970 xref: MIM:611291 is_a: DOID:10907 ! microcephaly is_a: DOID:627 ! severe combined immunodeficiency is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007486 name: Scleromyxedema def: "A connective tissue disorder characterized by widespread thickening of SKIN with a cobblestone-like appearance. It is caused by proliferation of FIBROBLASTS and deposition of MUCIN in the DERMIS in the absence of thyroid disease. Most scleromyxedema cases are associated with a MONOCLONAL GAMMOPATHY, immunoglobulin IgG-lambda." [MESH:D053718] synonym: "Lichen Myxedematosus" EXACT [] synonym: "Papular Mucinosis" EXACT [] xref: MESH:D053718 xref: NCI:C85061 is_a: DOID:3141 ! mucinoses [Term] id: DOID:9007487 name: Idiopathic Basal Ganglia Calcification 7 synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE" EXACT [] synonym: "IBGC7" EXACT [] synonym: "MYORG-RELATED CONDITION" EXACT [] xref: MIM:618317 is_a: DOID:0060230 ! basal ganglia calcification is_a: DOID:1289 ! neurodegenerative disease created_by: mtutaj creation_date: 2019-02-13T00:00:00Z [Term] id: DOID:9007488 name: Idiopathic Juxtafoveal Retinal Telangiectasia xref: MESH:C548027 xref: RDO:0004638 is_a: DOID:7736 ! retinal telangiectasia [Term] id: DOID:9007490 name: Edema Disease of Swine def: "An acute disease of young pigs that is usually associated with weaning. It is characterized clinically by paresis and subcutaneous edema." [MESH:D004488] synonym: "Swine Edema Disease" EXACT [] synonym: "Swine Edema Diseases" EXACT [] xref: MESH:D004488 is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9007491 name: Childhood Schizophrenia alt_id: RDO:0006539 def: "An obsolete concept, historically used for childhood mental disorders thought to be a form of schizophrenia. It was in earlier versions of DSM but is now included within the broad concept of PERVASIVE DEVELOPMENT DISORDERS." [MESH:D012561] synonym: "Childhood Onset Schizophrenia" EXACT [] xref: MESH:D012561 is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:9007492 name: Akaba Hayasaka Syndrome xref: MESH:C535609 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9007493 name: Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic synonym: "PCK1 DEFICIENCY, CYTOSOLIC" EXACT [] synonym: "PCKDC" EXACT [] synonym: "PEPCK DEFICIENCY, CYTOSOLIC" EXACT [] synonym: "Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic" EXACT [] xref: MIM:261680 is_a: DOID:9003263 ! Phosphoenolpyruvate Carboxykinase Deficiency created_by: mtutaj creation_date: 2023-04-14T08:53:57Z [Term] id: DOID:9007494 name: Lipoatrophy with Diabetes, Hepatic Steatosis, Cardiomyopathy, and Leukomelanodermic Papules xref: MESH:C535905 xref: RDO:0001270 is_a: DOID:11984 ! hypertrophic cardiomyopathy is_a: DOID:811 ! lipodystrophy is_a: DOID:9351 ! diabetes mellitus is_a: DOID:9452 ! steatotic liver disease [Term] id: DOID:9007495 name: Macules Hereditary Congenital Hypopigmented and Hyperpigmented synonym: "Congenital hypomelanotic and hypermelanotic macules" EXACT [] synonym: "Westerhof Beemer Cormane syndrome" EXACT [] xref: MESH:C537836 xref: RDO:0003742 is_a: DOID:10123 ! pigmentation disease [Term] id: DOID:9007496 name: Thyroid Benign Neoplasms synonym: "Benign Thyroid Gland Neoplasm" EXACT [] synonym: "Thyroid Benign Neoplasm" EXACT [] xref: EFO:1000122 xref: RDO:9003196 is_a: DOID:9004547 ! Thyroid Neoplasms created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:9007497 name: Polyglucosan Body Disease, Adult Form alt_id: MIM:263570 synonym: "Adult Polyglucosan Body Disease" EXACT [] synonym: "adult polyglucosan body neuropathy" EXACT [] synonym: "APBD" EXACT [] synonym: "APBN" EXACT [] synonym: "GBE1-related disorder" BROAD [] synonym: "GBE1-RELATED DISORDERS" BROAD [] synonym: "POLYGLUCOSAN BODY NEUROPATHY, ADULT FORM" EXACT [] xref: MESH:C564878 xref: MONDO:0009897 is_a: DOID:2747 ! glycogen storage disease is_a: DOID:863 ! nervous system disease [Term] id: DOID:9007498 name: Craniomandibular Osteopathy def: "A bone disease involving the joint connecting upper and lower jaws." [] xref: OMIA:000236 xref: RDO:9001461 is_a: DOID:9006309 ! Mandibular Diseases created_by: rgd creation_date: 2017-03-13T00:00:00Z [Term] id: DOID:9007499 name: Pyloric Atresia alt_id: MIM:265950 def: "A hereditary autosomal recessive obstruction of the pylorus. Affected fetuses have dilated stomachs and mothers may exhibit POLYHYDRAMNIOS." [MESH:C562561] xref: MESH:C562561 is_a: DOID:3122 ! gastric outlet obstruction [Term] id: DOID:9007500 name: Prurigo def: "A name applied to several itchy skin eruptions of unknown cause. The characteristic course is the formation of a dome-shaped papule with a small transient vesicle on top, followed by crusting over or lichenification. (From Dorland, 27th ed)" [MESH:D011536] xref: MESH:D011536 is_a: DOID:37 ! skin disease [Term] id: DOID:9007501 name: Multiple System Atrophy (MSA) with Orthostatic Hypotension alt_id: MIM:146500 synonym: "COQ2-RELATED CONDITION" BROAD [] synonym: "MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO" RELATED [] xref: MESH:C537381 is_a: DOID:4752 ! multiple system atrophy [Term] id: DOID:9007502 name: Brain Neoplasms def: "Neoplasms of the intracranial components of the central nervous system, including the cerebral hemispheres, basal ganglia, hypothalamus, thalamus, brain stem, and cerebellum. Brain neoplasms are subdivided into primary (originating from brain tissue) and secondary (i.e., metastatic) forms. Primary neoplasms are subdivided into benign and malignant forms. In general, brain tumors may also be classified by age of onset, histologic type, or presenting location in the brain." [MESH:D001932] synonym: "benign brain neoplasm" NARROW [] synonym: "benign brain neoplasms" NARROW [] synonym: "Brain Malignant Neoplasm" NARROW [] synonym: "Brain Malignant Neoplasms" NARROW [] synonym: "brain neoplasm" EXACT [] synonym: "Brain Tumor" EXACT [] synonym: "Brain Tumors" EXACT [] synonym: "Intracranial Neoplasm" EXACT [] synonym: "Intracranial Neoplasms" EXACT [] synonym: "Malignant Primary Brain Neoplasms" NARROW [] synonym: "Malignant Primary Brain Tumors" NARROW [] synonym: "neoplasm of brain" EXACT [] synonym: "primary brain neoplasm" EXACT [] synonym: "Primary Brain Neoplasms" EXACT [] synonym: "primary brain tumor" EXACT [] synonym: "primary brain tumors" EXACT [] synonym: "recurrent brain tumor" EXACT [] synonym: "recurrent brain tumors" EXACT [] xref: EFO:0003833 xref: EFO:1000107 xref: MESH:D001932 is_a: DOID:9007701 ! Central Nervous System Neoplasms is_a: DOID:936 ! brain disease [Term] id: DOID:9007503 name: Striatonigral Degeneration, Infantile, Mitochondrial alt_id: MIM:500003 synonym: "Infantile Bilateral Striatal Necrosis, Mitochondrial" EXACT [] xref: MESH:C564025 is_a: DOID:4751 ! striatonigral degeneration [Term] id: DOID:9007504 name: Chromosome Xq27.3-q28 Duplication Syndrome def: "An X-linked recessive neurodevelopmental disorder characterized by mild mental retardation, mild facial dysmorphism, short stature, and primary testicular failure manifest as high-pitched voice, sparse body hair, abdominal obesity, and small testes. Caused by copy number increase of a 5.1-Mb region of chromosome Xq27.3-q28 encompassing at least 28 genes, including FMR1." [MIM:300869] xref: MIM:300869 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:9004151 ! Sex Chromosome Disorders is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2022-11-21T15:23:17Z [Term] id: DOID:9007505 name: Familial Hypophosphatemic Rickets def: "A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported." [MESH:D053098] synonym: "hereditary hypophosphatemic rickets" EXACT [] synonym: "hereditary vitamin D resistant rickets" EXACT [] synonym: "HPDR" EXACT [] synonym: "HYP" EXACT [] xref: MESH:D053098 xref: MIM:PS193100 is_a: DOID:9001458 ! Hypophosphatemic Rickets is_a: DOID:9007740 ! Familial Hypophosphatemia [Term] id: DOID:9007508 name: Generalized Essential Telangiectasia alt_id: MIM:187260 synonym: "HBT" EXACT [] synonym: "Hereditary Benign Telangiectasia" EXACT [] xref: MESH:C562908 xref: MESH:C562998 xref: MONDO:0008534 xref: ORDO:280774 is_a: DOID:1272 ! telangiectasis [Term] id: DOID:9007509 name: Hhhh Syndrome alt_id: MIM:306960 synonym: "Hereditary Hemihypotrophy Hemiparesis Hemiathetosis Syndrome" EXACT [] xref: MESH:C564411 is_a: DOID:225 ! syndrome is_a: DOID:9002079 ! Paresis is_a: DOID:9008739 ! Athetosis [Term] id: DOID:9007510 name: Progressive Supranuclear Palsy 1 def: "A progressive supranuclear palsy caused by heterozygous mutation in the gene encoding microtubule-associated protein tau (MAPT) on chromosome 17q21." [] synonym: "PSNP1" EXACT [] xref: MIM:601104 is_a: DOID:678 ! progressive supranuclear palsy created_by: tutajm creation_date: 2024-09-23T13:22:55Z [Term] id: DOID:9007511 name: Bronchiolitis Obliterans Syndrome def: "Bronchiolitis obliterans complication from allogenic HEMATOPOIETIC STEM CELL TRANSPLANTATION and LUNG TRANSPLANTATION." [] synonym: "BOS Bronchiolitis Obliterans Syndrome" EXACT [] synonym: "Chronic Graft-Versus-Host Disease" EXACT [] synonym: "Obstructive Chronic Lung Allograft Dysfunction" EXACT [] synonym: "Obstructive CLAD" EXACT [] xref: MESH:D000092122 xref: MONDO:0020547 is_a: DOID:0081267 ! graft-versus-host disease is_a: DOID:9003073 ! Organizing Pneumonia created_by: mtutaj creation_date: 2022-12-12T13:57:43Z [Term] id: DOID:9007513 name: Steel Syndrome def: "Steel syndrome (STLS) is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention. STLS is caused by homozygous or compound heterozygous mutation in the COL27A1 gene on chromosome 9q32. (OMIM)" [] synonym: "DISLOCATED HIPS AND RADIAL HEADS, CARPAL COALITION, SCOLIOSIS, AND SHORT STATURE" EXACT [] synonym: "STLS" EXACT [] xref: MIM:615155 is_a: DOID:225 ! syndrome is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: rgd creation_date: 2015-06-11T00:00:00Z [Term] id: DOID:9007514 name: Developmental and Epileptic Encephalopathy 114 def: "This disease is characterized by moderately to severely impaired intellectual development, onset of epilepsy within the first 18 months of life, and a choreiform, dystonic, or dyskinetic movement disorder." [MIM:620774] synonym: "DEE114" EXACT [] xref: MIM:620774 xref: MONDO:0958331 is_a: DOID:0112202 ! developmental and epileptic encephalopathy created_by: slaulederkind creation_date: 2024-05-10T17:44:29Z [Term] id: DOID:9007516 name: C1q Deficiency synonym: "C1QD" EXACT [] synonym: "Complement Component C1q Deficiency" EXACT [] xref: MIM:PS613652 is_a: DOID:2921 ! glomerulonephritis is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9074 ! systemic lupus erythematosus [Term] id: DOID:9007517 name: Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia 2 synonym: "MECOM-RELATED CONDITION" EXACT [] synonym: "RUSAT2" EXACT [] xref: MIM:616738 xref: MONDO:0014758 is_a: DOID:9002496 ! Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia created_by: rgd creation_date: 2016-02-11T00:00:00Z [Term] id: DOID:9007518 name: Urogenital Adysplasia xref: MESH:C536481 xref: RDO:0002082 is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007519 name: Opitz Reynolds Fitzgerald syndrome xref: MESH:C535713 xref: RDO:0000981 is_a: DOID:225 ! syndrome is_a: DOID:9008003 ! Mandibulofacial Dysostosis is_a: DOID:9008797 ! Facial Asymmetry [Term] id: DOID:9007520 name: Paraomphalocele synonym: "Epigastric paraomphalocele" EXACT [] synonym: "Hypogastric paraomphalocele" EXACT [] xref: MESH:C537170 is_a: DOID:11044 ! gastroschisis [Term] id: DOID:9007521 name: Desbuquois Dysplasia 1 def: "Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx. Desbuquois dysplasia-1 (DBQD1) is caused by homozygous or compound heterozygous mutation in the CANT1 gene on chromosome 17q25. (OMIM)" [] synonym: "DBQD1" EXACT [] xref: MIM:251450 is_a: DOID:0060462 ! Desbuquois dysplasia created_by: mtutaj creation_date: 2019-03-26T00:00:00Z [Term] id: DOID:9007522 name: Aicardi-Goutieres Syndrome 6 synonym: "AGS6" EXACT [] xref: MIM:615010 xref: MONDO:0014007 is_a: DOID:0050629 ! Aicardi-Goutieres syndrome [Term] id: DOID:9007523 name: Femoracetabular Impingement def: "A pathological mechanical process that can lead to hip failure. It is caused by abnormalities of the ACETABULUM and/or FEMUR combined with rigorous hip motion, leading to repetitive collisions that damage the soft tissue structures." [MESH:D057925] synonym: "Femoracetabular Impingements" EXACT [] synonym: "Femoro Acetabular Impingement" EXACT [] synonym: "Femoroacetabular Impingement" EXACT [] synonym: "Femoro-Acetabular Impingements" EXACT [] synonym: "Femoroacetabular Impingements" EXACT [] synonym: "Femoroacetabular Impingement Syndrome" EXACT [] synonym: "Femoroacetabular Impingement Syndromes" EXACT [] xref: MESH:D057925 xref: RDO:0007807 is_a: DOID:381 ! arthropathy is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9007525 name: Leigh Syndrome Due To Mitochondrial Complex I Deficiency synonym: "Atpase Deficiency, Nuclear-Encoded" EXACT [] xref: MESH:C564021 is_a: DOID:3652 ! Leigh disease [Term] id: DOID:9007526 name: Dysplasia Epiphysealis Hemimelica alt_id: MIM:127800 synonym: "Trevor disease" EXACT [] xref: MESH:C537997 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9007527 name: Mitochondrial Myopathy, Infantile, Transient def: "Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis." [] synonym: "COX DEFICIENCY MYOPATHY, INFANTILE, TRANSIENT" EXACT [] synonym: "Mitochondrial myopathy, infantile, due to reversible cytochrome c oxidase deficiency" EXACT [] synonym: "MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT, DUE TO RESPIRATORY CHAIN DEFICIENCY" EXACT [] synonym: "MMIT" EXACT [] synonym: "RESPIRATORY CHAIN DEFICIENCY, INFANTILE, TRANSIENT" EXACT [] xref: MIM:500009 xref: RDO:9000705 is_a: DOID:699 ! mitochondrial myopathy [Term] id: DOID:9007528 name: Anonychia-Onychodystrophy with Hypoplasia or Absence of Distal Phalanges alt_id: MIM:106995 synonym: "anonychia and absence-hypoplasia of distal phalanges" EXACT [] synonym: "Cooks syndrome" EXACT [] xref: MESH:C537766 is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9001487 ! Facies is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9007529 name: Marfan Syndrome, Autosomal Recessive synonym: "RECESSIVE MARFANOID SYNDROME WITH SEVERE HERNIATION" EXACT [] is_a: DOID:14323 ! Marfan syndrome [Term] id: DOID:9007530 name: Schizotaxia xref: MESH:C536634 is_a: DOID:10646 ! schizotypal personality disorder [Term] id: DOID:9007531 name: Myopia 18, Autosomal Recessive alt_id: MIM:255500 synonym: "Myopia 18" EXACT [] synonym: "MYP18" EXACT [] xref: MESH:C567606 is_a: DOID:11830 ! myopia [Term] id: DOID:9007532 name: TAN-ALMURSHEDI SYNDROME def: "This disease is an autosomal recessive neurodevelopmental disorder characterized by intrauterine growth retardation, poor overall growth with short stature and microcephaly, hypotonia, global developmental delay with impaired intellectual development, poor or absent speech, spasticity, and dysmorphic facial features." [MIM:620641] synonym: "TANALS" EXACT [] xref: MIM:620641 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulederkind creation_date: 2024-03-05T12:16:12Z [Term] id: DOID:9007533 name: Hantavirus Infections def: "Infections with viruses of the genus HANTAVIRUS. This is associated with at least four clinical syndromes: HEMORRHAGIC FEVER WITH RENAL SYNDROME caused by viruses of the Hantaan group; a milder form of HFRS caused by SEOUL VIRUS; nephropathia epidemica caused by PUUMALA VIRUS; and HANTAVIRUS PULMONARY SYNDROME caused by SIN NOMBRE VIRUS." [MESH:D018778] synonym: "Hantavirus Infection" EXACT [] synonym: "Hantavirus infectious disease" EXACT [] xref: EFO:0007295 xref: MESH:D018778 xref: RDO:0005767 is_a: DOID:9004137 ! Bunyaviridae Infections [Term] id: DOID:9007534 name: Complex Cortical Dysplasia with Other Brain Malformations 10 def: "This disease is an autosomal recessive neurodevelopmental disorder characterized by severely impaired global development associated with abnormalities on brain imaging, including lissencephaly, cortical dysplasia, subcortical heterotopia, and paucity of white matter. The disorder results from defective neuronal migration during brain development. (OMIM)" [] synonym: "APC2-RELATED CONDITION" BROAD [] synonym: "CDCBM10" EXACT [] xref: MIM:618677 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations created_by: mtutaj creation_date: 2019-11-26T09:14:28Z [Term] id: DOID:9007535 name: Postmastectomy Angiosarcoma synonym: "Post-Mastectomy Angiosarcoma" EXACT [] synonym: "Postmastectomy Stewart-Treves Syndrome" EXACT [] xref: MESH:C000608733 xref: RDO:0016055 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:9006460 ! Breast Cancer Lymphedema [Term] id: DOID:9007536 name: Moyamoya Disease 2 alt_id: MIM:607151 synonym: "MYMY2" EXACT [] synonym: "RNF213-RELATED CONDITION" EXACT [] xref: MESH:C536992 xref: NCI:C183312 is_a: DOID:13099 ! Moyamoya disease [Term] id: DOID:9007537 name: Venom Allergy def: "Allergic reaction to venoms in insect bites and stings that is triggered by the immune system (i.e., HISTAMINE RELEASE)." [] synonym: "MESH:D000092422" EXACT [] synonym: "Venom Hypersensitivity" EXACT [] is_a: DOID:1205 ! allergic disease is_a: DOID:9007301 ! Insect Bites and Stings created_by: mtutaj creation_date: 2022-12-12T14:45:04Z [Term] id: DOID:9007538 name: Maxillary Fractures def: "Fractures of the upper jaw." [MESH:D008440] synonym: "Maxillary Fracture" EXACT [] xref: MESH:D008440 is_a: DOID:9004559 ! Jaw Fractures [Term] id: DOID:9007539 name: Peritoneal Retractile Mesenteritis xref: MESH:C538596 is_a: DOID:9006800 ! Peritoneal Panniculitis [Term] id: DOID:9007540 name: X-Linked Cone Dystrophy with Tapetal-like Sheen alt_id: MIM:304030 xref: MESH:C535975 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050795 ! cone dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9007541 name: Common Variable Immunodeficiency 15 def: "An autosomal dominant immunologic disorder characterized by the onset of severe recurrent infections in infancy or early childhood. Caused by heterozygous mutation in the SEC61A1 gene on chromosome 3q21." [MIM:620670] synonym: "CVID15" EXACT [] synonym: "DECREASED CIRCULATING ANTIBODY CONCENTRATION" BROAD [] xref: MIM:620670 is_a: DOID:12177 ! common variable immunodeficiency created_by: tutajm creation_date: 2024-01-19T10:39:27Z [Term] id: DOID:9007542 name: Vascular Compression of the Duodenum xref: MESH:C548420 xref: RDO:0004670 is_a: DOID:3557 ! superior mesenteric artery syndrome [Term] id: DOID:9007543 name: Familial Cirrhosis alt_id: MIM:118900 alt_id: MIM:215600 synonym: "CIRRHOSIS, CRYPTOGENIC" NARROW [] synonym: "CIRRHOSIS, FAMILIAL, WITH PULMONARY HYPERTENSION" NARROW [] synonym: "CIRRHOSIS, NONCRYPTOGENIC, SUSCEPTIBILITY TO" NARROW [] synonym: "COPPER-OVERLOAD CIRRHOSIS" NARROW [] synonym: "COPPER TOXICOSIS, IDIOPATHIC" NARROW [] synonym: "ENDEMIC TYROLEAN INFANTILE CIRRHOSIS" NARROW [] synonym: "ETIC" NARROW [] synonym: "ICC" NARROW [] synonym: "ICT" NARROW [] synonym: "Indian childhood cirrhosis" NARROW [] synonym: "Sen syndrome" NARROW [] xref: MESH:C566123 is_a: DOID:5082 ! liver cirrhosis is_a: DOID:630 ! genetic disease [Term] id: DOID:9007544 name: Vomiting, Anticipatory def: "Vomiting caused by expectation of discomfort or unpleasantness." [MESH:D014840] xref: MESH:D014840 xref: RDO:0006816 is_a: DOID:9008385 ! Vomiting [Term] id: DOID:9007546 name: Idiopathic Basal Ganglia Calcification 1 alt_id: MESH:C536275 alt_id: MESH:C537657 def: "Familial idiopathic basal ganglia calcification (IBGC) is characterized by bilateral basal ganglia calcification and has been associated with a variety of neurologic, cognitive, and psychiatric abnormalities. However, some affected individuals may be clinically asymptomatic. (OMIM)" [] synonym: "adult-onset idiopathic nonarteriosclerotic cerebral calcification" EXACT [] synonym: "bilateral striopallidodentate calcinosis" EXACT [] synonym: "BSPDC" EXACT [] synonym: "Cerebrovascular ferrocalcinosis" EXACT [] synonym: "familial Fahr disease" RELATED [] synonym: "Familial idiopathic basal ganglia calcification" EXACT [] synonym: "Fibgc" EXACT [] synonym: "IBGC1" EXACT [] synonym: "IBGC2" RELATED [] synonym: "IBGC3" RELATED [] synonym: "idiopathic basal ganglia calcification 2" RELATED [] synonym: "idiopathic basal ganglia calcification 3" RELATED [] synonym: "SLC20A2-RELATED CONDITION" EXACT [] synonym: "striopallidodentate calcinosis" EXACT [] synonym: "striopallidodentate calcinosis, autosomal dominant, adult onset" EXACT [] xref: MIM:213600 is_a: DOID:0060230 ! basal ganglia calcification is_a: DOID:1289 ! neurodegenerative disease [Term] id: DOID:9007547 name: Incomplete Abortion alt_id: RDO:0004691 def: "Premature loss of PREGNANCY in which not all the products of CONCEPTION have been expelled." [MESH:D000027] synonym: "Incomplete Abortions" EXACT [] xref: EFO:1001799 xref: MESH:D000027 is_a: DOID:9003281 ! Spontaneous Abortions [Term] id: DOID:9007548 name: Leukoencephalomyelopathy def: "A recessively inherited neurodegenerative disorder that affects the white matter of the central nervous system (CNS). (www.vetmed.umn.edu)" [] synonym: "LEMP" EXACT [] xref: OMIA:001788 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders created_by: slaulede creation_date: 2018-05-23T17:00:10Z [Term] id: DOID:9007549 name: Neurofibromatosis Type 4, of Riccardi alt_id: MIM:162270 synonym: "atypical neurofibromatosis" EXACT [] synonym: "Neurofibromatosis Type IV, Of Riccardi" EXACT [] synonym: "Neurofibromatosis, variant form(s) of" EXACT [] synonym: "NF4" EXACT [] xref: MESH:C537392 is_a: DOID:8712 ! neurofibromatosis [Term] id: DOID:9007550 name: Volcke Soekarman Syndrome xref: MESH:C537718 xref: RDO:0003607 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:2785 ! Dandy-Walker syndrome is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007552 name: Sporadic Hemiplegic Migraine xref: MESH:C563405 is_a: DOID:10024 ! migraine with aura [Term] id: DOID:9007553 name: neurotoxicity def: "This disease state involves injury to the central or peripheral nervous system or damage to its function. This damage can include stroke, multiple sclerosis, encephalopathy, dementia, Alzheimer's disease, amnesia, dyskinesia, Parkinson's disease, tremor, convulsions and Guillain Barre syndrome." [EFO:0011057] xref: EFO:0011057 is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions created_by: slaulede creation_date: 2022-12-12T15:57:02Z [Term] id: DOID:9007554 name: Mydriasis def: "Dilation of pupils to greater than 6 mm combined with failure of the pupils to constrict when stimulated with light. This condition may occur due to injury of the pupillary fibers in the oculomotor nerve, in acute angle-closure glaucoma, and in ADIE SYNDROME." [MESH:D015878] xref: HP:0011499 xref: MESH:D015878 is_a: DOID:238 ! pupil disease [Term] id: DOID:9007555 name: Spinal Muscular Atrophy with Congenital Bone Fractures 2 synonym: "SMABF2" EXACT [] xref: MIM:616867 is_a: DOID:9004171 ! Spinal Muscular Atrophy with Congenital Bone Fractures [Term] id: DOID:9007556 name: Arima Syndrome alt_id: MIM:243910 synonym: "cerebro-oculo-hepato-renal syndrome" EXACT [] synonym: "chorioretinal coloboma with cerebellar vermis aplasia" EXACT [] synonym: "Dekaban Arima syndrome" EXACT [] synonym: "Joubert syndrome with bilateral chorioretinal coloboma" EXACT [] xref: MESH:C537430 is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:12270 ! coloboma is_a: DOID:225 ! syndrome is_a: DOID:2786 ! cerebellar disease [Term] id: DOID:9007557 name: Laryngeal Papillomatosis synonym: "Juvenile laryngeal papillomatosis" EXACT [] synonym: "Recurrent laryngeal papillomatosis" EXACT [] synonym: "Warts in the throat" EXACT [] xref: MESH:C537876 xref: RDO:0003787 is_a: DOID:2615 ! papilloma is_a: DOID:9003613 ! Laryngeal Neoplasms [Term] id: DOID:9007558 name: Acute Experimental Pancreatitis def: "Acute inflammation of the pancreas induced experimentally in laboratory animals." [] is_a: DOID:2913 ! acute pancreatitis is_a: DOID:9006263 ! Experimental Pancreatitis [Term] id: DOID:9007559 name: Thyroglossal Cyst def: "A cyst in the neck caused by persistence of portions of, or by lack of closure of, the primitive thyroglossal duct. (Dorland, 27th ed)" [MESH:D013955] synonym: "Thyroglossal Cysts" EXACT [] synonym: "Thyroglossal Duct Cyst" EXACT [] synonym: "Thyroglossal Duct Cysts" EXACT [] synonym: "Thyrolingual Cyst" EXACT [] synonym: "Thyrolingual Cysts" EXACT [] xref: EFO:1000585 xref: MESH:D013955 is_a: DOID:9007583 ! Cysts [Term] id: DOID:9007560 name: Neonatal Severe Encephalopathy with Lactic Acidosis and Brain Abnormalities def: "A severe autosomal recessive metabolic disorder characterized by onset at birth of progressive encephalopathy associated with increased serum lactate. Affected individuals have little or no psychomotor development and show brain abnormalities, including cerebral atrophy, cysts, and white matter abnormalities. (OMIM)" [] synonym: "lipoyltransferase 2 deficiency" EXACT [] synonym: "LIPT2D" EXACT [] synonym: "NELABA" EXACT [] xref: MIM:617668 is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:9007561 name: Premature Ovarian Failure 23 def: "A disease characterized by female infertility due to reduction of ovarian reserve. Caused by homozygous mutation in the MEIOB gene on chromosome 16p13." [MIM:620686] synonym: "POF23" EXACT [] synonym: "primary ovarian insufficiency 23" EXACT [] xref: MIM:620686 is_a: DOID:9002679 ! Premature Ovarian Failure, Familial created_by: tutajm creation_date: 2024-01-31T09:13:47Z [Term] id: DOID:9007562 name: Perifolliculitis Capitis Abscedens Et Suffodiens, Familial alt_id: MIM:260910 synonym: "Dissecting Cellulitis of the Scalp" EXACT [] xref: MESH:C562486 is_a: DOID:3136 ! scalp dermatosis is_a: DOID:3488 ! cellulitis is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9007563 name: Halal Setton Wang Syndrome synonym: "Hidrotic ectodermal dysplasia Halal type" EXACT [] xref: MESH:C535621 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:9007565 name: Fatal Pneumococcal Waterhouse-Friderichsen Syndrome alt_id: RDO:0002330 xref: MESH:C536685 is_a: DOID:9931 ! Waterhouse-Friderichsen syndrome [Term] id: DOID:9007567 name: Ritscher-Schinzel Syndrome 4 def: "Characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation, hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Caused by heterozygous mutation in the DPYSL5 gene on chromosome 2p23. (OMIM)" [] synonym: "RTSC4" EXACT [] xref: MIM:619435 is_a: DOID:0060565 ! Ritscher-Schinzel syndrome created_by: mtutaj creation_date: 2021-07-27T14:41:47Z [Term] id: DOID:9007568 name: Circulating Neoplastic Cells def: "Exfoliate neoplastic cells circulating in the blood and associated with metastasizing tumors." [MESH:D009360] synonym: "Circulating Neoplastic Cell" EXACT [] synonym: "Circulating Tumor Cell" EXACT [] synonym: "circulating tumor cells" EXACT [] synonym: "Embolic Tumor Cell" EXACT [] synonym: "Embolic Tumor Cells" EXACT [] synonym: "Neoplasm Circulating Cell" EXACT [] synonym: "Neoplasm Circulating Cells" EXACT [] synonym: "Tumor Embolism" EXACT [] synonym: "tumor embolisms" EXACT [] xref: MESH:D009360 is_a: DOID:9000965 ! Neoplasm Metastasis [Term] id: DOID:9007569 name: Incomplete Sertoli Cell-Only Syndrome xref: MESH:C564033 xref: RDO:0013132 is_a: DOID:14227 ! azoospermia is_a: DOID:225 ! syndrome [Term] id: DOID:9007570 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND MOVEMENT ABNORMALITIES def: "This disease is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with poor or absent speech, and delayed walking with an abnormal gait." [MIM:620445] synonym: "NEDMIM" EXACT [] xref: MIM:620445 is_a: DOID:10907 ! microcephaly is_a: DOID:480 ! movement disease is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2023-08-29T09:35:39Z [Term] id: DOID:9007571 name: Hyperlipoproteinemias def: "Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation." [MESH:D006951] synonym: "Hyperlipoproteinemia" EXACT [] xref: MESH:D006951 is_a: DOID:1168 ! familial hyperlipidemia [Term] id: DOID:9007572 name: Congenital Deafness, with Vitiligo and Achalasia alt_id: MIM:221350 xref: MESH:C565642 is_a: DOID:12306 ! vitiligo is_a: DOID:9008681 ! Deafness is_a: DOID:9164 ! achalasia [Term] id: DOID:9007573 name: Flatfoot def: "A foot anomaly in which one or more of the arches of the foot have flattened out." [MESH:D005413] synonym: "Acquired Adult Flatfoot Deformity" EXACT [] synonym: "CALCANEOVALGUS DEFORMITY" EXACT [] synonym: "Convex Foot" EXACT [] synonym: "Convex Pes Valgus" EXACT [] synonym: "Flat Feet" EXACT [] synonym: "Flatfeet" EXACT [] synonym: "Flat Foot" EXACT [] synonym: "Flexible Flatfoot" EXACT [] synonym: "Pes Planus" EXACT [] synonym: "Rigid Flatfoot" EXACT [] synonym: "Talipes Calcaneovalgus" EXACT [] synonym: "Talipes Valgus" EXACT [] synonym: "Vertical Talus" EXACT [] xref: EFO:0003874 xref: MESH:D005413 is_a: DOID:9007152 ! Talipes [Term] id: DOID:9007574 name: Osteoid Osteoma alt_id: MIM:259550 def: "Benign circumscribed tumor of SPONGY BONE occurring especially in the bones of the extremities and vertebrae, most often in young persons." [MESH:D010017] synonym: "Osteoid Osteomas" EXACT [] xref: MESH:D010017 xref: NCI:C3297 is_a: DOID:9004412 ! Osteoma [Term] id: DOID:9007575 name: chronic rhinosinusitis with nasal polyps def: "This is a type of chronic rhinosinusitis that is characterized by the presence of nasal polyps." [EFO:1002029] synonym: "CRSwNP" EXACT [] xref: EFO:1002029 is_a: DOID:9006771 ! Chronic Rhinosinusitis created_by: slaulede creation_date: 2023-02-24T16:26:48Z [Term] id: DOID:9007576 name: Scorpion Stings def: "The effects, both local and systemic, caused by the bite of SCORPIONS." [MESH:D065008] synonym: "Scorpionism" EXACT [] synonym: "Scorpionisms" EXACT [] synonym: "Scorpion Sting" EXACT [] xref: MESH:D065008 is_a: DOID:9002550 ! Bites and Stings [Term] id: DOID:9007577 name: Jervell And Lange-Nielsen Syndrome 2 alt_id: MIM:612347 synonym: "Jlns2" EXACT [] synonym: "KCNE1-RELATED CONDITION" BROAD [] xref: MESH:C567343 xref: RDO:0015438 is_a: DOID:2842 ! Jervell-Lange Nielsen syndrome [Term] id: DOID:9007578 name: LETM1-ASSOCIATED CLINICAL SPECTRUM WITH PREDOMINANT NERVOUS SYSTEM INVOLVEMENT def: "This is a disease syndrome which includes global developmental delay, developmental regression, loss of independent ambulation, decreased body weight, decreased body height, and various other symptoms." [] is_a: DOID:863 ! nervous system disease is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2022-06-27T14:29:33Z [Term] id: DOID:9007579 name: Arbovirus Infections def: "Infections caused by arthropod-borne viruses, general or unspecified." [MESH:D001102] synonym: "Arbovirus Infection" EXACT [] xref: EFO:1001269 xref: MESH:D001102 is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9007580 name: Elliott Ludman Teebi Syndrome xref: MESH:C536204 xref: RDO:0001684 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007581 name: Familial Atrial Fibrillation 6 alt_id: MIM:612201 alt_id: RDO:0015478 synonym: "ATFB6" EXACT [] synonym: "NPPA-RELATED CONDITION" BROAD [] xref: MESH:C567400 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9007582 name: Infantile Hyperuricemia with Abnormal Behavior and Normal Hypoxanthine Guanine Phosphoribosyltransferase alt_id: MIM:240000 xref: MESH:C565489 is_a: DOID:0060040 ! pervasive developmental disorder is_a: DOID:1059 ! intellectual disability is_a: DOID:1920 ! hyperuricemia is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:9007583 name: Cysts def: "Any fluid-filled closed cavity or sac that is lined by an EPITHELIUM. Cysts can be of normal, abnormal, non-neoplastic, or neoplastic tissues." [MESH:D003560] synonym: "Cyst" EXACT [] synonym: "Endometrial Cyst" NARROW [] synonym: "Nabothian Cyst" NARROW [] xref: EFO:1000232 xref: EFO:1000390 xref: MESH:D003560 is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9007584 name: Von Willebrand Factor, Deficiency alt_id: RDO:0000237 synonym: "REDUCED VON WILLEBRAND FACTOR ACTIVITY" EXACT [] xref: MESH:C531844 is_a: DOID:12531 ! von Willebrand's disease [Term] id: DOID:9007585 name: Postpartum Hemorrhage def: "Excess blood loss from uterine bleeding associated with OBSTETRIC LABOR or CHILDBIRTH. It is defined as blood loss greater than 500 ml or of the amount that adversely affects the maternal physiology, such as BLOOD PRESSURE and HEMATOCRIT. Postpartum hemorrhage is divided into two categories, immediate (within first 24 hours after birth) or delayed (after 24 hours postpartum)." [MESH:D006473] synonym: "Delayed Postpartum Hemorrhage" EXACT [] synonym: "Immediate Postpartum Hemorrhage" EXACT [] xref: EFO:0009579 xref: MESH:D006473 is_a: DOID:9000610 ! Obstetric Labor Complications is_a: DOID:9001791 ! Puerperal Disorders is_a: DOID:9006889 ! Uterine Hemorrhage [Term] id: DOID:9007586 name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER def: "This disease is characterized by speech delay and language difficulties, behavioral abnormalities, and variably impaired intellectual development (in most patients)." [MIM:620782] synonym: "NEDLAAD" EXACT [] xref: MIM:620782 is_a: DOID:1094 ! attention deficit hyperactivity disorder is_a: DOID:12849 ! autistic disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:93 ! language disorder created_by: slaulederkind creation_date: 2024-05-28T12:46:32Z [Term] id: DOID:9007587 name: Autosomal Dominant Intellectual Developmental Disorder 74 def: "A disease characterized by global developmental delay, including delay of gross and fine motor skills and speech delay, and variable subtle dysmorphic facial features. Caused by heterozygous mutation in the HNRNPC gene on chromosome 14q11." [MIM:620688] synonym: "MRD74" EXACT [] xref: MIM:620688 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: tutajm creation_date: 2024-02-05T09:33:01Z [Term] id: DOID:9007588 name: Heart Injuries def: "General or unspecified injuries to the heart." [MESH:D006335] synonym: "Heart Injury" EXACT [] synonym: "Traumatic Cardiac Rupture" EXACT [] synonym: "Traumatic Cardiac Ruptures" EXACT [] synonym: "Traumatic Heart Rupture" EXACT [] synonym: "Traumatic Heart Ruptures" EXACT [] xref: EFO:0009506 xref: MESH:D006335 is_a: DOID:9001954 ! Thoracic Injuries [Term] id: DOID:9007589 name: Ventriculomegaly with Defects of the Radius and Kidney alt_id: MIM:602200 xref: MESH:C566565 is_a: DOID:10908 ! hydrocephalus [Term] id: DOID:9007590 name: Gouty Arthritis def: "Arthritis, especially of the great toe, as a result of gout. Acute gouty arthritis often is precipitated by trauma, infection, surgery, etc. The initial attacks are usually monoarticular but later attacks are often polyarticular. Acute and chronic gouty arthritis are associated with accumulation of MONOSODIUM URATE in and around affected joints." [MESH:D015210] synonym: "Gouty Arthritides" EXACT [] xref: MESH:D015210 is_a: DOID:13189 ! gout [Term] id: DOID:9007591 name: Hypermetabolism due to Defect in Mitochondria alt_id: MIM:238800 synonym: "HUMOP1" EXACT [] synonym: "HYPERMETABOLISM DUE TO DEFECT IN MITOCHONDRIAL COUPLING" BROAD [] synonym: "Hypermetabolism due to uncoupled mitochondrial oxidative phosphorylation-1" EXACT [] synonym: "Luft syndrome" EXACT [] xref: MESH:C565498 is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9007592 name: Malocclusion, Angle Class I def: "Malocclusion in which the mandible and maxilla are anteroposteriorly normal as reflected by the relationship of the first permanent molar (i.e., in neutroclusion), but in which individual teeth are abnormally related to each other." [MESH:D008311] synonym: "Angle Class I" EXACT [] xref: MESH:D008311 xref: RDO:0006055 is_a: DOID:9000121 ! Malocclusion [Term] id: DOID:9007593 name: Naguib-Richieri-Costa Syndrome alt_id: MIM:239710 alt_id: RDO:0004296 synonym: "acrofrontofacionasal dysostosis 2" EXACT [] synonym: "Acrofrontofacionasal dysostosis, severe" EXACT [] synonym: "Acrofrontofacionasal Dysostosis with Genitourinary Anomalies" EXACT [] synonym: "Hypertelorism, Hypospadias, and Polysyndactyly Syndrome" EXACT [] synonym: "hypertelorism hypospadias polysyndactyly syndrome" EXACT [] synonym: "Naguib syndrome" EXACT [] xref: MESH:C538332 is_a: DOID:10892 ! hypospadias is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9003133 ! Hypertelorism [Term] id: DOID:9007594 name: Canine Hip Dysplasia def: "A hereditary disease of the hip joints in dogs. Signs of the disease may be evident any time after 4 weeks of age." [MESH:D006619] xref: MESH:D006619 is_a: DOID:9006855 ! Dog Diseases [Term] id: DOID:9007595 name: Asthma-Chronic Obstructive Pulmonary Disease Overlap Syndrome def: "Syndrome with clinical features of both ASTHMA and COPD. (MESH)" [] synonym: "Asthma-COPD Overlap Syndrome" EXACT [] xref: MESH:D000080445 is_a: DOID:3083 ! chronic obstructive pulmonary disease created_by: mtutaj creation_date: 2020-01-30T12:46:31Z [Term] id: DOID:9007596 name: Car Factor Deficiency alt_id: MIM:114650 xref: MESH:C566176 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:9007597 name: Thyroid Cancer, Nonmedullary, 5 alt_id: RDO:9000786 synonym: "NMTC5" EXACT [] synonym: "susceptibility to nonmedullary thyroid cancer-5" RELATED [] xref: MIM:616535 is_a: DOID:3969 ! papillary thyroid carcinoma [Term] id: DOID:9007598 name: gastric hemorrhage def: "This is bleeding from the gastric wall." [NCI:C54582] synonym: "stomach hemorrhage" EXACT [] xref: EFO:0009879 is_a: DOID:9008975 ! Gastrointestinal Hemorrhage created_by: slaulede creation_date: 2022-12-08T14:46:24Z [Term] id: DOID:9007599 name: Ocular Onchocerciasis def: "Filarial infection of the eyes transmitted from person to person by bites of Onchocerca volvulus-infected black flies. The microfilariae of Onchocerca are thus deposited beneath the skin. They migrate through various tissues including the eye. Those persons infected have impaired vision and up to 20% are blind. The incidence of eye lesions has been reported to be as high as 30% in Central America and parts of Africa." [MESH:D015827] synonym: "Ocular Onchocerciases" EXACT [] synonym: "River Blindness" EXACT [] xref: EFO:0007398 xref: MESH:D015827 is_a: DOID:11678 ! onchocerciasis is_a: DOID:9004432 ! Parasitic Eye Infections [Term] id: DOID:9007600 name: Renal and Mullerian Duct Hypoplasia alt_id: MIM:266810 xref: MESH:C564853 is_a: DOID:9001487 ! Facies is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9007601 name: endotoxin shock def: "When endotoxemia, a condition characterized by the presence of endotoxins (bacterial lipopolysacharrides) in the blood is accompanied by hypotension despite adequate fluid infusion, it is called endotoxin shock. On lysis of, or secretion by gram-negative bacteria, bacterial lipopolysacharride (LPS) enters the systemic circulation and initiates a pathophysiologic cascade of pro-inflammatory mediators." [https://en.wikipedia.org/wiki/Lipopolysaccharide, PMID:34715589] synonym: "endotoxic shock" EXACT [] synonym: "septic shock" BROAD [] xref: EFO:0006834 is_a: DOID:9005930 ! Endotoxemia created_by: slaulede creation_date: 2022-02-01T18:12:02Z [Term] id: DOID:9007602 name: Sillence Syndrome alt_id: MIM:113450 synonym: "Brachydactyly-distal symphalangism syndrome" EXACT [] xref: MESH:C537338 is_a: DOID:0050581 ! brachydactyly is_a: DOID:225 ! syndrome [Term] id: DOID:9007603 name: Bone Tissue Neoplasms alt_id: RDO:0006252 def: "Neoplasms composed of bony tissue, whether normal or of a soft tissue which has become ossified. The concept does not refer to neoplasms located in bones." [MESH:D018213] synonym: "bone tissue neoplasm" EXACT [] synonym: "Bony Tissue Neoplasm" EXACT [] synonym: "bony tissue neoplasms" EXACT [] xref: MESH:D018213 is_a: DOID:9003944 ! Connective Tissue Neoplasms [Term] id: DOID:9007604 name: Hemoglobin M Disease synonym: "HEMOGLOBIN M (SASKATOON)" RELATED [] xref: MESH:C581942 xref: RDO:0015941 is_a: DOID:10783 ! methemoglobinemia [Term] id: DOID:9007605 name: Renal Hypouricemia alt_id: MIM:220150 synonym: "Dalmatian hypouricemia" EXACT [] synonym: "HEREDITARY RENAL HYPOURICEMIA" EXACT [] synonym: "Hypouricemia, Renal, 1" EXACT [] synonym: "RHUC1" EXACT [] xref: MESH:C537757 is_a: DOID:447 ! renal tubular transport disease is_a: DOID:9003311 ! Urinary Calculi [Term] id: DOID:9007606 name: CHILTON-OKUR-CHUNG NEURODEVELOPMENTAL SYNDROME def: "This disease is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay." [MIM:619841] synonym: "CDC42BPB-RELATED DISORDER" EXACT [] synonym: "CDC42BPB-RELATED NEURODEVELOPMENTAL SYNDROME" EXACT [] synonym: "CHOCNS" EXACT [] xref: MIM:619841 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-06-10T13:49:48Z [Term] id: DOID:9007607 name: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES def: "This disease is an autosomal dominant disorder characterized by global developmental delay, impaired intellectual development, seizures, distinctive facial features, scoliosis, delayed closure of the anterior fontanel, and nonspecific brain abnormalities." [MIM:619797] synonym: "HDAC4-RELATED CONDITION" EXACT [] synonym: "NEDCHF" EXACT [] xref: MIM:619797 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2022-05-05T17:09:38Z [Term] id: DOID:9007608 name: Neoplastic Cell Transformation alt_id: MIM:614401 def: "Cell changes manifested by escape from control mechanisms, increased growth potential, alterations in the cell surface, karyotypic abnormalities, morphological and biochemical deviations from the norm, and other attributes conferring the ability to invade, metastasize, and kill." [MESH:D002471] synonym: "ACTFS" EXACT [] synonym: "Cell Neoplastic Transformations" EXACT [] synonym: "tumorigenic transformation" EXACT [] synonym: "tumorigenic transformations" EXACT [] xref: MESH:D002471 is_a: DOID:9007702 ! Carcinogenesis [Term] id: DOID:9007610 name: Freiberg's Disease synonym: "Freiberg's infraction" EXACT [] synonym: "Freiberg-Kohler syndrome" EXACT [] synonym: "Kohler's second disease" EXACT [] synonym: "Second metatarsal osteochondrosis" EXACT [] xref: MESH:C535636 is_a: DOID:9006161 ! Osteochondritis [Term] id: DOID:9007611 name: Chromosome 21 Ring xref: MESH:C537109 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9007612 name: Arachnoid Cysts alt_id: MIM:207790 def: "Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells. They are most often developmental or related to trauma. Intracranial arachnoid cysts usually occur adjacent to arachnoidal cistern and may present with HYDROCEPHALUS; HEADACHE; SEIZURES; and focal neurologic signs. (From Joynt, Clinical Neurology, 1994, Ch44, pp105-115)" [MESH:D016080] synonym: "Arachnoid Cyst" EXACT [] synonym: "Arachnoid Diverticula" EXACT [] synonym: "Arachnoid Diverticulas" EXACT [] synonym: "Intracranial Arachnoid Cyst" EXACT [] synonym: "Intracranial Arachnoid Cysts" EXACT [] synonym: "Leptomeningeal Cyst" EXACT [] synonym: "Leptomeningeal Cysts" EXACT [] xref: MESH:D016080 is_a: DOID:9003857 ! Central Nervous System Cysts [Term] id: DOID:9007614 name: Paroxysmal Atrial Fibrillation def: "A sudden onset and/or short duration of an abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart." [] synonym: "intermittent atrial fibrillation" EXACT [] synonym: "PAF" EXACT [] synonym: "paroxysmal atrial fibrillations" EXACT [] is_a: DOID:0060224 ! atrial fibrillation [Term] id: DOID:9007615 name: Primary Ciliary Dyskinesia 53 def: "An autosomal recessive disorder characterized by randomization of the left-right body asymmetry and respiratory symptoms. Caused by homozygous mutation in the calaxin gene (CLXN) on chromosome 8q11." [MIM:620642] synonym: "CILD53" EXACT [] xref: MIM:620642 xref: MONDO:0957991 is_a: DOID:9562 ! primary ciliary dyskinesia created_by: tutajm creation_date: 2023-12-04T13:00:08Z [Term] id: DOID:9007616 name: Polyglucosan Body Myopathy 1 with or without Immunodeficiency def: "An autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. (OMIM)" [] synonym: "PBMEI" EXACT [] synonym: "PGBM1" EXACT [] synonym: "polyglucosan body myopathy-1" EXACT [] synonym: "POLYGLUCOSAN BODY MYOPATHY 1 WITH IMMUNODEFICIENCY" NARROW [] synonym: "POLYGLUCOSAN BODY MYOPATHY 1 WITHOUT IMMUNODEFICIENCY" NARROW [] synonym: "POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH IMMUNODEFICIENCY" NARROW [] synonym: "POLYGLUCOSAN BODY MYOPATHY, EARLY-ONSET, WITH OR WITHOUT IMMUNODEFICIENCY" EXACT [] synonym: "POLYGLUCOSAN BODY MYOPATHY WITHOUT IMMUNODEFICIENCY" NARROW [] xref: MIM:615895 is_a: DOID:2747 ! glycogen storage disease is_a: DOID:9005532 ! Muscle Weakness created_by: rgd creation_date: 2017-03-30T00:00:00Z [Term] id: DOID:9007617 name: Conotruncal Cardiac Defects alt_id: MIM:217095 synonym: "CAFS" NARROW [] synonym: "CONOTRUNCAL ANOMALY FACE SYNDROME" NARROW [] synonym: "CONOTRUNCAL DEFECT" EXACT [] synonym: "conotruncal heart defect" EXACT [] synonym: "conotruncal heart malformations" EXACT [] synonym: "CTHM" EXACT [] synonym: "DORV" NARROW [] synonym: "DOUBLE-OUTLET RIGHT VENTRICLE" NARROW [] synonym: "INTERRUPTED AORTIC ARCH" NARROW [] synonym: "PERSISTENT TRUNCUS ARTERIOSUS" NARROW [] synonym: "PTA" NARROW [] synonym: "Truncus arteriosus communis" EXACT [] xref: EFO:0005679 xref: MESH:C535464 xref: MONDO:0016581 is_a: DOID:1682 ! congenital heart disease is_a: DOID:6406 ! double outlet right ventricle is_a: DOID:9003752 ! Persistent Truncus Arteriosus [Term] id: DOID:9007618 name: Fractures, Multiple def: "Injuries involving the breaking of either several bones or one bone in two or more places." [MESH:D000069076] synonym: "multiple bone fractures" EXACT [] synonym: "multiple fractures" EXACT [] xref: EFO:0009513 xref: MESH:D000069076 xref: RDO:0016005 is_a: DOID:9000367 ! Multiple Trauma is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9007619 name: Familial Mediterranean Fever, Autosomal Dominant synonym: "Familial Mediterranean fever, AD" EXACT [] synonym: "FMF, AUTOSOMAL DOMINANT" EXACT [] xref: MIM:134610 is_a: DOID:2987 ! familial Mediterranean fever [Term] id: DOID:9007620 name: Triple X Syndrome synonym: "47,Xxx" EXACT [] synonym: "47,XXX syndrome" EXACT [] synonym: "Super female" EXACT [] synonym: "Triple-X chromosome syndrome" EXACT [] synonym: "Triple-X female" EXACT [] synonym: "Triplo X syndrome" EXACT [] synonym: "Trisomy X" EXACT [] synonym: "XXX syndrome" EXACT [] xref: MESH:C535318 xref: NCI:C129718 xref: RDO:0000369 is_a: DOID:225 ! syndrome is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007621 name: Craniocerebral Trauma def: "Traumatic injuries involving the cranium and intracranial structures (i.e., BRAIN; CRANIAL NERVES; MENINGES; and other structures). Injuries may be classified by whether or not the skull is penetrated (i.e., penetrating vs. nonpenetrating) or whether there is an associated hemorrhage." [MESH:D006259] synonym: "Craniocerebral Injuries" EXACT [] synonym: "Craniocerebral Injury" EXACT [] synonym: "Craniocerebral Traumas" EXACT [] synonym: "Crushing Skull Injuries" EXACT [] synonym: "Crushing Skull Injury" EXACT [] synonym: "Forehead Trauma" EXACT [] synonym: "Forehead Traumas" EXACT [] synonym: "Frontal Region Trauma" EXACT [] synonym: "Frontal Region Traumas" EXACT [] synonym: "Head Injuries" EXACT [] synonym: "Head Injury" EXACT [] synonym: "Head Trauma" EXACT [] synonym: "Head Traumas" EXACT [] synonym: "Minor Head Injuries" EXACT [] synonym: "Minor Head Injury" EXACT [] synonym: "Multiple Head Injuries" EXACT [] synonym: "Multiple Head Injury" EXACT [] synonym: "Occipital Region Trauma" EXACT [] synonym: "Occipital Region Traumas" EXACT [] synonym: "Occipital Trauma" EXACT [] synonym: "Occipital Traumas" EXACT [] synonym: "Open Head Injuries" EXACT [] synonym: "Open Head Injury" EXACT [] synonym: "Parietal Region Trauma" EXACT [] synonym: "Parietal Region Traumas" EXACT [] synonym: "Superficial Head Injuries" EXACT [] synonym: "Superficial Head Injury" EXACT [] synonym: "Temporal Region Trauma" EXACT [] synonym: "Temporal Region Traumas" EXACT [] xref: EFO:0009505 xref: MESH:D006259 xref: RDO:0005059 is_a: DOID:9006062 ! Nervous System Trauma [Term] id: DOID:9007622 name: Acute Subdural Hematoma def: "Accumulation of blood in the SUBDURAL SPACE with acute onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status." [MESH:D020199] synonym: "acute subdural hematomas" EXACT [] synonym: "acute subdural hemorrhage" EXACT [] xref: MESH:D020199 is_a: DOID:9001521 ! Subdural Hematoma [Term] id: DOID:9007623 name: Late-Onset Carnitine Palmitoyltransferase II Deficiency alt_id: MIM:255110 alt_id: RDO:0012709 synonym: "Carnitine Palmitoyltransferase II Deficiency, Adult-Onset" EXACT [] synonym: "Carnitine Palmitoyltransferase II Deficiency, Myopathic" EXACT [] synonym: "CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED" EXACT [] synonym: "late-onset CPT2 deficiency" EXACT [] synonym: "myopathic CPT II deficiency" EXACT [] xref: MESH:C563461 is_a: DOID:0060235 ! carnitine palmitoyltransferase II deficiency is_a: DOID:0080000 ! muscular disease is_a: DOID:700 ! mitochondrial metabolism disease [Term] id: DOID:9007624 name: Frints De Smet Fabry Fryns Syndrome synonym: "Symbrachydactyly of the hand and foot" EXACT [] xref: GARD:1680 xref: MESH:C538062 xref: MONDO:0015516 xref: ORDO:1570 is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9007625 name: Primary Autosomal Recessive Microcephaly 28 def: "Characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood. Caused by homozygous mutation in the RRP7A gene on chromosome 22q13. (OMIM)" [] synonym: "MCPH28" EXACT [] xref: MIM:619453 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: mtutaj creation_date: 2021-07-29T16:16:52Z [Term] id: DOID:9007626 name: Myosclerosis, Autosomal Recessive alt_id: MIM:255600 synonym: "congenital myosclerosis of Lowenthal" EXACT [] synonym: "Myopathy, Myosclerotic" EXACT [] synonym: "MYOSCLEROSIS" EXACT [] xref: MESH:C564968 is_a: DOID:422 ! congenital structural myopathy [Term] id: DOID:9007627 name: Porokeratosis 1, Multiple Types def: "Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course. However, several families with expression of more than one variant of porokeratosis among members, and several individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Multiple types of porokeratosis (POROK1) are caused by heterozygous mutation in the PMVK gene gene on chromosome 1q21. (OMIM)" [] synonym: "Mibelli porokeratosis" EXACT [] synonym: "POROK1" EXACT [] synonym: "porokeratosis of Mibelli" EXACT [] xref: MIM:175800 is_a: DOID:3805 ! porokeratosis [Term] id: DOID:9007628 name: Immunodeficiency 118 def: "A disease characterized by increased susceptibility to the development of disseminated mycobacterial infections in infancy, notably after BCG vaccination. Caused by hemizygous mutation in the MCTS1 gene on chromosome Xq24." [MIM:301115] synonym: "IMD118" EXACT [] synonym: "Immunodeficiency 118, mycobacteriosis" EXACT [] synonym: "Immunodeficiency 118, mycobacteriosis, X-linked recessive" EXACT [] xref: MIM:301115 is_a: DOID:612 ! primary immunodeficiency disease created_by: tutajm creation_date: 2024-01-31T09:36:04Z [Term] id: DOID:9007629 name: Urological Manifestations def: "Clinical disturbances of the urinary system." [MESH:D020924] synonym: "Urological Manifestation" EXACT [] xref: MESH:D020924 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9007630 name: Parasitic Skin Diseases def: "Skin diseases caused by ARTHROPODS; HELMINTHS; or other parasites." [MESH:D012876] synonym: "Parasitic Skin Disease" EXACT [] synonym: "parasitic skin disorder" EXACT [] xref: MESH:D012876 is_a: DOID:1398 ! parasitic infectious disease is_a: DOID:9000859 ! Infectious Skin Diseases [Term] id: DOID:9007631 name: Intrauterine Device Migration def: "The shifting in position or location of an INTRAUTERINE DEVICE from its original placement." [MESH:D058736] synonym: "Intrauterine Device Migrations" EXACT [] synonym: "IUD Migration" EXACT [] synonym: "IUD Migrations" EXACT [] xref: MESH:D058736 xref: RDO:0007851 is_a: DOID:9005684 ! Foreign-Body Migration [Term] id: DOID:9007632 name: Encephalocraniocutaneous Lipomatosis alt_id: MIM:613001 synonym: "ECCL" EXACT [] synonym: "Fishman syndrome" EXACT [] xref: MESH:C535736 is_a: DOID:3153 ! lipomatosis is_a: DOID:5614 ! eye disease is_a: DOID:9001734 ! Neurocutaneous Syndromes [Term] id: DOID:9007633 name: Body Weight def: "The mass or quantity of heaviness of an individual. It is expressed by units of pounds or kilograms." [MESH:D001835] synonym: "Body Weights" EXACT [] synonym: "Not4Curation" RELATED [] xref: EFO:0004338 xref: MESH:D001835 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9007634 name: Wrist Injuries def: "Injuries to the wrist or the wrist joint." [MESH:D014954] synonym: "Wrist Injury" EXACT [] xref: MESH:D014954 xref: RDO:0006834 is_a: DOID:9003309 ! Arm Injuries [Term] id: DOID:9007635 name: Progressive Supranuclear Palsy 3 alt_id: MIM:610898 synonym: "PSNP3" EXACT [] xref: MESH:C567050 is_a: DOID:678 ! progressive supranuclear palsy [Term] id: DOID:9007636 name: Tick Bites def: "The effects, both local and systemic, caused by the bites of TICKS." [MESH:D064927] synonym: "Tick Bite" EXACT [] xref: MESH:D064927 is_a: DOID:9002550 ! Bites and Stings [Term] id: DOID:9007638 name: Photogenic Epilepsy with Spastic Diplegia and Mental Retardation alt_id: MIM:226800 xref: MESH:C565587 is_a: DOID:1059 ! intellectual disability is_a: DOID:10965 ! spastic diplegia is_a: DOID:1826 ! epilepsy [Term] id: DOID:9007639 name: Metabolic Side Effects of Drugs and Substances def: "Specific effects of drugs and substances on metabolic pathways such as those occurring through the CYTOCHROME P-450 ENZYME SYSTEM. These include effects that often result in DRUG INTERACTIONS; FOOD-DRUG INTERACTIONS; and HERB-DRUG INTERACTIONS." [MESH:D065606] synonym: "Drug Effects on Metabolism" EXACT [] synonym: "Metabolic Side Effects of Drugs" EXACT [] synonym: "Metabolic Side Effects of Substances" EXACT [] synonym: "Substance Effects on Metabolism" EXACT [] xref: MESH:D065606 xref: RDO:0015974 is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions [Term] id: DOID:9007640 name: Congenital Pseudoarthrosis xref: MESH:C535762 is_a: DOID:9007769 ! Pseudarthrosis [Term] id: DOID:9007641 name: Cataract and Congenital Ichthyosis alt_id: MIM:212400 synonym: "Syndromic cataract and congenital ichthyosis" EXACT [] xref: MESH:C538281 is_a: DOID:1697 ! ichthyosis is_a: DOID:83 ! cataract [Term] id: DOID:9007643 name: Embryonal Rhabdomyosarcoma 1 alt_id: MIM:268210 synonym: "Rhabdomyosarcoma 1" EXACT [] synonym: "Rhabdomyosarcoma Chromosomal Region" EXACT [] synonym: "RMS1" EXACT [] synonym: "RMSCR" EXACT [] synonym: "RMSE1" EXACT [] xref: MESH:C537883 is_a: DOID:3246 ! embryonal rhabdomyosarcoma [Term] id: DOID:9007645 name: Chromosome 15q, partial deletion synonym: "Deletion 15q1" EXACT [] synonym: "Deletion 15q25" EXACT [] synonym: "Monosomy 15q1" EXACT [] synonym: "Monosomy 15q25" EXACT [] xref: MESH:C538038 xref: RDO:0003972 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9007646 name: Chromosome 4, Trisomy 4q synonym: "Duplication 4q" EXACT [] synonym: "Trisomy 4q" EXACT [] xref: MESH:C537644 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007647 name: Trichiasis def: "A disease of the eye in which the eyelashes abnormally turn inwards toward the eyeball producing constant irritation caused by motion of the lids." [MESH:D058457] synonym: "Trichiases" EXACT [] xref: MESH:D058457 is_a: DOID:530 ! eyelid disease [Term] id: DOID:9007648 name: Thrombocytopenia 11 def: "A syndromic disorder characterized by dysmorphic facial features, multiple congenital anomalies that may involve the heart, brain, genitourinary, endocrine, and/or skeletal systems, chronic and persistent thrombocytopenia, sometimes with leukopenia or anemia, poor growth with microcephaly, hypotonia, and mildly impaired intellectual development or learning disabilities. Caused by heterozygous mutation in the RAP1B gene on chromosome 12q14." [MIM:620654] synonym: "THC11" EXACT [] synonym: "Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies" EXACT [] xref: MIM:620654 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities created_by: tutajm creation_date: 2024-01-05T15:20:35Z [Term] id: DOID:9007649 name: Congenital Disorder of Glycosylation Type IIaa def: "An autosomal recessive disorder characterized by infantile mortality due to liver disease, skeletal abnormalities, and protein glycosylation defects. Caused by homozygous mutation in the STX5 gene on chromosome 11q12." [MIM:620454] synonym: "CDG2AA" EXACT [] synonym: "CDG IIaa" EXACT [] synonym: "CDGIIAA" EXACT [] xref: MIM:620454 is_a: DOID:0050571 ! congenital disorder of glycosylation type II created_by: mtutaj creation_date: 2023-07-28T11:34:57Z [Term] id: DOID:9007650 name: Unconsciousness def: "Loss of the ability to maintain awareness of self and environment combined with markedly reduced responsiveness to environmental stimuli. (From Adams et al., Principles of Neurology, 6th ed, pp344-5)" [MESH:D014474] synonym: "Loss of Consciousness" EXACT [] synonym: "Unconscious State" EXACT [] synonym: "Unconscious States" EXACT [] xref: MESH:D014474 is_a: DOID:9000484 ! Consciousness Disorders [Term] id: DOID:9007651 name: Chronic Bronchitis def: "A subcategory of CHRONIC OBSTRUCTIVE PULMONARY DISEASE. The disease is characterized by hypersecretion of mucus accompanied by a chronic (more than 3 months in 2 consecutive years) productive cough. Infectious agents are a major cause of chronic bronchitis." [MESH:D029481] xref: EFO:0006505 xref: MESH:D029481 is_a: DOID:3083 ! chronic obstructive pulmonary disease is_a: DOID:6132 ! bronchitis [Term] id: DOID:9007652 name: C1q Deficiency 3 def: "A C1q deficiency caused by homozygous mutation in the C1QC gene on chromosome 1p36." [MIM:620322] synonym: "C1QD3" EXACT [] xref: MIM:620322 is_a: DOID:9007516 ! C1q Deficiency created_by: mtutaj creation_date: 2023-04-14T09:02:24Z [Term] id: DOID:9007653 name: Multiple Abnormalities def: "Congenital abnormalities that affect more than one organ or body structure." [MESH:D000015] synonym: "H3-3A-RELATED CONDITION" BROAD [] synonym: "H3F3A-RELATED CONDITION" NARROW [] synonym: "H3F3A-RELATED DISORDERS" BROAD [] synonym: "MULTIPLE CONGENITAL ANOMALIES" EXACT [] synonym: "Multiple congenital anomalies-hypotonia-seizures syndrome" NARROW [] synonym: "Multisystem Disorder" EXACT [] xref: MESH:D000015 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9007654 name: FAMILIAL HYPERTROPHIC CARDIOMYOPATHY 30, ATRIAL def: "A disease characterized by atrial arrhythmias, including flutter and fibrillation, atrial structural abnormalities with hypertrophic cardiomyopathy and fibrosis, and hypertension. Caused by homozygous mutation in the CORIN gene on chromosome 4p12." [MIM:620734] synonym: "CMH30" EXACT [] xref: MIM:620734 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy created_by: tutajm creation_date: 2024-03-18T11:52:11Z [Term] id: DOID:9007655 name: Propofol Infusion Syndrome def: "Rare and often fatal drug complication which affects patients undergoing long-term treatment with high doses of PROPOFOL. It is characterized by METABOLIC ACIDOSIS; HYPERLIPIDEMIA; RHABDOMYOLYSIS; cardiovascular CIRCULATORY COLLAPSE; CARDIAC FAILURE; and KIDNEY FAILURE." [MESH:D000072736] synonym: "Propofol Infusion Syndromes" EXACT [] synonym: "Propofol Related Infusion Syndrome" EXACT [] synonym: "Propofol-Related Infusion Syndromes" EXACT [] synonym: "Propofol Syndrome" EXACT [] synonym: "Propofol Syndromes" EXACT [] xref: MESH:D000072736 xref: RDO:0016125 is_a: DOID:225 ! syndrome is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions [Term] id: DOID:9007656 name: Laryngeal Adductor Paralysis alt_id: MIM:150270 synonym: "LAP" EXACT [] synonym: "Vocal Cord Dysfunction, Adductor Type" EXACT [] xref: MESH:C562861 xref: RDO:0012397 is_a: DOID:9000586 ! Vocal Cord Paralysis [Term] id: DOID:9007657 name: Chromosome 13q Deletion Syndrome alt_id: RDO:0000621 synonym: "13q deletion syndrome" EXACT [] synonym: "Chromosome 13q deletion" EXACT [] synonym: "Chromosome 13q monosomy" EXACT [] synonym: "Chromosome 13q syndrome" EXACT [] synonym: "Deletion 13q" EXACT [] synonym: "Monosomy 13q" EXACT [] synonym: "Monosomy 13q syndrome" EXACT [] synonym: "Orbeli's syndrome" EXACT [] synonym: "Orbeli syndrome" EXACT [] xref: MESH:C535484 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:9007658 name: McDonough Syndrome alt_id: MIM:248950 synonym: "Mental retardation, peculiar facies, kyphoscoliosis, diastasis recti, cryptorchidism, and congenital heart defect" EXACT [] xref: MESH:C538158 is_a: DOID:1059 ! intellectual disability is_a: DOID:11383 ! cryptorchidism is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:4667 ! kyphosis is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007659 name: Anthracycline-induced Cardiotoxicity def: "Cardiomyopathy in cancer patients caused by the use of the drug anthracyline." [] synonym: "acute ACT" NARROW [] synonym: "acute anthracycline-induced cardiomyopathy" NARROW [] synonym: "anthracycline-induced cardiomyopathy" EXACT [] synonym: "chronic ACT" NARROW [] is_a: DOID:9002371 ! Cardiotoxicity created_by: rgd creation_date: 2016-06-06T00:00:00Z [Term] id: DOID:9007660 name: Pallister-Hall-like Syndrome alt_id: MIM:241800 synonym: "CHHS" NARROW [] synonym: "congenital hypothalamic hamartoma syndrome" NARROW [] synonym: "hamartoma of the hypothalamus" EXACT [] synonym: "hypothalamic hamartoma" EXACT [] synonym: "hypothalamic hamartomas" EXACT [] synonym: "PHLS" EXACT [] xref: MESH:C537158 is_a: DOID:1931 ! hypothalamic disease is_a: DOID:9007253 ! Hamartoma [Term] id: DOID:9007661 name: Dwarfism alt_id: OMIA:001772 def: "A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height." [MESH:D004392] synonym: "DISPROPORTIONATE SHORT STATURE" NARROW [] synonym: "Nanism" EXACT [] synonym: "SD2" NARROW [] synonym: "short stature" EXACT [] synonym: "Skeletal dysplasia 2" NARROW [] xref: HP:0004322 xref: MESH:D004392 is_a: DOID:0080006 ! bone development disease is_a: DOID:28 ! endocrine system disease is_a: DOID:630 ! genetic disease [Term] id: DOID:9007662 name: Dwarfism with Tall Vertebrae alt_id: MIM:126950 synonym: "Dwarfism Tall Vertebrae" EXACT [] synonym: "Dwarfism with disproportionately high vertebral bodies" EXACT [] synonym: "Short stature and tall vertebrae" EXACT [] xref: MESH:C535725 is_a: DOID:9005560 ! Congenital Hip Dislocation is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9007663 name: Frontotemporal Pachygyria alt_id: MIM:610279 synonym: "Autosomal recessive frontotemporal pachygyria" EXACT [] xref: MESH:C538092 is_a: DOID:0050453 ! lissencephaly [Term] id: DOID:9007665 name: Bardet-Biedl Syndrome 1/7, Digenic is_a: DOID:0110123 ! Bardet-Biedl syndrome 1 is_a: DOID:0110129 ! Bardet-Biedl syndrome 7 created_by: slaulede creation_date: 2019-06-28T11:44:14Z [Term] id: DOID:9007666 name: Nanophthalmos 3 alt_id: MIM:611897 synonym: "Nanophthalmia 3" EXACT [] synonym: "NNO3" EXACT [] xref: MESH:C567498 is_a: DOID:0080634 ! nanophthalmos [Term] id: DOID:9007667 name: Heart Defects Limb Shortening alt_id: MIM:212135 synonym: "Cardioskeletal syndrome, Kuwaiti type" EXACT [] synonym: "Congenital heart disease and skeletal malformations" EXACT [] xref: MESH:C535850 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007668 name: Carnitine Palmitoyltransferase II Deficiency, Infantile alt_id: MIM:600649 alt_id: RDO:0012710 synonym: "carnitine palmitoyltransferase II deficiency with hypoketotic hypoglycemia" EXACT [] synonym: "hepatic CPT II deficiency" EXACT [] synonym: "hepatocardiomuscular carnitine palmitoyltransferase II deficiency" EXACT [] synonym: "infantile CPT2 deficiency" EXACT [] xref: MESH:C563462 is_a: DOID:0060235 ! carnitine palmitoyltransferase II deficiency is_a: DOID:409 ! liver disease is_a: DOID:9993 ! hypoglycemia [Term] id: DOID:9007669 name: Familial Capillaro-Venous Leptomeningeal Angiomatosis xref: MESH:C536609 is_a: DOID:9004079 ! Angiomatosis is_a: DOID:9007502 ! Brain Neoplasms [Term] id: DOID:9007670 name: Alopecia Areata 1 alt_id: MIM:104000 synonym: "AA1" EXACT [] synonym: "ALOPECIA UNIVERSALIS" NARROW [] synonym: "AU" NARROW [] xref: MESH:C566303 is_a: DOID:986 ! alopecia areata [Term] id: DOID:9007671 name: Familial Isolated Pituitary Adenoma alt_id: RDO:0011980 synonym: "familial isolated pituitary adenomas" EXACT [] xref: MESH:C566321 is_a: DOID:6255 ! growth hormone secreting pituitary adenoma [Term] id: DOID:9007672 name: Reardon Wilson Cavanagh Syndrome alt_id: MIM:208850 synonym: "ADR syndrome" EXACT [] synonym: "Ataxia-deafness-retardation syndrome" EXACT [] synonym: "Ataxia, hearing loss, and mental retardation" EXACT [] synonym: "Familial ataxia, deafness, and developmental delay" EXACT [] xref: MESH:C535295 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9004866 ! Ataxia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007673 name: Metatarsus Varus, Type I alt_id: MIM:156520 xref: MESH:C563585 is_a: DOID:9000067 ! Congenital Foot Deformities [Term] id: DOID:9007674 name: Keppen-Lubinsky Syndrome def: "A very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and characteristic dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth. (OMIM)" [] synonym: "KCNJ6-RELATED CONDITION" EXACT [] synonym: "KPLBS" EXACT [] xref: MIM:614098 xref: RDO:9001621 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:811 ! lipodystrophy is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007675 name: Pallister Killian Syndrome alt_id: MIM:601803 def: "Pallister-Killian syndrome is a dysmorphic condition involving most organ systems, but also characterized by a tissue-limited mosaicism; most fibroblasts have 47 chromosomes with an extra small metacentric chromosome, whereas the karyotype of lymphocytes is normal. The extra metacentric chromosome is an isochromosome for part of the short arm of chromosome 12: i(12)(p10). (OMIM)" [] synonym: "hexasomy 12p, mosaic" EXACT [] synonym: "Isochromosome 12p syndrome" EXACT [] synonym: "Pallister-Killian Mosaic Syndrome" EXACT [] synonym: "Pallister-Killian Syndrome" EXACT [] synonym: "PKS" EXACT [] synonym: "Teschler-Nicola-Killian Syndrome" EXACT [] synonym: "tetrasomy 12p, mosaic" EXACT [] xref: MESH:C538105 xref: NCI:C75458 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome [Term] id: DOID:9007676 name: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION def: "This disease is an autosomal recessive disorder characterized by recurrent fever and autoinflammation affecting various organ systems. The onset of symptoms is in infancy or early childhood. Laboratory studies show leukocytosis and inflammatory markers (C-reactive protein and erythrocyte sedimentation rate (ESR)), but immunoglobulins and other immune cells are essentially normal. Autoantibodies are not present. The features are consistent with immune dysregulation. Treatment with TNF inhibitors may result in significant clinical improvement." [MIM:620795] synonym: "AIFID" EXACT [] xref: MIM:620795 is_a: DOID:9000972 ! Fever is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: slaulederkind creation_date: 2024-05-09T15:29:31Z [Term] id: DOID:9007677 name: Autosomal Dominant Intellectual Developmental Disorder 67 def: "Characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Caused by heterozygous mutation in the GRIA1 gene on chromosome 5q33." [MIM:619927] synonym: "autosomal dominant mental retardation 67" EXACT [] synonym: "MRD67" EXACT [] xref: MIM:619927 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2022-06-30T16:33:56Z [Term] id: DOID:9007678 name: Dermatoosteolysis Kirghizian Type alt_id: MIM:221810 synonym: "Kirghizian dermatoosteolysis" EXACT [] xref: MESH:C535373 is_a: DOID:13714 ! anodontia is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4677 ! keratitis is_a: DOID:8549 ! chronic ulcer of skin is_a: DOID:9006081 ! Osteolysis [Term] id: DOID:9007679 name: Chronic recurrent multifocal osteomyelitis 3 def: "An autosomal dominant autoinflammatory bone disease characterized by early childhood onset of bone pain and arthritis caused by sterile osteomyelitis. Caused by heterozygous mutation in the IL1R1 gene on chromosome 2q12." [MIM:259680] synonym: "CRMO3" EXACT [] xref: MIM:259680 is_a: DOID:0060645 ! chronic recurrent multifocal osteomyelitis created_by: tutajm creation_date: 2024-04-30T13:13:18Z [Term] id: DOID:9007680 name: Nuclear Type Mitochondrial Complex I Deficiency 39 def: "An autosomal recessive nuclear disorder of mitochondrial respiratory chain complex I characterized by intrauterine growth retardation and anemia and postpartum hypertrophic cardiomyopathy, lactic acidosis, encephalopathy, and a severe complex I defect with a fatal outcome. Caused by homozygous mutation in NDUFB7 gene on chromosome 19p13." [MIM:620135] synonym: "MC1DN39" EXACT [] xref: MIM:620135 is_a: DOID:0112065 ! nuclear type mitochondrial complex I deficiency created_by: mtutaj creation_date: 2022-11-28T09:03:00Z [Term] id: DOID:9007681 name: Nonvital Tooth def: "A tooth from which the dental pulp has been removed or is necrotic. (Boucher, Clinical Dental Terminology, 4th ed)" [MESH:D019553] synonym: "Devitalized Teeth" EXACT [] synonym: "Devitalized Tooth" EXACT [] synonym: "Endodontically-Treated Teeth" EXACT [] synonym: "Endodontically-Treated Tooth" EXACT [] synonym: "Nonvital Teeth" EXACT [] synonym: "pulpless teeth" EXACT [] synonym: "pulpless tooth" EXACT [] xref: MESH:D019553 is_a: DOID:5330 ! dental pulp disease [Term] id: DOID:9007682 name: Trichohepatoneurodevelopmental Syndrome synonym: "global developmental delay with dysmorphic features, liver dysfunction, pruritus, and woolly hair" EXACT [] synonym: "THNS" EXACT [] xref: MIM:618268 is_a: DOID:225 ! syndrome is_a: DOID:409 ! liver disease is_a: DOID:421 ! hair disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006202 ! Pruritus created_by: mtutaj creation_date: 2019-04-09T14:21:33Z [Term] id: DOID:9007684 name: Cutaneous Small Vessel Lymphocytic Vasculitis alt_id: MIM:609817 xref: MESH:C565222 is_a: DOID:865 ! vasculitis [Term] id: DOID:9007685 name: Cytosolic Acetoacetyl-CoA Thiolase Deficiency alt_id: MIM:614055 synonym: "ACAT2D" EXACT [] synonym: "Acat2 Deficiency" EXACT [] synonym: "Acetocoenzyme A acetyltransferase 2 deficiency" EXACT [] synonym: "Acetyl-coa acetyltransferase 2 deficiency" EXACT [] xref: MESH:C536005 xref: RDO:0001412 is_a: DOID:3146 ! lipid metabolism disorder [Term] id: DOID:9007686 name: Cerebrocortical Degeneration of Infancy alt_id: MIM:213950 xref: MESH:C565863 is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:9007687 name: Weil Disease alt_id: MESH:C540322 def: "A severe form of LEPTOSPIROSIS, usually caused by LEPTOSPIRA INTERROGANS SEROVAR ICTEROHAEMORRHAGIAE and occasionally other serovars. It is transmitted to humans by the rat and is characterized by hemorrhagic and renal symptoms with accompanying JAUNDICE." [MESH:D014895] synonym: "canicola fever" EXACT [] synonym: "hemorrhagic jaundice" EXACT [] synonym: "icterohemorrhagic fever" EXACT [] synonym: "icterohemorrhagic leptospirosis" EXACT [] synonym: "Swineherd's disease" EXACT [] synonym: "Weil's disease" EXACT [] synonym: "Weils disease" EXACT [] xref: MESH:D014895 is_a: DOID:2297 ! leptospirosis [Term] id: DOID:9007688 name: Chronic Subdural Hematoma def: "Accumulation of blood in the SUBDURAL SPACE with delayed onset of neurological symptoms. Symptoms may include loss of consciousness, severe HEADACHE, and deteriorating mental status." [MESH:D020200] synonym: "chronic subdural hematomas" EXACT [] synonym: "chronic subdural hemorrhage" EXACT [] xref: MESH:D020200 is_a: DOID:9001521 ! Subdural Hematoma [Term] id: DOID:9007690 name: Vulvar Dysesthesia Localized in the Vestibule xref: MESH:C548479 xref: RDO:0004672 is_a: DOID:9006388 ! Vulvar Vestibulitis [Term] id: DOID:9007691 name: Fat Necrosis alt_id: RDO:0005576 def: "A condition in which the death of adipose tissue results in neutral fats being split into fatty acids and glycerol." [MESH:D005218] synonym: "Fat Necroses" EXACT [] synonym: "Steatonecroses" EXACT [] synonym: "Steatonecrosis" EXACT [] xref: MESH:D005218 is_a: DOID:9005749 ! Necrosis [Term] id: DOID:9007692 name: Insulin Resistance def: "Diminished effectiveness of INSULIN in lowering blood sugar levels: requiring the use of 200 units or more of insulin per day to prevent HYPERGLYCEMIA or KETOSIS." [MESH:D007333] synonym: "FATTY ACID-BINDING PROTEIN, INTESTINAL, POLYMORPHISM OF" RELATED [] synonym: "Insulin Resistance, Susceptibility To" RELATED [] synonym: "Insulin Resistance Syndrome, Type A" NARROW [] synonym: "Insulin Sensitivity" EXACT [] synonym: "Serum hdl cholesterol level, modifier of" RELATED [] xref: EFO:0002614 xref: MESH:D007333 xref: RDO:0003504 is_a: DOID:2018 ! hyperinsulinism [Term] id: DOID:9007693 name: CAPOS Syndrome alt_id: MIM:601338 synonym: "CAPOS" EXACT [] synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss" EXACT [] synonym: "cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss" EXACT [] xref: MESH:C535351 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9005219 ! Abnormal Reflexes [Term] id: DOID:9007694 name: COACH Syndrome 3 synonym: "COACH3" EXACT [] xref: MIM:619113 is_a: DOID:0111589 ! COACH syndrome created_by: mtutaj creation_date: 2020-12-02T10:45:20Z [Term] id: DOID:9007695 name: Coloboma of Alar-Nasal Cartilages with Telecanthus synonym: "alar cartilages hypoplasia-coloboma-telecanthus syndrome" EXACT [] synonym: "frontonasal dysplasia with alar clefts" EXACT [] xref: GARD:588 xref: MESH:C535967 xref: MIM:203000 xref: MONDO:0008744 xref: ORDO:2007 is_a: DOID:10348 ! blepharophimosis is_a: DOID:12270 ! coloboma is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9007696 name: Parathyroid Cancer synonym: "cancer of parathyroid" EXACT [] synonym: "cancer of the parathyroid" EXACT [] synonym: "parathyroid cancers" EXACT [] xref: RDO:9003919 is_a: DOID:170 ! endocrine gland cancer is_a: DOID:9004331 ! Parathyroid Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:9007697 name: Charcot-Marie-Tooth Disease Type 6A synonym: "Charcot-Marie-Tooth disease 6A" EXACT [] synonym: "CMT6A" EXACT [] synonym: "hereditary motor and sensory neuropathy, type VIA" EXACT [] synonym: "hereditary motor and sensory neuropathy, type VIA, with optic atrophy" EXACT [] synonym: "HMSN6A" EXACT [] synonym: "HMSN VIA" EXACT [] xref: MIM:601152 is_a: DOID:0080068 ! Charcot-Marie-Tooth disease type 6 created_by: mtutaj creation_date: 2019-09-09T09:38:13Z [Term] id: DOID:9007698 name: Copper Deficiency, Familial Benign alt_id: MIM:121270 synonym: "Familial benign hypocupremia" EXACT [] xref: MESH:C535468 is_a: DOID:11832 ! visual epilepsy is_a: DOID:421 ! hair disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:8741 ! seborrheic dermatitis [Term] id: DOID:9007699 name: Capillary Leak Syndrome with Monoclonal Gammopathy synonym: "Periodic systemic capillary leak syndrome" EXACT [] xref: MESH:C535573 is_a: DOID:14400 ! capillary leak syndrome is_a: DOID:9005358 ! Hypergammaglobulinemia [Term] id: DOID:9007700 name: Congenital Corneal Opacities, Cornea Guttata, and Corectopia alt_id: MIM:608484 synonym: "Corneal Opacities, Congenital, with Cornea Guttata and Corectopia" EXACT [] xref: MESH:C563921 is_a: DOID:238 ! pupil disease is_a: DOID:2566 ! corneal dystrophy [Term] id: DOID:9007701 name: Central Nervous System Neoplasms def: "Benign and malignant neoplastic processes that arise from or secondarily involve the brain, spinal cord, or meninges." [MESH:D016543] synonym: "central nervous system tumor" EXACT [] synonym: "central nervous system tumors" EXACT [] synonym: "neoplasm of central nervous system" EXACT [] synonym: "neoplasm of the central nervous system" EXACT [] synonym: "primary central nervous system neoplasms" EXACT [] xref: EFO:1000158 xref: MESH:D016543 xref: NCI:C9293 is_a: DOID:331 ! central nervous system disease is_a: DOID:9006557 ! Nervous System Neoplasms [Term] id: DOID:9007702 name: Carcinogenesis def: "The origin, production or development of cancer through genotypic and phenotypic changes which upset the normal balance between cell proliferation and cell death. Carcinogenesis generally requires a constellation of steps, which may occur quickly or over a period of many years." [MESH:D063646] synonym: "Carcinogeneses" EXACT [] synonym: "Oncogeneses" EXACT [] synonym: "Oncogenesis" EXACT [] synonym: "Tumorigeneses" EXACT [] synonym: "Tumorigenesis" EXACT [] xref: MESH:D063646 is_a: DOID:9008192 ! Neoplastic Processes [Term] id: DOID:9007703 name: Phenacetin O-Deethylase, Deficiency of alt_id: OMIA:001405 synonym: "Metabolizer of a cognitive enhancer" RELATED [] synonym: "PHENACETIN METABOLISM, DEFECT IN" EXACT [] xref: MESH:C565127 xref: RDO:0013854 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9007704 name: Physical Microtrauma def: "Small injuries caused by external force applied to the body including bones, muscles, nerves and tendons." [MESH:D000070617] synonym: "Physical Micro Trauma" EXACT [] synonym: "Physical Micro Traumas" EXACT [] synonym: "Physical Microtraumas" EXACT [] xref: MESH:D000070617 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9007705 name: Severe Mental Retardation, with Spasticity and Pigmentary Tapetoretinal Degeneration alt_id: MIM:602685 synonym: "MRST" EXACT [] xref: MESH:C566429 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:9007706 name: MASS Syndrome alt_id: MIM:604308 synonym: "Mass phenotype" EXACT [] synonym: "OCTD" EXACT [] synonym: "Overlap connective tissue disease" EXACT [] xref: MESH:C536030 is_a: DOID:11830 ! myopia is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:988 ! mitral valve prolapse [Term] id: DOID:9007707 name: BCG and Salmonella Infection, Disseminated xref: MESH:C565908 xref: RDO:0014422 is_a: DOID:9004729 ! Nontuberculous Mycobacterium Infections [Term] id: DOID:9007708 name: Glaucoma 1, Open Angle, E xref: MESH:C564233 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9007709 name: Membranoproliferative Glomerulonephritis, X-Linked alt_id: MIM:305800 synonym: "Mesangiocapillary Glomerulonephritis, X-Linked" EXACT [] xref: MESH:C564423 xref: RDO:0013392 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:2920 ! membranoproliferative glomerulonephritis [Term] id: DOID:9007710 name: GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE def: "A severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. (OMIM)" [] xref: MIM:617301 is_a: DOID:9268 ! glycine encephalopathy [Term] id: DOID:9007711 name: ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis synonym: "CLDN1-RELATED CONDITION" EXACT [] synonym: "Ichthyosis-Sclerosing Cholangitis Syndrome" EXACT [] synonym: "ILVASC" EXACT [] synonym: "Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome" EXACT [] synonym: "Nisch syndrome" EXACT [] xref: MESH:C564365 xref: MIM:607626 xref: MONDO:0011874 is_a: DOID:14268 ! sclerosing cholangitis is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9500 ! leukocyte disease is_a: DOID:987 ! alopecia [Term] id: DOID:9007712 name: Adenosine Monophosphate Deaminase Deficiency xref: MESH:C538234 is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:9007713 name: Hypospadias 3, Autosomal alt_id: MIM:146450 synonym: "HYSP3" EXACT [] xref: MESH:C567191 is_a: DOID:10892 ! hypospadias [Term] id: DOID:9007714 name: Mental and Growth Retardation with Amblyopia alt_id: MIM:156190 xref: MESH:C563591 is_a: DOID:10376 ! amblyopia is_a: DOID:1059 ! intellectual disability is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9007715 name: Endometrial Neoplasms alt_id: RDO:0007008 def: "Tumors or cancer of ENDOMETRIUM, the mucous lining of the UTERUS. These neoplasms can be benign or malignant. Their classification and grading are based on the various cell types and the percent of undifferentiated cells." [MESH:D016889] synonym: "Endometrial Neoplasm" EXACT [] xref: EFO:0004230 xref: MESH:D016889 is_a: DOID:1005 ! endometrial disease is_a: DOID:9004268 ! Uterine Neoplasms [Term] id: DOID:9007717 name: Chromosome 8p Deletion Syndrome (partial) synonym: "8p deletion syndrome (partial)" EXACT [] synonym: "8p- syndrome (partial)" EXACT [] synonym: "Chromosome 8, monosomy 8p2" EXACT [] synonym: "Chromosome 8, monosomy 8p21-pter" EXACT [] synonym: "Chromosome 8, partial deletion (short arm)" EXACT [] synonym: "Chromosome 8, partial monosomy 8p2" EXACT [] xref: MESH:C537826 xref: RDO:0003730 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9007718 name: Platelet-Type Bleeding Disorder 22 synonym: "BDPLT22" EXACT [] xref: MIM:618462 is_a: DOID:2218 ! blood platelet disease created_by: mtutaj creation_date: 2019-06-25T13:52:24Z [Term] id: DOID:9007719 name: Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2 synonym: "DMJDS2" EXACT [] synonym: "spastic tetraparesis, dystonia, developmental delay, and structural abnormalities of the basal ganglia" EXACT [] xref: MIM:618646 is_a: DOID:9002171 ! Diencephalic-Mesencephalic Junction Dysplasia Syndromes is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities created_by: mtutaj creation_date: 2019-10-31T12:39:56Z [Term] id: DOID:9007721 name: Renal Hypouricemia, 2 alt_id: MIM:612076 synonym: "GOUT2" NARROW [] synonym: "GOUT SUSCEPTIBILITY 2" RELATED [] synonym: "RHUC2" EXACT [] synonym: "SLC2A9-RELATED CONDITION" EXACT [] xref: MESH:C567426 is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:9007722 name: Myoclonus def: "Involuntary shock-like contractions, irregular in rhythm and amplitude, followed by relaxation, of a muscle or a group of muscles. This condition may be a feature of some CENTRAL NERVOUS SYSTEM DISEASES; (e.g., EPILEPSY, MYOCLONIC). Nocturnal myoclonus is the principal feature of the NOCTURNAL MYOCLONUS SYNDROME. (From Adams et al., Principles of Neurology, 6th ed, pp102-3)." [MESH:D009207] synonym: "action myoclonus" EXACT [] synonym: "eyelid myoclonus" EXACT [] synonym: "Intention Myoclonus" EXACT [] synonym: "lower extremity myoclonus" EXACT [] synonym: "Myoclonic Jerk" EXACT [] synonym: "Myoclonic Jerking" EXACT [] synonym: "Myoclonic Jerks" EXACT [] synonym: "Myoclonus Simplex" EXACT [] synonym: "Nocturnal Myoclonus" EXACT [] synonym: "Oculopalatal Myoclonus" EXACT [] synonym: "Palatal Myoclonus" EXACT [] synonym: "Polymyoclonus" EXACT [] synonym: "segmental myoclonus" EXACT [] synonym: "sleep myoclonus" EXACT [] synonym: "upper extremity myoclonus" EXACT [] xref: MESH:D009207 xref: MIM:PS614937 is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9007724 name: Hemorrhagic Septicemia def: "Any of several bacterial diseases, usually caused by PASTEURELLA MULTOCIDA, marked by the presence of hemorrhagic areas in the subcutaneous tissues, serous membranes, muscles, lymph glands, and throughout the internal organs. The diseases primarily affect animals and rarely humans." [MESH:D006483] synonym: "Haemorrhagic Bacteremia" EXACT [] synonym: "Haemorrhagic Septicaemia" EXACT [] synonym: "Haemorrhagic Septicemia" EXACT [] synonym: "Hemorrhagic Bacteremia" EXACT [] synonym: "Hemorrhagic Septicaemia" EXACT [] synonym: "Pasteurella hemorrhagic septicemia" EXACT [] xref: EFO:1001091 xref: MESH:D006483 is_a: DOID:11055 ! pasteurellosis is_a: DOID:9005036 ! Bacteremia [Term] id: DOID:9007725 name: Chromosome 11q Trisomy synonym: "Duplication 11q" EXACT [] synonym: "Trisomy 11q" EXACT [] xref: MESH:C538297 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007727 name: Alcohol-Induced Disorders, Nervous System def: "Acute and chronic neurologic disorders associated with the various neurologic effects of ETHANOL. Primary sites of injury include the brain and peripheral nerves." [MESH:D020268] synonym: "Alcohol Abuse, Nervous System" EXACT [] synonym: "Ethanol Induced Nervous System Disorders" EXACT [] synonym: "Ethyl Alcohol Abuse Neurologic Syndromes" EXACT [] xref: MESH:D020268 xref: RDO:0004793 is_a: DOID:3602 ! toxic encephalopathy is_a: DOID:9004354 ! Alcohol-Related Disorders [Term] id: DOID:9007728 name: Heavy Chain Disease Proteins, Human xref: MESH:C032598 is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:9007729 name: Multiple Basal Cell Carcinoma alt_id: RDO:0003533 xref: MESH:C537656 is_a: DOID:0080191 ! PTEN hamartoma tumor syndrome is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:9007730 name: Burns def: "Injuries to tissues caused by contact with heat, steam, chemicals (BURNS, CHEMICAL), electricity (BURNS, ELECTRIC), or the like." [MESH:D002056] synonym: "Burn" EXACT [] synonym: "thermal burn" NARROW [] xref: EFO:0009516 xref: EFO:0020910 xref: MESH:D002056 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9007731 name: Medial Tibial Stress Syndrome def: "SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity." [MESH:D058923] synonym: "Medial Tibial Stress Syndrome (MTSS)" EXACT [] synonym: "Shin Splint" EXACT [] synonym: "Shin Splints" EXACT [] xref: EFO:1001367 xref: MESH:D058923 is_a: DOID:0080000 ! muscular disease is_a: DOID:225 ! syndrome is_a: DOID:9008911 ! Leg Injuries [Term] id: DOID:9007732 name: Squalene Synthase Deficiency def: "An autosomal recessive disorder characterized by profound developmental delay, brain abnormalities, 2/3 syndactyly of the toes, and facial dysmorphisms, as well as low total and LDL-cholesterol and abnormal urine organic acids." [MIM:618156] synonym: "FDFT1-RELATED CONDITION" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH LOW CHOLESTEROL AND ABNORMAL URINE ORGANIC ACIDS" EXACT [] synonym: "SQSD" EXACT [] xref: EFO:0010167 xref: MIM:618156 is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2019-06-21T11:24:35Z [Term] id: DOID:9007733 name: Familial Renal Hypouricemia due to Tubular Hypersecretion alt_id: MIM:307830 synonym: "FAMILIAL RENAL HYPOURICEMIA" EXACT [] xref: MESH:C564405 is_a: DOID:447 ! renal tubular transport disease [Term] id: DOID:9007734 name: 1q24 Deletion Syndrome synonym: "1Q24-Q25 MICRODELETION SYNDROME" EXACT [] synonym: "1Q24Q25 MICRODELETION SYNDROME" EXACT [] is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2019-06-24T09:54:06Z [Term] id: DOID:9007735 name: Antibody Deficiency due to Defect in CD19 xref: MESH:C566275 xref: RDO:0014673 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9007736 name: Vertigo def: "An illusion of movement, either of the external world revolving around the individual or of the individual revolving in space. Vertigo may be associated with disorders of the inner ear (EAR, INNER); VESTIBULAR NERVE; BRAINSTEM; or CEREBRAL CORTEX. Lesions in the TEMPORAL LOBE and PARIETAL LOBE may be associated with FOCAL SEIZURES that may feature vertigo as an ictal manifestation. (From Adams et al., Principles of Neurology, 6th ed, pp300-1)" [MESH:D014717] synonym: "Constant Vertigo" EXACT [] synonym: "Essential Vertigo" EXACT [] synonym: "Intermittant Vertigo" EXACT [] synonym: "Paroxysmal Vertigo" EXACT [] synonym: "Positional Vertigo" EXACT [] synonym: "Spinning Sensation" EXACT [] synonym: "Subjective Vertigo" EXACT [] synonym: "vertigos" EXACT [] xref: MESH:D014717 is_a: DOID:3426 ! vestibular disease is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9007737 name: Parkinson's Disease 11 alt_id: RDO:0009130 synonym: "GIGYF2-RELATED CONDITION" EXACT [] synonym: "PARK11" EXACT [] synonym: "Parkinson's Disease 11, Autosomal Dominant, Susceptibility To" RELATED [] synonym: "Parkinson Disease 11" EXACT [] synonym: "Parkinson Disease 11, Autosomal Dominant, Susceptibility To" RELATED [] xref: MESH:C564345 xref: MIM:607688 xref: RDO:0013345 is_a: DOID:14330 ! Parkinson's disease [Term] id: DOID:9007738 name: Broca Aphasia def: "An aphasia characterized by impairment of expressive LANGUAGE (speech, writing, signs) and relative preservation of receptive language abilities (i.e., comprehension). This condition is caused by lesions of the motor association cortex in the FRONTAL LOBE (BROCA AREA and adjacent cortical and white matter regions)." [MESH:D001039] synonym: "Agrammatic Broca's Aphasia" EXACT [] synonym: "Agrammatic Broca's Aphasias" EXACT [] synonym: "Agrammatic Broca Aphasia" EXACT [] synonym: "Agrammatic Broca Aphasias" EXACT [] synonym: "Agrammatic Brocas Aphasia" EXACT [] synonym: "Agrammatism" EXACT [] synonym: "Anterior Aphasia" EXACT [] synonym: "Anterior Aphasias" EXACT [] synonym: "Ataxic Aphasia" EXACT [] synonym: "Ataxic Aphasias" EXACT [] synonym: "Broca's Dysphasia" EXACT [] synonym: "Broca Aphasias" EXACT [] synonym: "Broca Dysphasia" EXACT [] synonym: "Dysphasia, Brocas" EXACT [] synonym: "Expressive Aphasia" EXACT [] synonym: "Frontocortical Aphasia" EXACT [] synonym: "Frontocortical Aphasias" EXACT [] synonym: "Motor Aphasia" EXACT [] synonym: "Nonfluent Aphasia" EXACT [] synonym: "Verbal Aphasia Syndrome" EXACT [] synonym: "Verbal Aphasia Syndromes" EXACT [] xref: MESH:D001039 is_a: DOID:0060046 ! aphasia [Term] id: DOID:9007739 name: Craniofacial Dysostosis with Diaphyseal Hyperplasia alt_id: MIM:122900 synonym: "Osteosclerosis, Stanescu Type" EXACT [] xref: MESH:C562974 is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:4254 ! osteosclerosis [Term] id: DOID:9007740 name: Familial Hypophosphatemia def: "An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME." [MESH:D007015] synonym: "Familial Hypophosphatemias" EXACT [] synonym: "Hyperphosphaturia" EXACT [] synonym: "Phosphate Diabetes" EXACT [] synonym: "Phosphaturia" EXACT [] xref: MESH:D007015 is_a: DOID:0050336 ! hypophosphatemia is_a: DOID:447 ! renal tubular transport disease is_a: DOID:896 ! metal metabolism disorder [Term] id: DOID:9007741 name: Early-Onset Glaucoma synonym: "Hereditary Glaucoma" EXACT [] xref: MESH:C580055 is_a: DOID:1686 ! glaucoma [Term] id: DOID:9007742 name: B-Cell Immunodeficiency, Distal Limb Anomalies, and Urogenital Malformations alt_id: MIM:609296 synonym: "BILU Syndrome" EXACT [] synonym: "Hoffman Syndrome" EXACT [] synonym: "TOP2B-RELATED CONDITION" EXACT [] xref: MESH:C563745 is_a: DOID:2115 ! B cell deficiency is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007743 name: Generalized Thyroid Hormone Resistance, Autosomal Dominant synonym: "GRTHD" EXACT [] synonym: "Hyperthyroxinemia, Familial Euthyroid, Secondary To Pituitary And Peripheral Resistance To Thyroid Hormones" EXACT [] xref: MESH:C567934 xref: MIM:188570 xref: MONDO:0008569 is_a: DOID:11633 ! thyroid hormone resistance syndrome [Term] id: DOID:9007744 name: Mandibuloacral Dysplasia Progeroid Syndrome synonym: "MDPS" EXACT [] synonym: "PROGEROID MANDIBULOACRAL DYSPLASIA" EXACT [] xref: MIM:619127 is_a: DOID:3911 ! progeria is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2020-12-18T11:36:32Z [Term] id: DOID:9007745 name: Major Affective Disorder 5 alt_id: MIM:611535 synonym: "MAFD5" EXACT [] xref: MESH:C567074 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:9007746 name: Glaucoma 1, Open Angle, O alt_id: MIM:613100 synonym: "Glc1o" EXACT [] synonym: "Primary Open Angle Glaucoma-1O" EXACT [] xref: MESH:C567753 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9007747 name: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation alt_id: MIM:611105 synonym: "LBSL" EXACT [] synonym: "LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION" EXACT [] synonym: "Mitochondrial Aspartyl-tRNA Synthetase Deficiency" EXACT [] xref: MESH:C567009 xref: NCI:C188991 xref: RDO:0015198 is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:9007748 name: Retinal Neovascularization def: "Formation of new blood vessels originating from the retinal veins and extending along the inner (vitreal) surface of the retina." [MESH:D015861] xref: MESH:D015861 xref: RDO:0006930 is_a: DOID:5679 ! retinal disease is_a: DOID:9002493 ! Ocular Neovascularization is_a: DOID:9003204 ! Neovascularization, Pathologic [Term] id: DOID:9007749 name: Ellis Yale Winter Syndrome xref: MESH:C536205 is_a: DOID:10907 ! microcephaly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007750 name: Lissencephaly Type III and Bone Dysplasia alt_id: MIM:601160 xref: MESH:C563383 is_a: DOID:0080006 ! bone development disease is_a: DOID:0112232 ! lissencephaly 3 [Term] id: DOID:9007751 name: Hypocholesterolemia def: "A decreased concentration of cholesterol in the blood." [] synonym: "Hypocholesteremia" EXACT [] xref: RDO:9000334 is_a: DOID:9003370 ! Dyslipidemias [Term] id: DOID:9007752 name: Chronic Relapsing Experimental Autoimmune Encephalomyelitis def: "A chronic relapsing-remitting version of EAE, an experimental animal model for central nervous system demyelinating disease in which demyelination is extensive." [] synonym: "chronic relapsing EAE" EXACT [] synonym: "chronic relapsing experimental allergic encephalomyelitis" EXACT [] synonym: "chronic relapsing-remitting EAE" EXACT [] synonym: "CR-EAE" EXACT [] synonym: "CREAE" EXACT [] xref: RDO:9000096 is_a: DOID:9002763 ! Experimental Autoimmune Encephalomyelitis [Term] id: DOID:9007753 name: Congenital Heart Defects, Multiple Types, 2 synonym: "CHTD2" EXACT [] synonym: "Congenital Heart Disease, Multiple Types, 2" EXACT [] synonym: "TAB2-RELATED CONDITION" EXACT [] xref: MIM:614980 is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types [Term] id: DOID:9007754 name: Congenital Hypoplastic Anemia with Multiple Congenital Anomalies/Mental Retardation Syndrome alt_id: MIM:604315 xref: MESH:C565796 is_a: DOID:1059 ! intellectual disability is_a: DOID:1342 ! congenital hypoplastic anemia is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007755 name: Intestinal Reperfusion Injury def: "Adverse functional, metabolic, or structural changes in ischemic tissues resulting from the restoration of blood flow to the intestinal tract, including swelling; hemorrhage; necrosis; and damage from free radicals." [] synonym: "intestinal ischemia-reperfusion injury" EXACT [] synonym: "mesenteric ischemia-reperfusion injury" RELATED [] synonym: "mesenteric reperfusion injury" RELATED [] synonym: "small intestine reperfusion injury" RELATED [] is_a: DOID:9004009 ! Reperfusion Injury is_a: DOID:9004663 ! Intestinal Ischemia [Term] id: DOID:9007756 name: Partial Duplication 15q Syndrome synonym: "Chromosome 15, distal trisomy 15q" EXACT [] synonym: "Chromosome 15, Trisomy 15q2" EXACT [] synonym: "Distal Duplication 15q" EXACT [] xref: MESH:C538036 xref: RDO:0003970 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007757 name: Catatrichy alt_id: MIM:116850 synonym: "Forelock" EXACT [] xref: MESH:C535346 is_a: DOID:421 ! hair disease [Term] id: DOID:9007758 name: Bartter Syndrome Type 3, with Hypocalciuria xref: MESH:C564578 is_a: DOID:0110144 ! Bartter disease type 3 [Term] id: DOID:9007759 name: Male Sterility due to Y-Chromosome Deletions synonym: "Partial deletion of chromosome Y" EXACT [] synonym: "Partial deletion of the long arm of the Y chromosome" EXACT [] synonym: "Partial deletion of Y" EXACT [] synonym: "Partial deletion of Y chromosome short arm" EXACT [] synonym: "Y chromosome deletions" EXACT [] synonym: "Y chromosome microdeletions" EXACT [] xref: MESH:C536297 xref: RDO:0001823 is_a: DOID:12336 ! male infertility is_a: DOID:9003262 ! Sex Chromosome Disorders of Sex Development is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9007762 name: Fingerprint Body Myopathy alt_id: MIM:305550 xref: MESH:C564425 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9007763 name: Flushing def: "A transient reddening of the face that may be due to fever, certain drugs, exertion, stress, or a disease process." [MESH:D005483] synonym: "Flushings" EXACT [] xref: MESH:D005483 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9007764 name: Penoscrotal Transposition synonym: "Congenital transposition of the penis" EXACT [] synonym: "Prepenile scrotum" EXACT [] xref: MESH:C536650 is_a: DOID:732 ! urethral disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007765 name: Membranous Cranial Ossification, Delayed alt_id: MIM:155980 xref: MESH:C563592 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9007766 name: Periodontal Abscess def: "Localized circumscribed purulent area of inflammation in the periodontal tissue. It is a derivative of marginal periodontitis and commonly associated with suprabony and infrabony pockets and interradicular involvements, in contrast to periapical abscess which is attributable to pulp necrosis." [MESH:D010508] synonym: "Periodontal Abscesses" EXACT [] xref: MESH:D010508 is_a: DOID:824 ! periodontitis is_a: DOID:9000325 ! Abscess [Term] id: DOID:9007767 name: Maxillofacial Dysostosis alt_id: MIM:155000 xref: MESH:C563599 is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:9004563 ! Maxillofacial Abnormalities is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:92 ! speech disorder [Term] id: DOID:9007768 name: Colonic Diverticulosis def: "A pathological condition characterized by the presence of a number of COLONIC DIVERTICULA in the COLON. Its pathogenesis is multifactorial, including colon aging, motor dysfunction, increases in intraluminal pressure, and lack of dietary fibers." [MESH:D043963] synonym: "diverticular disease" EXACT [] xref: EFO:0009959 xref: MESH:D043963 is_a: DOID:5353 ! colonic disease [Term] id: DOID:9007769 name: Pseudarthrosis def: "A pathologic entity characterized by deossification of a weight-bearing long bone, followed by bending and pathologic fracture, with inability to form normal BONY CALLUS leading to existence of the 'false joint' that gives the condition its name. (Dorland, 27th ed)" [MESH:D011542] synonym: "Pseudarthroses" EXACT [] synonym: "Pseudoarthroses" EXACT [] synonym: "Pseudoarthrosis" EXACT [] xref: MESH:D011542 is_a: DOID:9007932 ! Ununited Fractures [Term] id: DOID:9007771 name: Gallbladder Disease 3 alt_id: MIM:609919 synonym: "GBD3" EXACT [] xref: MESH:C563686 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:9007772 name: Abdominal Obesity alt_id: RDO:0007735 def: "A condition of having excess fat in the abdomen. Abdominal obesity is typically defined as waist circumferences of 40 inches or more in men and 35 inches or more in women. Abdominal obesity raises the risk of developing disorders, such as diabetes, hypertension and METABOLIC SYNDROME X." [MESH:D056128] synonym: "Abdominal Obesities" EXACT [] synonym: "Central Obesities" EXACT [] synonym: "Central Obesity" EXACT [] synonym: "Visceral Obesities" EXACT [] synonym: "Visceral Obesity" EXACT [] xref: MESH:D056128 is_a: DOID:9970 ! obesity [Term] id: DOID:9007773 name: Tick Toxicoses def: "Toxicoses caused by toxic substances secreted by the salivary glands of ticks; include tick paralysis (neurotropic toxin), sweating sickness (dermotropic toxin), and Rhipicephalus appendiculatus toxicosis (leukotropic toxin)." [MESH:D013986] xref: MESH:D013986 is_a: DOID:9007636 ! Tick Bites [Term] id: DOID:9007774 name: Birk-Landau-Perez Syndrome synonym: "BILAPES" EXACT [] xref: MIM:617595 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-11-30T00:00:00Z [Term] id: DOID:9007775 name: Metaphyseal Undermodeling, Spondylar Dysplasia, and Overgrowth alt_id: MIM:608811 xref: MESH:C537355 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9007776 name: Hemianopsia def: "Partial or complete loss of vision in one half of the visual field(s) of one or both eyes. Subtypes include altitudinal hemianopsia, characterized by a visual defect above or below the horizontal meridian of the visual field. Homonymous hemianopsia refers to a visual defect that affects both eyes equally, and occurs either to the left or right of the midline of the visual field. Binasal hemianopsia consists of loss of vision in the nasal hemifields of both eyes. Bitemporal hemianopsia is the bilateral loss of vision in the temporal fields. Quadrantanopsia refers to loss of vision in one quarter of the visual field in one or both eyes." [MESH:D006423] synonym: "Altidudinal Hemianopia" EXACT [] synonym: "Altidudinal Hemianopias" EXACT [] synonym: "Altitudinal Hemianopsia" EXACT [] synonym: "Altitudinal Hemianopsias" EXACT [] synonym: "Binasal Hemianopia" EXACT [] synonym: "Binasal Hemianopias" EXACT [] synonym: "Binasal Hemianopsia" EXACT [] synonym: "Binasal Hemianopsias" EXACT [] synonym: "Bitemporal Hemianopia" EXACT [] synonym: "Bitemporal Hemianopias" EXACT [] synonym: "Bitemporal Hemianopsia" EXACT [] synonym: "Bitemporal Hemianopsias" EXACT [] synonym: "Hemianopia" EXACT [] synonym: "Hemianopias" EXACT [] synonym: "Hemianopsias" EXACT [] synonym: "Homonymous Hemianopia" EXACT [] synonym: "Homonymous Hemianopias" EXACT [] synonym: "Homonymous Hemianopsia" EXACT [] synonym: "Homonymous Hemianopsias" EXACT [] synonym: "Quadrantanopia" EXACT [] synonym: "Quadrantanopias" EXACT [] synonym: "Quadrantanopsia" EXACT [] synonym: "Quadrantanopsias" EXACT [] xref: MESH:D006423 is_a: DOID:1432 ! blindness is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:9007777 name: Acute Recurrent Myoglobinuria, Autosomal Recessive alt_id: MIM:268200 synonym: "acute recurrent myoglobinuria" EXACT [] synonym: "acute recurrent rhabdomyolysis" EXACT [] synonym: "familial paroxysmal paralytic myoglobinuria" EXACT [] synonym: "recurrent myoglobinuria, autosomal recessive" EXACT [] xref: MESH:C564832 is_a: DOID:0080108 ! myoglobinuria [Term] id: DOID:9007778 name: Type 2 Diabetes Mellitus 4 alt_id: MIM:608036 synonym: "NIDDM4" EXACT [] synonym: "noninsulin-dependent diabetes mellitus 4" EXACT [] synonym: "noninsulin-dependent diabetes mellitus type 4" EXACT [] synonym: "T2D4" EXACT [] xref: MESH:C564299 is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:9007779 name: Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome 2 def: "An autosomal dominant generalized connective tissue disorder characterized by features of both osteogenesis imperfecta (bone fragility, long bone fractures, blue sclerae) and Ehlers-Danlos syndrome (joint hyperextensibility, soft and hyperextensible skin, abnormal wound healing, easy bruising, vascular fragility). (OMIM)" [] synonym: "OIEDS2" EXACT [] synonym: "OIEDS syndrome 2" EXACT [] xref: MIM:619120 is_a: DOID:9008741 ! Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome created_by: mtutaj creation_date: 2020-12-11T14:44:40Z [Term] id: DOID:9007780 name: Recurrent Spontaneous Hypothermia with Hypoplasia of the Corpus Callosum xref: MESH:C559045 is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9002395 ! Hypothermia [Term] id: DOID:9007781 name: Retinoschisis, Autosomal Dominant alt_id: MIM:180270 xref: MESH:C000598640 is_a: DOID:8465 ! retinoschisis [Term] id: DOID:9007782 name: Chromosome 9, Trisomy 9p xref: MESH:C538029 xref: RDO:0003963 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007783 name: Vascular Depression def: "This involves the comorbidity of depression and the association of vascular disease." [] xref: RDO:9000348 is_a: DOID:1596 ! depressive disorder created_by: rgd creation_date: 2016-06-06T00:00:00Z [Term] id: DOID:9007784 name: Telencephalic Leukoencephalopathy xref: MESH:C536954 is_a: DOID:9002704 ! Leukoencephalopathies [Term] id: DOID:9007786 name: Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities xref: MESH:C565667 is_a: DOID:10907 ! microcephaly is_a: DOID:2340 ! craniosynostosis is_a: DOID:9004203 ! Chromosome Breakage [Term] id: DOID:9007787 name: Carcinoid Tumor def: "A usually small, slow-growing neoplasm composed of islands of rounded, oxyphilic, or spindle-shaped cells of medium size, with moderately small vesicular nuclei, and covered by intact mucosa with a yellow cut surface. The tumor can occur anywhere in the gastrointestinal tract (and in the lungs and other sites); approximately 90% arise in the appendix. It is now established that these tumors are of neuroendocrine origin and derive from a primitive stem cell. (From Stedman, 25th ed & Holland et al., Cancer Medicine, 3d ed, p1182)" [MESH:D002276] synonym: "Argentaffinoma" EXACT [] synonym: "argentaffinomas" EXACT [] synonym: "Atypical Carcinoid Tumor" NARROW [] synonym: "Carcinoid" EXACT [] synonym: "Carcinoids" EXACT [] synonym: "Carcinoid Tumors" EXACT [] synonym: "Goblet Cell Carcinoid" EXACT [] synonym: "goblet cell carcinoids" EXACT [] xref: EFO:0004243 xref: EFO:1000097 xref: MESH:D002276 is_a: DOID:169 ! neuroendocrine tumor is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:9007788 name: Cardiac-Urogenital Syndrome synonym: "CUGS" EXACT [] synonym: "MYRF-RELATED CONDITION" BROAD [] xref: EFO:0010645 xref: MIM:618280 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001611 ! Urogenital Abnormalities created_by: mtutaj creation_date: 2019-04-30T13:23:45Z [Term] id: DOID:9007789 name: Congenital Communicating Hydrocephalus 1 synonym: "congenital hydrocephalus 4" EXACT [] synonym: "HYC4" EXACT [] synonym: "HYDCC1" EXACT [] xref: MIM:618667 xref: MONDO:0032862 is_a: DOID:1573 ! communicating hydrocephalus created_by: mtutaj creation_date: 2019-12-30T09:25:15Z [Term] id: DOID:9007790 name: Winter Shortland Temple Syndrome alt_id: MIM:601707 synonym: "asymmetric craniofacial malformations with polysyndactyly and abnormal skin and gut development" EXACT [] synonym: "CRJS" EXACT [] synonym: "Curry Jones syndrome" EXACT [] xref: MESH:C536735 is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007791 name: MacKay Shek Carr Syndrome alt_id: MIM:267760 synonym: "retinal degeneration, nanophthalmos, glaucoma" EXACT [] synonym: "retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma" EXACT [] xref: MESH:C538364 is_a: DOID:1686 ! glaucoma is_a: DOID:225 ! syndrome is_a: DOID:8466 ! retinal degeneration [Term] id: DOID:9007792 name: Spastic paraplegia 30, autosomal recessive def: "A neurologic disorder characterized by onset of slowly progressive spastic paraplegia with variable age of onset, but usually in the first or second decades of life. Caused by homozygous mutation in the KIF1A gene on chromosome 2q37." [MIM:620607] synonym: "Spastic paraplegia 30B, autosomal recessive" EXACT [] synonym: "SPG30B" EXACT [] xref: MESH:C563677 xref: MIM:620607 is_a: DOID:0110781 ! hereditary spastic paraplegia 30 created_by: tutajm creation_date: 2024-07-17T17:00:05Z [Term] id: DOID:9007794 name: Lower Extremity Deformities, Congenital def: "Congenital structural abnormalities of the LOWER EXTREMITY." [MESH:D038061] synonym: "Lower Limb Deformities, Congenital" EXACT [] xref: MESH:D038061 xref: RDO:0000381 is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9007795 name: Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, and Glomerulonephritis alt_id: MIM:247800 xref: MESH:C565427 is_a: DOID:2921 ! glomerulonephritis is_a: DOID:718 ! autoimmune hemolytic anemia is_a: DOID:9005358 ! Hypergammaglobulinemia [Term] id: DOID:9007797 name: Meralgia Paresthetica synonym: "Bernhardt-Roth syndrome" EXACT [] synonym: "Lateral femoral cutaneous nerve entrapment" EXACT [] xref: MESH:C537458 xref: RDO:0003302 is_a: DOID:573 ! nerve compression syndrome [Term] id: DOID:9007800 name: Crane-Heise Syndrome alt_id: MIM:218090 synonym: "Cleft lip-palate, agenesis of clavicles and cervical vertebrae, and talipes equinovarus" EXACT [] xref: MESH:C536452 is_a: DOID:11836 ! clubfoot is_a: DOID:225 ! syndrome is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9007801 name: Diseases of the Aged def: "The range of diseases that occur mostly in the elderly." [] subset: RGD_JBrowse_slim synonym: "aging-associated diseases" EXACT [] synonym: "diseases of the elderly" EXACT [] is_a: DOID:4 ! disease created_by: rgd creation_date: 2015-06-30T00:00:00Z [Term] id: DOID:9007803 name: Endocrine Gland Neoplasms alt_id: RDO:0004757 def: "Tumors or cancer of the ENDOCRINE GLANDS." [MESH:D004701] synonym: "Carcinoma of Endocrine Gland" EXACT [] synonym: "Endocrine Cancer" EXACT [] synonym: "Endocrine Cancers" EXACT [] synonym: "Endocrine Gland Carcinoma" EXACT [] synonym: "Endocrine Gland Neoplasm" EXACT [] xref: EFO:0003769 xref: MESH:D004701 is_a: DOID:28 ! endocrine system disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9007804 name: Diastasis, Bone def: "Abnormal separation of bones, often from a LIGAMENT." [MESH:D000070631] synonym: "Bone Diastases" EXACT [] xref: MESH:D000070631 xref: RDO:0016090 is_a: DOID:9003279 ! Joint Dislocations [Term] id: DOID:9007805 name: Chromosome 1, Monosomy 1p22 p13 synonym: "Deletion 1p22 p13" EXACT [] synonym: "Monosomy 1p22 p13" EXACT [] xref: MESH:C535592 xref: RDO:0000810 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9007806 name: Drug Hypersensitivity Syndrome def: "Severe drug eruption characterized by high fever, erythematous rash and inflammation of internal organ(s)." [MESH:D063926] synonym: "DRESS Syndrome" EXACT [] synonym: "DRESS Syndromes" EXACT [] synonym: "Drug Hypersensitivity Syndromes" EXACT [] synonym: "Drug Reaction with Eosinophilia and Systemic Symptoms" EXACT [] synonym: "Drug Reaction with Eosinophilia and Systemic Symptoms Syndrome" EXACT [] xref: EFO:1002004 xref: MESH:D063926 xref: RDO:0015829 is_a: DOID:225 ! syndrome is_a: DOID:9005236 ! Drug Eruptions [Term] id: DOID:9007807 name: Epidermolysis Bullosa with Diaphragmatic Hernia alt_id: MIM:226735 xref: MESH:C565588 is_a: DOID:2730 ! epidermolysis bullosa is_a: DOID:3827 ! congenital diaphragmatic hernia [Term] id: DOID:9007808 name: Intrathoracic Gastric Volvulus alt_id: MIM:137210 xref: MESH:C564989 is_a: DOID:12642 ! hiatus hernia is_a: DOID:9005142 ! Stomach Volvulus [Term] id: DOID:9007809 name: Neoplasm Seeding def: "The local implantation of tumor cells by contamination of instruments and surgical equipment during and after surgical resection, resulting in local growth of the cells and tumor formation." [MESH:D009366] xref: MESH:D009366 xref: RDO:0006195 is_a: DOID:9000965 ! Neoplasm Metastasis [Term] id: DOID:9007810 name: Familial Osteodysplasia, Anderson Type alt_id: MIM:259250 xref: MESH:C564923 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9007811 name: Familial Cirrhosis with Deposition of Abnormal Glycogen alt_id: RDO:0003086 xref: MESH:C537275 is_a: DOID:2750 ! glycogen storage disease IV [Term] id: DOID:9007812 name: human herpesvirus 8 infection def: "This is an infectious process caused by the human herpesvirus 8. This infection is associated with Kaposi sarcoma." [NCI:C39291] synonym: "HHV-8 Infection" EXACT [] synonym: "HHV8 Infection" EXACT [] synonym: "Human Herpesvirus-8 Infection" EXACT [] synonym: "Kaposi Sarcoma-Associated Herpes Virus infection" EXACT [] xref: EFO:0002612 is_a: DOID:9002834 ! Herpesviridae Infections created_by: slaulede creation_date: 2023-02-09T16:14:11Z [Term] id: DOID:9007813 name: Platypnea Orthodeoxia Syndrome def: "Orthostatic dyspnea and fall of oxygen blood saturation when standing up which regress by assuming lying position." [] synonym: "Orthodeoxia" EXACT [] synonym: "Orthodeoxias" EXACT [] xref: MESH:D000092129 is_a: DOID:9000590 ! Dyspnea is_a: DOID:9002669 ! Hypoxia created_by: mtutaj creation_date: 2022-12-12T14:08:31Z [Term] id: DOID:9007814 name: Familial Atrial Myxoma alt_id: MIM:255960 synonym: "Intracardiac myxoma" EXACT [] xref: MESH:C538262 is_a: DOID:9003253 ! Myxoma [Term] id: DOID:9007815 name: Major Affective Disorder 9 alt_id: MIM:612372 alt_id: RDO:0015589 synonym: "MAFD9" EXACT [] xref: MESH:C567531 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:9007816 name: Central Cloudy Dystrophy of Francois alt_id: MIM:217600 def: "A very rare form of stromal corneal dystrophy (see this term) characterized by polygonal or rounded stromal opacities surrounded by clear tissue, and generally no effect on vision." [ORPHA:98972 "PMC2866169"] synonym: "CCDF" EXACT [] synonym: "Corneal Dystrophy, Central Type" EXACT [] xref: MESH:C563262 is_a: DOID:0060442 ! stromal dystrophy [Term] id: DOID:9007817 name: Macroglossia def: "The presence of an excessively large tongue, which may be congenital or may develop as a result of a tumor or edema due to obstruction of lymphatic vessels, or it may occur in association with hyperpituitarism or acromegaly. It also may be associated with malocclusion because of pressure of the tongue on the teeth. (From Jablonski, Dictionary of Dentistry, 1992)" [MESH:D008260] synonym: "Macroglossias" EXACT [] xref: MESH:D008260 xref: NCI:C84832 is_a: DOID:10944 ! tongue disease [Term] id: DOID:9007818 name: Distal Renal Tubular Acidosis 4 with Hemolytic Anemia alt_id: MIM:611590 synonym: "distal renal tubular acidosis with normal red cell morphology" NARROW [] synonym: "distal RTA, autosomal recessive, with hemolytic anemia" RELATED [] synonym: "DRTA4" EXACT [] xref: MESH:C566910 is_a: DOID:583 ! hemolytic anemia is_a: DOID:9007406 ! Distal Renal Tubular Acidosis [Term] id: DOID:9007819 name: Endocrine Bone Diseases alt_id: RDO:0004719 def: "Diseases of the bones related to hyperfunction or hypofunction of the endocrine glands." [MESH:D001849] synonym: "Endocrine Bone Disease" EXACT [] xref: MESH:D001849 is_a: DOID:0080001 ! bone disease is_a: DOID:28 ! endocrine system disease [Term] id: DOID:9007820 name: Sudden Death alt_id: RDO:0001697 def: "The abrupt cessation of all vital bodily functions, manifested by the permanent loss of total cerebral, respiratory, and cardiovascular functions." [MESH:D003645] synonym: "Sudden unexplained death" NARROW [] xref: MESH:D003645 is_a: DOID:9000543 ! Death [Term] id: DOID:9007821 name: Glucagonoma def: "An almost always malignant GLUCAGON-secreting tumor derived from the PANCREATIC ALPHA CELLS. It is characterized by a distinctive migratory ERYTHEMA; WEIGHT LOSS; STOMATITIS; GLOSSITIS; DIABETES MELLITUS; hypoaminoacidemia; and normochromic normocytic ANEMIA." [MESH:D005935] synonym: "alpha-Cell Adenoma" EXACT [] synonym: "alpha-Cell Adenomas" EXACT [] synonym: "alpha Cell Tumor" EXACT [] synonym: "alpha-Cell Tumors" EXACT [] synonym: "Glucagonomas" EXACT [] synonym: "Glucagonoma Syndrome" EXACT [] synonym: "Glucagonoma Syndromes" EXACT [] xref: MESH:D005935 xref: RDO:0002524 is_a: DOID:1798 ! pancreatic endocrine carcinoma [Term] id: DOID:9007822 name: primary pulmonary hypertension 5 alt_id: MESH:C564862 synonym: "PPH5" EXACT [] synonym: "Primary Pulmonary Hypertension, 5" EXACT [] synonym: "Primary Pulmonary Hypertension 5, Autosomal Recessive" EXACT [] synonym: "PULMONARY HYPERTENSION, PRIMARY, AUTOSOMAL RECESSIVE" EXACT [] xref: MIM:265400 is_a: DOID:14557 ! primary pulmonary hypertension [Term] id: DOID:9007823 name: Chromosome Xq26.3 Duplication Syndrome def: "A syndrome due to microduplications of chromosome Xq26.3, characterized by excessive growth, usually beginning during the first year of life in previously normal infants. (OMIM)" [] synonym: "chromosome Xq26 microduplication syndrome" EXACT [] synonym: "XLAG" EXACT [] synonym: "X-linked acrogigantism" EXACT [] xref: MIM:300942 is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: rgd creation_date: 2016-08-09T00:00:00Z [Term] id: DOID:9007826 name: Maple Syrup Urine Disease, E3 Deficient, with Lactic Acidosis xref: MESH:C565412 is_a: DOID:3650 ! lactic acidosis is_a: DOID:9269 ! maple syrup urine disease [Term] id: DOID:9007827 name: Upper Airway Obstruction def: "A blockage of the upper airway, which can be in the trachea, voice box (laryngeal), or throat (pharyngeal) areas." [] synonym: "upper respiratory tract obstruction" EXACT [] xref: RDO:9000089 is_a: DOID:9005700 ! Airway Obstruction [Term] id: DOID:9007828 name: Abnormalities, Drug-Induced def: "Congenital abnormalities caused by medicinal substances or drugs of abuse given to or taken by the mother, or to which she is inadvertently exposed during the manufacture of such substances. The concept excludes abnormalities resulting from exposure to non-medicinal chemicals in the environment." [MESH:D000014] synonym: "Drug-Induced Abnormality" EXACT [] xref: MESH:D000014 xref: RDO:0000716 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9007829 name: Mononegavirales Infections def: "Infections with viruses of the order MONONEGAVIRALES. The concept includes FILOVIRIDAE INFECTIONS; PARAMYXOVIRIDAE INFECTIONS; and RHABDOVIRIDAE INFECTIONS." [MESH:D018701] synonym: "Mononegavirales Infection" EXACT [] synonym: "Mononegavirales infectious disease" EXACT [] xref: EFO:0007376 xref: MESH:D018701 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9007830 name: Fitzsimmons-Guilbert Syndrome synonym: "Fitzsimmons syndrome" EXACT [] synonym: "Spastic paraplegia associated with brachydactyly type E" EXACT [] xref: MESH:C537938 is_a: DOID:0050581 ! brachydactyly is_a: DOID:225 ! syndrome is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9001722 ! Dysarthria [Term] id: DOID:9007832 name: Santos Syndrome alt_id: MIM:613005 synonym: "Fibular Agenesis-Hypoplasia, Oligodactylous Clubfeet, and Anonychia-Nail Hypoplasia Syndrome" EXACT [] xref: MESH:C567819 is_a: DOID:0080006 ! bone development disease is_a: DOID:1148 ! polydactyly is_a: DOID:11836 ! clubfoot is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9007833 name: Hay Wells Syndrome Recessive Type synonym: "Ankyloblepharon, ectodermal defects, and cleft lip and palate and congenital adhesions between the upper and lower jaws (alveolar synechiae)" EXACT [] xref: MESH:C535846 xref: RDO:0001181 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:9007834 name: Hyperthyroxinemia due to Decreased Peripheral Conversion of T4 alt_id: MIM:147892 synonym: "5-Prime-Deiodinase Deficiency, Generalized, Causing Euthyroid Hyperthyroxinemia" EXACT [] xref: MESH:C564122 xref: RDO:0013187 is_a: DOID:2855 ! hyperthyroxinemia [Term] id: DOID:9007835 name: Sickle Cell Retinopathy def: "This represents the effects of arteriolar and capillary occlusions in the retina as a result of sickle cell anemia." [] synonym: "Proliferative retinopathy due to sickle cell disease" RELATED [] is_a: DOID:10923 ! sickle cell anemia is_a: DOID:5679 ! retinal disease [Term] id: DOID:9007836 name: Reticuloendotheliosis, Avian def: "A group of pathologic syndromes found in avian species caused by RETICULOENDOTHELIOSIS VIRUS. The distinct syndromes include non-neoplastic runting, acute neoplastic disease, and chronic neoplastic disease. Humans and mammals appear resistant." [MESH:D055761] synonym: "Avian Reticuloendothelioses" EXACT [] xref: MESH:D055761 xref: RDO:0007722 is_a: DOID:9006114 ! Bird Diseases [Term] id: DOID:9007837 name: PARC Syndrome alt_id: MIM:600331 synonym: "Poikiloderma, Alopecia, Retrognathism, and Cleft palate" EXACT [] xref: MESH:C537174 is_a: DOID:225 ! syndrome is_a: DOID:2732 ! Rothmund-Thomson syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9001031 ! Retrognathia is_a: DOID:987 ! alopecia [Term] id: DOID:9007838 name: Myocardial Reperfusion Injury def: "Damage to the MYOCARDIUM resulting from MYOCARDIAL REPERFUSION (restoration of blood flow to ischemic areas of the HEART.) Reperfusion takes place when there is spontaneous thrombolysis, THROMBOLYTIC THERAPY, collateral flow from other coronary vascular beds, or reversal of vasospasm." [MESH:D015428] synonym: "Myocardial Ischemic Reperfusion Injury" EXACT [] synonym: "Myocardial Reperfusion Injuries" EXACT [] xref: MESH:D015428 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:9004009 ! Reperfusion Injury is_a: DOID:9007102 ! Myocardial Ischemia [Term] id: DOID:9007839 name: Selective Tooth Agenesis 3 alt_id: MIM:604625 alt_id: RDO:0015221 synonym: "Hypodontia-Oligodontia 3" EXACT [] synonym: "STHAG3" EXACT [] xref: MESH:C567036 is_a: DOID:0050591 ! tooth agenesis [Term] id: DOID:9007840 name: Chylothorax def: "The presence of chyle in the thoracic cavity. (Dorland, 27th ed)" [MESH:D002916] xref: EFO:1001780 xref: MESH:D002916 is_a: DOID:1532 ! pleural disease [Term] id: DOID:9007842 name: Sepsis-Associated Encephalopathy def: "Acute neurological dysfunction during severe SEPSIS in the absence of direct brain infection characterized by systemic inflammation and BLOOD BRAIN BARRIER perturbation." [MESH:D065166] synonym: "Sepsis Associated Delirium" EXACT [] synonym: "Sepsis Associated Deliriums" EXACT [] synonym: "Sepsis Associated Encephalopathies" EXACT [] xref: MESH:D065166 is_a: DOID:936 ! brain disease [Term] id: DOID:9007843 name: Familial Streblodactyly synonym: "Crooked little finger, familial" EXACT [] synonym: "Minor streblomicrodactyly, familial" EXACT [] xref: MESH:C536852 xref: RDO:0002563 is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital [Term] id: DOID:9007844 name: Branchiootic Syndrome 3 alt_id: MIM:608389 synonym: "BOS3" EXACT [] synonym: "BO Syndrome 3" EXACT [] xref: MESH:C564248 is_a: DOID:0060232 ! branchiootic syndrome [Term] id: DOID:9007845 name: Encopresis def: "Incontinence of feces not due to organic defect or illness." [MESH:D004688] xref: MESH:D004688 is_a: DOID:9000681 ! Elimination Disorders is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9007847 name: Infantile Diarrhea def: "DIARRHEA occurring in infants from newborn to 24-months old." [MESH:D003968] synonym: "infantile diarrheas" EXACT [] xref: EFO:1001306 xref: MESH:D003968 xref: MONDO:0043555 is_a: DOID:13250 ! diarrhea [Term] id: DOID:9007848 name: Sarcoplasmic Body Myopathy def: "An autosomal dominant disorder characterized by adult-onset muscle weakness affecting the proximal and distal muscles. Caused by heterozygous mutation in the MB gene on chromosome 22q11." [MIM:620286] synonym: "myoglobinopathy" EXACT [] synonym: "MYOSB" EXACT [] xref: MIM:620286 is_a: DOID:423 ! myopathy created_by: mtutaj creation_date: 2023-03-29T09:41:57Z [Term] id: DOID:9007849 name: Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet alt_id: MIM:275595 xref: MESH:C564759 is_a: DOID:2340 ! craniosynostosis is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9005616 ! Micrognathism is_a: DOID:9008514 ! Psychomotor Disorders [Term] id: DOID:9007850 name: Verloove-Vanhorick Brubakk Syndrome alt_id: MIM:215850 synonym: "Cleft Limb Heart Malformation Syndrome" EXACT [] synonym: "CLH Syndrome" EXACT [] xref: MESH:C536541 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9000888 ! Pregnancy in Diabetics is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007851 name: Familial Developmental Dysphasia synonym: "Billard-Toutain-Maheut syndrome" EXACT [] synonym: "FOXP2-associated dysphasia" EXACT [] xref: GARD:1823 xref: MESH:C563997 xref: MIM:600117 xref: MONDO:0010821 xref: ORDO:1799 is_a: DOID:0060046 ! aphasia [Term] id: DOID:9007852 name: Generalized Epilepsy with Febrile Seizures Plus, Type 12 def: "A disease characterized by variable types of seizures, most often febrile seizures, sometimes combined with additional nonfebrile seizures, including focal or generalized seizures. Caused by heterozygous mutation in the SLC32A1 gene on chromosome 20q11." [MIM:620755] synonym: "GEFS+12" EXACT [] synonym: "GEFS+, type 12" EXACT [] synonym: "GEFSP12" EXACT [] xref: MIM:620755 is_a: DOID:0060170 ! generalized epilepsy with febrile seizures plus created_by: tutajm creation_date: 2024-03-18T12:43:57Z [Term] id: DOID:9007853 name: Worster-Drought Syndrome alt_id: MIM:185480 synonym: "Congenital suprabulbar paresis" EXACT [] xref: MESH:C536747 is_a: DOID:0111563 ! Sturge-Weber syndrome is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:681 ! progressive bulbar palsy is_a: DOID:9001722 ! Dysarthria [Term] id: DOID:9007854 name: Fibrous Dysplasia, Monostotic def: "FIBROUS DYSPLASIA OF BONE involving only one bone." [MESH:D005358] synonym: "Monostotic Fibrous Dysplasias" EXACT [] xref: MESH:D005358 xref: RDO:0005605 is_a: DOID:9008267 ! Fibrous Dysplasia of Bone [Term] id: DOID:9007855 name: Oslam syndrome alt_id: MIM:165660 synonym: "osteosarcoma, limb anomalies, and erythroid macrocytosis with megaloblastic marrow" EXACT [] synonym: "osteosarcoma, limb anomalies, and macrocytosis" EXACT [] xref: MESH:C537138 is_a: DOID:225 ! syndrome is_a: DOID:3347 ! osteosarcoma is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004389 ! Bone Neoplasms is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007856 name: Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities alt_id: MIM:602471 synonym: "Sams" EXACT [] synonym: "Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities" EXACT [] xref: MESH:C566544 xref: RDO:0014872 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9007857 name: Maleylacetoacetate Isomerase Deficiency def: "A disease characterized by mild elevations in succinylacetone in blood and urine, usually identified by newborn screening. (OMIM)" [] synonym: "BENIGN HYPERSUCCINYLACETONEMIA" EXACT [] synonym: "BHSA" EXACT [] synonym: "MAAID" EXACT [] synonym: "MAAI DEFICIENCY" EXACT [] synonym: "MHSA" EXACT [] synonym: "MILD HYPERSUCCINYLACETONEMIA" EXACT [] xref: MIM:617596 is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:9007858 name: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HACKMANN-DI DONATO TYPE def: "An X-linked recessive phenotype characterized by global developmental delay with hypotonia, delayed speech, and mildly delayed walking associated with somatic marfanoid features, including tall stature, long fingers, and mildly dysmorphic facies." [MIM:301039] synonym: "Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder" EXACT [] synonym: "MENTAL RETARDATION, X-LINKED, WITH MARFANOID HABITUS, 2" EXACT [] synonym: "MRXSHD" EXACT [] xref: MIM:301039 is_a: DOID:0060309 ! syndromic X-linked intellectual disability is_a: DOID:14323 ! Marfan syndrome created_by: slaulede creation_date: 2020-07-21T13:45:56Z [Term] id: DOID:9007859 name: Mastocytic Enterocolitis xref: GARD:10176 xref: MESH:C536032 is_a: DOID:350 ! mastocytosis [Term] id: DOID:9007860 name: Spindle Cell Nevus def: "A form of pigmented nevus showing intense melanocytic activity around the dermo-epidermal junction. Large numbers of spindle-shaped melanocytes proliferate downward toward the dermis and usually a large amount of pigment is present. It was first described in 1976 and the bulk of patients reported have been young females with the lesions presenting on the thighs. (From Rook et al., Textbook of Dermatology, 4th ed, 1992, p185)" [MESH:D018331] synonym: "Spindle Cell Nevi" EXACT [] xref: EFO:1001105 xref: MESH:D018331 is_a: DOID:9005120 ! Pigmented Nevus [Term] id: DOID:9007861 name: Dental Deposits def: "Accumulations of microflora that lead to pathological plaque and calculus which cause PERIODONTAL DISEASES. It can be considered a type of BIOFILMS. It is subtly distinguished from the protective DENTAL PELLICLE." [MESH:D003741] synonym: "Dental Deposit" EXACT [] synonym: "Materia Alba" EXACT [] xref: MESH:D003741 is_a: DOID:1091 ! tooth disease [Term] id: DOID:9007863 name: Duodenojejunal Atresia with Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery alt_id: MIM:606894 synonym: "Duodenojejunal Atresia, Volvulus, Absent Dorsal Mesentery and Absent Superior Mesenteric Artery" EXACT [] xref: MESH:C535722 is_a: DOID:10486 ! intestinal atresia is_a: DOID:8437 ! intestinal obstruction [Term] id: DOID:9007864 name: Ophthalmoplegia, Painful synonym: "Nonspecific inflammation of the cavernous sinus or superior orbital fissure" EXACT [] xref: MESH:C531833 xref: RDO:0000225 is_a: DOID:1278 ! Tolosa-Hunt syndrome [Term] id: DOID:9007865 name: Recurrent Trigger Thumb alt_id: RDO:0004578 synonym: "Bilateral trigger thumb" EXACT [] synonym: "Congenital trigger thumb" EXACT [] xref: MESH:C538662 is_a: DOID:9000583 ! Trigger Finger Disorder [Term] id: DOID:9007867 name: Aicardi-Goutieres Syndrome 5 alt_id: MIM:612952 synonym: "AGS5" EXACT [] synonym: "Aicardi-Goutieres syndrome, autosomal dominant" EXACT [] synonym: "SAMHD1-RELATED CONDITION" BROAD [] xref: MESH:C535608 xref: NCI:C168564 is_a: DOID:0050629 ! Aicardi-Goutieres syndrome [Term] id: DOID:9007868 name: Multiple mitochondrial dysfunctions syndrome 7 def: "An autosomal recessive disorder characterized by a clinical spectrum ranging from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy, and variable movement problems. Caused by homozygous or compound heterozygous mutation in the glycine cleavage system H protein gene (GCSH) on chromosome 16q23." [MIM:620423] synonym: "MMDS7" EXACT [] xref: MIM:620423 is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome created_by: mtutaj creation_date: 2023-07-07T12:18:29Z [Term] id: DOID:9007869 name: Boylan Dew Greco Syndrome synonym: "Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita" EXACT [] xref: MESH:C537083 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome is_a: DOID:3213 ! demyelinating disease [Term] id: DOID:9007870 name: Respiratory System Abnormalities def: "Congenital structural abnormalities of the respiratory system." [MESH:D015619] synonym: "Respiratory System Abnormality" EXACT [] xref: MESH:D015619 xref: RDO:0003779 is_a: DOID:1579 ! respiratory system disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9007871 name: Malignant Pleural Effusions alt_id: RDO:0006938 def: "Presence of fluid in the PLEURAL CAVITY as a complication of malignant disease. Malignant pleural effusions often contain actual malignant cells." [MESH:D016066] synonym: "malignant pleural effusion" EXACT [] xref: MESH:D016066 is_a: DOID:9000315 ! Pleural Neoplasms is_a: DOID:9005883 ! Pleural Effusion [Term] id: DOID:9007872 name: Reactive Attachment Disorder def: "Markedly disturbed and developmentally inappropriate social relatedness that begins before age 5 and is associated with grossly pathological child care. The child may persistently fail to initiate and respond to social interactions in a developmentally appropriate way (inhibited type) or there may be a pattern of diffuse attachments with nondiscriminate sociability (disinhibited type). (From DSM-V)" [MESH:D019962] synonym: "Reactive Attachment Disorders" EXACT [] xref: MESH:D019962 xref: RDO:0007301 is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:9007873 name: Primary Intraosseous Vascular Malformation alt_id: MIM:606893 synonym: "intraosseous hemangioma" EXACT [] synonym: "Vascular Malformation Osseous" EXACT [] synonym: "VMOS" EXACT [] synonym: "VMPI" EXACT [] xref: MESH:C564648 is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:9007874 name: Liver Failure def: "Severe inability of the LIVER to perform its normal metabolic functions, as evidenced by severe JAUNDICE and abnormal serum levels of AMMONIA; BILIRUBIN; ALKALINE PHOSPHATASE; ASPARTATE AMINOTRANSFERASE; LACTATE DEHYDROGENASES; and albumin/globulin ratio. (Blakiston's Gould Medical Dictionary, 4th ed)" [MESH:D017093] synonym: "Hepatic Failure" EXACT [] xref: MESH:D017093 is_a: DOID:9004250 ! Hepatic Insufficiency [Term] id: DOID:9007875 name: Kabuki Syndrome 2 synonym: "KABUK2" EXACT [] synonym: "KABUKI SYNDROME - KDM6A" EXACT [] synonym: "KDM6A-RELATED CONDITION" EXACT [] xref: MIM:300867 is_a: DOID:0060473 ! Kabuki syndrome [Term] id: DOID:9007877 name: Fetal Hypoxia def: "Deficient oxygenation of FETAL BLOOD." [MESH:D005311] synonym: "Fetal Anoxia" EXACT [] xref: EFO:1001793 xref: MESH:D005311 is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9002669 ! Hypoxia [Term] id: DOID:9007878 name: Crossed Polydactyly, Type I xref: MESH:C566783 xref: RDO:0015035 is_a: DOID:1148 ! polydactyly [Term] id: DOID:9007879 name: Thrombocythemia 2 synonym: "THCYT2" EXACT [] synonym: "THROMBOCYTHEMIA 2, SOMATIC" NARROW [] xref: MIM:601977 is_a: DOID:2228 ! thrombocytosis [Term] id: DOID:9007881 name: Hemoperitoneum def: "Accumulations of blood in the PERITONEAL CAVITY due to internal HEMORRHAGE." [MESH:D006465] synonym: "Hemoperitoneums" EXACT [] xref: MESH:D006465 is_a: DOID:9006175 ! Peritoneal Diseases is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9007882 name: Benign Neonatal Epilepsy, Autosomal Recessive alt_id: MIM:269720 alt_id: RDO:0013654 synonym: "benign familial neonatal convulsions, autosomal recessive" EXACT [] synonym: "benign familial neonatal seizures, autosomal recessive" EXACT [] xref: MESH:C564823 is_a: DOID:14264 ! benign neonatal seizures [Term] id: DOID:9007883 name: Depressive Disorder, Treatment-Resistant def: "Failure to respond to two or more trials of antidepressant monotherapy or failure to respond to four or more trials of different antidepressant therapies. (Campbell's Psychiatric Dictionary, 9th ed.)" [MESH:D061218] synonym: "Refractory Depression" EXACT [] synonym: "Refractory Depressions" EXACT [] synonym: "Therapy Resistant Depression" EXACT [] synonym: "Therapy-Resistant Depressions" EXACT [] synonym: "Treatment Resistant Depression" EXACT [] synonym: "Treatment Resistant Depressions" EXACT [] synonym: "Treatment-Resistant Depressive Disorders" EXACT [] xref: EFO:0009854 xref: MESH:D061218 xref: RDO:0010055 is_a: DOID:1596 ! depressive disorder [Term] id: DOID:9007884 name: Lactic Acidosis, Chronic Adult Form alt_id: MIM:150170 xref: MESH:C563640 is_a: DOID:3650 ! lactic acidosis [Term] id: DOID:9007885 name: Pachyonychia Congenita 4 synonym: "PC4" EXACT [] xref: MIM:615728 is_a: DOID:0050449 ! pachyonychia congenita created_by: mtutaj creation_date: 2019-03-26T12:18:57Z [Term] id: DOID:9007886 name: Chromosome 20, Trisomy synonym: "Chromosome 20 duplication" EXACT [] synonym: "Trisomy 20" EXACT [] synonym: "Trisomy 20 mosaicism" EXACT [] xref: MESH:C535372 xref: NCI:C36397 xref: RDO:0000454 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007887 name: Non-Lissencephalic Cortical Dysplasia xref: MESH:C536243 is_a: DOID:0090131 ! complex cortical dysplasia with other brain malformations is_a: DOID:480 ! movement disease is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:92 ! speech disorder is_a: DOID:936 ! brain disease [Term] id: DOID:9007888 name: primary pulmonary hypertension 3 synonym: "PPH3" EXACT [] synonym: "Primary Pulmonary Hypertension, 3" EXACT [] xref: MIM:615343 is_a: DOID:14557 ! primary pulmonary hypertension [Term] id: DOID:9007889 name: Nephrogenic Fibrosing Dermopathy def: "A chronic, acquired, idiopathic, progressive eruption of the skin that occurs in the context of RENAL FAILURE. It is sometimes accompanied by systemic fibrosis. The pathogenesis seems to be multifactorial, with postulated involvement of circulating fibrocytes. There is a strong association between this disorder and the use of gadolinium-based contrast agents." [MESH:D054989] synonym: "Nephrogenic Fibrosing Dermopathies" EXACT [] synonym: "Nephrogenic Systemic Fibroses" EXACT [] synonym: "Nephrogenic Systemic Fibrosis" EXACT [] xref: EFO:1001814 xref: MESH:D054989 is_a: DOID:37 ! skin disease is_a: DOID:9000784 ! Fibrosis [Term] id: DOID:9007890 name: X-Linked Ichthyosis without Steroid Sulfatase Deficiency alt_id: MIM:300001 xref: MESH:C564729 is_a: DOID:1700 ! X-linked ichthyosis [Term] id: DOID:9007892 name: Tics def: "Habitual, repeated, rapid contraction of certain muscles, resulting in stereotyped individualized actions that can be voluntarily suppressed for only brief periods. They often involve the face, vocal cords, neck, and less often the extremities. Examples include repetitive throat clearing, vocalizations, sniffing, pursing the lips, and excessive blinking. Tics tend to be aggravated by emotional stress. When frequent they may interfere with speech and INTERPERSONAL RELATIONS. Conditions which feature frequent and prominent tics as a primary manifestation of disease are referred to as TIC DISORDERS. (From Adams et al., Principles of Neurology, 6th ed, pp109-10)" [MESH:D020323] synonym: "Gestural Tic" EXACT [] synonym: "Gestural Tics" EXACT [] synonym: "Habit Chorea" EXACT [] synonym: "Habit Choreas" EXACT [] synonym: "Habit Spasm" EXACT [] synonym: "Habit Spasms" EXACT [] synonym: "Habituation Spasm" EXACT [] synonym: "Habituation Spasms" EXACT [] synonym: "Motor Tic" EXACT [] synonym: "Motor Tics" EXACT [] synonym: "Tic" EXACT [] synonym: "Transient Tic" EXACT [] synonym: "Transient Tics" EXACT [] synonym: "Vocal Tic" EXACT [] synonym: "Vocal Tics" EXACT [] xref: MESH:D020323 is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9007893 name: Glycosylphosphatidylinositol Biosynthesis Defect 21 synonym: "GPIBD21" EXACT [] synonym: "NEDBSS" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS" EXACT [] xref: EFO:0010564 xref: MIM:618590 is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency created_by: mtutaj creation_date: 2019-09-18T08:50:45Z [Term] id: DOID:9007894 name: Autosomal Recessive Nonsyndromic Deafness 122 def: "A disease characterized by postnatal onset of nonsyndromic sensorineural hearing loss leading to deafness by the second or third decade caused by compound heterozygous mutation in the TMTC4 gene on chromosome 13q32." [MIM:620714] synonym: "DEAFNESS, AUTOSOMAL RECESSIVE 122" EXACT [] synonym: "DFNB122" EXACT [] xref: MIM:620714 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: tutajm creation_date: 2024-02-19T14:41:13Z [Term] id: DOID:9007895 name: Arnold Stickler Bourne Syndrome synonym: "Corneal crystals myopathy and nephropathy" EXACT [] xref: MESH:C537431 is_a: DOID:10124 ! corneal disease is_a: DOID:225 ! syndrome is_a: DOID:557 ! kidney disease is_a: DOID:767 ! muscular atrophy [Term] id: DOID:9007896 name: Sclerosis def: "A pathological process consisting of hardening or fibrosis of an anatomical structure, often a vessel or a nerve." [MESH:D012598] synonym: "Scleroses" EXACT [] xref: MESH:D012598 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9007897 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND BRAIN ATROPHY def: "An autosomal recessive disorder characterized by severe global developmental delay, developmental regression with loss of milestones, severe microcephaly, and brain abnormalities, primarily cerebral atrophy and hypoplasia of the corpus callosum. Affected individuals develop seizures in the first year of life; eventually they are unable to sit, feed, or communicate, and may be unresponsive to stimuli." [MIM:619076] synonym: "NEDMISB" EXACT [] xref: MIM:619076 is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9004462 ! Atrophy created_by: slaulede creation_date: 2021-01-18T14:44:27Z [Term] id: DOID:9007898 name: FG Syndrome 1 def: "This disease is an X-linked recessive mental retardation syndrome characterized by dysmorphic features, including relative macrocephaly, hypertelorism, downslanted palpebral fissures, prominent forehead with frontal hair upsweep, and broad thumbs and halluces. Affected individuals tend to be hyperactive and talkative." [MIM:305450] synonym: "FGS1" EXACT [] synonym: "KELLER SYNDROME" EXACT [] synonym: "MED12-RELATED INTELLECTUAL DISABILITY SYNDROME" BROAD [] synonym: "MENTAL RETARDATION, LARGE HEAD, IMPERFORATE ANUS, CONGENITAL HYPOTONIA, AND PARTIAL AGENESIS OF CORPUS CALLOSUM" EXACT [] synonym: "OKS" EXACT [] synonym: "OPITZ-KAVEGGIA SYNDROME" EXACT [] xref: MIM:305450 xref: ORDO:93932 is_a: DOID:14711 ! FG syndrome created_by: mtutaj creation_date: 2020-02-17T13:22:58Z [Term] id: DOID:9007899 name: Animal Viral Hepatitis def: "INFLAMMATION of the LIVER in animals due to viral infection." [MESH:D006524] xref: EFO:0007540 xref: MESH:D006524 is_a: DOID:1884 ! viral hepatitis is_a: DOID:9000722 ! Animal Hepatitis [Term] id: DOID:9007900 name: Multisystemic Smooth Muscle Dysfunction Syndrome synonym: "congenital mydriasis with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy" EXACT [] synonym: "MSMDS" EXACT [] synonym: "SMDYS" EXACT [] synonym: "smooth muscle dysfunction syndrome" EXACT [] xref: MIM:613834 is_a: DOID:13832 ! patent ductus arteriosus is_a: DOID:14004 ! thoracic aortic aneurysm is_a: DOID:225 ! syndrome is_a: DOID:9002120 ! Congenital Mydriasis [Term] id: DOID:9007901 name: Grover's Disease synonym: "Grover disease" EXACT [] synonym: "Transient Acantholytic Dermatosis" EXACT [] xref: MESH:C537306 xref: RDO:0003125 is_a: DOID:1697 ! ichthyosis is_a: DOID:9008056 ! Acantholysis [Term] id: DOID:9007902 name: Progressive Encephalopathy, with or without Lipodystrophy def: "Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade." [] synonym: "PELD" EXACT [] xref: MIM:615924 xref: RDO:9000327 is_a: DOID:811 ! lipodystrophy is_a: DOID:936 ! brain disease [Term] id: DOID:9007903 name: Junctional Epidermolysis Bullosa 2C, Laryngoonychocutaneous alt_id: MIM:245660 synonym: "JEB2C" EXACT [] synonym: "Laryngeal and ocular granulation in indian children" EXACT [] synonym: "Laryngoonychocutaneous Syndrome" EXACT [] synonym: "laryngo-onycho-cutaneous syndrome" EXACT [] synonym: "LOCS" EXACT [] synonym: "Logic syndrome" EXACT [] xref: MESH:C537032 is_a: DOID:225 ! syndrome is_a: DOID:3209 ! junctional epidermolysis bullosa is_a: DOID:4251 ! conjunctival disease is_a: DOID:786 ! laryngeal disease [Term] id: DOID:9007904 name: Desmoplastic Ameloblastoma def: "This is an ameloblastoma with prominent desmoplastic stroma that causes compression of the neoplastic epithelial islands." [NCI:C39758] xref: EFO:1000215 is_a: DOID:0050894 ! ameloblastoma created_by: slaulede creation_date: 2023-02-06T17:59:31Z [Term] id: DOID:9007905 name: Trifascicular Block def: "Abnormal conduction in all three divisions of the intraventricular conducting tissue." [] synonym: "Trifascicular block on electrocardiogram" RELATED [] xref: RDO:9000518 is_a: DOID:9003912 ! Bundle-Branch Block [Term] id: DOID:9007907 name: Congenital Myopathy with Neuropathy and Deafness alt_id: RDO:9001749 synonym: "CMND" EXACT [] synonym: "congenital myopathy, neuropathy, and deafness" EXACT [] xref: MIM:617519 is_a: DOID:0080000 ! muscular disease is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9008681 ! Deafness created_by: rgd creation_date: 2017-07-12T00:00:00Z [Term] id: DOID:9007908 name: Aortic Coarctation alt_id: MIM:120000 def: "A birth defect characterized by the narrowing of the AORTA that can be of varying degree and at any point from the transverse arch to the iliac bifurcation. Aortic coarctation causes arterial HYPERTENSION before the point of narrowing and arterial HYPOTENSION beyond the narrowed portion." [MESH:D001017] synonym: "Aorta Coarctation" EXACT [] synonym: "Aorta Coarctations" EXACT [] synonym: "Aorta Dominant Coarctation" EXACT [] synonym: "Aorta Dominant Coarctations" EXACT [] synonym: "Aortic Coarctations" EXACT [] synonym: "Coarctation of Aorta" EXACT [] synonym: "Coarctation of Aorta Dominant" EXACT [] synonym: "Coarctation of the Aorta" EXACT [] synonym: "MIDAORTIC SYNDROME" RELATED [] xref: EFO:1001267 xref: MESH:D001017 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9007909 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES def: "This disease is an autosomal recessive disorder characterized by impaired intellectual development with striking radiologic abnormalities of the lateral ventricles." [MIM:620746] synonym: "NEDHBA" EXACT [] synonym: "SLC4A10-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:620746 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006534 ! Nervous System Malformations created_by: slaulederkind creation_date: 2024-05-28T11:59:43Z [Term] id: DOID:9007910 name: Autoinflammation with Arthritis and Dyskeratosis def: "A disease characterized by recurrent fever, widespread skin dyskeratosis, arthritis, elevated biologic markers of inflammation, and mild autoimmunity with a high transitional B-cell level. (OMIM)" [] synonym: "AIADK" EXACT [] xref: MIM:617388 is_a: DOID:848 ! arthritis is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9005372 ! Inflammation is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9007911 name: Myoglobinuria, Autosomal Dominant alt_id: MIM:160010 xref: MESH:C563546 is_a: DOID:0080108 ! myoglobinuria [Term] id: DOID:9007912 name: Familial Granulomatous Arteritis with Juvenile Polyarthritis alt_id: MIM:108050 xref: MESH:C566253 is_a: DOID:525 ! central nervous system vasculitis is_a: DOID:676 ! juvenile rheumatoid arthritis [Term] id: DOID:9007913 name: Collagen VI-related Myopathy is_a: DOID:0050557 ! congenital muscular dystrophy created_by: mtutaj creation_date: 2022-05-25T14:18:01Z [Term] id: DOID:9007914 name: Acrodysplasia with Ossification Abnormalities, Short Stature, and Fibular Hypoplasia alt_id: MIM:603740 xref: MESH:C538181 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9007915 name: Fournier Gangrene def: "An acute necrotic infection of the SCROTUM; PENIS; or PERINEUM. It is characterized by scrotum pain and redness with rapid progression to gangrene and sloughing of tissue. Fournier gangrene is usually secondary to perirectal or periurethral infections associated with local trauma, operative procedures, or urinary tract disease." [MESH:D018934] synonym: "Fournier's Disease" EXACT [] synonym: "Fournier's Gangrene" EXACT [] synonym: "Fournier Disease" EXACT [] synonym: "Fourniers Disease" EXACT [] synonym: "Fourniers Gangrene" EXACT [] xref: MESH:D018934 xref: RDO:0007247 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:9007916 name: Age Related Macular Degeneration 3 alt_id: MIM:608895 synonym: "ARMD3" EXACT [] synonym: "hereditary neuropathy with or without age-related macular degeneration" RELATED [] synonym: "HNARMD" EXACT [] xref: MESH:C563838 is_a: DOID:10871 ! age related macular degeneration [Term] id: DOID:9007917 name: Supernumerary Tooth def: "An extra tooth, erupted or unerupted, resembling or unlike the other teeth in the group to which it belongs. Its presence may cause malposition of adjacent teeth or prevent their eruption." [MESH:D014096] synonym: "Fourth Molar" EXACT [] synonym: "Fourth Molars" EXACT [] synonym: "Supernumerary Teeth" EXACT [] xref: MESH:D014096 xref: MIM:187100 xref: MONDO:0008533 is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9007918 name: Hagemoser Weinstein Bresnick Syndrome alt_id: RDO:0003498 synonym: "Optic atrophy, deafness and peripheral neuropathy" EXACT [] synonym: "Optic atrophy, hearing loss and peripheral neuropathy" EXACT [] xref: MESH:C537626 is_a: DOID:225 ! syndrome is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:9005850 ! Hereditary Optic Atrophies is_a: DOID:9006380 ! Bilateral Hearing Loss [Term] id: DOID:9007920 name: Thoracic Neoplasms def: "New abnormal growth of tissue in the THORAX." [MESH:D013899] synonym: "thoracic neoplasm" EXACT [] synonym: "thoracic tumor" EXACT [] synonym: "thorax neoplasm" EXACT [] synonym: "tumor of thorax" EXACT [] xref: MESH:D013899 xref: MONDO:0021350 is_a: DOID:0060118 ! thoracic disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9007921 name: Spina Bifida Cystica def: "A form of spinal dysraphism associated with a protruding cyst made up of either meninges (i.e., a MENINGOCELE) or meninges in combination with spinal cord tissue (i.e., a MENINGOMYELOCELE). These lesions are frequently associated with spinal cord dysfunction, HYDROCEPHALUS, and SYRINGOMYELIA. (From Davis et al., Textbook of Neuropathology, 2nd ed, pp224-5)" [MESH:D016137] synonym: "Open Spina Bifida" EXACT [] synonym: "Spina Bifida Aperta" EXACT [] synonym: "Spina Bifida Manifesta" EXACT [] xref: MESH:D016137 xref: RDO:0002756 is_a: DOID:0080016 ! spina bifida [Term] id: DOID:9007922 name: Chromosome 5, Monosomy 5q35 synonym: "Deletion 5q35" EXACT [] synonym: "Monosomy 5q35" EXACT [] xref: MESH:C537647 xref: RDO:0003523 is_a: DOID:12580 ! Cri-du-Chat syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9007923 name: Back Pain def: "Acute or chronic pain located in the posterior regions of the THORAX; LUMBOSACRAL REGION; or the adjacent regions." [MESH:D001416] synonym: "Back Ache" EXACT [] synonym: "Backache" EXACT [] synonym: "Back Aches" EXACT [] synonym: "Backaches" EXACT [] synonym: "Back Pains" EXACT [] synonym: "Back Pain without Radiation" EXACT [] synonym: "Back Pain with Radiation" EXACT [] synonym: "Vertebrogenic Pain Syndrome" EXACT [] synonym: "Vertebrogenic Pain Syndromes" EXACT [] xref: MESH:D001416 xref: RDO:0004964 is_a: DOID:9000641 ! Pain [Term] id: DOID:9007924 name: Dyskinesia with Orofacial Involvement synonym: "familial dyskinesia with facial myokymia" EXACT [] synonym: "FDFM" EXACT [] xref: MESH:C564676 xref: MIM:PS606703 xref: NCI:C202047 is_a: DOID:9003935 ! Myokymia is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9007925 name: Sudden Cardiac Death def: "Unexpected rapid natural death due to cardiovascular collapse within one hour of initial symptoms. It is usually caused by the worsening of existing heart diseases. The sudden onset of symptoms, such as CHEST PAIN and CARDIAC ARRHYTHMIAS, particularly VENTRICULAR TACHYCARDIA, can lead to the loss of consciousness and cardiac arrest followed by biological death. (from Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine, 7th ed., 2005)" [MESH:D016757] synonym: "FAMILY HISTORY OF SUDDEN CARDIAC DEATH" RELATED [] synonym: "sudden cardiac arrest" EXACT [] synonym: "sudden cardiac arrests" EXACT [] xref: EFO:0004278 xref: MESH:D016757 is_a: DOID:0060319 ! cardiac arrest is_a: DOID:9007820 ! Sudden Death [Term] id: DOID:9007926 name: Prostate Cancer, Hereditary, X-Linked 3 synonym: "HPCX3" EXACT [] xref: MIM:301120 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9005539 ! Familial Prostate Cancer created_by: tutajm creation_date: 2024-07-17T18:36:50Z [Term] id: DOID:9007927 name: Polydactyly Myopia Syndrome alt_id: MIM:174310 synonym: "Czeizel Brooser syndrome" EXACT [] synonym: "Postaxial polydactyly-progressive myopia syndrome" EXACT [] synonym: "Postaxial Polydactyly with progressive myopia" EXACT [] xref: MESH:C536331 is_a: DOID:1148 ! polydactyly is_a: DOID:11830 ! myopia is_a: DOID:225 ! syndrome [Term] id: DOID:9007928 name: Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature alt_id: MIM:126320 xref: MESH:C565092 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:9007929 name: Gastric Diffuse Large B-Cell Lymphoma def: "This is an extranodal diffuse large B-cell lymphoma that arises from the stomach with the bulk of the mass located in the stomach." [NCI:C5253] synonym: "primary diffuse large B-cell gastric lymphoma" EXACT [] synonym: "primary diffuse large B-cell lymphoma of the stomach" EXACT [] xref: EFO:1000270 is_a: DOID:0050745 ! diffuse large B-cell lymphoma created_by: slaulede creation_date: 2023-01-09T17:03:18Z [Term] id: DOID:9007931 name: Tuberculoma def: "A tumor-like mass resulting from the enlargement of a tuberculous lesion." [MESH:D014375] synonym: "Tuberculomas" EXACT [] xref: MESH:D014375 is_a: DOID:399 ! tuberculosis [Term] id: DOID:9007932 name: Ununited Fractures def: "A fracture in which union fails to occur, the ends of the bone becoming rounded and eburnated, and a false joint occurs. (Stedman, 25th ed)" [MESH:D005599] synonym: "Ununited Fracture" EXACT [] xref: EFO:0009707 xref: MESH:D005599 is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9007933 name: Richards-Rundle Syndrome alt_id: MIM:245100 synonym: "Ataxia-deafness-retardation syndrome with ketoaciduria" EXACT [] synonym: "Familial ataxia-hypogonadism syndrome" EXACT [] synonym: "Ketoaciduria-mental deficiency syndrome" EXACT [] synonym: "Ketoaciduria With Mental Deficiency And Other Features" EXACT [] xref: MESH:C535674 is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9004866 ! Ataxia is_a: DOID:9008681 ! Deafness is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9007934 name: Ectrodactyly-Cleft Palate Syndrome alt_id: MIM:129830 synonym: "ECP syndrome" EXACT [] xref: MESH:C565064 is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9007935 name: Gingival Pocket def: "An abnormal extension of a gingival sulcus not accompanied by the apical migration of the epithelial attachment." [MESH:D005888] synonym: "Gingival Pockets" EXACT [] xref: MESH:D005888 is_a: DOID:3087 ! gingivitis [Term] id: DOID:9007936 name: Facial Dysmorphism, Immunodeficiency, Livedo, and Short Stature synonym: "FILS" EXACT [] xref: MIM:615139 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001467 ! Livedo Reticularis is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007472 ! Skin Manifestations is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007937 name: NEURODEVELOPMENTAL DISORDER WITH NEUROMUSCULAR AND SKELETAL ABNORMALITIES def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features." [MIM:619833] synonym: "NEDNMS" EXACT [] synonym: "NRCAM-related condition" BROAD [] synonym: "NRCAM-related disorder" BROAD [] xref: MIM:619833 xref: MONDO:0859236 is_a: DOID:440 ! neuromuscular disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005004 ! Musculoskeletal Abnormalities created_by: slaulede creation_date: 2022-06-30T11:29:13Z [Term] id: DOID:9007938 name: Myxomatous Mitral Valve Prolapse 3 alt_id: MIM:610840 synonym: "MITRAL VALVE PROLAPSE 3" EXACT [] synonym: "MMVP3" EXACT [] synonym: "MVP3" EXACT [] xref: MESH:C563655 is_a: DOID:988 ! mitral valve prolapse [Term] id: DOID:9007939 name: Multiple Self-healing Palmoplantar Carcinoma synonym: "CIDED" EXACT [] synonym: "corneal intraepithelial dyskeratosis and ectodermal dysplasia" EXACT [] synonym: "MSPC" EXACT [] xref: MIM:615225 is_a: DOID:3149 ! keratoacanthoma is_a: DOID:9001946 ! Skin Abnormalities is_a: DOID:9008245 ! Conjunctival Neoplasms [Term] id: DOID:9007940 name: Primary Bile Acid Malabsorption 1 alt_id: MIM:613291 synonym: "PBAM1" EXACT [] synonym: "SLC10A2-RELATED CONDITION" EXACT [] is_a: DOID:9003880 ! Primary Bile Acid Malabsorption created_by: mtutaj creation_date: 2021-08-25T10:06:21Z [Term] id: DOID:9007941 name: Retinal Dystrophy with or without Macular Staphyloma synonym: "CFAP410-RELATED CONDITION" BROAD [] synonym: "RDMS" EXACT [] synonym: "retinal dystrophy with macular staphyloma" EXACT [] xref: MIM:617547 is_a: DOID:8501 ! fundus dystrophy created_by: rgd creation_date: 2017-07-12T00:00:00Z [Term] id: DOID:9007942 name: Nephrosis with Deafness and Urinary Tract and Digital Malformations alt_id: MIM:256200 synonym: "Nephrosis Deafness Urinary Tract Digital Malformation" EXACT [] xref: MESH:C536402 is_a: DOID:2527 ! nephrosis is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008681 ! Deafness [Term] id: DOID:9007943 name: Microphthalmia/Coloboma 12 synonym: "MCOPCB12" EXACT [] xref: MIM:120200 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma created_by: tutajm creation_date: 2024-03-18T12:17:20Z [Term] id: DOID:9007944 name: IMMUNE DYSREGULATION, AUTOIMMUNITY, AND AUTOINFLAMMATION def: "This disease is an immunologic disorder characterized by anemia and thrombocytopenia associated with circulating autoantibodies, positive Coombs test, and increased levels of proinflammatory cytokines due to constitutive activation of immune-related signaling pathways." [MIM:620514] synonym: "ACTIVATING PLCG1 VARIANT-ASSOCIATED SYNDROME" EXACT [] synonym: "APLS" EXACT [] synonym: "IDAA" EXACT [] xref: MIM:620514 is_a: DOID:417 ! autoimmune disease is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: slaulederkind creation_date: 2023-11-07T14:11:22Z [Term] id: DOID:9007945 name: Spondyloenchondrodysplasia synonym: "Spondyloenchondromatosis" EXACT [] synonym: "Spondylometaphyseal dysplasia with enchondromatous changes" EXACT [] xref: MESH:C535782 xref: RDO:0001086 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:417 ! autoimmune disease [Term] id: DOID:9007949 name: Ichthyosis, Split Hairs, and Amino Aciduria alt_id: MIM:242550 xref: MESH:C565471 is_a: DOID:1697 ! ichthyosis is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9007950 name: Auditory Perceptual Impairment xref: MESH:C538436 xref: RDO:0004408 is_a: DOID:9001722 ! Dysarthria [Term] id: DOID:9007952 name: Cystinosis, Ocular Nonnephropathic alt_id: MIM:219750 synonym: "Cystinosis, Adult Nonnephropathic" EXACT [] synonym: "Cystinosis, Benign Nonnephropathic" EXACT [] xref: MESH:C535765 xref: ORDO:411641 is_a: DOID:1064 ! cystinosis [Term] id: DOID:9007953 name: Headache Disorders def: "Various conditions with the symptom of HEADACHE. Headache disorders are classified into major groups, such as PRIMARY HEADACHE DISORDERS (based on characteristics of their headache symptoms) and SECONDARY HEADACHE DISORDERS (based on their etiologies). (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [MESH:D020773] synonym: "Cephalgia Syndrome" EXACT [] synonym: "Cephalgia Syndromes" EXACT [] synonym: "Chronic Daily Headache" EXACT [] synonym: "Chronic Daily Headaches" EXACT [] synonym: "Chronic Headache" EXACT [] synonym: "Chronic Headaches" EXACT [] synonym: "Headache Disorder" EXACT [] synonym: "Headache Syndrome" EXACT [] synonym: "Headache Syndromes" EXACT [] synonym: "Intractable Headache" EXACT [] synonym: "Intractable Headaches" EXACT [] xref: EFO:0009550 xref: MESH:D020773 xref: RDO:0007428 is_a: DOID:936 ! brain disease [Term] id: DOID:9007954 name: CRANIOMETADIAPHYSEAL OSTEOSCLEROSIS WITH HIP DYSPLASIA def: "This disease is characterized by macrocephaly, cranial hyperostosis, anvertebral endplate sclerosis, and hip dysplasia. Bone biopsy of patients shows evidence of increased osteoblast and reduced osteoclast function at the growth plate resorption zone, resulting in coarse trabeculae." [MIM:620558] synonym: "CMDOH" EXACT [] xref: MIM:620558 is_a: DOID:0080032 ! craniodiaphyseal dysplasia created_by: slaulederkind creation_date: 2024-01-18T10:03:52Z [Term] id: DOID:9007955 name: Feline Panleukopenia def: "A highly contagious DNA virus infection of the cat family, characterized by fever, enteritis and bone marrow changes. It is also called feline ataxia, feline agranulocytosis, feline infectious enteritis, cat fever, cat plague, and show fever. It is caused by FELINE PANLEUKOPENIA VIRUS or the closely related MINK ENTERITIS VIRUS or CANINE PARVOVIRUS." [MESH:D005254] synonym: "Cat Plague" EXACT [] synonym: "Cat Plagues" EXACT [] synonym: "Feline Agranulocytoses" EXACT [] synonym: "Feline Agranulocytosis" EXACT [] synonym: "Feline Ataxia" EXACT [] synonym: "Feline Ataxias" EXACT [] synonym: "Feline Distemper" EXACT [] synonym: "Feline Distempers" EXACT [] synonym: "Feline Infectious Enteritides" EXACT [] synonym: "Feline Infectious Enteritis" EXACT [] synonym: "Feline Panleukopenias" EXACT [] synonym: "Show Fever" EXACT [] synonym: "Show Fevers" EXACT [] xref: MESH:D005254 is_a: DOID:9000331 ! Parvoviridae Infections is_a: DOID:9005924 ! Cat Diseases [Term] id: DOID:9007956 name: Febrile Seizures def: "Seizures that occur during a febrile episode. It is a common condition, affecting 2-5% of children aged 3 months to five years. An autosomal dominant pattern of inheritance has been identified in some families. The majority are simple febrile seizures (generally defined as generalized onset, single seizures with a duration of less than 30 minutes). Complex febrile seizures are characterized by focal onset, duration greater than 30 minutes, and/or more than one seizure in a 24 hour period. The likelihood of developing epilepsy (i.e., a nonfebrile seizure disorder) following simple febrile seizures is low. Complex febrile seizures are associated with a moderately increased incidence of epilepsy. (From Menkes, Textbook of Child Neurology, 5th ed, p784)" [MESH:D003294] synonym: "COMPLEX FEBRILE SEIZURES" EXACT [] synonym: "Febrile Convulsion" EXACT [] synonym: "Febrile Convulsions" EXACT [] synonym: "Febrile Convulsion Seizure" EXACT [] synonym: "Febrile Convulsion Seizures" EXACT [] synonym: "Febrile Fit" EXACT [] synonym: "Febrile Fits" EXACT [] synonym: "Febrile Seizure" EXACT [] synonym: "febrile seizure, complex" EXACT [] synonym: "febrile seizure, simple" EXACT [] synonym: "Fever Convulsion" EXACT [] synonym: "Fever Convulsions" EXACT [] synonym: "Fever Seizure" EXACT [] synonym: "Fever Seizures" EXACT [] synonym: "MMR-related febrile seizures" NARROW [] synonym: "Pyrexial Convulsion" EXACT [] synonym: "Pyrexial Convulsions" EXACT [] synonym: "Pyrexial Seizure" EXACT [] synonym: "Pyrexial Seizures" EXACT [] xref: EFO:0006519 xref: MESH:D003294 is_a: DOID:1826 ! epilepsy [Term] id: DOID:9007957 name: Transient Neonatal Hyperglycinemia xref: MESH:C562672 is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9268 ! glycine encephalopathy [Term] id: DOID:9007959 name: Neurodegeneration with Ataxia and Late-Onset Optic Atrophy synonym: "NDAXOA" EXACT [] xref: MIM:619259 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:5723 ! optic atrophy is_a: DOID:9004866 ! Ataxia created_by: mtutaj creation_date: 2021-04-13T13:33:51Z [Term] id: DOID:9007960 name: Adult-Onset Muscular Dystrophy with Leukoencephalopathy alt_id: MIM:253590 xref: MESH:C565361 is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9007961 name: Immunodeficiency 126 def: "A susceptibility to immunodeficiency conferred by homozygous or compound heterozygous mutation in the PTCRA gene on chromosome 6p21." [] synonym: "IMD126" EXACT [] synonym: "IMMUNODEFICIENCY 126, SUSCEPTIBILITY TO" EXACT [] xref: MIM:620931 is_a: DOID:612 ! primary immunodeficiency disease created_by: tutajm creation_date: 2024-09-23T14:14:22Z [Term] id: DOID:9007962 name: Craniofacial Microsomia 2 def: "A craniofacial microsomia caused by homozygous or heterozygous mutation in the FOXI3 gene on chromosome 2p11." [] synonym: "CFM2" EXACT [] synonym: "FOXI3-RELATED CONDITION" EXACT [] xref: MIM:620444 xref: MONDO:0958194 is_a: DOID:9008003 ! Mandibulofacial Dysostosis created_by: mtutaj creation_date: 2023-07-25T09:29:29Z [Term] id: DOID:9007963 name: Keratoconus Posticus Circumscriptus with Associated Malformations synonym: "KPC with Associated Malformations" EXACT [] xref: MESH:C565455 is_a: DOID:9006632 ! Keratoconus Posticus Circumscriptus is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007964 name: Arsenic Poisoning def: "Disorders associated with acute or chronic exposure to compounds containing ARSENIC (ARSENICALS) which may be fatal. Acute oral ingestion is associated with gastrointestinal symptoms and an encephalopathy which may manifest as SEIZURES, mental status changes, and COMA. Chronic exposure is associated with mucosal irritation, desquamating rash, myalgias, peripheral neuropathy, and white transverse (Mees) lines in the fingernails. (Adams et al., Principles of Neurology, 6th ed, p1212)" [MESH:D020261] synonym: "Arsenical Neurotoxicity Syndrome" EXACT [] synonym: "Arsenical Neurotoxicity Syndromes" EXACT [] synonym: "Arsenic Encephalopathies" EXACT [] synonym: "Arsenic Encephalopathy" EXACT [] synonym: "Arsenic-Induced Polyneuropathies" EXACT [] synonym: "Arsenic Induced Polyneuropathy" EXACT [] synonym: "Arsenic Poisoning, Nervous System" EXACT [] synonym: "Arsenic Poisonings" EXACT [] synonym: "Inorganic Arsenic Poisoning" EXACT [] synonym: "Inorganic Arsenic Poisonings" EXACT [] synonym: "Nervous System, Organic Arsenic Poisoning" EXACT [] synonym: "Organic Arsenic Poisoning" EXACT [] synonym: "Organic Arsenic Poisonings" EXACT [] xref: MESH:D020261 xref: RDO:0007378 is_a: DOID:9000046 ! Poisoning is_a: DOID:9001363 ! Heavy Metal Poisoning, Nervous System [Term] id: DOID:9007965 name: Vitelliform Macular Dystrophy 3 synonym: "adult-onset foveomacular dystrophies" EXACT [] synonym: "adult-onset foveomacular dystrophy" EXACT [] synonym: "ADULT ONSET VITELLIFORM DYSTROPHY" EXACT [] synonym: "Adult Onset Vitelliform Macular Dystrophy" EXACT [] synonym: "AOFMD" EXACT [] synonym: "AVMD" EXACT [] synonym: "Foveomacular Dystrophy, Adult-Onset, With Choroidal Neovascularization" EXACT [] synonym: "FOVEOMACULAR DYSTROPHY, ADULT-ONSET, WITH OR WITHOUT CHOROIDAL NEOVASCULARIZATION" EXACT [] synonym: "VMD3" EXACT [] xref: MIM:608161 is_a: DOID:0050661 ! vitelliform macular dystrophy created_by: mtutaj creation_date: 2019-02-26T09:29:41Z [Term] id: DOID:9007966 name: Nonsyndromic Sensorineural Hearing Loss synonym: "autosomal dominant nonsyndromic hereditary hearing impairment" NARROW [] synonym: "Nonsyndromic hearing loss, dominant" NARROW [] synonym: "NON-SYNDROMIC HEREDITARY HEARING IMPAIRMENT" EXACT [] synonym: "nonsyndromic hereditary hearing impairment" EXACT [] xref: MESH:C537845 is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:9007967 name: Alpha-Fetoprotein, Hereditary Persistence of def: "A clinically benign autosomal dominant condition characterized by continued expression of alpha-fetoprotein in adult life. Caused by heterozygous mutation in the AFP gene on chromosome 4q13." [MIM:615970] synonym: "HPAFP" EXACT [] xref: MIM:615970 is_a: DOID:655 ! inherited metabolic disorder created_by: mtutaj creation_date: 2022-12-20T09:37:30Z [Term] id: DOID:9007968 name: Ectodermal Dysplasia, Alopecia, Preaxial Polydactyly alt_id: RDO:0003951 synonym: "Absence of body & scalp hair, rounded nails, thin dental enamel, preaxial polydactyly of the feet, and unusual facial appearance" EXACT [] xref: MESH:C538016 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9001487 ! Facies is_a: DOID:9005329 ! Preaxial Polydactyly is_a: DOID:987 ! alopecia [Term] id: DOID:9007969 name: Necrobiotic Xanthogranuloma def: "A cutaneous necrobiotic disorder characterized by firm, yellow plaques or nodules, often in a periorbital distribution. It is often accompanied by an elevated ERYTHROCYTE SEDIMENTATION RATE; LEUKOPENIA; and MONOCLONAL GAMMOPATHY (IgG-kappa type) and systemic involvement." [MESH:D058252] synonym: "Necrobiotic Xanthogranulomas" EXACT [] xref: EFO:1001376 xref: MESH:D058252 is_a: DOID:3345 ! xanthomatosis is_a: DOID:9002019 ! Granuloma is_a: DOID:9005057 ! Necrobiotic Disorders [Term] id: DOID:9007970 name: Chronic Cerebral Hypoperfusion def: "A major factor contributing to cognitive decline in age-related neurological disorders. Such a decrease in cerebral blood flow has been associated with Alzheimer disease and vascular dementia." [] synonym: "CCH" EXACT [] xref: RDO:9000062 is_a: DOID:2316 ! brain ischemia [Term] id: DOID:9007971 name: Nose Neoplasms def: "Tumors or cancer of the NOSE." [MESH:D009669] synonym: "Cancer of Nose" EXACT [] synonym: "Cancer of the Nose" EXACT [] synonym: "Nasal Cancer" EXACT [] synonym: "Nasal Cancers" EXACT [] synonym: "Nasal Neoplasm" EXACT [] synonym: "Nasal Neoplasms" EXACT [] synonym: "Nose Cancer" EXACT [] synonym: "Nose Cancers" EXACT [] synonym: "Nose Neoplasm" EXACT [] xref: MESH:D009669 xref: RDO:0000965 is_a: DOID:2825 ! nose disease is_a: DOID:9001331 ! Skull Neoplasms is_a: DOID:9003744 ! Respiratory Tract Neoplasms is_a: DOID:9006815 ! Otorhinolaryngologic Neoplasms [Term] id: DOID:9007972 name: Vein of Galen Malformations def: "Congenital arteriovenous malformation involving the VEIN OF GALEN, a large deep vein at the base of the brain. The rush of arterial blood directly into the vein of Galen, without passing through the CAPILLARIES, can overwhelm the heart and lead to CONGESTIVE HEART FAILURE." [MESH:D054080] synonym: "Galen Vein Malformations" EXACT [] xref: MESH:D054080 is_a: DOID:0060688 ! arteriovenous malformations of the brain [Term] id: DOID:9007973 name: Genetic Translocation def: "A type of chromosome aberration characterized by CHROMOSOME BREAKAGE and transfer of the broken-off portion to another location, often to a different chromosome." [MESH:D014178] synonym: "Chromosomal Translocation" EXACT [] synonym: "Chromosomal Translocations" EXACT [] synonym: "Genetic Translocations" EXACT [] xref: MESH:D014178 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9007974 name: Torus Palatinus and Torus Mandibularis alt_id: MIM:189700 xref: MESH:C566043 is_a: DOID:203 ! exostosis [Term] id: DOID:9007975 name: Broad Terminal Phalanges, Familial alt_id: MIM:602071 xref: MESH:C566588 is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007976 name: Vesicovaginal Fistula def: "An abnormal anatomical passage between the URINARY BLADDER and the VAGINA." [MESH:D014719] synonym: "Vesico Vaginal Fistula" EXACT [] synonym: "Vesico Vaginal Fistulae" EXACT [] synonym: "Vesicovaginal Fistulae" EXACT [] synonym: "Vesico-Vaginal Fistulas" EXACT [] synonym: "Vesicovaginal Fistulas" EXACT [] xref: MESH:D014719 is_a: DOID:9002824 ! Vaginal Fistula is_a: DOID:9006172 ! Urinary Bladder Fistula [Term] id: DOID:9007977 name: Asymmetric Short Stature Syndrome alt_id: MIM:108450 xref: MESH:C566248 is_a: DOID:225 ! syndrome is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008296 ! Eye Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9007978 name: Grange Syndrome alt_id: MIM:602531 synonym: "Grange occlusive arterial syndrome" EXACT [] synonym: "GRNG" EXACT [] synonym: "progressive arterial occlusive disease with hypertension, heart defects, bone fragility, and brachysyndactyly" EXACT [] xref: MESH:C566529 is_a: DOID:0050581 ! brachydactyly is_a: DOID:10763 ! hypertension is_a: DOID:11193 ! syndactyly is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:9007979 name: Isolated Microphthalmia with Corectopia alt_id: MIM:156900 synonym: "MCOPCR" EXACT [] synonym: "Microphthalmia And Corectopia" EXACT [] synonym: "Microphthalmia With Myopia And Corectopia" EXACT [] xref: MESH:C563581 is_a: DOID:0080637 ! isolated microphthalmia is_a: DOID:11830 ! myopia is_a: DOID:238 ! pupil disease [Term] id: DOID:9007980 name: Sleep Deprivation def: "The state of being deprived of sleep under experimental conditions, due to life events, or from a wide variety of pathophysiologic causes such as medication effect, chronic illness, psychiatric illness, or sleep disorder." [MESH:D012892] synonym: "Insufficient Sleep Syndrome" EXACT [] synonym: "Insufficient Sleep Syndromes" EXACT [] synonym: "REM Sleep Deprivation" EXACT [] synonym: "REM Sleep Deprivations" EXACT [] synonym: "Sleep Deprivations" EXACT [] synonym: "Sleep Fragmentation" EXACT [] synonym: "Sleep Fragmentations" EXACT [] xref: MESH:D012892 is_a: DOID:9002111 ! Dyssomnias [Term] id: DOID:9007981 name: Pagon Stephan Syndrome synonym: "Septo-optic dysplasia with digital anomalies" EXACT [] xref: GARD:0004195 xref: MESH:C538100 is_a: DOID:0060857 ! septooptic dysplasia is_a: DOID:225 ! syndrome [Term] id: DOID:9007983 name: Cranial Nerves, Congenital Paresis of alt_id: MIM:218100 xref: MESH:C565673 is_a: DOID:5656 ! cranial nerve disease [Term] id: DOID:9007984 name: Fleck Retina of Kandori alt_id: MIM:228990 xref: MESH:C562701 is_a: DOID:8499 ! night blindness [Term] id: DOID:9007985 name: Halal Syndrome synonym: "Microcephaly cleft palate autosomal dominant" EXACT [] xref: MESH:C535622 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9007986 name: NEURODEVELOPMENTAL DISORDER WITH MOTOR REGRESSION, PROGRESSIVE SPASTIC PARAPLEGIA, AND OROMOTOR DYSFUNCTION def: "This disease is an autosomal recessive disorder characterized by onset of progressive motor abnormalities in early childhood after normal early development. Affected individuals show regression of motor function with axial hypotonia, appendicular spasticity, and ataxic gait or loss of ambulation. Short stature and small head circumference or microcephaly are observed." [MIM:620515] synonym: "NEDRSO" EXACT [] xref: MIM:620515 is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2023-11-09T11:39:58Z [Term] id: DOID:9007987 name: NEURODEGENERATION, CHILDHOOD-ONSET, WITH MULTISYSTEM INVOLVEMENT DUE TO MITOCHONDRIAL DYSFUNCTION def: "This disease is an autosomal recessive syndromic disorder characterized primarily by neurologic deficits. Patients show global developmental delay and variably impaired intellectual development with speech delay apparent from infancy. Affected individuals have hypotonia, poor feeding, poor overall growth, and respiratory distress early in life. The disorder is progressive and has features suggestive of a mitochondrial disorder: cataracts, cardiomyopathy, diabetes mellitus, combined oxidative phosphorylation deficiency, and increased lactate." [MIM:620089] synonym: "CONDMIM" EXACT [] xref: MIM:620089 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2022-12-13T08:49:53Z [Term] id: DOID:9007988 name: Granulomatous Interstitial Nephritis def: "Inflammation of the interstitial tissue of the kidney with formation of granulomas." [] synonym: "GIN" EXACT [] is_a: DOID:1063 ! interstitial nephritis created_by: rgd creation_date: 2016-08-18T00:00:00Z [Term] id: DOID:9007989 name: Green Sandford Davison Syndrome xref: MESH:C538221 is_a: DOID:11193 ! syndactyly is_a: DOID:225 ! syndrome [Term] id: DOID:9007991 name: Hereditary Angioedema 8 def: "This disease is an autosomal dominant disorder characterized clinically by recurrent and self-limited episodes of localised edema in various organs, including the face, tongue, larynx, and extremities. The disorder results from enhanced vascular permeability." [MIM:619367] synonym: "HAE8" EXACT [] xref: MIM:619367 is_a: DOID:14735 ! hereditary angioedema created_by: slaulede creation_date: 2021-08-10T17:30:25Z [Term] id: DOID:9007992 name: Hyperphosphatemic Familial Tumoral Calcinosis 1 synonym: "HFTC1" EXACT [] xref: MIM:211900 is_a: DOID:0111063 ! hyperphosphatemic familial tumoral calcinosis created_by: mtutaj creation_date: 2019-05-02T09:14:40Z [Term] id: DOID:9007993 name: Dehydration def: "The condition that results from excessive loss of water from a living organism." [MESH:D003681] synonym: "Water Stress" EXACT [] xref: EFO:0009385 xref: MESH:D003681 is_a: DOID:9004004 ! Water-Electrolyte Imbalance is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9007994 name: ligament rupture def: "This is a partial or complete tear of a ligament, such as the Anterior Cruciate Ligament (ACL) of the knee." [EFO:1002012] xref: EFO:1002012 is_a: DOID:9001913 ! Soft Tissue Injuries created_by: slaulede creation_date: 2023-01-06T11:04:11Z [Term] id: DOID:9007996 name: End Stage Liver Disease def: "Final stage of a liver disease when the liver failure is irreversible and LIVER TRANSPLANTATION is needed." [MESH:D058625] synonym: "Chronic Liver Failure" EXACT [] synonym: "Chronic Liver Failures" EXACT [] xref: EFO:1001311 xref: MESH:D058625 xref: RDO:0007844 is_a: DOID:9007874 ! Liver Failure [Term] id: DOID:9007997 name: Mental Retardation Syndrome, Belgian Type alt_id: MIM:249599 xref: MESH:C537447 is_a: DOID:1059 ! intellectual disability [Term] id: DOID:9007998 name: Hydatidiform Mole, Invasive def: "A uterine tumor derived from persistent gestational TROPHOBLASTS, most likely after a molar pregnancy (HYDATIDIFORM MOLE). Invasive hyadatiform mole develops in about 15% of patients after evacuation of a complete mole and less frequently after other types of gestation. It may perforate the MYOMETRIUM and erode uterine vessels causing hemorrhage." [MESH:D002820] synonym: "Chorioadenoma" EXACT [] synonym: "Chorioadenomas" EXACT [] synonym: "Invasive Hydatidiform Moles" EXACT [] synonym: "Invasive Mole" EXACT [] synonym: "Invasive Moles" EXACT [] xref: MESH:D002820 xref: RDO:0005203 is_a: DOID:9005147 ! Hydatidiform Mole [Term] id: DOID:9007999 name: Pyelocystitis def: "Inflammation of the KIDNEY PELVIS and the URINARY BLADDER." [MESH:D053653] synonym: "Cystopyelitis" EXACT [] xref: EFO:1001835 xref: MESH:D053653 is_a: DOID:1679 ! cystitis is_a: DOID:2744 ! pyelitis [Term] id: DOID:9008 name: psoriatic arthritis alt_id: MIM:607507 def: "An arthritis that is characterized by joint inflammation that usually occurs in combination with psoriasis. (DO)" [http://en.wikipedia.org/wiki/Psoriatic_arthropathy "DO", http://www.mayoclinic.com/health/psoriatic-arthritis/DS00476 "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000413.htm "DO", https://ghr.nlm.nih.gov/condition/psoriatic-arthritis "DO"] synonym: "Arthritic Psoriasis" EXACT [] synonym: "arthritis psoriatica" EXACT [] synonym: "arthropathic psoriasis" EXACT [] synonym: "PSORAS1" NARROW [] synonym: "Psoriasis Arthropathica" EXACT [] synonym: "PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO" EXACT [] synonym: "PSORIATIC ARTHRITIS, SUSCEPTIBILITY TO, 1" NARROW [] synonym: "Psoriatic Arthropathies" EXACT [] synonym: "Psoriatic Arthropathy" EXACT [] xref: EFO:0003778 xref: ICD10CM:L40.5 xref: ICD9CM:696.0 xref: MESH:D015535 xref: NCI:C61277 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:1123 ! spondyloarthropathy is_a: DOID:848 ! arthritis is_a: DOID:8893 ! psoriasis [Term] id: DOID:9008000 name: Autosomal Emery-Dreifuss Muscular Dystrophy def: "Emery-Dreifuss muscular dystrophy associated with mutations on LAMINS (LMNA gene). (MESH)" [] xref: MESH:D000083144 is_a: DOID:11726 ! Emery-Dreifuss muscular dystrophy is_a: DOID:9006138 ! Laminopathies created_by: mtutaj creation_date: 2021-02-18T17:21:11Z [Term] id: DOID:9008001 name: Familial Febrile Seizures 3B synonym: "Familial Febrile Convulsions 3B" EXACT [] xref: MESH:C567821 is_a: DOID:0111297 ! familial febrile seizures [Term] id: DOID:9008002 name: HIATT-NEU-COOPER NEURODEVELOPMENTAL SYNDROME def: "This is a disease characterized by global developmental delay with delayed walking or inability to walk, impaired intellectual development with poor or absent speech, axial hypotonia and dysmorphic facies." [MIM:619311] synonym: "HINCONS" EXACT [] synonym: "RALA-RELATED CONDITION" EXACT [] xref: MIM:619311 is_a: DOID:1059 ! intellectual disability is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2021-06-17T12:48:32Z [Term] id: DOID:9008003 name: Mandibulofacial Dysostosis def: "A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by antimongoloid slant of the palpebral fissures, coloboma of the lower lid, micrognathia and hypoplasia of the zygomatic arches, and microtia. It is transmitted as an autosomal trait. The incomplete form (Treacher Collins syndrome) is characterized by the same anomalies in less pronounced degree. It occurs sporadically, but an autosomal dominant mode of transmission is suspected. (Dorland, 27th ed)" [MESH:D008342] synonym: "Franceschetti-Zwahlen-Klein Syndrome" EXACT [] synonym: "Mandibulofacial Dysostoses" EXACT [] synonym: "TCOF" EXACT [] synonym: "Treacher Collins-Franceschetti Syndrome" EXACT [] xref: MESH:D008342 xref: RDO:0000931 is_a: DOID:2339 ! Crouzon syndrome [Term] id: DOID:9008004 name: Aicardi-Goutieres Syndrome 3 alt_id: MIM:610329 synonym: "AGS3" EXACT [] synonym: "RNASEH2C-RELATED CONDITION" EXACT [] xref: MESH:C563683 is_a: DOID:0050629 ! Aicardi-Goutieres syndrome [Term] id: DOID:9008005 name: Postpartum Thyroiditis def: "Transient autoimmune thyroiditis occurring in the POSTPARTUM PERIOD. It is characterized by the presence of high titers of AUTOANTIBODIES against THYROID PEROXIDASE and THYROGLOBULIN. Clinical signs include the triphasic thyroid hormone pattern: beginning with THYROTOXICOSIS, followed with HYPOTHYROIDISM, then return to euthyroid state by 1 year postpartum." [MESH:D050032] synonym: "Post-partum Thyroiditides" EXACT [] synonym: "Postpartum Thyroiditides" EXACT [] synonym: "Post partum Thyroiditis" EXACT [] xref: EFO:1001403 xref: MESH:D050032 xref: RDO:0007564 is_a: DOID:7188 ! autoimmune thyroiditis is_a: DOID:9001791 ! Puerperal Disorders [Term] id: DOID:9008007 name: Bagatelle Cassidy Syndrome synonym: "Macrocephaly, hypertelorism, short limbs, hearing loss, and developmental delay" EXACT [] synonym: "Macrocephaly short limbs deafness" EXACT [] xref: MESH:C537796 is_a: DOID:225 ! syndrome is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9006380 ! Bilateral Hearing Loss is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9008008 name: Myxomatous Mitral Valve Prolapse 1 alt_id: MIM:157700 synonym: "familial myxomatous valvular disease" EXACT [] synonym: "MITRAL REGURGITATION, FAMILIAL" EXACT [] synonym: "mitral valve prolapse 1" EXACT [] synonym: "MITRAL VALVE PROLAPSE, FAMILIAL" EXACT [] synonym: "Mitral valve prolapse, familial, X-linked" EXACT [] synonym: "MMVP1" EXACT [] synonym: "MVP1" EXACT [] synonym: "MVP PROLAPSED MITRAL VALVE" EXACT [] synonym: "MYXOMATOUS MITRAL VALVE PROLAPSE 1" EXACT [] synonym: "PMV" EXACT [] xref: MESH:C537478 xref: MESH:C563573 is_a: DOID:988 ! mitral valve prolapse [Term] id: DOID:9008009 name: Gigantomastia alt_id: MIM:113670 synonym: "gestational gigantomastia" EXACT [] synonym: "Hypertrophy of the Breast, Juvenile" EXACT [] synonym: "Juvenile gigantomastia" EXACT [] synonym: "macromastia" EXACT [] xref: MESH:C536821 is_a: DOID:9000040 ! Hypertrophy [Term] id: DOID:9008010 name: 4-Hydroxyphenylacetic Aciduria xref: MESH:C535315 xref: RDO:0000362 is_a: DOID:5295 ! intestinal disease [Term] id: DOID:9008011 name: Prostate Cancer, Hereditary, X-Linked 2 synonym: "HPCX2" EXACT [] xref: MESH:C567477 xref: MIM:300704 xref: MONDO:0010405 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9005539 ! Familial Prostate Cancer [Term] id: DOID:9008012 name: Lysosomal Storage Diseases, Nervous System def: "A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes." [MESH:D020140] synonym: "Nervous System Lysosomal Enzyme Disorders" EXACT [] xref: MESH:D020140 is_a: DOID:3211 ! lysosomal storage disease is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:9008013 name: Sporadic Papillary Renal Cell Carcinoma alt_id: RDO:0004542 synonym: "Papillary renal carcinoma, malignant" EXACT [] synonym: "Papillary renal cell carcinoma, bilateral" EXACT [] synonym: "Papillary renal cell carcinoma, familial" EXACT [] synonym: "Papillary renal cell carcinoma, multiple" EXACT [] xref: MESH:C538614 is_a: DOID:4465 ! papillary renal cell carcinoma [Term] id: DOID:9008014 name: Charcot-Marie-Tooth Disease, Dominant Intermediate 1 xref: MESH:C535399 is_a: DOID:0050543 ! Charcot-Marie-Tooth disease intermediate type [Term] id: DOID:9008015 name: Sandhoff Disease, Adult Type is_a: DOID:3323 ! Sandhoff disease [Term] id: DOID:9008016 name: Pena Shokeir Syndrome Type 2 xref: MESH:C536646 xref: RDO:0002286 is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9008017 name: Juvenile Linear Scleroderma xref: MESH:C543758 is_a: DOID:8472 ! localized scleroderma [Term] id: DOID:9008018 name: Nondystrophic Myotonia xref: MESH:C536245 xref: RDO:0001744 is_a: DOID:9008993 ! Myotonia [Term] id: DOID:9008019 name: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY def: "This disease is an autosomal recessive disorder characterized by abnormal development of the proximal cranial sensory ganglia and nerves, mainly CN V (trigeminal nerve) and CN VIII (vestibulocochlear nerve). Affected individuals present at birth or in early infancy with corneal opacities due to absent blinking. Most patients also have sensorineural deafness associated with hypoplastic or malformed cochlea and hypoplasia or agenesis of CN VIII. Developmental delay with poor speech and autistic behavior are also present." [MIM:620469] synonym: "CCDDRD" EXACT [] xref: MIM:620469 is_a: DOID:10124 ! corneal disease is_a: DOID:5656 ! cranial nerve disease is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2023-09-14T09:49:47Z [Term] id: DOID:9008020 name: Goldstein Hutt Syndrome synonym: "Long eyelashes, cataract, and hereditary spherocytosis" EXACT [] synonym: "Trichomegaly, cataract, and hereditary spherocytosis" EXACT [] xref: MESH:C537282 xref: RDO:0003096 is_a: DOID:12971 ! hereditary spherocytosis is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract [Term] id: DOID:9008021 name: Familial Atrial Fibrillation 10 alt_id: RDO:9000186 synonym: "ATFB10" EXACT [] xref: MIM:614022 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9008022 name: Temporomandibular Joint Osteoarthritis def: "A progressive, degenerative joint disease of the temporomandibular joint, resulting from biomechanical stress." [] is_a: DOID:8398 ! osteoarthritis is_a: DOID:9006281 ! Temporomandibular Joint Disorders [Term] id: DOID:9008023 name: Memory Disorders def: "Disturbances in registering an impression, in the retention of an acquired impression, or in the recall of an impression. Memory impairments are associated with DEMENTIA; CRANIOCEREBRAL TRAUMA; ENCEPHALITIS; ALCOHOLISM (see also ALCOHOL AMNESTIC DISORDER); SCHIZOPHRENIA; and other conditions." [MESH:D008569] synonym: "Age-Related Memory Disorder" EXACT [] synonym: "Age Related Memory Disorders" EXACT [] synonym: "Cognitive Retention Disorder" EXACT [] synonym: "Cognitive Retention Disorders" EXACT [] synonym: "Memory Deficit" EXACT [] synonym: "Memory Deficits" EXACT [] synonym: "Memory Disorder" EXACT [] synonym: "memory impairment" EXACT [] synonym: "MEMORY IMPAIRMENT, SUSCEPTIBILITY TO" RELATED [] synonym: "Memory Loss" EXACT [] synonym: "Memory Losses" EXACT [] synonym: "Semantic Memory Disorder" EXACT [] synonym: "Semantic Memory Disorders" EXACT [] synonym: "Spatial Memory Disorder" EXACT [] synonym: "Spatial Memory Disorders" EXACT [] xref: EFO:0001072 xref: MESH:D008569 is_a: DOID:9002320 ! Neurobehavioral Manifestations [Term] id: DOID:9008024 name: Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1 def: "An autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. (OMIM)" [] synonym: "NAXE-RELATED CONDITION" EXACT [] synonym: "PEBEL1" EXACT [] xref: MIM:617186 is_a: DOID:9006901 ! Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy [Term] id: DOID:9008025 name: Priapism, Familial Idiopathic alt_id: MIM:176620 xref: MESH:C531791 is_a: DOID:9286 ! priapism [Term] id: DOID:9008026 name: Myopia 3 alt_id: MIM:603221 synonym: "MYOPIA 3, AUTOSOMAL DOMINANT" EXACT [] synonym: "MYP3" EXACT [] xref: MESH:C566397 is_a: DOID:11830 ! myopia [Term] id: DOID:9008027 name: Aniridia, Microcornea, and Spontaneously Reabsorbed Cataract xref: MESH:C566280 xref: MIM:106230 is_a: DOID:12271 ! aniridia is_a: DOID:83 ! cataract [Term] id: DOID:9008028 name: Visceral Heterotaxy 10, Autosomal def: "Characterized by a failure to generate normal left-right visceral asymmetry during embryogenesis, which can result in heterotaxy syndrome or situs inversus totalis. Caused by homozygous mutation in the CFAP52 gene on chromosome 17p13." [MIM:619607] synonym: "autosomal visceral heterotaxy 10 with male infertility" EXACT [] synonym: "HTX10" EXACT [] xref: MIM:619607 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:12336 ! male infertility created_by: mtutaj creation_date: 2021-11-09T14:29:59Z [Term] id: DOID:9008029 name: Anaplasmataceae Infections def: "Infections with bacteria of the family ANAPLASMATACEAE." [MESH:D000711] synonym: "Anaplasmataceae Infection" EXACT [] synonym: "Haemobartonelloses" EXACT [] synonym: "Haemobartonellosis" EXACT [] xref: EFO:1001123 xref: MESH:D000711 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9008031 name: Ataxia-Microcephaly-Cataract Syndrome alt_id: MIM:208870 synonym: "AMC Syndrome" EXACT [] xref: MESH:C563086 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract is_a: DOID:9002525 ! Hereditary Eye Diseases is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9008032 name: Gracile Bone Dysplasia alt_id: MIM:602361 synonym: "FAM111A-RELATED CONDITION" BROAD [] synonym: "GCLEB" EXACT [] synonym: "Habrodysplasia" EXACT [] synonym: "lethal skeletal dysplasia with gracile bones" EXACT [] synonym: "Osteocraniosplenic syndrome" EXACT [] synonym: "Osteocraniostenosis" EXACT [] xref: MESH:C537291 is_a: DOID:0080006 ! bone development disease is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008033 name: Agammaglobulinemia, Microcephaly, and Severe Dermatitis alt_id: MIM:610483 xref: MESH:C538055 is_a: DOID:10907 ! microcephaly is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:2723 ! dermatitis [Term] id: DOID:9008034 name: Bezoars def: "Concretions of swallowed hair, fruit or vegetable fibers, or similar substances found in the alimentary canal." [MESH:D001630] synonym: "Bezoar" EXACT [] synonym: "Hair Ball" EXACT [] synonym: "Hair Balls" EXACT [] synonym: "Trichobezoar" EXACT [] synonym: "Trichobezoars" EXACT [] xref: MESH:D001630 xref: RDO:0004989 is_a: DOID:9003074 ! Foreign Bodies [Term] id: DOID:9008035 name: Cataract, Autosomal Dominant Nuclear xref: MESH:C565137 xref: RDO:0013864 is_a: DOID:83 ! cataract [Term] id: DOID:9008036 name: Median Cleft Lip, Corpus Callosum, Lipoma, and Skin Polyps alt_id: MIM:155145 synonym: "median cleft of upper lip with polyps of facial skin and nasal mucosa" EXACT [] synonym: "Pai Levkoff syndrome" EXACT [] synonym: "Pai syndrome" EXACT [] xref: MESH:C536135 is_a: DOID:12270 ! coloboma is_a: DOID:3315 ! lipoma is_a: DOID:37 ! skin disease is_a: DOID:9001472 ! Nasal Polyps is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9296 ! cleft lip [Term] id: DOID:9008037 name: Paragangliomas 4 synonym: "carotid body tumors and multiple extraadrenal pheochromocytomas" EXACT [] synonym: "familial extraadrenal pheochromocytoma" EXACT [] synonym: "PARAGANGLIOMAS, HEREDITARY EXTRAADRENAL" EXACT [] synonym: "PGL4" EXACT [] synonym: "pheochromocytoma/paraganglioma syndrome 4" EXACT [] synonym: "PHEOCHROMOCYTOMA, EXTRAADRENAL, AND CERVICAL PARAGANGLIOMA" EXACT [] synonym: "PPGL4" EXACT [] xref: MIM:115310 is_a: DOID:0050773 ! paraganglioma [Term] id: DOID:9008038 name: Digestive System Fistula def: "An abnormal passage communicating between any components of the digestive system, or between any part of the digestive system and surrounding organ(s)." [MESH:D016154] synonym: "Digestive System Fistulas" EXACT [] xref: MESH:D016154 xref: RDO:0005000 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9007343 ! Fistula [Term] id: DOID:9008039 name: Cerebrospinal Fluid Rhinorrhea def: "Discharge of cerebrospinal fluid through the nose. Common etiologies include trauma, neoplasms, and prior surgery, although the condition may occur spontaneously. (Otolaryngol Head Neck Surg 1997 Apr;116(4):442-9)" [MESH:D002559] synonym: "Cerebrospinal Fluid Rhinorrheas" EXACT [] synonym: "Cerebrospinal Rhinorrhea" EXACT [] synonym: "Cerebrospinal Rhinorrheas" EXACT [] synonym: "CSF Rhinorrhea" EXACT [] synonym: "CSF Rhinorrheas" EXACT [] synonym: "Post Traumatic Cerebrospinal Fluid Rhinorrhea" EXACT [] synonym: "Spontaneous Cerebrospinal Fluid Rhinorrhea" EXACT [] synonym: "Traumatic Cerebrospinal Fluid Rhinorrhea" EXACT [] xref: MESH:D002559 xref: RDO:0003871 is_a: DOID:9002965 ! Cerebrospinal Fluid Leak [Term] id: DOID:9008040 name: Kallmann Syndrome 2 with Bimanual Synkinesia xref: MESH:C563652 is_a: DOID:0090083 ! hypogonadotropic hypogonadism 2 with or without anosmia is_a: DOID:9005416 ! Synkinesis [Term] id: DOID:9008041 name: Ovarian Gynandroblastoma xref: EFO:1000422 xref: MESH:C538459 xref: RDO:0004422 is_a: DOID:192 ! sex cord-gonadal stromal tumor [Term] id: DOID:9008042 name: Minimal Pigment Type Albinism synonym: "Oculocutaneous albinism, minimal pigment type" EXACT [] xref: MESH:C537044 is_a: DOID:0050632 ! oculocutaneous albinism [Term] id: DOID:9008043 name: Chromosome 15 Ring synonym: "Ring 15, Chromosome (mosaic pattern)" EXACT [] xref: MESH:C538035 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9008044 name: Generalized Elastolysis xref: MESH:C531660 xref: RDO:0000087 is_a: DOID:3144 ! cutis laxa [Term] id: DOID:9008045 name: Pachyonychia Congenita Recessive alt_id: MIM:260130 alt_id: RDO:0004029 synonym: "Autosomal recessive pachyonychia congenita" EXACT [] xref: MESH:C538094 is_a: DOID:0050449 ! pachyonychia congenita [Term] id: DOID:9008046 name: Neoplasms, Hormone-Dependent def: "Certain tumors that 1, arise in organs that are normally dependent on specific hormones and 2, are stimulated or caused to regress by manipulation of the endocrine environment." [MESH:D009376] synonym: "Hormone-Dependent Neoplasm" EXACT [] xref: MESH:D009376 xref: RDO:0006197 is_a: DOID:14566 ! disease of cellular proliferation [Term] id: DOID:9008048 name: Faye-Petersen Ward Carey Syndrome xref: MESH:C537076 is_a: DOID:10763 ! hypertension is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:9008049 name: Corneal Dystrophy, Fuchs Endothelial, 3 alt_id: MIM:613267 synonym: "CORNEAL DYSTROPHY, FUCHS ENDOTHELIAL, LATE-ONSET" EXACT [] synonym: "FCD2 LOCUS" EXACT [] synonym: "FECD3" EXACT [] xref: MESH:C567678 is_a: DOID:11555 ! Fuchs' endothelial dystrophy [Term] id: DOID:9008050 name: Familial Primary Biliary Cirrhosis xref: MESH:C538544 is_a: DOID:12236 ! primary biliary cholangitis [Term] id: DOID:9008051 name: Luscan-Lumish Syndrome synonym: "LLS" EXACT [] xref: MIM:616831 xref: MONDO:0014791 is_a: DOID:0060041 ! autism spectrum disorder is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9008052 name: Permanent Neonatal Diabetes Mellitus, with Neurologic Features xref: MESH:C563424 is_a: DOID:0060639 ! permanent neonatal diabetes mellitus is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9008053 name: Embryonal Rhabdomyosarcoma 2 alt_id: MIM:180295 synonym: "RMSE2" EXACT [] xref: MESH:C566709 is_a: DOID:3246 ! embryonal rhabdomyosarcoma [Term] id: DOID:9008054 name: JOINT CONTRACTURES, OSTEOCHONDROMAS, AND B-CELL LYMPHOMA def: "This disease is an autosomal recessive systemic disorder characterized by the development of painless fixed contractures of the joints in early childhood. There is evidence of abnormal chondrocyte homeostasis, resulting in contractures, osteopenia, and the development of osteochondromas. Laboratory studies show abnormal levels and function of B- and T-cell subsets, and patients can develop B-cell lymphomas or malignancies." [MIM:620232] synonym: "JCOSL" EXACT [] synonym: "NFAT1 DEFICIENCY" EXACT [] xref: MIM:620232 is_a: DOID:707 ! B-cell lymphoma is_a: DOID:9005193 ! Osteochondroma is_a: DOID:9006836 ! Contracture created_by: slaulede creation_date: 2023-04-28T14:41:21Z [Term] id: DOID:9008055 name: Dental Fistula def: "An abnormal passage in the oral cavity on the gingiva." [MESH:D003751] synonym: "Dental Fistulas" EXACT [] synonym: "Gingival Fistula" EXACT [] synonym: "Gingival Fistulas" EXACT [] xref: MESH:D003751 is_a: DOID:9008436 ! Oral Fistula [Term] id: DOID:9008056 name: Acantholysis def: "Separation of the prickle cells of the stratum spinosum of the epidermis, resulting in atrophy of the prickle cell layer. It is seen in diseases such as pemphigus vulgaris (see PEMPHIGUS) and DARIER DISEASE." [MESH:D000051] synonym: "Acantholyses" EXACT [] xref: MESH:D000051 is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9008057 name: Dystonia Musculorum Deformans def: "A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)" [MESH:D004422] synonym: "childhood torsion disease" EXACT [] synonym: "dystonia deformans progressiva" EXACT [] synonym: "Dystonias, Torsion" EXACT [] synonym: "Idiopathic Torsion Dystonia" EXACT [] synonym: "idiopathic torsion dystonias" EXACT [] synonym: "Oppenheim Ziehen Disease" EXACT [] synonym: "progressive torsion spasm" EXACT [] synonym: "torsion disease of childhood" EXACT [] synonym: "torsion dystonia" EXACT [] xref: MESH:D004422 is_a: DOID:0050835 ! generalized dystonia is_a: DOID:679 ! basal ganglia disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:9008058 name: Neuroblastic Tumor def: "This neoplasm is part of a group of nervous system tumors which display neuronal differentiation. It includes tumors that are composed of immature round cells and tumors that display advanced differentiation and the formation of ganglion cells." [NCI:C6963] xref: EFO:1000393 is_a: DOID:9007058 ! Primitive Peripheral Neuroectodermal Tumors created_by: slaulede creation_date: 2023-01-05T12:31:49Z [Term] id: DOID:9008059 name: Radiation Induced Angiosarcoma of the Breast synonym: "Post-irradiation angiosarcoma of the breast" EXACT [] xref: MESH:C536264 xref: RDO:0001773 is_a: DOID:0001816 ! angiosarcoma is_a: DOID:9000277 ! Radiation-Induced Neoplasms is_a: DOID:9008939 ! Breast Neoplasms [Term] id: DOID:9008060 name: Ulnar/Fibular Ray Defect and Brachydactyly alt_id: MIM:608571 xref: MESH:C563905 is_a: DOID:0050581 ! brachydactyly [Term] id: DOID:9008061 name: Ciliary Dyskinesia with Transposition of Ciliary Microtubules alt_id: MIM:215520 xref: MESH:C567137 is_a: DOID:9001591 ! Ciliary Motility Disorders [Term] id: DOID:9008062 name: Hypogonadism with Low-Grade Mental Deficiency and Microcephaly alt_id: MIM:241000 xref: MESH:C565482 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:1924 ! hypogonadism [Term] id: DOID:9008063 name: Chromosome 5, Trisomy 5q synonym: "5Q35 MICRODUPLICATION SYNDROME" EXACT [] synonym: "Duplication 5q" EXACT [] synonym: "Trisomy 5q" EXACT [] xref: MESH:C537650 xref: RDO:0003527 is_a: DOID:12580 ! Cri-du-Chat syndrome is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9008064 name: Littoral Cell Angioma of the Spleen synonym: "Littoral cell angioma" EXACT [] xref: MESH:C537031 xref: RDO:0002786 is_a: DOID:255 ! hemangioma is_a: DOID:9005343 ! Splenic Neoplasms [Term] id: DOID:9008065 name: Adenoameloblastoma synonym: "adenomatoid ameloblastoma" EXACT [] synonym: "adenomatoid odontogenic tumor" EXACT [] synonym: "pleomorphic adenomatoid tumor" EXACT [] xref: EFO:1000072 xref: MESH:C538229 is_a: DOID:0050894 ! ameloblastoma [Term] id: DOID:9008066 name: Posterior Choanal Atresia alt_id: MIM:608911 xref: MESH:C562435 is_a: DOID:9574 ! choanal atresia [Term] id: DOID:9008067 name: Toxemia def: "A condition produced by the presence of toxins or other harmful substances in the BLOOD." [MESH:D014115] synonym: "Toxemias" EXACT [] xref: MESH:D014115 xref: RDO:0006726 is_a: DOID:9004384 ! Bacterial Infections and Mycoses [Term] id: DOID:9008068 name: Hyperbiliverdinemia synonym: "GREEN JAUNDICE" EXACT [] synonym: "HBLVD" EXACT [] xref: MIM:614156 is_a: DOID:9004898 ! Jaundice [Term] id: DOID:9008069 name: Ben Ari Shuper Mimouni Syndrome xref: MESH:C535427 is_a: DOID:225 ! syndrome is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008070 name: Short-Rib Thoracic Dysplasia 21 without Polydactyly def: "Characterized by rhizomelic limb shortening with bowing of long bones and metaphyseal abnormalities, narrow chest with short broad ribs, and trident pelvis. Caused by homozygous or compound heterozygous mutation in the KIAA0753 gene on chromosome 17p13. (OMIM)" [] synonym: "SRTD21" EXACT [] xref: MIM:619479 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy created_by: mtutaj creation_date: 2021-08-25T09:45:07Z [Term] id: DOID:9008072 name: Cystic Adenomatoid Malformation of Lung, Congenital def: "An abnormality in lung development that is characterized by a multicystic mass resulting from an adenomatous overgrowth of the terminal BRONCHIOLES with a consequent reduction of PULMONARY ALVEOLI. This anomaly is classified into three types by the cyst size." [MESH:D015615] synonym: "Congenital Cystic Adenomatoid Malformation" EXACT [] synonym: "Congenital Cystic Adenomatoid Malformation, Type 1" EXACT [] synonym: "Congenital Cystic Adenomatoid Malformation, Type 2" EXACT [] synonym: "Congenital Cystic Adenomatoid Malformation, Type 3" EXACT [] synonym: "Congenital Cystic Adenomatoid Malformation, Type I" EXACT [] synonym: "Congenital Cystic Adenomatoid Malformation, Type II" EXACT [] synonym: "Congenital Cystic Adenomatoid Malformation, Type III" EXACT [] synonym: "Cystic Adenomatoid Malformation of Lung" EXACT [] synonym: "Lung Malformation, Congenital Cystic Adenomatoid" EXACT [] xref: MESH:D015615 xref: RDO:0006908 is_a: DOID:850 ! lung disease is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:9008073 name: PORETTI-BOLTSHAUSER SYNDROME def: "An autosomal recessive disorder characterized by cerebellar dysplasia, cerebellar vermis hypoplasia, cerebellar cysts in most patients, high myopia, variable retinal dystrophy, and eye movement abnormalities. (OMIM)" [] synonym: "LAMA1-RELATED CONDITION" EXACT [] synonym: "PTBHS" EXACT [] xref: MIM:615960 xref: RDO:9001523 is_a: DOID:225 ! syndrome is_a: DOID:2786 ! cerebellar disease is_a: DOID:9002525 ! Hereditary Eye Diseases created_by: rgd creation_date: 2017-03-30T00:00:00Z [Term] id: DOID:9008075 name: Encephalopathy, Spastic Tetraparesis, and Hypogonadism xref: MESH:C565722 xref: RDO:0014281 is_a: DOID:1924 ! hypogonadism is_a: DOID:9002079 ! Paresis is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9007428 ! Muscle Spasticity [Term] id: DOID:9008076 name: clavicle fractures def: "This is a traumatic or pathologic injury to the clavicle in which the continuity of the clavicle is broken." [NCI:C26987] synonym: "clavicle fracture" EXACT [] xref: EFO:0009614 is_a: DOID:9002589 ! Bone Fractures created_by: slaulede creation_date: 2023-02-20T17:59:32Z [Term] id: DOID:9008077 name: Aase Smith Syndrome alt_id: MIM:147800 synonym: "Aase-Smith Syndrome I" EXACT [] synonym: "Hydrocephalus cleft palate joint contractures" EXACT [] synonym: "Joint contractures with other abnormalities" EXACT [] xref: MESH:C535332 is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008078 name: Cavernous Malformations of CNS and Retina xref: MESH:C566152 xref: RDO:0014593 is_a: DOID:9003443 ! Central Nervous System Vascular Malformations [Term] id: DOID:9008079 name: Neurasthenia def: "A mental disorder characterized by chronic fatigue and concomitant physiologic symptoms." [MESH:D009440] synonym: "Neurasthenic Neuroses" EXACT [] xref: MESH:D009440 xref: RDO:0006202 is_a: DOID:4737 ! somatoform disorder [Term] id: DOID:9008080 name: Hemic and Lymphatic Diseases def: "Hematologic diseases and diseases of the lymphatic system collectively. Hemic diseases include disorders involving the formed elements (e.g., ERYTHROCYTE AGGREGATION, INTRAVASCULAR) and chemical components (e.g., BLOOD PROTEIN DISORDERS); lymphatic diseases include disorders relating to lymph, lymph nodes, and lymphocytes." [MESH:D006425] subset: RGD_JBrowse_slim xref: MESH:D006425 is_a: DOID:7 ! disease of anatomical entity [Term] id: DOID:9008081 name: Acute Brachial Neuritis alt_id: RDO:0004547 synonym: "acute brachial neuritis syndrome" EXACT [] synonym: "acute brachial radiculitis syndrome" EXACT [] synonym: "acute shoulder neuritis" EXACT [] xref: MESH:C538620 is_a: DOID:3689 ! brachial plexus neuritis [Term] id: DOID:9008082 name: Plagiocephaly, Nonsynostotic def: "A deformity of the SKULL that is not due to bone fusion (SYNOSTOSIS), such as craniosynostoses, and is characterized by an asymmetric skull and face. It is observed with an increased frequency in INFANTS after the adoption of supine sleeping recommendations to prevent SUDDEN INFANT DEATH SYNDROME." [MESH:D049068] synonym: "Deformational Plagiocephalies" EXACT [] synonym: "Deformational Plagiocephaly" EXACT [] synonym: "Positional Plagiocephalies" EXACT [] synonym: "Positional Plagiocephaly" EXACT [] xref: MESH:D049068 xref: RDO:0007553 is_a: DOID:9009021 ! Plagiocephaly [Term] id: DOID:9008084 name: Metaphyseal Chondrodysplasia, Pena Type alt_id: MIM:250300 xref: MESH:C565399 is_a: DOID:9000073 ! Metaphyseal Chondrodysplasia [Term] id: DOID:9008085 name: Cataracts, Ataxia, Short Stature, and Mental Retardation alt_id: MIM:300619 synonym: "CASM syndrome" EXACT [] synonym: "CATARACT, ATAXIA, SHORT STATURE, AND IMPAIRED INTELLECTUAL DEVELOPMENT" EXACT [] synonym: "cataract, ataxia, short stature, and mental retardation" EXACT [] xref: MESH:C535345 is_a: DOID:1059 ! intellectual disability is_a: DOID:83 ! cataract is_a: DOID:9004866 ! Ataxia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9008086 name: Developmental Disabilities def: "Disorders in which there is a delay in development based on that expected for a given age level or stage of development. These impairments or disabilities originate before age 18, may be expected to continue indefinitely, and constitute a substantial impairment. Biological and nonbiological factors are involved in these disorders. (From American Psychiatric Glossary, 6th ed)" [MESH:D002658] synonym: "Child Development Deviation" EXACT [] synonym: "Child Development Deviations" EXACT [] synonym: "Child Development Disorder" EXACT [] synonym: "Child Development Disorders" EXACT [] synonym: "Child Development Disorders, Specific" EXACT [] synonym: "Developmental Delay" EXACT [] synonym: "Developmental Delay Disorder" EXACT [] synonym: "Developmental Delay Disorders" EXACT [] synonym: "Developmental Disability" EXACT [] synonym: "Global developmental delay" EXACT [] xref: EFO:0003852 xref: MESH:D002658 xref: MONDO:0005287 xref: NCI:C116942 is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:9008087 name: Chromosome 18 Pericentric Inversion alt_id: MIM:609334 xref: MESH:C563734 is_a: DOID:1059 ! intellectual disability is_a: DOID:150 ! disease of mental health is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008088 name: Neonatal Inflammatory Skin and Bowel Disease synonym: "NISBD" EXACT [] is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:2723 ! dermatitis is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9008090 name: Chlamydiaceae Infections def: "Infections with bacteria of the family CHLAMYDIACEAE." [MESH:D002694] synonym: "Chlamydiaceae Infection" EXACT [] xref: EFO:1001288 xref: MESH:D002694 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9008091 name: Optic Nerve Injuries def: "Injuries to the optic nerve induced by a trauma to the face or head. These may occur with closed or penetrating injuries. Relatively minor compression of the superior aspect of orbit may also result in trauma to the optic nerve. Clinical manifestations may include visual loss, PAPILLEDEMA, and an afferent pupillary defect." [MESH:D020221] synonym: "Cranial Nerve II Injuries" EXACT [] synonym: "Optic Nerve Avulsion" EXACT [] synonym: "Optic Nerve Avulsions" EXACT [] synonym: "Optic Nerve Contusion" EXACT [] synonym: "Optic Nerve Contusions" EXACT [] synonym: "Optic Nerve Injury" EXACT [] synonym: "Optic Nerve Transection" EXACT [] synonym: "Optic Nerve Transections" EXACT [] synonym: "Optic Nerve Trauma" EXACT [] synonym: "Optic Nerve Traumas" EXACT [] synonym: "Second Cranial Nerve Injuries" EXACT [] synonym: "Second Cranial Nerve Trauma" EXACT [] synonym: "TON" EXACT [] synonym: "Traumatic Optic Neuropathies" EXACT [] synonym: "Traumatic Optic Neuropathy" EXACT [] xref: MESH:D020221 xref: RDO:0007358 is_a: DOID:1891 ! optic nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9008092 name: Visceral Prolapse def: "The prolapse or downward displacement of the VISCERA." [MESH:D014782] synonym: "Splanchnoptosis" EXACT [] synonym: "Visceroptosis" EXACT [] xref: MESH:D014782 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9008409 ! Pelvic Organ Prolapse [Term] id: DOID:9008093 name: Immunodeficiency 81 def: "An autosomal recessive complex disorder with onset of recurrent infections, including fungal infections, in early infancy, associated with T-cell, neutrophil, and NK dysfunction. Caused by homozygous mutation in the SLP76 gene (LCP2) on chromosome 5q33. (OMIM)" [] synonym: "IMD81" EXACT [] xref: MIM:619374 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2021-06-23T11:18:27Z [Term] id: DOID:9008094 name: Multifocal Fibrosclerosis alt_id: MIM:228800 synonym: "Mediastinal fibrosis, familial" EXACT [] synonym: "Retroperitoneal fibrosis, familial" EXACT [] xref: MESH:C537375 is_a: DOID:9005176 ! Retroperitoneal Fibrosis [Term] id: DOID:9008095 name: Hereditary Central Nervous System Demyelinating Diseases alt_id: OMIA:001130 def: "Inherited conditions characterized by a loss of MYELIN in the central nervous system." [MESH:D020279] synonym: "leucodystrophy" EXACT [] xref: MESH:D020279 is_a: DOID:3213 ! demyelinating disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:9008096 name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS def: "This disease is an X-liked recessive disorder characterized by global developmental delay, early-onset seizures, and progressive systemic iron deposition particularly affecting the liver and resulting in juvenile-onset hemochromatosis." [MIM:301072] synonym: "FCCS" EXACT [] synonym: "FERRO-CEREBRO-CUTANEOUS SYNDROME" EXACT [] synonym: "NEDEPH" EXACT [] xref: MIM:301072 is_a: DOID:1826 ! epilepsy is_a: DOID:2352 ! hemochromatosis is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2022-06-30T10:10:32Z [Term] id: DOID:9008097 name: Whistling Face Syndrome, Recessive Form xref: MESH:C536699 xref: RDO:0002355 is_a: DOID:2339 ! Crouzon syndrome [Term] id: DOID:9008098 name: Hantavirosis synonym: "Hantavirus fever" EXACT [] xref: MESH:C535630 is_a: DOID:11266 ! Hantavirus hemorrhagic fever with renal syndrome [Term] id: DOID:9008099 name: Granulosis Rubra Nasi alt_id: MIM:139000 xref: MESH:C562483 is_a: DOID:9004062 ! Hyperhidrosis is_a: DOID:9008246 ! Papulosquamous Skin Diseases [Term] id: DOID:9008101 name: Flynn Aird Syndrome alt_id: MIM:136300 def: "A rare, hereditary, neurological disease that is inherited in an autosomal dominant fashion. [Wikipedia]" [] xref: MESH:C537066 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:216 ! dental caries is_a: DOID:225 ! syndrome is_a: DOID:331 ! central nervous system disease is_a: DOID:37 ! skin disease is_a: DOID:381 ! arthropathy is_a: DOID:83 ! cataract [Term] id: DOID:9008102 name: FACES Syndrome xref: MESH:C536384 is_a: DOID:225 ! syndrome is_a: DOID:37 ! skin disease is_a: DOID:9001109 ! Anorexia is_a: DOID:9001487 ! Facies is_a: DOID:9007346 ! Cachexia is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9008103 name: Seasonal Allergic Rhinitis def: "Allergic rhinitis that occurs at the same time every year. It is characterized by acute CONJUNCTIVITIS with lacrimation and ITCHING, and regarded as an allergic condition triggered by specific ALLERGENS." [MESH:D006255] synonym: "hay fever" EXACT [] synonym: "hayfever" EXACT [] synonym: "pollinoses" EXACT [] synonym: "pollinosis" EXACT [] synonym: "seasonal allergic rhinitides" EXACT [] xref: EFO:0003956 xref: MESH:D006255 is_a: DOID:4481 ! allergic rhinitis [Term] id: DOID:9008104 name: Cancer Pain def: "Pain that may be caused by or related to cellular, tissue, and systemic changes that occur during NEOPLASM growth, tissue invasion, and METASTASIS." [MESH:D000072716] synonym: "Cancer Associated Pain" EXACT [] synonym: "Cancer-Associated Pains" EXACT [] synonym: "Cancer Pains" EXACT [] synonym: "Cancer Related Pain" EXACT [] synonym: "Cancer-Related Pains" EXACT [] synonym: "Neoplasm Associated Pain" EXACT [] synonym: "Neoplasm-Associated Pains" EXACT [] synonym: "Neoplasm Related Pain" EXACT [] synonym: "Neoplasm-Related Pains" EXACT [] synonym: "Oncological Pain" EXACT [] synonym: "Oncological Pains" EXACT [] synonym: "Oncology Pain" EXACT [] synonym: "Oncology Pains" EXACT [] synonym: "Tumor Associated Pain" EXACT [] synonym: "Tumor-Associated Pains" EXACT [] synonym: "Tumor Related Pain" EXACT [] synonym: "Tumor-Related Pains" EXACT [] xref: MESH:D000072716 is_a: DOID:9000641 ! Pain [Term] id: DOID:9008105 name: Cystic, Mucinous, and Serous Neoplasms def: "Neoplasms containing cyst-like formations or producing mucin or serum." [MESH:D018297] synonym: "Papillary Cystic Neoplasm" NARROW [] xref: EFO:1000448 xref: EFO:1000889 xref: MESH:D018297 is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:9008106 name: Vaccine-Preventable Diseases def: "Diseases for which vaccines exist that can confer partial or complete protection." [MESH:D000079263] synonym: "Vaccine Preventable Diseases" EXACT [] xref: MESH:D000079263 is_a: DOID:0050117 ! disease by infectious agent created_by: slaulede creation_date: 2020-02-07T14:40:43Z [Term] id: DOID:9008107 name: Microcephaly with Mental Retardation and Digital Anomalies alt_id: MIM:251255 synonym: "Jawad syndrome" EXACT [] synonym: "JWDS" EXACT [] synonym: "Kelly syndrome" EXACT [] synonym: "RBBP8-related disorder" BROAD [] synonym: "RBBP8-related disorders" BROAD [] xref: MESH:C567101 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9008108 name: Mallory-Weiss Syndrome def: "A condition characterized by mucosal tears at the ESOPHAGOGASTRIC JUNCTION, sometimes with HEMATEMESIS. Typically it is caused by forceful bouts of retching or VOMITING." [MESH:D008309] synonym: "Gastroesophageal Laceration Hemorrhage" EXACT [] synonym: "Gastroesophageal Laceration-Hemorrhages" EXACT [] synonym: "Mallory Weiss Laceration" EXACT [] synonym: "Mallory Weiss Tear" EXACT [] synonym: "Mucosal Lacerations Gastroesophageal Junction" EXACT [] synonym: "Mucosal Lacerations-Gastroesophageal Junctions" EXACT [] xref: MESH:D008309 xref: RDO:0006054 is_a: DOID:225 ! syndrome is_a: DOID:9001148 ! Esophageal Perforation [Term] id: DOID:9008109 name: Sebocystomatosis xref: MESH:C580471 is_a: DOID:0111556 ! steatocystoma multiplex [Term] id: DOID:9008110 name: Blister def: "Visible accumulations of fluid within or beneath the epidermis." [MESH:D001768] synonym: "Bleb" EXACT [] synonym: "Blebs" EXACT [] synonym: "Blisters" EXACT [] synonym: "Bulla" EXACT [] synonym: "Bullae" EXACT [] synonym: "Bullous Lesion" EXACT [] synonym: "Bullous Lesions" EXACT [] synonym: "Vesication" EXACT [] synonym: "Vesications" EXACT [] xref: MESH:D001768 is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9008111 name: Metatropic Dwarfism, Type II synonym: "Metatropic dwarfism, type 2" EXACT [] synonym: "Metatropic dysplasia 2" EXACT [] synonym: "Metatropic Dysplasia Type II" EXACT [] xref: MESH:C581628 xref: RDO:0015940 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9008112 name: Ventricular Fibrillation, Paroxysmal Familial, 1 alt_id: MIM:603829 synonym: "VENTRICULAR FIBRILLATION, PAROXYSMAL FAMILIAL, TYPE 1" EXACT [] synonym: "VF1" EXACT [] synonym: "VF1 VENTRICULAR FIBRILLATION DURING MYOCARDIAL INFARCTION, SUSCEPTIBILITY" RELATED [] xref: MESH:C567851 xref: RDO:0012065 is_a: DOID:9004416 ! Paroxysmal Ventricular Fibrillation [Term] id: DOID:9008113 name: Tissue Adhesions def: "Pathological processes consisting of the union of the opposing surfaces of a wound." [MESH:D000267] synonym: "Surgery-Induced Tissue Adhesion" EXACT [] synonym: "surgery induced tissue adhesions" EXACT [] synonym: "Surgical Adhesion" EXACT [] synonym: "Surgical Adhesions" EXACT [] synonym: "tissue adhesion" EXACT [] xref: MESH:D000267 is_a: DOID:9004739 ! Cicatrix [Term] id: DOID:9008114 name: Helicobacter Infections alt_id: MIM:600263 def: "Infections with organisms of the genus HELICOBACTER, particularly, in humans, HELICOBACTER PYLORI. The clinical manifestations are focused in the stomach, usually the gastric mucosa and antrum, and the upper duodenum. This infection plays a major role in the pathogenesis of type B gastritis and peptic ulcer disease." [MESH:D016481] synonym: "Helicobacter Infection" EXACT [] synonym: "HELICOBACTER PYLORI INFECTION, SUSCEPTIBILITY TO" RELATED [] xref: EFO:1000961 xref: MESH:D016481 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9008115 name: Abdominal Abscess def: "An abscess located in the abdominal cavity, i.e., the cavity between the diaphragm above and the pelvis below. (From Dorland, 27th ed)" [MESH:D018784] synonym: "Abdominal Abscesses" EXACT [] synonym: "Intra-Abdominal Abscess" EXACT [] synonym: "Intra-Abdominal Abscesses" EXACT [] xref: EFO:1001753 xref: MESH:D018784 is_a: DOID:9000325 ! Abscess [Term] id: DOID:9008116 name: Microcephaly Nonsyndromal synonym: "Nonsyndromic microcephaly" EXACT [] xref: MESH:C537542 xref: RDO:0003401 is_a: DOID:10907 ! microcephaly [Term] id: DOID:9008117 name: Central Auditory Diseases alt_id: RDO:0004945 def: "Disorders of hearing or auditory perception due to pathological processes of the AUDITORY PATHWAYS in the CENTRAL NERVOUS SYSTEM. These include CENTRAL HEARING LOSS and AUDITORY PERCEPTUAL DISORDERS." [MESH:D001304] synonym: "auditory cortex disorder" EXACT [] synonym: "Auditory Cortex Disorders" EXACT [] synonym: "Central Auditory Disease" EXACT [] synonym: "Central Auditory Dysfunction" EXACT [] synonym: "central auditory dysfunctions" EXACT [] synonym: "Central Auditory Pathway Disorders" EXACT [] xref: MESH:D001304 is_a: DOID:2889 ! retrocochlear disease is_a: DOID:936 ! brain disease [Term] id: DOID:9008118 name: Neuraminidase Deficiency alt_id: MIM:256550 synonym: "CHERRY RED SPOT--MYOCLONUS SYNDROME" NARROW [] synonym: "glycoprotein neuraminidase deficiency" EXACT [] synonym: "lipomucopolysaccharidosis" EXACT [] synonym: "ML I" EXACT [] synonym: "mucolipidoses type I" EXACT [] synonym: "mucolipidosis I" EXACT [] synonym: "Mucolipidosis type 1" EXACT [] synonym: "mucolipidosis type I" EXACT [] synonym: "Neu1 Deficiency" EXACT [] synonym: "Neu Deficiency" EXACT [] synonym: "Neug Deficiency" EXACT [] synonym: "neuraminidase 1 deficiency" EXACT [] synonym: "Sialidase deficiency" EXACT [] synonym: "Sialidoses, type 2" EXACT [] synonym: "Sialidosis, Type I" EXACT [] synonym: "sialidosis, type II" EXACT [] xref: MESH:C537366 xref: MONDO:0017734 xref: NCI:C125596 xref: ORDO:309294 is_a: DOID:3343 ! glycoproteinosis [Term] id: DOID:9008119 name: Vertebral, Cardiac, Renal, and Limb Defects Syndromes synonym: "vertebral, cardiac, renal, and limb defects syndrome" EXACT [] xref: MIM:PS617660 is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2020-05-07T11:16:20Z [Term] id: DOID:9008120 name: Orotic Aciduria II synonym: "OMP Decarboxylase Deficiency" EXACT [] synonym: "Orotidylic Decarboxylase Deficiency" EXACT [] xref: MESH:C562589 is_a: DOID:653 ! purine-pyrimidine metabolic disorder [Term] id: DOID:9008121 name: Lipoyltransferase 1 Deficiency synonym: "LIPT1D" EXACT [] xref: MIM:616299 xref: ORDO:401862 is_a: DOID:3652 ! Leigh disease created_by: rgd creation_date: 2015-06-18T00:00:00Z [Term] id: DOID:9008122 name: ISOLATED HYPERFERRITINEMIA def: "This disease is an autosomal recessive condition characterized by increased serum ferritin levels in the absence of iron overload or other clinical symptoms." [MIM:620729] synonym: "HRFT" EXACT [] synonym: "HYPERFERRITINEMIA" BROAD [] xref: MIM:620729 is_a: DOID:9001887 ! Hyperferritinemia created_by: slaulederkind creation_date: 2024-05-23T13:54:40Z [Term] id: DOID:9008123 name: Bleeding Disorder, Vascular-Type def: "An autosomal dominant condition characterized by spontaneous episodic bleeding usually beginning in childhood. Caused by heterozygous mutation in the APOLD1 gene on chromosome 12p13." [MIM:620715] synonym: "BDVAS" EXACT [] xref: MIM:620715 is_a: DOID:1247 ! blood coagulation disease created_by: tutajm creation_date: 2024-02-19T14:38:10Z [Term] id: DOID:9008124 name: Congenital Absence of Gluteal Muscles alt_id: MIM:231970 synonym: "absence of gluteal muscles" EXACT [] xref: MESH:C535561 is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9008126 name: Cerebellar, Ocular, Craniofacial, and Genital Syndrome def: "A disease characterized by moderate to severe developmental delay and impaired intellectual development, severe cerebellar hypoplasia, a noticeably short forehead, medially sparse/flared and laterally extended eyebrows, corneal dystrophy, underdeveloped labioscrotal folds, and tufts of hair extruding from the lactiferous ducts with breast and nipple underdevelopment." [] synonym: "COFG" EXACT [] xref: MIM:618479 is_a: DOID:15 ! reproductive system disease is_a: DOID:2786 ! cerebellar disease is_a: DOID:5614 ! eye disease is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulede creation_date: 2019-09-10T15:04:47Z [Term] id: DOID:9008128 name: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM def: "This disease is characterized by global developmental delay, poor overall growth, severely impaired motor development with hypotonia and/or ataxia, and dysmorphic facial features. Affected individuals have impaired intellectual development, which can be severe." [MIM:620719] synonym: "NEDMSF" EXACT [] synonym: "PUM1-RELATED CONDITION" BROAD [] xref: MIM:620719 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008297 ! Motor Disorders created_by: mahimavedi creation_date: 2024-03-04T13:41:56Z [Term] id: DOID:9008129 name: Manz Syndrome synonym: "Familial hypomagnesemia - hypercalciuria" EXACT [] xref: MESH:C535709 is_a: DOID:0060879 ! primary hypomagnesemia is_a: DOID:12679 ! nephrocalcinosis is_a: DOID:225 ! syndrome [Term] id: DOID:9008130 name: Hordnes Engebretsen Knudtson syndrome xref: MESH:C536067 xref: RDO:0001488 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:2340 ! craniosynostosis is_a: DOID:6420 ! pulmonary valve stenosis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008131 name: Parietal Foramina 2 alt_id: MIM:609597 synonym: "PFM2" EXACT [] xref: MESH:C566510 is_a: DOID:0060285 ! parietal foramina [Term] id: DOID:9008132 name: Brittle Bone Disorder alt_id: MIM:603828 xref: MESH:C565842 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9008133 name: Glaucoma 1, Open Angle, G alt_id: MIM:609887 synonym: "GLC1G" EXACT [] synonym: "WDR36-RELATED CONDITION" EXACT [] xref: MESH:C563692 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9008134 name: Pectoralis Muscle, Absence of xref: MESH:C566793 xref: RDO:0015039 is_a: DOID:0080000 ! muscular disease [Term] id: DOID:9008135 name: Bacterial Zoonoses def: "Bacterial infections that may be transmitted between non-human animals and HUMANS. (MESH)" [] synonym: "Bacterial Zoonosis" EXACT [] synonym: "Bacterial Zoonotic Diseases" EXACT [] synonym: "Bacterial Zoonotic Infections" EXACT [] synonym: "Bacterial Zoonotic Spillover" EXACT [] xref: MESH:D000086966 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:9002781 ! Zoonoses created_by: mtutaj creation_date: 2020-12-21T20:31:36Z [Term] id: DOID:9008136 name: Pilarowski-Bjornsson Syndrome def: "An autosomal dominant neurodevelopmental disorder characterized by delayed development, intellectual disability, often with autistic features, speech apraxia, and mild dysmorphic features. (OMIM)" [] synonym: "developmental delay and speech apraxia with or without seizures" EXACT [] synonym: "PILBOS" EXACT [] xref: MIM:617682 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:9008137 name: Apical Hypertrophic Cardiomyopathy and Neuropathy xref: MIM:516070 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9006306 ! Apical Hypertrophic Cardiomyopathy created_by: rgd creation_date: 2015-07-14T00:00:00Z [Term] id: DOID:9008138 name: Ductal Carcinoma def: "Malignant neoplasms involving the ductal systems of any of a number of organs, such as the MAMMARY GLANDS, the PANCREAS, the PROSTATE, or the LACRIMAL GLAND." [] synonym: "ductal carcinomas" EXACT [] xref: MESH:D044584 is_a: DOID:299 ! adenocarcinoma is_a: DOID:9008490 ! Ductal, Lobular, and Medullary Neoplasms [Term] id: DOID:9008139 name: Alport Syndrome-Like Hereditary Nephritis xref: MESH:C562890 xref: RDO:0012416 is_a: DOID:10983 ! Alport syndrome [Term] id: DOID:9008140 name: CAHMR Syndrome alt_id: MIM:211770 synonym: "Cataract, Hypertrichosis, Mental Retardation syndrome" EXACT [] xref: MESH:C537959 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:83 ! cataract [Term] id: DOID:9008142 name: Kallmann Syndrome 6 xref: MESH:C567199 is_a: DOID:3614 ! Kallmann syndrome [Term] id: DOID:9008143 name: Deal Barratt Dillon Syndrome synonym: "Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea" EXACT [] xref: MESH:C538206 xref: RDO:0004149 is_a: DOID:1062 ! Fanconi syndrome is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome is_a: DOID:9004898 ! Jaundice is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9008144 name: Chromosome 1, Deletion q21 q25 synonym: "Deletion 1q21 q25" EXACT [] synonym: "Monosomy 1q21 q25" EXACT [] xref: MESH:C535363 xref: RDO:0000445 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9008145 name: Retinitis Pigmentosa 95 def: "A disease characterized by pale optic discs, attenuation of retinal vessels, and atrophy of the retinal pigment epithelium with bone-spicule pigmentation. Caused by homozygous or compound heterozygous mutation in the RAX2 gene on chromosome 19p13." [MIM:620102] synonym: "RP95" EXACT [] xref: MIM:620102 is_a: DOID:10584 ! retinitis pigmentosa created_by: mtutaj creation_date: 2022-10-27T13:28:52Z [Term] id: DOID:9008146 name: Alopecia, Epilepsy, Pyorrhea, Mental Subnormality alt_id: MIM:104130 synonym: "Adolescent alopecia, dentogingival abnormalities and intellectual disability" NARROW [] synonym: "Alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality" EXACT [] synonym: "Congenital universal alopecia, epilepsy, mental subnormality and pyorrhea" EXACT [] synonym: "Shokeir syndrome" EXACT [] xref: MESH:C537057 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:987 ! alopecia [Term] id: DOID:9008147 name: Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, and Keratoderma def: "CAPOK syndrome is characterized by onset of symptoms in the first year of life, with the development of progressive alopecia, hypo- and hyperpigmented macular skin lesions, palmoplantar keratoderma, and nail dystrophy. Beginning in the third decade of life, patients develop recurrent squamous cell carcinomas. Some patients may have brittle teeth resulting in tooth loss, and multinodular goiter has been observed. CAPOK can be caused by homozygous mutation in the SASH1 gene on chromosome 6q24. (OMIM)" [] synonym: "CAPOK" EXACT [] xref: MIM:618373 is_a: DOID:10123 ! pigmentation disease is_a: DOID:1749 ! squamous cell carcinoma is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:9000648 ! Malformed Nails is_a: DOID:987 ! alopecia created_by: gthayman creation_date: 2019-04-01T16:22:52Z [Term] id: DOID:9008148 name: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE 1D def: "This is a disease characterized by facial dysmorphism, joint hypermobility, muscle hypotonia, and multiple severe herniations, including inguinal, ventral, diaphragmatic, sciatic, and obturator, as well as large diverticula of the gastrointestinal tract and urinary bladder. The skin is thin and translucent with easy bruising." [MIM:620780] synonym: "ARCL1D" EXACT [] synonym: "autosomal recessive cutis laxa type ID" EXACT [] synonym: "CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE ID" EXACT [] xref: MIM:620780 is_a: DOID:0070144 ! autosomal recessive cutis laxa type I created_by: slaulederkind creation_date: 2024-05-10T17:28:14Z [Term] id: DOID:9008149 name: Conductive Deafness with Ptosis and Skeletal Anomalies alt_id: MIM:221320 synonym: "Deafness Conductive Ptosis Skeletal Anomalies" EXACT [] synonym: "Jackson Barr syndrome" EXACT [] xref: MESH:C535993 is_a: DOID:0060260 ! ptosis is_a: DOID:0080006 ! bone development disease is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9008150 name: Ataxia, Deafness, and Cardiomyopathy alt_id: MIM:208750 xref: MESH:C565932 is_a: DOID:0050700 ! cardiomyopathy is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9008151 name: Rectocele def: "Herniation of the RECTUM into the VAGINA." [MESH:D020047] synonym: "Proctocele" EXACT [] synonym: "Proctoceles" EXACT [] synonym: "Rectoceles" EXACT [] xref: EFO:1001837 xref: MESH:D020047 is_a: DOID:1283 ! enterocele is_a: DOID:1285 ! rectal disease [Term] id: DOID:9008152 name: Agammaglobulinemia 8 synonym: "AGM8" EXACT [] synonym: "TCF3-RELATED CONDITION" EXACT [] is_a: DOID:2583 ! agammaglobulinemia created_by: rgd creation_date: 2017-02-14T00:00:00Z [Term] id: DOID:9008153 name: XK Aprosencephaly alt_id: MIM:207770 synonym: "Aprosencephaly-atelencephaly syndrome" EXACT [] synonym: "Aprosencephaly syndrome" EXACT [] synonym: "Garcia-Lurie syndrome" EXACT [] synonym: "XK-aprosencephaly syndrome" EXACT [] synonym: "XK syndrome" EXACT [] xref: MESH:C536767 is_a: DOID:0060668 ! anencephaly is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008155 name: Dental Plaque def: "A film that attaches to teeth, often causing DENTAL CARIES and GINGIVITIS. It is composed of MUCINS, secreted from salivary glands, and microorganisms." [MESH:D003773] xref: MESH:D003773 is_a: DOID:9007861 ! Dental Deposits [Term] id: DOID:9008156 name: Lyngstadaas Syndrome synonym: "Steroid dehydrogenase deficiency dental anomalies" EXACT [] xref: MESH:C537490 xref: RDO:0003336 is_a: DOID:1701 ! steroid inherited metabolic disorder is_a: DOID:225 ! syndrome is_a: DOID:9007917 ! Supernumerary Tooth [Term] id: DOID:9008157 name: Hecht Scott Syndrome synonym: "Limb deficiency-heart malformation syndrome" EXACT [] xref: MESH:C535856 xref: RDO:0001193 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008158 name: Inflammation of the Whole Uveal Tract xref: MESH:C531766 xref: RDO:0000182 is_a: DOID:12030 ! panuveitis [Term] id: DOID:9008159 name: 7p2 Monosomy Syndrome synonym: "Chromosome 7, monosomy 7p2" EXACT [] synonym: "Chromosome 7, partial deletion of short arm (7p2-)" EXACT [] synonym: "Chromosome 7, partial monosomy 7p" EXACT [] synonym: "Chromosome 7, terminal 7p deletion (del 7p21-p22)" EXACT [] xref: MESH:C537818 xref: RDO:0003722 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9008161 name: Sunstroke def: "Heat stroke caused by exposure to the sun. It is characterized by dangerously high BODY TEMPERATURE; red, hot skin; DELUSIONS; CONVULSIONS; or COMA. It can be a life-threatening emergency and is most common in infants and the elderly." [MESH:D013474] synonym: "Sun Stroke" EXACT [] synonym: "Sun Strokes" EXACT [] synonym: "Sunstrokes" EXACT [] xref: MESH:D013474 is_a: DOID:9004649 ! Heat Stroke [Term] id: DOID:9008162 name: Dendritic Keratitis def: "A form of herpetic keratitis characterized by the formation of small vesicles which break down and coalesce to form recurring dendritic ulcers, characteristically irregular, linear, branching, and ending in knoblike extremities. (Dictionary of Visual Science, 3d ed)" [MESH:D007635] synonym: "Dendritic Keratitides" EXACT [] synonym: "Furrow Keratitides" EXACT [] synonym: "Furrow Keratitis" EXACT [] xref: EFO:1001883 xref: MESH:D007635 is_a: DOID:0080158 ! herpes simplex virus keratitis [Term] id: DOID:9008163 name: Chronic Hepatitis B def: "INFLAMMATION of the LIVER in humans caused by HEPATITIS B VIRUS lasting six months or more. It is primarily transmitted by parenteral exposure, such as transfusion of contaminated blood or blood products, but can also be transmitted via sexual or intimate personal contact." [MESH:D019694] xref: MESH:D019694 is_a: DOID:2043 ! hepatitis B is_a: DOID:9008510 ! Chronic Hepatitis [Term] id: DOID:9008164 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MUSCLE TONE ABNORMALITIES AND DISTAL SKELETAL DEFECTS def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent in infancy manifest as speech delay and late walking by a few years. Affected individuals have hypertonia or, more rarely, hypotonia; a notable common feature is facial myokymia with corresponding EMG findings." [MIM:620007] synonym: "IDDMDS" EXACT [] synonym: "PERIPHERAL NERVE HYPEREXCITABILITY SYNDROME" EXACT [] synonym: "PNHS" EXACT [] xref: MIM:620007 is_a: DOID:1059 ! intellectual disability is_a: DOID:17 ! musculoskeletal system disease created_by: slaulede creation_date: 2022-12-09T15:18:05Z [Term] id: DOID:9008165 name: Chromosome Deletion def: "Actual loss of portion of a chromosome." [MESH:D002872] synonym: "chromosome deletions" EXACT [] synonym: "Partial Monosomies" EXACT [] synonym: "Partial Monosomy" EXACT [] xref: MESH:D002872 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:9004684 ! Monosomy [Term] id: DOID:9008166 name: Achondroplastic Dwarfism xref: MESH:C531599 is_a: DOID:4480 ! achondroplasia [Term] id: DOID:9008167 name: Choreoathetosis, Familial Inverted alt_id: MIM:118750 synonym: "Infantile Choreoathetosis of Fisher" EXACT [] xref: MESH:C566127 is_a: DOID:12859 ! choreatic disease is_a: DOID:9008739 ! Athetosis [Term] id: DOID:9008168 name: Familial Anomalous Origin of Right Pulmonary Artery alt_id: MIM:610338 synonym: "ARPA, Familial" EXACT [] synonym: "RIGHT PULMONARY ARTERY, ANOMALOUS ORIGIN OF, WITH VENTRICULAR SEPTAL DEFECT, PATENT FORAMEN OVALE, AND PATENT DUCTUS ARTERIOSUS" EXACT [] xref: MESH:C535681 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9008169 name: Cavernous Transformation of Portal Vein alt_id: MIM:601004 xref: MESH:C563407 is_a: DOID:10762 ! portal hypertension [Term] id: DOID:9008170 name: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia alt_id: MIM:613330 def: "Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet. Spondylo-megaepiphyseal-metaphyseal dysplasia is caused by homozygous inactivating mutations in the NKX3-2 gene on chromosome 4p15. (OMIM)" [] synonym: "SMMD" EXACT [] xref: MESH:C567639 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9008171 name: Progeroid Facial Appearance with Hand Anomalies alt_id: MIM:602249 xref: MESH:C566563 is_a: DOID:3911 ! progeria is_a: DOID:9001487 ! Facies is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9008173 name: Paraparesis def: "Mild to moderate loss of bilateral lower extremity motor function, which may be a manifestation of SPINAL CORD DISEASES; PERIPHERAL NERVOUS SYSTEM DISEASES; MUSCULAR DISEASES; INTRACRANIAL HYPERTENSION; parasagittal brain lesions; and other conditions." [MESH:D020335] synonym: "Cerebral Paraparesis" EXACT [] synonym: "Chronic Progressive Paraparesis" EXACT [] synonym: "Hypotonic Paraparesis" EXACT [] synonym: "Parapareses" EXACT [] synonym: "Spinal Paraparesis" EXACT [] xref: MESH:D020335 is_a: DOID:9002079 ! Paresis [Term] id: DOID:9008174 name: Zimmermann-Laband Syndrome 2 synonym: "ATP6V1B2 RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] synonym: "ZIMMERMANN-LABAND SYNDROME WITH EPILEPTIC ENCEPHALOPATHY" EXACT [] synonym: "ZLS2" EXACT [] xref: MIM:616455 xref: MONDO:14646 is_a: DOID:9004260 ! Zimmerman Laband Syndrome created_by: mtutaj creation_date: 2019-11-12T11:38:47Z [Term] id: DOID:9008175 name: Hereditary Diffuse Leukoencephalopathy with Spheroids 2 def: "An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Caused by heterozygous mutation in the AARS1 gene on chromosome 16q22." [MIM:619661] synonym: "HDLS2" EXACT [] synonym: "hereditary diffuse leukoencephalopathy with spheroids, Swedish type" EXACT [] xref: MIM:619661 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:10579 ! leukodystrophy is_a: DOID:9002704 ! Leukoencephalopathies created_by: mtutaj creation_date: 2022-01-06T14:48:08Z [Term] id: DOID:9008176 name: Lipomatous Hemangiopericytoma xref: MESH:C537029 is_a: DOID:1984 ! rectal benign neoplasm is_a: DOID:264 ! hemangiopericytoma is_a: DOID:3315 ! lipoma [Term] id: DOID:9008177 name: Pashayan Syndrome alt_id: MIM:110050 synonym: "Blepharonasofacial malformation syndrome" EXACT [] xref: MESH:C536303 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008178 name: Sandifer Syndrome synonym: "Sandifer's syndrome" EXACT [] xref: MESH:C537234 is_a: DOID:0050840 ! cervical dystonia is_a: DOID:225 ! syndrome is_a: DOID:8534 ! gastroesophageal reflux disease [Term] id: DOID:9008179 name: Peroxisome Biogenesis Disorder, Complementation Group 7 synonym: "CG7" NARROW [] synonym: "CGB" NARROW [] synonym: "peroxisome biogenesis disorder, complementation group B" NARROW [] xref: MESH:C566422 is_a: DOID:0080377 ! peroxisomal biogenesis disorder [Term] id: DOID:9008180 name: Hydroxylysinuria alt_id: MIM:236900 xref: MESH:C565502 is_a: DOID:1059 ! intellectual disability is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:9008181 name: Severe Combined Immunodeficiency, Atypical synonym: "SCID, atypical" EXACT [] xref: MESH:C537590 xref: RDO:0003459 is_a: DOID:627 ! severe combined immunodeficiency [Term] id: DOID:9008182 name: Aerophagy def: "Spasmodic swallowing of air." [MESH:D000334] synonym: "Air Swallowing" EXACT [] xref: MESH:D000334 xref: RDO:0004762 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9008183 name: Sleep-Wake Transition Disorders def: "Parasomnias characterized by behavioral abnormalities that occur during the transition between wakefulness and sleep (or between sleep and wakefulness)." [MESH:D020922] synonym: "Jactatio Capitis Nocturna" EXACT [] synonym: "Movement Disorders, Rhythmic Nocturnal" EXACT [] synonym: "Nocturnal Leg Cramp" EXACT [] synonym: "Nocturnal Leg Cramps" EXACT [] synonym: "Nocturnal Sleep Head Banging" EXACT [] synonym: "Sleep Starts" EXACT [] synonym: "Sleep Talking" EXACT [] synonym: "Sleep-Wake Transitional Disorder" EXACT [] synonym: "Sleep Wake Transitional Disorders" EXACT [] synonym: "Sleep-Wake Transition Disorder" EXACT [] synonym: "Somnolescent Starts" EXACT [] xref: MESH:D020922 xref: RDO:0007444 is_a: DOID:9004040 ! Parasomnias [Term] id: DOID:9008184 name: Fecal Incontinence def: "Failure of voluntary control of the anal sphincters, with involuntary passage of feces and flatus." [MESH:D005242] synonym: "Fecal Incontinences" EXACT [] xref: EFO:0009523 xref: MESH:D005242 is_a: DOID:1285 ! rectal disease [Term] id: DOID:9008186 name: Hypercarotenemia and Vitamin A Deficiency, Autosomal Recessive alt_id: MIM:277350 xref: MESH:C567486 is_a: DOID:9008550 ! Vitamin A Deficiency is_a: DOID:9969 ! carotenemia [Term] id: DOID:9008187 name: Primary Ovarian Insufficiency 22 def: "A female infertility, with small to atrophic ovaries and no visible ovarian follicles. Caused by homozygous or compound heterozygous mutation in the KASH5 gene on chromosome 19q13." [MIM:620548] synonym: "POF22" EXACT [] synonym: "PREMATURE OVARIAN FAILURE 22" EXACT [] xref: MIM:620548 xref: MONDO:0957822 is_a: DOID:5426 ! primary ovarian insufficiency created_by: tutajm creation_date: 2023-10-24T10:44:46Z [Term] id: DOID:9008189 name: Pyelectasis def: "Dilation of fetal KIDNEY PELVIS. It is a common PRENATAL ULTRASONOGRAPHY finding with no significant long-term sequelae." [MESH:D058536] synonym: "Fetal Pyelectases" EXACT [] synonym: "Fetal Pyelectasis" EXACT [] synonym: "Prenatal Fetal Pyelectases" EXACT [] synonym: "Prenatal Fetal Pyelectasis" EXACT [] synonym: "Pyelectases" EXACT [] xref: MESH:D058536 is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9001984 ! Fetal Diseases [Term] id: DOID:9008190 name: Hypochromic Microcytic Anemia with Iron Overload 2 alt_id: RDO:9000876 synonym: "AHMIO2" EXACT [] xref: MIM:615234 is_a: DOID:9001631 ! Hypochromic Microcytic Anemia with Iron Overload [Term] id: DOID:9008191 name: Autosomal Recessive Nonsyndromic Congenital Nuclear Cataract synonym: "Congenital nuclear cataract, autosomal recessive" EXACT [] xref: MESH:C537298 xref: RDO:0003117 is_a: DOID:83 ! cataract [Term] id: DOID:9008192 name: Neoplastic Processes def: "The pathological mechanisms and forms taken by tissue during degeneration into a neoplasm and its subsequent activity." [MESH:D009385] xref: MESH:D009385 is_a: DOID:14566 ! disease of cellular proliferation is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9008193 name: Cartilage Fractures def: "Breaks in CARTILAGE." [MESH:D050724] synonym: "Cartilage Fracture" EXACT [] xref: MESH:D050724 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9008194 name: Radio-Ulnar Synostosis Type 1 synonym: "Congenital radio-ulnar synostosis" EXACT [] xref: MESH:C536268 is_a: DOID:11193 ! syndactyly is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008195 name: Subvalvular Aortic Stenosis, Eisenberg Type xref: MESH:C538550 xref: RDO:0004490 is_a: DOID:5805 ! subvalvular aortic stenosis [Term] id: DOID:9008196 name: Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism alt_id: MIM:608432 xref: MESH:C564241 is_a: DOID:0060230 ! basal ganglia calcification is_a: DOID:2340 ! craniosynostosis is_a: DOID:9001487 ! Facies [Term] id: DOID:9008197 name: Familial Atrial Fibrillation 3 alt_id: MIM:607554 alt_id: RDO:0012980 synonym: "ATFB3" EXACT [] xref: MESH:C563817 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9008198 name: uterine carcinoma synonym: "carcinoma of uterus" EXACT [] synonym: "uterus carcinoma" EXACT [] xref: EFO:0002919 is_a: DOID:363 ! uterine cancer created_by: slaulede creation_date: 2023-01-13T10:12:44Z [Term] id: DOID:9008199 name: Pelvis-Shoulder Dysplasia alt_id: MIM:169550 synonym: "Kosenow syndrome" EXACT [] synonym: "scapuloiliac dysostosis" EXACT [] xref: MESH:C566811 is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008200 name: Megalencephaly-Polydactyly Syndrome def: "An autosomal dominant disorder characterized by megalencephaly, ventriculomegaly, postaxial polydactyly, and, notably, neuroblastoma during infancy. Caused by heterozygous mutation in the MYCN gene on chromosome 2p24." [MIM:620748] synonym: "MPAPA" EXACT [] xref: MIM:620748 is_a: DOID:769 ! neuroblastoma is_a: DOID:9003071 ! Postaxial Polydactyly is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9009131 ! Ventriculomegaly created_by: tutajm creation_date: 2024-03-18T12:26:08Z [Term] id: DOID:9008201 name: Eye Infections def: "Infection, moderate to severe, caused by bacteria, fungi, or viruses, which occurs either on the external surface of the eye or intraocularly with probable inflammation, visual impairment, or blindness." [MESH:D015817] synonym: "Eye Infection" EXACT [] synonym: "Ocular Infection" EXACT [] synonym: "Ocular Infections" EXACT [] xref: EFO:1001888 xref: MESH:D015817 xref: MONDO:0043885 is_a: DOID:5614 ! eye disease [Term] id: DOID:9008202 name: WT Limb Blood Syndrome alt_id: MIM:194350 synonym: "Radial-ulnar hypoplasia with bone marrow failure and-or leukemia" EXACT [] xref: MESH:C536751 is_a: DOID:1240 ! leukemia is_a: DOID:12449 ! aplastic anemia is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008203 name: Lubinsky Syndrome alt_id: MIM:240950 synonym: "cataracts and testicular failure" EXACT [] synonym: "hypogonadism-cataract syndrome" EXACT [] xref: MESH:C543092 is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:83 ! cataract [Term] id: DOID:9008204 name: White Coat Hypertension def: "Phenomenon where BLOOD PRESSURE readings are elevated only when taken in clinical settings." [MESH:D059466] synonym: "Isolated Clinic Hypertension" EXACT [] synonym: "White Coat Syndrome" EXACT [] xref: MESH:D059466 xref: RDO:0010020 is_a: DOID:10763 ! hypertension [Term] id: DOID:9008205 name: Macrostomia alt_id: MIM:613545 def: "Greatly exaggerated width of the mouth, resulting from failure of union of the maxillary and mandibular processes, with extension of the oral orifice toward the ear. The defect may be unilateral or bilateral. (Dorland, 27th ed)" [MESH:D008265] synonym: "COMMISSURAL CLEFT, ISOLATED" EXACT [] synonym: "LATERAL CLEFT, ISOLATED" EXACT [] synonym: "MACROSTOMIA, ISOLATED" EXACT [] synonym: "Macrostomias" EXACT [] synonym: "TRANSVERSE CLEFT, ISOLATED" EXACT [] xref: MESH:D008265 is_a: DOID:9001018 ! Mouth Abnormalities [Term] id: DOID:9008207 name: Chronic Thyroiditis xref: MESH:C535842 is_a: DOID:7166 ! thyroiditis [Term] id: DOID:9008208 name: Heparin-induced Thrombocytopenia def: "The development of thrombocytopenia, as a result of the administration of one of the various forms of the anticoagulant heparin." [] synonym: "heparin-induced thrombopenia" EXACT [] synonym: "HIT" EXACT [] is_a: DOID:9004593 ! Drug-Induced Immune Thrombocytopenia created_by: rgd creation_date: 2016-03-16T00:00:00Z [Term] id: DOID:9008210 name: Bovine Virus Diarrhea-Mucosal Disease def: "Acute disease of cattle caused by the bovine viral diarrhea viruses (DIARRHEA VIRUSES, BOVINE VIRAL). Often mouth ulcerations are the only sign but fever, diarrhea, drop in milk yield, and loss of appetite are also seen. Severity of clinical disease varies and is strain dependent. Outbreaks are characterized by low morbidity and high mortality." [MESH:D001912] synonym: "Mucosal Disease, Bovine Viral Diarrhea" EXACT [] xref: EFO:0007181 xref: MESH:D001912 is_a: DOID:9004723 ! Cattle Diseases is_a: DOID:9008833 ! Pestivirus Infections [Term] id: DOID:9008211 name: Valinemia alt_id: MIM:277100 synonym: "Hypervalinemia" EXACT [] synonym: "Valine transaminase deficiency" EXACT [] xref: MESH:C536524 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9008212 name: Diabetic Foot def: "Common foot problems in persons with DIABETES MELLITUS, caused by any combination of factors such as DIABETIC NEUROPATHIES; PERIPHERAL VASCULAR DISEASES; and INFECTION. With the loss of sensation and poor circulation, injuries and infections often lead to severe foot ulceration, GANGRENE and AMPUTATION." [MESH:D017719] synonym: "Diabetic Feet" EXACT [] synonym: "Diabetic Foot Ulcer" EXACT [] xref: EFO:1001459 xref: MESH:D017719 is_a: DOID:11713 ! diabetic angiopathy is_a: DOID:9009049 ! Foot Ulcer is_a: DOID:9743 ! diabetic neuropathy [Term] id: DOID:9008213 name: Paragangliomas 7 synonym: "PGL7" EXACT [] synonym: "pheochromocytoma/paraganglioma syndrome 7" EXACT [] synonym: "PPGL7" EXACT [] xref: MIM:618475 is_a: DOID:0050773 ! paraganglioma created_by: mtutaj creation_date: 2019-06-25T14:14:11Z [Term] id: DOID:9008214 name: Genu Valgum def: "An inward slant of the thigh in which the knees are close together and the ankles far apart. Genu valgum can develop due to skeletal and joint dysplasias (e.g., OSTEOARTHRITIS; HURLER SYNDROME); and malnutrition (e.g., RICKETS; FLUORIDE POISONING)." [MESH:D056304] synonym: "Genu Valga" EXACT [] synonym: "Genu Valgas" EXACT [] synonym: "Genu Valgums" EXACT [] synonym: "Knock Knee" EXACT [] synonym: "Knock Knees" EXACT [] xref: MESH:D056304 is_a: DOID:0080001 ! bone disease [Term] id: DOID:9008216 name: Craniosynostosis Syndrome, Autosomal Recessive alt_id: MIM:606529 synonym: "Craniosynostosis Syndrome" EXACT [] xref: MESH:C564700 is_a: DOID:2340 ! craniosynostosis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008217 name: Hemorrhage def: "Bleeding or escape of blood from a vessel." [MESH:D006470] synonym: "Bleeding" EXACT [] synonym: "Hemorrhages" EXACT [] xref: MESH:D006470 xref: RDO:0004420 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9008218 name: Carey-Fineman-Ziter Syndrome 1 def: "A multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. Caused by homozygous or compound heterozygous mutation in the MYMK gene on chromosome 9q34." [] synonym: "CFZS1" EXACT [] xref: MIM:254940 is_a: DOID:0080194 ! Carey-Fineman-Ziter syndrome created_by: mtutaj creation_date: 2022-07-01T12:18:50Z [Term] id: DOID:9008219 name: Post-Concussion Syndrome def: "The organic and psychogenic disturbances observed after closed head injuries (HEAD INJURIES, CLOSED). Post-concussion syndrome includes subjective physical complaints (i.e. headache, dizziness), cognitive, emotional, and behavioral changes. These disturbances can be chronic, permanent, or late emerging." [MESH:D038223] synonym: "Chronic Post-Concussive Syndrome" EXACT [] synonym: "Chronic Post-Concussive Syndromes" EXACT [] synonym: "Post-Concussion Symptom" EXACT [] synonym: "Post Concussion Symptoms" EXACT [] synonym: "Post-Concussive Symptom" EXACT [] synonym: "Post Concussive Symptoms" EXACT [] synonym: "Post Concussive Syndrome" EXACT [] synonym: "Post-Concussive Syndromes" EXACT [] xref: EFO:1001827 xref: MESH:D038223 is_a: DOID:225 ! syndrome is_a: DOID:9008967 ! Brain Concussion [Term] id: DOID:9008220 name: Retrobulbar Hemorrhage def: "Hemorrhage within the orbital cavity, posterior to the eyeball." [MESH:D019315] synonym: "Retrobulbar Hemorrhages" EXACT [] xref: EFO:1001414 xref: MESH:D019315 is_a: DOID:9008217 ! Hemorrhage is_a: DOID:930 ! orbital disease [Term] id: DOID:9008221 name: Medial Coronary Sclerosis of Infancy xref: MESH:C565944 is_a: DOID:182 ! calcinosis is_a: DOID:3393 ! coronary artery disease [Term] id: DOID:9008222 name: Usher Syndrome Type 1M synonym: "USH1M" EXACT [] xref: MIM:618632 is_a: DOID:0110826 ! Usher syndrome type 1 created_by: mtutaj creation_date: 2019-10-23T09:56:41Z [Term] id: DOID:9008223 name: Desmoplastic Cerebral Astrocytoma of Infancy xref: MESH:C535945 is_a: DOID:0050685 ! small cell carcinoma is_a: DOID:3069 ! malignant astrocytoma [Term] id: DOID:9008224 name: Stratton-Parker Syndrome alt_id: MIM:185120 synonym: "Growth Hormone Deficiency with Wormian Bones, Cardiac Anomaly, and Brachycamptodactyly" EXACT [] xref: MESH:C566105 is_a: DOID:10488 ! imperforate anus is_a: DOID:10892 ! hypospadias is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9008225 name: Respirovirus Infections def: "Infections with viruses of the genus RESPIROVIRUS, family PARAMYXOVIRIDAE. Host cell infection occurs by adsorption, via HEMAGGLUTININ, to the cell surface." [MESH:D010253] synonym: "Respirovirus infectious disease" EXACT [] xref: EFO:0007465 xref: MESH:D010253 xref: RDO:0006282 is_a: DOID:9007244 ! Paramyxoviridae Infections [Term] id: DOID:9008227 name: Pregnancy-associated Malaria def: "The co-occurrence of pregnancy and malaria caused by Plasmodium falciparum." [] synonym: "PAM" EXACT [] xref: RDO:9001161 is_a: DOID:14067 ! Plasmodium falciparum malaria is_a: DOID:9003878 ! Parasitic Pregnancy Complications created_by: rgd creation_date: 2016-04-01T00:00:00Z [Term] id: DOID:9008228 name: Forsythe-Wakeling Syndrome synonym: "FWS" EXACT [] synonym: "MICROCEPHALY AND GROWTH RETARDATION WITH CHILDHOOD-ONSET NEPHROTIC SYNDROME AND THROMBOCYTOPENIA" EXACT [] xref: MIM:613606 is_a: DOID:10907 ! microcephaly is_a: DOID:1588 ! thrombocytopenia is_a: DOID:225 ! syndrome is_a: DOID:2527 ! nephrosis is_a: DOID:2962 ! Cockayne syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9008229 name: Recurrent Myoglobinuria alt_id: MIM:550500 xref: MESH:C564018 is_a: DOID:0080108 ! myoglobinuria [Term] id: DOID:9008230 name: Lymphatic Malformation 13 def: "A disease characterized by the presence of nonimmune hydrops fetalis which often resolves with age. Caused by homozygous mutation in the THSD1 gene on chromosome 13q14." [MIM:620244] synonym: "HYDROPS FETALIS, NONIMMUNE, WITH CARDIAC DEFECTS AND HEMANGIOMAS" EXACT [] synonym: "LMPHM13" EXACT [] xref: MIM:620244 is_a: DOID:0050580 ! hereditary lymphedema is_a: DOID:9008386 ! Hydrops Fetalis created_by: mtutaj creation_date: 2023-02-13T08:15:16Z [Term] id: DOID:9008231 name: Nutritional and Metabolic Diseases def: "A collective term for nutritional disorders resulting from poor absorption or nutritional imbalance, and metabolic disorders resulting from defects in biosynthesis (ANABOLISM) or breakdown (CATABOLISM) of endogenous substances." [MESH:D009750] subset: RGD_JBrowse_slim xref: MESH:D009750 is_a: DOID:4 ! disease [Term] id: DOID:9008232 name: Neutrophilia def: "A transient increase in the number of neutrophils in a body fluid" [] synonym: "neutrophilic leukocytosis" EXACT [] is_a: DOID:9001039 ! Leukocytosis created_by: rgd creation_date: 2015-05-29T00:00:00Z [Term] id: DOID:9008233 name: Spondylocostal Dysostosis with Anal Atresia and Urogenital Anomalies alt_id: MIM:271520 synonym: "Casamassima-Morton-Nance Syndrome" EXACT [] synonym: "CMN Syndrome" EXACT [] xref: MESH:C564799 is_a: DOID:0050568 ! spondylocostal dysostosis is_a: DOID:10488 ! imperforate anus is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9008234 name: Distal Arthrogryposis Type 12 def: "A disease characterized by congenital contractures, primarily affecting the small joints of the fingers and toes. Caused by homozygous mutation in the ADAMTS15 gene on chromosome 11q25." [MIM:620545] synonym: "DA12" EXACT [] xref: MIM:620545 is_a: DOID:0050646 ! distal arthrogryposis created_by: tutajm creation_date: 2023-10-24T13:35:49Z [Term] id: DOID:9008235 name: Tyrosinosis xref: MESH:C562659 xref: MIM:276800 xref: MONDO:0010163 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9008236 name: Ritscher-Schinzel Syndrome 3 synonym: "RTSC3" EXACT [] xref: MIM:619135 xref: MONDO:0030864 is_a: DOID:0060565 ! Ritscher-Schinzel syndrome created_by: mtutaj creation_date: 2021-01-04T16:28:49Z [Term] id: DOID:9008237 name: Hemimegalencephaly def: "Rare MALFORMATIONS OF CORTICAL DEVELOPMENT, GROUP I characterized by the enlargement of one side of the brain. It is associated with seizures, partial paralysis, and mental retardation." [MESH:D065705] synonym: "hemimegalencephalies" EXACT [] synonym: "Unilateral Macrocephalies" EXACT [] synonym: "Unilateral Macrocephaly" EXACT [] synonym: "Unilateral Megalencephalies" EXACT [] synonym: "unilateral megalencephaly" EXACT [] xref: MESH:D065705 xref: NCI:C177779 is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9008238 name: Dincsoy Salih Patel Syndrome alt_id: MIM:601016 synonym: "Dincsoy syndrome" EXACT [] synonym: "multiple midline malformations with limb abnormalities and hypopituitarism" EXACT [] xref: MESH:C536177 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:9008239 name: Preeclampsia/Eclampsia 4 alt_id: MIM:609404 synonym: "PEE4" EXACT [] xref: MESH:C563724 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:9008240 name: Disorganized Schizophrenia def: "A type of schizophrenia characterized by frequent incoherence; marked loosening of associations, or grossly disorganized behavior and flat or grossly inappropriate affect that does not meet the criteria for the catatonic type; associated features include extreme social withdrawal, grimacing, mannerisms, mirror gazing, inappropriate giggling, and other odd behavior. (Dorland, 27th ed)" [MESH:D012562] synonym: "Disorganized Schizophrenias" EXACT [] synonym: "Hebephrenic Schizophrenia" EXACT [] synonym: "Hebephrenic Schizophrenias" EXACT [] xref: MESH:D012562 is_a: DOID:5419 ! schizophrenia [Term] id: DOID:9008242 name: Pachyonychia Congenita 1 synonym: "Jadassohn-Lewandowski Syndrome (Pc-1)" EXACT [] synonym: "Jadassohn-Lewandowsky Syndrome" EXACT [] synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" EXACT [] synonym: "Pachyonychia Congenita Tarda, Type 1" EXACT [] synonym: "Pachyonychia Congenita Type 1" EXACT [] synonym: "PC1" EXACT [] xref: MIM:167200 is_a: DOID:0050449 ! pachyonychia congenita created_by: mtutaj creation_date: 2019-03-26T12:29:05Z [Term] id: DOID:9008243 name: Pyruvate Dehydrogenase E2 Deficiency alt_id: MIM:245348 def: "Pyruvate dehydrogenase E2 deficiency is caused by homozygous mutation in the DLAT gene on chromosome 11q23. (OMIM)" [] synonym: "Dihydrolipoyl transacetylase" EXACT [] synonym: "Lactic Acidemia due to Defect of E2 Lipoyl Transacetylase of the Pyruvate Dehydrogenase Complex" EXACT [] synonym: "PDHDD" EXACT [] xref: MESH:C565448 is_a: DOID:3649 ! pyruvate decarboxylase deficiency is_a: DOID:3650 ! lactic acidosis [Term] id: DOID:9008244 name: Delta-Thalassemia def: "A hereditary disorder characterized by reduced or absent DELTA-GLOBIN thus effecting the level of HEMOGLOBIN A2, a minor component of adult hemoglobin monitored in the diagnosis of BETA-THALASSEMIA." [MESH:D055538] synonym: "Delta-0-Thalassemia" EXACT [] synonym: "delta-Thalassemias" EXACT [] synonym: "DELTA-ZERO-THALASSEMIA, KNOSSOS TYPE" NARROW [] synonym: "HEMOGLOBIN A(2) GROVETOWN" RELATED [] synonym: "HEMOGLOBIN A(2) YIALOUSA" RELATED [] xref: MESH:D055538 is_a: DOID:10241 ! thalassemia [Term] id: DOID:9008245 name: Conjunctival Neoplasms def: "Tumors or cancer of the CONJUNCTIVA." [MESH:D003230] synonym: "Conjunctival Neoplasm" EXACT [] xref: MESH:D003230 is_a: DOID:4251 ! conjunctival disease is_a: DOID:9004059 ! Eye Neoplasms [Term] id: DOID:9008246 name: Papulosquamous Skin Diseases alt_id: RDO:0006291 def: "A group of dermatoses with distinct morphologic features. The primary lesion is most commonly a papule, usually erythematous, with a variable degree of scaling on the surface. Plaques form through the coalescing of primary lesions." [MESH:D017444] synonym: "Papulosquamous Disorder" EXACT [] synonym: "Papulosquamous Disorders" EXACT [] synonym: "Papulosquamous Skin Disease" EXACT [] xref: MESH:D017444 is_a: DOID:37 ! skin disease [Term] id: DOID:9008247 name: Pfeiffer Kapferer Syndrome synonym: "Short stature, mental retardation and multiple dysmorphisms" EXACT [] xref: MESH:C537887 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008248 name: Congenital Facial Palsy with Ptosis and Velopharyngeal Dysfunction synonym: "FPVEPD" EXACT [] xref: MIM:617732 is_a: DOID:13934 ! facial paralysis created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:9008249 name: Bifid or Double Ureter alt_id: MIM:191550 xref: MESH:C566012 is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9008250 name: Leukoencephalopathy with Ataxia synonym: "LKPAT" EXACT [] xref: MIM:615651 xref: NCI:C171603 xref: RDO:9001025 is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9008251 name: Toothache def: "Pain in the adjacent areas of the teeth." [MESH:D014098] synonym: "odontalgia" EXACT [] synonym: "odontalgias" EXACT [] synonym: "toothaches" EXACT [] xref: EFO:0010072 xref: MESH:D014098 is_a: DOID:1091 ! tooth disease is_a: DOID:9003932 ! Facial Pain [Term] id: DOID:9008254 name: Granulomatous Disease with Defect in Neutrophil Chemotaxis xref: MESH:C565534 is_a: DOID:3265 ! chronic granulomatous disease [Term] id: DOID:9008255 name: Cognitive Impairment with or Without Cerebellar Ataxia def: "Cognitive impairment with or without cerebellar ataxia is caused by heterozygous mutation in the SCN8A gene on chromosome 12q13. (OMIM)" [] synonym: "CIAT" EXACT [] synonym: "COGNITIVE IMPAIRMENT WITHOUT CEREBELLAR ATAXIA" NARROW [] xref: MIM:614306 is_a: DOID:1561 ! cognitive disorder [Term] id: DOID:9008256 name: Kallikrein Hypertension synonym: "Kallikrein attenuated hypertension" EXACT [] xref: MESH:C537707 is_a: DOID:10763 ! hypertension [Term] id: DOID:9008257 name: Multiple Polyps and Recurrent Inflammatory Fibroid, Gastrointestinal alt_id: MIM:175510 synonym: "Gastrointestinal stromal tumor/GIST-plus syndrome, somatic or familial" EXACT [] synonym: "GIST-plus syndrome" EXACT [] synonym: "GISTPS" EXACT [] xref: EFO:0010279 xref: MESH:C566774 is_a: DOID:0050871 ! fibroma is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:9008258 name: Bovine Mastitis def: "INFLAMMATION of the UDDER in cows." [MESH:D008414] synonym: "Bovine Mastitides" EXACT [] xref: EFO:1001765 xref: MESH:D008414 is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:9008259 name: Atypical Interstitial Pneumonia of Cattle def: "A cattle disease of uncertain cause, probably an allergic reaction." [MESH:D011016] synonym: "Bovine Pulmonary Adenomatoses" EXACT [] synonym: "Bovine Pulmonary Adenomatosis" EXACT [] synonym: "Emphysema, Acute Bovine Pulmonary" EXACT [] synonym: "Fog Fever" EXACT [] xref: MESH:D011016 is_a: DOID:9006345 ! Bovine Respiratory Disease Complex [Term] id: DOID:9008260 name: Multiple Epiphyseal Dysplasia with Miniepiphyses alt_id: MIM:609325 xref: MESH:C563735 is_a: DOID:12721 ! multiple epiphyseal dysplasia [Term] id: DOID:9008261 name: Chemically-Induced Disorders def: "Disorders caused by the intentional or unintentional ingestion or exposure to chemical substances such as PHARMACEUTICAL PREPARATIONS; NOXAE; and PESTICIDES." [MESH:D064419] subset: RGD_JBrowse_slim synonym: "Chemically-Induced Disorder" EXACT [] synonym: "trichloroethylene-induced hypersensitivity" NARROW [] xref: EFO:0007685 xref: MESH:D064419 xref: RDO:0015820 is_a: DOID:4 ! disease [Term] id: DOID:9008262 name: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED def: "A disease in which patients present at birth with AMC and joint contractures, including clenched hands, overlapping digits, ulnar or radial deviation of the hands, metacarpophalangeal contractures, flexion contractures of the wrists, elbows, and knees, hip contractures, rocker bottom feet, clubfeet, Achilles tendon contractures, narrow chest with limited shoulder movements, and progressive kyphosis or scoliosis." [MIM:301041] synonym: "female-restricted Wieacker-Wolff syndrome" EXACT [] synonym: "WRWFFR" EXACT [] xref: MIM:301041 xref: NCI:C198578 is_a: DOID:0060815 ! Miles-Carpenter syndrome created_by: slaulede creation_date: 2020-08-20T16:43:25Z [Term] id: DOID:9008263 name: Paroxysmal Nocturnal Hemoglobinuria 2 synonym: "PAROXYSMAL NOCTURNAL HEMOGLOBINURIA 2, SUSCEPTIBILITY TO" RELATED [] synonym: "PIGT-RELATED DISORDER" BROAD [] synonym: "PNH2" EXACT [] xref: MIM:615399 is_a: DOID:0060284 ! paroxysmal nocturnal hemoglobinuria [Term] id: DOID:9008264 name: Uhl Anomaly synonym: "Parchment right ventricle" EXACT [] synonym: "Uhl's anomaly" EXACT [] xref: MESH:C536932 is_a: DOID:12930 ! dilated cardiomyopathy is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9008266 name: Neuhauser Syndrome synonym: "Cerebral palsy-hypotonic seizures-megalcornea syndrome" EXACT [] synonym: "megalocornea-intellectual disability syndrome" EXACT [] synonym: "Megalocornea-macrocephaly-mental and motor retardation (MMMM) syndrome" EXACT [] synonym: "Megalocornea mental retardation syndrome" EXACT [] synonym: "MMR syndrome" EXACT [] synonym: "Neuhäuser syndrome" EXACT [] synonym: "Seizures-hypotonic cerebral palsy-megalocornea-mental retardation syndrome" EXACT [] xref: GARD:3448 xref: MESH:C536143 xref: MIM:249310 xref: MONDO:0009577 xref: ORDO:2479 is_a: DOID:10124 ! corneal disease is_a: DOID:1059 ! intellectual disability is_a: DOID:1969 ! cerebral palsy is_a: DOID:225 ! syndrome is_a: DOID:9003816 ! Macrocephaly [Term] id: DOID:9008267 name: Fibrous Dysplasia of Bone def: "A disease of bone marked by thinning of the cortex by fibrous tissue containing bony spicules, producing pain, disability, and gradually increasing deformity. Only one bone may be involved (FIBROUS DYSPLASIA, MONOSTOTIC) or several (FIBROUS DYSPLASIA, POLYOSTOTIC)." [MESH:D005357] synonym: "Bone Fibrous Dysplasia" EXACT [] synonym: "Bone Fibrous Dysplasias" EXACT [] synonym: "Osteitis Fibrosa Disseminata" EXACT [] xref: MESH:D005357 is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9008268 name: Enuresis def: "Involuntary discharge of URINE after expected age of completed development of urinary control. This can happen during the daytime (DIURNAL ENURESIS) while one is awake or during sleep (NOCTURNAL ENURESIS). Enuresis can be in children or in adults (as persistent primary enuresis and secondary adult-onset enuresis)." [MESH:D004775] xref: MESH:D004775 xref: MONDO:0024290 is_a: DOID:9000681 ! Elimination Disorders is_a: DOID:9003919 ! Urination Disorders [Term] id: DOID:9008269 name: Kasznica Carlson Coppedge Syndrome synonym: "Ectrodactyly spina bifida cardiopathy" EXACT [] xref: MESH:C537011 xref: RDO:0002755 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001031 ! Retrognathia is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007921 ! Spina Bifida Cystica [Term] id: DOID:9008270 name: Braddock Carey Syndrome synonym: "Thrombocytopenia Robin Sequence" EXACT [] xref: MESH:C536898 xref: MIM:PS619980 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9008271 name: Sublingual Gland Neoplasms def: "Neoplasms of the sublingual glands." [MESH:D013362] synonym: "Sublingual Gland Neoplasm" EXACT [] xref: EFO:1001430 xref: MESH:D013362 xref: RDO:0006640 is_a: DOID:9003216 ! Salivary Gland Neoplasms [Term] id: DOID:9008272 name: Acid-Labile Subunit Deficiency def: "Associated with severely reduced IGF1 and IGFBP3 concentrations and mild growth retardation. (OMIM)" [] synonym: "ACLSD" EXACT [] synonym: "SHORT STATURE DUE TO PRIMARY ACID-LABILE SUBUNIT DEFICIENCY" EXACT [] xref: MIM:615961 is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9008273 name: Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia alt_id: MIM:608809 synonym: "Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinema" EXACT [] xref: MESH:C535888 xref: MESH:C563852 is_a: DOID:0060180 ! colitis is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:848 ! arthritis is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008274 name: Bethlem Myopathy 1C def: "A congenital muscular dystrophy characterized by distal joint laxity and a combination of distal and proximal joint contractures. Caused by heterozygous mutation in the COL6A3 gene on chromosome 2q37." [MIM:620726] synonym: "BTHLM1C" EXACT [] xref: MIM:620726 xref: MONDO:0958234 is_a: DOID:0050663 ! Bethlem myopathy created_by: tutajm creation_date: 2024-03-18T10:51:27Z [Term] id: DOID:9008275 name: Oroacral Syndrome, Verloes-Koulischer Type alt_id: MIM:603446 xref: MESH:C566374 is_a: DOID:9001487 ! Facies is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9008276 name: Juvenile Pauciarticular Chronic Arthritis alt_id: RDO:0001841 synonym: "oligoarticular juvenile idiopathic arthritis" EXACT [] synonym: "Pauciarticular chronic arthritis" EXACT [] synonym: "Pauciarticular Juvenile Rheumatoid Arthritis" EXACT [] xref: EFO:0003114 xref: EFO:1002019 xref: MESH:C536312 is_a: DOID:676 ! juvenile rheumatoid arthritis [Term] id: DOID:9008277 name: Short Limb Dwarf Lethal Colavita Kozlowski Type synonym: "Colavita Kozlowski syndrome" EXACT [] xref: MESH:C537597 xref: RDO:0003468 is_a: DOID:13481 ! thanatophoric dysplasia [Term] id: DOID:9008278 name: Preeclampsia/Eclampsia 3 alt_id: MIM:609403 synonym: "PEE3" EXACT [] xref: MESH:C563725 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:9008279 name: Progressive Familial Intrahepatic Cholestasis 11 def: "A progressive familial intrahepatic cholestasis caused by homozygous mutation in the SEMA7A gene on chromosome 15q24." [MIM:619874] synonym: "PFIC11" EXACT [] xref: MIM:619874 xref: MONDO:0030815 is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis created_by: mtutaj creation_date: 2022-05-11T16:29:15Z [Term] id: DOID:9008280 name: Holoprosencephaly 10 synonym: "Holoprosencephaly with Microphthalmia and First Branchial Arch Anomalies" EXACT [] xref: MESH:C567278 is_a: DOID:0060412 ! chromosome 1q41-q42 deletion syndrome is_a: DOID:10629 ! microphthalmia is_a: DOID:4621 ! holoprosencephaly is_a: DOID:9001487 ! Facies [Term] id: DOID:9008281 name: Factor XIII, B Subunit, Deficiency Of xref: MESH:C567688 xref: MIM:613235 xref: MONDO:0013190 is_a: DOID:2211 ! factor XIII deficiency [Term] id: DOID:9008282 name: Diastolic Hypertension, Resistance to alt_id: MIM:608622 alt_id: RDO:0013032 xref: MESH:C563897 is_a: DOID:10763 ! hypertension [Term] id: DOID:9008283 name: Selective Tooth Agenesis 7 synonym: "LRP6-RELATED CONDITION" BROAD [] synonym: "STHAG7" EXACT [] xref: MIM:616724 is_a: DOID:0050591 ! tooth agenesis [Term] id: DOID:9008284 name: Winter Harding Hyde Syndrome synonym: "Pachygyria joint contractures facial abnormalities" EXACT [] xref: MESH:C536712 is_a: DOID:0050453 ! lissencephaly is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9006836 ! Contracture is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008285 name: Leriche Syndrome def: "A condition caused by occlusion of terminal aorta, the primary branches of the ABDOMINAL AORTA, as in aortoiliac obstruction. Leriche syndrome usually occurs in males and is characterized by IMPOTENCE, absence of a pulse in the femoral arteries, weakness and numbness in the lower back, buttocks, hips, and lower limbs." [MESH:D007925] synonym: "Leriche's Syndrome" EXACT [] synonym: "Leriches Syndrome" EXACT [] xref: MESH:D007925 xref: RDO:0005981 is_a: DOID:225 ! syndrome is_a: DOID:520 ! aortic disease is_a: DOID:9006474 ! Arterial Occlusive Diseases [Term] id: DOID:9008286 name: Experimental Autoimmune Myasthenia Gravis alt_id: RDO:0007422 def: "Any autoimmune animal disease model used in the study of MYASTHENIA GRAVIS. Injection with purified neuromuscular junction acetylcholine receptor (AChR) (see RECEPTORS, CHOLINERGIC) components results in a myasthenic syndrome that has acute and chronic phases. The motor endplate pathology, loss of acetylcholine receptors, presence of circulating anti-AChR antibodies, and electrophysiologic changes make this condition virtually identical to human myasthenia gravis. Passive transfer of AChR antibodies or lymphocytes from afflicted animals to normals induces passive transfer experimental autoimmune myasthenia gravis. (From Joynt, Clinical Neurology, 1997, Ch 54, p3)" [MESH:D020720] synonym: "EAMG" EXACT [] synonym: "Experimental Myasthenia" EXACT [] synonym: "Experimental Myasthenia Gravis" EXACT [] synonym: "Experimental Myasthenias" EXACT [] synonym: "Passive Transfer Experimental Autoimmune Myasthenia Gravis" EXACT [] xref: MESH:D020720 is_a: DOID:437 ! myasthenia gravis is_a: DOID:9000990 ! Experimental Nervous System Autoimmune Disease [Term] id: DOID:9008287 name: Gomez Lopez Hernandez Syndrome synonym: "cerebello-trigeminal-dermal dysplasia" EXACT [] synonym: "cerebellotrigeminal dermal dysplasia" EXACT [] synonym: "GLHS" EXACT [] synonym: "GLH Syndrome" EXACT [] synonym: "Gómez-López-Hernández syndrome" EXACT [] xref: MESH:C537285 xref: MIM:601853 xref: MONDO:0011157 is_a: DOID:9001734 ! Neurocutaneous Syndromes is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:987 ! alopecia [Term] id: DOID:9008288 name: Visceral Heterotaxy 5, Autosomal synonym: "HTX5" EXACT [] synonym: "NODAL-related disorder" RELATED [] synonym: "NODAL-related disorders" RELATED [] synonym: "situs invertus viscerum" BROAD [] synonym: "SIV" EXACT [] xref: MIM:270100 is_a: DOID:0050545 ! visceral heterotaxy is_a: DOID:758 ! situs inversus [Term] id: DOID:9008289 name: Tiglic Acidemia alt_id: MIM:275190 synonym: "Disorder of isoleucine metabolism" EXACT [] xref: MESH:C536921 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9008290 name: Knee Injuries def: "Injuries to the knee or the knee joint." [MESH:D007718] synonym: "Knee Injury" EXACT [] xref: EFO:0009507 xref: MESH:D007718 is_a: DOID:9008911 ! Leg Injuries [Term] id: DOID:9008291 name: Herpetic Stomatitis def: "Stomatitis caused by Herpesvirus hominis. It usually occurs as acute herpetic stomatitis (or gingivostomatitis), an oral manifestation of primary herpes simplex seen primarily in children and adolescents." [MESH:D013283] synonym: "Herpetic Gingivostomatitides" EXACT [] synonym: "Herpetic Gingivostomatitis" EXACT [] synonym: "Herpetic Stomatitides" EXACT [] synonym: "Oral Herpes Simplex" EXACT [] xref: EFO:0007307 xref: MESH:D013283 is_a: DOID:8566 ! herpes simplex is_a: DOID:9637 ! stomatitis [Term] id: DOID:9008292 name: Dystonia with Cerebellar Atrophy alt_id: MIM:611694 synonym: "DYTCA" EXACT [] xref: MESH:C567131 is_a: DOID:2786 ! cerebellar disease is_a: DOID:543 ! dystonia [Term] id: DOID:9008295 name: Microphthalmia with Hyperopia, Retinal Degeneration, Macrophakia, and Dental Anomalies alt_id: MIM:251700 xref: MESH:C566884 is_a: DOID:10629 ! microphthalmia is_a: DOID:8466 ! retinal degeneration is_a: DOID:9834 ! hyperopia [Term] id: DOID:9008296 name: Eye Abnormalities def: "Congenital absence of or defects in structures of the eye; may also be hereditary." [MESH:D005124] synonym: "ABNORMAL ANTERIOR EYE SEGMENT MORPHOLOGY" NARROW [] synonym: "ABNORMALITY OF THE EYE" EXACT [] synonym: "eye abnormality" EXACT [] synonym: "OCULAR ANOMALIES" EXACT [] xref: HP:0004328 xref: MESH:D005124 xref: MP:0005193 is_a: DOID:5614 ! eye disease is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9008297 name: Motor Disorders def: "Motor skills deficits that significantly and persistently interfere with ACTIVITIES OF DAILY LIVING appropriate to chronological age. (from DSM-V)" [MESH:D000068079] xref: MESH:D000068079 is_a: DOID:150 ! disease of mental health [Term] id: DOID:9008298 name: Pulmonary Atresia with Ventricular Septal Defect alt_id: MIM:178370 xref: MESH:C562833 is_a: DOID:1681 ! heart septal defect is_a: DOID:9007098 ! Pulmonary Atresia [Term] id: DOID:9008299 name: Mediastinal Neoplasms def: "Tumors or cancer of the MEDIASTINUM." [MESH:D008479] synonym: "Mediastinal Neoplasm" EXACT [] synonym: "Mediastinum Neoplasm" EXACT [] synonym: "Mediastinum Neoplasms" EXACT [] xref: MESH:D008479 is_a: DOID:9007003 ! Mediastinal Diseases is_a: DOID:9007920 ! Thoracic Neoplasms [Term] id: DOID:9008300 name: Nephrotic Syndrome with Ocular Anomalies synonym: "familial infantile nephrotic syndrome with ocular abnormalities" EXACT [] synonym: "Glastre Cochat Bouvier syndrome" EXACT [] synonym: "nephrotic syndrome ocular anomalies" EXACT [] xref: MESH:C536403 is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9008301 name: Pseudo-Zellweger Syndrome synonym: "Pseudo Zellweger syndrome leukodystrophy" EXACT [] xref: MESH:C535818 is_a: DOID:225 ! syndrome is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:9008302 name: Hereditary Vertical Nystagmus alt_id: MIM:164150 synonym: "Congenital hereditary vertical nystagmus" EXACT [] xref: MESH:C537857 is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:9008303 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES alt_id: DOID:9008904 def: "This disease is an autosomal recessive disorder characterized by hypotonia apparent from early infancy, global developmental delay with severely impaired intellectual development, and early-onset seizures. Heterozygous mutation carriers show a milder neurocognitive disorder with learning disabilities, similar to chromosome 15q13.3 deletion syndrome." [MIM:620790] synonym: "NEDHS" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES" EXACT [] xref: MIM:620790 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulederkind creation_date: 2024-05-28T12:20:03Z [Term] id: DOID:9008304 name: Familial Multiple Coagulation Factor Deficiency V alt_id: MIM:134520 synonym: "Factors VIII, IX and XI, Combined Deficiency of" EXACT [] synonym: "FMFD V" EXACT [] synonym: "MCFD5" EXACT [] synonym: "Multiple Coagulation Factor Deficiency V" EXACT [] xref: MESH:C565023 is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:9008305 name: Talipes Cavus def: "A foot deformity in which the arch of the foot is high and often the heel adducted." [MESH:D000070589] synonym: "Cavovarus Foot Deformities" EXACT [] synonym: "Cavovarus Foot Deformity" EXACT [] synonym: "Cavus Deformities" EXACT [] synonym: "Cavus Deformity" EXACT [] synonym: "Cavus Foot" EXACT [] synonym: "High Arched Foot" EXACT [] synonym: "Pes Cavus" EXACT [] xref: MESH:D000070589 is_a: DOID:9007152 ! Talipes [Term] id: DOID:9008306 name: Common Ventricle alt_id: RDO:9001096 def: "Rare congenital heart malformation with a single ventricle (HEART VENTRICLES) instead of the usual two." [MESH:D000080039] synonym: "Absence of Interventricular Septum" EXACT [] synonym: "Single Ventricle" EXACT [] synonym: "Univentricular Heart" EXACT [] xref: MESH:D000080039 is_a: DOID:1657 ! ventricular septal defect [Term] id: DOID:9008307 name: Slti Salem Syndrome synonym: "Hypogonadism and frontoparietal alopecia" EXACT [] synonym: "Hypogonadotropic hypogonadism alopecia" EXACT [] xref: MESH:C536673 is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:987 ! alopecia [Term] id: DOID:9008308 name: Poor Drug Metabolism, CYP2C19-Related alt_id: MIM:609535 synonym: "CLOPIDOGREL, POOR METABOLISM OF" NARROW [] synonym: "CYP2C19: DECREASED FUNCTION" NARROW [] synonym: "CYP2C19: NO FUNCTION" NARROW [] synonym: "CYP2C19: UNCERTAIN FUNCTION" NARROW [] synonym: "MEPHENYTOIN, POOR METABOLISM OF" NARROW [] synonym: "OMEPRAZOLE, POOR METABOLISM OF" NARROW [] synonym: "poor metabolism of proguanil" NARROW [] xref: MESH:C563703 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9008309 name: Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia xref: MESH:C563617 xref: RDO:0012830 is_a: DOID:9007571 ! Hyperlipoproteinemias [Term] id: DOID:9008311 name: Agammaglobulinemia, Non-Bruton Type, Autosomal Recessive synonym: "Agammaglobulinemia due to early proB cell defect" EXACT [] xref: MESH:C538056 is_a: DOID:2583 ! agammaglobulinemia [Term] id: DOID:9008312 name: Rombo Syndrome alt_id: MIM:180730 xref: MESH:C535870 is_a: DOID:225 ! syndrome is_a: DOID:2513 ! basal cell carcinoma is_a: DOID:3134 ! facial dermatosis is_a: DOID:4535 ! hypotrichosis is_a: DOID:9000781 ! Cyanosis is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9008313 name: Febrile Neutropenia def: "Fever accompanied by a significant reduction in the number of NEUTROPHILS." [MESH:D064147] synonym: "Febrile Neutropenias" EXACT [] xref: MESH:D064147 is_a: DOID:1227 ! neutropenia [Term] id: DOID:9008314 name: Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant alt_id: MIM:605827 synonym: "GBFHS" EXACT [] xref: MESH:C565284 is_a: DOID:9007168 ! Genetic Skin Diseases is_a: DOID:9007253 ! Hamartoma [Term] id: DOID:9008315 name: Dilated Cardiomyopathy 2H def: "An autosomal recessive disorder characterized by rapidly progressive dilated cardiomyopathy and death in early infancy. Caused by compound heterozygous mutation in the GET3 gene on chromosome 19p13." [MIM:620203] synonym: "CMD2H" EXACT [] xref: MIM:620203 is_a: DOID:12930 ! dilated cardiomyopathy created_by: mtutaj creation_date: 2023-01-18T10:25:30Z [Term] id: DOID:9008316 name: Microphthalmia/Coloboma 1 synonym: "colobomatous microphthalmia-1" EXACT [] synonym: "isolated colobomatous microphthalmia 1" EXACT [] synonym: "isolated microphthalmia with coloboma 1" EXACT [] synonym: "MCOPCB1" EXACT [] xref: MESH:C564531 xref: MIM:300345 xref: MONDO:0024549 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma [Term] id: DOID:9008318 name: Ectrodactyly Cardiopathy Dysmorphism synonym: "Ectrodactyly of lower limbs, congenital heart defect and characteristic facies" EXACT [] synonym: "Van Den Ende Brunner syndrome" EXACT [] xref: MESH:C536187 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9007794 ! Lower Extremity Deformities, Congenital [Term] id: DOID:9008319 name: Purpura Simplex alt_id: MIM:179000 synonym: "Hereditary familial purpura simplex" EXACT [] xref: MESH:C536249 is_a: DOID:3326 ! purpura [Term] id: DOID:9008320 name: Craniosynostosis with Fibular Aplasia alt_id: MIM:218550 xref: MESH:C565665 is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9008321 name: Osteoradionecrosis def: "Necrosis of bone following radiation injury." [MESH:D010025] synonym: "Osteoradionecroses" EXACT [] xref: EFO:1001821 xref: MESH:D010025 is_a: DOID:9000111 ! Radiation Injuries [Term] id: DOID:9008323 name: Epilepsy Telangiectasia alt_id: MIM:226850 xref: MESH:C535497 is_a: DOID:1059 ! intellectual disability is_a: DOID:11702 ! dysgammaglobulinemia is_a: DOID:1272 ! telangiectasis is_a: DOID:1826 ! epilepsy [Term] id: DOID:9008324 name: Congenital Indifference to Pain, Autosomal Recessive alt_id: MIM:243000 synonym: "Asymbolia for Pain" EXACT [] synonym: "CIP" EXACT [] synonym: "Congenital Analgesia, Autosomal Recessive" EXACT [] synonym: "hereditary sensory and autonomic neuropathy type IID" NARROW [] synonym: "HSAN2D" NARROW [] xref: MESH:C565467 is_a: DOID:0070161 ! hereditary sensory and autonomic neuropathy type 2 is_a: DOID:9003516 ! Channelopathies is_a: DOID:9008482 ! Congenital Pain Insensitivity [Term] id: DOID:9008325 name: Arthrogryposis Multiplex with Deafness, Inguinal Hernias, and Early Death alt_id: MIM:610001 xref: MESH:C535381 is_a: DOID:0060320 ! inguinal hernia is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:9008681 ! Deafness [Term] id: DOID:9008326 name: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE DELAY AND VARIABLE COGNITIVE ABNORMALITIES def: "This disease is a phenotypically heterogeneous neurologic disorder. Affected individuals may show early motor delay, speech and language delay, impaired intellectual development, learning disabilities, and/or behavioral abnormalities, although the severity and manifestations vary widely. Repetitive behavior and sleep difficulties are commonly present." [MIM:620502] synonym: "NEDLC" EXACT [] xref: MIM:620502 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders created_by: slaulederkind creation_date: 2024-06-14T11:02:52Z [Term] id: DOID:9008327 name: Bone Cysts def: "Benign unilocular lytic areas in the proximal end of a long bone with well defined and narrow endosteal margins. The cysts contain fluid and the cyst walls may contain some giant cells. Bone cysts usually occur in males between the ages 3-15 years." [MESH:D001845] synonym: "Bone Cyst" EXACT [] synonym: "Intra Osseous Ganglia" EXACT [] synonym: "Intraosseous Ganglia" EXACT [] synonym: "Intra-Osseous Ganglias" EXACT [] synonym: "Intraosseous Ganglias" EXACT [] synonym: "Intra Osseous Ganglion" EXACT [] synonym: "Intraosseous Ganglion" EXACT [] synonym: "Intra-Osseous Ganglions" EXACT [] synonym: "Intraosseous Ganglions" EXACT [] synonym: "Solitary Cyst" EXACT [] synonym: "Solitary Cysts" EXACT [] synonym: "Subchondral Cyst" EXACT [] synonym: "Subchondral Cysts" EXACT [] xref: MESH:D001845 xref: RDO:0001863 is_a: DOID:0080001 ! bone disease is_a: DOID:9007583 ! Cysts [Term] id: DOID:9008328 name: Familial Osteoma of Cranial Vault alt_id: MIM:603600 xref: MESH:C566356 is_a: DOID:9001331 ! Skull Neoplasms is_a: DOID:9004412 ! Osteoma [Term] id: DOID:9008330 name: Serrated Polyposis synonym: "Colon Serrated Polyposis" EXACT [] synonym: "Serrated polyp of colon" EXACT [] synonym: "Serrated Polyposis Syndrome" RELATED [] is_a: DOID:6225 ! Cronkhite-Canada syndrome created_by: rgd creation_date: 2015-06-17T00:00:00Z [Term] id: DOID:9008331 name: Tendon Injuries def: "Injuries to the fibrous cords of connective tissue which attach muscles to bones or other structures." [MESH:D013708] synonym: "Achilles tendon injury" NARROW [] synonym: "Tendon Injury" EXACT [] xref: EFO:0600078 xref: MESH:D013708 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9008332 name: Palmoplantar Keratoderma, Spastic Paralysis synonym: "Axonal neuropathy with palmoplantar keratoderma" EXACT [] synonym: "Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy" EXACT [] synonym: "palmoplantar hyperkeratosis-spastic paralysis syndrome" EXACT [] synonym: "palmoplantar keratoderma with nail dystrophy and hereditary motor-sensory neuropathy" EXACT [] synonym: "Powell-Venencie-Gordon syndrome" EXACT [] xref: GARD:3095 xref: MESH:C536153 xref: MIM:148360 xref: MONDO:0016353 xref: ORDO:2201 is_a: DOID:10595 ! Charcot-Marie-Tooth disease is_a: DOID:3390 ! palmoplantar keratosis is_a: DOID:4123 ! nail disease [Term] id: DOID:9008333 name: Vertebral, Cardiac, Renal, and Limb Defects Syndrome 3 synonym: "congenital NAD deficiency disorder 3" EXACT [] synonym: "NADSYN1-RELATED CONDITION" EXACT [] synonym: "VCRL3" EXACT [] xref: MIM:618845 is_a: DOID:9008119 ! Vertebral, Cardiac, Renal, and Limb Defects Syndromes created_by: mtutaj creation_date: 2020-05-07T11:25:15Z [Term] id: DOID:9008334 name: Striatonigral Degeneration, Infantile alt_id: MIM:271930 synonym: "familial striatal degeneration" EXACT [] synonym: "IBSN" EXACT [] synonym: "infantile bilateral striatal necrosis" EXACT [] synonym: "SNDI" EXACT [] xref: MESH:C537500 is_a: DOID:4751 ! striatonigral degeneration [Term] id: DOID:9008335 name: Mesomycetozoea Infections def: "Infections by MESOMYCETOZOEA, general or unspecified." [MESH:D050738] synonym: "Mesomycetozoea Infection" EXACT [] xref: MESH:D050738 is_a: DOID:1398 ! parasitic infectious disease [Term] id: DOID:9008338 name: Split-Foot Malformation with Mesoaxial Polydactyly synonym: "SFMMP" EXACT [] xref: MIM:616890 is_a: DOID:0090020 ! split hand-foot malformation is_a: DOID:1148 ! polydactyly is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9008339 name: Tension-Type Headache def: "A common primary headache disorder, characterized by a dull, non-pulsatile, diffuse, band-like (or vice-like) PAIN of mild to moderate intensity in the HEAD; SCALP; or NECK. The subtypes are classified by frequency and severity of symptoms. There is no clear cause even though it has been associated with MUSCLE CONTRACTION and stress. (International Classification of Headache Disorders, 2nd ed. Cephalalgia 2004: suppl 1)" [MESH:D018781] synonym: "Idiopathic Headache" EXACT [] synonym: "Idiopathic Headaches" EXACT [] synonym: "Psychogenic Headache" EXACT [] synonym: "Psychogenic Headaches" EXACT [] synonym: "Stress Headache" EXACT [] synonym: "Stress Headaches" EXACT [] synonym: "Tension Headache" EXACT [] synonym: "Tension Headaches" EXACT [] synonym: "Tension-Type Headaches" EXACT [] synonym: "Tension Vascular Headache" EXACT [] synonym: "Tension-Vascular Headaches" EXACT [] xref: MESH:D018781 xref: RDO:0007231 is_a: DOID:9001144 ! Primary Headache Disorders [Term] id: DOID:9008340 name: Combined Pituitary Hormone Deficiency 2 synonym: "ateliotic dwarfism with hypogonadism" EXACT [] synonym: "COMBINED PITUITARY HORMONE DEFICIENCY, RECESSIVE" EXACT [] synonym: "COMBINED PITUITARY HORMONE DEFICIENCY TYPE 2" EXACT [] synonym: "CPHD2" EXACT [] synonym: "Hanhart Dwarfism" EXACT [] synonym: "pituitary dwarfism III" EXACT [] xref: MESH:C563172 xref: MIM:262600 xref: MONDO:0009878 is_a: DOID:0060870 ! isolated growth hormone deficiency is_a: DOID:9410 ! panhypopituitarism [Term] id: DOID:9008341 name: SULFIDE:QUINONE OXIDOREDUCTASE DEFICIENCY def: "This is a disease characterized by a variable phenotype ranging from no clinical symptoms (most patients) to episodes of encephalopathy and Leigh syndrome-like (see 256000) brain lesions, with acute symptoms triggered by infections and fasting." [MIM:619221] synonym: "SQORD" EXACT [] xref: MIM:619221 is_a: DOID:655 ! inherited metabolic disorder created_by: slaulede creation_date: 2021-04-16T12:23:33Z [Term] id: DOID:9008342 name: Johnson Munson Syndrome alt_id: MIM:207620 synonym: "Aphalangy of the hands and feet, hemivertebrae, and visceral malformations" EXACT [] synonym: "Aphalangy with Hemivertebrae" EXACT [] xref: MESH:C535881 xref: RDO:0001235 is_a: DOID:225 ! syndrome is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9000545 ! Ectromelia is_a: DOID:9004795 ! Congenital Hand Deformities [Term] id: DOID:9008343 name: Camptodactyly Syndrome Guadalajara Type 3 alt_id: MIM:611929 synonym: "Camptodactyly Syndrome, Guadalajara, Type III" EXACT [] xref: GARD:10573 xref: MESH:C567455 is_a: DOID:0080016 ! spina bifida is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9008935 ! Camptodactyly Syndrome Guadalajara Type [Term] id: DOID:9008344 name: Invasive Breast Carcinoma def: "This is a carcinoma that infiltrates the breast parenchyma. The vast majority are adenocarcinomas arising from the terminal ductal lobular unit (TDLU). Often, the invasive adenocarcinoma co-exists with ductal or lobular carcinoma in situ. It is the most common carcinoma affecting women." [NCI:C9245] synonym: "infiltrating breast cancer" EXACT [] synonym: "infiltrating carcinoma of breast" EXACT [] synonym: "invasive breast cancer" EXACT [] synonym: "invasive carcinoma of the breast" EXACT [] synonym: "invasive mammary carcinoma" EXACT [] xref: EFO:1000307 is_a: DOID:3459 ! breast carcinoma created_by: slaulede creation_date: 2023-02-03T16:49:30Z [Term] id: DOID:9008346 name: SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY def: "An autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features. (OMIM)" [] synonym: "KIDINS220-RELATED CONDITION" BROAD [] synonym: "SINO" EXACT [] xref: MIM:617296 is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:9649 ! congenital nystagmus is_a: DOID:9970 ! obesity created_by: rgd creation_date: 2017-04-06T00:00:00Z [Term] id: DOID:9008348 name: Male Urogenital Diseases def: "Pathological processes of the male URINARY TRACT and the reproductive system (GENITALIA, MALE)." [MESH:D052801] subset: RGD_JBrowse_slim synonym: "Male Genitourinary Disease" EXACT [] synonym: "Male Genitourinary Diseases" EXACT [] synonym: "Male Urogenital Disease" EXACT [] xref: MESH:D052801 is_a: DOID:9009146 ! Urogenital Diseases [Term] id: DOID:9008349 name: NEURODEGENERATION AND SEIZURES DUE TO COPPER TRANSPORT DEFECT def: "This disease is an autosomal recessive disorder of copper transport characterized by hypotonia, global developmental delay, seizures, and rapid brain atrophy." [MIM:620306] synonym: "NSCT" EXACT [] xref: MIM:620306 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:1826 ! epilepsy created_by: slaulede creation_date: 2023-06-20T09:15:41Z [Term] id: DOID:9008350 name: NATURAL KILLER CELL ENTEROPATHY def: "A benign natural killer (NK) cell lymphoproliferative disease with characteristics of minor abdominal symptoms (abdominal pain, diverticulosis, constipation and reflux) due to NK cell-derived lesions in the mucosal layer of the gastrointestinal tract and often mistaken for NK or T-cell lymphoma." [url:https\://www.nlm.nih.gov/healthit/snomedct/us_edition.html] synonym: "NK (natural killer) cell enteropathy" EXACT [] synonym: "NK-cell enteropathy" EXACT [] is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:77 ! gastrointestinal system disease created_by: slaulede creation_date: 2020-01-14T12:52:02Z [Term] id: DOID:9008351 name: Febrile Seizures Associated with Afebrile Seizures xref: MESH:C565813 is_a: DOID:9007956 ! Febrile Seizures [Term] id: DOID:9008353 name: Abnormal Neutrophil Chemotactic Response synonym: "abnormal leukocyte motility" EXACT [] synonym: "abnormal neutrophil migration" EXACT [] synonym: "abnormal neutrophil motility" EXACT [] synonym: "NCR" EXACT [] synonym: "neutrophil chemotactic response" EXACT [] synonym: "neutrophil migration" EXACT [] synonym: "NM" EXACT [] xref: MESH:C563515 is_a: DOID:2914 ! immune system disease is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9008354 name: Secretory Component Deficiency alt_id: MIM:269650 alt_id: RDO:0012403 synonym: "secretory IgA deficiency" EXACT [] xref: MESH:C562869 is_a: DOID:0060025 ! immunoglobulin alpha deficiency [Term] id: DOID:9008355 name: Adrenocortical Hypofunction, Chronic Primary Congenital alt_id: MIM:103230 synonym: "Congenital Addison Disease" EXACT [] xref: MESH:C562711 is_a: DOID:13774 ! Addison's disease is_a: DOID:630 ! genetic disease [Term] id: DOID:9008357 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related" EXACT [] xref: MIM:PS614742 is_a: DOID:3770 ! pulmonary fibrosis is_a: DOID:9007222 ! Bone Marrow Failure Disorders created_by: mtutaj creation_date: 2019-03-19T14:23:29Z [Term] id: DOID:9008358 name: Radioulnar Synostosis Retinal Pigment Abnormalities xref: MESH:C536270 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9827 ! radioulnar synostosis [Term] id: DOID:9008359 name: Acute Pain def: "Intensely discomforting, distressful, or agonizing sensation associated with trauma or disease, with well-defined location, character, and timing." [MESH:D059787] synonym: "Acute Pains" EXACT [] xref: MESH:D059787 is_a: DOID:9000641 ! Pain [Term] id: DOID:9008361 name: Eye Foreign Bodies def: "Inanimate objects that become enclosed in the eye." [MESH:D005129] synonym: "Eye Foreign Body" EXACT [] synonym: "Eye Foreign Object" EXACT [] synonym: "Eye Foreign Objects" EXACT [] xref: EFO:1001322 xref: MESH:D005129 xref: RDO:0005556 is_a: DOID:9003074 ! Foreign Bodies is_a: DOID:9006447 ! Eye Injuries [Term] id: DOID:9008363 name: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT synonym: "GDDI" EXACT [] xref: EFO:0010260 xref: MIM:618330 is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2019-07-09T11:12:04Z [Term] id: DOID:9008364 name: Visceral Heterotaxy 7, Autosomal synonym: "HTX7" EXACT [] synonym: "MMP21-RELATED CONDITION" EXACT [] xref: MIM:616749 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:9008365 name: Pseudoacromegaly with Severe Insulin Resistance alt_id: MIM:602511 xref: MESH:C566531 is_a: DOID:2449 ! acromegaly is_a: DOID:9007692 ! Insulin Resistance [Term] id: DOID:9008366 name: Meningococcal Infections def: "Infections with bacteria of the species NEISSERIA MENINGITIDIS." [MESH:D008589] synonym: "Meningococcal Infection" EXACT [] xref: EFO:0004249 xref: MESH:D008589 xref: RDO:0006108 is_a: DOID:9008538 ! Neisseriaceae Infections [Term] id: DOID:9008368 name: Bird Headed Dwarfism Montreal Type alt_id: MIM:210700 synonym: "Bird-headed dwarfism with features of premature senility" EXACT [] synonym: "MICROCEPHALIC PRIMORDIAL DWARFISM, MONTREAL TYPE" EXACT [] xref: MESH:C535448 is_a: DOID:3911 ! progeria is_a: DOID:421 ! hair disease is_a: DOID:9001682 ! Nose Deformities, Acquired is_a: DOID:9005616 ! Micrognathism is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9008369 name: Pseudomonilethrix alt_id: MIM:177750 synonym: "pseudo-monilethrix" EXACT [] xref: MESH:C562988 is_a: DOID:421 ! hair disease [Term] id: DOID:9008370 name: NEURODEVELOPMENTAL DISORDER WITH ATAXIA, HYPOTONIA, AND MICROCEPHALY def: "An autosomal recessive neurodevelopmental disorder characterized by intellectual disability, microcephaly, ataxia, and muscular hypotonia." [EFO:0010560] synonym: "NEDAHM" EXACT [] xref: EFO:0010560 xref: MIM:618569 is_a: DOID:1059 ! intellectual disability is_a: DOID:10907 ! microcephaly is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9004866 ! Ataxia is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulede creation_date: 2023-01-03T14:10:00Z [Term] id: DOID:9008371 name: Carnitine Acetyltransferase Deficiency alt_id: MIM:606175 xref: MESH:C563249 is_a: DOID:562 ! third cranial nerve disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9000348 ! Confusion is_a: DOID:9004866 ! Ataxia is_a: DOID:9005603 ! Muscle Hypotonia [Term] id: DOID:9008372 name: Cervicofacial Actinomycosis def: "A form of ACTINOMYCOSIS characterized by slow-growing inflammatory lesions of the lymph nodes that drain the mouth (lumpy jaw), reddening of the overlying skin, and intraperitoneal abscesses." [MESH:D000197] synonym: "cervicofacial actinomycoses" EXACT [] xref: EFO:0007203 xref: MESH:D000197 is_a: DOID:8478 ! actinomycosis is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:9008373 name: Conjoined Twins def: "MONOZYGOTIC TWINS who are joined in utero. They may be well developed and share only a superficial connection, often in the frontal, transverse or sagittal body plane, or they may share a partial duplication of a body structure. Alternatively, there may be a small and incompletely developed twin conjoined to a larger, more fully developed twin." [MESH:D014428] synonym: "Conjoined Twin" EXACT [] synonym: "Siamese Twin" EXACT [] synonym: "Siamese Twins" EXACT [] xref: MESH:D014428 is_a: DOID:9004061 ! Abnormalities, Severe Teratoid [Term] id: DOID:9008374 name: Chromosome 9, Duplication 9q21 synonym: "Disomy 9q21" EXACT [] synonym: "Duplication 9q21" EXACT [] xref: MESH:C538023 xref: RDO:0003957 is_a: DOID:9008692 ! Aneuploidy [Term] id: DOID:9008375 name: finger fractures def: "These are traumatic breaks in one or more of the bones in one of the digits of the hand." [NCI:C27072] synonym: "broken finger" EXACT [] synonym: "finger fracture" EXACT [] xref: EFO:0009616 is_a: DOID:9001667 ! Finger Injuries is_a: DOID:9002589 ! Bone Fractures created_by: slaulede creation_date: 2023-02-16T10:31:39Z [Term] id: DOID:9008376 name: Brachydactylous Dwarfism Mseleni Type alt_id: MIM:613342 synonym: "Brachydactylous dwarfs of Mseleni" EXACT [] xref: MESH:C537086 is_a: DOID:381 ! arthropathy is_a: DOID:8398 ! osteoarthritis is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9008377 name: Psychological Trauma def: "Overwhelming emotional damage caused by a distressful event or series of events." [MESH:D000067073] xref: MESH:D000067073 is_a: DOID:6088 ! acute stress disorder [Term] id: DOID:9008378 name: Adipose Tissue Neoplasms alt_id: RDO:0006016 def: "Neoplasms composed of fatty tissue or connective tissue made up of fat cells in a meshwork of areolar tissue. The concept does not refer to neoplasms located in adipose tissue." [MESH:D018205] synonym: "Adipose Tissue Neoplasm" EXACT [] xref: MESH:D018205 is_a: DOID:9008612 ! Connective and Soft Tissue Neoplasms [Term] id: DOID:9008379 name: Say Field Coldwell Syndrome alt_id: MIM:190650 synonym: "Triphalangeal thumbs and dislocation of patella" EXACT [] xref: MESH:C536619 is_a: DOID:225 ! syndrome is_a: DOID:9004266 ! Patellar Dislocation is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008380 name: Radial Ray Deficiency, X-Linked alt_id: MIM:300378 synonym: "RRDX" EXACT [] xref: MESH:C564523 xref: RDO:0013460 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0060770 ! dextro-looped transposition of the great arteries is_a: DOID:1882 ! atrial heart septal defect is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9008381 name: Chronic Brain Damage def: "A condition characterized by long-standing brain dysfunction or damage, usually of three months duration or longer. Potential etiologies include BRAIN INFARCTION; certain NEURODEGENERATIVE DISORDERS; CRANIOCEREBRAL TRAUMA; ANOXIA, BRAIN; ENCEPHALITIS; certain NEUROTOXICITY SYNDROMES; metabolic disorders (see BRAIN DISEASES, METABOLIC); and other conditions." [MESH:D001925] synonym: "Chronic Encephalopathy" EXACT [] xref: MESH:D001925 is_a: DOID:936 ! brain disease [Term] id: DOID:9008382 name: Chromosome 9, Trisomy Mosaic synonym: "Trisomy 9 mosaic" EXACT [] synonym: "Trisomy 9 mosaicism" EXACT [] synonym: "Uniparental disomy of 9" EXACT [] xref: MESH:C535454 xref: RDO:0000574 is_a: DOID:9003960 ! Trisomy is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9008383 name: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 def: "This disease is characterized by a proteasome-associated autoinflammatory syndrome with immunodeficiency." [MIM:620796] synonym: "PRAAS6" EXACT [] xref: MIM:620796 is_a: DOID:0060913 ! proteosome-associated autoinflammatory syndrome created_by: slaulederkind creation_date: 2024-06-17T12:32:57Z [Term] id: DOID:9008384 name: Tonsillar Neoplasms def: "Tumors or cancer of the PALATINE TONSIL." [MESH:D014067] synonym: "Tonsillar Neoplasm" EXACT [] synonym: "Tonsil Neoplasm" EXACT [] synonym: "Tonsil Neoplasms" EXACT [] xref: MESH:D014067 xref: NCI:C3417 is_a: DOID:9000906 ! Oropharyngeal Neoplasms [Term] id: DOID:9008385 name: Vomiting def: "The forcible expulsion of the contents of the STOMACH through the MOUTH." [MESH:D014839] synonym: "Emesis" EXACT [] xref: MESH:D014839 is_a: DOID:9003977 ! Digestive Signs and Symptoms [Term] id: DOID:9008386 name: Hydrops Fetalis alt_id: MIM:236750 def: "Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; PLEURA; PERICARDIUM; PLACENTA; PERITONEUM; AMNIOTIC FLUID. General fetal EDEMA may be of non-immunologic origin, or of immunologic origin as in the case of ERYTHROBLASTOSIS FETALIS." [MESH:D015160] synonym: "familial non immune hydrops fetalis" EXACT [] synonym: "fetal edema" EXACT [] synonym: "Fetal Hydrops" EXACT [] synonym: "HEMOGLOBIN H HYDROPS FETALIS SYNDROME" NARROW [] synonym: "HYDROPS FETALIS, ALPHA-THALASSEMIA-RELATED" NARROW [] synonym: "Hydrops Fetalis Nonimmune" EXACT [] synonym: "Idiopathic Hydrops Fetali" EXACT [] synonym: "Idiopathic Hydrops Fetalis" EXACT [] synonym: "Immune Hydrops Fetalis" EXACT [] synonym: "MYOM1-RELATED NON-IMMUNE FETAL HYDROPS" NARROW [] synonym: "NIHF" EXACT [] synonym: "nonimmune hydrops fetali" EXACT [] synonym: "non-immune hydrops fetalis" EXACT [] xref: EFO:0009051 xref: MESH:D015160 xref: NCI:C84767 is_a: DOID:1098 ! hemolytic disease of the fetus is_a: DOID:1099 ! alpha thalassemia is_a: DOID:9000197 ! Edema [Term] id: DOID:9008387 name: Selective Tooth Agenesis 9 synonym: "STHAG9" EXACT [] xref: MIM:617275 is_a: DOID:0050591 ! tooth agenesis [Term] id: DOID:9008388 name: Trigonocephaly 1 synonym: "TRIGNO1" EXACT [] xref: MIM:190440 is_a: DOID:9007261 ! Nonsyndromic Trigonocephaly [Term] id: DOID:9008389 name: Dentin Dysplasia, Type 2 alt_id: RDO:0007950 synonym: "coronal dentin dysplasia" EXACT [] synonym: "dentin dysplasia, Shields type 2" EXACT [] synonym: "dentin dysplasia, Shields type II" EXACT [] synonym: "dentin dysplasia, type II" EXACT [] synonym: "DTDP2" EXACT [] xref: MIM:125420 is_a: DOID:5608 ! dental pulp calcification is_a: DOID:701 ! dentin dysplasia [Term] id: DOID:9008390 name: Gas Bloat Syndrome synonym: "Post-fundoplication syndrome" EXACT [] xref: MESH:C535647 is_a: DOID:225 ! syndrome is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9008391 name: Bilateral Striatal Necrosis with Dystonia is_a: DOID:4751 ! striatonigral degeneration is_a: DOID:543 ! dystonia [Term] id: DOID:9008392 name: Y Chromosome Infertility synonym: "Y Chromosome-Related Azoospermia" EXACT [] xref: MESH:C580551 xref: RDO:0015939 is_a: DOID:14227 ! azoospermia [Term] id: DOID:9008393 name: Spinocerebellar Ataxia and Plaque-Like Deposits xref: MESH:C566671 xref: RDO:0014967 is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:9008394 name: Drug-Induced Dyskinesia def: "Abnormal movements, including HYPERKINESIS; HYPOKINESIA; TREMOR; and DYSTONIA, associated with the use of certain medications or drugs. Muscles of the face, trunk, neck, and extremities are most commonly affected. Tardive dyskinesia refers to abnormal hyperkinetic movements of the muscles of the face, tongue, and neck associated with the use of neuroleptic agents (see ANTIPSYCHOTIC AGENTS). (Adams et al., Principles of Neurology, 6th ed, p1199)" [MESH:D004409] synonym: "Drug-Induced Dyskinesias" EXACT [] synonym: "Medication Induced Dyskinesia" EXACT [] synonym: "Medication-Induced Dyskinesias" EXACT [] xref: EFO:1000904 xref: MESH:D004409 is_a: DOID:3602 ! toxic encephalopathy is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9008395 name: Kozlowski Tsuruta Taki Syndrome synonym: "Achondrogenesis-Kozlowski type" EXACT [] synonym: "Chondrodysplasia, lethal neonatal" EXACT [] xref: MESH:C537510 is_a: DOID:225 ! syndrome is_a: DOID:2256 ! osteochondrodysplasia [Term] id: DOID:9008396 name: Erythropoietic Protoporphyria, X-Linked Dominant alt_id: MIM:300752 synonym: "ALAS2-RELATED CONDITION" BROAD [] synonym: "ERYTHROHEPATIC PROTOPORPHYRIA, X-LINKED" EXACT [] synonym: "XLDPP" EXACT [] synonym: "XLDPT" EXACT [] synonym: "XLEPP" EXACT [] xref: EFO:0009064 xref: MESH:C567464 is_a: DOID:0080009 ! X-linked dominant disease is_a: DOID:13270 ! erythropoietic protoporphyria [Term] id: DOID:9008397 name: Maternal Phenylketonuria def: "A condition occurring in untreated or partially treated females with PHENYLKETONURIA when they become pregnant. This may result in damages to the FETUS, including MICROCEPHALY; MENTAL RETARDATION; congenital heart disease; FETAL GROWTH RETARDATION; and CRANIOFACIAL ABNORMALITIES. (From Am J Med Genet 1997 Mar 3;69(1):89-95)" [MESH:D017042] synonym: "Maternal Phenylalanine Hydroxylase Deficiency Disease" EXACT [] synonym: "PKU, Maternal" EXACT [] synonym: "Pregnancy in Phenylketonuria" EXACT [] xref: MESH:D017042 xref: MONDO:0016366 is_a: DOID:9004702 ! Pregnancy Complications is_a: DOID:9281 ! phenylketonuria [Term] id: DOID:9008399 name: FINCA Syndrome synonym: "fibrosis, neurodegeneration, and cerebral angiomatosis" EXACT [] synonym: "FINCA" EXACT [] xref: MIM:618278 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:9000784 ! Fibrosis is_a: DOID:9004079 ! Angiomatosis created_by: mtutaj creation_date: 2019-02-13T12:23:12Z [Term] id: DOID:9008400 name: Oculocerebral Hypopigmentation Syndrome Type Preus synonym: "Cross syndrome" EXACT [] synonym: "Kramer Syndrome" EXACT [] synonym: "oculocerebral hypopigmentation syndrome of Preus" EXACT [] synonym: "oculocerebral syndrome with hypopigmentation" EXACT [] xref: MESH:C537866 xref: MIM:257790 xref: MIM:257800 xref: MONDO:0009766 is_a: DOID:10123 ! pigmentation disease is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008401 name: Herpes Simplex Encephalitis 4 synonym: "acute encephalopathy, infection-induced (herpes-specific), susceptibility to, 6" EXACT [] synonym: "acute encephalopathy, infection-induced, susceptibility to, 6" RELATED [] synonym: "Herpes Simplex Encephalitis, Susceptibility To, 4" RELATED [] synonym: "IIAE6" EXACT [] xref: MIM:614850 is_a: DOID:9003870 ! Herpes Simplex Encephalitis [Term] id: DOID:9008402 name: Cyprus Facial Neuromusculoskeletal Syndrome alt_id: MIM:123853 xref: MESH:C536229 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:225 ! syndrome is_a: DOID:440 ! neuromuscular disease is_a: DOID:9001487 ! Facies [Term] id: DOID:9008403 name: Combined Pituitary Hormone Deficiency 4 alt_id: MIM:262700 synonym: "combined pituitary hormone deficiency with or without cerebellar defects" EXACT [] synonym: "CPHD4" EXACT [] synonym: "short stature, pituitary and cerebellar defects, and small sella turcica" EXACT [] xref: MESH:C567492 is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9410 ! panhypopituitarism [Term] id: DOID:9008404 name: Kousseff Nichols Syndrome synonym: "Noonan like contracture myopathy hyperpyrexia" EXACT [] xref: MESH:C537504 xref: RDO:0003355 is_a: DOID:225 ! syndrome is_a: DOID:3490 ! Noonan syndrome [Term] id: DOID:9008405 name: Mitochondrial Complex II Deficiency Nuclear Type 2 synonym: "MC2DN2" EXACT [] xref: MIM:619166 is_a: DOID:0060537 ! mitochondrial complex II deficiency created_by: mtutaj creation_date: 2021-02-01T15:47:00Z [Term] id: DOID:9008406 name: Congenital Deafness and Familial Myoclonic Epilepsy alt_id: MIM:220300 xref: MESH:C565649 is_a: DOID:9005154 ! Myoclonic Epilepsies is_a: DOID:9008681 ! Deafness [Term] id: DOID:9008407 name: ROLANDIC EPILEPSY, INTELLECTUAL DISABILITY, AND SPEECH DYSPRAXIA, X-LINKED synonym: "RESDX" EXACT [] synonym: "Rolandic Epilepsy, Mental Retardation, and Speech Dyspraxia, X-Linked" EXACT [] synonym: "SRPX2-RELATED CONDITION" EXACT [] synonym: "X-linked Rolandic epilepsy, impaired intellectual development, and speech dyspraxia" EXACT [] synonym: "X-linked Rolandic epilepsy with mental retardation and speech dyspraxia" EXACT [] xref: MESH:C564467 xref: MIM:300643 xref: MONDO:0010388 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0060135 ! apraxia is_a: DOID:1059 ! intellectual disability is_a: DOID:3329 ! benign epilepsy with centrotemporal spikes is_a: DOID:92 ! speech disorder [Term] id: DOID:9008408 name: Mesomelic Limb Shortening and Bowing alt_id: MIM:249710 xref: MESH:C565404 is_a: DOID:0080006 ! bone development disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008409 name: Pelvic Organ Prolapse alt_id: MIM:176780 alt_id: MIM:613088 def: "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines. Symptoms often include vaginal discomfort, DYSPAREUNIA; URINARY STRESS INCONTINENCE; and FECAL INCONTINENCE." [MESH:D056887] synonym: "pelvic organ prolapses" EXACT [] synonym: "PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO" EXACT [] synonym: "PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 2" EXACT [] synonym: "PROLAPSE OF VAGINA AND RECTUM" EXACT [] synonym: "PVOP1" EXACT [] synonym: "PVOP2" EXACT [] synonym: "Urogenital Prolapse" EXACT [] synonym: "Urogenital Prolapses" EXACT [] synonym: "VAGINAL PROLAPSE PELVIC ORGAN PROLAPSE, SUSCEPTIBILITY TO, 1" EXACT [] synonym: "Vaginal Vault Prolapse" EXACT [] synonym: "vaginal vault prolapses" EXACT [] xref: EFO:0004710 xref: MESH:D056887 is_a: DOID:9006649 ! Prolapse [Term] id: DOID:9008410 name: Autoinflammation with Infantile Enterocolitis def: "Autoinflammation with infantile enterocolitis is an autosomal dominant disorder characterized by onset of recurrent flares of autoinflammation in early infancy." [] synonym: "AIFEC" EXACT [] synonym: "SYNDROME OF ENTERCOLITIS AND AUTOINFLMMATION CAUSED BY MUTATION OF NLRC4 (SCAN4)" EXACT [] synonym: "Syndrome Of Enterocolitis And Autoinflammation" EXACT [] xref: MIM:616050 is_a: DOID:9002805 ! Enterocolitis is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:9008412 name: Polyarteritis Nodosa, Childhood-Onset def: "Vasculitis, autoinflammation, immunodeficiency, and hematologic defects syndrome (VAIHS) is an autosomal recessive multisystem disorder with onset in childhood. The phenotype is highly variable, but most patients have features of a systemic vascular inflammatory disorder with skin ulceration and recurrent strokes affecting the small vessels of the brain resulting in neurologic dysfunction. Other features may include recurrent fever, elevated acute-phase proteins, myalgias, lesions resembling polyarteritis nodosa, and/or livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients may have renal and/or gastrointestinal involvement, hypertension, aneurysms, or ischemic necrosis of the digits. Some patients present with clinical immunodeficiency. VAIHS is caused by homozygous or compound heterozygous mutation in the ADA2 gene (CECR1) on chromosome 22q11. (OMIM)" [] synonym: "ADA2 Deficiency" EXACT [] synonym: "ADENOSINE DEAMINASE 2 DEFICIENCY" EXACT [] synonym: "DADA2" EXACT [] synonym: "DEFICIENCY OF ADENOSINE DEAMINASE 2" BROAD [] synonym: "PAN" EXACT [] synonym: "POLYARTERITIS NODOSA, CHILDHOOOD-ONSET" RELATED [] synonym: "VAIHS" EXACT [] synonym: "VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME" EXACT [] xref: EFO:0009295 xref: MIM:615688 is_a: DOID:9810 ! polyarteritis nodosa [Term] id: DOID:9008413 name: Oligoanuria def: "Oliguria in which there is temporary anuria (complete cessation of urinary flow)." [] xref: RDO:9000077 is_a: DOID:2983 ! anuria is_a: DOID:9008760 ! Oliguria [Term] id: DOID:9008414 name: Pulmonary Contusion def: "Traumatic injury to the lung, resulting in hemorrhage." [] synonym: "lung contusion" EXACT [] synonym: "lung contusions" EXACT [] synonym: "pulmonary contusions" EXACT [] is_a: DOID:9000310 ! Lung Injury is_a: DOID:9005166 ! Contusions created_by: rgd creation_date: 2016-06-03T00:00:00Z [Term] id: DOID:9008415 name: CORTICOSTERONE METHYLOXIDASE TYPE II DEFICIENCY def: "This disease is an autosomal recessive disorder caused by a defect in the final biochemical step of aldosterone biosynthesis, the 18-hydroxylation of 18-hydroxycorticosterone (18-OHB) to aldosterone. This enzymatic defect results in decreased aldosterone and salt-wasting associated with an increased serum ratio of 18-OHB to aldosterone. In CMO II deficiency, aldosterone can be low or normal, but at the expense of increased secretion of 18-OHB." [MIM:610600] synonym: "ALDOSTERONE DEFICIENCY II" EXACT [] synonym: "CMO II DEFICIENCY" EXACT [] synonym: "CYP11B2-RELATED DISORDER" BROAD [] synonym: "EARLY-ONSET FAMILIAL HYPOALDOSTERONISM" BROAD [] synonym: "FAMILIAL HYPOALDOSTERONISM" BROAD [] synonym: "FHHA1B" EXACT [] synonym: "HYPERRENINEMIC HYPOALDOSTERONISM, FAMILIAL, 1B" EXACT [] synonym: "Hypoaldosteronism, congenital, due to CMO II deficiency" EXACT [] xref: MIM:610600 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005658 ! Hypoaldosteronism created_by: slaulederkind creation_date: 2024-01-29T10:41:43Z [Term] id: DOID:9008416 name: Cerebral Cortical Thinning def: "Decrease in CEREBRAL CORTICAL THICKNESS. (MESH)" [] synonym: "Cortical Thinning" EXACT [] xref: MESH:D000082643 is_a: DOID:9003814 ! Neurologic Manifestations is_a: DOID:9005214 ! Anatomical Pathological Conditions created_by: mtutaj creation_date: 2020-12-21T21:06:10Z [Term] id: DOID:9008417 name: Pruritus, Hereditary Localized alt_id: MIM:177100 xref: MESH:C566754 is_a: DOID:9006202 ! Pruritus [Term] id: DOID:9008418 name: Adnexal and Skin Appendage Neoplasms alt_id: RDO:0005802 def: "Neoplasms composed of sebaceous or sweat gland tissue or tissue of other skin appendages. The concept does not refer to neoplasms located in the sebaceous or sweat glands or in the other skin appendages." [MESH:D018294] xref: MESH:D018294 is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:9008419 name: Volvulus Of Midgut synonym: "Intestinal Malrotation, Familial" EXACT [] xref: MESH:C562456 xref: RDO:0012176 is_a: DOID:8445 ! intestinal volvulus is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:9008420 name: Familial Erythroleukemia synonym: "acute myelogenous leukemia, M6" EXACT [] synonym: "familial Di Guglielmo disease" EXACT [] xref: MESH:C565039 xref: MIM:133180 xref: MONDO:0007573 is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:9008421 name: Epistaxis def: "Bleeding from the nose." [MESH:D004844] synonym: "Nasal Bleeding" EXACT [] synonym: "Nasal Bleedings" EXACT [] synonym: "Nose Bleed" EXACT [] synonym: "Nosebleed" EXACT [] synonym: "Nose Bleeds" EXACT [] synonym: "SPONTANEOUS, RECURRENT EPISTAXIS" NARROW [] xref: EFO:0003895 xref: MESH:D004844 is_a: DOID:2825 ! nose disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9008422 name: Nanophthalmos 4 synonym: "NANOPHTHALMIA 4" EXACT [] synonym: "NNO4" EXACT [] xref: MIM:615972 is_a: DOID:0080634 ! nanophthalmos is_a: DOID:9834 ! hyperopia [Term] id: DOID:9008423 name: Milner Khallouf Gibson Syndrome xref: MESH:C537473 is_a: DOID:10907 ! microcephaly is_a: DOID:13636 ! Fanconi anemia is_a: DOID:225 ! syndrome is_a: DOID:9005616 ! Micrognathism is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9008424 name: Fowlpox def: "A poxvirus infection of poultry and other birds characterized by the formation of wart-like nodules on the skin and diphtheritic necrotic masses (cankers) in the upper digestive and respiratory tracts." [MESH:D005586] synonym: "Bird Pox" EXACT [] synonym: "Birdpox" EXACT [] synonym: "Epithelioma Contagiosum" EXACT [] synonym: "Fowl Diphtheria" EXACT [] synonym: "Fowl Diphtherias" EXACT [] synonym: "Fowl Pox" EXACT [] synonym: "Variola Avium" EXACT [] xref: MESH:D005586 is_a: DOID:8729 ! milker's nodule is_a: DOID:9006114 ! Bird Diseases [Term] id: DOID:9008425 name: Acute Fatty Liver of Pregnancy alt_id: RDO:0003881 synonym: "Acute fatty liver, gestational" EXACT [] xref: MESH:C537957 is_a: DOID:9004702 ! Pregnancy Complications is_a: DOID:9452 ! steatotic liver disease [Term] id: DOID:9008426 name: Focal Cortical Dysplasia of Taylor alt_id: MIM:607341 synonym: "CDT" EXACT [] synonym: "Cortical dysplasia of Taylor" EXACT [] synonym: "FCDT" EXACT [] synonym: "FCORD2" EXACT [] synonym: "Focal cortical dysplasia, type 2" EXACT [] synonym: "Focal Cortical Dysplasia, Type II" EXACT [] synonym: "focal cortical dysplasia, type II, somatic" NARROW [] synonym: "MTOR-RELATED CONDITION" BROAD [] synonym: "NEURODEVELOPMENTAL DISORDER, MTOR RELATED" BROAD [] xref: MESH:C537067 xref: NCI:C201593 is_a: DOID:1826 ! epilepsy is_a: DOID:9005611 ! Malformations of Cortical Development, Group I [Term] id: DOID:9008427 name: Gaucher Disease, Norrbottnian Type alt_id: RDO:0014162 xref: MESH:C565556 is_a: DOID:0110959 ! Gaucher's disease type III [Term] id: DOID:9008428 name: Mid-Tone Neural Deafness alt_id: MIM:124700 xref: MESH:C565122 is_a: DOID:10003 ! sensorineural hearing loss [Term] id: DOID:9008431 name: Internal Carotid Artery, Spontaneous Dissection of alt_id: MIM:147820 xref: MESH:C564125 is_a: DOID:9007234 ! Carotid Artery Dissection, Internal [Term] id: DOID:9008433 name: Myopia 19, Autosomal Dominant synonym: "MYP19" EXACT [] xref: MIM:613969 xref: MONDO:0013508 is_a: DOID:11830 ! myopia [Term] id: DOID:9008435 name: Swine Diseases def: "Diseases of domestic swine and of the wild boar of the genus Sus." [MESH:D013553] synonym: "Swine Disease" EXACT [] xref: MESH:D013553 is_a: DOID:9004985 ! Animal Diseases [Term] id: DOID:9008436 name: Oral Fistula def: "An abnormal passage within the mouth communicating between two or more anatomical structures." [MESH:D016155] synonym: "Oral Fistulas" EXACT [] xref: MESH:D016155 is_a: DOID:403 ! mouth disease is_a: DOID:9007343 ! Fistula [Term] id: DOID:9008437 name: Cutaneous Syphilis def: "Cutaneous lesions arising from infection with Treponema pallidum. In the primary stage, 18-21 days following infection, one or more chancres appear. If untreated, the subsequent stages of the disease appear as syphilids. These eruptions are superficial, nondestructive, exanthematic, transient, macular roseolas that may later be maculopapular or papular polymorphous or scaly, pustular, pigmented eruptions.(Arnold, Odom, and James, Andrew's Diseases of the Skin, 8th ed, p409)" [MESH:D013591] synonym: "Skin Syphilis" EXACT [] synonym: "Syphilid" EXACT [] synonym: "Syphilids" EXACT [] xref: EFO:1000887 xref: MESH:D013591 is_a: DOID:4166 ! syphilis is_a: DOID:9003209 ! Bacterial Skin Diseases [Term] id: DOID:9008438 name: Glanzmann Thrombasthenia 2 def: "An autosomal recessive bleeding disorder characterized by failure of platelet aggregation and by absent or diminished clot retraction. Caused by homozygous or compound heterozygous mutation in the ITGB3 gene, which encodes platelet glycoprotein IIIa, on chromosome 17q21.32." [MIM:619267] synonym: "BDPLT23" EXACT [] synonym: "GT2" EXACT [] synonym: "Platelet-Type Bleeding Disorder 23" EXACT [] xref: MIM:619267 is_a: DOID:2219 ! Glanzmann's thrombasthenia created_by: mtutaj creation_date: 2021-04-14T14:37:42Z [Term] id: DOID:9008440 name: Chromosome 15, Trisomy Mosaicism synonym: "Trisomy 15 mosaicism" EXACT [] synonym: "Uniparental disomy of 15" EXACT [] xref: MESH:C538037 is_a: DOID:9003960 ! Trisomy is_a: DOID:9006108 ! Uniparental Disomy [Term] id: DOID:9008441 name: Preeclampsia/Eclampsia 5 synonym: "PEE5" EXACT [] xref: MIM:614595 is_a: DOID:10591 ! pre-eclampsia [Term] id: DOID:9008442 name: Myopia 24, Autosomal Dominant synonym: "myopia-24" EXACT [] synonym: "MYP24" EXACT [] xref: MIM:615946 xref: RDO:9001498 is_a: DOID:11830 ! myopia [Term] id: DOID:9008443 name: Colorectal Neoplasms def: "Tumors or cancer of the COLON or the RECTUM or both. Risk factors for colorectal cancer include chronic ULCERATIVE COLITIS; FAMILIAL POLYPOSIS COLI; exposure to ASBESTOS; and irradiation of the CERVIX UTERI." [MESH:D015179] synonym: "colorectal neoplasm" EXACT [] synonym: "colorectal tumor" EXACT [] synonym: "colorectal tumors" EXACT [] xref: EFO:0000360 xref: EFO:0004142 xref: MESH:D015179 is_a: DOID:1285 ! rectal disease is_a: DOID:5353 ! colonic disease is_a: DOID:9002245 ! Intestinal Neoplasms [Term] id: DOID:9008444 name: Skeletal Muscle Injuries def: "Dysfunction of skeletal muscle causally related to a traumatic, chemical, or other type of injury." [] synonym: "injury of skeletal muscle" EXACT [] synonym: "skeletal muscle injury" EXACT [] synonym: "traumatic injury of skeletal muscle" EXACT [] xref: RDO:9000330 is_a: DOID:0080000 ! muscular disease is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9008445 name: Intraoperative Awareness def: "Occurence of a patient becoming conscious during a procedure performed under GENERAL ANESTHESIA and subsequently having recall of these events. (From Anesthesiology 2006, 104(4): 847-64.)" [MESH:D058926] synonym: "Anesthesia Awareness" EXACT [] synonym: "Awareness During Anesthesia" EXACT [] xref: MESH:D058926 xref: RDO:0007860 is_a: DOID:9007171 ! Intraoperative Complications [Term] id: DOID:9008446 name: Fibrous Tissue Neoplasms def: "Neoplasms composed of fibrous tissue, the ordinary connective tissue of the body, made up largely of yellow or white fibers. The concept does not refer to neoplasms located in fibrous tissue." [MESH:D018218] synonym: "fibrous tissue neoplasm" EXACT [] xref: EFO:1000255 xref: MESH:D018218 is_a: DOID:9003944 ! Connective Tissue Neoplasms [Term] id: DOID:9008447 name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND SPASTICITY synonym: "PEBAS" EXACT [] synonym: "PROGRESSIVE CHILDHOOD ENCEPHALOPATHY" EXACT [] xref: MIM:617669 xref: RDO:9005157 is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-12-04T00:00:00Z [Term] id: DOID:9008448 name: YUKSEL-VOGEL-BAUER SYNDROME def: "This disease is a multisystemic disorder characterized by variable congenital defects involving the brain, kidney, heart, and/or skeletal system." [MIM:620703] synonym: "YUVOB" EXACT [] xref: MIM:620703 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulederkind creation_date: 2024-03-26T12:04:49Z [Term] id: DOID:9008449 name: Tetany def: "A disorder characterized by muscle twitches, cramps, and carpopedal spasm, and when severe, laryngospasm and seizures. This condition is associated with unstable depolarization of axonal membranes, primarily in the peripheral nervous system. Tetany usually results from HYPOCALCEMIA or reduced serum levels of MAGNESIUM that may be associated with HYPERVENTILATION; HYPOPARATHYROIDISM; RICKETS; UREMIA; or other conditions. (From Adams et al., Principles of Neurology, 6th ed, p1490)" [MESH:D013746] synonym: "Neonatal Tetanies" EXACT [] synonym: "Neonatal Tetany" EXACT [] synonym: "Spasmophilia" EXACT [] synonym: "Spasmophilias" EXACT [] synonym: "Tetanies" EXACT [] synonym: "Tetanilla" EXACT [] synonym: "Tetanillas" EXACT [] xref: MESH:D013746 is_a: DOID:9000165 ! Neuromuscular Manifestations is_a: DOID:9009050 ! Hypocalcemia [Term] id: DOID:9008450 name: Pelvic Pain def: "Pain in the pelvic region of genital and non-genital origin and of organic or psychogenic etiology. Frequent causes of pain are distension or contraction of hollow viscera, rapid stretching of the capsule of a solid organ, chemical irritation, tissue ischemia, and neuritis secondary to inflammatory, neoplastic, or fibrotic processes in adjacent organs. (Kase, Weingold & Gershenson: Principles and Practice of Clinical Gynecology, 2d ed, pp479-508)" [MESH:D017699] synonym: "Pelvic Pains" EXACT [] xref: MESH:D017699 is_a: DOID:9000641 ! Pain [Term] id: DOID:9008451 name: Thrombocytopenia 10 def: "An autosomal recessive disorder characterized by decreased numbers of platelets apparent from birth or early childhood. Caused by compound heterozygous mutation in the PTPRJ gene on chromosome 11p11." [MIM:620484] synonym: "THC10" EXACT [] synonym: "Thrombocytopenia, autosomal recessive, 10" EXACT [] xref: MIM:620484 xref: MONDO:0957578 is_a: DOID:1588 ! thrombocytopenia created_by: mtutaj creation_date: 2023-09-01T09:58:34Z [Term] id: DOID:9008452 name: Candidemia def: "A form of invasive candidiasis where species of CANDIDA are present in the blood." [MESH:D058387] synonym: "Candidemias" EXACT [] xref: EFO:1001282 xref: MESH:D058387 xref: RDO:0007824 is_a: DOID:9000522 ! Invasive Candidiasis is_a: DOID:9001228 ! Fungemia [Term] id: DOID:9008453 name: Dysphoric Cerebral Angiopathy alt_id: MIM:213500 xref: MESH:C565864 is_a: DOID:0112313 ! brain small vessel disease [Term] id: DOID:9008454 name: Trichoepithelioma, Multiple Familial, 2 alt_id: MIM:612099 synonym: "MFT2" EXACT [] xref: MESH:C567418 xref: RDO:0015492 is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9008455 name: High-Frequency Hearing Loss def: "Hearing loss in frequencies above 1000 hertz." [MESH:D006316] synonym: "high frequency deafness" EXACT [] xref: MESH:D006316 xref: NCI:C34663 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9008456 name: Delayed Emergence from Anesthesia def: "Abnormally slow pace of regaining CONSCIOUSNESS after general anesthesia (ANESTHESIA, GENERAL) usually given during surgical procedures. This condition is characterized by persistent somnolence." [MESH:D055191] synonym: "Delayed Awakening from Anesthesia" EXACT [] synonym: "Delayed Recovery from Anesthesia" EXACT [] synonym: "Delayed Regaining of Consciousness" EXACT [] synonym: "Delayed Return of Consciousness" EXACT [] synonym: "Post-Anesthesia Delayed Awakening" EXACT [] synonym: "Post-Anesthesia Delayed Awakenings" EXACT [] synonym: "Post-Anesthesia Residual Paralyses" EXACT [] synonym: "Post-Anesthesia Residual Paralysis" EXACT [] synonym: "Postoperative Residual Curarisation" EXACT [] synonym: "Postoperative Residual Curarisations" EXACT [] synonym: "Postoperative Residual Curarization" EXACT [] synonym: "Postoperative Residual Curarizations" EXACT [] synonym: "Postoperative Residual Weakness" EXACT [] synonym: "Postoperative Residual Weaknesses" EXACT [] synonym: "Post-Procedural Delayed Awakening" EXACT [] synonym: "Post-Procedural Delayed Awakenings" EXACT [] synonym: "Residual Block" EXACT [] synonym: "Residual Blocks" EXACT [] synonym: "Residual Neuromuscular Block" EXACT [] synonym: "Residual Neuromuscular Blockade" EXACT [] synonym: "Residual Neuromuscular Blockades" EXACT [] synonym: "Residual Neuromuscular Blocks" EXACT [] xref: MESH:D055191 xref: RDO:0007704 is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9008457 name: Thrombocytopenia 7 synonym: "THC7" EXACT [] synonym: "thrombocytopenia, autosomal dominant, 7" EXACT [] xref: MIM:619130 is_a: DOID:1588 ! thrombocytopenia created_by: mtutaj creation_date: 2021-01-04T16:38:21Z [Term] id: DOID:9008458 name: Delayed Speech Development, with Facial Asymmetry, Strabismus, and Transverse Earlobe Crease alt_id: MIM:182875 xref: MESH:C566677 is_a: DOID:540 ! strabismus is_a: DOID:9001487 ! Facies is_a: DOID:9005466 ! Language Development Disorders [Term] id: DOID:9008460 name: Poult Enteritis Mortality Syndrome def: "An acute, transmissible, infectious disease associated with high MORTALITY and MORBIDITY in young turkeys (poults). It is characterized by DIARRHEA; ANOREXIA; growth depression, and immune dysfunction. The cause is unknown but astroviruses (AVASTROVIRUS) and coronaviruses (CORONAVIRUS, TURKEY) have been isolated from diseased poults and are thought to cause the enteritis and increased susceptibility to bacterial infections." [MESH:D031261] synonym: "Spiking Mortality Syndrome" EXACT [] xref: MESH:D031261 is_a: DOID:225 ! syndrome is_a: DOID:9004902 ! Poultry Diseases [Term] id: DOID:9008461 name: Pancreas Agenesis, Dorsal synonym: "Agenesis of the dorsal pancreas" EXACT [] synonym: "Pancreas, dorsal, agenesis of" EXACT [] xref: MESH:C538109 xref: MIM:167755 is_a: DOID:0050877 ! pancreatic agenesis is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9008462 name: Lipodermatosclerosis synonym: "Acute lipodermatosclerosis" EXACT [] xref: MESH:C537026 is_a: DOID:2723 ! dermatitis is_a: DOID:8472 ! localized scleroderma [Term] id: DOID:9008463 name: Immunoproliferative Disorders def: "Disorders characterized by abnormal proliferation of primary cells of the immune system or by excessive production of immunoglobulins." [] synonym: "Immunoproliferative Disorder" EXACT [] xref: MESH:D007160 is_a: DOID:2914 ! immune system disease [Term] id: DOID:9008464 name: Cryopyrin-Associated Periodic Syndromes alt_id: DOID:0090061 def: "A group of rare autosomal dominant diseases, commonly characterized by atypical URTICARIA (hives) with systemic symptoms that develop into end-organ damage. The atypical hives do not involve T-cell or autoantibody. Cryopyrin-associated periodic syndrome includes three previously distinct disorders: Familial cold autoinflammatory syndrome; Muckle-Wells Syndrome; and CINCA Syndrome, that are now considered to represent a disease continuum, all caused by NLRP3 protein mutations." [] synonym: "ANTIBODY DEFICIENCY AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED" EXACT [] synonym: "cryopyrin-associated periodic syndrome" EXACT [] synonym: "cryopyrinopathies" EXACT [] synonym: "Cryopyrinopathy" EXACT [] synonym: "Familial Cold Induced Autoinflammatory Syndrome" EXACT [] synonym: "familial cold urticaria" EXACT [] synonym: "familial cold urticarias" EXACT [] synonym: "FCAS" EXACT [] synonym: "FCU" EXACT [] synonym: "PLAID" EXACT [] xref: MESH:D056587 is_a: DOID:225 ! syndrome is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:9008465 name: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE def: "A disease characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly." [MIM:618870] synonym: "mild skeletal dysplasia with joint laxity and advanced bone age" EXACT [] synonym: "SDJLABA" EXACT [] xref: MIM:618870 is_a: DOID:9003033 ! Familial Joint Laxity is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9007661 ! Dwarfism created_by: slaulede creation_date: 2020-08-20T12:30:04Z [Term] id: DOID:9008466 name: Hypohidrotic Ectodermal Dysplasia, with Hypothyroidism and Agenesis of the Corpus Callosum alt_id: MIM:225040 xref: MESH:C565605 is_a: DOID:0050328 ! congenital hypothyroidism is_a: DOID:1059 ! intellectual disability is_a: DOID:14793 ! hypohidrotic ectodermal dysplasia is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:9008467 name: Retinohepatoendocrinologic Syndrome alt_id: MIM:268040 synonym: "RHE syndrome" EXACT [] xref: MESH:C564839 is_a: DOID:225 ! syndrome is_a: DOID:28 ! endocrine system disease is_a: DOID:409 ! liver disease is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9008468 name: Hanhart Syndrome synonym: "Oromandibular limb hypogenesis complex" EXACT [] xref: MESH:C535629 is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008470 name: Familial Atrial Fibrillation 2 alt_id: MIM:608988 alt_id: RDO:0013036 synonym: "ATFB2" EXACT [] xref: MESH:C563903 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9008471 name: Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness alt_id: MIM:250420 synonym: "METAPHYSEAL DYSOSTOSIS, IMPAIRED INTELLECTUAL DEVELOPMENT, AND CONDUCTIVE DEAFNESS" EXACT [] xref: MESH:C565396 is_a: DOID:1059 ! intellectual disability is_a: DOID:1934 ! dysostosis is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9008473 name: Lacrimal Puncta Agenesis alt_id: RDO:0014982 synonym: "absence of lacrimal puncta" EXACT [] xref: MESH:C566703 is_a: DOID:13929 ! lacrimal duct obstruction [Term] id: DOID:9008474 name: Beta-Aminoisobutyric Acid, Urinary Excretion of alt_id: MIM:210100 synonym: "BAIB Urinary Excretion" EXACT [] synonym: "Hyper-Beta-Aminoisobutyric Aciduria" EXACT [] xref: MESH:C565904 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9008475 name: Hemifacial Myohyperplasia alt_id: MIM:606773 synonym: "Hypertrophy and asymmetry of the facial muscles" EXACT [] xref: MESH:C535862 is_a: DOID:9008797 ! Facial Asymmetry [Term] id: DOID:9008476 name: Allergic Seminal Vulvovaginitis alt_id: MIM:193450 xref: MESH:C565993 xref: MONDO:0008669 is_a: DOID:1205 ! allergic disease is_a: DOID:2273 ! vulvovaginitis [Term] id: DOID:9008477 name: Faciocardiomelic Syndrome alt_id: MIM:612731 xref: MESH:C567176 is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008478 name: Late Onset Disorders def: "Pathological conditions (Disorder, SYNDROME, or DISEASE) whose SIGNS AND SYMPTOMS manifest late in the life of an individual." [MESH:D000067562] synonym: "Late Onset Disease" EXACT [] synonym: "Late Onset Diseases" EXACT [] synonym: "Late Onset Disorder" EXACT [] synonym: "Later Onset Disorder" EXACT [] synonym: "Later Onset Disorders" EXACT [] xref: MESH:D000067562 is_a: DOID:9000817 ! Disease Attributes [Term] id: DOID:9008479 name: Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial alt_id: MIM:500005 xref: MESH:C564024 is_a: DOID:10763 ! hypertension is_a: DOID:447 ! renal tubular transport disease is_a: DOID:9000808 ! Hypercholesterolemia [Term] id: DOID:9008480 name: Vesicoureteral Reflux 6 synonym: "VUR6" EXACT [] xref: MIM:614319 is_a: DOID:9620 ! vesicoureteral reflux [Term] id: DOID:9008481 name: Spina Bifida, X-Linked xref: MESH:C564459 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0080016 ! spina bifida [Term] id: DOID:9008482 name: Congenital Pain Insensitivity def: "A syndrome characterized by indifference to PAIN despite the ability to distinguish noxious from non-noxious stimuli. Absent corneal reflexes and INTELLECTUAL DISABILITY may be associated. Familial forms with autosomal recessive and autosomal dominant patterns of inheritance have been described. (Adams et al., Principles of Neurology, 6th ed, p1343)" [MESH:D000699] synonym: "channelopathy-associated insensitivity to pain" EXACT [] synonym: "congenital analgesia" EXACT [] synonym: "Congenital Indifference to Pain" EXACT [] synonym: "Congenital Insensitivity To Pain" EXACT [] synonym: "congenital pain indifference" EXACT [] synonym: "PAIN INSENSITIVITY" EXACT [] xref: MESH:D000699 is_a: DOID:225 ! syndrome is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:630 ! genetic disease [Term] id: DOID:9008483 name: Cortical Defects, Wormian Bones, and Dentinogenesis Imperfecta alt_id: MIM:604922 xref: MESH:C565734 is_a: DOID:0080006 ! bone development disease is_a: DOID:4154 ! dentinogenesis imperfecta [Term] id: DOID:9008484 name: Simian Acquired Immunodeficiency Syndrome def: "Acquired defect of cellular immunity that occurs naturally in macaques infected with SRV serotypes, experimentally in monkeys inoculated with SRV or MASON-PFIZER MONKEY VIRUS; (MPMV), or in monkeys infected with SIMIAN IMMUNODEFICIENCY VIRUS." [MESH:D016097] synonym: "SAIDS" EXACT [] synonym: "Simian Acquired Immune Deficiency Syndrome" EXACT [] synonym: "Simian Acquired Immuno Deficiency Syndrome" EXACT [] synonym: "Simian AIDS" EXACT [] synonym: "Simian AIDSs" EXACT [] xref: MESH:D016097 xref: RDO:0006939 is_a: DOID:225 ! syndrome is_a: DOID:9001284 ! Monkey Diseases is_a: DOID:9004448 ! Slow Virus Diseases is_a: DOID:9005091 ! Lentivirus Infections [Term] id: DOID:9008485 name: Cross Infection def: "Any infection which a patient contracts in a health-care institution." [MESH:D003428] synonym: "Cross Infections" EXACT [] synonym: "Health Care Associated Infection" EXACT [] synonym: "Healthcare Associated Infection" EXACT [] synonym: "Health Care Associated Infections" EXACT [] synonym: "Healthcare Associated Infections" EXACT [] synonym: "Hospital Infection" EXACT [] synonym: "Hospital Infections" EXACT [] synonym: "Nosocomial Infection" EXACT [] synonym: "Nosocomial Infections" EXACT [] xref: MESH:D003428 xref: RDO:0005295 is_a: DOID:9004550 ! Iatrogenic Disease [Term] id: DOID:9008486 name: Neurovisceral Storage Disease with Curvilinear Bodies alt_id: MIM:257000 xref: MESH:C564944 is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:9008487 name: Glycinuria with or without Oxalate Urolithiasis alt_id: RDO:0012472 synonym: "GLYCINURIA WITH OR WITHOUT OXALATE NEPHROLITHIASIS" EXACT [] synonym: "hyperglycinuria" EXACT [] synonym: "IMINOGLYCINURIA TYPE II" EXACT [] xref: MESH:C563009 xref: MIM:138500 xref: RDO:0007995 is_a: DOID:0080653 ! urolithiasis is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9008488 name: Autosomal Recessive Intellectual Developmental Disorder 81 def: "A disease characterized by a variable neurobehavioral and neuromuscular phenotype. Caused by homozygous or compound heterozygous mutation in the ASCC3 gene on chromosome 6q16." [MIM:620700] synonym: "ASCC3-ASSOCIATED DISORDER" EXACT [] synonym: "MRT81" EXACT [] xref: MIM:620700 is_a: DOID:0060308 ! autosomal recessive intellectual developmental disorder created_by: tutajm creation_date: 2024-02-05T09:37:46Z [Term] id: DOID:9008490 name: Ductal, Lobular, and Medullary Neoplasms def: "Neoplasms, usually carcinoma, located within the center of an organ or within small lobes, and in the case of the breast, intraductally. The emphasis of the name is on the location of the neoplastic tissue rather than on its histological type. Most cancers of this type are located in the breast." [] xref: MESH:D018299 is_a: DOID:9006493 ! Glandular and Epithelial Neoplasms [Term] id: DOID:9008491 name: Ulnar Hypoplasia with Mental Retardation alt_id: MIM:276821 synonym: "Bilateral ulnar hypoplasia and mental retardation" EXACT [] synonym: "Mesomelia of the upper limbs, absent nails, clubfeet, and mental retardation" EXACT [] synonym: "Mesomelia of the upper limbs, anonychia congenita, clubfeet, and mental retardation" EXACT [] synonym: "Ulna Hypoplasia with Mental Retardation" EXACT [] xref: MESH:C536934 xref: MESH:C564757 is_a: DOID:0080006 ! bone development disease is_a: DOID:1059 ! intellectual disability is_a: DOID:11836 ! clubfoot is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9008493 name: Viral Cell Transformations def: "An inheritable change in cells manifested by changes in cell division and growth and alterations in cell surface properties. It is induced by infection with a transforming virus." [MESH:D002472] synonym: "Viral Cell Transformation" EXACT [] xref: MESH:D002472 is_a: DOID:9007608 ! Neoplastic Cell Transformation [Term] id: DOID:9008494 name: Pneumonia of Swine, Mycoplasmal def: "A chronic, clinically mild, infectious pneumonia of PIGS caused by MYCOPLASMA HYOPNEUMONIAE. Ninety percent of swine herds worldwide are infected with this economically costly disease that primarily affects animals aged two to six months old. The disease can be associated with porcine respiratory disease complex. PASTEURELLA MULTOCIDA is often found as a secondary infection." [MESH:D045729] synonym: "Enzootic Pneumonia of Pigs" EXACT [] synonym: "Enzootic Pneumonia of Swine" EXACT [] synonym: "Mycoplasma Pneumonia of Pigs" EXACT [] synonym: "Mycoplasma Pneumonia of Swine" EXACT [] synonym: "Swine Enzootic Pneumonia" EXACT [] synonym: "Swine Mycoplasmal Pneumonia" EXACT [] synonym: "Swine Mycoplasma Pneumonia" EXACT [] xref: MESH:D045729 xref: RDO:0007518 is_a: DOID:874 ! bacterial pneumonia is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9008495 name: Glaucoma 1, Open Angle, D alt_id: MIM:602429 synonym: "GLAUCOMA, PRIMARY OPEN ANGLE, ADULT-ONSET" EXACT [] synonym: "GLC1D" EXACT [] xref: MESH:C566551 is_a: DOID:1070 ! primary open angle glaucoma [Term] id: DOID:9008496 name: Visceral Heterotaxy 4, Autosomal def: "This disease is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another." [MIM:613751] synonym: "ACVR2B-RELATED CONDITION" EXACT [] synonym: "HTX4" EXACT [] xref: MIM:613751 is_a: DOID:0050545 ! visceral heterotaxy [Term] id: DOID:9008497 name: Esophageal Ulcer def: "A rare form of gastrointestinal ulcer." [] xref: RDO:9000519 is_a: DOID:13976 ! peptic esophagitis is_a: DOID:8534 ! gastroesophageal reflux disease [Term] id: DOID:9008498 name: Tracheoesophageal Fistula def: "Abnormal passage between the ESOPHAGUS and the TRACHEA, acquired or congenital, often associated with ESOPHAGEAL ATRESIA." [MESH:D014138] synonym: "Esophagotracheal Fistula" EXACT [] synonym: "Esophagotracheal Fistulas" EXACT [] synonym: "Tracheoesophageal Fistulas" EXACT [] xref: MESH:D014138 is_a: DOID:3225 ! tracheal disease is_a: DOID:9001952 ! Respiratory Tract Fistula is_a: DOID:9004368 ! Esophageal Fistula [Term] id: DOID:9008499 name: Microstomia def: "A congenital defect in which the mouth is unusually small. (Dorland, 27th ed)" [MESH:D008865] synonym: "Microstomias" EXACT [] xref: MESH:D008865 is_a: DOID:9001018 ! Mouth Abnormalities [Term] id: DOID:9008500 name: Classical Lissencephalies and Subcortical Band Heterotopias def: "Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. They result in cognitive impairment; SEIZURES; and HYPOTONIA or spasticity. Mutations of two genes, LIS1, the gene for the non-catalytic subunit of PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE IB; and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. Additional variants of classical (Type I) lissencephaly have been linked to RELN, the gene for reelin, and ARX, the gene for aristaless related homeobox protein. (From Leventer, R.J., et al, Mol Med Today. 2000 Jul;6(7):277-84 and Barkovich, A.J., et al, Neurology. 2005 Dec 27;65(12):1873-87.)" [MESH:D054221] synonym: "agyria pachygyria band spectrum" EXACT [] synonym: "classical lissencephalies" EXACT [] synonym: "Classical Lissencephaly" EXACT [] synonym: "Classical Lissencephaly Syndrome" EXACT [] synonym: "Classic Lissencephaly" EXACT [] synonym: "Heterotopias, Subcortical Laminar" EXACT [] synonym: "Isolated Lissencephaly Sequence" EXACT [] synonym: "LISSENCEPHALY AND AGENESIS OF CORPUS CALLOSUM SUBCORTICAL LAMINAR HETEROTOPIA, X-LINKED" NARROW [] synonym: "Lissencephaly Subcortical Band Heterotopia" EXACT [] synonym: "lissencephaly-subcortical band heterotopias" EXACT [] synonym: "SBH" NARROW [] synonym: "SCLH" NARROW [] synonym: "X-linked lissencephalies" EXACT [] synonym: "X-linked lissencephaly" EXACT [] synonym: "XLIS" EXACT [] xref: MESH:D054221 is_a: DOID:0050453 ! lissencephaly is_a: DOID:9005867 ! X-Linked Intellectual Developmental Disorders [Term] id: DOID:9008501 name: Submandibular Gland Neoplasms def: "New abnormal growth of tissue in the SUBMANDIBULAR GLAND." [MESH:D013365] synonym: "Submandibular Gland Neoplasm" EXACT [] xref: EFO:1001853 xref: MESH:D013365 xref: NCI:C134961 xref: RDO:0006642 is_a: DOID:12897 ! submandibular gland disease is_a: DOID:9003216 ! Salivary Gland Neoplasms [Term] id: DOID:9008502 name: Anorchia alt_id: MIM:273250 synonym: "absence of testes" EXACT [] synonym: "Anorchia, Familial" EXACT [] synonym: "Congenital absence of testes" EXACT [] synonym: "DHX37-RELATED CONDITION" BROAD [] synonym: "Empty scrotum" EXACT [] synonym: "Testicular Regression, Embryonic" EXACT [] synonym: "Testicular regression syndrome" EXACT [] synonym: "Vanishing testes" EXACT [] synonym: "XY gonadal agenesis syndrome" EXACT [] synonym: "XY gonadal dysgenesis syndrome" EXACT [] xref: MESH:C537770 is_a: DOID:14448 ! 46,XY sex reversal [Term] id: DOID:9008503 name: Persistent Vegetative State def: "Vegetative state refers to the neurocognitive status of individuals with severe brain damage, in whom physiologic functions (sleep-wake cycles, autonomic control, and breathing) persist, but awareness (including all cognitive function and emotion) is abolished." [MESH:D018458] synonym: "Minimally Conscious State" EXACT [] synonym: "Minimally Conscious States" EXACT [] synonym: "Permanent Vegetative State" EXACT [] synonym: "Permanent Vegetative States" EXACT [] synonym: "Persistent Unawareness State" EXACT [] synonym: "Persistent Unawareness States" EXACT [] synonym: "Persistent Vegetative States" EXACT [] synonym: "Post Comatose Unawareness State" EXACT [] synonym: "Postcomatose Unawareness State" EXACT [] synonym: "Post-Comatose Unawareness States" EXACT [] synonym: "Postcomatose Unawareness States" EXACT [] synonym: "Post Traumatic Unawareness State" EXACT [] synonym: "Posttraumatic Unawareness State" EXACT [] synonym: "Post-Traumatic Unawareness States" EXACT [] synonym: "Posttraumatic Unawareness States" EXACT [] synonym: "Post Traumatic Vegetative State" EXACT [] synonym: "Post-Traumatic Vegetative States" EXACT [] synonym: "Prolonged Post Traumatic Unawareness" EXACT [] synonym: "Prolonged Post-Traumatic Unawarenesses" EXACT [] synonym: "PVS (Persistent Vegetative State)" EXACT [] synonym: "Transient Vegetative State" EXACT [] synonym: "Transient Vegetative States" EXACT [] synonym: "Vegetative State" EXACT [] synonym: "Vegetative States" EXACT [] xref: MESH:D018458 is_a: DOID:9007650 ! Unconsciousness is_a: DOID:9008381 ! Chronic Brain Damage [Term] id: DOID:9008504 name: Nidovirales Infections def: "Infections with viruses of the order NIDOVIRALES. The concept includes ARTERIVIRUS INFECTIONS and CORONAVIRIDAE INFECTIONS." [MESH:D030341] synonym: "Nidovirales infectious disease" EXACT [] xref: EFO:0007396 xref: MESH:D030341 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9008505 name: Juvenile Recurrent Parotitis alt_id: MIM:603588 xref: MESH:C566359 is_a: DOID:10301 ! parotitis [Term] id: DOID:9008506 name: Autosomal Dominant Intellectual Developmental Disorder 65 def: "Characterized by delayed motor and speech acquisition, variably impaired intellectual development, and behavioral abnormalities. Caused by heterozygous mutation in the KDM4B gene on chromosome 19p13." [MIM:619320] synonym: "autosomal dominant mental retardation 65" EXACT [] synonym: "MRD65" EXACT [] xref: MIM:619320 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2021-05-19T13:22:12Z [Term] id: DOID:9008507 name: Flank Pain def: "Pain emanating from below the RIBS and above the ILIUM." [MESH:D021501] synonym: "Flank Pains" EXACT [] synonym: "Left Flank Pain" EXACT [] synonym: "Left Flank Pains" EXACT [] synonym: "Right Flank Pain" EXACT [] synonym: "Right Flank Pains" EXACT [] xref: MESH:D021501 is_a: DOID:9000641 ! Pain [Term] id: DOID:9008508 name: Weill-Marchesani Syndrome 4 alt_id: MIM:613195 alt_id: OMIA:000588 synonym: "ADAMTS17-RELATED CONDITION" EXACT [] synonym: "ADAMTS17-RELATED DISORDER" EXACT [] synonym: "Glaucoma, primary open angle, ADAMTS17-related" NARROW [] synonym: "Lens luxation" NARROW [] synonym: "Weill-Marchesani-like syndrome" EXACT [] synonym: "WMS4" EXACT [] synonym: "WMSL" EXACT [] xref: MESH:C567710 is_a: DOID:0050475 ! Weill-Marchesani syndrome [Term] id: DOID:9008509 name: Cone-Rod Dystrophy and Hearing Loss 2 def: "Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. CRDHL2 is caused by homozygous or compound heterozygous mutation in the CEP250 gene on chromosome 20q11.(OMIM)" [] synonym: "CEP250-RELATED CONDITION" EXACT [] synonym: "CRDHL2" EXACT [] xref: MIM:618358 xref: MONDO:0020780 is_a: DOID:9000732 ! Cone-Rod Dystrophy and Hearing Loss created_by: gthayman creation_date: 2019-03-15T16:52:11Z [Term] id: DOID:9008510 name: Chronic Hepatitis alt_id: RDO:0005781 def: "INFLAMMATION of the LIVER with ongoing hepatocellular injury for 6 months or more, characterized by NECROSIS of HEPATOCYTES and inflammatory cell (LEUKOCYTES) infiltration. Chronic hepatitis can be caused by viruses, medications, autoimmune diseases, and other unknown factors." [MESH:D006521] synonym: "chronic active hepatitis" EXACT [] synonym: "chronic persistent hepatitides" EXACT [] synonym: "chronic persistent hepatitis" EXACT [] synonym: "cryptogenic chronic hepatitis" EXACT [] xref: EFO:0008496 xref: MESH:D006521 is_a: DOID:2237 ! hepatitis [Term] id: DOID:9008511 name: Extravasation of Diagnostic and Therapeutic Materials def: "The escape of diagnostic or therapeutic material from the vessel into which it is introduced into the surrounding tissue or body cavity." [MESH:D005119] synonym: "Contrast Media Extravasation" EXACT [] synonym: "Extravasation of Contrast Media" EXACT [] synonym: "Extravasation of Diagnostic, Therapeutic Materials" EXACT [] xref: MESH:D005119 xref: RDO:0005553 is_a: DOID:9001600 ! Wounds and Injuries is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9008512 name: Craniomicromelic Syndrome alt_id: MIM:602558 xref: MESH:C566522 is_a: DOID:225 ! syndrome is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008513 name: Hoarseness def: "An unnaturally deep or rough quality of voice." [MESH:D006685] synonym: "Hoarsenesses" EXACT [] synonym: "Hoarseness of Voice" EXACT [] synonym: "Neurogenic Hoarseness" EXACT [] synonym: "Neurogenic Hoarsenesses" EXACT [] synonym: "Voice Hoarseness" EXACT [] xref: MESH:D006685 is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9004659 ! Respiration Disorders is_a: DOID:9006046 ! Voice Disorders [Term] id: DOID:9008514 name: Psychomotor Disorders def: "Abnormalities of motor function that are associated with organic and non-organic cognitive disorders." [MESH:D011596] synonym: "Developmental Psychomotor Disorder" EXACT [] synonym: "Developmental Psychomotor Disorders" EXACT [] synonym: "Psychomotor Impairment" EXACT [] synonym: "Psychomotor Impairments" EXACT [] xref: MESH:D011596 is_a: DOID:9002320 ! Neurobehavioral Manifestations [Term] id: DOID:9008515 name: Schweitzer Kemink Graham Syndrome synonym: "Conductive hearing loss, middle ear ossicular anomalies, malformed thickened lop auricles, and micrognathia" EXACT [] synonym: "Thickened earlobes with conductive deafness from incus-stapes abnormalities" EXACT [] xref: MESH:C536511 is_a: DOID:225 ! syndrome is_a: DOID:9003483 ! Conductive Hearing Loss is_a: DOID:9005616 ! Micrognathism [Term] id: DOID:9008516 name: Mixed Polyneuropathy of Early Onset alt_id: RDO:0013695 xref: MESH:C564879 is_a: DOID:10595 ! Charcot-Marie-Tooth disease [Term] id: DOID:9008517 name: Postoperative Hemorrhage def: "Hemorrhage following any surgical procedure. It may be immediate or delayed and is not restricted to the surgical wound." [MESH:D019106] synonym: "Postoperative Blood Loss" EXACT [] synonym: "Postoperative Hemorrhages" EXACT [] xref: MESH:D019106 is_a: DOID:9000790 ! Postoperative Complications is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9008518 name: Catamenial Pneumothorax alt_id: RDO:0004240 xref: MESH:C538279 is_a: DOID:1673 ! pneumothorax [Term] id: DOID:9008519 name: Polycystic Kidney, Cataract, and Congenital Blindness alt_id: MIM:263100 xref: MESH:C564882 is_a: DOID:0080322 ! polycystic kidney disease is_a: DOID:1432 ! blindness is_a: DOID:83 ! cataract [Term] id: DOID:9008520 name: Chronic Pain def: "Aching sensation that persists for more than a few months. It may or may not be associated with trauma or disease, and may persist after the initial injury has healed. Its localization, character, and timing are more vague than with acute pain." [MESH:D059350] synonym: "Chronic Pains" EXACT [] synonym: "multisite chronic pain" NARROW [] synonym: "Widespread Chronic Pain" NARROW [] synonym: "Widespread Chronic Pains" NARROW [] xref: EFO:0010099 xref: EFO:0010100 xref: MESH:D059350 is_a: DOID:9000641 ! Pain [Term] id: DOID:9008521 name: Basal Cell Carcinoma, Nonsyndromic xref: MESH:C567789 xref: RDO:0012042 is_a: DOID:2513 ! basal cell carcinoma [Term] id: DOID:9008522 name: Chromosome 9, Trisomy synonym: "Duplication 9" EXACT [] synonym: "Trisomy 9" EXACT [] xref: MESH:C538028 xref: NCI:C84282 xref: RDO:0003962 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9008523 name: Subretinal Fibrosis def: "Fibrosis of the subretinal space resulting from hemorrhage of abnormal blood vessels, which are created by macular degeneration-associated choroidal neovascularization." [] is_a: DOID:10873 ! Kuhnt-Junius degeneration is_a: DOID:9000784 ! Fibrosis created_by: rgd creation_date: 2015-10-30T00:00:00Z [Term] id: DOID:9008524 name: Odontoma Dysphagia Syndrome alt_id: MIM:164330 synonym: "Boder syndrome" EXACT [] synonym: "Odontomatosis (multiple odontomas) with dysphagia" EXACT [] xref: MESH:C537740 is_a: DOID:225 ! syndrome is_a: DOID:9000123 ! Deglutition Disorders is_a: DOID:9001598 ! Odontoma [Term] id: DOID:9008525 name: Respiratory Alkalosis def: "A state due to excess loss of carbon dioxide from the body. (Dorland, 27th ed)" [MESH:D000472] synonym: "respiratory alkaloses" EXACT [] xref: MESH:D000472 is_a: DOID:9006680 ! Hyperventilation is_a: DOID:9007331 ! Alkalosis [Term] id: DOID:9008526 name: Chromosome 7, Trisomy 7q synonym: "Duplication 7q" EXACT [] synonym: "Trisomy 7q" EXACT [] xref: MESH:C537821 xref: RDO:0003725 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9008527 name: Chlamydophila Infections alt_id: RDO:0006245 def: "Infections with bacteria of the genus CHLAMYDOPHILA." [MESH:D023521] synonym: "Chlamydophila Infection" EXACT [] synonym: "Chlamydophila infectious disease" EXACT [] xref: EFO:1000863 xref: MESH:D023521 is_a: DOID:9008090 ! Chlamydiaceae Infections [Term] id: DOID:9008528 name: Arene Oxide Detoxification Defect xref: MESH:C565043 xref: RDO:0013793 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9008529 name: Diffuse Cerebral Sclerosis, Scholz Type alt_id: MIM:302700 xref: MESH:C564449 xref: MONDO:0060456 is_a: DOID:10581 ! metachromatic leukodystrophy [Term] id: DOID:9008530 name: Chlorpropamide-Alcohol Flushing alt_id: MIM:118430 synonym: "Endemic Tyrolean Infantile Cirrhosis" EXACT [] xref: MESH:C566132 is_a: DOID:9007763 ! Flushing [Term] id: DOID:9008531 name: Daentl Towsend Siegel Syndrome alt_id: RDO:0001065 synonym: "Familial nephrosis, hydrocephalus, thin skin, blue sclerae syndrome" EXACT [] synonym: "Hydrocephalus blue sclera nephropathy" EXACT [] xref: MESH:C535768 is_a: DOID:10908 ! hydrocephalus is_a: DOID:11343 ! scleral disease is_a: DOID:225 ! syndrome is_a: DOID:2527 ! nephrosis [Term] id: DOID:9008532 name: Dens in Dente and Palatal Invaginations alt_id: MIM:125300 xref: MESH:C538211 is_a: DOID:9000440 ! Dens in Dente [Term] id: DOID:9008533 name: Plasminogen Activator Inhibitor-1 Deficiency alt_id: MIM:613329 synonym: "Hyperfibrinolysis Due To Pai1 Deficiency" EXACT [] xref: MESH:C567640 xref: NCI:C133884 xref: RDO:0015656 is_a: DOID:2213 ! hemorrhagic disease [Term] id: DOID:9008534 name: Progressive Supranuclear Palsy Atypical synonym: "Atypical PSP" EXACT [] synonym: "Parkinson-Dementia Syndrome" EXACT [] synonym: "STEELE-RICHARDSON-OLSZEWSKI SYNDROME, ATYPICAL" NARROW [] synonym: "SUPRANUCLEAR PALSY, PROGRESSIVE, 1, ATYPICAL" NARROW [] xref: MESH:C537240 xref: MIM:260540 xref: MONDO:0009839 is_a: DOID:14330 ! Parkinson's disease is_a: DOID:678 ! progressive supranuclear palsy [Term] id: DOID:9008535 name: Secretory Diarrhea, Myopathy, and Deafness alt_id: MIM:607540 xref: MESH:C564382 is_a: DOID:0050129 ! secretory diarrhea is_a: DOID:10907 ! microcephaly is_a: DOID:423 ! myopathy is_a: DOID:9001276 ! Failure to Thrive is_a: DOID:9008681 ! Deafness [Term] id: DOID:9008537 name: Polypoidal Choroidal Vasculopathy def: "A slow-growing, complex form of choroidal neovascularization which eventually causes subretinal hemorrhage and pigment epithelial detachment." [] synonym: "idiopathic polypoidal choroidal vasculopathy" EXACT [] synonym: "IPCV" EXACT [] synonym: "PCV" EXACT [] synonym: "polypoidal choroidal neovascularization" EXACT [] synonym: "polypoidal CNV" EXACT [] xref: MESH:D000092342 is_a: DOID:9001044 ! Choroidal Neovascularization [Term] id: DOID:9008538 name: Neisseriaceae Infections def: "Infections with bacteria of the family NEISSERIACEAE." [MESH:D016870] synonym: "Neisseriaceae Infection" EXACT [] xref: EFO:1001377 xref: MESH:D016870 xref: RDO:0005693 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9008539 name: Perinatal Death def: "The death of a FETUS of GESTATIONAL AGE 28 weeks or more, or the death of a live-born INFANT less than 28 days of age." [MESH:D066087] synonym: "Neonatal Death" EXACT [] synonym: "Neonatal Deaths" EXACT [] synonym: "Perinatal Deaths" EXACT [] xref: MESH:D066087 is_a: DOID:9000543 ! Death is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9008540 name: 46,XX Sex Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs synonym: "46 XX gonadal dysgenesis" EXACT [] synonym: "SERKAL" EXACT [] synonym: "SERKAL SYNDROME" EXACT [] synonym: "Sex Reversal, Female, with Dysgenesis of Kidneys, Adrenals, and Lungs" EXACT [] xref: MESH:C567517 xref: MIM:611812 is_a: DOID:0111760 ! 46,XX sex reversal is_a: DOID:557 ! kidney disease is_a: DOID:850 ! lung disease is_a: DOID:9007870 ! Respiratory System Abnormalities is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:9008541 name: Metatarsalgia def: "Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL JOINTS)." [MESH:D037061] xref: EFO:1001370 xref: MESH:D037061 is_a: DOID:381 ! arthropathy is_a: DOID:9000641 ! Pain is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:9008542 name: Rapidly Progressive Glomerulonephritis with Pulmonary Hemorrhage synonym: "Anti-glomerular basement membrane antibody disease" EXACT [] synonym: "Glomerulonephritis - pulmonary hemorrhage" EXACT [] synonym: "Pulmonary renal syndrome" EXACT [] xref: MESH:C538458 is_a: DOID:4776 ! rapidly progressive glomerulonephritis is_a: DOID:9003202 ! Pulmonary Hemorrhage [Term] id: DOID:9008543 name: Agnathia-Microstomia-Synotia synonym: "Agnathia, microstomia, synotia and cardiac and pulmonary maldevelopment" EXACT [] synonym: "Plurimalformative syndrome" EXACT [] xref: MESH:C538059 xref: MONDO:0021829 is_a: DOID:9000066 ! Jaw Abnormalities is_a: DOID:9008499 ! Microstomia [Term] id: DOID:9008544 name: 9q22.3 Microdeletion synonym: "9q22.3 Deletion" EXACT [] synonym: "9q22 Deletion Syndrome" EXACT [] synonym: "Microdeletion 9q22.3 Syndrome" EXACT [] xref: MESH:C579873 xref: RDO:0015858 is_a: DOID:0080014 ! chromosomal disease [Term] id: DOID:9008545 name: ATAXIA, PROGRESSIVE SEIZURES, MENTAL DETERIORATION, AND HEARING LOSS xref: RDO:9001284 is_a: DOID:1561 ! cognitive disorder is_a: DOID:1826 ! epilepsy is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9004866 ! Ataxia created_by: rgd creation_date: 2016-11-08T00:00:00Z [Term] id: DOID:9008546 name: Rodrigues Blindness alt_id: MIM:268320 synonym: "Microphthalmos, microcornea, and sclerocornea with short stature and hair and dental abnormalities" EXACT [] xref: MESH:C535865 is_a: DOID:1432 ! blindness is_a: DOID:421 ! hair disease is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9008547 name: Charcot-Marie-Tooth Disease Type 6B synonym: "CMT6B" EXACT [] synonym: "hereditary motor and sensory neuropathy type VIB" EXACT [] synonym: "hereditary motor and sensory neuropathy type VIB, with optic atrophy" EXACT [] synonym: "HMSN6B" EXACT [] synonym: "HMSN VIB" EXACT [] xref: EFO:0009075 xref: MIM:616505 is_a: DOID:0080068 ! Charcot-Marie-Tooth disease type 6 created_by: mtutaj creation_date: 2019-09-09T09:43:44Z [Term] id: DOID:9008548 name: Photoparoxysmal Response 1 alt_id: RDO:0007976 synonym: "PHOTOCONVULSIVE REACTION" EXACT [] synonym: "PHOTOSENSITIVITY" EXACT [] synonym: "PPR" EXACT [] synonym: "PPR1" EXACT [] xref: MIM:132100 is_a: DOID:0060281 ! photosensitive epilepsy [Term] id: DOID:9008549 name: Lipoprotein Glomerulopathy synonym: "APOE2 Isoforms" RELATED [] synonym: "APOE KYOTO" RELATED [] synonym: "APOE SENDAI" RELATED [] synonym: "LPG" EXACT [] xref: MESH:C567089 xref: MIM:611771 xref: MONDO:0012725 xref: ORDO:329481 is_a: DOID:557 ! kidney disease [Term] id: DOID:9008550 name: Vitamin A Deficiency def: "A nutritional condition produced by a deficiency of VITAMIN A in the diet, characterized by NIGHT BLINDNESS and other ocular manifestations such as dryness of the conjunctiva and later of the cornea (XEROPHTHALMIA). Vitamin A deficiency is a very common problem worldwide, particularly in developing countries as a consequence of famine or shortages of vitamin A-rich foods. In the United States it is found among the urban poor, the elderly, alcoholics, and patients with malabsorption. (From Cecil Textbook of Medicine, 19th ed, p1179)" [MESH:D014802] synonym: "Vitamin A Deficiencies" EXACT [] xref: EFO:1001237 xref: MESH:D014802 xref: RDO:0001619 is_a: DOID:9004644 ! Avitaminosis [Term] id: DOID:9008551 name: Flaviviridae Infections def: "Infections with viruses of the family FLAVIVIRIDAE." [MESH:D018178] synonym: "Flaviviridae Infection" EXACT [] synonym: "Flaviviridae infectious disease" EXACT [] xref: EFO:0007274 xref: MESH:D018178 is_a: DOID:9002150 ! RNA Virus Infections [Term] id: DOID:9008552 name: Subcortical Band Heterotopia, X-Linked xref: MESH:C564722 is_a: DOID:9008500 ! Classical Lissencephalies and Subcortical Band Heterotopias [Term] id: DOID:9008553 name: Urachal Adenocarcinoma synonym: "Adenocarcinoma of the urachus" EXACT [] xref: MESH:C536474 is_a: DOID:11054 ! urinary bladder cancer is_a: DOID:299 ! adenocarcinoma [Term] id: DOID:9008554 name: Tessadori-van Haaften Neurodevelopmental Syndrome synonym: "TEVANED" EXACT [] xref: MIM:PS619758 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2022-07-18T10:36:50Z [Term] id: DOID:9008556 name: Radio-Ulnar Synostosis Type 2 xref: MESH:C536269 is_a: DOID:11193 ! syndactyly is_a: DOID:9000067 ! Congenital Foot Deformities is_a: DOID:9004795 ! Congenital Hand Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008557 name: Single Umbilical Artery def: "Congenital abnormality where one, instead of the usual two, UMBILICAL ARTERY connects the fetus to the placenta." [MESH:D058529] synonym: "Single Umbilical Arteries" EXACT [] synonym: "Two Vessel Cord" EXACT [] synonym: "Two Vessel Cords" EXACT [] xref: MESH:D058529 xref: RDO:0007834 is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:9008558 name: MYOPATHY DUE TO MYOADENYLATE DEAMINASE DEFICIENCY def: "An autosomal recessive condition that can manifest as exercise-induced muscle pain, occasionally associated with rhabdomyolysis and/or increased serum creatine kinase, or even infantile hypotonia." [MIM:615511] synonym: "MMDD" EXACT [] synonym: "MUSCLE AMP DEAMINASE DEFICIENCY" EXACT [] synonym: "MYOADENYLATE DEAMINASE DEFICIENCY, MYOPATHY DUE TO" EXACT [] synonym: "MYOPATHY DUE TO AMPD1 DEFICIENCY" EXACT [] xref: MIM:615511 xref: NCI:C157504 is_a: DOID:423 ! myopathy is_a: DOID:9007712 ! Adenosine Monophosphate Deaminase Deficiency created_by: slaulede creation_date: 2019-07-15T13:30:56Z [Term] id: DOID:9008559 name: Bacterial Lung Diseases def: "Pulmonary diseases caused by bacterial infections." [] xref: RDO:9002453 is_a: DOID:104 ! bacterial infectious disease is_a: DOID:850 ! lung disease is_a: DOID:9008680 ! Respiratory Tract Infections created_by: rgd creation_date: 2017-10-03T00:00:00Z [Term] id: DOID:9008560 name: Pseudohyperkalemia, Familial, 2, due to Red Cell Leak alt_id: MIM:185020 alt_id: MIM:609153 synonym: "CHC" EXACT [] synonym: "Cryohydrocytosis" EXACT [] synonym: "CRYOHYDROCYTOSIS, MILD" EXACT [] synonym: "PSEUDOHYPERKALEMIA CARDIFF" EXACT [] synonym: "PSEUDOHYPERKALEMIA CHISWICK" EXACT [] synonym: "PSEUDOHYPERKALEMIA EAST LONDON" EXACT [] synonym: "PSEUDOHYPERKALEMIA FALKIRK" EXACT [] synonym: "Pseudohyperkalemia Lille" EXACT [] synonym: "PSHK2" EXACT [] synonym: "Stomatocytosis, cold-sensitive" EXACT [] xref: MESH:C535827 xref: MESH:C563785 is_a: DOID:9001961 ! Hyperkalemia [Term] id: DOID:9008561 name: Ventricular Septal Rupture def: "Laceration or tearing of the VENTRICULAR SEPTUM, usually caused by MYOCARDIAL INFARCTION." [MESH:D018658] synonym: "Ventricular Septal Perforation" EXACT [] synonym: "Ventricular Septal Ruptures" EXACT [] xref: MESH:D018658 xref: RDO:0007226 is_a: DOID:9003023 ! Heart Rupture, Post-Infarction [Term] id: DOID:9008562 name: Parotid Salivary Glands, Polycystic Disease of alt_id: MIM:600343 synonym: "PAROTID SALIVARY GLANDS, POLYCYSTIC DYSGENETIC DISEASE OF" EXACT [] synonym: "PDDP" EXACT [] xref: MESH:C563951 is_a: DOID:10854 ! salivary gland disease [Term] id: DOID:9008563 name: Charcot-Marie-Tooth Disease, Type 2A synonym: "Charcot-Marie-Tooth disease, axonal, Type 2A" EXACT [] synonym: "Charcot-Marie-Tooth disease, neuronal, Type 2A" EXACT [] synonym: "Hereditary motor and sensory neuropathy 2 A" EXACT [] synonym: "HMSN IIA" EXACT [] xref: MESH:C537988 is_a: DOID:0050539 ! Charcot-Marie-Tooth disease type 2 [Term] id: DOID:9008564 name: Retinal Dystrophy and Microvillus Inclusion Disease def: "Characterized by early-onset severe retinal dystrophy in association with intractable congenital diarrhea requiring total parenteral nutrition (TPN). Caused by homozygous mutation in the STX3 gene on chromosome 11q12. (OMIM)" [MIM:619446] synonym: "RDMVID" EXACT [] xref: MIM:619446 is_a: DOID:0060775 ! microvillus inclusion disease is_a: DOID:8501 ! fundus dystrophy created_by: mtutaj creation_date: 2021-07-27T12:47:48Z [Term] id: DOID:9008565 name: Congenital Heart Defects, Multiple Types xref: EFO:0600032 is_a: DOID:1682 ! congenital heart disease created_by: mtutaj creation_date: 2020-02-18T11:31:49Z [Term] id: DOID:9008566 name: CHA Heavy Chain Disease Protein, Human synonym: "gamma heavy chain disease protein CHA, human" EXACT [] xref: MESH:C483999 is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:9008567 name: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES, WITH OR WITHOUT SEIZURES def: "This is a neurodevelopmental disorder characterized by variably impaired skill acquisition apparent from infancy or early childhood. Affected individuals have predominant language delay with mild fine and gross motor deficits. Most patients have mild to moderately impaired intellectual development and behavioral abnormalities, including aggression, hyperactivity, and autism spectrum disorder." [MIM:619964] synonym: "ARFGEF1-RELATED CONDITION" EXACT [] synonym: "DEDISB" EXACT [] xref: MIM:619964 is_a: DOID:150 ! disease of mental health is_a: DOID:1826 ! epilepsy is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:92 ! speech disorder created_by: slaulede creation_date: 2022-12-06T11:17:27Z [Term] id: DOID:9008568 name: Camptodactyly Syndrome Guadalajara Type 2 alt_id: MIM:211920 synonym: "camptodactyly syndrome, Guadalajara type II" EXACT [] xref: GARD:1068 xref: MESH:C537971 is_a: DOID:0080016 ! spina bifida is_a: DOID:9002231 ! Fetal Growth Retardation is_a: DOID:9003133 ! Hypertelorism is_a: DOID:9005560 ! Congenital Hip Dislocation is_a: DOID:9008731 ! Craniofacial Abnormalities is_a: DOID:9008935 ! Camptodactyly Syndrome Guadalajara Type [Term] id: DOID:9008569 name: Bronchial Spasm def: "Spasmodic contraction of the smooth muscle of the bronchi." [MESH:D001986] synonym: "bronchial spasms" EXACT [] synonym: "bronchospasm" EXACT [] synonym: "bronchospasms" EXACT [] xref: MESH:D001986 is_a: DOID:1176 ! bronchial disease [Term] id: DOID:9008570 name: Gardner-Diamond Syndrome alt_id: RDO:0000880 synonym: "autoerythrocyte sensitization" EXACT [] synonym: "psychogenic purpura" EXACT [] xref: MESH:C535645 is_a: DOID:1766 ! factitious disorder is_a: DOID:225 ! syndrome is_a: DOID:2468 ! psychotic disorder is_a: DOID:417 ! autoimmune disease is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:9008571 name: Cone Dystrophy 4 alt_id: MIM:613093 synonym: "ACHM5" NARROW [] synonym: "ACHROMATOPSIA 5" NARROW [] synonym: "COD4" EXACT [] synonym: "PDE6C-RELATED CONDITION" EXACT [] xref: MESH:C567758 is_a: DOID:0050795 ! cone dystrophy is_a: DOID:10584 ! retinitis pigmentosa [Term] id: DOID:9008572 name: Novak Syndrome alt_id: MIM:215800 synonym: "laryngotracheoesophageal cleft pulmonary hypoplasia" EXACT [] synonym: "posterior cleft larynx" EXACT [] xref: MESH:C537851 is_a: DOID:225 ! syndrome is_a: DOID:3225 ! tracheal disease is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008573 name: Vector Borne Diseases def: "Infectious diseases transmitted by DISEASE VECTORS." [MESH:D000079426] synonym: "Vector-Borne Diseases" EXACT [] synonym: "Vectorborne Diseases" EXACT [] xref: MESH:D000079426 is_a: DOID:0050117 ! disease by infectious agent created_by: slaulede creation_date: 2020-02-07T14:49:46Z [Term] id: DOID:9008574 name: Tamari Goodman Syndrome synonym: "Congenital heart disease radio ulnar synostos mental retardation" EXACT [] synonym: "Upper limb cardiovascular syndromes" EXACT [] xref: MESH:C536896 xref: RDO:0002614 is_a: DOID:1059 ! intellectual disability is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome is_a: DOID:2477 ! motor peripheral neuropathy is_a: DOID:9004402 ! Congenital Upper Extremity Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008575 name: Olmsted Syndrome 2 def: "Mutilating hyperkeratotic skin lesions, primarily on the palms and soles, but also extending onto dorsal surfaces of the hands and feet and distal extremities, caused by heterozygous mutation in the PERP gene on chromosome 6q23. (OMIM)" [] synonym: "mutilating palmoplantar keratoderma with periorificial keratotic plaques 2" EXACT [] synonym: "OLMS2" EXACT [] synonym: "PPKM2" EXACT [] xref: MIM:619208 is_a: DOID:0112011 ! mutilating palmoplantar keratoderma with periorificial keratotic plaques created_by: mtutaj creation_date: 2021-03-01T14:43:03Z [Term] id: DOID:9008576 name: Wilms Tumor 2 alt_id: MIM:194071 synonym: "familial Wilms tumor 2" EXACT [] synonym: "WT2" EXACT [] xref: EFO:1000056 xref: MESH:C536853 is_a: DOID:2154 ! nephroblastoma [Term] id: DOID:9008577 name: Factor V Excess with Spontaneous Thrombosis alt_id: MIM:134400 synonym: "PROACCELERIN EXCESS" EXACT [] synonym: "THROMBOPHILIA WITH ELEVATED FACTOR V" EXACT [] xref: MESH:C565026 is_a: DOID:2452 ! thrombophilia [Term] id: DOID:9008578 name: Microcephaly, Short Stature, and Impaired Glucose Metabolism synonym: "MSSGM" EXACT [] is_a: DOID:10907 ! microcephaly is_a: DOID:4194 ! glucose metabolism disease is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007661 ! Dwarfism created_by: rgd creation_date: 2017-05-09T00:00:00Z [Term] id: DOID:9008580 name: Circoviridae Infections alt_id: RDO:0007091 def: "Virus diseases caused by the CIRCOVIRIDAE." [MESH:D018173] synonym: "Circoviridae Infection" EXACT [] synonym: "Circoviridae infectious disease" EXACT [] synonym: "Circovirus Infection" EXACT [] synonym: "Circovirus Infections" EXACT [] xref: EFO:1001292 xref: MESH:D018173 is_a: DOID:9000251 ! DNA Virus Infections [Term] id: DOID:9008581 name: CAKUT3 synonym: "CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT 3" EXACT [] synonym: "NRIP1-RELATED CONDITION" EXACT [] xref: MIM:618270 is_a: DOID:0080205 ! CAKUT created_by: mtutaj creation_date: 2019-02-12T10:52:29Z [Term] id: DOID:9008582 name: Developmental Disease def: "Mental or physical disorders that usually manifest during the equivalent of human childhood or teenage years." [] subset: RGD_JBrowse_slim synonym: "developmental disorder" EXACT [] synonym: "development diseases" EXACT [] is_a: DOID:4 ! disease created_by: rgd creation_date: 2016-09-02T00:00:00Z [Term] id: DOID:9008583 name: Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis alt_id: MIM:246500 xref: MESH:C565440 is_a: DOID:10123 ! pigmentation disease is_a: DOID:1059 ! intellectual disability is_a: DOID:13714 ! anodontia is_a: DOID:4535 ! hypotrichosis is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007168 ! Genetic Skin Diseases [Term] id: DOID:9008584 name: Yersinia Pseudotuberculosis Infections def: "Infections with bacteria of the species YERSINIA PSEUDOTUBERCULOSIS." [MESH:D015012] synonym: "Pasteurella Pseudotuberculoses" EXACT [] synonym: "Pasteurella Pseudotuberculosis" EXACT [] synonym: "Yersinia pseudotuberculosis infectious disease" EXACT [] xref: EFO:1001246 xref: MESH:D015012 is_a: DOID:9003800 ! Yersinia Infections [Term] id: DOID:9008585 name: Congenital Myasthenic Syndrome, with Facial Dysmorphism, associated with Acetylcholine Receptor Deficiency xref: MESH:C563829 xref: RDO:0012988 is_a: DOID:3635 ! congenital myasthenic syndrome is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008586 name: Tooth Avulsion def: "Partial or complete displacement of a tooth from its alveolar support. It is commonly the result of trauma. (From Boucher's Clinical Dental Terminology, 4th ed, p312)" [MESH:D014084] synonym: "Avulsed Tooth" EXACT [] synonym: "Tooth Avulsions" EXACT [] synonym: "Tooth Dislocation" EXACT [] synonym: "Tooth Dislocations" EXACT [] synonym: "Tooth Luxation" EXACT [] synonym: "Tooth Luxations" EXACT [] xref: MESH:D014084 is_a: DOID:9003584 ! Tooth Injuries [Term] id: DOID:9008587 name: Mycoplasmatales Infections def: "Infections with bacteria of the order MYCOPLASMATALES." [MESH:D009180] synonym: "Mycoplasmatales Infection" EXACT [] xref: EFO:1001374 xref: MESH:D009180 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9008588 name: Zellweger Syndrome 2 xref: RDO:9000707 is_a: DOID:905 ! Zellweger syndrome [Term] id: DOID:9008589 name: Hallux Valgus def: "Lateral displacement of the great toe (HALLUX), producing deformity of the first METATARSOPHALANGEAL JOINT with callous, bursa, or bunion formation over the bony prominence." [MESH:D006215] synonym: "Hallux Abductovalgus" EXACT [] xref: MESH:D006215 xref: RDO:0005710 is_a: DOID:9003938 ! Foot Deformities [Term] id: DOID:9008590 name: Cor Triatriatum def: "A malformation of the heart in which the embryonic common PULMONARY VEIN was not incorporated into the LEFT ATRIUM leaving behind a perforated fibromuscular membrane bisecting the left atrium, a three-atrium heart. The opening between the two left atrium sections determines the degree of obstruction to pulmonary venous return, pulmonary venous and pulmonary arterial hypertension." [MESH:D003310] synonym: "Cor Triatriatum Sinistrum" EXACT [] synonym: "Subdivided Left Atrium" EXACT [] synonym: "Subdivided Left Atriums" EXACT [] synonym: "Triatrial Heart" EXACT [] synonym: "Triatrial Hearts" EXACT [] xref: MESH:D003310 is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9008591 name: Setting-Sun Phenomenon, Familial Benign alt_id: MIM:600598 xref: MESH:C563470 is_a: DOID:1279 ! ocular motility disease [Term] id: DOID:9008592 name: Familial Angiolipomatosis alt_id: MIM:206550 synonym: "angiolipoma microthromboticum" EXACT [] xref: MESH:C565951 is_a: DOID:3616 ! angiolipoma [Term] id: DOID:9008593 name: Sinus Pericranii def: "Rare vascular anomaly involving a communication between the intracranial and extracranial venous circulation via diploe, the central spongy layer of cranial bone. It is often characterized by dilated venous structures on the scalp due to abnormal drainage from the intracranial venous sinuses. Sinus pericranii can be congenital or traumatic in origin." [MESH:D020779] xref: MESH:D020779 is_a: DOID:9003443 ! Central Nervous System Vascular Malformations [Term] id: DOID:9008594 name: Familial Subependymomas xref: MESH:C538553 xref: RDO:0004493 is_a: DOID:4843 ! subependymal glioma [Term] id: DOID:9008595 name: Brain Abscess def: "A circumscribed collection of purulent exudate in the brain, due to bacterial and other infections. The majority are caused by spread of infected material from a focus of suppuration elsewhere in the body, notably the PARANASAL SINUSES, middle ear (see EAR, MIDDLE); HEART (see also ENDOCARDITIS, BACTERIAL), and LUNG. Penetrating CRANIOCEREBRAL TRAUMA and NEUROSURGICAL PROCEDURES may also be associated with this condition. Clinical manifestations include HEADACHE; SEIZURES; focal neurologic deficits; and alterations of consciousness. (Adams et al., Principles of Neurology, 6th ed, pp712-6)" [MESH:D001922] synonym: "Brain Abscesses" EXACT [] synonym: "Cerebral Abscess" EXACT [] synonym: "Cerebral Abscesses" EXACT [] synonym: "Child Brain Abscess" EXACT [] synonym: "Multiple Brain Abscess" EXACT [] synonym: "Multiple Brain Abscesses" EXACT [] synonym: "Pyogenic Brain Abscess" EXACT [] synonym: "Pyogenic Brain Abscesses" EXACT [] synonym: "Sterile Brain Abscess" EXACT [] synonym: "Sterile Brain Abscesses" EXACT [] xref: MESH:D001922 is_a: DOID:9000025 ! Central Nervous System Infections is_a: DOID:9000325 ! Abscess is_a: DOID:936 ! brain disease [Term] id: DOID:9008596 name: Baker-Gordon Syndrome def: "A neurodevelopmental disorder characterized by infantile hypotonia, ophthalmic abnormalities, moderate to profound global developmental delay, poor or absent speech, behavioral abnormalities, hyperkinetic movements, and EEG abnormalities in the absence of overt seizures. (OMIM)" [MIM:618218] synonym: "BAGOS" EXACT [] synonym: "NEDIMAE" EXACT [] synonym: "neurodevelopmental disorder with involuntary movement and abnormal electroencephalogram" EXACT [] xref: MIM:618218 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2019-01-10T18:10:58Z [Term] id: DOID:9008598 name: Traumatic Intracranial Hemorrhage def: "Bleeding within the SKULL induced by penetrating and nonpenetrating traumatic injuries, including hemorrhages into the tissues of CEREBRUM; BRAIN STEM; and CEREBELLUM; as well as into the epidural, subdural and subarachnoid spaces of the MENINGES." [MESH:D020198] synonym: "Traumatic Intracranial Hematoma" EXACT [] synonym: "Traumatic Intracranial Hematomas" EXACT [] synonym: "Traumatic Intracranial Hemorrhages" EXACT [] xref: MESH:D020198 is_a: DOID:9003104 ! Intracranial Hemorrhages is_a: DOID:9007621 ! Craniocerebral Trauma [Term] id: DOID:9008599 name: Optic Atrophy, Deafness, Ophthalmoplegia, and Myopathy xref: MESH:C565117 xref: RDO:0013845 is_a: DOID:0080000 ! muscular disease is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9005850 ! Hereditary Optic Atrophies [Term] id: DOID:9008600 name: Chromosome 6, Deletion 6q13 q15 synonym: "Deletion 6q13 q15" EXACT [] synonym: "Monosomy 6q13 q15" EXACT [] xref: MESH:C537764 xref: RDO:0003662 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9008601 name: Neurodevelopmental Disorder with Hypotonia, Microcephaly, and Seizures def: "Autosomal recessive disorder characterized by global developmental delay with axial hypotonia, inability to sit or walk, and severely impaired intellectual development with absent language. (OMIM)" [] synonym: "NEDHYMS" EXACT [] xref: MIM:618862 is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: mtutaj creation_date: 2020-06-16T13:02:41Z [Term] id: DOID:9008602 name: Alcohol Amnestic Disorder def: "A mental disorder associated with chronic ethanol abuse (ALCOHOLISM) and nutritional deficiencies characterized by short term memory loss, confabulations, and disturbances of attention. (Adams et al., Principles of Neurology, 6th ed, p1139)" [MESH:D000425] synonym: "Alcohol Amnestic Disorders" EXACT [] synonym: "Alcohol Amnestic Syndrome" EXACT [] synonym: "Alcohol Amnestic Syndromes" EXACT [] synonym: "Alcoholic Korsakoff Syndrome" EXACT [] synonym: "Alcoholic Korsakoff Syndromes" EXACT [] synonym: "Alcohol-Induced Amnestic Psychoses" EXACT [] synonym: "Alcohol Induced Amnestic Psychosis" EXACT [] synonym: "Alcohol Induced Amnestic Syndrome" EXACT [] synonym: "Alcohol-Induced Amnestic Syndromes" EXACT [] synonym: "Alcohol-Induced Dysmnesic Psychoses" EXACT [] synonym: "Alcohol Induced Dysmnesic Psychosis" EXACT [] synonym: "Alcohol Induced Dysmnesic Syndrome" EXACT [] synonym: "Alcohol-Induced Dysmnesic Syndromes" EXACT [] synonym: "Alcohol Induced Korsakoff Syndrome" EXACT [] synonym: "Alcohol-Induced Korsakoff Syndromes" EXACT [] synonym: "Alcohol Induced Persisting Amnestic Disorder" EXACT [] xref: EFO:1001759 xref: MESH:D000425 xref: RDO:0004589 is_a: DOID:10914 ! amnestic disorder is_a: DOID:9004354 ! Alcohol-Related Disorders is_a: DOID:9007727 ! Alcohol-Induced Disorders, Nervous System [Term] id: DOID:9008603 name: Rhabdoviridae Infections def: "Virus diseases caused by RHABDOVIRIDAE. Important infections include RABIES; EPHEMERAL FEVER; and vesicular stomatitis." [MESH:D018353] synonym: "Rhabdoviridae Infection" EXACT [] xref: EFO:0007469 xref: MESH:D018353 xref: RDO:0005503 is_a: DOID:9007829 ! Mononegavirales Infections [Term] id: DOID:9008604 name: Radiation Pneumonitis def: "Inflammation of the lung due to harmful effects of ionizing or non-ionizing radiation." [MESH:D017564] synonym: "Radiation Fibrosis" EXACT [] synonym: "Radiation Pneumonia" EXACT [] synonym: "Radiation Pneumonias" EXACT [] synonym: "Radiation Pneumonitides" EXACT [] xref: EFO:1001411 xref: MESH:D017564 is_a: DOID:3082 ! interstitial lung disease is_a: DOID:9000111 ! Radiation Injuries is_a: DOID:9000310 ! Lung Injury [Term] id: DOID:9008605 name: Hyperparathyroidism 3 synonym: "HRPT3" EXACT [] xref: MESH:C566450 xref: MIM:610071 xref: MONDO:0012406 is_a: DOID:9009250 ! Familial Isolated Hyperparathyroidism [Term] id: DOID:9008606 name: Corneal Opacity def: "Disorder occurring in the central or peripheral area of the cornea. The usual degree of transparency becomes relatively opaque." [MESH:D003318] synonym: "Corneal Opacities" EXACT [] synonym: "Leukoma" EXACT [] synonym: "Leukomas" EXACT [] xref: MESH:D003318 is_a: DOID:10124 ! corneal disease [Term] id: DOID:9008607 name: Prostatic Malacoplakia associated with Prostatic Abscess synonym: "Prostatic malacoplakia with prostatic and seminal vesicle abscess" EXACT [] xref: MESH:C537244 is_a: DOID:9004625 ! Malacoplakia [Term] id: DOID:9008609 name: Endotoxin-Induced Uveitis def: "An anterior uveitis caused by lipopolysacharride. May be experimentally induced in animals by systemic injection of bacterial lipopolysacharride." [] synonym: "EIU" EXACT [] is_a: DOID:9001606 ! Acute Anterior Uveitis [Term] id: DOID:9008610 name: Keratitis Fugax Hereditaria alt_id: MIM:148200 synonym: "Keratoendotheliitis Fugax Hereditaria" EXACT [] xref: MESH:C563650 xref: MONDO:0007849 is_a: DOID:4677 ! keratitis [Term] id: DOID:9008611 name: Infundibulopelvic Dysgenesis alt_id: MIM:600989 xref: MESH:C535528 is_a: DOID:557 ! kidney disease is_a: DOID:9001627 ! Pathologic Constriction [Term] id: DOID:9008612 name: Connective and Soft Tissue Neoplasms def: "Neoplasms developing from some structure of the connective and subcutaneous tissue. The concept does not refer to neoplasms located in connective or soft tissue." [MESH:D018204] xref: MESH:D018204 is_a: DOID:9002052 ! Neoplasms by Histologic Type [Term] id: DOID:9008613 name: Cataract, Variable Zonular Pulverulent xref: MESH:C565132 is_a: DOID:83 ! cataract [Term] id: DOID:9008614 name: Cardiovascular Pregnancy Complications def: "The co-occurrence of pregnancy and a cardiovascular disease. The disease may precede or follow FERTILIZATION and it may or may not have a deleterious effect on the pregnant woman or FETUS." [MESH:D011249] synonym: "cardiovascular complications pregnancies" EXACT [] synonym: "Cardiovascular Pregnancy Complication" EXACT [] xref: MESH:D011249 is_a: DOID:1287 ! cardiovascular system disease is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9008615 name: Familial Thoracic Aortic Aneurysm 1 alt_id: MIM:607086 synonym: "AAT1" EXACT [] synonym: "Annuloaortic Ectasia" EXACT [] synonym: "Erdheim cystic medial necrosis of aorta" NARROW [] synonym: "FAA1" EXACT [] synonym: "Familial Aortic Aneurysm" EXACT [] synonym: "Familial Aortic Dissection" EXACT [] synonym: "Familial Taad" EXACT [] synonym: "Familial Thoracic Aortic Aneurysm" EXACT [] synonym: "familial thoracic aortic aneurysm and dissection" EXACT [] synonym: "thoracic aortic aneurysm" EXACT [] xref: MESH:C562834 is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:9008616 name: Patent Ductus Venosus alt_id: MIM:601466 synonym: "Portosystemic Venous Shunt, Congenital" EXACT [] xref: MESH:C562830 is_a: DOID:9003191 ! Vascular Malformations [Term] id: DOID:9008617 name: Lethargy def: "A general state of sluggishness, listless, or uninterested, with being tired, and having difficulty concentrating and doing simple tasks. It may be related to DEPRESSION or DRUG ADDICTION." [MESH:D053609] xref: MESH:D053609 is_a: DOID:9002320 ! Neurobehavioral Manifestations [Term] id: DOID:9008620 name: Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome alt_id: MIM:214350 synonym: "CHANDS" EXACT [] synonym: "CHAND syndrome" EXACT [] xref: MESH:C538074 is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:530 ! eyelid disease is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9008621 name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND BRAIN ATROPHY def: "This disease is an autosomal recessive disorder characterized by early-onset progressive myoclonus epilepsy with ataxia." [MIM:619971] synonym: "NEDEBA" EXACT [] xref: MIM:619971 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9004462 ! Atrophy created_by: slaulede creation_date: 2022-12-13T12:46:45Z [Term] id: DOID:9008622 name: Adrenal Insufficiency def: "Conditions in which the production of adrenal CORTICOSTEROIDS falls below the requirement of the body. Adrenal insufficiency can be caused by defects in the ADRENAL GLANDS, the PITUITARY GLAND, or the HYPOTHALAMUS." [MESH:D000309] synonym: "Adrenal Gland Hypofunction" EXACT [] synonym: "Adrenal Insufficiencies" EXACT [] synonym: "ADRENAL INSUFFICIENCY, NR5A1-RELATED" NARROW [] synonym: "Hypoadrenalism" EXACT [] xref: MESH:D000309 xref: RDO:0000918 is_a: DOID:9553 ! adrenal gland disease [Term] id: DOID:9008623 name: Neurofibromatosis-Pheochromocytoma-Duodenal Carcinoid Syndrome alt_id: MIM:162240 synonym: "duodenal carcinoid syndrome" EXACT [] synonym: "NPDC syndrome" EXACT [] xref: MESH:C563522 is_a: DOID:0050771 ! pheochromocytoma is_a: DOID:8712 ! neurofibromatosis is_a: DOID:9000256 ! Duodenal Neoplasms is_a: DOID:9000362 ! Adrenal Gland Neoplasms is_a: DOID:9007787 ! Carcinoid Tumor [Term] id: DOID:9008624 name: Aortico-Ventricular Tunnel def: "Congenital anomaly characterized by an extra-cardiac channel connecting the AORTA either to the right or left HEART VENTRICLE. (MESH)" [] synonym: "Aortic-Left Ventricular Tunnel" EXACT [] synonym: "Aortico-Left Ventricular Tunnel" EXACT [] synonym: "Aortico-Right Ventricular Tunnel" EXACT [] synonym: "Aorticoventricular Tunnel" EXACT [] synonym: "Aortic-Right Ventricular Tunnel" EXACT [] synonym: "Aortic-Ventricular Tunnel" EXACT [] synonym: "Aorto-Left Ventricular Tunnel" EXACT [] synonym: "Aorto-Right Ventricular Tunnel" EXACT [] synonym: "Aorto-Ventricular Tunnel" EXACT [] synonym: "Aortoventricular Tunnel" EXACT [] xref: MESH:D000082903 is_a: DOID:1682 ! congenital heart disease created_by: mtutaj creation_date: 2020-12-21T20:13:58Z [Term] id: DOID:9008625 name: Somatosensory Disorders def: "Disorders of sensory information received from superficial and deep regions of the body. The somatosensory system conveys neural impulses which pertain to proprioception, tactile sensation, thermal sensation, pressure sensation, and pain. PERIPHERAL NERVOUS SYSTEM DISEASES; SPINAL CORD DISEASES; and BRAIN DISEASES may be associated with impaired or abnormal somatic sensation." [MESH:D020886] synonym: "Light Touch Sensation Impairment" EXACT [] synonym: "Pain Sensation Diminished" EXACT [] synonym: "Pain Sensation Diminisheds" EXACT [] synonym: "Pinprick Sensation Diminished" EXACT [] synonym: "Pinprick Sensation Diminisheds" EXACT [] synonym: "Position Sense Disorder" EXACT [] synonym: "Position Sense Disorders" EXACT [] synonym: "Proprioceptive Disorder" EXACT [] synonym: "Proprioceptive Disorders" EXACT [] synonym: "Somatic Sensation Disorder" EXACT [] synonym: "Somatic Sensation Disorders" EXACT [] synonym: "Somatosensory Disorder" EXACT [] synonym: "Thermal Sensation Disorder" EXACT [] synonym: "Thermal Sensation Disorders" EXACT [] xref: MESH:D020886 is_a: DOID:0050155 ! sensory system disease [Term] id: DOID:9008626 name: Spastic Paraplegia 91, Autosomal Dominant, with or without Cerebellar Ataxia def: "A highly variable neurologic disorder characterized by early-onset gait abnormalities due to spastic paraplegia of the lower limbs, sometimes with cerebellar ataxia. Caused by heterozygous mutation in the SPTAN1 gene on chromosome 9q34." [MIM:620538] synonym: "SPG91" EXACT [] xref: MIM:620538 is_a: DOID:2476 ! hereditary spastic paraplegia created_by: tutajm creation_date: 2023-10-24T12:59:33Z [Term] id: DOID:9008627 name: Severe Congenital Neutropenia 10 def: "Infantile onset of neutropenia, which may be associated with bacterial infections, including skin abscesses. Caused by compound heterozygous mutation in the SRP68 gene on chromosome 17q25." [] synonym: "Neutropenia, severe congenital, 10, autosomal recessive" EXACT [] synonym: "SCN10" EXACT [] xref: MIM:620534 is_a: DOID:0050590 ! severe congenital neutropenia created_by: mtutaj creation_date: 2023-10-09T10:19:25Z [Term] id: DOID:9008628 name: Familial Thoracic Aortic Aneurysm 12 def: "A familial thoracic aortic aneurysm caused by heterozygous mutation in the THSD4 gene on chromosome 15q23." [MIM:619825] synonym: "AAT12" EXACT [] xref: MIM:619825 is_a: DOID:14004 ! thoracic aortic aneurysm created_by: mtutaj creation_date: 2022-04-11T09:58:23Z [Term] id: DOID:9008629 name: Vagus Nerve Injuries def: "Traumatic injuries to the VAGUS NERVE. Because the vagus nerve innervates multiple organs, injuries in the nerve fibers may result in any gastrointestinal organ dysfunction downstream of the injury site." [MESH:D061223] synonym: "Cranial Nerve X Injury" EXACT [] synonym: "Tenth Cranial Nerve Injuries" EXACT [] synonym: "Tenth Cranial Nerve Injury" EXACT [] synonym: "Tenth Nerve Trauma" EXACT [] synonym: "Tenth-Nerve Traumas" EXACT [] synonym: "Traumatic Tenth-Nerve Palsies" EXACT [] synonym: "Traumatic Tenth Nerve Palsy" EXACT [] synonym: "Traumatic Vagus Neuropathies" EXACT [] synonym: "Traumatic Vagus Neuropathy" EXACT [] synonym: "Vagus Nerve Avulsion" EXACT [] synonym: "Vagus Nerve Avulsions" EXACT [] synonym: "Vagus Nerve Contusion" EXACT [] synonym: "Vagus Nerve Contusions" EXACT [] synonym: "Vagus Nerve Injury" EXACT [] synonym: "Vagus Nerve Transection" EXACT [] synonym: "Vagus Nerve Transections" EXACT [] synonym: "Vagus Nerve Trauma" EXACT [] synonym: "Vagus Nerve Traumas" EXACT [] xref: MESH:D061223 xref: RDO:0010060 is_a: DOID:12491 ! Vagus nerve disease is_a: DOID:9000598 ! Cranial Nerve Injuries [Term] id: DOID:9008631 name: progressive myoclonus epilepsy 5 def: "This disease is a neurological disorder characterized by early-onset progressive ataxia associated with myoclonic seizures, generalized tonic-clonic seizures (which are often sleep-related), and sometimes mild intellectual disability." [ORPHA:402082] synonym: "EPM5" EXACT [] synonym: "PME type 5" EXACT [] synonym: "PROGRESSIVE MYOCLONIC EPILEPSY TYPE 5" EXACT [] synonym: "Progressive myoclonus epilepsy type 5" EXACT [] is_a: DOID:891 ! progressive myoclonus epilepsy created_by: slaulede creation_date: 2023-05-08T15:18:46Z [Term] id: DOID:9008632 name: gastrointestinal toxicity def: "This is toxicity that causes injury to the gastrointestinal tract or damages its function. It can be caused by exposure to xenobiotics such as drugs, food additives, alcohol, chlorinated solvents, peroxidized fatty acids, fungal toxins, radioactive isotopes, environmental toxicants, and even some medicinal plants." [EFO:0011050] xref: EFO:0011050 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions created_by: slaulede creation_date: 2023-01-23T16:49:21Z [Term] id: DOID:9008633 name: Congenital Torticollis alt_id: MIM:189600 synonym: "Congenital muscular torticollis" EXACT [] synonym: "Familial spasmodic torticollis" EXACT [] synonym: "Familial torticollis" EXACT [] xref: MESH:C535425 is_a: DOID:0050840 ! cervical dystonia [Term] id: DOID:9008634 name: Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome alt_id: MIM:215250 xref: MESH:C565852 is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:225 ! syndrome is_a: DOID:2914 ! immune system disease is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9008635 name: Cholesterol Pneumonia alt_id: MIM:215030 synonym: "Familiaere Cholesterin-Pneumonie" EXACT [] xref: MESH:C535937 is_a: DOID:13580 ! cholestasis is_a: DOID:552 ! pneumonia [Term] id: DOID:9008636 name: Cornea Guttata with Anterior Polar Cataract alt_id: MIM:121390 synonym: "Cornea Guttata with Anterior Polar Cataracts" EXACT [] synonym: "Familial congenital cornea guttata with anterior polar cataracts" EXACT [] xref: MESH:C535471 is_a: DOID:11555 ! Fuchs' endothelial dystrophy is_a: DOID:83 ! cataract [Term] id: DOID:9008637 name: fulminant type 1 diabetes def: "This is a subtype of idiopathic type 1 diabetes in which the process of β-cell destruction and the progression of hyperglycemia and ketoacidosis are extremely rapid." [EFO:0009758, PMID:17179928] xref: EFO:0009758 is_a: DOID:9744 ! type 1 diabetes mellitus created_by: slaulede creation_date: 2023-01-26T17:01:33Z [Term] id: DOID:9008638 name: Anticholinergic Syndrome def: "Adverse drug effects associated with CHOLINERGIC ANTAGONISTS. Clinical features include TACHYCARDIA; HYPERTHERMIA; MYDRIASIS, dry skin and dry mucous membranes, decreased bowel sounds and urinary retention in peripheral anticholinergic syndrome; and HALLUCINATIONS; PSYCHOSES; SEIZURES; and COMA in central anticholinergic syndrome." [MESH:D064807] synonym: "Anticholinergic Syndromes" EXACT [] synonym: "Central Anticholinergic Syndrome" EXACT [] synonym: "Central Anticholinergic Syndromes" EXACT [] synonym: "Peripheral Anticholinergic Syndrome" EXACT [] synonym: "Peripheral Anticholinergic Syndromes" EXACT [] xref: MESH:D064807 is_a: DOID:225 ! syndrome is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions [Term] id: DOID:9008639 name: Catatonia def: "A neuropsychiatric disorder characterized by one or more of the following essential features: immobility, mutism, negativism (active or passive refusal to follow commands), mannerisms, stereotypies, posturing, grimacing, excitement, echolalia, echopraxia, muscular rigidity, and stupor; sometimes punctuated by sudden violent outbursts, panic, or hallucinations. This condition may be associated with psychiatric illnesses (e.g., SCHIZOPHRENIA; MOOD DISORDERS) or organic disorders (NEUROLEPTIC MALIGNANT SYNDROME; ENCEPHALITIS, etc.). (From DSM-IV, 4th ed, 1994; APA, Thesaurus of Psychological Index Terms, 1994)" [MESH:D002389] synonym: "Catatonias" EXACT [] synonym: "Lethal Catatonia" EXACT [] synonym: "Lethal Catatonias" EXACT [] synonym: "Malignant Catatonia" EXACT [] synonym: "Malignant Catatonias" EXACT [] synonym: "Organic Catatonia" EXACT [] synonym: "Organic Catatonias" EXACT [] synonym: "Organic Catatonic Disorder" EXACT [] synonym: "Organic Catatonic Disorders" EXACT [] synonym: "Schizophreniform Catatonia" EXACT [] synonym: "Schizophreniform Catatonias" EXACT [] xref: MESH:D002389 is_a: DOID:9002320 ! Neurobehavioral Manifestations [Term] id: DOID:9008640 name: Capillary Malformation-Arteriovenous Malformation 1 synonym: "CMAVM1" EXACT [] xref: MIM:608354 is_a: DOID:9005469 ! Capillary Malformation-Arteriovenous Malformation created_by: mtutaj creation_date: 2019-03-21T00:00:00Z [Term] id: DOID:9008641 name: Pancreaticobiliary Maljunction def: "A group of anatomical variations in which the COMMON BILE DUCT and MAIN PANCREATIC DUCT are joined outside the duodenal wall often with abnormally long common channel rather than at the SPHINCTER OF ODDI." [MESH:D000080222] synonym: "Anomalous Pancreaticobiliary Ductal Union" EXACT [] synonym: "Anomalous Pancreaticobiliary Junction" EXACT [] synonym: "Anomalous Pancreaticobiliary Junctions" EXACT [] xref: MESH:D000080222 is_a: DOID:4137 ! common bile duct disease is_a: DOID:9001683 ! Digestive System Abnormalities created_by: slaulede creation_date: 2020-02-07T10:27:02Z [Term] id: DOID:9008642 name: Progeria Short Stature Pigmented Nevi alt_id: MIM:176690 synonym: "Mulvihill-Smith Syndrome" EXACT [] synonym: "Progeroid Short Stature with Pigmented Nevi" EXACT [] xref: MESH:C536422 is_a: DOID:3911 ! progeria is_a: DOID:9005120 ! Pigmented Nevus is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9008643 name: Vesicular Exanthema of Swine def: "A calicivirus infection of swine characterized by hydropic degeneration of the oral and cutaneous epithelia." [MESH:D014720] synonym: "Swine Vesicular Exanthema" EXACT [] synonym: "Swine Vesicular Exanthemas" EXACT [] xref: MESH:D014720 is_a: DOID:9006923 ! Caliciviridae Infections is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9008644 name: Dysmenorrhea def: "Painful menstruation." [MESH:D004412] synonym: "Dysmenorrheas" EXACT [] synonym: "Menstrual Pain" EXACT [] synonym: "Menstrual Pains" EXACT [] synonym: "Painful Menstruation" EXACT [] synonym: "Painful Menstruations" EXACT [] xref: MESH:D004412 is_a: DOID:9004918 ! Menstruation Disturbances is_a: DOID:9008450 ! Pelvic Pain [Term] id: DOID:9008645 name: Aurocephalosyndactyly alt_id: MIM:109050 synonym: "Auralcephalosyndactyly" EXACT [] xref: MESH:C566235 is_a: DOID:11193 ! syndactyly is_a: DOID:2340 ! craniosynostosis [Term] id: DOID:9008646 name: Dowling-Degos Disease 3 synonym: "DDD3" EXACT [] xref: MIM:615674 is_a: DOID:0060256 ! Dowling-Degos disease created_by: rgd creation_date: 2017-12-07T00:00:00Z [Term] id: DOID:9008647 name: Myoclonic Epilepsy, Hartung Type alt_id: MIM:159600 xref: MESH:C563550 is_a: DOID:9005154 ! Myoclonic Epilepsies [Term] id: DOID:9008648 name: Thrombocytopenia 4 alt_id: MIM:612004 synonym: "THC4" EXACT [] synonym: "Thrombocytopenia, Autosomal Dominant, 4" EXACT [] xref: MESH:C567438 is_a: DOID:1588 ! thrombocytopenia [Term] id: DOID:9008650 name: Ulnar Agenesis and Endocardial Fibroelastosis alt_id: MIM:276822 xref: MESH:C564756 is_a: DOID:12929 ! endocardial fibroelastosis [Term] id: DOID:9008651 name: reproductive system neoplasm def: "This is a benign or malignant, primary or metastatic neoplasm affecting the male and female reproductive system" [NCI:C3674] synonym: "neoplasm of the reproductive system" EXACT [] synonym: "reproductive neoplasm" EXACT [] synonym: "reproductive system tumor" EXACT [] synonym: "reproductive tumor" EXACT [] synonym: "tumor of the reproductive system" EXACT [] xref: EFO:1000051 is_a: DOID:15 ! reproductive system disease is_a: DOID:9007150 ! Urogenital Neoplasms created_by: slaulede creation_date: 2022-09-13T10:57:20Z [Term] id: DOID:9008652 name: Postoperative Atrial Fibrillation def: "Abnormal cardiac rhythm that is characterized by rapid, uncoordinated firing of electrical impulses in the upper chambers of the heart (HEART ATRIA) following cardiac surgery." [] synonym: "POAF" EXACT [] is_a: DOID:0060224 ! atrial fibrillation is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9008653 name: Selective Tooth Agenesis 4 alt_id: MIM:150400 alt_id: RDO:0012841 synonym: "Lateral Incisors, Absence of" EXACT [] synonym: "Lateral Incisors, Pegged or Missing" EXACT [] synonym: "STHAG4" EXACT [] synonym: "Succedaneous Teeth, Agenesis Of" EXACT [] synonym: "TOOTH AGENESIS, SELECTIVE, 4, WITH OR WITHOUT ECTODERMAL DYSPLASIA" EXACT [] xref: MESH:C563634 is_a: DOID:0050591 ! tooth agenesis [Term] id: DOID:9008654 name: FLIEDNER-ZWEIER SYNDROME def: "This disease is a neurodevelopmental disorder characterized by variable manifestations including mild intellectual disability, seizures, behavioral abnormalities, and various skeletal and structural anomalies." [MIM:620511] synonym: "FZS" EXACT [] xref: MIM:620511 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2023-11-07T14:00:22Z [Term] id: DOID:9008655 name: Gorlin Bushkell Jensen Syndrome xref: MESH:C537289 is_a: DOID:0050449 ! pachyonychia congenita is_a: DOID:225 ! syndrome is_a: DOID:9000648 ! Malformed Nails is_a: DOID:9002315 ! Kidney Calculi [Term] id: DOID:9008656 name: 10p Deletion Syndrome (partial) alt_id: RDO:0004250 synonym: "Chromosome 10, 10p- Partial" EXACT [] synonym: "Chromosome 10, monosomy 10p" EXACT [] synonym: "chromosome 10, partial deletion (short arm)" EXACT [] synonym: "monosomy 10p" EXACT [] xref: MESH:C538288 is_a: DOID:0060388 ! chromosomal deletion syndrome [Term] id: DOID:9008657 name: Urinary Tract Abnormalities def: "Malformations of the urinary tract (renal tubules and renal pelvis of the kidney, the ureters, the bladder, and the urethra) during development in utero." [] synonym: "Anomalies of the Urinary Tract" EXACT [] xref: RDO:9000033 is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9008658 name: Nasopharyngeal Teratoma with Dandy Walker Diaphragmatic Hernia synonym: "Aughton Sloan Milad syndrome" EXACT [] xref: MESH:C538340 is_a: DOID:2785 ! Dandy-Walker syndrome is_a: DOID:3307 ! teratoma is_a: DOID:3827 ! congenital diaphragmatic hernia is_a: DOID:9005207 ! Nasopharyngeal Neoplasms is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008660 name: Infantile Capillary Hemangioma alt_id: MIM:602089 synonym: "capillary infantile hemangioma, susceptibility to" RELATED [] synonym: "HCI" EXACT [] synonym: "hereditary capillary hemangioma" EXACT [] xref: MESH:C535860 is_a: DOID:2725 ! capillary hemangioma is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9008662 name: Hereditary Congenital Facial Paresis 3 alt_id: RDO:9000299 synonym: "HCFP3" EXACT [] xref: MIM:614744 is_a: DOID:9001799 ! Hereditary Congenital Facial Paresis [Term] id: DOID:9008663 name: Infantile Liver Failure Syndrome 3 synonym: "ILFS3" EXACT [] xref: MIM:618641 is_a: DOID:0080716 ! infantile liver failure syndrome created_by: mtutaj creation_date: 2019-10-25T10:46:25Z [Term] id: DOID:9008665 name: Specific Learning Disorder def: "Diagnosed when there are specific deficits in an individual’s ability to perceive or process information efficiently and accurately. This disorder first manifests during the years of formal schooling and is characterized by persistent and impairing difficulties with learning foundational academic skills in reading, writing, and/or math. The individual’s performance of the affected academic skills is well below average for age, or acceptable performance levels are achieved only with extraordinary effort. Specific learning disorder may occur in individuals identified as intellectually gifted and manifest only when the learning demands or assessment procedures (e.g., timed tests) pose barriers that cannot be overcome by their innate intelligence and compensatory strategies. For all individuals, specific learning disorder can produce lifelong impairments in activities dependent on the skills, including occupational performance. (from DSM-V)" [MESH:D000067559] synonym: "Specific Learning Disorders" EXACT [] xref: MESH:D000067559 xref: RDO:0016032 is_a: DOID:8927 ! learning disability [Term] id: DOID:9008666 name: Trisomy 18-Like Syndrome alt_id: MIM:601161 xref: MESH:C563382 is_a: DOID:0080014 ! chromosomal disease is_a: DOID:225 ! syndrome is_a: DOID:9003960 ! Trisomy is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008667 name: Myoclonic Epilepsy of Lafora 2 def: "A myoclonic epilepsy of Lafora caused by homozygous or compound heterozygous mutation in the NHLRC1 gene, which encodes malin, on chromosome 6p22." [MIM:620681] synonym: "EPM2B" EXACT [] synonym: "Lafora disease 2" EXACT [] synonym: "MELF2" EXACT [] synonym: "progressive myoclonic epilepsy 2B" EXACT [] xref: MIM:620681 is_a: DOID:3534 ! Lafora disease created_by: tutajm creation_date: 2024-01-31T09:31:52Z [Term] id: DOID:9008668 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 3 synonym: "PFBMFT3" EXACT [] synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 3" EXACT [] xref: MIM:616373 is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related [Term] id: DOID:9008669 name: Glucocorticoid Receptor Deficiency synonym: "Body Composition, Beneficial" EXACT [] synonym: "Cortisol Resistance from Glucocorticoid Receptor Defect" EXACT [] synonym: "GCCR" EXACT [] synonym: "GCCR Deficiency" EXACT [] synonym: "GCR Deficiency" EXACT [] synonym: "Glucocorticoid Resistance" EXACT [] synonym: "GLUCOCORTICOID RESISTANCE, CELLULAR" EXACT [] synonym: "GLUCOCORTICOID RESISTANCE, GENERALIZED" EXACT [] synonym: "Glucocorticoid Resistance, Relative" EXACT [] synonym: "GRL Deficiency" EXACT [] synonym: "Pseudohermaphroditism, Female, With Hypokalemia, Due To Glucocorticoid Resistance" EXACT [] xref: MESH:C564221 xref: MIM:615962 xref: MONDO:0014421 xref: NCI:C126809 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9008670 name: Combined Inflammatory and Immunologic Defect xref: MESH:C565684 xref: RDO:0014254 is_a: DOID:612 ! primary immunodeficiency disease [Term] id: DOID:9008671 name: T-Lymphocytopenia xref: MESH:C536783 is_a: DOID:614 ! lymphopenia [Term] id: DOID:9008672 name: Anterior Capsular Rupture, Ocular def: "A breach in the continuity of the ANTERIOR CHAMBER of the eyeball." [MESH:D057971] xref: MESH:D057971 xref: RDO:0007808 is_a: DOID:9006447 ! Eye Injuries [Term] id: DOID:9008673 name: Diamond-Blackfan Anemia with Microtia and Cleft Palate xref: MESH:C565256 xref: RDO:0013949 is_a: DOID:1339 ! Diamond-Blackfan anemia is_a: DOID:674 ! cleft palate is_a: DOID:9001502 ! Congenital Microtia [Term] id: DOID:9008674 name: Thoracic Dysplasia-Hydrocephalus Syndrome alt_id: MIM:273730 xref: MESH:C564774 is_a: DOID:10908 ! hydrocephalus is_a: DOID:225 ! syndrome is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9008675 name: Dyskinesias def: "Abnormal involuntary movements which primarily affect the extremities, trunk, or jaw that occur as a manifestation of an underlying disease process. Conditions which feature recurrent or persistent episodes of dyskinesia as a primary manifestation of disease may be referred to as dyskinesia syndromes (see MOVEMENT DISORDERS). Dyskinesias are also a relatively common manifestation of BASAL GANGLIA DISEASES." [MESH:D020820] synonym: "Abnormal Movement" EXACT [] synonym: "abnormal movements" EXACT [] synonym: "Asterixis" EXACT [] synonym: "Ballismus" EXACT [] synonym: "Dyskinesia" EXACT [] synonym: "Hemiballism" EXACT [] synonym: "Hemiballismus" EXACT [] synonym: "Involuntary Movement" EXACT [] synonym: "Involuntary Movements" EXACT [] synonym: "Linguofacial Dyskinesia" RELATED [] synonym: "Linguofacial Dyskinesias" NARROW [] synonym: "Oral facial Dyskinesia" NARROW [] synonym: "Oral-facial Dyskinesias" NARROW [] synonym: "Orofacial Dyskinesia" NARROW [] synonym: "Orofacial Dyskinesias" NARROW [] synonym: "Tardive Oral Dyskinesia" NARROW [] synonym: "tardive oral dyskinesias" NARROW [] xref: MESH:D020820 is_a: DOID:480 ! movement disease is_a: DOID:9003814 ! Neurologic Manifestations [Term] id: DOID:9008676 name: Hexosaminidase A Deficiency, Adult Type xref: MESH:C564783 is_a: DOID:3320 ! Tay-Sachs disease [Term] id: DOID:9008677 name: Foveal Hypoplasia 3 def: "This disease is an autosomal recessive disorder characterized by reduced vision and absent foveal light reflex on funduscopy; absence of the foveal pit is confirmed on optical coherence tomography. Infantile nystagmus is present in most patients." [MIM:620958] synonym: "FVH3" EXACT [] synonym: "INFANTILE NYSTAGMUS WITH FOVEAL HYPOPLASIA" EXACT [] xref: MIM:620958 is_a: DOID:9001923 ! Foveal Hypoplasia created_by: tutajm creation_date: 2024-10-03T14:37:08Z [Term] id: DOID:9008678 name: Epidermolysis Bullosa Simplex 2E with Migratory Circinate Erythema alt_id: MIM:609352 synonym: "EBS2E" EXACT [] synonym: "epidermolysis bullosa simplex with migratory circinate erythema" EXACT [] xref: MESH:C563730 is_a: DOID:4644 ! epidermolysis bullosa simplex is_a: DOID:9006976 ! Erythema [Term] id: DOID:9008679 name: Posterior Column Ataxia with Retinitis Pigmentosa alt_id: MIM:609033 synonym: "AXPC1" EXACT [] synonym: "PCARP" EXACT [] xref: MESH:C536343 is_a: DOID:10584 ! retinitis pigmentosa is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9008680 name: Respiratory Tract Infections def: "Invasion of the host RESPIRATORY SYSTEM by microorganisms, usually leading to pathological processes or diseases." [MESH:D012141] synonym: "Respiratory Infections" EXACT [] synonym: "Respiratory Infection, Upper" EXACT [] synonym: "Respiratory Tract Infection" EXACT [] synonym: "Upper Respiratory Infections" EXACT [] synonym: "Upper Respiratory Tract Infections" EXACT [] xref: MESH:D012141 xref: RDO:0000329 is_a: DOID:1579 ! respiratory system disease [Term] id: DOID:9008681 name: Deafness def: "A general term for the complete loss of the ability to hear from both ears." [MESH:D003638] synonym: "Acquired Deafness" EXACT [] synonym: "Bilateral Deafness" EXACT [] synonym: "Complete Hearing Loss" EXACT [] synonym: "Deaf Mutism" EXACT [] synonym: "DEAFNESS WITH ANATOMICAL INNER EAR ANOMALIES" NARROW [] synonym: "Extreme Hearing Loss" EXACT [] synonym: "Prelingual Deafness" EXACT [] xref: EFO:0001063 xref: MESH:D003638 xref: NCI:C27644 is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9008682 name: Velopharyngeal Insufficiency alt_id: MIM:167500 def: "Failure of the SOFT PALATE to reach the posterior pharyngeal wall to close the opening between the oral and nasal cavities. Incomplete velopharyngeal closure is primarily related to surgeries (ADENOIDECTOMY; CLEFT PALATE) or an incompetent PALATOPHARYNGEAL SPHINCTER. It is characterized by hypernasal speech." [MESH:D014681] synonym: "Inadequate Velopharyngeal Closure" EXACT [] synonym: "Palatopharyngeal Incompetence" EXACT [] synonym: "Velopharyngeal Closures, Inadequate" EXACT [] synonym: "Velopharyngeal Incompetence" EXACT [] xref: MESH:D014681 is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9004130 ! Pharyngeal Diseases [Term] id: DOID:9008683 name: polysubstance abuse def: "This is a multiple substance-related disorder that involves a maladaptive pattern of substance use leading to significant impairment in functioning. It features the recurring misuse or abuse of two or more drugs in combination despite negative consequences." [https://www.verywellhealth.com/polysubstance-abuse-5212228, PMID:25671013] synonym: "multiple substance abuse" EXACT [] xref: PMID:14870957 is_a: DOID:302 ! substance abuse created_by: slaulederkind creation_date: 2024-02-23T17:12:55Z [Term] id: DOID:9008684 name: Symphalangism of Toes xref: MESH:C566101 xref: MIM:185600 xref: MONDO:0008506 is_a: DOID:11971 ! synostosis is_a: DOID:227 ! ankylosis [Term] id: DOID:9008685 name: Idiopathic Basal Ganglia Calcification 9 def: "This disease is characterized by a combination of features including ataxia, parkinsonism, headache, and psychiatric and cognitive deficits." [MIM:620786] synonym: "BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE" EXACT [] synonym: "IBGC9" EXACT [] xref: MIM:620786 is_a: DOID:0060230 ! basal ganglia calcification created_by: slaulederkind creation_date: 2024-05-09T15:39:04Z [Term] id: DOID:9008686 name: Odontoonychodermal Dysplasia alt_id: MIM:257980 synonym: "ECTD16" EXACT [] synonym: "ectodermal dysplasia 16, hypo- or hyperhidrotic/hair/tooth/nail type" EXACT [] synonym: "OODD" EXACT [] xref: MESH:C537742 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9001034 ! Odontodysplasia [Term] id: DOID:9008688 name: Podocyte Diseases def: "A set of diseases affecting the podocytes of the kidney glomerulus, that may or may not be inflammatory." [] xref: RDO:9000075 is_a: DOID:9000104 ! Glomerular Diseases [Term] id: DOID:9008689 name: Facial Hypertrichosis alt_id: MIM:134000 xref: MESH:C565029 is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9008690 name: Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails xref: MESH:C563941 xref: MIM:600399 xref: MONDO:0010883 is_a: DOID:4123 ! nail disease is_a: DOID:9001510 ! Funnel Chest is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9008691 name: Liver Injury def: "Damage to any part of the liver caused by physical, chemical, or biological agents which characteristically elicit inflammatory reaction" [] xref: RDO:9000017 is_a: DOID:409 ! liver disease [Term] id: DOID:9008692 name: Aneuploidy def: "The chromosomal constitution of cells which deviate from the normal by the addition or subtraction of CHROMOSOMES, chromosome pairs, or chromosome fragments. In a normally diploid cell (DIPLOIDY) the loss of a chromosome pair is termed nullisomy (symbol: 2N-2), the loss of a single chromosome is MONOSOMY (symbol: 2N-1), the addition of a chromosome pair is tetrasomy (symbol: 2N+2), the addition of a single chromosome is TRISOMY (symbol: 2N+1)." [MESH:D000782] synonym: "Aneuploid" EXACT [] synonym: "Aneuploid Cell" EXACT [] synonym: "Aneuploid Cells" EXACT [] synonym: "Aneuploidies" EXACT [] synonym: "Aneuploids" EXACT [] xref: MESH:D000782 xref: RDO:0000372 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9008693 name: Familial Atrial Fibrillation 11 alt_id: RDO:9000187 synonym: "ATFB11" EXACT [] xref: MIM:614049 is_a: DOID:0050650 ! familial atrial fibrillation [Term] id: DOID:9008694 name: Irresistible Sleepiness, Cataplexy and Onset of Sleep in Desynchronized Phase xref: MESH:C538497 is_a: DOID:8986 ! narcolepsy [Term] id: DOID:9008695 name: Agenesis of Cervical Vertebrae alt_id: MIM:214290 xref: MESH:C562952 is_a: DOID:1934 ! dysostosis [Term] id: DOID:9008696 name: Selective Tooth Agenesis with Orofacial Cleft alt_id: RDO:0015184 xref: MESH:C566994 is_a: DOID:0050591 ! tooth agenesis is_a: DOID:674 ! cleft palate is_a: DOID:9296 ! cleft lip [Term] id: DOID:9008697 name: Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia alt_id: MIM:248910 xref: MESH:C536033 is_a: DOID:3663 ! cutaneous mastocytosis is_a: DOID:9001502 ! Congenital Microtia is_a: DOID:9003483 ! Conductive Hearing Loss [Term] id: DOID:9008698 name: NEURODEVELOPMENTAL DISORDER WITH GAIT DISTURBANCE, DYSMORPHIC FACIES, AND BEHAVIORAL ABNORMALITIES, X-LINKED def: "This disease is an X-linked dominant disorder characterized by global developmental delay with hypotonia, motor delay, impaired intellectual development, and speech and language delay. Affected individuals also have dysmorphic facial features, gastrointestinal issues, and ocular anomalies." [MIM:301094] synonym: "Hijazi-Reis syndrome" EXACT [] synonym: "HIJRS" EXACT [] synonym: "NEDGFAX" EXACT [] synonym: "X-linked neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities" EXACT [] xref: MIM:301094 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9006230 ! Neurologic Gait Disorders created_by: slaulede creation_date: 2023-05-02T10:12:59Z [Term] id: DOID:9008699 name: Ermine Phenotype alt_id: MIM:227010 synonym: "Cutaneous albinism hermine phenotype" EXACT [] synonym: "O'Doherty syndrome" EXACT [] synonym: "Pigmentary disorder with hearing loss" EXACT [] xref: MESH:C535508 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:3263 ! piebaldism [Term] id: DOID:9008700 name: Familial Lipochrome Histiocytosis alt_id: MIM:235900 xref: MESH:C562738 is_a: DOID:3405 ! histiocytosis is_a: DOID:630 ! genetic disease [Term] id: DOID:9008701 name: Ameloonychohypohidrotic Syndrome alt_id: MIM:104570 synonym: "Hypocalcified-hypoplastic enamel, onycholysis with subungual hyperkeratosis, and hypohidrosis" EXACT [] xref: MESH:C538245 is_a: DOID:11155 ! hypohidrosis is_a: DOID:225 ! syndrome is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:9000648 ! Malformed Nails [Term] id: DOID:9008702 name: Idiopathic Basal Ganglia Calcification, Childhood Onset alt_id: MIM:114100 synonym: "bilateral striopallidodentate calcinosis, childhood onset" EXACT [] synonym: "IBGC, childhood onset" EXACT [] synonym: "idiopathic nonarteriosclerotic cerebral calcification, childhood onset" EXACT [] xref: MESH:C536276 is_a: DOID:0060230 ! basal ganglia calcification [Term] id: DOID:9008703 name: Tryptophanuria with Dwarfism alt_id: MIM:276100 xref: MESH:C562658 is_a: DOID:1059 ! intellectual disability is_a: DOID:9004866 ! Ataxia is_a: DOID:9007661 ! Dwarfism is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9008704 name: Microtia with Nasolacrimal Duct Imperforation and Eye Coloboma alt_id: MIM:611863 xref: MESH:C567512 xref: RDO:0015572 is_a: DOID:12270 ! coloboma is_a: DOID:9001502 ! Congenital Microtia [Term] id: DOID:9008705 name: Angiotensin I-Converting Enzyme, Benign Serum Increase xref: RDO:9000700 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9008706 name: Menke-Hennekam Syndrome xref: MIM:PS618332 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: mtutaj creation_date: 2019-03-27T09:41:55Z [Term] id: DOID:9008707 name: Viremia def: "The presence of viruses in the blood." [MESH:D014766] synonym: "Viremias" EXACT [] xref: MESH:D014766 is_a: DOID:9004484 ! Sepsis is_a: DOID:934 ! viral infectious disease [Term] id: DOID:9008708 name: Rasmussen Subacute Encephalitis synonym: "Subacute focal encephalitis of Rasmussen" EXACT [] xref: MESH:C535291 xref: NCI:C125384 is_a: DOID:9005372 ! Inflammation is_a: DOID:9588 ! encephalitis [Term] id: DOID:9008709 name: Senior-Loken Syndrome 6 alt_id: MIM:610189 synonym: "SLSN6" EXACT [] xref: MESH:C565708 is_a: DOID:0050576 ! Senior-Loken syndrome [Term] id: DOID:9008710 name: Xeroderma Pigmentosum, Autosomal Dominant, Mild alt_id: MIM:194400 xref: MESH:C565989 is_a: DOID:0050427 ! xeroderma pigmentosum [Term] id: DOID:9008711 name: Dilated Cardiomyopathy 2K def: "A severe form of autosomal recessive CMD, characterized by predominantly left ventricular involvement, although patients with biventricular disease have been observed. Caused by homozygous or compound heterozygous mutation within the GRINL1A complex transcription unit on chromosome 15q21, affecting the MYZAP and or GCOM1 genes." [MIM:620894] synonym: "CMD2K" EXACT [] xref: MIM:620894 is_a: DOID:12930 ! dilated cardiomyopathy created_by: tutajm creation_date: 2024-07-17T18:45:33Z [Term] id: DOID:9008712 name: Young Hughes Syndrome synonym: "Sex-linked mental retardation, short stature, obesity and hypogonadism" EXACT [] xref: MESH:C536715 xref: RDO:0002376 is_a: DOID:1059 ! intellectual disability is_a: DOID:1924 ! hypogonadism is_a: DOID:225 ! syndrome is_a: DOID:9003307 ! Sex Chromosome Aberrations is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9970 ! obesity [Term] id: DOID:9008713 name: Malignant Mixed Tumor def: "A malignant tumor composed of more than one type of neoplastic tissue. (Dorland, 27th ed)" [] synonym: "Malignant chondroid syringoma" EXACT [] synonym: "Malignant mixed salivary gland tumor" EXACT [] synonym: "Malignant Mixed Tumors" EXACT [] synonym: "Mixed tumor, malignant" EXACT [] synonym: "Mixed tumor, salivary gland type, malignant" EXACT [] xref: EFO:1000356 xref: MESH:D018198 is_a: DOID:9003765 ! Complex and Mixed Neoplasms [Term] id: DOID:9008714 name: Fetal Hydantoin Syndrome synonym: "Dilantin Embryopathy" EXACT [] synonym: "Phenytoin Embryopathy" EXACT [] xref: MESH:C537922 xref: RDO:0003839 is_a: DOID:225 ! syndrome is_a: DOID:9007828 ! Abnormalities, Drug-Induced [Term] id: DOID:9008716 name: Familial Progressive Scleroderma synonym: "CREST syndrome" NARROW [] synonym: "systemic sclerosis, susceptibility to" RELATED [] xref: MIM:181750 is_a: DOID:418 ! systemic scleroderma [Term] id: DOID:9008717 name: Rib Fractures def: "Fractures of any of the RIBS." [MESH:D012253] synonym: "Rib Fracture" EXACT [] xref: EFO:0009620 xref: MESH:D012253 xref: RDO:0006501 is_a: DOID:9001954 ! Thoracic Injuries is_a: DOID:9002589 ! Bone Fractures [Term] id: DOID:9008718 name: Puerperal Infection def: "An infection occurring in PUERPERIUM, the period of 6-8 weeks after giving birth." [MESH:D011645] synonym: "Puerperal Infections" EXACT [] xref: EFO:1001407 xref: MESH:D011645 xref: RDO:0006435 is_a: DOID:9001791 ! Puerperal Disorders is_a: DOID:9008808 ! Pregnancy Complications, Infectious [Term] id: DOID:9008719 name: Craniosynostosis-Mental Retardation Syndrome of Lin and Gettig alt_id: MIM:218649 xref: MESH:C565664 is_a: DOID:1059 ! intellectual disability is_a: DOID:2340 ! craniosynostosis is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008720 name: Stoelinga-de Koomen-Davis Syndrome synonym: "Multiple non-erupting teeth, maxillo-zygomatical hypoplasia and other congenital defects" EXACT [] synonym: "Non erupted teeth with maxillary hypoplasia and genu valgum" EXACT [] xref: MESH:C537496 xref: MONDO:0010104 xref: ORDO:2972 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008214 ! Genu Valgum [Term] id: DOID:9008721 name: Muscular Dystrophy, Mabry Type alt_id: MIM:310000 alt_id: RDO:0013169 xref: MESH:C564096 is_a: DOID:9884 ! muscular dystrophy [Term] id: DOID:9008722 name: Mastodynia def: "Pain in the breast generally classified as cyclical (associated with menstrual periods), or noncyclical, i.e. originating from the breast or nearby muscles or joints, ranging from minor discomfort to severely incapacitating." [MESH:D059373] synonym: "Breast Pain" EXACT [] synonym: "Breast Pains" EXACT [] synonym: "Mammalgia" EXACT [] synonym: "Mammalgias" EXACT [] synonym: "Mastalgia" EXACT [] synonym: "Mastalgias" EXACT [] synonym: "Mastodynias" EXACT [] xref: EFO:1001366 xref: MESH:D059373 is_a: DOID:9000641 ! Pain [Term] id: DOID:9008724 name: Skull Base Neoplasms alt_id: DOID:3842 def: "Neoplasms of the base of the skull specifically, differentiated from neoplasms of unspecified sites or bones of the skull (SKULL NEOPLASMS)." [] synonym: "skull base neoplasm" EXACT [] synonym: "skull base neoplasms" EXACT [] synonym: "tumors of skull base" EXACT [] xref: MESH:D019292 is_a: DOID:9001331 ! Skull Neoplasms created_by: rgd creation_date: 2017-12-06T00:00:00Z [Term] id: DOID:9008726 name: Neoplasm Micrometastasis def: "Newly arising secondary tumors so small they are difficult to detect by physical examination or routine imaging techniques." [MESH:D061206] synonym: "Micrometastases" EXACT [] synonym: "Micrometastasis" EXACT [] synonym: "Neoplasm Micrometastase" EXACT [] synonym: "Neoplasm Micrometastases" EXACT [] xref: EFO:0009710 xref: MESH:D061206 xref: RDO:0010054 is_a: DOID:9000965 ! Neoplasm Metastasis [Term] id: DOID:9008727 name: Ige Responsiveness, Atopic alt_id: MIM:147050 synonym: "ATOPIC HYPERSENSITIVITY" NARROW [] synonym: "Atopy, Resistance to" EXACT [] synonym: "ATOPY, SUSCEPTIBILITY TO" NARROW [] synonym: "IgE, Elevated Level of" RELATED [] synonym: "IGEL" EXACT [] synonym: "IgE, LEVEL OF" EXACT [] synonym: "IGER" EXACT [] synonym: "Ige Response Underlying Allergic Asthma and Rhinitis" EXACT [] synonym: "IgE RESPONSE UNDERLYING ALLERGIC ASTHMA AND RHINITIS IgE, ELEVATED LEVEL OF" NARROW [] synonym: "Immunoglobulin E, Basic Level of, in Serum" EXACT [] xref: MESH:C564133 xref: RDO:0013192 is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:9008728 name: PREMATURE OVARIAN FAILURE 24 def: "This disease is characterized by the development of secondary amenorrhea in the fourth decade of life, with a dearth of antral follicles detected on ultrasound." [MIM:620840] synonym: "POF24" EXACT [] synonym: "primary ovarian insufficiency 24" EXACT [] xref: MIM:620840 is_a: DOID:9002679 ! Premature Ovarian Failure, Familial created_by: slaulederkind creation_date: 2024-06-17T12:23:32Z [Term] id: DOID:9008730 name: Infectious Canine Hepatitis def: "A contagious disease caused by canine adenovirus (ADENOVIRUSES, CANINE) infecting the LIVER, the EYE, the KIDNEY, and other organs in dogs, other canids, and bears. Symptoms include FEVER; EDEMA; VOMITING; and DIARRHEA." [MESH:D006522] synonym: "Canine Infectious Hepatitides" EXACT [] xref: MESH:D006522 is_a: DOID:9000873 ! Adenoviridae Infections is_a: DOID:9006855 ! Dog Diseases is_a: DOID:9007899 ! Animal Viral Hepatitis [Term] id: DOID:9008731 name: Craniofacial Abnormalities def: "Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones." [MESH:D019465] synonym: "Craniofacial Abnormality" EXACT [] xref: MESH:D019465 is_a: DOID:9005004 ! Musculoskeletal Abnormalities [Term] id: DOID:9008732 name: Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23 def: "A disease characterized by slowly progressive proximal muscle weakness primarily affecting the lower limbs and resulting in gait difficulties. Additional features include white matter abnormalities on brain imaging, increased serum creatine kinase, and dystrophic features." [MIM:618138] synonym: "Autosomal Recessive Limb-Girdle Muscular Dystrophy 23" EXACT [] synonym: "LGMDR23" EXACT [] xref: MIM:618138 is_a: DOID:0110274 ! autosomal recessive limb-girdle muscular dystrophy created_by: slaulede creation_date: 2018-11-09T16:42:15Z [Term] id: DOID:9008733 name: Obesity, Hyperphagia, and Developmental Delay alt_id: MIM:613886 synonym: "NTRK2-RELATED CONDITION" BROAD [] synonym: "OBHD" EXACT [] xref: MESH:C563938 is_a: DOID:9002916 ! Hyperphagia is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9970 ! obesity [Term] id: DOID:9008734 name: Immunodeficiency 121 with autoinflammation def: "A complex immunologic disorder characterized clinically by T-, B-, NK+/- severe combined immunodeficiency (SCID) associated with failure to thrive, erythrodermia, diarrhea, and alopecia. Caused by heterozygous mutation in the PSMB10 gene on chromosome 16q22." [MIM:620807] synonym: "IMD121" EXACT [] xref: MIM:620807 is_a: DOID:612 ! primary immunodeficiency disease created_by: tutajm creation_date: 2024-07-08T16:33:39Z [Term] id: DOID:9008735 name: Developmental Dysplasia of the Hip 3 def: "A disease characterized by an acetabulum with significantly decreased volume, which increases local stress on the articular surface and causes instability of the hip joint, with pain, disability, and eventually osteoarthritis of the joint. Caused by heterozygous mutation in the LRP1 gene on chromosome 12q13." [MIM:620690] synonym: "DDH3" EXACT [] xref: MIM:620690 is_a: DOID:0060930 ! developmental dysplasia of the hip created_by: tutajm creation_date: 2024-01-31T09:44:13Z [Term] id: DOID:9008736 name: Chromosome 13q-Mosaicism synonym: "Mosiacism of chromosome 13q" EXACT [] xref: MESH:C535486 xref: RDO:0000623 is_a: DOID:0080014 ! chromosomal disease [Term] id: DOID:9008737 name: VERTEBRAL, CARDIAC, TRACHEOESOPHAGEAL, RENAL, AND LIMB DEFECTS def: "This is a syndrome characterized by anomalies of the vertebrae, heart, trachea, esophagus, kidneys, and limbs." [MIM:619227] synonym: "VCTERL" EXACT [] synonym: "VCTERL SYNDROME" EXACT [] synonym: "WBP11 SPLICEOSOMOPATHY" EXACT [] xref: MIM:619227 is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2021-04-16T12:54:50Z [Term] id: DOID:9008739 name: Athetosis def: "A dyskinesia characterized by an inability to maintain the fingers, toes, tongue, or other body parts in a stable position, resulting in continuous slow, sinusoidal, and flowing involuntary movements. This condition is frequently accompanied by CHOREA, where it is referred to as choreoathetosis. Athetosis may occur as a manifestation of BASAL GANGLIA DISEASES or DRUG TOXICITY. (From Adams et al., Principles of Neurology, 6th ed, p76)" [MESH:D001264] synonym: "Athetoid Movement" EXACT [] synonym: "Athetoid Movements" EXACT [] synonym: "Athetoses" EXACT [] synonym: "Hammond's Disease" EXACT [] synonym: "Hammond's Diseases" EXACT [] synonym: "Hammond Disease" EXACT [] synonym: "Hammond Diseases" EXACT [] synonym: "Hammonds Disease" EXACT [] xref: MESH:D001264 is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9008740 name: Subacute Cerebellar Degeneration xref: MESH:C535352 is_a: DOID:2786 ! cerebellar disease is_a: DOID:9002955 ! Nerve Degeneration [Term] id: DOID:9008741 name: Combined Osteogenesis Imperfecta and Ehlers-Danlos Syndrome synonym: "OI/EDS combined syndrome" EXACT [] xref: MESH:C565178 xref: MIM:PS619115 is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9008742 name: Zazam Sheriff Phillips Syndrome synonym: "Aniridia, ectopia lentis, abnormal upper incisors and mental retardation" EXACT [] synonym: "Aniridia, lens luxation, mental retardation" EXACT [] xref: MESH:C536723 xref: RDO:0002386 is_a: DOID:1059 ! intellectual disability is_a: DOID:12271 ! aniridia is_a: DOID:225 ! syndrome is_a: DOID:9004201 ! Ectopia Lentis is_a: DOID:9009007 ! Tooth Abnormalities [Term] id: DOID:9008743 name: Deafness, Congenital Heart Defects, and Posterior Embryotoxon alt_id: MIM:617992 synonym: "DCHE" EXACT [] xref: MESH:C566604 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9004538 ! Hearing Loss [Term] id: DOID:9008744 name: MHC CLASS II DEFICIENCY 3 def: "This disease is a rare autosomal recessive immunodeficiency characterized by the onset of recurrent and persistent infections from birth. Infectious agents include bacteria, viruses, fungi, and protozoa, usually affecting the respiratory and gastrointestinal tract. Laboratory studies show decreased CD4+ T cells, hypogammaglobulinemia, an inverted CD4:CD8 ratio, and absence of MHC type II antigens (HLA-DR, -DQ, and -DP) on the surface of antigen-presenting cells." [MIM:620816] synonym: "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP C" EXACT [] synonym: "MHC2D3" EXACT [] xref: MIM:620816 xref: MONDO:0971014 is_a: DOID:5812 ! MHC class II deficiency created_by: slaulederkind creation_date: 2024-06-14T10:31:28Z [Term] id: DOID:9008745 name: MHC CLASS II DEFICIENCY 2 def: "This disease is an immunodeficiency characterized by the onset of recurrent infections (bacterial, viral, fungal, parasitic) in early infancy. Features include failure to thrive, chronic diarrhea, and pulmonary infections. Laboratory studies show decreased numbers of CD4+ T cells with increased CD8+ T cells, impaired T-cell responses, hypogammaglobulinemia, inverted CD4:CD8 ratio, and decreased or absent expression of type II MHC antigens (e.g., HLA-DR, -DQ, and -DP) on the cell surface." [MIM:620815] synonym: "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP B" EXACT [] synonym: "MHC2D2" EXACT [] xref: MIM:620815 is_a: DOID:5812 ! MHC class II deficiency created_by: slaulederkind creation_date: 2024-06-14T10:23:12Z [Term] id: DOID:9008746 name: Pasteurellaceae Infections def: "Infections with bacteria of the family PASTEURELLACEAE." [MESH:D016871] synonym: "Pasteurellaceae Infection" EXACT [] xref: EFO:1001386 xref: MESH:D016871 is_a: DOID:9008945 ! Gram-Negative Bacterial Infections [Term] id: DOID:9008747 name: Amyotrophic Dystonic Paraplegia alt_id: MIM:105300 xref: MESH:C566292 is_a: DOID:1059 ! intellectual disability is_a: DOID:2476 ! hereditary spastic paraplegia is_a: DOID:543 ! dystonia is_a: DOID:9649 ! congenital nystagmus [Term] id: DOID:9008748 name: Lactation Disorders def: "Disturbances of MILK secretion in either SEX, not necessarily related to PREGNANCY." [MESH:D007775] synonym: "Hypogalactia" EXACT [] synonym: "Hypogalactias" EXACT [] synonym: "Lactation Disorder" EXACT [] xref: MESH:D007775 is_a: DOID:3463 ! breast disease is_a: DOID:9001791 ! Puerperal Disorders [Term] id: DOID:9008749 name: Leukonychia Totalis synonym: "Hereditary white nails" EXACT [] synonym: "Leukonychia Punctata" EXACT [] synonym: "Porcelain nails" EXACT [] xref: MESH:C535889 xref: RDO:0001249 is_a: DOID:4123 ! nail disease is_a: DOID:9005660 ! Hypopigmentation [Term] id: DOID:9008750 name: Chromosome 9, Trisomy 9q32 synonym: "Duplication 9q32" EXACT [] synonym: "Trisomy 9q32" EXACT [] xref: MESH:C535453 xref: RDO:0000573 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9008751 name: NEURODEVELOPMENTAL DISORDER WITH CHARACTERISTIC FACIAL AND ECTODERMAL FEATURES AND TETRAPARESIS 1 def: "This disease is an autosomal recessive disorder characterized by profound neurodevelopmental impairment, microcephaly, pathognomonic craniofacial features, ectodermal defects, and tetraparesis." [MIM:620888] synonym: "NEDFET1" EXACT [] xref: MIM:620888 is_a: DOID:9004429 ! Neurodevelopmental Disorders relationship: has_component DOID:2121 ! ectodermal dysplasia relationship: has_component DOID:9002079 ! Paresis created_by: slaulederkind creation_date: 2024-09-17T17:36:18Z [Term] id: DOID:9008752 name: Aortic Injuries synonym: "aorta injury" EXACT [] synonym: "aortic injury" EXACT [] xref: RDO:9000716 is_a: DOID:520 ! aortic disease is_a: DOID:9002056 ! Arterial Injury [Term] id: DOID:9008753 name: Intravenous Substance Abuse def: "Abuse, overuse, or misuse of a substance by its injection into a vein." [MESH:D015819] synonym: "Intravenous Drug Abuse" EXACT [] synonym: "intravenous drug use disorder" EXACT [] synonym: "Parenteral Drug Abuse" EXACT [] xref: MESH:D015819 is_a: DOID:302 ! substance abuse [Term] id: DOID:9008754 name: Primary Lymphedema with Myelodysplasia synonym: "Emberger syndrome" EXACT [] xref: MIM:614038 is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:4977 ! lymphedema [Term] id: DOID:9008755 name: Adenine Nucleotide Translocator Deficiency xref: MESH:C566309 is_a: DOID:539 ! ophthalmoplegia [Term] id: DOID:9008756 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 9 def: "An autosomal dominant short telomere syndrome characterized by the development of pulmonary fibrosis or hematologic abnormalities, including leukopenia and leukemia, in adulthood. Caused by heterozygous mutation in the NOP10 gene on chromosome 15q14." [MIM:620400] synonym: "PFBMFT9" EXACT [] xref: MIM:620400 is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related created_by: mtutaj creation_date: 2023-06-06T12:43:34Z [Term] id: DOID:9008757 name: Metastatic Paraganglioma def: "This tumor is a paraganglioma that metastasizes to regional or distant anatomic sites. Common sites of metastasis include the lymph nodes, lungs, bones, and liver." [NCI:C8559] synonym: "Malignant Paraganglioma" EXACT [] synonym: "Malignant Paraganglionic Neoplasm" EXACT [] synonym: "Malignant Paraganglionic Tumor" EXACT [] synonym: "Malignant Paraganglion Neoplasm" EXACT [] synonym: "Malignant Paraganglion Tumor" EXACT [] xref: EFO:1000360 is_a: DOID:0050773 ! paraganglioma created_by: slaulede creation_date: 2023-01-12T12:00:18Z [Term] id: DOID:9008758 name: Split-Hand with Obstructive Uropathy, Spina Bifida, and Diaphragmatic Defects alt_id: MIM:183802 xref: MESH:C566662 is_a: DOID:0080016 ! spina bifida is_a: DOID:9001611 ! Urogenital Abnormalities is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008759 name: Female Athlete Triad Syndrome def: "A condition of competitive female athletes in which there are interrelated problems of feeding and eating disorders; AMENORRHEA; and OSTEOPOROSIS." [MESH:D053716] synonym: "Female Athlete Triad" EXACT [] xref: EFO:1001790 xref: MESH:D053716 is_a: DOID:11476 ! osteoporosis is_a: DOID:225 ! syndrome is_a: DOID:28 ! endocrine system disease is_a: DOID:8670 ! eating disorder [Term] id: DOID:9008760 name: Oliguria def: "Decreased URINE output that is below the normal range. Oliguria can be defined as urine output of less than or equal to 0.5 or 1 ml/kg/hr depending on the age." [MESH:D009846] synonym: "Oligurias" EXACT [] xref: MESH:D009846 is_a: DOID:9003919 ! Urination Disorders is_a: DOID:9007629 ! Urological Manifestations [Term] id: DOID:9008761 name: Thai Symphalangism Syndrome alt_id: MIM:608028 xref: MESH:C564303 is_a: DOID:1148 ! polydactyly is_a: DOID:13714 ! anodontia is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy [Term] id: DOID:9008762 name: HID Syndrome synonym: "Hystrix-Like Ichthyosis with Deafness" EXACT [] xref: MESH:C566528 xref: MIM:602540 xref: MONDO:0011245 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1697 ! ichthyosis is_a: DOID:225 ! syndrome [Term] id: DOID:9008763 name: Femoral Fractures def: "Fractures of the femur." [MESH:D005264] synonym: "Femoral Fracture" EXACT [] synonym: "femur fracture" EXACT [] xref: EFO:0008553 xref: MESH:D005264 is_a: DOID:9002589 ! Bone Fractures is_a: DOID:9008911 ! Leg Injuries [Term] id: DOID:9008764 name: Immunodeficiency 111 def: "An autosomal recessive immunologic disorder characterized by childhood onset of failure to thrive, skin manifestations, pancytopenia, and susceptibility to recurrent infections. Caused by homozygous or compound heterozygous mutation in the DPP9 gene on chromosome 19p13." [MIM:620331] synonym: "Hatipoglu immunodeficiency syndrome" EXACT [] synonym: "HATIS" EXACT [] synonym: "IMD111" EXACT [] xref: MIM:620331 is_a: DOID:12450 ! pancytopenia is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001276 ! Failure to Thrive is_a: DOID:9007472 ! Skin Manifestations created_by: mtutaj creation_date: 2023-04-28T09:24:48Z [Term] id: DOID:9008765 name: Malarial Anemia def: "Result of ineffective erythropoiesis following malarial infection." [] is_a: DOID:12365 ! malaria is_a: DOID:2355 ! anemia created_by: rgd creation_date: 2016-06-06T00:00:00Z [Term] id: DOID:9008766 name: Myopia 20, Autosomal Dominant def: "Myopia, or nearsightedness, is a refractive error of the eye. Light rays from a distant object are focused in front of the retina and those from a near object are focused in the retina; therefore distant objects are blurry and near objects are clear. Myopia 20 maps to chromosome 13q12.12. (OMIM)" [] synonym: "MYP20" EXACT [] xref: MIM:614166 is_a: DOID:11830 ! myopia [Term] id: DOID:9008767 name: Thrombocytopenia 8 def: "An autosomal dominant syndromic disorder characterized by early-childhood onset of chronic thrombocytopenia with anisotropy and immature enlarged platelets, usually without spontaneous bleeding episodes. Affected individuals have dysmorphic facial features and variable developmental delay with speech delay and mildly impaired intellectual development (Latham et al., 2018). Caused by heterozygous mutation in the ACTB gene on chromosome 7p22." [MIM:620475] synonym: "ACTB-associated syndromic thrombocytopenia" EXACT [] synonym: "ACTB-AST" EXACT [] synonym: "THC8" EXACT [] synonym: "Thrombocytopenia 8, with dysmorphic features and developmental delay" EXACT [] synonym: "Thrombocytopenia, autosomal dominant, 8" EXACT [] xref: MIM:620475 is_a: DOID:1588 ! thrombocytopenia is_a: DOID:9001487 ! Facies is_a: DOID:9008582 ! Developmental Disease created_by: mtutaj creation_date: 2023-09-01T09:17:19Z [Term] id: DOID:9008768 name: Sensorineural Deafness with Hypertrophic Cardiomyopathy synonym: "Cardiomyopathy and Deafness" EXACT [] synonym: "PROGRESSIVE SENSORINEURAL HEARING LOSS-HYPERTROPHIC CARDIOMYOPATHY SYNDROME" EXACT [] xref: MESH:C565236 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:11984 ! hypertrophic cardiomyopathy [Term] id: DOID:9008769 name: Hydroxyprolinemia alt_id: MIM:237000 synonym: "4-Hydroxy-L-Proline Oxidase Deficiency" EXACT [] xref: MESH:C562669 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9008770 name: Arteriosclerosis, Severe Juvenile alt_id: MIM:208060 xref: MESH:C565941 is_a: DOID:2349 ! arteriosclerosis [Term] id: DOID:9008772 name: LEUKOENCEPHALOPATHY, PORPHYRIA-RELATED def: "This disease is an autosomal recessive disorder characterized by the onset of variable and slowly progressive neurologic abnormalities in childhood or adolescence with survival to late adulthood. Features include spastic paraparesis, cerebellar ataxia, peripheral axonal neuropathy, ocular abnormalities, and leukoencephalopathy affecting the deep cerebral white matter on brain imaging. Laboratory studies show variably increased plasma and urinary levels of delta-aminolevulinic acid (ALA), porphobilinogen (PBG), and uroporphyrin due to decreased HMBS enzyme activity." [MIM:620711] synonym: "LENCEP" EXACT [] xref: MIM:620711 is_a: DOID:13268 ! porphyria is_a: DOID:9002704 ! Leukoencephalopathies created_by: slaulederkind creation_date: 2024-03-25T12:18:01Z [Term] id: DOID:9008773 name: Hodgkin Disease, Y-Linked Pseudoautosomal alt_id: MIM:400021 alt_id: RDO:0013133 synonym: "Hodgkin Lymphoma, Y-Linked Pseudoautosomal" EXACT [] xref: MESH:C564034 is_a: DOID:0050738 ! Y-linked monogenic disease is_a: DOID:8567 ! Hodgkin's lymphoma [Term] id: DOID:9008774 name: Pneumonic Pasteurellosis def: "Bovine respiratory disease found in animals that have been shipped or exposed to CATTLE recently transported. The major agent responsible for the disease is MANNHEIMIA HAEMOLYTICA and less commonly, PASTEURELLA MULTOCIDA or HAEMOPHILUS SOMNUS. All three agents are normal inhabitants of the bovine nasal pharyngeal mucosa but not the LUNG. They are considered opportunistic pathogens following STRESS, PHYSIOLOGICAL and/or a viral infection. The resulting bacterial fibrinous BRONCHOPNEUMONIA is often fatal." [MESH:D012766] synonym: "Shipping Fever" EXACT [] xref: EFO:0007449 xref: MESH:D012766 is_a: DOID:9006345 ! Bovine Respiratory Disease Complex is_a: DOID:9008225 ! Respirovirus Infections is_a: DOID:9008746 ! Pasteurellaceae Infections [Term] id: DOID:9008775 name: Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome synonym: "CAMAK Syndrome" EXACT [] xref: MESH:C566861 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:4667 ! kyphosis is_a: DOID:83 ! cataract [Term] id: DOID:9008776 name: Tonic Pupil def: "A pupillary abnormality characterized by a poor pupillary light reaction, reduced accommodation, iris sector palsies, an enhanced pupillary response to near effort that results in a prolonged, 'tonic' constriction, and slow pupillary redilation. This condition is associated with injury to the postganglionic parasympathetic innervation to the pupil. (From Miller et al., Clinical Neuro-Ophthalmology, 4th ed, pp492-500)" [MESH:D015845] synonym: "Adie's Pupil" EXACT [] synonym: "Adie Pupil" EXACT [] synonym: "Adies Pupil" EXACT [] synonym: "Myotonic Pupil" EXACT [] synonym: "Myotonic Pupils" EXACT [] synonym: "Neuropathic Tonic Pupil" EXACT [] synonym: "Neuropathic Tonic Pupils" EXACT [] synonym: "Pupil, Local Tonic" EXACT [] synonym: "Pupillotonia" EXACT [] synonym: "Pupillotonias" EXACT [] synonym: "Pupils, Adie's" EXACT [] synonym: "Pupils, Local Tonic" EXACT [] synonym: "Tonic Pupils" EXACT [] xref: MESH:D015845 is_a: DOID:238 ! pupil disease [Term] id: DOID:9008777 name: Zygomatic Fractures def: "Fractures of the zygoma." [MESH:D015051] synonym: "Zygomatic Fracture" EXACT [] xref: MESH:D015051 xref: RDO:0006842 is_a: DOID:9002209 ! Skull Fractures is_a: DOID:9004460 ! Maxillofacial Injuries [Term] id: DOID:9008778 name: Coronary Artery Calcification def: "Calcification of coronary arteries involves early deposition of calcium in the formation of an atherosclerotic plaque." [] synonym: "CAC" EXACT [] xref: EFO:0004643 xref: EFO:0004723 xref: RDO:9000026 is_a: DOID:0111582 ! hereditary arterial and articular multiple calcification syndrome [Term] id: DOID:9008779 name: Achondroplasia and Swiss Type Agammaglobulinemia synonym: "Agammaglobulinaemia and achondroplasia" EXACT [] xref: MESH:C536020 is_a: DOID:2583 ! agammaglobulinemia is_a: DOID:4480 ! achondroplasia [Term] id: DOID:9008780 name: syndromic X-linked intellectual developmental disorder 37 def: "A developmental disorder showing phenotypic variability and variable severity, caused by hemizygous or heterozygous mutation in the ZFX gene on chromosome Xp22." [] synonym: "INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 37" EXACT [] synonym: "Intellectual developmental disorder, X-linked syndromic 37" EXACT [] synonym: "MRXS37" EXACT [] xref: MIM:301118 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: tutajm creation_date: 2024-05-14T09:06:58Z [Term] id: DOID:9008781 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, MOVEMENT ABNORMALITIES, AND SEIZURES def: "This disease is an autosomal recessive disorder characterized by global developmental delay apparent in infancy, axial hypotonia, peripheral spasticity, and early-onset seizures of various types and severity. Affected individuals have delayed walking or are unable to walk and show impaired intellectual development with poor or absent speech." [MIM:620001] synonym: "NEDSSBA" EXACT [] xref: MIM:620001 is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2024-03-26T10:42:30Z [Term] id: DOID:9008782 name: AIDS-Associated Nephropathy def: "Renal syndrome in human immunodeficiency virus-infected patients characterized by nephrotic syndrome, severe proteinuria, focal and segmental glomerulosclerosis with distinctive tubular and interstitial changes, enlarged kidneys, and peculiar tubuloreticular structures. The syndrome is distinct from heroin-associated nephropathy as well as other forms of kidney disease seen in HIV-infected patients." [MESH:D016263] synonym: "AIDS Associated Nephropathies" EXACT [] synonym: "AIDS Nephropathies" EXACT [] synonym: "AIDS Nephropathy" EXACT [] synonym: "HIV Associated Nephropathies" EXACT [] synonym: "HIV Associated Nephropathy" EXACT [] synonym: "HIV Related Nephropathies" EXACT [] synonym: "HIV Related Nephropathy" EXACT [] synonym: "Human Immunodeficiency Virus Associated Nephropathy" EXACT [] xref: EFO:0007313 xref: MESH:D016263 is_a: DOID:557 ! kidney disease is_a: DOID:635 ! acquired immunodeficiency syndrome [Term] id: DOID:9008785 name: Yusho Disease xref: MESH:C536720 xref: RDO:0002383 is_a: DOID:13268 ! porphyria [Term] id: DOID:9008786 name: congenital myasthenic syndrome 4 def: "This disease is a congenital myasthenic syndrome characterized by autosomal inheritance of postsynaptic neuromuscular junction defects, early-onset progressive muscle weakness, and kinetic abnormalities of the acetylcholine receptor channel that has_material_basis_in homozygous, heterozygous, compound heterozygous, or rarely biallelic mutation in the CHRNE gene on chromosome 17p13." [] xref: MESH:C536090 xref: MESH:C565289 xref: MIM:605809 xref: MIM:608931 xref: MIM:616324 is_a: DOID:3635 ! congenital myasthenic syndrome created_by: slaulederkind creation_date: 2024-01-09T13:14:18Z [Term] id: DOID:9008787 name: Intellectual Developmental Disorder with Speech Delay, Autism, and Dysmorphic Facies synonym: "IDDSADF" EXACT [] xref: EFO:0010653 xref: MIM:618672 is_a: DOID:1059 ! intellectual disability is_a: DOID:12849 ! autistic disorder is_a: DOID:9001487 ! Facies is_a: DOID:9005466 ! Language Development Disorders created_by: slaulede creation_date: 2020-01-10T14:20:25Z [Term] id: DOID:9008788 name: Spinocerebellar Ataxia with Rigidity and Peripheral Neuropathy alt_id: MIM:183050 xref: MESH:C566669 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:9001480 ! Muscle Rigidity is_a: DOID:9002121 ! Spinocerebellar Ataxias [Term] id: DOID:9008789 name: Type 2 Diabetes Mellitus 3 alt_id: MIM:603694 synonym: "NIDDM3" EXACT [] synonym: "noninsulin-dependent diabetes mellitus 3" EXACT [] synonym: "T2D3" EXACT [] xref: MESH:C566342 is_a: DOID:9352 ! type 2 diabetes mellitus [Term] id: DOID:9008790 name: Nablus Mask-Like Facial Syndrome alt_id: MIM:608156 synonym: "chromosome 8q22.1 deletion syndrome" EXACT [] synonym: "NMLFS" EXACT [] xref: MESH:C536110 is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:10348 ! blepharophimosis is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008791 name: Familial Cutaneous Papillomatosis alt_id: MIM:167900 synonym: "CARP" EXACT [] synonym: "PAPILLOMATOSIS, CONFLUENT AND RETICULATED" EXACT [] synonym: "PAPILLOMATOSIS, RETICULATED AND CONFLUENT, OF GOUGEROT AND CARTEAUD" EXACT [] xref: MESH:C566832 is_a: DOID:2615 ! papilloma is_a: DOID:9004464 ! Skin Neoplasms [Term] id: DOID:9008792 name: Microphthalmia/Coloboma 11 def: "A disease characterized by ocular coloboma and related phenotypes such as inferior chorioretinal hypoplasia and/or optic disc hypoplasia, with occasional microphthalmia or high myopia. Caused by heterozygous mutation in the FZD5 gene on chromosome 2q33." [MIM:620731] synonym: "MCOPCB11" EXACT [] xref: MIM:620731 xref: MONDO:0958239 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma created_by: tutajm creation_date: 2024-03-18T11:25:03Z [Term] id: DOID:9008793 name: Equine Strongyle Infections alt_id: RDO:0006628 def: "Infection of horses with parasitic nematodes of the superfamily STRONGYLOIDEA. Characteristics include the development of hemorrhagic nodules on the abdominal peritoneum." [MESH:D013319] synonym: "Equine Strongyle Infection" EXACT [] synonym: "Equine Strongyloses" EXACT [] synonym: "Equine Strongylosis" EXACT [] xref: MESH:D013319 is_a: DOID:9001187 ! Horse Diseases is_a: DOID:9003369 ! Strongylida Infections is_a: DOID:9006372 ! Animal Helminthiasis [Term] id: DOID:9008794 name: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY synonym: "APUG" EXACT [] xref: MIM:614262 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:10159 ! osteonecrosis is_a: DOID:14415 ! Legg-Calve-Perthes disease is_a: DOID:539 ! ophthalmoplegia is_a: DOID:9005246 ! Paralysis [Term] id: DOID:9008795 name: Microcephaly Seizures Genital Hypoplasia synonym: "Microcephaly micropenis convulsions" EXACT [] synonym: "Microcephaly micropenis seizures" EXACT [] xref: MESH:C537540 is_a: DOID:10907 ! microcephaly is_a: DOID:11832 ! visual epilepsy is_a: DOID:9001611 ! Urogenital Abnormalities [Term] id: DOID:9008796 name: Wiedemann Grosse Dibbern Syndrome xref: MESH:C536704 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:420 ! hypertrichosis is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008797 name: Facial Asymmetry def: "Congenital or acquired asymmetry of the face." [MESH:D005146] synonym: "Facial Asymmetries" EXACT [] xref: MESH:D005146 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9008798 name: Chemke Oliver Mallek Syndrome synonym: "multiple ophthalmic anomalies and digital hypoplasia" EXACT [] xref: MESH:C535922 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008296 ! Eye Abnormalities [Term] id: DOID:9008799 name: Anaplasmosis def: "A disease of cattle caused by parasitization of the red blood cells by bacteria of the genus ANAPLASMA." [MESH:D000712] synonym: "Anaplasmoses" EXACT [] xref: MESH:D000712 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9008029 ! Anaplasmataceae Infections [Term] id: DOID:9008801 name: Selective Tooth Agenesis 5 alt_id: MIM:610926 alt_id: RDO:0014310 synonym: "He-Zhao Deficiency" EXACT [] synonym: "Hypodontia-Oligodontia 5" EXACT [] synonym: "STHAG5" EXACT [] xref: MESH:C565757 is_a: DOID:0050591 ! tooth agenesis [Term] id: DOID:9008802 name: Periodic Fever, Menstrual Cycle-Dependent synonym: "Luteal-phase-dependent febrile episode" EXACT [] synonym: "Luteal-phase-dependent periodic fever" EXACT [] synonym: "Menstrual cycle-dependent febrile episode" EXACT [] xref: MIM:614674 xref: MONDO:0044660 xref: ORDO:498251 is_a: DOID:9000723 ! Female Urogenital Diseases and Pregnancy Complications is_a: DOID:9000972 ! Fever is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases [Term] id: DOID:9008803 name: Nicolau Syndrome def: "An uncommon complication of INTRAMUSCULAR INJECTION leading to variable degrees of necrosis of skin and underlying tissue." [MESH:D065148] synonym: "Embolia Cutis Medicamentosa" EXACT [] synonym: "Livedo-like Dermatitides" EXACT [] synonym: "Livedo like Dermatitis" EXACT [] synonym: "Nicolau's Livedoid Syndrome" EXACT [] synonym: "Nicolau's Syndrome" EXACT [] synonym: "Nicolau Livedoid Dermatitis" EXACT [] synonym: "Nicolau Livedoid Syndrome" EXACT [] synonym: "Nicolaus Livedoid Syndrome" EXACT [] synonym: "Nicolaus Syndrome" EXACT [] xref: MESH:D065148 xref: MONDO:0971103 xref: ORDO:664787 is_a: DOID:225 ! syndrome is_a: DOID:9005236 ! Drug Eruptions [Term] id: DOID:9008804 name: Aphakia def: "Absence of crystalline lens totally or partially from field of vision, from any cause except after cataract extraction. Aphakia is mainly congenital or as result of LENS DISLOCATION AND SUBLUXATION." [MESH:D001035] synonym: "Aphakias" EXACT [] xref: MESH:D001035 xref: RDO:0003689 is_a: DOID:110 ! lens disease [Term] id: DOID:9008805 name: Overbite def: "A malocclusion in which maxillary incisor and canine teeth project over the mandibular teeth excessively. The overlap is measured perpendicular to the occlusal plane and is also called vertical overlap. When the overlap is measured parallel to the occlusal plane it is referred to as overjet." [MESH:D057887] synonym: "Deep Bite" EXACT [] synonym: "Deep Bites" EXACT [] synonym: "Dental Overjet" EXACT [] synonym: "Dental Overjets" EXACT [] synonym: "Incisor Protrusion" EXACT [] synonym: "Incisor Protrusions" EXACT [] synonym: "Overbites" EXACT [] xref: MESH:D057887 is_a: DOID:9006722 ! Malocclusion, Angle Class II [Term] id: DOID:9008806 name: Oral Hemorrhage def: "Bleeding from the blood vessels of the mouth, which may occur as a result of injuries to the mouth, accidents in oral surgery, or diseases of the gums." [MESH:D006472] synonym: "oral hemorrhages" EXACT [] xref: MESH:D006472 is_a: DOID:403 ! mouth disease is_a: DOID:9006894 ! Oral Manifestations is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9008807 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, BRAIN ANOMALIES, DISTINCTIVE FACIES, AND ABSENT LANGUAGE def: "This disease is characterized by hypotonia, global developmental delay, severely impaired intellectual development with poor or absent speech, delayed walking or inability to walk, feeding difficulties with poor overall growth, dysmorphic facial features, and brain anomalies, including ventriculomegaly and progressive white matter loss." [MIM:620851] synonym: "NEDHAFA" EXACT [] synonym: "RENU" EXACT [] synonym: "ReNU syndrome" EXACT [] synonym: "RNU4-2-ASSOCIATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:620851 xref: MONDO:0971172 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulederkind creation_date: 2024-07-12T10:48:24Z [Term] id: DOID:9008808 name: Pregnancy Complications, Infectious def: "The co-occurrence of pregnancy and an INFECTION. The infection may precede or follow FERTILIZATION." [MESH:D011251] synonym: "Infectious Pregnancy Complication" EXACT [] synonym: "Pregnancies, Infectious Complications" EXACT [] xref: MESH:D011251 xref: RDO:0001969 is_a: DOID:9004702 ! Pregnancy Complications [Term] id: DOID:9008809 name: Body Temperature Changes def: "Significant alterations in temperature of the human body, above or below 98.6 degrees F. or 37 degrees C. when taken orally." [MESH:D001832] synonym: "Body Temperature Change" EXACT [] xref: MESH:D001832 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9008810 name: Spontaneous Rupture def: "Tear or break of an organ, vessel or other soft part of the body, occurring in the absence of external force." [MESH:D012422] synonym: "Spontaneous Ruptures" EXACT [] xref: MESH:D012422 is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9008811 name: Tachypnea def: "Increased RESPIRATORY RATE." [MESH:D059246] synonym: "Tachypneas" EXACT [] xref: EFO:0009840 xref: MESH:D059246 xref: RDO:0010000 is_a: DOID:9000575 ! Respiratory Signs and Symptoms is_a: DOID:9004659 ! Respiration Disorders [Term] id: DOID:9008812 name: Hyperphenylalaninemia, BH4-Deficient, due to Partial PTS Deficiency synonym: "Hyperphenylalaninemia, bh4-deficient, a, due to partial pts deficiency" EXACT [] xref: MESH:C567493 is_a: DOID:9281 ! phenylketonuria [Term] id: DOID:9008813 name: Thecoma def: "A gonadal stromal neoplasm composed only of THECA CELLS, occurring mostly in the postmenopausal OVARY. It is filled with lipid-containing spindle cells and produces ESTROGENS that can lead to ENDOMETRIAL HYPERPLASIA; UTERINE HEMORRHAGE; or other malignancies in postmenopausal women and sexual precocity in girls. When tumors containing theca cells also contain FIBROBLASTS, they are identified as thecoma-fibroma tumors with less active hormone production." [MESH:D013798] synonym: "Theca Cell Tumor" EXACT [] synonym: "Theca Cell Tumors" EXACT [] synonym: "Thecomas" EXACT [] synonym: "Thecoma, somatic" NARROW [] xref: MESH:D013798 is_a: DOID:192 ! sex cord-gonadal stromal tumor is_a: DOID:9002762 ! Ovarian Neoplasms [Term] id: DOID:9008815 name: Mirror Movements 3 alt_id: RDO:9001279 synonym: "MRMV3" EXACT [] xref: MIM:616059 is_a: DOID:0111153 ! congenital mirror movement disorder is_a: DOID:9008675 ! Dyskinesias [Term] id: DOID:9008816 name: Pancreatic Beta Cell Agenesis with Neonatal Diabetes Mellitus alt_id: MIM:600089 alt_id: RDO:0004044 synonym: "Congenital absence of insulin-producing beta cells with diabetes mellitus" EXACT [] xref: MESH:C538111 is_a: DOID:11717 ! neonatal diabetes [Term] id: DOID:9008817 name: Transmissible Gastroenteritis, of Swine def: "A condition of chronic gastroenteritis in adult pigs and fatal gastroenteritis in piglets caused by a CORONAVIRUS." [MESH:D005761] synonym: "Porcine Transmissible Gastroenteritides" EXACT [] synonym: "Porcine Transmissible Gastroenteritis" EXACT [] synonym: "Swine Transmissible Gastroenteritides" EXACT [] synonym: "Swine Transmissible Gastroenteritis" EXACT [] xref: MESH:D005761 is_a: DOID:0080599 ! Coronavirus infectious disease is_a: DOID:9008435 ! Swine Diseases [Term] id: DOID:9008818 name: Retinal Dystrophy, Early Onset Severe xref: MESH:C565741 is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9008819 name: Diabetes, Deafness, Developmental Delay, and Short Stature Syndrome def: "A disease characterized by childhood-onset autoantibody-negative diabetes mellitus and bilateral sensorineural deafness, as well as short stature, microcephaly, and developmental delay. Caused by homozygous mutation in the MANF gene on chromosome 3p21." [MIM:620651] synonym: "DDDS" EXACT [] xref: MIM:620651 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:10907 ! microcephaly is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9351 ! diabetes mellitus created_by: tutajm creation_date: 2023-12-12T17:57:37Z [Term] id: DOID:9008820 name: Visceral Pain def: "Pain originating from internal organs (VISCERA) associated with autonomic phenomena (PALLOR; SWEATING; NAUSEA; and VOMITING). It often becomes a REFERRED PAIN." [MESH:D059265] synonym: "Visceral Pains" EXACT [] xref: MESH:D059265 is_a: DOID:9001048 ! Nociceptive Pain [Term] id: DOID:9008821 name: Otitis Media with Effusion def: "Inflammation of the middle ear with a clear pale yellow-colored transudate." [MESH:D010034] synonym: "Middle Ear Effusion" EXACT [] synonym: "Middle Ear Effusions" EXACT [] synonym: "Secretory Otitis Media" EXACT [] synonym: "Serous Otitis Media" EXACT [] xref: EFO:0007415 xref: MESH:D010034 xref: RDO:0006257 is_a: DOID:10754 ! otitis media [Term] id: DOID:9008822 name: Chromosome 16, Trisomy 16q synonym: "Duplication 16q" EXACT [] synonym: "Trisomy 16q" EXACT [] xref: MESH:C538042 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9008823 name: Avian Malaria def: "Any of a group of infections of fowl caused by protozoa of the genera PLASMODIUM, Leucocytozoon, and Haemoproteus. The life cycles of these parasites and the disease produced bears strong resemblance to those observed in human malaria." [MESH:D008289] synonym: "Avian Malarias" EXACT [] xref: MESH:D008289 is_a: DOID:12365 ! malaria is_a: DOID:9006114 ! Bird Diseases [Term] id: DOID:9008824 name: Sarcopenia def: "Progressive decline in muscle mass due to aging which results in decreased functional capacity of muscles." [MESH:D055948] synonym: "Sarcopenias" EXACT [] xref: EFO:1000653 xref: MESH:D055948 xref: RDO:0007724 is_a: DOID:767 ! muscular atrophy is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:9008825 name: Brunoni Syndrome synonym: "Mesomelia, radial hypoplasia bifid thumb unusual facies" EXACT [] synonym: "Mesomelic dwarfism, skeletal abnormalities, and ectodermal dysplasia" EXACT [] xref: MESH:C537408 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007661 ! Dwarfism is_a: DOID:9009006 ! Mesomelic Dysplasia [Term] id: DOID:9008826 name: YOU-HOOVER-FONG SYNDROME def: "This is a disorder characterized by severely delayed global development, microcephaly, abnormal balance and movement." [MIM:616954] synonym: "TELO2-related intellectual disability-neurodevelopmental disorder" EXACT [] synonym: "YHFS" EXACT [] xref: EFO:0009061 xref: MIM:616954 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities created_by: rgd creation_date: 2017-04-19T00:00:00Z [Term] id: DOID:9008827 name: Glossalgia def: "Painful sensations in the tongue, including a sensation of burning." [MESH:D005926] synonym: "Glossalgias" EXACT [] synonym: "Glossodynia" EXACT [] synonym: "Glossodynias" EXACT [] synonym: "Glossopyroses" EXACT [] synonym: "Glossopyrosis" EXACT [] xref: MESH:D005926 is_a: DOID:10944 ! tongue disease is_a: DOID:9000641 ! Pain [Term] id: DOID:9008828 name: Li-Fraumeni-Like Syndrome xref: MESH:C567189 is_a: DOID:3012 ! Li-Fraumeni syndrome [Term] id: DOID:9008829 name: Nijmegen Breakage Syndrome-Like Disorder alt_id: MIM:613078 synonym: "microcephaly and spontaneous chromosome instability without immunodeficiency" EXACT [] synonym: "NBSLD" EXACT [] synonym: "NBS-LIKE DISORDER" EXACT [] synonym: "RAD50 deficiency" EXACT [] xref: MESH:C567767 xref: NCI:C153178 is_a: DOID:10907 ! microcephaly is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9008840 ! DNA Repair-Deficiency Disorders [Term] id: DOID:9008830 name: Vasovagal Syncope alt_id: RDO:0002560 def: "Loss of consciousness due to a reduction in blood pressure that is associated with an increase in vagal tone and peripheral vasodilation." [MESH:D019462] synonym: "cerebral syncope" EXACT [] synonym: "Cerebral Syncopes" EXACT [] synonym: "Malignant Neurocardiogenic Syncope" EXACT [] synonym: "Malignant Neurocardiogenic Syncopes" EXACT [] synonym: "Neurally Mediated Faint" EXACT [] synonym: "Neurally Mediated Faints" EXACT [] synonym: "Neurocardiogenic Syncope" EXACT [] synonym: "Neurocardiogenic Syncopes" EXACT [] synonym: "Neurogenic Syncope" EXACT [] synonym: "Neurogenic Syncopes" EXACT [] synonym: "Supine Syncope" EXACT [] synonym: "Supine Syncopes" EXACT [] synonym: "Syncope, Vasovagal, Neurally-Mediated" EXACT [] synonym: "Vasodepressor Syncope" EXACT [] synonym: "Vasodepressor Syncopes" EXACT [] synonym: "vasovagal syncopes" EXACT [] xref: MESH:D019462 is_a: DOID:9000727 ! Syncope is_a: DOID:9004453 ! Orthostatic Intolerance [Term] id: DOID:9008831 name: Abuse Dwarfism Syndrome synonym: "Child abuse dwarfism" EXACT [] synonym: "Psychosocial dwarfism" EXACT [] xref: MESH:C535569 xref: RDO:0000765 is_a: DOID:225 ! syndrome is_a: DOID:9007370 ! Child Behavior Disorders is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities [Term] id: DOID:9008832 name: FOR Heavy Chain Disease Protein, Human synonym: "gamma 1 heavy chain disease protein FOR, human" EXACT [] xref: MESH:C483996 is_a: DOID:0060125 ! heavy chain disease [Term] id: DOID:9008833 name: Pestivirus Infections def: "Infections with viruses of the genus PESTIVIRUS, family FLAVIVIRIDAE." [MESH:D018182] synonym: "Pestivirus Infection" EXACT [] synonym: "Pestivirus infectious disease" EXACT [] xref: EFO:0007432 xref: MESH:D018182 is_a: DOID:9008551 ! Flaviviridae Infections [Term] id: DOID:9008834 name: Maple Syrup Urine Disease, Type 1A alt_id: MIM:248600 synonym: "Maple Syrup Urine Disease, Intermediate, Type IA" EXACT [] synonym: "Maple Syrup Urine Disease, Type IA" EXACT [] synonym: "MSUD1A" EXACT [] xref: MESH:C535710 is_a: DOID:9269 ! maple syrup urine disease [Term] id: DOID:9008835 name: Splenic Rupture def: "Rupture of the SPLEEN due to trauma or disease." [MESH:D013161] synonym: "Splenic Ruptures" EXACT [] xref: MESH:D013161 is_a: DOID:2529 ! splenic disease is_a: DOID:9001932 ! Abdominal Injuries is_a: DOID:9005630 ! Rupture [Term] id: DOID:9008836 name: Catheter-Related Infections def: "Infections resulting from the use of catheters. Proper aseptic technique, site of catheter placement, material composition, and virulence of the organism are all factors that can influence possible infection." [MESH:D055499] synonym: "Catheter-Associated Infection" EXACT [] synonym: "Catheter Associated Infections" EXACT [] synonym: "Catheter-Related Infection" EXACT [] xref: MESH:D055499 is_a: DOID:9004384 ! Bacterial Infections and Mycoses [Term] id: DOID:9008837 name: Severe Congenital Neutropenia 11, Autosomal Dominant def: "A disease characterized by the onset of recurrent infections, mainly bacterial, in early childhood. Caused by heterozygous mutation in the SEC61A1 gene on chromosome 3q21." [MIM:620674] synonym: "SCN11" EXACT [] synonym: "severe congenital neutropenia 11" EXACT [] xref: MIM:620674 is_a: DOID:0112130 ! autosomal dominant severe congenital neutropenia created_by: tutajm creation_date: 2024-01-19T10:35:34Z [Term] id: DOID:9008838 name: Pick Complex xref: MESH:C563966 is_a: DOID:9002031 ! Frontotemporal Lobar Degeneration [Term] id: DOID:9008839 name: Factor V and Factor VIII, Combined Deficiency of, 2 synonym: "F5F8D2" EXACT [] xref: MIM:613625 is_a: DOID:12134 ! factor VIII deficiency is_a: DOID:2216 ! factor V deficiency [Term] id: DOID:9008840 name: DNA Repair-Deficiency Disorders def: "Disorders resulting from defective DNA REPAIR processes or the associated cellular responses to DNA DAMAGE." [MESH:D049914] synonym: "Chromosome Instability Syndrome" EXACT [] synonym: "Chromosome Instability Syndromes" EXACT [] synonym: "Deficient DNA Repair" EXACT [] synonym: "Deficient DNA Repairs" EXACT [] synonym: "DNA Repair-Deficiencies" EXACT [] synonym: "DNA Repair Deficiency" EXACT [] synonym: "DNA Repair-Deficiency Disorder" EXACT [] xref: EFO:0008499 xref: MESH:D049914 is_a: DOID:0014667 ! disease of metabolism [Term] id: DOID:9008841 name: Neuroendocrine Carcinoma of Salivary Glands, Sensorineural Hearing Loss, and Enamel Hypoplasia alt_id: MIM:603641 xref: MESH:C566352 xref: MONDO:0011352 is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:1800 ! neuroendocrine carcinoma is_a: DOID:693 ! dental enamel hypoplasia is_a: DOID:9003216 ! Salivary Gland Neoplasms [Term] id: DOID:9008843 name: Flail Chest def: "A complication of multiple RIB FRACTURES; RIB and STERNUM fractures, or thoracic surgery. A portion of the THORACIC WALL becomes isolated from the RIB CAGE and exhibits paradoxical respiration." [MESH:D005409] synonym: "Stove in Chest" EXACT [] xref: MESH:D005409 is_a: DOID:9001954 ! Thoracic Injuries [Term] id: DOID:9008844 name: Serous Cystadenoma def: "A cystic tumor of the ovary, containing thin, clear, yellow serous fluid and varying amounts of solid tissue, with a malignant potential several times greater than that of mucinous cystadenoma (CYSTADENOMA, MUCINOUS). It can be unilocular, parvilocular, or multilocular. It is often bilateral and papillary. The cysts may vary greatly in size. (Dorland, 27th ed; from Hughes, Obstetric-Gynecologic Terminology, 1972)" [MESH:D018293] synonym: "Serous Cystadenomas" EXACT [] xref: EFO:0002504 xref: MESH:D018293 is_a: DOID:2634 ! cystadenoma [Term] id: DOID:9008845 name: Oocyte Maturation Defect 2 synonym: "Oocyte/zygote/embryo maturation arrest 2" EXACT [] synonym: "OOMD2" EXACT [] synonym: "OZEMA2" EXACT [] xref: MIM:616780 is_a: DOID:9007456 ! Female Infertility [Term] id: DOID:9008847 name: Sensorineural Deafness and Migraine def: "A syndrome combining recurrent unilateral pulsatile headaches and hearing loss resulting from damage to the COCHLEA." [] is_a: DOID:10003 ! sensorineural hearing loss is_a: DOID:225 ! syndrome is_a: DOID:6364 ! migraine created_by: rgd creation_date: 2016-07-12T00:00:00Z [Term] id: DOID:9008848 name: Slow Coronary Flow def: "A condition described by the presence of an unexplained delay in the progression of intracoronary contrast during angiography." [] xref: NCI:C165530 is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9008851 name: Megarbane Jalkh Syndrome alt_id: MIM:612785 synonym: "developmental delay, dysmorphic features, neonatal spontaneous fractures, wrinkled skin, and hepatic failure" EXACT [] xref: MESH:C548071 is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008852 name: Respiratory Underresponsiveness to Hypoxia and Hypercapnia alt_id: MIM:267480 xref: MESH:C564848 is_a: DOID:11162 ! respiratory failure [Term] id: DOID:9008853 name: Specific Language Impairment 4 alt_id: MIM:612514 synonym: "SLI4" EXACT [] xref: MESH:C567288 is_a: DOID:0060135 ! apraxia is_a: DOID:0060244 ! specific language impairment [Term] id: DOID:9008854 name: Autosomal Recessive Nonsyndromic Deafness 125 def: "A disease characterized by congenital nonsyndromic sensorineural hearing loss. Caused by homozygous mutation in the GAS2 gene on chromosome 11p14." [MIM:620877] synonym: "Deafness, autosomal recessive 125" EXACT [] synonym: "DFNB125" EXACT [] xref: MIM:620877 is_a: DOID:0050565 ! autosomal recessive nonsyndromic deafness created_by: tutajm creation_date: 2024-07-17T16:57:39Z [Term] id: DOID:9008855 name: Brachyolmia Type 2 alt_id: MIM:613678 alt_id: RDO:0012563 synonym: "BCYM2" EXACT [] synonym: "brachyolmia, Maroteaux type" EXACT [] synonym: "spondyloepiphyseal dysplasia, Maroteaux type" EXACT [] xref: MESH:C563218 is_a: DOID:0050690 ! brachyolmia [Term] id: DOID:9008856 name: HIV-Associated Lipodystrophy Syndrome def: "Defective metabolism leading to fat maldistribution in patients infected with HIV. The etiology appears to be multifactorial and probably involves some combination of infection-induced alterations in metabolism, direct effects of antiretroviral therapy, and patient-related factors." [MESH:D039682] synonym: "HALS" EXACT [] synonym: "HIV Associated Lipodystrophy" EXACT [] synonym: "HIV Lipodystrophy Syndrome" EXACT [] xref: EFO:1001348 xref: MESH:D039682 is_a: DOID:225 ! syndrome is_a: DOID:526 ! human immunodeficiency virus infectious disease is_a: DOID:811 ! lipodystrophy [Term] id: DOID:9008857 name: Postaxial Polydactyly, Type A8 def: "A disease characterized by the presence of postaxial extra digits (hexadactyly) on the hands and/or the feet. The anomalous digits are well formed and have nails. PAPA8 is caused by homozygous mutation in the GLI1 gene on chromosome 12q13. (OMIM)" [] synonym: "PAPA8" EXACT [] xref: MIM:618123 is_a: DOID:9003071 ! Postaxial Polydactyly created_by: slaulede creation_date: 2019-01-16T16:59:48Z [Term] id: DOID:9008858 name: Arthrogryposis, Impaired Intellectual Development, and Seizures synonym: "AMRS" EXACT [] synonym: "arthrogryposis, mental retardation, and seizures" EXACT [] synonym: "AUTISM SPECTRUM DISORDER - EPILEPSY - ARTHROGRYPOSIS SYNDROME" EXACT [] xref: MIM:615553 is_a: DOID:0080954 ! arthrogryposis multiplex congenita is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy [Term] id: DOID:9008860 name: Hip Injuries def: "General or unspecified injuries involving the hip." [MESH:D025981] xref: MESH:D025981 xref: RDO:0005806 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9008861 name: Wound Infection def: "Invasion of a wound by pathogenic microorganisms." [MESH:D014946] synonym: "Wound Infections" EXACT [] xref: MESH:D014946 xref: RDO:0006652 is_a: DOID:9004384 ! Bacterial Infections and Mycoses [Term] id: DOID:9008862 name: Short Stature, Developmental Delay, and Congenital Heart Defects synonym: "SDDHD" EXACT [] synonym: "TKT deficiency" EXACT [] synonym: "transketolase deficiency" EXACT [] xref: MIM:617044 is_a: DOID:1682 ! congenital heart disease is_a: DOID:9007661 ! Dwarfism is_a: DOID:9008086 ! Developmental Disabilities created_by: rgd creation_date: 2016-08-10T00:00:00Z [Term] id: DOID:9008863 name: Malignant Granular Cell Tumor is_a: DOID:0050687 ! cell type cancer is_a: DOID:2411 ! granular cell tumor created_by: rgd creation_date: 2017-12-13T00:00:00Z [Term] id: DOID:9008864 name: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS synonym: "NEDSPLB" EXACT [] synonym: "neurodevelopmental disorder with spasticity, hypomyelinating leukodystrophy, and brain abnormalities" EXACT [] synonym: "perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis" EXACT [] synonym: "PMGYCHA" EXACT [] xref: MIM:616531 is_a: DOID:0070338 ! cerebellar hypoplasia is_a: DOID:0080924 ! bilateral perisylvian polymicrogyria is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: rgd creation_date: 2017-03-30T00:00:00Z [Term] id: DOID:9008865 name: Entamoebiasis def: "Infection with amoebae of the genus ENTAMOEBA. Infection with E. histolytica causes DYSENTERY, AMEBIC and LIVER ABSCESS, AMEBIC." [MESH:D004749] synonym: "amoebiasis due to Entamoeba histolytica" EXACT [] synonym: "entamoebiases" EXACT [] xref: MESH:C531613 xref: MESH:D004749 is_a: DOID:9181 ! amebiasis [Term] id: DOID:9008866 name: Partially Edentulous Jaw def: "Absence of teeth from a portion of the mandible and/or maxilla." [MESH:D007576] xref: MESH:D007576 is_a: DOID:9001706 ! Edentulous Jaw [Term] id: DOID:9008867 name: C3 Glomerulopathy 3 synonym: "C3G3" EXACT [] synonym: "C3 GLOMERULONEPHRITIS" EXACT [] synonym: "CFHR5 deficiency" EXACT [] synonym: "CFHR5 nephropathy" EXACT [] synonym: "CFH-RELATED DENSE DEPOSIT DISEASE / MEMBRANOPROLIFERATIVE GLOMERULONEPHRITIS TYPE II" BROAD [] synonym: "nephropathy due to CFHR5 deficiency" EXACT [] xref: MIM:614809 is_a: DOID:2920 ! membranoproliferative glomerulonephritis [Term] id: DOID:9008868 name: Chromosome 12 Ring xref: MESH:C538298 is_a: DOID:9006940 ! Ring Chromosomes [Term] id: DOID:9008869 name: Lattice Corneal Dystrophy Type 1 alt_id: MIM:122200 synonym: "Biber-Haab-Dimmer Dystrophy" EXACT [] synonym: "CDL1" EXACT [] synonym: "Lattice Corneal Dystrophy Type I" EXACT [] synonym: "LCD1" EXACT [] xref: MESH:C537881 is_a: DOID:8943 ! lattice corneal dystrophy [Term] id: DOID:9008870 name: Chromosome 16q12 Duplication Syndrome def: "Characterized by early-onset progressive cone dystrophy, with early blue cone involvement." [] synonym: "cone dystrophy with early-onset tritanopic color vision defect" EXACT [] xref: MIM:619649 is_a: DOID:0050795 ! cone dystrophy is_a: DOID:0060429 ! chromosomal duplication syndrome created_by: mtutaj creation_date: 2021-12-07T17:11:46Z [Term] id: DOID:9008871 name: Hand Deformities def: "Alterations or deviations from normal shape or size which result in a disfigurement of the hand." [MESH:D006226] synonym: "Hand Deformity" EXACT [] xref: MESH:D006226 xref: RDO:0002624 is_a: DOID:17 ! musculoskeletal system disease [Term] id: DOID:9008872 name: Autosomal Dominant Intellectual Developmental Disorder 73 def: "A highly variable neurodevelopmental disorder characterized by impaired intellectual development that ranges from mild to severe, speech delay, behavioral abnormalities, and nonspecific dysmorphic facial features. Caused by heterozygous mutation in the TAF4 gene on chromosome 20q13." [MIM:620450] synonym: "MRD73" EXACT [] synonym: "T4ND" EXACT [] synonym: "TAF4-related NDD" EXACT [] synonym: "TAF4-related neurodevelopmental disorder" EXACT [] xref: MIM:620450 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: mtutaj creation_date: 2023-07-25T10:15:27Z [Term] id: DOID:9008873 name: Chromosome 19, Trisomy 19q synonym: "Duplication 19q" EXACT [] synonym: "Trisomy 19q" EXACT [] xref: MESH:C538311 is_a: DOID:9003960 ! Trisomy [Term] id: DOID:9008874 name: ARTERIAL TORTUOSITY-BONE FRAGILITY SYNDROME def: "This disease is characterized by congenital severe tortuosity of the aorta and its side branches, including the carotid, pulmonary, and subclavian arteries. Affected individuals experience prenatal and neonatal fractures; fracture risk appears to diminish with age." [MIM:620908] synonym: "ATBFS" EXACT [] xref: MIM:620908 is_a: DOID:0080001 ! bone disease is_a: DOID:65 ! connective tissue disease created_by: slaulederkind creation_date: 2024-09-13T10:12:54Z [Term] id: DOID:9008875 name: Steatitis alt_id: DOID:4025 def: "A disease of cats and mink characterized by a marked inflammation of adipose tissue and the deposition of 'ceroid' pigment in the interstices of the adipose cells. It is believed to be caused by feeding diets containing too much unsaturated fatty acid and too little vitamin E. (Merck Veterinary Manual, 5th ed; Stedman, 25th ed)" [] synonym: "steatitides" EXACT [] xref: EFO:1001191 xref: MESH:D013231 is_a: DOID:9004985 ! Animal Diseases is_a: DOID:9006575 ! Vitamin E Deficiency [Term] id: DOID:9008876 name: Samson Gardner Syndrome synonym: "Craniosynostosis, microcephaly, hydrancephaly, humero-radial synostosis, and thumb aplasia" EXACT [] xref: MESH:C537230 is_a: DOID:225 ! syndrome is_a: DOID:9009045 ! Gardner Syndrome [Term] id: DOID:9008877 name: Familial Partial Lipodystrophy Type 9 def: "An autosomal recessive metabolic disorder characterized by the loss of adipose tissue resulting in a lean appearance with muscular hypertrophy, usually most apparent in the limbs and trunk. Caused by homozygous mutation in the PLAAT3 gene on chromosome 11q12." [MIM:620683] synonym: "FPLD9" EXACT [] xref: MIM:620683 is_a: DOID:0050440 ! familial partial lipodystrophy created_by: tutajm creation_date: 2024-01-31T09:39:43Z [Term] id: DOID:9008879 name: Self Mutilation def: "The act of injuring one's own body to the extent of cutting off or permanently destroying a limb or other essential part of a body." [MESH:D012652] xref: MESH:D012652 is_a: DOID:9001600 ! Wounds and Injuries [Term] id: DOID:9008881 name: Coronary Artery Disease, Development of, in HIV xref: MESH:C563569 is_a: DOID:3393 ! coronary artery disease is_a: DOID:526 ! human immunodeficiency virus infectious disease [Term] id: DOID:9008882 name: IMMUNODEFICIENCY 119 def: "This disease is an autosomal recessive immunologic disorder characterized by the onset of recurrent upper and lower respiratory infections and warts in childhood. Affected individuals are susceptible to chronic DNA-based viral infections, including HPV and HSV. Laboratory studies show hypogammaglobulinemia, lymphopenia, reduced memory B cells, and neutropenia, resulting in altered adaptive immunity." [OMIM:620825] synonym: "IMD119" EXACT [] xref: OMIM:620825 is_a: DOID:612 ! primary immunodeficiency disease created_by: slaulederkind creation_date: 2024-07-11T16:25:14Z [Term] id: DOID:9008883 name: Major Affective Disorder 8 alt_id: MIM:612357 synonym: "MAFD8" EXACT [] xref: MESH:C567530 is_a: DOID:3312 ! bipolar disorder [Term] id: DOID:9008884 name: Decompression Sickness def: "A condition occurring as a result of exposure to a rapid fall in ambient pressure. Gases, nitrogen in particular, come out of solution and form bubbles in body fluid and blood. These gas bubbles accumulate in joint spaces and the peripheral circulation impairing tissue oxygenation causing disorientation, severe pain, and potentially death." [MESH:D003665] synonym: "Bends" EXACT [] synonym: "Caisson Disease" EXACT [] synonym: "Caisson Diseases" EXACT [] xref: MESH:D003665 is_a: DOID:9002160 ! Barotrauma [Term] id: DOID:9008885 name: Staphylococcal Infections def: "Infections with bacteria of the genus STAPHYLOCOCCUS." [MESH:D013203] synonym: "Methicillin-Susceptible Staphylococcus Aureus Infection" NARROW [] synonym: "skin and soft tissue Staphylococcus aureus infection" NARROW [] synonym: "Staphylococcal Infection" EXACT [] synonym: "Vancomycin-Resistant Staphylococcus Aureus Infection" NARROW [] xref: EFO:0005681 xref: EFO:0008557 xref: EFO:0008558 xref: EFO:1001489 xref: MESH:D013203 is_a: DOID:9002823 ! Gram-Positive Bacterial Infections [Term] id: DOID:9008887 name: Microvascular Angina def: "ANGINA PECTORIS or angina-like chest pain with a normal coronary arteriogram and positive EXERCISE TEST. The cause of the syndrome is unknown. While its recognition is of clinical importance, its prognosis is excellent. (Braunwald, Heart Disease, 4th ed, p1346; Jablonski Dictionary of Syndromes & Eponymic Diseases, 2d ed). It is different from METABOLIC SYNDROME X, a syndrome characterized by INSULIN RESISTANCE and HYPERINSULINEMIA, that has increased risk for cardiovascular disease." [MESH:D017566] synonym: "Angina Pectoris with Normal Coronary Arteriogram" EXACT [] synonym: "Angina Syndrome X" EXACT [] synonym: "Angina X Syndromes" EXACT [] synonym: "Cardiac Syndrome X" EXACT [] xref: MESH:D017566 is_a: DOID:9000483 ! Angina Pectoris [Term] id: DOID:9008888 name: Spastic Paraplegia 93, Autosomal Recessive def: "A disease characterized by a spectrum of early-onset pure to complex hereditary spastic paraplegia phenotypes associated with a longer survival on one end and neurodevelopmental delay with severe hypotonia on the other. Caused by homozygous or compound heterozygous mutation in the NFU1 gene on chromosome 2p13." [MIM:620938] synonym: "SPG93" EXACT [] xref: MIM:620938 is_a: DOID:2476 ! hereditary spastic paraplegia created_by: tutajm creation_date: 2024-09-23T12:58:46Z [Term] id: DOID:9008889 name: White Forelock with Malformations alt_id: MIM:277740 xref: GARD:10081 xref: MESH:C536700 xref: MONDO:0010199 xref: ORDO:2475 is_a: DOID:10123 ! pigmentation disease is_a: DOID:421 ! hair disease is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008890 name: Pseudohypoaldosteronism, Type IIE alt_id: RDO:9000659 synonym: "CUL3-RELATED CONDITION" BROAD [] synonym: "CUL3-RELATED DISORDER" BROAD [] synonym: "PHA2E" EXACT [] synonym: "PSEUDOHYPOALDOSTERONISM TYPE 2E" EXACT [] xref: MIM:614496 is_a: DOID:4479 ! pseudohypoaldosteronism [Term] id: DOID:9008891 name: Splenogonadal Fusion with Limb Defects and Micrognathia alt_id: MIM:183300 synonym: "splenogonadal fusion, limb defects, micrognatia" EXACT [] synonym: "Splenogonadal fusion limb defects syndrome" EXACT [] synonym: "Splenogonadal Fusion Limb Defect Syndrome" EXACT [] xref: MESH:C537318 is_a: DOID:9006294 ! Congenital Limb Deformities is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008892 name: Intellectual Developmental Disorder with Dysmorphic Facies and Ptosis def: "An autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. (OMIM)" [] synonym: "BRPF1-RELATED CONDITION" EXACT [] synonym: "IDDDFP" EXACT [] xref: EFO:0009070 xref: MIM:617333 is_a: DOID:0060260 ! ptosis is_a: DOID:10348 ! blepharophimosis is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9008514 ! Psychomotor Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008893 name: Dystocia def: "Slow or difficult OBSTETRIC LABOR or CHILDBIRTH." [MESH:D004420] synonym: "Dystocias" EXACT [] xref: EFO:1000911 xref: MESH:D004420 xref: MONDO:0006737 is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:9008894 name: Samson Viljoen Syndrome xref: MESH:C537231 is_a: DOID:225 ! syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9002049 ! Anophthalmia is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9008499 ! Microstomia is_a: DOID:9296 ! cleft lip [Term] id: DOID:9008895 name: Familial Hidradenitis Suppurativa synonym: "familial acne inversa" EXACT [] xref: MESH:C538118 is_a: DOID:2280 ! hidradenitis suppurativa [Term] id: DOID:9008897 name: Diffuse Mesangial Sclerosis synonym: "Diffuse isolated mesangial sclerosis" EXACT [] synonym: "Familial mesangial sclerosis" EXACT [] synonym: "Nephrotic syndrome, early onset with diffuse mesangial sclerosis" EXACT [] xref: MESH:C537346 is_a: DOID:1184 ! nephrotic syndrome is_a: DOID:9007896 ! Sclerosis [Term] id: DOID:9008898 name: Vitelliform Macular Dystrophy 4 def: "A disease characterized by late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, preservation of retinal pigment epithelium (RPE) reflectivity, deposits above the RPE between the ellipsoid and outer segment interdigitation lines on spectral-domain optical coherence tomography (SD-OCT), and normal or borderline results on electrooculography (EOG). (OMIM)" [] synonym: "IMPG1-RELATED CONDITION" BROAD [] synonym: "VMD4" EXACT [] xref: MIM:616151 xref: MONDO:0014508 is_a: DOID:0050661 ! vitelliform macular dystrophy created_by: rgd creation_date: 2017-05-04T00:00:00Z [Term] id: DOID:9008900 name: Spinal Osteochondrosis def: "A bone disorder involving ossification centers (EPIPHYSES) of the VERTEBRAL COLUMN." [MESH:D055035] synonym: "Osteochondrosis of Spine" EXACT [] synonym: "Spinal Osteochondroses" EXACT [] synonym: "Spine Osteochondroses" EXACT [] synonym: "Spine Osteochondrosis" EXACT [] xref: EFO:0008576 xref: MESH:D055035 is_a: DOID:0060564 ! spinal disease is_a: DOID:8125 ! osteochondrosis [Term] id: DOID:9008901 name: Anencephaly and Spina Bifida X-Linked alt_id: RDO:0001916 synonym: "X-linked anencephaly-spina bifida" EXACT [] xref: MESH:C536359 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0060668 ! anencephaly is_a: DOID:0080016 ! spina bifida [Term] id: DOID:9008902 name: Polycystic Bone Disease alt_id: MIM:604771 xref: MESH:C536324 is_a: DOID:9008327 ! Bone Cysts [Term] id: DOID:9008903 name: Uropathy Distal Obstructive Polydactyly xref: MESH:C536483 xref: RDO:0002084 is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9008905 name: Oocyte/Zygote/Embryo Maturation Arrest 18 def: "A female infertility due to early embryonic arrest caused by homozygous or compound heterozygous mutation in the NLRP2 gene on chromosome 19q13." [] synonym: "OZEMA18" EXACT [] xref: MIM:620332 is_a: DOID:9007456 ! Female Infertility created_by: mtutaj creation_date: 2023-04-18T09:39:30Z [Term] id: DOID:9008906 name: Myotoxicity def: "Damage to the muscle or its function secondary to toxic substances such as drugs used in CHEMOTHERAPY; IMMUNOTHERAPY; or RADIATION. (MESH)" [] synonym: "Drug Associated Myopathies" EXACT [] synonym: "Drug Associated Myopathy" EXACT [] synonym: "Drug Induced Myopathies" EXACT [] synonym: "Drug Induced Myopathy" EXACT [] synonym: "Drug Related Myopathies" EXACT [] synonym: "Drug Related Myopathy" EXACT [] synonym: "musculoskeletal toxicity" EXACT [] synonym: "Myalgia-Arthralgia Syndrome" EXACT [] synonym: "Toxic Myopathies" EXACT [] synonym: "Toxic Myopathy" EXACT [] xref: EFO:0011055 xref: MESH:D000081030 is_a: DOID:0080000 ! muscular disease is_a: DOID:9000111 ! Radiation Injuries is_a: DOID:9004611 ! Pathologic Processes is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions created_by: mtutaj creation_date: 2020-01-30T17:53:31Z [Term] id: DOID:9008907 name: Immuno-Hemolytic Anemia synonym: "Familial auto-immune hemolytic anemia" EXACT [] xref: MESH:C538437 xref: RDO:0004409 is_a: DOID:718 ! autoimmune hemolytic anemia [Term] id: DOID:9008908 name: Diffuse Corticomeningeal Angiomatosis of Divry and Van Bogaert alt_id: MIM:206570 synonym: "Divry-Van Bogaert syndrome" EXACT [] xref: MESH:C536367 is_a: DOID:9004079 ! Angiomatosis is_a: DOID:9007502 ! Brain Neoplasms [Term] id: DOID:9008909 name: Stuve-Wiedemann Syndrome 1 alt_id: MIM:601559 synonym: "SCHWARTZ-JAMPEL SYNDROME, NEONATAL" EXACT [] synonym: "Schwartz Jampel syndrome neonatal" EXACT [] synonym: "SCHWARTZ-JAMPEL SYNDROME, TYPE 2" EXACT [] synonym: "SJS2" EXACT [] synonym: "STUVE-WIEDEMANN/SCHWARTZ-JAMPEL TYPE 2 SYNDROME" EXACT [] synonym: "STWS" EXACT [] synonym: "STWS1" EXACT [] synonym: "Stüve-Wiedemann syndrome" EXACT [] synonym: "STÜVE-WIEDEMANN SYNDROME 1" EXACT [] synonym: "SWS" EXACT [] xref: MESH:C537502 is_a: DOID:9004577 ! Stuve-Wiedemann Syndrome [Term] id: DOID:9008910 name: autosomal recessive distal hereditary motor neuronopathy 11 def: "A disease characterized by onset of slowly progressive distal muscle weakness and atrophy and spasticity of the lower limbs in the first decade of life. Caused by homozygous mutation in the RTN2 gene on chromosome 19q13." [MIM:620854] synonym: "HMNR11" EXACT [] synonym: "Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity" EXACT [] xref: MIM:620854 is_a: DOID:0111197 ! autosomal recessive distal hereditary motor neuronopathy created_by: tutajm creation_date: 2024-07-17T15:14:04Z [Term] id: DOID:9008911 name: Leg Injuries def: "General or unspecified injuries involving the leg." [MESH:D007869] synonym: "Leg Injury" EXACT [] xref: EFO:0009508 xref: MESH:D007869 xref: RDO:0005588 is_a: DOID:9004073 ! limb injury [Term] id: DOID:9008912 name: Ovalocytosis, Malaysian-Melanesian-Filipino Type alt_id: MIM:109270 alt_id: MIM:166900 alt_id: RDO:0014641 alt_id: RDO:0014642 synonym: "EL4" EXACT [] synonym: "ELLIPTOCYTOSIS 4" EXACT [] synonym: "ELLIPTOCYTOSIS, STOMATOCYTIC HEREDITARY" EXACT [] synonym: "HE, STOMATOCYTIC" EXACT [] synonym: "SAO" EXACT [] synonym: "southeast asian ovalocytosis" EXACT [] xref: MESH:C566230 xref: MESH:C566231 is_a: DOID:2373 ! hereditary elliptocytosis [Term] id: DOID:9008913 name: Chromosome 17q23.1-q23.2 Duplication Syndrome xref: MIM:613618 is_a: DOID:0060429 ! chromosomal duplication syndrome is_a: DOID:11836 ! clubfoot created_by: mtutaj creation_date: 2022-08-22T10:16:04Z [Term] id: DOID:9008914 name: Lead Poisoning def: "Poisoning that results from chronic or acute ingestion, injection, inhalation, or skin absorption of LEAD or lead compounds." [MESH:D007855] synonym: "Lead Poisonings" EXACT [] xref: MESH:D007855 is_a: DOID:9000046 ! Poisoning [Term] id: DOID:9008915 name: Ataxia with Fasciculations alt_id: MIM:108700 xref: MESH:C566246 is_a: DOID:9001745 ! Fasciculation is_a: DOID:9004866 ! Ataxia [Term] id: DOID:9008916 name: Prenatal Bowing alt_id: MIM:264050 xref: MESH:C564873 is_a: DOID:0080006 ! bone development disease [Term] id: DOID:9008917 name: Immunodeficiency 122 def: "An autosomal recessive inborn error of immunity characterized by early-infantile onset of recurrent viral and bacterial infections of the respiratory tract and skin. Caused by homozygous mutation in the POLD3 gene on chromosome 11q13." [MIM:620869] synonym: "IMD122" EXACT [] xref: MIM:620869 is_a: DOID:612 ! primary immunodeficiency disease created_by: tutajm creation_date: 2024-07-17T15:25:50Z [Term] id: DOID:9008918 name: Hypomyelinating Leukodystrophy 27 def: "This disease is an autosomal recessive neurologic disorder characterized by global developmental delay with impaired motor and intellectual development apparent from infancy. Caused by homozygous mutation in the POLR1A gene on chromosome 2p11." [MIM:620675] synonym: "HLD27" EXACT [] synonym: "POLR1A-RELATED CONDITION" BROAD [] xref: MIM:620675 is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: tutajm creation_date: 2024-01-19T10:43:32Z [Term] id: DOID:9008920 name: Spinal Arterial Venous Malformations with Cutaneous Hemangiomas xref: MESH:C566282 xref: RDO:0014678 is_a: DOID:11294 ! arteriovenous malformation is_a: DOID:255 ! hemangioma [Term] id: DOID:9008923 name: Chromosome 3, Monosomy 3q27 synonym: "Deletion 3q27" EXACT [] synonym: "Monosomy 3q27" EXACT [] xref: MESH:C536810 is_a: DOID:9008165 ! Chromosome Deletion [Term] id: DOID:9008924 name: Female Pseudohermaphroditism with Skeletal Anomalies alt_id: MIM:264270 xref: MESH:C564869 is_a: DOID:9005004 ! Musculoskeletal Abnormalities is_a: DOID:9005851 ! 46, XX Disorders of Sex Development [Term] id: DOID:9008925 name: Familial Multiple Trichodiscomas alt_id: MIM:190340 def: "An autosomal dominant dermatologic condition characterized by the appearance of multiple skin-colored, firm, flat or dome-shaped papules on the pinnae and the central area of the face in childhood or adolescence. (OMIM)" [] synonym: "familial multiple discoid fibromas" EXACT [] synonym: "FMDF" EXACT [] synonym: "hereditary multiple trichodiscomas" EXACT [] xref: MESH:C536847 is_a: DOID:0050871 ! fibroma is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9007071 ! Hereditary Neoplastic Syndromes [Term] id: DOID:9008926 name: Arbovirus Encephalitis def: "Infections of the brain caused by arthropod-borne viruses (i.e., arboviruses) primarily from the families TOGAVIRIDAE; FLAVIVIRIDAE; BUNYAVIRIDAE; REOVIRIDAE; and RHABDOVIRIDAE. Life cycles of these viruses are characterized by ZOONOSES, with birds and lower mammals serving as intermediate hosts. The virus is transmitted to humans by the bite of mosquitoes (CULICIDAE) or TICKS. Clinical manifestations include fever, headache, alterations of mentation, focal neurologic deficits, and COMA. (From Clin Microbiol Rev 1994 Jan;7(1):89-116; Walton, Brain's Diseases of the Nervous System, 10th ed, p321)" [] synonym: "Arbovirus Encephalitides" EXACT [] synonym: "Arthropod-Borne Encephalitides" EXACT [] synonym: "Arthropod Borne Encephalitis" EXACT [] synonym: "Arthropod-Borne Viral Encephalitides" EXACT [] synonym: "Arthropod Borne Viral Encephalitis" EXACT [] synonym: "Mosquito-Borne Encephalitides" EXACT [] synonym: "Mosquito Borne Encephalitis" EXACT [] xref: MESH:D004671 is_a: DOID:646 ! viral encephalitis is_a: DOID:9002150 ! RNA Virus Infections is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:9008927 name: Epidermolysis Bullosa Simplex 4, Localized or Generalized Intermediate, Autosomal Recessive synonym: "EBNS" EXACT [] synonym: "EBS4" EXACT [] synonym: "Epidermolysis Bullosa, Nonspecific, Autosomal Recessive" EXACT [] xref: MIM:615028 is_a: DOID:4644 ! epidermolysis bullosa simplex [Term] id: DOID:9008928 name: Smear Layer def: "Adherent debris produced when cutting the enamel or dentin in cavity preparation. It is about 1 micron thick and its composition reflects the underlying dentin, although different quantities and qualities of smear layer can be produced by the various instrumentation techniques. Its function is presumed to be protective, as it lowers dentin permeability. However, it masks the underlying dentin and interferes with attempts to bond dental material to the dentin." [MESH:D016369] xref: MESH:D016369 is_a: DOID:9007861 ! Dental Deposits [Term] id: DOID:9008929 name: Obstetric Paralysis def: "Paralysis of an infant resulting from injury received at birth. (From Dorland, 27th ed)" [MESH:D010246] synonym: "Obstetrical Paralyses" EXACT [] synonym: "Obstetrical Paralysis" EXACT [] synonym: "Obstetric Paralyses" EXACT [] xref: EFO:1001385 xref: MESH:D010246 is_a: DOID:9004545 ! Birth Injuries [Term] id: DOID:9008931 name: X-Linked Intellectual Developmental Disorder 113 def: "A disease characterized by mild speech delay and learning difficulties in affected males. Caused by hemizygous mutation in the CSTF2 gene on chromosome Xq22." [MIM:301116] synonym: "XLID113" EXACT [] xref: MIM:301116 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: tutajm creation_date: 2024-02-12T10:17:27Z [Term] id: DOID:9008932 name: ALAGILLE SYNDROME 2 synonym: "ALGS2" EXACT [] synonym: "NOTCH2-RELATED CONDITION" BROAD [] xref: MIM:610205 is_a: DOID:9245 ! Alagille syndrome created_by: slaulederkind creation_date: 2024-02-08T14:41:07Z [Term] id: DOID:9008933 name: Kozlowski-Krajewska Syndrome xref: MESH:C537615 is_a: DOID:1059 ! intellectual disability is_a: DOID:11193 ! syndactyly is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome is_a: DOID:421 ! hair disease is_a: DOID:9001487 ! Facies [Term] id: DOID:9008934 name: Van der Woude Syndrome 2 synonym: "VWS2" EXACT [] xref: MESH:C536529 xref: MIM:606713 xref: MONDO:0011712 is_a: DOID:0060239 ! Van der Woude syndrome is_a: DOID:674 ! cleft palate is_a: DOID:9007653 ! Multiple Abnormalities is_a: DOID:9296 ! cleft lip [Term] id: DOID:9008935 name: Camptodactyly Syndrome Guadalajara Type is_a: DOID:225 ! syndrome is_a: DOID:9004795 ! Congenital Hand Deformities created_by: mtutaj creation_date: 2020-05-29T14:06:59Z [Term] id: DOID:9008936 name: Platelet Receptor for Collagen, Deficiency of xref: MESH:C565999 xref: RDO:0014485 is_a: DOID:2218 ! blood platelet disease [Term] id: DOID:9008937 name: Histiocytic Necrotizing Lymphadenitis def: "Development of lesions in the lymph node characterized by infiltration of the cortex or paracortex by large collections of proliferating histiocytes and complete or, more often, incomplete necrosis of lymphoid tissue." [MESH:D020042] synonym: "Histiocytic Necrotising Lymphadenitides" EXACT [] synonym: "Histiocytic Necrotising Lymphadenitis" EXACT [] synonym: "Kikuchi's Disease" EXACT [] synonym: "Kikuchi Disease" EXACT [] synonym: "Kikuchi Fujimoto's Disease" EXACT [] synonym: "Kikuchi Fujimoto Disease" EXACT [] synonym: "Kikuchi-Fujimotos Disease" EXACT [] synonym: "Kikuchi Necrotizing Lymphadenitis" EXACT [] synonym: "Kikuchis Disease" EXACT [] synonym: "Nosocomial Kikuchi's Disease" EXACT [] synonym: "Nosocomial Kikuchi Disease" EXACT [] synonym: "Nosocomial Kikuchis Disease" EXACT [] xref: MESH:D020042 xref: RDO:0007308 is_a: DOID:1602 ! lymphadenitis [Term] id: DOID:9008938 name: Microcornea, Rod-Cone Dystrophy, Cataract, and Posterior Staphyloma 1 synonym: "MRCS1" EXACT [] xref: MIM:619082 is_a: DOID:0050572 ! cone-rod dystrophy is_a: DOID:10124 ! corneal disease is_a: DOID:83 ! cataract created_by: mtutaj creation_date: 2020-11-04T11:51:19Z [Term] id: DOID:9008939 name: Breast Neoplasms def: "Tumors or cancer of the human BREAST." [MESH:D001943] synonym: "breast neoplasm" EXACT [] synonym: "breast tumor" EXACT [] synonym: "breast tumors" EXACT [] synonym: "BRIP1-related disorder" NARROW [] synonym: "human mammary neoplasm" EXACT [] synonym: "human mammary neoplasms" EXACT [] xref: EFO:0003869 xref: MESH:D001943 xref: MONDO:0021100 is_a: DOID:3463 ! breast disease is_a: DOID:9005424 ! Neoplasms by Site [Term] id: DOID:9008940 name: Dianzani Autoimmune Lymphoproliferative Syndrome alt_id: MIM:605233 synonym: "autoimmune lymphoproliferative disease without FAS mutations" EXACT [] synonym: "Autoimmune lymphoproliferative syndrome without FAS mutations" EXACT [] synonym: "Dianzani autoimmune lymphoproliferative disease" EXACT [] synonym: "Dianzani form of autoimmune lymphoproliferative disease" EXACT [] xref: MESH:C535950 is_a: DOID:225 ! syndrome is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:9008941 name: Muscle Hypertonia alt_id: OMIA:001592 def: "Abnormal increase in skeletal or smooth muscle tone. Skeletal muscle hypertonicity may be associated with PYRAMIDAL TRACT lesions or BASAL GANGLIA DISEASES." [MESH:D009122] synonym: "Detrusor Muscle Hypertonia" EXACT [] synonym: "Detrusor Muscle Hypertonias" EXACT [] synonym: "EFS" NARROW [] synonym: "episodic falling syndrome" NARROW [] synonym: "Hypermyotonia" EXACT [] synonym: "Hypermyotonias" EXACT [] synonym: "Infantile Hypertonia" EXACT [] synonym: "Infantile Hypertonias" EXACT [] synonym: "Muscle Hypertonias" EXACT [] synonym: "Muscle Tone Increased" EXACT [] synonym: "Muscular Hypertonicities" EXACT [] synonym: "Muscular Hypertonicity" EXACT [] synonym: "Neonatal Hypertonia" EXACT [] synonym: "Neonatal Hypertonias" EXACT [] synonym: "paroxysmal hypertonicity disorder" NARROW [] synonym: "Sphincter Hypertonia" EXACT [] synonym: "Sphincter Hypertonias" EXACT [] synonym: "Transient Hypertonia" EXACT [] synonym: "Transient Hypertonias" EXACT [] xref: MESH:D009122 is_a: DOID:9000165 ! Neuromuscular Manifestations [Term] id: DOID:9008942 name: Congenital Adrenal Hypoplasia with Precocious Puberty synonym: "Adrenal Insufficiency, Progressive, and Hypogonadotropic Hypogonadism" EXACT [] xref: MESH:C564568 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:0050811 ! congenital adrenal hyperplasia is_a: DOID:9007284 ! Precocious Puberty [Term] id: DOID:9008943 name: X-Linked Hypodontia alt_id: RDO:0002928 xref: MESH:C537148 is_a: DOID:0111664 ! ectodermal dysplasia 1 is_a: DOID:13714 ! anodontia [Term] id: DOID:9008944 name: Calcifying Epithelial Odontogenic Tumor synonym: "Pindborg tumor" EXACT [] xref: MESH:C537961 xref: RDO:0003885 is_a: DOID:9004464 ! Skin Neoplasms is_a: DOID:9006134 ! Odontogenic Tumors [Term] id: DOID:9008945 name: Gram-Negative Bacterial Infections def: "Infections caused by bacteria that show up as pink (negative) when treated by the gram-staining method." [MESH:D016905] synonym: "Gram-Negative Bacterial Infection" EXACT [] xref: MESH:D016905 xref: MONDO:0021678 is_a: DOID:104 ! bacterial infectious disease [Term] id: DOID:9008946 name: Multiple Pterygium Syndrome, X-Linked alt_id: MIM:312150 synonym: "X-linked lethal multiple pterygium syndrome" EXACT [] xref: GARD:4573 xref: MESH:C564072 xref: MONDO:0010716 xref: ORDO:79447 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9001487 ! Facies is_a: DOID:9005962 ! Multiple Pterygium Syndrome, Lethal Type is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9008947 name: Posterior Capsular Rupture, Ocular def: "A breach in the continuity of the posterior chamber of the eyeball." [MESH:D057851] xref: EFO:1001817 xref: MESH:D057851 xref: RDO:0007798 is_a: DOID:9006447 ! Eye Injuries [Term] id: DOID:9008948 name: Autoimmune Lymphoproliferative Syndrome, Type I, Autosomal Recessive xref: MESH:C566615 is_a: DOID:6688 ! autoimmune lymphoproliferative syndrome [Term] id: DOID:9008949 name: Hyperproglucagonemia synonym: "large molecular weight species of glucagon" EXACT [] xref: MESH:C564159 xref: MIM:145270 xref: MONDO:0007773 is_a: DOID:2978 ! carbohydrate metabolic disorder [Term] id: DOID:9008951 name: Hernandez Aguirre-Negrete Syndrome synonym: "Ehlers-Danlos syndrome with progeroid facies and mild mental retardation" EXACT [] synonym: "Hernández Aguirre-Negrete syndrome" EXACT [] xref: MESH:C538112 xref: RDO:0004045 is_a: DOID:13359 ! Ehlers-Danlos syndrome is_a: DOID:225 ! syndrome [Term] id: DOID:9008952 name: Breast Cancer, Familial synonym: "FAMILIAL CANCER OF BREAST" EXACT [] xref: MESH:C562840 is_a: DOID:1612 ! breast cancer [Term] id: DOID:9008953 name: Binge-Eating Disorder def: "A disorder associated with three or more of the following: eating until feeling uncomfortably full; eating large amounts of food when not physically hungry; eating much more rapidly than normal; eating alone due to embarrassment; feeling of disgust, DEPRESSION, or guilt after overeating. Criteria includes occurrence on average, at least 2 days a week for 6 months. The binge eating is not associated with the regular use of inappropriate compensatory behavior (i.e. purging, excessive exercise, etc.) and does not co-occur exclusively with BULIMIA NERVOSA or ANOREXIA NERVOSA. (From DSM-IV, 1994)" [MESH:D056912] synonym: "Binge-Eating Disorders" EXACT [] xref: MESH:D056912 xref: NCI:C97162 is_a: DOID:8670 ! eating disorder [Term] id: DOID:9008954 name: Renal Tubulopathy, Diabetes Mellitus, and Cerebellar Ataxia due to Duplication of Mitochondrial DNA alt_id: MIM:560000 xref: MESH:C564014 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:557 ! kidney disease is_a: DOID:9744 ! type 1 diabetes mellitus [Term] id: DOID:9008955 name: Primary Orthostatic Tremor synonym: "Shaky leg syndrome" EXACT [] xref: MESH:C536418 xref: RDO:0002006 is_a: DOID:9000495 ! Tremor is_a: DOID:9004211 ! Dizziness [Term] id: DOID:9008956 name: DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE def: "A disease characterized by intractable secretory diarrhea and massive protein loss due to leaky fenestrated capillaries. Features include early-onset anasarca, severe hypoalbuminemia, hypogammaglobulinemia, and hypertriglyceridemia, as well as electrolyte abnormalities." [MIM:618183] synonym: "DIAR10" EXACT [] synonym: "diarrhea-10" EXACT [] xref: MIM:618183 is_a: DOID:13250 ! diarrhea created_by: slaulede creation_date: 2019-01-10T18:24:50Z [Term] id: DOID:9008957 name: Urachal Cyst def: "Cyst occurring in a persistent portion of the urachus, presenting as an extraperitoneal mass in the umbilical region. It is characterized by abdominal pain, and fever if infected. It may rupture, leading to peritonitis, or it may drain through the umbilicus." [MESH:D014496] synonym: "Umbilical Cyst" EXACT [] synonym: "Umbilical Cysts" EXACT [] synonym: "Urachal Cysts" EXACT [] xref: MESH:D014496 is_a: DOID:9007583 ! Cysts [Term] id: DOID:9008958 name: Autosomal Recessive Dyskeratosis Congenita 7 synonym: "DKCB7" EXACT [] is_a: DOID:9004373 ! Autosomal Recessive Dyskeratosis Congenita created_by: rgd creation_date: 2015-11-10T00:00:00Z [Term] id: DOID:9008959 name: Liang-Wang Syndrome synonym: "LIWAS" EXACT [] xref: MIM:618729 xref: MONDO:0032886 is_a: DOID:225 ! syndrome is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: mtutaj creation_date: 2020-01-13T11:17:46Z [Term] id: DOID:9008960 name: Pancreatic Adenoma xref: MESH:C538110 is_a: DOID:657 ! adenoma is_a: DOID:9009186 ! Pancreatic Benign Neoplasm [Term] id: DOID:9008961 name: Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities synonym: "NEDMILEG" EXACT [] synonym: "Neurodevelopmental Disorder with Microcephaly, Impaired Language, Epilepsy, and Gait Abnormalities, Autosomal Dominant" EXACT [] xref: MIM:619092 is_a: DOID:10907 ! microcephaly is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005466 ! Language Development Disorders is_a: DOID:9006230 ! Neurologic Gait Disorders created_by: mtutaj creation_date: 2020-11-23T16:12:18Z [Term] id: DOID:9008962 name: Pierre Robin Sequence with Facial and Digital Anomalies alt_id: MIM:311895 xref: MESH:C564078 is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome is_a: DOID:9001487 ! Facies [Term] id: DOID:9008963 name: Robin Sequence and Oligodactyly alt_id: MIM:172880 synonym: "Pierre Robin syndrome and oligodactyly" EXACT [] xref: MESH:C535688 is_a: DOID:4258 ! Weissenbacher-Zweymuller syndrome [Term] id: DOID:9008965 name: Bronchomalacia alt_id: MIM:211450 def: "A congenital or acquired condition of underdeveloped or degeneration of CARTILAGE in the BRONCHI. This results in a floppy bronchial wall making patency difficult to maintain. It is characterized by wheezing and difficult breathing." [MESH:D055091] synonym: "bronchi chondromalacia" EXACT [] synonym: "bronchi chondromalacias" EXACT [] synonym: "bronchomalacias" EXACT [] synonym: "chondromalacia of bronchi" EXACT [] synonym: "Williams-Campbell syndrome" EXACT [] xref: MESH:D055091 xref: MONDO:0008888 xref: ORDO:411501 is_a: DOID:9003700 ! Tracheobronchomalacia [Term] id: DOID:9008966 name: Blastocystis Infections def: "Infections with organisms of the genus BLASTOCYSTIS. The species B. hominis is responsible for most infections. Parasitologic surveys have generally found small numbers of this species in human stools, but higher positivity rates and organism numbers in AIDS patients and other immunosuppressed patients (IMMUNOCOMPROMISED HOST). Symptoms include ABDOMINAL PAIN; DIARRHEA; CONSTIPATION; VOMITING; and FATIGUE." [MESH:D016776] synonym: "Blastocystis Infection" EXACT [] synonym: "blastocystosis" EXACT [] xref: EFO:0007173 xref: MESH:D016776 xref: RDO:0006996 is_a: DOID:9002892 ! Parasitic Intestinal Diseases [Term] id: DOID:9008967 name: Brain Concussion def: "A nonspecific term used to describe transient alterations or loss of consciousness following closed head injuries. The duration of UNCONSCIOUSNESS generally lasts a few seconds, but may persist for several hours. Concussions may be classified as mild, intermediate, and severe. Prolonged periods of unconsciousness (often defined as greater than 6 hours in duration) may be referred to as post-traumatic coma (COMA, POST-HEAD INJURY). (From Rowland, Merritt's Textbook of Neurology, 9th ed, p418)" [MESH:D001924] synonym: "Brain Concussions" EXACT [] synonym: "Cerebral Concussion" EXACT [] synonym: "Cerebral Concussions" EXACT [] synonym: "Commotio Cerebri" EXACT [] synonym: "Intermediate Concussion" EXACT [] synonym: "Intermediate Concussions" EXACT [] synonym: "Mild Concussion" EXACT [] synonym: "Mild Concussions" EXACT [] synonym: "Mild Traumatic Brain Injury" EXACT [] synonym: "Severe Concussion" EXACT [] synonym: "Severe Concussions" EXACT [] xref: EFO:0011023 xref: MESH:D001924 xref: RDO:0005052 is_a: DOID:0081292 ! traumatic brain injury is_a: DOID:9006008 ! Closed Head Injuries [Term] id: DOID:9008968 name: Thanatophoric Dysplasia, Type I alt_id: MIM:187600 alt_id: RDO:0015077 synonym: "Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type" EXACT [] synonym: "Platyspondylic Lethal Skeletal Dysplasia, San Diego Type" EXACT [] synonym: "TD" EXACT [] synonym: "TD1" EXACT [] xref: MESH:C566844 is_a: DOID:13481 ! thanatophoric dysplasia [Term] id: DOID:9008969 name: Dandy Walker Variant xref: MESH:C535772 xref: RDO:0001073 is_a: DOID:2785 ! Dandy-Walker syndrome [Term] id: DOID:9008971 name: Inability to Smell Musk alt_id: MIM:254150 xref: MESH:C564980 is_a: DOID:9004042 ! Olfaction Disorders [Term] id: DOID:9008972 name: Hyperammonemia def: "Elevated level of AMMONIA in the blood. It is a sign of defective CATABOLISM of AMINO ACIDS or ammonia to UREA." [MESH:D022124] synonym: "HYPERAMMONAEMIA" RELATED [] synonym: "HYPERAMMONEMIA, TYPE III" NARROW [] xref: MESH:D022124 is_a: DOID:9004611 ! Pathologic Processes [Term] id: DOID:9008973 name: Familial Persistent Stuttering 4 synonym: "STUT4" EXACT [] xref: MIM:614668 is_a: DOID:0060243 ! stuttering [Term] id: DOID:9008974 name: Menke-Hennekam Syndrome 1 synonym: "CREBBP-RELATED CONDITION" BROAD [] synonym: "MKHK1" EXACT [] xref: EFO:0010252 xref: MIM:618332 is_a: DOID:9008706 ! Menke-Hennekam Syndrome created_by: mtutaj creation_date: 2019-02-25T12:19:33Z [Term] id: DOID:9008975 name: Gastrointestinal Hemorrhage def: "Bleeding in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM." [MESH:D006471] synonym: "gastrointestinal hemorrhages" EXACT [] synonym: "hematochezia" EXACT [] synonym: "hematochezias" EXACT [] xref: HP:0002239 xref: MESH:D006471 is_a: DOID:77 ! gastrointestinal system disease is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9008976 name: Bovine Trypanosomiasis def: "Infection in cattle caused by various species of trypanosomes." [MESH:D014354] synonym: "Bovine Trypanosomiases" EXACT [] xref: MESH:D014354 xref: MONDO:0025271 is_a: DOID:10113 ! trypanosomiasis is_a: DOID:9004157 ! Protozoan Infections, Animal is_a: DOID:9004723 ! Cattle Diseases [Term] id: DOID:9008977 name: Facial Dysmorphism, Selective Tooth Agenesis, and Choroid Calcification alt_id: MIM:603589 xref: MESH:C567039 is_a: DOID:0050591 ! tooth agenesis is_a: DOID:182 ! calcinosis is_a: DOID:9001487 ! Facies [Term] id: DOID:9008978 name: Trichoodontoonychial Dysplasia xref: MESH:C564760 is_a: DOID:0080006 ! bone development disease is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4123 ! nail disease is_a: DOID:4535 ! hypotrichosis is_a: DOID:693 ! dental enamel hypoplasia [Term] id: DOID:9008979 name: Rett Syndrome, Congenital Variant synonym: "FOXG1 DISORDER" EXACT [] synonym: "FOXG1-RELATED CONDITION" EXACT [] xref: MIM:613454 xref: NCI:C176903 is_a: DOID:1206 ! Rett syndrome [Term] id: DOID:9008980 name: Subcutaneous Panniculitis-like T-Cell Lymphoma alt_id: MIM:618398 alt_id: RDO:0003353 def: "Subcutaneous panniculitis-like T-cell lymphoma (SPTCL) is an uncommon form of T-cell non-Hodgkin lymphoma in which cytotoxic CD8+ T cells infiltrate adipose tissue forming subcutaneous nodules. Both children and adults can be affected, with a median age at diagnosis of 36 years and a female gender bias. Most patients have accompanying systemic features such as fever or flank pain. A subset (about 20%) of patients develop hemophagocytic lymphohistiocytosis (HLH), usually associated with CD8+ T cells rimming adipocytes in the bone marrow. An infectious agent is not identified, and the disorder is believed to result from improperly activated inflammation. Immunosuppressive therapy may be helpful; hematopoietic bone marrow transplantation is usually curative. SPTCL is conferred by homozygous or compound heterozygous mutation in the HAVCR2 gene on chromosome 5q33. (OMIM)" [] synonym: "SPTCL" EXACT [] xref: EFO:1000552 xref: MESH:C537503 is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma is_a: DOID:1526 ! panniculitis [Term] id: DOID:9008981 name: Hyperlexia alt_id: MIM:238350 synonym: "Compulsive Reading" EXACT [] synonym: "Precocious Reading" EXACT [] xref: MESH:C565500 is_a: DOID:93 ! language disorder [Term] id: DOID:9008982 name: Welander Distal Myopathy, Swedish Type alt_id: MIM:604454 synonym: "Distal myopathy, Swedish" EXACT [] synonym: "Distal myopathy, Swedish type" EXACT [] synonym: "MUSCULAR DYSTROPHY, DISTAL, LATE-ONSET, AUTOSOMAL DOMINANT" EXACT [] synonym: "WDM" EXACT [] synonym: "WELANDER DISTAL MYOPATHY" EXACT [] xref: MESH:C536690 is_a: DOID:11720 ! distal myopathy [Term] id: DOID:9008983 name: Keratosis Palmaris et Plantaris with Clinodactyly alt_id: MIM:148520 xref: MESH:C563646 is_a: DOID:3390 ! palmoplantar keratosis [Term] id: DOID:9008985 name: Chromosome Inversion def: "An aberration in which a chromosomal segment is deleted and reinserted in the same place but turned 180 degrees from its original orientation, so that the gene sequence for the segment is reversed with respect to that of the rest of the chromosome." [MESH:D007446] synonym: "Chromosomal Inversion" EXACT [] synonym: "Chromosomal Inversions" EXACT [] synonym: "Chromosome Inversions" EXACT [] xref: MESH:D007446 xref: RDO:0005905 is_a: DOID:9004814 ! Chromosome Aberrations [Term] id: DOID:9008986 name: Osteogenesis Imperfecta Congenita, Microcephaly, and Cataracts alt_id: MIM:259410 xref: MESH:C537558 is_a: DOID:10907 ! microcephaly is_a: DOID:12347 ! osteogenesis imperfecta is_a: DOID:83 ! cataract [Term] id: DOID:9008987 name: Biliary Fistula def: "Abnormal passage in any organ of the biliary tract or between biliary organs and other organs." [MESH:D001658] synonym: "Biliary Fistulas" EXACT [] xref: MESH:D001658 is_a: DOID:9008038 ! Digestive System Fistula [Term] id: DOID:9008988 name: Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies 1 synonym: "IHPRF" EXACT [] synonym: "IHPRF1" EXACT [] synonym: "Infantile neuroaxonal neurodegeneration with facial dysmorphism" EXACT [] synonym: "NALCN-RELATED CONDITION" BROAD [] synonym: "NALCN-RELATED DISORDERS" BROAD [] xref: MIM:615419 is_a: DOID:9006603 ! Infantile Hypotonia with Psychomotor Retardation and Characteristic Facies [Term] id: DOID:9008989 name: Familial Letterer-Siwe Disease alt_id: MIM:246400 alt_id: RDO:0004557 synonym: "Histiocytosis X, acute disseminated" EXACT [] xref: MESH:C538636 is_a: DOID:2571 ! Langerhans-cell histiocytosis [Term] id: DOID:9008990 name: Cerebrooculonasal Syndrome alt_id: MIM:605627 xref: MESH:C565313 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9002049 ! Anophthalmia is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9008991 name: IMMUNODEFICIENCY 15 def: "Autosomal recessive or dominant syndromes in which there is a deficiency or defect in the mechanisms of immunity, either cellular or humoral." [] is_a: DOID:612 ! primary immunodeficiency disease created_by: slaulede creation_date: 2020-01-09T17:50:01Z [Term] id: DOID:9008992 name: ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME synonym: "ECTDS" EXACT [] xref: MIM:616029 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9008993 name: Myotonia alt_id: OMIA:000698 def: "Prolonged failure of muscle relaxation after contraction. This may occur after voluntary contractions, muscle percussion, or electrical stimulation of the muscle. Myotonia is a characteristic feature of MYOTONIC DISORDERS." [MESH:D009222] synonym: "Myotonias" EXACT [] synonym: "Myotonic Phenomenon" EXACT [] synonym: "Myotonic Phenomenons" EXACT [] synonym: "Percussion Myotonia" EXACT [] synonym: "Percussion Myotonias" EXACT [] xref: MESH:D009222 is_a: DOID:9000165 ! Neuromuscular Manifestations [Term] id: DOID:9008994 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SHORT STATURE, AND SPEECH DELAY def: "This disease is an autosomal recessive disorder characterized by global developmental delay with severely impaired intellectual development." [MIM:620027] synonym: "NEDMISS" EXACT [] xref: MIM:620027 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2023-07-18T13:32:04Z [Term] id: DOID:9008995 name: Posterior Column Ataxia alt_id: MIM:176250 synonym: "Biemond ataxia" EXACT [] xref: MESH:C536342 is_a: DOID:0050155 ! sensory system disease is_a: DOID:9277 ! primary cerebellar degeneration [Term] id: DOID:9008996 name: Heme Oxygenase 1 Deficiency alt_id: MIM:614034 synonym: "HMOX1D" EXACT [] synonym: "HMOX1-RELATED CONDITION" EXACT [] xref: MESH:C564200 is_a: DOID:2351 ! iron metabolism disease is_a: DOID:583 ! hemolytic anemia is_a: DOID:9006257 ! Growth Disorders [Term] id: DOID:9008997 name: X-Linked Intellectual Developmental Disorder 112 def: "A neurodevelopmental disorder characterized by developmental delay, with speech delay more prominent than motor delay, autism or autism traits, and variable dysmorphic features. Caused by hemizygous or heterozygous mutation in the ZMYM3 gene on chromosome Xq13." [MIM:301111] synonym: "XLID112" EXACT [] synonym: "ZMYM3-RELATED CONDITION" EXACT [] xref: MIM:301111 is_a: DOID:0060309 ! syndromic X-linked intellectual disability created_by: mtutaj creation_date: 2023-07-25T09:51:00Z [Term] id: DOID:9008998 name: Formaldehyde Poisoning synonym: "Formaldehyde Exposure" EXACT [] synonym: "Formaldehyde Toxicity" EXACT [] synonym: "Formalin Intoxication" EXACT [] synonym: "Formalin Toxicity" EXACT [] xref: MESH:C537268 xref: RDO:0003074 is_a: DOID:0060496 ! respiratory allergy [Term] id: DOID:9008999 name: Hereditary Pancreatitis synonym: "Autosomal Dominant Hereditary Pancreatitis" EXACT [] synonym: "Familial Pancreatitis" EXACT [] synonym: "Hereditary Chronic Pancreatitis" EXACT [] synonym: "HP" EXACT [] synonym: "HPC" EXACT [] synonym: "PANCREATITIS, CALCIFIC" NARROW [] synonym: "PANCREATITIS, CHRONIC PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO" NARROW [] synonym: "PANCREATITIS, CHRONIC, PROTECTION AGAINST" NARROW [] synonym: "PANCREATITIS, IDIOPATHIC, SUSCEPTIBILITY TO" RELATED [] synonym: "PCTT" EXACT [] xref: GARD:6632 xref: MESH:C537262 xref: MIM:167800 xref: MONDO:0008185 xref: OMIA:001403 xref: ORDO:676 is_a: DOID:9006190 ! Chronic Pancreatitis [Term] id: DOID:9009000 name: Zonular Cataract and Nystagmus synonym: "Nystagmus with congenital zonular cataract" EXACT [] xref: MESH:C536727 xref: RDO:0002390 is_a: DOID:83 ! cataract is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:9009001 name: Kaplan Plauchu Fitch Syndrome alt_id: MIM:201050 synonym: "Acrocraniofacial dysostosis" EXACT [] xref: MESH:C536892 is_a: DOID:225 ! syndrome is_a: DOID:2339 ! Crouzon syndrome is_a: DOID:9006294 ! Congenital Limb Deformities [Term] id: DOID:9009002 name: Thompson Baraitser Syndrome xref: MESH:C536515 is_a: DOID:0002116 ! pterygium is_a: DOID:11162 ! respiratory failure is_a: DOID:225 ! syndrome [Term] id: DOID:9009003 name: Erythropoietic Protoporphyria 2 def: "An autosomal dominant metabolic disorder of heme biosynthesis, resulting in abnormal accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX). (OMIM)" [] synonym: "AUTOSOMAL ERYTHROPOIETIC PROTOPORPHYRIA" BROAD [] synonym: "EPP2" EXACT [] xref: MIM:618015 is_a: DOID:13270 ! erythropoietic protoporphyria created_by: slaulede creation_date: 2019-01-16T16:52:35Z [Term] id: DOID:9009004 name: Cree Mental Retardation Syndrome alt_id: MIM:606851 xref: MESH:C564654 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9009005 name: Familial Thoracic Aortic Aneurysm 2 alt_id: MIM:607087 synonym: "AAT2" EXACT [] synonym: "FAA2" EXACT [] xref: MESH:C564627 is_a: DOID:14004 ! thoracic aortic aneurysm [Term] id: DOID:9009006 name: Mesomelic Dysplasia def: "A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae)." [] synonym: "mesomelic dwarf" EXACT [] synonym: "mesomelic dwarfism" EXACT [] synonym: "mesomelic dysplasias" EXACT [] xref: MONDO:0023599 is_a: DOID:2256 ! osteochondrodysplasia created_by: tutajm creation_date: 2024-07-08T16:15:45Z [Term] id: DOID:9009007 name: Tooth Abnormalities alt_id: RDO:0000709 def: "Congenital absence of or defects in structures of the teeth." [MESH:D014071] synonym: "Odontome" EXACT [] synonym: "Odontomes" EXACT [] synonym: "Teeth Abnormalities" EXACT [] synonym: "teeth abnormality" EXACT [] synonym: "tooth abnormality" EXACT [] xref: MESH:D014071 is_a: DOID:1091 ! tooth disease is_a: DOID:9006733 ! Stomatognathic System Abnormalities [Term] id: DOID:9009008 name: Temporomandibular Joint Dysfunction Syndrome def: "A symptom complex consisting of pain, muscle tenderness, clicking in the joint, and limitation or alteration of mandibular movement. The symptoms are subjective and manifested primarily in the masticatory muscles rather than the temporomandibular joint itself. Etiologic factors are uncertain but include occlusal dysharmony and psychophysiologic factors." [MESH:D013706] synonym: "Costen's Syndrome" EXACT [] synonym: "Costens Syndrome" EXACT [] synonym: "Costen Syndrome" EXACT [] synonym: "Myofascial Pain Dysfunction Syndrome, Temporomandibular Joint" EXACT [] synonym: "Temporomandibular Joint Syndrome" EXACT [] synonym: "TMJ Syndrome" EXACT [] xref: MESH:D013706 xref: RDO:0006677 is_a: DOID:225 ! syndrome is_a: DOID:431 ! myofascial pain syndrome is_a: DOID:9006281 ! Temporomandibular Joint Disorders [Term] id: DOID:9009009 name: Posterior Exchondrosis of Pinna alt_id: MIM:133500 synonym: "Ear Bump" EXACT [] xref: MESH:C565036 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9009010 name: Progressive Bifocal Chorioretinal Atrophy alt_id: MIM:600790 synonym: "CRAPB" EXACT [] synonym: "PBCRA" EXACT [] xref: MESH:C535356 is_a: DOID:2566 ! corneal dystrophy [Term] id: DOID:9009011 name: Cavitary Optic Disc Anomalies alt_id: MIM:611543 synonym: "CODA" EXACT [] xref: MESH:C566924 xref: RDO:0015134 is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9009012 name: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ATROPHY def: "An autosomal recessive disorder with highly variable manifestations and severity of these core features. The most severely affected individuals develop symptoms in utero, which may lead to spontaneous abortion or planned termination." [MIM:619072] synonym: "NEDSEBA" EXACT [] xref: MIM:619072 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9004462 ! Atrophy created_by: slaulede creation_date: 2021-01-18T15:38:58Z [Term] id: DOID:9009013 name: Hyperkeratosis Lenticularis Perstans alt_id: MIM:144150 synonym: "Flegel's disease" EXACT [] synonym: "Flegel disease" EXACT [] synonym: "HLP" EXACT [] synonym: "Hyperkeratosis lenticularis perstans of Flegel" EXACT [] xref: MESH:C538377 xref: RDO:0004353 is_a: DOID:161 ! keratosis [Term] id: DOID:9009014 name: Retinal Dystrophy and Obesity synonym: "RDOB" EXACT [] synonym: "TUB-RELATED CONDITION" EXACT [] xref: MIM:616188 is_a: DOID:8501 ! fundus dystrophy is_a: DOID:9970 ! obesity [Term] id: DOID:9009015 name: Familial Myoclonus 1 synonym: "familial cortical myoclonus" EXACT [] synonym: "FCM" EXACT [] synonym: "MYOCL1" EXACT [] xref: MIM:614937 is_a: DOID:9007722 ! Myoclonus [Term] id: DOID:9009016 name: Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect xref: MESH:C565517 xref: MIM:235750 xref: MONDO:0009343 is_a: DOID:10487 ! Hirschsprung's disease is_a: DOID:1148 ! polydactyly is_a: DOID:1657 ! ventricular septal defect [Term] id: DOID:9009017 name: Amyotrophic Lateral Sclerosis, Autosomal Recessive synonym: "AMYOTROPHIC LATERAL SCLEROSIS, RECESSIVE" EXACT [] xref: MESH:C566290 is_a: DOID:332 ! amyotrophic lateral sclerosis [Term] id: DOID:9009020 name: Anencephaly 1 def: "Characterized by the absence of cranial vault and brain tissues in the fetus. Caused by homozygous mutation in the TRIM36 gene on chromosome 5q22. (OMIM)" [] synonym: "ANPH1" EXACT [] xref: MIM:206500 is_a: DOID:0060668 ! anencephaly created_by: mtutaj creation_date: 2021-07-27T14:18:20Z [Term] id: DOID:9009021 name: Plagiocephaly def: "The condition characterized by uneven or irregular shape of the head often in parallelogram shape with a flat spot on the back or one side of the head. It can either result from the premature CRANIAL SUTURE closure (CRANIOSYNOSTOSIS) or from external forces (NONSYNOSTOTIC PLAGIOCEPHALY)." [MESH:D059041] synonym: "Plagiocephalies" EXACT [] xref: MESH:D059041 is_a: DOID:9008731 ! Craniofacial Abnormalities [Term] id: DOID:9009022 name: Vogt Cephalodactyly xref: MESH:C566327 xref: RDO:0014712 is_a: DOID:12960 ! acrocephalosyndactylia [Term] id: DOID:9009023 name: Aortic Remodeling def: "The active alterations of aortic wall structure." [] is_a: DOID:9004771 ! Vascular Remodeling created_by: rgd creation_date: 2016-06-03T00:00:00Z [Term] id: DOID:9009024 name: Primary Angiitis of the Central Nervous System def: "A rare, idiopathic form of central nervous system vasculitis that may result in stenosis, blockage, and destruction of blood vessels resulting in aneurysms, ischemia, or hemmorrhage. (MESH)" [] synonym: "PACNS" EXACT [] xref: MESH:C535276 is_a: DOID:525 ! central nervous system vasculitis [Term] id: DOID:9009025 name: Renal Phosphate Wasting Disorders def: "Increased urinary phosphate excretion that can result in hypophosphatemia and depletion of total body phosphorus stores. This can lead to abnormal skeletal growth and deformities." [] synonym: "renal phosphate wasting" EXACT [] xref: RDO:9000050 is_a: DOID:2485 ! phosphorus metabolism disease [Term] id: DOID:9009027 name: Lymphoproliferative Syndrome 3 alt_id: MIM:618261 synonym: "CD70 deficiency" EXACT [] synonym: "LPFS3" EXACT [] xref: NCI:C168591 is_a: DOID:0060704 ! lymphoproliferative syndrome [Term] id: DOID:9009028 name: Ecchymosis def: "Extravasation of blood into the skin, resulting in a nonelevated, rounded or irregular, blue or purplish patch, larger than a petechia." [MESH:D004438] synonym: "Ecchymoses" EXACT [] xref: MESH:D004438 is_a: DOID:1247 ! blood coagulation disease is_a: DOID:9007472 ! Skin Manifestations is_a: DOID:9008217 ! Hemorrhage [Term] id: DOID:9009030 name: Intestinal Lipophagic Granulomatosis synonym: "Secondary Non-tropical Sprue" EXACT [] xref: MESH:C531849 xref: RDO:0000241 is_a: DOID:8476 ! Whipple disease [Term] id: DOID:9009031 name: Porphyria Cutanea Tarda, Type I alt_id: MIM:176090 alt_id: RDO:0015025 synonym: "PCT, sporadic type" EXACT [] synonym: "PCT, type I" EXACT [] xref: MESH:C566768 is_a: DOID:3132 ! porphyria cutanea tarda [Term] id: DOID:9009032 name: Hairy Nose Tip alt_id: MIM:139630 xref: MESH:C535619 is_a: DOID:420 ! hypertrichosis [Term] id: DOID:9009034 name: Oroantral Fistula def: "A fistula between the maxillary sinus and the oral cavity." [MESH:D009957] synonym: "Oroantral Fistulas" EXACT [] xref: MESH:D009957 is_a: DOID:9008436 ! Oral Fistula [Term] id: DOID:9009035 name: Mexican Cardiomelic Dysplasia alt_id: MIM:249670 synonym: "Mesoaxial Hexadactyly and Cardiac Malformation" EXACT [] xref: MESH:C563087 is_a: DOID:1148 ! polydactyly is_a: DOID:1682 ! congenital heart disease [Term] id: DOID:9009036 name: Globulin Anomaly involving Beta (2A)-Globulin alt_id: MIM:137900 xref: MESH:C564229 is_a: DOID:1247 ! blood coagulation disease [Term] id: DOID:9009037 name: Candidiasis, Familial, 4 alt_id: MIM:613108 alt_id: RDO:0003907 synonym: "CANDF4" EXACT [] synonym: "Candidiasis, Familial, Type 4" EXACT [] synonym: "Familial chronic mucocutaneous candidiasis" EXACT [] xref: MESH:C537979 is_a: DOID:2058 ! chronic mucocutaneous candidiasis [Term] id: DOID:9009038 name: Nevus Comedonicus def: "A rare type of epidermal nevus with predilection for the face and neck area. NC is characterized by dilated, plugged follicular ostia containing lamellar keratinaceous material and grouped in a honeycomb pattern. Histologically, the lesions are large, grouped, dilated follicular ostia devoid of hair shafts but filled with keratin layers. (OMIM)" [] synonym: "NC" EXACT [] xref: MIM:617025 is_a: DOID:0111162 ! epidermal nevus is_a: DOID:9002969 ! Nevus [Term] id: DOID:9009039 name: Hyperemia def: "The presence of an increased amount of blood in a body part or an organ leading to congestion or engorgement of blood vessels. Hyperemia can be due to increase of blood flow into the area (active or arterial), or due to obstruction of outflow of blood from the area (passive or venous)." [MESH:D006940] synonym: "Active Hyperemia" EXACT [] synonym: "Arterial Hyperemia" EXACT [] synonym: "Hyperemias" EXACT [] synonym: "Passive Hyperemia" EXACT [] synonym: "Reactive Hyperemia" EXACT [] synonym: "Reactive Hyperemias" EXACT [] synonym: "Venous Congestion" EXACT [] synonym: "Venous Engorgement" EXACT [] xref: EFO:0003822 xref: MESH:D006940 is_a: DOID:178 ! vascular disease [Term] id: DOID:9009040 name: Woods Leversha Rogers Syndrome alt_id: MIM:600546 synonym: "intrauterine growth retardation with increased mitomycin C sensitivity" EXACT [] synonym: "severe intrauterine growth retardation with increased mitomycin C sensitivity" EXACT [] xref: MESH:C536744 is_a: DOID:225 ! syndrome is_a: DOID:9002231 ! Fetal Growth Retardation [Term] id: DOID:9009041 name: Temporomandibular Ankylosis synonym: "Ankylosis of the temporomandibular joint (TMJ)" EXACT [] xref: MESH:C536957 is_a: DOID:227 ! ankylosis is_a: DOID:9006281 ! Temporomandibular Joint Disorders [Term] id: DOID:9009042 name: Familial Leg Ulcers of Juvenile Onset alt_id: MIM:150590 xref: MESH:C563632 is_a: DOID:9001347 ! Leg Ulcer [Term] id: DOID:9009043 name: Cole-Carpenter Syndrome 1 def: "A syndrome characterized by bone fragility, craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features. (OMIM)" [] synonym: "CLCRP1" EXACT [] xref: MIM:112240 is_a: DOID:0060438 ! Cole-Carpenter syndrome created_by: rgd creation_date: 2017-02-28T00:00:00Z [Term] id: DOID:9009044 name: Immunodeficiency 109 def: "An autosomal recessive primary immune disorder characterized by onset of recurrent sinopulmonary infections in childhood. Caused by homozygous mutation in the TNFRSF9 gene on chromosome 1p36." [MIM:620282] synonym: "IMD109" EXACT [] synonym: "immunodeficiency-109 with Epstein-Barr virus (EBV)-induced lymphoproliferation" EXACT [] synonym: "immunodeficiency 109 with lymphoproliferation" EXACT [] xref: MIM:620282 xref: MONDO:0859526 is_a: DOID:612 ! primary immunodeficiency disease created_by: mtutaj creation_date: 2023-03-17T09:13:50Z [Term] id: DOID:9009045 name: Gardner Syndrome def: "A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract." [MESH:D005736] synonym: "Gardner's syndrome" EXACT [] synonym: "Gardner's Syndromes" EXACT [] synonym: "Gardners Syndrome" EXACT [] synonym: "Gardner syndromes" EXACT [] synonym: "GS" EXACT [] synonym: "POLYPOSIS, ADENOMATOUS INTESTINAL GARDNER SYNDROME" EXACT [] xref: MESH:D005736 xref: NCI:C6728 is_a: DOID:0050424 ! familial adenomatous polyposis is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9009046 name: Surgical Wound Dehiscence def: "Pathologic process consisting of a partial or complete disruption of the layers of a surgical wound." [MESH:D013529] xref: MESH:D013529 xref: RDO:0006650 is_a: DOID:9000790 ! Postoperative Complications [Term] id: DOID:9009047 name: Laryngeal Cleft synonym: "Anterior submucous laryngeal cleft" EXACT [] synonym: "Congenital laryngeal clefts" EXACT [] synonym: "Posterior laryngeal cleft (PLC)" EXACT [] xref: MESH:C537875 xref: RDO:0010075 is_a: DOID:9005835 ! Congenital Abnormalities [Term] id: DOID:9009048 name: Hyperandrogenism, Nonclassic Type, due to 21-Hydroxylase Deficiency xref: MESH:C565977 xref: RDO:0014472 is_a: DOID:11613 ! hyperandrogenism [Term] id: DOID:9009049 name: Foot Ulcer def: "Lesion on the surface of the skin of the foot, usually accompanied by inflammation. The lesion may become infected or necrotic and is frequently associated with diabetes or leprosy." [] synonym: "Foot Ulcers" EXACT [] synonym: "Plantar Ulcer" EXACT [] synonym: "Plantar Ulcers" EXACT [] xref: MESH:D016523 is_a: DOID:9001347 ! Leg Ulcer is_a: DOID:9007310 ! Foot Diseases [Term] id: DOID:9009050 name: Hypocalcemia def: "Reduction of the blood calcium below normal. Manifestations include hyperactive deep tendon reflexes, Chvostek's sign, muscle and abdominal cramps, and carpopedal spasm. (Dorland, 27th ed)" [] synonym: "Hypocalcemias" EXACT [] xref: MESH:D006996 is_a: DOID:10575 ! calcium metabolism disease is_a: DOID:9004004 ! Water-Electrolyte Imbalance created_by: rgd creation_date: 2018-01-04T11:41:45Z [Term] id: DOID:9009051 name: Atrioventricular Septal Defect 2 synonym: "ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2" RELATED [] synonym: "AVSD2" EXACT [] synonym: "CRELD1-RELATED CONDITION" EXACT [] xref: MIM:606217 is_a: DOID:0050651 ! atrioventricular septal defect created_by: rgd creation_date: 2018-01-12T15:13:08Z [Term] id: DOID:9009052 name: HYPOPLASTIC FEMURS AND PELVIS def: "This disease is characterized by congenital isolated bilateral hypoplasia of the femoral and pelvic bones." [MIM:619545] synonym: "HYPOFP" EXACT [] xref: MIM:619545 is_a: DOID:0080006 ! bone development disease created_by: slaulederkind creation_date: 2024-08-15T18:16:55Z [Term] id: DOID:9009054 name: Colorectal Cancer 10 synonym: "COLORECTAL CANCER, SUSCEPTIBILITY TO, 10" RELATED [] synonym: "COLORECTAL CANCER, SUSCEPTIBILITY TO, ON CHROMOSOME 19q" RELATED [] synonym: "CRCS10" EXACT [] xref: MIM:612591 is_a: DOID:9256 ! colorectal cancer created_by: rgd creation_date: 2018-01-12T16:51:46Z [Term] id: DOID:9009055 name: Combined Immunodeficiency and Megaloblastic Anemia with or without Hyperhomocysteinemia def: "An inborn error of folate metabolism due to deficiency of methylenetetrahydrofolate dehydrogenase-1. Manifestations may include hemolytic uremic syndrome, macrocytosis, epilepsy, hearing loss, retinopathy, mild mental retardation, lymphopenia involving all subsets, and low T-cell receptor excision circles. (OMIM)" [] synonym: "CIMAH" EXACT [] synonym: "methylenetetrahydrofolate dehydrogenase 1 deficiency" EXACT [] synonym: "MTHFD1-RELATED CONDITION" BROAD [] xref: MIM:617780 is_a: DOID:0111962 ! combined immunodeficiency is_a: DOID:13382 ! megaloblastic anemia is_a: DOID:655 ! inherited metabolic disorder created_by: rgd creation_date: 2018-01-12T17:05:58Z [Term] id: DOID:9009056 name: BRAIN MALFORMATION RENAL SYNDROME def: "This disease is characterized by brain abnormalities, Dandy-Walker malformation, and renal dysplasia." [MIM:620943] synonym: "BMRS" EXACT [] xref: MIM:620943 is_a: DOID:557 ! kidney disease is_a: DOID:9006534 ! Nervous System Malformations relationship: has_component DOID:2785 ! Dandy-Walker syndrome created_by: slaulederkind creation_date: 2024-10-08T18:00:17Z [Term] id: DOID:9009058 name: methylmalonic acidemia cblD type synonym: "MACD" EXACT [] synonym: "Methylmalonic aciduria, cblD type" EXACT [] synonym: "Methylmalonic aciduria, cblD type, variant 2" EXACT [] xref: MIM:620953 is_a: DOID:14749 ! methylmalonic acidemia created_by: tutajm creation_date: 2024-10-03T15:08:44Z [Term] id: DOID:9009059 name: OTOFACIAL NEURODEVELOPMENTAL SYNDROME def: "This disease is an autosomal recessive disorder characterized by global developmental delay, behavioral abnormalities, and variable facial asymmetry with outer and inner ear malformations and hearing impairment." [MIM:620910] synonym: "OFNS" EXACT [] xref: MIM:620910 is_a: DOID:2742 ! auditory system disease is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulederkind creation_date: 2024-09-19T10:39:48Z [Term] id: DOID:9009060 name: Childhood Absence Epilepsy 1 synonym: "ECA1" EXACT [] synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 1" RELATED [] xref: MIM:600131 is_a: DOID:1825 ! childhood absence epilepsy created_by: rgd creation_date: 2018-01-15T17:14:54Z [Term] id: DOID:9009061 name: Childhood Absence Epilepsy 2 synonym: "ECA2" EXACT [] synonym: "EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 2" RELATED [] synonym: "GABRG2-RELATED DISORDER" BROAD [] is_a: DOID:0111298 ! familial febrile seizures 8 is_a: DOID:1825 ! childhood absence epilepsy created_by: rgd creation_date: 2018-01-15T17:21:22Z [Term] id: DOID:9009062 name: Progressive Early-Onset Encephalopathy with Episodic Rhabdomyolysis synonym: "PEERB" EXACT [] xref: MIM:618331 is_a: DOID:9000884 ! Rhabdomyolysis is_a: DOID:936 ! brain disease created_by: mtutaj creation_date: 2019-02-25T12:12:43Z [Term] id: DOID:9009063 name: Evans Syndrome, Immunodeficiency, and Premature Immunosenescence associated with Tripeptidyl-Peptidase II Deficiency is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:8931 ! Evans' syndrome created_by: rgd creation_date: 2018-01-15T17:54:41Z [Term] id: DOID:9009065 name: Optic Atrophy 14 def: "A disease characterized by adult-onset progressive reduction in visual acuity, with visual field defects progressing from the periphery to the center. Caused by heterozygous mutation in the MIEF1 gene on chromosome 22q13." [MIM:620550] synonym: "OPA14" EXACT [] xref: MIM:620550 is_a: DOID:9005850 ! Hereditary Optic Atrophies created_by: tutajm creation_date: 2023-10-30T09:39:48Z [Term] id: DOID:9009066 name: Glucocorticoid Deficiency 5 def: "A disease that is characterized by resistance to adrenocorticotropic hormone (ACTH) and isolated glucocorticoid deficiency, with typical biochemical findings of low serum cortisol levels and high plasma ACTH. Patients commonly present with hyperpigmentation. (OMIM)" [] synonym: "GCCD5" EXACT [] synonym: "TXNRD2-RELATED CONDITION" EXACT [] xref: MIM:617825 is_a: DOID:0080620 ! familial glucocorticoid deficiency is_a: DOID:9008622 ! Adrenal Insufficiency created_by: rgd creation_date: 2018-01-15T18:36:10Z [Term] id: DOID:9009067 name: Glycosylphosphatidylinositol Biosynthesis Defect 15 def: "An autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. (OMIM)" [] synonym: "DEVELOPMENTAL DELAY, EPILEPSY, CEREBELLAR ATROPHY, AND OSTEOPENIA" EXACT [] synonym: "GPAA1-RELATED CONDITION" EXACT [] synonym: "GPIBD15" EXACT [] xref: MIM:617810 is_a: DOID:2786 ! cerebellar disease is_a: DOID:9006834 ! Glycosylphosphatidylinositol Deficiency is_a: DOID:9008514 ! Psychomotor Disorders created_by: rgd creation_date: 2018-01-15T18:47:11Z [Term] id: DOID:9009070 name: Herpes Simplex Encephalitis 1 synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 1" EXACT [] synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 1" EXACT [] synonym: "IIAE1" EXACT [] xref: MIM:610551 is_a: DOID:9003870 ! Herpes Simplex Encephalitis created_by: rgd creation_date: 2018-01-16T17:19:18Z [Term] id: DOID:9009072 name: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA def: "A multisystem disorder characterized by immunodeficiency, mildly delayed psychomotor development, poor overall growth from infancy, and hypohomocysteinemia. (OMIM)" [] synonym: "IMDDHH" EXACT [] synonym: "NFE2L2-RELATED CONDITION" EXACT [] xref: MIM:617744 xref: MONDO:0060591 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2018-01-16T18:17:02Z [Term] id: DOID:9009073 name: Diaphragmatic Hernia def: "Protrusion of abdominal structures into the THORAX as a result of congenital or traumatic defects in the respiratory DIAPHRAGM." [] synonym: "Diaphragmatic Hernias" EXACT [] xref: EFO:0008561 xref: MESH:D006548 is_a: DOID:10481 ! diaphragm disease is_a: DOID:1283 ! enterocele created_by: rgd creation_date: 2018-01-16T18:30:12Z [Term] id: DOID:9009074 name: KARIMINEJAD-REVERSADE NEURODEVELOPMENTAL SYNDROME def: "This disease is an autosomal recessive developmental disorder characterized by global developmental delay with delayed walking, speech delay, and impaired intellectual development. Affected individuals have hypotonia and muscle weakness, as well as dysmorphic facial features." [MIM:620937] synonym: "KAREVS" EXACT [] xref: MIM:620937 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2024-10-10T12:44:22Z [Term] id: DOID:9009075 name: Congenital myopathy 25 def: "An autosomal recessive disorder of congenital myopathy characterized by prominent facial, ocular, and bulbar features, caused by homozygous mutation in the JPH1 gene on chromosome 8q21." [MIM:620964] synonym: "CMYO25" EXACT [] xref: MIM:620964 is_a: DOID:0081337 ! congenital myopathy created_by: tutajm creation_date: 2024-10-04T08:31:15Z [Term] id: DOID:9009076 name: XEROSIS AND GROWTH FAILURE WITH IMMUNE AND PULMONARY DYSFUNCTION SYNDROME def: "This disease is characterized by premature birth, intrauterine and postnatal growth retardation, and collodion membrane or collodion-like skin at birth with dry skin thereafter. Patients also exhibit bronchopulmonary disease and thrombocytopenia and neutropenia. Affected individuals die within the first year of life." [MIM:620510] synonym: "XGIP" EXACT [] synonym: "XGIP SYNDROME" EXACT [] xref: MIM:620510 is_a: DOID:0050161 ! lower respiratory tract disease is_a: DOID:1227 ! neutropenia is_a: DOID:1588 ! thrombocytopenia is_a: DOID:37 ! skin disease is_a: DOID:9006257 ! Growth Disorders created_by: slaulederkind creation_date: 2023-11-10T10:33:01Z [Term] id: DOID:9009077 name: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES def: "This disease is a severe autosomal recessive disorder characterized by onset of symptoms in infancy. Patients present with respiratory failure and require intubation soon after birth. Patients who survive show severe global developmental delay, refractory myoclonic seizures, hyperkinetic movements with exaggerated startle response, and microcephaly with dysmorphic features." [MIM:620327] synonym: "NDDRSB" EXACT [] xref: MIM:620327 is_a: DOID:11162 ! respiratory failure is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:1826 ! epilepsy is_a: DOID:9005154 ! Myoclonic Epilepsies is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2023-06-20T08:57:09Z [Term] id: DOID:9009078 name: Progressive Leukodystrophy, Early Childhood-Onset synonym: "early childhood-onset progressive leukodystrophy" EXACT [] synonym: "PLDECO" EXACT [] xref: MIM:617762 is_a: DOID:10579 ! leukodystrophy created_by: rgd creation_date: 2018-01-17T15:45:06Z [Term] id: DOID:9009080 name: Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange xref: MIM:PS210900 is_a: DOID:10907 ! microcephaly is_a: DOID:225 ! syndrome is_a: DOID:9006257 ! Growth Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: mtutaj creation_date: 2021-02-04T11:08:45Z [Term] id: DOID:9009081 name: Multiple mitochondrial dysfunctions syndrome 8 def: "An autosomal recessive neuromuscular disorder characterized mainly by childhood onset of progressive muscle weakness and exercise intolerance. Patients have episodic exacerbation, which may be associated with increased serum creatine kinase or lactic acid. Additional more variable features may include optic atrophy, reversible leukoencephalopathy, and later onset of a sensorimotor polyneuropathy. The disorder results from impaired formation of Fe-S clusters, which are essential cofactors for proper mitochondrial function. MEOAL is caused by homozygous mutation in the FDX2 gene on chromosome 19p13. (OMIM)" [] synonym: "Episodic mitochondrial myopathy with or without optic atrophy and reversible leukoencephalopathy" EXACT [] synonym: "MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY" NARROW [] synonym: "MMDS8" EXACT [] xref: MIM:251900 xref: MONDO:0020714 is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome is_a: DOID:5723 ! optic atrophy is_a: DOID:699 ! mitochondrial myopathy is_a: DOID:9002704 ! Leukoencephalopathies created_by: gthayman creation_date: 2019-03-25T00:00:00Z [Term] id: DOID:9009082 name: Specific Granule Deficiency 1 synonym: "CEBPE-RELATED CONDITION" BROAD [] synonym: "LACTOFERRIN-DEFICIENT NEUTROPHILS" EXACT [] synonym: "NEUTROPHIL LACTOFERRIN DEFICIENCY" EXACT [] synonym: "SGD1" EXACT [] synonym: "SPECIFIC GRANULE DEFICIENCY 1, AUTOSOMAL DOMINANT" NARROW [] xref: MIM:245480 is_a: DOID:9000265 ! Specific Granule Deficiency created_by: mtutaj creation_date: 2019-03-26T08:38:35Z [Term] id: DOID:9009083 name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR HYPOPLASIA AND SPASTICITY synonym: "NEDCHS" EXACT [] xref: EFO:0010562 xref: MIM:618572 is_a: DOID:0070338 ! cerebellar hypoplasia is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007428 ! Muscle Spasticity created_by: slaulede creation_date: 2019-10-10T17:14:54Z [Term] id: DOID:9009085 name: Bone Marrow Failure and Diabetes Mellitus Syndrome def: "An autosomal recessive disorder characterized by the onset of manifestations of bone marrow failure, such as anemia, thrombocytopenia, and dyserythropoiesis, in infancy or early childhood. Caused by homozygous mutation in the DUT gene on chromosome 15q15." [MIM:620044] synonym: "BMFDMS" EXACT [] xref: MIM:620044 xref: MONDO:0859288 is_a: DOID:9004906 ! Congenital Bone Marrow Failure Syndromes is_a: DOID:9351 ! diabetes mellitus created_by: mtutaj creation_date: 2022-11-14T15:34:23Z [Term] id: DOID:9009086 name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 synonym: "MPPH1" EXACT [] xref: MIM:603387 xref: NCI:C202114 is_a: DOID:9002403 ! Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome created_by: mtutaj creation_date: 2019-03-21T00:00:00Z [Term] id: DOID:9009087 name: Hypoplastic Left Heart Syndrome 1 synonym: "HLHS1" EXACT [] xref: MIM:241550 is_a: DOID:9955 ! hypoplastic left heart syndrome created_by: mtutaj creation_date: 2019-03-19T08:36:46Z [Term] id: DOID:9009089 name: Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly xref: EFO:0003113 xref: MIM:PS221770 xref: MONDO:0009092 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2256 ! osteochondrodysplasia is_a: DOID:811 ! lipodystrophy created_by: mtutaj creation_date: 2019-03-21T13:45:56Z [Term] id: DOID:9009090 name: arthrogryposis multiplex congenita-7, X-linked def: "An X-linked recessive disorder characterized by the development of joint contractures in utero. Caused by hemizygous mutation in the THOC2 gene on chromosome Xq25." [MIM:301127] synonym: "AMC7" EXACT [] xref: MIM:301127 is_a: DOID:0080954 ! arthrogryposis multiplex congenita created_by: tutajm creation_date: 2024-10-18T11:33:53Z [Term] id: DOID:9009091 name: ENCEPHALOPATHY, ACUTE TRANSIENT def: "An encephalopathy caused by compound heterozygous mutation in the ABCB1 gene on chromosome 7q21." [MIM:620950] synonym: "ENPAT" EXACT [] xref: MIM:620950 is_a: DOID:936 ! brain disease created_by: tutajm creation_date: 2024-09-23T14:49:05Z [Term] id: DOID:9009092 name: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME def: "This disease is characterized by localized scalp aplasia, dental enamel anomalies, and a relatively mild neurodevelopmental disorder." [OMIM:620789] synonym: "ACED" EXACT [] xref: OMIM:620789 is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2024-07-09T10:56:42Z [Term] id: DOID:9009093 name: Myopia 26, X-Linked, Female-Limited def: "A disease characterized by female-limited, early-onset high myopia. The fundus of patients shows a tigroid appearance, and there is a temporal crescent of the optic nerve head. MYP26 is caused by mutation in the ARR3 gene on chromosome Xq13. (OMIM)" [] synonym: "ARR3-RELATED CONDITION" EXACT [] synonym: "MYP26" EXACT [] synonym: "X-linked female-limited myopia 26" EXACT [] xref: MIM:301010 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:11830 ! myopia created_by: rgd creation_date: 2018-01-17T18:16:52Z [Term] id: DOID:9009094 name: Progressive Familial Heart Block Type I synonym: "PFHB1" EXACT [] synonym: "PFHBI" EXACT [] synonym: "progressive familial heart block type 1" EXACT [] is_a: DOID:0111073 ! progressive familial heart block created_by: rgd creation_date: 2018-01-17T18:23:34Z [Term] id: DOID:9009095 name: Neuroblastoma 3 synonym: "ALK-RELATED CONDITION" EXACT [] synonym: "NBLST3" EXACT [] synonym: "NEUROBLASTOMA, SUSCEPTIBILITY TO, 3" RELATED [] xref: MIM:613014 is_a: DOID:769 ! neuroblastoma created_by: rgd creation_date: 2018-01-17T18:29:01Z [Term] id: DOID:9009096 name: Neurodevelopmental Disorder with Ataxic Gait, Absent Speech, and Decreased Cortical White Matter def: "A neurodevelopmental disorder characterized by severely delayed psychomotor development apparent from infancy. Brain imaging shows decreased cortical white matter. (OMIM)" [] synonym: "NDAGSCW" EXACT [] xref: MIM:617807 is_a: DOID:9002704 ! Leukoencephalopathies is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2018-01-17T18:32:31Z [Term] id: DOID:9009098 name: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND CORTICAL ATROPHY synonym: "NDMSCA" EXACT [] xref: EFO:0009644 xref: MIM:617802 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2018-01-17T18:45:30Z [Term] id: DOID:9009099 name: NEURODEVELOPMENTAL DISORDER WITH SEVERE MOTOR IMPAIRMENT AND ABSENT LANGUAGE def: "A neurodevelopmental disorder characterized by severely delayed psychomotor development and hypotonia apparent from early infancy, resulting in feeding difficulties, ataxic gait or inability to walk, minimal or absent speech development, and severe intellectual disability, often with behavioral abnormalities, such as hand-flapping. (OMIM)" [] synonym: "NEDMIAL" EXACT [] xref: MIM:617804 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:93 ! language disorder created_by: rgd creation_date: 2018-01-17T18:47:57Z [Term] id: DOID:9009100 name: Renal Hypodysplasia/Aplasia 3 def: "An autosomal dominant disorder characterized by abnormal kidney development beginning in utero. Renal aplasia falls at the most severe end of the spectrum of congenital anomalies of the kidney and urinary tract. (OMIM)" [] synonym: "GREB1L-RELATED CONDITION" BROAD [] synonym: "RHDA3" EXACT [] xref: EFO:0009137 xref: MIM:617805 is_a: DOID:14766 ! renal agenesis created_by: rgd creation_date: 2018-01-18T12:18:57Z [Term] id: DOID:9009101 name: Retinitis Pigmentosa 80 synonym: "RETINAL CILIOPATHY DUE TO MUTATION IN THE RETINITIS PIGMENTOSA-1 GENE" EXACT [] synonym: "RP80" EXACT [] xref: MIM:617781 is_a: DOID:10584 ! retinitis pigmentosa created_by: rgd creation_date: 2018-01-18T12:26:45Z [Term] id: DOID:9009103 name: Homocystinuria-Megaloblastic Anemia xref: MIM:PS236270 is_a: DOID:13382 ! megaloblastic anemia is_a: DOID:9263 ! homocystinuria created_by: tutajm creation_date: 2024-10-03T15:13:43Z [Term] id: DOID:9009104 name: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY def: "This disease is an autosomal recessive disorder characterized by impaired intellectual development and childhood-onset optic atrophy or ataxia." [MIM:620784] synonym: "NEDOA" EXACT [] synonym: "SNF8-ASSOCIATED DISEASE" BROAD [] xref: MIM:620784 is_a: DOID:5723 ! optic atrophy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulederkind creation_date: 2024-05-24T12:55:25Z [Term] id: DOID:9009105 name: HIV Encephalitis synonym: "HIVE" EXACT [] synonym: "HIV-encephalitis" EXACT [] is_a: DOID:526 ! human immunodeficiency virus infectious disease is_a: DOID:646 ! viral encephalitis created_by: rgd creation_date: 2018-02-06T12:47:20Z [Term] id: DOID:9009106 name: Acute Heart Injury def: "Traumatic, chemical, stress, or inflammation-related damage to the heart." [] synonym: "ACI" EXACT [] synonym: "acute cardiac injury" EXACT [] is_a: DOID:114 ! heart disease is_a: DOID:9007588 ! Heart Injuries created_by: rgd creation_date: 2018-02-06T13:04:16Z [Term] id: DOID:9009107 name: Drug-Induced Enteropathy def: "Injury of the small intestine caused by any of a variety of drugs involving lesions that may contribute to ulceration." [] synonym: "Drug-induced gastrointestinal disturbance" RELATED [] synonym: "Medication-Induced Enteropathy" EXACT [] is_a: DOID:5295 ! intestinal disease is_a: DOID:9006810 ! Drug-Related Side Effects and Adverse Reactions created_by: rgd creation_date: 2018-02-06T15:37:02Z [Term] id: DOID:9009111 name: Encephalopathy due to Defective Mitochondrial and Peroxisomal Fission xref: MIM:PS614388 is_a: DOID:225 ! syndrome is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:936 ! brain disease created_by: mtutaj creation_date: 2021-02-03T10:17:37Z [Term] id: DOID:9009112 name: Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related, 5 synonym: "PFBMFT5" EXACT [] synonym: "Pulmonary Fibrosis and/or Bone Marrow Failure, Telomere-Related, 5" EXACT [] xref: EFO:0010664 xref: MIM:618674 is_a: DOID:9008357 ! Pulmonary Fibrosis and/or Bone Marrow Failure Syndrome, Telomere-Related created_by: mtutaj creation_date: 2019-12-02T11:26:55Z [Term] id: DOID:9009113 name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FEEDING DIFFICULTIES, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES def: "This disease is an autosomal recessive disorder characterized by poor overall growth apparent from infancy, global developmental delay with motor delay, and severely impaired intellectual development with poor or absent speech. Additional features include feeding difficulties, dysmorphic facies, variable congenital heart defects, and brain imaging abnormalities." [MIM:620852] synonym: "NEDHFDB" EXACT [] xref: MIM:620852 is_a: DOID:9001487 ! Facies is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9006534 ! Nervous System Malformations created_by: slaulederkind creation_date: 2024-07-11T16:46:26Z [Term] id: DOID:9009115 name: Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive def: "An autosomal recessive neurodevelopmental disorder characterized by severely delayed psychomotor development, severe intellectual disability, and involuntary movements, including stereotypic movements, spasticity, and dystonia. (OMIM)" [] synonym: "autosomal recessive neurodevelopmental disorder with or without hyperkinetic movements and seizures" EXACT [] synonym: "NDHMSR" EXACT [] synonym: "NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE" NARROW [] xref: MIM:617820 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2018-02-07T16:21:10Z [Term] id: DOID:9009116 name: Urinary Bladder Neoplasm def: "Tumors of the urinary bladder" [] synonym: "Bladder Neoplasm" EXACT [] synonym: "Bladder Neoplasms" EXACT [] synonym: "Bladder Tumor" EXACT [] synonym: "Bladder Tumors" EXACT [] synonym: "Urinary Bladder Neoplasms" EXACT [] xref: EFO:0000294 is_a: DOID:365 ! bladder disease is_a: DOID:9004643 ! Urologic Neoplasms created_by: rgd creation_date: 2018-02-23T11:49:06Z [Term] id: DOID:9009117 name: primary pulmonary hypertension 1 synonym: "BMPR2-RELATED CONDITION" BROAD [] synonym: "BMPR2-RELATED DISORDER" BROAD [] synonym: "PAH" EXACT [] synonym: "PHT" EXACT [] synonym: "PPH1" EXACT [] synonym: "PPH1 with HHT" RELATED [] synonym: "Primary Pulmonary Hypertension, 1" EXACT [] synonym: "Primary Pulmonary Hypertension 1, with Hereditary Hemorrhagic Telangiectasia" RELATED [] synonym: "PULMONARY ARTERIAL HYPERTENSION" BROAD [] synonym: "PULMONARY HYPERTENSION, PRIMARY, 1" EXACT [] synonym: "PULMONARY HYPERTENSION, PRIMARY, DEXFENFLURAMINE-ASSOCIATED" RELATED [] synonym: "PULMONARY HYPERTENSION, PRIMARY, FENFLURAMINE-ASSOCIATED" RELATED [] xref: MIM:178600 xref: NCI:C174219 is_a: DOID:14557 ! primary pulmonary hypertension created_by: rgd creation_date: 2018-03-12T13:02:21Z [Term] id: DOID:9009118 name: Ovarian Dysgenesis 11 def: "A disease characterized by primary amenorrhea and delayed puberty, with absent ovaries on pelvic ultrasound. Caused by homozygous or compound heterozygous mutation in the HROB gene on chromosome 17q21." [MIM:620897] synonym: "ODG11" EXACT [] xref: MIM:620897 is_a: DOID:14450 ! 46 XX gonadal dysgenesis created_by: tutajm creation_date: 2024-07-30T10:57:57Z [Term] id: DOID:9009119 name: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 def: "This disease is a rare amyloidosis that can affect the viscera, with severe involvement when located in the kidneys and liver. Renal dysfunction of varying severity may be the predominant manifestation. Massive hepatic hemorrhage constitutes the other severe visceral involvement. Dermatologic manifestations are rare." [OMIM:620658] synonym: "AMYLD5" EXACT [] synonym: "hereditary systemic amyloidosis 5" EXACT [] xref: OMIM:620658 is_a: DOID:0050636 ! familial visceral amyloidosis created_by: slaulederkind creation_date: 2024-07-09T10:49:43Z [Term] id: DOID:9009121 name: lung metastasis def: "Transfer of a neoplasm from its primary site to the lung. Because a lung metastasis develops from some underlying cancer elsewhere in the body, it is called a “secondary” malignancy" [https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=22&contentid=lungmetastasis, ISBN-13:978-1455756438] xref: PMID:26265454 is_a: DOID:1324 ! lung cancer is_a: DOID:9000965 ! Neoplasm Metastasis created_by: slaulede creation_date: 2021-04-16T14:39:10Z [Term] id: DOID:9009123 name: Neurodevelopmental Disorder with Movement Abnormalities, Abnormal Gait, and Autistic Features def: "A neurodevelopmental disorder characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor." [MIM:617865] synonym: "NEDMAGA" EXACT [] synonym: "ZSWIM6-RELATED CONDITION" BROAD [] synonym: "ZSWIM6 RELATED INTELLECTUAL DISABILITY" NARROW [] xref: MIM:617865 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2018-03-14T17:49:27Z [Term] id: DOID:9009124 name: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES def: "An autosomal dominant disorder characterized by global developmental delay apparent from infancy or early childhood, resulting in variable intellectual disability that can range from profound with absent speech to mild with an ability to attend special schools. Most affected individuals show irritability, stiffness, and hypertonia early in life, which progresses to spasticity and impaired gait later. (OMIM)" [] synonym: "NEDSGA" EXACT [] xref: MIM:617864 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: rgd creation_date: 2018-03-14T17:57:15Z [Term] id: DOID:9009128 name: PEHO-like syndrome def: "This disease is a rare, genetic neurological condition characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated." [Orphanet:99807] synonym: "CCDC88A-RELATED CONDITION" EXACT [] synonym: "PEHOL" EXACT [] synonym: "PROGRESSIVE ENCEPHALOPATHY WITH EDEMA, HYPSARRHYTHMIA, AND OPTIC ATROPHY-LIKE SYNDROME" EXACT [] xref: EFO:Orphanet:99807 xref: MIM:617507 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9005603 ! Muscle Hypotonia created_by: slaulederkind creation_date: 2024-08-06T14:39:11Z [Term] id: DOID:9009130 name: Immunodeficiency 83 def: "Characterized primarily by increased susceptibility to viral infections. Caused by homozygous, compound heterozygous, or heterozygous mutation in the TLR3 gene on chromosome 4q35. (OMIM)" [] synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 2" EXACT [] synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 2" EXACT [] synonym: "IIAE2" EXACT [] synonym: "IMD83" EXACT [] synonym: "Immunodeficiency 83, susceptibility to viral infections" EXACT [] synonym: "PNEUMONITIS, INFECTION (VIRAL)-INDUCED, SUSCEPTIBILITY TO" EXACT [] xref: MIM:613002 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9003870 ! Herpes Simplex Encephalitis created_by: mtutaj creation_date: 2021-07-16T15:21:19Z [Term] id: DOID:9009131 name: Ventriculomegaly def: "This disease involves dilatation of the ventricles of the brain." [] synonym: "dilated ventricles" EXACT [] synonym: "enlarged cerebral ventricles" EXACT [] synonym: "enlarged ventricles" EXACT [] synonym: "enlarged ventricular system" EXACT [] synonym: "PROGRESSIVE VENTRICULOMEGALY" NARROW [] is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2018-03-29T11:05:53Z [Term] id: DOID:9009132 name: Glutaric Aciduria synonym: "glutaric acidemia" EXACT [] is_a: DOID:9252 ! amino acid metabolic disorder created_by: slaulede creation_date: 2018-04-09T13:55:38Z [Term] id: DOID:9009133 name: ACANTHOCYTOSIS def: "A condition featuring the presence of a thorny or barbed appearance to red blood cells." [] synonym: "ACANTHOCYTOSIS DUE TO BAND 3 HT" NARROW [] is_a: DOID:74 ! hematopoietic system disease is_a: DOID:9002760 ! Morphological and Microscopic Findings created_by: slaulede creation_date: 2018-04-10T18:05:53Z [Term] id: DOID:9009137 name: AUTOINFLAMMATION WITH ARTHRITIS AND VASCULITIS def: "This disease is an autosomal recessive complex immunologic disorder with onset of symptoms in infancy or early childhood. Affected individuals have recurrent fever, erythematous skin rashes, vasculitis, oral aphthous lesions, and polyarthritis." [MIM:620880] synonym: "AIARV" EXACT [] xref: MIM:620880 is_a: DOID:865 ! vasculitis is_a: DOID:9006364 ! Hereditary Autoinflammatory Diseases created_by: slaulederkind creation_date: 2024-09-13T10:23:25Z [Term] id: DOID:9009138 name: Citrullinemia Type 2 synonym: "Citrullinemia Type II" EXACT [] xref: NCI:C150603 is_a: DOID:9273 ! citrullinemia created_by: slaulede creation_date: 2018-04-12T17:42:13Z [Term] id: DOID:9009139 name: Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome def: "An adult-onset slowly progressive neurologic disorder characterized by imbalance due to cerebellar gait and limb ataxia, impaired vestibular function bilaterally, and non-length-dependent sensory neuropathy. CANVAS is caused by a homozygous repeat expansion (AAGGG(n)) in the RFC1 gene (102579) on chromosome 4p14. The reference allele is a simple tandem pentanucleotide AAAAG repeat of 11 (AAAAG(11)), whereas the expansion size ranges from about 400 to 2,000 repeats, with the majority of cases having about 1,000 repeats. (OMIM)" [] synonym: "CANVAS" EXACT [] xref: MIM:614575 xref: MONDO:0044720 xref: NCI:C202046 is_a: DOID:0050753 ! cerebellar ataxia is_a: DOID:870 ! neuropathy is_a: DOID:9006473 ! Bilateral Vestibulopathy created_by: slaulede creation_date: 2018-04-13T18:23:43Z [Term] id: DOID:9009140 name: Congenital Heart Defects, Multiple Types, 5 synonym: "CHTD5" EXACT [] synonym: "GATA5-RELATED CONDITION" EXACT [] synonym: "multiple types of congenital heart defects 5" EXACT [] xref: MIM:617912 is_a: DOID:9008565 ! Congenital Heart Defects, Multiple Types created_by: slaulede creation_date: 2018-04-16T11:30:54Z [Term] id: DOID:9009141 name: Joubert Syndrome 36 synonym: "JBTS36" EXACT [] xref: MIM:618763 is_a: DOID:0050777 ! Joubert syndrome created_by: mtutaj creation_date: 2020-02-05T15:38:57Z [Term] id: DOID:9009142 name: Diamond-Blackfan Anemia-Like synonym: "DBAL" EXACT [] xref: MIM:617911 is_a: DOID:1339 ! Diamond-Blackfan anemia created_by: slaulede creation_date: 2018-04-17T17:30:14Z [Term] id: DOID:9009143 name: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), 8 synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 8" RELATED [] synonym: "HERPES SIMPLEX ENCEPHALITIS, SUSCEPTIBILITY TO, 6" RELATED [] synonym: "IIAE8" EXACT [] xref: MIM:617900 is_a: DOID:936 ! brain disease created_by: slaulede creation_date: 2018-04-17T18:38:55Z [Term] id: DOID:9009144 name: Methylmalonic Aciduria and Homocystinuria, cblL Type def: "An autosomal recessive metabolic disorder with onset of symptoms in infancy characterized by neurologic features, including seizures and profoundly impaired neurodevelopment. Caused by homozygous mutation in the THAP11 gene on chromosome 16q11." [MIM:620940] synonym: "MAHCL" EXACT [] xref: MIM:620940 is_a: DOID:9005614 ! Methylmalonic Aciduria and Homocystinuria created_by: tutajm creation_date: 2024-09-23T14:39:47Z [Term] id: DOID:9009145 name: Mismatch Repair Cancer Syndrome 3 synonym: "MMRCS3" EXACT [] xref: MIM:619097 is_a: DOID:0112182 ! mismatch repair cancer syndrome created_by: mtutaj creation_date: 2020-11-30T11:38:09Z [Term] id: DOID:9009146 name: Urogenital Diseases def: "Pathological processes of the urinary tract and the reproductive system." [] synonym: "disease of genitourinary system" EXACT [] synonym: "disease of the genitourinary system" EXACT [] synonym: "urogenital disease" EXACT [] xref: EFO:0009663 is_a: DOID:7 ! disease of anatomical entity created_by: slaulede creation_date: 2018-04-18T14:46:07Z [Term] id: DOID:9009147 name: HYPOTONIA, ATAXIA, DEVELOPMENTAL DELAY, AND TOOTH ENAMEL DEFECT SYNDROME synonym: "HADDTS" EXACT [] xref: MIM:617915 xref: NCI:C192635 is_a: DOID:225 ! syndrome is_a: DOID:9004866 ! Ataxia is_a: DOID:9005603 ! Muscle Hypotonia is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9009007 ! Tooth Abnormalities created_by: slaulede creation_date: 2018-04-19T16:41:16Z [Term] id: DOID:9009148 name: Hypertrophic Cardiomyopathy 29 def: "A disease characterized by recurrent syncope, dyspnea on exertion, and palpitations. Caused by homozygous mutation in the KLHL24 gene on chromosome 3q27." [MIM:620236] synonym: "CMH29" EXACT [] synonym: "familial hypertrophic cardiomyopathy 29, with polyglucosan bodies" EXACT [] xref: MIM:620236 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy created_by: mtutaj creation_date: 2023-02-02T09:38:28Z [Term] id: DOID:9009149 name: Primary Autosomal Recessive Microcephaly 20 synonym: "KIF14-RELATED CONDITION" BROAD [] synonym: "MCPH20" EXACT [] xref: MIM:617914 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: slaulede creation_date: 2018-04-23T17:05:40Z [Term] id: DOID:9009150 name: Spastic paraplegia 30, autosomal dominant def: "A neurologic disorder characterized by onset of slowly progressive spastic paraplegia in the first or second decades of life. Caused by heterozygous mutation in the KIF1A gene on chromosome 2q37." [MIM:610357] synonym: "Spastic paraplegia 30A, autosomal dominant" EXACT [] synonym: "SPG30A" EXACT [] xref: MIM:610357 is_a: DOID:0110781 ! hereditary spastic paraplegia 30 created_by: tutajm creation_date: 2024-07-17T16:50:04Z [Term] id: DOID:9009152 name: Neurodegeneration with Brain Iron Accumulation 7 synonym: "NBIA7" EXACT [] xref: MIM:617916 is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation created_by: slaulede creation_date: 2018-04-23T18:12:11Z [Term] id: DOID:9009153 name: Neurodegeneration with Brain Iron Accumulation 8 synonym: "NBIA8" EXACT [] xref: MIM:617917 is_a: DOID:0110734 ! neurodegeneration with brain iron accumulation created_by: slaulede creation_date: 2018-04-23T18:14:15Z [Term] id: DOID:9009154 name: Neurodevelopmental Disorder with Poor Language and Loss of Hand Skills def: "An autosomal dominant disorder characterized by developmental stagnation or regression apparent in the first years of life and manifest as loss of purposeful hand movements, loss of language, and intellectual disability. (OMIM)" [] synonym: "NDPLHS" EXACT [] xref: MIM:617903 is_a: DOID:0050888 ! syndromic intellectual disability is_a: DOID:225 ! syndrome created_by: slaulede creation_date: 2018-04-23T18:17:31Z [Term] id: DOID:9009155 name: Shoulder Dystocia def: "Obstetric complication during OBSTETRIC DELIVERY in which exit of the fetus is delayed due to physical obstruction involving fetal shoulder(s)." [MESH:D000080883] synonym: "Fetal Shoulder Dystocia" EXACT [] xref: MESH:D000080883 is_a: DOID:9008893 ! Dystocia created_by: slaulede creation_date: 2020-02-07T13:13:52Z [Term] id: DOID:9009156 name: Lymphatic Malformation 9 def: "An autosomal dominant disorder characterized by the onset of lower-extremity lymphedema in the first decades of life. Caused by heterozygous mutation in the CELSR1 gene on chromosome 22q13. (OMIM)" [] synonym: "CELSR1-RELATED CONDITION" EXACT [] synonym: "LMPHM9" EXACT [] xref: MIM:619319 is_a: DOID:0050580 ! hereditary lymphedema created_by: mtutaj creation_date: 2021-05-17T14:12:11Z [Term] id: DOID:9009158 name: MHC CLASS II DEFICIENCY 1 def: "A rare autosomal recessive primary immunodeficiency characterized by the loss of expression of MHC class II antigens (HLA-DR, HLA-DQ, and HLA-DP) on antigen-presenting cells (APCs) resulting from mutations in regulatory genes required for proper transcription of the MHC class II genes. Caused by homozygous or compound heterozygous mutation in the CIITA gene on chromosome 16p13." [] synonym: "bare lymphocyte syndrome 2" EXACT [] synonym: "Bare lymphocyte syndrome type 2" EXACT [] synonym: "Bare Lymphocyte Syndrome Type 2, Complementation Group A" EXACT [] synonym: "bare lymphocyte syndrome type II" EXACT [] synonym: "Bare Lymphocyte Syndrome, Type II, Complementation Group A" EXACT [] synonym: "BLSII" EXACT [] synonym: "BLS Type II" EXACT [] synonym: "MHC2D1" EXACT [] synonym: "SCID due to absent class II HLA antigens" EXACT [] synonym: "SCID, HLA class 2-negative" EXACT [] synonym: "SCID, HLA class II-negative" EXACT [] synonym: "severe combined immunodeficiency, HLA class II-negative" EXACT [] xref: MESH:C537079 xref: MESH:C565910 xref: MIM:209920 xref: NCI:C171268 is_a: DOID:5812 ! MHC class II deficiency created_by: tutajm creation_date: 2024-08-19T11:54:32Z [Term] id: DOID:9009159 name: Audiogenic Epilepsy def: "A subtype of epilepsy characterized by seizures that are consistently provoked by an auditory stimulus." [] synonym: "AGS" EXACT [] synonym: "audiogenic epilepsies" EXACT [] synonym: "audiogenic reflex epilepsies" EXACT [] synonym: "Audiogenic Reflex Epilepsy" EXACT [] synonym: "Audiogenic Seizure" EXACT [] synonym: "audiogenic seizures" EXACT [] is_a: DOID:2548 ! reflex epilepsy created_by: slaulede creation_date: 2019-12-05T16:33:08Z [Term] id: DOID:9009160 name: SCHIZOPHRENIA 17 def: "A schizophrenia that has_material_basis_in a mutation of NRXN1 on chromosome 2p16.3." [] synonym: "NRXN1-RELATED CONDITION" BROAD [] synonym: "SCZD17" EXACT [] xref: MIM:614332 is_a: DOID:5419 ! schizophrenia created_by: slaulede creation_date: 2018-04-25T14:47:52Z [Term] id: DOID:9009161 name: Attention Deficit and Disruptive Behavior Disorders alt_id: DOID:0050856 def: "Includes two similar disorders: oppositional defiant disorder and CONDUCT DISORDERS. Symptoms occurring in children with these disorders include: defiance of authority figures, angry outbursts, and other antisocial behaviors." [] synonym: "Disruptive Behavior Disorder" EXACT [] xref: MESH:D019958 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2018-04-25T18:10:11Z [Term] id: DOID:9009162 name: MHC CLASS I DEFICIENCY 3 def: "This disease is an autosomal recessive immunologic disorder characterized by chronic glomerulonephritis and reduced cell surface expression of class I HLA antigens." [] synonym: "MHC1D3" EXACT [] xref: OMIM:620814 is_a: DOID:0060009 ! MHC class I deficiency created_by: slaulederkind creation_date: 2024-07-11T16:37:25Z [Term] id: DOID:9009163 name: ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION def: "This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy." [MIM:270500] xref: MIM:270500 is_a: DOID:0050952 ! spastic ataxia is_a: DOID:1059 ! intellectual disability is_a: DOID:5723 ! optic atrophy created_by: slaulede creation_date: 2018-05-08T11:25:26Z [Term] id: DOID:9009164 name: Hereditary Congenital Facial Paresis 1 synonym: "HCFP1" EXACT [] synonym: "MBS2" EXACT [] synonym: "MOBIUS SYNDROME 2" EXACT [] synonym: "MOEBIUS SYNDROME 2" EXACT [] xref: MIM:601471 is_a: DOID:9001799 ! Hereditary Congenital Facial Paresis created_by: mtutaj creation_date: 2019-03-27T10:00:19Z [Term] id: DOID:9009165 name: Multiple mitochondrial dysfunctions syndrome 9B def: "A disease characterized by optic atrophy and/or auditory neuropathy variably associated with developmental delay or regression, global hypotonia, pyramidal and cerebellar signs, and seizures. Caused by homozygous or compound heterozygous mutation in the FDXR gene, which encodes ferredoxin reductase, on chromosome 17q25." [MIM:620887] synonym: "MMDS9B" EXACT [] xref: MIM:620887 xref: MONDO:0971174 is_a: DOID:0070330 ! multiple mitochondrial dysfunctions syndrome created_by: tutajm creation_date: 2024-07-17T18:32:30Z [Term] id: DOID:9009167 name: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA def: "An autosomal recessive disorder characterized by severe psychomotor developmental abnormalities and functional iron deficiency." [MIM:618451] synonym: "NDCAMA" EXACT [] synonym: "NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOSIS AND MICROCYTIC ANEMIA" EXACT [] xref: MIM:618451 is_a: DOID:11252 ! microcytic anemia is_a: DOID:1289 ! neurodegenerative disease created_by: slaulede creation_date: 2019-09-16T11:25:38Z [Term] id: DOID:9009168 name: Shwachman-Diamond Syndrome 2 def: "A disease characterized by exocrine pancreatic dysfunction, hematopoietic abnormalities, short stature, and metaphyseal dysplasia. (OMIM)" [] synonym: "SDS2" EXACT [] xref: MIM:617941 xref: MONDO:0044205 is_a: DOID:0080006 ! bone development disease is_a: DOID:13316 ! exocrine pancreatic insufficiency is_a: DOID:4961 ! bone marrow disease created_by: slaulede creation_date: 2018-06-01T10:52:22Z [Term] id: DOID:9009169 name: LEUKODYSTROPHY AND ACQUIRED MICROCEPHALY WITH OR WITHOUT DYSTONIA synonym: "LDAMD" EXACT [] xref: MIM:616763 is_a: DOID:10579 ! leukodystrophy is_a: DOID:10907 ! microcephaly created_by: slaulede creation_date: 2018-06-19T12:54:58Z [Term] id: DOID:9009171 name: Primary Autosomal Recessive Microcephaly 21 synonym: "MCPH21" EXACT [] xref: MIM:617983 xref: MONDO:0054804 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: slaulede creation_date: 2018-06-19T13:23:01Z [Term] id: DOID:9009172 name: Primary Autosomal Recessive Microcephaly 22 synonym: "MCPH22" EXACT [] xref: MIM:617984 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: slaulede creation_date: 2018-06-19T13:25:50Z [Term] id: DOID:9009173 name: Neurodevelopmental Disorder with Spastic Quadriplegia and Brain Abnormalities with or without Seizures synonym: "Elhattab-Alkuraya syndrome" EXACT [] synonym: "NEDSBAS" EXACT [] xref: MIM:617977 is_a: DOID:10970 ! spastic quadriplegic cerebral palsy is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2018-06-19T13:34:22Z [Term] id: DOID:9009174 name: MHC CLASS II DEFICIENCY 5 def: "An autosomal recessive disorder characterized by defective cell surface expression of class II HLA molecules on the surface of peripheral blood B cells, monocytes, and activated T cells. Caused by homozygous mutation in the RFX5 gene on chromosome 1q21." [MIM:620818] synonym: "Bare Lymphocyte Syndrome Type 2, Complementation Group E" EXACT [] synonym: "BARE LYMPHOCYTE SYNDROME, TYPE II, COMPLEMENTATION GROUP E" EXACT [] synonym: "MHC2D5" EXACT [] xref: MIM:620818 is_a: DOID:5812 ! MHC class II deficiency created_by: tutajm creation_date: 2024-08-19T12:03:01Z [Term] id: DOID:9009175 name: Visceral Myopathy 2 def: "Characterized by gastrointestinal symptoms resulting from intestinal dysmotility and paresis, including abdominal distention, pain, nausea, and vomiting. Caused by heterozygous mutation in the MYH11 gene on chromosome 16p13. (OMIM)" [] synonym: "VSCM2" EXACT [] xref: MIM:619350 is_a: DOID:9002025 ! Familial Visceral Myopathy created_by: mtutaj creation_date: 2021-05-28T13:36:33Z [Term] id: DOID:9009176 name: VERVERI-BRADY SYNDROME def: "A disorder characterized by mild developmental delay, mild intellectual disability and speech delay, and mild dysmorphic facial features. (OMIM)" [] synonym: "VERBRAS" EXACT [] xref: MIM:617982 is_a: DOID:1059 ! intellectual disability is_a: DOID:225 ! syndrome is_a: DOID:9001487 ! Facies is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2018-06-19T14:12:50Z [Term] id: DOID:9009177 name: Spinocerebellar Ataxia 51 def: "An autosomal dominant neurologic disorder characterized by progressive gait abnormalities, ataxia, and dysarthria. Caused by heterozygous trinucleotide (CAG)n repeat expansion in the THAP11 gene on chromosome 16q22." [MIM:620947] synonym: "SCA51" EXACT [] xref: MIM:620947 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: tutajm creation_date: 2024-09-23T14:36:36Z [Term] id: DOID:9009179 name: MYELOFIBROSIS, CONGENITAL, WITH ANEMIA, NEUTROPENIA, DEVELOPMENTAL DELAY, AND def: "This disease is a syndrome characterized by hematologic abnormalities apparent in infancy. Affected individuals have neutropenia, anemia, and variable thrombocytopenia associated with myelofibrosis on bone marrow biopsy. Additional features include severe neurodevelopmental delay with absent speech and inability to walk, delayed bone age, ocular abnormalities, and dysmorphic facial features." [MIM:620939] synonym: "congenital myelofibrosis with anemia, neutropenia, developmental delay, and ocular abnormalities" EXACT [] synonym: "MFANDO" EXACT [] xref: MIM:620939 is_a: DOID:1227 ! neutropenia is_a: DOID:2355 ! anemia is_a: DOID:4971 ! myelofibrosis is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9008296 ! Eye Abnormalities created_by: slaulederkind creation_date: 2024-10-11T09:43:06Z [Term] id: DOID:9009180 name: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED def: "An X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems." [MIM:301056] synonym: "LINKage-specific deubiquitylation deficiency-induced Embryonic Defects" EXACT [] synonym: "LINKED SYNDROME" EXACT [] synonym: "MCAND" EXACT [] xref: MIM:301056 is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2021-03-15T13:39:06Z [Term] id: DOID:9009182 name: Developmental Delay with or without Dysmorphic Facies and Autism def: "A complex neurodevelopmental disorder apparent from infancy or early childhood and associated with variably impaired intellectual development. Genetic analysis has suggested that the phenotype can be broadly categorized into 2 main groups, with severity being the main difference." [MIM:618454] synonym: "DEDDFA" EXACT [] synonym: "TRRAP-RELATED CONDITION" BROAD [] synonym: "TRRAP-RELATED DISORDER" BROAD [] synonym: "TRRAP-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:618454 is_a: DOID:9008086 ! Developmental Disabilities created_by: slaulede creation_date: 2019-09-10T17:50:29Z [Term] id: DOID:9009184 name: Eosinophilic Myocarditis def: "Inflammation in the heart muscle that is caused by the infiltration and destructive activity of a type of white blood cell, the eosinophil. (Wikipedia)" [] is_a: DOID:820 ! myocarditis created_by: slaulede creation_date: 2018-07-24T18:07:46Z [Term] id: DOID:9009185 name: Lymphocytic Myocarditis is_a: DOID:820 ! myocarditis created_by: slaulede creation_date: 2018-07-25T14:14:48Z [Term] id: DOID:9009186 name: Pancreatic Benign Neoplasm def: "A benign neoplasm that is located in the pancreas." [] synonym: "benign neoplasm of pancreas" EXACT [] synonym: "benign tumor of pancreas" EXACT [] is_a: DOID:9003100 ! Pancreatic Neoplasms created_by: slaulede creation_date: 2018-07-27T13:08:28Z [Term] id: DOID:9009187 name: Aerodigestive Tract Squamous Cell Carcinoma synonym: "AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL" EXACT [] synonym: "AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED" NARROW [] synonym: "AERODIGESTIVE TRACT CANCER, SQUAMOUS CELL, ALCOHOL-RELATED, PROTECTION AGAINST" RELATED [] synonym: "nasopharyngeal squamous cell carcinoma" NARROW [] synonym: "Parotid Gland Squamous Cell Carcinoma" NARROW [] xref: EFO:1000058 xref: EFO:1000463 is_a: DOID:1749 ! squamous cell carcinoma created_by: slaulede creation_date: 2018-08-13T13:32:41Z [Term] id: DOID:9009188 name: Hypertrophic Cardiomyopathy 27 def: "A severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. (OMIM)" [] synonym: "ALPK3-RELATED CONDITION" EXACT [] synonym: "CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 27" EXACT [] synonym: "CMH27" EXACT [] synonym: "familial hypertrophic cardiomyopathy 27" EXACT [] xref: MIM:618052 is_a: DOID:0080326 ! familial hypertrophic cardiomyopathy created_by: slaulede creation_date: 2018-08-13T15:12:57Z [Term] id: DOID:9009189 name: Congenital Hydrocephalus 3, with Brain Anomalies synonym: "HYC3" EXACT [] synonym: "HYDROCEPHALUS, NONSYNDROMIC, AUTOSOMAL RECESSIVE 3" EXACT [] xref: MIM:617967 is_a: DOID:10908 ! hydrocephalus created_by: slaulede creation_date: 2018-08-13T15:51:02Z [Term] id: DOID:9009190 name: Karayol-Borroto-Haghshenas Neurodevelopmental Syndrome def: "A disease characterized by developmental delay and impaired intellectual development with a high prevalence of motor disease, dysmorphisms, and psychiatric conditions, including autism spectrum disorder, caused by heterozygous mutation in the MSL2 gene on chromosome 3q22." [MIM:620985] synonym: "KBHS" EXACT [] xref: MIM:620985 is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: tutajm creation_date: 2024-10-18T11:38:14Z [Term] id: DOID:9009191 name: Progressive Familial Intrahepatic Cholestasis 13 def: "An autosomal recessive ciliopathy characterized by onset of progressive liver dysfunction due to intrahepatic and biliary cholestasis. Caused by homozygous mutation in the PSKH1 gene in chromosome 16q22." [MIM:620962] synonym: "Maddirevula-Shagrani-Ji syndrome" EXACT [] synonym: "PFIC13" EXACT [] xref: MIM:620962 is_a: DOID:0070221 ! progressive familial intrahepatic cholestasis created_by: tutajm creation_date: 2024-10-11T14:58:21Z [Term] id: DOID:9009192 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA synonym: "IDDECA" EXACT [] xref: MIM:618060 is_a: DOID:1059 ! intellectual disability created_by: slaulede creation_date: 2018-08-15T11:44:27Z [Term] id: DOID:9009194 name: Autosomal Dominant Intellectual Developmental Disorder 57 synonym: "autosomal dominant mental retardation 57" EXACT [] synonym: "MRD57" EXACT [] synonym: "TLK2-RELATED CONDITION" EXACT [] synonym: "TLK2-RELATED NEURODEVELOPMENTAL DISORDER" EXACT [] xref: MIM:618050 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: slaulede creation_date: 2018-08-15T12:09:54Z [Term] id: DOID:9009196 name: Cerebellar Atrophy with Seizures and Variable Developmental Delay def: "An autosomal recessive neurologic disorder characterized by cerebellar ataxia associated with atrophy of the cerebellar vermis on brain imaging." [MIM:618501] synonym: "CASVDD" EXACT [] xref: MIM:618501 is_a: DOID:1826 ! epilepsy is_a: DOID:9008086 ! Developmental Disabilities is_a: DOID:9277 ! primary cerebellar degeneration created_by: slaulede creation_date: 2019-08-13T15:13:44Z [Term] id: DOID:9009197 name: Alternating Hemiplegia of Childhood 1 def: "Alternating hemiplegia of childhood is a rare syndrome of episodic hemi- or quadriplegia lasting minutes to days. Most cases are accompanied by dystonic posturing, choreoathetoid movements, nystagmus, other ocular motor abnormalities, autonomic disturbances, and progressive cognitive impairment. Alternating hemiplegia of childhood-1 (AHC1) is caused by heterozygous mutation in the ATP1A2 gene on chromosome 1q23. (OMIM)" [MIM:104290] synonym: "AHC1" EXACT [] xref: MIM:104290 is_a: DOID:0050635 ! alternating hemiplegia of childhood created_by: mtutaj creation_date: 2019-03-19T00:00:00Z [Term] id: DOID:9009200 name: Postaxial Polydactyly, Type A7 def: "Postaxial polydactyly restricted to the feet, with well-developed nails present on the extra digits and attachment of both the fifth and sixth toes to a broad 2-headed fifth metatarsal. (OMIM)" [] synonym: "PAPA7" EXACT [] xref: MIM:617642 is_a: DOID:9003071 ! Postaxial Polydactyly created_by: slaulede creation_date: 2018-08-16T10:10:06Z [Term] id: DOID:9009203 name: Gastrointestinal defects and immunodeficiency syndrome synonym: "GIDID" EXACT [] xref: MIM:PS243150 is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:77 ! gastrointestinal system disease created_by: tutajm creation_date: 2024-08-23T12:16:25Z [Term] id: DOID:9009204 name: SEIZURES, SCOLIOSIS, AND MACROCEPHALY SYNDROME synonym: "SSMS" EXACT [] xref: MIM:616682 is_a: DOID:0060249 ! scoliosis is_a: DOID:1826 ! epilepsy is_a: DOID:225 ! syndrome is_a: DOID:9003816 ! Macrocephaly created_by: slaulede creation_date: 2018-08-17T13:45:07Z [Term] id: DOID:9009205 name: Bronchiectasis and Nasal Polyposis def: "An autosomal recessive airway disease characterized by chronic infection of the airways resulting in rhinosinusitis and pronounced nasal polyposis, caused by homozygous or compound heterozygous mutation in the WFDC2 gene on chromosome 20q13." [MIM:620984] synonym: "BENP" EXACT [] xref: MIM:620984 is_a: DOID:9001472 ! Nasal Polyps is_a: DOID:9563 ! bronchiectasis created_by: tutajm creation_date: 2024-10-18T11:51:23Z [Term] id: DOID:9009206 name: Microphthalmia/Coloboma 13 def: "An autosomal recessive disorder characterized by variable ocular anomalies, even between eyes within the same patient. Caused by homozygous mutation in an enhancer for the IHH gene located within the NHEJ1 gene on chromosome 2q35." [MIM:620968] synonym: "MCOPCB13" EXACT [] xref: MIM:620968 is_a: DOID:9002642 ! Isolated Microphthalmia with Coloboma created_by: tutajm creation_date: 2024-10-11T14:55:52Z [Term] id: DOID:9009207 name: Alcohol Myopathy def: "Skeletal muscle dysfunction as a result of alcohol use disorder." [PMID:28988574] synonym: "Alcoholic myopathic syndrome" EXACT [] synonym: "alcoholic myopathy" EXACT [] synonym: "Alcoholic myositis" EXACT [] is_a: DOID:423 ! myopathy is_a: DOID:9004354 ! Alcohol-Related Disorders created_by: slaulede creation_date: 2018-08-17T17:55:47Z [Term] id: DOID:9009208 name: Gingival Fibromatosis 6 def: "An autosomal dominant disorder characterized by gingival overgrowth, beginning in the first decade of life. Caused by heterozygous mutation in the ZNF862 gene on chromosome 7q36." [MIM:620999] synonym: "GINGF6" EXACT [] xref: MIM:620999 is_a: DOID:0060466 ! gingival fibromatosis created_by: tutajm creation_date: 2024-11-05T11:11:05Z [Term] id: DOID:9009209 name: Immunodeficiency 128 def: "An autosomal recessive primary immunologic disorder characterized by the onset of recurrent bacterial and viral infections in the first year of life. Caused by homozygous mutation in the COPG1 gene on chromosome 3q21." [] synonym: "IMD128" EXACT [] xref: MIM:620983 is_a: DOID:612 ! primary immunodeficiency disease created_by: tutajm creation_date: 2024-10-25T13:46:28Z [Term] id: DOID:9009211 name: Pancreatic Agenesis 3 def: "An autosomal recessive disorder characterized by neonatal diabetes and exocrine pancreatic insufficiency caused by homozygous or compound heterozygous mutation in the ZNF808 gene on chromosome 19q13." [MIM:620991] synonym: "PAGEN3" EXACT [] xref: MIM:620991 is_a: DOID:0050877 ! pancreatic agenesis created_by: tutajm creation_date: 2024-11-04T12:15:02Z [Term] id: DOID:9009212 name: ACTH-independent Macronodular Adrenal Hyperplasia 3 def: "ACTH-independent macronodular adrenal hyperplasia caused by heterozygous mutation in the KDM1A gene on chromosome 1p36." [] synonym: "AIMAH3" EXACT [] synonym: "CUSHING SYNDROME, FOOD-DEPENDENT" EXACT [] synonym: "FDCS" EXACT [] xref: MIM:620990 is_a: DOID:0111622 ! ACTH-independent macronodular adrenal hyperplasia created_by: tutajm creation_date: 2024-11-04T11:11:46Z [Term] id: DOID:9009213 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES synonym: "FBXO11-RELATED CONDITION" EXACT [] synonym: "IDDFBA" EXACT [] xref: MIM:618089 is_a: DOID:1059 ! intellectual disability is_a: DOID:150 ! disease of mental health is_a: DOID:9001487 ! Facies created_by: slaulede creation_date: 2018-09-12T15:17:46Z [Term] id: DOID:9009214 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES synonym: "BCL11B-RELATED BAFOPATHY" BROAD [] synonym: "BCL11B-RELATED CONDITION" BROAD [] synonym: "IDDSFTA" EXACT [] xref: MIM:618092 is_a: DOID:1059 ! intellectual disability is_a: DOID:612 ! primary immunodeficiency disease is_a: DOID:9001487 ! Facies is_a: DOID:9005466 ! Language Development Disorders created_by: slaulede creation_date: 2018-09-12T15:33:23Z [Term] id: DOID:9009217 name: Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange 2 def: "An autosomal recessive disorder characterized by intrauterine growth restriction, poor postnatal growth with short stature and microcephaly, and increased sister chromatid exchange on cell studies." [MIM:618097] synonym: "MGRISCE2" EXACT [] xref: MIM:618097 xref: MONDO:0020628 is_a: DOID:9009080 ! Microcephaly, Growth Restriction, and Increased Sister Chromatid Exchange created_by: slaulede creation_date: 2018-09-12T15:56:20Z [Term] id: DOID:9009218 name: MIRAGE Syndrome def: "A form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy." [MIM:617053] synonym: "MIRAGE" EXACT [] synonym: "myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy" EXACT [] xref: MIM:617053 xref: NCI:C147530 is_a: DOID:13774 ! Addison's disease is_a: DOID:4961 ! bone marrow disease is_a: DOID:9007653 ! Multiple Abnormalities created_by: slaulede creation_date: 2018-09-12T16:23:39Z [Term] id: DOID:9009219 name: Diabetic Embryopathy def: "Pathophysiological condition(s) of the fetus in the uterus, as a result of maternal diabetes." [] is_a: DOID:9001984 ! Fetal Diseases is_a: DOID:9002661 ! Diabetes Complications is_a: DOID:9004702 ! Pregnancy Complications created_by: slaulede creation_date: 2018-09-12T16:57:42Z [Term] id: DOID:9009220 name: NEURODEVELOPMENTAL DISORDER WITH CEREBELLAR ATROPHY AND WITH OR WITHOUT SEIZURES synonym: "BRAT1-ASSOCIATED NEURODEGENERATIVE DISORDER" NARROW [] synonym: "NEDCAS" EXACT [] xref: MIM:618056 is_a: DOID:1826 ! epilepsy is_a: DOID:9004429 ! Neurodevelopmental Disorders is_a: DOID:9277 ! primary cerebellar degeneration created_by: slaulede creation_date: 2018-09-13T09:39:53Z [Term] id: DOID:9009221 name: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM synonym: "NEDEHCC" EXACT [] xref: MIM:618090 is_a: DOID:1826 ! epilepsy is_a: DOID:9001999 ! Agenesis of Corpus Callosum is_a: DOID:9004429 ! Neurodevelopmental Disorders created_by: slaulede creation_date: 2018-09-13T09:48:48Z [Term] id: DOID:9009224 name: IMMUNODEFICIENCY 125 def: "This disease is an autosomal recessive inborn error of immunity characterized by recurrent diarrhea and failure to thrive beginning in infancy followed by recurrent bacterial, viral, and fungal infections. Notably, affected individuals have severe HPV infections with disseminated common warts and oral HSV infections. The bone marrow is hypoplastic with low levels of CD34+ hematopoietic stem cells. Laboratory studies show anemia, decreased B cells, severely decreased monocytes, and decreased dendritic cells." [MIM:620926] synonym: "IMD125" EXACT [] xref: MIM:620926 is_a: DOID:612 ! primary immunodeficiency disease created_by: slaulederkind creation_date: 2024-09-17T17:23:50Z [Term] id: DOID:9009225 name: Episodic Kinesigenic Dyskinesia xref: MIM:PS128200 xref: MONDO:0044202 is_a: DOID:543 ! dystonia created_by: tutajm creation_date: 2024-05-03T09:27:14Z [Term] id: DOID:9009229 name: Homocystinuria-megaloblastic anemia cblD type synonym: "HMAD" EXACT [] synonym: "Homocystinuria, cblD type, variant 1" EXACT [] xref: MIM:620952 is_a: DOID:9009103 ! Homocystinuria-Megaloblastic Anemia created_by: tutajm creation_date: 2024-10-03T15:19:25Z [Term] id: DOID:9009231 name: Spinocerebellar Ataxia 42, Early-Onset, Severe, with Neurodevelopmental Deficits synonym: "CACNA1G-RELATED CONDITION" BROAD [] synonym: "early-onset severe spinocerebellar ataxia-42 with neurodevelopmental deficits" EXACT [] synonym: "SCA42ND" EXACT [] xref: MIM:618087 is_a: DOID:1441 ! autosomal dominant cerebellar ataxia created_by: slaulede creation_date: 2018-09-14T14:26:05Z [Term] id: DOID:9009232 name: Retinitis Pigmentosa 98 def: "An autosomal recessive disorder characterized by onset of night blindness in early childhood, with gradual loss of peripheral vision and later of central vision. Caused by homozygous or compound heterozygous mutation in the TMEM216 gene on chromosome 11q12." [MIM:620996] synonym: "RP98" EXACT [] xref: MIM:620996 is_a: DOID:10584 ! retinitis pigmentosa created_by: tutajm creation_date: 2024-11-05T10:55:43Z [Term] id: DOID:9009233 name: Immunodeficiency 127 def: "Autosomal recessive immunologic disorder characterized by increased susceptibility to recurrent pulmonary infection with Mycobacterium tuberculosis (TB). Caused by homozygous mutation in the TNF gene on chromosome 6p21." [MIM:620977] synonym: "IMD127" EXACT [] synonym: "Immunodeficiency 127, mycobacteriosis, autosomal recessive" EXACT [] xref: MIM:620977 is_a: DOID:612 ! primary immunodeficiency disease created_by: tutajm creation_date: 2024-10-18T11:27:24Z [Term] id: DOID:9009234 name: Hypomyelinating Leukodystrophy 28 def: "An autosomal recessive disorder characterized by developmental delay and nystagmus in infancy, followed by significant learning disabilities and progressive motor deterioration within the first decade. Caused by homozygous mutation in the MAL gene on chromosome 2q11." [MIM:620978] synonym: "HLD28" EXACT [] xref: MIM:620978 is_a: DOID:0060786 ! hypomyelinating leukodystrophy created_by: tutajm creation_date: 2024-10-18T10:47:04Z [Term] id: DOID:9009235 name: Extraoral Halitosis due to Methanethiol Oxidase Deficiency synonym: "EHMTO" EXACT [] synonym: "EXTRAORAL HALITOSIS WITH DIMETHYLSULFOXIDURIA" EXACT [] synonym: "METHANETHIOL OXIDASE DEFICIENCY" EXACT [] synonym: "MTO DEFICIENCY" EXACT [] xref: MIM:618148 is_a: DOID:9000977 ! Halitosis created_by: slaulede creation_date: 2019-01-14T14:25:07Z [Term] id: DOID:9009236 name: POLYCYSTIC KIDNEY DISEASE 8 def: "This disease is an autosomal dominant disorder characterized by enlarged kidneys, arterial hypertension, and kidney failure." [MIM:620903] synonym: "PKD8" EXACT [] xref: MIM:620903 is_a: DOID:898 ! autosomal dominant polycystic kidney disease created_by: slaulederkind creation_date: 2024-09-19T10:51:05Z [Term] id: DOID:9009237 name: INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY synonym: "IBDIMDE" EXACT [] xref: EFO:0010258 xref: MIM:618213 is_a: DOID:0050589 ! inflammatory bowel disease is_a: DOID:2914 ! immune system disease is_a: DOID:9005627 ! Metabolic Brain Diseases created_by: slaulede creation_date: 2019-01-14T17:59:58Z [Term] id: DOID:9009238 name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES synonym: "IDDHDF" EXACT [] xref: MIM:618147 is_a: DOID:1059 ! intellectual disability is_a: DOID:9001487 ! Facies is_a: DOID:9003133 ! Hypertelorism created_by: slaulede creation_date: 2019-01-15T10:23:04Z [Term] id: DOID:9009239 name: Intellectual Developmental Disorder with Macrocephaly, Seizures, and Speech Delay def: "This disease is a neurodevelopmental disorder characterized by impaired intellectual development, poor speech, postnatal macrocephaly, and seizures." [MIM:618158] synonym: "IDDMSSD" EXACT [] synonym: "PAK1-RELATED CONDITION" EXACT [] synonym: "PAK1-RELATED NEURODEVELOPMENTAL DISORDERS" EXACT [] xref: EFO:0010259 xref: MIM:618158 is_a: DOID:1059 ! intellectual disability is_a: DOID:1826 ! epilepsy is_a: DOID:9003816 ! Macrocephaly is_a: DOID:9005466 ! Language Development Disorders created_by: slaulede creation_date: 2019-01-15T10:29:42Z [Term] id: DOID:9009240 name: Isolated Growth Hormone Deficiency Type V def: "A disease characterized by severe postnatal growth failure, delayed bone age without bone dysplasia, and hypoplasia of the anterior pituitary." [MIM:618160] synonym: "combined or isolated pituitary hormone deficiency 7" EXACT [] synonym: "CPHD7" EXACT [] synonym: "IGHD5" EXACT [] xref: MIM:618160 xref: MONDO:0032569 is_a: DOID:0060870 ! isolated growth hormone deficiency created_by: slaulede creation_date: 2019-01-15T12:19:04Z [Term] id: DOID:9009241 name: Liddle Syndrome 3 synonym: "LIDLS3" EXACT [] xref: MIM:618126 is_a: DOID:0050477 ! Liddle syndrome created_by: slaulede creation_date: 2019-01-15T12:24:37Z [Term] id: DOID:9009243 name: Primary Autosomal Recessive Microcephaly 24 synonym: "MCPH24" EXACT [] xref: MIM:618179 is_a: DOID:0070296 ! primary autosomal recessive microcephaly created_by: slaulede creation_date: 2019-01-15T12:37:17Z [Term] id: DOID:9009244 name: Microcephaly, Facial Dysmorphism, Renal Agenesis, and Ambiguous Genitalia Syndrome def: "An autosomal dominant syndrome in which microcephaly, unilateral renal agenesis, ambiguous genitalia, and facial dysmorphisms, including severe micrognathia, are observed in most patients." [MIM:618142] synonym: "MFRG" EXACT [] xref: MIM:618142 is_a: DOID:10907 ! microcephaly is_a: DOID:14766 ! renal agenesis is_a: DOID:1923 ! disorder of sexual development is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulede creation_date: 2019-01-15T12:51:12Z [Term] id: DOID:9009245 name: Congenital Myasthenic Syndrome 23 synonym: "CMS23" EXACT [] synonym: "congenital myasthenic syndrome 23, presynaptic" EXACT [] synonym: "SLC25A1-RELATED CONDITION" BROAD [] xref: MIM:618197 is_a: DOID:3635 ! congenital myasthenic syndrome created_by: slaulede creation_date: 2019-01-15T13:27:34Z [Term] id: DOID:9009246 name: Congenital Myasthenic Syndrome 24 synonym: "CMS24" EXACT [] synonym: "MYO9A-RELATED CONDITION" EXACT [] synonym: "presynaptic congenital myasthenic syndrome-24" EXACT [] xref: MIM:618198 is_a: DOID:3635 ! congenital myasthenic syndrome created_by: slaulede creation_date: 2019-01-15T13:31:11Z [Term] id: DOID:9009247 name: Autosomal Dominant Intellectual Developmental Disorder 75 def: "A neurodevelopmental disorder with highly variable severity and features. Caused by heterozygous mutation in the DHX9 gene on chromosome 1q25." [MIM:620988] synonym: "MRD75" EXACT [] xref: MIM:620988 is_a: DOID:0060307 ! autosomal dominant intellectual developmental disorder created_by: tutajm creation_date: 2024-11-05T10:43:39Z [Term] id: DOID:9009248 name: Orofaciodigital Syndrome XXI def: "An X-linked recessive disorder characterized by oral, facial, and digital anomalies, in association with hypoplasia or aplasia of the pituitary gland and resulting hormone deficiencies, caused by mutation in the ZRSR2 gene on chromosome Xp22." [MIM:301132] synonym: "OFD21" EXACT [] xref: MIM:301132 is_a: DOID:4501 ! orofaciodigital syndrome created_by: tutajm creation_date: 2024-11-04T12:53:42Z [Term] id: DOID:9009249 name: Myopathy with Myalgia, increased Serum Creatine Kinase, and with or without Episodic Rhabdomyolysis 2 def: "An autosomal dominant mild skeletal muscle disorder characterized by myalgia, muscle cramps, exercise intolerance, and increased serum creatine kinase with onset between the first and fourth decades of life. Caused by heterozygous mutation in the DTNA gene on chromosome 18q12." [MIM:620971] synonym: "MMCKR2" EXACT [] xref: MIM:620971 is_a: DOID:423 ! myopathy is_a: DOID:9003760 ! Myalgia created_by: tutajm creation_date: 2024-10-25T13:50:17Z [Term] id: DOID:9009250 name: Familial Isolated Hyperparathyroidism synonym: "FIHPT" EXACT [] synonym: "hereditary isolated hyperparathyroidism" EXACT [] xref: GARD:16923 xref: MONDO:0015027 xref: NCI:C94830 xref: ORDO:99879 is_a: DOID:11202 ! primary hyperparathyroidism created_by: tutajm creation_date: 2024-10-22T15:24:04Z [Term] id: DOID:9009251 name: Oocyte Maturation Defect 5 def: "A disease characterized by female infertility due to inability of the oocyte to exit metaphase II, resulting in fertilization failure." [] synonym: "Oocyte/zygote/embryo maturation arrest 5" EXACT [] synonym: "OOMD5" EXACT [] synonym: "OZEMA5" EXACT [] xref: MIM:617996 is_a: DOID:9007456 ! Female Infertility created_by: slaulede creation_date: 2019-01-15T18:04:10Z [Term] id: DOID:9009252 name: Orthostatic Hypotension 2 def: "An autosomal recessive disorder characterized by severe orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood. The disorder results from a defect in the biosynthesis of norepinephrine from dopamine due to a cofactor deficiency." [MIM:618182] synonym: "ORTHYP2" EXACT [] xref: MIM:618182 is_a: DOID:9005950 ! Orthostatic Hypotension created_by: slaulede creation_date: 2019-01-16T10:47:10Z [Term] id: DOID:9009253 name: Autosomal Dominant Osteopetrosis 3 def: "A disease characterized by phenotypic variability: some patients have typical features of osteopetrosis, including fractures after minor trauma, early tooth loss, anemia, hepatosplenomegaly, and a generalized increase in bone mineral density, whereas other patients exhibit localized osteosclerosis and generalized osteopenia." [MIM:618107] synonym: "OPTA3" EXACT [] synonym: "OSTEOPETROSIS, AUTOSOMAL DOMINANT 3" EXACT [] xref: MIM:618107 is_a: DOID:13533 ! osteopetrosis created_by: slaulede creation_date: 2019-01-16T10:56:45Z [Term] id: DOID:9009254 name: Monosomy 7 Myelodysplasia and Leukemia Syndrome xref: MIM:PS252270 is_a: DOID:0050908 ! myelodysplastic syndrome is_a: DOID:0060388 ! chromosomal deletion syndrome is_a: DOID:9119 ! acute myeloid leukemia created_by: mtutaj creation_date: 2021-05-12T15:30:25Z [Term] id: DOID:9009255 name: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES def: "A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes (PHA), short stature, and mild skeletal anomalies." [MIM:618019] synonym: "PHASK" EXACT [] synonym: "rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly" EXACT [] synonym: "RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY" NARROW [] synonym: "SKPHA" EXACT [] xref: MIM:618019 is_a: DOID:0080006 ! bone development disease is_a: DOID:9631 ! Pelger-Huet anomaly created_by: slaulede creation_date: 2019-01-16T15:13:39Z [Term] id: DOID:9009256 name: hereditary spastic paraplegia 59 def: "This disease is a hereditary spastic paraplegia that has_material_basis_in mutation in the USP8 gene on chromosome 15q21.2." [https://www.ncbi.nlm.nih.gov/clinvar/variation/704010/] synonym: "autosomal recessive spastic paraplegia 59" EXACT [] synonym: "AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59" EXACT [] synonym: "SPG59" EXACT [] xref: EFO:MONDO:0018416 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:2476 ! hereditary spastic paraplegia created_by: slaulederkind creation_date: 2024-11-12T09:50:11Z [Term] id: DOID:9009257 name: CLEFT LIP AND PALATE-CRANIOFACIAL DYSMORPHISM-CONGENITAL HEART DEFECT-HEARING LOSS SYNDROME def: "This is a syndromic disease that has developmental abnormalities involving structures of the heart, cleft lip/palate, craniofacial dysmoprhism, and hearing loss. It has_material_basis_in mutation in the HYAL2 gene on chromosome 3p21.31." [https://www.ncbi.nlm.nih.gov/clinvar/variation/3340536/] synonym: "CLEFT LIP AND PALATE/CRANIOFACIAL DYSMORPHISM/CONGENITAL HEART DEFECT/HEARING LOSS SYNDROME" EXACT [] synonym: "cleft lip and palate, craniofacial dysmorphism, congenital heart defect, deafness syndrome" EXACT [] synonym: "hyaluronidase 2 deficiency" EXACT [] is_a: DOID:0050567 ! orofacial cleft is_a: DOID:1682 ! congenital heart disease is_a: DOID:9004538 ! Hearing Loss is_a: DOID:9008731 ! Craniofacial Abnormalities created_by: slaulederkind creation_date: 2024-11-12T12:06:23Z [Term] id: DOID:9009258 name: Primary Ovarian Insufficiency 25 def: "An autosomal recessive disorder characterized by irregular menses followed by early menopause. Ovaries appear atrophic on ultrasound, with few to no follicles. Caused by homozygous or compound heterozygous mutation in the SPATA22 gene on chromosome 17p13." [MIM:621002] synonym: "POF25" EXACT [] synonym: "Premature ovarian failure 25" EXACT [] xref: MIM:621002 is_a: DOID:5426 ! primary ovarian insufficiency created_by: tutajm creation_date: 2024-11-12T17:15:42Z [Term] id: DOID:9009259 name: Spermatogenic Failure 96 def: "An autosomal recessive disorder characterized by male infertility due to nonobstructive azoospermia. Caused by homozygous mutation in the SPATA22 gene on chromosome 17p13." [MIM:621001] synonym: "SPGF96" EXACT [] xref: MIM:621001 is_a: DOID:0111910 ! spermatogenic failure created_by: tutajm creation_date: 2024-11-12T17:18:18Z [Term] id: DOID:9009260 name: Non-syndromic X-linked intellectual developmental disorder 114 def: "A disease characterized by impaired intellectual development, agenesis of the corpus callosum, abnormal eye movement, and ataxia. Caused by hemizygous mutation in the SRPK3 gene on chromosome Xq28." [MIM:301134] synonym: "Intellectual developmental disorder, X-linked 114" EXACT [] synonym: "XLID114" EXACT [] xref: MIM:301134 is_a: DOID:0050776 ! non-syndromic X-linked intellectual disability created_by: tutajm creation_date: 2024-11-12T17:20:57Z [Term] id: DOID:901 name: liver lymphoma synonym: "Lymphoma of Liver" EXACT [] xref: NCI:C4949 is_a: DOID:0060058 ! lymphoma is_a: DOID:3571 ! liver cancer created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9011 name: larynx carcinoma in situ def: "An in situ carcinoma that is located_in the larynx. (DO)" [https://pubmed.ncbi.nlm.nih.gov/1934549/ "DO"] synonym: "carcinoma in situ of larynx" EXACT [] synonym: "stage 0 carcinoma of the larynx" EXACT [] xref: ICD10CM:D02.0 xref: ICD9CM:231.0 is_a: DOID:1542 ! head and neck carcinoma is_a: DOID:8719 ! in situ carcinoma is_a: DOID:9003613 ! Laryngeal Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9021 name: esophageal leukoplakia synonym: "leukoplakia of esophagus" EXACT [] xref: ICD9CM:530.83 xref: NCI:C3953 xref: RDO:9004493 is_a: DOID:6050 ! esophageal disease is_a: DOID:9005065 ! Leukoplakia created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:9024 name: intestine carcinoma in situ def: "An in situ carcinoma that is located_in the intestine. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/carcinoma-in-situ "DO"] xref: ICD10CM:D01.4 xref: ICD9CM:230.7 is_a: DOID:8719 ! in situ carcinoma is_a: DOID:9002245 ! Intestinal Neoplasms created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:903 name: gastrointestinal lymphoma xref: NCI:C38162 is_a: DOID:0060058 ! lymphoma is_a: DOID:3119 ! gastrointestinal system cancer [Term] id: DOID:9036 name: parotid gland cancer def: "A salivary gland cancer that is located_in the parotid gland. (DO)" [http://en.wikipedia.org/wiki/Parotid_gland "DO"] synonym: "cancer of parotid" EXACT [] synonym: "cancer of parotid gland" EXACT [] synonym: "Cancer of the Parotid" EXACT [] synonym: "malignant neoplasm of the parotid" EXACT [] synonym: "malignant tumor of parotid gland" EXACT [] synonym: "Parotid Cancer" EXACT [] synonym: "parotid cancers" EXACT [] synonym: "Parotid Gland Carcinoma" NARROW [] xref: EFO:1000460 xref: ICD10CM:C07 xref: ICD9CM:142.0 xref: NCI:C3525 is_a: DOID:8850 ! salivary gland cancer is_a: DOID:9000769 ! Parotid Neoplasms [Term] id: DOID:9042 name: polyp of corpus uteri synonym: "endometrial/uterine polyp" EXACT [] synonym: "polyp of endometrium" EXACT [] synonym: "polyp of the uterus" EXACT [] synonym: "uterus polyp" EXACT [] xref: EFO:0009484 xref: EFO:1000237 xref: ICD10CM:N84.0 xref: ICD9CM:621.0 xref: NCI:C3662 is_a: DOID:1005 ! endometrial disease is_a: DOID:9003896 ! Polyps created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:9043 name: uterine cervix leukoplakia def: "A cervix disease that is characterized by the presence of a hyperkeratotic lesion. (DO)" [https://www.ajog.org/article/0002-9378(73)91053-3/abstract?code=ymob-site "DO"] synonym: "leukoplakia of cervix" EXACT [] synonym: "leukoplakia of cervix uteri" EXACT [] synonym: "leukoplakia of the uterine cervix" EXACT [] xref: ICD10CM:N88.0 xref: ICD9CM:622.2 xref: NCI:C3976 is_a: DOID:2253 ! cervix disease [Term] id: DOID:905 name: Zellweger syndrome def: "A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes. (DO)" [http://en.wikipedia.org/wiki/Zellweger_Syndrome "DO", http://www.ninds.nih.gov/disorders/zellweger/zellweger.htm "DO", http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=912 "DO"] synonym: "cerebro hepato renal syndrome" EXACT [] synonym: "cerebrohepatorenal syndrome" EXACT [] synonym: "congenital iron overload" EXACT [] synonym: "PBD, ZSS" EXACT [] synonym: "peroxisome biogenesis disorders, Zellweger syndrome spectrum" EXACT [] synonym: "Zellweger's syndrome" EXACT [] synonym: "Zellweger Disease" EXACT [] synonym: "Zellweger Like Syndrome" EXACT [] synonym: "Zellweger Spectrum" EXACT [] synonym: "Zellweger syndrome spectrum" EXACT [] synonym: "ZS" EXACT [] synonym: "ZWS" EXACT [] xref: GARD:7917 xref: ICD10CM:E71.510 xref: MESH:D015211 xref: NCI:C85239 xref: ORDO:912 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:0080377 ! peroxisomal biogenesis disorder is_a: DOID:225 ! syndrome is_a: DOID:409 ! liver disease is_a: DOID:557 ! kidney disease is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9053 name: bladder carcinoma in situ def: "An in situ carcinoma that is located_in the bladder. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647140/ "DO"] synonym: "bladder Ca in situ" EXACT [SNOMEDCT_2005_07_31:269650008] synonym: "carcinoma in situ of bladder" EXACT [] synonym: "Flat CIS of the urinary bladder" EXACT [NCI2004_11_17:C3644] xref: ICD10CM:D09.0 xref: ICD9CM:233.7 xref: NCI:C3644 xref: RDO:9003589 is_a: DOID:4007 ! bladder carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:906 name: peroxisomal disease def: "An inherited metabolic disorder that involves peroxisome malfunction. (DO)" [http://en.wikipedia.org/wiki/Peroxisomal_disorder "DO"] synonym: "Adrenoleukodystrophy, Autosomal Neonatal Form" NARROW [] synonym: "General Peroxisomal Dysfunction" EXACT [] synonym: "general peroxisomal dysfunctions" EXACT [] synonym: "Hyperpipecolatemia" NARROW [] synonym: "Hyperpipecolic Acidemia" NARROW [] synonym: "Hyperpipecolic Acidemias" NARROW [] synonym: "Multiple Peroxisomal Dysfunction" EXACT [] synonym: "Multiple Peroxisomal Dysfunctions" EXACT [] synonym: "Neonatal Adrenoleukodystrophies" NARROW [] synonym: "Neonatal Adrenoleukodystrophy" NARROW [] synonym: "Peroxisomal Disorder" EXACT [] synonym: "Peroxisomal Disorders" EXACT [] synonym: "peroxisome biogenesis disorder, complementation group 7" NARROW [] synonym: "Single Peroxisomal Dysfunction" EXACT [] synonym: "single peroxisomal dysfunctions" EXACT [] xref: EFO:0010956 xref: ICD10CM:E71.5 xref: ICD9CM:277.86 xref: MESH:D018901 xref: NCI:C125593 xref: NCI:C85005 xref: NCI:C99251 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9060 name: pityriasis versicolor def: "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Superficial/Malassezia_infections/ "DO"] synonym: "infection by Pityrosporum furfur" EXACT [] synonym: "Tinea Versicolor" EXACT [] xref: EFO:0007439 xref: ICD10CM:B36.0 xref: ICD9CM:111.0 xref: MESH:D014010 xref: NCI:C112833 xref: NCI:C82981 is_a: DOID:0050133 ! superficial mycosis is_a: DOID:1563 ! dermatomycosis [Term] id: DOID:9063 name: Ritter's disease def: "A commensal bacterial infectious disease that is characterized by widespread erythema, peeling, and necrosis of the skin, that is caused by a toxin produced by a bacterium of the genus Staphylococcus (S. aureus). The infection has_symptom redness of skin, has_symptom fluid-filled blister formation, has_symptom fever and has_symptom irritability. (DO)" [http://en.wikipedia.org/wiki/Ritter%27s_disease "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=staphylococcal+scalded+skin "DO"] synonym: "dermatitis exfoliativa neonatorum" EXACT [] synonym: "Pemphigus neonatorum" EXACT [] synonym: "Ritter Disease" EXACT [] synonym: "Ritters Disease" EXACT [] synonym: "scalded skin syndrome" EXACT [] synonym: "Staphylococcal Scalded Skin Syndrome" EXACT [] synonym: "Staphylococcal Scalded-Skin Syndromes" EXACT [] synonym: "toxic epidermal necrolysis, subcorneal type" EXACT [] xref: EFO:0007473 xref: ICD10CM:L00 xref: ICD9CM:695.81 xref: MESH:D013206 xref: NCI:C85077 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:9005966 ! Staphylococcal Skin Infections [Term] id: DOID:9065 name: leishmaniasis def: "A parasitic protozoa infectious disease that involves infection caused by protozoan parasite of the genus Leishmania, which is transmitted by the bite of sand fly (subfamily Phlebotominae). (DO)" [http://www.cdc.gov/ncidod/dpd/parasites/leishmania/factsht_leishmania.htm "DO"] synonym: "leishmaniases" EXACT [] synonym: "post-kala-azar dermal infectious disease by leishmaniasis" RELATED [] synonym: "post-kala-azar dermal leishmaniasis" RELATED [] xref: EFO:0005044 xref: GARD:6881 xref: ICD10CM:B55 xref: ICD9CM:085 xref: MESH:D007896 xref: NCI:C34767 xref: ORDO:507 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9007293 ! Euglenozoa Infections is_a: DOID:9007630 ! Parasitic Skin Diseases [Term] id: DOID:907 name: liver fibroma synonym: "fibroma of the liver" RELATED [] xref: NCI:C5752 is_a: DOID:0050871 ! fibroma is_a: DOID:916 ! liver benign neoplasm created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9072 name: lethal midline granuloma alt_id: RDO:0005700 def: "A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS." [MESH:D006103] synonym: "granuloma gangraenescens" EXACT [] synonym: "Lethal Midline Granulomas" EXACT [] synonym: "malignant granuloma of face" EXACT [] synonym: "midfacial necrotising lesion" EXACT [] synonym: "Polymorphic Reticuloses" EXACT [] synonym: "polymorphic reticulosis" EXACT [] xref: EFO:1001013 xref: GARD:9622 xref: ICD10CM:M31.2 xref: ICD9CM:446.3 xref: MESH:D006103 xref: NCI:C8196 is_a: DOID:2825 ! nose disease [Term] id: DOID:9074 name: systemic lupus erythematosus alt_id: MIM:152700 alt_id: MIM:300809 alt_id: MIM:601744 alt_id: MIM:605218 alt_id: MIM:605480 alt_id: MIM:607279 alt_id: MIM:608437 alt_id: MIM:609903 alt_id: MIM:609939 alt_id: MIM:610065 alt_id: MIM:610066 alt_id: MIM:610927 alt_id: MIM:612251 alt_id: MIM:612253 alt_id: MIM:612254 alt_id: MIM:612378 alt_id: MIM:613145 def: "A lupus erythematosus that is an inflammation of connective tissue marked by skin rashes, joint pain and swelling, inflammation of the kidneys and inflammation of the tissue surrounding the heart. (DO)" [http://en.wikipedia.org/wiki/Systemic_lupus_erythematosus "DO"] synonym: "CR2-RELATED CONDITION" BROAD [] synonym: "disseminated lupus erythematosus" EXACT [] synonym: "excess LMW-DNA" NARROW [] synonym: "EXCESS LYMPHOCYTE LOW MOLECULAR WEIGHT DNA" NARROW [] synonym: "Libman Sacks disease" EXACT [] synonym: "Lupus Erythematosus Disseminatus" EXACT [] synonym: "SLE" EXACT [] synonym: "SLEB1" RELATED [] synonym: "SLEB10" RELATED [] synonym: "SLEB11" RELATED [] synonym: "SLEB12" RELATED [] synonym: "SLEB13" RELATED [] synonym: "SLEB14" RELATED [] synonym: "SLEB15" RELATED [] synonym: "SLEB2" RELATED [] synonym: "SLEB3" RELATED [] synonym: "SLEB4" RELATED [] synonym: "SLEB5" RELATED [] synonym: "SLEB6" RELATED [] synonym: "SLEB7" RELATED [] synonym: "SLEB8" RELATED [] synonym: "SLEB9" RELATED [] synonym: "SLEH1" EXACT [] synonym: "SLE - systemic lupus erythematosus" EXACT [] synonym: "STAT4-RELATED CONDITION" BROAD [] synonym: "SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH" RELATED [] synonym: "Systemic Lupus Erythematosus, Association With 2" RELATED [] synonym: "systemic lupus erythematosus, association with susceptibility to, 10" RELATED [] synonym: "SYSTEMIC LUPUS ERYTHEMATOSUS, ASSOCIATION WITH SUSCEPTIBILITY TO, 2" RELATED [] synonym: "systemic lupus erythematosus, hemolytic anemia-related" EXACT [] synonym: "systemic lupus erythematosus, resistance to, 1" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 1" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 10" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 11" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 12" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 13" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 14" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 15" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 2" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 3" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 4" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 5" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 6" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 7" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 8" RELATED [] synonym: "systemic lupus erythematosus, susceptibility to, 9" RELATED [] synonym: "systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1" RELATED [] xref: EFO:0002690 xref: GARD:10253 xref: ICD10CM:M32.9 xref: ICD9CM:710.0 xref: MESH:D008180 xref: MONDO:0007915 xref: NCI:C3201 xref: ORDO:536 is_a: DOID:65 ! connective tissue disease is_a: DOID:8857 ! lupus erythematosus is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9076 name: discoid lupus erythematosus of eyelid xref: ICD10CM:H01.12 xref: ICD9CM:373.34 xref: RDO:9003502 is_a: DOID:1894 ! noninfectious dermatoses of eyelid is_a: DOID:9006779 ! Discoid Lupus Erythematosus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9080 name: macroglobulinemia synonym: "EFO:0002616" EXACT [] synonym: "primary macroglobulinemia" EXACT [] xref: EFO:0002616 is_a: DOID:2345 ! plasma protein metabolism disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:9087 name: anal carcinoma in situ def: "An in situ carcinoma that is located_in the anus. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2780101/ "DO"] synonym: "anal carcinoma stage 0" EXACT [] synonym: "anal intraepithelial neoplasia grade III" EXACT [] synonym: "carcinoma in situ of anal canal" EXACT [] synonym: "carcinoma in situ of anus" EXACT [] xref: ICD9CM:230.6 xref: NCI:C157575 is_a: DOID:4908 ! anal carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9088 name: parapsoriasis def: "The term applied to a group of relatively uncommon inflammatory, maculopapular, scaly eruptions of unknown etiology and resistant to conventional treatment. Eruptions are both psoriatic and lichenoid in appearance, but the diseases are distinct from psoriasis, lichen planus, or other recognized dermatoses. Proposed nomenclature divides parapsoriasis into two distinct subgroups, PITYRIASIS LICHENOIDES and parapsoriasis en plaques (small- and large-plaque parapsoriasis)." [MESH:D010267] synonym: "digitate dermatoses" EXACT [] synonym: "Digitate Dermatosis" EXACT [] synonym: "Maculopapular Erythroderma" EXACT [] synonym: "Maculopapular Erythrodermas" EXACT [] synonym: "Parakeratosis Variegata" EXACT [] synonym: "Parapsoriases" EXACT [] synonym: "Parapsoriasis en Plaque" EXACT [] synonym: "parapsoriasis en plaques" EXACT [] xref: EFO:1000747 xref: GARD:7328 xref: ICD10CM:L41 xref: ICD10CM:L41.9 xref: ICD9CM:696.2 xref: MESH:D010267 xref: NCI:C3312 is_a: DOID:8893 ! psoriasis is_a: DOID:9008246 ! Papulosquamous Skin Diseases [Term] id: DOID:9091 name: REM sleep behavior disorder def: "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement. (DO)" [http://en.wikipedia.org/wiki/Rapid_eye_movement_behavior_disorder "DO"] synonym: "rapid eye movement sleep behavior disorder" EXACT [] synonym: "Rapid eye movement sleep behaviour disorder" EXACT [] synonym: "REM Behavior Disorder" EXACT [] synonym: "REM behavior disorders" EXACT [] synonym: "REM sleep behaviour disorder" EXACT [] xref: EFO:0007462 xref: ICD10CM:G47.52 xref: ICD9CM:327.42 xref: MESH:D020187 is_a: DOID:9000475 ! REM Sleep Parasomnias [Term] id: DOID:9095 name: esophagus carcinoma in situ def: "An in situ carcinoma that is located_in the esophagus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6988210 "DO"] synonym: "carcinoma in situ of esophagus" EXACT [] synonym: "carcinoma in situ of oesophagus" EXACT [] synonym: "oesophagus carcinoma in situ" EXACT [] synonym: "severe esophageal dysplasia" EXACT [] synonym: "stage 0 carcinoma of the esophagus" EXACT [] synonym: "stage 0 carcinoma of the oesophagus" EXACT [] xref: ICD10CM:D00.1 xref: ICD9CM:230.1 is_a: DOID:1107 ! esophageal carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9097 name: erythematosquamous dermatosis synonym: "Other erythematosquamous dermatosis" EXACT [] xref: EFO:1000695 xref: ICD9CM:690 xref: NCI:C34591 is_a: DOID:37 ! skin disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:9098 name: sebaceous gland disease def: "A skin disease that is located_in the sebaceous gland. (DO)" [http://en.wikipedia.org/wiki/Sebaceous_gland#Clinical_significance "DO", https://www.ncbi.nlm.nih.gov/pubmed/18837699 "DO"] synonym: "sebaceous gland diseases" EXACT [] xref: EFO:1000763 xref: ICD10CM:L70.8 xref: ICD9CM:706.1 xref: MESH:D012625 is_a: DOID:37 ! skin disease [Term] id: DOID:910 name: occipital lobe neoplasm synonym: "malignant neoplasm of occipital lobe" EXACT [] synonym: "neoplasm of occipital lobe" EXACT [] synonym: "tumor of occipital lobe" EXACT [] xref: ICD10CM:C71.4 xref: ICD9CM:191.4 xref: NCI:C5574 is_a: DOID:368 ! cerebrum cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:9108 name: uterus carcinoma in situ def: "An in situ carcinoma that is located_in the uterus. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/25423715 "DO"] xref: ICD9CM:233.2 xref: MONDO:0004710 is_a: DOID:8719 ! in situ carcinoma is_a: DOID:9008198 ! uterine carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9111 name: cutaneous leishmaniasis def: "A leishmaniasis that involves skin infection caused by Leishmania species, resulting in one or more cutaneous lesions. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm "DO"] synonym: "American Leishmaniasis" EXACT [] synonym: "Asian desert cutaneous leishmaniasis" EXACT [] synonym: "Cutaneous Leishmaniases" EXACT [] synonym: "leproid leishmaniasis" EXACT [] synonym: "New World Leishmaniasis" EXACT [] synonym: "Old World Leishmaniasis" EXACT [] synonym: "Oriental Sore" EXACT [] xref: EFO:0005046 xref: ICD10CM:B55.1 xref: MESH:D016773 xref: NCI:C34768 is_a: DOID:9065 ! leishmaniasis [Term] id: DOID:9113 name: granuloma inguinale def: "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers. (DO)" [http://en.wikipedia.org/wiki/Granuloma_inguinale "DO"] synonym: "Donovanosis" EXACT [] synonym: "Granuloma Venereum" EXACT [] synonym: "pudendal ulcer" EXACT [] xref: EFO:0007291 xref: GARD:9532 xref: ICD10CM:A58 xref: ICD9CM:099.2 xref: MESH:D006100 xref: NCI:C3065 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9003491 ! Enterobacteriaceae Infections is_a: DOID:9006980 ! Bacterial Sexually Transmitted Diseases [Term] id: DOID:9119 name: acute myeloid leukemia alt_id: MIM:601626 def: "A myeloid leukemia that is characterized by the rapid growth of abnormal white blood cells that accumulate in the bone marrow and interfere with the production of normal blood cells. (DO)" [http://cancergenome.nih.gov/cancersselected/acutemyeloidleukemia "DO", http://en.wikipedia.org/wiki/Acute_myeloid_leukemia "DO", http://www.cancer.gov/dictionary?cdrid=44363 "DO", https://www.cancer.org/cancer/acute-myeloid-leukemia/detection-diagnosis-staging/how-classified.html "DO"] synonym: "acute myeloblastic leukaemia" EXACT [] synonym: "acute myeloblastic leukemia" EXACT [] synonym: "acute myeloblastic leukemias" EXACT [] synonym: "Acute Myelocytic Leukemia" EXACT [] synonym: "Acute Myelocytic Leukemias" EXACT [] synonym: "acute myelogenous leukaemia" EXACT [] synonym: "Acute Myelogenous Leukemia" EXACT [] synonym: "Acute Myelogenous Leukemias" EXACT [] synonym: "acute myeloid leukaemia" EXACT [] synonym: "acute myeloid leukemia, m0 subtype" EXACT [] synonym: "acute myeloid leukemia, M1" EXACT [] synonym: "acute myeloid leukemia, M2" EXACT [] synonym: "acute myeloid leukemia, reduced survival in" RELATED [] synonym: "acute myeloid leukemia, reduced survival in, somatic" RELATED [] synonym: "Acute Myeloid Leukemias" EXACT [] synonym: "Acute myeloid leukemia, somatic" NARROW [] synonym: "acute myeloid leukemia, susceptibility to" RELATED [] synonym: "Acute Myeloid Leukemia with Maturation" NARROW [] synonym: "Acute Myeloid Leukemia without Maturation" NARROW [] synonym: "Acute Nonlymphoblastic Leukemia" EXACT [] synonym: "Acute Nonlymphoblastic Leukemias" EXACT [] synonym: "Acute Nonlymphocytic Leukemia" EXACT [] synonym: "acute nonlymphocytic leukemias" EXACT [] synonym: "adult acute myeloid leukemia" NARROW [] synonym: "AML" EXACT [] synonym: "AML - acute myeloid leukemia" EXACT [] synonym: "ANLL" EXACT [] synonym: "EFO:0000222" EXACT [] synonym: "ETV6-RELATED CONDITION" BROAD [] synonym: "INHERITED ACUTE MYELOID LEUKEMIA" NARROW [] xref: EFO:0000222 xref: EFO:1001934 xref: GARD:12757 xref: ICD10CM:C92.0 xref: ICD9CM:205.0 xref: MESH:D015470 xref: NCI:C27753 xref: NCI:C3171 is_a: DOID:8692 ! myeloid leukemia [Term] id: DOID:9120 name: amyloidosis def: "A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition. (DO)" [https://en.wikipedia.org/wiki/Amyloidosis "DO", https://pubmed.ncbi.nlm.nih.gov/33100054/ "DO", https://pubmed.ncbi.nlm.nih.gov/33787033/ "DO", https://www.tandfonline.com/doi/pdf/10.1080/13506129.2020.1835263?needAccess=true "DO"] synonym: "amyloid disease" EXACT [] synonym: "amyloidoses" EXACT [] synonym: "SERUM AMYLOID A VARIANT" RELATED [] xref: EFO:1001875 xref: ICD10CM:E85 xref: ICD9CM:277.3 xref: MESH:D000686 xref: NCI:C2868 is_a: DOID:9000842 ! Proteostasis Deficiencies [Term] id: DOID:9123 name: eczema herpeticum def: "A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3520662/ "DO"] synonym: "eczema vaccinatum" EXACT [] synonym: "herpes simplex dermatitis" EXACT [] synonym: "herpes simplex dermatitis of eyelid" EXACT [] synonym: "herpes simplex eyelid dermatitis" EXACT [] synonym: "herpes simplex virus dermatitis" EXACT [] synonym: "herpes simplex virus eyelid dermatitis" EXACT [] synonym: "Kaposi's Varicelliform Eruption" EXACT [] synonym: "Kaposis Varicelliform Eruption" EXACT [] synonym: "Kaposi varicelliform eruption" EXACT [] xref: ICD10CM:B00.0 xref: ICD9CM:054.0 xref: ICD9CM:054.41 xref: MESH:D007617 xref: NCI:C35620 is_a: DOID:8566 ! herpes simplex is_a: DOID:9004383 ! Eczematous Skin Diseases [Term] id: DOID:9125 name: lower gum cancer synonym: "malignant tumor of lower gingiva" EXACT [] synonym: "malignant tumour of lower gum" EXACT [] xref: ICD10CM:C03.1 xref: ICD9CM:143.1 is_a: DOID:8602 ! gum cancer [Term] id: DOID:913 name: atrophic muscular disease def: "A neuromuscular disease that is characterized by an abnormal reduction in the muscle volume and atrophy. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C84574 "DO"] synonym: "atrophic muscular disorder" EXACT [] synonym: "atrophic muscular disorders" EXACT [] synonym: "distal lower limb amyotrophy" NARROW [] synonym: "disuse atrophies" EXACT [] synonym: "disuse atrophy" EXACT [] synonym: "spinobulbar atrophies" EXACT [] synonym: "spinobulbar atrophy" EXACT [] synonym: "spinopontine atrophies" EXACT [] synonym: "spinopontine atrophy" EXACT [] xref: EFO:0009912 xref: MESH:D020966 xref: NCI:C84574 is_a: DOID:66 ! muscle tissue disease [Term] id: DOID:9132 name: liver carcinoma in situ def: "An in situ carcinoma that is located_in the liver. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/1657755 "DO"] synonym: "carcinoma in situ of liver and biliary system" EXACT [] synonym: "carcinoma in situ of liver, gallbladder and bile ducts" EXACT [] xref: ICD10CM:D01.5 xref: ICD9CM:230.8 is_a: DOID:686 ! liver carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9138 name: stomach carcinoma in situ def: "An in situ carcinoma that is located_in the stomach. (DO)" [https://www.cancer.gov/types/stomach/patient/stomach-treatment-pdq "DO"] synonym: "carcinoma in situ of stomach" EXACT [] synonym: "gastric carcinoma in situ" EXACT [] xref: ICD10CM:D00.2 xref: ICD9CM:230.2 is_a: DOID:5517 ! stomach carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:914 name: peliosis hepatis def: "A vascular disease of the LIVER characterized by the occurrence of multiple blood-filled CYSTS or cavities. The cysts are lined with ENDOTHELIAL CELLS; the cavities lined with hepatic parenchymal cells (HEPATOCYTES). Peliosis hepatis has been associated with use of anabolic steroids (ANABOLIC AGENTS) and certain drugs." [MESH:D010382] synonym: "hepatic peliosis" EXACT [] xref: EFO:1001387 xref: ICD10CM:K76.4 xref: MESH:D010382 is_a: DOID:272 ! hepatic vascular disease [Term] id: DOID:9140 name: xeroderma of eyelid xref: ICD10CM:H01.14 xref: ICD9CM:373.33 xref: RDO:9003505 is_a: DOID:1697 ! ichthyosis is_a: DOID:1894 ! noninfectious dermatoses of eyelid created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9146 name: visceral leishmaniasis def: "A leishmaniasis that is the most severe form of the disease caused by protozoan parasites of the Leishmania genus, resulting in the infection of the internal organs such as liver, spleen and bone marrow. The symptoms include fever, weight loss, and an enlarged spleen and liver. (DO)" [http://en.wikipedia.org/wiki/Visceral_leishmaniasis "DO", http://www.dpd.cdc.gov/dpdx/HTML/Leishmaniasis.htm "DO"] synonym: "black fever" EXACT [] synonym: "infection by visceral leishmaniasis" EXACT [] synonym: "kala azar" EXACT [] synonym: "kala azar, susceptibility to, 1" RELATED [] synonym: "kala azar, susceptibility to, 2" RELATED [] synonym: "kala azar, susceptibility to, 3" RELATED [] synonym: "KAZA1" RELATED [] synonym: "KAZA2" RELATED [] synonym: "KAZA3" RELATED [] synonym: "visceral leishmaniasis, susceptibility to, 1" RELATED [] synonym: "visceral leishmaniasis, susceptibility to, 3" RELATED [] xref: EFO:0005045 xref: ICD10CM:B55.0 xref: ICD9CM:085.0 xref: MESH:D007898 xref: MIM:608207 xref: MIM:611381 xref: MIM:611382 xref: MIM:PS608207 xref: MONDO:0005445 xref: NCI:C34771 is_a: DOID:0080001 ! bone disease is_a: DOID:2529 ! splenic disease is_a: DOID:409 ! liver disease is_a: DOID:9065 ! leishmaniasis [Term] id: DOID:9149 name: hard palate cancer synonym: "malignant neoplasm of hard palate" EXACT [] synonym: "malignant tumor of hard palate" EXACT [] synonym: "malignant tumour of hard palate" EXACT [] xref: ICD10CM:C05.0 xref: ICD9CM:145.2 xref: NCI:C3528 is_a: DOID:8618 ! oral cavity cancer is_a: DOID:9005313 ! Palatal Neoplasms [Term] id: DOID:9153 name: variola minor def: "A smallpox that results_in milder infection, located_in skin, has_material_basis_in Variola virus. The infection results_in_formation_of lesions. (DO)" [https://www.fda.gov/vaccines-blood-biologics/vaccines/smallpox "DO"] synonym: "alastrim" EXACT [] synonym: "cottonpox" EXACT [] synonym: "milkpox" EXACT [] synonym: "variola minors" EXACT [] synonym: "whitepox" EXACT [] xref: ICD9CM:050.1 xref: NCI:C34365 is_a: DOID:8736 ! smallpox created_by: rgd creation_date: 2017-10-11T00:00:00Z [Term] id: DOID:9155 name: mucocutaneous leishmaniasis alt_id: MIM:602068 def: "A leishmaniasis that involves a chronic inflammatory process involving the nasal, pharyngeal, and laryngeal mucosa, which can lead to extensive tissue destruction, caused by protozoan parasites belonging to the genus Leishmania. The infection is characterized by granulomatous lesion which can destroy upper respiratory tract mucosa. (DO)" [http://www.bmj.com/cgi/content/full/329/7470/842 "DO"] synonym: "cutaneous leishmaniasis, American" EXACT [] synonym: "Mucocutaneous Leishmaniases" EXACT [] synonym: "mucocutaneous leishmaniasis, American" EXACT [] synonym: "New World cutaneous leishmaniasis" EXACT [] xref: EFO:0007379 xref: ICD10CM:B55.2 xref: ICD9CM:085.5 xref: MESH:D007897 is_a: DOID:9111 ! cutaneous leishmaniasis is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:9159 name: gas gangrene def: "A commensal bacterial infectious disease that results in infection, located in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has symptom large blisters, has symptom pain in the infected area, has symptom myonecrosis, has symptom gas production, and has symptom sepsis. (DO)" [http://en.wikipedia.org/wiki/Gas_gangrene "DO", http://www.merckmanuals.com/home/sec17/ch190/ch190g.html#sec17-ch190-ch190g-157 "DO"] synonym: "gas bacillus infection" EXACT [] synonym: "gas gangrenes" EXACT [] synonym: "myonecrosis" EXACT [] xref: EFO:0007279 xref: ICD10CM:A48.0 xref: ICD9CM:040.0 xref: MESH:D005738 is_a: DOID:0050339 ! commensal bacterial infectious disease is_a: DOID:66 ! muscle tissue disease is_a: DOID:9006732 ! Clostridium Infections [Term] id: DOID:916 name: liver benign neoplasm def: "Tumors or cancer of the LIVER." [MESH:D008113] synonym: "epithelial hepatic and intrahepatic bile duct neoplasm" EXACT [] xref: EFO:1001513 xref: NCI:C7103 xref: NCI:C7106 is_a: DOID:0060089 ! endocrine organ benign neoplasm is_a: DOID:3117 ! hepatobiliary benign neoplasm is_a: DOID:9007188 ! Liver Neoplasms [Term] id: DOID:9164 name: achalasia def: "An esophageal disease that is characterized by an inability of the esophagus to move food toward the stomach resulting from the lower esophogeal sphincter not fully relaxing during swallowing. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/000267.htm "DO"] synonym: "achalasia of cardia" EXACT [] synonym: "achalasia of esophagus" EXACT [] synonym: "achalasias" EXACT [] synonym: "cardiospasm" EXACT [] synonym: "cardiospasms" EXACT [] synonym: "esophageal achalasia" EXACT [] synonym: "esophageal achalasias" EXACT [] synonym: "hypertensive lower esophageal sphincter" EXACT [] synonym: "lack of reflex relaxation of lower oesophageal sphincter" EXACT [] synonym: "megaesophagus" RELATED [] xref: ICD10CM:K22.0 xref: ICD9CM:530.0 xref: MESH:D004931 xref: MONDO:0008698 xref: NCI:C84699 is_a: DOID:9192 ! dyskinesia of esophagus [Term] id: DOID:9165 name: neurotic excoriation synonym: "dermatitis artefacta" EXACT [] synonym: "dermatitis factitia" EXACT [] synonym: "dermatitis ficta" EXACT [] synonym: "factitious skin disease" EXACT [] xref: EFO:1000741 xref: ICD10CM:L98.1 xref: ICD9CM:698.4 is_a: DOID:2723 ! dermatitis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:9169 name: Wiskott-Aldrich syndrome alt_id: MIM:301000 def: "A syndrome that is characterized by abnormal immune system function and a reduced ability to form blood clots resulting from a decrease in the number and size of blood cell fragments involved in clotting (microthrombocytopenia). (DO)" [https://ghr.nlm.nih.gov/condition/wiskott-aldrich-syndrome "DO"] synonym: "Aldrich Syndrome" EXACT [] synonym: "eczema-thrombocytopenia-immunodeficiency syndrome" EXACT [] synonym: "eczema-thrombocytopenia-immunodeficiency syndromes" EXACT [] synonym: "IMD2" EXACT [] synonym: "immunodeficiency 2" EXACT [] synonym: "WAS" EXACT [] synonym: "WAS1" EXACT [] synonym: "Wiskott-Aldrich syndrome 1" EXACT [] synonym: "Wiskott-Aldrich syndrome, attenuated" NARROW [] synonym: "Wiskott Syndrome" EXACT [] xref: EFO:0003903 xref: ICD10CM:D82.0 xref: ICD9CM:279.12 xref: MESH:D014923 xref: MONDO:0010518 xref: NCI:C3448 is_a: DOID:0080012 ! X-linked recessive disease is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:614 ! lymphopenia is_a: DOID:9002557 ! Inherited Blood Coagulation Disease [Term] id: DOID:917 name: liver leiomyoma synonym: "leiomyoma of the liver" EXACT [] xref: NCI:C5753 is_a: DOID:127 ! leiomyoma is_a: DOID:916 ! liver benign neoplasm created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9173 name: submandibular gland cancer synonym: "malignant neoplasm of submaxillary gland" EXACT [] synonym: "malignant tumor of submandibular gland" EXACT [SNOMEDCT_2005_07_31:363380002] synonym: "malignant tumor of the Submandibular gland" EXACT [NCI2004_11_17:C3526] synonym: "Submandibular Gland Adenocarcinoma" NARROW [] synonym: "Submandibular Gland Adenoid Cystic Carcinoma" NARROW [] xref: EFO:1000554 xref: EFO:1000555 xref: ICD10CM:C08.0 xref: ICD9CM:142.1 xref: NCI:C3526 xref: RDO:9004566 is_a: DOID:8850 ! salivary gland cancer is_a: DOID:9008501 ! Submandibular Gland Neoplasms created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:9174 name: rectum carcinoma in situ def: "An in situ carcinoma that is located_in the rectum. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/622667 "DO"] synonym: "carcinoma in situ of rectum" EXACT [SNOMEDCT_2005_07_31:92696009] synonym: "Severe dysplasia of rectum" EXACT [SNOMEDCT_2005_07_31:308879003] synonym: "Severe Rectal Dysplasia" EXACT [NCI2004_11_17:C4853] xref: ICD10CM:D01.2 xref: ICD9CM:230.4 xref: RDO:9003601 is_a: DOID:8719 ! in situ carcinoma is_a: DOID:9002533 ! Rectum Carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:918 name: liver inflammatory pseudotumor synonym: "Hepatic Inflammatory Myofibroblastic Tumor" EXACT [] synonym: "Inflammatory Pseudotumor of Liver" EXACT [] synonym: "inflammatory pseudotumor of the liver" EXACT [] synonym: "Liver Inflammatory Myofibroblastic Tumor" EXACT [] xref: EFO:1000324 xref: NCI:C5858 is_a: DOID:409 ! liver disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9181 name: amebiasis def: "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs. (DO)" [http://en.wikipedia.org/wiki/Amoebiasis "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000298.htm "DO"] synonym: "amebiases" EXACT [] synonym: "Amebic Abscess" EXACT [] synonym: "amebic abscesses" EXACT [] synonym: "Ameboma" EXACT [] synonym: "Amebomas" EXACT [] synonym: "amoebiases" EXACT [] synonym: "amoebiasis" EXACT [] synonym: "chronic intestinal amebiasis" RELATED [] synonym: "Iodamoebiases" EXACT [] synonym: "Iodamoebiasis" EXACT [] xref: EFO:0007144 xref: GARD:652 xref: ICD10CM:A06 xref: ICD9CM:006 xref: MESH:D000562 xref: NCI:C157785 xref: NCI:C84551 is_a: DOID:2789 ! parasitic protozoa infectious disease [Term] id: DOID:9182 name: pemphigus def: "An autoimmune disease of skin and connective tissue that is characterized by blistering of the outer layer of the skin and mucous membranes (mouth, nose, throat, eyes, and genitals), causing lesions and blisters that are easily ruptured. (DO)" [https://en.wikipedia.org/wiki/Pemphigus "DO", https://medlineplus.gov/pemphigus.html "DO", https://rarediseases.org/rare-diseases/pemphigus/ "DO"] synonym: "drug-induced pemphigus" NARROW [] synonym: "IgG/IgA pemphigus" NARROW [] synonym: "radiotherapy-induced pemphigus" NARROW [] xref: EFO:0008605 xref: EFO:0008607 xref: EFO:0008608 xref: EFO:1000749 xref: GARD:7352 xref: ICD10CM:L10 xref: ICD9CM:694.4 xref: MESH:D010392 xref: NCI:C34909 xref: ORDO:79481 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:8502 ! bullous skin disease [Term] id: DOID:9188 name: vestibule of mouth cancer synonym: "malignant neoplasm of vestibule of mouth" EXACT [] synonym: "malignant tumor of vestibule of mouth" EXACT [] xref: ICD10CM:C06.1 xref: ICD9CM:145.1 is_a: DOID:8618 ! oral cavity cancer created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:9191 name: diabetic macular edema xref: EFO:0009321 xref: ICD9CM:362.07 is_a: DOID:4449 ! macular retinal edema is_a: DOID:8947 ! diabetic retinopathy is_a: DOID:9003638 ! diabetic maculopathy created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9192 name: dyskinesia of esophagus def: "Disorders affecting the motor function of the UPPER ESOPHAGEAL SPHINCTER; LOWER ESOPHAGEAL SPHINCTER; the ESOPHAGUS body, or a combination of these parts. The failure of the sphincters to maintain a tonic pressure may result in gastric reflux of food and acid into the esophagus (GASTROESOPHAGEAL REFLUX). Other disorders include hypermotility (spastic disorders) and markedly increased amplitude in contraction (nutcracker esophagus)." [MESH:D015154] synonym: "dyskinesia of oesophagus" EXACT [] synonym: "Esophageal Dysmotilities" EXACT [] synonym: "Esophageal Dysmotility" EXACT [] synonym: "Esophageal Motility Disorder" EXACT [] synonym: "Esophageal Motility Disorders" EXACT [] synonym: "Nutcracker Esophagus" EXACT [] synonym: "oesophageal dysmotility" EXACT [] synonym: "oesophageal motor disorder" EXACT [] xref: ICD10CM:K22.4 xref: ICD9CM:530.5 xref: MESH:D015154 is_a: DOID:6050 ! esophageal disease is_a: DOID:9000123 ! Deglutition Disorders is_a: DOID:9000924 ! Gastrointestinal Motility Disorders [Term] id: DOID:92 name: speech disorder def: "A communication disorder that involves difficulty with the act of speech production. (DO)" [http://en.wikipedia.org/wiki/Speech_disorders "DO"] synonym: "Aprosodia" EXACT [] synonym: "aprosodias" EXACT [] synonym: "Aprosodic Speech" EXACT [] synonym: "Cluttering" EXACT [] synonym: "clutterings" EXACT [] synonym: "Dysglossia" EXACT [] synonym: "Dysglossias" EXACT [] synonym: "Dyslalia" EXACT [] synonym: "Dyslalias" EXACT [] synonym: "Rhinolalia" EXACT [] synonym: "Rhinolalias" EXACT [] synonym: "speech disorders" EXACT [] synonym: "verbal fluency disorder" EXACT [] synonym: "verbal fluency disorders" EXACT [] xref: MESH:D013064 xref: NCI:C5041 is_a: DOID:2033 ! communication disorder is_a: DOID:93 ! language disorder [Term] id: DOID:9201 name: lichen planus def: "A lichen disease that is located_in skin, located_in tongue or located_in oral mucosa, which presents itself in the form of papules, lesions or rashes. (DO)" [http://en.wikipedia.org/wiki/Lichen_planus "DO"] synonym: "lichen ruber planus" EXACT [] synonym: "lichen rubra planus" EXACT [] xref: EFO:1000726 xref: GARD:12344 xref: ICD10CM:L43 xref: ICD9CM:697.0 xref: MESH:D008010 xref: NCI:C3189 is_a: DOID:8574 ! lichen disease [Term] id: DOID:9206 name: Barrett's esophagus alt_id: MIM:614266 def: "An esophageal disease characterized by a change of normal esophageal squamous epithelium to a columnar and intestinal-type epithelium. (DO)" [https://pubmed.ncbi.nlm.nih.gov/21461873/ "DO"] synonym: "Barrett's esophagus with esophagitis" EXACT [] synonym: "Barrett's oesophagus" EXACT [] synonym: "Barrett's Syndrome" EXACT [] synonym: "Barrett's ulcer of esophagus" EXACT [] synonym: "Barrett epithelium" EXACT [] synonym: "Barrett esophagus" EXACT [] synonym: "BARRETT ESOPHAGUS/ESOPHAGEAL ADENOCARCINOMA" NARROW [] synonym: "Barrett metaplasia" EXACT [] synonym: "BARRETT METAPLASIA ADENOCARCINOMA OF ESOPHAGUS" NARROW [] synonym: "Barretts Esophagus" EXACT [] synonym: "Barretts syndrome" EXACT [] synonym: "Barrett syndrome" EXACT [] synonym: "ulcerative esophagitis" EXACT [] xref: EFO:0000280 xref: GARD:20 xref: ICD10CM:K22.7 xref: ICD9CM:530.85 xref: MESH:D001471 xref: NCI:C2891 is_a: DOID:6050 ! esophageal disease is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:9207 name: periodic limb movement disorder def: "A sleep disorder that involves involuntary limb movement during sleep. (DO)" [http://en.wikipedia.org/wiki/Periodic_limb_movement_disorder "DO"] synonym: "excessive periodic sleep related leg movements" EXACT [] synonym: "nocturnal myoclonus" EXACT [] synonym: "nocturnal myoclonus syndrome" EXACT [] synonym: "periodic movement disorder, sleep" EXACT [] synonym: "sleep disorder, periodic movements" EXACT [] synonym: "sleep myoclonus syndrome" EXACT [] xref: EFO:0007428 xref: ICD10CM:G47.61 xref: ICD9CM:327.51 xref: MESH:D020189 xref: MONDO:0005905 is_a: DOID:225 ! syndrome is_a: DOID:9000166 ! Intrinsic Sleep Disorders is_a: DOID:9004040 ! Parasomnias [Term] id: DOID:9210 name: herpes zoster oticus def: "A viral infectious disease that results_in inflammation located_in facial nerve, which leads to paralysis of one side of the face, has_material_basis_in Human herpesvirus 3, which reactivates after appearing as chickenpox in childhood. The infection has_symptom vesicular rash of the ear or mouth, has_symptom tinnitus, has_symptom vertigo, has_symptom otalgia, and has_symptom headache. (DO)" [https://rarediseases.info.nih.gov/diseases/7525/index "DO"] synonym: "auricular syndrome of Ramsay Hunt" EXACT [] synonym: "geniculate herpes zoster" EXACT [] synonym: "geniculate neuralgia" EXACT [] synonym: "geniculate neuralgias" EXACT [] synonym: "herpes zoster auricularis" EXACT [] synonym: "Herpes Zoster Cephalicus" EXACT [] synonym: "herpetic geniculate ganglionitides" EXACT [] synonym: "herpetic geniculate ganglionitis" EXACT [] synonym: "nervus intermedius neuralgia" EXACT [] synonym: "Ramsay Hunt auricular syndrome" EXACT [] synonym: "Ramsay Hunt syndrome" EXACT [] synonym: "Ramsay Hunt syndrome type 2" EXACT [] synonym: "Ramsay Hunt syndrome type II" EXACT [] synonym: "Ramsey Hunt syndrome" EXACT [] xref: EFO:0007281 xref: GARD:7525 xref: ICD10CM:B02.21 xref: ICD9CM:053.11 xref: MESH:D016697 xref: NCI:C84763 is_a: DOID:1756 ! facial nerve disease is_a: DOID:225 ! syndrome is_a: DOID:2742 ! auditory system disease is_a: DOID:4953 ! poliomyelitis is_a: DOID:8536 ! herpes zoster [Term] id: DOID:9212 name: pityriasis rubra pilaris alt_id: MIM:173200 def: "A skin disease that is characterized by hyperkeratotic follicular papules coalescing into orange-red scaly plaques, islands of sparing, and palmoplantar keratoderma. (DO)" [https://pubmed.ncbi.nlm.nih.gov/29302927/ "DO"] synonym: "Devergie's disease" EXACT [] synonym: "papulosquamous eruptions" NARROW [] synonym: "PRP" EXACT [] xref: GARD:7401 xref: ICD10CM:L44.0 xref: ICD9CM:696.4 xref: MESH:D010916 xref: NCI:C85014 is_a: DOID:9007287 ! Pityriasis [Term] id: DOID:9220 name: central sleep apnea alt_id: MIM:107640 alt_id: MIM:207720 def: "A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. (DO)" [http://en.wikipedia.org/wiki/Central_sleep_apnea "DO", http://www.mayoclinic.org/diseases-conditions/sleep-apnea/basics/definition/con-20020286 "DO", http://www.nhlbi.nih.gov/health/health-topics/topics/sleepapnea/ "DO"] synonym: "central alveolar hypoventilation" EXACT [] synonym: "central alveolar hypoventilations" EXACT [] synonym: "Central Alveolar Hypoventilation Syndrome" EXACT [] synonym: "Central Apnea" EXACT [] synonym: "central apneas" EXACT [] synonym: "Central Sleep Apneas" EXACT [] synonym: "Central Sleep Apnea Syndrome" EXACT [] synonym: "Central Sleep Disordered Breathing" EXACT [] synonym: "Central Sleep-Disordered Breathings" EXACT [] synonym: "lethal central sleep apnea" EXACT [] synonym: "Newborn Primary Sleep Apneas" EXACT [] synonym: "newborn sleep apnea, primary" EXACT [] synonym: "Ondine Syndrome" EXACT [] synonym: "Primary Central Sleep Apnea" EXACT [] synonym: "Primary Sleep Apneas of Newborn" EXACT [] synonym: "secondary central sleep apnea" EXACT [] xref: MESH:D020182 xref: NCI:C116046 is_a: DOID:0050847 ! sleep apnea [Term] id: DOID:9230 name: pompholyx def: "A sweat gland disease that is characterized by recurrent vesicles and bullae that develop particularly upon the lateral palms, soles, and fingers and has_symptom pruritis and cracked skin. (DO)" [https://jamanetwork.com/journals/jamadermatology/fullarticle/654498 "DO"] synonym: "cheiropompholyx" EXACT [] synonym: "dyshidrosis" EXACT [] synonym: "dyshidrotic eczema" EXACT [] synonym: "Dyshidrotic Eczemas" EXACT [] synonym: "Dyshydrotic Eczema" EXACT [] synonym: "Dyshydrotic Eczemas" EXACT [] synonym: "vesicular eczema of hands and/or feet" EXACT [] synonym: "Vesicular Palmoplantar Eczema" EXACT [] synonym: "Vesicular Palmoplantar Eczemas" EXACT [] xref: EFO:1000688 xref: ICD9CM:705.81 xref: MESH:D011146 is_a: DOID:1383 ! sweat gland disease is_a: DOID:2731 ! vesiculobullous skin disease is_a: DOID:9007356 ! Eczema [Term] id: DOID:9234 name: kidney carcinoma in situ def: "An in situ carcinoma that is located_in the kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/4417875 "DO"] xref: ICD10CM:D09.1 xref: ICD9CM:233.9 is_a: DOID:4451 ! renal carcinoma is_a: DOID:8719 ! in situ carcinoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9235 name: pyriform sinus cancer synonym: "malignant neoplasm of pyriform fossa" EXACT [] synonym: "malignant neoplasm of the pyriform fossa" EXACT [] synonym: "malignant tumor of pyriform fossa" EXACT [] xref: ICD10CM:C12 xref: ICD9CM:148.1 xref: NCI:C3531 is_a: DOID:8533 ! hypopharynx cancer created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:9240 name: erythromelalgia alt_id: MIM:133020 def: "A neuropathy that is characterized by intense, burning pain of affected extremities, severe redness and increased skin temperature. (DO)" [https://en.wikipedia.org/wiki/Erythromelalgia "DO", https://ghr.nlm.nih.gov/condition/erythromelalgia "DO", https://rarediseases.org/rare-diseases/erythromelalgia/ "DO"] synonym: "acute episodes of neuropathic symptoms" NARROW [] synonym: "Erythermalgia" EXACT [] synonym: "erythermalgias" EXACT [] synonym: "ERYTHROMELALGIA, FAMILIAL NEUROPATHY, SMALL FIBER" NARROW [] synonym: "erythromelalgias" EXACT [] synonym: "Familial Erythromelalgia" NARROW [] synonym: "INHERITED ERYTHROMELALGIA" NARROW [] synonym: "Primary Erythermalgia" NARROW [] synonym: "primary erythermalgias" NARROW [] synonym: "primary erythromelalgia" NARROW [] synonym: "SFNP" NARROW [] synonym: "sodium channelopathy-related small fiber neuropathy" NARROW [] xref: GARD:6377 xref: ICD10CM:I73.81 xref: ICD9CM:443.82 xref: MESH:D004916 xref: NCI:C125383 xref: NCI:C34593 is_a: DOID:341 ! peripheral vascular disease is_a: DOID:870 ! neuropathy [Term] id: DOID:9245 name: Alagille syndrome def: "A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. (DO)" [https://research.nhgri.nih.gov/atlas/condition/alagille-syndrome "DO", https://www.niddk.nih.gov/health-information/liver-disease/alagille-syndrome/definition-facts "DO"] synonym: "AHD" EXACT [] synonym: "Alagille's syndrome" EXACT [] synonym: "Alagilles syndrome" EXACT [] synonym: "Alagille Watson Syndrome" EXACT [] synonym: "ALGS" EXACT [] synonym: "Arteriohepatic Dysplasia" EXACT [] synonym: "Arteriohepatic Dysplasia (AHD)" EXACT [] synonym: "AWS" EXACT [] synonym: "Cardiovertebral Syndrome" EXACT [] synonym: "Cholestasis with Peripheral Pulmonary Stenosis" EXACT [] synonym: "Hepatic Ductular Hypoplasia" EXACT [] synonym: "Hepatic Ductular Hypoplasia, Syndromatic" EXACT [] synonym: "hepatofacioneurocardiovertebral syndrome" EXACT [] synonym: "paucity of interlobular bile ducts" EXACT [] synonym: "Watson-Miller syndrome" EXACT [] xref: EFO:0004151 xref: GARD:804 xref: ICD10CM:Q44.7 xref: MESH:D016738 xref: MIM:PS118450 xref: MONDO:0007318 xref: NCI:C35139 xref: ORDO:52 is_a: DOID:1682 ! congenital heart disease is_a: DOID:1852 ! intrahepatic cholestasis is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9246 name: cerebral amyloid angiopathy def: "An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia. (DO)" [http://en.wikipedia.org/wiki/Cerebral_amyloid_angiopathy "DO"] synonym: "cerebral amyloid angiopathies" EXACT [] synonym: "congophilic angiopathies" EXACT [] synonym: "Congophilic Angiopathy" EXACT [] synonym: "Dutch hereditary cerebral amyloid angiopathy" EXACT [] synonym: "hereditary cerebral haemorrhage with amyloidosis - Dutch type" EXACT [] synonym: "sporadic cerebral amyloid angiopathy" EXACT [] xref: EFO:0006790 xref: MESH:D016657 xref: ORDO:85458 is_a: DOID:3527 ! cerebral arterial disease is_a: DOID:655 ! inherited metabolic disorder is_a: DOID:9120 ! amyloidosis [Term] id: DOID:9248 name: Pallister-Hall syndrome alt_id: MIM:146510 def: "A syndrome that is characterized by hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations and has_material_basis_in autosomal dominant heterozygous mutation in the GLI3 gene on chromosome 7p14. (DO)" [https://pubmed.ncbi.nlm.nih.gov/31011455/ "DO", https://pubmed.ncbi.nlm.nih.gov/8914745/ "DO", https://research.nhgri.nih.gov/atlas/condition/pallister-hall-syndrome "DO"] synonym: "CAVE complex" EXACT [] synonym: "Cerebroacrovisceral Early Lethality Complex" EXACT [] synonym: "Hypothalamic Hamartoblastoma, Hypopituitarism, Imperforate Anus, and Postaxial Polydactyly" EXACT [] synonym: "Hypothalamic Hamartoblastoma Syndrome" EXACT [] synonym: "hypothalamic hamartoblastoma syndromes" EXACT [] synonym: "PHS" EXACT [] xref: GARD:7305 xref: MESH:D054975 xref: NCI:C84987 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:1148 ! polydactyly is_a: DOID:225 ! syndrome is_a: DOID:3644 ! hypothalamic neoplasm is_a: DOID:9007253 ! Hamartoma is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9249 name: Beemer-Langer syndrome alt_id: MIM:269860 def: "A syndrome that results_in multiple congenital anomalies, including hydrops fetalis, facial and visceral abnormalities, short ribs, and short limbs without polydactyly. (DO)" [http://en.wikipedia.org/wiki/Short_rib_%E2%80%93_polydactyly_syndrome "DO", http://www.springerlink.com/content/e0hmfh4fcl7m4kjw/ "DO"] synonym: "short rib-polydactyly syndrome, Beemer type" EXACT [] synonym: "short rib-polydactyly syndrome, type 4" EXACT [] synonym: "short rib-polydactyly syndrome, type IV" EXACT [] synonym: "short rib syndrome, Beemer type" EXACT [] synonym: "short-rib thoracic dysplasia 12" EXACT [] synonym: "SRPS IV" EXACT [] synonym: "SRPS, type 4" EXACT [] synonym: "SRTD12" EXACT [] xref: MESH:C537599 is_a: DOID:0050592 ! asphyxiating thoracic dystrophy is_a: DOID:225 ! syndrome [Term] id: DOID:9250 name: acrocallosal syndrome alt_id: MESH:C538177 alt_id: MIM:200990 def: "A syndrome that is an autosomal recessive disorder, which is characterized by corpus callosum agenesis, polydactyly, multiple dysmorphic features, motor and mental retardation. (DO)" [http://en.wikipedia.org/wiki/Acrocallosal_syndrome "DO"] synonym: "ACLS" EXACT [] synonym: "Acrocallosal syndromes" EXACT [] synonym: "acrocallosal syndrome, Schinzel type" EXACT [] synonym: "hallux duplication, postaxial polydactyly, and absence of corpus callosum" EXACT [] synonym: "Joubert syndrome 12/15, digenic" NARROW [] synonym: "SCHINZEL ACROCALLOSAL SYNDROME" EXACT [] synonym: "SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12" NARROW [] synonym: "Schinzel syndrome 1" EXACT [] xref: GARD:5721 xref: MESH:D055673 xref: NCI:C84531 is_a: DOID:0080578 ! digenic disease is_a: DOID:225 ! syndrome is_a: DOID:9001999 ! Agenesis of Corpus Callosum [Term] id: DOID:9252 name: amino acid metabolic disorder def: "An inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids. (DO)" [http://en.wikipedia.org/wiki/Inborn_errors_of_amino_acid_metabolism "DO"] synonym: "Amino Acid Metabolism, Inborn Error" EXACT [] synonym: "amino acid metabolism, inborn errors" EXACT [] synonym: "Amino Acid Metabolism, Inherited Disorders" EXACT [] synonym: "Congenital Amino Acidopathies" EXACT [] synonym: "Congenital Amino Acidopathy" EXACT [] synonym: "inborn amino acid metabolism disorders" EXACT [] synonym: "Inborn Amino Acidopathies" EXACT [] synonym: "inborn amino acidopathy" EXACT [] synonym: "inborn errors of amino acid metabolism" EXACT [] synonym: "inherited errors of amino acid metabolism" EXACT [] xref: GARD:5793 xref: ICD10CM:E72.9 xref: ICD9CM:270 xref: MESH:D000592 xref: NCI:C97090 is_a: DOID:655 ! inherited metabolic disorder [Term] id: DOID:9253 name: gastrointestinal stromal tumor alt_id: MIM:606764 alt_id: OMIA:001516 def: "All tumors in the GASTROINTESTINAL TRACT arising from mesenchymal cells (MESODERM) except those of smooth muscle cells (LEIOMYOMA) or Schwann cells (SCHWANNOMA)." [MESH:D046152] synonym: "Colorectal Gastrointestinal Stromal Tumor" NARROW [] synonym: "GANT" EXACT [] synonym: "Gastrointestinal Stromal Neoplasm" EXACT [] synonym: "gastrointestinal stromal neoplasms" EXACT [] synonym: "Gastrointestinal Stromal Sarcoma" EXACT [] synonym: "Gastrointestinal stromal tumor, familial" NARROW [] synonym: "GASTROINTESTINAL STROMAL TUMOR OF SMALL INTESTINE" NARROW [] synonym: "gastrointestinal stromal tumors" EXACT [] synonym: "GASTROINTESTINAL STROMAL TUMOR, SOMATIC" NARROW [] synonym: "gastrointestinal stromal tumour" EXACT [] synonym: "GASTROINTESTINAL STROMA TUMOR" EXACT [] synonym: "GIST" EXACT [] synonym: "SMALL INTESTINAL GASTROINTESTINAL STROMAL TUMOR" NARROW [] synonym: "stromal tumor of gastrointestinal tract" EXACT [] synonym: "stromal tumour of gastrointestinal tract" EXACT [] xref: EFO:0000505 xref: EFO:1000192 xref: GARD:8598 xref: ICD10CM:C49.A xref: ICDO:8936/3 xref: MESH:D046152 xref: MONDO:0011719 xref: NCI:C158783 xref: NCI:C3868 is_a: DOID:3119 ! gastrointestinal system cancer is_a: DOID:9003944 ! Connective Tissue Neoplasms is_a: DOID:9006796 ! Gastrointestinal Neoplasms [Term] id: DOID:9254 name: mast-cell leukemia def: "A leukemia that results_in an overwhelming number of tissue mast cells located_in peripheral blood. (DO)" [http://medical-dictionary.thefreedictionary.com/mast+cell+leukemia "DO"] synonym: "EFO:0007359" EXACT [] synonym: "Mast-Cell Leukemias" EXACT [] xref: EFO:0007359 xref: ICD10CM:C94.3 xref: ICDO:9742/3 xref: MESH:D007946 xref: NCI:C3169 is_a: DOID:349 ! systemic mastocytosis is_a: DOID:3664 ! mast cell neoplasm is_a: DOID:9119 ! acute myeloid leukemia [Term] id: DOID:9255 name: frontotemporal dementia def: "A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language. (DO)" [http://en.wikipedia.org/wiki/Frontotemporal_dementia "DO", http://www.mayoclinic.org/diseases-conditions/frontotemporal-dementia/basics/definition/con-20023876 "DO", https://www.ncbi.nlm.nih.gov/pubmed/21121521 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/673/viewAbstract "DO"] synonym: "DDPAC" EXACT [] synonym: "disinhibition dementia parkinsonism amyotrophy complex" EXACT [] synonym: "Disinhibition Dementia Parkinsonism Amytrophy Complex" EXACT [] synonym: "Familial Pick's Disease" EXACT [] synonym: "Familial Pick Disease" EXACT [] synonym: "Familial Picks Disease" EXACT [] synonym: "FLDEM" EXACT [] synonym: "frontotemporal dementia 1" EXACT [] synonym: "frontotemporal dementias" EXACT [] synonym: "Frontotemporal Dementia with Parkinsonism" EXACT [] synonym: "Frontotemporal Dementia with Parkinsonism 17" EXACT [] synonym: "FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS" EXACT [] synonym: "Frontotemporal Lobe Dementia" EXACT [] synonym: "Frontotemporal Lobe Dementia (FLDEM)" EXACT [] synonym: "Frontotemporal Lobe Dementias" EXACT [] synonym: "Frontotemporal Lobe Dementias (FLDEM)" EXACT [] synonym: "FTD" EXACT [] synonym: "FTD1" EXACT [] synonym: "FTDP-17" EXACT [] synonym: "FTDP17" EXACT [] synonym: "FTLD-17 GRN" EXACT [] synonym: "FTLD-TDP" EXACT [] synonym: "FTLD WITH TAU INCLUSIONS" EXACT [] synonym: "HDDD1" EXACT [] synonym: "HDDD2" EXACT [] synonym: "MSTD" EXACT [] synonym: "multiple system tauopathy with presenile dementia" EXACT [] synonym: "PALLIDOPONTONIGRAL DEGENERATION" NARROW [] synonym: "PPND Pick complex" NARROW [] synonym: "semantic dementia" EXACT [] synonym: "semantic dementias" EXACT [] synonym: "Wilhelmsen Lynch disease" EXACT [] synonym: "Wilhemsen-Lynch disease" EXACT [] synonym: "WLD" EXACT [] xref: GARD:8436 xref: MESH:D057180 xref: MIM:600274 xref: MONDO:0017276 xref: NCI:C84719 xref: ORDO:282 is_a: DOID:679 ! basal ganglia disease is_a: DOID:9002031 ! Frontotemporal Lobar Degeneration [Term] id: DOID:9256 name: colorectal cancer alt_id: MIM:114500 alt_id: MIM:608812 alt_id: MIM:611469 alt_id: MIM:612229 alt_id: MIM:612230 alt_id: MIM:612231 alt_id: MIM:612232 alt_id: MIM:612589 alt_id: MIM:612590 alt_id: MIM:612592 alt_id: MIM:615083 def: "A large intestine cancer that is located_in the colon and/or located_in the rectum. (DO)" [http://www.cancer.gov/dictionary?CdrID=444983 "DO"] synonym: "AXIN2-RELATED DISORDER" BROAD [] synonym: "COLORECTAL ADENOMA AND CANCER, SUSCEPTIBILITY TO" RELATED [] synonym: "COLORECTAL CANCER 1" NARROW [] synonym: "Colorectal cancer, increased risk, assoc. with" RELATED [] synonym: "colorectal cancers" EXACT [] synonym: "colorectal cancer, susceptibility to" RELATED [] synonym: "colorectal cancer, susceptibility to, 1" RELATED [] synonym: "colorectal cancer, susceptibility to, 11" RELATED [] synonym: "colorectal cancer, susceptibility to, 12" RELATED [] synonym: "colorectal cancer, susceptibility to, 2" RELATED [] synonym: "colorectal cancer, susceptibility to, 3" RELATED [] synonym: "colorectal cancer, susceptibility to, 5" RELATED [] synonym: "colorectal cancer, susceptibility to, 6" RELATED [] synonym: "colorectal cancer, susceptibility to, 7" RELATED [] synonym: "colorectal cancer, susceptibility to, 8" RELATED [] synonym: "colorectal cancer, susceptibility to, 9" RELATED [] synonym: "colorectal cancer, susceptibility to, on chromosome 11" RELATED [] synonym: "colorectal cancer, susceptibility to, on chromosome 12q24" RELATED [] synonym: "colorectal cancer, susceptibility to, on chromosome 14q" RELATED [] synonym: "colorectal cancer, susceptibility to, on chromosome 16q" RELATED [] synonym: "colorectal cancer, susceptibility to, on chromosome 18" RELATED [] synonym: "colorectal cancer, susceptibility to, on chromosome 20p" RELATED [] synonym: "colorectal cancer, susceptibility to, on chromosome 8q23" RELATED [] synonym: "colorectal cancer, susceptibility to, on chromosome 8q24" RELATED [] synonym: "colorectal cancer, susceptibility to, on chromosome 9" RELATED [] synonym: "COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY" RELATED [] synonym: "COLORECTAL CANCER WITH CHROMOSOMAL INSTABILITY, SOMATIC" NARROW [] synonym: "CRC" EXACT [] synonym: "CRCS1" RELATED [] synonym: "CRCS11" RELATED [] synonym: "CRCS12" RELATED [] synonym: "CRCS2" RELATED [] synonym: "CRCS3" RELATED [] synonym: "CRCS5" RELATED [] synonym: "CRCS6" RELATED [] synonym: "CRCS7" RELATED [] synonym: "CRCS8" RELATED [] synonym: "CRCS9" RELATED [] synonym: "DLC1-RELATED CONDITION" NARROW [] synonym: "FAMILIAL COLORECTAL CANCER" NARROW [] synonym: "malignant colorectal neoplasm" EXACT [] xref: EFO:0005842 xref: ICD10CM:C18.9 xref: NCI:C2956 xref: NCI:C4978 is_a: DOID:5672 ! large intestine cancer is_a: DOID:9008443 ! Colorectal Neoplasms created_by: rgd creation_date: 2017-09-13T00:00:00Z [Term] id: DOID:9258 name: Waardenburg syndrome def: "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes. (DO)" [http://en.wikipedia.org/wiki/Waardenburg_syndrome "DO", http://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1 "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract "DO"] synonym: "Klein's syndrome" EXACT [] synonym: "Kleins syndrome" EXACT [] synonym: "Klein Syndrome" EXACT [] synonym: "van der Hoeve Halbertsona Waardenburg syndrome" EXACT [] synonym: "Waardenburg's syndrome" EXACT [] synonym: "Waardenburg Shah syndrome" EXACT [] synonym: "Waardenburgs syndrome" EXACT [] synonym: "Waardenburg, types I and/or II" NARROW [] synonym: "White Forelock (Poliosis) Syndrome with Multiple Congenital Malformations" EXACT [] xref: GARD:5525 xref: MESH:D014849 xref: MIM:PS193500 xref: NCI:C75008 xref: NCI:C85222 xref: ORDO:3440 xref: ORDO:895 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9261 name: nasopharynx carcinoma alt_id: MIM:161550 alt_id: MIM:617075 def: "A pharynx cancer that is located in the nasopharynx, the uppermost region of the pharynx or throat, where the nasal passages and auditory tubes join the remainder of the upper respiratory tract. (DO)" [http://en.wikipedia.org/wiki/Nasopharyngeal_carcinoma "DO"] synonym: "cancer of nasopharynx" EXACT [] synonym: "cancer of the nasopharynx" EXACT [] synonym: "carcinoma of nasopharynx" RELATED [] synonym: "malignant nasopharyngeal tumor" EXACT [] synonym: "malignant neoplasm of nasopharynx" EXACT [] synonym: "nasopharyngeal cancer" EXACT [] synonym: "nasopharyngeal cancers" EXACT [] synonym: "nasopharyngeal carcinoma" EXACT [] synonym: "nasopharyngeal carcinoma, susceptibility to, 1" RELATED [] synonym: "nasopharyngeal carcinoma, susceptibility to, 2" RELATED [] synonym: "nasopharyngeal carcinoma, susceptibility to, 3" RELATED [] synonym: "nasopharynx cancer" EXACT [] synonym: "NPC" EXACT [] synonym: "NPCA" EXACT [] synonym: "NPCA1" RELATED [] synonym: "NPCA2" RELATED [] synonym: "NPCA3" RELATED [] xref: GARD:7163 xref: ICD10CM:C11 xref: ICD10CM:C11.0 xref: ICD10CM:C11.1 xref: ICD10CM:C11.2 xref: ICD10CM:C11.3 xref: ICD9CM:147 xref: ICD9CM:147.0 xref: ICD9CM:147.1 xref: ICD9CM:147.2 xref: ICD9CM:147.3 xref: MIM:607107 xref: NCI:C3871 xref: NCI:C9321 xref: ORDO:150 is_a: DOID:0050615 ! respiratory system cancer is_a: DOID:0060119 ! pharynx cancer is_a: DOID:305 ! carcinoma is_a: DOID:9005207 ! Nasopharyngeal Neoplasms [Term] id: DOID:9263 name: homocystinuria alt_id: MIM:236200 def: "An amino acid metabolic disorder that involves an accumulation of homocysteine in the serum and an increased excretion of homocysteine in the urine. (DO)" [http://en.wikipedia.org/wiki/Homocystinuria "DO"] synonym: "CBS Deficiencies" EXACT [] synonym: "CBS Deficiency" EXACT [] synonym: "CBS Deficiency Hyperhomocysteinemia, Thrombotic, CBS-Related" NARROW [] synonym: "CBS-RELATED CONDITION" EXACT [] synonym: "Cystathionine Beta Synthase Deficiency" EXACT [] synonym: "Cystathionine beta Synthase Deficiency Disease" EXACT [] synonym: "cystathionine synthase deficiency" EXACT [] synonym: "HOMOCYSTINURIA DUE TO CBS DEFICIENCY" EXACT [] synonym: "HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY" EXACT [] synonym: "Homocystinuria, Pyridoxine-Nonresponsive" EXACT [] synonym: "HOMOCYSTINURIA WITH OR WITHOUT RESPONSE TO PYRIDOXINE" EXACT [] synonym: "HOMOCYSTINURIA WITHOUT METHYLMALONIC ACIDURIA" NARROW [] synonym: "thrombotic hyperhomocysteinemia, CBS-related" EXACT [] xref: GARD:10770 xref: ICD10CM:E72.11 xref: MESH:D006712 xref: NCI:C84765 xref: ORDO:394 is_a: DOID:65 ! connective tissue disease is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder is_a: DOID:9279 ! hyperhomocysteinemia [Term] id: DOID:9265 name: histidine metabolism disease def: "An amino acid metabolic disorder that involves deficiency in histidine. (DO)" [http://en.wikipedia.org/wiki/Histidine#Metabolism "DO"] synonym: "disturbances of histidine metabolism" EXACT [] xref: ICD10CM:E70.4 xref: ICD9CM:270.5 is_a: DOID:9252 ! amino acid metabolic disorder created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:9266 name: cystinuria alt_id: MESH:C531664 alt_id: MESH:C565652 alt_id: MIM:220100 alt_id: OMIA:000256 alt_id: OMIA:001879 alt_id: OMIA:001880 def: "An amino acid metabolic disorder that involves the formation of cystine stones in the kidneys, ureter, and bladder. (DO)" [http://en.wikipedia.org/wiki/Cystinuria "DO"] synonym: "CSNU" EXACT [] synonym: "CSNU1" EXACT [] synonym: "CSNU3" EXACT [] synonym: "cystine urolithiasis" RELATED [] synonym: "cystinurias" EXACT [] synonym: "cystinuria type 1" NARROW [] synonym: "cystinuria type A" NARROW [] synonym: "cystinuria type A/B" NARROW [] synonym: "cystinuria type A-B" NARROW [] synonym: "cystinuria type B" NARROW [] synonym: "cystinuria type I" NARROW [] synonym: "cystinuria type I - A" NARROW [] synonym: "cystinuria type II" NARROW [] synonym: "cystinuria type II - A" NARROW [] synonym: "cystinuria type II - B" NARROW [] synonym: "cystinuria type III" NARROW [] synonym: "cystinuria type NON-I" NARROW [] synonym: "SLC7A9-RELATED CONDITION" NARROW [] xref: EFO:0010826 xref: GARD:6237 xref: ICD10CM:E72.01 xref: MESH:D003555 xref: NCI:C84664 xref: ORDO:214 is_a: DOID:0080653 ! urolithiasis is_a: DOID:1426 ! ureteral disease is_a: DOID:365 ! bladder disease is_a: DOID:9002207 ! Renal Aminoacidurias is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9267 name: urea cycle disorder def: "An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream. (DO)" [http://en.wikipedia.org/wiki/Urea_cycle_disorder "DO"] synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT [] synonym: "disorder of urea cycle metabolism" EXACT [] synonym: "inborn urea cycle disorder" EXACT [] synonym: "inborn urea cycle disorders" EXACT [] synonym: "urea cycle defect" EXACT [] synonym: "urea cycle disorders" EXACT [] xref: GARD:7837 xref: ICD10CM:E72.2 xref: ICD9CM:270.6 xref: MESH:D056806 xref: NCI:C84785 is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9268 name: glycine encephalopathy def: "An amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues. (DO)" [http://en.wikipedia.org/wiki/Nonketotic_hyperglycinemia "DO"] synonym: "GCE" EXACT [] synonym: "glycine encephalopathies" EXACT [] synonym: "NKH" EXACT [] synonym: "NKH HYPERGLYCINEMIA, TRANSIENT NEONATAL" NARROW [] synonym: "non ketotic hyperglycinemia" EXACT [] synonym: "nonketotic hyperglycinemia" EXACT [] synonym: "non-ketotic hyperglycinemias" EXACT [] synonym: "nonketotic hyperglycinemias" EXACT [] synonym: "TNH" NARROW [] synonym: "type III nonketotic hyperglycinemia" EXACT [] synonym: "type II nonketotic hyperglycinemia" EXACT [] synonym: "type I nonketotic hyperglycinemia" EXACT [] xref: GARD:7219 xref: ICD10CM:E72.51 xref: MESH:D020158 xref: MIM:PS605899 xref: NCI:C84937 xref: ORDO:407 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9269 name: maple syrup urine disease def: "An organic acidemia that is caused by a deficiency of decarboxylase leading to high concentrations of valine, leucine, isoleucine, and alloisoleucine in the blood, urine, and cerebrospinal fluid and characterized by an odor of maple syrup to the urine, vomiting, hypertonicity, severe mental retardation, seizures, and eventually death unless the condition is treated with dietary measures. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=maple%20syrup%20urine%20disease "DO"] synonym: "BCKD deficiency" EXACT [] synonym: "Branched Chain alpha Keto Acid Dehydrogenase Deficiency" EXACT [] synonym: "Branched Chain Ketoaciduria" EXACT [] synonym: "Branched-Chain Ketoacidurias" EXACT [] synonym: "Classical Maple Syrup Urine Disease" EXACT [] synonym: "Classic Maple Syrup Urine Disease" EXACT [] synonym: "ketoacidaemia" EXACT [] synonym: "Keto Acid Decarboxylase Deficiency" EXACT [] synonym: "maple syrup urine disease, intermediate" NARROW [] synonym: "maple syrup urine disease, intermittent" NARROW [] synonym: "maple syrup urine disease, mild variant" NARROW [] synonym: "maple syrup urine disease, thiamine-responsive" NARROW [] synonym: "MSUD" EXACT [] synonym: "MSUD (maple syrup urine disease)" EXACT [] synonym: "MSUDMV" EXACT [] xref: GARD:3228 xref: ICD10CM:E71.0 xref: MESH:D008375 xref: MIM:615135 xref: MIM:PS248600 xref: MONDO:0009563 xref: NCI:C34806 xref: ORDO:511 is_a: DOID:0060159 ! organic acidemia is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9270 name: alkaptonuria alt_id: MIM:203500 def: "An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. (DO)" [http://en.wikipedia.org/wiki/Alkaptonuria "DO"] synonym: "AKU" EXACT [] synonym: "Alcaptonuria" EXACT [] synonym: "Alcaptonurias" EXACT [] synonym: "deficiency of homogentisicase" RELATED [] synonym: "homogentisate 1,2-dioxygenase deficiency" EXACT [] synonym: "Homogentisic Acid Oxidase Deficiency" EXACT [] synonym: "Homogentisic Acidura" EXACT [] xref: GARD:5775 xref: MESH:D000474 xref: MONDO:0008753 xref: NCI:C84546 xref: ORDO:56 is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9271 name: ornithine carbamoyltransferase deficiency alt_id: MIM:311250 def: "An urea cycle disorder that involves a mutated and ineffective form of the enzyme ornithine transcarbamylase. (DO)" [http://en.wikipedia.org/wiki/Ornithine_carbamoyltransferase_deficiency "DO"] synonym: "deficiency disease, ornithine carbamoyltransferase" EXACT [] synonym: "deficiency of citrulline phosphorylase" EXACT [] synonym: "Ornithine Transcarbamylase Deficiencies" EXACT [] synonym: "Ornithine Transcarbamylase Deficiency" EXACT [] synonym: "Ornithine Transcarbamylase Deficiency Disease" EXACT [] synonym: "ORNITHINE TRANSCARBAMYLASE DEFICIENCY, HYPERAMMONEMIA DUE TO" EXACT [] synonym: "OTC Deficiencies" EXACT [] synonym: "OTC deficiency" EXACT [] synonym: "OTC DEFICIENCY VALPROATE SENSITIVITY" NARROW [] synonym: "OTC-RELATED CONDITION" EXACT [] xref: EFO:0007409 xref: GARD:8391 xref: ICD10CM:E72.4 xref: MESH:D020163 xref: NCI:C84957 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:9008972 ! Hyperammonemia is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:9273 name: citrullinemia def: "An inherited urea cycle disorder that involves the accumulation of ammonia and other toxic substances in the blood. (DO)" [http://en.wikipedia.org/wiki/Citrullinemia "DO"] synonym: "argininosuccinic acid synthase deficiency disease" EXACT [] synonym: "argininosuccinic acid synthetase deficiency" EXACT [] synonym: "Argininosuccinic Acid Synthetase Deficiency, Complete" EXACT [] synonym: "Argininosuccinic Acid Synthetase Deficiency Disease" EXACT [] synonym: "argininosuccinic acid synthetase deficiency disease, partial" EXACT [] synonym: "argininosuccinic acid synthetase deficiency, partial" EXACT [] synonym: "CITRULLINEMIA, MILD" NARROW [] synonym: "citrullinemias" EXACT [] synonym: "citrullinuria" EXACT [] synonym: "citrullinurias" EXACT [] synonym: "complete argininosuccinic acid synthetase deficiency disease" EXACT [] synonym: "deficiency of citrulline-aspartate ligase" EXACT [] xref: ICD10CM:E72.23 xref: MESH:D020159 xref: NCI:C84639 xref: ORDO:187 is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:9274 name: hyperlysinemia alt_id: MIM:238700 alt_id: MIM:238750 def: "An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood. (DO)" [http://en.wikipedia.org/wiki/Hyperlysinemia "DO"] synonym: "Familial Hyperlysinemia" EXACT [] synonym: "familial hyperlysinemias" EXACT [] synonym: "hyperlysinemias" EXACT [] synonym: "HYPERLYSINEMIA, TYPE I" EXACT [] synonym: "Hyperlysinuria With Hyperammonemia" EXACT [] synonym: "L-Lysine:NAD-oxido-reductase deficiencies" EXACT [] synonym: "L Lysine:NAD Oxido Reductase Deficiency" EXACT [] synonym: "lysine:alpha-ketoglutarate reductase deficiencies" EXACT [] synonym: "Lysine:Alpha Ketoglutarate Reductase Deficiency" EXACT [] synonym: "Lysine Alpha Ketoglutarate Reductase Deficiency Disease" EXACT [] synonym: "lysine intolerance" EXACT [] synonym: "periodic hyperlysinemia" EXACT [] synonym: "periodic hyperlysinemias" EXACT [] xref: GARD:2828 xref: ICD10CM:E72.3 xref: MESH:D020167 xref: NCI:C123433 xref: ORDO:2203 is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9275 name: tyrosinemia def: "An amino acid metabolic disorder that involves impaired break down of the amino acid tyrosine. (DO)" [http://en.wikipedia.org/wiki/Tyrosinemia "DO"] synonym: "FAH deficiency" EXACT [] synonym: "fumarylacetoacetase deficiencies" EXACT [] synonym: "fumarylacetoacetase deficiency" EXACT [] synonym: "fumarylacetoacetase deficiency disease" EXACT [] synonym: "fumarylacetoacetase deficiency diseases" EXACT [] synonym: "Hereditary Tyrosinemia" EXACT [] synonym: "hereditary tyrosinemias" EXACT [] synonym: "Hypertyrosinemia" EXACT [] synonym: "Keratosis Palmoplantaris with Corneal Dystrophy" EXACT [] synonym: "oculocutaneous type tyrosinoses" EXACT [] synonym: "Oculocutaneous Type Tyrosinosis" EXACT [] synonym: "Oregon type tyrosinemia" EXACT [] synonym: "TAT deficiency" EXACT [] synonym: "tyrosine aminotransferase deficiency" EXACT [] synonym: "tyrosinemias" EXACT [] synonym: "tyrosine transaminase deficiency" EXACT [] synonym: "tyrosine transaminase deficiency disease" EXACT [] xref: ICD10CM:E70.21 xref: MESH:D020176 xref: MIM:PS276700 xref: NCI:C98640 is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9277 name: primary cerebellar degeneration alt_id: MIM:248800 def: "A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked." [MESH:D013132] synonym: "corticostriatal spinal degeneration" EXACT [] synonym: "corticostriatal-spinal degenerations" EXACT [] synonym: "Early Onset Cerebellar Ataxia" EXACT [] synonym: "Familial Spinocerebellar Degeneration" EXACT [] synonym: "familial spinocerebellar degenerations" EXACT [] synonym: "Hereditary Ataxia" EXACT [] synonym: "Hereditary Ataxias" EXACT [] synonym: "Hereditary Spinocerebellar Degeneration" EXACT [] synonym: "Hereditary Spinocerebellar Degenerations" EXACT [] synonym: "Inherited Spinocerebellar Degeneration" EXACT [] synonym: "Inherited Spinocerebellar Degenerations" EXACT [] synonym: "Late Onset Cerebellar Ataxia" EXACT [] synonym: "Marie's Cerebellar Ataxia" EXACT [] synonym: "Marie Cerebellar Ataxia" EXACT [] synonym: "MSS" EXACT [] synonym: "Primary Cerebellar Degenerations" EXACT [] synonym: "SENSORIMOTOR NEUROPATHY" NARROW [] synonym: "Spino Cerebellar Degeneration" EXACT [] synonym: "spinocerebellar degeneration" EXACT [] synonym: "spino cerebellar degenerations" EXACT [] synonym: "spinocerebellar degenerations" EXACT [] synonym: "spinocerebellar disease" EXACT [] synonym: "spinocerebellar diseases" EXACT [] xref: ICD9CM:334.2 xref: MESH:D013132 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:2786 ! cerebellar disease is_a: DOID:319 ! spinal cord disease is_a: DOID:9001196 ! Nervous System Heredodegenerative Disorders [Term] id: DOID:9278 name: hyperargininemia alt_id: MIM:207800 def: "An urea cycle disorder that involves arginase deficiency resulting in elevated levels of plasma arginine. (DO)" [https://www.medlink.com/articles/hyperargininemia "DO"] synonym: "ARG1 deficiencies" EXACT [] synonym: "ARG1 Deficiency" EXACT [] synonym: "arginase deficiencies" EXACT [] synonym: "Arginase Deficiency" EXACT [] synonym: "Arginase Deficiency Disease" EXACT [] synonym: "arginase deficiency diseases" EXACT [] synonym: "argininemia" EXACT [] synonym: "deficiency of canavanase" EXACT [] synonym: "hyperargininemias" EXACT [] xref: ICD10CM:E72.21 xref: MESH:D020162 xref: NCI:C84568 is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:9279 name: hyperhomocysteinemia alt_id: MESH:C566403 alt_id: MIM:603174 def: "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood. (DO)" [http://en.wikipedia.org/wiki/Hyperhomocysteinemia "DO"] synonym: "Homocysteinemia" EXACT [] synonym: "HOMOCYSTEINE, TOTAL PLASMA, ELEVATED" EXACT [] synonym: "hyperhomocysteinaemia" EXACT [] synonym: "hyperhomocysteinemias" EXACT [] xref: MESH:D020138 xref: NCI:C84770 is_a: DOID:9002785 ! Vitamin B Deficiency is_a: DOID:9002984 ! Malabsorption Syndromes is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9280 name: carbamoyl phosphate synthetase I deficiency disease alt_id: MIM:237300 def: "A urea cycle disorder that involves accumulation of ammonia in the blood. (DO)" [http://ghr.nlm.nih.gov/condition/carbamoyl-phosphate-synthetase-i-deficiency "DO"] synonym: "Carbamoyl Phosphate Synthase (Ammonia) Deficiency Disease" EXACT [] synonym: "carbamoyl phosphate synthase 1 deficiency" EXACT [] synonym: "carbamoyl phosphate synthase 1 deficiency disease" EXACT [] synonym: "Carbamoyl Phosphate Synthase 1 Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)" EXACT [] synonym: "CARBAMOYL-PHOSPHATE SYNTHASE I DEFICIENCY" EXACT [] synonym: "Carbamoyl-Phosphate Synthase I Deficiency Disease (Ornithine Carbamoyl Phosphate Deficiency)" EXACT [] synonym: "Carbamoylphosphate Synthetase 1 Deficiency Disease" EXACT [] synonym: "Carbamoyl Phosphate Synthetase I Deficiency" EXACT [] synonym: "Carbamoylphosphate Synthetase I Deficiency Disease" EXACT [] synonym: "Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To" EXACT [] synonym: "Carbamyl Phosphate Synthetase (CPS) Deficiency" EXACT [] synonym: "Carbamyl Phosphate Synthetase 1 Deficiency Disease" EXACT [] synonym: "Carbamyl Phosphate Synthetase Deficiency Disease" EXACT [] synonym: "Carbamyl Phosphate Synthetase I Deficiency Disease" EXACT [] synonym: "CONGENITAL HYPERAMMONEMIA, TYPE I" EXACT [] synonym: "CPS 1 Deficiencies" EXACT [] synonym: "CPS 1 Deficiency" EXACT [] synonym: "CPS I Deficiencies" EXACT [] synonym: "CPS I deficiency" EXACT [] synonym: "hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency" EXACT [] xref: EFO:0007193 xref: GARD:7269 xref: MESH:D020165 xref: NCI:C84612 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:700 ! mitochondrial metabolism disease is_a: DOID:9267 ! urea cycle disorder [Term] id: DOID:9281 name: phenylketonuria alt_id: MIM:261600 def: "An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. (DO)" [http://en.wikipedia.org/wiki/Phenylketonuria "DO", https://www.genome.gov/Genetic-Disorders/Phenylketonuria "DO"] synonym: "atypical phenylketonuria" EXACT [] synonym: "atypical PKU" EXACT [] synonym: "BH4 deficiency" EXACT [] synonym: "BH4-DEFICIENT HYPERPHENYLALANINEMIA" NARROW [] synonym: "classical phenylketonuria" EXACT [] synonym: "Folling's disease" EXACT [] synonym: "Folling Disease" EXACT [] synonym: "HPA, NON-PKU MILD" NARROW [] synonym: "Hyperphenylalaninaemia" EXACT [] synonym: "Hyperphenylalaninemia Caused by a Defect in Biopterin Metabolism" EXACT [] synonym: "HYPERPHENYLALANINEMIA, MILD, NON-BH4-DEFICIENT" NARROW [] synonym: "Hyperphenylalaninemia, non-pku" EXACT [] synonym: "HYPERPHENYLALANINEMIA, NON-PKU MILD" NARROW [] synonym: "maternal phenylketonuria" NARROW [] synonym: "Non Phenylketonuric Hyperphenylalaninemia" EXACT [] synonym: "non-phenylketonuric hyperphenylalaninemias" EXACT [] synonym: "Oligophrenia Phenylpyruvica" EXACT [] synonym: "PAH deficiency" EXACT [] synonym: "phenylalanine hydroxylase deficiency" EXACT [] synonym: "phenylalanine hydroxylase deficiency disease" EXACT [] synonym: "phenylalanine hydroxylase deficiency disease, severe" EXACT [] synonym: "phenylalaninemia" EXACT [] synonym: "phenylketonuria I" EXACT [] synonym: "phenylketonuria II" EXACT [] synonym: "phenylketonurias" EXACT [] synonym: "phenylketonuria type 2" EXACT [] synonym: "PKU" EXACT [] synonym: "tetrahydrobiopterin deficiency" EXACT [] xref: GARD:7383 xref: ICD9CM:270.1 xref: MESH:D010661 xref: NCI:C81315 xref: ORDO:716 is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn is_a: DOID:9252 ! amino acid metabolic disorder [Term] id: DOID:9282 name: ocular hypertension def: "An eye disease that is characterized by elevated intraocular pressure in the absence of optic nerve damage or visual field loss. (DO)" [https://en.wikipedia.org/wiki/Ocular_hypertension "DO"] synonym: "ocular hypertensions" EXACT [] synonym: "Suspect Glaucoma" EXACT [] synonym: "suspect glaucomas" EXACT [] xref: EFO:1001069 xref: ICD10CM:H40.05 xref: ICD9CM:365.04 xref: MESH:D009798 xref: NCI:C3285 is_a: DOID:5614 ! eye disease [Term] id: DOID:9283 name: borderline glaucoma def: "A glaucoma characterized by clinical features and risk factors that are associated with high likelihood to developing optic atrophy secondary to glaucoma in the future. These features may include elevated intraocular pressure, retinal nerve fiber layer abnormalities, abnormal anterior chamber angles, and/or a positive family history for glaucoma without any evidence of current optic nerve atrophy. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6055310/ "DO"] synonym: "preglaucoma" EXACT [] xref: ICD10CM:H40.00 xref: ICD9CM:365.00 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9286 name: priapism def: "A peripheral vascular disease characterized by blood trapped in the penis that is unable to drain. (DO)" [http://en.wikipedia.org/wiki/Priapism "DO", http://my.clevelandclinic.org/disorders/priapism/hic_priapism.aspx "DO"] synonym: "mentulagra" EXACT [] synonym: "priapisms" EXACT [] xref: GARD:10016 xref: ICD10CM:N48.3 xref: ICD9CM:607.3 xref: MESH:D011317 xref: NCI:C85022 is_a: DOID:1529 ! penile disease is_a: DOID:341 ! peripheral vascular disease [Term] id: DOID:929 name: myopathy of extraocular muscle synonym: "myopathy of extraocular muscles" EXACT [] xref: ICD10CM:H05.82 xref: ICD9CM:376.82 is_a: DOID:423 ! myopathy created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:9296 name: cleft lip alt_id: OMIA:001140 def: "An orofacial cleft that is characterized by a congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences. (DO)" [https://en.wikipedia.org/wiki/Cleft_lip_and_cleft_palate "DO", https://www.cdc.gov/ncbddd/birthdefects/cleftlip.html "DO"] synonym: "cheiloschisis" EXACT [] synonym: "CLEFT LIP +/- CLEFT PALATE, AUTOSOMAL DOMINANT" NARROW [] synonym: "Cleft Lips" EXACT [] synonym: "Cleft lip with or without cleft palate" EXACT [] synonym: "complete unilateral cleft lip" EXACT [] synonym: "Harelip" EXACT [] synonym: "hare lip" EXACT [] synonym: "Harelips" EXACT [] synonym: "labium leporinum" EXACT [] synonym: "nonsyndromic cleft lip with or without cleft palate" NARROW [] xref: EFO:0003959 xref: ICD10CM:Q36 xref: ICD9CM:749.1 xref: ICD9CM:749.11 xref: MESH:D002971 xref: NCI:C87175 is_a: DOID:0050567 ! orofacial cleft is_a: DOID:9001018 ! Mouth Abnormalities is_a: DOID:9297 ! lip disease [Term] id: DOID:9297 name: lip disease def: "A mouth disease located_in the lip. (DO)" [https://www.merckmanuals.com/home/mouth-and-dental-disorders/lip-and-tongue-disorders/lip-sores-lip-inflammation-and-other-changes "DO"] synonym: "disease of lips" EXACT [] synonym: "lip diseases" EXACT [] xref: ICD10CM:K13.0 xref: ICD9CM:528.5 xref: MESH:D008047 xref: NCI:C26818 is_a: DOID:403 ! mouth disease [Term] id: DOID:9299 name: myocardium cancer synonym: "malignant myocardial tumor" EXACT [] synonym: "malignant neoplasm of myocardium" EXACT [] synonym: "tumor of myocardium" EXACT [] xref: MONDO:0004749 xref: NCI:C4569 xref: NCI:C5349 is_a: DOID:117 ! heart cancer created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:93 name: language disorder def: "A communication disorder that involves the processing of linguistic information. (DO)" [http://en.wikipedia.org/wiki/Language_disorder "DO"] synonym: "acquired language disorder" EXACT [] synonym: "acquired language disorders" EXACT [] synonym: "language disorders" EXACT [] xref: EFO:0005425 xref: MESH:D007806 xref: NCI:C97155 is_a: DOID:2033 ! communication disorder [Term] id: DOID:930 name: orbital disease alt_id: DOID:9370 alt_id: MESH:D005094 def: "An adnexa disease that is located_in the eye socket. (DO)" [http://www.hopkinsmedicine.org/wilmer/services/oculofacial_plastic_surgery/reconstructive/orbital_disease.html "DO"] synonym: "disease of orbital region" BROAD [] synonym: "exophthalmos" EXACT [] synonym: "orbital diseases" EXACT [] synonym: "proptoses" EXACT [] synonym: "proptosis" EXACT [] xref: EFO:0009664 xref: ICD10CM:H05.9 xref: ICD9CM:376.9 xref: MESH:D009916 xref: NCI:C118763 xref: NCI:C87114 is_a: DOID:0080001 ! bone disease is_a: DOID:5614 ! eye disease is_a: DOID:9001010 ! eye adnexa disease [Term] id: DOID:9300 name: neurofibroma of the heart synonym: "neurofibroma of heart" EXACT [] xref: NCI:C5359 is_a: DOID:117 ! heart cancer is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:9305 name: splenic tuberculosis def: "An abdominal tuberculosis that results_in formation of granulomas or abscesses located_in spleen. (DO)" [https://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf "DO"] synonym: "Splenic Tuberculoses" EXACT [] xref: EFO:0007492 xref: ICD10CM:A18.85 xref: ICD9CM:017.7 xref: MESH:D014400 is_a: DOID:0050599 ! abdominal tuberculosis is_a: DOID:2529 ! splenic disease [Term] id: DOID:9306 name: mechanical strabismus xref: ICD10CM:H50.6 xref: ICD9CM:378.6 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9307 name: rectal prolapse alt_id: RDO:0006461 def: "Protrusion of the rectal mucous membrane through the anus. There are various degrees: incomplete with no displacement of the anal sphincter muscle; complete with displacement of the anal sphincter muscle; complete with no displacement of the anal sphincter muscle but with herniation of the bowel; and internal complete with rectosigmoid or upper rectum intussusception into the lower rectum." [MESH:D012005] synonym: "anus prolapse" EXACT [] synonym: "anus prolapses" EXACT [] synonym: "rectal prolapses" EXACT [] synonym: "rectum procidentia" EXACT [] xref: ICD10CM:K62.3 xref: ICD9CM:569.1 xref: MESH:D012005 xref: NCI:C34973 is_a: DOID:1285 ! rectal disease is_a: DOID:9008409 ! Pelvic Organ Prolapse [Term] id: DOID:931 name: monieziasis def: "A parasitic helminthiasis infectious disease that involves zoonotic infection caused by Moniezia expansa, the common tapeworm of sheep. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15287174 "DO"] synonym: "monieziases" EXACT [] xref: EFO:1001372 xref: MESH:D008989 is_a: DOID:9006372 ! Animal Helminthiasis is_a: DOID:9006970 ! Cestode Infections [Term] id: DOID:9310 name: nasal cavity benign neoplasm def: "A respiratory system benign neoplasm that arises from the nasal cavity. (DO)" [https://www.mayoclinic.org/diseases-conditions/nasal-paranasal-tumors/symptoms-causes/syc-20354136 "DO"] synonym: "benign nasal cavity tumor" EXACT [] synonym: "benign neoplasm of the nasal cavity" EXACT [] synonym: "benign tumor of nasal cavity" EXACT [] synonym: "neoplasm of nasal cavity" EXACT [] synonym: "tumor of the nasal cavity" EXACT [] xref: NCI:C4603 is_a: DOID:0050621 ! respiratory system benign neoplasm is_a: DOID:0060096 ! sensory organ benign neoplasm is_a: DOID:2163 ! nasal cavity disease created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:9312 name: chronic ethmoiditis def: "A ethmoid sinusitis which lasts for 12 weeks or more. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] synonym: "chronic ethmoidal sinusitis" EXACT [] synonym: "chronic ethmoid sinusitis" EXACT [] xref: ICD10CM:J32.2 xref: ICD9CM:473.2 xref: NCI:C34472 is_a: DOID:9507 ! ethmoid sinusitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9317 name: lymphangitis def: "A lymphatic system disease that is characterized by inflammation of the lymphatic channels which occurs as a result of infection at a site distal to the channel. It is caused by Streptococcus pyogenes (Group A strep) or Staphylococcus aureus. Lymphangitis is also sometimes called blood poisoning. (DO)" [http://en.wikipedia.org/wiki/Lymphangitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Lymphangitis "DO"] synonym: "lymphangitides" EXACT [] xref: EFO:0007351 xref: ICD10CM:I89.1 xref: ICD9CM:457.2 xref: MESH:D008205 xref: NCI:C34790 is_a: DOID:75 ! lymphatic system disease [Term] id: DOID:9335 name: scotoma def: "A localized defect in the visual field bordered by an area of normal vision. This occurs with a variety of EYE DISEASES (e.g., RETINAL DISEASES and GLAUCOMA); OPTIC NERVE DISEASES, and other conditions." [MESH:D012607] synonym: "altitudinal scotoma" EXACT [] synonym: "altitudinal scotomas" EXACT [] synonym: "Arcuate Scotoma" EXACT [] synonym: "Arcuate Scotomas" EXACT [] synonym: "Bjerrum Scotoma" EXACT [] synonym: "Bjerrum Scotomas" EXACT [] synonym: "Blind spot area scotoma" EXACT [SNOMEDCT_2005_07_31:193673000] synonym: "Central Scotoma" EXACT [] synonym: "Central Scotomas" EXACT [] synonym: "Centrocecal Scotoma" EXACT [] synonym: "Centrocecal Scotomas" EXACT [] synonym: "enlarged angioscotoma" EXACT [] synonym: "Enlarged blind spot" EXACT [] synonym: "enlarged paracaecal scotoma" EXACT [] synonym: "generalized visual field contraction or constriction" EXACT [] synonym: "Paracecal Scotoma" EXACT [] synonym: "Paracecal Scotomas" EXACT [] synonym: "Paracentral Scotoma" EXACT [] synonym: "Paracentral Scotomas" EXACT [] synonym: "Peripheral Scotoma" EXACT [] synonym: "Peripheral Scotomas" EXACT [] synonym: "Ring Scotoma" EXACT [] synonym: "Ring Scotomas" EXACT [] synonym: "Scintillating Scotoma" EXACT [] synonym: "Scintillating Scotomas" EXACT [] synonym: "Scotoma of blind spot area" EXACT [ICD9CM_2006:368.42] synonym: "Scotomas" EXACT [] synonym: "Sector or arcuate visual field defects" EXACT [] synonym: "sector scotoma" EXACT [] synonym: "sector scotomas" EXACT [] xref: ICD10CM:H53.42 xref: ICD10CM:H53.45 xref: ICD9CM:368.42 xref: ICD9CM:368.44 xref: MESH:D012607 is_a: DOID:5614 ! eye disease is_a: DOID:9000343 ! Vision Disorders [Term] id: DOID:9336 name: bestiality synonym: "zoophilia" EXACT [] xref: ICD9CM:302.1 is_a: DOID:0060044 ! paraphilia disorder created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:9339 name: urethral false passage xref: ICD10CM:N36.5 xref: ICD9CM:599.4 is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:934 name: viral infectious disease def: "A disease by infectious agent that results in infection, has_material_basis_in Viruses. (DO)" [http://www.merck.com/mmhe/sec17/ch198/ch198a.html "DO"] subset: RGD_JBrowse_slim synonym: "Viral Disease" EXACT [] synonym: "viral diseases" EXACT [] synonym: "Viral Infection" EXACT [] synonym: "viral infections" EXACT [] synonym: "Viral Infectious Diseases" EXACT [] synonym: "Virus Disease" EXACT [] synonym: "Virus Diseases" EXACT [] synonym: "virus infection" EXACT [] synonym: "virus infections" EXACT [] xref: EFO:0000763 xref: EFO:1001269 xref: ICD10CM:A94 xref: ICD10CM:B34.9 xref: ICD9CM:060-066.99 xref: MESH:D014777 xref: NCI:C3439 xref: NCI:C34396 is_a: DOID:0050117 ! disease by infectious agent [Term] id: DOID:9341 name: urethral diverticulum def: "A pouch or sac-like protrusion in the urethra. (NCI)" [] xref: ICD10CM:N36.1 xref: ICD9CM:599.2 xref: NCI:C39861 is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:9346 name: Taylor's syndrome synonym: "Congestion-fibrosis syndrome" EXACT [] synonym: "pelvic congestion syndrome" EXACT [] synonym: "Taylor syndrome" EXACT [] xref: ICD9CM:625.5 xref: RDO:9004558 is_a: DOID:225 ! syndrome is_a: DOID:345 ! uterine disease created_by: rgd creation_date: 2017-11-01T00:00:00Z [Term] id: DOID:9348 name: carotid artery dissection synonym: "dissection of carotid artery" EXACT [] xref: ICD10CM:I77.71 xref: ICD9CM:443.21 xref: NCI:C125662 is_a: DOID:9006182 ! Carotid Artery Injuries created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9351 name: diabetes mellitus alt_id: DOID:0081062 def: "A glucose metabolism disease that is characterized by chronic hyperglycaemia with disturbances of carbohydrate, fat and protein metabolism resulting from defects in insulin secretion, insulin action, or both. (DO)" [http://www.who.int/diabetes/action_online/basics/en/ "DO", https://en.wikipedia.org/wiki/Diabetes_mellitus "DO", https://medlineplus.gov/diabetes.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/9686693 "DO"] synonym: "diabetes" EXACT [] synonym: "monogenic diabetes" NARROW [] synonym: "transient neonatal diabetes" NARROW [] xref: EFO:0000400 xref: EFO:1001511 xref: ICD10CM:E08-E13 xref: ICD9CM:250 xref: MESH:D003920 xref: NCI:C2985 is_a: DOID:28 ! endocrine system disease is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:9352 name: type 2 diabetes mellitus def: "A diabetes mellitus that is characterized by high blood sugar, insulin resistance, and relative lack of insulin. (DO)" [http://en.wikipedia.org/wiki/Diabetes "DO", http://en.wikipedia.org/wiki/Diabetes_mellitus_type_2 "DO"] synonym: "adult-onset diabetes mellitus" EXACT [] synonym: "diabetes mellitus, noninsulin-dependent, late-onset" EXACT [] synonym: "DIABETES MELLITUS, NONINSULIN-DEPENDENT, MATERNALLY TRANSMITTED" NARROW [] synonym: "DIABETES MELLITUS, NONINSULIN-DEPENDENT, WITH ACANTHOSIS NIGRICANS AND HYPERTENSION" NARROW [] synonym: "diabetes mellitus type 2, protection against" RELATED [] synonym: "DIABETES MELLITUS TYPE 2, SUSCEPTIBILITY TO" RELATED [] synonym: "Diabetes Mellitus, Type II" EXACT [] synonym: "DIABETES MELLITUS, TYPE II, DIGENIC" NARROW [] synonym: "DIABETES MELLITUS, TYPE II, SUSCEPTIBILITY TO" RELATED [] synonym: "Diabetes mellitus with hyperinsulinemia" EXACT [] synonym: "HYPERTENSION, INSULIN RESISTANCE-RELATED, SUSCEPTIBILITY TO" RELATED [] synonym: "INSULIN RESISTANCE, SEVERE, DIGENIC" NARROW [] synonym: "insulin-resistant diabetes mellitus" EXACT [] synonym: "Ketosis-Resistant Diabetes Mellitus" EXACT [] synonym: "Maturity-Onset Diabetes" EXACT [] synonym: "MATURITY-ONSET DIABETES INSULIN RESISTANCE, SUSCEPTIBILITY TO" RELATED [] synonym: "Maturity Onset Diabetes Mellitus" EXACT [] synonym: "NEUROD1-RELATED CONDITION" RELATED [] synonym: "NIDDM" EXACT [] synonym: "Non-Insulin-Dependent Diabetes Mellitus" EXACT [] synonym: "noninsulin-dependent diabetes mellitus" EXACT [] synonym: "noninsulin-dependent diabetes mellitus, association with" RELATED [] synonym: "slow-onset diabetes mellitus" EXACT [] synonym: "stable diabetes mellitus" EXACT [] synonym: "T2D" EXACT [] synonym: "type 2 diabetes" EXACT [] synonym: "UCP3 polymorphism G/A" RELATED [] xref: EFO:0001360 xref: EFO:0010164 xref: ICD10CM:E11 xref: MESH:D003924 xref: MIM:125853 xref: MONDO:0005148 xref: NCI:C26747 is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9358 name: fibular collateral ligament bursitis xref: ICD9CM:726.63 is_a: DOID:0080001 ! bone disease is_a: DOID:204 ! enthesopathy created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:936 name: brain disease alt_id: MIM:614212 def: "A central nervous system disease that is located_in the brain. (DO)" [https://medlineplus.gov/braindiseases.html "DO"] synonym: "brain diseases" EXACT [] synonym: "brain disorder" EXACT [] synonym: "brain disorders" EXACT [] synonym: "central nervous system intracranial disorders" EXACT [] synonym: "delayed encephalopathy after acute carbon monoxide poisoning" NARROW [] synonym: "encephalon disease" EXACT [] synonym: "encephalon diseases" EXACT [] synonym: "encephalopathies" EXACT [] synonym: "encephalopathy" EXACT [] synonym: "ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 4" RELATED [] synonym: "IIAE4" NARROW [] synonym: "INFANTILE ENCEPHALOPATHY" NARROW [] synonym: "intracranial CNS disorder" EXACT [] synonym: "intracranial CNS disorders" EXACT [] synonym: "NEONATAL ENCEPHALOPATHY" NARROW [] xref: EFO:0005534 xref: EFO:0005774 xref: ICD10CM:G93.40 xref: ICD10CM:G93.9 xref: ICD9CM:348.30 xref: ICD9CM:348.9 xref: MESH:D001927 xref: MIM:PS610551 xref: MIM:PS614388 xref: NCI:C26920 xref: NCI:C96413 is_a: DOID:331 ! central nervous system disease [Term] id: DOID:9360 name: intrinsic asthma def: "A chronic asthma that is triggered by factors not attributable to allergies. (DO)" [http://www.aafa.org/display.cfm?id=8&sub=17 "DO", http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1532783/pdf/califmed00272-0002b.pdf "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4099102/ "DO"] synonym: "non-atopic asthma" EXACT [] xref: ICD9CM:493.1 is_a: DOID:0080809 ! chronic asthma created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:9362 name: status asthmaticus def: "An acute asthma that is characterized by an acute episode with a progressive severity that is poorly responsive to standard therapeutic measures, regardless of disease severity or phenotypic variant. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK526070/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/11399724 "DO"] synonym: "Asthmatic Crises" EXACT [] synonym: "Asthmatic Crisis" EXACT [] synonym: "Asthmatic Shock" EXACT [] synonym: "Asthmatic Shocks" EXACT [] synonym: "asthma with status asthmaticus" EXACT [] synonym: "severe asthma attack" EXACT [] xref: EFO:0008590 xref: ICD9CM:493.91 xref: MESH:D013224 xref: NCI:C122577 is_a: DOID:0080810 ! acute asthma [Term] id: DOID:9365 name: vesiculitis synonym: "seminal vesiculitis" EXACT [] xref: ICD10CM:N49.0 xref: ICD9CM:608.0 xref: RDO:9004661 is_a: DOID:48 ! male reproductive system disease is_a: DOID:9005372 ! Inflammation created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:9368 name: keratoconjunctivitis def: "Simultaneous inflammation of the cornea and conjunctiva." [MESH:D007637] synonym: "Keratoconjunctivitides" EXACT [] xref: ICD10CM:H16.2 xref: ICD9CM:370.40 xref: MESH:D007637 xref: NCI:C34744 xref: RDO:0005930 is_a: DOID:4677 ! keratitis is_a: DOID:6195 ! conjunctivitis [Term] id: DOID:9369 name: orbital plasma cell granuloma def: "A nonspecific tumor-like inflammatory lesion in the ORBIT of the eye. It is usually composed of mature LYMPHOCYTES; PLASMA CELLS; MACROPHAGES; LEUKOCYTES with varying degrees of FIBROSIS. Orbital pseudotumors are often associated with inflammation of the extraocular muscles (ORBITAL MYOSITIS) or inflammation of the lacrimal glands (DACRYOADENITIS)." [MESH:D016727] synonym: "Inflammatory Pseudotumor of Orbit" EXACT [] synonym: "Orbital Inflammatory Pseudotumor" EXACT [] synonym: "Orbital Inflammatory Pseudotumors" EXACT [] synonym: "orbital myositis" EXACT [] synonym: "Orbital Pseudotumor" EXACT [] synonym: "Orbital Pseudotumors" EXACT [] synonym: "pseudotumor of orbit" EXACT [] xref: EFO:1001077 xref: MESH:D016727 is_a: DOID:1397 ! chronic orbital inflammation is_a: DOID:930 ! orbital disease [Term] id: DOID:9373 name: postural kyphosis def: "A kyphosis that has_material_basis_in slouching which results_in stretching of spinal ligament and abnormal formation located_in vertebra. (DO)" [http://en.wikipedia.org/wiki/Kyphosis "DO", http://www.allaboutbackpain.com/html/spine_thoracic/spine_thoracic_kyphosis2.html "DO", http://www.mayoclinic.com/health/kyphosis/DS00681/DSECTION=causes "DO"] is_a: DOID:4667 ! kyphosis created_by: mtutaj creation_date: 2023-07-21T10:11:59Z [Term] id: DOID:9375 name: Fuchs' heterochromic uveitis def: "A syndrome that is a chronic unilateral (or rarely bilateral) iridocyclitis appearing with the triad of heterochromia, predisposition to cataracts and glaucoma, and keratitic percipitates on the posterior corneal surface. (DO)" [http://en.wikipedia.org/wiki/Fuchs_heterochromic_iridocyclitis "DO"] synonym: "Fuch's Heterochromic iridocyclitis" EXACT [] synonym: "Fuchs' heterochromic cyclitis" EXACT [] synonym: "Fuchs uveitis syndrome" EXACT [] xref: GARD:6791 xref: ICD10CM:H20.81 xref: ICD9CM:364.21 is_a: DOID:225 ! syndrome is_a: DOID:9383 ! iridocyclitis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:9378 name: glaucomatocyclitic crisis synonym: "Posner-Schlossman syndrome" EXACT [] synonym: "Posner-Schlossman Syndrome (PSS)" EXACT [] synonym: "Terrien-Viel syndrome" EXACT [] xref: GARD:10737 xref: ICD9CM:364.22 xref: RDO:9003092 is_a: DOID:9383 ! iridocyclitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9383 name: iridocyclitis def: "Acute or chronic inflammation of the iris and ciliary body characterized by exudates into the anterior chamber, discoloration of the iris, and constricted, sluggish pupil. Symptoms include radiating pain, photophobia, lacrimation, and interference with vision." [MESH:D015863] synonym: "heterochromic cyclitides" EXACT [] synonym: "heterochromic cyclitis" EXACT [] synonym: "iridocyclitides" EXACT [] synonym: "primary iridocyclitis" EXACT [] xref: ICD10CM:H20.01 xref: ICD9CM:364.01 xref: ICD9CM:364.2 xref: MESH:D015863 is_a: DOID:1407 ! anterior uveitis is_a: DOID:240 ! iris disease [Term] id: DOID:9384 name: gonococcal iridocyclitis xref: ICD10CM:A54.32 xref: ICD9CM:098.41 is_a: DOID:9005473 ! Bacterial Eye Infections is_a: DOID:9008538 ! Neisseriaceae Infections is_a: DOID:9383 ! iridocyclitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9388 name: lens-induced iridocyclitis xref: ICD10CM:H20.2 xref: ICD9CM:364.23 is_a: DOID:9383 ! iridocyclitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9389 name: infectious anterior uveitis synonym: "secondary infected iridocyclitis" EXACT [SNOMEDCT_2005_07_31:193487008] synonym: "secondary iridocyclitis, infectious" EXACT [ICD9CM_2006:364.03] xref: ICD10CM:H20.03 xref: ICD9CM:364.03 xref: RDO:9003095 is_a: DOID:9383 ! iridocyclitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9392 name: tracheitis def: "A tracheal disease which involves bacterial infection of the trachea often caused by Staphylococcus aureus and streptococci that follows a recent viral upper respiratory infection. The symptoms include barking croup cough, loud squeaking noise while breathing, scratchy feeling in the throat, high fever, and production of large amounts of pus-filled secretions. (DO)" [http://www.merck.com/mmpe/sec19/ch277/ch277j.html?qt=tracheitis&alt=sh "DO"] synonym: "acute tracheitis" EXACT [] synonym: "chronic tracheitis" EXACT [] synonym: "tracheitides" EXACT [] xref: EFO:0007518 xref: ICD10CM:J04.1 xref: ICD9CM:464.1 xref: MESH:D014136 xref: NCI:C78643 is_a: DOID:3225 ! tracheal disease is_a: DOID:9005372 ! Inflammation is_a: DOID:9008680 ! Respiratory Tract Infections [Term] id: DOID:9395 name: croup def: "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus. (DO)" [http://books.google.com/books?id=G6k0tpPMRsIC&pg=PA254&lpg=PA254&dq#v=onepage&q=&f=false "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000959.htm "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=croup "DO"] synonym: "acute laryngotracheobronchitis" EXACT [] synonym: "acute obstructive laryngitis" EXACT [] synonym: "Croup syndrome" EXACT [] synonym: "Laryngotracheobronchitis" EXACT [] synonym: "Postintubation Croup" EXACT [] synonym: "Spasmodic Croup" EXACT [] synonym: "Viral Croup" EXACT [] xref: EFO:0007227 xref: ICD10CM:J05.0 xref: ICD9CM:464.4 xref: MESH:D003440 xref: NCI:C26735 is_a: DOID:3437 ! laryngitis [Term] id: DOID:9396 name: acute laryngitis def: "A laryngitis which lasts less than a few days. (DO)" [http://en.wikipedia.org/wiki/Laryngitis "DO"] xref: ICD10CM:J04.0 xref: ICD9CM:464.0 xref: ICD9CM:464.01 xref: NCI:C26688 is_a: DOID:3437 ! laryngitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:9398 name: epiglottitis def: "An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. (DO)" [http://en.wikipedia.org/wiki/Epiglottitis "DO"] synonym: "acute epiglottitis" EXACT [] synonym: "acute epiglottitis and supraglottitis" EXACT [] synonym: "Epiglottitides" EXACT [] xref: EFO:0007261 xref: ICD10CM:J05.1 xref: ICD10CM:J05.10 xref: ICD9CM:464.3 xref: MESH:D004826 xref: NCI:C116007 is_a: DOID:9000140 ! Supraglottitis is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:9401 name: epididymo-orchitis xref: ICD10CM:N45.3 xref: ICD9CM:604 is_a: DOID:9402 ! epididymitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:9402 name: epididymitis def: "Inflammation of the EPIDIDYMIS. Its clinical features include enlarged epididymis, a swollen SCROTUM; PAIN; PYURIA; and FEVER. It is usually related to infections in the URINARY TRACT, which likely spread to the EPIDIDYMIS through either the VAS DEFERENS or the lymphatics of the SPERMATIC CORD." [MESH:D004823] synonym: "epididymitides" EXACT [] xref: ICD10CM:N45.1 xref: MESH:D004823 is_a: DOID:0080373 ! epididymis disease [Term] id: DOID:9406 name: hypopituitarism def: "A pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland. (DO)" [http://en.wikipedia.org/wiki/Hypopituitarism "DO"] synonym: "adenohypophyseal hyposecretion" EXACT [] synonym: "anterior pituitary hyposecretion syndrome" EXACT [] synonym: "pituitary hormone deficiency" EXACT [] synonym: "pituitary hypofunction" EXACT [] synonym: "pituitary insufficiency" EXACT [] xref: EFO:0001380 xref: GARD:2917 xref: MESH:D007018 xref: NCI:C62591 xref: ORDO:95494 is_a: DOID:53 ! pituitary gland disease [Term] id: DOID:9407 name: strictly posterior acute myocardial infarction xref: ICD9CM:410.60 is_a: DOID:9408 ! acute myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:9408 name: acute myocardial infarction xref: EFO:0008583 xref: ICD10CM:I21 xref: ICD9CM:410 xref: NCI:C35204 is_a: DOID:5844 ! myocardial infarction created_by: rgd creation_date: 2017-09-06T00:00:00Z [Term] id: DOID:9409 name: diabetes insipidus def: "A kidney disease that is characterized by polydipsia and polyuria with a dilute urine having a specific gravity less than 1.010, hypernatremia, and dehydration. (DO)" [https://pubmed.ncbi.nlm.nih.gov/26913870/ "DO", https://pubmed.ncbi.nlm.nih.gov/27156759/ "DO", https://pubmed.ncbi.nlm.nih.gov/28476225/ "DO", https://www.ncbi.nlm.nih.gov/labs/pmc/articles/PMC7426034/ "DO"] xref: ICD10CM:E23.2 xref: ICD9CM:253.5 xref: MESH:D003919 xref: MONDO:0004782 xref: NCI:C43263 is_a: DOID:53 ! pituitary gland disease is_a: DOID:557 ! kidney disease [Term] id: DOID:9410 name: panhypopituitarism alt_id: DOID:9003666 def: "A hypopituitarism characterized by deficiency in growth hormone and at least one other pituitary hormone. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27828722 "DO"] synonym: "autosominal recessive combined pituitary hormone deficiency" NARROW [] synonym: "combined pituitary hormone deficiency" EXACT [] synonym: "Simmond's disease" EXACT [] synonym: "Simmonds' disease" EXACT [] xref: EFO:0020037 xref: ICD9CM:253.2 xref: MESH:C580003 xref: MIM:PS613038 xref: NCI:C110940 xref: ORDO:90695 is_a: DOID:9406 ! hypopituitarism [Term] id: DOID:9415 name: allergic asthma def: "An extrinsic asthma that is characterized by symptoms that are triggered by an allergic reaction caused by inhaled allergens such as dust mite allergen, pet dander, pollen and mold. The disease has_symptom coughing, has_symptom wheezing, has_symptom shortness of breath or has_symptom rapid breathing, and has_symptom chest tightness. (DO)" [http://www.aafa.org/display.cfm?id=8&sub=16 "DO", https://www.ncbi.nlm.nih.gov/books/NBK526018/ "DO"] synonym: "allergic atopic asthma" EXACT [] synonym: "atopic asthma" RELATED [] synonym: "extrinsic asthma with acute exacerbation" EXACT [] synonym: "extrinsic asthma with status asthmaticus" EXACT [] xref: EFO:0010638 xref: ICD10CM:J45 xref: ICD9CM:493.0 is_a: DOID:0060496 ! respiratory allergy is_a: DOID:0080811 ! extrinsic asthma created_by: rgd creation_date: 2016-08-22T00:00:00Z [Term] id: DOID:9423 name: blepharitis def: "An eyelid disease that is characterized by often chronic inflammation of the eyelid, generally the part where eyelashes grow. (DO)" [http://en.wikipedia.org/wiki/Blepharitis "DO"] synonym: "blepharitides" EXACT [] xref: EFO:0009536 xref: ICD10CM:H01.0 xref: ICD9CM:373.0 xref: ICD9CM:373.4 xref: MESH:D001762 xref: NCI:C112183 is_a: DOID:530 ! eyelid disease [Term] id: DOID:9427 name: hypertensive encephalopathy def: "Brain dysfunction or damage resulting from sustained MALIGNANT HYPERTENSION. When BLOOD PRESSURE exceeds the limits of cerebral autoregulation, cerebral blood flow is impaired (BRAIN ISCHEMIA). Clinical manifestations include HEADACHE; NAUSEA; VOMITING; SEIZURES; altered mental status (in some cases progressing to COMA); PAPILLEDEMA; and RETINAL HEMORRHAGE." [MESH:D020343] xref: EFO:1000976 xref: ICD10CM:I67.4 xref: ICD9CM:437.2 xref: MESH:D020343 xref: NCI:C3503 is_a: DOID:9428 ! intracranial hypertension [Term] id: DOID:9428 name: intracranial hypertension def: "A brain disease that is characterized by high pressure inside the skull, the brain tissue and cerebrospinal fluid, has_symptom headache, has_symptom vomiting, has_symptom altered mental status, has_symptom papilledema. (DO)" [https://en.wikipedia.org/wiki/Brain_herniation "DO", https://en.wikipedia.org/wiki/Intracranial_pressure "DO"] synonym: "elevated ICP (intracranial pressure)" EXACT [] synonym: "Elevated Intracranial Pressure" EXACT [] synonym: "ICP (intracranial pressure) elevation" EXACT [] synonym: "ICP (intracranial pressure) increase" EXACT [] synonym: "intracranial pressure increase" EXACT [] synonym: "raised intracranial pressure" EXACT [] xref: EFO:1000992 xref: MESH:D019586 xref: NCI:C84791 is_a: DOID:936 ! brain disease [Term] id: DOID:9432 name: renal glycosuria def: "A renal tubular transport disease characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and other signs of tubular dysfunction. (DO)" [https://www.merckmanuals.com/professional/genitourinary-disorders/renal-transport-abnormalities/renal-glucosuria "DO", https://www.ncbi.nlm.nih.gov/books/NBK557441/ "DO", MESH:D006030] synonym: "GLYS" EXACT [] synonym: "GLYS1" EXACT [] synonym: "renal diabetes" EXACT [] synonym: "renal glucosuria" EXACT [] xref: EFO:1001151 xref: ICD9CM:271.4 xref: MESH:D006030 is_a: DOID:447 ! renal tubular transport disease is_a: DOID:9003426 ! Glycosuria [Term] id: DOID:9439 name: chronic cholangitis xref: NCI:C35335 is_a: DOID:9446 ! cholangitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:9442 name: cervical Mullerian papilloma def: "A cervical benign neoplasm that is a polypoid lesion of the superficial cervix or vagina of young girls to adult women and is characterized by papillary stalks covered by mucinous epithelium with focal squamous metaplasia, highly cellular fibrous tissue, no atypia, and minimal mitotic activity. (DO)" [http://www.pathologyoutlines.com/topic/cervixmesonephricpap.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/22935300 "DO"] synonym: "cervical Muellerian papilloma" EXACT [] xref: NCI:C40215 is_a: DOID:0060110 ! cervical benign neoplasm [Term] id: DOID:9445 name: cervix squamous papilloma def: "A cervical benign neoplasm that is a polypoid lesion characterized by a single papillary frond with a central fibrovascular core and mature squamous epithelium. (DO)" [http://www.pathologyoutlines.com/topic/cervixsquamouspapilloma.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/13005077 "DO"] synonym: "squamous papilloma of the cervix uteri" EXACT [NCI2004_11_17:C6342] xref: NCI:C6342 is_a: DOID:0060110 ! cervical benign neoplasm is_a: DOID:2615 ! papilloma created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:9446 name: cholangitis def: "A bile duct disease that is an inflammation of the bile duct. (DO)" [http://en.wikipedia.org/wiki/Cholangitis "DO"] synonym: "cholangitides" EXACT [] xref: ICD9CM:576.1 xref: MESH:D002761 xref: NCI:C26718 is_a: DOID:4138 ! bile duct disease [Term] id: DOID:9452 name: steatotic liver disease def: "A lipid storage disease characterized by the accumulation of large vacuoles of triglyceride fat in at least 5% of hepatocytes. (DO)" [https://pubmed.ncbi.nlm.nih.gov/27099587/ "DO", https://pubmed.ncbi.nlm.nih.gov/37364816/ "DO"] synonym: "cryptogenic steatotic liver disease" NARROW [] synonym: "fatty change of liver" EXACT [] synonym: "fatty liver" EXACT [] synonym: "fatty liver disease" EXACT [] synonym: "FATTY LIVER DISEASE, PROTECTION FROM" RELATED [] synonym: "hepatic lipidosis" EXACT [] synonym: "hepatic steatosis" EXACT [] synonym: "hepatosteatosis" EXACT [] synonym: "HSD17B13 POLYMORPHISM" RELATED [] synonym: "liver steatoses" EXACT [] synonym: "liver steatosis" EXACT [] synonym: "SLD" EXACT [] synonym: "steatohepatitides" EXACT [] synonym: "steatohepatitis" EXACT [] synonym: "steatosis of liver" EXACT [] synonym: "visceral steatoses" EXACT [] synonym: "visceral steatosis" EXACT [] xref: EFO:0003934 xref: ICD10CM:K70.0 xref: ICD9CM:571.0 xref: MESH:D005234 xref: MONDO:0004790 xref: NCI:C150596 is_a: DOID:409 ! liver disease is_a: DOID:9455 ! lipid storage disease [Term] id: DOID:9455 name: lipid storage disease def: "A lysosomal storage disease that involves the accumulation of harmful amounts of lipids (fats) in some of the body's cells and tissues. (DO)" [http://en.wikipedia.org/wiki/Lipidoses "DO"] synonym: "inborn lipid storage disorder" EXACT [] synonym: "Lipidoses" EXACT [] synonym: "Lipidosis" EXACT [] synonym: "Lipoidosis" EXACT [] synonym: "lipoid storage diseas" EXACT [] synonym: "steatosis" EXACT [] xref: EFO:0008527 xref: ICD10CM:E75.6 xref: ICD9CM:272.7 xref: ICD9CM:272.8 xref: MESH:D008064 is_a: DOID:3146 ! lipid metabolism disorder is_a: DOID:3211 ! lysosomal storage disease [Term] id: DOID:9459 name: isthmus cancer xref: ICD9CM:182.1 is_a: DOID:9460 ! uterine corpus cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:946 name: dientamoebiasis def: "A parasitic protozoa infectious disease that involves infection of the large intestine by a protozoan parasite Dientamoeba fragilis. The symptoms include diarrhea, stomach pain and cramping, loss of appetite and weight, nausea, and fatigue. (DO)" [http://www.cdc.gov/ncidod/dpd/parasites/dientamoeba/factsht_dientamoeba.htm "DO"] synonym: "dientamoebiases" EXACT [] synonym: "intestinal trichomoniasis" EXACT [] xref: MESH:D004030 is_a: DOID:2789 ! parasitic protozoa infectious disease is_a: DOID:9002892 ! Parasitic Intestinal Diseases [Term] id: DOID:9460 name: uterine corpus cancer def: "A uterine cancer that is located_in the uterine corpus. (DO)" [http://en.wikipedia.org/wiki/Uterine_cancer "DO", http://en.wikipedia.org/wiki/Uterus "DO"] synonym: "corpus uteri cancer" EXACT [] synonym: "EFO:0007532" EXACT [] xref: EFO:0007532 xref: ICD10CM:C54 xref: ICD9CM:182 xref: NCI:C3556 xref: RDO:9002561 is_a: DOID:363 ! uterine cancer created_by: rgd creation_date: 2017-10-06T00:00:00Z [Term] id: DOID:9461 name: exposure keratitis synonym: "Exposure keratoconjunctivitis" EXACT [ICD9CM_2006:370.34] synonym: "lagophthalmic keratitis" EXACT [SNOMEDCT_2005_07_31:14366000] xref: ICD10CM:H16.21 xref: ICD9CM:370.34 xref: RDO:9003236 is_a: DOID:9368 ! keratoconjunctivitis created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:9462 name: cholesteatoma of external ear def: "A cholesteatoma which involves invasion of the squamous tissue into a localized area of bony erosion of the ear canal. It may develop spontaneously or as a consequence of infection, trauma or surgery. (DO)" [http://www.ncbi.nlm.nih.gov/sites/entrez/10993445 "DO", http://www.ncbi.nlm.nih.gov/sites/entrez/15763298 "DO"] synonym: "external canal cholesteatoma" EXACT [] xref: EFO:1000677 xref: ICD10CM:H60.4 xref: ICD9CM:380.21 is_a: DOID:379 ! external ear disease is_a: DOID:869 ! cholesteatoma created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:9463 name: otitis externa def: "An external ear disease that involves inflammation of the outer ear and ear canal. It can be caused by active bacterial or fungal infections. (DO)" [http://en.wikipedia.org/wiki/Otitis_externa "DO"] synonym: "external otitides" EXACT [] synonym: "external otitis" EXACT [] synonym: "swimmer's ear" EXACT [] xref: EFO:0009560 xref: ICD9CM:380.1 xref: MESH:D010032 xref: NCI:C3299 is_a: DOID:379 ! external ear disease is_a: DOID:9007481 ! Otitis [Term] id: DOID:9467 name: nail-patella syndrome alt_id: MIM:161200 def: "A syndrome characterized by nail dysplasia and absent or hypoplastic patellae that has_material_basis_in heterozygous mutation in the LMX1B gene on chromosome 9q33.3. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15416035 "DO", https://www.ncbi.nlm.nih.gov/pubmed/9590287 "DO"] synonym: "Fong disease" EXACT [] synonym: "hereditary onychoostedysplasia" EXACT [] synonym: "Hereditary Onycho-Osteodysplasia" EXACT [] synonym: "Hereditary Osteo-Onychodysplasia" EXACT [] synonym: "Hereditary Osteo-Onychodysplasias" EXACT [] synonym: "iliac horn syndrome" EXACT [] synonym: "LMX1B-RELATED CONDITION" BROAD [] synonym: "NPS" EXACT [] synonym: "NPS1" EXACT [] synonym: "Onychoosteodysplasia" EXACT [] synonym: "Osterreicher Syndrome" EXACT [] synonym: "Pelvic Horn Syndrome" EXACT [] synonym: "Turner Kieser syndrome" EXACT [] synonym: "Turner-Kiser syndrome" EXACT [] xref: GARD:7160 xref: MESH:D009261 xref: NCI:C75120 xref: ORDO:2614 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:225 ! syndrome is_a: DOID:381 ! arthropathy is_a: DOID:4123 ! nail disease is_a: DOID:9007653 ! Multiple Abnormalities [Term] id: DOID:9470 name: bacterial meningitis def: "A meningitis that has_material_basis_in a bacterial infection. (DO)" [https://en.wikipedia.org/wiki/Meningitis#Bacterial "DO"] synonym: "bacterial meningitides" EXACT [] xref: EFO:1000831 xref: GARD:5881 xref: ICD10CM:G00 xref: ICD9CM:320 xref: MESH:D016920 xref: NCI:C118297 is_a: DOID:9002742 ! Central Nervous System Bacterial Infections is_a: DOID:9471 ! meningitis [Term] id: DOID:9471 name: meningitis def: "A central nervous system disease that is characterized by an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. (DO)" [http://www.ncbi.nlm.nih.gov/books/bv.fcgi?rid=mmed.section.5162 "DO"] synonym: "meningitides" EXACT [] synonym: "pachymeningitides" EXACT [] synonym: "pachymeningitis" EXACT [] xref: EFO:0000584 xref: ICD9CM:322.9 xref: MESH:D008581 xref: MONDO:0021108 xref: NCI:C26828 is_a: DOID:331 ! central nervous system disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9473 name: mononeuritis of lower limb xref: ICD9CM:355.8 is_a: DOID:1802 ! mononeuritis created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:9476 name: Sheehan syndrome synonym: "Postpartum Hypopituitarism" EXACT [NCI2004_11_17:C35300] synonym: "Postpartum Panhypopituitarism" EXACT [] synonym: "Postpartum Pituitary Insufficiency" EXACT [] synonym: "Sheehan's syndrome" EXACT [SNOMEDCT_2005_07_31:154703006] xref: GARD:7630 xref: NCI:C35300 xref: RDO:9003535 is_a: DOID:225 ! syndrome is_a: DOID:9000610 ! Obstetric Labor Complications is_a: DOID:9406 ! hypopituitarism created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9477 name: pulmonary embolism def: "An artery disease characterized by a blockage of the main artery of the lung or one of its branches by a substance that has travelled from elsewhere in the body, e.g. a blood clot. (DO)" [http://en.wikipedia.org/wiki/Pulmonary_embolism "DO", http://www.nlm.nih.gov/medlineplus/pulmonaryembolism.html "DO"] synonym: "pulmonary artery embolism" EXACT [] synonym: "pulmonary embolisms" EXACT [] synonym: "pulmonary embolus" EXACT [] synonym: "pulmonary thromboembolism" EXACT [] synonym: "pulmonary thromboembolisms" EXACT [] xref: EFO:0003827 xref: ICD10CM:I26 xref: MESH:D011655 xref: NCI:C50713 is_a: DOID:60001 ! pulmonary artery disease is_a: DOID:9002522 ! Embolism [Term] id: DOID:9478 name: postpartum depression def: "An endogenous depression that involves intense, sustained and sometimes disabling depression experienced by women after giving birth. (DO)" [http://en.wikipedia.org/wiki/Mood_disorder "DO"] synonym: "maternity blues" EXACT [] synonym: "post natal depression" EXACT [] synonym: "postnatal depression" EXACT [] synonym: "post partum depression" EXACT [] xref: EFO:0007453 xref: ICD10CM:F53.0 xref: MESH:D019052 xref: NCI:C92852 is_a: DOID:1595 ! melancholic depression is_a: DOID:9001791 ! Puerperal Disorders [Term] id: DOID:9483 name: ulcerative blepharitis xref: ICD10CM:H01.01 xref: ICD9CM:373.01 is_a: DOID:9423 ! blepharitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9487 name: Meckel's diverticulum alt_id: MIM:155140 def: "A physical disorder that is characterized by a congenital abnormality characterized by the outpouching or sac formation in the ileum. (DO)" [https://en.wikipedia.org/wiki/Meckel's_diverticulum "DO"] synonym: "Meckel diverticulum" EXACT [] synonym: "persistent vitelline duct" EXACT [] xref: EFO:1001036 xref: ICD10CM:Q43.0 xref: ICD9CM:751.0 xref: MESH:D008467 xref: NCI:C12264 is_a: DOID:0080015 ! physical disorder is_a: DOID:9001008 ! Diverticulum is_a: DOID:9001683 ! Digestive System Abnormalities [Term] id: DOID:949 name: chronic dacryoadenitis xref: ICD10CM:H04.02 xref: ICD9CM:375.02 is_a: DOID:950 ! dacryoadenitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9496 name: unilateral hypoactive labyrinth xref: ICD9CM:386.53 xref: MONDO:0004801 is_a: DOID:566 ! labyrinthine dysfunction created_by: rgd creation_date: 2017-11-07T00:00:00Z [Term] id: DOID:9498 name: pulmonary eosinophilia def: "A hypereosinophilic syndrome characterized by the accumulation of eosinophils in the lungs. (DO)" [https://rarediseases.org/rare-diseases/simple-pulmonary-eosinophilia/ "DO"] synonym: "Eosinophilic Pneumonia" EXACT [] synonym: "eosinophilic pneumonias" EXACT [] synonym: "pulmonary eosinophilias" EXACT [] synonym: "Simple Pulmonary Eosinophilia" EXACT [] synonym: "Simple Pulmonary Eosinophilias" EXACT [] synonym: "tropical eosinophilic pneumonia" EXACT [] synonym: "tropical eosinophilic pneumonias" EXACT [] xref: ICD9CM:518.3 xref: MESH:D011657 is_a: DOID:850 ! lung disease is_a: DOID:999 ! hypereosinophilic syndrome [Term] id: DOID:9499 name: disseminated eosinophilic collagen disease xref: RDO:9002619 is_a: DOID:854 ! collagen disease is_a: DOID:999 ! hypereosinophilic syndrome created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:950 name: dacryoadenitis synonym: "dacryoadenitides" EXACT [] xref: ICD10CM:H04.0 xref: ICD9CM:375.0 xref: NCI:C26971 is_a: DOID:1400 ! lacrimal apparatus disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:9500 name: leukocyte disease def: "A hematopoietic system disease that is located_in white blood cells. (DO)" [https://rarediseases.org/rare-diseases/leukocyte-adhesion-deficiency-syndromes/ "DO"] synonym: "leukocyte disorder" EXACT [] synonym: "leukocyte disorders" EXACT [] xref: ICD10CM:D72.9 xref: ICD9CM:288 xref: MESH:D007960 is_a: DOID:74 ! hematopoietic system disease [Term] id: DOID:9502 name: chronic eosinophilic pneumonia def: "An eosinophilic pneumonia which slowly progresses over weeks to months. Life-threatening shortness of breath can develop if the condition is not treated. Individuals are often diagnosed with asthma before the advent of this disease. (DO)" [http://www.merck.com/mmhe/print/sec04/ch051/ch051c.html "DO", http://www.merck.com/mmpe/sec05/ch055/ch055d.html#sec05-ch055-ch055d-849 "DO"] synonym: "cryptogenic pulmonary eosinophilia" EXACT [] xref: GARD:1130 xref: GARD:2134 xref: ICD10CM:J82.81 xref: NCI:C34471 is_a: DOID:5870 ! eosinophilic pneumonia is_a: DOID:9498 ! pulmonary eosinophilia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:9503 name: Loeffler syndrome def: "An eosinophilic pneumonia described as a form of pulmonary eosinophilia characterized as a mild pneumonitis marked by transitory pulmonary infiltration and eosinophilia and usually considered to be an allergic reaction. It can occur in response to a parasitic infection. (DO)" [http://en.wikipedia.org/wiki/L%C3%B6ffler%27s_syndrome "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=Loeffler%27s%20syndrome "DO"] synonym: "Loeffler's pneumonia" EXACT [] synonym: "Loffler's syndrome" EXACT [] xref: ICD10CM:J82.89 xref: NCI:C35301 is_a: DOID:1205 ! allergic disease is_a: DOID:5870 ! eosinophilic pneumonia created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:9504 name: benign mammary dysplasia def: "A breast benign neoplasm that encompasses a range of conditions in which there is marked change in the breast tissue. (DO)" [https://www.cancer.gov/publications/dictionaries/cancer-terms/def/mammary-dysplasia "DO"] xref: ICD9CM:610.8 is_a: DOID:0060082 ! breast benign neoplasm created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9505 name: cannabis abuse def: "A substance abuse that involves the recurring use of cannabis despite negative consequences. (DO)" [http://en.wikipedia.org/wiki/Cannabis_%28drug%29 "DO"] synonym: "cannabis related disorder" EXACT [] synonym: "cannabis use disorder" EXACT [] synonym: "Hashish Abuse" EXACT [] synonym: "marihuana abuse" EXACT [] synonym: "marijuana abuse" EXACT [] xref: EFO:0007191 xref: ICD10CM:F12 xref: ICD10CM:F12.1 xref: ICD9CM:305.2 xref: MESH:D002189 is_a: DOID:302 ! substance abuse [Term] id: DOID:9506 name: acute ethmoiditis def: "A ethmoid sinusitis which lasts for less than 4 weeks. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] synonym: "acute ethmoidal sinus" EXACT [] synonym: "acute ethmoidal sinusitis" EXACT [] synonym: "acute ethmoid sinusitis" EXACT [] xref: ICD10CM:J01.2 xref: ICD9CM:461.2 is_a: DOID:9507 ! ethmoid sinusitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:9507 name: ethmoid sinusitis def: "A sinusitis which involves infection of ethmoid sinuses that causes pain or pressure behind and between the eyes, tearing, and headache over the forehead. (DO)" [http://en.wikipedia.org/wiki/sinusitis "DO", http://www.merck.com/mmhe/sec19/ch221/ch221i.html "DO"] synonym: "ethmoidal sinusitides" EXACT [] synonym: "ethmoidal sinusitis" EXACT [] synonym: "ethmoiditis" EXACT [] synonym: "ethmoid sinusitides" EXACT [] xref: EFO:0007264 xref: MESH:D015521 xref: NCI:C34597 is_a: DOID:0050127 ! sinusitis [Term] id: DOID:9512 name: simple chronic conjunctivitis xref: ICD10CM:H10.42 xref: ICD9CM:372.11 xref: RDO:9003812 is_a: DOID:2475 ! chronic conjunctivitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:9513 name: plasma cell leukemia def: "A plasma cell neoplasm that is characterized by the presence of a circulating clonal plasma cell count that exceeds 2x10^9/L or is 20% of the leukocyte differential count. (DO)" [https://en.wikipedia.org/wiki/Plasma_cell_leukemia "DO", https://rarediseases.info.nih.gov/diseases/9373/index "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349791/ "DO"] synonym: "EFO:0006475" EXACT [] synonym: "plasma cell leukaemia" EXACT [] synonym: "plasma cell leukemias" EXACT [] synonym: "plasmacytic leukaemia" EXACT [] synonym: "plasmacytic leukemia" EXACT [] synonym: "plasmacytic leukemias" EXACT [] xref: EFO:0006475 xref: GARD:9373 xref: ICD10CM:C90.1 xref: ICD9CM:203.1 xref: ICDO:9733/3 xref: MESH:D007952 xref: NCI:C3180 is_a: DOID:9538 ! multiple myeloma [Term] id: DOID:952 name: acute dacryoadenitis xref: ICD10CM:H04.01 xref: ICD9CM:375.01 is_a: DOID:950 ! dacryoadenitis created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9521 name: Laron syndrome alt_id: MIM:262500 def: "A syndrome characterized by marked short stature with normal or high serum growth hormone and low serum insulin-like growth factor-1 levels that has_material_basis_in homozygous or compound heterozygous mutation in GHR on chromosome 5p13-p12. (DO)" [https://ghr.nlm.nih.gov/condition/laron-syndrome "DO", https://www.ncbi.nlm.nih.gov/pubmed/8488849 "DO"] synonym: "GROWTH HORMONE INSENSITIVITY SYNDROME" EXACT [] synonym: "growth hormone receptor defect" EXACT [] synonym: "Growth Hormone Receptor Deficiency" EXACT [] synonym: "Laron Dwarfism" EXACT [] synonym: "Laron syndrome with elevated serum GH-binding protein" NARROW [] synonym: "LARON SYNDROME WITH UNDETECTABLE SERUM GH-BINDING PROTEIN" NARROW [] synonym: "Laron Type Dwarfism I" EXACT [] synonym: "Laron-type isolated somatotropin defect" EXACT [] synonym: "pituitary dwarfism II" EXACT [] synonym: "primary GH resistance" EXACT [] synonym: "primary growth hormone resistance" EXACT [] synonym: "severe GH insensitivity" EXACT [] xref: GARD:6859 xref: ICD10CM:E34.321 xref: MESH:D046150 xref: NCI:C130994 xref: ORDO:633 is_a: DOID:0050737 ! autosomal recessive disease is_a: DOID:225 ! syndrome is_a: DOID:9007661 ! Dwarfism [Term] id: DOID:9531 name: latent syphilis def: "A syphilis that is characterized as having serologic proof of infection without signs or symptoms of disease. (DO)" [http://en.wikipedia.org/wiki/Syphilis#Latent_syphilis "DO"] synonym: "latent stage syphili" EXACT [] synonym: "latent stage syphilis" EXACT [] xref: EFO:0007340 xref: ICD10CM:A53.0 xref: ICD9CM:097.1 xref: MESH:D013592 xref: NCI:C35056 is_a: DOID:4166 ! syphilis [Term] id: DOID:9534 name: tuberculous pneumothorax def: "A pneumothorax in which air enters into the pleural cavity. (DO)" [http://books.google.com/books?id=9QcpAAAAYAAJ&pg=PA492&lpg#v=onepage&q=&f=false "DO"] xref: ICD10CM:A15.0 xref: ICD9CM:011.7 xref: RDO:9003183 is_a: DOID:1673 ! pneumothorax created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:9537 name: Lassa fever def: "A viral infectious disease that results_in infection, has_material_basis_in Mammarenavirus lassaense, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding. (DO)" [http://www.cdc.gov/ncidod/dvrd/spb/mnpages/dispages/lassaf.htm "DO"] synonym: "Lassa fevers" EXACT [] xref: EFO:0007338 xref: ICD10CM:A96.2 xref: MESH:D007835 xref: NCI:C128418 is_a: DOID:3944 ! Arenaviridae infectious disease is_a: DOID:9007401 ! Viral Hemorrhagic Fevers [Term] id: DOID:9538 name: multiple myeloma alt_id: MIM:254500 def: "A myeloid neoplasm that is located_in the plasma cells in bone marrow. (DO)" [http://en.wikipedia.org/wiki/Multiple_myeloma "DO", http://www.cancer.gov/dictionary?CdrID=411384 "DO"] synonym: "AL" NARROW [] synonym: "AL AMYLOIDOSIS" NARROW [] synonym: "AMYLOIDOSIS, SYSTEMIC" NARROW [] synonym: "EFO:0001378" EXACT [] synonym: "Kahler disease" EXACT [] synonym: "Multiple Myeloma, Resistance To" RELATED [] synonym: "multiple myelomas" EXACT [] synonym: "Multiple Myeloma, t(11;14) Type, Susceptibility To" RELATED [] synonym: "Multiple Myeloma, Translocation 11,14 Type" NARROW [] synonym: "myeloma" EXACT [] synonym: "Myelomatoses" EXACT [] synonym: "Myelomatosis" EXACT [] synonym: "plasma cell myeloma" EXACT [] synonym: "plasma cell myelomas" EXACT [] xref: EFO:0001378 xref: GARD:7108 xref: ICD10CM:C90.0 xref: ICD9CM:203.0 xref: MESH:D009101 xref: NCI:C125416 xref: NCI:C125417 xref: NCI:C3242 xref: ORDO:29073 is_a: DOID:0060704 ! lymphoproliferative syndrome is_a: DOID:0070004 ! myeloid neoplasm is_a: DOID:484 ! vascular hemostatic disease is_a: DOID:6536 ! plasma cell neoplasm is_a: DOID:9003571 ! Paraproteinemias [Term] id: DOID:9540 name: vascular skin disease def: "Skin diseases affecting or involving the cutaneous blood vessels and generally manifested as inflammation, swelling, erythema, or necrosis in the affected area." [MESH:D017445] synonym: "vascular skin diseases" EXACT [] xref: ICD9CM:709.1 xref: MESH:D017445 xref: NCI:C35254 is_a: DOID:178 ! vascular disease is_a: DOID:37 ! skin disease [Term] id: DOID:9541 name: osteosclerotic myeloma is_a: DOID:9538 ! multiple myeloma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9544 name: refractory plasma cell neoplasm xref: NCI:C7024 xref: NCI:C7813 is_a: DOID:712 ! refractory hematologic cancer is_a: DOID:9538 ! multiple myeloma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9547 name: non-secretory myeloma is_a: DOID:9538 ! multiple myeloma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9550 name: indolent plasma cell myeloma def: "A multiple myeloma that is characterized by M protein in serum and/or urine and evidence of organ damage related the plasma cell neoplasm. (DO)" [https://seer.cancer.gov/seertools/hemelymph/51f6cf5ae3e27c3994bd54aa/ "DO"] synonym: "indolent myeloma" EXACT [] xref: NCI:C7150 is_a: DOID:9538 ! multiple myeloma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9551 name: smoldering myeloma def: "A multiple myeloma that is a slow growing type of myeloma in which abnormal plasma cells results_in too much of a single type of monoclonal antibody. (DO)" [http://www.cancer.gov/dictionary/?CdrID=413932 "DO"] synonym: "asymptomatic myeloma" EXACT [] synonym: "asymptomatic plasma cell myeloma" EXACT [] synonym: "EFO:0003073" EXACT [] synonym: "smoldering multiple myeloma" EXACT [] synonym: "smoldering plasma cell myeloma" EXACT [] xref: EFO:0003073 xref: RDO:9002156 is_a: DOID:9538 ! multiple myeloma created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9553 name: adrenal gland disease def: "An endocrine system disease that is located_in the adrenal gland. (DO)" [http://en.wikipedia.org/wiki/Adrenal_gland_disease "DO"] synonym: "adrenal gland diseases" EXACT [] xref: EFO:0005539 xref: ICD10CM:E27.9 xref: ICD9CM:255.9 xref: MESH:D000307 xref: NCI:C26690 is_a: DOID:28 ! endocrine system disease [Term] id: DOID:956 name: peripheral nerve schwannoma xref: NCI:C41430 is_a: DOID:3192 ! neurilemmoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9561 name: nasopharyngeal disease def: "Pathological processes involving the NASOPHARYNX." [MESH:D009302] synonym: "Diseases of Nasopharynx" EXACT [] synonym: "nasopharyngeal diseases" EXACT [] synonym: "Nasopharynx Disease" EXACT [] synonym: "Nasopharynx Diseases" EXACT [] xref: MESH:D009302 xref: NCI:C35723 is_a: DOID:9004130 ! Pharyngeal Diseases is_a: DOID:974 ! upper respiratory tract disease [Term] id: DOID:9562 name: primary ciliary dyskinesia def: "A ciliopathy that is characterized by impaired function of the cilia lining the respiratory tract (lower and upper, sinuses, Eustachian tube, middle ear) and fallopian tube. (DO)" [http://en.wikipedia.org/wiki/Primary_ciliary_dyskinesia "DO"] synonym: "immotile ciliary syndrome" EXACT [] xref: GARD:4484 xref: MIM:PS244400 xref: NCI:C84638 xref: ORDO:244 is_a: DOID:9001591 ! Ciliary Motility Disorders created_by: rgd creation_date: 2017-09-20T00:00:00Z [Term] id: DOID:9563 name: bronchiectasis def: "A bronchial disease that is a chronic inflammatory condition of one or more bronchi or bronchioles marked by dilatation and loss of elasticity of the walls resulting from damage to the airway wall leading to the formation of small sacs on the bronchial wall and impairment of cilia mobility in the lung. Inflammation of the bronchial wall increases mucus secretion which serves as a breeding ground for bacteria. Bronchiectasis is caused by repeated respiratory infections, immune deficiency disorders, hereditary disorders (cystic fibrosis or primary ciliary dyskinesia), mechanical factors (inhaled object or a lung tumor) or inhaling toxic substances. (DO)" [http://www.merck.com/mmhe/sec04/ch047/ch047a.html "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=bronchiectasis "DO"] synonym: "bronchiectases" EXACT [] synonym: "cystic fibrosis-like syndrome" RELATED [] synonym: "Polynesian bronchiectasis" EXACT [] xref: ICD10CM:J47 xref: ICD10CM:J47.9 xref: ICD9CM:494 xref: MESH:D001987 xref: MIM:PS211400 xref: MONDO:0004822 xref: NCI:C84475 xref: ORDO:60033 is_a: DOID:1176 ! bronchial disease [Term] id: DOID:9565 name: dextrocardia def: "A congenital defect in which the heart is located on the right side of the THORAX instead of on the left side (levocardia, the normal position). When dextrocardia is accompanied with inverted HEART ATRIA, a right-sided STOMACH, and a left-sided LIVER, the combination is called dextrocardia with SITUS INVERSUS. Dextrocardia may adversely affect other thoracic organs." [MESH:D003914] synonym: "Dextrocardias" EXACT [] synonym: "heart predominantly in right hemithorax" EXACT [] xref: GARD:1827 xref: ICD10CM:Q24.0 xref: MESH:D003914 xref: NCI:C84669 is_a: DOID:1682 ! congenital heart disease is_a: DOID:758 ! situs inversus [Term] id: DOID:9574 name: choanal atresia def: "A congenital abnormality that is characterized by a blocked CHOANAE, the opening between the nose and the NASOPHARYNX. Blockage can be unilateral or bilateral; bony or membranous." [MESH:D002754] synonym: "atresia of nares" EXACT [] synonym: "Choanal Atresias" EXACT [] synonym: "imperforate nares" EXACT [] xref: ICD10CM:Q30.0 xref: ICD9CM:748.0 xref: MESH:D002754 is_a: DOID:2163 ! nasal cavity disease is_a: DOID:9007870 ! Respiratory System Abnormalities [Term] id: DOID:9577 name: neonatal candidiasis def: "A candidiasis that involves fungal infection in neonates caused by Candida species. Low birthweight and age, prolonged intravascular catheterization and the use of antibiotic drugs are the principle predisposing conditions for systemic candidiasis in neonates. (DO)" [http://mycology.adelaide.edu.au/Mycoses/Cutaneous/Candidiasis/ "DO"] synonym: "neonatal candida infection" EXACT [] synonym: "neonatal monilia infection" EXACT [] synonym: "neonatal moniliasis" EXACT [] xref: ICD10CM:P37.5 xref: ICD9CM:771.7 xref: NCI:C116810 is_a: DOID:1508 ! candidiasis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:9584 name: Venezuelan equine encephalitis def: "A viral infectious disease that results_in inflammation located_in brain of horses and humans, has_material_basis_in Venezuelan equine encephalitis virus, which is transmitted_by Culex mosquitoes. The infection has_symptom fever, has_symptom chills, has_symptom malaise, has_symptom severe headache, has_symptom photophobia, and has_symptom myalgia in the legs and lumbosacral region. (DO)" [http://www.cdc.gov/ncidod/dvbid/arbor/arbdet.htm "DO"] synonym: "Venezuelan equine encephalomyelitides" EXACT [] synonym: "Venezuelan equine fever" EXACT [] xref: EFO:0007534 xref: GARD:6355 xref: ICD10CM:A92.2 xref: ICD9CM:066.2 xref: MESH:D004685 xref: NCI:C35121 is_a: DOID:9002578 ! Equine Encephalomyelitis [Term] id: DOID:9588 name: encephalitis def: "A brain disease that is characterized as an acute inflammation of the brain with flu-like symptoms. (DO)" [http://en.wikipedia.org/wiki/Encephalitis "DO", http://www.mayoclinic.org/diseases-conditions/encephalitis/basics/definition/con-20021917 "DO", http://www.nlm.nih.gov/medlineplus/encephalitis.html "DO"] synonym: "Brain Inflammation" EXACT [] synonym: "brain inflammations" EXACT [] synonym: "noninfective encephalitis" NARROW [] synonym: "Rasmussen's Syndrome" EXACT [] synonym: "Rasmussen Encephalitis" EXACT [] synonym: "Rasmussen syndrome" EXACT [] xref: EFO:0020926 xref: MESH:D004660 xref: NCI:C26760 is_a: DOID:9005372 ! Inflammation is_a: DOID:936 ! brain disease [Term] id: DOID:9589 name: urethral calculus synonym: "urethral stone" EXACT [] xref: ICD10CM:N21.1 xref: ICD9CM:594.2 xref: NCI:C26995 is_a: DOID:732 ! urethral disease is_a: DOID:9590 ! lower urinary tract calculus created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:959 name: esophagus squamous cell papilloma xref: NCI:C5344 xref: RDO:9003799 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:139 ! squamous cell papilloma is_a: DOID:9000117 ! Esophageal Neoplasms created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:9590 name: lower urinary tract calculus def: "A urinary system disease that is located_in the lower urinary tract and is characterized by the formation of a stone. (DO)" [http://en.wikipedia.org/wiki/Calculus_%28medicine%29 "DO"] xref: ICD10CM:N21 xref: ICD10CM:N21.9 xref: ICD9CM:594 xref: RDO:9004849 is_a: DOID:9003311 ! Urinary Calculi created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:9597 name: Krukenberg carcinoma def: "An ovary epithelial cancer that is a metastatic signet-ring cell carcinoma, which spreads to the ovary from gastric tissue. (DO)" [https://en.wikipedia.org/wiki/Krukenberg_tumor "DO", https://www.ncbi.nlm.nih.gov/books/NBK482284/ "DO", https://www.ncbi.nlm.nih.gov/pubmed/29113663 "DO", https://www.ncbi.nlm.nih.gov/pubmed/29489206 "DO"] synonym: "EFO:1000316" EXACT [] synonym: "Krukenberg's tumor" EXACT [] synonym: "Krukenberg neoplasm" EXACT [] synonym: "Krukenbergs Tumor" EXACT [] synonym: "Krukenberg tumor" EXACT [] xref: EFO:1000316 xref: GARD:8627 xref: MESH:D007725 xref: NCI:C3153 is_a: DOID:2152 ! ovary epithelial cancer is_a: DOID:3493 ! signet ring cell adenocarcinoma [Term] id: DOID:9598 name: fasciitis def: "A connective tissue disease characterized by inflammation located in the fascia. (DO)" [https://en.wikipedia.org/wiki/Fasciitis "DO", https://www.mayoclinic.org/diseases-conditions/plantar-fasciitis/symptoms-causes/syc-20354846 "DO"] synonym: "Fasciitides" EXACT [] synonym: "Fascitides" EXACT [] synonym: "Fascitis" EXACT [] xref: ICD10CM:M72.9 xref: ICD9CM:729.4 xref: MESH:D005208 xref: NCI:C50559 is_a: DOID:17 ! musculoskeletal system disease is_a: DOID:65 ! connective tissue disease is_a: DOID:9005372 ! Inflammation [Term] id: DOID:9599 name: proliferative fasciitis xref: NCI:C4728 xref: RDO:9003835 is_a: DOID:9598 ! fasciitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:96 name: staphyloenterotoxemia def: "A primary bacterial infectious disease that results_in infection located_in intestine caused by eating food contaminated with enterotoxins produced by bacteria, has_material_basis_in Staphylococcus aureus. The infection has_symptom diarrhea, has_symptom vomiting, has_symptom nausea, has_symptom cramps, and has_symptom weakness. (DO)" [https://pubmed.ncbi.nlm.nih.gov/22091892/ "DO"] synonym: "Staphylococcal food poisoning" EXACT [] synonym: "staphylococcal food poisonings" EXACT [] synonym: "staphylococcal toxaemia due to food" EXACT [] synonym: "staphyloenterotoxicosis" EXACT [] xref: EFO:0007497 xref: ICD10CM:A05.0 xref: ICD9CM:005.0 xref: MESH:D013202 xref: NCI:C35037 is_a: DOID:0050338 ! primary bacterial infectious disease is_a: DOID:9006436 ! Foodborne Diseases is_a: DOID:9008885 ! Staphylococcal Infections [Term] id: DOID:960 name: esophagus leiomyoma xref: NCI:C3866 xref: RDO:9003399 is_a: DOID:0050624 ! gastrointestinal system benign neoplasm is_a: DOID:127 ! leiomyoma is_a: DOID:9000117 ! Esophageal Neoplasms created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9600 name: plantar fasciitis def: "Inflammation of the plantar fascia (aponeurosis) on the bottom of the foot causing heel pain. The etiology of plantar fasciitis remains controversial but is likely to involve a biomechanical imbalance. Though often presenting along with HEEL SPUR, they do not appear to be causally related." [MESH:D036981] synonym: "Chronic Plantar Fasciitis" EXACT [] synonym: "Heel Spur Syndrome" EXACT [] synonym: "Policeman's Heel" EXACT [] synonym: "Policeman's Heels" EXACT [] synonym: "Policeman Heel" EXACT [] synonym: "Policemans Heel" EXACT [] xref: EFO:1001909 xref: MESH:D036981 is_a: DOID:9007310 ! Foot Diseases is_a: DOID:9598 ! fasciitis [Term] id: DOID:9601 name: ischemic fasciitis synonym: "atypical decubital fibroplasia" EXACT [] xref: NCI:C6483 xref: RDO:9003839 is_a: DOID:9598 ! fasciitis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:9602 name: necrotizing fasciitis def: "A fulminating bacterial infection of the deep layers of the skin and FASCIA. It can be caused by many different organisms, with STREPTOCOCCUS PYOGENES being the most common." [MESH:D019115] synonym: "Necrotizing Fasciitides" EXACT [] synonym: "Necrotizing Fascitides" EXACT [] synonym: "Necrotizing Fascitis" EXACT [] xref: GARD:6454 xref: ICD10CM:M72.6 xref: ICD9CM:728.86 xref: MESH:D019115 xref: NCI:C84916 xref: RDO:0007257 is_a: DOID:9003209 ! Bacterial Skin Diseases is_a: DOID:9598 ! fasciitis [Term] id: DOID:9603 name: intravascular fasciitis synonym: "intravascular pseudosarcomatous fasciitis" EXACT [] xref: NCI:C4729 xref: RDO:9003842 is_a: DOID:7327 ! pseudosarcomatous fibromatosis created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:961 name: neurofibroma of the esophagus xref: NCI:C5704 is_a: DOID:5041 ! esophageal cancer is_a: DOID:962 ! neurofibroma created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:9617 name: orthostatic proteinuria synonym: "Postural albuminuria" EXACT [SNOMEDCT_2005_07_31:77872002] xref: ICD10CM:R80.2 xref: ICD9CM:593.6 xref: RDO:9003107 is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:962 name: neurofibroma def: "A moderately firm, benign, encapsulated tumor resulting from proliferation of SCHWANN CELLS and FIBROBLASTS that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of NEUROFIBROMATOSIS 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)" [MESH:D009455] synonym: "dermal neurofibroma" NARROW [] synonym: "Neurofibromas" EXACT [] xref: EFO:0000397 xref: EFO:0000622 xref: GARD:7191 xref: ICDO:9540/0 xref: MESH:D009455 xref: NCI:C3272 xref: RDO:0006211 is_a: DOID:3193 ! peripheral nerve sheath neoplasm is_a: DOID:9004217 ! Nerve Sheath Neoplasms [Term] id: DOID:9620 name: vesicoureteral reflux alt_id: MIM:193000 alt_id: MIM:614317 def: "A ureteral disease characterized by backward flow of urine from the urinary bladder into the ureter. (DO)" [http://en.wikipedia.org/wiki/Vesicoureteral_reflux "DO", http://ghr.nlm.nih.gov/glossary=vesicoureteralreflux "DO", http://www.mayoclinic.org/diseases-conditions/vesicoureteral-reflux/basics/definition/con-20031544?_ga=1.233953949.2017809229.1415219956 "DO"] synonym: "vesico-ureteral reflux" EXACT [] synonym: "vesicoureteral reflux 1" EXACT [] synonym: "VUR" EXACT [] synonym: "VUR1" EXACT [] xref: EFO:0007536 xref: ICD10CM:N13.7 xref: ICD10CM:N13.70 xref: ICD9CM:593.7 xref: MESH:D014718 xref: MIM:PS193000 xref: NCI:C84467 xref: ORDO:289365 is_a: DOID:1426 ! ureteral disease is_a: DOID:365 ! bladder disease [Term] id: DOID:9621 name: non-congenital cyst of kidney xref: ICD10CM:N28.1 xref: ICD9CM:593.2 is_a: DOID:0080015 ! physical disorder is_a: DOID:2975 ! cystic kidney disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9622 name: kidney hypertrophy xref: ICD10CM:N28.81 xref: ICD9CM:593.1 xref: NCI:C122991 xref: RDO:9004665 is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:963 name: episodic ataxia def: "A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. (DO)" [http://en.wikipedia.org/wiki/Episodic_ataxia "DO", http://ghr.nlm.nih.gov/condition/episodic-ataxia "DO"] synonym: "HEREDITARY EPISODIC ATAXIA" EXACT [] xref: EFO:1000638 xref: GARD:9851 xref: MESH:C580065 xref: MIM:PS160120 xref: ORDO:211062 is_a: DOID:0050951 ! hereditary ataxia [Term] id: DOID:9631 name: Pelger-Huet anomaly alt_id: MIM:169400 def: "A hematopoietic system disease characterized by white blood cells with unusually shaped nuclei that has_material_basis_in heterozygous mutation in LBR on chromosome 1q42.12. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/12118250 "DO"] synonym: "ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities" EXACT [] synonym: "Pelger Huet nuclear anomaly" EXACT [] synonym: "Pelger Huët Anomaly" EXACT [] synonym: "Pelger Huët Nuclear Anomaly" EXACT [] synonym: "PHA" EXACT [] synonym: "pseudo Pelger Huet anomaly" EXACT [] synonym: "pseudo Pelger Huet nuclear anomaly" EXACT [] synonym: "pseudo Pelger Huët anomaly" EXACT [] xref: EFO:1001093 xref: GARD:9148 xref: MESH:D010381 xref: NCI:C85002 is_a: DOID:0050736 ! autosomal dominant disease is_a: DOID:9500 ! leukocyte disease [Term] id: DOID:9637 name: stomatitis def: "A mouth disease that is characterized by inflammation of the mouth and lips. (DO)" [https://en.wikipedia.org/wiki/Stomatitis "DO"] synonym: "Oral Mucositides" EXACT [] synonym: "Oral Mucositis" EXACT [] synonym: "Oromucositides" EXACT [] synonym: "Oromucositis" EXACT [] synonym: "Stomatitides" EXACT [] xref: EFO:0009688 xref: EFO:1001904 xref: MESH:D013280 xref: NCI:C26887 is_a: DOID:403 ! mouth disease is_a: DOID:9297 ! lip disease [Term] id: DOID:9640 name: sarcocystosis def: "A coccidiosis that involves infection of the intestine and muscles of humans and animals caused by an intracellular protozoan parasite of genus Sarcocystis. The symptoms include mild fever, diarrhea, chills, vomiting, muscle swelling, erythema, muscle tenderness,cough, arthralgia, transient pruritic rashes, headache, malaise and lymphadenopathy. (DO)" [http://www.cfsph.iastate.edu/Factsheets/pdfs/sarcocystosis.pdf "DO", http://www.dpd.cdc.gov/DPDx/HTML/Sarcocystosis.htm "DO"] synonym: "sarcocystoses" EXACT [] synonym: "sarcosporidioses" EXACT [] synonym: "sarcosporidiosis" EXACT [] xref: EFO:0007476 xref: ICD9CM:136.5 xref: MESH:D012523 xref: ORDO:54368 is_a: DOID:2113 ! coccidiosis [Term] id: DOID:9643 name: babesiosis def: "A parasitic protozoa infectious disease that has_symptom mild fevers and has_symptom anemia described as malaria-like symptoms caused by a protozoan of genus Babesia, which reproduce in red blood cells and cause hemolytic anemia. They are transmitted by Ixodid ticks or by blood transfusion. Babesiosis is a zoonotic disease. (DO)" [http://en.wikipedia.org/wiki/Babesiosis "DO"] synonym: "Babesia Parasite Infection" EXACT [] synonym: "babesia parasite infections" EXACT [] synonym: "Babesiases" EXACT [] synonym: "Babesiasis" EXACT [] synonym: "Babesioses" EXACT [] synonym: "Human Babesioses" EXACT [] synonym: "Human Babesiosis" EXACT [] synonym: "infection by babesia" EXACT [] synonym: "Piroplasmoses" EXACT [] synonym: "piroplasmosis" EXACT [] xref: EFO:0007162 xref: GARD:5878 xref: ICD10CM:B60.0 xref: ICD9CM:088.82 xref: MESH:D001404 xref: NCI:C84581 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004157 ! Protozoan Infections, Animal [Term] id: DOID:9649 name: congenital nystagmus def: "A pathologic nystagmus, present at birth, characterized by involuntary, rhythmic eye movements; oscillations are usually horizontal in direction. (DO)" [http://en.wikipedia.org/wiki/Nystagmus "DO", http://ghr.nlm.nih.gov/glossary=nystagmus "DO", http://www.merckmanuals.com/professional/ear_nose_and_throat_disorders/approach_to_the_patient_with_ear_problems/evaluation_of_ear_disorders.html#v942669 "DO"] synonym: "infantile nystagmus" EXACT [] xref: EFO:0007217 xref: ICD10CM:H55.01 xref: ICD9CM:379.51 xref: MESH:D020417 xref: MIM:PS310700 xref: ORDO:651 is_a: DOID:0080015 ! physical disorder is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9650 ! pathologic nystagmus [Term] id: DOID:9650 name: pathologic nystagmus def: "Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)" [MESH:D009759] synonym: "conjugate nystagmus" EXACT [] synonym: "Convergence Nystagmus" EXACT [] synonym: "Fatigable Positional Nystagmus" EXACT [] synonym: "Horizontal Nystagmus" EXACT [] synonym: "Jerk Nystagmus" EXACT [] synonym: "Multidirectional Nystagmus" EXACT [] synonym: "Non Fatigable Positional Nystagmus" EXACT [] synonym: "Nystagmus" EXACT [] synonym: "Pendular Nystagmus" EXACT [] synonym: "Periodic Alternating Nystagmus" EXACT [] synonym: "Permanent Nystagmus" EXACT [] synonym: "Rebound Nystagmus" EXACT [] synonym: "Retraction Nystagmus" EXACT [] synonym: "Rotary Nystagmus" EXACT [] synonym: "Rotational Nystagmus" EXACT [] synonym: "See Saw Nystagmus" EXACT [] synonym: "Symptomatic Nystagmus" EXACT [] synonym: "Temporary Nystagmus" EXACT [] synonym: "Unidirectional Nystagmus" EXACT [] synonym: "vertical nystagmus" EXACT [] xref: ICD10CM:H55.0 xref: ICD9CM:379.50 xref: MESH:D009759 xref: NCI:C3282 is_a: DOID:1279 ! ocular motility disease [Term] id: DOID:9651 name: systolic heart failure def: "Heart failure caused by abnormal myocardial contraction during SYSTOLE leading to defective cardiac emptying." [MESH:D054143] synonym: "Systolic Heart Failures" EXACT [] xref: EFO:1001207 xref: ICD10CM:I50.20 xref: ICD9CM:428.2 xref: MESH:D054143 xref: RDO:0007661 is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:9655 name: oral mucosa leukoplakia def: "A mouth disease that is characterized by a white patch or plaque that develops in the oral cavity and is strongly associated with smoking. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK442013/ "DO"] synonym: "Keratosis, Oral" EXACT [] synonym: "leukoplakia of tongue" NARROW [] synonym: "mouth mucous membrane leukoplakia" EXACT [] synonym: "Oral Leukokeratoses" EXACT [] synonym: "Oral Leukokeratosis" EXACT [] synonym: "Oral Leukoplakia" EXACT [] synonym: "Oral Leukoplakias" EXACT [] xref: EFO:0006884 xref: EFO:0006885 xref: ICD10CM:K13.2 xref: ICD10CM:K13.21 xref: ICD9CM:528.6 xref: MESH:D007972 xref: NCI:C3187 is_a: DOID:403 ! mouth disease is_a: DOID:9005065 ! Leukoplakia is_a: DOID:9007364 ! Mouth Neoplasms [Term] id: DOID:9663 name: aphthous stomatitis def: "A stomatitis characterized by the repeated formation of benign and non-contagious mouth ulcers. (DO)" [http://en.wikipedia.org/wiki/Aphthous_stomatitis "DO"] synonym: "aphtha" EXACT [] synonym: "Aphthae" EXACT [] synonym: "Aphthous Stomatitides" EXACT [] synonym: "Aphthous Ulcer" EXACT [] synonym: "aphthous ulceration" EXACT [] synonym: "Aphthous Ulcers" EXACT [] synonym: "Canker Sore" EXACT [] synonym: "Canker Sores" EXACT [] synonym: "oral aphthae" EXACT [] synonym: "oral aphthous ulcer" EXACT [] synonym: "Periadenitis Mucosa Necrotica Recurrens" EXACT [] xref: EFO:0003938 xref: GARD:5834 xref: ICD9CM:528.2 xref: MESH:D013281 xref: NCI:C62546 is_a: DOID:9637 ! stomatitis [Term] id: DOID:9667 name: placental abruption def: "A placenta disease that is characterized by separation of the placental lining from the uterus of the mother. (DO)" [http://en.wikipedia.org/wiki/Abruptio_placentae "DO"] synonym: "abruptio placenta" EXACT [] synonym: "abruptio placentae" EXACT [] synonym: "placental abruptions" EXACT [] xref: EFO:1001754 xref: ICD10CM:O20.0 xref: ICD9CM:640.0 xref: MESH:D000037 xref: NCI:C112857 is_a: DOID:780 ! placenta disease is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:9669 name: senile cataract def: "A cataract that is characterized by thickening and loss of transparency of the lens with age progression, caused by a multifactorial etiology related to aging. (DO)" [https://eyewiki.aao.org/Cataract "DO"] synonym: "age-related cataract" EXACT [] xref: EFO:0006311 xref: ICD10CM:H25 xref: ICD9CM:366.1 xref: NCI:C35012 xref: RDO:9000046 is_a: DOID:83 ! cataract is_a: DOID:9007801 ! Diseases of the Aged [Term] id: DOID:9672 name: noma def: "A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)" [MESH:D009625] synonym: "Cancrum Oris" EXACT [] synonym: "Gangrenous Stomatitides" EXACT [] synonym: "Gangrenous Stomatitis" EXACT [] synonym: "Nomas" EXACT [] xref: EFO:1001063 xref: GARD:4001 xref: ICD10CM:A69.0 xref: ICD9CM:528.1 xref: MESH:D009625 xref: NCI:C34852 is_a: DOID:403 ! mouth disease is_a: DOID:9673 ! ulcerative stomatitis [Term] id: DOID:9673 name: ulcerative stomatitis synonym: "ulcerative stomatitides" EXACT [] xref: NCI:C35039 is_a: DOID:9637 ! stomatitis [Term] id: DOID:9675 name: pulmonary emphysema def: "A chronic obstructive pulmonary disease that is characterized by permanent enlargement of air spaces distal to the terminal bronchioles and the destruction of the alveolar walls. (DO)" [https://my.clevelandclinic.org/health/diseases/9370-emphysema "DO", https://www.cedars-sinai.org/health-library/diseases-and-conditions/p/pulmonary-emphysema.html "DO", https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=85&contentid=p01309 "DO"] synonym: "Centriacinar Emphysema" EXACT [] synonym: "centriacinar emphysemas" EXACT [] synonym: "Centrilobular Emphysema" EXACT [] synonym: "centrilobular emphysemas" EXACT [] synonym: "Focal Emphysema" EXACT [] synonym: "focal emphysemas" EXACT [] synonym: "Panacinar Emphysema" EXACT [] synonym: "Panacinar Emphysemas" EXACT [] synonym: "panlobular emphysema" EXACT [] synonym: "panlobular emphysemas" EXACT [] synonym: "pulmonary emphysemas" EXACT [] xref: EFO:0000464 xref: ICD10CM:J43.8 xref: ICD9CM:492.8 xref: MESH:D011656 is_a: DOID:3083 ! chronic obstructive pulmonary disease is_a: DOID:9002884 ! Emphysema [Term] id: DOID:9681 name: cervical incompetence def: "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term. (DO)" [http://en.wikipedia.org/wiki/Cervical_incompetence "DO"] synonym: "cervix incompetence" EXACT [] synonym: "Incompetent Cervix" EXACT [] synonym: "uterine cervical incompetence" EXACT [] xref: EFO:0007202 xref: ICD10CM:N88.3 xref: ICD9CM:622.5 xref: MESH:D002581 xref: NCI:C50607 is_a: DOID:2253 ! cervix disease is_a: DOID:9007479 ! Habitual Abortions [Term] id: DOID:9682 name: yellow fever def: "A viral infectious disease that results in infection, has_material_basis_in Yellow fever virus, which is transmitted by Aedes, transmitted by Haemagogus, or transmitted by Sabethes species of mosquitoes. The infection has symptom fever, has symptom muscle pain, has symptom backache, has symptom headache, has symptom shivers, has symptom loss of appetite, has symptom jaundice, and has symptom bleeding from the mouth, nose, eyes or stomach leading to vomitus containing blood. (DO)" [http://en.wikipedia.org/wiki/Yellow_fever "DO", http://www.who.int/mediacentre/factsheets/fs100/en/index.html "DO", https://www.cdc.gov/yellowfever/ "DO"] synonym: "jungle yellow fever" EXACT [] synonym: "sylvan yellow fever" EXACT [] synonym: "sylvatic yellow fever" EXACT [] synonym: "urban yellow fever" EXACT [] synonym: "Yellow Fevers" EXACT [] xref: GARD:7914 xref: ICD10CM:A95 xref: ICD9CM:060 xref: MESH:D015004 xref: NCI:C35547 is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers is_a: DOID:9007579 ! Arbovirus Infections [Term] id: DOID:9694 name: toxic myocarditis def: "An acute myocarditis that is characterized by an underlying toxin insult to the myocardium that induces acute inflammation. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/27574633 "DO"] xref: ICD9CM:422.93 is_a: DOID:3951 ! acute myocarditis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:9697 name: gonococcal keratitis xref: ICD10CM:A54.33 xref: ICD9CM:098.43 is_a: DOID:4677 ! keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:9698 name: gonococcal endophthalmia xref: ICD10CM:A54.39 xref: ICD9CM:098.42 is_a: DOID:4692 ! endophthalmitis is_a: DOID:9005473 ! Bacterial Eye Infections is_a: DOID:9008538 ! Neisseriaceae Infections created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9699 name: ophthalmia neonatorum def: "A bacterial conjuctivitis that is characterized by pain and tenderness in the eyeball and conjuctival discharge. (DO)" [https://en.wikipedia.org/wiki/Neonatal_conjunctivitis "DO"] synonym: "gonococcal conjunctivitis" EXACT [] synonym: "gonococcal ophthalmia neonatorum" EXACT [] synonym: "neonatal conjunctivitis" EXACT [] xref: GARD:2546 xref: ICD10CM:P39.1 xref: ICD9CM:771.6 xref: MESH:D009878 xref: NCI:C116815 is_a: DOID:7551 ! gonorrhea is_a: DOID:9003548 ! Infant, Newborn, Diseases is_a: DOID:9700 ! bacterial conjunctivitis [Term] id: DOID:970 name: tenosynovitis def: "An arthropathy that is characterized as an inflammation of the lining of the sheath that surrounds a tendon. (DO)" [https://medlineplus.gov/ency/article/001242.htm "DO"] synonym: "inflammation of tendon sheath" EXACT [] synonym: "tenosynovitides" EXACT [] xref: EFO:1001435 xref: MESH:D013717 is_a: DOID:381 ! arthropathy is_a: DOID:971 ! tendinitis [Term] id: DOID:9700 name: bacterial conjunctivitis def: "Purulent infections of the conjunctiva by several species of gram-negative, gram-positive, or acid-fast organisms. Some of the more commonly found genera causing conjunctival infections are Haemophilus, Streptococcus, Neisseria, and Chlamydia." [MESH:D003234] synonym: "bacterial conjunctivitides" EXACT [] synonym: "mucopurulent conjunctivitides" EXACT [] synonym: "Mucopurulent Conjunctivitis" EXACT [] synonym: "purulent conjunctivitides" EXACT [] synonym: "purulent conjunctivitis" EXACT [] xref: EFO:1000829 xref: ICD10CM:H10.0 xref: MESH:D003234 xref: NCI:C53656 is_a: DOID:6195 ! conjunctivitis is_a: DOID:9005473 ! Bacterial Eye Infections [Term] id: DOID:9709 name: rosacea conjunctivitis xref: ICD10CM:H10.82 xref: ICD9CM:372.31 xref: MONDO:0004856 is_a: DOID:6195 ! conjunctivitis is_a: DOID:8881 ! rosacea created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:971 name: tendinitis def: "Clinical syndrome describing overuse tendon injuries characterized by a combination of PAIN, diffuse or localized swelling, and impaired performance." [MESH:D052256] synonym: "tendinitides" EXACT [] synonym: "Tendinopathies" EXACT [] synonym: "Tendinopathy" EXACT [] synonym: "Tendinoses" EXACT [] synonym: "Tendinosis" EXACT [] synonym: "Tendonitides" EXACT [] synonym: "Tendonitis" EXACT [] synonym: "Tendonopathies" EXACT [] synonym: "Tendonopathy" EXACT [] synonym: "Tendonoses" EXACT [] synonym: "tendonosis" EXACT [] xref: EFO:1001434 xref: MESH:D052256 xref: NCI:C97141 is_a: DOID:0080000 ! muscular disease is_a: DOID:633 ! myositis is_a: DOID:9008331 ! Tendon Injuries [Term] id: DOID:9714 name: occlusion of gallbladder synonym: "obstruction of gallbladder" EXACT [] xref: ICD10CM:K82.0 xref: ICD9CM:575.2 xref: NCI:C78308 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:9717 name: hydrops of gallbladder xref: ICD10CM:K82.1 xref: ICD9CM:575.3 is_a: DOID:0060262 ! gallbladder disease [Term] id: DOID:9719 name: neovascular inflammatory vitreoretinopathy alt_id: MIM:193235 def: "A retinal and vitreous disease characterized by ocular inflammation, vascular dropout, large spots of hyperpigmentation, neovascularization of the peripheral and posterior retina, vitreous hemorrhage, and retinal detachment that has_material_basis_in heterozygous mutation in the CAPN5 gene on chromosome 11q13.5. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/23055945 "DO"] synonym: "ADNIV" EXACT [] synonym: "neovascular inflammatory vitreoretinopathies" EXACT [] synonym: "neovascular inflammatory vitreoretinopathy, autosomal dominant" EXACT [] synonym: "proliferative vitreoretinopathies" EXACT [] synonym: "proliferative vitreoretinopathy" EXACT [] synonym: "PVR" EXACT [] synonym: "retinitis proliferans" EXACT [] synonym: "VRNI" EXACT [] xref: EFO:1001129 xref: MESH:D018630 xref: ORDO:329211 is_a: DOID:5679 ! retinal disease is_a: DOID:9720 ! vitreous disease [Term] id: DOID:9720 name: vitreous disease def: "An eye and adnexa disease that is located in the vitreous of the eye. (DO)" [https://utswmed.org/conditions-treatments/vitreoretinal-diseases-and-surgery/ "DO"] synonym: "vitreous body disease" EXACT [] xref: EFO:0008624 xref: ICD10CM:H43.39 xref: ICD9CM:379.24 is_a: DOID:530 ! eyelid disease is_a: DOID:5614 ! eye disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9722 name: ophthalmia nodosa xref: ICD10CM:H16.24 xref: ICD9CM:360.14 xref: RDO:9002908 is_a: DOID:5614 ! eye disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9723 name: vitreous abscess def: "A vitreous disease that is characterized by an abscess located_in the vitreous of the eye. (DO)" [https://link.springer.com/chapter/10.1007/978-1-4614-7082-3_93 "DO"] xref: ICD9CM:360.04 is_a: DOID:9720 ! vitreous disease is_a: DOID:9724 ! purulent endophthalmitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9724 name: purulent endophthalmitis xref: ICD10CM:H44.0 xref: ICD9CM:360.0 xref: RDO:9003023 is_a: DOID:4692 ! endophthalmitis created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9726 name: vitreous detachment def: "Detachment of the corpus vitreum (VITREOUS BODY) from its normal attachments, especially the retina, due to shrinkage from degenerative or inflammatory conditions, trauma, myopia, or senility." [MESH:D020255] synonym: "Posterior Vitreous Detachment" EXACT [] synonym: "Posterior Vitreous Detachments" EXACT [] synonym: "Vitreous Detachments" EXACT [] xref: EFO:1001238 xref: MESH:D020255 xref: NCI:C50807 xref: RDO:0003342 is_a: DOID:5614 ! eye disease is_a: DOID:9720 ! vitreous disease [Term] id: DOID:9733 name: renal tuberculosis def: "An urogenital tuberculosis that results_in formation of granulomas located_in kidney. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4736345/ "DO"] synonym: "Renal Tuberculoses" EXACT [] synonym: "tuberculosis of kidney" EXACT [] xref: EFO:0007463 xref: ICD9CM:016.0 xref: MESH:D014398 xref: NCI:C123020 is_a: DOID:2149 ! urogenital tuberculosis is_a: DOID:557 ! kidney disease [Term] id: DOID:9735 name: acute allergic mucoid otitis media def: "A blue drum syndrome caused by an allergen. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/15301306 "DO"] xref: ICD9CM:381.05 is_a: DOID:1205 ! allergic disease is_a: DOID:9736 ! blue drum syndrome created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:9736 name: blue drum syndrome def: "A acute transudative otitis media involving thick, viscid and mucuslike fluid effusion due to which the drum appears blue in color. (DO)" [http://books.google.com/books?id=6qIZei3Da-wC&pg=PA84&lpg#v=onepage&q=&f=false "DO", http://books.google.com/books?id=zyvJKxRd-0EC&pg=PA127&lpg#v=onepage&q=&f=false "DO"] synonym: "acute mucoid otitis media" EXACT [] xref: ICD9CM:381.02 is_a: DOID:225 ! syndrome is_a: DOID:3697 ! acute transudative otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:9739 name: eustachian tube disease def: "A non-suppurative otitis media and eustachian tube disorder in which the tube is either too narrow or too wide. It can also be caused by nasal inflammation which leads to inflammatory swelling and obstruction of the eustachian tube, which, in turn, leads to increased negative pressure in the middle ear and improper ventilation. (DO)" [http://books.google.com/books?id=UQ-rOpK6oScC&pg=PA3&lpg#v=onepage&q=&f=false "DO"] xref: EFO:0009667 xref: ICD9CM:381.8 xref: RDO:9003837 is_a: DOID:11180 ! non-suppurative otitis media created_by: rgd creation_date: 2017-10-26T00:00:00Z [Term] id: DOID:974 name: upper respiratory tract disease def: "A respiratory system disease which involves the upper respiratory tract. (DO)" [http://en.wikipedia.org/wiki/Category\:Upper_respiratory_tract_diseases "DO", http://www.who.int/topics/respiratory_tract_diseases/en/ "DO"] synonym: "upper respiratory tract disorder" EXACT [] xref: ICD9CM:478.19 xref: MONDO:0004867 is_a: DOID:1579 ! respiratory system disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:9740 name: postcholecystectomy syndrome def: "A biliary tract disease characterized by the continuation or development of new gastrointestinal symptoms after cholecystectomy. (DO)" [https://en.wikipedia.org/wiki/Postcholecystectomy_syndrome "DO", https://pubmed.ncbi.nlm.nih.gov/29730174/ "DO", https://www.ncbi.nlm.nih.gov/books/NBK539902/ "DO"] synonym: "Post Cholecystectomy Syndrome" EXACT [] synonym: "Postcholecystectomy Syndromes" EXACT [] synonym: "post-cholecystectomy syndromes" EXACT [] synonym: "Post Choledochoduodenostomy Syndrome" EXACT [] synonym: "Postcholedochoduodenostomy Syndrome" EXACT [] synonym: "Post-Choledochoduodenostomy Syndromes" EXACT [] synonym: "Postcholedochoduodenostomy Syndromes" EXACT [] synonym: "Post Choledochojejunostomy Syndrome" EXACT [] synonym: "Postcholedochojejunostomy Syndrome" EXACT [] synonym: "Post-Choledochojejunostomy Syndromes" EXACT [] synonym: "Postcholedochojejunostomy Syndromes" EXACT [] synonym: "Post Choledochostomy Syndrome" EXACT [] synonym: "Postcholedochostomy Syndrome" EXACT [] synonym: "Post-Choledochostomy Syndromes" EXACT [] synonym: "postcholedochostomy syndromes" EXACT [] synonym: "sump syndrome" EXACT [] synonym: "sump syndromes" EXACT [] xref: EFO:1001117 xref: ICD10CM:K91.5 xref: ICD9CM:576.0 xref: MESH:D017562 is_a: DOID:225 ! syndrome is_a: DOID:9000790 ! Postoperative Complications is_a: DOID:9741 ! biliary tract disease [Term] id: DOID:9741 name: biliary tract disease def: "A hepatobiliary disease that is located_in the biliary tract. (DO)" [https://my.clevelandclinic.org/departments/digestive/medical-professionals/hepatology/gallbladder-biliary-tract-disease "DO", MESH:D001660] synonym: "biliary tract diseases" EXACT [] xref: EFO:0009534 xref: ICD10CM:K83.9 xref: ICD9CM:576.9 xref: MESH:D001660 is_a: DOID:3118 ! hepatobiliary disease [Term] id: DOID:9742 name: pelvic varices def: "A varicose veins that is located_in the pelvis. (DO)" [https://en.wikipedia.org/wiki/Varicose_veins "DO"] xref: ICD10CM:I86.2 xref: ICD9CM:456.5 is_a: DOID:799 ! varicose veins created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9743 name: diabetic neuropathy def: "Peripheral, autonomic, and cranial nerve disorders that are associated with DIABETES MELLITUS. These conditions usually result from diabetic microvascular injury involving small blood vessels that supply nerves (VASA NERVORUM). Relatively common conditions which may be associated with diabetic neuropathy include third nerve palsy (see OCULOMOTOR NERVE DISEASES); MONONEUROPATHY; mononeuropathy multiplex; diabetic amyotrophy; a painful POLYNEUROPATHY; autonomic neuropathy; and thoracoabdominal neuropathy. (From Adams et al., Principles of Neurology, 6th ed, p1325)" [MESH:D003929] synonym: "Asymmetric Diabetic Proximal Motor Neuropathy" EXACT [] synonym: "diabetic amyotrophies" EXACT [] synonym: "Diabetic Amyotrophy" EXACT [] synonym: "diabetic asymmetric polyneuropathies" EXACT [] synonym: "Diabetic Asymmetric Polyneuropathy" EXACT [] synonym: "diabetic mononeuropathies" EXACT [] synonym: "Diabetic Mononeuropathy" EXACT [] synonym: "Diabetic Mononeuropathy Simplex" EXACT [] synonym: "Diabetic Mononeuropathy Simplices" EXACT [] synonym: "Diabetic Neuralgia" EXACT [] synonym: "Diabetic Neuralgias" EXACT [] synonym: "diabetic neuropathies" EXACT [] synonym: "painful diabetic neuropathies" EXACT [] synonym: "painful diabetic neuropathy" EXACT [] synonym: "symmetric diabetic proximal motor neuropathy" EXACT [] xref: EFO:1000783 xref: ICD9CM:250.6 xref: MESH:D003929 xref: NCI:C26748 is_a: DOID:574 ! peripheral nervous system disease is_a: DOID:870 ! neuropathy is_a: DOID:9002661 ! Diabetes Complications [Term] id: DOID:9744 name: type 1 diabetes mellitus alt_id: MIM:222100 alt_id: MIM:300136 def: "A diabetes mellitus that is characterized by destruction of pancreatic beta cells resulting in absent or extremely low insulin production. (DO)" [http://en.wikipedia.org/wiki/Diabetes "DO", http://en.wikipedia.org/wiki/Diabetes_mellitus_type_1 "DO"] synonym: "autoimmune diabetes" EXACT [] synonym: "brittle diabetes mellitus" EXACT [] synonym: "DIABETES MELLITUS, TYPE 1, SUSCEPTIBILITY TO" RELATED [] synonym: "diabetes mellitus, type I" EXACT [] synonym: "IDDM" EXACT [] synonym: "IDDM1" EXACT [] synonym: "IDDMX" EXACT [] synonym: "idiopathic type 1 diabetes" NARROW [] synonym: "insulin-dependent diabetes mellitus" EXACT [] synonym: "Insulin-Dependent Diabetes Mellitus 1" EXACT [] synonym: "Insulin-Dependent Diabetes Mellitus, X-Linked, Susceptibility to" RELATED [] synonym: "JOD DIABETES MELLITUS, INSULIN-DEPENDENT, 1" NARROW [] synonym: "JUVENILE-ONSET DIABETES" NARROW [] synonym: "juvenile-onset diabetes mellitus" EXACT [] synonym: "neonatal insulin-dependent diabetes mellitus" NARROW [] synonym: "sudden-onset diabetes mellitus" EXACT [] synonym: "T1D" EXACT [] synonym: "type 1 diabetes" EXACT [] synonym: "virus-induced diabetes" NARROW [] xref: EFO:0001359 xref: EFO:0009757 xref: GARD:10268 xref: MESH:D003922 xref: MONDO:0005147 xref: NCI:C2986 is_a: DOID:0060005 ! autoimmune disease of endocrine system is_a: DOID:9351 ! diabetes mellitus [Term] id: DOID:9745 name: perianal hematoma synonym: "external thrombosed haemorrhoids" EXACT [] synonym: "thrombosed external hemorrhoids" EXACT [] xref: ICD10CM:K64.5 xref: ICD9CM:455.4 is_a: DOID:9006013 ! Hematoma is_a: DOID:9746 ! hemorrhoid created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:9746 name: hemorrhoid def: "A pelvic varices that is characterized by swollen, inflamed veins around the anus or lower rectum. (DO)" [http://en.wikipedia.org/wiki/Hemorrhoid "DO", http://www.nlm.nih.gov/medlineplus/hemorrhoids.html "DO", https://www.ncbi.nlm.nih.gov/pubmed/19725283 "DO"] synonym: "hemorrhoidal disease" EXACT [] synonym: "hemorrhoids" EXACT [] xref: EFO:0009552 xref: ICD10CM:K64 xref: ICD9CM:455 xref: MESH:D006484 xref: NCI:C26792 is_a: DOID:3128 ! anus disease is_a: DOID:37 ! skin disease is_a: DOID:9742 ! pelvic varices [Term] id: DOID:9749 name: internal hemorrhoid def: "A hemorrhoid that is located_in the rectum. (DO)" [https://www.mayoclinic.org/diseases-conditions/hemorrhoids/symptoms-causes/syc-20360268 "DO"] xref: ICD9CM:455.6 is_a: DOID:9746 ! hemorrhoid created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:9754 name: ganglion or cyst of synovium/tendon/bursa xref: ICD9CM:727.49 is_a: DOID:381 ! arthropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:9765 name: emphysematous cholecystitis def: "A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=choleysistitis "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=emphysematous "DO", https://radiopaedia.org/articles/emphysematous-cholecystitis?lang=us "DO"] synonym: "gaseous pericholecystitis" EXACT [] xref: EFO:0007249 xref: MESH:D041882 xref: NCI:C35592 is_a: DOID:9004618 ! Gallbladder Disease 1 is_a: DOID:9007393 ! Acute Cholecystitis [Term] id: DOID:9766 name: xanthogranulomatous cholecystitis def: "A cholecystitis characterized by nodules containing lipid-laden macrophages. (DO)" [https://pubmed.ncbi.nlm.nih.gov/23991684/ "DO", https://pubmed.ncbi.nlm.nih.gov/26981227/ "DO"] xref: GARD:9451 xref: MESH:C536762 xref: NCI:C35792 is_a: DOID:1949 ! cholecystitis is_a: DOID:3345 ! xanthomatosis [Term] id: DOID:9767 name: myocardial stunning def: "Prolonged dysfunction of the myocardium after a brief episode of severe ischemia, with gradual return of contractile activity." [MESH:D017682] synonym: "Myocardial Hibernation" EXACT [] synonym: "Stunned Myocardium" EXACT [] xref: MESH:D017682 is_a: DOID:114 ! heart disease is_a: DOID:5844 ! myocardial infarction is_a: DOID:9000071 ! Signs and Symptoms [Term] id: DOID:9768 name: heart aneurysm def: "A localized bulging or dilatation in the muscle wall of a heart (MYOCARDIUM), usually in the LEFT VENTRICLE. Blood-filled aneurysms are dangerous because they may burst. Fibrous aneurysms interfere with the heart function through the loss of contractility. True aneurysm is bound by the vessel wall or cardiac wall. False aneurysms are HEMATOMA caused by myocardial rupture." [MESH:D006322] synonym: "Cardiac Aneurysm" EXACT [] synonym: "Cardiac Aneurysms" EXACT [] synonym: "Heart Aneurysms" EXACT [] xref: EFO:1000959 xref: ICD10CM:I25.3 xref: MESH:D006322 is_a: DOID:114 ! heart disease is_a: DOID:9001665 ! Aneurysm [Term] id: DOID:9771 name: transient neonatal thrombocytopenia xref: ICD10CM:P61.0 xref: ICD9CM:776.1 xref: RDO:9002308 is_a: DOID:11245 ! transient neonatal neutropenia is_a: DOID:1588 ! thrombocytopenia is_a: DOID:9003548 ! Infant, Newborn, Diseases created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:9773 name: female breast upper-outer quadrant cancer def: "A female breast cancer that is located_in the upper-outer quadrant of the breast. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4531129/ "DO"] xref: ICD10CM:C50.41 xref: ICD9CM:174.4 xref: RDO:9001818 is_a: DOID:0050671 ! female breast cancer created_by: rgd creation_date: 2017-09-01T00:00:00Z [Term] id: DOID:9775 name: diastolic heart failure def: "Heart failure caused by abnormal myocardial relaxation during DIASTOLE leading to defective cardiac filling." [MESH:D054144] synonym: "Diastolic Heart Failures" EXACT [] xref: EFO:1000899 xref: ICD10CM:I50.30 xref: ICD9CM:428.3 xref: MESH:D054144 is_a: DOID:6000 ! congestive heart failure [Term] id: DOID:9776 name: Senile atrophy of choroid xref: ICD9CM:363.41 xref: RDO:9004889 is_a: DOID:980 ! choroidal sclerosis created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:9778 name: irritable bowel syndrome def: "An intestinal disease that is characterized by chronic abdominal pain, discomfort, bloating, and alteration of bowel habits in the absence of any detectable organic cause. (DO)" [http://en.wikipedia.org/wiki/Irritable_bowel_syndrome "DO", https://www.niddk.nih.gov/health-information/digestive-diseases/irritable-bowel-syndrome "DO"] synonym: "IBD" EXACT [] synonym: "irritable bowel syndromes" EXACT [] synonym: "Irritable Colon" EXACT [] synonym: "Mucous Colitides" EXACT [] synonym: "mucous colitis" EXACT [] synonym: "psychogenic IBS" RELATED [] xref: EFO:0000555 xref: ICD10CM:K58 xref: ICD10CM:K58.9 xref: ICD9CM:564.1 xref: MESH:D043183 xref: NCI:C82343 is_a: DOID:225 ! syndrome is_a: DOID:3877 ! functional colonic disease [Term] id: DOID:9779 name: bowel dysfunction xref: ICD10CM:K59.9 xref: ICD9CM:564.9 is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-10-31T00:00:00Z [Term] id: DOID:9784 name: trichinosis def: "A parasitic helminthiasis infectious disease that involves parasitic infection of animals and humans by Trichinella spiralis, Trichinella nativa or Trichinella britovi. Intestinal invasion causes diarrhea, abdominal pain and vomiting. Larval migration into muscle tissues can cause periorbital and facial edema, conjunctivitis, fever, myalgias, splinter hemorrhages, rashes, and blood eosinophilia. Myocarditis, central nervous system involvement, and pneumonitis can also occur. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Trichinellosis.htm "DO"] synonym: "human trichinelloses" EXACT [] synonym: "Human Trichinellosis" EXACT [] synonym: "trichinella spiralis infection" EXACT [] synonym: "Trichinelliases" EXACT [] synonym: "Trichinelliasis" EXACT [] synonym: "Trichinelloses" EXACT [] synonym: "trichinellosis" EXACT [] synonym: "trichinoses" EXACT [] xref: EFO:0007520 xref: ICD10CM:B75 xref: ICD9CM:124 xref: MESH:D014235 xref: NCI:C85199 is_a: DOID:9004683 ! Enoplida Infections [Term] id: DOID:9786 name: bulbar polio def: "A paralytic poliomyelitis that results in destruction located in motor neurons of brainstem, has_material_basis_in Human poliovirus 1, has_material_basis_in Human poliovirus 2, or has_material_basis_in Human poliovirus 3, which are transmitted by ingestion of food or water contaminated with feces, or transmitted by direct contact with the oral secretions. The infection has symptom difficulty breathing, has symptom difficulty speaking, has symptom difficulty swallowing, and has symptom difficulty chewing. (DO)" [http://en.wikipedia.org/wiki/Poliomyelitis "DO"] synonym: "bulbar poliomyelitis" EXACT [] synonym: "medullary involvement poliomyelitis" EXACT [] xref: EFO:0007186 xref: ICD9CM:045.0 xref: MESH:D011052 is_a: DOID:0050515 ! paralytic poliomyelitis [Term] id: DOID:9788 name: myositis fibrosa synonym: "interstitial myositis" EXACT [] xref: ICD10CM:M60.1 xref: ICD9CM:728.81 xref: NCI:C26985 is_a: DOID:633 ! myositis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:979 name: angioid streaks of choroid xref: ICD9CM:363.43 is_a: DOID:13401 ! angioid streaks is_a: DOID:8466 ! retinal degeneration is_a: DOID:980 ! choroidal sclerosis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:9790 name: toxocariasis def: "A parasitic helminthiasis infectious disease that involves zoonotic infection of humans by the larvae of Toxocara canis or Toxocara cati. The larvae invade multiple tissues like liver, heart, lungs, brain, muscle and eyes causing various symptoms including fever, anorexia, weight loss, cough, wheezing, rashes, hepatosplenomegaly, hypereosinophilia and ophthalmologic lesions. (DO)" [http://www.dpd.cdc.gov/dpdx/HTML/Toxocariasis.htm "DO"] synonym: "infection by toxascaris" EXACT [] synonym: "toxocara infection" EXACT [] synonym: "toxocariases" EXACT [] synonym: "visceral larva migrans" EXACT [] synonym: "visceral larva migrans syndrome" EXACT [] xref: EFO:0007516 xref: GARD:7788 xref: ICD10CM:B83.0 xref: MESH:D007816 xref: MESH:D014120 xref: NCI:C34758 is_a: DOID:114 ! heart disease is_a: DOID:409 ! liver disease is_a: DOID:5614 ! eye disease is_a: DOID:66 ! muscle tissue disease is_a: DOID:850 ! lung disease is_a: DOID:9000395 ! Ascaridida Infections is_a: DOID:9003940 ! Larva Migrans is_a: DOID:9006372 ! Animal Helminthiasis is_a: DOID:936 ! brain disease [Term] id: DOID:9794 name: hereditary choroidal atrophy xref: ICD10CM:H31.2 xref: ICD9CM:363.5 xref: RDO:9003429 is_a: DOID:980 ! choroidal sclerosis [Term] id: DOID:9799 name: eye degenerative disease synonym: "eye degenerative diseases" EXACT [] xref: ICD10CM:H44.5 xref: ICD9CM:360.4 is_a: DOID:1289 ! neurodegenerative disease is_a: DOID:5614 ! eye disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:980 name: choroidal sclerosis alt_id: MIM:215500 synonym: "CACD" EXACT [] synonym: "CACD1" EXACT [] synonym: "central areolar choroidal dystrophy" EXACT [] synonym: "central areolar choroidal dystrophy 1" EXACT [] synonym: "central areolar choroidal sclerosis" EXACT [] synonym: "choroidal degenerations" EXACT [] xref: ICD10CM:H31.10 xref: ICD9CM:363.4 xref: MESH:C535358 xref: MIM:PS215500 is_a: DOID:1417 ! choroid disease is_a: DOID:9799 ! eye degenerative disease [Term] id: DOID:9801 name: tuberculous peritonitis def: "A gastrointestinal tuberculosis that results_in inflammation located_in peritoneum, which results in formation of tubercles. The infection has_symptom abdominal discomfort, has_symptom pain, has_symptom distention from gas or fluid, has_symptom digestive disturbances and has_symptom emaciation. (DO)" [http://books.google.com/books?id=130IVak1eCwC&pg=PA695&lpg=PA695&dq#v=onepage&q=&f=false "DO"] synonym: "peritoneal tuberculosis" EXACT [] xref: EFO:0007529 xref: ICD10CM:A18.31 xref: ICD9CM:014.0 xref: MESH:D014395 is_a: DOID:404 ! gastrointestinal tuberculosis is_a: DOID:8283 ! peritonitis [Term] id: DOID:9808 name: Goodpasture syndrome def: "An autoimmune disease that is characterized by antibody attack of the basement membrane in lungs and kidneys, leading to bleeding from the lungs and kidney failure. (DO)" [http://en.wikipedia.org/wiki/Goodpasteure%27s_syndrome "DO"] synonym: "anti-GBM disease" EXACT [] synonym: "anti-glomerular basement membrane disease" EXACT [] synonym: "Goodpasture's syndrome" EXACT [] synonym: "Goodpastures syndrome" EXACT [] synonym: "lung purpura with nephritis" EXACT [] xref: EFO:0007290 xref: GARD:2551 xref: ICD10CM:M31.0 xref: ICD9CM:446.21 xref: MIM:233450 xref: NCI:C34649 xref: NCI:C84566 is_a: DOID:0060049 ! autoimmune disease of urogenital tract is_a: DOID:225 ! syndrome is_a: DOID:3082 ! interstitial lung disease is_a: DOID:557 ! kidney disease created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:9809 name: hypersensitivity vasculitis def: "A hypersensitivity reaction type III disease that is characterized by inflammation and injury to blood vessels and has_symptom purpura, telangiectasia, blistering, urticaria, and ulcers. (DO)" [https://rarediseases.info.nih.gov/diseases/7851/hypersensitivity-vasculitis "DO"] synonym: "hypersensitivity vasculitides" EXACT [] xref: EFO:1000974 xref: GARD:7851 xref: ICD9CM:446.2 xref: NCI:C35119 is_a: DOID:1557 ! hypersensitivity reaction type III disease is_a: DOID:865 ! vasculitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:981 name: diffuse secondary choroid atrophy xref: ICD10CM:H31.12 xref: ICD9CM:363.42 xref: MONDO:0004886 is_a: DOID:980 ! choroidal sclerosis created_by: rgd creation_date: 2017-10-30T00:00:00Z [Term] id: DOID:9810 name: polyarteritis nodosa def: "A vasculitis that is characterized by necrotizing inflammation of medium or small arteries. (DO)" [https://en.wikipedia.org/wiki/Polyarteritis_nodosa "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4029362/ "DO"] synonym: "essential polyarteritides" EXACT [] synonym: "Essential Polyarteritis" EXACT [] synonym: "Necrotizing Arteritides" EXACT [] synonym: "Necrotizing Arteritis" EXACT [] synonym: "periarteritis nodosa" EXACT [] xref: EFO:0009012 xref: GARD:7360 xref: ICD10CM:M30.0 xref: ICD9CM:446.0 xref: MESH:D010488 xref: NCI:C26847 is_a: DOID:9002564 ! Arteritis is_a: DOID:9003199 ! Systemic Vasculitis is_a: DOID:9540 ! vascular skin disease [Term] id: DOID:9811 name: partial circumpapillary choroid dystrophy xref: ICD9CM:363.51 is_a: DOID:9794 ! hereditary choroidal atrophy [Term] id: DOID:9820 name: central gyrate choroidal dystrophy synonym: "Choroidal dystrophy, serpiginous" EXACT [MTHICD9_2006:363.54] xref: ICD9CM:363.54 xref: RDO:9003432 is_a: DOID:9005836 ! Central Areolar Choroidal Dystrophy 2 is_a: DOID:9822 ! partial central choroid dystrophy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9821 name: Choroideremia alt_id: MIM:303100 def: "An X chromosome-linked abnormality characterized by atrophy of the choroid and degeneration of the retinal pigment epithelium causing night blindness." [MESH:D015794] synonym: "CHM" EXACT [] synonym: "CHM-RELATED CONDITION" EXACT [] synonym: "CHOROIDAL SCLEROSIS" RELATED [] synonym: "choroideremias" EXACT [] synonym: "Choroideremia, Salla type" NARROW [] synonym: "progressive choroidal atrophy" EXACT [] synonym: "progressive tapetochoroidal dystrophies" EXACT [] synonym: "TAPETOCHOROIDAL DYSTROPHY, PROGRESSIVE" EXACT [] synonym: "TCD" EXACT [] xref: GARD:6061 xref: ICD10CM:H31.21 xref: ICD9CM:363.55 xref: MESH:D015794 xref: NCI:C34469 xref: ORDO:180 is_a: DOID:0050735 ! X-linked monogenic disease is_a: DOID:1417 ! choroid disease is_a: DOID:8466 ! retinal degeneration is_a: DOID:9002525 ! Hereditary Eye Diseases [Term] id: DOID:9822 name: partial central choroid dystrophy synonym: "central areolar choroidal dystrophy" EXACT [] synonym: "central areolar choroid dystrophy" EXACT [] synonym: "partial central choroidal dystrophy" EXACT [] xref: ICD9CM:363.53 is_a: DOID:9794 ! hereditary choroidal atrophy [Term] id: DOID:9827 name: radioulnar synostosis alt_id: MIM:179300 synonym: "RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO" RELATED [] xref: ICD9CM:755.53 xref: MESH:C562408 is_a: DOID:0080015 ! physical disorder is_a: DOID:11971 ! synostosis [Term] id: DOID:9828 name: neonatal abstinence syndrome def: "A withdrawal disorder that is characterized by a group of problems that occur in a newborn who was exposed to addictive illegal or prescription drugs while in the mother's womb or postnatally following the discontinuance of drug treatment. (DO)" [http://en.wikipedia.org/wiki/Neonatal_abstinence_syndrome "DO"] synonym: "drug withdrawal syndrome in newborn" EXACT [] synonym: "Neonatal Abstinence Syndromes" EXACT [] synonym: "Neonatal Passive Addiction" EXACT [] synonym: "Neonatal Passive Addictions" EXACT [] synonym: "Neonatal Substance Withdrawal" EXACT [] synonym: "Neonatal Substance Withdrawals" EXACT [] synonym: "Neonatal Withdrawal Syndrome" EXACT [] synonym: "Neonatal Withdrawal Syndromes" EXACT [] xref: EFO:0005799 xref: ICD10CM:P96.1 xref: ICD9CM:779.5 xref: MESH:D009357 xref: NCI:C35808 xref: NCI:C87101 is_a: DOID:0060001 ! withdrawal disorder is_a: DOID:225 ! syndrome is_a: DOID:303 ! substance-related disorder is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9834 name: hyperopia def: "A refractive error that is characterized by rays of light entering the eye parallel to the optic axis are brought to a focus behind the retina, as a result of the eyeball being too short from front to back. (DO)" [https://www.mayoclinic.org/diseases-conditions/farsightedness/symptoms-causes/syc-20372495 "DO"] synonym: "far-sightedness" EXACT [] synonym: "farsightedness" EXACT [] synonym: "hypermetropia" EXACT [] xref: EFO:0006310 xref: ICD10CM:H52.0 xref: ICD9CM:367.0 xref: MESH:D006956 xref: MONDO:0004891 is_a: DOID:9835 ! refractive error [Term] id: DOID:9835 name: refractive error def: "Deviations from the average or standard indices of refraction of the eye through its dioptric or refractive apparatus." [MESH:D012030] synonym: "ametropia" EXACT [] synonym: "ametropias" EXACT [] synonym: "refractive disorder" EXACT [] synonym: "refractive disorders" EXACT [] synonym: "refractive errors" EXACT [] xref: EFO:0003908 xref: ICD10CM:H52.7 xref: MESH:D012030 xref: MONDO:0004892 xref: NCI:C87145 is_a: DOID:5614 ! eye disease [Term] id: DOID:9837 name: hypertropia synonym: "Hypertropias" EXACT [] xref: ICD10CM:H50.2 xref: ICD9CM:378.31 xref: NCI:C34716 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9838 name: cyclotropia synonym: "excyclotropia" EXACT [] synonym: "incyclotropia" EXACT [] xref: ICD10CM:H50.41 xref: ICD9CM:378.33 xref: MESH:C000721272 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9839 name: accommodative esotropia xref: ICD10CM:H50.43 xref: ICD9CM:378.35 is_a: DOID:9840 ! esotropia created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9840 name: esotropia def: "A strabismus that is characterized the eye which turns inward toward the nose. (DO)" [http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=cross-eye+ "DO"] synonym: "convergence in manifest squint" EXACT [] synonym: "convergent strabismus" EXACT [] synonym: "crossed eyes" EXACT [] synonym: "cross eye" EXACT [] synonym: "cross-eyes" EXACT [] synonym: "Esodeviation" EXACT [] synonym: "Esodeviations" EXACT [] synonym: "Esophoria" EXACT [] synonym: "Esophorias" EXACT [] synonym: "Esotropias" EXACT [] synonym: "Intermittent Esotropia" EXACT [] synonym: "Intermittent Esotropias" EXACT [] synonym: "Internal Strabismus" EXACT [] synonym: "Primary Esotropia" EXACT [] synonym: "primary esotropias" EXACT [] synonym: "secondary esotropia" EXACT [] synonym: "secondary esotropias" EXACT [] xref: GARD:8235 xref: ICD10CM:H50.0 xref: ICD9CM:378.0 xref: MESH:D004948 xref: NCI:C34596 is_a: DOID:540 ! strabismus [Term] id: DOID:9841 name: hypotropia xref: ICD9CM:378.32 xref: NCI:C42086 is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9842 name: total circumpapillary dystrophy of choroid xref: ICD9CM:363.52 is_a: DOID:9794 ! hereditary choroidal atrophy created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9843 name: monofixation syndrome xref: ICD10CM:H50.42 xref: ICD9CM:378.34 is_a: DOID:225 ! syndrome is_a: DOID:540 ! strabismus created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9847 name: peripheral vertigo def: "A vestibular disease that is characterized by a sensation of motion or spinning that is often described as dizziness due to a problem in the part of the inner ear that controls balance. (DO)" [https://medlineplus.gov/ency/article/001432.htm "DO"] synonym: "peripheral vertigos" EXACT [] xref: ICD10CM:H81.399 xref: ICD9CM:386.19 is_a: DOID:9007736 ! Vertigo [Term] id: DOID:9848 name: endolymphatic hydrops def: "An accumulation of ENDOLYMPH in the inner ear (LABYRINTH) leading to buildup of pressure and distortion of intralabyrinthine structures, such as COCHLEA and SEMICIRCULAR CANALS. It is characterized by SENSORINEURAL HEARING LOSS; TINNITUS; and sometimes VERTIGO." [MESH:D018159] synonym: "labyrinthine hydrops" EXACT [] xref: EFO:1000918 xref: ICD10CM:H81.0 xref: MESH:D018159 is_a: DOID:9847 ! peripheral vertigo [Term] id: DOID:9849 name: Meniere's disease alt_id: MIM:156000 def: "A vestibular disease characterized by vertigo, low-pitched tinnitus and hearing loss. (DO)" [http://en.wikipedia.org/wiki/M%C3%A9ni%C3%A8re%27s_disease "DO"] synonym: "auditory vertigo" EXACT [] synonym: "auditory vertigos" EXACT [] synonym: "Aural Vertigo" EXACT [] synonym: "Meniere's Syndrome" EXACT [] synonym: "Meniere disease" EXACT [] synonym: "Menieres Disease" EXACT [] synonym: "Menieres Syndrome" EXACT [] synonym: "Meniere Syndrome" EXACT [] synonym: "Mnire's vertigo" EXACT [] synonym: "Ménière's Disease" EXACT [] synonym: "Ménière's diseases" EXACT [] synonym: "Ménière's Vertigo" EXACT [] synonym: "Ménière's vertigos" EXACT [] synonym: "Ménière Disease" EXACT [] synonym: "Ménière diseases" EXACT [] synonym: "Ménières Disease" EXACT [] synonym: "Ménières Vertigo" EXACT [] synonym: "Ménière vertigo" EXACT [] synonym: "otogenic vertigo" EXACT [] synonym: "otogenic vertigos" EXACT [] xref: EFO:0006862 xref: GARD:10340 xref: ICD9CM:386.0 xref: MESH:D008575 xref: NCI:C185243 is_a: DOID:9848 ! endolymphatic hydrops [Term] id: DOID:9854 name: lingual-facial-buccal dyskinesia synonym: "lingual facial buccal dyskinesias" EXACT [] synonym: "oro-facial dyskinesia" EXACT [] xref: ICD10CM:G24.4 xref: ICD9CM:333.82 is_a: DOID:9008675 ! Dyskinesias created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:9856 name: congenital syphilis def: "A syphilis that results_in a multisystem infection in the fetus via the placenta. (DO)" [http://www.merckmanuals.com/professional/sec19/ch279/ch279d.html "DO"] synonym: "Hutchinson's Teeth" EXACT [] synonym: "Hutchinsons Teeth" EXACT [] synonym: "Hutchinson Teeth" EXACT [] xref: EFO:0007219 xref: ICD10CM:A50 xref: ICD9CM:090 xref: MESH:D013590 xref: NCI:C84649 is_a: DOID:0080015 ! physical disorder is_a: DOID:4166 ! syphilis is_a: DOID:9003548 ! Infant, Newborn, Diseases [Term] id: DOID:9857 name: interstitial keratitis def: "A connective tissue disease characterized by corneal scarring that develops from non-suppurative inflammation located_in the corneal stroma, has_symptom visual acuity loss, has_symptom pain, and has_symptom lacrimation. (DO)" [https://en.wikipedia.org/wiki/Interstitial_keratitis "DO"] xref: ICD10CM:H16.30 xref: ICD9CM:370.50 is_a: DOID:65 ! connective tissue disease is_a: DOID:9858 ! deep keratitis created_by: rgd creation_date: 2017-10-20T00:00:00Z [Term] id: DOID:9858 name: deep keratitis xref: ICD10CM:H16.3 xref: ICD9CM:370.5 is_a: DOID:4677 ! keratitis created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:986 name: alopecia areata def: "An autoimmune disease resulting in the loss of hair on the scalp and elsewhere on the body initially causing bald spots. (DO)" [http://en.wikipedia.org/wiki/Alopecia_areata "DO"] synonym: "alopecia circumscripta" EXACT [] synonym: "circumscribed alopecia" EXACT [] xref: EFO:0004192 xref: GARD:5782 xref: ICD10CM:L63 xref: ICD9CM:704.01 xref: MESH:D000506 is_a: DOID:0060039 ! autoimmune disease of skin and connective tissue is_a: DOID:987 ! alopecia [Term] id: DOID:9861 name: miliary tuberculosis def: "An extrapulmonary tuberculosis that results in formation of tiny lesions in all the organs. (DO)" [http://en.wikipedia.org/wiki/Disseminated_tuberculosis "DO"] synonym: "acute miliary tuberculosis" EXACT [] synonym: "disseminated tuberculosis" EXACT [] synonym: "generalized tuberculosis" EXACT [] synonym: "miliary tuberculoses" EXACT [] synonym: "tuberculosis miliaris disseminata" EXACT [] xref: EFO:0007368 xref: ICD10CM:A19 xref: ICD9CM:018 xref: MESH:D014391 xref: NCI:C35086 is_a: DOID:0050598 ! extrapulmonary tuberculosis [Term] id: DOID:9867 name: toxic maculopathy synonym: "Toxic maculopathy of retina" EXACT [] xref: ICD10CM:H35.38 xref: ICD9CM:362.55 is_a: DOID:2007 ! degeneration of macula and posterior pole created_by: rgd creation_date: 2017-09-19T00:00:00Z [Term] id: DOID:9868 name: intestinal disaccharidase deficiency xref: EFO:1000060 xref: ICD9CM:271.3 xref: NCI:C34731 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:5295 ! intestinal disease created_by: rgd creation_date: 2017-10-23T00:00:00Z [Term] id: DOID:9869 name: hereditary fructose intolerance syndrome def: "A carbohydrate metabolic disorder characterized by recurrent vomiting, abdominal pain, and hypoglycemia that may be fatal after introduction of fructose or sucrose to the diet that has_material_basis_in homozygous or compound heterozygous mutation in the aldolase B gene (ALDOB) on chromosome 9q31. (DO)" [https://pubmed.ncbi.nlm.nih.gov/20848650/ "DO", https://pubmed.ncbi.nlm.nih.gov/9610797/ "DO"] synonym: "ALDOB deficiencies" EXACT [] synonym: "ALDOB Deficiency" EXACT [] synonym: "ALDOB-RELATED CONDITION" EXACT [] synonym: "aldolase B deficiencies" EXACT [] synonym: "Aldolase B Deficiency" EXACT [] synonym: "fructosaemia" EXACT [] synonym: "fructose-1,6-biphosphate aldolase deficiencies" EXACT [] synonym: "Fructose 1,6 Biphosphate Aldolase Deficiency" EXACT [] synonym: "Fructose-1,6-Bisphosphate Aldolase B Deficiency" EXACT [] synonym: "fructose-1-phosphate aldolase deficiencies" EXACT [] synonym: "Fructose 1 Phosphate Aldolase Deficiency" EXACT [] synonym: "Fructose Aldolase B Deficiency" EXACT [] synonym: "fructose intolerance" EXACT [] synonym: "Fructose Intolerances" EXACT [] synonym: "fructosemia" EXACT [] synonym: "fructosemias" EXACT [] synonym: "hereditary fructose intolerance" EXACT [] synonym: "hereditary fructose intolerances" EXACT [] xref: ICD10CM:E74.12 xref: ICD9CM:271.2 xref: MESH:D005633 xref: MIM:229600 xref: MONDO:0009249 xref: NCI:C84720 is_a: DOID:225 ! syndrome is_a: DOID:9000875 ! Fructose Metabolism, Inborn Errors [Term] id: DOID:987 name: alopecia alt_id: MIM:109200 alt_id: MIM:300042 alt_id: OMIA:000030 alt_id: OMIA:000031 def: "A hypotrichosis that is characterized by a loss of hair from the head or body. (DO)" [http://en.wikipedia.org/wiki/Alopecia "DO", http://www.omim.org/entry/109200?search=109200&highlight=109200 "DO"] synonym: "AGA1" EXACT [] synonym: "AGA BALDNESS, MALE PATTERN" NARROW [] synonym: "alopecia cicatrisata" EXACT [] synonym: "alopecia cicatrisatas" EXACT [] synonym: "Alopecia, color mutant" NARROW [] synonym: "ANDROGENETIC ALOPECIA" NARROW [] synonym: "androgenetic alopecia 1" EXACT [] synonym: "Baldness" EXACT [] synonym: "Female Pattern Baldness" EXACT [] synonym: "generic alopecia" EXACT [] synonym: "Hair Loss" EXACT [] synonym: "male pattern alopecia" EXACT [] synonym: "male pattern baldness" EXACT [] synonym: "MPB" NARROW [] synonym: "pattern baldness" EXACT [] synonym: "pseudopelade" EXACT [] xref: EFO:0003109 xref: ICD10CM:L65.9 xref: ICD9CM:704.0 xref: MESH:D000505 xref: MIM:PS203655 xref: MONDO:0004907 xref: NCI:C50575 is_a: DOID:4535 ! hypotrichosis is_a: DOID:9005214 ! Anatomical Pathological Conditions [Term] id: DOID:9870 name: galactosemia def: "A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues. (DO)" [http://en.wikipedia.org/wiki/Galactosemia "DO"] synonym: "DEFICIENCY OF UDPGLUCOSE-HEXOSE-1-PHOSPHATE URIDYLYLTRANSFERASE" EXACT [] synonym: "galactosaemia" EXACT [] synonym: "galactose intolerance" EXACT [] synonym: "GALACTOSEMIA, CLASSIC GALACTOSEMIA, DUARTE VARIANT" NARROW [] synonym: "galactosemias" EXACT [] synonym: "Hereditary Galactokinase Deficiencies" NARROW [] synonym: "Hereditary Galactokinase Deficiency" NARROW [] synonym: "UDPGlucose Hexose 1 Phosphate Uridylyltransferase Deficiency" EXACT [] synonym: "UTP Hexose 1 Phosphate Uridylyltransferase Deficiency" EXACT [] synonym: "UTP Hexose 1 Phosphate Uridylyltransferase Deficiency Disease" EXACT [] xref: GARD:2424 xref: ICD10CM:E74.21 xref: ICD9CM:271.1 xref: MESH:D005693 xref: MIM:PS230400 xref: NCI:C84723 xref: ORDO:352 is_a: DOID:2978 ! carbohydrate metabolic disorder is_a: DOID:9005683 ! Metabolic Brain Diseases, Inborn [Term] id: DOID:9877 name: urethral gland abscess xref: ICD10CM:N34.0 xref: ICD9CM:597.0 is_a: DOID:732 ! urethral disease created_by: rgd creation_date: 2017-11-10T00:00:00Z [Term] id: DOID:988 name: mitral valve prolapse def: "A mitral valve disease where one or both of the cusps of the mitral valve bulge or collapse backward in the left atrium during systole. (DO)" [http://en.wikipedia.org/wiki/Mitral_valve_prolapse "DO", http://ghr.nlm.nih.gov/glossary=mitralvalveprolapse "DO", http://www.merckmanuals.com/professional/cardiovascular_disorders/valvular_disorders/mitral_valve_prolapse_mvp.html "DO", https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/564/viewAbstract "DO"] synonym: "Barlow's syndrome" EXACT [] synonym: "Barlow syndrome" EXACT [] synonym: "click murmur syndrome" EXACT [] synonym: "click-murmur syndromes" EXACT [] synonym: "floppy mitral valve" EXACT [] synonym: "floppy mitral valves" EXACT [] synonym: "mitral click murmur syndrome" EXACT [] synonym: "mitral leaflet syndrome" RELATED [] synonym: "mitral valve prolapses" EXACT [] synonym: "mitral valve prolapse syndrome" EXACT [] synonym: "myxomatous mitral valve prolapse" RELATED [] synonym: "prolapsed mitral valve" EXACT [] synonym: "prolapsed mitral valves" EXACT [] synonym: "systolic click murmur syndrome" EXACT [] xref: MESH:D008945 xref: MIM:PS157700 xref: NCI:C50655 is_a: DOID:61 ! mitral valve disease is_a: DOID:9004382 ! Heart Valve Prolapse [Term] id: DOID:9880 name: cardiovascular syphilis def: "A tertiary syphilis that is manifested as aneurysm formation in the ascending aorta, caused by chronic inflammatory destruction of the vasa vasorum, insufficiency of the aortic valve, or narrowing of the coronary arteries. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO"] synonym: "Syphilitic Aortitides" EXACT [] synonym: "Syphilitic Aortitis" EXACT [] xref: EFO:1001206 xref: ICD9CM:093.8 xref: MESH:D013589 is_a: DOID:4166 ! syphilis is_a: DOID:8200 ! tertiary syphilis is_a: DOID:9003237 ! Cardiovascular Infections [Term] id: DOID:9883 name: Becker muscular dystrophy alt_id: DOID:9002338 alt_id: MESH:C570377 def: "A muscular dystrophy that involves slowly worsening muscle weakness of the legs and pelvis, and has_material_basis_in X-linked recessive inheritance of mutation in the dystrophin gene on chromosome Xp21. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/19461958 "DO", https://www.omim.org/entry/300376 "DO"] synonym: "atypical Becker muscular dystrophy" NARROW [] synonym: "Becker's muscular dystrophy" EXACT [] synonym: "benign congenital myopathy" EXACT [] synonym: "benign pseudohypertrophic muscular dystrophy" EXACT [] synonym: "BMD" EXACT [] synonym: "muscular dystrophy, Becker type" EXACT [] synonym: "pseudohypertrophic progressive muscular dystrophy, Becker type" EXACT [] xref: EFO:0000103 xref: GARD:5900 xref: MIM:300376 xref: MONDO:0010311 xref: NCI:C84587 xref: ORDO:98895 is_a: DOID:9884 ! muscular dystrophy created_by: rgd creation_date: 2017-09-27T00:00:00Z [Term] id: DOID:9884 name: muscular dystrophy def: "A myopathy is characterized by progressive skeletal muscle weakness degeneration. (DO)" [http://en.wikipedia.org/wiki/Muscular_dystrophy "DO", http://www.ninds.nih.gov/disorders/md/md.htm "DO"] synonym: "muscular dystrophies" EXACT [] synonym: "myodystrophica" EXACT [] synonym: "myodystrophicas" EXACT [] synonym: "myodystrophies" EXACT [] synonym: "myodystrophy" EXACT [] xref: EFO:0000757 xref: GARD:7922 xref: MESH:D009136 xref: MONDO:0020121 xref: NCI:C84910 is_a: DOID:0050692 ! Brody myopathy is_a: DOID:423 ! myopathy [Term] id: DOID:9888 name: alternating esotropia xref: ICD10CM:H50.05 xref: ICD9CM:378.05 is_a: DOID:9840 ! esotropia created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9892 name: median arcuate ligament syndrome alt_id: MIM:116870 synonym: "Celiac artery compression syndrome" EXACT [] synonym: "Celiac Artery Stenosis from Compression by Median Arcuate Ligament of Diaphragm" EXACT [] synonym: "Harjola-Marable syndrome" EXACT [] synonym: "Marable's syndrome" EXACT [] xref: ICD10CM:I77.4 xref: ICD9CM:447.4 xref: MESH:D000074742 is_a: DOID:0050828 ! artery disease is_a: DOID:225 ! syndrome is_a: DOID:9001627 ! Pathologic Constriction [Term] id: DOID:9893 name: periodontosis def: "An obsolete diagnosis that has been replaced by periodontitis." [] synonym: "periodontoses" EXACT [] xref: EFO:0000649 xref: ICD10CM:K05.4 xref: ICD9CM:523.5 xref: RDO:9002859 is_a: DOID:3388 ! periodontal disease created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:9898 name: villonodular synovitis xref: ICD10CM:M12.20 xref: ICD9CM:719.2 is_a: DOID:2703 ! synovitis is_a: DOID:381 ! arthropathy created_by: rgd creation_date: 2017-11-06T00:00:00Z [Term] id: DOID:990 name: congenital heart block alt_id: MIM:234700 def: "An atrioventricular block characterized by the presence of conduction system disease of any form, which is diagnosed on or before 28 days of life. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/22368629 "DO"] synonym: "Congenital complete heart block" EXACT [] synonym: "Familial congenital heart block" EXACT [] synonym: "Isolated Congenital Heart Block" EXACT [] xref: GARD:6164 xref: ICD10CM:Q24.6 xref: ICD9CM:746.86 xref: MESH:C535758 is_a: DOID:0050820 ! atrioventricular block is_a: DOID:0080015 ! physical disorder is_a: DOID:9003163 ! Heart Block [Term] id: DOID:9903 name: meibomian cyst def: "A blepharitis that is characterized as a cyst in the eyelid that is caused by inflammation of a blocked meibomian gland, usually on the upper eyelid. (DO)" [http://en.wikipedia.org/wiki/Chalazion "DO"] synonym: "chalazia" EXACT [] synonym: "chalazion" EXACT [] synonym: "meibomian gland lipogranuloma" EXACT [] xref: EFO:0007363 xref: ICD10CM:H00.1 xref: ICD9CM:373.2 xref: MESH:D017043 xref: NCI:C26717 is_a: DOID:9007583 ! Cysts is_a: DOID:9423 ! blepharitis [Term] id: DOID:9905 name: follicular mucinosis def: "A disease of the pilosebaceous unit, presenting clinically as grouped follicular papules or plaques with associated hair loss. It is caused by mucinous infiltration of tissues, and usually involving the scalp, face, and neck. It may be primary (idiopathic) or secondary to mycosis fungoides or reticulosis." [MESH:D000507] synonym: "alopecia mucinosa" EXACT [] synonym: "alopecia mucinosis" EXACT [] synonym: "follicular mucinoses" EXACT [] xref: EFO:1000701 xref: ICD10CM:L65.2 xref: MESH:D000507 xref: MONDO:0006551 xref: NCI:C82859 is_a: DOID:3141 ! mucinoses is_a: DOID:9098 ! sebaceous gland disease is_a: DOID:987 ! alopecia [Term] id: DOID:9908 name: internal hordeolum xref: ICD10CM:H00.02 xref: ICD9CM:373.12 is_a: DOID:9909 ! hordeolum [Term] id: DOID:9909 name: hordeolum def: "An eyelid disease that is characterized by an infection of the sebaceous glands at the base of the eyelashes. Styes are generally caused by a Staphylococcus aureus bacterial infection. (DO)" [http://en.wikipedia.org/wiki/Hordeolum "DO"] synonym: "boil of eyelid" EXACT [] synonym: "furuncle of eyelid" EXACT [] synonym: "stye" EXACT [] synonym: "styes" EXACT [] xref: EFO:0007315 xref: ICD10CM:H00.01 xref: MESH:D006726 xref: NCI:C118722 is_a: DOID:530 ! eyelid disease is_a: DOID:9005473 ! Bacterial Eye Infections [Term] id: DOID:9910 name: central corneal ulcer def: "A corneal ulcer that is characterized by ulceration and opacification of the central cornea and is caused by minor trauma and subsequent infection by bacterial or mycotic organisms. (DO)" [https://en.wikipedia.org/wiki/Corneal_ulcer "DO"] xref: ICD10CM:H16.01 xref: ICD9CM:370.03 is_a: DOID:8463 ! corneal ulcer created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9911 name: infected hydrocele xref: ICD10CM:N43.1 xref: ICD9CM:603.1 is_a: DOID:9912 ! hydrocele created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:9912 name: hydrocele def: "Accumulation of serous fluid between the layers of membrane (tunica vaginalis) covering the TESTIS in the SCROTUM." [MESH:D006848] synonym: "scrotal hydrocele" EXACT [] synonym: "Scrotal Hydroceles" EXACT [] synonym: "testicular hydrocele" EXACT [] synonym: "Testicular Hydroceles" EXACT [] synonym: "Vaginal Hydrocele" RELATED [] synonym: "vaginal hydroceles" RELATED [] xref: EFO:1001859 xref: MESH:D006848 is_a: DOID:48 ! male reproductive system disease [Term] id: DOID:992 name: Omsk hemorrhagic fever def: "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Omsk hemorrhagic fever virus, which is transmitted_by Dermacentor and transmitted_by Ixodes species of ticks. The infection has_symptom fever, has_symptom chills, has_symptom headache, has_symptom pain in lower and upper extremities, has_symptom stiff neck, has_symptom papulovesicular rash on the soft palate, has_symptom cervical lymphadenopathy, has_symptom conjunctival suffusion, has_symptom blood in the urine, and has_symptom blood in the sputum. (DO)" [http://www.cdc.gov/ncidod/dvrd/Spb/mnpages/dispages/omsk.htm "DO", http://www.phac-aspc.gc.ca/msds-ftss/msds113e-eng.php "DO", http://www.springerlink.com/content/r2120r64x8x4511q/fulltext.pdf "DO"] xref: GARD:8254 xref: ICD10CM:A98.1 xref: ICD9CM:065.1 xref: MESH:D006481 is_a: DOID:9002098 ! Tick-Borne Diseases is_a: DOID:9004146 ! Flavivirus Infections is_a: DOID:9007401 ! Viral Hemorrhagic Fevers [Term] id: DOID:9923 name: developmental coordination disorder def: "A specific developmental disorder that involves disordered motor skills where coordinated muscle movement is impaired. (DO)" [http://www.nlm.nih.gov/medlineplus/ency/article/001533.htm "DO"] synonym: "developmental coordination disorders" EXACT [] synonym: "motor skills disorder" EXACT [] synonym: "motor skills disorders" EXACT [] xref: ICD10CM:F82 xref: ICD9CM:315.4 xref: MESH:D019957 xref: NCI:C92561 is_a: DOID:0060038 ! specific developmental disorder is_a: DOID:9004429 ! Neurodevelopmental Disorders [Term] id: DOID:9931 name: Waterhouse-Friderichsen syndrome def: "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland. (DO)" [http://en.wikipedia.org/wiki/Waterhouse-Friderichsen_syndrome "DO", http://www2.merriam-webster.com/cgi-bin/mwmednlm?book=Medical&va=waterhouse "DO"] synonym: "fulminant meningococcal sepsis with adrenal apoplexy" EXACT [] synonym: "meningococcal hemorrhagic adrenalitides" EXACT [] synonym: "meningococcal hemorrhagic adrenalitis" EXACT [] synonym: "meningococcal waterhouse Friderichsen syndrome" EXACT [] synonym: "purpura fulminans (Waterhouse-Friderichsen syndrome)" EXACT [] synonym: "Waterhouse Friederichsen syndrome" EXACT [] synonym: "WFS" EXACT [] xref: EFO:0007544 xref: GARD:9449 xref: MESH:D014884 xref: NCI:C85225 is_a: DOID:0080176 ! meningococcal meningitis is_a: DOID:2213 ! hemorrhagic disease is_a: DOID:225 ! syndrome is_a: DOID:3326 ! purpura is_a: DOID:9008622 ! Adrenal Insufficiency [Term] id: DOID:9935 name: chronic inflammation of lacrimal passage def: "A lacrimal apparatus disease that is characterized by longstanding inflammation of the lacrimal passage, and has_symptom pain, increased or decreased tearing, and swelling between the eye and nose. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/6856241 "DO"] xref: ICD10CM:H04.4 xref: ICD9CM:375.4 is_a: DOID:1400 ! lacrimal apparatus disease created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:9936 name: chronic canaliculitis xref: ICD10CM:H04.42 xref: ICD9CM:375.41 is_a: DOID:9003523 ! Canaliculitis is_a: DOID:9935 ! chronic inflammation of lacrimal passage created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:9937 name: chronic dacryocystitis xref: ICD10CM:H04.41 xref: ICD9CM:375.42 is_a: DOID:9935 ! chronic inflammation of lacrimal passage is_a: DOID:9938 ! dacryocystitis created_by: rgd creation_date: 2017-10-24T00:00:00Z [Term] id: DOID:9938 name: dacryocystitis def: "An acute inflammation of lacrimal passage that is characterized by inflammation of the lacrimal sac, has_symptom conjunctivitis and has_symptom purulent discharge. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3923200/ "DO"] synonym: "dacryocystitides" EXACT [] xref: ICD10CM:H04.30 xref: ICD9CM:375.30 xref: MESH:D003607 xref: NCI:C34521 is_a: DOID:1400 ! lacrimal apparatus disease is_a: DOID:6970 ! acute inflammation of lacrimal passage [Term] id: DOID:9939 name: dacryocystocele synonym: "lacrimal mucocele" EXACT [] xref: ICD9CM:375.43 xref: NCI:C98968 is_a: DOID:9004508 ! Mucocele is_a: DOID:9935 ! chronic inflammation of lacrimal passage created_by: rgd creation_date: 2017-11-03T00:00:00Z [Term] id: DOID:9942 name: lymph node disease xref: NCI:C35346 xref: RDO:9002657 is_a: DOID:75 ! lymphatic system disease created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:9945 name: constant exophthalmos xref: ICD10CM:H05.24 xref: ICD9CM:376.31 xref: RDO:9002978 is_a: DOID:930 ! orbital disease created_by: rgd creation_date: 2017-10-19T00:00:00Z [Term] id: DOID:9946 name: steroid-induced glaucoma def: "A glaucoma characterized by elevated intraocular pressure secondary to chronic corticosteroid use, which leads to glaucomatous optic nerve atrophy and progressive vision loss and has_symptom progressive decreased vision, visual field defects, and decreased peripheral vision. Steroid-induced glaucoma is caused by chronic corticosteroid use. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5577123/ "DO"] synonym: "corticosteroid-induced glaucoma" EXACT [] xref: ICD9CM:365.3 is_a: DOID:1686 ! glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9948 name: residual stage corticosteroid-induced glaucoma xref: ICD9CM:365.32 xref: RDO:9003545 is_a: DOID:9946 ! steroid-induced glaucoma created_by: rgd creation_date: 2017-10-25T00:00:00Z [Term] id: DOID:9952 name: acute lymphoblastic leukemia alt_id: DOID:5600 alt_id: DOID:9006123 def: "A acute leukemia that is characterized by over production of lymphoblasts. (DO)" [http://www.cancer.gov/dictionary?CdrID=46332 "DO"] synonym: "acute lymphoblastic leukaemia" EXACT [] synonym: "acute lymphoblastic leukemia, adult" EXACT [] synonym: "acute lymphoblastic leukemia, L1" EXACT [] synonym: "acute lymphoblastic leukemia, L2" EXACT [] synonym: "acute lymphoblastic leukemia, Philadelphia-positive" EXACT [] synonym: "acute lymphoblastic leukemia, susceptibility to" RELATED [] synonym: "acute lymphoblastic leukemia, susceptibility to, 1" RELATED [] synonym: "acute lymphoblastic leukemia, susceptibility to, 2" RELATED [] synonym: "acute lymphoblastic leukemia, susceptibility to, 3" RELATED [] synonym: "acute lymphocytic leukaemia" EXACT [] synonym: "acute lymphocytic leukemia" EXACT [] synonym: "acute lymphocytic leukemia, L1" EXACT [] synonym: "acute lymphocytic leukemia, L2" EXACT [] synonym: "acute lymphocytic leukemia, susceptibility to, 1" RELATED [] synonym: "acute lymphocytic leukemia, susceptibility to, 2" RELATED [] synonym: "acute lymphoid leukemia" EXACT [] synonym: "ALL" EXACT [] synonym: "ALL1" NARROW [] synonym: "ALL2" EXACT [] synonym: "ALL3" NARROW [] synonym: "EFO:0000220" EXACT [] synonym: "L1 Lymphocytic Leukemia" EXACT [] synonym: "L2 Lymphocytic Leukemia" EXACT [] synonym: "LEUKEMIA, ACUTE LYMPHOBLASTIC, B-HYPERDIPLOID, SUSCEPTIBILITY TO" NARROW [] synonym: "lymphoblastic leukemia" EXACT [] synonym: "lymphoblastic leukemias" EXACT [] synonym: "precursor cell lymphoblastic leukemia-lymphoma" EXACT [] synonym: "precursor lymphoblastic lymphoma/leukemia" EXACT [] xref: EFO:0000219 xref: EFO:0000220 xref: EFO:0009119 xref: GARD:522 xref: ICD10CM:C91.00 xref: ICD9CM:204.0 xref: MESH:D054198 xref: MIM:613065 xref: MIM:613067 xref: MIM:615545 xref: MONDO:0004967 xref: NCI:C3167 xref: NCI:C7055 xref: ORDO:513 is_a: DOID:12603 ! acute leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:9953 name: acute biphenotypic leukemia alt_id: MIM:159555 def: "An acute leukemia that is characterized by the occurrence of more than one type of leukemia at the same time resulting from either the occurrence of blasts which coexpress myeloid and T or B lineage antigens or concurrent B and T lineage antigens. (DO)" [https://www.ncbi.nlm.nih.gov/pubmed/29021517 "DO"] synonym: "acute B and T cell leukemia" EXACT [] synonym: "acute biphenotypic leukemias" EXACT [] synonym: "acute lymphocytic leukemia, B and T cell" EXACT [] synonym: "B and T cell acute lymphoblastic leukemia" EXACT [] synonym: "B- and T-cell mixed leukemia" EXACT [] synonym: "EFO:1000828" EXACT [] synonym: "Hybrid Acute Leukemia" EXACT [] synonym: "hybrid acute leukemias" EXACT [] synonym: "Leukemia, Lymphocytic, Acute, Mixed Cell" EXACT [] synonym: "Leukemia, Myeloid/Lymphoid" EXACT [] synonym: "mixed-cell leukemia" EXACT [] synonym: "mixed-cell leukemias" EXACT [] synonym: "mixed-lineage acute leukemia" EXACT [] synonym: "mixed lineage acute leukemias" EXACT [] synonym: "mixed phenotype acute leukemia" EXACT [] synonym: "MPAL" EXACT [] xref: EFO:1000828 xref: ICD10CM:C95.0 xref: ICDO:9805/3 xref: MESH:D015456 xref: NCI:C4673 xref: NCI:C82179 is_a: DOID:0081312 ! T-cell non-Hodgkin lymphoma is_a: DOID:12603 ! acute leukemia [Term] id: DOID:9954 name: null-cell leukemia synonym: "null-cell acute lymphoblastic leukaemia" EXACT [] synonym: "null-cell acute lymphoblastic leukemia" EXACT [] synonym: "null-cell leukaemia" EXACT [] is_a: DOID:9952 ! acute lymphoblastic leukemia created_by: rgd creation_date: 2017-09-21T00:00:00Z [Term] id: DOID:9955 name: hypoplastic left heart syndrome def: "A congenital heart disease characterized by abnormal development of the left-sided structures of the heart. (DO)" [http://en.wikipedia.org/wiki/Hypoplastic_left_heart_syndrome "DO", http://rarediseases.info.nih.gov/gard/6739/hypoplastic-left-heart-syndrome/resources/1 "DO", http://www.merckmanuals.com/professional/pediatrics/congenital_cardiovascular_anomalies/hypoplastic_left_heart_syndrome.html "DO"] synonym: "HAND1-RELATED CONDITION" NARROW [] synonym: "HLHS" EXACT [] synonym: "left heart hypoplasia syndrome" EXACT [] xref: GARD:6739 xref: ICD10CM:Q23.4 xref: ICD9CM:746.7 xref: MESH:D018636 xref: MIM:PS241550 xref: NCI:C98894 xref: ORDO:2248 is_a: DOID:1682 ! congenital heart disease is_a: DOID:225 ! syndrome [Term] id: DOID:9957 name: periostitis def: "A connective tissue disease characterized by inflammation located_in the periosteum of the bone. (DO)" [https://en.wikipedia.org/wiki/Periostitis "DO"] synonym: "periostitides" EXACT [] xref: MESH:D010522 is_a: DOID:9005372 ! Inflammation is_a: DOID:9007047 ! Infectious Bone Diseases [Term] id: DOID:9958 name: hemometra def: "A uterine disease that is characterized by the presence of blood in the uterine cavity. (DO)" [https://en.wikipedia.org/wiki/Hematometra "DO"] synonym: "hematometra" EXACT [] synonym: "hematometras" EXACT [] xref: EFO:1000962 xref: ICD10CM:N85.7 xref: ICD9CM:621.4 xref: MESH:D006409 is_a: DOID:345 ! uterine disease [Term] id: DOID:9965 name: toxoplasmosis def: "A coccidiosis that has_material_basis_in protozoan Toxoplasma gondii. The parasite effects most genera of warm-blooded animals, including humans, but the primary host is the felid (cat) family. Animals are infected by eating infected meat, by ingestion of feces of a cat that has itself recently been infected, or transmission_by mother to fetus. The symptoms include bilateral, nontender cervical or axillary lymphadenopathy, fever, malaise, myalgia, hepatosplenomegaly, anemia and leukopenia. (DO)" [http://en.wikipedia.org/wiki/Toxoplasmosis "DO"] synonym: "disseminated toxoplasmosis" EXACT [] synonym: "Toxoplasma gondii infection" EXACT [] synonym: "Toxoplasma gondii infections" EXACT [] synonym: "toxoplasmoses" EXACT [] xref: EFO:0007517 xref: ICD10CM:B58 xref: ICD9CM:130 xref: MESH:D014123 xref: NCI:C3418 is_a: DOID:2113 ! coccidiosis [Term] id: DOID:9969 name: carotenemia def: "An acquired metabolic disease that is characterized by yellow-orange skin pigmentation due to high levels of carotene in blood. (DO)" [https://www.ncbi.nlm.nih.gov/books/NBK534878/ "DO"] synonym: "hypercarotinemia" EXACT [] xref: ICD10CM:E67.1 xref: ICD9CM:278.3 xref: NCI:C26963 is_a: DOID:0060158 ! acquired metabolic disease created_by: rgd creation_date: 2017-10-27T00:00:00Z [Term] id: DOID:997 name: uterine inversion def: "A uterine disease that is characterized by the uterine cavity turning inside out as a complication of childbirth. (DO)" [https://en.wikipedia.org/wiki/Uterine_inversion "DO"] synonym: "inversion of uterus" EXACT [] synonym: "uterus inversion" EXACT [] xref: EFO:1001446 xref: ICD10CM:N85.5 xref: ICD9CM:665.2 xref: MESH:D019687 is_a: DOID:345 ! uterine disease is_a: DOID:9000610 ! Obstetric Labor Complications [Term] id: DOID:9970 name: obesity def: "An overnutrition that is characterized by excess body fat, traditionally defined as an elevated ratio of weight to height (specifically 30 kilograms per meter squared), has_material_basis_in a multifactorial etiology related to excess nutrition intake, decreased caloric utilization, and genetic susceptibility, and possibly medications and certain disorders of metabolism, endocrine function, and mental illness. (DO)" [https://en.wikipedia.org/wiki/Obesity "DO"] synonym: "ADCY3-RELATED CONDITION" NARROW [] synonym: "LEANNESS" RELATED [] synonym: "Maternal Obesity" NARROW [] synonym: "MELANOCORTIN 4 RECEPTOR POLYMORPHISM" RELATED [] synonym: "MONOGENIC NON-SYNDROMIC OBESITY" NARROW [] synonym: "MONOGENIC OBESITY" NARROW [] synonym: "NR0B2-RELATED CONDITION" NARROW [] synonym: "OBESITY, AGE AT ONSET OF" RELATED [] synonym: "OBESITY, ASSOCIATION WITH" RELATED [] synonym: "Obesity, autosomal dominant" NARROW [] synonym: "obesity disorder" EXACT [] synonym: "OBESITY DUE TO MELANOCORTIN 4 RECEPTOR DEFICIENCY" NARROW [] synonym: "OBESITY DUE TO SIM1 DEFICIENCY" NARROW [] synonym: "OBESITY, EARLY-ONSET, SUSCEPTIBILITY TO" RELATED [] synonym: "Obesity, Late-Onset" NARROW [] synonym: "OBESITY, MILD, EARLY-ONSET" NARROW [] synonym: "OBESITY, RESISTANCE TO" RELATED [] synonym: "OBESITY, SUSCEPTIBILITY TO" RELATED [] synonym: "obesity, variation in" RELATED [] synonym: "severe obesity and type II diabetes" NARROW [] synonym: "SIM1-RELATED CONDITION" NARROW [] synonym: "UCP3 polymorphism G/A" RELATED [] synonym: "UCP3-related condition" BROAD [] xref: EFO:0001073 xref: ICD10CM:E66.9 xref: ICD9CM:278.00 xref: MESH:D000079262 xref: MESH:D009765 xref: MIM:601665 xref: MONDO:0011122 xref: NCI:C159658 xref: NCI:C3283 is_a: DOID:654 ! overnutrition is_a: DOID:9002569 ! Overweight [Term] id: DOID:9971 name: hypervitaminosis D def: "An overnutrition that is characterized by elevated vitamin D, which can subsequently cause high levels of calcium, has_symptom myalgia, fatigue, irritability, nausea, dehydration, polyuria, and nephrocalcinosis, and possibly has_material_basis_in excess intake of vitamin D. (DO)" [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3191699/ "DO"] xref: ICD10CM:E67.3 xref: ICD9CM:278.4 is_a: DOID:654 ! overnutrition [Term] id: DOID:9972 name: hypervitaminosis A alt_id: MIM:240150 def: "An overnutrition that is characterized by excess vitamin A, has_symptom hepatomegaly, anorexia, fever, alopecia, and arthralgia, and has_material_basis_in excessive intake of vitaimin A, and/or derangement of vitamin A metabolism. (DO)" [https://jamanetwork.com/journals/jamapediatrics/article-abstract/1181005 "DO", https://medlineplus.gov/ency/article/000350.htm "DO"] xref: EFO:1000978 xref: ICD10CM:E67.0 xref: ICD9CM:278.2 xref: MESH:D006986 is_a: DOID:654 ! overnutrition [Term] id: DOID:9973 name: substance dependence def: "A substance-related disorder that involves the continued use of alcohol or other drugs despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Drug_dependence "DO"] synonym: "substance addiction" EXACT [] xref: NCI:C35458 is_a: DOID:303 ! substance-related disorder created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:9974 name: drug dependence def: "A substance dependence that involves the continued use of drugs despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Drug_dependence "DO"] synonym: "drug abuse" BROAD [] synonym: "drug addiction" EXACT [] synonym: "drug addiction, susceptibility to" RELATED [] synonym: "drug habituation" RELATED [] synonym: "drug use disorder" BROAD [] synonym: "drug use disorders" BROAD [] xref: EFO:0003890 xref: ICD9CM:304.60 xref: RDO:9002645 is_a: DOID:9973 ! substance dependence created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:9975 name: cocaine dependence def: "A drug dependence that is a psychological dependency on the regular use of cocaine. (DO)" [http://en.wikipedia.org/wiki/Cocaine_dependence "DO"] synonym: "cocaine addiction" EXACT [] synonym: "cocaine dependences" EXACT [] xref: EFO:0002610 xref: ICD10CM:F14.2 xref: ICD9CM:304.2 xref: NCI:C34492 is_a: DOID:9005632 ! Cocaine-Related Disorders is_a: DOID:9974 ! drug dependence created_by: rgd creation_date: 2017-10-18T00:00:00Z [Term] id: DOID:9976 name: heroin dependence def: "An opiate dependence that involves the continued use of heroin despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Opioid_dependence "DO"] synonym: "heroin abuse" EXACT [] synonym: "heroin addiction" EXACT [] xref: EFO:0004240 xref: MESH:D006556 xref: NCI:C34694 is_a: DOID:2559 ! opiate dependence [Term] id: DOID:9977 name: hallucinogen dependence def: "A drug dependence that involves the continued use of hallucinogenic drugs despite problems related to use of the substance. (DO)" [http://en.wikipedia.org/wiki/Hallucinogenic_drugs "DO"] xref: ICD10CM:F16.2 xref: ICD9CM:304.5 xref: NCI:C34657 xref: RDO:9002646 is_a: DOID:9974 ! drug dependence created_by: rgd creation_date: 2017-10-17T00:00:00Z [Term] id: DOID:9978 name: acute female pelvic peritonitis xref: ICD10CM:N73.3 xref: ICD9CM:614.5 xref: RDO:9002315 is_a: DOID:1003 ! pelvic inflammatory disease is_a: DOID:8283 ! peritonitis created_by: rgd creation_date: 2017-09-28T00:00:00Z [Term] id: DOID:998 name: eosinophilia-myalgia syndrome def: "A hypereosinophilic syndrome that is characterized by subacute onset of myalgias and peripheral eosinophilia, followed by chronic neuropathy and skin induration. (DO)" [https://rarediseases.org/rare-diseases/eosinophilia-myalgia-syndrome/ "DO", https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848710/ "DO"] synonym: "eosinophilia-myalgia syndromes" EXACT [] synonym: "L-Tryptophan-Related Eosinophilia-Myalgia Syndrome" EXACT [] synonym: "L-Tryptophan-Related Eosinophilia-Myalgia Syndromes" EXACT [] xref: EFO:1001316 xref: GARD:6345 xref: ICD9CM:710.5 xref: MESH:D016603 is_a: DOID:0080000 ! muscular disease is_a: DOID:999 ! hypereosinophilic syndrome [Term] id: DOID:9986 name: orbit lymphoma def: "An orbital cancer that has_material_basis_in some lymphocyte. (DO)" [https://en.wikipedia.org/wiki/Orbital_lymphoma "DO"] synonym: "lymphoma of the orbit" EXACT [] synonym: "orbital lymphoma" EXACT [] synonym: "primary orbital lymphoma" EXACT [] xref: GARD:9719 xref: MESH:C537131 xref: NCI:C6244 is_a: DOID:0060058 ! lymphoma is_a: DOID:4143 ! orbital cancer [Term] id: DOID:9987 name: orbit sarcoma def: "An orbital cancer that has_material_basis_in abnormally proliferating cells derived from embryonic mesoderm. (DO)" [https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&ns=ncit&code=C6095 "DO"] synonym: "orbital sarcoma" EXACT [] xref: NCI:C6095 is_a: DOID:1115 ! sarcoma is_a: DOID:4143 ! orbital cancer created_by: rgd creation_date: 2017-11-02T00:00:00Z [Term] id: DOID:9988 name: tertiary neurosyphilis def: "A tertiary syphilis that results in infection located in brain or located in spinal cord. (DO)" [http://www.merckmanuals.com/professional/sec14/ch194/ch194i.html?qt=latent%20syphylis&alt=sh "DO", http://www.nlm.nih.gov/medlineplus/ency/article/000703.htm "DO"] synonym: "late neurosyphilis" EXACT [] xref: ICD10CM:A52.3 xref: ICD9CM:094 xref: NCI:C84935 xref: RDO:9002430 is_a: DOID:319 ! spinal cord disease is_a: DOID:8200 ! tertiary syphilis is_a: DOID:9001414 ! Neurosyphilis is_a: DOID:936 ! brain disease created_by: rgd creation_date: 2017-10-02T00:00:00Z [Term] id: DOID:999 name: hypereosinophilic syndrome alt_id: MIM:607685 def: "A leukocyte disease that is characterized by high numbers of eosinophils which over time enter various tissues, eventually damaging organs. (DO)" [https://en.wikipedia.org/wiki/Hypereosinophilic_syndrome "DO", https://www.mayoclinic.org/diseases-conditions/hypereosinophilic-syndrome/symptoms-causes/syc-20352854 "DO"] synonym: "Eosinophilic Leukemia" EXACT [] synonym: "Eosinophilic Leukemias" EXACT [] synonym: "eosinophilic leukocytosis" EXACT [] synonym: "HES" EXACT [] synonym: "HYPEREOSINOPHILIC SYNDROME, IDIOPATHIC, RESISTANT TO IMATINIB" NARROW [] synonym: "Hypereosinophilic Syndromes" EXACT [] synonym: "Idiopathic Hypereosinophilic Syndrome" EXACT [] synonym: "Idiopathic Hypereosinophilic Syndromes" EXACT [] synonym: "Loeffler's Endocarditis" EXACT [] synonym: "Loeffler Endocarditis" EXACT [] synonym: "Loefflers endocarditis" EXACT [] xref: EFO:1001467 xref: GARD:2804 xref: ICD10CM:D72.1 xref: ICD9CM:288.3 xref: MESH:D017681 xref: ORDO:168956 is_a: DOID:225 ! syndrome is_a: DOID:9001371 ! Eosinophilia [Term] id: DOID:9993 name: hypoglycemia def: "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose. (DO)" [https://www.niddk.nih.gov/health-information/diabetes/overview/preventing-problems/low-blood-glucose-hypoglycemia "DO"] synonym: "Fasting Hypoglycemia" EXACT [] synonym: "hypoglycaemia" EXACT [] synonym: "Postabsorptive Hypoglycemia" EXACT [] synonym: "Postprandial Hypoglycemia" EXACT [] synonym: "Reactive Hypoglycemia" EXACT [] xref: ICD10CM:E16.2 xref: ICD9CM:251.2 xref: MESH:D007003 xref: NCI:C3126 is_a: DOID:1428 ! endocrine pancreas disease is_a: DOID:4194 ! glucose metabolism disease [Term] id: DOID:9997 name: peripartum cardiomyopathy def: "A dilated cardiomyopathy that is characterized by a weakness of the heart muscle that begins sometime during the final month of pregnancy through about five months after delivery. (DO)" [https://pubmed.ncbi.nlm.nih.gov/30575651/ "DO", https://www.hopkinsmedicine.org/health/conditions-and-diseases/peripartum-cardiomyopathy "DO"] synonym: "antepartum peripartum cardiomyopathy" EXACT [] synonym: "peripartum cardiomyopathy, susceptibility to" RELATED [] synonym: "postpartum peripartum cardiomyopathy" EXACT [] xref: EFO:0002628 xref: GARD:220 xref: ICD10CM:O90.3 xref: ICD9CM:674.5 xref: MIM:614670 xref: NCI:C171602 xref: ORDO:563 is_a: DOID:12930 ! dilated cardiomyopathy created_by: rgd creation_date: 2017-09-05T00:00:00Z